Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150947163_150948277del | CA1139660328 | KCNH2 | n.3525+167_3986-109del c.2692+167_3153-109del c.1672+167_2133-109del c.2392+167_2853-109del c.2542+167_3003-109del c.2515+167_2976-109del | ClinVar |
7 | g.150947295del | CA2685601649 | KCNH2 | n.3985+35del c.3152+35del (n.3152+35del) c.2132+35del (n.2132+35del) c.2852+35del (n.2852+35del) c.3002+35del (n.3002+35del) c.2975+35del (n.2975+35del) | gnomAD v4 |
7 | g.150947295G>A | CA458644784 | KCNH2 | n.3985+33C>T c.3152+33C>T (n.3152+33C>T) c.2132+33C>T (n.2132+33C>T) c.2852+33C>T (n.2852+33C>T) c.3002+33C>T (n.3002+33C>T) c.2975+33C>T (n.2975+33C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947295G= | CA1752428271 | KCNH2 | n.3985+33C= c.3152+33C= (n.3152+33C=) c.2132+33C= (n.2132+33C=) c.2852+33C= (n.2852+33C=) c.3002+33C= (n.3002+33C=) c.2975+33C= (n.2975+33C=) | |
7 | g.150947295G>T | CA579075331 | KCNH2 | n.3985+33C>A c.3152+33C>A (n.3152+33C>A) c.2132+33C>A (n.2132+33C>A) c.2852+33C>A (n.2852+33C>A) c.3002+33C>A (n.3002+33C>A) c.2975+33C>A (n.2975+33C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947296C>A | CA2685601678 | KCNH2 | n.3985+32G>T c.3152+32G>T (n.3152+32G>T) c.2132+32G>T (n.2132+32G>T) c.2852+32G>T (n.2852+32G>T) c.3002+32G>T (n.3002+32G>T) c.2975+32G>T (n.2975+32G>T) | gnomAD v4 |
7 | g.150947296C= | CA1752428275 | KCNH2 | n.3985+32G= c.3152+32G= (n.3152+32G=) c.2132+32G= (n.2132+32G=) c.2852+32G= (n.2852+32G=) c.3002+32G= (n.3002+32G=) c.2975+32G= (n.2975+32G=) | |
7 | g.150947296C>T | CA037332 | KCNH2 | n.3985+32G>A c.3152+32G>A (n.3152+32G>A) c.2132+32G>A (n.2132+32G>A) c.2852+32G>A (n.2852+32G>A) c.3002+32G>A (n.3002+32G>A) c.2975+32G>A (n.2975+32G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150947297G>A | CA037324 | KCNH2 | n.3985+31C>T c.3152+31C>T (n.3152+31C>T) c.2132+31C>T (n.2132+31C>T) c.2852+31C>T (n.2852+31C>T) c.3002+31C>T (n.3002+31C>T) c.2975+31C>T (n.2975+31C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947297G>C | CA2685601685 | KCNH2 | n.3985+31C>G c.3152+31C>G (n.3152+31C>G) c.2132+31C>G (n.2132+31C>G) c.2852+31C>G (n.2852+31C>G) c.3002+31C>G (n.3002+31C>G) c.2975+31C>G (n.2975+31C>G) | gnomAD v4 |
7 | g.150947297G= | CA1752428278 | KCNH2 | n.3985+31C= c.3152+31C= (n.3152+31C=) c.2132+31C= (n.2132+31C=) c.2852+31C= (n.2852+31C=) c.3002+31C= (n.3002+31C=) c.2975+31C= (n.2975+31C=) | |
7 | g.150947297G>T | CA2685601686 | KCNH2 | n.3985+31C>A c.3152+31C>A (n.3152+31C>A) c.2132+31C>A (n.2132+31C>A) c.2852+31C>A (n.2852+31C>A) c.3002+31C>A (n.3002+31C>A) c.2975+31C>A (n.2975+31C>A) | gnomAD v4 |
7 | g.150947299G>A | CA2685601691 | KCNH2 | n.3985+29C>T c.3152+29C>T (n.3152+29C>T) c.2132+29C>T (n.2132+29C>T) c.2852+29C>T (n.2852+29C>T) c.3002+29C>T (n.3002+29C>T) c.2975+29C>T (n.2975+29C>T) | gnomAD v4 |
7 | g.150947299G= | CA1752428280 | KCNH2 | n.3985+29C= c.3152+29C= (n.3152+29C=) c.2132+29C= (n.2132+29C=) c.2852+29C= (n.2852+29C=) c.3002+29C= (n.3002+29C=) c.2975+29C= (n.2975+29C=) | |
7 | g.150947299G>T | CA2685601692 | KCNH2 | n.3985+29C>A c.3152+29C>A (n.3152+29C>A) c.2132+29C>A (n.2132+29C>A) c.2852+29C>A (n.2852+29C>A) c.3002+29C>A (n.3002+29C>A) c.2975+29C>A (n.2975+29C>A) | gnomAD v4 |
7 | g.150947299_150947300del | CA2778425727 | KCNH2 | n.3985+28_3985+29del c.3152+28_3152+29del (n.3152+28_3152+29del) c.2132+28_2132+29del (n.2132+28_2132+29del) c.2852+28_2852+29del (n.2852+28_2852+29del) c.3002+28_3002+29del (n.3002+28_3002+29del) c.2975+28_2975+29del (n.2975+28_2975+29del) | |
7 | g.150947299_150947300delinsGC | CA1752428281 | KCNH2 | n.3985+28_3985+29delinsGC c.3152+28_3152+29delinsGC (n.3152+28_3152+29delinsGC) c.2132+28_2132+29delinsGC (n.2132+28_2132+29delinsGC) c.2852+28_2852+29delinsGC (n.2852+28_2852+29delinsGC) c.3002+28_3002+29delinsGC (n.3002+28_3002+29delinsGC) c.2975+28_2975+29delinsGC (n.2975+28_2975+29delinsGC) | |
7 | g.150947300C>A | CA2685601701 | KCNH2 | n.3985+28G>T c.3152+28G>T (n.3152+28G>T) c.2132+28G>T (n.2132+28G>T) c.2852+28G>T (n.2852+28G>T) c.3002+28G>T (n.3002+28G>T) c.2975+28G>T (n.2975+28G>T) | gnomAD v4 |
7 | g.150947300C= | CA1752428291 | KCNH2 | n.3985+28G= c.3152+28G= (n.3152+28G=) c.2132+28G= (n.2132+28G=) c.2852+28G= (n.2852+28G=) c.3002+28G= (n.3002+28G=) c.2975+28G= (n.2975+28G=) | |
7 | g.150947300C>G | CA037314 | KCNH2 | n.3985+28G>C c.3152+28G>C (n.3152+28G>C) c.2132+28G>C (n.2132+28G>C) c.2852+28G>C (n.2852+28G>C) c.3002+28G>C (n.3002+28G>C) c.2975+28G>C (n.2975+28G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947300C>T | CA579075333 | KCNH2 | n.3985+28G>A c.3152+28G>A (n.3152+28G>A) c.2132+28G>A (n.2132+28G>A) c.2852+28G>A (n.2852+28G>A) c.3002+28G>A (n.3002+28G>A) c.2975+28G>A (n.2975+28G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947306dup | CA4566416 | KCNH2 | n.3985+28dup c.3152+28dup (n.3152+28dup) c.2132+28dup (n.2132+28dup) c.2852+28dup (n.2852+28dup) c.3002+28dup (n.3002+28dup) c.2975+28dup (n.2975+28dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947306del | CA037286 | KCNH2 | n.3985+28del c.3152+28del (n.3152+28del) c.2132+28del (n.2132+28del) c.2852+28del (n.2852+28del) c.3002+28del (n.3002+28del) c.2975+28del (n.2975+28del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947304_150947311dup | CA579075332 | KCNH2 | n.3985+21_3985+28dup c.3152+21_3152+28dup (n.3152+21_3152+28dup) c.2132+21_2132+28dup (n.2132+21_2132+28dup) c.2852+21_2852+28dup (n.2852+21_2852+28dup) c.3002+21_3002+28dup (n.3002+21_3002+28dup) c.2975+21_2975+28dup (n.2975+21_2975+28dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947301C>A | CA2685601710 | KCNH2 | n.3985+27G>T c.3152+27G>T (n.3152+27G>T) c.2132+27G>T (n.2132+27G>T) c.2852+27G>T (n.2852+27G>T) c.3002+27G>T (n.3002+27G>T) c.2975+27G>T (n.2975+27G>T) | gnomAD v4 |
7 | g.150947301C= | CA1752428294 | KCNH2 | n.3985+27G= c.3152+27G= (n.3152+27G=) c.2132+27G= (n.2132+27G=) c.2852+27G= (n.2852+27G=) c.3002+27G= (n.3002+27G=) c.2975+27G= (n.2975+27G=) | |
7 | g.150947301C>G | CA2579062629 | KCNH2 | n.3985+27G>C c.3152+27G>C (n.3152+27G>C) c.2132+27G>C (n.2132+27G>C) c.2852+27G>C (n.2852+27G>C) c.3002+27G>C (n.3002+27G>C) c.2975+27G>C (n.2975+27G>C) | |
7 | g.150947301C>T | CA037258 | KCNH2 | n.3985+27G>A c.3152+27G>A (n.3152+27G>A) c.2132+27G>A (n.2132+27G>A) c.2852+27G>A (n.2852+27G>A) c.3002+27G>A (n.3002+27G>A) c.2975+27G>A (n.2975+27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947302C>A | CA2685601715 | KCNH2 | n.3985+26G>T c.3152+26G>T (n.3152+26G>T) c.2132+26G>T (n.2132+26G>T) c.2852+26G>T (n.2852+26G>T) c.3002+26G>T (n.3002+26G>T) c.2975+26G>T (n.2975+26G>T) | gnomAD v4 |
7 | g.150947302C= | CA1752428300 | KCNH2 | n.3985+26G= c.3152+26G= (n.3152+26G=) c.2132+26G= (n.2132+26G=) c.2852+26G= (n.2852+26G=) c.3002+26G= (n.3002+26G=) c.2975+26G= (n.2975+26G=) | |
7 | g.150947302C>T | CA037246 | KCNH2 | n.3985+26G>A c.3152+26G>A (n.3152+26G>A) c.2132+26G>A (n.2132+26G>A) c.2852+26G>A (n.2852+26G>A) c.3002+26G>A (n.3002+26G>A) c.2975+26G>A (n.2975+26G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.150947303C>A | CA2685601718 | KCNH2 | n.3985+25G>T c.3152+25G>T (n.3152+25G>T) c.2132+25G>T (n.2132+25G>T) c.2852+25G>T (n.2852+25G>T) c.3002+25G>T (n.3002+25G>T) c.2975+25G>T (n.2975+25G>T) | gnomAD v4 |
7 | g.150947303C= | CA1752428303 | KCNH2 | n.3985+25G= c.3152+25G= (n.3152+25G=) c.2132+25G= (n.2132+25G=) c.2852+25G= (n.2852+25G=) c.3002+25G= (n.3002+25G=) c.2975+25G= (n.2975+25G=) | |
7 | g.150947303C>T | CA579075334 | KCNH2 | n.3985+25G>A c.3152+25G>A (n.3152+25G>A) c.2132+25G>A (n.2132+25G>A) c.2852+25G>A (n.2852+25G>A) c.3002+25G>A (n.3002+25G>A) c.2975+25G>A (n.2975+25G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947304C>A | CA2685601719 | KCNH2 | n.3985+24G>T c.3152+24G>T (n.3152+24G>T) c.2132+24G>T (n.2132+24G>T) c.2852+24G>T (n.2852+24G>T) c.3002+24G>T (n.3002+24G>T) c.2975+24G>T (n.2975+24G>T) | gnomAD v4 |
7 | g.150947304C>T | CA2579062630 | KCNH2 | n.3985+24G>A c.3152+24G>A (n.3152+24G>A) c.2132+24G>A (n.2132+24G>A) c.2852+24G>A (n.2852+24G>A) c.3002+24G>A (n.3002+24G>A) c.2975+24G>A (n.2975+24G>A) | dbSNP gnomAD v4 |
7 | g.150947305C>A | CA1752428307 | KCNH2 | n.3985+23G>T c.3152+23G>T (n.3152+23G>T) c.2132+23G>T (n.2132+23G>T) c.2852+23G>T (n.2852+23G>T) c.3002+23G>T (n.3002+23G>T) c.2975+23G>T (n.2975+23G>T) | dbSNP gnomAD v4 |
7 | g.150947305C= | CA1752428305 | KCNH2 | n.3985+23G= c.3152+23G= (n.3152+23G=) c.2132+23G= (n.2132+23G=) c.2852+23G= (n.2852+23G=) c.3002+23G= (n.3002+23G=) c.2975+23G= (n.2975+23G=) | |
7 | g.150947305C>G | CA579075335 | KCNH2 | n.3985+23G>C c.3152+23G>C (n.3152+23G>C) c.2132+23G>C (n.2132+23G>C) c.2852+23G>C (n.2852+23G>C) c.3002+23G>C (n.3002+23G>C) c.2975+23G>C (n.2975+23G>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947305C>T | CA2685601720 | KCNH2 | n.3985+23G>A c.3152+23G>A (n.3152+23G>A) c.2132+23G>A (n.2132+23G>A) c.2852+23G>A (n.2852+23G>A) c.3002+23G>A (n.3002+23G>A) c.2975+23G>A (n.2975+23G>A) | gnomAD v4 |
7 | g.150947306C>A | CA579075336 | KCNH2 | n.3985+22G>T c.3152+22G>T (n.3152+22G>T) c.2132+22G>T (n.2132+22G>T) c.2852+22G>T (n.2852+22G>T) c.3002+22G>T (n.3002+22G>T) c.2975+22G>T (n.2975+22G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947306C= | CA1752428310 | KCNH2 | n.3985+22G= c.3152+22G= (n.3152+22G=) c.2132+22G= (n.2132+22G=) c.2852+22G= (n.2852+22G=) c.3002+22G= (n.3002+22G=) c.2975+22G= (n.2975+22G=) | |
7 | g.150947306C>G | CA037238 | KCNH2 | n.3985+22G>C c.3152+22G>C (n.3152+22G>C) c.2132+22G>C (n.2132+22G>C) c.2852+22G>C (n.2852+22G>C) c.3002+22G>C (n.3002+22G>C) c.2975+22G>C (n.2975+22G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947306C>T | CA037229 | KCNH2 | n.3985+22G>A c.3152+22G>A (n.3152+22G>A) c.2132+22G>A (n.2132+22G>A) c.2852+22G>A (n.2852+22G>A) c.3002+22G>A (n.3002+22G>A) c.2975+22G>A (n.2975+22G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947306_150947307insT | CA2685601726 | KCNH2 | n.3985+21_3985+22insA c.3152+21_3152+22insA (n.3152+21_3152+22insA) c.2132+21_2132+22insA (n.2132+21_2132+22insA) c.2852+21_2852+22insA (n.2852+21_2852+22insA) c.3002+21_3002+22insA (n.3002+21_3002+22insA) c.2975+21_2975+22insA (n.2975+21_2975+22insA) | gnomAD v4 |
7 | g.150947307A>G | CA2685601727 | KCNH2 | n.3985+21T>C c.3152+21T>C (n.3152+21T>C) c.2132+21T>C (n.2132+21T>C) c.2852+21T>C (n.2852+21T>C) c.3002+21T>C (n.3002+21T>C) c.2975+21T>C (n.2975+21T>C) | gnomAD v4 |
7 | g.150947308C>A | CA2573141843 | KCNH2 | n.3985+20G>T c.3152+20G>T (n.3152+20G>T) c.2132+20G>T (n.2132+20G>T) c.2852+20G>T (n.2852+20G>T) c.3002+20G>T (n.3002+20G>T) c.2975+20G>T (n.2975+20G>T) | ClinVar dbSNP gnomAD v4 |
7 | g.150947308C>T | CA2685601732 | KCNH2 | n.3985+20G>A c.3152+20G>A (n.3152+20G>A) c.2132+20G>A (n.2132+20G>A) c.2852+20G>A (n.2852+20G>A) c.3002+20G>A (n.3002+20G>A) c.2975+20G>A (n.2975+20G>A) | gnomAD v4 |
7 | g.150947311del | CA2685601730 | KCNH2 | n.3985+20del c.3152+20del (n.3152+20del) c.2132+20del (n.2132+20del) c.2852+20del (n.2852+20del) c.3002+20del (n.3002+20del) c.2975+20del (n.2975+20del) | gnomAD v4 |
7 | g.150947309C>A | CA2685601737 | KCNH2 | n.3985+19G>T c.3152+19G>T (n.3152+19G>T) c.2132+19G>T (n.2132+19G>T) c.2852+19G>T (n.2852+19G>T) c.3002+19G>T (n.3002+19G>T) c.2975+19G>T (n.2975+19G>T) | gnomAD v4 |
7 | g.150947309C= | CA1752428313 | KCNH2 | n.3985+19G= c.3152+19G= (n.3152+19G=) c.2132+19G= (n.2132+19G=) c.2852+19G= (n.2852+19G=) c.3002+19G= (n.3002+19G=) c.2975+19G= (n.2975+19G=) | |
7 | g.150947309C>T | CA579075337 | KCNH2 | n.3985+19G>A c.3152+19G>A (n.3152+19G>A) c.2132+19G>A (n.2132+19G>A) c.2852+19G>A (n.2852+19G>A) c.3002+19G>A (n.3002+19G>A) c.2975+19G>A (n.2975+19G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947310C>A | CA579075338 | KCNH2 | n.3985+18G>T c.3152+18G>T (n.3152+18G>T) c.2132+18G>T (n.2132+18G>T) c.2852+18G>T (n.2852+18G>T) c.3002+18G>T (n.3002+18G>T) c.2975+18G>T (n.2975+18G>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947310C= | CA1752428316 | KCNH2 | n.3985+18G= c.3152+18G= (n.3152+18G=) c.2132+18G= (n.2132+18G=) c.2852+18G= (n.2852+18G=) c.3002+18G= (n.3002+18G=) c.2975+18G= (n.2975+18G=) | |
7 | g.150947311C>A | CA579075339 | KCNH2 | n.3985+17G>T c.3152+17G>T (n.3152+17G>T) c.2132+17G>T (n.2132+17G>T) c.2852+17G>T (n.2852+17G>T) c.3002+17G>T (n.3002+17G>T) c.2975+17G>T (n.2975+17G>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947311C= | CA1752428318 | KCNH2 | n.3985+17G= c.3152+17G= (n.3152+17G=) c.2132+17G= (n.2132+17G=) c.2852+17G= (n.2852+17G=) c.3002+17G= (n.3002+17G=) c.2975+17G= (n.2975+17G=) | |
7 | g.150947311C>T | CA2685601747 | KCNH2 | n.3985+17G>A c.3152+17G>A (n.3152+17G>A) c.2132+17G>A (n.2132+17G>A) c.2852+17G>A (n.2852+17G>A) c.3002+17G>A (n.3002+17G>A) c.2975+17G>A (n.2975+17G>A) | gnomAD v4 |
7 | g.150947312A= | CA1752428320 | KCNH2 | n.3985+16T= c.3152+16T= (n.3152+16T=) c.2132+16T= (n.2132+16T=) c.2852+16T= (n.2852+16T=) c.3002+16T= (n.3002+16T=) c.2975+16T= (n.2975+16T=) | |
7 | g.150947312A>C | CA2716042275 | KCNH2 | n.3985+16T>G c.3152+16T>G (n.3152+16T>G) c.2132+16T>G (n.2132+16T>G) c.2852+16T>G (n.2852+16T>G) c.3002+16T>G (n.3002+16T>G) c.2975+16T>G (n.2975+16T>G) | dbSNP |
7 | g.150947312A>G | CA2685601749 | KCNH2 | n.3985+16T>C c.3152+16T>C (n.3152+16T>C) c.2132+16T>C (n.2132+16T>C) c.2852+16T>C (n.2852+16T>C) c.3002+16T>C (n.3002+16T>C) c.2975+16T>C (n.2975+16T>C) | gnomAD v4 |
7 | g.150947312A>T | CA579075340 | KCNH2 | n.3985+16T>A c.3152+16T>A (n.3152+16T>A) c.2132+16T>A (n.2132+16T>A) c.2852+16T>A (n.2852+16T>A) c.3002+16T>A (n.3002+16T>A) c.2975+16T>A (n.2975+16T>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947313C>A | CA2685601754 | KCNH2 | n.3985+15G>T c.3152+15G>T (n.3152+15G>T) c.2132+15G>T (n.2132+15G>T) c.2852+15G>T (n.2852+15G>T) c.3002+15G>T (n.3002+15G>T) c.2975+15G>T (n.2975+15G>T) | gnomAD v4 |
7 | g.150947313C= | CA1752428322 | KCNH2 | n.3985+15G= c.3152+15G= (n.3152+15G=) c.2132+15G= (n.2132+15G=) c.2852+15G= (n.2852+15G=) c.3002+15G= (n.3002+15G=) c.2975+15G= (n.2975+15G=) | |
7 | g.150947313C>G | CA579075345 | KCNH2 | n.3985+15G>C c.3152+15G>C (n.3152+15G>C) c.2132+15G>C (n.2132+15G>C) c.2852+15G>C (n.2852+15G>C) c.3002+15G>C (n.3002+15G>C) c.2975+15G>C (n.2975+15G>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947313C>T | CA2685601755 | KCNH2 | n.3985+15G>A c.3152+15G>A (n.3152+15G>A) c.2132+15G>A (n.2132+15G>A) c.2852+15G>A (n.2852+15G>A) c.3002+15G>A (n.3002+15G>A) c.2975+15G>A (n.2975+15G>A) | gnomAD v4 |
7 | g.150947314C>A | CA579075346 | KCNH2 | n.3985+14G>T c.3152+14G>T (n.3152+14G>T) c.2132+14G>T (n.2132+14G>T) c.2852+14G>T (n.2852+14G>T) c.3002+14G>T (n.3002+14G>T) c.2975+14G>T (n.2975+14G>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947314C= | CA1752428323 | KCNH2 | n.3985+14G= c.3152+14G= (n.3152+14G=) c.2132+14G= (n.2132+14G=) c.2852+14G= (n.2852+14G=) c.3002+14G= (n.3002+14G=) c.2975+14G= (n.2975+14G=) | |
7 | g.150947314C>T | CA2685601756 | KCNH2 | n.3985+14G>A c.3152+14G>A (n.3152+14G>A) c.2132+14G>A (n.2132+14G>A) c.2852+14G>A (n.2852+14G>A) c.3002+14G>A (n.3002+14G>A) c.2975+14G>A (n.2975+14G>A) | gnomAD v4 |
7 | g.150947315T>A | CA2685601758 | KCNH2 | n.3985+13A>T c.3152+13A>T (n.3152+13A>T) c.2132+13A>T (n.2132+13A>T) c.2852+13A>T (n.2852+13A>T) c.3002+13A>T (n.3002+13A>T) c.2975+13A>T (n.2975+13A>T) | gnomAD v4 |
7 | g.150947315T>C | CA579075347 | KCNH2 | n.3985+13A>G c.3152+13A>G (n.3152+13A>G) c.2132+13A>G (n.2132+13A>G) c.2852+13A>G (n.2852+13A>G) c.3002+13A>G (n.3002+13A>G) c.2975+13A>G (n.2975+13A>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947315T= | CA1752428325 | KCNH2 | n.3985+13A= c.3152+13A= (n.3152+13A=) c.2132+13A= (n.2132+13A=) c.2852+13A= (n.2852+13A=) c.3002+13A= (n.3002+13A=) c.2975+13A= (n.2975+13A=) | |
7 | g.150947316G>A | CA2685601761 | KCNH2 | n.3985+12C>T c.3152+12C>T (n.3152+12C>T) c.2132+12C>T (n.2132+12C>T) c.2852+12C>T (n.2852+12C>T) c.3002+12C>T (n.3002+12C>T) c.2975+12C>T (n.2975+12C>T) | gnomAD v4 |
7 | g.150947316G= | CA1752428328 | KCNH2 | n.3985+12C= c.3152+12C= (n.3152+12C=) c.2132+12C= (n.2132+12C=) c.2852+12C= (n.2852+12C=) c.3002+12C= (n.3002+12C=) c.2975+12C= (n.2975+12C=) | |
7 | g.150947316G>T | CA037216 | KCNH2 | n.3985+12C>A c.3152+12C>A (n.3152+12C>A) c.2132+12C>A (n.2132+12C>A) c.2852+12C>A (n.2852+12C>A) c.3002+12C>A (n.3002+12C>A) c.2975+12C>A (n.2975+12C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947317C>A | CA2685601763 | KCNH2 | n.3985+11G>T c.3152+11G>T (n.3152+11G>T) c.2132+11G>T (n.2132+11G>T) c.2852+11G>T (n.2852+11G>T) c.3002+11G>T (n.3002+11G>T) c.2975+11G>T (n.2975+11G>T) | gnomAD v4 |
7 | g.150947317C= | CA1752428333 | KCNH2 | n.3985+11G= c.3152+11G= (n.3152+11G=) c.2132+11G= (n.2132+11G=) c.2852+11G= (n.2852+11G=) c.3002+11G= (n.3002+11G=) c.2975+11G= (n.2975+11G=) | |
7 | g.150947317C>G | CA579075348 | KCNH2 | n.3985+11G>C c.3152+11G>C (n.3152+11G>C) c.2132+11G>C (n.2132+11G>C) c.2852+11G>C (n.2852+11G>C) c.3002+11G>C (n.3002+11G>C) c.2975+11G>C (n.2975+11G>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947317C>T | CA579075349 | KCNH2 | n.3985+11G>A c.3152+11G>A (n.3152+11G>A) c.2132+11G>A (n.2132+11G>A) c.2852+11G>A (n.2852+11G>A) c.3002+11G>A (n.3002+11G>A) c.2975+11G>A (n.2975+11G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947318A= | CA1752428337 | KCNH2 | n.3985+10T= c.3152+10T= (n.3152+10T=) c.2132+10T= (n.2132+10T=) c.2852+10T= (n.2852+10T=) c.3002+10T= (n.3002+10T=) c.2975+10T= (n.2975+10T=) | |
7 | g.150947318A>G | CA835221106 | KCNH2 | n.3985+10T>C c.3152+10T>C (n.3152+10T>C) c.2132+10T>C (n.2132+10T>C) c.2852+10T>C (n.2852+10T>C) c.3002+10T>C (n.3002+10T>C) c.2975+10T>C (n.2975+10T>C) | ClinVar dbSNP gnomAD v4 |
7 | g.150947319C= | CA1752428339 | KCNH2 | n.3985+9G= c.3152+9G= (n.3152+9G=) c.2132+9G= (n.2132+9G=) c.2852+9G= (n.2852+9G=) c.3002+9G= (n.3002+9G=) c.2975+9G= (n.2975+9G=) | |
7 | g.150947319C>T | CA1108704580 | KCNH2 | n.3985+9G>A c.3152+9G>A (n.3152+9G>A) c.2132+9G>A (n.2132+9G>A) c.2852+9G>A (n.2852+9G>A) c.3002+9G>A (n.3002+9G>A) c.2975+9G>A (n.2975+9G>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150947320T>C | CA2685601765 | KCNH2 | n.3985+8A>G c.3152+8A>G (n.3152+8A>G) c.2132+8A>G (n.2132+8A>G) c.2852+8A>G (n.2852+8A>G) c.3002+8A>G (n.3002+8A>G) c.2975+8A>G (n.2975+8A>G) | dbSNP gnomAD v4 |
7 | g.150947321C>A | CA2685601766 | KCNH2 | n.3985+7G>T c.3152+7G>T (n.3152+7G>T) c.2132+7G>T (n.2132+7G>T) c.2852+7G>T (n.2852+7G>T) c.3002+7G>T (n.3002+7G>T) c.2975+7G>T (n.2975+7G>T) | gnomAD v4 |
7 | g.150947321C>T | CA2685601768 | KCNH2 | n.3985+7G>A c.3152+7G>A (n.3152+7G>A) c.2132+7G>A (n.2132+7G>A) c.2852+7G>A (n.2852+7G>A) c.3002+7G>A (n.3002+7G>A) c.2975+7G>A (n.2975+7G>A) | gnomAD v4 |
7 | g.150947322C>A | CA2685601770 | KCNH2 | n.3985+6G>T c.3152+6G>T (n.3152+6G>T) c.2132+6G>T (n.2132+6G>T) c.2852+6G>T (n.2852+6G>T) c.3002+6G>T (n.3002+6G>T) c.2975+6G>T (n.2975+6G>T) | gnomAD v4 |
7 | g.150947322C= | CA1752428342 | KCNH2 | n.3985+6G= c.3152+6G= (n.3152+6G=) c.2132+6G= (n.2132+6G=) c.2852+6G= (n.2852+6G=) c.3002+6G= (n.3002+6G=) c.2975+6G= (n.2975+6G=) | |
7 | g.150947322C>T | CA579075350 | KCNH2 | n.3985+6G>A c.3152+6G>A (n.3152+6G>A) c.2132+6G>A (n.2132+6G>A) c.2852+6G>A (n.2852+6G>A) c.3002+6G>A (n.3002+6G>A) c.2975+6G>A (n.2975+6G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947323C>A | CA2685601771 | KCNH2 | n.3985+5G>T c.3152+5G>T (n.3152+5G>T) c.2132+5G>T (n.2132+5G>T) c.2852+5G>T (n.2852+5G>T) c.3002+5G>T (n.3002+5G>T) c.2975+5G>T (n.2975+5G>T) | gnomAD v4 |
7 | g.150947323C>G | CA2685601772 | KCNH2 | n.3985+5G>C c.3152+5G>C (n.3152+5G>C) c.2132+5G>C (n.2132+5G>C) c.2852+5G>C (n.2852+5G>C) c.3002+5G>C (n.3002+5G>C) c.2975+5G>C (n.2975+5G>C) | gnomAD v4 |
7 | g.150947324T>A | CA2685601773 | KCNH2 | n.3985+4A>T c.3152+4A>T (n.3152+4A>T) c.2132+4A>T (n.2132+4A>T) c.2852+4A>T (n.2852+4A>T) c.3002+4A>T (n.3002+4A>T) c.2975+4A>T (n.2975+4A>T) | gnomAD v4 |
7 | g.150947324T>C | CA2685601774 | KCNH2 | n.3985+4A>G c.3152+4A>G (n.3152+4A>G) c.2132+4A>G (n.2132+4A>G) c.2852+4A>G (n.2852+4A>G) c.3002+4A>G (n.3002+4A>G) c.2975+4A>G (n.2975+4A>G) | gnomAD v4 |
7 | g.150947324T>G | CA2499218781 | KCNH2 | n.3985+4A>C c.3152+4A>C (n.3152+4A>C) c.2132+4A>C (n.2132+4A>C) c.2852+4A>C (n.2852+4A>C) c.3002+4A>C (n.3002+4A>C) c.2975+4A>C (n.2975+4A>C) | ClinVar dbSNP |
7 | g.150947325C>A | CA2685601775 | KCNH2 | n.3985+3G>T c.3152+3G>T (n.3152+3G>T) c.2132+3G>T (n.2132+3G>T) c.2852+3G>T (n.2852+3G>T) c.3002+3G>T (n.3002+3G>T) c.2975+3G>T (n.2975+3G>T) | gnomAD v4 |
7 | g.150947325C= | CA1752428345 | KCNH2 | n.3985+3G= c.3152+3G= (n.3152+3G=) c.2132+3G= (n.2132+3G=) c.2852+3G= (n.2852+3G=) c.3002+3G= (n.3002+3G=) c.2975+3G= (n.2975+3G=) | |
7 | g.150947325C>T | CA835221112 | KCNH2 | n.3985+3G>A c.3152+3G>A (n.3152+3G>A) c.2132+3G>A (n.2132+3G>A) c.2852+3G>A (n.2852+3G>A) c.3002+3G>A (n.3002+3G>A) c.2975+3G>A (n.2975+3G>A) | dbSNP gnomAD v4 |
7 | g.150947326A= | CA1752428350 | KCNH2 | n.3985+2T= c.3152+2T= (n.3152+2T=) c.2132+2T= (n.2132+2T=) c.2852+2T= (n.2852+2T=) c.3002+2T= (n.3002+2T=) c.2975+2T= (n.2975+2T=) | |
7 | g.150947326A>C | CA369852458 | KCNH2 | n.3985+2T>G c.3152+2T>G (n.3152+2T>G) c.2132+2T>G (n.2132+2T>G) c.2852+2T>G (n.2852+2T>G) c.3002+2T>G (n.3002+2T>G) c.2975+2T>G (n.2975+2T>G) | |
7 | g.150947326A>G | CA16042589 | KCNH2 | n.3985+2T>C c.3152+2T>C (n.3152+2T>C) c.2132+2T>C (n.2132+2T>C) c.2852+2T>C (n.2852+2T>C) c.3002+2T>C (n.3002+2T>C) c.2975+2T>C (n.2975+2T>C) | ClinVar dbSNP gnomAD v4 |
7 | g.150947326A>T | CA369852459 | KCNH2 | n.3985+2T>A c.3152+2T>A (n.3152+2T>A) c.2132+2T>A (n.2132+2T>A) c.2852+2T>A (n.2852+2T>A) c.3002+2T>A (n.3002+2T>A) c.2975+2T>A (n.2975+2T>A) | gnomAD v4 |
7 | g.150947327C>A | CA16042568 | KCNH2 | n.3985+1G>T c.3152+1G>T (n.3152+1G>T) c.2132+1G>T (n.2132+1G>T) c.2852+1G>T (n.2852+1G>T) c.3002+1G>T (n.3002+1G>T) c.2975+1G>T (n.2975+1G>T) | ClinVar dbSNP gnomAD v4 |
7 | g.150947327C= | CA1752428360 | KCNH2 | n.3985+1G= c.3152+1G= (n.3152+1G=) c.2132+1G= (n.2132+1G=) c.2852+1G= (n.2852+1G=) c.3002+1G= (n.3002+1G=) c.2975+1G= (n.2975+1G=) | |
7 | g.150947327C>G | CA369852462 | KCNH2 | n.3985+1G>C c.3152+1G>C (n.3152+1G>C) c.2132+1G>C (n.2132+1G>C) c.2852+1G>C (n.2852+1G>C) c.3002+1G>C (n.3002+1G>C) c.2975+1G>C (n.2975+1G>C) | |
7 | g.150947327C>T | CA369852464 | KCNH2 | n.3985+1G>A c.3152+1G>A (n.3152+1G>A) c.2132+1G>A (n.2132+1G>A) c.2852+1G>A (n.2852+1G>A) c.3002+1G>A (n.3002+1G>A) c.2975+1G>A (n.2975+1G>A) | gnomAD v4 |
7 | g.150947328C>A | CA369852466 | KCNH2 | n.3985G>T c.3152G>T (p.Arg1051Met) c.2132G>T (p.Arg711Met) c.2852G>T (p.Arg951Met) c.3002G>T (p.Arg1001Met) c.2975G>T (p.Arg992Met) | gnomAD v4 |
7 | g.150947328C>G | CA369852469 | KCNH2 | n.3985G>C c.3152G>C (p.Arg1051Thr) c.2132G>C (p.Arg711Thr) c.2852G>C (p.Arg951Thr) c.3002G>C (p.Arg1001Thr) c.2975G>C (p.Arg992Thr) | |
7 | g.150947328C>T | CA369852468 | KCNH2 | n.3985G>A c.3152G>A (p.Arg1051Lys) c.2132G>A (p.Arg711Lys) c.2852G>A (p.Arg951Lys) c.3002G>A (p.Arg1001Lys) c.2975G>A (p.Arg992Lys) | |
7 | g.150947329T>A | CA369852471 | KCNH2 | n.3984A>T c.3151A>T (p.Arg1051Trp) c.2131A>T (p.Arg711Trp) c.2851A>T (p.Arg951Trp) c.3001A>T (p.Arg1001Trp) c.2974A>T (p.Arg992Trp) | gnomAD v4 |
7 | g.150947329T>C | CA369852472 | KCNH2 | n.3984A>G c.3151A>G (p.Arg1051Gly) c.2131A>G (p.Arg711Gly) c.2851A>G (p.Arg951Gly) c.3001A>G (p.Arg1001Gly) c.2974A>G (p.Arg992Gly) | gnomAD v4 |
7 | g.150947329T>G | CA458644785 | KCNH2 | n.3984A>C c.3151A>C (p.Arg1051=) c.2131A>C (p.Arg711=) c.2851A>C (p.Arg951=) c.3001A>C (p.Arg1001=) c.2974A>C (p.Arg992=) | |
7 | g.150947330G>A | CA458644786 | KCNH2 | n.3983C>T c.3150C>T (p.Asn1050=) c.2130C>T (p.Asn710=) c.2850C>T (p.Asn950=) c.3000C>T (p.Asn1000=) c.2973C>T (p.Asn991=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947330G>C | CA369852474 | KCNH2 | n.3983C>G c.3150C>G (p.Asn1050Lys) c.2130C>G (p.Asn710Lys) c.2850C>G (p.Asn950Lys) c.3000C>G (p.Asn1000Lys) c.2973C>G (p.Asn991Lys) | |
7 | g.150947330G= | CA1752428366 | KCNH2 | n.3983C= c.3150C= (p.Asn1050=) c.2130C= (p.Asn710=) c.2850C= (p.Asn950=) c.3000C= (p.Asn1000=) c.2973C= (p.Asn991=) | |
7 | g.150947330G>T | CA369852476 | KCNH2 | n.3983C>A c.3150C>A (p.Asn1050Lys) c.2130C>A (p.Asn710Lys) c.2850C>A (p.Asn950Lys) c.3000C>A (p.Asn1000Lys) c.2973C>A (p.Asn991Lys) | gnomAD v4 |
7 | g.150947331T>A | CA369852477 | KCNH2 | n.3982A>T c.3149A>T (p.Asn1050Ile) c.2129A>T (p.Asn710Ile) c.2849A>T (p.Asn950Ile) c.2999A>T (p.Asn1000Ile) c.2972A>T (p.Asn991Ile) | |
7 | g.150947331T>C | CA369852480 | KCNH2 | n.3982A>G c.3149A>G (p.Asn1050Ser) c.2129A>G (p.Asn710Ser) c.2849A>G (p.Asn950Ser) c.2999A>G (p.Asn1000Ser) c.2972A>G (p.Asn991Ser) | ClinVar gnomAD v4 |
7 | g.150947331T>G | CA369852478 | KCNH2 | n.3982A>C c.3149A>C (p.Asn1050Thr) c.2129A>C (p.Asn710Thr) c.2849A>C (p.Asn950Thr) c.2999A>C (p.Asn1000Thr) c.2972A>C (p.Asn991Thr) | |
7 | g.150947332T>A | CA369852482 | KCNH2 | n.3981A>T c.3148A>T (p.Asn1050Tyr) c.2128A>T (p.Asn710Tyr) c.2848A>T (p.Asn950Tyr) c.2998A>T (p.Asn1000Tyr) c.2971A>T (p.Asn991Tyr) | gnomAD v4 |
7 | g.150947332T>C | CA369852483 | KCNH2 | n.3981A>G c.3148A>G (p.Asn1050Asp) c.2128A>G (p.Asn710Asp) c.2848A>G (p.Asn950Asp) c.2998A>G (p.Asn1000Asp) c.2971A>G (p.Asn991Asp) | |
7 | g.150947332T>G | CA369852485 | KCNH2 | n.3981A>C c.3148A>C (p.Asn1050His) c.2128A>C (p.Asn710His) c.2848A>C (p.Asn950His) c.2998A>C (p.Asn1000His) c.2971A>C (p.Asn991His) | |
7 | g.150947333G>A | CA169071756 | KCNH2 | n.3980C>T c.3147C>T (p.Leu1049=) c.2127C>T (p.Leu709=) c.2847C>T (p.Leu949=) c.2997C>T (p.Leu999=) c.2970C>T (p.Leu990=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947333G>C | CA458644787 | KCNH2 | n.3980C>G c.3147C>G (p.Leu1049=) c.2127C>G (p.Leu709=) c.2847C>G (p.Leu949=) c.2997C>G (p.Leu999=) c.2970C>G (p.Leu990=) | |
7 | g.150947333G= | CA1752428368 | KCNH2 | n.3980C= c.3147C= (p.Leu1049=) c.2127C= (p.Leu709=) c.2847C= (p.Leu949=) c.2997C= (p.Leu999=) c.2970C= (p.Leu990=) | |
7 | g.150947333G>T | CA458644788 | KCNH2 | n.3980C>A c.3147C>A (p.Leu1049=) c.2127C>A (p.Leu709=) c.2847C>A (p.Leu949=) c.2997C>A (p.Leu999=) c.2970C>A (p.Leu990=) | gnomAD v4 |
7 | g.150947334A= | CA1752428375 | KCNH2 | n.3979T= c.3146T= (p.Leu1049=) c.2126T= (p.Leu709=) c.2846T= (p.Leu949=) c.2996T= (p.Leu999=) c.2969T= (p.Leu990=) | |
7 | g.150947334A>C | CA369852487 | KCNH2 | n.3979T>G c.3146T>G (p.Leu1049Arg) c.2126T>G (p.Leu709Arg) c.2846T>G (p.Leu949Arg) c.2996T>G (p.Leu999Arg) c.2969T>G (p.Leu990Arg) | |
7 | g.150947334A>G | CA008049 | KCNH2 | n.3979T>C c.3146T>C (p.Leu1049Pro) c.2126T>C (p.Leu709Pro) c.2846T>C (p.Leu949Pro) c.2996T>C (p.Leu999Pro) c.2969T>C (p.Leu990Pro) | ClinVar dbSNP gnomAD v4 |
7 | g.150947334A>T | CA369852489 | KCNH2 | n.3979T>A c.3146T>A (p.Leu1049His) c.2126T>A (p.Leu709His) c.2846T>A (p.Leu949His) c.2996T>A (p.Leu999His) c.2969T>A (p.Leu990His) | |
7 | g.150947335G>A | CA369852494 | KCNH2 | n.3978C>T c.3145C>T (p.Leu1049Phe) c.2125C>T (p.Leu709Phe) c.2845C>T (p.Leu949Phe) c.2995C>T (p.Leu999Phe) c.2968C>T (p.Leu990Phe) | gnomAD v4 |
7 | g.150947335G>C | CA369852491 | KCNH2 | n.3978C>G c.3145C>G (p.Leu1049Val) c.2125C>G (p.Leu709Val) c.2845C>G (p.Leu949Val) c.2995C>G (p.Leu999Val) c.2968C>G (p.Leu990Val) | |
7 | g.150947335G>T | CA369852493 | KCNH2 | n.3978C>A c.3145C>A (p.Leu1049Ile) c.2125C>A (p.Leu709Ile) c.2845C>A (p.Leu949Ile) c.2995C>A (p.Leu999Ile) c.2968C>A (p.Leu990Ile) | gnomAD v4 |
7 | g.150947336C>A | CA369852496 | KCNH2 | n.3977G>T c.3144G>T (p.Gln1048His) c.2124G>T (p.Gln708His) c.2844G>T (p.Gln948His) c.2994G>T (p.Gln998His) c.2967G>T (p.Gln989His) | gnomAD v4 |
7 | g.150947336C= | CA1752428381 | KCNH2 | n.3977G= c.3144G= (p.Gln1048=) c.2124G= (p.Gln708=) c.2844G= (p.Gln948=) c.2994G= (p.Gln998=) c.2967G= (p.Gln989=) | |
7 | g.150947336C>G | CA369852498 | KCNH2 | n.3977G>C c.3144G>C (p.Gln1048His) c.2124G>C (p.Gln708His) c.2844G>C (p.Gln948His) c.2994G>C (p.Gln998His) c.2967G>C (p.Gln989His) | |
7 | g.150947336C>T | CA458644792 | KCNH2 | n.3977G>A c.3144G>A (p.Gln1048=) c.2124G>A (p.Gln708=) c.2844G>A (p.Gln948=) c.2994G>A (p.Gln998=) c.2967G>A (p.Gln989=) | dbSNP gnomAD v2 |
7 | g.150947337T>A | CA369852500 | KCNH2 | n.3976A>T c.3143A>T (p.Gln1048Leu) c.2123A>T (p.Gln708Leu) c.2843A>T (p.Gln948Leu) c.2993A>T (p.Gln998Leu) c.2966A>T (p.Gln989Leu) | |
7 | g.150947337T>C | CA369852501 | KCNH2 | n.3976A>G c.3143A>G (p.Gln1048Arg) c.2123A>G (p.Gln708Arg) c.2843A>G (p.Gln948Arg) c.2993A>G (p.Gln998Arg) c.2966A>G (p.Gln989Arg) | gnomAD v4 |
7 | g.150947337T>G | CA369852503 | KCNH2 | n.3976A>C c.3143A>C (p.Gln1048Pro) c.2123A>C (p.Gln708Pro) c.2843A>C (p.Gln948Pro) c.2993A>C (p.Gln998Pro) c.2966A>C (p.Gln989Pro) | gnomAD v4 |
7 | g.150947338G>A | CA369852505 | KCNH2 | n.3975C>T c.3142C>T (p.Gln1048Ter) c.2122C>T (p.Gln708Ter) c.2842C>T (p.Gln948Ter) c.2992C>T (p.Gln998Ter) c.2965C>T (p.Gln989Ter) | gnomAD v4 |
7 | g.150947338G>C | CA369852508 | KCNH2 | n.3975C>G c.3142C>G (p.Gln1048Glu) c.2122C>G (p.Gln708Glu) c.2842C>G (p.Gln948Glu) c.2992C>G (p.Gln998Glu) c.2965C>G (p.Gln989Glu) | gnomAD v4 |
7 | g.150947338G>T | CA369852506 | KCNH2 | n.3975C>A c.3142C>A (p.Gln1048Lys) c.2122C>A (p.Gln708Lys) c.2842C>A (p.Gln948Lys) c.2992C>A (p.Gln998Lys) c.2965C>A (p.Gln989Lys) | gnomAD v4 |
7 | g.150947339G>A | CA458644794 | KCNH2 | n.3974C>T c.3141C>T (p.Arg1047=) c.2121C>T (p.Arg707=) c.2841C>T (p.Arg947=) c.2991C>T (p.Arg997=) c.2964C>T (p.Arg988=) | dbSNP |
7 | g.150947339G>C | CA458644795 | KCNH2 | n.3974C>G c.3141C>G (p.Arg1047=) c.2121C>G (p.Arg707=) c.2841C>G (p.Arg947=) c.2991C>G (p.Arg997=) c.2964C>G (p.Arg988=) | |
7 | g.150947339G= | CA1752428383 | KCNH2 | n.3974C= c.3141C= (p.Arg1047=) c.2121C= (p.Arg707=) c.2841C= (p.Arg947=) c.2991C= (p.Arg997=) c.2964C= (p.Arg988=) | |
7 | g.150947339G>T | CA458644796 | KCNH2 | n.3974C>A c.3141C>A (p.Arg1047=) c.2121C>A (p.Arg707=) c.2841C>A (p.Arg947=) c.2991C>A (p.Arg997=) c.2964C>A (p.Arg988=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947340del | CA2778425741 | KCNH2 | n.3973del c.3140del (p.Arg1047ProfsTer10) c.2120del (p.Arg707ProfsTer10) c.2840del (p.Arg947ProfsTer10) c.2990del (p.Arg997ProfsTer10) c.2963del (p.Arg988ProfsTer10) | |
7 | g.150947340C>A | CA008041 | KCNH2 | n.3973G>T c.3140G>T (p.Arg1047Leu) c.2120G>T (p.Arg707Leu) c.2840G>T (p.Arg947Leu) c.2990G>T (p.Arg997Leu) c.2963G>T (p.Arg988Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947340C= | CA1752428387 | KCNH2 | n.3973G= c.3140G= (p.Arg1047=) c.2120G= (p.Arg707=) c.2840G= (p.Arg947=) c.2990G= (p.Arg997=) c.2963G= (p.Arg988=) | |
7 | g.150947340C>G | CA369852510 | KCNH2 | n.3973G>C c.3140G>C (p.Arg1047Pro) c.2120G>C (p.Arg707Pro) c.2840G>C (p.Arg947Pro) c.2990G>C (p.Arg997Pro) c.2963G>C (p.Arg988Pro) | |
7 | g.150947340C>T | CA369852511 | KCNH2 | n.3973G>A c.3140G>A (p.Arg1047His) c.2120G>A (p.Arg707His) c.2840G>A (p.Arg947His) c.2990G>A (p.Arg997His) c.2963G>A (p.Arg988His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947341G>A | CA008033 | KCNH2 | n.3972C>T c.3139C>T (p.Arg1047Cys) c.2119C>T (p.Arg707Cys) c.2839C>T (p.Arg947Cys) c.2989C>T (p.Arg997Cys) c.2962C>T (p.Arg988Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947341G>C | CA369852513 | KCNH2 | n.3972C>G c.3139C>G (p.Arg1047Gly) c.2119C>G (p.Arg707Gly) c.2839C>G (p.Arg947Gly) c.2989C>G (p.Arg997Gly) c.2962C>G (p.Arg988Gly) | |
7 | g.150947341G= | CA1752428404 | KCNH2 | n.3972C= c.3139C= (p.Arg1047=) c.2119C= (p.Arg707=) c.2839C= (p.Arg947=) c.2989C= (p.Arg997=) c.2962C= (p.Arg988=) | |
7 | g.150947341G>T | CA369852514 | KCNH2 | n.3972C>A c.3139C>A (p.Arg1047Ser) c.2119C>A (p.Arg707Ser) c.2839C>A (p.Arg947Ser) c.2989C>A (p.Arg997Ser) c.2962C>A (p.Arg988Ser) | gnomAD v4 |
7 | g.150947342C>A | CA369852516 | KCNH2 | n.3971G>T c.3138G>T (p.Gln1046His) c.2118G>T (p.Gln706His) c.2838G>T (p.Gln946His) c.2988G>T (p.Gln996His) c.2961G>T (p.Gln987His) | ClinVar dbSNP gnomAD v4 |
7 | g.150947342C= | CA1752428407 | KCNH2 | n.3971G= c.3138G= (p.Gln1046=) c.2118G= (p.Gln706=) c.2838G= (p.Gln946=) c.2988G= (p.Gln996=) c.2961G= (p.Gln987=) | |
7 | g.150947342C>G | CA369852517 | KCNH2 | n.3971G>C c.3138G>C (p.Gln1046His) c.2118G>C (p.Gln706His) c.2838G>C (p.Gln946His) c.2988G>C (p.Gln996His) c.2961G>C (p.Gln987His) | |
7 | g.150947342C>T | CA458644797 | KCNH2 | n.3971G>A c.3138G>A (p.Gln1046=) c.2118G>A (p.Gln706=) c.2838G>A (p.Gln946=) c.2988G>A (p.Gln996=) c.2961G>A (p.Gln987=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947343T>A | CA369852519 | KCNH2 | n.3970A>T c.3137A>T (p.Gln1046Leu) c.2117A>T (p.Gln706Leu) c.2837A>T (p.Gln946Leu) c.2987A>T (p.Gln996Leu) c.2960A>T (p.Gln987Leu) | gnomAD v4 |
7 | g.150947343T>C | CA369852521 | KCNH2 | n.3970A>G c.3137A>G (p.Gln1046Arg) c.2117A>G (p.Gln706Arg) c.2837A>G (p.Gln946Arg) c.2987A>G (p.Gln996Arg) c.2960A>G (p.Gln987Arg) | ClinVar dbSNP |
7 | g.150947343T>G | CA369852522 | KCNH2 | n.3970A>C c.3137A>C (p.Gln1046Pro) c.2117A>C (p.Gln706Pro) c.2837A>C (p.Gln946Pro) c.2987A>C (p.Gln996Pro) c.2960A>C (p.Gln987Pro) | |
7 | g.150947343T= | CA1752428420 | KCNH2 | n.3970A= c.3137A= (p.Gln1046=) c.2117A= (p.Gln706=) c.2837A= (p.Gln946=) c.2987A= (p.Gln996=) c.2960A= (p.Gln987=) | |
7 | g.150947343_150947344delinsTG | CA1752428417 | KCNH2 | n.3969_3970delinsCA c.3136_3137delinsCA (p.Gln1046=) c.2116_2117delinsCA (p.Gln706=) c.2836_2837delinsCA (p.Gln946=) c.2986_2987delinsCA (p.Gln996=) c.2959_2960delinsCA (p.Gln987=) | |
7 | g.150947343_150947347delinsTGGAG | CA1752428418 | KCNH2 | n.3966_3970delinsCTCCA c.3133_3137delinsCTCCA (p.Leu1045=) c.2113_2117delinsCTCCA (p.Leu705=) c.2833_2837delinsCTCCA (p.Leu945=) c.2983_2987delinsCTCCA (p.Leu995=) c.2956_2960delinsCTCCA (p.Leu986=) | |
7 | g.150947344G>A | CA369852526 | KCNH2 | n.3969C>T c.3136C>T (p.Gln1046Ter) c.2116C>T (p.Gln706Ter) c.2836C>T (p.Gln946Ter) c.2986C>T (p.Gln996Ter) c.2959C>T (p.Gln987Ter) | ClinVar gnomAD v4 |
7 | g.150947344G>C | CA369852523 | KCNH2 | n.3969C>G c.3136C>G (p.Gln1046Glu) c.2116C>G (p.Gln706Glu) c.2836C>G (p.Gln946Glu) c.2986C>G (p.Gln996Glu) c.2959C>G (p.Gln987Glu) | gnomAD v4 |
7 | g.150947344G>T | CA369852524 | KCNH2 | n.3969C>A c.3136C>A (p.Gln1046Lys) c.2116C>A (p.Gln706Lys) c.2836C>A (p.Gln946Lys) c.2986C>A (p.Gln996Lys) c.2959C>A (p.Gln987Lys) | gnomAD v4 |
7 | g.150947345del | CA008026 | KCNH2 | n.3969del c.3136del (p.Gln1046SerfsTer11) c.2116del (p.Gln706SerfsTer11) c.2836del (p.Gln946SerfsTer11) c.2986del (p.Gln996SerfsTer11) c.2959del (p.Gln987SerfsTer11) | ClinVar dbSNP |
7 | g.150947346_150947349del | CA915945566 | KCNH2 | n.3966_3969del c.3133_3136del (p.Leu1045SerfsTer11) c.2113_2116del (p.Leu705SerfsTer11) c.2833_2836del (p.Leu945SerfsTer11) c.2983_2986del (p.Leu995SerfsTer11) c.2956_2959del (p.Leu986SerfsTer11) | ClinVar dbSNP |
7 | g.150947345G>A | CA458644801 | KCNH2 | n.3968C>T c.3135C>T (p.Leu1045=) c.2115C>T (p.Leu705=) c.2835C>T (p.Leu945=) c.2985C>T (p.Leu995=) c.2958C>T (p.Leu986=) | |
7 | g.150947345G>C | CA458644802 | KCNH2 | n.3968C>G c.3135C>G (p.Leu1045=) c.2115C>G (p.Leu705=) c.2835C>G (p.Leu945=) c.2985C>G (p.Leu995=) c.2958C>G (p.Leu986=) | gnomAD v4 |
7 | g.150947345G>T | CA458644803 | KCNH2 | n.3968C>A c.3135C>A (p.Leu1045=) c.2115C>A (p.Leu705=) c.2835C>A (p.Leu945=) c.2985C>A (p.Leu995=) c.2958C>A (p.Leu986=) | gnomAD v4 |
7 | g.150947346A= | CA1752428433 | KCNH2 | n.3967T= c.3134T= (p.Leu1045=) c.2114T= (p.Leu705=) c.2834T= (p.Leu945=) c.2984T= (p.Leu995=) c.2957T= (p.Leu986=) | |
7 | g.150947346A>C | CA369852529 | KCNH2 | n.3967T>G c.3134T>G (p.Leu1045Arg) c.2114T>G (p.Leu705Arg) c.2834T>G (p.Leu945Arg) c.2984T>G (p.Leu995Arg) c.2957T>G (p.Leu986Arg) | ClinVar dbSNP |
7 | g.150947346A>G | CA369852528 | KCNH2 | n.3967T>C c.3134T>C (p.Leu1045Pro) c.2114T>C (p.Leu705Pro) c.2834T>C (p.Leu945Pro) c.2984T>C (p.Leu995Pro) c.2957T>C (p.Leu986Pro) | gnomAD v4 |
7 | g.150947346A>T | CA369852531 | KCNH2 | n.3967T>A c.3134T>A (p.Leu1045His) c.2114T>A (p.Leu705His) c.2834T>A (p.Leu945His) c.2984T>A (p.Leu995His) c.2957T>A (p.Leu986His) | gnomAD v4 |
7 | g.150947347G>A | CA008015 | KCNH2 | n.3966C>T c.3133C>T (p.Leu1045Phe) c.2113C>T (p.Leu705Phe) c.2833C>T (p.Leu945Phe) c.2983C>T (p.Leu995Phe) c.2956C>T (p.Leu986Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947347G>C | CA369852535 | KCNH2 | n.3966C>G c.3133C>G (p.Leu1045Val) c.2113C>G (p.Leu705Val) c.2833C>G (p.Leu945Val) c.2983C>G (p.Leu995Val) c.2956C>G (p.Leu986Val) | |
7 | g.150947347G= | CA1752428439 | KCNH2 | n.3966C= c.3133C= (p.Leu1045=) c.2113C= (p.Leu705=) c.2833C= (p.Leu945=) c.2983C= (p.Leu995=) c.2956C= (p.Leu986=) | |
7 | g.150947347G>T | CA369852534 | KCNH2 | n.3966C>A c.3133C>A (p.Leu1045Ile) c.2113C>A (p.Leu705Ile) c.2833C>A (p.Leu945Ile) c.2983C>A (p.Leu995Ile) c.2956C>A (p.Leu986Ile) | ClinVar dbSNP gnomAD v4 |
7 | g.150947349del | CA2685601787 | KCNH2 | n.3966del c.3133del (p.Leu1045SerfsTer12) c.2113del (p.Leu705SerfsTer12) c.2833del (p.Leu945SerfsTer12) c.2983del (p.Leu995SerfsTer12) c.2956del (p.Leu986SerfsTer12) | gnomAD v4 |
7 | g.150947348G>A | CA169071780 | KCNH2 | n.3965C>T c.3132C>T (p.Ala1044=) c.2112C>T (p.Ala704=) c.2832C>T (p.Ala944=) c.2982C>T (p.Ala994=) c.2955C>T (p.Ala985=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150947348G>C | CA458644805 | KCNH2 | n.3965C>G c.3132C>G (p.Ala1044=) c.2112C>G (p.Ala704=) c.2832C>G (p.Ala944=) c.2982C>G (p.Ala994=) c.2955C>G (p.Ala985=) | |
7 | g.150947348G= | CA1752428445 | KCNH2 | n.3965C= c.3132C= (p.Ala1044=) c.2112C= (p.Ala704=) c.2832C= (p.Ala944=) c.2982C= (p.Ala994=) c.2955C= (p.Ala985=) | |
7 | g.150947348G>T | CA458644806 | KCNH2 | n.3965C>A c.3132C>A (p.Ala1044=) c.2112C>A (p.Ala704=) c.2832C>A (p.Ala944=) c.2982C>A (p.Ala994=) c.2955C>A (p.Ala985=) | gnomAD v4 |
7 | g.150947349G>A | CA369852538 | KCNH2 | n.3964C>T c.3131C>T (p.Ala1044Val) c.2111C>T (p.Ala704Val) c.2831C>T (p.Ala944Val) c.2981C>T (p.Ala994Val) c.2954C>T (p.Ala985Val) | ClinVar gnomAD v4 COSMIC COSMIC |
7 | g.150947349G>C | CA369852540 | KCNH2 | n.3964C>G c.3131C>G (p.Ala1044Gly) c.2111C>G (p.Ala704Gly) c.2831C>G (p.Ala944Gly) c.2981C>G (p.Ala994Gly) c.2954C>G (p.Ala985Gly) | |
7 | g.150947349G>T | CA369852541 | KCNH2 | n.3964C>A c.3131C>A (p.Ala1044Asp) c.2111C>A (p.Ala704Asp) c.2831C>A (p.Ala944Asp) c.2981C>A (p.Ala994Asp) c.2954C>A (p.Ala985Asp) | gnomAD v4 |
7 | g.150947350C>A | CA369852543 | KCNH2 | n.3963G>T c.3130G>T (p.Ala1044Ser) c.2110G>T (p.Ala704Ser) c.2830G>T (p.Ala944Ser) c.2980G>T (p.Ala994Ser) c.2953G>T (p.Ala985Ser) | |
7 | g.150947350C>G | CA369852544 | KCNH2 | n.3963G>C c.3130G>C (p.Ala1044Pro) c.2110G>C (p.Ala704Pro) c.2830G>C (p.Ala944Pro) c.2980G>C (p.Ala994Pro) c.2953G>C (p.Ala985Pro) | |
7 | g.150947350C>T | CA369852546 | KCNH2 | n.3963G>A c.3130G>A (p.Ala1044Thr) c.2110G>A (p.Ala704Thr) c.2830G>A (p.Ala944Thr) c.2980G>A (p.Ala994Thr) c.2953G>A (p.Ala985Thr) | gnomAD v4 |
7 | g.150947350_150947368delinsCATCCAGCCTGCTCTCCAC | CA1752428447 | KCNH2 | n.3945_3963delinsGTGGAGAGCAGGCTGGATG c.3112_3130delinsGTGGAGAGCAGGCTGGATG (p.Val1038=) c.2092_2110delinsGTGGAGAGCAGGCTGGATG (p.Val698=) c.2812_2830delinsGTGGAGAGCAGGCTGGATG (p.Val938=) c.2962_2980delinsGTGGAGAGCAGGCTGGATG (p.Val988=) c.2935_2953delinsGTGGAGAGCAGGCTGGATG (p.Val979=) | |
7 | g.150947351A>C | CA369852548 | KCNH2 | n.3962T>G c.3129T>G (p.Asp1043Glu) c.2109T>G (p.Asp703Glu) c.2829T>G (p.Asp943Glu) c.2979T>G (p.Asp993Glu) c.2952T>G (p.Asp984Glu) | |
7 | g.150947351A>G | CA458644807 | KCNH2 | n.3962T>C c.3129T>C (p.Asp1043=) c.2109T>C (p.Asp703=) c.2829T>C (p.Asp943=) c.2979T>C (p.Asp993=) c.2952T>C (p.Asp984=) | ClinVar dbSNP gnomAD v4 |
7 | g.150947351A>T | CA369852550 | KCNH2 | n.3962T>A c.3129T>A (p.Asp1043Glu) c.2109T>A (p.Asp703Glu) c.2829T>A (p.Asp943Glu) c.2979T>A (p.Asp993Glu) c.2952T>A (p.Asp984Glu) | |
7 | g.150947351_150947368delinsTG | CA007983 | KCNH2 | n.3945_3962delinsCA c.3112_3129delinsCA (p.Val1038GlnfsTer14) c.2092_2109delinsCA (p.Val698GlnfsTer14) c.2812_2829delinsCA (p.Val938GlnfsTer14) c.2962_2979delinsCA (p.Val988GlnfsTer14) c.2935_2952delinsCA (p.Val979GlnfsTer14) | ClinVar dbSNP |
7 | g.150947352T>A | CA169071795 | KCNH2 | n.3961A>T c.3128A>T (p.Asp1043Val) c.2108A>T (p.Asp703Val) c.2828A>T (p.Asp943Val) c.2978A>T (p.Asp993Val) c.2951A>T (p.Asp984Val) | dbSNP gnomAD v4 |
7 | g.150947352T>C | CA369852553 | KCNH2 | n.3961A>G c.3128A>G (p.Asp1043Gly) c.2108A>G (p.Asp703Gly) c.2828A>G (p.Asp943Gly) c.2978A>G (p.Asp993Gly) c.2951A>G (p.Asp984Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947352T>G | CA369852555 | KCNH2 | n.3961A>C c.3128A>C (p.Asp1043Ala) c.2108A>C (p.Asp703Ala) c.2828A>C (p.Asp943Ala) c.2978A>C (p.Asp993Ala) c.2951A>C (p.Asp984Ala) | gnomAD v4 |
7 | g.150947352T= | CA1752428456 | KCNH2 | n.3961A= c.3128A= (p.Asp1043=) c.2108A= (p.Asp703=) c.2828A= (p.Asp943=) c.2978A= (p.Asp993=) c.2951A= (p.Asp984=) | |
7 | g.150947352_150947373delinsTCCAGCCTGCTCTCCACGTCGC | CA1752428458 | KCNH2 | n.3940_3961delinsGCGACGTGGAGAGCAGGCTGGA c.3107_3128delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly1036=) c.2087_2108delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly696=) c.2807_2828delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly936=) c.2957_2978delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly986=) c.2930_2951delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly977=) | |
7 | g.150947353C>A | CA369852560 | KCNH2 | n.3960G>T c.3127G>T (p.Asp1043Tyr) c.2107G>T (p.Asp703Tyr) c.2827G>T (p.Asp943Tyr) c.2977G>T (p.Asp993Tyr) c.2950G>T (p.Asp984Tyr) | gnomAD v4 |
7 | g.150947353C>G | CA369852556 | KCNH2 | n.3960G>C c.3127G>C (p.Asp1043His) c.2107G>C (p.Asp703His) c.2827G>C (p.Asp943His) c.2977G>C (p.Asp993His) c.2950G>C (p.Asp984His) | |
7 | g.150947353C>T | CA369852558 | KCNH2 | n.3960G>A c.3127G>A (p.Asp1043Asn) c.2107G>A (p.Asp703Asn) c.2827G>A (p.Asp943Asn) c.2977G>A (p.Asp993Asn) c.2950G>A (p.Asp984Asn) | gnomAD v4 COSMIC COSMIC |
7 | g.150947355_150947375del | CA16612102 | KCNH2 | n.3940_3960del c.3107_3127del (p.Gly1036_Leu1042del) c.2087_2107del (p.Gly696_Leu702del) c.2807_2827del (p.Gly936_Leu942del) c.2957_2977del (p.Gly986_Leu992del) c.2930_2950del (p.Gly977_Leu983del) | ClinVar dbSNP |
7 | g.150947354C>A | CA458644808 | KCNH2 | n.3959G>T c.3126G>T (p.Leu1042=) c.2106G>T (p.Leu702=) c.2826G>T (p.Leu942=) c.2976G>T (p.Leu992=) c.2949G>T (p.Leu983=) | gnomAD v4 |
7 | g.150947354C>G | CA458644809 | KCNH2 | n.3959G>C c.3126G>C (p.Leu1042=) c.2106G>C (p.Leu702=) c.2826G>C (p.Leu942=) c.2976G>C (p.Leu992=) c.2949G>C (p.Leu983=) | |
7 | g.150947354C>T | CA458644811 | KCNH2 | n.3959G>A c.3126G>A (p.Leu1042=) c.2106G>A (p.Leu702=) c.2826G>A (p.Leu942=) c.2976G>A (p.Leu992=) c.2949G>A (p.Leu983=) | ClinVar gnomAD v4 |
7 | g.150947355A= | CA1752428469 | KCNH2 | n.3958T= c.3125T= (p.Leu1042=) c.2105T= (p.Leu702=) c.2825T= (p.Leu942=) c.2975T= (p.Leu992=) c.2948T= (p.Leu983=) | |
7 | g.150947355A>C | CA369852561 | KCNH2 | n.3958T>G c.3125T>G (p.Leu1042Arg) c.2105T>G (p.Leu702Arg) c.2825T>G (p.Leu942Arg) c.2975T>G (p.Leu992Arg) c.2948T>G (p.Leu983Arg) | |
7 | g.150947355A>G | CA10587639 | KCNH2 | n.3958T>C c.3125T>C (p.Leu1042Pro) c.2105T>C (p.Leu702Pro) c.2825T>C (p.Leu942Pro) c.2975T>C (p.Leu992Pro) c.2948T>C (p.Leu983Pro) | ClinVar dbSNP |
7 | g.150947355A>T | CA369852563 | KCNH2 | n.3958T>A c.3125T>A (p.Leu1042Gln) c.2105T>A (p.Leu702Gln) c.2825T>A (p.Leu942Gln) c.2975T>A (p.Leu992Gln) c.2948T>A (p.Leu983Gln) | |
7 | g.150947355_150947377del | CA2695208777 | KCNH2 | n.3936_3958del c.3103_3125del (p.Arg1035GlyfsTer?) c.2083_2105del (p.Arg695GlyfsTer?) c.2803_2825del (p.Arg935GlyfsTer?) c.2953_2975del (p.Arg985GlyfsTer?) c.2926_2948del (p.Arg976GlyfsTer?) | |
7 | g.150947356G>A | CA458644812 | KCNH2 | n.3957C>T c.3124C>T (p.Leu1042=) c.2104C>T (p.Leu702=) c.2824C>T (p.Leu942=) c.2974C>T (p.Leu992=) c.2947C>T (p.Leu983=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947356G>C | CA369852565 | KCNH2 | n.3957C>G c.3124C>G (p.Leu1042Val) c.2104C>G (p.Leu702Val) c.2824C>G (p.Leu942Val) c.2974C>G (p.Leu992Val) c.2947C>G (p.Leu983Val) | ClinVar dbSNP |
7 | g.150947356G= | CA1752428475 | KCNH2 | n.3957C= c.3124C= (p.Leu1042=) c.2104C= (p.Leu702=) c.2824C= (p.Leu942=) c.2974C= (p.Leu992=) c.2947C= (p.Leu983=) | |
7 | g.150947356G>T | CA369852567 | KCNH2 | n.3957C>A c.3124C>A (p.Leu1042Met) c.2104C>A (p.Leu702Met) c.2824C>A (p.Leu942Met) c.2974C>A (p.Leu992Met) c.2947C>A (p.Leu983Met) | gnomAD v4 |
7 | g.150947357_150947402del | CA2695208778 | KCNH2 | n.3912_3957del c.3079_3124del (p.Leu1027TrpfsTer15) c.2059_2104del (p.Leu687TrpfsTer15) c.2779_2824del (p.Leu927TrpfsTer15) c.2929_2974del (p.Leu977TrpfsTer15) c.2902_2947del (p.Leu968TrpfsTer15) | |
7 | g.150947357C>A | CA369852569 | KCNH2 | n.3956G>T c.3123G>T (p.Arg1041Ser) c.2103G>T (p.Arg701Ser) c.2823G>T (p.Arg941Ser) c.2973G>T (p.Arg991Ser) c.2946G>T (p.Arg982Ser) | gnomAD v4 |
7 | g.150947357C= | CA1752428480 | KCNH2 | n.3956G= c.3123G= (p.Arg1041=) c.2103G= (p.Arg701=) c.2823G= (p.Arg941=) c.2973G= (p.Arg991=) c.2946G= (p.Arg982=) | |
7 | g.150947357C>G | CA369852570 | KCNH2 | n.3956G>C c.3123G>C (p.Arg1041Ser) c.2103G>C (p.Arg701Ser) c.2823G>C (p.Arg941Ser) c.2973G>C (p.Arg991Ser) c.2946G>C (p.Arg982Ser) | dbSNP |
7 | g.150947357C>T | CA458644814 | KCNH2 | n.3956G>A c.3123G>A (p.Arg1041=) c.2103G>A (p.Arg701=) c.2823G>A (p.Arg941=) c.2973G>A (p.Arg991=) c.2946G>A (p.Arg982=) | gnomAD v4 |
7 | g.150947358C>A | CA369852571 | KCNH2 | n.3955G>T c.3122G>T (p.Arg1041Met) c.2102G>T (p.Arg701Met) c.2822G>T (p.Arg941Met) c.2972G>T (p.Arg991Met) c.2945G>T (p.Arg982Met) | |
7 | g.150947358C>G | CA369852573 | KCNH2 | n.3955G>C c.3122G>C (p.Arg1041Thr) c.2102G>C (p.Arg701Thr) c.2822G>C (p.Arg941Thr) c.2972G>C (p.Arg991Thr) c.2945G>C (p.Arg982Thr) | gnomAD v4 |
7 | g.150947358C>T | CA369852575 | KCNH2 | n.3955G>A c.3122G>A (p.Arg1041Lys) c.2102G>A (p.Arg701Lys) c.2822G>A (p.Arg941Lys) c.2972G>A (p.Arg991Lys) c.2945G>A (p.Arg982Lys) | ClinVar dbSNP |
7 | g.150947358_150947377delinsTGGA | CA2695208779 | KCNH2 | n.3936_3955delinsTCCA c.3103_3122delinsTCCA (p.Arg1035SerfsTer17) c.2083_2102delinsTCCA (p.Arg695SerfsTer17) c.2803_2822delinsTCCA (p.Arg935SerfsTer17) c.2953_2972delinsTCCA (p.Arg985SerfsTer17) c.2926_2945delinsTCCA (p.Arg976SerfsTer17) | |
7 | g.150947359T>A | CA369852577 | KCNH2 | n.3954A>T c.3121A>T (p.Arg1041Trp) c.2101A>T (p.Arg701Trp) c.2821A>T (p.Arg941Trp) c.2971A>T (p.Arg991Trp) c.2944A>T (p.Arg982Trp) | |
7 | g.150947359T>C | CA369852578 | KCNH2 | n.3954A>G c.3121A>G (p.Arg1041Gly) c.2101A>G (p.Arg701Gly) c.2821A>G (p.Arg941Gly) c.2971A>G (p.Arg991Gly) c.2944A>G (p.Arg982Gly) | |
7 | g.150947359T>G | CA458644815 | KCNH2 | n.3954A>C c.3121A>C (p.Arg1041=) c.2101A>C (p.Arg701=) c.2821A>C (p.Arg941=) c.2971A>C (p.Arg991=) c.2944A>C (p.Arg982=) | gnomAD v4 |
7 | g.150947360G>A | CA037147 | KCNH2 | n.3953C>T c.3120C>T (p.Ser1040=) c.2100C>T (p.Ser700=) c.2820C>T (p.Ser940=) c.2970C>T (p.Ser990=) c.2943C>T (p.Ser981=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947360G>C | CA369852581 | KCNH2 | n.3953C>G c.3120C>G (p.Ser1040Arg) c.2100C>G (p.Ser700Arg) c.2820C>G (p.Ser940Arg) c.2970C>G (p.Ser990Arg) c.2943C>G (p.Ser981Arg) | |
7 | g.150947360G= | CA1752428484 | KCNH2 | n.3953C= c.3120C= (p.Ser1040=) c.2100C= (p.Ser700=) c.2820C= (p.Ser940=) c.2970C= (p.Ser990=) c.2943C= (p.Ser981=) | |
7 | g.150947360G>T | CA369852579 | KCNH2 | n.3953C>A c.3120C>A (p.Ser1040Arg) c.2100C>A (p.Ser700Arg) c.2820C>A (p.Ser940Arg) c.2970C>A (p.Ser990Arg) c.2943C>A (p.Ser981Arg) | gnomAD v4 |
7 | g.150947360_150947377delinsCCGCCGACCC | CA2580614279 | KCNH2 | n.3936_3953delinsGGGTCGGCGG c.3103_3120delinsGGGTCGGCGG (p.Arg1035GlyfsTer?) c.2083_2100delinsGGGTCGGCGG (p.Arg695GlyfsTer?) c.2803_2820delinsGGGTCGGCGG (p.Arg935GlyfsTer?) c.2953_2970delinsGGGTCGGCGG (p.Arg985GlyfsTer?) c.2926_2943delinsGGGTCGGCGG (p.Arg976GlyfsTer?) | ClinVar |
7 | g.150947361C>A | CA369852582 | KCNH2 | n.3952G>T c.3119G>T (p.Ser1040Ile) c.2099G>T (p.Ser700Ile) c.2819G>T (p.Ser940Ile) c.2969G>T (p.Ser990Ile) c.2942G>T (p.Ser981Ile) | gnomAD v4 |
7 | g.150947361C= | CA1752428488 | KCNH2 | n.3952G= c.3119G= (p.Ser1040=) c.2099G= (p.Ser700=) c.2819G= (p.Ser940=) c.2969G= (p.Ser990=) c.2942G= (p.Ser981=) | |
7 | g.150947361C>G | CA369852583 | KCNH2 | n.3952G>C c.3119G>C (p.Ser1040Thr) c.2099G>C (p.Ser700Thr) c.2819G>C (p.Ser940Thr) c.2969G>C (p.Ser990Thr) c.2942G>C (p.Ser981Thr) | |
7 | g.150947361C>T | CA008007 | KCNH2 | n.3952G>A c.3119G>A (p.Ser1040Asn) c.2099G>A (p.Ser700Asn) c.2819G>A (p.Ser940Asn) c.2969G>A (p.Ser990Asn) c.2942G>A (p.Ser981Asn) | ClinVar dbSNP |
7 | g.150947362T>A | CA369852585 | KCNH2 | n.3951A>T c.3118A>T (p.Ser1040Cys) c.2098A>T (p.Ser700Cys) c.2818A>T (p.Ser940Cys) c.2968A>T (p.Ser990Cys) c.2941A>T (p.Ser981Cys) | |
7 | g.150947362T>C | CA008000 | KCNH2 | n.3951A>G c.3118A>G (p.Ser1040Gly) c.2098A>G (p.Ser700Gly) c.2818A>G (p.Ser940Gly) c.2968A>G (p.Ser990Gly) c.2941A>G (p.Ser981Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947362T>G | CA369852586 | KCNH2 | n.3951A>C c.3118A>C (p.Ser1040Arg) c.2098A>C (p.Ser700Arg) c.2818A>C (p.Ser940Arg) c.2968A>C (p.Ser990Arg) c.2941A>C (p.Ser981Arg) | |
7 | g.150947362T= | CA1752428493 | KCNH2 | n.3951A= c.3118A= (p.Ser1040=) c.2098A= (p.Ser700=) c.2818A= (p.Ser940=) c.2968A= (p.Ser990=) c.2941A= (p.Ser981=) | |
7 | g.150947363C>A | CA369852588 | KCNH2 | n.3950G>T c.3117G>T (p.Glu1039Asp) c.2097G>T (p.Glu699Asp) c.2817G>T (p.Glu939Asp) c.2967G>T (p.Glu989Asp) c.2940G>T (p.Glu980Asp) | gnomAD v4 |
7 | g.150947363C>G | CA369852590 | KCNH2 | n.3950G>C c.3117G>C (p.Glu1039Asp) c.2097G>C (p.Glu699Asp) c.2817G>C (p.Glu939Asp) c.2967G>C (p.Glu989Asp) c.2940G>C (p.Glu980Asp) | |
7 | g.150947363C>T | CA458644819 | KCNH2 | n.3950G>A c.3117G>A (p.Glu1039=) c.2097G>A (p.Glu699=) c.2817G>A (p.Glu939=) c.2967G>A (p.Glu989=) c.2940G>A (p.Glu980=) | gnomAD v4 |
7 | g.150947364T>A | CA369852592 | KCNH2 | n.3949A>T c.3116A>T (p.Glu1039Val) c.2096A>T (p.Glu699Val) c.2816A>T (p.Glu939Val) c.2966A>T (p.Glu989Val) c.2939A>T (p.Glu980Val) | |
7 | g.150947364T>C | CA369852593 | KCNH2 | n.3949A>G c.3116A>G (p.Glu1039Gly) c.2096A>G (p.Glu699Gly) c.2816A>G (p.Glu939Gly) c.2966A>G (p.Glu989Gly) c.2939A>G (p.Glu980Gly) | gnomAD v4 |
7 | g.150947364T>G | CA369852594 | KCNH2 | n.3949A>C c.3116A>C (p.Glu1039Ala) c.2096A>C (p.Glu699Ala) c.2816A>C (p.Glu939Ala) c.2966A>C (p.Glu989Ala) c.2939A>C (p.Glu980Ala) | |
7 | g.150947365C>A | CA369852599 | KCNH2 | n.3948G>T c.3115G>T (p.Glu1039Ter) c.2095G>T (p.Glu699Ter) c.2815G>T (p.Glu939Ter) c.2965G>T (p.Glu989Ter) c.2938G>T (p.Glu980Ter) | gnomAD v4 |
7 | g.150947365C= | CA1752428497 | KCNH2 | n.3948G= c.3115G= (p.Glu1039=) c.2095G= (p.Glu699=) c.2815G= (p.Glu939=) c.2965G= (p.Glu989=) c.2938G= (p.Glu980=) | |
7 | g.150947365C>G | CA369852595 | KCNH2 | n.3948G>C c.3115G>C (p.Glu1039Gln) c.2095G>C (p.Glu699Gln) c.2815G>C (p.Glu939Gln) c.2965G>C (p.Glu989Gln) c.2938G>C (p.Glu980Gln) | gnomAD v4 |
7 | g.150947365C>T | CA369852597 | KCNH2 | n.3948G>A c.3115G>A (p.Glu1039Lys) c.2095G>A (p.Glu699Lys) c.2815G>A (p.Glu939Lys) c.2965G>A (p.Glu989Lys) c.2938G>A (p.Glu980Lys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947366C>A | CA458644820 | KCNH2 | n.3947G>T c.3114G>T (p.Val1038=) c.2094G>T (p.Val698=) c.2814G>T (p.Val938=) c.2964G>T (p.Val988=) c.2937G>T (p.Val979=) | gnomAD v4 |
7 | g.150947366C>G | CA458644821 | KCNH2 | n.3947G>C c.3114G>C (p.Val1038=) c.2094G>C (p.Val698=) c.2814G>C (p.Val938=) c.2964G>C (p.Val988=) c.2937G>C (p.Val979=) | |
7 | g.150947366C>T | CA458644822 | KCNH2 | n.3947G>A c.3114G>A (p.Val1038=) c.2094G>A (p.Val698=) c.2814G>A (p.Val938=) c.2964G>A (p.Val988=) c.2937G>A (p.Val979=) | ClinVar |
7 | g.150947367A= | CA1752428506 | KCNH2 | n.3946T= c.3113T= (p.Val1038=) c.2093T= (p.Val698=) c.2813T= (p.Val938=) c.2963T= (p.Val988=) c.2936T= (p.Val979=) | |
7 | g.150947367A>C | CA369852600 | KCNH2 | n.3946T>G c.3113T>G (p.Val1038Gly) c.2093T>G (p.Val698Gly) c.2813T>G (p.Val938Gly) c.2963T>G (p.Val988Gly) c.2936T>G (p.Val979Gly) | |
7 | g.150947367A>G | CA369852601 | KCNH2 | n.3946T>C c.3113T>C (p.Val1038Ala) c.2093T>C (p.Val698Ala) c.2813T>C (p.Val938Ala) c.2963T>C (p.Val988Ala) c.2936T>C (p.Val979Ala) | gnomAD v4 |
7 | g.150947367A>T | CA369852603 | KCNH2 | n.3946T>A c.3113T>A (p.Val1038Glu) c.2093T>A (p.Val698Glu) c.2813T>A (p.Val938Glu) c.2963T>A (p.Val988Glu) c.2936T>A (p.Val979Glu) | gnomAD v4 |
7 | g.150947367delinsCCGGGGCCGCCGACC | CA2695208781 | KCNH2 | n.3946delinsGGTCGGCGGCCCCGG c.3113delinsGGTCGGCGGCCCCGG (p.Val1038GlyfsTer24) c.2093delinsGGTCGGCGGCCCCGG (p.Val698GlyfsTer24) c.2813delinsGGTCGGCGGCCCCGG (p.Val938GlyfsTer24) c.2963delinsGGTCGGCGGCCCCGG (p.Val988GlyfsTer24) c.2936delinsGGTCGGCGGCCCCGG (p.Val979GlyfsTer24) | |
7 | g.150947367_150947381delinsACGTCGCCCCGGGGC | CA1752428508 | KCNH2 | n.3932_3946delinsGCCCCGGGGCGACGT c.3099_3113delinsGCCCCGGGGCGACGT (p.Arg1033=) c.2079_2093delinsGCCCCGGGGCGACGT (p.Arg693=) c.2799_2813delinsGCCCCGGGGCGACGT (p.Arg933=) c.2949_2963delinsGCCCCGGGGCGACGT (p.Arg983=) c.2922_2936delinsGCCCCGGGGCGACGT (p.Arg974=) | |
7 | g.150947369_150947388del | CA2695208780 | KCNH2 | n.3927_3946del c.3094_3113del (p.Arg1032GlyfsTer?) c.2074_2093del (p.Arg692GlyfsTer?) c.2794_2813del (p.Arg932GlyfsTer?) c.2944_2963del (p.Arg982GlyfsTer?) c.2917_2936del (p.Arg973GlyfsTer?) | |
7 | g.150947368C>A | CA037127 | KCNH2 | n.3945G>T c.3112G>T (p.Val1038Leu) c.2092G>T (p.Val698Leu) c.2812G>T (p.Val938Leu) c.2962G>T (p.Val988Leu) c.2935G>T (p.Val979Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947368C= | CA1752428537 | KCNH2 | n.3945G= c.3112G= (p.Val1038=) c.2092G= (p.Val698=) c.2812G= (p.Val938=) c.2962G= (p.Val988=) c.2935G= (p.Val979=) | |
7 | g.150947368C>G | CA369852608 | KCNH2 | n.3945G>C c.3112G>C (p.Val1038Leu) c.2092G>C (p.Val698Leu) c.2812G>C (p.Val938Leu) c.2962G>C (p.Val988Leu) c.2935G>C (p.Val979Leu) | |
7 | g.150947368C>T | CA007991 | KCNH2 | n.3945G>A c.3112G>A (p.Val1038Met) c.2092G>A (p.Val698Met) c.2812G>A (p.Val938Met) c.2962G>A (p.Val988Met) c.2935G>A (p.Val979Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947368_150947369insCGTCGCCCCGGGGC | CA918162868 | KCNH2 | n.3945_3946insCCCCGGGGCGACGG c.3112_3113insCCCCGGGGCGACGG (p.Val1038AlafsTer24) c.2092_2093insCCCCGGGGCGACGG (p.Val698AlafsTer24) c.2812_2813insCCCCGGGGCGACGG (p.Val938AlafsTer24) c.2962_2963insCCCCGGGGCGACGG (p.Val988AlafsTer24) c.2935_2936insCCCCGGGGCGACGG (p.Val979AlafsTer24) | dbSNP |
7 | g.150947370_150947372dup | CA2685601815 | KCNH2 | n.3943_3945dup c.3110_3112dup (p.Asp1037_Val1038insAsp) c.2090_2092dup (p.Asp697_Val698insAsp) c.2810_2812dup (p.Asp937_Val938insAsp) c.2960_2962dup (p.Asp987_Val988insAsp) c.2933_2935dup (p.Asp978_Val979insAsp) | gnomAD v4 |
7 | g.150947369_150947373dup | CA1139660329 | KCNH2 | n.3941_3945dup c.3108_3112dup (p.Val1038AlafsTer21) c.2088_2092dup (p.Val698AlafsTer21) c.2808_2812dup (p.Val938AlafsTer21) c.2958_2962dup (p.Val988AlafsTer21) c.2931_2935dup (p.Val979AlafsTer21) | ClinVar dbSNP |
7 | g.150947369_150947374dup | CA579075354 | KCNH2 | n.3940_3945dup c.3107_3112dup (p.Asp1037_Val1038insGlyAsp) c.2087_2092dup (p.Asp697_Val698insGlyAsp) c.2807_2812dup (p.Asp937_Val938insGlyAsp) c.2957_2962dup (p.Asp987_Val988insGlyAsp) c.2930_2935dup (p.Asp978_Val979insGlyAsp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947368_150947375delinsGT | CA2580077701 | KCNH2 | n.3938_3945delinsAC c.3105_3112delinsAC (p.Gly1036_Val1038delinsLeu) c.2085_2092delinsAC (p.Gly696_Val698delinsLeu) c.2805_2812delinsAC (p.Gly936_Val938delinsLeu) c.2955_2962delinsAC (p.Gly986_Val988delinsLeu) c.2928_2935delinsAC (p.Gly977_Val979delinsLeu) | ClinVar |
7 | g.150947369_150947375dup | CA658797027 | KCNH2 | n.3939_3945dup c.3106_3112dup (p.Val1038GlyfsTer?) c.2086_2092dup (p.Val698GlyfsTer?) c.2806_2812dup (p.Val938GlyfsTer?) c.2956_2962dup (p.Val988GlyfsTer?) c.2929_2935dup (p.Val979GlyfsTer?) | ClinVar dbSNP |
7 | g.150947370_150947377dup | CA305338 | KCNH2 | n.3938_3945dup c.3105_3112dup (p.Val1038GlyfsTer22) c.2085_2092dup (p.Val698GlyfsTer22) c.2805_2812dup (p.Val938GlyfsTer22) c.2955_2962dup (p.Val988GlyfsTer22) c.2928_2935dup (p.Val979GlyfsTer22) | ClinVar dbSNP |
7 | g.150947370_150947377del | CA2825001553 | KCNH2 | n.3938_3945del c.3105_3112del (p.Asp1037GlufsTer?) c.2085_2092del (p.Asp697GlufsTer?) c.2805_2812del (p.Asp937GlufsTer?) c.2955_2962del (p.Asp987GlufsTer?) c.2928_2935del (p.Asp978GlufsTer?) | ClinVar |
7 | g.150947370_150947383dup | CA2685601816 | KCNH2 | n.3932_3945dup c.3099_3112dup (p.Val1038GlyfsTer24) c.2079_2092dup (p.Val698GlyfsTer24) c.2799_2812dup (p.Val938GlyfsTer24) c.2949_2962dup (p.Val988GlyfsTer24) c.2922_2935dup (p.Val979GlyfsTer24) | gnomAD v4 |
7 | g.150947370_150947383del | CA16618397 | KCNH2 | n.3932_3945del c.3099_3112del (p.Pro1034GlyfsTer?) c.2079_2092del (p.Pro694GlyfsTer?) c.2799_2812del (p.Pro934GlyfsTer?) c.2949_2962del (p.Pro984GlyfsTer?) c.2922_2935del (p.Pro975GlyfsTer?) | ClinVar dbSNP |
7 | g.150947370_150947386del | CA658761307 | KCNH2 | n.3929_3945del c.3096_3112del (p.Arg1033GlyfsTer?) c.2076_2092del (p.Arg693GlyfsTer?) c.2796_2812del (p.Arg933GlyfsTer?) c.2946_2962del (p.Arg983GlyfsTer?) c.2919_2935del (p.Arg974GlyfsTer?) | |
7 | g.150947368_150947403del | CA2685601817 | KCNH2 | n.3910_3945del c.3077_3112del (p.Pro1026_Val1038delinsLeu) c.2057_2092del (p.Pro686_Val698delinsLeu) c.2777_2812del (p.Pro926_Val938delinsLeu) c.2927_2962del (p.Pro976_Val988delinsLeu) c.2900_2935del (p.Pro967_Val979delinsLeu) | dbSNP gnomAD v4 |
7 | g.150947369G>A | CA007976 | KCNH2 | n.3944C>T c.3111C>T (p.Asp1037=) c.2091C>T (p.Asp697=) c.2811C>T (p.Asp937=) c.2961C>T (p.Asp987=) c.2934C>T (p.Asp978=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947369G>C | CA369852611 | KCNH2 | n.3944C>G c.3111C>G (p.Asp1037Glu) c.2091C>G (p.Asp697Glu) c.2811C>G (p.Asp937Glu) c.2961C>G (p.Asp987Glu) c.2934C>G (p.Asp978Glu) | |
7 | g.150947369G= | CA1752428552 | KCNH2 | n.3944C= c.3111C= (p.Asp1037=) c.2091C= (p.Asp697=) c.2811C= (p.Asp937=) c.2961C= (p.Asp987=) c.2934C= (p.Asp978=) | |
7 | g.150947369G>T | CA369852613 | KCNH2 | n.3944C>A c.3111C>A (p.Asp1037Glu) c.2091C>A (p.Asp697Glu) c.2811C>A (p.Asp937Glu) c.2961C>A (p.Asp987Glu) c.2934C>A (p.Asp978Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947370_150947379del | CA2695208782 | KCNH2 | n.3935_3944del c.3102_3111del (p.Arg1035TrpfsTer19) c.2082_2091del (p.Arg695TrpfsTer19) c.2802_2811del (p.Arg935TrpfsTer19) c.2952_2961del (p.Arg985TrpfsTer19) c.2925_2934del (p.Arg976TrpfsTer19) | |
7 | g.150947370T>A | CA369852616 | KCNH2 | n.3943A>T c.3110A>T (p.Asp1037Val) c.2090A>T (p.Asp697Val) c.2810A>T (p.Asp937Val) c.2960A>T (p.Asp987Val) c.2933A>T (p.Asp978Val) | |
7 | g.150947370T>C | CA369852618 | KCNH2 | n.3943A>G c.3110A>G (p.Asp1037Gly) c.2090A>G (p.Asp697Gly) c.2810A>G (p.Asp937Gly) c.2960A>G (p.Asp987Gly) c.2933A>G (p.Asp978Gly) | |
7 | g.150947370T>G | CA369852615 | KCNH2 | n.3943A>C c.3110A>C (p.Asp1037Ala) c.2090A>C (p.Asp697Ala) c.2810A>C (p.Asp937Ala) c.2960A>C (p.Asp987Ala) c.2933A>C (p.Asp978Ala) | |
7 | g.150947370_150947381delinsTCGCCCCGGGGC | CA1752428556 | KCNH2 | n.3932_3943delinsGCCCCGGGGCGA c.3099_3110delinsGCCCCGGGGCGA (p.Arg1033=) c.2079_2090delinsGCCCCGGGGCGA (p.Arg693=) c.2799_2810delinsGCCCCGGGGCGA (p.Arg933=) c.2949_2960delinsGCCCCGGGGCGA (p.Arg983=) c.2922_2933delinsGCCCCGGGGCGA (p.Arg974=) | |
7 | g.150947371C>A | CA369852620 | KCNH2 | n.3942G>T c.3109G>T (p.Asp1037Tyr) c.2089G>T (p.Asp697Tyr) c.2809G>T (p.Asp937Tyr) c.2959G>T (p.Asp987Tyr) c.2932G>T (p.Asp978Tyr) | dbSNP gnomAD v4 |
7 | g.150947371C= | CA1752428565 | KCNH2 | n.3942G= c.3109G= (p.Asp1037=) c.2089G= (p.Asp697=) c.2809G= (p.Asp937=) c.2959G= (p.Asp987=) c.2932G= (p.Asp978=) | |
7 | g.150947371C>G | CA369852621 | KCNH2 | n.3942G>C c.3109G>C (p.Asp1037His) c.2089G>C (p.Asp697His) c.2809G>C (p.Asp937His) c.2959G>C (p.Asp987His) c.2932G>C (p.Asp978His) | |
7 | g.150947371C>T | CA007968 | KCNH2 | n.3942G>A c.3109G>A (p.Asp1037Asn) c.2089G>A (p.Asp697Asn) c.2809G>A (p.Asp937Asn) c.2959G>A (p.Asp987Asn) c.2932G>A (p.Asp978Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947372_150947375dup | CA658761308 | KCNH2 | n.3939_3942dup c.3106_3109dup (p.Asp1037GlyfsTer?) c.2086_2089dup (p.Asp697GlyfsTer?) c.2806_2809dup (p.Asp937GlyfsTer?) c.2956_2959dup (p.Asp987GlyfsTer?) c.2929_2932dup (p.Asp978GlyfsTer?) | |
7 | g.150947373_150947377dup | CA2573141844 | KCNH2 | n.3938_3942dup c.3105_3109dup (p.Asp1037GlyfsTer22) c.2085_2089dup (p.Asp697GlyfsTer22) c.2805_2809dup (p.Asp937GlyfsTer22) c.2955_2959dup (p.Asp987GlyfsTer22) c.2928_2932dup (p.Asp978GlyfsTer22) | ClinVar dbSNP |
7 | g.150947375_150947385dup | CA16612298 | KCNH2 | n.3932_3942dup c.3099_3109dup (p.Asp1037GlyfsTer24) c.2079_2089dup (p.Asp697GlyfsTer24) c.2799_2809dup (p.Asp937GlyfsTer24) c.2949_2959dup (p.Asp987GlyfsTer24) c.2922_2932dup (p.Asp978GlyfsTer24) | ClinVar dbSNP |
7 | g.150947375_150947385del | CA007922 | KCNH2 | n.3932_3942del c.3099_3109del (p.Pro1034ArgfsTer?) c.2079_2089del (p.Pro694ArgfsTer?) c.2799_2809del (p.Pro934ArgfsTer?) c.2949_2959del (p.Pro984ArgfsTer?) c.2922_2932del (p.Pro975ArgfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150947373_150947386del | CA2579062673 | KCNH2 | n.3929_3942del c.3096_3109del (p.Pro1034GlyfsTer?) c.2076_2089del (p.Pro694GlyfsTer?) c.2796_2809del (p.Pro934GlyfsTer?) c.2946_2959del (p.Pro984GlyfsTer?) c.2919_2932del (p.Pro975GlyfsTer?) | |
7 | g.150947372_150953685dup | CA2580614280 | KCNH2 | n.1962-831_3942dup c.1129-831_3109dup c.109-831_2089dup c.829-831_2809dup c.979-831_2959dup c.952-831_2932dup | |
7 | g.150947372G>A | CA037083 | KCNH2 | n.3941C>T c.3108C>T (p.Gly1036=) c.2088C>T (p.Gly696=) c.2808C>T (p.Gly936=) c.2958C>T (p.Gly986=) c.2931C>T (p.Gly977=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947372G>C | CA458644829 | KCNH2 | n.3941C>G c.3108C>G (p.Gly1036=) c.2088C>G (p.Gly696=) c.2808C>G (p.Gly936=) c.2958C>G (p.Gly986=) c.2931C>G (p.Gly977=) | |
7 | g.150947372G= | CA1752428580 | KCNH2 | n.3941C= c.3108C= (p.Gly1036=) c.2088C= (p.Gly696=) c.2808C= (p.Gly936=) c.2958C= (p.Gly986=) c.2931C= (p.Gly977=) | |
7 | g.150947372G>T | CA458644830 | KCNH2 | n.3941C>A c.3108C>A (p.Gly1036=) c.2088C>A (p.Gly696=) c.2808C>A (p.Gly936=) c.2958C>A (p.Gly986=) c.2931C>A (p.Gly977=) | gnomAD v4 |
7 | g.150947372dup | CA915945567 | KCNH2 | n.3941dup c.3108dup (p.Asp1037ArgfsTer?) c.2088dup (p.Asp697ArgfsTer?) c.2808dup (p.Asp937ArgfsTer?) c.2958dup (p.Asp987ArgfsTer?) c.2931dup (p.Asp978ArgfsTer?) | ClinVar dbSNP |
7 | g.150947372_150947373delinsGC | CA1752428582 | KCNH2 | n.3940_3941delinsGC c.3107_3108delinsGC (p.Gly1036=) c.2087_2088delinsGC (p.Gly696=) c.2807_2808delinsGC (p.Gly936=) c.2957_2958delinsGC (p.Gly986=) c.2930_2931delinsGC (p.Gly977=) | |
7 | g.150947372_150947380delinsGCCCCGGGG | CA1752428579 | KCNH2 | n.3933_3941delinsCCCCGGGGC c.3100_3108delinsCCCCGGGGC (p.Pro1034=) c.2080_2088delinsCCCCGGGGC (p.Pro694=) c.2800_2808delinsCCCCGGGGC (p.Pro934=) c.2950_2958delinsCCCCGGGGC (p.Pro984=) c.2923_2931delinsCCCCGGGGC (p.Pro975=) | |
7 | g.150947375_150947382del | CA2499218782 | KCNH2 | n.3934_3941del c.3101_3108del (p.Pro1034ArgfsTer?) c.2081_2088del (p.Pro694ArgfsTer?) c.2801_2808del (p.Pro934ArgfsTer?) c.2951_2958del (p.Pro984ArgfsTer?) c.2924_2931del (p.Pro975ArgfsTer?) | ClinVar dbSNP |
7 | g.150947373C>A | CA369852628 | KCNH2 | n.3940G>T c.3107G>T (p.Gly1036Val) c.2087G>T (p.Gly696Val) c.2807G>T (p.Gly936Val) c.2957G>T (p.Gly986Val) c.2930G>T (p.Gly977Val) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150947373C= | CA1752428604 | KCNH2 | n.3940G= c.3107G= (p.Gly1036=) c.2087G= (p.Gly696=) c.2807G= (p.Gly936=) c.2957G= (p.Gly986=) c.2930G= (p.Gly977=) | |
7 | g.150947373C>G | CA369852630 | KCNH2 | n.3940G>C c.3107G>C (p.Gly1036Ala) c.2087G>C (p.Gly696Ala) c.2807G>C (p.Gly936Ala) c.2957G>C (p.Gly986Ala) c.2930G>C (p.Gly977Ala) | |
7 | g.150947373C>T | CA007960 | KCNH2 | n.3940G>A c.3107G>A (p.Gly1036Asp) c.2087G>A (p.Gly696Asp) c.2807G>A (p.Gly936Asp) c.2957G>A (p.Gly986Asp) c.2930G>A (p.Gly977Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947373_150947376del | CA2695208783 | KCNH2 | n.3937_3940del c.3104_3107del (p.Arg1035ProfsTer21) c.2084_2087del (p.Arg695ProfsTer21) c.2804_2807del (p.Arg935ProfsTer21) c.2954_2957del (p.Arg985ProfsTer21) c.2927_2930del (p.Arg976ProfsTer21) | |
7 | g.150947376dup | CA305506 | KCNH2 | n.3940dup c.3107dup (p.Asp1037ArgfsTer?) c.2087dup (p.Asp697ArgfsTer?) c.2807dup (p.Asp937ArgfsTer?) c.2957dup (p.Asp987ArgfsTer?) c.2930dup (p.Asp978ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
7 | g.150947375_150947376dup | CA16042570 | KCNH2 | n.3939_3940dup c.3106_3107dup (p.Asp1037AlafsTer21) c.2086_2087dup (p.Asp697AlafsTer21) c.2806_2807dup (p.Asp937AlafsTer21) c.2956_2957dup (p.Asp987AlafsTer21) c.2929_2930dup (p.Asp978AlafsTer21) | ClinVar dbSNP |
7 | g.150947374_150947376dup | CA579075355 | KCNH2 | n.3938_3940dup c.3105_3107dup (p.Gly1036_Asp1037insGly) c.2085_2087dup (p.Gly696_Asp697insGly) c.2805_2807dup (p.Gly936_Asp937insGly) c.2955_2957dup (p.Gly986_Asp987insGly) c.2928_2930dup (p.Gly977_Asp978insGly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947373_150947376dup | CA305337 | KCNH2 | n.3937_3940dup c.3104_3107dup (p.Asp1037GlyfsTer?) c.2084_2087dup (p.Asp697GlyfsTer?) c.2804_2807dup (p.Asp937GlyfsTer?) c.2954_2957dup (p.Asp987GlyfsTer?) c.2927_2930dup (p.Asp978GlyfsTer?) | ClinVar dbSNP |
7 | g.150947376del | CA007951 | KCNH2 | n.3940del c.3107del (p.Gly1036AlafsTer21) c.2087del (p.Gly696AlafsTer21) c.2807del (p.Gly936AlafsTer21) c.2957del (p.Gly986AlafsTer21) c.2930del (p.Gly977AlafsTer21) | ClinVar dbSNP gnomAD v4 |
7 | g.150947373_150947380delinsGCC | CA1139660330 | KCNH2 | n.3933_3940delinsGGC c.3100_3107delinsGGC (p.Pro1034GlyfsTer?) c.2080_2087delinsGGC (p.Pro694GlyfsTer?) c.2800_2807delinsGGC (p.Pro934GlyfsTer?) c.2950_2957delinsGGC (p.Pro984GlyfsTer?) c.2923_2930delinsGGC (p.Pro975GlyfsTer?) | ClinVar dbSNP |
7 | g.150947373_150947385dup | CA658797028 | KCNH2 | n.3928_3940dup c.3095_3107dup (p.Asp1037AlafsTer?) c.2075_2087dup (p.Asp697AlafsTer?) c.2795_2807dup (p.Asp937AlafsTer?) c.2945_2957dup (p.Asp987AlafsTer?) c.2918_2930dup (p.Asp978AlafsTer?) | ClinVar dbSNP |
7 | g.150947373_150947387delinsCCCCGGGGCCGCCGA | CA1752428603 | KCNH2 | n.3926_3940delinsTCGGCGGCCCCGGGG c.3093_3107delinsTCGGCGGCCCCGGGG (p.Gly1031=) c.2073_2087delinsTCGGCGGCCCCGGGG (p.Gly691=) c.2793_2807delinsTCGGCGGCCCCGGGG (p.Gly931=) c.2943_2957delinsTCGGCGGCCCCGGGG (p.Gly981=) c.2916_2930delinsTCGGCGGCCCCGGGG (p.Gly972=) | |
7 | g.150947374C>A | CA369852638 | KCNH2 | n.3939G>T c.3106G>T (p.Gly1036Cys) c.2086G>T (p.Gly696Cys) c.2806G>T (p.Gly936Cys) c.2956G>T (p.Gly986Cys) c.2929G>T (p.Gly977Cys) | gnomAD v4 |
7 | g.150947374C= | CA1752428638 | KCNH2 | n.3939G= c.3106G= (p.Gly1036=) c.2086G= (p.Gly696=) c.2806G= (p.Gly936=) c.2956G= (p.Gly986=) c.2929G= (p.Gly977=) | |
7 | g.150947374C>G | CA369852636 | KCNH2 | n.3939G>C c.3106G>C (p.Gly1036Arg) c.2086G>C (p.Gly696Arg) c.2806G>C (p.Gly936Arg) c.2956G>C (p.Gly986Arg) c.2929G>C (p.Gly977Arg) | |
7 | g.150947374C>T | CA369852634 | KCNH2 | n.3939G>A c.3106G>A (p.Gly1036Ser) c.2086G>A (p.Gly696Ser) c.2806G>A (p.Gly936Ser) c.2956G>A (p.Gly986Ser) c.2929G>A (p.Gly977Ser) | ClinVar dbSNP gnomAD v4 |
7 | g.150947376_150947382dup | CA658656011 | KCNH2 | n.3933_3939dup c.3100_3106dup (p.Gly1036AlafsTer?) c.2080_2086dup (p.Gly696AlafsTer?) c.2800_2806dup (p.Gly936AlafsTer?) c.2950_2956dup (p.Gly986AlafsTer?) c.2923_2929dup (p.Gly977AlafsTer?) | ClinVar dbSNP |
7 | g.150947376_150947385dup | CA2499218783 | KCNH2 | n.3930_3939dup c.3097_3106dup (p.Gly1036AlafsTer?) c.2077_2086dup (p.Gly696AlafsTer?) c.2797_2806dup (p.Gly936AlafsTer?) c.2947_2956dup (p.Gly986AlafsTer?) c.2920_2929dup (p.Gly977AlafsTer?) | ClinVar dbSNP |
7 | g.150947380_150947393del | CA658761310 | KCNH2 | n.3926_3939del c.3093_3106del (p.Pro1034GlyfsTer?) c.2073_2086del (p.Pro694GlyfsTer?) c.2793_2806del (p.Pro934GlyfsTer?) c.2943_2956del (p.Pro984GlyfsTer?) c.2916_2929del (p.Pro975GlyfsTer?) | ClinVar dbSNP |
7 | g.150947375C>A | CA458644834 | KCNH2 | n.3938G>T c.3105G>T (p.Arg1035=) c.2085G>T (p.Arg695=) c.2805G>T (p.Arg935=) c.2955G>T (p.Arg985=) c.2928G>T (p.Arg976=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947375C= | CA1752428641 | KCNH2 | n.3938G= c.3105G= (p.Arg1035=) c.2085G= (p.Arg695=) c.2805G= (p.Arg935=) c.2955G= (p.Arg985=) c.2928G= (p.Arg976=) | |
7 | g.150947375C>G | CA458644833 | KCNH2 | n.3938G>C c.3105G>C (p.Arg1035=) c.2085G>C (p.Arg695=) c.2805G>C (p.Arg935=) c.2955G>C (p.Arg985=) c.2928G>C (p.Arg976=) | |
7 | g.150947375C>T | CA458644832 | KCNH2 | n.3938G>A c.3105G>A (p.Arg1035=) c.2085G>A (p.Arg695=) c.2805G>A (p.Arg935=) c.2955G>A (p.Arg985=) c.2928G>A (p.Arg976=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947378_150947386dup | CA2685601852 | KCNH2 | n.3930_3938dup c.3097_3105dup (p.Arg1035_Gly1036insArgProArg) c.2077_2085dup (p.Arg695_Gly696insArgProArg) c.2797_2805dup (p.Arg935_Gly936insArgProArg) c.2947_2955dup (p.Arg985_Gly986insArgProArg) c.2920_2928dup (p.Arg976_Gly977insArgProArg) | gnomAD v4 |
7 | g.150947375_150947388delinsGA | CA2580077706 | KCNH2 | n.3925_3938delinsTC c.3092_3105delinsTC (p.Gly1031_Arg1035delinsVal) c.2072_2085delinsTC (p.Gly691_Arg695delinsVal) c.2792_2805delinsTC (p.Gly931_Arg935delinsVal) c.2942_2955delinsTC (p.Gly981_Arg985delinsVal) c.2915_2928delinsTC (p.Gly972_Arg976delinsVal) | ClinVar |
7 | g.150947375_150947376insGG | CA2695208784 | KCNH2 | n.3937_3938insCC c.3104_3105insCC (p.Gly1036ArgfsTer22) c.2084_2085insCC (p.Gly696ArgfsTer22) c.2804_2805insCC (p.Gly936ArgfsTer22) c.2954_2955insCC (p.Gly986ArgfsTer22) c.2927_2928insCC (p.Gly977ArgfsTer22) | |
7 | g.150947376C>A | CA369852640 | KCNH2 | n.3937G>T c.3104G>T (p.Arg1035Leu) c.2084G>T (p.Arg695Leu) c.2804G>T (p.Arg935Leu) c.2954G>T (p.Arg985Leu) c.2927G>T (p.Arg976Leu) | dbSNP gnomAD v4 |
7 | g.150947376C= | CA1752428646 | KCNH2 | n.3937G= c.3104G= (p.Arg1035=) c.2084G= (p.Arg695=) c.2804G= (p.Arg935=) c.2954G= (p.Arg985=) c.2927G= (p.Arg976=) | |
7 | g.150947376C>G | CA369852641 | KCNH2 | n.3937G>C c.3104G>C (p.Arg1035Pro) c.2084G>C (p.Arg695Pro) c.2804G>C (p.Arg935Pro) c.2954G>C (p.Arg985Pro) c.2927G>C (p.Arg976Pro) | gnomAD v4 |
7 | g.150947376C>T | CA037044 | KCNH2 | n.3937G>A c.3104G>A (p.Arg1035Gln) c.2084G>A (p.Arg695Gln) c.2804G>A (p.Arg935Gln) c.2954G>A (p.Arg985Gln) c.2927G>A (p.Arg976Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947376_150947377delinsCG | CA1752428649 | KCNH2 | n.3936_3937delinsCG c.3103_3104delinsCG (p.Arg1035=) c.2083_2084delinsCG (p.Arg695=) c.2803_2804delinsCG (p.Arg935=) c.2953_2954delinsCG (p.Arg985=) c.2926_2927delinsCG (p.Arg976=) | |
7 | g.150947377G>A | CA007929 | KCNH2 | n.3936C>T c.3103C>T (p.Arg1035Trp) c.2083C>T (p.Arg695Trp) c.2803C>T (p.Arg935Trp) c.2953C>T (p.Arg985Trp) c.2926C>T (p.Arg976Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.150947377G>C | CA369852644 | KCNH2 | n.3936C>G c.3103C>G (p.Arg1035Gly) c.2083C>G (p.Arg695Gly) c.2803C>G (p.Arg935Gly) c.2953C>G (p.Arg985Gly) c.2926C>G (p.Arg976Gly) | gnomAD v4 |
7 | g.150947377G= | CA1752428660 | KCNH2 | n.3936C= c.3103C= (p.Arg1035=) c.2083C= (p.Arg695=) c.2803C= (p.Arg935=) c.2953C= (p.Arg985=) c.2926C= (p.Arg976=) | |
7 | g.150947377G>T | CA037022 | KCNH2 | n.3936C>A c.3103C>A (p.Arg1035=) c.2083C>A (p.Arg695=) c.2803C>A (p.Arg935=) c.2953C>A (p.Arg985=) c.2926C>A (p.Arg976=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150947380dup | CA916080374 | KCNH2 | n.3936dup c.3103dup (p.Arg1035ProfsTer?) c.2083dup (p.Arg695ProfsTer?) c.2803dup (p.Arg935ProfsTer?) c.2953dup (p.Arg985ProfsTer?) c.2926dup (p.Arg976ProfsTer?) | ClinVar dbSNP gnomAD v4 |
7 | g.150947379_150947380dup | CA2573332602 | KCNH2 | n.3935_3936dup c.3102_3103dup (p.Arg1035ProfsTer23) c.2082_2083dup (p.Arg695ProfsTer23) c.2802_2803dup (p.Arg935ProfsTer23) c.2952_2953dup (p.Arg985ProfsTer23) c.2925_2926dup (p.Arg976ProfsTer23) | |
7 | g.150947377_150947380dup | CA2580077707 | KCNH2 | n.3933_3936dup c.3100_3103dup (p.Arg1035ProfsTer?) c.2080_2083dup (p.Arg695ProfsTer?) c.2800_2803dup (p.Arg935ProfsTer?) c.2950_2953dup (p.Arg985ProfsTer?) c.2923_2926dup (p.Arg976ProfsTer?) | ClinVar |
7 | g.150947380del | CA007936 | KCNH2 | n.3936del c.3103del (p.Arg1035GlyfsTer22) c.2083del (p.Arg695GlyfsTer22) c.2803del (p.Arg935GlyfsTer22) c.2953del (p.Arg985GlyfsTer22) c.2926del (p.Arg976GlyfsTer22) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947379_150947380del | CA2695208785 | KCNH2 | n.3935_3936del c.3102_3103del (p.Arg1035GlyfsTer?) c.2082_2083del (p.Arg695GlyfsTer?) c.2802_2803del (p.Arg935GlyfsTer?) c.2952_2953del (p.Arg985GlyfsTer?) c.2925_2926del (p.Arg976GlyfsTer?) | |
7 | g.150947377_150947382delinsGGGGCC | CA1752428662 | KCNH2 | n.3931_3936delinsGGCCCC c.3098_3103delinsGGCCCC (p.Arg1033=) c.2078_2083delinsGGCCCC (p.Arg693=) c.2798_2803delinsGGCCCC (p.Arg933=) c.2948_2953delinsGGCCCC (p.Arg983=) c.2921_2926delinsGGCCCC (p.Arg974=) | |
7 | g.150947377_150947390delinsGGGGCCGCCGACCC | CA1752428663 | KCNH2 | n.3923_3936delinsGGGTCGGCGGCCCC c.3090_3103delinsGGGTCGGCGGCCCC (p.Pro1030=) c.2070_2083delinsGGGTCGGCGGCCCC (p.Pro690=) c.2790_2803delinsGGGTCGGCGGCCCC (p.Pro930=) c.2940_2953delinsGGGTCGGCGGCCCC (p.Pro980=) c.2913_2926delinsGGGTCGGCGGCCCC (p.Pro971=) | |
7 | g.150947377_150947378insC | CA2695208786 | KCNH2 | n.3935_3936insG c.3102_3103insG (p.Arg1035AlafsTer?) c.2082_2083insG (p.Arg695AlafsTer?) c.2802_2803insG (p.Arg935AlafsTer?) c.2952_2953insG (p.Arg985AlafsTer?) c.2925_2926insG (p.Arg976AlafsTer?) | |
7 | g.150947378G>A | CA458644838 | KCNH2 | n.3935C>T c.3102C>T (p.Pro1034=) c.2082C>T (p.Pro694=) c.2802C>T (p.Pro934=) c.2952C>T (p.Pro984=) c.2925C>T (p.Pro975=) | gnomAD v4 |
7 | g.150947378G>C | CA458644839 | KCNH2 | n.3935C>G c.3102C>G (p.Pro1034=) c.2082C>G (p.Pro694=) c.2802C>G (p.Pro934=) c.2952C>G (p.Pro984=) c.2925C>G (p.Pro975=) | |
7 | g.150947378G>T | CA458644840 | KCNH2 | n.3935C>A c.3102C>A (p.Pro1034=) c.2082C>A (p.Pro694=) c.2802C>A (p.Pro934=) c.2952C>A (p.Pro984=) c.2925C>A (p.Pro975=) | gnomAD v4 |
7 | g.150947378_150947381dup | CA915945568 | KCNH2 | n.3932_3935dup c.3099_3102dup (p.Arg1035AlafsTer?) c.2079_2082dup (p.Arg695AlafsTer?) c.2799_2802dup (p.Arg935AlafsTer?) c.2949_2952dup (p.Arg985AlafsTer?) c.2922_2925dup (p.Arg976AlafsTer?) | ClinVar dbSNP |
7 | g.150947379_150947383del | CA579075356 | KCNH2 | n.3931_3935del c.3098_3102del (p.Arg1033ProfsTer?) c.2078_2082del (p.Arg693ProfsTer?) c.2798_2802del (p.Arg933ProfsTer?) c.2948_2952del (p.Arg983ProfsTer?) c.2921_2925del (p.Arg974ProfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947382_150947394del | CA658760375 | KCNH2 | n.3923_3935del c.3090_3102del (p.Arg1032AlafsTer21) c.2070_2082del (p.Arg692AlafsTer21) c.2790_2802del (p.Arg932AlafsTer21) c.2940_2952del (p.Arg982AlafsTer21) c.2913_2925del (p.Arg973AlafsTer21) | ClinVar dbSNP |
7 | g.150947379G>A | CA369852647 | KCNH2 | n.3934C>T c.3101C>T (p.Pro1034Leu) c.2081C>T (p.Pro694Leu) c.2801C>T (p.Pro934Leu) c.2951C>T (p.Pro984Leu) c.2924C>T (p.Pro975Leu) | gnomAD v4 |
7 | g.150947379G>C | CA369852649 | KCNH2 | n.3934C>G c.3101C>G (p.Pro1034Arg) c.2081C>G (p.Pro694Arg) c.2801C>G (p.Pro934Arg) c.2951C>G (p.Pro984Arg) c.2924C>G (p.Pro975Arg) | gnomAD v4 |
7 | g.150947379G= | CA1752428683 | KCNH2 | n.3934C= c.3101C= (p.Pro1034=) c.2081C= (p.Pro694=) c.2801C= (p.Pro934=) c.2951C= (p.Pro984=) c.2924C= (p.Pro975=) | |
7 | g.150947379G>T | CA369852650 | KCNH2 | n.3934C>A c.3101C>A (p.Pro1034His) c.2081C>A (p.Pro694His) c.2801C>A (p.Pro934His) c.2951C>A (p.Pro984His) c.2924C>A (p.Pro975His) | |
7 | g.150947380_150947383dup | CA2697557663 | KCNH2 | n.3931_3934dup c.3098_3101dup (p.Arg1035AlafsTer?) c.2078_2081dup (p.Arg695AlafsTer?) c.2798_2801dup (p.Arg935AlafsTer?) c.2948_2951dup (p.Arg985AlafsTer?) c.2921_2924dup (p.Arg976AlafsTer?) | ClinVar |
7 | g.150947384_150947385insGACGGCCGC | CA2573052837 | KCNH2 | n.3934_3935insGTCGCGGCC c.3101_3102insGTCGCGGCC (p.Pro1034_Arg1035insSerArgPro) c.2081_2082insGTCGCGGCC (p.Pro694_Arg695insSerArgPro) c.2801_2802insGTCGCGGCC (p.Pro934_Arg935insSerArgPro) c.2951_2952insGTCGCGGCC (p.Pro984_Arg985insSerArgPro) c.2924_2925insGTCGCGGCC (p.Pro975_Arg976insSerArgPro) | ClinVar dbSNP gnomAD v4 |
7 | g.150947379_150947389del | CA2695208787 | KCNH2 | n.3924_3934del c.3091_3101del (p.Gly1031ProfsTer?) c.2071_2081del (p.Gly691ProfsTer?) c.2791_2801del (p.Gly931ProfsTer?) c.2941_2951del (p.Gly981ProfsTer?) c.2914_2924del (p.Gly972ProfsTer?) | |
7 | g.150947380G>A | CA369852652 | KCNH2 | n.3933C>T c.3100C>T (p.Pro1034Ser) c.2080C>T (p.Pro694Ser) c.2800C>T (p.Pro934Ser) c.2950C>T (p.Pro984Ser) c.2923C>T (p.Pro975Ser) | gnomAD v4 |
7 | g.150947380G>C | CA369852653 | KCNH2 | n.3933C>G c.3100C>G (p.Pro1034Ala) c.2080C>G (p.Pro694Ala) c.2800C>G (p.Pro934Ala) c.2950C>G (p.Pro984Ala) c.2923C>G (p.Pro975Ala) | |
7 | g.150947380G= | CA1752428691 | KCNH2 | n.3933C= c.3100C= (p.Pro1034=) c.2080C= (p.Pro694=) c.2800C= (p.Pro934=) c.2950C= (p.Pro984=) c.2923C= (p.Pro975=) | |
7 | g.150947380G>T | CA369852655 | KCNH2 | n.3933C>A c.3100C>A (p.Pro1034Thr) c.2080C>A (p.Pro694Thr) c.2800C>A (p.Pro934Thr) c.2950C>A (p.Pro984Thr) c.2923C>A (p.Pro975Thr) | gnomAD v4 |
7 | g.150947380_150947381delinsGC | CA1752428689 | KCNH2 | n.3932_3933delinsGC c.3099_3100delinsGC (p.Arg1033=) c.2079_2080delinsGC (p.Arg693=) c.2799_2800delinsGC (p.Arg933=) c.2949_2950delinsGC (p.Arg983=) c.2922_2923delinsGC (p.Arg974=) | |
7 | g.150947384_150947386dup | CA16609793 | KCNH2 | n.3931_3933dup c.3098_3100dup (p.Arg1033_Pro1034insArg) c.2078_2080dup (p.Arg693_Pro694insArg) c.2798_2800dup (p.Arg933_Pro934insArg) c.2948_2950dup (p.Arg983_Pro984insArg) c.2921_2923dup (p.Arg974_Pro975insArg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947381C>A | CA169071881 | KCNH2 | n.3932G>T c.3099G>T (p.Arg1033=) c.2079G>T (p.Arg693=) c.2799G>T (p.Arg933=) c.2949G>T (p.Arg983=) c.2922G>T (p.Arg974=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947381C= | CA1752428710 | KCNH2 | n.3932G= c.3099G= (p.Arg1033=) c.2079G= (p.Arg693=) c.2799G= (p.Arg933=) c.2949G= (p.Arg983=) c.2922G= (p.Arg974=) | |
7 | g.150947381C>G | CA458644844 | KCNH2 | n.3932G>C c.3099G>C (p.Arg1033=) c.2079G>C (p.Arg693=) c.2799G>C (p.Arg933=) c.2949G>C (p.Arg983=) c.2922G>C (p.Arg974=) | ClinVar dbSNP |
7 | g.150947381C>T | CA458644845 | KCNH2 | n.3932G>A c.3099G>A (p.Arg1033=) c.2079G>A (p.Arg693=) c.2799G>A (p.Arg933=) c.2949G>A (p.Arg983=) c.2922G>A (p.Arg974=) | gnomAD v4 |
7 | g.150947382dup | CA1139771242 | KCNH2 | n.3932dup c.3099dup (p.Pro1034AlafsTer?) c.2079dup (p.Pro694AlafsTer?) c.2799dup (p.Pro934AlafsTer?) c.2949dup (p.Pro984AlafsTer?) c.2922dup (p.Pro975AlafsTer?) | ClinVar |
7 | g.150947382del | CA16042677 | KCNH2 | n.3932del c.3099del (p.Arg1035GlyfsTer22) c.2079del (p.Arg695GlyfsTer22) c.2799del (p.Arg935GlyfsTer22) c.2949del (p.Arg985GlyfsTer22) c.2922del (p.Arg976GlyfsTer22) | ClinVar dbSNP |
7 | g.150947382_150947385dup | CA305336 | KCNH2 | n.3929_3932dup c.3096_3099dup (p.Pro1034AlafsTer?) c.2076_2079dup (p.Pro694AlafsTer?) c.2796_2799dup (p.Pro934AlafsTer?) c.2946_2949dup (p.Pro984AlafsTer?) c.2919_2922dup (p.Pro975AlafsTer?) | ClinVar dbSNP gnomAD v4 |
7 | g.150947381_150947385dup | CA10581150 | KCNH2 | n.3928_3932dup c.3095_3099dup (p.Pro1034GlyfsTer25) c.2075_2079dup (p.Pro694GlyfsTer25) c.2795_2799dup (p.Pro934GlyfsTer25) c.2945_2949dup (p.Pro984GlyfsTer25) c.2918_2922dup (p.Pro975GlyfsTer25) | ClinVar dbSNP |
7 | g.150947382_150947385del | CA2573141845 | KCNH2 | n.3929_3932del c.3096_3099del (p.Arg1033ProfsTer23) c.2076_2079del (p.Arg693ProfsTer23) c.2796_2799del (p.Arg933ProfsTer23) c.2946_2949del (p.Arg983ProfsTer23) c.2919_2922del (p.Arg974ProfsTer23) | ClinVar dbSNP gnomAD v4 |
7 | g.150947381_150947386delinsGCGA | CA2695208788 | KCNH2 | n.3927_3932delinsTCGC c.3094_3099delinsTCGC (p.Arg1032SerfsTer?) c.2074_2079delinsTCGC (p.Arg692SerfsTer?) c.2794_2799delinsTCGC (p.Arg932SerfsTer?) c.2944_2949delinsTCGC (p.Arg982SerfsTer?) c.2917_2922delinsTCGC (p.Arg973SerfsTer?) | |
7 | g.150947381_150947394del | CA2499218784 | KCNH2 | n.3919_3932del c.3086_3099del (p.Ser1029ThrfsTer?) c.2066_2079del (p.Ser689ThrfsTer?) c.2786_2799del (p.Ser929ThrfsTer?) c.2936_2949del (p.Ser979ThrfsTer?) c.2909_2922del (p.Ser970ThrfsTer?) | ClinVar dbSNP |
7 | g.150947382C>A | CA369852660 | KCNH2 | n.3931G>T c.3098G>T (p.Arg1033Leu) c.2078G>T (p.Arg693Leu) c.2798G>T (p.Arg933Leu) c.2948G>T (p.Arg983Leu) c.2921G>T (p.Arg974Leu) | ClinVar dbSNP gnomAD v4 |
7 | g.150947382C= | CA1752428724 | KCNH2 | n.3931G= c.3098G= (p.Arg1033=) c.2078G= (p.Arg693=) c.2798G= (p.Arg933=) c.2948G= (p.Arg983=) c.2921G= (p.Arg974=) | |
7 | g.150947382C>G | CA369852662 | KCNH2 | n.3931G>C c.3098G>C (p.Arg1033Pro) c.2078G>C (p.Arg693Pro) c.2798G>C (p.Arg933Pro) c.2948G>C (p.Arg983Pro) c.2921G>C (p.Arg974Pro) | |
7 | g.150947382C>T | CA037004 | KCNH2 | n.3931G>A c.3098G>A (p.Arg1033Gln) c.2078G>A (p.Arg693Gln) c.2798G>A (p.Arg933Gln) c.2948G>A (p.Arg983Gln) c.2921G>A (p.Arg974Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947383_150947384dup | CA658656012 | KCNH2 | n.3930_3931dup c.3097_3098dup (p.Pro1034GlyfsTer24) c.2077_2078dup (p.Pro694GlyfsTer24) c.2797_2798dup (p.Pro934GlyfsTer24) c.2947_2948dup (p.Pro984GlyfsTer24) c.2920_2921dup (p.Pro975GlyfsTer24) | ClinVar dbSNP |
7 | g.150947383G>A | CA007914 | KCNH2 | n.3930C>T c.3097C>T (p.Arg1033Trp) c.2077C>T (p.Arg693Trp) c.2797C>T (p.Arg933Trp) c.2947C>T (p.Arg983Trp) c.2920C>T (p.Arg974Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947383G>C | CA369852664 | KCNH2 | n.3930C>G c.3097C>G (p.Arg1033Gly) c.2077C>G (p.Arg693Gly) c.2797C>G (p.Arg933Gly) c.2947C>G (p.Arg983Gly) c.2920C>G (p.Arg974Gly) | |
7 | g.150947383G= | CA1752428736 | KCNH2 | n.3930C= c.3097C= (p.Arg1033=) c.2077C= (p.Arg693=) c.2797C= (p.Arg933=) c.2947C= (p.Arg983=) c.2920C= (p.Arg974=) | |
7 | g.150947383G>T | CA16605265 | KCNH2 | n.3930C>A c.3097C>A (p.Arg1033=) c.2077C>A (p.Arg693=) c.2797C>A (p.Arg933=) c.2947C>A (p.Arg983=) c.2920C>A (p.Arg974=) | ClinVar dbSNP gnomAD v4 |
7 | g.150947383dup | CA2695208789 | KCNH2 | n.3930dup c.3097dup (p.Arg1033ProfsTer?) c.2077dup (p.Arg693ProfsTer?) c.2797dup (p.Arg933ProfsTer?) c.2947dup (p.Arg983ProfsTer?) c.2920dup (p.Arg974ProfsTer?) | |
7 | g.150947383_150947384delinsAT | CA2739279285 | KCNH2 | n.3929_3930delinsAT c.3096_3097delinsAT (p.Arg1033Trp) c.2076_2077delinsAT (p.Arg693Trp) c.2796_2797delinsAT (p.Arg933Trp) c.2946_2947delinsAT (p.Arg983Trp) c.2919_2920delinsAT (p.Arg974Trp) | ClinVar |
7 | g.150947383_150947393delinsGCCGACCCGGG | CA1752428737 | KCNH2 | n.3920_3930delinsCCCGGGTCGGC c.3087_3097delinsCCCGGGTCGGC (p.Ser1029=) c.2067_2077delinsCCCGGGTCGGC (p.Ser689=) c.2787_2797delinsCCCGGGTCGGC (p.Ser929=) c.2937_2947delinsCCCGGGTCGGC (p.Ser979=) c.2910_2920delinsCCCGGGTCGGC (p.Ser970=) | |
7 | g.150947384C>A | CA458644849 | KCNH2 | n.3929G>T c.3096G>T (p.Arg1032=) c.2076G>T (p.Arg692=) c.2796G>T (p.Arg932=) c.2946G>T (p.Arg982=) c.2919G>T (p.Arg973=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150947384C= | CA1752428754 | KCNH2 | n.3929G= c.3096G= (p.Arg1032=) c.2076G= (p.Arg692=) c.2796G= (p.Arg932=) c.2946G= (p.Arg982=) c.2919G= (p.Arg973=) | |
7 | g.150947384C>G | CA458644848 | KCNH2 | n.3929G>C c.3096G>C (p.Arg1032=) c.2076G>C (p.Arg692=) c.2796G>C (p.Arg932=) c.2946G>C (p.Arg982=) c.2919G>C (p.Arg973=) | |
7 | g.150947384C>T | CA458644847 | KCNH2 | n.3929G>A c.3096G>A (p.Arg1032=) c.2076G>A (p.Arg692=) c.2796G>A (p.Arg932=) c.2946G>A (p.Arg982=) c.2919G>A (p.Arg973=) | gnomAD v4 |
7 | g.150947385_150947386insCGCCC | CA2695208790 | KCNH2 | n.3929_3930insGCGGG c.3096_3097insGCGGG (p.Arg1033AlafsTer26) c.2076_2077insGCGGG (p.Arg693AlafsTer26) c.2796_2797insGCGGG (p.Arg933AlafsTer26) c.2946_2947insGCGGG (p.Arg983AlafsTer26) c.2919_2920insGCGGG (p.Arg974AlafsTer26) | |
7 | g.150947385_150947390dup | CA579075357 | KCNH2 | n.3924_3929dup c.3091_3096dup (p.Arg1032_Arg1033insGlyArg) c.2071_2076dup (p.Arg692_Arg693insGlyArg) c.2791_2796dup (p.Arg932_Arg933insGlyArg) c.2941_2946dup (p.Arg982_Arg983insGlyArg) c.2914_2919dup (p.Arg973_Arg974insGlyArg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947387_150947391dup | CA658656013 | KCNH2 | n.3925_3929dup c.3092_3096dup (p.Arg1033ValfsTer26) c.2072_2076dup (p.Arg693ValfsTer26) c.2792_2796dup (p.Arg933ValfsTer26) c.2942_2946dup (p.Arg983ValfsTer26) c.2915_2919dup (p.Arg974ValfsTer26) | ClinVar dbSNP |
7 | g.150947387_150947391del | CA2778425790 | KCNH2 | n.3925_3929del c.3092_3096del (p.Gly1031AlafsTer?) c.2072_2076del (p.Gly691AlafsTer?) c.2792_2796del (p.Gly931AlafsTer?) c.2942_2946del (p.Gly981AlafsTer?) c.2915_2919del (p.Gly972AlafsTer?) | |
7 | g.150947384_150947393delinsGC | CA658797030 | KCNH2 | n.3920_3929delinsGC c.3087_3096delinsGC (p.Ser1029ArgfsTer?) c.2067_2076delinsGC (p.Ser689ArgfsTer?) c.2787_2796delinsGC (p.Ser929ArgfsTer?) c.2937_2946delinsGC (p.Ser979ArgfsTer?) c.2910_2919delinsGC (p.Ser970ArgfsTer?) | ClinVar dbSNP |
7 | g.150947385C>A | CA036959 | KCNH2 | n.3928G>T c.3095G>T (p.Arg1032Leu) c.2075G>T (p.Arg692Leu) c.2795G>T (p.Arg932Leu) c.2945G>T (p.Arg982Leu) c.2918G>T (p.Arg973Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150947385C= | CA1752428769 | KCNH2 | n.3928G= c.3095G= (p.Arg1032=) c.2075G= (p.Arg692=) c.2795G= (p.Arg932=) c.2945G= (p.Arg982=) c.2918G= (p.Arg973=) | |
7 | g.150947385C>G | CA169071899 | KCNH2 | n.3928G>C c.3095G>C (p.Arg1032Pro) c.2075G>C (p.Arg692Pro) c.2795G>C (p.Arg932Pro) c.2945G>C (p.Arg982Pro) c.2918G>C (p.Arg973Pro) | ClinVar dbSNP gnomAD v4 |
7 | g.150947385C>T | CA007902 | KCNH2 | n.3928G>A c.3095G>A (p.Arg1032Gln) c.2075G>A (p.Arg692Gln) c.2795G>A (p.Arg932Gln) c.2945G>A (p.Arg982Gln) c.2918G>A (p.Arg973Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947385_150947386delinsCG | CA1752428768 | KCNH2 | n.3927_3928delinsCG c.3094_3095delinsCG (p.Arg1032=) c.2074_2075delinsCG (p.Arg692=) c.2794_2795delinsCG (p.Arg932=) c.2944_2945delinsCG (p.Arg982=) c.2917_2918delinsCG (p.Arg973=) | |
7 | g.150947385_150947386dup | CA2697557664 | KCNH2 | n.3927_3928dup c.3094_3095dup (p.Arg1033GlyfsTer25) c.2074_2075dup (p.Arg693GlyfsTer25) c.2794_2795dup (p.Arg933GlyfsTer25) c.2944_2945dup (p.Arg983GlyfsTer25) c.2917_2918dup (p.Arg974GlyfsTer25) | ClinVar |
7 | g.150947386del | CA348971 | KCNH2 | n.3927del c.3094del (p.Arg1032GlyfsTer25) c.2074del (p.Arg692GlyfsTer25) c.2794del (p.Arg932GlyfsTer25) c.2944del (p.Arg982GlyfsTer25) c.2917del (p.Arg973GlyfsTer25) | ClinVar dbSNP |
7 | g.150947386G>A | CA007892 | KCNH2 | n.3927C>T c.3094C>T (p.Arg1032Trp) c.2074C>T (p.Arg692Trp) c.2794C>T (p.Arg932Trp) c.2944C>T (p.Arg982Trp) c.2917C>T (p.Arg973Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947386G>C | CA369852668 | KCNH2 | n.3927C>G c.3094C>G (p.Arg1032Gly) c.2074C>G (p.Arg692Gly) c.2794C>G (p.Arg932Gly) c.2944C>G (p.Arg982Gly) c.2917C>G (p.Arg973Gly) | ClinVar dbSNP gnomAD v4 |
7 | g.150947386G= | CA1752428781 | KCNH2 | n.3927C= c.3094C= (p.Arg1032=) c.2074C= (p.Arg692=) c.2794C= (p.Arg932=) c.2944C= (p.Arg982=) c.2917C= (p.Arg973=) | |
7 | g.150947386G>T | CA458644851 | KCNH2 | n.3927C>A c.3094C>A (p.Arg1032=) c.2074C>A (p.Arg692=) c.2794C>A (p.Arg932=) c.2944C>A (p.Arg982=) c.2917C>A (p.Arg973=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947386_150947387del | CA2580077711 | KCNH2 | n.3926_3927del c.3093_3094del (p.Arg1032AlafsTer?) c.2073_2074del (p.Arg692AlafsTer?) c.2793_2794del (p.Arg932AlafsTer?) c.2943_2944del (p.Arg982AlafsTer?) c.2916_2917del (p.Arg973AlafsTer?) | ClinVar |
7 | g.150947387A>C | CA458644852 | KCNH2 | n.3926T>G c.3093T>G (p.Gly1031=) c.2073T>G (p.Gly691=) c.2793T>G (p.Gly931=) c.2943T>G (p.Gly981=) c.2916T>G (p.Gly972=) | ClinVar gnomAD v4 |
7 | g.150947387A>G | CA458644853 | KCNH2 | n.3926T>C c.3093T>C (p.Gly1031=) c.2073T>C (p.Gly691=) c.2793T>C (p.Gly931=) c.2943T>C (p.Gly981=) c.2916T>C (p.Gly972=) | |
7 | g.150947387A>T | CA458644854 | KCNH2 | n.3926T>A c.3093T>A (p.Gly1031=) c.2073T>A (p.Gly691=) c.2793T>A (p.Gly931=) c.2943T>A (p.Gly981=) c.2916T>A (p.Gly972=) | |
7 | g.150947387_150947388delinsAC | CA1752428793 | KCNH2 | n.3925_3926delinsGT c.3092_3093delinsGT (p.Gly1031=) c.2072_2073delinsGT (p.Gly691=) c.2792_2793delinsGT (p.Gly931=) c.2942_2943delinsGT (p.Gly981=) c.2915_2916delinsGT (p.Gly972=) | |
7 | g.150947387_150947390dup | CA658797031 | KCNH2 | n.3923_3926dup c.3090_3093dup (p.Arg1032GlyfsTer?) c.2070_2073dup (p.Arg692GlyfsTer?) c.2790_2793dup (p.Arg932GlyfsTer?) c.2940_2943dup (p.Arg982GlyfsTer?) c.2913_2916dup (p.Arg973GlyfsTer?) | ClinVar dbSNP |
7 | g.150947388C>A | CA369852674 | KCNH2 | n.3925G>T c.3092G>T (p.Gly1031Val) c.2072G>T (p.Gly691Val) c.2792G>T (p.Gly931Val) c.2942G>T (p.Gly981Val) c.2915G>T (p.Gly972Val) | dbSNP gnomAD v2 |
7 | g.150947388C= | CA1752428804 | KCNH2 | n.3925G= c.3092G= (p.Gly1031=) c.2072G= (p.Gly691=) c.2792G= (p.Gly931=) c.2942G= (p.Gly981=) c.2915G= (p.Gly972=) | |
7 | g.150947388C>G | CA369852673 | KCNH2 | n.3925G>C c.3092G>C (p.Gly1031Ala) c.2072G>C (p.Gly691Ala) c.2792G>C (p.Gly931Ala) c.2942G>C (p.Gly981Ala) c.2915G>C (p.Gly972Ala) | |
7 | g.150947388C>T | CA369852672 | KCNH2 | n.3925G>A c.3092G>A (p.Gly1031Asp) c.2072G>A (p.Gly691Asp) c.2792G>A (p.Gly931Asp) c.2942G>A (p.Gly981Asp) c.2915G>A (p.Gly972Asp) | ClinVar dbSNP |
7 | g.150947390dup | CA2695208792 | KCNH2 | n.3925dup c.3092dup (p.Arg1032SerfsTer?) c.2072dup (p.Arg692SerfsTer?) c.2792dup (p.Arg932SerfsTer?) c.2942dup (p.Arg982SerfsTer?) c.2915dup (p.Arg973SerfsTer?) | |
7 | g.150947390del | CA1108704617 | KCNH2 | n.3925del c.3092del (p.Gly1031ValfsTer26) c.2072del (p.Gly691ValfsTer26) c.2792del (p.Gly931ValfsTer26) c.2942del (p.Gly981ValfsTer26) c.2915del (p.Gly972ValfsTer26) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150947391_150947392insCCCCG | CA2695208791 | KCNH2 | n.3925_3926insGCGGG c.3092_3093insGCGGG (p.Arg1033ValfsTer26) c.2072_2073insGCGGG (p.Arg693ValfsTer26) c.2792_2793insGCGGG (p.Arg933ValfsTer26) c.2942_2943insGCGGG (p.Arg983ValfsTer26) c.2915_2916insGCGGG (p.Arg974ValfsTer26) | |
7 | g.150947389_150947394del | CA2573141846 | KCNH2 | n.3920_3925del c.3087_3092del (p.Pro1030_Gly1031del) c.2067_2072del (p.Pro690_Gly691del) c.2787_2792del (p.Pro930_Gly931del) c.2937_2942del (p.Pro980_Gly981del) c.2910_2915del (p.Pro971_Gly972del) | ClinVar dbSNP |
7 | g.150947389C>A | CA369852676 | KCNH2 | n.3924G>T c.3091G>T (p.Gly1031Cys) c.2071G>T (p.Gly691Cys) c.2791G>T (p.Gly931Cys) c.2941G>T (p.Gly981Cys) c.2914G>T (p.Gly972Cys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947389C= | CA1752428814 | KCNH2 | n.3924G= c.3091G= (p.Gly1031=) c.2071G= (p.Gly691=) c.2791G= (p.Gly931=) c.2941G= (p.Gly981=) c.2914G= (p.Gly972=) | |
7 | g.150947389C>G | CA369852678 | KCNH2 | n.3924G>C c.3091G>C (p.Gly1031Arg) c.2071G>C (p.Gly691Arg) c.2791G>C (p.Gly931Arg) c.2941G>C (p.Gly981Arg) c.2914G>C (p.Gly972Arg) | |
7 | g.150947389C>T | CA369852679 | KCNH2 | n.3924G>A c.3091G>A (p.Gly1031Ser) c.2071G>A (p.Gly691Ser) c.2791G>A (p.Gly931Ser) c.2941G>A (p.Gly981Ser) c.2914G>A (p.Gly972Ser) | |
7 | g.150947390C>A | CA458644855 | KCNH2 | n.3923G>T c.3090G>T (p.Pro1030=) c.2070G>T (p.Pro690=) c.2790G>T (p.Pro930=) c.2940G>T (p.Pro980=) c.2913G>T (p.Pro971=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947390C= | CA1752428828 | KCNH2 | n.3923G= c.3090G= (p.Pro1030=) c.2070G= (p.Pro690=) c.2790G= (p.Pro930=) c.2940G= (p.Pro980=) c.2913G= (p.Pro971=) | |
7 | g.150947390C>G | CA036902 | KCNH2 | n.3923G>C c.3090G>C (p.Pro1030=) c.2070G>C (p.Pro690=) c.2790G>C (p.Pro930=) c.2940G>C (p.Pro980=) c.2913G>C (p.Pro971=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947390C>T | CA458644856 | KCNH2 | n.3923G>A c.3090G>A (p.Pro1030=) c.2070G>A (p.Pro690=) c.2790G>A (p.Pro930=) c.2940G>A (p.Pro980=) c.2913G>A (p.Pro971=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947390_150947392delinsCGG | CA1752428823 | KCNH2 | n.3921_3923delinsCCG c.3088_3090delinsCCG (p.Pro1030=) c.2068_2070delinsCCG (p.Pro690=) c.2788_2790delinsCCG (p.Pro930=) c.2938_2940delinsCCG (p.Pro980=) c.2911_2913delinsCCG (p.Pro971=) | |
7 | g.150947391_150947665dup | CA645372846 | KCNH2 | n.3740_3923dup c.2907_3090dup c.1887_2070dup c.2607_2790dup c.2757_2940dup c.2730_2913dup | ClinVar |
7 | g.150947391G>A | CA169071928 | KCNH2 | n.3922C>T c.3089C>T (p.Pro1030Leu) c.2069C>T (p.Pro690Leu) c.2789C>T (p.Pro930Leu) c.2939C>T (p.Pro980Leu) c.2912C>T (p.Pro971Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947391G>C | CA369852682 | KCNH2 | n.3922C>G c.3089C>G (p.Pro1030Arg) c.2069C>G (p.Pro690Arg) c.2789C>G (p.Pro930Arg) c.2939C>G (p.Pro980Arg) c.2912C>G (p.Pro971Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.150947391G= | CA1752428840 | KCNH2 | n.3922C= c.3089C= (p.Pro1030=) c.2069C= (p.Pro690=) c.2789C= (p.Pro930=) c.2939C= (p.Pro980=) c.2912C= (p.Pro971=) | |
7 | g.150947391G>T | CA369852683 | KCNH2 | n.3922C>A c.3089C>A (p.Pro1030Gln) c.2069C>A (p.Pro690Gln) c.2789C>A (p.Pro930Gln) c.2939C>A (p.Pro980Gln) c.2912C>A (p.Pro971Gln) | ClinVar gnomAD v4 |
7 | g.150947391_150947392delinsCGGGAGACCC | CA658823158 | KCNH2 | n.3921_3922delinsGGGTCTCCCG c.3088_3089delinsGGGTCTCCCG (p.Pro1030GlyfsTer30) c.2068_2069delinsGGGTCTCCCG (p.Pro690GlyfsTer30) c.2788_2789delinsGGGTCTCCCG (p.Pro930GlyfsTer30) c.2938_2939delinsGGGTCTCCCG (p.Pro980GlyfsTer30) c.2911_2912delinsGGGTCTCCCG (p.Pro971GlyfsTer30) | ClinVar dbSNP |
7 | g.150947392G>A | CA169071933 | KCNH2 | n.3921C>T c.3088C>T (p.Pro1030Ser) c.2068C>T (p.Pro690Ser) c.2788C>T (p.Pro930Ser) c.2938C>T (p.Pro980Ser) c.2911C>T (p.Pro971Ser) | dbSNP gnomAD v4 |
7 | g.150947392G>C | CA369852685 | KCNH2 | n.3921C>G c.3088C>G (p.Pro1030Ala) c.2068C>G (p.Pro690Ala) c.2788C>G (p.Pro930Ala) c.2938C>G (p.Pro980Ala) c.2911C>G (p.Pro971Ala) | |
7 | g.150947392G= | CA1752428848 | KCNH2 | n.3921C= c.3088C= (p.Pro1030=) c.2068C= (p.Pro690=) c.2788C= (p.Pro930=) c.2938C= (p.Pro980=) c.2911C= (p.Pro971=) | |
7 | g.150947392G>T | CA369852686 | KCNH2 | n.3921C>A c.3088C>A (p.Pro1030Thr) c.2068C>A (p.Pro690Thr) c.2788C>A (p.Pro930Thr) c.2938C>A (p.Pro980Thr) c.2911C>A (p.Pro971Thr) | gnomAD v4 |
7 | g.150947393G>A | CA458644858 | KCNH2 | n.3920C>T c.3087C>T (p.Ser1029=) c.2067C>T (p.Ser689=) c.2787C>T (p.Ser929=) c.2937C>T (p.Ser979=) c.2910C>T (p.Ser970=) | gnomAD v4 |
7 | g.150947393G>C | CA369852688 | KCNH2 | n.3920C>G c.3087C>G (p.Ser1029Arg) c.2067C>G (p.Ser689Arg) c.2787C>G (p.Ser929Arg) c.2937C>G (p.Ser979Arg) c.2910C>G (p.Ser970Arg) | |
7 | g.150947393G>T | CA369852690 | KCNH2 | n.3920C>A c.3087C>A (p.Ser1029Arg) c.2067C>A (p.Ser689Arg) c.2787C>A (p.Ser929Arg) c.2937C>A (p.Ser979Arg) c.2910C>A (p.Ser970Arg) | gnomAD v4 |
7 | g.150947393_150947394dup | CA2573141847 | KCNH2 | n.3919_3920dup c.3086_3087dup (p.Pro1030AlafsTer28) c.2066_2067dup (p.Pro690AlafsTer28) c.2786_2787dup (p.Pro930AlafsTer28) c.2936_2937dup (p.Pro980AlafsTer28) c.2909_2910dup (p.Pro971AlafsTer28) | ClinVar dbSNP |
7 | g.150947394C>A | CA369852695 | KCNH2 | n.3919G>T c.3086G>T (p.Ser1029Ile) c.2066G>T (p.Ser689Ile) c.2786G>T (p.Ser929Ile) c.2936G>T (p.Ser979Ile) c.2909G>T (p.Ser970Ile) | gnomAD v4 |
7 | g.150947394C>G | CA369852693 | KCNH2 | n.3919G>C c.3086G>C (p.Ser1029Thr) c.2066G>C (p.Ser689Thr) c.2786G>C (p.Ser929Thr) c.2936G>C (p.Ser979Thr) c.2909G>C (p.Ser970Thr) | |
7 | g.150947394C>T | CA369852691 | KCNH2 | n.3919G>A c.3086G>A (p.Ser1029Asn) c.2066G>A (p.Ser689Asn) c.2786G>A (p.Ser929Asn) c.2936G>A (p.Ser979Asn) c.2909G>A (p.Ser970Asn) | gnomAD v4 |
7 | g.150947395T>A | CA369852697 | KCNH2 | n.3918A>T c.3085A>T (p.Ser1029Cys) c.2065A>T (p.Ser689Cys) c.2785A>T (p.Ser929Cys) c.2935A>T (p.Ser979Cys) c.2908A>T (p.Ser970Cys) | |
7 | g.150947395T>C | CA369852699 | KCNH2 | n.3918A>G c.3085A>G (p.Ser1029Gly) c.2065A>G (p.Ser689Gly) c.2785A>G (p.Ser929Gly) c.2935A>G (p.Ser979Gly) c.2908A>G (p.Ser970Gly) | gnomAD v4 |
7 | g.150947395T>G | CA369852698 | KCNH2 | n.3918A>C c.3085A>C (p.Ser1029Arg) c.2065A>C (p.Ser689Arg) c.2785A>C (p.Ser929Arg) c.2935A>C (p.Ser979Arg) c.2908A>C (p.Ser970Arg) |