| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.40784079_40784150del | CA2743310923 | KCNQ4 | c.-15_57del | |
| 1 | g.40784086_40784140del | CA2645130766 | KCNQ4 | c.-8_47del | gnomAD v4 |
| 1 | g.40784084_40784110delinsGGCGCCGCCCATGGCCGAGGCCCCCCC | CA1164531064 | KCNQ4 | c.-10_17delinsGGCGCCGCCCATGGCCGAGGCCCCCCC | |
| 1 | g.40784093_40784118del | CA1000909457 | KCNQ4 | c.-1_25del | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784101_40784139del | CA2645130880 | KCNQ4 | c.8_46del (p.Glu3_Pro15del) n.14_52del | gnomAD v4 |
| 1 | g.40784102_40784143del | CA2645130892 | KCNQ4 | c.9_50del (p.Glu3_Gly16del) n.15_56del | gnomAD v4 |
| 1 | g.40784110_40784151del | CA2645130902 | KCNQ4 | c.17_58del (p.Pro6_Pro19del) n.23_64del | gnomAD v4 |
| 1 | g.40784110dup | CA522803444 | KCNQ4 | c.17dup (p.Arg7AlafsTer?) n.23dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784109_40784110dup | CA2645130913 | KCNQ4 | c.16_17dup (p.Arg8AlafsTer17) n.22_23dup | gnomAD v4 |
| 1 | g.40784110del | CA645523677 | KCNQ4 | c.17del (p.Pro6ArgfsTer18) n.23del | gnomAD v4 COSMIC |
| 1 | g.40784109_40784110del | CA2574332508 | KCNQ4 | c.16_17del (p.Pro6AlafsTer?) n.22_23del | gnomAD v4 |
| 1 | g.40784104_40784145delinsCCCCCCCGCGCCGCCTCGGCCTGGGTCCCCCGCCCGGGGACG | CA1164531073 | KCNQ4 | c.11_52delinsCCCCCCCGCGCCGCCTCGGCCTGGGTCCCCCGCCCGGGGACG (p.Ala4=) n.17_58delinsCCCCCCCGCGCCGCCTCGGCCTGGGTCCCCCGCCCGGGGACG | |
| 1 | g.40784110_40784134del | CA2645130931 | KCNQ4 | c.17_41del (p.Pro6ArgfsTer10) n.23_47del | gnomAD v4 |
| 1 | g.40784115_40784155del | CA1000909479 | KCNQ4 | c.22_62del (p.Arg8GlyfsTer?) n.28_68del | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784106_40784213del | CA2645130930 | KCNQ4 | c.13_120del (p.Pro5_Gly40del) n.19_126del | gnomAD v4 |
| 1 | g.40784106C>A | CA339884781 | KCNQ4 | c.13C>A (p.Pro5Thr) n.19C>A | gnomAD v4 |
| 1 | g.40784106C= | CA1164531076 | KCNQ4 | c.13C= (p.Pro5=) n.19C= | |
| 1 | g.40784106C>G | CA339884784 | KCNQ4 | c.13C>G (p.Pro5Ala) n.19C>G | |
| 1 | g.40784106C>T | CA339884789 | KCNQ4 | c.13C>T (p.Pro5Ser) n.19C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784107C>A | CA339884801 | KCNQ4 | c.14C>A (p.Pro5His) n.20C>A | gnomAD v4 |
| 1 | g.40784107C= | CA1164531077 | KCNQ4 | c.14C= (p.Pro5=) n.20C= | |
| 1 | g.40784107C>G | CA339884799 | KCNQ4 | c.14C>G (p.Pro5Arg) n.20C>G | |
| 1 | g.40784107C>T | CA339884800 | KCNQ4 | c.14C>T (p.Pro5Leu) n.20C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784126_40784233del | CA1000909486 | KCNQ4 | c.33_140del (p.Gly12_Leu47del) n.39_146del | gnomAD v3 gnomAD v4 |
| 1 | g.40784108C>A | CA417534743 | KCNQ4 | c.15C>A (p.Pro5=) n.21C>A | dbSNP gnomAD v4 |
| 1 | g.40784108C= | CA1164531078 | KCNQ4 | c.15C= (p.Pro5=) n.21C= | |
| 1 | g.40784108C>G | CA417534745 | KCNQ4 | c.15C>G (p.Pro5=) n.21C>G | gnomAD v4 |
| 1 | g.40784108C>T | CA21088991 | KCNQ4 | c.15C>T (p.Pro5=) n.21C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784109C>A | CA339884804 | KCNQ4 | c.16C>A (p.Pro6Thr) n.22C>A | gnomAD v4 |
| 1 | g.40784109C>G | CA339884805 | KCNQ4 | c.16C>G (p.Pro6Ala) n.22C>G | gnomAD v4 |
| 1 | g.40784109C>T | CA339884807 | KCNQ4 | c.16C>T (p.Pro6Ser) n.22C>T | gnomAD v4 |
| 1 | g.40784110C>A | CA339884809 | KCNQ4 | c.17C>A (p.Pro6Gln) n.23C>A | dbSNP gnomAD v4 |
| 1 | g.40784110C= | CA1164531079 | KCNQ4 | c.17C= (p.Pro6=) n.23C= | |
| 1 | g.40784110C>G | CA339884810 | KCNQ4 | c.17C>G (p.Pro6Arg) n.23C>G | gnomAD v4 |
| 1 | g.40784110C>T | CA339884811 | KCNQ4 | c.17C>T (p.Pro6Leu) n.23C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784110_40784111insA | CA2645130933 | KCNQ4 | c.17_18insA (p.Arg7AlafsTer?) n.23_24insA | gnomAD v4 |
| 1 | g.40784111del | CA2645130935 | KCNQ4 | c.18del (p.Arg7AlafsTer17) n.24del | gnomAD v4 |
| 1 | g.40784111G>A | CA417534750 | KCNQ4 | c.18G>A (p.Pro6=) n.24G>A | gnomAD v4 |
| 1 | g.40784111G>C | CA417534749 | KCNQ4 | c.18G>C (p.Pro6=) n.24G>C | gnomAD v4 |
| 1 | g.40784111G>T | CA417534751 | KCNQ4 | c.18G>T (p.Pro6=) n.24G>T | gnomAD v4 |
| 1 | g.40784112C>A | CA339884812 | KCNQ4 | c.19C>A (p.Arg7Ser) n.25C>A | gnomAD v4 |
| 1 | g.40784112C>G | CA339884813 | KCNQ4 | c.19C>G (p.Arg7Gly) n.25C>G | |
| 1 | g.40784112C>T | CA339884814 | KCNQ4 | c.19C>T (p.Arg7Cys) n.25C>T | gnomAD v4 |
| 1 | g.40784113del | CA2574332516 | KCNQ4 | c.20del (p.Arg7ProfsTer17) n.26del | |
| 1 | g.40784113G>A | CA339884816 | KCNQ4 | c.20G>A (p.Arg7His) n.26G>A | dbSNP gnomAD v4 |
| 1 | g.40784113G>C | CA339884818 | KCNQ4 | c.20G>C (p.Arg7Pro) n.26G>C | gnomAD v4 |
| 1 | g.40784113G= | CA1164531080 | KCNQ4 | c.20G= (p.Arg7=) n.26G= | |
| 1 | g.40784113G>T | CA339884821 | KCNQ4 | c.20G>T (p.Arg7Leu) n.26G>T | gnomAD v4 |
| 1 | g.40784114C>A | CA417534756 | KCNQ4 | c.21C>A (p.Arg7=) n.27C>A | gnomAD v4 |
| 1 | g.40784114C>G | CA417534757 | KCNQ4 | c.21C>G (p.Arg7=) n.27C>G | gnomAD v4 |
| 1 | g.40784114C>T | CA417534758 | KCNQ4 | c.21C>T (p.Arg7=) n.27C>T | gnomAD v4 |
| 1 | g.40784115del | CA2645130943 | KCNQ4 | c.22del (p.Arg8AlafsTer16) n.28del | gnomAD v4 |
| 1 | g.40784114_40784118del | CA2645130945 | KCNQ4 | c.21_25del (p.Leu9ProfsTer?) n.27_31del | gnomAD v4 |
| 1 | g.40784115_40784138del | CA2574332519 | KCNQ4 | c.22_45del (p.Arg8_Pro15del) n.28_51del | |
| 1 | g.40784115C>A | CA339884831 | KCNQ4 | c.22C>A (p.Arg8Ser) n.28C>A | gnomAD v4 |
| 1 | g.40784115C>G | CA339884835 | KCNQ4 | c.22C>G (p.Arg8Gly) n.28C>G | gnomAD v4 |
| 1 | g.40784115C>T | CA339884833 | KCNQ4 | c.22C>T (p.Arg8Cys) n.28C>T | gnomAD v4 |
| 1 | g.40784116G>A | CA339884838 | KCNQ4 | c.23G>A (p.Arg8His) n.29G>A | gnomAD v4 |
| 1 | g.40784116G>C | CA339884842 | KCNQ4 | c.23G>C (p.Arg8Pro) n.29G>C | |
| 1 | g.40784116G= | CA1164531081 | KCNQ4 | c.23G= (p.Arg8=) n.29G= | |
| 1 | g.40784116G>T | CA339884840 | KCNQ4 | c.23G>T (p.Arg8Leu) n.29G>T | dbSNP gnomAD v4 |
| 1 | g.40784117_40784157del | CA2645130953 | KCNQ4 | c.24_64del (p.Leu9AlafsTer?) n.30_70del | gnomAD v4 |
| 1 | g.40784116_40784117insA | CA2645130955 | KCNQ4 | c.23_24insA (p.Leu9ProfsTer?) n.29_30insA | gnomAD v4 |
| 1 | g.40784117C>A | CA417534759 | KCNQ4 | c.24C>A (p.Arg8=) n.30C>A | gnomAD v4 |
| 1 | g.40784117C>G | CA417534762 | KCNQ4 | c.24C>G (p.Arg8=) n.30C>G | gnomAD v4 |
| 1 | g.40784117C>T | CA417534760 | KCNQ4 | c.24C>T (p.Arg8=) n.30C>T | gnomAD v4 |
| 1 | g.40784118C>A | CA339884846 | KCNQ4 | c.25C>A (p.Leu9Ile) n.31C>A | gnomAD v4 |
| 1 | g.40784118C>G | CA339884848 | KCNQ4 | c.25C>G (p.Leu9Val) n.31C>G | |
| 1 | g.40784118C>T | CA339884849 | KCNQ4 | c.25C>T (p.Leu9Phe) n.31C>T | gnomAD v4 |
| 1 | g.40784119T>A | CA339884853 | KCNQ4 | c.26T>A (p.Leu9His) n.32T>A | gnomAD v4 |
| 1 | g.40784119T>C | CA339884856 | KCNQ4 | c.26T>C (p.Leu9Pro) n.32T>C | gnomAD v4 |
| 1 | g.40784119T>G | CA339884857 | KCNQ4 | c.26T>G (p.Leu9Arg) n.32T>G | |
| 1 | g.40784120C>A | CA417534764 | KCNQ4 | c.27C>A (p.Leu9=) n.33C>A | gnomAD v4 |
| 1 | g.40784120C= | CA1164531082 | KCNQ4 | c.27C= (p.Leu9=) n.33C= | |
| 1 | g.40784120C>G | CA417534765 | KCNQ4 | c.27C>G (p.Leu9=) n.33C>G | gnomAD v4 |
| 1 | g.40784120C>T | CA417534766 | KCNQ4 | c.27C>T (p.Leu9=) n.33C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784120_40784155del | CA2645130968 | KCNQ4 | c.27_62del (p.Gly10_Ala21del) n.33_68del | gnomAD v4 |
| 1 | g.40784121G>A | CA339884859 | KCNQ4 | c.28G>A (p.Gly10Ser) n.34G>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.40784121G>C | CA339884861 | KCNQ4 | c.28G>C (p.Gly10Arg) n.34G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784121G= | CA1164531083 | KCNQ4 | c.28G= (p.Gly10=) n.34G= | |
| 1 | g.40784121G>T | CA339884863 | KCNQ4 | c.28G>T (p.Gly10Cys) n.34G>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784122G>A | CA339884865 | KCNQ4 | c.29G>A (p.Gly10Asp) n.35G>A | gnomAD v4 |
| 1 | g.40784122G>C | CA339884868 | KCNQ4 | c.29G>C (p.Gly10Ala) n.35G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784122G= | CA1164531084 | KCNQ4 | c.29G= (p.Gly10=) n.35G= | |
| 1 | g.40784122G>T | CA339884869 | KCNQ4 | c.29G>T (p.Gly10Val) n.35G>T | gnomAD v4 |
| 1 | g.40784123C>A | CA417534767 | KCNQ4 | c.30C>A (p.Gly10=) n.36C>A | gnomAD v4 |
| 1 | g.40784123C>G | CA417534769 | KCNQ4 | c.30C>G (p.Gly10=) n.36C>G | |
| 1 | g.40784123C>T | CA417534770 | KCNQ4 | c.30C>T (p.Gly10=) n.36C>T | gnomAD v4 |
| 1 | g.40784124C>A | CA339884872 | KCNQ4 | c.31C>A (p.Leu11Met) n.37C>A | gnomAD v4 |
| 1 | g.40784124C>G | CA339884876 | KCNQ4 | c.31C>G (p.Leu11Val) n.37C>G | |
| 1 | g.40784124C>T | CA417534772 | KCNQ4 | c.31C>T (p.Leu11=) n.37C>T | gnomAD v4 |
| 1 | g.40784124_40784125insA | CA2574332531 | KCNQ4 | c.31_32insA (p.Leu11HisfsTer?) n.37_38insA | |
| 1 | g.40784125T>A | CA339884878 | KCNQ4 | c.32T>A (p.Leu11Gln) n.38T>A | gnomAD v4 |
| 1 | g.40784125T>C | CA339884880 | KCNQ4 | c.32T>C (p.Leu11Pro) n.38T>C | gnomAD v4 |
| 1 | g.40784125T>G | CA339884882 | KCNQ4 | c.32T>G (p.Leu11Arg) n.38T>G | gnomAD v4 |
| 1 | g.40784126G>A | CA417534775 | KCNQ4 | c.33G>A (p.Leu11=) n.39G>A | gnomAD v4 |
| 1 | g.40784126G>C | CA417534773 | KCNQ4 | c.33G>C (p.Leu11=) n.39G>C | gnomAD v4 |
| 1 | g.40784126G>T | CA417534774 | KCNQ4 | c.33G>T (p.Leu11=) n.39G>T | gnomAD v4 |
| 1 | g.40784128del | CA2574332536 | KCNQ4 | c.35del (p.Gly12ValfsTer12) n.41del | gnomAD v4 |
| 1 | g.40784127_40784128del | CA2645131004 | KCNQ4 | c.34_35del (p.Gly12SerfsTer?) n.40_41del | gnomAD v4 |
| 1 | g.40784127G>A | CA339884884 | KCNQ4 | c.34G>A (p.Gly12Ser) n.40G>A | gnomAD v4 |
| 1 | g.40784127G>C | CA339884886 | KCNQ4 | c.34G>C (p.Gly12Arg) n.40G>C | gnomAD v4 |
| 1 | g.40784127G>T | CA339884888 | KCNQ4 | c.34G>T (p.Gly12Cys) n.40G>T | gnomAD v4 |
| 1 | g.40784128G>A | CA794439 | KCNQ4 | c.35G>A (p.Gly12Asp) n.41G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784128G>C | CA339884891 | KCNQ4 | c.35G>C (p.Gly12Ala) n.41G>C | gnomAD v4 |
| 1 | g.40784128G= | CA1164531085 | KCNQ4 | c.35G= (p.Gly12=) n.41G= | |
| 1 | g.40784128G>T | CA339884896 | KCNQ4 | c.35G>T (p.Gly12Val) n.41G>T | gnomAD v4 |
| 1 | g.40784128_40784129insCG | CA2645131009 | KCNQ4 | c.35_36insCG (p.Pro13ValfsTer12) n.41_42insCG | gnomAD v4 |
| 1 | g.40784129T>A | CA417534946 | KCNQ4 | c.36T>A (p.Gly12=) n.42T>A | gnomAD v4 |
| 1 | g.40784129T>C | CA417534947 | KCNQ4 | c.36T>C (p.Gly12=) n.42T>C | gnomAD v4 |
| 1 | g.40784129T>G | CA417534948 | KCNQ4 | c.36T>G (p.Gly12=) n.42T>G | gnomAD v4 |
| 1 | g.40784129T= | CA1164531086 | KCNQ4 | c.36T= (p.Gly12=) n.42T= | |
| 1 | g.40784130C>A | CA339884899 | KCNQ4 | c.37C>A (p.Pro13Thr) n.43C>A | dbSNP gnomAD v4 |
| 1 | g.40784130C= | CA1164531088 | KCNQ4 | c.37C= (p.Pro13=) n.43C= | |
| 1 | g.40784130C>G | CA339884905 | KCNQ4 | c.37C>G (p.Pro13Ala) n.43C>G | dbSNP gnomAD v4 |
| 1 | g.40784130C>T | CA339884908 | KCNQ4 | c.37C>T (p.Pro13Ser) n.43C>T | gnomAD v4 |
| 1 | g.40784134dup | CA2645131019 | KCNQ4 | c.41dup (p.Pro15AlafsTer?) n.47dup | gnomAD v4 |
| 1 | g.40784134del | CA2645131021 | KCNQ4 | c.41del (p.Pro14ArgfsTer10) n.47del | gnomAD v4 |
| 1 | g.40784133_40784134del | CA2645131023 | KCNQ4 | c.40_41del (p.Pro14AlafsTer?) n.46_47del | gnomAD v4 |
| 1 | g.40784137_40784153dup | CA1164531087 | KCNQ4 | c.44_60dup (p.Ala21ProfsTer9) n.50_66dup | ClinVar dbSNP |
| 1 | g.40784137_40784153del | CA2645131025 | KCNQ4 | c.44_60del (p.Pro15ArgfsTer?) n.50_66del | gnomAD v4 |
| 1 | g.40784131C>A | CA339884911 | KCNQ4 | c.38C>A (p.Pro13His) n.44C>A | gnomAD v4 |
| 1 | g.40784131C>G | CA339884913 | KCNQ4 | c.38C>G (p.Pro13Arg) n.44C>G | |
| 1 | g.40784131C>T | CA339884912 | KCNQ4 | c.38C>T (p.Pro13Leu) n.44C>T | gnomAD v4 |
| 1 | g.40784134_40784138del | CA2645131035 | KCNQ4 | c.41_45del (p.Pro14ArgfsTer?) n.47_51del | gnomAD v4 |
| 1 | g.40784132C>A | CA417534951 | KCNQ4 | c.39C>A (p.Pro13=) n.45C>A | gnomAD v4 |
| 1 | g.40784132C>G | CA417534952 | KCNQ4 | c.39C>G (p.Pro13=) n.45C>G | gnomAD v4 |
| 1 | g.40784132C>T | CA417534953 | KCNQ4 | c.39C>T (p.Pro13=) n.45C>T | gnomAD v4 |
| 1 | g.40784133C>A | CA339884914 | KCNQ4 | c.40C>A (p.Pro14Thr) n.46C>A | gnomAD v4 |
| 1 | g.40784133C>G | CA339884915 | KCNQ4 | c.40C>G (p.Pro14Ala) n.46C>G | gnomAD v4 |
| 1 | g.40784133C>T | CA339884917 | KCNQ4 | c.40C>T (p.Pro14Ser) n.46C>T | gnomAD v4 |
| 1 | g.40784134C>A | CA339884933 | KCNQ4 | c.41C>A (p.Pro14Gln) n.47C>A | gnomAD v4 |
| 1 | g.40784134C= | CA1164531089 | KCNQ4 | c.41C= (p.Pro14=) n.47C= | |
| 1 | g.40784134C>G | CA339884936 | KCNQ4 | c.41C>G (p.Pro14Arg) n.47C>G | gnomAD v4 |
| 1 | g.40784134C>T | CA21089000 | KCNQ4 | c.41C>T (p.Pro14Leu) n.47C>T | dbSNP gnomAD v4 |
| 1 | g.40784134_40784141del | CA2645131043 | KCNQ4 | c.41_48del (p.Pro14ArgfsTer?) n.47_54del | gnomAD v4 |
| 1 | g.40784135del | CA2645131054 | KCNQ4 | c.42del (p.Asp17ThrfsTer7) n.48del | gnomAD v4 |
| 1 | g.40784135G>A | CA417534955 | KCNQ4 | c.42G>A (p.Pro14=) n.48G>A | gnomAD v4 |
| 1 | g.40784135G>C | CA417534956 | KCNQ4 | c.42G>C (p.Pro14=) n.48G>C | gnomAD v4 |
| 1 | g.40784135G= | CA1149125511 | KCNQ4 | c.42G= (p.Pro14=) n.48G= | |
| 1 | g.40784135G>T | CA794440 | KCNQ4 | c.42G>T (p.Pro14=) n.48G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784136C>A | CA339884937 | KCNQ4 | c.43C>A (p.Pro15Thr) n.49C>A | gnomAD v4 |
| 1 | g.40784136C= | CA1164531090 | KCNQ4 | c.43C= (p.Pro15=) n.49C= | |
| 1 | g.40784136C>G | CA339884938 | KCNQ4 | c.43C>G (p.Pro15Ala) n.49C>G | dbSNP gnomAD v4 |
| 1 | g.40784136C>T | CA339884939 | KCNQ4 | c.43C>T (p.Pro15Ser) n.49C>T | gnomAD v4 |
| 1 | g.40784138del | CA2574332545 | KCNQ4 | c.45del (p.Asp17ThrfsTer7) n.51del | gnomAD v4 |
| 1 | g.40784137C>A | CA339884940 | KCNQ4 | c.44C>A (p.Pro15His) n.50C>A | gnomAD v4 |
| 1 | g.40784137C= | CA1164531091 | KCNQ4 | c.44C= (p.Pro15=) n.50C= | |
| 1 | g.40784137C>G | CA339884941 | KCNQ4 | c.44C>G (p.Pro15Arg) n.50C>G | gnomAD v4 |
| 1 | g.40784137C>T | CA339884942 | KCNQ4 | c.44C>T (p.Pro15Leu) n.50C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784138C>A | CA417534960 | KCNQ4 | c.45C>A (p.Pro15=) n.51C>A | gnomAD v4 |
| 1 | g.40784138C>G | CA417534961 | KCNQ4 | c.45C>G (p.Pro15=) n.51C>G | gnomAD v4 |
| 1 | g.40784138C>T | CA417534962 | KCNQ4 | c.45C>T (p.Pro15=) n.51C>T | gnomAD v4 |
| 1 | g.40784138_40784139delinsCG | CA1164531092 | KCNQ4 | c.45_46delinsCG (p.Pro15=) n.51_52delinsCG | |
| 1 | g.40784139G>A | CA339884943 | KCNQ4 | c.46G>A (p.Gly16Arg) n.52G>A | gnomAD v4 |
| 1 | g.40784139G>C | CA339884945 | KCNQ4 | c.46G>C (p.Gly16Arg) n.52G>C | dbSNP gnomAD v4 |
| 1 | g.40784139G= | CA1164531093 | KCNQ4 | c.46G= (p.Gly16=) n.52G= | |
| 1 | g.40784139G>T | CA339884944 | KCNQ4 | c.46G>T (p.Gly16Trp) n.52G>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784142dup | CA2645131074 | KCNQ4 | c.49dup (p.Asp17GlyfsTer?) n.55dup | gnomAD v4 |
| 1 | g.40784142del | CA522803452 | KCNQ4 | c.49del (p.Asp17ThrfsTer7) n.55del | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784141_40784142del | CA2574332554 | KCNQ4 | c.48_49del (p.Asp17ArgfsTer?) n.54_55del | gnomAD v4 |
| 1 | g.40784140G>A | CA339884946 | KCNQ4 | c.47G>A (p.Gly16Glu) n.53G>A | gnomAD v4 |
| 1 | g.40784140G>C | CA339884947 | KCNQ4 | c.47G>C (p.Gly16Ala) n.53G>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784140G= | CA1164531094 | KCNQ4 | c.47G= (p.Gly16=) n.53G= | |
| 1 | g.40784140G>T | CA339884948 | KCNQ4 | c.47G>T (p.Gly16Val) n.53G>T | gnomAD v4 |
| 1 | g.40784141G>A | CA417534966 | KCNQ4 | c.48G>A (p.Gly16=) n.54G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784141G>C | CA417534967 | KCNQ4 | c.48G>C (p.Gly16=) n.54G>C | gnomAD v4 |
| 1 | g.40784141G= | CA1164531095 | KCNQ4 | c.48G= (p.Gly16=) n.54G= | |
| 1 | g.40784141G>T | CA417534969 | KCNQ4 | c.48G>T (p.Gly16=) n.54G>T | gnomAD v4 |
| 1 | g.40784142_40784154del | CA2645131079 | KCNQ4 | c.49_61del (p.Asp17ArgfsTer3) n.55_67del | gnomAD v4 |
| 1 | g.40784142G>A | CA339884949 | KCNQ4 | c.49G>A (p.Asp17Asn) n.55G>A | gnomAD v4 |
| 1 | g.40784142G>C | CA339884950 | KCNQ4 | c.49G>C (p.Asp17His) n.55G>C | dbSNP gnomAD v4 |
| 1 | g.40784142G= | CA1164531096 | KCNQ4 | c.49G= (p.Asp17=) n.55G= | |
| 1 | g.40784142G>T | CA339884951 | KCNQ4 | c.49G>T (p.Asp17Tyr) n.55G>T | gnomAD v4 |
| 1 | g.40784143del | CA2574332558 | KCNQ4 | c.50del (p.Asp17AlafsTer7) n.56del | |
| 1 | g.40784143A>C | CA339884952 | KCNQ4 | c.50A>C (p.Asp17Ala) n.56A>C | ClinVar dbSNP |
| 1 | g.40784143A>G | CA339884953 | KCNQ4 | c.50A>G (p.Asp17Gly) n.56A>G | dbSNP gnomAD v4 |
| 1 | g.40784143A>T | CA339884954 | KCNQ4 | c.50A>T (p.Asp17Val) n.56A>T | gnomAD v4 |
| 1 | g.40784143_40784144del | CA2645131091 | KCNQ4 | c.50_51del (p.Asp17GlyfsTer?) n.56_57del | gnomAD v4 |
| 1 | g.40784144C>A | CA339884955 | KCNQ4 | c.51C>A (p.Asp17Glu) n.57C>A | gnomAD v4 |
| 1 | g.40784144C= | CA1164531097 | KCNQ4 | c.51C= (p.Asp17=) n.57C= | |
| 1 | g.40784144C>G | CA339884956 | KCNQ4 | c.51C>G (p.Asp17Glu) n.57C>G | gnomAD v4 |
| 1 | g.40784144C>T | CA417534975 | KCNQ4 | c.51C>T (p.Asp17=) n.57C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784145del | CA2574332561 | KCNQ4 | c.52del (p.Ala18ProfsTer6) n.58del | gnomAD v4 |
| 1 | g.40784145G>A | CA339884958 | KCNQ4 | c.52G>A (p.Ala18Thr) n.58G>A | gnomAD v4 |
| 1 | g.40784145G>C | CA339884959 | KCNQ4 | c.52G>C (p.Ala18Pro) n.58G>C | gnomAD v4 |
| 1 | g.40784145G= | CA1164531098 | KCNQ4 | c.52G= (p.Ala18=) n.58G= | |
| 1 | g.40784145G>T | CA339884957 | KCNQ4 | c.52G>T (p.Ala18Ser) n.58G>T | gnomAD v4 |
| 1 | g.40784145_40784146delinsAG | CA2580062739 | KCNQ4 | c.52_53delinsAG (p.Ala18Ser) n.58_59delinsAG | ClinVar |
| 1 | g.40784146C>A | CA339884960 | KCNQ4 | c.53C>A (p.Ala18Asp) n.59C>A | dbSNP gnomAD v4 |
| 1 | g.40784146C= | CA1164531099 | KCNQ4 | c.53C= (p.Ala18=) n.59C= | |
| 1 | g.40784146C>G | CA339884962 | KCNQ4 | c.53C>G (p.Ala18Gly) n.59C>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784146C>T | CA339884961 | KCNQ4 | c.53C>T (p.Ala18Val) n.59C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.40784151dup | CA794441 | KCNQ4 | c.58dup (p.Arg20ProfsTer?) n.64dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40784150_40784151dup | CA2743310924 | KCNQ4 | c.57_58dup (p.Arg20ProfsTer5) n.63_64dup | |
| 1 | g.40784149_40784151dup | CA2743310925 | KCNQ4 | c.56_58dup (p.Pro19_Arg20insPro) n.62_64dup | |
| 1 | g.40784151del | CA522803453 | KCNQ4 | c.58del (p.Arg20AlafsTer4) n.64del | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784150_40784151del | CA2645131105 | KCNQ4 | c.57_58del (p.Ala21GlyfsTer?) n.63_64del | gnomAD v4 |
| 1 | g.40784147C>A | CA417534983 | KCNQ4 | c.54C>A (p.Ala18=) n.60C>A | gnomAD v4 |
| 1 | g.40784147C>G | CA417534981 | KCNQ4 | c.54C>G (p.Ala18=) n.60C>G | gnomAD v4 |
| 1 | g.40784147C>T | CA417534982 | KCNQ4 | c.54C>T (p.Ala18=) n.60C>T | gnomAD v4 |
| 1 | g.40784147_40784148insGT | CA2645131114 | KCNQ4 | c.54_55insGT (p.Pro19ValfsTer6) n.60_61insGT | gnomAD v4 |
| 1 | g.40784148C>A | CA339884963 | KCNQ4 | c.55C>A (p.Pro19Thr) n.61C>A | gnomAD v4 |
| 1 | g.40784148C= | CA1164531100 | KCNQ4 | c.55C= (p.Pro19=) n.61C= | |
| 1 | g.40784148C>G | CA339884965 | KCNQ4 | c.55C>G (p.Pro19Ala) n.61C>G | gnomAD v4 |
| 1 | g.40784148C>T | CA339884964 | KCNQ4 | c.55C>T (p.Pro19Ser) n.61C>T | dbSNP gnomAD v4 |
| 1 | g.40784149C>A | CA339884966 | KCNQ4 | c.56C>A (p.Pro19His) n.62C>A | gnomAD v4 |
| 1 | g.40784149C>G | CA339884968 | KCNQ4 | c.56C>G (p.Pro19Arg) n.62C>G | |
| 1 | g.40784149C>T | CA339884967 | KCNQ4 | c.56C>T (p.Pro19Leu) n.62C>T | gnomAD v4 |
| 1 | g.40784150C>A | CA417534984 | KCNQ4 | c.57C>A (p.Pro19=) n.63C>A | gnomAD v4 |
| 1 | g.40784150C>G | CA417534985 | KCNQ4 | c.57C>G (p.Pro19=) n.63C>G | |
| 1 | g.40784150C>T | CA417534988 | KCNQ4 | c.57C>T (p.Pro19=) n.63C>T | gnomAD v4 |
| 1 | g.40784151C>A | CA339884969 | KCNQ4 | c.58C>A (p.Arg20Ser) n.64C>A | gnomAD v4 |
| 1 | g.40784151C= | CA1164531101 | KCNQ4 | c.58C= (p.Arg20=) n.64C= | |
| 1 | g.40784151C>G | CA339884971 | KCNQ4 | c.58C>G (p.Arg20Gly) n.64C>G | dbSNP gnomAD v4 |
| 1 | g.40784151C>T | CA339884970 | KCNQ4 | c.58C>T (p.Arg20Cys) n.64C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784155_40784156del | CA2645131122 | KCNQ4 | c.62_63del (p.Ala21GlyfsTer?) n.68_69del | gnomAD v4 |
| 1 | g.40784152del | CA2645131126 | KCNQ4 | c.59del (p.Arg20ProfsTer4) n.65del | gnomAD v4 |
| 1 | g.40784152G>A | CA339884972 | KCNQ4 | c.59G>A (p.Arg20His) n.65G>A | gnomAD v4 |
| 1 | g.40784152G>C | CA339884973 | KCNQ4 | c.59G>C (p.Arg20Pro) n.65G>C | gnomAD v4 |
| 1 | g.40784152G>T | CA339884974 | KCNQ4 | c.59G>T (p.Arg20Leu) n.65G>T | gnomAD v4 |
| 1 | g.40784153C>A | CA417534993 | KCNQ4 | c.60C>A (p.Arg20=) n.66C>A | gnomAD v4 |
| 1 | g.40784153C= | CA1164531102 | KCNQ4 | c.60C= (p.Arg20=) n.66C= | |
| 1 | g.40784153C>G | CA417534994 | KCNQ4 | c.60C>G (p.Arg20=) n.66C>G | gnomAD v4 |
| 1 | g.40784153C>T | CA417534996 | KCNQ4 | c.60C>T (p.Arg20=) n.66C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784154G>A | CA339884975 | KCNQ4 | c.61G>A (p.Ala21Thr) n.67G>A | gnomAD v4 |
| 1 | g.40784154G>C | CA339884976 | KCNQ4 | c.61G>C (p.Ala21Pro) n.67G>C | dbSNP |
| 1 | g.40784154G= | CA1164531103 | KCNQ4 | c.61G= (p.Ala21=) n.67G= | |
| 1 | g.40784154G>T | CA339884977 | KCNQ4 | c.61G>T (p.Ala21Ser) n.67G>T | gnomAD v4 |
| 1 | g.40784155C>A | CA339884978 | KCNQ4 | c.62C>A (p.Ala21Glu) n.68C>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784155C= | CA1164531104 | KCNQ4 | c.62C= (p.Ala21=) n.68C= | |
| 1 | g.40784155C>G | CA339884979 | KCNQ4 | c.62C>G (p.Ala21Gly) n.68C>G | gnomAD v4 |
| 1 | g.40784155C>T | CA339884980 | KCNQ4 | c.62C>T (p.Ala21Val) n.68C>T | gnomAD v4 |
| 1 | g.40784156G>A | CA417535000 | KCNQ4 | c.63G>A (p.Ala21=) n.69G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784156G>C | CA417535001 | KCNQ4 | c.63G>C (p.Ala21=) n.69G>C | gnomAD v4 |
| 1 | g.40784156G= | CA1164531105 | KCNQ4 | c.63G= (p.Ala21=) n.69G= | |
| 1 | g.40784156G>T | CA417535002 | KCNQ4 | c.63G>T (p.Ala21=) n.69G>T | gnomAD v4 |
| 1 | g.40784157G>A | CA339884981 | KCNQ4 | c.64G>A (p.Glu22Lys) n.70G>A | gnomAD v4 |
| 1 | g.40784157G>C | CA339884982 | KCNQ4 | c.64G>C (p.Glu22Gln) n.70G>C | gnomAD v4 |
| 1 | g.40784157G>T | CA339884983 | KCNQ4 | c.64G>T (p.Glu22Ter) n.70G>T | gnomAD v4 |
| 1 | g.40784158A>C | CA339884986 | KCNQ4 | c.65A>C (p.Glu22Ala) n.71A>C | ClinVar |
| 1 | g.40784158A>G | CA339884985 | KCNQ4 | c.65A>G (p.Glu22Gly) n.71A>G | dbSNP gnomAD v4 |
| 1 | g.40784158A>T | CA339884984 | KCNQ4 | c.65A>T (p.Glu22Val) n.71A>T | gnomAD v4 |
| 1 | g.40784159G>A | CA417535006 | KCNQ4 | c.66G>A (p.Glu22=) n.72G>A | gnomAD v4 |
| 1 | g.40784159G>C | CA339884987 | KCNQ4 | c.66G>C (p.Glu22Asp) n.72G>C | gnomAD v4 |
| 1 | g.40784159G>T | CA339884988 | KCNQ4 | c.66G>T (p.Glu22Asp) n.72G>T | gnomAD v4 |
| 1 | g.40784160C>A | CA339884989 | KCNQ4 | c.67C>A (p.Leu23Ile) n.73C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784160C= | CA1164531106 | KCNQ4 | c.67C= (p.Leu23=) n.73C= | |
| 1 | g.40784160C>G | CA339884990 | KCNQ4 | c.67C>G (p.Leu23Val) n.73C>G | gnomAD v4 |
| 1 | g.40784160C>T | CA417535008 | KCNQ4 | c.67C>T (p.Leu23=) n.73C>T | gnomAD v4 |
| 1 | g.40784161T>A | CA339884991 | KCNQ4 | c.68T>A (p.Leu23Gln) n.74T>A | gnomAD v4 |
| 1 | g.40784161T>C | CA339884992 | KCNQ4 | c.68T>C (p.Leu23Pro) n.74T>C | gnomAD v4 |
| 1 | g.40784161T>G | CA339884993 | KCNQ4 | c.68T>G (p.Leu23Arg) n.74T>G | |
| 1 | g.40784162A>C | CA417535009 | KCNQ4 | c.69A>C (p.Leu23=) n.75A>C | gnomAD v3 gnomAD v4 |
| 1 | g.40784162A>G | CA417535010 | KCNQ4 | c.69A>G (p.Leu23=) n.75A>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784162A>T | CA417535011 | KCNQ4 | c.69A>T (p.Leu23=) n.75A>T | gnomAD v4 |
| 1 | g.40784163G>A | CA339884994 | KCNQ4 | c.70G>A (p.Val24Met) n.76G>A | gnomAD v4 |
| 1 | g.40784163G>C | CA794442 | KCNQ4 | c.70G>C (p.Val24Leu) n.76G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784163G= | CA1164531107 | KCNQ4 | c.70G= (p.Val24=) n.76G= | |
| 1 | g.40784163G>T | CA339884995 | KCNQ4 | c.70G>T (p.Val24Leu) n.76G>T | gnomAD v4 |
| 1 | g.40784164_40784165del | CA2743310926 | KCNQ4 | c.71_72del (p.Val24GlyfsTer?) n.77_78del | |
| 1 | g.40784164T>A | CA339884996 | KCNQ4 | c.71T>A (p.Val24Glu) n.77T>A | gnomAD v4 |
| 1 | g.40784164T>C | CA21089019 | KCNQ4 | c.71T>C (p.Val24Ala) n.77T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784164T>G | CA339884997 | KCNQ4 | c.71T>G (p.Val24Gly) n.77T>G | gnomAD v4 |
| 1 | g.40784164T= | CA1164531108 | KCNQ4 | c.71T= (p.Val24=) n.77T= | |
| 1 | g.40784165G>A | CA417535017 | KCNQ4 | c.72G>A (p.Val24=) n.78G>A | gnomAD v4 |
| 1 | g.40784165G>C | CA417535018 | KCNQ4 | c.72G>C (p.Val24=) n.78G>C | gnomAD v4 |
| 1 | g.40784165G>T | CA417535019 | KCNQ4 | c.72G>T (p.Val24=) n.78G>T | gnomAD v4 |
| 1 | g.40784166del | CA2645131162 | KCNQ4 | c.73del (p.Ala25ArgfsTer?) n.79del | gnomAD v4 |
| 1 | g.40784166G>A | CA339884999 | KCNQ4 | c.73G>A (p.Ala25Thr) n.79G>A | gnomAD v4 |
| 1 | g.40784166G>C | CA339885000 | KCNQ4 | c.73G>C (p.Ala25Pro) n.79G>C | gnomAD v4 |
| 1 | g.40784166G>T | CA339884998 | KCNQ4 | c.73G>T (p.Ala25Ser) n.79G>T | gnomAD v4 |
| 1 | g.40784167C>A | CA339885001 | KCNQ4 | c.74C>A (p.Ala25Glu) n.80C>A | dbSNP gnomAD v4 |
| 1 | g.40784167C= | CA1164531109 | KCNQ4 | c.74C= (p.Ala25=) n.80C= | |
| 1 | g.40784167C>G | CA339885002 | KCNQ4 | c.74C>G (p.Ala25Gly) n.80C>G | gnomAD v4 |
| 1 | g.40784167C>T | CA339885003 | KCNQ4 | c.74C>T (p.Ala25Val) n.80C>T | gnomAD v4 |
| 1 | g.40784168G>A | CA417535026 | KCNQ4 | c.75G>A (p.Ala25=) n.81G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784168G>C | CA417535027 | KCNQ4 | c.75G>C (p.Ala25=) n.81G>C | gnomAD v4 |
| 1 | g.40784168G= | CA1164531110 | KCNQ4 | c.75G= (p.Ala25=) n.81G= | |
| 1 | g.40784168G>T | CA417535028 | KCNQ4 | c.75G>T (p.Ala25=) n.81G>T | gnomAD v4 |
| 1 | g.40784169C>A | CA339885004 | KCNQ4 | c.76C>A (p.Leu26Ile) n.82C>A | gnomAD v4 |
| 1 | g.40784169C>G | CA339885005 | KCNQ4 | c.76C>G (p.Leu26Val) n.82C>G | gnomAD v4 |
| 1 | g.40784169C>T | CA339885006 | KCNQ4 | c.76C>T (p.Leu26Phe) n.82C>T | gnomAD v4 |
| 1 | g.40784170T>A | CA339885007 | KCNQ4 | c.77T>A (p.Leu26His) n.83T>A | gnomAD v4 |
| 1 | g.40784170T>C | CA339885008 | KCNQ4 | c.77T>C (p.Leu26Pro) n.83T>C | gnomAD v4 |
| 1 | g.40784170T>G | CA339885009 | KCNQ4 | c.77T>G (p.Leu26Arg) n.83T>G | |
| 1 | g.40784171C>A | CA417535029 | KCNQ4 | c.78C>A (p.Leu26=) n.84C>A | gnomAD v4 |
| 1 | g.40784171C>G | CA417535031 | KCNQ4 | c.78C>G (p.Leu26=) n.84C>G | gnomAD v4 |
| 1 | g.40784171C>T | CA417535032 | KCNQ4 | c.78C>T (p.Leu26=) n.84C>T | gnomAD v4 |
| 1 | g.40784172A>C | CA339885010 | KCNQ4 | c.79A>C (p.Thr27Pro) n.85A>C | |
| 1 | g.40784172A>G | CA339885011 | KCNQ4 | c.79A>G (p.Thr27Ala) n.85A>G | gnomAD v4 |
| 1 | g.40784172A>T | CA339885012 | KCNQ4 | c.79A>T (p.Thr27Ser) n.85A>T | gnomAD v4 |
| 1 | g.40784173C>A | CA339885013 | KCNQ4 | c.80C>A (p.Thr27Lys) n.86C>A | gnomAD v4 |
| 1 | g.40784173C= | CA1164531111 | KCNQ4 | c.80C= (p.Thr27=) n.86C= | |
| 1 | g.40784173C>G | CA21089024 | KCNQ4 | c.80C>G (p.Thr27Arg) n.86C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784173C>T | CA339885014 | KCNQ4 | c.80C>T (p.Thr27Met) n.86C>T | gnomAD v4 |
| 1 | g.40784174G>A | CA417535035 | KCNQ4 | c.81G>A (p.Thr27=) n.87G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784174G>C | CA417535037 | KCNQ4 | c.81G>C (p.Thr27=) n.87G>C | gnomAD v4 |
| 1 | g.40784174G= | CA1164531112 | KCNQ4 | c.81G= (p.Thr27=) n.87G= | |
| 1 | g.40784174G>T | CA417535036 | KCNQ4 | c.81G>T (p.Thr27=) n.87G>T | gnomAD v4 |
| 1 | g.40784175G>A | CA339885015 | KCNQ4 | c.82G>A (p.Ala28Thr) n.88G>A | gnomAD v4 |
| 1 | g.40784175G>C | CA339885016 | KCNQ4 | c.82G>C (p.Ala28Pro) n.88G>C | gnomAD v4 |
| 1 | g.40784175G>T | CA339885017 | KCNQ4 | c.82G>T (p.Ala28Ser) n.88G>T | gnomAD v4 |
| 1 | g.40784176C>A | CA339885018 | KCNQ4 | c.83C>A (p.Ala28Asp) n.89C>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784176C= | CA1164531113 | KCNQ4 | c.83C= (p.Ala28=) n.89C= | |
| 1 | g.40784176C>G | CA339885019 | KCNQ4 | c.83C>G (p.Ala28Gly) n.89C>G | gnomAD v4 |
| 1 | g.40784176C>T | CA339885020 | KCNQ4 | c.83C>T (p.Ala28Val) n.89C>T | gnomAD v4 |
| 1 | g.40784177C>A | CA417535046 | KCNQ4 | c.84C>A (p.Ala28=) n.90C>A | gnomAD v4 |
| 1 | g.40784177C= | CA1164531114 | KCNQ4 | c.84C= (p.Ala28=) n.90C= | |
| 1 | g.40784177C>G | CA417535045 | KCNQ4 | c.84C>G (p.Ala28=) n.90C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784177C>T | CA417535041 | KCNQ4 | c.84C>T (p.Ala28=) n.90C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784178del | CA1000909535 | KCNQ4 | c.85del (p.Val29CysfsTer?) n.91del | gnomAD v3 gnomAD v4 |
| 1 | g.40784178G>A | CA339885021 | KCNQ4 | c.85G>A (p.Val29Met) n.91G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784178G>C | CA339885022 | KCNQ4 | c.85G>C (p.Val29Leu) n.91G>C | gnomAD v4 |
| 1 | g.40784178G= | CA1164531115 | KCNQ4 | c.85G= (p.Val29=) n.91G= | |
| 1 | g.40784178G>T | CA339885023 | KCNQ4 | c.85G>T (p.Val29Leu) n.91G>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784179T>A | CA339885026 | KCNQ4 | c.86T>A (p.Val29Glu) n.92T>A | gnomAD v4 |
| 1 | g.40784179T>C | CA339885025 | KCNQ4 | c.86T>C (p.Val29Ala) n.92T>C | gnomAD v4 |
| 1 | g.40784179T>G | CA339885024 | KCNQ4 | c.86T>G (p.Val29Gly) n.92T>G | |
| 1 | g.40784180G>A | CA417535051 | KCNQ4 | c.87G>A (p.Val29=) n.93G>A | gnomAD v4 |
| 1 | g.40784180G>C | CA417535053 | KCNQ4 | c.87G>C (p.Val29=) n.93G>C | gnomAD v4 |
| 1 | g.40784180G>T | CA417535052 | KCNQ4 | c.87G>T (p.Val29=) n.93G>T | gnomAD v4 |
| 1 | g.40784181del | CA2574332604 | KCNQ4 | c.88del (p.Gln30ArgfsTer?) n.94del | |
| 1 | g.40784181C>A | CA339885027 | KCNQ4 | c.88C>A (p.Gln30Lys) n.94C>A | gnomAD v4 |
| 1 | g.40784181C>G | CA339885029 | KCNQ4 | c.88C>G (p.Gln30Glu) n.94C>G | gnomAD v4 |
| 1 | g.40784181C>T | CA339885028 | KCNQ4 | c.88C>T (p.Gln30Ter) n.94C>T | gnomAD v4 |
| 1 | g.40784182A= | CA1164531116 | KCNQ4 | c.89A= (p.Gln30=) n.95A= | |
| 1 | g.40784182A>C | CA339885030 | KCNQ4 | c.89A>C (p.Gln30Pro) n.95A>C | gnomAD v4 |
| 1 | g.40784182A>G | CA339885031 | KCNQ4 | c.89A>G (p.Gln30Arg) n.95A>G | dbSNP gnomAD v4 |
| 1 | g.40784182A>T | CA339885032 | KCNQ4 | c.89A>T (p.Gln30Leu) n.95A>T | gnomAD v4 |
| 1 | g.40784183G>A | CA21089029 | KCNQ4 | c.90G>A (p.Gln30=) n.96G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784183G>C | CA339885033 | KCNQ4 | c.90G>C (p.Gln30His) n.96G>C | gnomAD v4 |
| 1 | g.40784183G= | CA1164531117 | KCNQ4 | c.90G= (p.Gln30=) n.96G= | |
| 1 | g.40784183G>T | CA339885034 | KCNQ4 | c.90G>T (p.Gln30His) n.96G>T | gnomAD v4 |
| 1 | g.40784184A= | CA1164531118 | KCNQ4 | c.91A= (p.Ser31=) n.97A= | |
| 1 | g.40784184A>C | CA339885035 | KCNQ4 | c.91A>C (p.Ser31Arg) n.97A>C | |
| 1 | g.40784184A>G | CA339885036 | KCNQ4 | c.91A>G (p.Ser31Gly) n.97A>G | dbSNP gnomAD v4 |
| 1 | g.40784184A>T | CA339885037 | KCNQ4 | c.91A>T (p.Ser31Cys) n.97A>T | gnomAD v4 |
| 1 | g.40784185G>A | CA339885038 | KCNQ4 | c.92G>A (p.Ser31Asn) n.98G>A | gnomAD v4 |
| 1 | g.40784185G>C | CA21089030 | KCNQ4 | c.92G>C (p.Ser31Thr) n.98G>C | dbSNP gnomAD v4 |
| 1 | g.40784185G= | CA1164531119 | KCNQ4 | c.92G= (p.Ser31=) n.98G= | |
| 1 | g.40784185G>T | CA339885039 | KCNQ4 | c.92G>T (p.Ser31Ile) n.98G>T | gnomAD v4 |
| 1 | g.40784186C>A | CA339885041 | KCNQ4 | c.93C>A (p.Ser31Arg) n.99C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784186C= | CA1164531120 | KCNQ4 | c.93C= (p.Ser31=) n.99C= | |
| 1 | g.40784186C>G | CA339885040 | KCNQ4 | c.93C>G (p.Ser31Arg) n.99C>G | gnomAD v4 |
| 1 | g.40784186C>T | CA417535058 | KCNQ4 | c.93C>T (p.Ser31=) n.99C>T | gnomAD v4 |
| 1 | g.40784187G>A | CA339885042 | KCNQ4 | c.94G>A (p.Glu32Lys) n.100G>A | gnomAD v4 |
| 1 | g.40784187G>C | CA339885043 | KCNQ4 | c.94G>C (p.Glu32Gln) n.100G>C | gnomAD v4 |
| 1 | g.40784187G>T | CA339885044 | KCNQ4 | c.94G>T (p.Glu32Ter) n.100G>T | gnomAD v4 |
| 1 | g.40784188A>C | CA339885045 | KCNQ4 | c.95A>C (p.Glu32Ala) n.101A>C | gnomAD v4 |
| 1 | g.40784188A>G | CA339885046 | KCNQ4 | c.95A>G (p.Glu32Gly) n.101A>G | gnomAD v4 |
| 1 | g.40784188A>T | CA339885047 | KCNQ4 | c.95A>T (p.Glu32Val) n.101A>T | gnomAD v4 |
| 1 | g.40784189A>C | CA339885048 | KCNQ4 | c.96A>C (p.Glu32Asp) n.102A>C | gnomAD v4 |
| 1 | g.40784189A>G | CA417535062 | KCNQ4 | c.96A>G (p.Glu32=) n.102A>G | gnomAD v4 |
| 1 | g.40784189A>T | CA339885049 | KCNQ4 | c.96A>T (p.Glu32Asp) n.102A>T | gnomAD v4 |
| 1 | g.40784190_40784191del | CA2645131284 | KCNQ4 | c.97_98del (p.Gln33GlyfsTer?) n.103_104del | gnomAD v4 |
| 1 | g.40784190del | CA2645131287 | KCNQ4 | c.97del (p.Gln33ArgfsTer?) n.103del | gnomAD v4 |
| 1 | g.40784190C>A | CA339885050 | KCNQ4 | c.97C>A (p.Gln33Lys) n.103C>A | gnomAD v4 |
| 1 | g.40784190C= | CA1164531121 | KCNQ4 | c.97C= (p.Gln33=) n.103C= | |
| 1 | g.40784190C>G | CA339885051 | KCNQ4 | c.97C>G (p.Gln33Glu) n.103C>G | dbSNP gnomAD v4 |
| 1 | g.40784190C>T | CA339885052 | KCNQ4 | c.97C>T (p.Gln33Ter) n.103C>T | gnomAD v4 |
| 1 | g.40784191A>C | CA339885054 | KCNQ4 | c.98A>C (p.Gln33Pro) n.104A>C | gnomAD v4 |
| 1 | g.40784191A>G | CA339885055 | KCNQ4 | c.98A>G (p.Gln33Arg) n.104A>G | gnomAD v4 |
| 1 | g.40784191A>T | CA339885053 | KCNQ4 | c.98A>T (p.Gln33Leu) n.104A>T | gnomAD v4 |
| 1 | g.40784192G>A | CA417535069 | KCNQ4 | c.99G>A (p.Gln33=) n.105G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784192G>C | CA339885056 | KCNQ4 | c.99G>C (p.Gln33His) n.105G>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784192G= | CA1164531122 | KCNQ4 | c.99G= (p.Gln33=) n.105G= | |
| 1 | g.40784192G>T | CA339885057 | KCNQ4 | c.99G>T (p.Gln33His) n.105G>T | gnomAD v4 |
| 1 | g.40784194_40784203del | CA2574332623 | KCNQ4 | c.101_110del (p.Gly34AlafsTer?) n.107_116del | |
| 1 | g.40784197_40784205del | CA2645131292 | KCNQ4 | c.104_112del (p.Glu35_Gly37del) n.110_118del | gnomAD v4 |
| 1 | g.40784193G>A | CA339885058 | KCNQ4 | c.100G>A (p.Gly34Ser) n.106G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784193G>C | CA339885059 | KCNQ4 | c.100G>C (p.Gly34Arg) n.106G>C | |
| 1 | g.40784193G= | CA1164531123 | KCNQ4 | c.100G= (p.Gly34=) n.106G= | |
| 1 | g.40784193G>T | CA339885060 | KCNQ4 | c.100G>T (p.Gly34Cys) n.106G>T | gnomAD v4 |
| 1 | g.40784197_40784201dup | CA2561345397 | KCNQ4 | c.104_108dup (p.Gly37ArgfsTer?) n.110_114dup | |
| 1 | g.40784194G>A | CA339885061 | KCNQ4 | c.101G>A (p.Gly34Asp) n.107G>A | gnomAD v4 |
| 1 | g.40784194G>C | CA339885062 | KCNQ4 | c.101G>C (p.Gly34Ala) n.107G>C | gnomAD v4 |
| 1 | g.40784194G>T | CA339885063 | KCNQ4 | c.101G>T (p.Gly34Val) n.107G>T | gnomAD v4 |
| 1 | g.40784195C>A | CA417535075 | KCNQ4 | c.102C>A (p.Gly34=) n.108C>A | gnomAD v4 |
| 1 | g.40784195C>G | CA417535077 | KCNQ4 | c.102C>G (p.Gly34=) n.108C>G | gnomAD v4 |
| 1 | g.40784195C>T | CA417535076 | KCNQ4 | c.102C>T (p.Gly34=) n.108C>T | gnomAD v4 |
| 1 | g.40784196G>A | CA339885064 | KCNQ4 | c.103G>A (p.Glu35Lys) n.109G>A | gnomAD v4 |
| 1 | g.40784196G>C | CA339885065 | KCNQ4 | c.103G>C (p.Glu35Gln) n.109G>C | |
| 1 | g.40784196G>T | CA339885066 | KCNQ4 | c.103G>T (p.Glu35Ter) n.109G>T | gnomAD v4 |
| 1 | g.40784197del | CA2743310927 | KCNQ4 | c.104del (p.Glu35GlyfsTer?) n.110del | |
| 1 | g.40784197A>C | CA339885068 | KCNQ4 | c.104A>C (p.Glu35Ala) n.110A>C | |
| 1 | g.40784197A>G | CA339885069 | KCNQ4 | c.104A>G (p.Glu35Gly) n.110A>G | gnomAD v4 |
| 1 | g.40784197A>T | CA339885067 | KCNQ4 | c.104A>T (p.Glu35Val) n.110A>T | gnomAD v4 |
| 1 | g.40784198G>A | CA417535078 | KCNQ4 | c.105G>A (p.Glu35=) n.111G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784198G>C | CA339885070 | KCNQ4 | c.105G>C (p.Glu35Asp) n.111G>C | |
| 1 | g.40784198G= | CA1164531124 | KCNQ4 | c.105G= (p.Glu35=) n.111G= | |
| 1 | g.40784198G>T | CA339885071 | KCNQ4 | c.105G>T (p.Glu35Asp) n.111G>T | gnomAD v3 gnomAD v4 |
| 1 | g.40784204_40784207del | CA2645131306 | KCNQ4 | c.111_114del (p.Gly38AlafsTer?) n.117_120del | gnomAD v4 |
| 1 | g.40784203_40784212del | CA2645131308 | KCNQ4 | c.110_119del (p.Gly37AlafsTer?) n.116_125del | gnomAD v4 |
| 1 | g.40784199G>A | CA339885072 | KCNQ4 | c.106G>A (p.Ala36Thr) n.112G>A | gnomAD v4 |
| 1 | g.40784199G>C | CA339885073 | KCNQ4 | c.106G>C (p.Ala36Pro) n.112G>C | |
| 1 | g.40784199G= | CA1164531125 | KCNQ4 | c.106G= (p.Ala36=) n.112G= | |
| 1 | g.40784199G>T | CA339885074 | KCNQ4 | c.106G>T (p.Ala36Ser) n.112G>T | dbSNP gnomAD v4 |
| 1 | g.40784200C>A | CA339885077 | KCNQ4 | c.107C>A (p.Ala36Glu) n.113C>A | gnomAD v4 |
| 1 | g.40784200C= | CA1164531126 | KCNQ4 | c.107C= (p.Ala36=) n.113C= | |
| 1 | g.40784200C>G | CA339885075 | KCNQ4 | c.107C>G (p.Ala36Gly) n.113C>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784200C>T | CA339885076 | KCNQ4 | c.107C>T (p.Ala36Val) n.113C>T | gnomAD v4 |
| 1 | g.40784201G>A | CA417535093 | KCNQ4 | c.108G>A (p.Ala36=) n.114G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784201G>C | CA417535089 | KCNQ4 | c.108G>C (p.Ala36=) n.114G>C | |
| 1 | g.40784201G= | CA1164531127 | KCNQ4 | c.108G= (p.Ala36=) n.114G= | |
| 1 | g.40784201G>T | CA417535090 | KCNQ4 | c.108G>T (p.Ala36=) n.114G>T | gnomAD v4 |
| 1 | g.40784203dup | CA735772540 | KCNQ4 | c.110dup (p.Gly38ArgfsTer?) n.116dup | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784203del | CA2645131320 | KCNQ4 | c.110del (p.Gly37AlafsTer?) n.116del | dbSNP gnomAD v4 |
| 1 | g.40784202G>A | CA339885078 | KCNQ4 | c.109G>A (p.Gly37Ser) n.115G>A | gnomAD v4 |
| 1 | g.40784202G>C | CA339885079 | KCNQ4 | c.109G>C (p.Gly37Arg) n.115G>C | gnomAD v4 |
| 1 | g.40784202G>T | CA339885080 | KCNQ4 | c.109G>T (p.Gly37Cys) n.115G>T | gnomAD v4 |
| 1 | g.40784202_40784203insC | CA1000909552 | KCNQ4 | c.109_110insC (p.Gly37AlafsTer?) n.115_116insC | gnomAD v3 gnomAD v4 |
| 1 | g.40784203G>A | CA21089031 | KCNQ4 | c.110G>A (p.Gly37Asp) n.116G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784203G>C | CA339885081 | KCNQ4 | c.110G>C (p.Gly37Ala) n.116G>C | gnomAD v4 |
| 1 | g.40784203G= | CA1164531128 | KCNQ4 | c.110G= (p.Gly37=) n.116G= | |
| 1 | g.40784203G>T | CA339885082 | KCNQ4 | c.110G>T (p.Gly37Val) n.116G>T | gnomAD v4 |
| 1 | g.40784203_40784204delinsGC | CA1164531129 | KCNQ4 | c.110_111delinsGC (p.Gly37=) n.116_117delinsGC | |
| 1 | g.40784204del | CA522803454 | KCNQ4 | c.111del (p.Gly39AlafsTer?) n.117del | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784204C>A | CA417535096 | KCNQ4 | c.111C>A (p.Gly37=) n.117C>A | dbSNP gnomAD v4 |
| 1 | g.40784204C= | CA1164531131 | KCNQ4 | c.111C= (p.Gly37=) n.117C= | |
| 1 | g.40784204C>G | CA417535097 | KCNQ4 | c.111C>G (p.Gly37=) n.117C>G | gnomAD v4 |
| 1 | g.40784204C>T | CA417535098 | KCNQ4 | c.111C>T (p.Gly37=) n.117C>T | gnomAD v3 gnomAD v4 |
| 1 | g.40784204_40784205delinsCG | CA1164531130 | KCNQ4 | c.111_112delinsCG (p.Gly37=) n.117_118delinsCG | |
| 1 | g.40784205G>A | CA339885084 | KCNQ4 | c.112G>A (p.Gly38Arg) n.118G>A | gnomAD v4 |
| 1 | g.40784205G>C | CA339885085 | KCNQ4 | c.112G>C (p.Gly38Arg) n.118G>C | |
| 1 | g.40784205G>T | CA339885083 | KCNQ4 | c.112G>T (p.Gly38Trp) n.118G>T | gnomAD v4 |
| 1 | g.40784209dup | CA417535099 | KCNQ4 | c.116dup (p.Gly40ArgfsTer?) n.122dup | gnomAD v4 |
| 1 | g.40784209del | CA522803455 | KCNQ4 | c.116del (p.Gly39AlafsTer?) n.122del | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.40784206G>A | CA339885088 | KCNQ4 | c.113G>A (p.Gly38Glu) n.119G>A | gnomAD v4 |
| 1 | g.40784206G>C | CA339885086 | KCNQ4 | c.113G>C (p.Gly38Ala) n.119G>C | gnomAD v4 |
| 1 | g.40784206G>T | CA339885087 | KCNQ4 | c.113G>T (p.Gly38Val) n.119G>T | gnomAD v4 |