| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.40783971_40784082del | CA2645130487 | KCNQ4 | c.-123_-12del (n.-123_-12del) | gnomAD v4 |
| 1 | g.40783992_40784057del | CA2645130529 | KCNQ4 | c.-102_-37del (n.-102_-37del) | gnomAD v4 |
| 1 | g.40784012_40784057del | CA2645130547 | KCNQ4 | c.-82_-37del (n.-82_-37del) | gnomAD v4 |
| 1 | g.40784035_40784077del | CA2645130565 | KCNQ4 | c.-59_-17del (n.-59_-17del) | gnomAD v4 |
| 1 | g.40784029_40784058delinsCGCCCCGAGCGCGCCCCCGCCCCGGACCGT | CA1164531021 | KCNQ4 | c.-65_-36delinsCGCCCCGAGCGCGCCCCCGCCCCGGACCGT (n.-65_-36delinsCGCCCCGAGCGCGCCCCCGCCCCGGACCGT) | |
| 1 | g.40784034_40784062del | CA735772250 | KCNQ4 | c.-60_-32del (n.-60_-32del) | dbSNP |
| 1 | g.40784036_40784070del | CA2645130566 | KCNQ4 | c.-58_-24del (n.-58_-24del) | gnomAD v4 |
| 1 | g.40784040_40784057del | CA2574332487 | KCNQ4 | c.-54_-37del (n.-54_-37del) | |
| 1 | g.40784047_40784078del | CA2645130585 | KCNQ4 | c.-47_-16del (n.-47_-16del) | gnomAD v4 |
| 1 | g.40784054_40784071dup | CA2645130614 | KCNQ4 | c.-40_-23dup (n.-40_-23dup) | gnomAD v4 |
| 1 | g.40784055C>A | CA2645130659 | KCNQ4 | c.-39C>A (n.-39C>A) | gnomAD v4 |
| 1 | g.40784055C>T | CA2645130660 | KCNQ4 | c.-39C>T (n.-39C>T) | gnomAD v4 |
| 1 | g.40784056C>A | CA21088978 | KCNQ4 | c.-38C>A (n.-38C>A) | dbSNP gnomAD v4 |
| 1 | g.40784056C= | CA1164531041 | KCNQ4 | c.-38C= (n.-38C=) | |
| 1 | g.40784056C>T | CA2645130661 | KCNQ4 | c.-38C>T (n.-38C>T) | gnomAD v4 |
| 1 | g.40784057G>A | CA2574332494 | KCNQ4 | c.-37G>A (n.-37G>A) | gnomAD v4 |
| 1 | g.40784057G>T | CA2645130662 | KCNQ4 | c.-37G>T (n.-37G>T) | gnomAD v4 |
| 1 | g.40784058T>C | CA2645130663 | KCNQ4 | c.-36T>C (n.-36T>C) | gnomAD v4 |
| 1 | g.40784058T>G | CA2551872840 | KCNQ4 | c.-36T>G (n.-36T>G) | gnomAD v4 |
| 1 | g.40784059G>A | CA1000909411 | KCNQ4 | c.-35G>A (n.-35G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784059G>C | CA2645130664 | KCNQ4 | c.-35G>C (n.-35G>C) | gnomAD v4 |
| 1 | g.40784059G= | CA1164531042 | KCNQ4 | c.-35G= (n.-35G=) | |
| 1 | g.40784059G>T | CA2645130665 | KCNQ4 | c.-35G>T (n.-35G>T) | gnomAD v4 |
| 1 | g.40784060C>A | CA2645130668 | KCNQ4 | c.-34C>A (n.-34C>A) | gnomAD v4 |
| 1 | g.40784060C>T | CA2645130669 | KCNQ4 | c.-34C>T (n.-34C>T) | gnomAD v4 |
| 1 | g.40784062dup | CA1164531043 | KCNQ4 | c.-32dup (n.-32dup) | dbSNP |
| 1 | g.40784062del | CA2645130666 | KCNQ4 | c.-32del (n.-32del) | gnomAD v4 |
| 1 | g.40784065_40784071del | CA2645130667 | KCNQ4 | c.-29_-23del (n.-29_-23del) | gnomAD v4 |
| 1 | g.40784061C>A | CA2645130670 | KCNQ4 | c.-33C>A (n.-33C>A) | gnomAD v4 |
| 1 | g.40784061C= | CA1164531044 | KCNQ4 | c.-33C= (n.-33C=) | |
| 1 | g.40784061C>G | CA735772295 | KCNQ4 | c.-33C>G (n.-33C>G) | dbSNP gnomAD v4 |
| 1 | g.40784061C>T | CA2645130671 | KCNQ4 | c.-33C>T (n.-33C>T) | gnomAD v4 |
| 1 | g.40784062C>A | CA2645130674 | KCNQ4 | c.-32C>A (n.-32C>A) | gnomAD v4 |
| 1 | g.40784062C>G | CA2645130673 | KCNQ4 | c.-32C>G (n.-32C>G) | gnomAD v4 |
| 1 | g.40784062C>T | CA2645130672 | KCNQ4 | c.-32C>T (n.-32C>T) | gnomAD v4 |
| 1 | g.40784063G>A | CA2645130675 | KCNQ4 | c.-31G>A (n.-31G>A) | gnomAD v4 |
| 1 | g.40784063G>C | CA2645130676 | KCNQ4 | c.-31G>C (n.-31G>C) | gnomAD v4 |
| 1 | g.40784063G>T | CA2645130677 | KCNQ4 | c.-31G>T (n.-31G>T) | gnomAD v4 |
| 1 | g.40784064G>A | CA1164531046 | KCNQ4 | c.-30G>A (n.-30G>A) | dbSNP gnomAD v4 |
| 1 | g.40784064G= | CA1164531045 | KCNQ4 | c.-30G= (n.-30G=) | |
| 1 | g.40784064G>T | CA2645130679 | KCNQ4 | c.-30G>T (n.-30G>T) | gnomAD v4 |
| 1 | g.40784067_40784072del | CA2645130678 | KCNQ4 | c.-27_-22del (n.-27_-22del) | gnomAD v4 |
| 1 | g.40784065G>A | CA2645130681 | KCNQ4 | c.-29G>A (n.-29G>A) | gnomAD v4 |
| 1 | g.40784065G>C | CA2645130682 | KCNQ4 | c.-29G>C (n.-29G>C) | gnomAD v4 |
| 1 | g.40784065G>T | CA2645130683 | KCNQ4 | c.-29G>T (n.-29G>T) | gnomAD v4 |
| 1 | g.40784070_40784077del | CA2645130680 | KCNQ4 | c.-24_-17del (n.-24_-17del) | gnomAD v4 |
| 1 | g.40784066C>A | CA2645130684 | KCNQ4 | c.-28C>A (n.-28C>A) | gnomAD v4 |
| 1 | g.40784066C= | CA1164531047 | KCNQ4 | c.-28C= (n.-28C=) | |
| 1 | g.40784066C>G | CA1000909417 | KCNQ4 | c.-28C>G (n.-28C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784066C>T | CA2645130688 | KCNQ4 | c.-28C>T (n.-28C>T) | gnomAD v4 |
| 1 | g.40784069del | CA2572621207 | KCNQ4 | c.-25del (n.-25del) | gnomAD v4 |
| 1 | g.40784067_40784069del | CA2574332495 | KCNQ4 | c.-27_-25del (n.-27_-25del) | |
| 1 | g.40784067C>A | CA2645130691 | KCNQ4 | c.-27C>A (n.-27C>A) | gnomAD v4 |
| 1 | g.40784067C>T | CA2645130689 | KCNQ4 | c.-27C>T (n.-27C>T) | gnomAD v4 |
| 1 | g.40784076_40784089del | CA2574332496 | KCNQ4 | c.-18_-5del (n.-18_-5del) | gnomAD v4 |
| 1 | g.40784068C>A | CA21088979 | KCNQ4 | c.-26C>A (n.-26C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784068C= | CA1164531048 | KCNQ4 | c.-26C= (n.-26C=) | |
| 1 | g.40784068C>G | CA1164531049 | KCNQ4 | c.-26C>G (n.-26C>G) | dbSNP |
| 1 | g.40784068C>T | CA2645130695 | KCNQ4 | c.-26C>T (n.-26C>T) | gnomAD v4 |
| 1 | g.40784069C>A | CA2645130697 | KCNQ4 | c.-25C>A (n.-25C>A) | gnomAD v4 |
| 1 | g.40784069C= | CA1164531050 | KCNQ4 | c.-25C= (n.-25C=) | |
| 1 | g.40784069C>G | CA2574332497 | KCNQ4 | c.-25C>G (n.-25C>G) | gnomAD v4 |
| 1 | g.40784069C>T | CA735772298 | KCNQ4 | c.-25C>T (n.-25C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784070G>A | CA735772299 | KCNQ4 | c.-24G>A (n.-24G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784070G= | CA1164531051 | KCNQ4 | c.-24G= (n.-24G=) | |
| 1 | g.40784070G>T | CA2574332499 | KCNQ4 | c.-24G>T (n.-24G>T) | gnomAD v4 |
| 1 | g.40784071G>A | CA2645130701 | KCNQ4 | c.-23G>A (n.-23G>A) | gnomAD v4 |
| 1 | g.40784071G= | CA1164531052 | KCNQ4 | c.-23G= (n.-23G=) | |
| 1 | g.40784071G>T | CA1000909423 | KCNQ4 | c.-23G>T (n.-23G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784072del | CA2645130703 | KCNQ4 | c.-22del (n.-22del) | gnomAD v4 |
| 1 | g.40784072C>A | CA735772305 | KCNQ4 | c.-22C>A (n.-22C>A) | dbSNP gnomAD v4 |
| 1 | g.40784072C= | CA1164531053 | KCNQ4 | c.-22C= (n.-22C=) | |
| 1 | g.40784072C>G | CA2645130704 | KCNQ4 | c.-22C>G (n.-22C>G) | gnomAD v4 |
| 1 | g.40784072C>T | CA2645130706 | KCNQ4 | c.-22C>T (n.-22C>T) | gnomAD v4 |
| 1 | g.40784079_40784150del | CA2743310923 | KCNQ4 | c.-15_57del | |
| 1 | g.40784073del | CA2645130714 | KCNQ4 | c.-21del (n.-21del) | gnomAD v4 |
| 1 | g.40784073G>A | CA2645130712 | KCNQ4 | c.-21G>A (n.-21G>A) | gnomAD v4 |
| 1 | g.40784073G>C | CA2645130710 | KCNQ4 | c.-21G>C (n.-21G>C) | gnomAD v4 |
| 1 | g.40784073G>T | CA2574332500 | KCNQ4 | c.-21G>T (n.-21G>T) | gnomAD v4 |
| 1 | g.40784074C>A | CA735772310 | KCNQ4 | c.-20C>A (n.-20C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784074C= | CA1164531054 | KCNQ4 | c.-20C= (n.-20C=) | |
| 1 | g.40784074C>G | CA1164531055 | KCNQ4 | c.-20C>G (n.-20C>G) | dbSNP gnomAD v4 |
| 1 | g.40784074C>T | CA735772313 | KCNQ4 | c.-20C>T (n.-20C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784078dup | CA2645130715 | KCNQ4 | c.-16dup (n.-16dup) | gnomAD v4 |
| 1 | g.40784078del | CA2574332502 | KCNQ4 | c.-16del (n.-16del) | gnomAD v4 |
| 1 | g.40784077_40784078del | CA2574332501 | KCNQ4 | c.-17_-16del (n.-17_-16del) | gnomAD v4 |
| 1 | g.40784075C>A | CA2645130722 | KCNQ4 | c.-19C>A (n.-19C>A) | gnomAD v4 |
| 1 | g.40784075C= | CA1164531056 | KCNQ4 | c.-19C= (n.-19C=) | |
| 1 | g.40784075C>G | CA2645130723 | KCNQ4 | c.-19C>G (n.-19C>G) | gnomAD v4 |
| 1 | g.40784075C>T | CA21088980 | KCNQ4 | c.-19C>T (n.-19C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784076C>A | CA2645130728 | KCNQ4 | c.-18C>A (n.-18C>A) | gnomAD v4 |
| 1 | g.40784076C>G | CA2645130730 | KCNQ4 | c.-18C>G (n.-18C>G) | gnomAD v4 |
| 1 | g.40784076C>T | CA2645130731 | KCNQ4 | c.-18C>T (n.-18C>T) | gnomAD v4 |
| 1 | g.40784080_40784094del | CA2645130727 | KCNQ4 | c.-14_1del (n.-14_1del) | gnomAD v4 |
| 1 | g.40784077C>A | CA2645130743 | KCNQ4 | c.-17C>A (n.-17C>A) | gnomAD v4 |
| 1 | g.40784077C>T | CA2645130737 | KCNQ4 | c.-17C>T (n.-17C>T) | gnomAD v4 |
| 1 | g.40784079_40784092del | CA2645130735 | KCNQ4 | c.-15_-2del (n.-15_-2del) | gnomAD v4 |
| 1 | g.40784078C>A | CA1164531058 | KCNQ4 | c.-16C>A (n.-16C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784078C= | CA1164531057 | KCNQ4 | c.-16C= (n.-16C=) | |
| 1 | g.40784078C>T | CA2645130752 | KCNQ4 | c.-16C>T (n.-16C>T) | gnomAD v4 |
| 1 | g.40784079A= | CA1164531059 | KCNQ4 | c.-15A= (n.-15A=) | |
| 1 | g.40784079A>C | CA1000909433 | KCNQ4 | c.-15A>C (n.-15A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784079A>G | CA2645130758 | KCNQ4 | c.-15A>G (n.-15A>G) | gnomAD v4 |
| 1 | g.40784079_40784080del | CA2574332503 | KCNQ4 | c.-15_-14del (n.-15_-14del) | |
| 1 | g.40784080G>A | CA2645130768 | KCNQ4 | c.-14G>A (n.-14G>A) | gnomAD v4 |
| 1 | g.40784080G>C | CA2645130771 | KCNQ4 | c.-14G>C (n.-14G>C) | gnomAD v4 |
| 1 | g.40784080G= | CA1164531060 | KCNQ4 | c.-14G= (n.-14G=) | |
| 1 | g.40784080G>T | CA10604083 | KCNQ4 | c.-14G>T (n.-14G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784086_40784140del | CA2645130766 | KCNQ4 | c.-8_47del | gnomAD v4 |
| 1 | g.40784081C>A | CA2645130783 | KCNQ4 | c.-13C>A (n.-13C>A) | gnomAD v4 |
| 1 | g.40784081C= | CA1164531061 | KCNQ4 | c.-13C= (n.-13C=) | |
| 1 | g.40784081C>G | CA1000909452 | KCNQ4 | c.-13C>G (n.-13C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784081C>T | CA2645130785 | KCNQ4 | c.-13C>T (n.-13C>T) | gnomAD v4 |
| 1 | g.40784083del | CA2645130782 | KCNQ4 | c.-11del (n.-11del) | gnomAD v4 |
| 1 | g.40784082C>A | CA2645130789 | KCNQ4 | c.-12C>A (n.-12C>A) | gnomAD v4 |
| 1 | g.40784082C>T | CA2645130793 | KCNQ4 | c.-12C>T (n.-12C>T) | gnomAD v4 |
| 1 | g.40784083C>A | CA2645130796 | KCNQ4 | c.-11C>A (n.-11C>A) | gnomAD v4 |
| 1 | g.40784083C>T | CA2645130795 | KCNQ4 | c.-11C>T (n.-11C>T) | gnomAD v4 |
| 1 | g.40784084G>A | CA1164531063 | KCNQ4 | c.-10G>A (n.-10G>A) | dbSNP gnomAD v4 |
| 1 | g.40784084G>C | CA2645130803 | KCNQ4 | c.-10G>C (n.-10G>C) | gnomAD v4 |
| 1 | g.40784084G= | CA1164531062 | KCNQ4 | c.-10G= (n.-10G=) | |
| 1 | g.40784084G>T | CA2645130805 | KCNQ4 | c.-10G>T (n.-10G>T) | gnomAD v4 |
| 1 | g.40784085del | CA2645130798 | KCNQ4 | c.-9del (n.-9del) | gnomAD v4 |
| 1 | g.40784084_40784110delinsGGCGCCGCCCATGGCCGAGGCCCCCCC | CA1164531064 | KCNQ4 | c.-10_17delinsGGCGCCGCCCATGGCCGAGGCCCCCCC | |
| 1 | g.40784085G>A | CA2645130810 | KCNQ4 | c.-9G>A (n.-9G>A) | gnomAD v4 |
| 1 | g.40784085G>T | CA2645130812 | KCNQ4 | c.-9G>T (n.-9G>T) | gnomAD v4 |
| 1 | g.40784093_40784118del | CA1000909457 | KCNQ4 | c.-1_25del | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784086C>A | CA2645130815 | KCNQ4 | c.-8C>A (n.-8C>A) | gnomAD v4 |
| 1 | g.40784086C>G | CA2645130816 | KCNQ4 | c.-8C>G (n.-8C>G) | gnomAD v4 |
| 1 | g.40784086C>T | CA2645130818 | KCNQ4 | c.-8C>T (n.-8C>T) | gnomAD v4 |
| 1 | g.40784087G>A | CA2645130821 | KCNQ4 | c.-7G>A (n.-7G>A) | gnomAD v4 |
| 1 | g.40784087G>T | CA2645130822 | KCNQ4 | c.-7G>T (n.-7G>T) | gnomAD v4 |
| 1 | g.40784088C>A | CA2645130827 | KCNQ4 | c.-6C>A (n.-6C>A) n.1C>A | gnomAD v4 |
| 1 | g.40784088C>G | CA2645130826 | KCNQ4 | c.-6C>G (n.-6C>G) n.1C>G | gnomAD v4 |
| 1 | g.40784088C>T | CA2645130824 | KCNQ4 | c.-6C>T (n.-6C>T) n.1C>T | gnomAD v4 |
| 1 | g.40784089C>A | CA2645130828 | KCNQ4 | c.-5C>A (n.-5C>A) n.2C>A | gnomAD v4 |
| 1 | g.40784089C>G | CA2645130830 | KCNQ4 | c.-5C>G (n.-5C>G) n.2C>G | gnomAD v4 |
| 1 | g.40784089C>T | CA2645130829 | KCNQ4 | c.-5C>T (n.-5C>T) n.2C>T | gnomAD v4 |
| 1 | g.40784090del | CA2645130831 | KCNQ4 | c.-4del (n.-4del) n.3del | gnomAD v4 |
| 1 | g.40784090G>A | CA2574332505 | KCNQ4 | c.-4G>A (n.-4G>A) n.3G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784090G= | CA1164531065 | KCNQ4 | c.-4G= (n.-4G=) n.3G= | |
| 1 | g.40784090G>T | CA1164531066 | KCNQ4 | c.-4G>T (n.-4G>T) n.3G>T | dbSNP gnomAD v4 |
| 1 | g.40784091C>A | CA2574332506 | KCNQ4 | c.-3C>A (n.-3C>A) n.4C>A | gnomAD v4 |
| 1 | g.40784091C>G | CA2645130850 | KCNQ4 | c.-3C>G (n.-3C>G) n.4C>G | gnomAD v4 |
| 1 | g.40784091C>T | CA2645130849 | KCNQ4 | c.-3C>T (n.-3C>T) n.4C>T | gnomAD v4 |
| 1 | g.40784093del | CA2645130848 | KCNQ4 | c.-1del (n.-1del) n.6del | gnomAD v4 |
| 1 | g.40784092C>A | CA2645130853 | KCNQ4 | c.-2C>A (n.-2C>A) n.5C>A | gnomAD v4 |
| 1 | g.40784092C= | CA1164531067 | KCNQ4 | c.-2C= (n.-2C=) n.5C= | |
| 1 | g.40784092C>T | CA522803443 | KCNQ4 | c.-2C>T (n.-2C>T) n.5C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784093C>A | CA2645130858 | KCNQ4 | c.-1C>A (n.-1C>A) n.6C>A | gnomAD v4 |
| 1 | g.40784093C>T | CA2645130860 | KCNQ4 | c.-1C>T (n.-1C>T) n.6C>T | gnomAD v4 |
| 1 | g.40784094A= | CA1164531068 | KCNQ4 | c.1A= (p.Met1=) n.7A= | |
| 1 | g.40784094A>C | CA339884702 | KCNQ4 | c.1A>C (p.Met1Leu) n.7A>C | gnomAD v3 gnomAD v4 |
| 1 | g.40784094A>G | CA339884708 | KCNQ4 | c.1A>G (p.Met1Val) n.7A>G | dbSNP gnomAD v4 |
| 1 | g.40784094A>T | CA339884705 | KCNQ4 | c.1A>T (p.Met1Leu) n.7A>T | gnomAD v4 |
| 1 | g.40784095del | CA2574332507 | KCNQ4 | c.2del (p.Met1ArgfsTer23) n.8del | gnomAD v4 |
| 1 | g.40784095T>A | CA339884718 | KCNQ4 | c.2T>A (p.Met1Lys) n.8T>A | gnomAD v4 |
| 1 | g.40784095T>C | CA339884720 | KCNQ4 | c.2T>C (p.Met1Thr) n.8T>C | gnomAD v4 |
| 1 | g.40784095T>G | CA339884724 | KCNQ4 | c.2T>G (p.Met1Arg) n.8T>G | |
| 1 | g.40784096G>A | CA339884725 | KCNQ4 | c.3G>A (p.Met1Ile) n.9G>A | gnomAD v4 |
| 1 | g.40784096G>C | CA339884729 | KCNQ4 | c.3G>C (p.Met1Ile) n.9G>C | dbSNP |
| 1 | g.40784096G>T | CA339884731 | KCNQ4 | c.3G>T (p.Met1Ile) n.9G>T | gnomAD v4 |
| 1 | g.40784097del | CA2645130875 | KCNQ4 | c.4del (p.Ala2ProfsTer22) n.10del | gnomAD v4 |
| 1 | g.40784097G>A | CA339884733 | KCNQ4 | c.4G>A (p.Ala2Thr) n.10G>A | dbSNP gnomAD v4 |
| 1 | g.40784097G>C | CA339884734 | KCNQ4 | c.4G>C (p.Ala2Pro) n.10G>C | dbSNP gnomAD v4 |
| 1 | g.40784097G= | CA1164531069 | KCNQ4 | c.4G= (p.Ala2=) n.10G= | |
| 1 | g.40784097G>T | CA339884737 | KCNQ4 | c.4G>T (p.Ala2Ser) n.10G>T | gnomAD v4 |
| 1 | g.40784098C>A | CA339884741 | KCNQ4 | c.5C>A (p.Ala2Asp) n.11C>A | gnomAD v4 |
| 1 | g.40784098C>G | CA339884745 | KCNQ4 | c.5C>G (p.Ala2Gly) n.11C>G | gnomAD v4 |
| 1 | g.40784098C>T | CA339884747 | KCNQ4 | c.5C>T (p.Ala2Val) n.11C>T | gnomAD v4 |
| 1 | g.40784101_40784139del | CA2645130880 | KCNQ4 | c.8_46del (p.Glu3_Pro15del) n.14_52del | gnomAD v4 |
| 1 | g.40784099C>A | CA417534728 | KCNQ4 | c.6C>A (p.Ala2=) n.12C>A | gnomAD v4 |
| 1 | g.40784099C= | CA1164531070 | KCNQ4 | c.6C= (p.Ala2=) n.12C= | |
| 1 | g.40784099C>G | CA417534729 | KCNQ4 | c.6C>G (p.Ala2=) n.12C>G | gnomAD v4 |
| 1 | g.40784099C>T | CA417534731 | KCNQ4 | c.6C>T (p.Ala2=) n.12C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784100G>A | CA339884758 | KCNQ4 | c.7G>A (p.Glu3Lys) n.13G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784100G>C | CA339884755 | KCNQ4 | c.7G>C (p.Glu3Gln) n.13G>C | |
| 1 | g.40784100G= | CA1164531071 | KCNQ4 | c.7G= (p.Glu3=) n.13G= | |
| 1 | g.40784100G>T | CA339884757 | KCNQ4 | c.7G>T (p.Glu3Ter) n.13G>T | gnomAD v4 |
| 1 | g.40784102_40784143del | CA2645130892 | KCNQ4 | c.9_50del (p.Glu3_Gly16del) n.15_56del | gnomAD v4 |
| 1 | g.40784101A>C | CA339884759 | KCNQ4 | c.8A>C (p.Glu3Ala) n.14A>C | |
| 1 | g.40784101A>G | CA339884760 | KCNQ4 | c.8A>G (p.Glu3Gly) n.14A>G | gnomAD v4 |
| 1 | g.40784101A>T | CA339884761 | KCNQ4 | c.8A>T (p.Glu3Val) n.14A>T | gnomAD v4 |
| 1 | g.40784102G>A | CA417534732 | KCNQ4 | c.9G>A (p.Glu3=) n.15G>A | gnomAD v4 |
| 1 | g.40784102G>C | CA339884763 | KCNQ4 | c.9G>C (p.Glu3Asp) n.15G>C | gnomAD v4 |
| 1 | g.40784102G>T | CA339884766 | KCNQ4 | c.9G>T (p.Glu3Asp) n.15G>T | gnomAD v4 |
| 1 | g.40784103del | CA2645130898 | KCNQ4 | c.10del (p.Ala4ProfsTer20) n.16del | gnomAD v4 |
| 1 | g.40784103G>A | CA339884773 | KCNQ4 | c.10G>A (p.Ala4Thr) n.16G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784103G>C | CA339884772 | KCNQ4 | c.10G>C (p.Ala4Pro) n.16G>C | gnomAD v4 |
| 1 | g.40784103G= | CA1164531072 | KCNQ4 | c.10G= (p.Ala4=) n.16G= | |
| 1 | g.40784103G>T | CA339884771 | KCNQ4 | c.10G>T (p.Ala4Ser) n.16G>T | gnomAD v4 |
| 1 | g.40784110_40784151del | CA2645130902 | KCNQ4 | c.17_58del (p.Pro6_Pro19del) n.23_64del | gnomAD v4 |
| 1 | g.40784104C>A | CA339884774 | KCNQ4 | c.11C>A (p.Ala4Asp) n.17C>A | dbSNP gnomAD v4 |
| 1 | g.40784104C= | CA1164531074 | KCNQ4 | c.11C= (p.Ala4=) n.17C= | |
| 1 | g.40784104C>G | CA339884776 | KCNQ4 | c.11C>G (p.Ala4Gly) n.17C>G | gnomAD v4 |
| 1 | g.40784104C>T | CA339884779 | KCNQ4 | c.11C>T (p.Ala4Val) n.17C>T | 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.40784105C>A | CA417534740 | KCNQ4 | c.12C>A (p.Ala4=) n.18C>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.40784105C= | CA1164531075 | KCNQ4 | c.12C= (p.Ala4=) n.18C= | |
| 1 | g.40784105C>G | CA417534738 | KCNQ4 | c.12C>G (p.Ala4=) n.18C>G | |
| 1 | g.40784105C>T | CA417534739 | KCNQ4 | c.12C>T (p.Ala4=) n.18C>T | gnomAD v4 |
| 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 |