UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63472265_63472324del | CA2653817086 | KCNQ2 | c.151_210del (p.Gly51_Arg70del) n.277_336del | gnomAD v4 |
| 20 | g.63472271C>A | CA409635246 | KCNQ2 | c.193G>T (p.Gly65Trp) n.319G>T | gnomAD v4 |
| 20 | g.63472271C= | CA2374810955 | KCNQ2 | c.193G= (p.Gly65=) n.319G= | |
| 20 | g.63472271C>G | CA409635247 | KCNQ2 | c.193G>C (p.Gly65Arg) n.319G>C | |
| 20 | g.63472271C>T | CA9958894 | KCNQ2 | c.193G>A (p.Gly65Arg) n.319G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.63472272G>A | CA511339825 | KCNQ2 | c.192C>T (p.Ala64=) n.318C>T | ClinVar gnomAD v4 |
| 20 | g.63472272G>C | CA511339826 | KCNQ2 | c.192C>G (p.Ala64=) n.318C>G | gnomAD v4 |
| 20 | g.63472272G>T | CA511339827 | KCNQ2 | c.192C>A (p.Ala64=) n.318C>A | |
| 20 | g.63472273G>A | CA409635251 | KCNQ2 | c.191C>T (p.Ala64Val) n.317C>T | |
| 20 | g.63472273G>C | CA409635252 | KCNQ2 | c.191C>G (p.Ala64Gly) n.317C>G | |
| 20 | g.63472273G= | CA2374810956 | KCNQ2 | c.191C= (p.Ala64=) n.317C= | |
| 20 | g.63472273G>T | CA409635253 | KCNQ2 | c.191C>A (p.Ala64Asp) n.317C>A | |
| 20 | g.63472274C>A | CA315339 | KCNQ2 | c.190G>T (p.Ala64Ser) n.316G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63472274C= | CA2374810957 | KCNQ2 | c.190G= (p.Ala64=) n.316G= | |
| 20 | g.63472274C>G | CA409635257 | KCNQ2 | c.190G>C (p.Ala64Pro) n.316G>C | |
| 20 | g.63472274C>T | CA409635259 | KCNQ2 | c.190G>A (p.Ala64Thr) n.316G>A | gnomAD v4 |
| 20 | g.63472274dup | CA2695230054 | KCNQ2 | c.190dup (p.Ala64GlyfsTer?) n.316dup | |
| 20 | g.63472283_63472291dup | CA636614357 | KCNQ2 | c.182_190dup (p.Gly63_Ala64insGlyAlaGly) n.308_316dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63472283_63472291del | CA2577453884 | KCNQ2 | c.182_190del (p.Gly61_Gly63del) n.308_316del | gnomAD v4 |
| 20 | g.63472275G>A | CA317423815 | KCNQ2 | c.189C>T (p.Gly63=) n.315C>T | dbSNP gnomAD v4 |
| 20 | g.63472275G>C | CA511339829 | KCNQ2 | c.189C>G (p.Gly63=) n.315C>G | |
| 20 | g.63472275G= | CA2374810958 | KCNQ2 | c.189C= (p.Gly63=) n.315C= | |
| 20 | g.63472275G>T | CA511339831 | KCNQ2 | c.189C>A (p.Gly63=) n.315C>A | gnomAD v4 |
| 20 | g.63472276C>A | CA409635261 | KCNQ2 | c.188G>T (p.Gly63Val) n.314G>T | ClinVar |
| 20 | g.63472276C>G | CA409635262 | KCNQ2 | c.188G>C (p.Gly63Ala) n.314G>C | |
| 20 | g.63472276C>T | CA409635265 | KCNQ2 | c.188G>A (p.Gly63Asp) n.314G>A | gnomAD v4 |
| 20 | g.63472277C>A | CA409635269 | KCNQ2 | c.187G>T (p.Gly63Cys) n.313G>T | |
| 20 | g.63472277C>G | CA409635268 | KCNQ2 | c.187G>C (p.Gly63Arg) n.313G>C | |
| 20 | g.63472277C>T | CA409635267 | KCNQ2 | c.187G>A (p.Gly63Ser) n.313G>A | gnomAD v4 |
| 20 | g.63472278C>A | CA511339833 | KCNQ2 | c.186G>T (p.Ala62=) n.312G>T | gnomAD v4 |
| 20 | g.63472278C>G | CA511339834 | KCNQ2 | c.186G>C (p.Ala62=) n.312G>C | gnomAD v4 |
| 20 | g.63472278C>T | CA511339835 | KCNQ2 | c.186G>A (p.Ala62=) n.312G>A | ClinVar gnomAD v4 |
| 20 | g.63472279G>A | CA315336 | KCNQ2 | c.185C>T (p.Ala62Val) n.311C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63472279G>C | CA10644388 | KCNQ2 | c.185C>G (p.Ala62Gly) n.311C>G | dbSNP gnomAD v4 |
| 20 | g.63472279G= | CA2374810959 | KCNQ2 | c.185C= (p.Ala62=) n.311C= | |
| 20 | g.63472279G>T | CA409635273 | KCNQ2 | c.185C>A (p.Ala62Glu) n.311C>A | |
| 20 | g.63472280C>A | CA409635276 | KCNQ2 | c.184G>T (p.Ala62Ser) n.310G>T | gnomAD v4 |
| 20 | g.63472280C= | CA2374810960 | KCNQ2 | c.184G= (p.Ala62=) n.310G= | |
| 20 | g.63472280C>G | CA409635278 | KCNQ2 | c.184G>C (p.Ala62Pro) n.310G>C | |
| 20 | g.63472280C>T | CA409635280 | KCNQ2 | c.184G>A (p.Ala62Thr) n.310G>A | dbSNP gnomAD v4 |
| 20 | g.63472281G>A | CA9958895 | KCNQ2 | c.183C>T (p.Gly61=) n.309C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.63472281G>C | CA511339838 | KCNQ2 | c.183C>G (p.Gly61=) n.309C>G | gnomAD v4 |
| 20 | g.63472281G= | CA2374810961 | KCNQ2 | c.183C= (p.Gly61=) n.309C= | |
| 20 | g.63472281G>T | CA511339839 | KCNQ2 | c.183C>A (p.Gly61=) n.309C>A | gnomAD v4 |
| 20 | g.63472282C>A | CA409635283 | KCNQ2 | c.182G>T (p.Gly61Val) n.308G>T | gnomAD v4 |
| 20 | g.63472282C>G | CA409635285 | KCNQ2 | c.182G>C (p.Gly61Ala) n.308G>C | |
| 20 | g.63472282C>T | CA409635287 | KCNQ2 | c.182G>A (p.Gly61Asp) n.308G>A | gnomAD v4 |
| 20 | g.63472283C>A | CA409635289 | KCNQ2 | c.181G>T (p.Gly61Cys) n.307G>T | gnomAD v4 |
| 20 | g.63472283C>G | CA409635291 | KCNQ2 | c.181G>C (p.Gly61Arg) n.307G>C | |
| 20 | g.63472283C>T | CA409635293 | KCNQ2 | c.181G>A (p.Gly61Ser) n.307G>A | gnomAD v4 |
| 20 | g.63472284G>A | CA9958896 | KCNQ2 | c.180C>T (p.Gly60=) n.306C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63472284G>C | CA511339841 | KCNQ2 | c.180C>G (p.Gly60=) n.306C>G | gnomAD v4 |
| 20 | g.63472284G= | CA2374810962 | KCNQ2 | c.180C= (p.Gly60=) n.306C= | |
| 20 | g.63472284G>T | CA511339840 | KCNQ2 | c.180C>A (p.Gly60=) n.306C>A | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63472285C>A | CA409635300 | KCNQ2 | c.179G>T (p.Gly60Val) n.305G>T | gnomAD v4 |
| 20 | g.63472285C= | CA2374810963 | KCNQ2 | c.179G= (p.Gly60=) n.305G= | |
| 20 | g.63472285C>G | CA409635297 | KCNQ2 | c.179G>C (p.Gly60Ala) n.305G>C | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63472285C>T | CA409635298 | KCNQ2 | c.179G>A (p.Gly60Asp) n.305G>A | ClinVar |
| 20 | g.63472286C>A | CA409635303 | KCNQ2 | c.178G>T (p.Gly60Cys) n.304G>T | |
| 20 | g.63472286C= | CA2374810964 | KCNQ2 | c.178G= (p.Gly60=) n.304G= | |
| 20 | g.63472286C>G | CA409635304 | KCNQ2 | c.178G>C (p.Gly60Arg) n.304G>C | |
| 20 | g.63472286C>T | CA317423835 | KCNQ2 | c.178G>A (p.Gly60Ser) n.304G>A | dbSNP gnomAD v4 |
| 20 | g.63472287C>A | CA511339843 | KCNQ2 | c.177G>T (p.Ala59=) n.303G>T | gnomAD v4 |
| 20 | g.63472287C>G | CA511339844 | KCNQ2 | c.177G>C (p.Ala59=) n.303G>C | gnomAD v4 |
| 20 | g.63472287C>T | CA511339845 | KCNQ2 | c.177G>A (p.Ala59=) n.303G>A | gnomAD v4 |
| 20 | g.63472288G>A | CA409635308 | KCNQ2 | c.176C>T (p.Ala59Val) n.302C>T | ClinVar |
| 20 | g.63472288G>C | CA409635309 | KCNQ2 | c.176C>G (p.Ala59Gly) n.302C>G | |
| 20 | g.63472288G>T | CA409635310 | KCNQ2 | c.176C>A (p.Ala59Glu) n.302C>A | |
| 20 | g.63472289C>A | CA409635313 | KCNQ2 | c.175G>T (p.Ala59Ser) n.301G>T | gnomAD v4 |
| 20 | g.63472289C>G | CA409635315 | KCNQ2 | c.175G>C (p.Ala59Pro) n.301G>C | gnomAD v4 |
| 20 | g.63472289C>T | CA409635316 | KCNQ2 | c.175G>A (p.Ala59Thr) n.301G>A | gnomAD v4 |
| 20 | g.63472290G>A | CA511339849 | KCNQ2 | c.174C>T (p.Arg58=) n.300C>T | dbSNP |
| 20 | g.63472290G>C | CA511339850 | KCNQ2 | c.174C>G (p.Arg58=) n.300C>G | |
| 20 | g.63472290G= | CA2374810965 | KCNQ2 | c.174C= (p.Arg58=) n.300C= | |
| 20 | g.63472290G>T | CA511339851 | KCNQ2 | c.174C>A (p.Arg58=) n.300C>A | gnomAD v4 |
| 20 | g.63472291C>A | CA409635318 | KCNQ2 | c.173G>T (p.Arg58Leu) n.299G>T | |
| 20 | g.63472291C>G | CA409635319 | KCNQ2 | c.173G>C (p.Arg58Pro) n.299G>C | |
| 20 | g.63472291C>T | CA409635320 | KCNQ2 | c.173G>A (p.Arg58His) n.299G>A | |
| 20 | g.63472292G>A | CA409635325 | KCNQ2 | c.172C>T (p.Arg58Cys) n.298C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63472292G>C | CA409635327 | KCNQ2 | c.172C>G (p.Arg58Gly) n.298C>G | |
| 20 | g.63472292G= | CA2374810966 | KCNQ2 | c.172C= (p.Arg58=) n.298C= | |
| 20 | g.63472292G>T | CA409635323 | KCNQ2 | c.172C>A (p.Arg58Ser) n.298C>A | |
| 20 | g.63472292_63472293delinsTT | CA2573054907 | KCNQ2 | c.171_172delinsAA (p.Arg58Ser) n.297_298delinsAA | ClinVar dbSNP |
| 20 | g.63472293A>C | CA511339852 | KCNQ2 | c.171T>G (p.Pro57=) n.297T>G | |
| 20 | g.63472293A>G | CA511339853 | KCNQ2 | c.171T>C (p.Pro57=) n.297T>C | gnomAD v4 |
| 20 | g.63472293A>T | CA511339854 | KCNQ2 | c.171T>A (p.Pro57=) n.297T>A | |
| 20 | g.63472294G>A | CA409635329 | KCNQ2 | c.170C>T (p.Pro57Leu) n.296C>T | |
| 20 | g.63472294G>C | CA409635330 | KCNQ2 | c.170C>G (p.Pro57Arg) n.296C>G | |
| 20 | g.63472294G>T | CA409635331 | KCNQ2 | c.170C>A (p.Pro57His) n.296C>A | |
| 20 | g.63472295del | CA2695230055 | KCNQ2 | c.170del (p.Pro57LeufsTer?) n.296del | |
| 20 | g.63472295G>A | CA409635334 | KCNQ2 | c.169C>T (p.Pro57Ser) n.295C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63472295G>C | CA409635335 | KCNQ2 | c.169C>G (p.Pro57Ala) n.295C>G | |
| 20 | g.63472295G= | CA2374810967 | KCNQ2 | c.169C= (p.Pro57=) n.295C= | |
| 20 | g.63472295G>T | CA409635336 | KCNQ2 | c.169C>A (p.Pro57Thr) n.295C>A | |
| 20 | g.63472296T>A | CA409635338 | KCNQ2 | c.168A>T (p.Lys56Asn) n.294A>T | |
| 20 | g.63472296T>C | CA511339857 | KCNQ2 | c.168A>G (p.Lys56=) n.294A>G | |
| 20 | g.63472296T>G | CA409635340 | KCNQ2 | c.168A>C (p.Lys56Asn) n.294A>C | |
| 20 | g.63472296T= | CA2374810968 | KCNQ2 | c.168A= (p.Lys56=) n.294A= | |
| 20 | g.63472297T>A | CA409635342 | KCNQ2 | c.167A>T (p.Lys56Ile) n.293A>T | |
| 20 | g.63472297T>C | CA409635344 | KCNQ2 | c.167A>G (p.Lys56Arg) n.293A>G | dbSNP gnomAD v4 |
| 20 | g.63472297T>G | CA409635345 | KCNQ2 | c.167A>C (p.Lys56Thr) n.293A>C | |
| 20 | g.63472297T= | CA2374810969 | KCNQ2 | c.167A= (p.Lys56=) n.293A= | |
| 20 | g.63472297_63472302dup | CA317423843 | KCNQ2 | c.162_167dup (p.Ser55_Lys56insAsnSer) n.288_293dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63472298T>A | CA409635346 | KCNQ2 | c.166A>T (p.Lys56Ter) n.292A>T | |
| 20 | g.63472298T>C | CA409635348 | KCNQ2 | c.166A>G (p.Lys56Glu) n.292A>G | |
| 20 | g.63472298T>G | CA409635350 | KCNQ2 | c.166A>C (p.Lys56Gln) n.292A>C | |
| 20 | g.63472299G>A | CA511339861 | KCNQ2 | c.165C>T (p.Ser55=) n.291C>T | gnomAD v4 |
| 20 | g.63472299G>C | CA409635354 | KCNQ2 | c.165C>G (p.Ser55Arg) n.291C>G | |
| 20 | g.63472299G>T | CA409635352 | KCNQ2 | c.165C>A (p.Ser55Arg) n.291C>A | gnomAD v4 |
| 20 | g.63472300C>A | CA409635356 | KCNQ2 | c.164G>T (p.Ser55Ile) n.290G>T | |
| 20 | g.63472300C>G | CA409635358 | KCNQ2 | c.164G>C (p.Ser55Thr) n.290G>C | |
| 20 | g.63472300C>T | CA409635360 | KCNQ2 | c.164G>A (p.Ser55Asn) n.290G>A | gnomAD v4 |
| 20 | g.63472301T>A | CA409635361 | KCNQ2 | c.163A>T (p.Ser55Cys) n.289A>T | |
| 20 | g.63472301T>C | CA409635362 | KCNQ2 | c.163A>G (p.Ser55Gly) n.289A>G | |
| 20 | g.63472301T>G | CA409635367 | KCNQ2 | c.163A>C (p.Ser55Arg) n.289A>C | |
| 20 | g.63472302G>A | CA511339862 | KCNQ2 | c.162C>T (p.Leu54=) n.288C>T | ClinVar dbSNP gnomAD v4 |
| 20 | g.63472302G>C | CA511339864 | KCNQ2 | c.162C>G (p.Leu54=) n.288C>G | |
| 20 | g.63472302G>T | CA511339865 | KCNQ2 | c.162C>A (p.Leu54=) n.288C>A | gnomAD v4 |
| 20 | g.63472303A>C | CA409635369 | KCNQ2 | c.161T>G (p.Leu54Arg) n.287T>G | |
| 20 | g.63472303A>G | CA409635371 | KCNQ2 | c.161T>C (p.Leu54Pro) n.287T>C | gnomAD v4 |
| 20 | g.63472303A>T | CA409635373 | KCNQ2 | c.161T>A (p.Leu54His) n.287T>A | |
| 20 | g.63472304G>A | CA9958897 | KCNQ2 | c.160C>T (p.Leu54Phe) n.286C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.63472304G>C | CA409635375 | KCNQ2 | c.160C>G (p.Leu54Val) n.286C>G | |
| 20 | g.63472304G= | CA2374810970 | KCNQ2 | c.160C= (p.Leu54=) n.286C= | |
| 20 | g.63472304G>T | CA409635377 | KCNQ2 | c.160C>A (p.Leu54Ile) n.286C>A | gnomAD v4 |
| 20 | g.63472305G>A | CA511339867 | KCNQ2 | c.159C>T (p.Ile53=) n.285C>T | |
| 20 | g.63472305G>C | CA409635379 | KCNQ2 | c.159C>G (p.Ile53Met) n.285C>G | |
| 20 | g.63472305G>T | CA511339866 | KCNQ2 | c.159C>A (p.Ile53=) n.285C>A | gnomAD v4 |
| 20 | g.63472306A= | CA2374810971 | KCNQ2 | c.158T= (p.Ile53=) n.284T= | |
| 20 | g.63472306A>C | CA409635381 | KCNQ2 | c.158T>G (p.Ile53Ser) n.284T>G | |
| 20 | g.63472306A>G | CA317423862 | KCNQ2 | c.158T>C (p.Ile53Thr) n.284T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63472306A>T | CA409635383 | KCNQ2 | c.158T>A (p.Ile53Asn) n.284T>A | |
| 20 | g.63472307T>A | CA409635387 | KCNQ2 | c.157A>T (p.Ile53Phe) n.283A>T | |
| 20 | g.63472307T>C | CA409635388 | KCNQ2 | c.157A>G (p.Ile53Val) n.283A>G | gnomAD v4 |
| 20 | g.63472307T>G | CA409635389 | KCNQ2 | c.157A>C (p.Ile53Leu) n.283A>C | |
| 20 | g.63472308G>A | CA511339871 | KCNQ2 | c.156C>T (p.Ser52=) n.282C>T | gnomAD v4 |
| 20 | g.63472308G>C | CA409635392 | KCNQ2 | c.156C>G (p.Ser52Arg) n.282C>G | |
| 20 | g.63472308G>T | CA409635394 | KCNQ2 | c.156C>A (p.Ser52Arg) n.282C>A | |
| 20 | g.63472309C>A | CA409635396 | KCNQ2 | c.155G>T (p.Ser52Ile) n.281G>T | |
| 20 | g.63472309C>G | CA409635397 | KCNQ2 | c.155G>C (p.Ser52Thr) n.281G>C | |
| 20 | g.63472309C>T | CA409635399 | KCNQ2 | c.155G>A (p.Ser52Asn) n.281G>A | gnomAD v4 |
| 20 | g.63472310T>A | CA409635407 | KCNQ2 | c.154A>T (p.Ser52Cys) n.280A>T | |
| 20 | g.63472310T>C | CA409635411 | KCNQ2 | c.154A>G (p.Ser52Gly) n.280A>G | |
| 20 | g.63472310T>G | CA409635414 | KCNQ2 | c.154A>C (p.Ser52Arg) n.280A>C | |
| 20 | g.63472311G>A | CA511339875 | KCNQ2 | c.153C>T (p.Gly51=) n.279C>T | gnomAD v4 |
| 20 | g.63472311G>C | CA511339877 | KCNQ2 | c.153C>G (p.Gly51=) n.279C>G | ClinVar dbSNP |
| 20 | g.63472311G>T | CA511339876 | KCNQ2 | c.153C>A (p.Gly51=) n.279C>A | gnomAD v4 |
| 20 | g.63472312C>A | CA409635422 | KCNQ2 | c.152G>T (p.Gly51Val) n.278G>T | dbSNP |
| 20 | g.63472312C>G | CA409635420 | KCNQ2 | c.152G>C (p.Gly51Ala) n.278G>C | |
| 20 | g.63472312C>T | CA409635417 | KCNQ2 | c.152G>A (p.Gly51Asp) n.278G>A | |
| 20 | g.63472313C>A | CA409635424 | KCNQ2 | c.151G>T (p.Gly51Cys) n.277G>T | gnomAD v4 |
| 20 | g.63472313C>G | CA409635427 | KCNQ2 | c.151G>C (p.Gly51Arg) n.277G>C | ClinVar |
| 20 | g.63472313C>T | CA409635429 | KCNQ2 | c.151G>A (p.Gly51Ser) n.277G>A | ClinVar |
| 20 | g.63472314G>A | CA511339879 | KCNQ2 | c.150C>T (p.Arg50=) n.276C>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63472314G>C | CA511339880 | KCNQ2 | c.150C>G (p.Arg50=) n.276C>G | |
| 20 | g.63472314G= | CA2374810972 | KCNQ2 | c.150C= (p.Arg50=) n.276C= | |
| 20 | g.63472314G>T | CA511339881 | KCNQ2 | c.150C>A (p.Arg50=) n.276C>A | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63472315C>A | CA409635431 | KCNQ2 | c.149G>T (p.Arg50Leu) n.275G>T | |
| 20 | g.63472315C= | CA2374810973 | KCNQ2 | c.149G= (p.Arg50=) n.275G= | |
| 20 | g.63472315C>G | CA409635434 | KCNQ2 | c.149G>C (p.Arg50Pro) n.275G>C | |
| 20 | g.63472315C>T | CA16621792 | KCNQ2 | c.149G>A (p.Arg50His) n.275G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63472316G>A | CA409635439 | KCNQ2 | c.148C>T (p.Arg50Cys) n.274C>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63472316G>C | CA409635442 | KCNQ2 | c.148C>G (p.Arg50Gly) n.274C>G | |
| 20 | g.63472316G= | CA2374810974 | KCNQ2 | c.148C= (p.Arg50=) n.274C= | |
| 20 | g.63472316G>T | CA409635445 | KCNQ2 | c.148C>A (p.Arg50Ser) n.274C>A | gnomAD v4 |
| 20 | g.63472317C>A | CA409635447 | KCNQ2 | c.147G>T (p.Lys49Asn) n.273G>T | |
| 20 | g.63472317C>G | CA409635449 | KCNQ2 | c.147G>C (p.Lys49Asn) n.273G>C | |
| 20 | g.63472317C>T | CA511339883 | KCNQ2 | c.147G>A (p.Lys49=) n.273G>A | gnomAD v4 |
| 20 | g.63472318T>A | CA409635458 | KCNQ2 | c.146A>T (p.Lys49Met) n.272A>T | |
| 20 | g.63472318T>C | CA409635455 | KCNQ2 | c.146A>G (p.Lys49Arg) n.272A>G | gnomAD v4 |
| 20 | g.63472318T>G | CA409635453 | KCNQ2 | c.146A>C (p.Lys49Thr) n.272A>C | |
| 20 | g.63472319T>A | CA409635462 | KCNQ2 | c.145A>T (p.Lys49Ter) n.271A>T | |
| 20 | g.63472319T>C | CA409635466 | KCNQ2 | c.145A>G (p.Lys49Glu) n.271A>G | gnomAD v4 |
| 20 | g.63472319T>G | CA409635464 | KCNQ2 | c.145A>C (p.Lys49Gln) n.271A>C | |
| 20 | g.63472319_63472320delinsTG | CA2374810975 | KCNQ2 | c.144_145delinsCA (p.Pro48=) n.270_271delinsCA | |
| 20 | g.63472320G>A | CA511339887 | KCNQ2 | c.144C>T (p.Pro48=) n.270C>T | ClinVar dbSNP |
| 20 | g.63472320G>C | CA511339888 | KCNQ2 | c.144C>G (p.Pro48=) n.270C>G | gnomAD v4 |
| 20 | g.63472320G= | CA2374810976 | KCNQ2 | c.144C= (p.Pro48=) n.270C= | |
| 20 | g.63472320G>T | CA511339889 | KCNQ2 | c.144C>A (p.Pro48=) n.270C>A | gnomAD v4 |
| 20 | g.63472324dup | CA1139666787 | KCNQ2 | c.144dup (p.Lys49GlnfsTer?) n.270dup | ClinVar dbSNP |
| 20 | g.63472324del | CA658799394 | KCNQ2 | c.144del (p.Lys49SerfsTer?) n.270del | ClinVar dbSNP gnomAD v4 |
| 20 | g.63472321G>A | CA409635469 | KCNQ2 | c.143C>T (p.Pro48Leu) n.269C>T | |
| 20 | g.63472321G>C | CA409635471 | KCNQ2 | c.143C>G (p.Pro48Arg) n.269C>G | gnomAD v4 |
| 20 | g.63472321G>T | CA409635473 | KCNQ2 | c.143C>A (p.Pro48His) n.269C>A | |
| 20 | g.63472322G>A | CA409635478 | KCNQ2 | c.142C>T (p.Pro48Ser) n.268C>T | |
| 20 | g.63472322G>C | CA409635481 | KCNQ2 | c.142C>G (p.Pro48Ala) n.268C>G | |
| 20 | g.63472322G>T | CA409635483 | KCNQ2 | c.142C>A (p.Pro48Thr) n.268C>A | |
| 20 | g.63472323G>A | CA511339890 | KCNQ2 | c.141C>T (p.Ala47=) n.267C>T | gnomAD v4 |
| 20 | g.63472323G>C | CA511339891 | KCNQ2 | c.141C>G (p.Ala47=) n.267C>G | |
| 20 | g.63472323G>T | CA511339892 | KCNQ2 | c.141C>A (p.Ala47=) n.267C>A | gnomAD v4 |
| 20 | g.63472324G>A | CA409635486 | KCNQ2 | c.140C>T (p.Ala47Val) n.266C>T | gnomAD v4 |
| 20 | g.63472324G>C | CA409635488 | KCNQ2 | c.140C>G (p.Ala47Gly) n.266C>G | |
| 20 | g.63472324G>T | CA409635491 | KCNQ2 | c.140C>A (p.Ala47Asp) n.266C>A | gnomAD v4 |
| 20 | g.63472325C>A | CA409635495 | KCNQ2 | c.139G>T (p.Ala47Ser) n.265G>T | gnomAD v4 |
| 20 | g.63472325C>G | CA409635499 | KCNQ2 | c.139G>C (p.Ala47Pro) n.265G>C | |
| 20 | g.63472325C>T | CA409635502 | KCNQ2 | c.139G>A (p.Ala47Thr) n.265G>A | gnomAD v4 |
| 20 | g.63472326C>A | CA409635514 | KCNQ2 | c.138G>T (p.Glu46Asp) n.264G>T | gnomAD v4 |
| 20 | g.63472326C>G | CA409635505 | KCNQ2 | c.138G>C (p.Glu46Asp) n.264G>C | |
| 20 | g.63472326C>T | CA511339893 | KCNQ2 | c.138G>A (p.Glu46=) n.264G>A | |
| 20 | g.63472327T>A | CA409635519 | KCNQ2 | c.137A>T (p.Glu46Val) n.263A>T | |
| 20 | g.63472327T>C | CA409635520 | KCNQ2 | c.137A>G (p.Glu46Gly) n.263A>G | |
| 20 | g.63472327T>G | CA409635523 | KCNQ2 | c.137A>C (p.Glu46Ala) n.263A>C | |
| 20 | g.63472328C>A | CA409635526 | KCNQ2 | c.136G>T (p.Glu46Ter) n.262G>T | |
| 20 | g.63472328C>G | CA409635529 | KCNQ2 | c.136G>C (p.Glu46Gln) n.262G>C | ClinVar |
| 20 | g.63472328C>T | CA409635531 | KCNQ2 | c.136G>A (p.Glu46Lys) n.262G>A | ClinVar gnomAD v4 |
| 20 | g.63472329G>A | CA317423871 | KCNQ2 | c.135C>T (p.Ser45=) n.261C>T | dbSNP gnomAD v4 |
| 20 | g.63472329G>C | CA511339894 | KCNQ2 | c.135C>G (p.Ser45=) n.261C>G | |
| 20 | g.63472329G= | CA2374810977 | KCNQ2 | c.135C= (p.Ser45=) n.261C= | |
| 20 | g.63472329G>T | CA511339895 | KCNQ2 | c.135C>A (p.Ser45=) n.261C>A | |
| 20 | g.63472330del | CA2580098413 | KCNQ2 | c.135del (p.Glu46ArgfsTer?) n.261del | ClinVar |
| 20 | g.63472330G>A | CA409635533 | KCNQ2 | c.134C>T (p.Ser45Phe) n.260C>T | gnomAD v4 |
| 20 | g.63472330G>C | CA409635536 | KCNQ2 | c.134C>G (p.Ser45Cys) n.260C>G | |
| 20 | g.63472330G>T | CA409635539 | KCNQ2 | c.134C>A (p.Ser45Tyr) n.260C>A | |
| 20 | g.63472331A>C | CA409635540 | KCNQ2 | c.133T>G (p.Ser45Ala) n.259T>G | |
| 20 | g.63472331A>G | CA409635544 | KCNQ2 | c.133T>C (p.Ser45Pro) n.259T>C | |
| 20 | g.63472331A>T | CA409635547 | KCNQ2 | c.133T>A (p.Ser45Thr) n.259T>A | |
| 20 | g.63472332G>A | CA317423882 | KCNQ2 | c.132C>T (p.Gly44=) n.258C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63472332G>C | CA511339896 | KCNQ2 | c.132C>G (p.Gly44=) n.258C>G | |
| 20 | g.63472332G= | CA2374810978 | KCNQ2 | c.132C= (p.Gly44=) n.258C= | |
| 20 | g.63472332G>T | CA511339897 | KCNQ2 | c.132C>A (p.Gly44=) n.258C>A | gnomAD v4 |
| 20 | g.63472333C>A | CA409635557 | KCNQ2 | c.131G>T (p.Gly44Val) n.257G>T | |
| 20 | g.63472333C>G | CA409635554 | KCNQ2 | c.131G>C (p.Gly44Ala) n.257G>C | |
| 20 | g.63472333C>T | CA409635550 | KCNQ2 | c.131G>A (p.Gly44Asp) n.257G>A | gnomAD v4 |
| 20 | g.63472334C>A | CA409635565 | KCNQ2 | c.130G>T (p.Gly44Cys) n.256G>T | gnomAD v4 |
| 20 | g.63472334C>G | CA409635560 | KCNQ2 | c.130G>C (p.Gly44Arg) n.256G>C | |
| 20 | g.63472334C>T | CA409635562 | KCNQ2 | c.130G>A (p.Gly44Ser) n.256G>A | gnomAD v4 |
| 20 | g.63472335G>A | CA511339898 | KCNQ2 | c.129C>T (p.Ala43=) n.255C>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63472335G>C | CA511339899 | KCNQ2 | c.129C>G (p.Ala43=) n.255C>G | |
| 20 | g.63472335G= | CA2374810979 | KCNQ2 | c.129C= (p.Ala43=) n.255C= | |
| 20 | g.63472335G>T | CA511339900 | KCNQ2 | c.129C>A (p.Ala43=) n.255C>A | ClinVar dbSNP gnomAD v4 |
| 20 | g.63472336G>A | CA315543 | KCNQ2 | c.128C>T (p.Ala43Val) n.254C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63472336G>C | CA409635571 | KCNQ2 | c.128C>G (p.Ala43Gly) n.254C>G | |
| 20 | g.63472336G= | CA2374810980 | KCNQ2 | c.128C= (p.Ala43=) n.254C= | |
| 20 | g.63472336G>T | CA409635576 | KCNQ2 | c.128C>A (p.Ala43Asp) n.254C>A | |
| 20 | g.63472337C>A | CA409635587 | KCNQ2 | c.127G>T (p.Ala43Ser) n.253G>T | gnomAD v4 |
| 20 | g.63472337C>G | CA409635590 | KCNQ2 | c.127G>C (p.Ala43Pro) n.253G>C | |
| 20 | g.63472337C>T | CA409635593 | KCNQ2 | c.127G>A (p.Ala43Thr) n.253G>A | gnomAD v4 |
| 20 | g.63472338G>A | CA511339902 | KCNQ2 | c.126C>T (p.Ile42=) n.252C>T | gnomAD v4 |
| 20 | g.63472338G>C | CA409635595 | KCNQ2 | c.126C>G (p.Ile42Met) n.252C>G | |
| 20 | g.63472338G= | CA2374810981 | KCNQ2 | c.126C= (p.Ile42=) n.252C= | |
| 20 | g.63472338G>T | CA511339901 | KCNQ2 | c.126C>A (p.Ile42=) n.252C>A | ClinVar dbSNP gnomAD v4 |
| 20 | g.63472339A>C | CA409635599 | KCNQ2 | c.125T>G (p.Ile42Ser) n.251T>G | |
| 20 | g.63472339A>G | CA409635603 | KCNQ2 | c.125T>C (p.Ile42Thr) n.251T>C | |
| 20 | g.63472339A>T | CA409635605 | KCNQ2 | c.125T>A (p.Ile42Asn) n.251T>A | |
| 20 | g.63472340T>A | CA409635611 | KCNQ2 | c.124A>T (p.Ile42Phe) n.250A>T | |
| 20 | g.63472340T>C | CA409635613 | KCNQ2 | c.124A>G (p.Ile42Val) n.250A>G | |
| 20 | g.63472340T>G | CA409635609 | KCNQ2 | c.124A>C (p.Ile42Leu) n.250A>C | |
| 20 | g.63472341C>A | CA511339903 | KCNQ2 | c.123G>T (p.Leu41=) n.249G>T | gnomAD v4 |
| 20 | g.63472341C= | CA2374810982 | KCNQ2 | c.123G= (p.Leu41=) n.249G= | |
| 20 | g.63472341C>G | CA511339904 | KCNQ2 | c.123G>C (p.Leu41=) n.249G>C | ClinVar dbSNP gnomAD v4 |
| 20 | g.63472341C>T | CA511339905 | KCNQ2 | c.123G>A (p.Leu41=) n.249G>A | |
| 20 | g.63472342A>C | CA409635618 | KCNQ2 | c.122T>G (p.Leu41Arg) n.248T>G | |
| 20 | g.63472342A>G | CA409635620 | KCNQ2 | c.122T>C (p.Leu41Pro) n.248T>C | |
| 20 | g.63472342A>T | CA409635623 | KCNQ2 | c.122T>A (p.Leu41Gln) n.248T>A | |
| 20 | g.63472342dup | CA1139666788 | KCNQ2 | c.122dup (p.Ile42AspfsTer?) n.248dup | ClinVar dbSNP |
| 20 | g.63472343G>A | CA511339906 | KCNQ2 | c.121C>T (p.Leu41=) n.247C>T | gnomAD v4 |
| 20 | g.63472343G>C | CA409635626 | KCNQ2 | c.121C>G (p.Leu41Val) n.247C>G | |
| 20 | g.63472343G>T | CA409635630 | KCNQ2 | c.121C>A (p.Leu41Met) n.247C>A | gnomAD v4 |
| 20 | g.63472344C>A | CA511339907 | KCNQ2 | c.120G>T (p.Leu40=) n.246G>T | gnomAD v4 |
| 20 | g.63472344C>G | CA511339908 | KCNQ2 | c.120G>C (p.Leu40=) n.246G>C | |
| 20 | g.63472344C>T | CA511339909 | KCNQ2 | c.120G>A (p.Leu40=) n.246G>A | gnomAD v4 |
| 20 | g.63472344_63472345del | CA2573157303 | KCNQ2 | c.119_120del (p.Leu40ProfsTer?) n.245_246del | ClinVar dbSNP |
| 20 | g.63472345A= | CA2374810983 | KCNQ2 | c.119T= (p.Leu40=) n.245T= | |
| 20 | g.63472345A>C | CA409635638 | KCNQ2 | c.119T>G (p.Leu40Arg) n.245T>G | |
| 20 | g.63472345A>G | CA409635635 | KCNQ2 | c.119T>C (p.Leu40Pro) n.245T>C | ClinVar dbSNP gnomAD v4 |
| 20 | g.63472345A>T | CA409635636 | KCNQ2 | c.119T>A (p.Leu40Gln) n.245T>A | |
| 20 | g.63472346G>A | CA511339910 | KCNQ2 | c.118C>T (p.Leu40=) n.244C>T | |
| 20 | g.63472346G>C | CA409635640 | KCNQ2 | c.118C>G (p.Leu40Val) n.244C>G | gnomAD v4 |
| 20 | g.63472346G>T | CA409635642 | KCNQ2 | c.118C>A (p.Leu40Met) n.244C>A | gnomAD v4 |
| 20 | g.63472347C>A | CA511339911 | KCNQ2 | c.117G>T (p.Ala39=) n.243G>T | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63472347C= | CA2374810984 | KCNQ2 | c.117G= (p.Ala39=) n.243G= | |
| 20 | g.63472347C>G | CA511339912 | KCNQ2 | c.117G>C (p.Ala39=) n.243G>C | |
| 20 | g.63472347C>T | CA9958898 | KCNQ2 | c.117G>A (p.Ala39=) n.243G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.63472348G>A | CA409635645 | KCNQ2 | c.116C>T (p.Ala39Val) n.242C>T | gnomAD v4 |
| 20 | g.63472348G>C | CA409635647 | KCNQ2 | c.116C>G (p.Ala39Gly) n.242C>G | |
| 20 | g.63472348G>T | CA409635649 | KCNQ2 | c.116C>A (p.Ala39Glu) n.242C>A | gnomAD v4 |
| 20 | g.63472349C>A | CA409635657 | KCNQ2 | c.115G>T (p.Ala39Ser) n.241G>T | |
| 20 | g.63472349C>G | CA409635658 | KCNQ2 | c.115G>C (p.Ala39Pro) n.241G>C | COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63472349C>T | CA409635654 | KCNQ2 | c.115G>A (p.Ala39Thr) n.241G>A | |
| 20 | g.63472352del | CA2653817456 | KCNQ2 | c.115del (p.Ala39ArgfsTer3) n.241del | gnomAD v4 |
| 20 | g.63472350C>A | CA511339913 | KCNQ2 | c.114G>T (p.Gly38=) n.240G>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63472350C= | CA2374810985 | KCNQ2 | c.114G= (p.Gly38=) n.240G= | |
| 20 | g.63472350C>G | CA511339914 | KCNQ2 | c.114G>C (p.Gly38=) n.240G>C | |
| 20 | g.63472350C>T | CA511339915 | KCNQ2 | c.114G>A (p.Gly38=) n.240G>A | |
| 20 | g.63472351C>A | CA409635661 | KCNQ2 | c.113G>T (p.Gly38Val) n.239G>T | |
| 20 | g.63472351C>G | CA409635665 | KCNQ2 | c.113G>C (p.Gly38Ala) n.239G>C | ClinVar |
| 20 | g.63472351C>T | CA409635663 | KCNQ2 | c.113G>A (p.Gly38Glu) n.239G>A | |
| 20 | g.63472352C>A | CA409635669 | KCNQ2 | c.112G>T (p.Gly38Trp) n.238G>T | gnomAD v4 |
| 20 | g.63472352C>G | CA409635671 | KCNQ2 | c.112G>C (p.Gly38Arg) n.238G>C | ClinVar |
| 20 | g.63472352C>T | CA409635674 | KCNQ2 | c.112G>A (p.Gly38Arg) n.238G>A | |
| 20 | g.63472353G>A | CA511339916 | KCNQ2 | c.111C>T (p.Asp37=) n.237C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63472353G>C | CA409635677 | KCNQ2 | c.111C>G (p.Asp37Glu) n.237C>G | |
| 20 | g.63472353G= | CA2374810986 | KCNQ2 | c.111C= (p.Asp37=) n.237C= | |
| 20 | g.63472353G>T | CA409635680 | KCNQ2 | c.111C>A (p.Asp37Glu) n.237C>A | gnomAD v4 |
| 20 | g.63472354T>A | CA409635683 | KCNQ2 | c.110A>T (p.Asp37Val) n.236A>T | |
| 20 | g.63472354T>C | CA409635686 | KCNQ2 | c.110A>G (p.Asp37Gly) n.236A>G | |
| 20 | g.63472354T>G | CA409635688 | KCNQ2 | c.110A>C (p.Asp37Ala) n.236A>C | |
| 20 | g.63472355C>A | CA409635690 | KCNQ2 | c.109G>T (p.Asp37Tyr) n.235G>T | gnomAD v4 |
| 20 | g.63472355C>G | CA409635693 | KCNQ2 | c.109G>C (p.Asp37His) n.235G>C | |
| 20 | g.63472355C>T | CA409635696 | KCNQ2 | c.109G>A (p.Asp37Asn) n.235G>A | |
| 20 | g.63472356C>A | CA511339917 | KCNQ2 | c.108G>T (p.Arg36=) n.234G>T | gnomAD v4 |
| 20 | g.63472356C>G | CA511339918 | KCNQ2 | c.108G>C (p.Arg36=) n.234G>C | |
| 20 | g.63472356C>T | CA511339919 | KCNQ2 | c.108G>A (p.Arg36=) n.234G>A | gnomAD v4 |
| 20 | g.63472357C>A | CA409635704 | KCNQ2 | c.107G>T (p.Arg36Leu) n.233G>T | gnomAD v4 |
| 20 | g.63472357C>G | CA409635703 | KCNQ2 | c.107G>C (p.Arg36Pro) n.233G>C | |
| 20 | g.63472357C>T | CA409635700 | KCNQ2 | c.107G>A (p.Arg36Gln) n.233G>A | COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63472357_63472358delinsCG | CA2374810987 | KCNQ2 | c.106_107delinsCG (p.Arg36=) n.232_233delinsCG | |
| 20 | g.63472358G>A | CA409635706 | KCNQ2 | c.106C>T (p.Arg36Trp) n.232C>T | gnomAD v4 |
| 20 | g.63472358G>C | CA409635709 | KCNQ2 | c.106C>G (p.Arg36Gly) n.232C>G | |
| 20 | g.63472358G>T | CA511339920 | KCNQ2 | c.106C>A (p.Arg36=) n.232C>A | gnomAD v4 |
| 20 | g.63472360del | CA915953118 | KCNQ2 | c.106del (p.Arg36GlyfsTer6) n.232del | ClinVar dbSNP |
| 20 | g.63472359G>A | CA511339921 | KCNQ2 | c.105C>T (p.Thr35=) n.231C>T | ClinVar dbSNP |
| 20 | g.63472359G>C | CA511339923 | KCNQ2 | c.105C>G (p.Thr35=) n.231C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63472359G= | CA2374810988 | KCNQ2 | c.105C= (p.Thr35=) n.231C= | |
| 20 | g.63472359G>T | CA511339922 | KCNQ2 | c.105C>A (p.Thr35=) n.231C>A | gnomAD v4 |
| 20 | g.63472360G>A | CA317423897 | KCNQ2 | c.104C>T (p.Thr35Ile) n.230C>T | dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63472360G>C | CA409635714 | KCNQ2 | c.104C>G (p.Thr35Ser) n.230C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63472360G= | CA2374810989 | KCNQ2 | c.104C= (p.Thr35=) n.230C= | |
| 20 | g.63472360G>T | CA409635717 | KCNQ2 | c.104C>A (p.Thr35Asn) n.230C>A | gnomAD v4 |
| 20 | g.63472361T>A | CA409635720 | KCNQ2 | c.103A>T (p.Thr35Ser) n.229A>T | |
| 20 | g.63472361T>C | CA409635722 | KCNQ2 | c.103A>G (p.Thr35Ala) n.229A>G | gnomAD v4 |
| 20 | g.63472361T>G | CA409635724 | KCNQ2 | c.103A>C (p.Thr35Pro) n.229A>C | |
| 20 | g.63472361_63472362delinsTG | CA2374810990 | KCNQ2 | c.102_103delinsCA (p.Ser34=) n.228_229delinsCA | |
| 20 | g.63472362G>A | CA511339924 | KCNQ2 | c.102C>T (p.Ser34=) n.228C>T | gnomAD v4 |
| 20 | g.63472362G>C | CA511339925 | KCNQ2 | c.102C>G (p.Ser34=) n.228C>G | |
| 20 | g.63472362G>T | CA511339926 | KCNQ2 | c.102C>A (p.Ser34=) n.228C>A | gnomAD v4 |
| 20 | g.63472363del | CA913190655 | KCNQ2 | c.102del (p.Thr35ProfsTer7) n.228del | ClinVar dbSNP |
| 20 | g.63472363G>A | CA317423899 | KCNQ2 | c.101C>T (p.Ser34Phe) n.227C>T | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63472363G>C | CA409635729 | KCNQ2 | c.101C>G (p.Ser34Cys) n.227C>G | |
| 20 | g.63472363G= | CA2374810991 | KCNQ2 | c.101C= (p.Ser34=) n.227C= | |
| 20 | g.63472363G>T | CA409635731 | KCNQ2 | c.101C>A (p.Ser34Tyr) n.227C>A | gnomAD v4 |
| 20 | g.63472364A>C | CA409635738 | KCNQ2 | c.100T>G (p.Ser34Ala) n.226T>G | |
| 20 | g.63472364A>G | CA409635737 | KCNQ2 | c.100T>C (p.Ser34Pro) n.226T>C | gnomAD v4 |
| 20 | g.63472364A>T | CA409635734 | KCNQ2 | c.100T>A (p.Ser34Thr) n.226T>A | |
| 20 | g.63472365G>A | CA511339927 | KCNQ2 | c.99C>T (p.Asp33=) n.225C>T | |
| 20 | g.63472365G>C | CA409635742 | KCNQ2 | c.99C>G (p.Asp33Glu) n.225C>G | |
| 20 | g.63472365G>T | CA409635744 | KCNQ2 | c.99C>A (p.Asp33Glu) n.225C>A | gnomAD v4 |
| 20 | g.63472365_63472375del | CA2580098419 | KCNQ2 | c.89_99del (p.Gly30ValfsTer?) n.215_225del | ClinVar |
| 20 | g.63472366T>A | CA409635749 | KCNQ2 | c.98A>T (p.Asp33Val) n.224A>T | |
| 20 | g.63472366T>C | CA409635750 | KCNQ2 | c.98A>G (p.Asp33Gly) n.224A>G | gnomAD v4 |
| 20 | g.63472366T>G | CA409635753 | KCNQ2 | c.98A>C (p.Asp33Ala) n.224A>C | |
| 20 | g.63472367C>A | CA409635761 | KCNQ2 | c.97G>T (p.Asp33Tyr) n.223G>T | gnomAD v4 |
| 20 | g.63472367C>G | CA409635758 | KCNQ2 | c.97G>C (p.Asp33His) n.223G>C | |
| 20 | g.63472367C>T | CA409635756 | KCNQ2 | c.97G>A (p.Asp33Asn) n.223G>A | gnomAD v4 |
| 20 | g.63472368G>A | CA511339928 | KCNQ2 | c.96C>T (p.Pro32=) n.222C>T | ClinVar dbSNP gnomAD v4 |
| 20 | g.63472368G>C | CA511339929 | KCNQ2 | c.96C>G (p.Pro32=) n.222C>G | |
| 20 | g.63472368G>T | CA511339930 | KCNQ2 | c.96C>A (p.Pro32=) n.222C>A | gnomAD v4 |
| 20 | g.63472369G>A | CA409635764 | KCNQ2 | c.95C>T (p.Pro32Leu) n.221C>T | gnomAD v4 |
| 20 | g.63472369G>C | CA409635766 | KCNQ2 | c.95C>G (p.Pro32Arg) n.221C>G | |
| 20 | g.63472369G>T | CA409635767 | KCNQ2 | c.95C>A (p.Pro32His) n.221C>A | gnomAD v4 |
| 20 | g.63472370G>A | CA409635769 | KCNQ2 | c.94C>T (p.Pro32Ser) n.220C>T | gnomAD v4 |
| 20 | g.63472370G>C | CA409635772 | KCNQ2 | c.94C>G (p.Pro32Ala) n.220C>G | ClinVar |
| 20 | g.63472370G>T | CA409635775 | KCNQ2 | c.94C>A (p.Pro32Thr) n.220C>A | gnomAD v4 |
| 20 | g.63472371C>A | CA511339931 | KCNQ2 | c.93G>T (p.Ala31=) n.219G>T | gnomAD v4 |
| 20 | g.63472371C= | CA2374810992 | KCNQ2 | c.93G= (p.Ala31=) n.219G= | |
| 20 | g.63472371C>G | CA511339932 | KCNQ2 | c.93G>C (p.Ala31=) n.219G>C | dbSNP gnomAD v4 |
| 20 | g.63472371C>T | CA511339933 | KCNQ2 | c.93G>A (p.Ala31=) n.219G>A | gnomAD v4 |