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 |
|---|---|---|---|---|---|
| 8 | g.132175495T>A | CA372290384 | KCNQ3 | c.891A>T (p.Lys297Asn) c.531A>T (p.Lys177Asn) c.564A>T (p.Lys188Asn) c.541A>T n.669A>T c.528A>T (p.Lys176Asn) c.-266A>T (n.-266A>T) c.183A>T (p.Lys61Asn) c.669A>T (p.Lys223Asn) | |
| 8 | g.132175495T>C | CA4880819 | KCNQ3 | c.891A>G (p.Lys297=) c.531A>G (p.Lys177=) c.564A>G (p.Lys188=) c.541A>G n.669A>G c.528A>G (p.Lys176=) c.-266A>G (n.-266A>G) c.183A>G (p.Lys61=) c.669A>G (p.Lys223=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132175495T>G | CA372290385 | KCNQ3 | c.891A>C (p.Lys297Asn) c.531A>C (p.Lys177Asn) c.564A>C (p.Lys188Asn) c.541A>C n.669A>C c.528A>C (p.Lys176Asn) c.-266A>C (n.-266A>C) c.183A>C (p.Lys61Asn) c.669A>C (p.Lys223Asn) | |
| 8 | g.132175495T= | CA1820664531 | KCNQ3 | c.891A= (p.Lys297=) c.531A= (p.Lys177=) c.564A= (p.Lys188=) c.541A= n.669A= c.528A= (p.Lys176=) c.-266A= (n.-266A=) c.183A= (p.Lys61=) c.669A= (p.Lys223=) | |
| 8 | g.132175496T>A | CA372290386 | KCNQ3 | c.890A>T (p.Lys297Ile) c.530A>T (p.Lys177Ile) c.563A>T (p.Lys188Ile) c.540A>T n.668A>T c.527A>T (p.Lys176Ile) c.-267A>T (n.-267A>T) c.182A>T (p.Lys61Ile) c.668A>T (p.Lys223Ile) | |
| 8 | g.132175496T>C | CA372290387 | KCNQ3 | c.890A>G (p.Lys297Arg) c.530A>G (p.Lys177Arg) c.563A>G (p.Lys188Arg) c.540A>G n.668A>G c.527A>G (p.Lys176Arg) c.-267A>G (n.-267A>G) c.182A>G (p.Lys61Arg) c.668A>G (p.Lys223Arg) | |
| 8 | g.132175496T>G | CA372290388 | KCNQ3 | c.890A>C (p.Lys297Thr) c.530A>C (p.Lys177Thr) c.563A>C (p.Lys188Thr) c.540A>C n.668A>C c.527A>C (p.Lys176Thr) c.-267A>C (n.-267A>C) c.182A>C (p.Lys61Thr) c.668A>C (p.Lys223Thr) | |
| 8 | g.132175497T>A | CA372290391 | KCNQ3 | c.889A>T (p.Lys297Ter) c.529A>T (p.Lys177Ter) c.562A>T (p.Lys188Ter) c.539A>T n.667A>T c.526A>T (p.Lys176Ter) c.-268A>T (n.-268A>T) c.181A>T (p.Lys61Ter) c.667A>T (p.Lys223Ter) | |
| 8 | g.132175497T>C | CA372290390 | KCNQ3 | c.889A>G (p.Lys297Glu) c.529A>G (p.Lys177Glu) c.562A>G (p.Lys188Glu) c.539A>G n.667A>G c.526A>G (p.Lys176Glu) c.-268A>G (n.-268A>G) c.181A>G (p.Lys61Glu) c.667A>G (p.Lys223Glu) | ClinVar dbSNP gnomAD v4 |
| 8 | g.132175497T>G | CA372290389 | KCNQ3 | c.889A>C (p.Lys297Gln) c.529A>C (p.Lys177Gln) c.562A>C (p.Lys188Gln) c.539A>C n.667A>C c.526A>C (p.Lys176Gln) c.-268A>C (n.-268A>C) c.181A>C (p.Lys61Gln) c.667A>C (p.Lys223Gln) | |
| 8 | g.132175497T= | CA1820664532 | KCNQ3 | c.889A= (p.Lys297=) c.529A= (p.Lys177=) c.562A= (p.Lys188=) c.539A= n.667A= c.526A= (p.Lys176=) c.-268A= (n.-268A=) c.181A= (p.Lys61=) c.667A= (p.Lys223=) | |
| 8 | g.132175498C>A | CA372290392 | KCNQ3 | c.888G>T (p.Met296Ile) c.528G>T (p.Met176Ile) c.561G>T (p.Met187Ile) c.538G>T n.666G>T c.525G>T (p.Met175Ile) c.-269G>T (n.-269G>T) c.180G>T (p.Met60Ile) c.666G>T (p.Met222Ile) | |
| 8 | g.132175498C= | CA1820664533 | KCNQ3 | c.888G= (p.Met296=) c.528G= (p.Met176=) c.561G= (p.Met187=) c.538G= n.666G= c.525G= (p.Met175=) c.-269G= (n.-269G=) c.180G= (p.Met60=) c.666G= (p.Met222=) | |
| 8 | g.132175498C>G | CA372290393 | KCNQ3 | c.888G>C (p.Met296Ile) c.528G>C (p.Met176Ile) c.561G>C (p.Met187Ile) c.538G>C n.666G>C c.525G>C (p.Met175Ile) c.-269G>C (n.-269G>C) c.180G>C (p.Met60Ile) c.666G>C (p.Met222Ile) | |
| 8 | g.132175498C>T | CA372290394 | KCNQ3 | c.888G>A (p.Met296Ile) c.528G>A (p.Met176Ile) c.561G>A (p.Met187Ile) c.538G>A n.666G>A c.525G>A (p.Met175Ile) c.-269G>A (n.-269G>A) c.180G>A (p.Met60Ile) c.666G>A (p.Met222Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132175499A>C | CA372290395 | KCNQ3 | c.887T>G (p.Met296Arg) c.527T>G (p.Met176Arg) c.560T>G (p.Met187Arg) c.537T>G n.665T>G c.524T>G (p.Met175Arg) c.-270T>G (n.-270T>G) c.179T>G (p.Met60Arg) c.665T>G (p.Met222Arg) | gnomAD v4 |
| 8 | g.132175499A>G | CA372290396 | KCNQ3 | c.887T>C (p.Met296Thr) c.527T>C (p.Met176Thr) c.560T>C (p.Met187Thr) c.537T>C n.665T>C c.524T>C (p.Met175Thr) c.-270T>C (n.-270T>C) c.179T>C (p.Met60Thr) c.665T>C (p.Met222Thr) | |
| 8 | g.132175499A>T | CA372290397 | KCNQ3 | c.887T>A (p.Met296Lys) c.527T>A (p.Met176Lys) c.560T>A (p.Met187Lys) c.537T>A n.665T>A c.524T>A (p.Met175Lys) c.-270T>A (n.-270T>A) c.179T>A (p.Met60Lys) c.665T>A (p.Met222Lys) | |
| 8 | g.132175500T>A | CA372290400 | KCNQ3 | c.886A>T (p.Met296Leu) c.526A>T (p.Met176Leu) c.559A>T (p.Met187Leu) c.536A>T n.664A>T c.523A>T (p.Met175Leu) c.-271A>T (n.-271A>T) c.178A>T (p.Met60Leu) c.664A>T (p.Met222Leu) | gnomAD v4 |
| 8 | g.132175500T>C | CA372290398 | KCNQ3 | c.886A>G (p.Met296Val) c.526A>G (p.Met176Val) c.559A>G (p.Met187Val) c.536A>G n.664A>G c.523A>G (p.Met175Val) c.-271A>G (n.-271A>G) c.178A>G (p.Met60Val) c.664A>G (p.Met222Val) | gnomAD v4 |
| 8 | g.132175500T>G | CA372290399 | KCNQ3 | c.886A>C (p.Met296Leu) c.526A>C (p.Met176Leu) c.559A>C (p.Met187Leu) c.536A>C n.664A>C c.523A>C (p.Met175Leu) c.-271A>C (n.-271A>C) c.178A>C (p.Met60Leu) c.664A>C (p.Met222Leu) | |
| 8 | g.132175501C>A | CA4880820 | KCNQ3 | c.885G>T (p.Glu295Asp) c.525G>T (p.Glu175Asp) c.558G>T (p.Glu186Asp) c.535G>T n.663G>T c.522G>T (p.Glu174Asp) c.-272G>T (n.-272G>T) c.177G>T (p.Glu59Asp) c.663G>T (p.Glu221Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132175501C= | CA1820664534 | KCNQ3 | c.885G= (p.Glu295=) c.525G= (p.Glu175=) c.558G= (p.Glu186=) c.535G= n.663G= c.522G= (p.Glu174=) c.-272G= (n.-272G=) c.177G= (p.Glu59=) c.663G= (p.Glu221=) | |
| 8 | g.132175501C>G | CA372290401 | KCNQ3 | c.885G>C (p.Glu295Asp) c.525G>C (p.Glu175Asp) c.558G>C (p.Glu186Asp) c.535G>C n.663G>C c.522G>C (p.Glu174Asp) c.-272G>C (n.-272G>C) c.177G>C (p.Glu59Asp) c.663G>C (p.Glu221Asp) | |
| 8 | g.132175501C>T | CA463070366 | KCNQ3 | c.885G>A (p.Glu295=) c.525G>A (p.Glu175=) c.558G>A (p.Glu186=) c.535G>A n.663G>A c.522G>A (p.Glu174=) c.-272G>A (n.-272G>A) c.177G>A (p.Glu59=) c.663G>A (p.Glu221=) | |
| 8 | g.132175502T>A | CA372290402 | KCNQ3 | c.884A>T (p.Glu295Val) c.524A>T (p.Glu175Val) c.557A>T (p.Glu186Val) c.534A>T n.662A>T c.521A>T (p.Glu174Val) c.-273A>T (n.-273A>T) c.176A>T (p.Glu59Val) c.662A>T (p.Glu221Val) | gnomAD v4 |
| 8 | g.132175502T>C | CA372290403 | KCNQ3 | c.884A>G (p.Glu295Gly) c.524A>G (p.Glu175Gly) c.557A>G (p.Glu186Gly) c.534A>G n.662A>G c.521A>G (p.Glu174Gly) c.-273A>G (n.-273A>G) c.176A>G (p.Glu59Gly) c.662A>G (p.Glu221Gly) | |
| 8 | g.132175502T>G | CA372290404 | KCNQ3 | c.884A>C (p.Glu295Ala) c.524A>C (p.Glu175Ala) c.557A>C (p.Glu186Ala) c.534A>C n.662A>C c.521A>C (p.Glu174Ala) c.-273A>C (n.-273A>C) c.176A>C (p.Glu59Ala) c.662A>C (p.Glu221Ala) | |
| 8 | g.132175503C>A | CA372290405 | KCNQ3 | c.883G>T (p.Glu295Ter) c.523G>T (p.Glu175Ter) c.556G>T (p.Glu186Ter) c.533G>T n.661G>T c.520G>T (p.Glu174Ter) c.-274G>T (n.-274G>T) c.175G>T (p.Glu59Ter) c.661G>T (p.Glu221Ter) | |
| 8 | g.132175503C= | CA1820664535 | KCNQ3 | c.883G= (p.Glu295=) c.523G= (p.Glu175=) c.556G= (p.Glu186=) c.533G= n.661G= c.520G= (p.Glu174=) c.-274G= (n.-274G=) c.175G= (p.Glu59=) c.661G= (p.Glu221=) | |
| 8 | g.132175503C>G | CA4880821 | KCNQ3 | c.883G>C (p.Glu295Gln) c.523G>C (p.Glu175Gln) c.556G>C (p.Glu186Gln) c.533G>C n.661G>C c.520G>C (p.Glu174Gln) c.-274G>C (n.-274G>C) c.175G>C (p.Glu59Gln) c.661G>C (p.Glu221Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132175503C>T | CA372290406 | KCNQ3 | c.883G>A (p.Glu295Lys) c.523G>A (p.Glu175Lys) c.556G>A (p.Glu186Lys) c.533G>A n.661G>A c.520G>A (p.Glu174Lys) c.-274G>A (n.-274G>A) c.175G>A (p.Glu59Lys) c.661G>A (p.Glu221Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.132175504del | CA2688627392 | KCNQ3 | c.883del (p.Glu295ArgfsTer2) c.523del (p.Glu175ArgfsTer2) c.556del (p.Glu186ArgfsTer2) c.533del n.661del c.520del (p.Glu174ArgfsTer2) c.-274del (n.-274del) c.175del (p.Glu59ArgfsTer2) c.661del (p.Glu221ArgfsTer2) | gnomAD v4 |
| 8 | g.132175504C>A | CA372290407 | KCNQ3 | c.882G>T (p.Glu294Asp) c.522G>T (p.Glu174Asp) c.555G>T (p.Glu185Asp) c.532G>T n.660G>T c.519G>T (p.Glu173Asp) c.-275G>T (n.-275G>T) c.174G>T (p.Glu58Asp) c.660G>T (p.Glu220Asp) | |
| 8 | g.132175504C>G | CA372290408 | KCNQ3 | c.882G>C (p.Glu294Asp) c.522G>C (p.Glu174Asp) c.555G>C (p.Glu185Asp) c.532G>C n.660G>C c.519G>C (p.Glu173Asp) c.-275G>C (n.-275G>C) c.174G>C (p.Glu58Asp) c.660G>C (p.Glu220Asp) | |
| 8 | g.132175504C>T | CA463070367 | KCNQ3 | c.882G>A (p.Glu294=) c.522G>A (p.Glu174=) c.555G>A (p.Glu185=) c.532G>A n.660G>A c.519G>A (p.Glu173=) c.-275G>A (n.-275G>A) c.174G>A (p.Glu58=) c.660G>A (p.Glu220=) | gnomAD v4 |
| 8 | g.132175505T>A | CA372290409 | KCNQ3 | c.881A>T (p.Glu294Val) c.521A>T (p.Glu174Val) c.554A>T (p.Glu185Val) c.531A>T n.659A>T c.518A>T (p.Glu173Val) c.-276A>T (n.-276A>T) c.173A>T (p.Glu58Val) c.659A>T (p.Glu220Val) | |
| 8 | g.132175505T>C | CA372290410 | KCNQ3 | c.881A>G (p.Glu294Gly) c.521A>G (p.Glu174Gly) c.554A>G (p.Glu185Gly) c.531A>G n.659A>G c.518A>G (p.Glu173Gly) c.-276A>G (n.-276A>G) c.173A>G (p.Glu58Gly) c.659A>G (p.Glu220Gly) | |
| 8 | g.132175505T>G | CA372290411 | KCNQ3 | c.881A>C (p.Glu294Ala) c.521A>C (p.Glu174Ala) c.554A>C (p.Glu185Ala) c.531A>C n.659A>C c.518A>C (p.Glu173Ala) c.-276A>C (n.-276A>C) c.173A>C (p.Glu58Ala) c.659A>C (p.Glu220Ala) | |
| 8 | g.132175506C>A | CA372290412 | KCNQ3 | c.880G>T (p.Glu294Ter) c.520G>T (p.Glu174Ter) c.553G>T (p.Glu185Ter) c.530G>T n.658G>T c.517G>T (p.Glu173Ter) c.-277G>T (n.-277G>T) c.172G>T (p.Glu58Ter) c.658G>T (p.Glu220Ter) | |
| 8 | g.132175506C>G | CA372290413 | KCNQ3 | c.880G>C (p.Glu294Gln) c.520G>C (p.Glu174Gln) c.553G>C (p.Glu185Gln) c.530G>C n.658G>C c.517G>C (p.Glu173Gln) c.-277G>C (n.-277G>C) c.172G>C (p.Glu58Gln) c.658G>C (p.Glu220Gln) | |
| 8 | g.132175506C>T | CA372290414 | KCNQ3 | c.880G>A (p.Glu294Lys) c.520G>A (p.Glu174Lys) c.553G>A (p.Glu185Lys) c.530G>A n.658G>A c.517G>A (p.Glu173Lys) c.-277G>A (n.-277G>A) c.172G>A (p.Glu58Lys) c.658G>A (p.Glu220Lys) | gnomAD v4 |
| 8 | g.132175507T>A | CA463070370 | KCNQ3 | c.879A>T (p.Gly293=) c.519A>T (p.Gly173=) c.552A>T (p.Gly184=) c.529A>T n.657A>T c.516A>T (p.Gly172=) c.-278A>T (n.-278A>T) c.171A>T (p.Gly57=) c.657A>T (p.Gly219=) | |
| 8 | g.132175507T>C | CA463070369 | KCNQ3 | c.879A>G (p.Gly293=) c.519A>G (p.Gly173=) c.552A>G (p.Gly184=) c.529A>G n.657A>G c.516A>G (p.Gly172=) c.-278A>G (n.-278A>G) c.171A>G (p.Gly57=) c.657A>G (p.Gly219=) | COSMIC |
| 8 | g.132175507T>G | CA463070368 | KCNQ3 | c.879A>C (p.Gly293=) c.519A>C (p.Gly173=) c.552A>C (p.Gly184=) c.529A>C n.657A>C c.516A>C (p.Gly172=) c.-278A>C (n.-278A>C) c.171A>C (p.Gly57=) c.657A>C (p.Gly219=) | |
| 8 | g.132175508C>A | CA372290415 | KCNQ3 | c.878G>T (p.Gly293Val) c.518G>T (p.Gly173Val) c.551G>T (p.Gly184Val) c.528G>T n.656G>T c.515G>T (p.Gly172Val) c.-279G>T (n.-279G>T) c.170G>T (p.Gly57Val) c.656G>T (p.Gly219Val) | ClinVar dbSNP gnomAD v4 |
| 8 | g.132175508C= | CA1820664536 | KCNQ3 | c.878G= (p.Gly293=) c.518G= (p.Gly173=) c.551G= (p.Gly184=) c.528G= n.656G= c.515G= (p.Gly172=) c.-279G= (n.-279G=) c.170G= (p.Gly57=) c.656G= (p.Gly219=) | |
| 8 | g.132175508C>G | CA372290416 | KCNQ3 | c.878G>C (p.Gly293Ala) c.518G>C (p.Gly173Ala) c.551G>C (p.Gly184Ala) c.528G>C n.656G>C c.515G>C (p.Gly172Ala) c.-279G>C (n.-279G>C) c.170G>C (p.Gly57Ala) c.656G>C (p.Gly219Ala) | |
| 8 | g.132175508C>T | CA16618601 | KCNQ3 | c.878G>A (p.Gly293Glu) c.518G>A (p.Gly173Glu) c.551G>A (p.Gly184Glu) c.528G>A n.656G>A c.515G>A (p.Gly172Glu) c.-279G>A (n.-279G>A) c.170G>A (p.Gly57Glu) c.656G>A (p.Gly219Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132175509C>A | CA372290419 | KCNQ3 | c.877G>T (p.Gly293Ter) c.517G>T (p.Gly173Ter) c.550G>T (p.Gly184Ter) c.527G>T n.655G>T c.514G>T (p.Gly172Ter) c.-280G>T (n.-280G>T) c.169G>T (p.Gly57Ter) c.655G>T (p.Gly219Ter) | |
| 8 | g.132175509C>G | CA372290418 | KCNQ3 | c.877G>C (p.Gly293Arg) c.517G>C (p.Gly173Arg) c.550G>C (p.Gly184Arg) c.527G>C n.655G>C c.514G>C (p.Gly172Arg) c.-280G>C (n.-280G>C) c.169G>C (p.Gly57Arg) c.655G>C (p.Gly219Arg) | |
| 8 | g.132175509C>T | CA372290417 | KCNQ3 | c.877G>A (p.Gly293Arg) c.517G>A (p.Gly173Arg) c.550G>A (p.Gly184Arg) c.527G>A n.655G>A c.514G>A (p.Gly172Arg) c.-280G>A (n.-280G>A) c.169G>A (p.Gly57Arg) c.655G>A (p.Gly219Arg) | gnomAD v4 COSMIC |
| 8 | g.132175510T>A | CA372290420 | KCNQ3 | c.876A>T (p.Gln292His) c.516A>T (p.Gln172His) c.549A>T (p.Gln183His) c.526A>T n.654A>T c.513A>T (p.Gln171His) c.-281A>T (n.-281A>T) c.168A>T (p.Gln56His) c.654A>T (p.Gln218His) | |
| 8 | g.132175510T>C | CA463070371 | KCNQ3 | c.876A>G (p.Gln292=) c.516A>G (p.Gln172=) c.549A>G (p.Gln183=) c.526A>G n.654A>G c.513A>G (p.Gln171=) c.-281A>G (n.-281A>G) c.168A>G (p.Gln56=) c.654A>G (p.Gln218=) | |
| 8 | g.132175510T>G | CA372290421 | KCNQ3 | c.876A>C (p.Gln292His) c.516A>C (p.Gln172His) c.549A>C (p.Gln183His) c.526A>C n.654A>C c.513A>C (p.Gln171His) c.-281A>C (n.-281A>C) c.168A>C (p.Gln56His) c.654A>C (p.Gln218His) | |
| 8 | g.132175511T>A | CA372290422 | KCNQ3 | c.875A>T (p.Gln292Leu) c.515A>T (p.Gln172Leu) c.548A>T (p.Gln183Leu) c.525A>T n.653A>T c.512A>T (p.Gln171Leu) c.-282A>T (n.-282A>T) c.167A>T (p.Gln56Leu) c.653A>T (p.Gln218Leu) | |
| 8 | g.132175511T>C | CA372290424 | KCNQ3 | c.875A>G (p.Gln292Arg) c.515A>G (p.Gln172Arg) c.548A>G (p.Gln183Arg) c.525A>G n.653A>G c.512A>G (p.Gln171Arg) c.-282A>G (n.-282A>G) c.167A>G (p.Gln56Arg) c.653A>G (p.Gln218Arg) | |
| 8 | g.132175511T>G | CA372290423 | KCNQ3 | c.875A>C (p.Gln292Pro) c.515A>C (p.Gln172Pro) c.548A>C (p.Gln183Pro) c.525A>C n.653A>C c.512A>C (p.Gln171Pro) c.-282A>C (n.-282A>C) c.167A>C (p.Gln56Pro) c.653A>C (p.Gln218Pro) | |
| 8 | g.132175512G>A | CA372290425 | KCNQ3 | c.874C>T (p.Gln292Ter) c.514C>T (p.Gln172Ter) c.547C>T (p.Gln183Ter) c.524C>T n.652C>T c.511C>T (p.Gln171Ter) c.-283C>T (n.-283C>T) c.166C>T (p.Gln56Ter) c.652C>T (p.Gln218Ter) | |
| 8 | g.132175512G>C | CA372290427 | KCNQ3 | c.874C>G (p.Gln292Glu) c.514C>G (p.Gln172Glu) c.547C>G (p.Gln183Glu) c.524C>G n.652C>G c.511C>G (p.Gln171Glu) c.-283C>G (n.-283C>G) c.166C>G (p.Gln56Glu) c.652C>G (p.Gln218Glu) | |
| 8 | g.132175512G>T | CA372290426 | KCNQ3 | c.874C>A (p.Gln292Lys) c.514C>A (p.Gln172Lys) c.547C>A (p.Gln183Lys) c.524C>A n.652C>A c.511C>A (p.Gln171Lys) c.-283C>A (n.-283C>A) c.166C>A (p.Gln56Lys) c.652C>A (p.Gln218Lys) | gnomAD v4 |
| 8 | g.132175513T>A | CA463070372 | KCNQ3 | c.873A>T (p.Ala291=) c.513A>T (p.Ala171=) c.546A>T (p.Ala182=) c.523A>T n.651A>T c.510A>T (p.Ala170=) c.-284A>T (n.-284A>T) c.165A>T (p.Ala55=) c.651A>T (p.Ala217=) | |
| 8 | g.132175513T>C | CA463070373 | KCNQ3 | c.873A>G (p.Ala291=) c.513A>G (p.Ala171=) c.546A>G (p.Ala182=) c.523A>G n.651A>G c.510A>G (p.Ala170=) c.-284A>G (n.-284A>G) c.165A>G (p.Ala55=) c.651A>G (p.Ala217=) | |
| 8 | g.132175513T>G | CA463070374 | KCNQ3 | c.873A>C (p.Ala291=) c.513A>C (p.Ala171=) c.546A>C (p.Ala182=) c.523A>C n.651A>C c.510A>C (p.Ala170=) c.-284A>C (n.-284A>C) c.165A>C (p.Ala55=) c.651A>C (p.Ala217=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132175513T= | CA1820664537 | KCNQ3 | c.873A= (p.Ala291=) c.513A= (p.Ala171=) c.546A= (p.Ala182=) c.523A= n.651A= c.510A= (p.Ala170=) c.-284A= (n.-284A=) c.165A= (p.Ala55=) c.651A= (p.Ala217=) | |
| 8 | g.132175514G>A | CA372290428 | KCNQ3 | c.872C>T (p.Ala291Val) c.512C>T (p.Ala171Val) c.545C>T (p.Ala182Val) c.522C>T n.650C>T c.509C>T (p.Ala170Val) c.-285C>T (n.-285C>T) c.164C>T (p.Ala55Val) c.650C>T (p.Ala217Val) | |
| 8 | g.132175514G>C | CA372290430 | KCNQ3 | c.872C>G (p.Ala291Gly) c.512C>G (p.Ala171Gly) c.545C>G (p.Ala182Gly) c.522C>G n.650C>G c.509C>G (p.Ala170Gly) c.-285C>G (n.-285C>G) c.164C>G (p.Ala55Gly) c.650C>G (p.Ala217Gly) | |
| 8 | g.132175514G>T | CA372290429 | KCNQ3 | c.872C>A (p.Ala291Glu) c.512C>A (p.Ala171Glu) c.545C>A (p.Ala182Glu) c.522C>A n.650C>A c.509C>A (p.Ala170Glu) c.-285C>A (n.-285C>A) c.164C>A (p.Ala55Glu) c.650C>A (p.Ala217Glu) | |
| 8 | g.132175515C>A | CA372290431 | KCNQ3 | c.871G>T (p.Ala291Ser) c.511G>T (p.Ala171Ser) c.544G>T (p.Ala182Ser) c.521G>T n.649G>T c.508G>T (p.Ala170Ser) c.-286G>T (n.-286G>T) c.163G>T (p.Ala55Ser) c.649G>T (p.Ala217Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132175515C= | CA1820664538 | KCNQ3 | c.871G= (p.Ala291=) c.511G= (p.Ala171=) c.544G= (p.Ala182=) c.521G= n.649G= c.508G= (p.Ala170=) c.-286G= (n.-286G=) c.163G= (p.Ala55=) c.649G= (p.Ala217=) | |
| 8 | g.132175515C>G | CA372290432 | KCNQ3 | c.871G>C (p.Ala291Pro) c.511G>C (p.Ala171Pro) c.544G>C (p.Ala182Pro) c.521G>C n.649G>C c.508G>C (p.Ala170Pro) c.-286G>C (n.-286G>C) c.163G>C (p.Ala55Pro) c.649G>C (p.Ala217Pro) | |
| 8 | g.132175515C>T | CA372290433 | KCNQ3 | c.871G>A (p.Ala291Thr) c.511G>A (p.Ala171Thr) c.544G>A (p.Ala182Thr) c.521G>A n.649G>A c.508G>A (p.Ala170Thr) c.-286G>A (n.-286G>A) c.163G>A (p.Ala55Thr) c.649G>A (p.Ala217Thr) | gnomAD v4 |
| 8 | g.132175516A= | CA1820664539 | KCNQ3 | c.870T= (p.Asp290=) c.510T= (p.Asp170=) c.543T= (p.Asp181=) c.520T= n.648T= c.507T= (p.Asp169=) c.-287T= (n.-287T=) c.162T= (p.Asp54=) c.648T= (p.Asp216=) | |
| 8 | g.132175516A>C | CA4880822 | KCNQ3 | c.870T>G (p.Asp290Glu) c.510T>G (p.Asp170Glu) c.543T>G (p.Asp181Glu) c.520T>G n.648T>G c.507T>G (p.Asp169Glu) c.-287T>G (n.-287T>G) c.162T>G (p.Asp54Glu) c.648T>G (p.Asp216Glu) | dbSNP ExAC gnomAD v4 |
| 8 | g.132175516A>G | CA463070375 | KCNQ3 | c.870T>C (p.Asp290=) c.510T>C (p.Asp170=) c.543T>C (p.Asp181=) c.520T>C n.648T>C c.507T>C (p.Asp169=) c.-287T>C (n.-287T>C) c.162T>C (p.Asp54=) c.648T>C (p.Asp216=) | gnomAD v4 |
| 8 | g.132175516A>T | CA372290434 | KCNQ3 | c.870T>A (p.Asp290Glu) c.510T>A (p.Asp170Glu) c.543T>A (p.Asp181Glu) c.520T>A n.648T>A c.507T>A (p.Asp169Glu) c.-287T>A (n.-287T>A) c.162T>A (p.Asp54Glu) c.648T>A (p.Asp216Glu) | |
| 8 | g.132175517T>A | CA372290435 | KCNQ3 | c.869A>T (p.Asp290Val) c.509A>T (p.Asp170Val) c.542A>T (p.Asp181Val) c.519A>T n.647A>T c.506A>T (p.Asp169Val) c.-288A>T (n.-288A>T) c.161A>T (p.Asp54Val) c.647A>T (p.Asp216Val) | |
| 8 | g.132175517T>C | CA372290436 | KCNQ3 | c.869A>G (p.Asp290Gly) c.509A>G (p.Asp170Gly) c.542A>G (p.Asp181Gly) c.519A>G n.647A>G c.506A>G (p.Asp169Gly) c.-288A>G (n.-288A>G) c.161A>G (p.Asp54Gly) c.647A>G (p.Asp216Gly) | |
| 8 | g.132175517T>G | CA372290437 | KCNQ3 | c.869A>C (p.Asp290Ala) c.509A>C (p.Asp170Ala) c.542A>C (p.Asp181Ala) c.519A>C n.647A>C c.506A>C (p.Asp169Ala) c.-288A>C (n.-288A>C) c.161A>C (p.Asp54Ala) c.647A>C (p.Asp216Ala) | |
| 8 | g.132175518C>A | CA372290438 | KCNQ3 | c.868G>T (p.Asp290Tyr) c.508G>T (p.Asp170Tyr) c.541G>T (p.Asp181Tyr) c.518G>T n.646G>T c.505G>T (p.Asp169Tyr) c.-289G>T (n.-289G>T) c.160G>T (p.Asp54Tyr) c.646G>T (p.Asp216Tyr) | |
| 8 | g.132175518C>G | CA372290439 | KCNQ3 | c.868G>C (p.Asp290His) c.508G>C (p.Asp170His) c.541G>C (p.Asp181His) c.518G>C n.646G>C c.505G>C (p.Asp169His) c.-289G>C (n.-289G>C) c.160G>C (p.Asp54His) c.646G>C (p.Asp216His) | |
| 8 | g.132175518C>T | CA372290440 | KCNQ3 | c.868G>A (p.Asp290Asn) c.508G>A (p.Asp170Asn) c.541G>A (p.Asp181Asn) c.518G>A n.646G>A c.505G>A (p.Asp169Asn) c.-289G>A (n.-289G>A) c.160G>A (p.Asp54Asn) c.646G>A (p.Asp216Asn) | COSMIC |
| 8 | g.132175519C>A | CA463070377 | KCNQ3 | c.867G>T (p.Val289=) c.507G>T (p.Val169=) c.540G>T (p.Val180=) c.517G>T n.645G>T c.504G>T (p.Val168=) c.-290G>T (n.-290G>T) c.159G>T (p.Val53=) c.645G>T (p.Val215=) | |
| 8 | g.132175519C= | CA1820664540 | KCNQ3 | c.867G= (p.Val289=) c.507G= (p.Val169=) c.540G= (p.Val180=) c.517G= n.645G= c.504G= (p.Val168=) c.-290G= (n.-290G=) c.159G= (p.Val53=) c.645G= (p.Val215=) | |
| 8 | g.132175519C>G | CA463070378 | KCNQ3 | c.867G>C (p.Val289=) c.507G>C (p.Val169=) c.540G>C (p.Val180=) c.517G>C n.645G>C c.504G>C (p.Val168=) c.-290G>C (n.-290G>C) c.159G>C (p.Val53=) c.645G>C (p.Val215=) | |
| 8 | g.132175519C>T | CA4880823 | KCNQ3 | c.867G>A (p.Val289=) c.507G>A (p.Val169=) c.540G>A (p.Val180=) c.517G>A n.645G>A c.504G>A (p.Val168=) c.-290G>A (n.-290G>A) c.159G>A (p.Val53=) c.645G>A (p.Val215=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132175520A>C | CA372290441 | KCNQ3 | c.866T>G (p.Val289Gly) c.506T>G (p.Val169Gly) c.539T>G (p.Val180Gly) c.516T>G n.644T>G c.503T>G (p.Val168Gly) c.-291T>G (n.-291T>G) c.158T>G (p.Val53Gly) c.644T>G (p.Val215Gly) | |
| 8 | g.132175520A>G | CA372290442 | KCNQ3 | c.866T>C (p.Val289Ala) c.506T>C (p.Val169Ala) c.539T>C (p.Val180Ala) c.516T>C n.644T>C c.503T>C (p.Val168Ala) c.-291T>C (n.-291T>C) c.158T>C (p.Val53Ala) c.644T>C (p.Val215Ala) | |
| 8 | g.132175520A>T | CA372290443 | KCNQ3 | c.866T>A (p.Val289Glu) c.506T>A (p.Val169Glu) c.539T>A (p.Val180Glu) c.516T>A n.644T>A c.503T>A (p.Val168Glu) c.-291T>A (n.-291T>A) c.158T>A (p.Val53Glu) c.644T>A (p.Val215Glu) | |
| 8 | g.132175521C>A | CA372290444 | KCNQ3 | c.865G>T (p.Val289Leu) c.505G>T (p.Val169Leu) c.538G>T (p.Val180Leu) c.515G>T n.643G>T c.502G>T (p.Val168Leu) c.-292G>T (n.-292G>T) c.157G>T (p.Val53Leu) c.643G>T (p.Val215Leu) | |
| 8 | g.132175521C= | CA1820664541 | KCNQ3 | c.865G= (p.Val289=) c.505G= (p.Val169=) c.538G= (p.Val180=) c.515G= n.643G= c.502G= (p.Val168=) c.-292G= (n.-292G=) c.157G= (p.Val53=) c.643G= (p.Val215=) | |
| 8 | g.132175521C>G | CA372290445 | KCNQ3 | c.865G>C (p.Val289Leu) c.505G>C (p.Val169Leu) c.538G>C (p.Val180Leu) c.515G>C n.643G>C c.502G>C (p.Val168Leu) c.-292G>C (n.-292G>C) c.157G>C (p.Val53Leu) c.643G>C (p.Val215Leu) | |
| 8 | g.132175521C>T | CA4880824 | KCNQ3 | c.865G>A (p.Val289Met) c.505G>A (p.Val169Met) c.538G>A (p.Val180Met) c.515G>A n.643G>A c.502G>A (p.Val168Met) c.-292G>A (n.-292G>A) c.157G>A (p.Val53Met) c.643G>A (p.Val215Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132175522C>A | CA372290446 | KCNQ3 | c.864G>T (p.Glu288Asp) c.504G>T (p.Glu168Asp) c.537G>T (p.Glu179Asp) c.514G>T n.642G>T c.501G>T (p.Glu167Asp) c.-293G>T (n.-293G>T) c.156G>T (p.Glu52Asp) c.642G>T (p.Glu214Asp) | |
| 8 | g.132175522C>G | CA372290447 | KCNQ3 | c.864G>C (p.Glu288Asp) c.504G>C (p.Glu168Asp) c.537G>C (p.Glu179Asp) c.514G>C n.642G>C c.501G>C (p.Glu167Asp) c.-293G>C (n.-293G>C) c.156G>C (p.Glu52Asp) c.642G>C (p.Glu214Asp) | |
| 8 | g.132175522C>T | CA463070379 | KCNQ3 | c.864G>A (p.Glu288=) c.504G>A (p.Glu168=) c.537G>A (p.Glu179=) c.514G>A n.642G>A c.501G>A (p.Glu167=) c.-293G>A (n.-293G>A) c.156G>A (p.Glu52=) c.642G>A (p.Glu214=) | gnomAD v4 |
| 8 | g.132175523T>A | CA372290449 | KCNQ3 | c.863A>T (p.Glu288Val) c.503A>T (p.Glu168Val) c.536A>T (p.Glu179Val) c.513A>T n.641A>T c.500A>T (p.Glu167Val) c.-294A>T (n.-294A>T) c.155A>T (p.Glu52Val) c.641A>T (p.Glu214Val) | |
| 8 | g.132175523T>C | CA372290450 | KCNQ3 | c.863A>G (p.Glu288Gly) c.503A>G (p.Glu168Gly) c.536A>G (p.Glu179Gly) c.513A>G n.641A>G c.500A>G (p.Glu167Gly) c.-294A>G (n.-294A>G) c.155A>G (p.Glu52Gly) c.641A>G (p.Glu214Gly) | |
| 8 | g.132175523T>G | CA372290451 | KCNQ3 | c.863A>C (p.Glu288Ala) c.503A>C (p.Glu168Ala) c.536A>C (p.Glu179Ala) c.513A>C n.641A>C c.500A>C (p.Glu167Ala) c.-294A>C (n.-294A>C) c.155A>C (p.Glu52Ala) c.641A>C (p.Glu214Ala) | dbSNP gnomAD v4 |
| 8 | g.132175523T= | CA1820664542 | KCNQ3 | c.863A= (p.Glu288=) c.503A= (p.Glu168=) c.536A= (p.Glu179=) c.513A= n.641A= c.500A= (p.Glu167=) c.-294A= (n.-294A=) c.155A= (p.Glu52=) c.641A= (p.Glu214=) | |
| 8 | g.132175524C>A | CA372290452 | KCNQ3 | c.862G>T (p.Glu288Ter) c.502G>T (p.Glu168Ter) c.535G>T (p.Glu179Ter) c.512G>T n.640G>T c.499G>T (p.Glu167Ter) c.-295G>T (n.-295G>T) c.154G>T (p.Glu52Ter) c.640G>T (p.Glu214Ter) | |
| 8 | g.132175524C= | CA1820664543 | KCNQ3 | c.862G= (p.Glu288=) c.502G= (p.Glu168=) c.535G= (p.Glu179=) c.512G= n.640G= c.499G= (p.Glu167=) c.-295G= (n.-295G=) c.154G= (p.Glu52=) c.640G= (p.Glu214=) | |
| 8 | g.132175524C>G | CA372290453 | KCNQ3 | c.862G>C (p.Glu288Gln) c.502G>C (p.Glu168Gln) c.535G>C (p.Glu179Gln) c.512G>C n.640G>C c.499G>C (p.Glu167Gln) c.-295G>C (n.-295G>C) c.154G>C (p.Glu52Gln) c.640G>C (p.Glu214Gln) | |
| 8 | g.132175524C>T | CA4880825 | KCNQ3 | c.862G>A (p.Glu288Lys) c.502G>A (p.Glu168Lys) c.535G>A (p.Glu179Lys) c.512G>A n.640G>A c.499G>A (p.Glu167Lys) c.-295G>A (n.-295G>A) c.154G>A (p.Glu52Lys) c.640G>A (p.Glu214Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132175525T>A | CA463070381 | KCNQ3 | c.861A>T (p.Pro287=) c.501A>T (p.Pro167=) c.534A>T (p.Pro178=) c.511A>T n.639A>T c.498A>T (p.Pro166=) c.-296A>T (n.-296A>T) c.153A>T (p.Pro51=) c.639A>T (p.Pro213=) | gnomAD v4 |
| 8 | g.132175525T>C | CA463070382 | KCNQ3 | c.861A>G (p.Pro287=) c.501A>G (p.Pro167=) c.534A>G (p.Pro178=) c.511A>G n.639A>G c.498A>G (p.Pro166=) c.-296A>G (n.-296A>G) c.153A>G (p.Pro51=) c.639A>G (p.Pro213=) | |
| 8 | g.132175525T>G | CA463070380 | KCNQ3 | c.861A>C (p.Pro287=) c.501A>C (p.Pro167=) c.534A>C (p.Pro178=) c.511A>C n.639A>C c.498A>C (p.Pro166=) c.-296A>C (n.-296A>C) c.153A>C (p.Pro51=) c.639A>C (p.Pro213=) | |
| 8 | g.132175526G>A | CA16612208 | KCNQ3 | c.860C>T (p.Pro287Leu) c.500C>T (p.Pro167Leu) c.533C>T (p.Pro178Leu) c.510C>T n.638C>T c.497C>T (p.Pro166Leu) c.-297C>T (n.-297C>T) c.152C>T (p.Pro51Leu) c.638C>T (p.Pro213Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132175526G>C | CA372290454 | KCNQ3 | c.860C>G (p.Pro287Arg) c.500C>G (p.Pro167Arg) c.533C>G (p.Pro178Arg) c.510C>G n.638C>G c.497C>G (p.Pro166Arg) c.-297C>G (n.-297C>G) c.152C>G (p.Pro51Arg) c.638C>G (p.Pro213Arg) | |
| 8 | g.132175526G= | CA1820664544 | KCNQ3 | c.860C= (p.Pro287=) c.500C= (p.Pro167=) c.533C= (p.Pro178=) c.510C= n.638C= c.497C= (p.Pro166=) c.-297C= (n.-297C=) c.152C= (p.Pro51=) c.638C= (p.Pro213=) | |
| 8 | g.132175526G>T | CA372290455 | KCNQ3 | c.860C>A (p.Pro287Gln) c.500C>A (p.Pro167Gln) c.533C>A (p.Pro178Gln) c.510C>A n.638C>A c.497C>A (p.Pro166Gln) c.-297C>A (n.-297C>A) c.152C>A (p.Pro51Gln) c.638C>A (p.Pro213Gln) | |
| 8 | g.132175527G>A | CA372290456 | KCNQ3 | c.859C>T (p.Pro287Ser) c.499C>T (p.Pro167Ser) c.532C>T (p.Pro178Ser) c.509C>T n.637C>T c.496C>T (p.Pro166Ser) c.-298C>T (n.-298C>T) c.151C>T (p.Pro51Ser) c.637C>T (p.Pro213Ser) | |
| 8 | g.132175527G>C | CA372290457 | KCNQ3 | c.859C>G (p.Pro287Ala) c.499C>G (p.Pro167Ala) c.532C>G (p.Pro178Ala) c.509C>G n.637C>G c.496C>G (p.Pro166Ala) c.-298C>G (n.-298C>G) c.151C>G (p.Pro51Ala) c.637C>G (p.Pro213Ala) | |
| 8 | g.132175527G>T | CA372290458 | KCNQ3 | c.859C>A (p.Pro287Thr) c.499C>A (p.Pro167Thr) c.532C>A (p.Pro178Thr) c.509C>A n.637C>A c.496C>A (p.Pro166Thr) c.-298C>A (n.-298C>A) c.151C>A (p.Pro51Thr) c.637C>A (p.Pro213Thr) | |
| 8 | g.132175528G>A | CA463070383 | KCNQ3 | c.858C>T (p.Val286=) c.498C>T (p.Val166=) c.531C>T (p.Val177=) c.508C>T n.636C>T c.495C>T (p.Val165=) c.-299C>T (n.-299C>T) c.150C>T (p.Val50=) c.636C>T (p.Val212=) | dbSNP |
| 8 | g.132175528G>C | CA463070384 | KCNQ3 | c.858C>G (p.Val286=) c.498C>G (p.Val166=) c.531C>G (p.Val177=) c.508C>G n.636C>G c.495C>G (p.Val165=) c.-299C>G (n.-299C>G) c.150C>G (p.Val50=) c.636C>G (p.Val212=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132175528G= | CA1820664545 | KCNQ3 | c.858C= (p.Val286=) c.498C= (p.Val166=) c.531C= (p.Val177=) c.508C= n.636C= c.495C= (p.Val165=) c.-299C= (n.-299C=) c.150C= (p.Val50=) c.636C= (p.Val212=) | |
| 8 | g.132175528G>T | CA4880826 | KCNQ3 | c.858C>A (p.Val286=) c.498C>A (p.Val166=) c.531C>A (p.Val177=) c.508C>A n.636C>A c.495C>A (p.Val165=) c.-299C>A (n.-299C>A) c.150C>A (p.Val50=) c.636C>A (p.Val212=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132175529A>C | CA372290459 | KCNQ3 | c.857T>G (p.Val286Gly) c.497T>G (p.Val166Gly) c.530T>G (p.Val177Gly) c.507T>G n.635T>G c.494T>G (p.Val165Gly) c.-300T>G (n.-300T>G) c.149T>G (p.Val50Gly) c.635T>G (p.Val212Gly) | |
| 8 | g.132175529A>G | CA372290460 | KCNQ3 | c.857T>C (p.Val286Ala) c.497T>C (p.Val166Ala) c.530T>C (p.Val177Ala) c.507T>C n.635T>C c.494T>C (p.Val165Ala) c.-300T>C (n.-300T>C) c.149T>C (p.Val50Ala) c.635T>C (p.Val212Ala) | |
| 8 | g.132175529A>T | CA372290461 | KCNQ3 | c.857T>A (p.Val286Asp) c.497T>A (p.Val166Asp) c.530T>A (p.Val177Asp) c.507T>A n.635T>A c.494T>A (p.Val165Asp) c.-300T>A (n.-300T>A) c.149T>A (p.Val50Asp) c.635T>A (p.Val212Asp) | |
| 8 | g.132175530C>A | CA4880827 | KCNQ3 | c.856G>T (p.Val286Phe) c.496G>T (p.Val166Phe) c.529G>T (p.Val177Phe) c.506G>T n.634G>T c.493G>T (p.Val165Phe) c.-301G>T (n.-301G>T) c.148G>T (p.Val50Phe) c.634G>T (p.Val212Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.132175530C= | CA1820664546 | KCNQ3 | c.856G= (p.Val286=) c.496G= (p.Val166=) c.529G= (p.Val177=) c.506G= n.634G= c.493G= (p.Val165=) c.-301G= (n.-301G=) c.148G= (p.Val50=) c.634G= (p.Val212=) | |
| 8 | g.132175530C>G | CA372290462 | KCNQ3 | c.856G>C (p.Val286Leu) c.496G>C (p.Val166Leu) c.529G>C (p.Val177Leu) c.506G>C n.634G>C c.493G>C (p.Val165Leu) c.-301G>C (n.-301G>C) c.148G>C (p.Val50Leu) c.634G>C (p.Val212Leu) | |
| 8 | g.132175530C>T | CA315597 | KCNQ3 | c.856G>A (p.Val286Ile) c.496G>A (p.Val166Ile) c.529G>A (p.Val177Ile) c.506G>A n.634G>A c.493G>A (p.Val165Ile) c.-301G>A (n.-301G>A) c.148G>A (p.Val50Ile) c.634G>A (p.Val212Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.132175531G>A | CA4880828 | KCNQ3 | c.855C>T (p.Asp285=) c.495C>T (p.Asp165=) c.528C>T (p.Asp176=) c.505C>T n.633C>T c.492C>T (p.Asp164=) c.-302C>T (n.-302C>T) c.147C>T (p.Asp49=) c.633C>T (p.Asp211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132175531G>C | CA372290463 | KCNQ3 | c.855C>G (p.Asp285Glu) c.495C>G (p.Asp165Glu) c.528C>G (p.Asp176Glu) c.505C>G n.633C>G c.492C>G (p.Asp164Glu) c.-302C>G (n.-302C>G) c.147C>G (p.Asp49Glu) c.633C>G (p.Asp211Glu) | |
| 8 | g.132175531G= | CA1820664547 | KCNQ3 | c.855C= (p.Asp285=) c.495C= (p.Asp165=) c.528C= (p.Asp176=) c.505C= n.633C= c.492C= (p.Asp164=) c.-302C= (n.-302C=) c.147C= (p.Asp49=) c.633C= (p.Asp211=) | |
| 8 | g.132175531G>T | CA186223486 | KCNQ3 | c.855C>A (p.Asp285Glu) c.495C>A (p.Asp165Glu) c.528C>A (p.Asp176Glu) c.505C>A n.633C>A c.492C>A (p.Asp164Glu) c.-302C>A (n.-302C>A) c.147C>A (p.Asp49Glu) c.633C>A (p.Asp211Glu) | dbSNP |
| 8 | g.132175532T>A | CA372290464 | KCNQ3 | c.854A>T (p.Asp285Val) c.494A>T (p.Asp165Val) c.527A>T (p.Asp176Val) c.504A>T n.632A>T c.491A>T (p.Asp164Val) c.-303A>T (n.-303A>T) c.146A>T (p.Asp49Val) c.632A>T (p.Asp211Val) | |
| 8 | g.132175532T>C | CA372290465 | KCNQ3 | c.854A>G (p.Asp285Gly) c.494A>G (p.Asp165Gly) c.527A>G (p.Asp176Gly) c.504A>G n.632A>G c.491A>G (p.Asp164Gly) c.-303A>G (n.-303A>G) c.146A>G (p.Asp49Gly) c.632A>G (p.Asp211Gly) | dbSNP |
| 8 | g.132175532T>G | CA372290466 | KCNQ3 | c.854A>C (p.Asp285Ala) c.494A>C (p.Asp165Ala) c.527A>C (p.Asp176Ala) c.504A>C n.632A>C c.491A>C (p.Asp164Ala) c.-303A>C (n.-303A>C) c.146A>C (p.Asp49Ala) c.632A>C (p.Asp211Ala) | |
| 8 | g.132175532T= | CA1820664548 | KCNQ3 | c.854A= (p.Asp285=) c.494A= (p.Asp165=) c.527A= (p.Asp176=) c.504A= n.632A= c.491A= (p.Asp164=) c.-303A= (n.-303A=) c.146A= (p.Asp49=) c.632A= (p.Asp211=) | |
| 8 | g.132175533C>A | CA372290467 | KCNQ3 | c.853G>T (p.Asp285Tyr) c.493G>T (p.Asp165Tyr) c.526G>T (p.Asp176Tyr) c.503G>T n.631G>T c.490G>T (p.Asp164Tyr) c.-304G>T (n.-304G>T) c.145G>T (p.Asp49Tyr) c.631G>T (p.Asp211Tyr) | |
| 8 | g.132175533C>G | CA372290468 | KCNQ3 | c.853G>C (p.Asp285His) c.493G>C (p.Asp165His) c.526G>C (p.Asp176His) c.503G>C n.631G>C c.490G>C (p.Asp164His) c.-304G>C (n.-304G>C) c.145G>C (p.Asp49His) c.631G>C (p.Asp211His) | gnomAD v4 |
| 8 | g.132175533C>T | CA372290469 | KCNQ3 | c.853G>A (p.Asp285Asn) c.493G>A (p.Asp165Asn) c.526G>A (p.Asp176Asn) c.503G>A n.631G>A c.490G>A (p.Asp164Asn) c.-304G>A (n.-304G>A) c.145G>A (p.Asp49Asn) c.631G>A (p.Asp211Asn) | |
| 8 | g.132175534T>A | CA372290470 | KCNQ3 | c.852A>T (p.Lys284Asn) c.492A>T (p.Lys164Asn) c.525A>T (p.Lys175Asn) c.502A>T n.630A>T c.489A>T (p.Lys163Asn) c.-305A>T (n.-305A>T) c.144A>T (p.Lys48Asn) c.630A>T (p.Lys210Asn) | |
| 8 | g.132175534T>C | CA463070385 | KCNQ3 | c.852A>G (p.Lys284=) c.492A>G (p.Lys164=) c.525A>G (p.Lys175=) c.502A>G n.630A>G c.489A>G (p.Lys163=) c.-305A>G (n.-305A>G) c.144A>G (p.Lys48=) c.630A>G (p.Lys210=) | |
| 8 | g.132175534T>G | CA372290471 | KCNQ3 | c.852A>C (p.Lys284Asn) c.492A>C (p.Lys164Asn) c.525A>C (p.Lys175Asn) c.502A>C n.630A>C c.489A>C (p.Lys163Asn) c.-305A>C (n.-305A>C) c.144A>C (p.Lys48Asn) c.630A>C (p.Lys210Asn) | |
| 8 | g.132175535T>A | CA372290472 | KCNQ3 | c.851A>T (p.Lys284Ile) c.491A>T (p.Lys164Ile) c.524A>T (p.Lys175Ile) c.501A>T n.629A>T c.488A>T (p.Lys163Ile) c.-306A>T (n.-306A>T) c.143A>T (p.Lys48Ile) c.629A>T (p.Lys210Ile) | |
| 8 | g.132175535T>C | CA372290473 | KCNQ3 | c.851A>G (p.Lys284Arg) c.491A>G (p.Lys164Arg) c.524A>G (p.Lys175Arg) c.501A>G n.629A>G c.488A>G (p.Lys163Arg) c.-306A>G (n.-306A>G) c.143A>G (p.Lys48Arg) c.629A>G (p.Lys210Arg) | |
| 8 | g.132175535T>G | CA372290474 | KCNQ3 | c.851A>C (p.Lys284Thr) c.491A>C (p.Lys164Thr) c.524A>C (p.Lys175Thr) c.501A>C n.629A>C c.488A>C (p.Lys163Thr) c.-306A>C (n.-306A>C) c.143A>C (p.Lys48Thr) c.629A>C (p.Lys210Thr) | |
| 8 | g.132175536T>A | CA372290476 | KCNQ3 | c.850A>T (p.Lys284Ter) c.490A>T (p.Lys164Ter) c.523A>T (p.Lys175Ter) c.500A>T n.628A>T c.487A>T (p.Lys163Ter) c.-307A>T (n.-307A>T) c.142A>T (p.Lys48Ter) c.628A>T (p.Lys210Ter) | |
| 8 | g.132175536T>C | CA372290477 | KCNQ3 | c.850A>G (p.Lys284Glu) c.490A>G (p.Lys164Glu) c.523A>G (p.Lys175Glu) c.500A>G n.628A>G c.487A>G (p.Lys163Glu) c.-307A>G (n.-307A>G) c.142A>G (p.Lys48Glu) c.628A>G (p.Lys210Glu) | |
| 8 | g.132175536T>G | CA372290475 | KCNQ3 | c.850A>C (p.Lys284Gln) c.490A>C (p.Lys164Gln) c.523A>C (p.Lys175Gln) c.500A>C n.628A>C c.487A>C (p.Lys163Gln) c.-307A>C (n.-307A>C) c.142A>C (p.Lys48Gln) c.628A>C (p.Lys210Gln) | |
| 8 | g.132175537C>A | CA372290478 | KCNQ3 | c.849G>T (p.Glu283Asp) c.489G>T (p.Glu163Asp) c.522G>T (p.Glu174Asp) c.499G>T n.627G>T c.486G>T (p.Glu162Asp) c.-308G>T (n.-308G>T) c.141G>T (p.Glu47Asp) c.627G>T (p.Glu209Asp) | |
| 8 | g.132175537C>G | CA372290479 | KCNQ3 | c.849G>C (p.Glu283Asp) c.489G>C (p.Glu163Asp) c.522G>C (p.Glu174Asp) c.499G>C n.627G>C c.486G>C (p.Glu162Asp) c.-308G>C (n.-308G>C) c.141G>C (p.Glu47Asp) c.627G>C (p.Glu209Asp) | |
| 8 | g.132175537C>T | CA463070386 | KCNQ3 | c.849G>A (p.Glu283=) c.489G>A (p.Glu163=) c.522G>A (p.Glu174=) c.499G>A n.627G>A c.486G>A (p.Glu162=) c.-308G>A (n.-308G>A) c.141G>A (p.Glu47=) c.627G>A (p.Glu209=) | |
| 8 | g.132175538T>A | CA372290480 | KCNQ3 | c.848A>T (p.Glu283Val) c.488A>T (p.Glu163Val) c.521A>T (p.Glu174Val) c.498A>T n.626A>T c.485A>T (p.Glu162Val) c.-309A>T (n.-309A>T) c.140A>T (p.Glu47Val) c.626A>T (p.Glu209Val) | ClinVar dbSNP |
| 8 | g.132175538T>C | CA372290481 | KCNQ3 | c.848A>G (p.Glu283Gly) c.488A>G (p.Glu163Gly) c.521A>G (p.Glu174Gly) c.498A>G n.626A>G c.485A>G (p.Glu162Gly) c.-309A>G (n.-309A>G) c.140A>G (p.Glu47Gly) c.626A>G (p.Glu209Gly) | ClinVar COSMIC |
| 8 | g.132175538T>G | CA372290482 | KCNQ3 | c.848A>C (p.Glu283Ala) c.488A>C (p.Glu163Ala) c.521A>C (p.Glu174Ala) c.498A>C n.626A>C c.485A>C (p.Glu162Ala) c.-309A>C (n.-309A>C) c.140A>C (p.Glu47Ala) c.626A>C (p.Glu209Ala) | |
| 8 | g.132175538T= | CA1820664549 | KCNQ3 | c.848A= (p.Glu283=) c.488A= (p.Glu163=) c.521A= (p.Glu174=) c.498A= n.626A= c.485A= (p.Glu162=) c.-309A= (n.-309A=) c.140A= (p.Glu47=) c.626A= (p.Glu209=) | |
| 8 | g.132175539C>A | CA372290485 | KCNQ3 | c.847G>T (p.Glu283Ter) c.487G>T (p.Glu163Ter) c.520G>T (p.Glu174Ter) c.497G>T n.625G>T c.484G>T (p.Glu162Ter) c.-310G>T (n.-310G>T) c.139G>T (p.Glu47Ter) c.625G>T (p.Glu209Ter) | |
| 8 | g.132175539C= | CA1820664550 | KCNQ3 | c.847G= (p.Glu283=) c.487G= (p.Glu163=) c.520G= (p.Glu174=) c.497G= n.625G= c.484G= (p.Glu162=) c.-310G= (n.-310G=) c.139G= (p.Glu47=) c.625G= (p.Glu209=) | |
| 8 | g.132175539C>G | CA372290484 | KCNQ3 | c.847G>C (p.Glu283Gln) c.487G>C (p.Glu163Gln) c.520G>C (p.Glu174Gln) c.497G>C n.625G>C c.484G>C (p.Glu162Gln) c.-310G>C (n.-310G>C) c.139G>C (p.Glu47Gln) c.625G>C (p.Glu209Gln) | ClinVar dbSNP |
| 8 | g.132175539C>T | CA372290483 | KCNQ3 | c.847G>A (p.Glu283Lys) c.487G>A (p.Glu163Lys) c.520G>A (p.Glu174Lys) c.497G>A n.625G>A c.484G>A (p.Glu162Lys) c.-310G>A (n.-310G>A) c.139G>A (p.Glu47Lys) c.625G>A (p.Glu209Lys) | ClinVar dbSNP gnomAD v4 |
| 8 | g.132175540A>C | CA463070387 | KCNQ3 | c.846T>G (p.Val282=) c.486T>G (p.Val162=) c.519T>G (p.Val173=) c.496T>G n.624T>G c.483T>G (p.Val161=) c.-311T>G (n.-311T>G) c.138T>G (p.Val46=) c.624T>G (p.Val208=) | |
| 8 | g.132175540A>G | CA463070388 | KCNQ3 | c.846T>C (p.Val282=) c.486T>C (p.Val162=) c.519T>C (p.Val173=) c.496T>C n.624T>C c.483T>C (p.Val161=) c.-311T>C (n.-311T>C) c.138T>C (p.Val46=) c.624T>C (p.Val208=) | |
| 8 | g.132175540A>T | CA463070389 | KCNQ3 | c.846T>A (p.Val282=) c.486T>A (p.Val162=) c.519T>A (p.Val173=) c.496T>A n.624T>A c.483T>A (p.Val161=) c.-311T>A (n.-311T>A) c.138T>A (p.Val46=) c.624T>A (p.Val208=) | |
| 8 | g.132175541A>C | CA372290486 | KCNQ3 | c.845T>G (p.Val282Gly) c.485T>G (p.Val162Gly) c.518T>G (p.Val173Gly) c.495T>G n.623T>G c.482T>G (p.Val161Gly) c.-312T>G (n.-312T>G) c.137T>G (p.Val46Gly) c.623T>G (p.Val208Gly) | |
| 8 | g.132175541A>G | CA372290487 | KCNQ3 | c.845T>C (p.Val282Ala) c.485T>C (p.Val162Ala) c.518T>C (p.Val173Ala) c.495T>C n.623T>C c.482T>C (p.Val161Ala) c.-312T>C (n.-312T>C) c.137T>C (p.Val46Ala) c.623T>C (p.Val208Ala) | |
| 8 | g.132175541A>T | CA372290488 | KCNQ3 | c.845T>A (p.Val282Asp) c.485T>A (p.Val162Asp) c.518T>A (p.Val173Asp) c.495T>A n.623T>A c.482T>A (p.Val161Asp) c.-312T>A (n.-312T>A) c.137T>A (p.Val46Asp) c.623T>A (p.Val208Asp) | |
| 8 | g.132175542C>A | CA372290489 | KCNQ3 | c.844G>T (p.Val282Phe) c.484G>T (p.Val162Phe) c.517G>T (p.Val173Phe) c.494G>T n.622G>T c.481G>T (p.Val161Phe) c.-313G>T (n.-313G>T) c.136G>T (p.Val46Phe) c.622G>T (p.Val208Phe) | |
| 8 | g.132175542C= | CA1820664551 | KCNQ3 | c.844G= (p.Val282=) c.484G= (p.Val162=) c.517G= (p.Val173=) c.494G= n.622G= c.481G= (p.Val161=) c.-313G= (n.-313G=) c.136G= (p.Val46=) c.622G= (p.Val208=) | |
| 8 | g.132175542C>G | CA372290490 | KCNQ3 | c.844G>C (p.Val282Leu) c.484G>C (p.Val162Leu) c.517G>C (p.Val173Leu) c.494G>C n.622G>C c.481G>C (p.Val161Leu) c.-313G>C (n.-313G>C) c.136G>C (p.Val46Leu) c.622G>C (p.Val208Leu) | |
| 8 | g.132175542C>T | CA372290491 | KCNQ3 | c.844G>A (p.Val282Ile) c.484G>A (p.Val162Ile) c.517G>A (p.Val173Ile) c.494G>A n.622G>A c.481G>A (p.Val161Ile) c.-313G>A (n.-313G>A) c.136G>A (p.Val46Ile) c.622G>A (p.Val208Ile) | dbSNP |
| 8 | g.132175543C>A | CA463070390 | KCNQ3 | c.843G>T (p.Leu281=) c.483G>T (p.Leu161=) c.516G>T (p.Leu172=) c.493G>T n.621G>T c.480G>T (p.Leu160=) c.-314G>T (n.-314G>T) c.135G>T (p.Leu45=) c.621G>T (p.Leu207=) | |
| 8 | g.132175543C>G | CA463070391 | KCNQ3 | c.843G>C (p.Leu281=) c.483G>C (p.Leu161=) c.516G>C (p.Leu172=) c.493G>C n.621G>C c.480G>C (p.Leu160=) c.-314G>C (n.-314G>C) c.135G>C (p.Leu45=) c.621G>C (p.Leu207=) | gnomAD v4 |
| 8 | g.132175543C>T | CA463070392 | KCNQ3 | c.843G>A (p.Leu281=) c.483G>A (p.Leu161=) c.516G>A (p.Leu172=) c.493G>A n.621G>A c.480G>A (p.Leu160=) c.-314G>A (n.-314G>A) c.135G>A (p.Leu45=) c.621G>A (p.Leu207=) | |
| 8 | g.132175544A>C | CA372290494 | KCNQ3 | c.842T>G (p.Leu281Arg) c.482T>G (p.Leu161Arg) c.515T>G (p.Leu172Arg) c.492T>G n.620T>G c.479T>G (p.Leu160Arg) c.-315T>G (n.-315T>G) c.134T>G (p.Leu45Arg) c.620T>G (p.Leu207Arg) | |
| 8 | g.132175544A>G | CA372290492 | KCNQ3 | c.842T>C (p.Leu281Pro) c.482T>C (p.Leu161Pro) c.515T>C (p.Leu172Pro) c.492T>C n.620T>C c.479T>C (p.Leu160Pro) c.-315T>C (n.-315T>C) c.134T>C (p.Leu45Pro) c.620T>C (p.Leu207Pro) | |
| 8 | g.132175544A>T | CA372290493 | KCNQ3 | c.842T>A (p.Leu281Gln) c.482T>A (p.Leu161Gln) c.515T>A (p.Leu172Gln) c.492T>A n.620T>A c.479T>A (p.Leu160Gln) c.-315T>A (n.-315T>A) c.134T>A (p.Leu45Gln) c.620T>A (p.Leu207Gln) | |
| 8 | g.132175545G>A | CA463070393 | KCNQ3 | c.841C>T (p.Leu281=) c.481C>T (p.Leu161=) c.514C>T (p.Leu172=) c.491C>T n.619C>T c.478C>T (p.Leu160=) c.-316C>T (n.-316C>T) c.133C>T (p.Leu45=) c.619C>T (p.Leu207=) | |
| 8 | g.132175545G>C | CA372290495 | KCNQ3 | c.841C>G (p.Leu281Val) c.481C>G (p.Leu161Val) c.514C>G (p.Leu172Val) c.491C>G n.619C>G c.478C>G (p.Leu160Val) c.-316C>G (n.-316C>G) c.133C>G (p.Leu45Val) c.619C>G (p.Leu207Val) | |
| 8 | g.132175545G>T | CA372290496 | KCNQ3 | c.841C>A (p.Leu281Met) c.481C>A (p.Leu161Met) c.514C>A (p.Leu172Met) c.491C>A n.619C>A c.478C>A (p.Leu160Met) c.-316C>A (n.-316C>A) c.133C>A (p.Leu45Met) c.619C>A (p.Leu207Met) | |
| 8 | g.132175546G>A | CA463070395 | KCNQ3 | c.840C>T (p.Tyr280=) c.480C>T (p.Tyr160=) c.513C>T (p.Tyr171=) c.490C>T n.618C>T c.477C>T (p.Tyr159=) c.-317C>T (n.-317C>T) c.132C>T (p.Tyr44=) c.618C>T (p.Tyr206=) | |
| 8 | g.132175546G>C | CA372290497 | KCNQ3 | c.840C>G (p.Tyr280Ter) c.480C>G (p.Tyr160Ter) c.513C>G (p.Tyr171Ter) c.490C>G n.618C>G c.477C>G (p.Tyr159Ter) c.-317C>G (n.-317C>G) c.132C>G (p.Tyr44Ter) c.618C>G (p.Tyr206Ter) | |
| 8 | g.132175546G= | CA1820664552 | KCNQ3 | c.840C= (p.Tyr280=) c.480C= (p.Tyr160=) c.513C= (p.Tyr171=) c.490C= n.618C= c.477C= (p.Tyr159=) c.-317C= (n.-317C=) c.132C= (p.Tyr44=) c.618C= (p.Tyr206=) | |
| 8 | g.132175546G>T | CA372290498 | KCNQ3 | c.840C>A (p.Tyr280Ter) c.480C>A (p.Tyr160Ter) c.513C>A (p.Tyr171Ter) c.490C>A n.618C>A c.477C>A (p.Tyr159Ter) c.-317C>A (n.-317C>A) c.132C>A (p.Tyr44Ter) c.618C>A (p.Tyr206Ter) | dbSNP |
| 8 | g.132175547T>A | CA4880829 | KCNQ3 | c.839A>T (p.Tyr280Phe) c.479A>T (p.Tyr160Phe) c.512A>T (p.Tyr171Phe) c.489A>T n.617A>T c.476A>T (p.Tyr159Phe) c.-318A>T (n.-318A>T) c.131A>T (p.Tyr44Phe) c.617A>T (p.Tyr206Phe) | dbSNP ExAC gnomAD v2 |
| 8 | g.132175547T>C | CA372290499 | KCNQ3 | c.839A>G (p.Tyr280Cys) c.479A>G (p.Tyr160Cys) c.512A>G (p.Tyr171Cys) c.489A>G n.617A>G c.476A>G (p.Tyr159Cys) c.-318A>G (n.-318A>G) c.131A>G (p.Tyr44Cys) c.617A>G (p.Tyr206Cys) | |
| 8 | g.132175547T>G | CA372290500 | KCNQ3 | c.839A>C (p.Tyr280Ser) c.479A>C (p.Tyr160Ser) c.512A>C (p.Tyr171Ser) c.489A>C n.617A>C c.476A>C (p.Tyr159Ser) c.-318A>C (n.-318A>C) c.131A>C (p.Tyr44Ser) c.617A>C (p.Tyr206Ser) | |
| 8 | g.132175547T= | CA1820664553 | KCNQ3 | c.839A= (p.Tyr280=) c.479A= (p.Tyr160=) c.512A= (p.Tyr171=) c.489A= n.617A= c.476A= (p.Tyr159=) c.-318A= (n.-318A=) c.131A= (p.Tyr44=) c.617A= (p.Tyr206=) | |
| 8 | g.132175548A>C | CA372290501 | KCNQ3 | c.838T>G (p.Tyr280Asp) c.478T>G (p.Tyr160Asp) c.511T>G (p.Tyr171Asp) c.488T>G n.616T>G c.475T>G (p.Tyr159Asp) c.-319T>G (n.-319T>G) c.130T>G (p.Tyr44Asp) c.616T>G (p.Tyr206Asp) | |
| 8 | g.132175548A>G | CA372290502 | KCNQ3 | c.838T>C (p.Tyr280His) c.478T>C (p.Tyr160His) c.511T>C (p.Tyr171His) c.488T>C n.616T>C c.475T>C (p.Tyr159His) c.-319T>C (n.-319T>C) c.130T>C (p.Tyr44His) c.616T>C (p.Tyr206His) | |
| 8 | g.132175548A>T | CA372290503 | KCNQ3 | c.838T>A (p.Tyr280Asn) c.478T>A (p.Tyr160Asn) c.511T>A (p.Tyr171Asn) c.488T>A n.616T>A c.475T>A (p.Tyr159Asn) c.-319T>A (n.-319T>A) c.130T>A (p.Tyr44Asn) c.616T>A (p.Tyr206Asn) | |
| 8 | g.132175549G>A | CA463070396 | KCNQ3 | c.837C>T (p.Val279=) c.477C>T (p.Val159=) c.510C>T (p.Val170=) c.487C>T n.615C>T c.474C>T (p.Val158=) c.-320C>T (n.-320C>T) c.129C>T (p.Val43=) c.615C>T (p.Val205=) | |
| 8 | g.132175549G>C | CA463070397 | KCNQ3 | c.837C>G (p.Val279=) c.477C>G (p.Val159=) c.510C>G (p.Val170=) c.487C>G n.615C>G c.474C>G (p.Val158=) c.-320C>G (n.-320C>G) c.129C>G (p.Val43=) c.615C>G (p.Val205=) | gnomAD v4 |
| 8 | g.132175549G>T | CA463070398 | KCNQ3 | c.837C>A (p.Val279=) c.477C>A (p.Val159=) c.510C>A (p.Val170=) c.487C>A n.615C>A c.474C>A (p.Val158=) c.-320C>A (n.-320C>A) c.129C>A (p.Val43=) c.615C>A (p.Val205=) | |
| 8 | g.132175550A>C | CA372290504 | KCNQ3 | c.836T>G (p.Val279Gly) c.476T>G (p.Val159Gly) c.509T>G (p.Val170Gly) c.486T>G n.614T>G c.473T>G (p.Val158Gly) c.-321T>G (n.-321T>G) c.128T>G (p.Val43Gly) c.614T>G (p.Val205Gly) | |
| 8 | g.132175550A>G | CA372290505 | KCNQ3 | c.836T>C (p.Val279Ala) c.476T>C (p.Val159Ala) c.509T>C (p.Val170Ala) c.486T>C n.614T>C c.473T>C (p.Val158Ala) c.-321T>C (n.-321T>C) c.128T>C (p.Val43Ala) c.614T>C (p.Val205Ala) | |
| 8 | g.132175550A>T | CA372290506 | KCNQ3 | c.836T>A (p.Val279Asp) c.476T>A (p.Val159Asp) c.509T>A (p.Val170Asp) c.486T>A n.614T>A c.473T>A (p.Val158Asp) c.-321T>A (n.-321T>A) c.128T>A (p.Val43Asp) c.614T>A (p.Val205Asp) | |
| 8 | g.132175551C>A | CA372290507 | KCNQ3 | c.835G>T (p.Val279Phe) c.475G>T (p.Val159Phe) c.508G>T (p.Val170Phe) c.485G>T n.613G>T c.472G>T (p.Val158Phe) c.-322G>T (n.-322G>T) c.127G>T (p.Val43Phe) c.613G>T (p.Val205Phe) | ClinVar dbSNP |
| 8 | g.132175551C>G | CA372290509 | KCNQ3 | c.835G>C (p.Val279Leu) c.475G>C (p.Val159Leu) c.508G>C (p.Val170Leu) c.485G>C n.613G>C c.472G>C (p.Val158Leu) c.-322G>C (n.-322G>C) c.127G>C (p.Val43Leu) c.613G>C (p.Val205Leu) | |
| 8 | g.132175551C>T | CA372290508 | KCNQ3 | c.835G>A (p.Val279Ile) c.475G>A (p.Val159Ile) c.508G>A (p.Val170Ile) c.485G>A n.613G>A c.472G>A (p.Val158Ile) c.-322G>A (n.-322G>A) c.127G>A (p.Val43Ile) c.613G>A (p.Val205Ile) | gnomAD v4 |
| 8 | g.132175552A= | CA1820664554 | KCNQ3 | c.834T= (p.Leu278=) c.474T= (p.Leu158=) c.507T= (p.Leu169=) c.484T= n.612T= c.471T= (p.Leu157=) c.-323T= (n.-323T=) c.126T= (p.Leu42=) c.612T= (p.Leu204=) | |
| 8 | g.132175552A>C | CA463070400 | KCNQ3 | c.834T>G (p.Leu278=) c.474T>G (p.Leu158=) c.507T>G (p.Leu169=) c.484T>G n.612T>G c.471T>G (p.Leu157=) c.-323T>G (n.-323T>G) c.126T>G (p.Leu42=) c.612T>G (p.Leu204=) | |
| 8 | g.132175552A>G | CA4880830 | KCNQ3 | c.834T>C (p.Leu278=) c.474T>C (p.Leu158=) c.507T>C (p.Leu169=) c.484T>C n.612T>C c.471T>C (p.Leu157=) c.-323T>C (n.-323T>C) c.126T>C (p.Leu42=) c.612T>C (p.Leu204=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132175552A>T | CA463070401 | KCNQ3 | c.834T>A (p.Leu278=) c.474T>A (p.Leu158=) c.507T>A (p.Leu169=) c.484T>A n.612T>A c.471T>A (p.Leu157=) c.-323T>A (n.-323T>A) c.126T>A (p.Leu42=) c.612T>A (p.Leu204=) | |
| 8 | g.132175553A>C | CA372290510 | KCNQ3 | c.833T>G (p.Leu278Arg) c.473T>G (p.Leu158Arg) c.506T>G (p.Leu169Arg) c.483T>G n.611T>G c.470T>G (p.Leu157Arg) c.-324T>G (n.-324T>G) c.125T>G (p.Leu42Arg) c.611T>G (p.Leu204Arg) | |
| 8 | g.132175553A>G | CA372290511 | KCNQ3 | c.833T>C (p.Leu278Pro) c.473T>C (p.Leu158Pro) c.506T>C (p.Leu169Pro) c.483T>C n.611T>C c.470T>C (p.Leu157Pro) c.-324T>C (n.-324T>C) c.125T>C (p.Leu42Pro) c.611T>C (p.Leu204Pro) | |
| 8 | g.132175553A>T | CA372290512 | KCNQ3 | c.833T>A (p.Leu278His) c.473T>A (p.Leu158His) c.506T>A (p.Leu169His) c.483T>A n.611T>A c.470T>A (p.Leu157His) c.-324T>A (n.-324T>A) c.125T>A (p.Leu42His) c.611T>A (p.Leu204His) | |
| 8 | g.132175554G>A | CA372290513 | KCNQ3 | c.832C>T (p.Leu278Phe) c.472C>T (p.Leu158Phe) c.505C>T (p.Leu169Phe) c.482C>T n.610C>T c.469C>T (p.Leu157Phe) c.-325C>T (n.-325C>T) c.124C>T (p.Leu42Phe) c.610C>T (p.Leu204Phe) | COSMIC |
| 8 | g.132175554G>C | CA372290514 | KCNQ3 | c.832C>G (p.Leu278Val) c.472C>G (p.Leu158Val) c.505C>G (p.Leu169Val) c.482C>G n.610C>G c.469C>G (p.Leu157Val) c.-325C>G (n.-325C>G) c.124C>G (p.Leu42Val) c.610C>G (p.Leu204Val) | |
| 8 | g.132175554G>T | CA372290515 | KCNQ3 | c.832C>A (p.Leu278Ile) c.472C>A (p.Leu158Ile) c.505C>A (p.Leu169Ile) c.482C>A n.610C>A c.469C>A (p.Leu157Ile) c.-325C>A (n.-325C>A) c.124C>A (p.Leu42Ile) c.610C>A (p.Leu204Ile) | |
| 8 | g.132175555A>C | CA372290516 | KCNQ3 | c.831T>G (p.Phe277Leu) c.471T>G (p.Phe157Leu) c.504T>G (p.Phe168Leu) c.481T>G n.609T>G c.468T>G (p.Phe156Leu) c.-326T>G (n.-326T>G) c.123T>G (p.Phe41Leu) c.609T>G (p.Phe203Leu) | |
| 8 | g.132175555A>G | CA463070402 | KCNQ3 | c.831T>C (p.Phe277=) c.471T>C (p.Phe157=) c.504T>C (p.Phe168=) c.481T>C n.609T>C c.468T>C (p.Phe156=) c.-326T>C (n.-326T>C) c.123T>C (p.Phe41=) c.609T>C (p.Phe203=) | |
| 8 | g.132175555A>T | CA372290517 | KCNQ3 | c.831T>A (p.Phe277Leu) c.471T>A (p.Phe157Leu) c.504T>A (p.Phe168Leu) c.481T>A n.609T>A c.468T>A (p.Phe156Leu) c.-326T>A (n.-326T>A) c.123T>A (p.Phe41Leu) c.609T>A (p.Phe203Leu) | |
| 8 | g.132175556A>C | CA372290518 | KCNQ3 | c.830T>G (p.Phe277Cys) c.470T>G (p.Phe157Cys) c.503T>G (p.Phe168Cys) c.480T>G n.608T>G c.467T>G (p.Phe156Cys) c.-327T>G (n.-327T>G) c.122T>G (p.Phe41Cys) c.608T>G (p.Phe203Cys) | |
| 8 | g.132175556A>G | CA372290519 | KCNQ3 | c.830T>C (p.Phe277Ser) c.470T>C (p.Phe157Ser) c.503T>C (p.Phe168Ser) c.480T>C n.608T>C c.467T>C (p.Phe156Ser) c.-327T>C (n.-327T>C) c.122T>C (p.Phe41Ser) c.608T>C (p.Phe203Ser) | |
| 8 | g.132175556A>T | CA372290520 | KCNQ3 | c.830T>A (p.Phe277Tyr) c.470T>A (p.Phe157Tyr) c.503T>A (p.Phe168Tyr) c.480T>A n.608T>A c.467T>A (p.Phe156Tyr) c.-327T>A (n.-327T>A) c.122T>A (p.Phe41Tyr) c.608T>A (p.Phe203Tyr) | |
| 8 | g.132175557A>C | CA372290523 | KCNQ3 | c.829T>G (p.Phe277Val) c.469T>G (p.Phe157Val) c.502T>G (p.Phe168Val) c.479T>G n.607T>G c.466T>G (p.Phe156Val) c.-328T>G (n.-328T>G) c.121T>G (p.Phe41Val) c.607T>G (p.Phe203Val) | |
| 8 | g.132175557A>G | CA372290522 | KCNQ3 | c.829T>C (p.Phe277Leu) c.469T>C (p.Phe157Leu) c.502T>C (p.Phe168Leu) c.479T>C n.607T>C c.466T>C (p.Phe156Leu) c.-328T>C (n.-328T>C) c.121T>C (p.Phe41Leu) c.607T>C (p.Phe203Leu) | |
| 8 | g.132175557A>T | CA372290521 | KCNQ3 | c.829T>A (p.Phe277Ile) c.469T>A (p.Phe157Ile) c.502T>A (p.Phe168Ile) c.479T>A n.607T>A c.466T>A (p.Phe156Ile) c.-328T>A (n.-328T>A) c.121T>A (p.Phe41Ile) c.607T>A (p.Phe203Ile) | |
| 8 | g.132175558T>A | CA463070403 | KCNQ3 | c.828A>T (p.Ser276=) c.468A>T (p.Ser156=) c.501A>T (p.Ser167=) c.478A>T n.606A>T c.465A>T (p.Ser155=) c.-329A>T (n.-329A>T) c.120A>T (p.Ser40=) c.606A>T (p.Ser202=) | |
| 8 | g.132175558T>C | CA186223487 | KCNQ3 | c.828A>G (p.Ser276=) c.468A>G (p.Ser156=) c.501A>G (p.Ser167=) c.478A>G n.606A>G c.465A>G (p.Ser155=) c.-329A>G (n.-329A>G) c.120A>G (p.Ser40=) c.606A>G (p.Ser202=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132175558T>G | CA463070404 | KCNQ3 | c.828A>C (p.Ser276=) c.468A>C (p.Ser156=) c.501A>C (p.Ser167=) c.478A>C n.606A>C c.465A>C (p.Ser155=) c.-329A>C (n.-329A>C) c.120A>C (p.Ser40=) c.606A>C (p.Ser202=) | |
| 8 | g.132175558T= | CA1820664555 | KCNQ3 | c.828A= (p.Ser276=) c.468A= (p.Ser156=) c.501A= (p.Ser167=) c.478A= n.606A= c.465A= (p.Ser155=) c.-329A= (n.-329A=) c.120A= (p.Ser40=) c.606A= (p.Ser202=) | |
| 8 | g.132175559G>A | CA372290524 | KCNQ3 | c.827C>T (p.Ser276Leu) c.467C>T (p.Ser156Leu) c.500C>T (p.Ser167Leu) c.477C>T n.605C>T c.464C>T (p.Ser155Leu) c.-330C>T (n.-330C>T) c.119C>T (p.Ser40Leu) c.605C>T (p.Ser202Leu) | |
| 8 | g.132175559G>C | CA372290525 | KCNQ3 | c.827C>G (p.Ser276Ter) c.467C>G (p.Ser156Ter) c.500C>G (p.Ser167Ter) c.477C>G n.605C>G c.464C>G (p.Ser155Ter) c.-330C>G (n.-330C>G) c.119C>G (p.Ser40Ter) c.605C>G (p.Ser202Ter) | |
| 8 | g.132175559G>T | CA372290526 | KCNQ3 | c.827C>A (p.Ser276Ter) c.467C>A (p.Ser156Ter) c.500C>A (p.Ser167Ter) c.477C>A n.605C>A c.464C>A (p.Ser155Ter) c.-330C>A (n.-330C>A) c.119C>A (p.Ser40Ter) c.605C>A (p.Ser202Ter) | |
| 8 | g.132175560A>C | CA372290527 | KCNQ3 | c.826T>G (p.Ser276Ala) c.466T>G (p.Ser156Ala) c.499T>G (p.Ser167Ala) c.476T>G n.604T>G c.463T>G (p.Ser155Ala) c.-331T>G (n.-331T>G) c.118T>G (p.Ser40Ala) c.604T>G (p.Ser202Ala) | |
| 8 | g.132175560A>G | CA372290528 | KCNQ3 | c.826T>C (p.Ser276Pro) c.466T>C (p.Ser156Pro) c.499T>C (p.Ser167Pro) c.476T>C n.604T>C c.463T>C (p.Ser155Pro) c.-331T>C (n.-331T>C) c.118T>C (p.Ser40Pro) c.604T>C (p.Ser202Pro) | |
| 8 | g.132175560A>T | CA372290529 | KCNQ3 | c.826T>A (p.Ser276Thr) c.466T>A (p.Ser156Thr) c.499T>A (p.Ser167Thr) c.476T>A n.604T>A c.463T>A (p.Ser155Thr) c.-331T>A (n.-331T>A) c.118T>A (p.Ser40Thr) c.604T>A (p.Ser202Thr) | |
| 8 | g.132175561A>C | CA463070405 | KCNQ3 | c.825T>G (p.Ser275=) c.465T>G (p.Ser155=) c.498T>G (p.Ser166=) c.475T>G n.603T>G c.462T>G (p.Ser154=) c.-332T>G (n.-332T>G) c.117T>G (p.Ser39=) c.603T>G (p.Ser201=) | |
| 8 | g.132175561A>G | CA463070406 | KCNQ3 | c.825T>C (p.Ser275=) c.465T>C (p.Ser155=) c.498T>C (p.Ser166=) c.475T>C n.603T>C c.462T>C (p.Ser154=) c.-332T>C (n.-332T>C) c.117T>C (p.Ser39=) c.603T>C (p.Ser201=) | |
| 8 | g.132175561A>T | CA463070407 | KCNQ3 | c.825T>A (p.Ser275=) c.465T>A (p.Ser155=) c.498T>A (p.Ser166=) c.475T>A n.603T>A c.462T>A (p.Ser154=) c.-332T>A (n.-332T>A) c.117T>A (p.Ser39=) c.603T>A (p.Ser201=) | |
| 8 | g.132175562G>A | CA372290530 | KCNQ3 | c.824C>T (p.Ser275Phe) c.464C>T (p.Ser155Phe) c.497C>T (p.Ser166Phe) c.474C>T n.602C>T c.461C>T (p.Ser154Phe) c.-333C>T (n.-333C>T) c.116C>T (p.Ser39Phe) c.602C>T (p.Ser201Phe) | COSMIC |
| 8 | g.132175562G>C | CA372290531 | KCNQ3 | c.824C>G (p.Ser275Cys) c.464C>G (p.Ser155Cys) c.497C>G (p.Ser166Cys) c.474C>G n.602C>G c.461C>G (p.Ser154Cys) c.-333C>G (n.-333C>G) c.116C>G (p.Ser39Cys) c.602C>G (p.Ser201Cys) | |
| 8 | g.132175562G= | CA1820664556 | KCNQ3 | c.824C= (p.Ser275=) c.464C= (p.Ser155=) c.497C= (p.Ser166=) c.474C= n.602C= c.461C= (p.Ser154=) c.-333C= (n.-333C=) c.116C= (p.Ser39=) c.602C= (p.Ser201=) | |
| 8 | g.132175562G>T | CA372290532 | KCNQ3 | c.824C>A (p.Ser275Tyr) c.464C>A (p.Ser155Tyr) c.497C>A (p.Ser166Tyr) c.474C>A n.602C>A c.461C>A (p.Ser154Tyr) c.-333C>A (n.-333C>A) c.116C>A (p.Ser39Tyr) c.602C>A (p.Ser201Tyr) | dbSNP |
| 8 | g.132175563A>C | CA372290533 | KCNQ3 | c.823T>G (p.Ser275Ala) c.463T>G (p.Ser155Ala) c.496T>G (p.Ser166Ala) c.473T>G n.601T>G c.460T>G (p.Ser154Ala) c.-334T>G (n.-334T>G) c.115T>G (p.Ser39Ala) c.601T>G (p.Ser201Ala) | |
| 8 | g.132175563A>G | CA372290534 | KCNQ3 | c.823T>C (p.Ser275Pro) c.463T>C (p.Ser155Pro) c.496T>C (p.Ser166Pro) c.473T>C n.601T>C c.460T>C (p.Ser154Pro) c.-334T>C (n.-334T>C) c.115T>C (p.Ser39Pro) c.601T>C (p.Ser201Pro) | |
| 8 | g.132175563A>T | CA372290535 | KCNQ3 | c.823T>A (p.Ser275Thr) c.463T>A (p.Ser155Thr) c.496T>A (p.Ser166Thr) c.473T>A n.601T>A c.460T>A (p.Ser154Thr) c.-334T>A (n.-334T>A) c.115T>A (p.Ser39Thr) c.601T>A (p.Ser201Thr) | |
| 8 | g.132175564A>C | CA463070408 | KCNQ3 | c.822T>G (p.Leu274=) c.462T>G (p.Leu154=) c.495T>G (p.Leu165=) c.472T>G n.600T>G c.459T>G (p.Leu153=) c.-335T>G (n.-335T>G) c.114T>G (p.Leu38=) c.600T>G (p.Leu200=) | |
| 8 | g.132175564A>G | CA463070409 | KCNQ3 | c.822T>C (p.Leu274=) c.462T>C (p.Leu154=) c.495T>C (p.Leu165=) c.472T>C n.600T>C c.459T>C (p.Leu153=) c.-335T>C (n.-335T>C) c.114T>C (p.Leu38=) c.600T>C (p.Leu200=) | gnomAD v4 |
| 8 | g.132175564A>T | CA463070410 | KCNQ3 | c.822T>A (p.Leu274=) c.462T>A (p.Leu154=) c.495T>A (p.Leu165=) c.472T>A n.600T>A c.459T>A (p.Leu153=) c.-335T>A (n.-335T>A) c.114T>A (p.Leu38=) c.600T>A (p.Leu200=) | |
| 8 | g.132175565A>C | CA372290538 | KCNQ3 | c.821T>G (p.Leu274Arg) c.461T>G (p.Leu154Arg) c.494T>G (p.Leu165Arg) c.471T>G n.599T>G c.458T>G (p.Leu153Arg) c.-336T>G (n.-336T>G) c.113T>G (p.Leu38Arg) c.599T>G (p.Leu200Arg) | COSMIC |
| 8 | g.132175565A>G | CA372290537 | KCNQ3 | c.821T>C (p.Leu274Pro) c.461T>C (p.Leu154Pro) c.494T>C (p.Leu165Pro) c.471T>C n.599T>C c.458T>C (p.Leu153Pro) c.-336T>C (n.-336T>C) c.113T>C (p.Leu38Pro) c.599T>C (p.Leu200Pro) | |
| 8 | g.132175565A>T | CA372290536 | KCNQ3 | c.821T>A (p.Leu274His) c.461T>A (p.Leu154His) c.494T>A (p.Leu165His) c.471T>A n.599T>A c.458T>A (p.Leu153His) c.-336T>A (n.-336T>A) c.113T>A (p.Leu38His) c.599T>A (p.Leu200His) | |
| 8 | g.132175566G>A | CA372290539 | KCNQ3 | c.820C>T (p.Leu274Phe) c.460C>T (p.Leu154Phe) c.493C>T (p.Leu165Phe) c.470C>T n.598C>T c.457C>T (p.Leu153Phe) c.-337C>T (n.-337C>T) c.112C>T (p.Leu38Phe) c.598C>T (p.Leu200Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.132175566G>C | CA372290541 | KCNQ3 | c.820C>G (p.Leu274Val) c.460C>G (p.Leu154Val) c.493C>G (p.Leu165Val) c.470C>G n.598C>G c.457C>G (p.Leu153Val) c.-337C>G (n.-337C>G) c.112C>G (p.Leu38Val) c.598C>G (p.Leu200Val) | |
| 8 | g.132175566G= | CA1820664557 | KCNQ3 | c.820C= (p.Leu274=) c.460C= (p.Leu154=) c.493C= (p.Leu165=) c.470C= n.598C= c.457C= (p.Leu153=) c.-337C= (n.-337C=) c.112C= (p.Leu38=) c.598C= (p.Leu200=) | |
| 8 | g.132175566G>T | CA372290540 | KCNQ3 | c.820C>A (p.Leu274Ile) c.460C>A (p.Leu154Ile) c.493C>A (p.Leu165Ile) c.470C>A n.598C>A c.457C>A (p.Leu153Ile) c.-337C>A (n.-337C>A) c.112C>A (p.Leu38Ile) c.598C>A (p.Leu200Ile) | |
| 8 | g.132175567G>A | CA4880831 | KCNQ3 | c.819C>T (p.Ile273=) c.459C>T (p.Ile153=) c.492C>T (p.Ile164=) c.469C>T n.597C>T c.456C>T (p.Ile152=) c.-338C>T (n.-338C>T) c.111C>T (p.Ile37=) c.597C>T (p.Ile199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.132175567G>C | CA372290542 | KCNQ3 | c.819C>G (p.Ile273Met) c.459C>G (p.Ile153Met) c.492C>G (p.Ile164Met) c.469C>G n.597C>G c.456C>G (p.Ile152Met) c.-338C>G (n.-338C>G) c.111C>G (p.Ile37Met) c.597C>G (p.Ile199Met) | |
| 8 | g.132175567G= | CA1820664558 | KCNQ3 | c.819C= (p.Ile273=) c.459C= (p.Ile153=) c.492C= (p.Ile164=) c.469C= n.597C= c.456C= (p.Ile152=) c.-338C= (n.-338C=) c.111C= (p.Ile37=) c.597C= (p.Ile199=) | |
| 8 | g.132175567G>T | CA463070411 | KCNQ3 | c.819C>A (p.Ile273=) c.459C>A (p.Ile153=) c.492C>A (p.Ile164=) c.469C>A n.597C>A c.456C>A (p.Ile152=) c.-338C>A (n.-338C>A) c.111C>A (p.Ile37=) c.597C>A (p.Ile199=) | |
| 8 | g.132175568A>C | CA372290543 | KCNQ3 | c.818T>G (p.Ile273Ser) c.458T>G (p.Ile153Ser) c.491T>G (p.Ile164Ser) c.468T>G n.596T>G c.455T>G (p.Ile152Ser) c.-339T>G (n.-339T>G) c.110T>G (p.Ile37Ser) c.596T>G (p.Ile199Ser) | |
| 8 | g.132175568A>G | CA372290544 | KCNQ3 | c.818T>C (p.Ile273Thr) c.458T>C (p.Ile153Thr) c.491T>C (p.Ile164Thr) c.468T>C n.596T>C c.455T>C (p.Ile152Thr) c.-339T>C (n.-339T>C) c.110T>C (p.Ile37Thr) c.596T>C (p.Ile199Thr) | |
| 8 | g.132175568A>T | CA372290545 | KCNQ3 | c.818T>A (p.Ile273Asn) c.458T>A (p.Ile153Asn) c.491T>A (p.Ile164Asn) c.468T>A n.596T>A c.455T>A (p.Ile152Asn) c.-339T>A (n.-339T>A) c.110T>A (p.Ile37Asn) c.596T>A (p.Ile199Asn) | |
| 8 | g.132175569T>A | CA372290546 | KCNQ3 | c.817A>T (p.Ile273Phe) c.457A>T (p.Ile153Phe) c.490A>T (p.Ile164Phe) c.467A>T n.595A>T c.454A>T (p.Ile152Phe) c.-340A>T (n.-340A>T) c.109A>T (p.Ile37Phe) c.595A>T (p.Ile199Phe) | |
| 8 | g.132175569T>C | CA372290547 | KCNQ3 | c.817A>G (p.Ile273Val) c.457A>G (p.Ile153Val) c.490A>G (p.Ile164Val) c.467A>G n.595A>G c.454A>G (p.Ile152Val) c.-340A>G (n.-340A>G) c.109A>G (p.Ile37Val) c.595A>G (p.Ile199Val) | |
| 8 | g.132175569T>G | CA372290548 | KCNQ3 | c.817A>C (p.Ile273Leu) c.457A>C (p.Ile153Leu) c.490A>C (p.Ile164Leu) c.467A>C n.595A>C c.454A>C (p.Ile152Leu) c.-340A>C (n.-340A>C) c.109A>C (p.Ile37Leu) c.595A>C (p.Ile199Leu) | |
| 8 | g.132175570G>A | CA463070413 | KCNQ3 | c.816C>T (p.Leu272=) c.456C>T (p.Leu152=) c.489C>T (p.Leu163=) c.466C>T n.594C>T c.453C>T (p.Leu151=) c.-341C>T (n.-341C>T) c.108C>T (p.Leu36=) c.594C>T (p.Leu198=) | COSMIC |
| 8 | g.132175570G>C | CA463070416 | KCNQ3 | c.816C>G (p.Leu272=) c.456C>G (p.Leu152=) c.489C>G (p.Leu163=) c.466C>G n.594C>G c.453C>G (p.Leu151=) c.-341C>G (n.-341C>G) c.108C>G (p.Leu36=) c.594C>G (p.Leu198=) | |
| 8 | g.132175570G>T | CA463070415 | KCNQ3 | c.816C>A (p.Leu272=) c.456C>A (p.Leu152=) c.489C>A (p.Leu163=) c.466C>A n.594C>A c.453C>A (p.Leu151=) c.-341C>A (n.-341C>A) c.108C>A (p.Leu36=) c.594C>A (p.Leu198=) | COSMIC |
| 8 | g.132175571A>C | CA372290549 | KCNQ3 | c.815T>G (p.Leu272Arg) c.455T>G (p.Leu152Arg) c.488T>G (p.Leu163Arg) c.465T>G n.593T>G c.452T>G (p.Leu151Arg) c.-342T>G (n.-342T>G) c.107T>G (p.Leu36Arg) c.593T>G (p.Leu198Arg) | |
| 8 | g.132175571A>G | CA372290550 | KCNQ3 | c.815T>C (p.Leu272Pro) c.455T>C (p.Leu152Pro) c.488T>C (p.Leu163Pro) c.465T>C n.593T>C c.452T>C (p.Leu151Pro) c.-342T>C (n.-342T>C) c.107T>C (p.Leu36Pro) c.593T>C (p.Leu198Pro) | ClinVar |
| 8 | g.132175571A>T | CA372290551 | KCNQ3 | c.815T>A (p.Leu272His) c.455T>A (p.Leu152His) c.488T>A (p.Leu163His) c.465T>A n.593T>A c.452T>A (p.Leu151His) c.-342T>A (n.-342T>A) c.107T>A (p.Leu36His) c.593T>A (p.Leu198His) | |
| 8 | g.132175572G>A | CA372290552 | KCNQ3 | c.814C>T (p.Leu272Phe) c.454C>T (p.Leu152Phe) c.487C>T (p.Leu163Phe) c.464C>T n.592C>T c.451C>T (p.Leu151Phe) c.-343C>T (n.-343C>T) c.106C>T (p.Leu36Phe) c.592C>T (p.Leu198Phe) | |
| 8 | g.132175572G>C | CA372290553 | KCNQ3 | c.814C>G (p.Leu272Val) c.454C>G (p.Leu152Val) c.487C>G (p.Leu163Val) c.464C>G n.592C>G c.451C>G (p.Leu151Val) c.-343C>G (n.-343C>G) c.106C>G (p.Leu36Val) c.592C>G (p.Leu198Val) | |
| 8 | g.132175572G>T | CA372290554 | KCNQ3 | c.814C>A (p.Leu272Ile) c.454C>A (p.Leu152Ile) c.487C>A (p.Leu163Ile) c.464C>A n.592C>A c.451C>A (p.Leu151Ile) c.-343C>A (n.-343C>A) c.106C>A (p.Leu36Ile) c.592C>A (p.Leu198Ile) | |
| 8 | g.132175572_132175581delinsGTGTCAGGAA | CA1820664559 | KCNQ3 | c.805_814delinsTTCCTGACAC (p.Phe269=) c.445_454delinsTTCCTGACAC (p.Phe149=) c.478_487delinsTTCCTGACAC (p.Phe160=) c.455_464delinsTTCCTGACAC n.583_592delinsTTCCTGACAC c.442_451delinsTTCCTGACAC (p.Phe148=) c.-352_-343delinsTTCCTGACAC (n.-352_-343delinsTTCCTGACAC) c.97_106delinsTTCCTGACAC (p.Phe33=) c.583_592delinsTTCCTGACAC (p.Phe195=) | |
| 8 | g.132175573T>A | CA463070417 | KCNQ3 | c.813A>T (p.Thr271=) c.453A>T (p.Thr151=) c.486A>T (p.Thr162=) c.463A>T n.591A>T c.450A>T (p.Thr150=) c.-344A>T (n.-344A>T) c.105A>T (p.Thr35=) c.591A>T (p.Thr197=) | |
| 8 | g.132175573T>C | CA4880832 | KCNQ3 | c.813A>G (p.Thr271=) c.453A>G (p.Thr151=) c.486A>G (p.Thr162=) c.463A>G n.591A>G c.450A>G (p.Thr150=) c.-344A>G (n.-344A>G) c.105A>G (p.Thr35=) c.591A>G (p.Thr197=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132175573T>G | CA463070419 | KCNQ3 | c.813A>C (p.Thr271=) c.453A>C (p.Thr151=) c.486A>C (p.Thr162=) c.463A>C n.591A>C c.450A>C (p.Thr150=) c.-344A>C (n.-344A>C) c.105A>C (p.Thr35=) c.591A>C (p.Thr197=) | |
| 8 | g.132175573T= | CA1820664560 | KCNQ3 | c.813A= (p.Thr271=) c.453A= (p.Thr151=) c.486A= (p.Thr162=) c.463A= n.591A= c.450A= (p.Thr150=) c.-344A= (n.-344A=) c.105A= (p.Thr35=) c.591A= (p.Thr197=) | |
| 8 | g.132175573_132175581del | CA1820664561 | KCNQ3 | c.805_813del (p.Phe269_Thr271del) c.445_453del (p.Phe149_Thr151del) c.478_486del (p.Phe160_Thr162del) c.455_463del n.583_591del c.442_450del (p.Phe148_Thr150del) c.-352_-344del (n.-352_-344del) c.97_105del (p.Phe33_Thr35del) c.583_591del (p.Phe195_Thr197del) | dbSNP |
| 8 | g.132175574G>A | CA372290555 | KCNQ3 | c.812C>T (p.Thr271Ile) c.452C>T (p.Thr151Ile) c.485C>T (p.Thr162Ile) c.462C>T n.590C>T c.449C>T (p.Thr150Ile) c.-345C>T (n.-345C>T) c.104C>T (p.Thr35Ile) c.590C>T (p.Thr197Ile) | |
| 8 | g.132175574G>C | CA372290556 | KCNQ3 | c.812C>G (p.Thr271Arg) c.452C>G (p.Thr151Arg) c.485C>G (p.Thr162Arg) c.462C>G n.590C>G c.449C>G (p.Thr150Arg) c.-345C>G (n.-345C>G) c.104C>G (p.Thr35Arg) c.590C>G (p.Thr197Arg) | |
| 8 | g.132175574G>T | CA372290557 | KCNQ3 | c.812C>A (p.Thr271Lys) c.452C>A (p.Thr151Lys) c.485C>A (p.Thr162Lys) c.462C>A n.590C>A c.449C>A (p.Thr150Lys) c.-345C>A (n.-345C>A) c.104C>A (p.Thr35Lys) c.590C>A (p.Thr197Lys) | |
| 8 | g.132175575T>A | CA372290558 | KCNQ3 | c.811A>T (p.Thr271Ser) c.451A>T (p.Thr151Ser) c.484A>T (p.Thr162Ser) c.461A>T n.589A>T c.448A>T (p.Thr150Ser) c.-346A>T (n.-346A>T) c.103A>T (p.Thr35Ser) c.589A>T (p.Thr197Ser) | gnomAD v4 |
| 8 | g.132175575T>C | CA372290559 | KCNQ3 | c.811A>G (p.Thr271Ala) c.451A>G (p.Thr151Ala) c.484A>G (p.Thr162Ala) c.461A>G n.589A>G c.448A>G (p.Thr150Ala) c.-346A>G (n.-346A>G) c.103A>G (p.Thr35Ala) c.589A>G (p.Thr197Ala) | |
| 8 | g.132175575T>G | CA372290560 | KCNQ3 | c.811A>C (p.Thr271Pro) c.451A>C (p.Thr151Pro) c.484A>C (p.Thr162Pro) c.461A>C n.589A>C c.448A>C (p.Thr150Pro) c.-346A>C (n.-346A>C) c.103A>C (p.Thr35Pro) c.589A>C (p.Thr197Pro) | ClinVar |
| 8 | g.132175576C>A | CA463070420 | KCNQ3 | c.810G>T (p.Leu270=) c.450G>T (p.Leu150=) c.483G>T (p.Leu161=) c.460G>T n.588G>T c.447G>T (p.Leu149=) c.-347G>T (n.-347G>T) c.102G>T (p.Leu34=) c.588G>T (p.Leu196=) | |
| 8 | g.132175576C>G | CA463070421 | KCNQ3 | c.810G>C (p.Leu270=) c.450G>C (p.Leu150=) c.483G>C (p.Leu161=) c.460G>C n.588G>C c.447G>C (p.Leu149=) c.-347G>C (n.-347G>C) c.102G>C (p.Leu34=) c.588G>C (p.Leu196=) | |
| 8 | g.132175576C>T | CA463070422 | KCNQ3 | c.810G>A (p.Leu270=) c.450G>A (p.Leu150=) c.483G>A (p.Leu161=) c.460G>A n.588G>A c.447G>A (p.Leu149=) c.-347G>A (n.-347G>A) c.102G>A (p.Leu34=) c.588G>A (p.Leu196=) | |
| 8 | g.132175577A>C | CA372290561 | KCNQ3 | c.809T>G (p.Leu270Arg) c.449T>G (p.Leu150Arg) c.482T>G (p.Leu161Arg) c.459T>G n.587T>G c.446T>G (p.Leu149Arg) c.-348T>G (n.-348T>G) c.101T>G (p.Leu34Arg) c.587T>G (p.Leu196Arg) | |
| 8 | g.132175577A>G | CA372290562 | KCNQ3 | c.809T>C (p.Leu270Pro) c.449T>C (p.Leu150Pro) c.482T>C (p.Leu161Pro) c.459T>C n.587T>C c.446T>C (p.Leu149Pro) c.-348T>C (n.-348T>C) c.101T>C (p.Leu34Pro) c.587T>C (p.Leu196Pro) | |
| 8 | g.132175577A>T | CA372290563 | KCNQ3 | c.809T>A (p.Leu270Gln) c.449T>A (p.Leu150Gln) c.482T>A (p.Leu161Gln) c.459T>A n.587T>A c.446T>A (p.Leu149Gln) c.-348T>A (n.-348T>A) c.101T>A (p.Leu34Gln) c.587T>A (p.Leu196Gln) | |
| 8 | g.132175578G>A | CA463070423 | KCNQ3 | c.808C>T (p.Leu270=) c.448C>T (p.Leu150=) c.481C>T (p.Leu161=) c.458C>T n.586C>T c.445C>T (p.Leu149=) c.-349C>T (n.-349C>T) c.100C>T (p.Leu34=) c.586C>T (p.Leu196=) | gnomAD v4 |
| 8 | g.132175578G>C | CA372290564 | KCNQ3 | c.808C>G (p.Leu270Val) c.448C>G (p.Leu150Val) c.481C>G (p.Leu161Val) c.458C>G n.586C>G c.445C>G (p.Leu149Val) c.-349C>G (n.-349C>G) c.100C>G (p.Leu34Val) c.586C>G (p.Leu196Val) | |
| 8 | g.132175578G>T | CA372290565 | KCNQ3 | c.808C>A (p.Leu270Met) c.448C>A (p.Leu150Met) c.481C>A (p.Leu161Met) c.458C>A n.586C>A c.445C>A (p.Leu149Met) c.-349C>A (n.-349C>A) c.100C>A (p.Leu34Met) c.586C>A (p.Leu196Met) | |
| 8 | g.132175579G>A | CA186223488 | KCNQ3 | c.807C>T (p.Phe269=) c.447C>T (p.Phe149=) c.480C>T (p.Phe160=) c.457C>T n.585C>T c.444C>T (p.Phe148=) c.-350C>T (n.-350C>T) c.99C>T (p.Phe33=) c.585C>T (p.Phe195=) | dbSNP COSMIC |
| 8 | g.132175579G>C | CA372290567 | KCNQ3 | c.807C>G (p.Phe269Leu) c.447C>G (p.Phe149Leu) c.480C>G (p.Phe160Leu) c.457C>G n.585C>G c.444C>G (p.Phe148Leu) c.-350C>G (n.-350C>G) c.99C>G (p.Phe33Leu) c.585C>G (p.Phe195Leu) | |
| 8 | g.132175579G= | CA1820664562 | KCNQ3 | c.807C= (p.Phe269=) c.447C= (p.Phe149=) c.480C= (p.Phe160=) c.457C= n.585C= c.444C= (p.Phe148=) c.-350C= (n.-350C=) c.99C= (p.Phe33=) c.585C= (p.Phe195=) | |
| 8 | g.132175579G>T | CA372290566 | KCNQ3 | c.807C>A (p.Phe269Leu) c.447C>A (p.Phe149Leu) c.480C>A (p.Phe160Leu) c.457C>A n.585C>A c.444C>A (p.Phe148Leu) c.-350C>A (n.-350C>A) c.99C>A (p.Phe33Leu) c.585C>A (p.Phe195Leu) | |
| 8 | g.132175580A>C | CA372290568 | KCNQ3 | c.806T>G (p.Phe269Cys) c.446T>G (p.Phe149Cys) c.479T>G (p.Phe160Cys) c.456T>G n.584T>G c.443T>G (p.Phe148Cys) c.-351T>G (n.-351T>G) c.98T>G (p.Phe33Cys) c.584T>G (p.Phe195Cys) | |
| 8 | g.132175580A>G | CA372290569 | KCNQ3 | c.806T>C (p.Phe269Ser) c.446T>C (p.Phe149Ser) c.479T>C (p.Phe160Ser) c.456T>C n.584T>C c.443T>C (p.Phe148Ser) c.-351T>C (n.-351T>C) c.98T>C (p.Phe33Ser) c.584T>C (p.Phe195Ser) | |
| 8 | g.132175580A>T | CA372290570 | KCNQ3 | c.806T>A (p.Phe269Tyr) c.446T>A (p.Phe149Tyr) c.479T>A (p.Phe160Tyr) c.456T>A n.584T>A c.443T>A (p.Phe148Tyr) c.-351T>A (n.-351T>A) c.98T>A (p.Phe33Tyr) c.584T>A (p.Phe195Tyr) | |
| 8 | g.132175581A>C | CA372290571 | KCNQ3 | c.805T>G (p.Phe269Val) c.445T>G (p.Phe149Val) c.478T>G (p.Phe160Val) c.455T>G n.583T>G c.442T>G (p.Phe148Val) c.-352T>G (n.-352T>G) c.97T>G (p.Phe33Val) c.583T>G (p.Phe195Val) | |
| 8 | g.132175581A>G | CA372290572 | KCNQ3 | c.805T>C (p.Phe269Leu) c.445T>C (p.Phe149Leu) c.478T>C (p.Phe160Leu) c.455T>C n.583T>C c.442T>C (p.Phe148Leu) c.-352T>C (n.-352T>C) c.97T>C (p.Phe33Leu) c.583T>C (p.Phe195Leu) | |
| 8 | g.132175581A>T | CA372290573 | KCNQ3 | c.805T>A (p.Phe269Ile) c.445T>A (p.Phe149Ile) c.478T>A (p.Phe160Ile) c.455T>A n.583T>A c.442T>A (p.Phe148Ile) c.-352T>A (n.-352T>A) c.97T>A (p.Phe33Ile) c.583T>A (p.Phe195Ile) | |
| 8 | g.132175582A= | CA1820664563 | KCNQ3 | c.804T= (p.Gly268=) c.444T= (p.Gly148=) c.477T= (p.Gly159=) c.454T= n.582T= c.441T= (p.Gly147=) c.-353T= (n.-353T=) c.96T= (p.Gly32=) c.582T= (p.Gly194=) | |
| 8 | g.132175582A>C | CA463070424 | KCNQ3 | c.804T>G (p.Gly268=) c.444T>G (p.Gly148=) c.477T>G (p.Gly159=) c.454T>G n.582T>G c.441T>G (p.Gly147=) c.-353T>G (n.-353T>G) c.96T>G (p.Gly32=) c.582T>G (p.Gly194=) | |
| 8 | g.132175582A>G | CA463070425 | KCNQ3 | c.804T>C (p.Gly268=) c.444T>C (p.Gly148=) c.477T>C (p.Gly159=) c.454T>C n.582T>C c.441T>C (p.Gly147=) c.-353T>C (n.-353T>C) c.96T>C (p.Gly32=) c.582T>C (p.Gly194=) | dbSNP |
| 8 | g.132175582A>T | CA463070426 | KCNQ3 | c.804T>A (p.Gly268=) c.444T>A (p.Gly148=) c.477T>A (p.Gly159=) c.454T>A n.582T>A c.441T>A (p.Gly147=) c.-353T>A (n.-353T>A) c.96T>A (p.Gly32=) c.582T>A (p.Gly194=) | |
| 8 | g.132175583C>A | CA372290574 | KCNQ3 | c.803G>T (p.Gly268Val) c.443G>T (p.Gly148Val) c.476G>T (p.Gly159Val) c.453G>T n.581G>T c.440G>T (p.Gly147Val) c.-354G>T (n.-354G>T) c.95G>T (p.Gly32Val) c.581G>T (p.Gly194Val) | |
| 8 | g.132175583C= | CA1820664564 | KCNQ3 | c.803G= (p.Gly268=) c.443G= (p.Gly148=) c.476G= (p.Gly159=) c.453G= n.581G= c.440G= (p.Gly147=) c.-354G= (n.-354G=) c.95G= (p.Gly32=) c.581G= (p.Gly194=) | |
| 8 | g.132175583C>G | CA372290575 | KCNQ3 | c.803G>C (p.Gly268Ala) c.443G>C (p.Gly148Ala) c.476G>C (p.Gly159Ala) c.453G>C n.581G>C c.440G>C (p.Gly147Ala) c.-354G>C (n.-354G>C) c.95G>C (p.Gly32Ala) c.581G>C (p.Gly194Ala) | dbSNP |
| 8 | g.132175583C>T | CA372290576 | KCNQ3 | c.803G>A (p.Gly268Asp) c.443G>A (p.Gly148Asp) c.476G>A (p.Gly159Asp) c.453G>A n.581G>A c.440G>A (p.Gly147Asp) c.-354G>A (n.-354G>A) c.95G>A (p.Gly32Asp) c.581G>A (p.Gly194Asp) | |
| 8 | g.132175584C>A | CA372290577 | KCNQ3 | c.802G>T (p.Gly268Cys) c.442G>T (p.Gly148Cys) c.475G>T (p.Gly159Cys) c.452G>T n.580G>T c.439G>T (p.Gly147Cys) c.-355G>T (n.-355G>T) c.94G>T (p.Gly32Cys) c.580G>T (p.Gly194Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132175584C= | CA1820664565 | KCNQ3 | c.802G= (p.Gly268=) c.442G= (p.Gly148=) c.475G= (p.Gly159=) c.452G= n.580G= c.439G= (p.Gly147=) c.-355G= (n.-355G=) c.94G= (p.Gly32=) c.580G= (p.Gly194=) | |
| 8 | g.132175584C>G | CA372290578 | KCNQ3 | c.802G>C (p.Gly268Arg) c.442G>C (p.Gly148Arg) c.475G>C (p.Gly159Arg) c.452G>C n.580G>C c.439G>C (p.Gly147Arg) c.-355G>C (n.-355G>C) c.94G>C (p.Gly32Arg) c.580G>C (p.Gly194Arg) | ClinVar dbSNP |
| 8 | g.132175584C>T | CA372290579 | KCNQ3 | c.802G>A (p.Gly268Ser) c.442G>A (p.Gly148Ser) c.475G>A (p.Gly159Ser) c.452G>A n.580G>A c.439G>A (p.Gly147Ser) c.-355G>A (n.-355G>A) c.94G>A (p.Gly32Ser) c.580G>A (p.Gly194Ser) | COSMIC |
| 8 | g.132175585G>A | CA4880833 | KCNQ3 | c.801C>T (p.Ile267=) c.441C>T (p.Ile147=) c.474C>T (p.Ile158=) c.451C>T n.579C>T c.438C>T (p.Ile146=) c.-356C>T (n.-356C>T) c.93C>T (p.Ile31=) c.579C>T (p.Ile193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.132175585G>C | CA372290580 | KCNQ3 | c.801C>G (p.Ile267Met) c.441C>G (p.Ile147Met) c.474C>G (p.Ile158Met) c.451C>G n.579C>G c.438C>G (p.Ile146Met) c.-356C>G (n.-356C>G) c.93C>G (p.Ile31Met) c.579C>G (p.Ile193Met) | |
| 8 | g.132175585G= | CA1820664566 | KCNQ3 | c.801C= (p.Ile267=) c.441C= (p.Ile147=) c.474C= (p.Ile158=) c.451C= n.579C= c.438C= (p.Ile146=) c.-356C= (n.-356C=) c.93C= (p.Ile31=) c.579C= (p.Ile193=) | |
| 8 | g.132175585G>T | CA463070427 | KCNQ3 | c.801C>A (p.Ile267=) c.441C>A (p.Ile147=) c.474C>A (p.Ile158=) c.451C>A n.579C>A c.438C>A (p.Ile146=) c.-356C>A (n.-356C>A) c.93C>A (p.Ile31=) c.579C>A (p.Ile193=) | |
| 8 | g.132175586A= | CA1820664567 | KCNQ3 | c.800T= (p.Ile267=) c.440T= (p.Ile147=) c.473T= (p.Ile158=) c.450T= n.578T= c.437T= (p.Ile146=) c.-357T= (n.-357T=) c.92T= (p.Ile31=) c.578T= (p.Ile193=) | |
| 8 | g.132175586A>C | CA372290581 | KCNQ3 | c.800T>G (p.Ile267Ser) c.440T>G (p.Ile147Ser) c.473T>G (p.Ile158Ser) c.450T>G n.578T>G c.437T>G (p.Ile146Ser) c.-357T>G (n.-357T>G) c.92T>G (p.Ile31Ser) c.578T>G (p.Ile193Ser) | |
| 8 | g.132175586A>G | CA372290582 | KCNQ3 | c.800T>C (p.Ile267Thr) c.440T>C (p.Ile147Thr) c.473T>C (p.Ile158Thr) c.450T>C n.578T>C c.437T>C (p.Ile146Thr) c.-357T>C (n.-357T>C) c.92T>C (p.Ile31Thr) c.578T>C (p.Ile193Thr) | |
| 8 | g.132175586A>T | CA372290583 | KCNQ3 | c.800T>A (p.Ile267Asn) c.440T>A (p.Ile147Asn) c.473T>A (p.Ile158Asn) c.450T>A n.578T>A c.437T>A (p.Ile146Asn) c.-357T>A (n.-357T>A) c.92T>A (p.Ile31Asn) c.578T>A (p.Ile193Asn) | dbSNP gnomAD v4 |
| 8 | g.132175587T>A | CA372290584 | KCNQ3 | c.799A>T (p.Ile267Phe) c.439A>T (p.Ile147Phe) c.472A>T (p.Ile158Phe) c.449A>T n.577A>T c.436A>T (p.Ile146Phe) c.-358A>T (n.-358A>T) c.91A>T (p.Ile31Phe) c.577A>T (p.Ile193Phe) | |
| 8 | g.132175587T>C | CA372290585 | KCNQ3 | c.799A>G (p.Ile267Val) c.439A>G (p.Ile147Val) c.472A>G (p.Ile158Val) c.449A>G n.577A>G c.436A>G (p.Ile146Val) c.-358A>G (n.-358A>G) c.91A>G (p.Ile31Val) c.577A>G (p.Ile193Val) | gnomAD v4 |
| 8 | g.132175587T>G | CA372290586 | KCNQ3 | c.799A>C (p.Ile267Leu) c.439A>C (p.Ile147Leu) c.472A>C (p.Ile158Leu) c.449A>C n.577A>C c.436A>C (p.Ile146Leu) c.-358A>C (n.-358A>C) c.91A>C (p.Ile31Leu) c.577A>C (p.Ile193Leu) | ClinVar |
| 8 | g.132175588G>A | CA463070428 | KCNQ3 | c.798C>T (p.Tyr266=) c.438C>T (p.Tyr146=) c.471C>T (p.Tyr157=) c.448C>T n.576C>T c.435C>T (p.Tyr145=) c.-359C>T (n.-359C>T) c.90C>T (p.Tyr30=) c.576C>T (p.Tyr192=) | gnomAD v4 |
| 8 | g.132175588G>C | CA372290587 | KCNQ3 | c.798C>G (p.Tyr266Ter) c.438C>G (p.Tyr146Ter) c.471C>G (p.Tyr157Ter) c.448C>G n.576C>G c.435C>G (p.Tyr145Ter) c.-359C>G (n.-359C>G) c.90C>G (p.Tyr30Ter) c.576C>G (p.Tyr192Ter) | |
| 8 | g.132175588G>T | CA372290588 | KCNQ3 | c.798C>A (p.Tyr266Ter) c.438C>A (p.Tyr146Ter) c.471C>A (p.Tyr157Ter) c.448C>A n.576C>A c.435C>A (p.Tyr145Ter) c.-359C>A (n.-359C>A) c.90C>A (p.Tyr30Ter) c.576C>A (p.Tyr192Ter) | |
| 8 | g.132175589T>A | CA372290589 | KCNQ3 | c.797A>T (p.Tyr266Phe) c.437A>T (p.Tyr146Phe) c.470A>T (p.Tyr157Phe) c.447A>T n.575A>T c.434A>T (p.Tyr145Phe) c.-360A>T (n.-360A>T) c.89A>T (p.Tyr30Phe) c.575A>T (p.Tyr192Phe) | gnomAD v3 gnomAD v4 |
| 8 | g.132175589T>C | CA315595 | KCNQ3 | c.797A>G (p.Tyr266Cys) c.437A>G (p.Tyr146Cys) c.470A>G (p.Tyr157Cys) c.447A>G n.575A>G c.434A>G (p.Tyr145Cys) c.-360A>G (n.-360A>G) c.89A>G (p.Tyr30Cys) c.575A>G (p.Tyr192Cys) | ClinVar dbSNP |
| 8 | g.132175589T>G | CA372290590 | KCNQ3 | c.797A>C (p.Tyr266Ser) c.437A>C (p.Tyr146Ser) c.470A>C (p.Tyr157Ser) c.447A>C n.575A>C c.434A>C (p.Tyr145Ser) c.-360A>C (n.-360A>C) c.89A>C (p.Tyr30Ser) c.575A>C (p.Tyr192Ser) | |
| 8 | g.132175589T= | CA1820664568 | KCNQ3 | c.797A= (p.Tyr266=) c.437A= (p.Tyr146=) c.470A= (p.Tyr157=) c.447A= n.575A= c.434A= (p.Tyr145=) c.-360A= (n.-360A=) c.89A= (p.Tyr30=) c.575A= (p.Tyr192=) | |
| 8 | g.132175590A= | CA1820664569 | KCNQ3 | c.796T= (p.Tyr266=) c.436T= (p.Tyr146=) c.469T= (p.Tyr157=) c.446T= n.574T= c.433T= (p.Tyr145=) c.-361T= (n.-361T=) c.88T= (p.Tyr30=) c.574T= (p.Tyr192=) | |
| 8 | g.132175590A>C | CA372290591 | KCNQ3 | c.796T>G (p.Tyr266Asp) c.436T>G (p.Tyr146Asp) c.469T>G (p.Tyr157Asp) c.446T>G n.574T>G c.433T>G (p.Tyr145Asp) c.-361T>G (n.-361T>G) c.88T>G (p.Tyr30Asp) c.574T>G (p.Tyr192Asp) | |
| 8 | g.132175590A>G | CA372290592 | KCNQ3 | c.796T>C (p.Tyr266His) c.436T>C (p.Tyr146His) c.469T>C (p.Tyr157His) c.446T>C n.574T>C c.433T>C (p.Tyr145His) c.-361T>C (n.-361T>C) c.88T>C (p.Tyr30His) c.574T>C (p.Tyr192His) | |
| 8 | g.132175590A>T | CA186223489 | KCNQ3 | c.796T>A (p.Tyr266Asn) c.436T>A (p.Tyr146Asn) c.469T>A (p.Tyr157Asn) c.446T>A n.574T>A c.433T>A (p.Tyr145Asn) c.-361T>A (n.-361T>A) c.88T>A (p.Tyr30Asn) c.574T>A (p.Tyr192Asn) | dbSNP |
| 8 | g.132175591C>A | CA372290594 | KCNQ3 | c.795G>T (p.Trp265Cys) c.435G>T (p.Trp145Cys) c.468G>T (p.Trp156Cys) c.445G>T n.573G>T c.432G>T (p.Trp144Cys) c.-362G>T (n.-362G>T) c.87G>T (p.Trp29Cys) c.573G>T (p.Trp191Cys) | |
| 8 | g.132175591C>G | CA372290595 | KCNQ3 | c.795G>C (p.Trp265Cys) c.435G>C (p.Trp145Cys) c.468G>C (p.Trp156Cys) c.445G>C n.573G>C c.432G>C (p.Trp144Cys) c.-362G>C (n.-362G>C) c.87G>C (p.Trp29Cys) c.573G>C (p.Trp191Cys) | |
| 8 | g.132175591C>T | CA372290593 | KCNQ3 | c.795G>A (p.Trp265Ter) c.435G>A (p.Trp145Ter) c.468G>A (p.Trp156Ter) c.445G>A n.573G>A c.432G>A (p.Trp144Ter) c.-362G>A (n.-362G>A) c.87G>A (p.Trp29Ter) c.573G>A (p.Trp191Ter) | |
| 8 | g.132175591_132175592delinsTT | CA645546528 | KCNQ3 | c.794_795delinsAA (p.Trp265Ter) c.434_435delinsAA (p.Trp145Ter) c.467_468delinsAA (p.Trp156Ter) c.444_445delinsAA n.572_573delinsAA c.431_432delinsAA (p.Trp144Ter) c.-363_-362delinsAA (n.-363_-362delinsAA) c.86_87delinsAA (p.Trp29Ter) c.572_573delinsAA (p.Trp191Ter) | COSMIC |
| 8 | g.132175592C>A | CA372290596 | KCNQ3 | c.794G>T (p.Trp265Leu) c.434G>T (p.Trp145Leu) c.467G>T (p.Trp156Leu) c.444G>T n.572G>T c.431G>T (p.Trp144Leu) c.-363G>T (n.-363G>T) c.86G>T (p.Trp29Leu) c.572G>T (p.Trp191Leu) | |
| 8 | g.132175592C>G | CA372290597 | KCNQ3 | c.794G>C (p.Trp265Ser) c.434G>C (p.Trp145Ser) c.467G>C (p.Trp156Ser) c.444G>C n.572G>C c.431G>C (p.Trp144Ser) c.-363G>C (n.-363G>C) c.86G>C (p.Trp29Ser) c.572G>C (p.Trp191Ser) | |
| 8 | g.132175592C>T | CA372290598 | KCNQ3 | c.794G>A (p.Trp265Ter) c.434G>A (p.Trp145Ter) c.467G>A (p.Trp156Ter) c.444G>A n.572G>A c.431G>A (p.Trp144Ter) c.-363G>A (n.-363G>A) c.86G>A (p.Trp29Ter) c.572G>A (p.Trp191Ter) | |
| 8 | g.132175593A= | CA1820664570 | KCNQ3 | c.793T= (p.Trp265=) c.433T= (p.Trp145=) c.466T= (p.Trp156=) c.443T= n.571T= c.430T= (p.Trp144=) c.-364T= (n.-364T=) c.85T= (p.Trp29=) c.571T= (p.Trp191=) | |
| 8 | g.132175593A>C | CA372290599 | KCNQ3 | c.793T>G (p.Trp265Gly) c.433T>G (p.Trp145Gly) c.466T>G (p.Trp156Gly) c.443T>G n.571T>G c.430T>G (p.Trp144Gly) c.-364T>G (n.-364T>G) c.85T>G (p.Trp29Gly) c.571T>G (p.Trp191Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132175593A>G | CA372290600 | KCNQ3 | c.793T>C (p.Trp265Arg) c.433T>C (p.Trp145Arg) c.466T>C (p.Trp156Arg) c.443T>C n.571T>C c.430T>C (p.Trp144Arg) c.-364T>C (n.-364T>C) c.85T>C (p.Trp29Arg) c.571T>C (p.Trp191Arg) | |
| 8 | g.132175593A>T | CA372290601 | KCNQ3 | c.793T>A (p.Trp265Arg) c.433T>A (p.Trp145Arg) c.466T>A (p.Trp156Arg) c.443T>A n.571T>A c.430T>A (p.Trp144Arg) c.-364T>A (n.-364T>A) c.85T>A (p.Trp29Arg) c.571T>A (p.Trp191Arg) | |
| 8 | g.132175594G>A | CA463070433 | KCNQ3 | c.792C>T (p.Ala264=) c.432C>T (p.Ala144=) c.465C>T (p.Ala155=) c.442C>T n.570C>T c.429C>T (p.Ala143=) c.-365C>T (n.-365C>T) c.84C>T (p.Ala28=) c.570C>T (p.Ala190=) | |
| 8 | g.132175594G>C | CA4880834 | KCNQ3 | c.792C>G (p.Ala264=) c.432C>G (p.Ala144=) c.465C>G (p.Ala155=) c.442C>G n.570C>G c.429C>G (p.Ala143=) c.-365C>G (n.-365C>G) c.84C>G (p.Ala28=) c.570C>G (p.Ala190=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132175594G= | CA1820664571 | KCNQ3 | c.792C= (p.Ala264=) c.432C= (p.Ala144=) c.465C= (p.Ala155=) c.442C= n.570C= c.429C= (p.Ala143=) c.-365C= (n.-365C=) c.84C= (p.Ala28=) c.570C= (p.Ala190=) | |
| 8 | g.132175594G>T | CA463070434 | KCNQ3 | c.792C>A (p.Ala264=) c.432C>A (p.Ala144=) c.465C>A (p.Ala155=) c.442C>A n.570C>A c.429C>A (p.Ala143=) c.-365C>A (n.-365C>A) c.84C>A (p.Ala28=) c.570C>A (p.Ala190=) | |
| 8 | g.132175595G>A | CA372290602 | KCNQ3 | c.791C>T (p.Ala264Val) c.431C>T (p.Ala144Val) c.464C>T (p.Ala155Val) c.441C>T n.569C>T c.428C>T (p.Ala143Val) c.-366C>T (n.-366C>T) c.83C>T (p.Ala28Val) c.569C>T (p.Ala190Val) | |
| 8 | g.132175595G>C | CA372290604 | KCNQ3 | c.791C>G (p.Ala264Gly) c.431C>G (p.Ala144Gly) c.464C>G (p.Ala155Gly) c.441C>G n.569C>G c.428C>G (p.Ala143Gly) c.-366C>G (n.-366C>G) c.83C>G (p.Ala28Gly) c.569C>G (p.Ala190Gly) | dbSNP |
| 8 | g.132175595G= | CA1820664572 | KCNQ3 | c.791C= (p.Ala264=) c.431C= (p.Ala144=) c.464C= (p.Ala155=) c.441C= n.569C= c.428C= (p.Ala143=) c.-366C= (n.-366C=) c.83C= (p.Ala28=) c.569C= (p.Ala190=) | |
| 8 | g.132175595G>T | CA372290603 | KCNQ3 | c.791C>A (p.Ala264Asp) c.431C>A (p.Ala144Asp) c.464C>A (p.Ala155Asp) c.441C>A n.569C>A c.428C>A (p.Ala143Asp) c.-366C>A (n.-366C>A) c.83C>A (p.Ala28Asp) c.569C>A (p.Ala190Asp) |