| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132175491C>A | CA372290374 | KCNQ3 | c.895G>T (p.Glu299Ter) c.535G>T (p.Glu179Ter) c.568G>T (p.Glu190Ter) c.545G>T n.673G>T c.532G>T (p.Glu178Ter) c.-262G>T (n.-262G>T) c.187G>T (p.Glu63Ter) c.673G>T (p.Glu225Ter) | |
| 8 | g.132175491C= | CA1820664528 | KCNQ3 | c.895G= (p.Glu299=) c.535G= (p.Glu179=) c.568G= (p.Glu190=) c.545G= n.673G= c.532G= (p.Glu178=) c.-262G= (n.-262G=) c.187G= (p.Glu63=) c.673G= (p.Glu225=) | |
| 8 | g.132175491C>G | CA372290375 | KCNQ3 | c.895G>C (p.Glu299Gln) c.535G>C (p.Glu179Gln) c.568G>C (p.Glu190Gln) c.545G>C n.673G>C c.532G>C (p.Glu178Gln) c.-262G>C (n.-262G>C) c.187G>C (p.Glu63Gln) c.673G>C (p.Glu225Gln) | |
| 8 | g.132175491C>T | CA342039 | KCNQ3 | c.895G>A (p.Glu299Lys) c.535G>A (p.Glu179Lys) c.568G>A (p.Glu190Lys) c.545G>A n.673G>A c.532G>A (p.Glu178Lys) c.-262G>A (n.-262G>A) c.187G>A (p.Glu63Lys) c.673G>A (p.Glu225Lys) | ClinVar dbSNP |
| 8 | g.132175492C>A | CA372290377 | KCNQ3 | c.894G>T (p.Glu298Asp) c.534G>T (p.Glu178Asp) c.567G>T (p.Glu189Asp) c.544G>T n.672G>T c.531G>T (p.Glu177Asp) c.-263G>T (n.-263G>T) c.186G>T (p.Glu62Asp) c.672G>T (p.Glu224Asp) | |
| 8 | g.132175492C= | CA1820664529 | KCNQ3 | c.894G= (p.Glu298=) c.534G= (p.Glu178=) c.567G= (p.Glu189=) c.544G= n.672G= c.531G= (p.Glu177=) c.-263G= (n.-263G=) c.186G= (p.Glu62=) c.672G= (p.Glu224=) | |
| 8 | g.132175492C>G | CA372290376 | KCNQ3 | c.894G>C (p.Glu298Asp) c.534G>C (p.Glu178Asp) c.567G>C (p.Glu189Asp) c.544G>C n.672G>C c.531G>C (p.Glu177Asp) c.-263G>C (n.-263G>C) c.186G>C (p.Glu62Asp) c.672G>C (p.Glu224Asp) | gnomAD v4 |
| 8 | g.132175492C>T | CA463070365 | KCNQ3 | c.894G>A (p.Glu298=) c.534G>A (p.Glu178=) c.567G>A (p.Glu189=) c.544G>A n.672G>A c.531G>A (p.Glu177=) c.-263G>A (n.-263G>A) c.186G>A (p.Glu62=) c.672G>A (p.Glu224=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132175493del | CA2580078584 | KCNQ3 | c.893del (p.Glu298GlyfsTer14) c.533del (p.Glu178GlyfsTer14) c.566del (p.Glu189GlyfsTer14) c.543del n.671del c.530del (p.Glu177GlyfsTer14) c.-264del (n.-264del) c.185del (p.Glu62GlyfsTer14) c.671del (p.Glu224GlyfsTer14) | ClinVar |
| 8 | g.132175493T>A | CA372290378 | KCNQ3 | c.893A>T (p.Glu298Val) c.533A>T (p.Glu178Val) c.566A>T (p.Glu189Val) c.543A>T n.671A>T c.530A>T (p.Glu177Val) c.-264A>T (n.-264A>T) c.185A>T (p.Glu62Val) c.671A>T (p.Glu224Val) | |
| 8 | g.132175493T>C | CA372290379 | KCNQ3 | c.893A>G (p.Glu298Gly) c.533A>G (p.Glu178Gly) c.566A>G (p.Glu189Gly) c.543A>G n.671A>G c.530A>G (p.Glu177Gly) c.-264A>G (n.-264A>G) c.185A>G (p.Glu62Gly) c.671A>G (p.Glu224Gly) | dbSNP |
| 8 | g.132175493T>G | CA372290380 | KCNQ3 | c.893A>C (p.Glu298Ala) c.533A>C (p.Glu178Ala) c.566A>C (p.Glu189Ala) c.543A>C n.671A>C c.530A>C (p.Glu177Ala) c.-264A>C (n.-264A>C) c.185A>C (p.Glu62Ala) c.671A>C (p.Glu224Ala) | |
| 8 | g.132175493T= | CA1820664530 | KCNQ3 | c.893A= (p.Glu298=) c.533A= (p.Glu178=) c.566A= (p.Glu189=) c.543A= n.671A= c.530A= (p.Glu177=) c.-264A= (n.-264A=) c.185A= (p.Glu62=) c.671A= (p.Glu224=) | |
| 8 | g.132175494C>A | CA372290381 | KCNQ3 | c.892G>T (p.Glu298Ter) c.532G>T (p.Glu178Ter) c.565G>T (p.Glu189Ter) c.542G>T n.670G>T c.529G>T (p.Glu177Ter) c.-265G>T (n.-265G>T) c.184G>T (p.Glu62Ter) c.670G>T (p.Glu224Ter) | |
| 8 | g.132175494C>G | CA372290382 | KCNQ3 | c.892G>C (p.Glu298Gln) c.532G>C (p.Glu178Gln) c.565G>C (p.Glu189Gln) c.542G>C n.670G>C c.529G>C (p.Glu177Gln) c.-265G>C (n.-265G>C) c.184G>C (p.Glu62Gln) c.670G>C (p.Glu224Gln) | |
| 8 | g.132175494C>T | CA372290383 | KCNQ3 | c.892G>A (p.Glu298Lys) c.532G>A (p.Glu178Lys) c.565G>A (p.Glu189Lys) c.542G>A n.670G>A c.529G>A (p.Glu177Lys) c.-265G>A (n.-265G>A) c.184G>A (p.Glu62Lys) c.670G>A (p.Glu224Lys) | |
| 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) |