| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.40784274_40784286delinsCCGGGCTCCGGCT | CA1164531176 | KCNQ4 | c.181_193delinsCCGGGCTCCGGCT (p.Pro61=) n.187_199delinsCCGGGCTCCGGCT | |
| 1 | g.40784284_40784295dup | CA794448 | KCNQ4 | c.191_202dup (p.Ser67_Ala68insGlySerGlySer) n.197_208dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784284_40784295del | CA21089067 | KCNQ4 | c.191_202del (p.Gly64_Ser67del) n.197_208del | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784277G>A | CA339885221 | KCNQ4 | c.184G>A (p.Gly62Ser) n.190G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784277G>C | CA339885223 | KCNQ4 | c.184G>C (p.Gly62Arg) n.190G>C | |
| 1 | g.40784277G= | CA1164531179 | KCNQ4 | c.184G= (p.Gly62=) n.190G= | |
| 1 | g.40784277G>T | CA339885222 | KCNQ4 | c.184G>T (p.Gly62Cys) n.190G>T | |
| 1 | g.40784282_40784287dup | CA2645131397 | KCNQ4 | c.189_194dup (p.Ser65_Gly66insGlySer) n.195_200dup | gnomAD v4 |
| 1 | g.40784278G>A | CA794450 | KCNQ4 | c.185G>A (p.Gly62Asp) n.191G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784278G>C | CA339885224 | KCNQ4 | c.185G>C (p.Gly62Ala) n.191G>C | |
| 1 | g.40784278G= | CA1164531180 | KCNQ4 | c.185G= (p.Gly62=) n.191G= | |
| 1 | g.40784278G>T | CA339885225 | KCNQ4 | c.185G>T (p.Gly62Val) n.191G>T | gnomAD v4 |
| 1 | g.40784279C>A | CA417535322 | KCNQ4 | c.186C>A (p.Gly62=) n.192C>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784279C= | CA1164531181 | KCNQ4 | c.186C= (p.Gly62=) n.192C= | |
| 1 | g.40784279C>G | CA417535324 | KCNQ4 | c.186C>G (p.Gly62=) n.192C>G | |
| 1 | g.40784279C>T | CA417535327 | KCNQ4 | c.186C>T (p.Gly62=) n.192C>T | |
| 1 | g.40784280T>A | CA339885226 | KCNQ4 | c.187T>A (p.Ser63Thr) n.193T>A | |
| 1 | g.40784280T>C | CA794451 | KCNQ4 | c.187T>C (p.Ser63Pro) n.193T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784280T>G | CA339885227 | KCNQ4 | c.187T>G (p.Ser63Ala) n.193T>G | ClinVar |
| 1 | g.40784280T= | CA1164531182 | KCNQ4 | c.187T= (p.Ser63=) n.193T= | |
| 1 | g.40784281C>A | CA339885228 | KCNQ4 | c.188C>A (p.Ser63Tyr) n.194C>A | |
| 1 | g.40784281C>G | CA339885229 | KCNQ4 | c.188C>G (p.Ser63Cys) n.194C>G | |
| 1 | g.40784281C>T | CA339885230 | KCNQ4 | c.188C>T (p.Ser63Phe) n.194C>T | |
| 1 | g.40784282C>A | CA417535334 | KCNQ4 | c.189C>A (p.Ser63=) n.195C>A | |
| 1 | g.40784282C= | CA1164531183 | KCNQ4 | c.189C= (p.Ser63=) n.195C= | |
| 1 | g.40784282C>G | CA794452 | KCNQ4 | c.189C>G (p.Ser63=) n.195C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40784282C>T | CA417535335 | KCNQ4 | c.189C>T (p.Ser63=) n.195C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784283G>A | CA339885232 | KCNQ4 | c.190G>A (p.Gly64Ser) n.196G>A | gnomAD v4 |
| 1 | g.40784283G>C | CA339885233 | KCNQ4 | c.190G>C (p.Gly64Arg) n.196G>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784283G= | CA1164531184 | KCNQ4 | c.190G= (p.Gly64=) n.196G= | |
| 1 | g.40784283G>T | CA339885231 | KCNQ4 | c.190G>T (p.Gly64Cys) n.196G>T | gnomAD v4 |
| 1 | g.40784284G>A | CA339885234 | KCNQ4 | c.191G>A (p.Gly64Asp) n.197G>A | gnomAD v4 |
| 1 | g.40784284G>C | CA339885235 | KCNQ4 | c.191G>C (p.Gly64Ala) n.197G>C | |
| 1 | g.40784284G>T | CA339885236 | KCNQ4 | c.191G>T (p.Gly64Val) n.197G>T | gnomAD v4 |
| 1 | g.40784285C>A | CA417535342 | KCNQ4 | c.192C>A (p.Gly64=) n.198C>A | gnomAD v4 |
| 1 | g.40784285C>G | CA417535344 | KCNQ4 | c.192C>G (p.Gly64=) n.198C>G | |
| 1 | g.40784285C>T | CA417535347 | KCNQ4 | c.192C>T (p.Gly64=) n.198C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784286T>A | CA339885237 | KCNQ4 | c.193T>A (p.Ser65Thr) n.199T>A | gnomAD v4 |
| 1 | g.40784286T>C | CA339885238 | KCNQ4 | c.193T>C (p.Ser65Pro) n.199T>C | gnomAD v4 |
| 1 | g.40784286T>G | CA339885239 | KCNQ4 | c.193T>G (p.Ser65Ala) n.199T>G | |
| 1 | g.40784287C>A | CA339885240 | KCNQ4 | c.194C>A (p.Ser65Ter) n.200C>A | dbSNP gnomAD v4 |
| 1 | g.40784287C= | CA1164531185 | KCNQ4 | c.194C= (p.Ser65=) n.200C= | |
| 1 | g.40784287C>G | CA794454 | KCNQ4 | c.194C>G (p.Ser65Trp) n.200C>G | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.40784287C>T | CA794453 | KCNQ4 | c.194C>T (p.Ser65Leu) n.200C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784288G>A | CA417535349 | KCNQ4 | c.195G>A (p.Ser65=) n.201G>A | gnomAD v3 gnomAD v4 |
| 1 | g.40784288G>C | CA21089120 | KCNQ4 | c.195G>C (p.Ser65=) n.201G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784288G= | CA1164531186 | KCNQ4 | c.195G= (p.Ser65=) n.201G= | |
| 1 | g.40784288G>T | CA794455 | KCNQ4 | c.195G>T (p.Ser65=) n.201G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784289G>A | CA339885241 | KCNQ4 | c.196G>A (p.Gly66Ser) n.202G>A | |
| 1 | g.40784289G>C | CA339885242 | KCNQ4 | c.196G>C (p.Gly66Arg) n.202G>C | |
| 1 | g.40784289G>T | CA339885243 | KCNQ4 | c.196G>T (p.Gly66Cys) n.202G>T | gnomAD v4 |
| 1 | g.40784290G>A | CA339885246 | KCNQ4 | c.197G>A (p.Gly66Asp) n.203G>A | gnomAD v4 |
| 1 | g.40784290G>C | CA339885245 | KCNQ4 | c.197G>C (p.Gly66Ala) n.203G>C | |
| 1 | g.40784290G>T | CA339885244 | KCNQ4 | c.197G>T (p.Gly66Val) n.203G>T | gnomAD v4 |
| 1 | g.40784291C>A | CA794456 | KCNQ4 | c.198C>A (p.Gly66=) n.204C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40784291C= | CA1164531187 | KCNQ4 | c.198C= (p.Gly66=) n.204C= | |
| 1 | g.40784291C>G | CA417535354 | KCNQ4 | c.198C>G (p.Gly66=) n.204C>G | |
| 1 | g.40784291C>T | CA417535353 | KCNQ4 | c.198C>T (p.Gly66=) n.204C>T | |
| 1 | g.40784292T>A | CA339885247 | KCNQ4 | c.199T>A (p.Ser67Thr) n.205T>A | |
| 1 | g.40784292T>C | CA339885248 | KCNQ4 | c.199T>C (p.Ser67Pro) n.205T>C | dbSNP |
| 1 | g.40784292T>G | CA339885249 | KCNQ4 | c.199T>G (p.Ser67Ala) n.205T>G | |
| 1 | g.40784293C>A | CA339885250 | KCNQ4 | c.200C>A (p.Ser67Tyr) n.206C>A | gnomAD v4 |
| 1 | g.40784293C>G | CA339885251 | KCNQ4 | c.200C>G (p.Ser67Cys) n.206C>G | gnomAD v4 |
| 1 | g.40784293C>T | CA339885252 | KCNQ4 | c.200C>T (p.Ser67Phe) n.206C>T | gnomAD v4 |
| 1 | g.40784294C>A | CA417535364 | KCNQ4 | c.201C>A (p.Ser67=) n.207C>A | |
| 1 | g.40784294C>G | CA417535363 | KCNQ4 | c.201C>G (p.Ser67=) n.207C>G | |
| 1 | g.40784294C>T | CA417535362 | KCNQ4 | c.201C>T (p.Ser67=) n.207C>T | gnomAD v4 |
| 1 | g.40784295G>A | CA794457 | KCNQ4 | c.202G>A (p.Ala68Thr) n.208G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40784295G>C | CA339885253 | KCNQ4 | c.202G>C (p.Ala68Pro) n.208G>C | |
| 1 | g.40784295G= | CA1164531188 | KCNQ4 | c.202G= (p.Ala68=) n.208G= | |
| 1 | g.40784295G>T | CA339885254 | KCNQ4 | c.202G>T (p.Ala68Ser) n.208G>T | gnomAD v4 |
| 1 | g.40784296C>A | CA339885255 | KCNQ4 | c.203C>A (p.Ala68Asp) n.209C>A | gnomAD v4 COSMIC |
| 1 | g.40784296C>G | CA339885256 | KCNQ4 | c.203C>G (p.Ala68Gly) n.209C>G | |
| 1 | g.40784296C>T | CA339885257 | KCNQ4 | c.203C>T (p.Ala68Val) n.209C>T | gnomAD v4 COSMIC |
| 1 | g.40784297C>A | CA417535371 | KCNQ4 | c.204C>A (p.Ala68=) n.210C>A | gnomAD v4 |
| 1 | g.40784297C= | CA1164531189 | KCNQ4 | c.204C= (p.Ala68=) n.210C= | |
| 1 | g.40784297C>G | CA417535373 | KCNQ4 | c.204C>G (p.Ala68=) n.210C>G | |
| 1 | g.40784297C>T | CA794458 | KCNQ4 | c.204C>T (p.Ala68=) n.210C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784298T>A | CA339885259 | KCNQ4 | c.205T>A (p.Cys69Ser) n.211T>A | dbSNP |
| 1 | g.40784298T>C | CA339885258 | KCNQ4 | c.205T>C (p.Cys69Arg) n.211T>C | gnomAD v4 |
| 1 | g.40784298T>G | CA339885260 | KCNQ4 | c.205T>G (p.Cys69Gly) n.211T>G | |
| 1 | g.40784298T= | CA1164531190 | KCNQ4 | c.205T= (p.Cys69=) n.211T= | |
| 1 | g.40784299G>A | CA339885261 | KCNQ4 | c.206G>A (p.Cys69Tyr) n.212G>A | |
| 1 | g.40784299G>C | CA339885262 | KCNQ4 | c.206G>C (p.Cys69Ser) n.212G>C | gnomAD v4 |
| 1 | g.40784299G>T | CA339885263 | KCNQ4 | c.206G>T (p.Cys69Phe) n.212G>T | gnomAD v4 |
| 1 | g.40784300C>A | CA339885264 | KCNQ4 | c.207C>A (p.Cys69Ter) n.213C>A | |
| 1 | g.40784300C>G | CA339885265 | KCNQ4 | c.207C>G (p.Cys69Trp) n.213C>G | |
| 1 | g.40784300C>T | CA417535377 | KCNQ4 | c.207C>T (p.Cys69=) n.213C>T | gnomAD v4 |
| 1 | g.40784301G>A | CA339885266 | KCNQ4 | c.208G>A (p.Gly70Ser) n.214G>A | ClinVar gnomAD v4 COSMIC |
| 1 | g.40784301G>C | CA339885267 | KCNQ4 | c.208G>C (p.Gly70Arg) n.214G>C | gnomAD v4 |
| 1 | g.40784301G= | CA1149117625 | KCNQ4 | c.208G= (p.Gly70=) n.214G= | |
| 1 | g.40784301G>T | CA794459 | KCNQ4 | c.208G>T (p.Gly70Cys) n.214G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40784302G>A | CA339885268 | KCNQ4 | c.209G>A (p.Gly70Asp) n.215G>A | gnomAD v4 |
| 1 | g.40784302G>C | CA339885269 | KCNQ4 | c.209G>C (p.Gly70Ala) n.215G>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784302G= | CA1164531192 | KCNQ4 | c.209G= (p.Gly70=) n.215G= | |
| 1 | g.40784302G>T | CA339885270 | KCNQ4 | c.209G>T (p.Gly70Val) n.215G>T | |
| 1 | g.40784302_40784303delinsGC | CA1164531191 | KCNQ4 | c.209_210delinsGC (p.Gly70=) n.215_216delinsGC | |
| 1 | g.40784303C>A | CA417535381 | KCNQ4 | c.210C>A (p.Gly70=) n.216C>A | gnomAD v4 |
| 1 | g.40784303C= | CA1164531193 | KCNQ4 | c.210C= (p.Gly70=) n.216C= | |
| 1 | g.40784303C>G | CA417535382 | KCNQ4 | c.210C>G (p.Gly70=) n.216C>G | dbSNP gnomAD v4 |
| 1 | g.40784303C>T | CA417535383 | KCNQ4 | c.210C>T (p.Gly70=) n.216C>T | dbSNP |
| 1 | g.40784303_40784304delinsCC | CA1141188903 | KCNQ4 | c.210_211delinsCC (p.Gly70=) n.216_217delinsCC | |
| 1 | g.40784304del | CA340539 | KCNQ4 | c.211del (p.Gln71SerfsTer?) n.217del | ClinVar dbSNP |
| 1 | g.40784303_40784316delinsCCAGCGCTCCTCGG | CA1164531194 | KCNQ4 | c.210_223delinsCCAGCGCTCCTCGG (p.Gly70=) n.216_229delinsCCAGCGCTCCTCGG | |
| 1 | g.40784304C>A | CA339885273 | KCNQ4 | c.211C>A (p.Gln71Lys) n.217C>A | |
| 1 | g.40784304C>G | CA339885272 | KCNQ4 | c.211C>G (p.Gln71Glu) n.217C>G | |
| 1 | g.40784304C>T | CA339885271 | KCNQ4 | c.211C>T (p.Gln71Ter) n.217C>T | |
| 1 | g.40784304_40784317delinsCAGCGCTCCTCGGC | CA1141188915 | KCNQ4 | c.211_224delinsCAGCGCTCCTCGGC (p.Gln71=) n.217_230delinsCAGCGCTCCTCGGC | |
| 1 | g.40784305_40784317del | CA340536 | KCNQ4 | c.212_224del (p.Gln71ProfsTer?) n.218_230del | ClinVar dbSNP |
| 1 | g.40784305A= | CA1164531195 | KCNQ4 | c.212A= (p.Gln71=) n.218A= | |
| 1 | g.40784305A>C | CA339885274 | KCNQ4 | c.212A>C (p.Gln71Pro) n.218A>C | |
| 1 | g.40784305A>G | CA794460 | KCNQ4 | c.212A>G (p.Gln71Arg) n.218A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40784305A>T | CA339885275 | KCNQ4 | c.212A>T (p.Gln71Leu) n.218A>T | |
| 1 | g.40784306G>A | CA417535389 | KCNQ4 | c.213G>A (p.Gln71=) n.219G>A | gnomAD v4 |
| 1 | g.40784306G>C | CA339885276 | KCNQ4 | c.213G>C (p.Gln71His) n.219G>C | |
| 1 | g.40784306G>T | CA339885277 | KCNQ4 | c.213G>T (p.Gln71His) n.219G>T | gnomAD v4 |
| 1 | g.40784307C>A | CA794461 | KCNQ4 | c.214C>A (p.Arg72Ser) n.220C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40784307C= | CA1164531196 | KCNQ4 | c.214C= (p.Arg72=) n.220C= | |
| 1 | g.40784307C>G | CA339885278 | KCNQ4 | c.214C>G (p.Arg72Gly) n.220C>G | gnomAD v4 |
| 1 | g.40784307C>T | CA339885279 | KCNQ4 | c.214C>T (p.Arg72Cys) n.220C>T | gnomAD v4 |
| 1 | g.40784308G>A | CA339885280 | KCNQ4 | c.215G>A (p.Arg72His) n.221G>A | gnomAD v4 |
| 1 | g.40784308G>C | CA339885281 | KCNQ4 | c.215G>C (p.Arg72Pro) n.221G>C | |
| 1 | g.40784308G>T | CA339885282 | KCNQ4 | c.215G>T (p.Arg72Leu) n.221G>T | gnomAD v4 |
| 1 | g.40784309C>A | CA417535393 | KCNQ4 | c.216C>A (p.Arg72=) n.222C>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784309C= | CA1164531197 | KCNQ4 | c.216C= (p.Arg72=) n.222C= | |
| 1 | g.40784309C>G | CA21089165 | KCNQ4 | c.216C>G (p.Arg72=) n.222C>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784309C>T | CA417535394 | KCNQ4 | c.216C>T (p.Arg72=) n.222C>T | |
| 1 | g.40784310T>A | CA339885285 | KCNQ4 | c.217T>A (p.Ser73Thr) n.223T>A | |
| 1 | g.40784310T>C | CA339885284 | KCNQ4 | c.217T>C (p.Ser73Pro) n.223T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784310T>G | CA339885283 | KCNQ4 | c.217T>G (p.Ser73Ala) n.223T>G | |
| 1 | g.40784310T= | CA1164531198 | KCNQ4 | c.217T= (p.Ser73=) n.223T= | |
| 1 | g.40784311C>A | CA339885286 | KCNQ4 | c.218C>A (p.Ser73Tyr) n.224C>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784311C= | CA1164531199 | KCNQ4 | c.218C= (p.Ser73=) n.224C= | |
| 1 | g.40784311C>G | CA339885287 | KCNQ4 | c.218C>G (p.Ser73Cys) n.224C>G | |
| 1 | g.40784311C>T | CA339885288 | KCNQ4 | c.218C>T (p.Ser73Phe) n.224C>T | dbSNP |
| 1 | g.40784312C>A | CA417535398 | KCNQ4 | c.219C>A (p.Ser73=) n.225C>A | |
| 1 | g.40784312C>G | CA417535396 | KCNQ4 | c.219C>G (p.Ser73=) n.225C>G | |
| 1 | g.40784312C>T | CA417535395 | KCNQ4 | c.219C>T (p.Ser73=) n.225C>T | gnomAD v4 |
| 1 | g.40784313T>A | CA339885289 | KCNQ4 | c.220T>A (p.Ser74Thr) n.226T>A | |
| 1 | g.40784313T>C | CA339885290 | KCNQ4 | c.220T>C (p.Ser74Pro) n.226T>C | |
| 1 | g.40784313T>G | CA339885291 | KCNQ4 | c.220T>G (p.Ser74Ala) n.226T>G | |
| 1 | g.40784314C>A | CA339885292 | KCNQ4 | c.221C>A (p.Ser74Ter) n.227C>A | gnomAD v4 |
| 1 | g.40784314C= | CA1148248143 | KCNQ4 | c.221C= (p.Ser74=) n.227C= | |
| 1 | g.40784314C>G | CA339885293 | KCNQ4 | c.221C>G (p.Ser74Trp) n.227C>G | |
| 1 | g.40784314C>T | CA794462 | KCNQ4 | c.221C>T (p.Ser74Leu) n.227C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784315G>A | CA794463 | KCNQ4 | c.222G>A (p.Ser74=) n.228G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784315G>C | CA417535399 | KCNQ4 | c.222G>C (p.Ser74=) n.228G>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784315G= | CA1143388360 | KCNQ4 | c.222G= (p.Ser74=) n.228G= | |
| 1 | g.40784315G>T | CA417535400 | KCNQ4 | c.222G>T (p.Ser74=) n.228G>T | gnomAD v4 |
| 1 | g.40784316G>A | CA794464 | KCNQ4 | c.223G>A (p.Ala75Thr) n.229G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784316G>C | CA339885294 | KCNQ4 | c.223G>C (p.Ala75Pro) n.229G>C | gnomAD v4 |
| 1 | g.40784316G= | CA1164531200 | KCNQ4 | c.223G= (p.Ala75=) n.229G= | |
| 1 | g.40784316G>T | CA339885295 | KCNQ4 | c.223G>T (p.Ala75Ser) n.229G>T | gnomAD v4 |
| 1 | g.40784317C>A | CA339885298 | KCNQ4 | c.224C>A (p.Ala75Asp) n.230C>A | |
| 1 | g.40784317C= | CA1164531201 | KCNQ4 | c.224C= (p.Ala75=) n.230C= | |
| 1 | g.40784317C>G | CA339885296 | KCNQ4 | c.224C>G (p.Ala75Gly) n.230C>G | |
| 1 | g.40784317C>T | CA339885297 | KCNQ4 | c.224C>T (p.Ala75Val) n.230C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784318C>A | CA417535406 | KCNQ4 | c.225C>A (p.Ala75=) n.231C>A | dbSNP gnomAD v4 |
| 1 | g.40784318C= | CA1164531202 | KCNQ4 | c.225C= (p.Ala75=) n.231C= | |
| 1 | g.40784318C>G | CA417535405 | KCNQ4 | c.225C>G (p.Ala75=) n.231C>G | gnomAD v4 |
| 1 | g.40784318C>T | CA417535404 | KCNQ4 | c.225C>T (p.Ala75=) n.231C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784321_40784322dup | CA347456 | KCNQ4 | c.228_229dup (p.His77ArgfsTer?) n.234_235dup | ClinVar dbSNP |
| 1 | g.40784319G>A | CA339885299 | KCNQ4 | c.226G>A (p.Ala76Thr) n.232G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784319G>C | CA339885300 | KCNQ4 | c.226G>C (p.Ala76Pro) n.232G>C | |
| 1 | g.40784319G= | CA1164531203 | KCNQ4 | c.226G= (p.Ala76=) n.232G= | |
| 1 | g.40784319G>T | CA339885301 | KCNQ4 | c.226G>T (p.Ala76Ser) n.232G>T | gnomAD v4 |
| 1 | g.40784320C>A | CA339885302 | KCNQ4 | c.227C>A (p.Ala76Glu) n.233C>A | |
| 1 | g.40784320C= | CA1164531204 | KCNQ4 | c.227C= (p.Ala76=) n.233C= | |
| 1 | g.40784320C>G | CA339885303 | KCNQ4 | c.227C>G (p.Ala76Gly) n.233C>G | dbSNP gnomAD v4 |
| 1 | g.40784320C>T | CA339885304 | KCNQ4 | c.227C>T (p.Ala76Val) n.233C>T | gnomAD v4 |
| 1 | g.40784321G>A | CA417535411 | KCNQ4 | c.228G>A (p.Ala76=) n.234G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.40784321G>C | CA417535412 | KCNQ4 | c.228G>C (p.Ala76=) n.234G>C | |
| 1 | g.40784321G= | CA1164531205 | KCNQ4 | c.228G= (p.Ala76=) n.234G= | |
| 1 | g.40784321G>T | CA417535413 | KCNQ4 | c.228G>T (p.Ala76=) n.234G>T | gnomAD v4 |
| 1 | g.40784322C>A | CA339885305 | KCNQ4 | c.229C>A (p.His77Asn) n.235C>A | |
| 1 | g.40784322C= | CA1164531206 | KCNQ4 | c.229C= (p.His77=) n.235C= | |
| 1 | g.40784322C>G | CA339885306 | KCNQ4 | c.229C>G (p.His77Asp) n.235C>G | |
| 1 | g.40784322C>T | CA339885307 | KCNQ4 | c.229C>T (p.His77Tyr) n.235C>T | |
| 1 | g.40784322_40784323insT | CA794465 | KCNQ4 | c.229_230insT (p.His77LeufsTer?) n.235_236insT | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40784323A= | CA1164531207 | KCNQ4 | c.230A= (p.His77=) n.236A= | |
| 1 | g.40784323A>C | CA339885310 | KCNQ4 | c.230A>C (p.His77Pro) n.236A>C | |
| 1 | g.40784323A>G | CA339885309 | KCNQ4 | c.230A>G (p.His77Arg) n.236A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784323A>T | CA339885308 | KCNQ4 | c.230A>T (p.His77Leu) n.236A>T | |
| 1 | g.40784324C>A | CA339885312 | KCNQ4 | c.231C>A (p.His77Gln) n.237C>A | ClinVar |
| 1 | g.40784324C>G | CA339885311 | KCNQ4 | c.231C>G (p.His77Gln) n.237C>G | |
| 1 | g.40784324C>T | CA417535418 | KCNQ4 | c.231C>T (p.His77=) n.237C>T | |
| 1 | g.40784325A= | CA1164531208 | KCNQ4 | c.232A= (p.Lys78=) n.238A= | |
| 1 | g.40784325A>C | CA339885315 | KCNQ4 | c.232A>C (p.Lys78Gln) n.238A>C | dbSNP gnomAD v4 |
| 1 | g.40784325A>G | CA339885313 | KCNQ4 | c.232A>G (p.Lys78Glu) n.238A>G | |
| 1 | g.40784325A>T | CA339885314 | KCNQ4 | c.232A>T (p.Lys78Ter) n.238A>T | ClinVar gnomAD v4 |
| 1 | g.40784326A= | CA1164531209 | KCNQ4 | c.233A= (p.Lys78=) n.239A= | |
| 1 | g.40784326A>C | CA339885316 | KCNQ4 | c.233A>C (p.Lys78Thr) n.239A>C | |
| 1 | g.40784326A>G | CA339885317 | KCNQ4 | c.233A>G (p.Lys78Arg) n.239A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784326A>T | CA339885318 | KCNQ4 | c.233A>T (p.Lys78Met) n.239A>T | |
| 1 | g.40784327G>A | CA417535422 | KCNQ4 | c.234G>A (p.Lys78=) n.240G>A | dbSNP |
| 1 | g.40784327G>C | CA339885319 | KCNQ4 | c.234G>C (p.Lys78Asn) n.240G>C | |
| 1 | g.40784327G= | CA1164531210 | KCNQ4 | c.234G= (p.Lys78=) n.240G= | |
| 1 | g.40784327G>T | CA339885320 | KCNQ4 | c.234G>T (p.Lys78Asn) n.240G>T | |
| 1 | g.40784328C>A | CA339885321 | KCNQ4 | c.235C>A (p.Arg79Ser) n.241C>A | gnomAD v4 |
| 1 | g.40784328C= | CA1164531211 | KCNQ4 | c.235C= (p.Arg79=) n.241C= | |
| 1 | g.40784328C>G | CA339885322 | KCNQ4 | c.235C>G (p.Arg79Gly) n.241C>G | |
| 1 | g.40784328C>T | CA339885323 | KCNQ4 | c.235C>T (p.Arg79Cys) n.241C>T | dbSNP gnomAD v2 |
| 1 | g.40784329G>A | CA339885326 | KCNQ4 | c.236G>A (p.Arg79His) n.242G>A | |
| 1 | g.40784329G>C | CA339885325 | KCNQ4 | c.236G>C (p.Arg79Pro) n.242G>C | |
| 1 | g.40784329G>T | CA339885324 | KCNQ4 | c.236G>T (p.Arg79Leu) n.242G>T | |
| 1 | g.40784330C>A | CA417535427 | KCNQ4 | c.237C>A (p.Arg79=) n.243C>A | |
| 1 | g.40784330C>G | CA417535428 | KCNQ4 | c.237C>G (p.Arg79=) n.243C>G | |
| 1 | g.40784330C>T | CA417535429 | KCNQ4 | c.237C>T (p.Arg79=) n.243C>T | gnomAD v4 |
| 1 | g.40784331T>A | CA339885327 | KCNQ4 | c.238T>A (p.Tyr80Asn) n.244T>A | |
| 1 | g.40784331T>C | CA339885328 | KCNQ4 | c.238T>C (p.Tyr80His) n.244T>C | gnomAD v4 |
| 1 | g.40784331T>G | CA339885329 | KCNQ4 | c.238T>G (p.Tyr80Asp) n.244T>G | |
| 1 | g.40784332A= | CA1164531212 | KCNQ4 | c.239A= (p.Tyr80=) n.245A= | |
| 1 | g.40784332A>C | CA339885330 | KCNQ4 | c.239A>C (p.Tyr80Ser) n.245A>C | dbSNP |
| 1 | g.40784332A>G | CA339885331 | KCNQ4 | c.239A>G (p.Tyr80Cys) n.245A>G | gnomAD v2 |
| 1 | g.40784332A>T | CA339885332 | KCNQ4 | c.239A>T (p.Tyr80Phe) n.245A>T | |
| 1 | g.40784333C>A | CA339885333 | KCNQ4 | c.240C>A (p.Tyr80Ter) n.246C>A | |
| 1 | g.40784333C>G | CA339885334 | KCNQ4 | c.240C>G (p.Tyr80Ter) n.246C>G | |
| 1 | g.40784333C>T | CA417535434 | KCNQ4 | c.240C>T (p.Tyr80=) n.246C>T | |
| 1 | g.40784338_40784340dup | CA794466 | KCNQ4 | c.245_247dup (p.Arg82_Leu83insArg) n.251_253dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784334C>A | CA339885335 | KCNQ4 | c.241C>A (p.Arg81Ser) n.247C>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.40784334C= | CA1164531213 | KCNQ4 | c.241C= (p.Arg81=) n.247C= | |
| 1 | g.40784334C>G | CA339885336 | KCNQ4 | c.241C>G (p.Arg81Gly) n.247C>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784334C>T | CA794467 | KCNQ4 | c.241C>T (p.Arg81Cys) n.247C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40784335G>A | CA794468 | KCNQ4 | c.242G>A (p.Arg81His) n.248G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40784335G>C | CA339885338 | KCNQ4 | c.242G>C (p.Arg81Pro) n.248G>C | dbSNP |
| 1 | g.40784335G= | CA1164531214 | KCNQ4 | c.242G= (p.Arg81=) n.248G= | |
| 1 | g.40784335G>T | CA339885337 | KCNQ4 | c.242G>T (p.Arg81Leu) n.248G>T | gnomAD v4 |
| 1 | g.40784336C>A | CA417535437 | KCNQ4 | c.243C>A (p.Arg81=) n.249C>A | gnomAD v4 |
| 1 | g.40784336C= | CA1164531215 | KCNQ4 | c.243C= (p.Arg81=) n.249C= | |
| 1 | g.40784336C>G | CA417535438 | KCNQ4 | c.243C>G (p.Arg81=) n.249C>G | gnomAD v4 |
| 1 | g.40784336C>T | CA417535439 | KCNQ4 | c.243C>T (p.Arg81=) n.249C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784337C>A | CA339885339 | KCNQ4 | c.244C>A (p.Arg82Ser) n.250C>A | dbSNP |
| 1 | g.40784337C= | CA1164531216 | KCNQ4 | c.244C= (p.Arg82=) n.250C= | |
| 1 | g.40784337C>G | CA339885340 | KCNQ4 | c.244C>G (p.Arg82Gly) n.250C>G | gnomAD v4 |
| 1 | g.40784337C>T | CA794469 | KCNQ4 | c.244C>T (p.Arg82Cys) n.250C>T | dbSNP ExAC gnomAD v2 |
| 1 | g.40784338G>A | CA339885341 | KCNQ4 | c.245G>A (p.Arg82His) n.251G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784338G>C | CA339885342 | KCNQ4 | c.245G>C (p.Arg82Pro) n.251G>C | |
| 1 | g.40784338G= | CA1164531217 | KCNQ4 | c.245G= (p.Arg82=) n.251G= | |
| 1 | g.40784338G>T | CA339885343 | KCNQ4 | c.245G>T (p.Arg82Leu) n.251G>T | gnomAD v4 |
| 1 | g.40784339C>A | CA417535442 | KCNQ4 | c.246C>A (p.Arg82=) n.252C>A | |
| 1 | g.40784339C= | CA1164531218 | KCNQ4 | c.246C= (p.Arg82=) n.252C= | |
| 1 | g.40784339C>G | CA417535445 | KCNQ4 | c.246C>G (p.Arg82=) n.252C>G | |
| 1 | g.40784339C>T | CA794470 | KCNQ4 | c.246C>T (p.Arg82=) n.252C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784340C>A | CA339885344 | KCNQ4 | c.247C>A (p.Leu83Met) n.253C>A | |
| 1 | g.40784340C= | CA1164531219 | KCNQ4 | c.247C= (p.Leu83=) n.253C= | |
| 1 | g.40784340C>G | CA339885345 | KCNQ4 | c.247C>G (p.Leu83Val) n.253C>G | gnomAD v4 |
| 1 | g.40784340C>T | CA417535446 | KCNQ4 | c.247C>T (p.Leu83=) n.253C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784341T>A | CA339885346 | KCNQ4 | c.248T>A (p.Leu83Gln) n.254T>A | |
| 1 | g.40784341T>C | CA339885347 | KCNQ4 | c.248T>C (p.Leu83Pro) n.254T>C | gnomAD v4 |
| 1 | g.40784341T>G | CA339885348 | KCNQ4 | c.248T>G (p.Leu83Arg) n.254T>G | |
| 1 | g.40784342G>A | CA417535450 | KCNQ4 | c.249G>A (p.Leu83=) n.255G>A | gnomAD v4 |
| 1 | g.40784342G>C | CA417535451 | KCNQ4 | c.249G>C (p.Leu83=) n.255G>C | |
| 1 | g.40784342G>T | CA417535448 | KCNQ4 | c.249G>T (p.Leu83=) n.255G>T | gnomAD v4 |
| 1 | g.40784343C>A | CA339885350 | KCNQ4 | c.250C>A (p.Gln84Lys) n.256C>A | |
| 1 | g.40784343C>G | CA339885351 | KCNQ4 | c.250C>G (p.Gln84Glu) n.256C>G | |
| 1 | g.40784343C>T | CA339885349 | KCNQ4 | c.250C>T (p.Gln84Ter) n.256C>T | gnomAD v4 |
| 1 | g.40784344A>C | CA339885352 | KCNQ4 | c.251A>C (p.Gln84Pro) n.257A>C | |
| 1 | g.40784344A>G | CA339885353 | KCNQ4 | c.251A>G (p.Gln84Arg) n.257A>G | |
| 1 | g.40784344A>T | CA339885354 | KCNQ4 | c.251A>T (p.Gln84Leu) n.257A>T | |
| 1 | g.40784345G>A | CA794471 | KCNQ4 | c.252G>A (p.Gln84=) n.258G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40784345G>C | CA339885355 | KCNQ4 | c.252G>C (p.Gln84His) n.258G>C | |
| 1 | g.40784345G= | CA1164531220 | KCNQ4 | c.252G= (p.Gln84=) n.258G= | |
| 1 | g.40784345G>T | CA339885356 | KCNQ4 | c.252G>T (p.Gln84His) n.258G>T | gnomAD v4 |
| 1 | g.40784346A>C | CA339885357 | KCNQ4 | c.253A>C (p.Asn85His) n.259A>C | |
| 1 | g.40784346A>G | CA339885359 | KCNQ4 | c.253A>G (p.Asn85Asp) n.259A>G | |
| 1 | g.40784346A>T | CA339885358 | KCNQ4 | c.253A>T (p.Asn85Tyr) n.259A>T | |
| 1 | g.40784347A>C | CA339885360 | KCNQ4 | c.254A>C (p.Asn85Thr) n.260A>C | |
| 1 | g.40784347A>G | CA339885361 | KCNQ4 | c.254A>G (p.Asn85Ser) n.260A>G | |
| 1 | g.40784347A>T | CA339885362 | KCNQ4 | c.254A>T (p.Asn85Ile) n.260A>T | |
| 1 | g.40784348C>A | CA339885363 | KCNQ4 | c.255C>A (p.Asn85Lys) n.261C>A | |
| 1 | g.40784348C= | CA1164531221 | KCNQ4 | c.255C= (p.Asn85=) n.261C= | |
| 1 | g.40784348C>G | CA794472 | KCNQ4 | c.255C>G (p.Asn85Lys) n.261C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784348C>T | CA417535457 | KCNQ4 | c.255C>T (p.Asn85=) n.261C>T | |
| 1 | g.40784349T>A | CA339885364 | KCNQ4 | c.256T>A (p.Trp86Arg) n.262T>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784349T>C | CA339885365 | KCNQ4 | c.256T>C (p.Trp86Arg) n.262T>C | gnomAD v4 |
| 1 | g.40784349T>G | CA794473 | KCNQ4 | c.256T>G (p.Trp86Gly) n.262T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40784349T= | CA1164531222 | KCNQ4 | c.256T= (p.Trp86=) n.262T= | |
| 1 | g.40784350G>A | CA339885369 | KCNQ4 | c.257G>A (p.Trp86Ter) n.263G>A | |
| 1 | g.40784350G>C | CA339885367 | KCNQ4 | c.257G>C (p.Trp86Ser) n.263G>C | |
| 1 | g.40784350G>T | CA339885368 | KCNQ4 | c.257G>T (p.Trp86Leu) n.263G>T | gnomAD v4 |
| 1 | g.40784351G>A | CA339885370 | KCNQ4 | c.258G>A (p.Trp86Ter) n.264G>A | |
| 1 | g.40784351G>C | CA339885371 | KCNQ4 | c.258G>C (p.Trp86Cys) n.264G>C | |
| 1 | g.40784351G>T | CA339885372 | KCNQ4 | c.258G>T (p.Trp86Cys) n.264G>T | gnomAD v4 |
| 1 | g.40784351_40784360delinsGGTCTACAAC | CA1164531223 | KCNQ4 | c.258_267delinsGGTCTACAAC (p.Trp86=) n.264_273delinsGGTCTACAAC | |
| 1 | g.40784352G>A | CA339885373 | KCNQ4 | c.259G>A (p.Val87Ile) n.265G>A | |
| 1 | g.40784352G>C | CA339885374 | KCNQ4 | c.259G>C (p.Val87Leu) n.265G>C | gnomAD v4 |
| 1 | g.40784352G>T | CA339885375 | KCNQ4 | c.259G>T (p.Val87Phe) n.265G>T | gnomAD v4 |
| 1 | g.40784354_40784362del | CA913189306 | KCNQ4 | c.261_269del (p.Tyr88_Val90del) n.267_275del | ClinVar dbSNP |
| 1 | g.40784353T>A | CA339885376 | KCNQ4 | c.260T>A (p.Val87Asp) n.266T>A | |
| 1 | g.40784353T>C | CA794474 | KCNQ4 | c.260T>C (p.Val87Ala) n.266T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40784353T>G | CA339885377 | KCNQ4 | c.260T>G (p.Val87Gly) n.266T>G | gnomAD v4 |
| 1 | g.40784353T= | CA1140021804 | KCNQ4 | c.260T= (p.Val87=) n.266T= | |
| 1 | g.40784354C>A | CA417535468 | KCNQ4 | c.261C>A (p.Val87=) n.267C>A | |
| 1 | g.40784354C= | CA1140024788 | KCNQ4 | c.261C= (p.Val87=) n.267C= | |
| 1 | g.40784354C>G | CA417535469 | KCNQ4 | c.261C>G (p.Val87=) n.267C>G | |
| 1 | g.40784354C>T | CA794475 | KCNQ4 | c.261C>T (p.Val87=) n.267C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.40784355T>A | CA339885379 | KCNQ4 | c.262T>A (p.Tyr88Asn) n.268T>A | |
| 1 | g.40784355T>C | CA339885380 | KCNQ4 | c.262T>C (p.Tyr88His) n.268T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784355T>G | CA339885378 | KCNQ4 | c.262T>G (p.Tyr88Asp) n.268T>G | |
| 1 | g.40784355T= | CA1164531224 | KCNQ4 | c.262T= (p.Tyr88=) n.268T= | |
| 1 | g.40784356A>C | CA339885381 | KCNQ4 | c.263A>C (p.Tyr88Ser) n.269A>C | |
| 1 | g.40784356A>G | CA339885382 | KCNQ4 | c.263A>G (p.Tyr88Cys) n.269A>G | COSMIC |
| 1 | g.40784356A>T | CA339885383 | KCNQ4 | c.263A>T (p.Tyr88Phe) n.269A>T | |
| 1 | g.40784357C>A | CA339885384 | KCNQ4 | c.264C>A (p.Tyr88Ter) n.270C>A | |
| 1 | g.40784357C>G | CA339885385 | KCNQ4 | c.264C>G (p.Tyr88Ter) n.270C>G | |
| 1 | g.40784357C>T | CA417535471 | KCNQ4 | c.264C>T (p.Tyr88=) n.270C>T | |
| 1 | g.40784358A= | CA1164531225 | KCNQ4 | c.265A= (p.Asn89=) n.271A= | |
| 1 | g.40784358A>C | CA339885388 | KCNQ4 | c.265A>C (p.Asn89His) n.271A>C | |
| 1 | g.40784358A>G | CA339885386 | KCNQ4 | c.265A>G (p.Asn89Asp) n.271A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784358A>T | CA339885387 | KCNQ4 | c.265A>T (p.Asn89Tyr) n.271A>T | |
| 1 | g.40784359A>C | CA339885389 | KCNQ4 | c.266A>C (p.Asn89Thr) n.272A>C | |
| 1 | g.40784359A>G | CA339885390 | KCNQ4 | c.266A>G (p.Asn89Ser) n.272A>G | |
| 1 | g.40784359A>T | CA339885391 | KCNQ4 | c.266A>T (p.Asn89Ile) n.272A>T | |
| 1 | g.40784360C>A | CA339885392 | KCNQ4 | c.267C>A (p.Asn89Lys) n.273C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784360C= | CA1164531226 | KCNQ4 | c.267C= (p.Asn89=) n.273C= | |
| 1 | g.40784360C>G | CA339885393 | KCNQ4 | c.267C>G (p.Asn89Lys) n.273C>G | |
| 1 | g.40784360C>T | CA417535476 | KCNQ4 | c.267C>T (p.Asn89=) n.273C>T | gnomAD v4 |
| 1 | g.40784361del | CA2645131477 | KCNQ4 | c.268del (p.Val90CysfsTer?) n.274del | gnomAD v4 |
| 1 | g.40784361G>A | CA339885396 | KCNQ4 | c.268G>A (p.Val90Met) n.274G>A | |
| 1 | g.40784361G>C | CA339885395 | KCNQ4 | c.268G>C (p.Val90Leu) n.274G>C | ClinVar gnomAD v4 |
| 1 | g.40784361G>T | CA339885394 | KCNQ4 | c.268G>T (p.Val90Leu) n.274G>T | gnomAD v4 |
| 1 | g.40784362T>A | CA339885397 | KCNQ4 | c.269T>A (p.Val90Glu) n.275T>A | |
| 1 | g.40784362T>C | CA339885398 | KCNQ4 | c.269T>C (p.Val90Ala) n.275T>C | gnomAD v4 |
| 1 | g.40784362T>G | CA339885399 | KCNQ4 | c.269T>G (p.Val90Gly) n.275T>G | |
| 1 | g.40784363G>A | CA417535477 | KCNQ4 | c.270G>A (p.Val90=) n.276G>A | gnomAD v4 |
| 1 | g.40784363G>C | CA417535479 | KCNQ4 | c.270G>C (p.Val90=) n.276G>C | |
| 1 | g.40784363G>T | CA417535478 | KCNQ4 | c.270G>T (p.Val90=) n.276G>T | |
| 1 | g.40784364C>A | CA339885400 | KCNQ4 | c.271C>A (p.Leu91Met) n.277C>A | |
| 1 | g.40784364C>G | CA339885401 | KCNQ4 | c.271C>G (p.Leu91Val) n.277C>G | |
| 1 | g.40784364C>T | CA417535480 | KCNQ4 | c.271C>T (p.Leu91=) n.277C>T | gnomAD v4 |
| 1 | g.40784365T>A | CA339885402 | KCNQ4 | c.272T>A (p.Leu91Gln) n.278T>A | |
| 1 | g.40784365T>C | CA339885403 | KCNQ4 | c.272T>C (p.Leu91Pro) n.278T>C | gnomAD v4 |
| 1 | g.40784365T>G | CA339885404 | KCNQ4 | c.272T>G (p.Leu91Arg) n.278T>G | |
| 1 | g.40784366G>A | CA417535484 | KCNQ4 | c.273G>A (p.Leu91=) n.279G>A | gnomAD v4 |
| 1 | g.40784366G>C | CA417535485 | KCNQ4 | c.273G>C (p.Leu91=) n.279G>C | |
| 1 | g.40784366G>T | CA417535486 | KCNQ4 | c.273G>T (p.Leu91=) n.279G>T | |
| 1 | g.40784367G>A | CA339885405 | KCNQ4 | c.274G>A (p.Glu92Lys) n.280G>A | ClinVar dbSNP |
| 1 | g.40784367G>C | CA339885406 | KCNQ4 | c.274G>C (p.Glu92Gln) n.280G>C | |
| 1 | g.40784367G>T | CA339885407 | KCNQ4 | c.274G>T (p.Glu92Ter) n.280G>T | gnomAD v4 |
| 1 | g.40784368A>C | CA339885408 | KCNQ4 | c.275A>C (p.Glu92Ala) n.281A>C | |
| 1 | g.40784368A>G | CA339885409 | KCNQ4 | c.275A>G (p.Glu92Gly) n.281A>G | |
| 1 | g.40784368A>T | CA339885410 | KCNQ4 | c.275A>T (p.Glu92Val) n.281A>T | |
| 1 | g.40784369G>A | CA417535487 | KCNQ4 | c.276G>A (p.Glu92=) n.282G>A | |
| 1 | g.40784369G>C | CA339885412 | KCNQ4 | c.276G>C (p.Glu92Asp) n.282G>C | |
| 1 | g.40784369G>T | CA339885411 | KCNQ4 | c.276G>T (p.Glu92Asp) n.282G>T | gnomAD v4 |
| 1 | g.40784370C>A | CA417535490 | KCNQ4 | c.277C>A (p.Arg93=) n.283C>A | gnomAD v4 |
| 1 | g.40784370C>G | CA339885413 | KCNQ4 | c.277C>G (p.Arg93Gly) n.283C>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784370C>T | CA339885414 | KCNQ4 | c.277C>T (p.Arg93Trp) n.283C>T | gnomAD v4 |
| 1 | g.40784371G>A | CA339885415 | KCNQ4 | c.278G>A (p.Arg93Gln) n.284G>A | |
| 1 | g.40784371G>C | CA339885416 | KCNQ4 | c.278G>C (p.Arg93Pro) n.284G>C | |
| 1 | g.40784371G>T | CA339885417 | KCNQ4 | c.278G>T (p.Arg93Leu) n.284G>T | gnomAD v4 |
| 1 | g.40784372G>A | CA417535491 | KCNQ4 | c.279G>A (p.Arg93=) n.285G>A | gnomAD v4 |
| 1 | g.40784372G>C | CA417535492 | KCNQ4 | c.279G>C (p.Arg93=) n.285G>C | |
| 1 | g.40784372G>T | CA417535494 | KCNQ4 | c.279G>T (p.Arg93=) n.285G>T | |
| 1 | g.40784373C>A | CA339885418 | KCNQ4 | c.280C>A (p.Pro94Thr) n.286C>A | |
| 1 | g.40784373C= | CA1164531227 | KCNQ4 | c.280C= (p.Pro94=) n.286C= | |
| 1 | g.40784373C>G | CA339885419 | KCNQ4 | c.280C>G (p.Pro94Ala) n.286C>G | gnomAD v4 |
| 1 | g.40784373C>T | CA339885420 | KCNQ4 | c.280C>T (p.Pro94Ser) n.286C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40784376del | CA2645131486 | KCNQ4 | c.283del (p.Arg95AlafsTer?) n.289del | gnomAD v4 |
| 1 | g.40784374C>A | CA339885421 | KCNQ4 | c.281C>A (p.Pro94His) n.287C>A | |
| 1 | g.40784374C>G | CA339885422 | KCNQ4 | c.281C>G (p.Pro94Arg) n.287C>G | |
| 1 | g.40784374C>T | CA339885423 | KCNQ4 | c.281C>T (p.Pro94Leu) n.287C>T | |
| 1 | g.40784375C>A | CA417535497 | KCNQ4 | c.282C>A (p.Pro94=) n.288C>A | gnomAD v4 |
| 1 | g.40784375C= | CA1164531228 | KCNQ4 | c.282C= (p.Pro94=) n.288C= | |
| 1 | g.40784375C>G | CA417535499 | KCNQ4 | c.282C>G (p.Pro94=) n.288C>G | |
| 1 | g.40784375C>T | CA417535500 | KCNQ4 | c.282C>T (p.Pro94=) n.288C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40784376C>A | CA339885424 | KCNQ4 | c.283C>A (p.Arg95Ser) n.289C>A | |
| 1 | g.40784376C= | CA1164531230 | KCNQ4 | c.283C= (p.Arg95=) n.289C= | |
| 1 | g.40784376C>G | CA21089222 | KCNQ4 | c.283C>G (p.Arg95Gly) n.289C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40784376C>T | CA339885425 | KCNQ4 | c.283C>T (p.Arg95Cys) n.289C>T | dbSNP gnomAD v4 |
| 1 | g.40784376_40784377delinsCG | CA1164531229 | KCNQ4 | c.283_284delinsCG (p.Arg95=) n.289_290delinsCG | |
| 1 | g.40784377del | CA794476 | KCNQ4 | c.284del (p.Arg95ProfsTer?) n.290del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40784377G>A | CA339885427 | KCNQ4 | c.284G>A (p.Arg95His) n.290G>A | |
| 1 | g.40784377G>C | CA339885428 | KCNQ4 | c.284G>C (p.Arg95Pro) n.290G>C | |
| 1 | g.40784377G>T | CA339885426 | KCNQ4 | c.284G>T (p.Arg95Leu) n.290G>T | gnomAD v4 |