Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.223053268G>A | CA431595345 | KCNE4 | c.438G>A (p.Glu146=) c.591G>A (p.Glu197=) n.75+994G>A | |
2 | g.223053268G>C | CA351121551 | KCNE4 | c.438G>C (p.Glu146Asp) c.591G>C (p.Glu197Asp) n.75+994G>C | |
2 | g.223053268G>T | CA351121552 | KCNE4 | c.438G>T (p.Glu146Asp) c.591G>T (p.Glu197Asp) n.75+994G>T | |
2 | g.223053269C>A | CA351121554 | KCNE4 | c.439C>A (p.Leu147Met) c.592C>A (p.Leu198Met) n.75+995C>A | dbSNP |
2 | g.223053269C= | CA1330889710 | KCNE4 | c.439C= (p.Leu147=) c.592C= (p.Leu198=) n.75+995C= | |
2 | g.223053269C>G | CA351121553 | KCNE4 | c.439C>G (p.Leu147Val) c.592C>G (p.Leu198Val) n.75+995C>G | |
2 | g.223053269C>T | CA431595346 | KCNE4 | c.439C>T (p.Leu147=) c.592C>T (p.Leu198=) n.75+995C>T | |
2 | g.223053270T>A | CA351121555 | KCNE4 | c.440T>A (p.Leu147Gln) c.593T>A (p.Leu198Gln) n.75+996T>A | |
2 | g.223053270T>C | CA351121556 | KCNE4 | c.440T>C (p.Leu147Pro) c.593T>C (p.Leu198Pro) n.75+996T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053270T>G | CA351121557 | KCNE4 | c.440T>G (p.Leu147Arg) c.593T>G (p.Leu198Arg) n.75+996T>G | |
2 | g.223053270T= | CA1330889711 | KCNE4 | c.440T= (p.Leu147=) c.593T= (p.Leu198=) n.75+996T= | |
2 | g.223053271G>A | CA2137861 | KCNE4 | c.441G>A (p.Leu147=) c.594G>A (p.Leu198=) n.75+997G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053271G>C | CA431595348 | KCNE4 | c.441G>C (p.Leu147=) c.594G>C (p.Leu198=) n.75+997G>C | |
2 | g.223053271G= | CA1330889712 | KCNE4 | c.441G= (p.Leu147=) c.594G= (p.Leu198=) n.75+997G= | |
2 | g.223053271G>T | CA431595347 | KCNE4 | c.441G>T (p.Leu147=) c.594G>T (p.Leu198=) n.75+997G>T | |
2 | g.223053272G>A | CA351121558 | KCNE4 | c.442G>A (p.Glu148Lys) c.595G>A (p.Glu199Lys) n.75+998G>A | |
2 | g.223053272G>C | CA351121559 | KCNE4 | c.442G>C (p.Glu148Gln) c.595G>C (p.Glu199Gln) n.75+998G>C | |
2 | g.223053272G= | CA1330889713 | KCNE4 | c.442G= (p.Glu148=) c.595G= (p.Glu199=) n.75+998G= | |
2 | g.223053272G>T | CA66396450 | KCNE4 | c.442G>T (p.Glu148Ter) c.595G>T (p.Glu199Ter) n.75+998G>T | dbSNP |
2 | g.223053273A>C | CA351121560 | KCNE4 | c.443A>C (p.Glu148Ala) c.596A>C (p.Glu199Ala) n.75+999A>C | |
2 | g.223053273A>G | CA351121562 | KCNE4 | c.443A>G (p.Glu148Gly) c.596A>G (p.Glu199Gly) n.75+999A>G | |
2 | g.223053273A>T | CA351121561 | KCNE4 | c.443A>T (p.Glu148Val) c.596A>T (p.Glu199Val) n.75+999A>T | gnomAD v4 |
2 | g.223053274G>A | CA431595349 | KCNE4 | c.444G>A (p.Glu148=) c.597G>A (p.Glu199=) n.75+1000G>A | |
2 | g.223053274G>C | CA351121563 | KCNE4 | c.444G>C (p.Glu148Asp) c.597G>C (p.Glu199Asp) n.75+1000G>C | |
2 | g.223053274G>T | CA351121564 | KCNE4 | c.444G>T (p.Glu148Asp) c.597G>T (p.Glu199Asp) n.75+1000G>T | |
2 | g.223053275G>A | CA351121565 | KCNE4 | c.445G>A (p.Glu149Lys) c.598G>A (p.Glu200Lys) n.75+1001G>A | COSMIC |
2 | g.223053275G>C | CA351121566 | KCNE4 | c.445G>C (p.Glu149Gln) c.598G>C (p.Glu200Gln) n.75+1001G>C | |
2 | g.223053275G>T | CA351121567 | KCNE4 | c.445G>T (p.Glu149Ter) c.598G>T (p.Glu200Ter) n.75+1001G>T | |
2 | g.223053276A>C | CA351121569 | KCNE4 | c.446A>C (p.Glu149Ala) c.599A>C (p.Glu200Ala) n.75+1002A>C | |
2 | g.223053276A>G | CA351121570 | KCNE4 | c.446A>G (p.Glu149Gly) c.599A>G (p.Glu200Gly) n.75+1002A>G | |
2 | g.223053276A>T | CA351121568 | KCNE4 | c.446A>T (p.Glu149Val) c.599A>T (p.Glu200Val) n.75+1002A>T | |
2 | g.223053277G>A | CA431595350 | KCNE4 | c.447G>A (p.Glu149=) c.600G>A (p.Glu200=) n.75+1003G>A | gnomAD v4 COSMIC |
2 | g.223053277G>C | CA351121572 | KCNE4 | c.447G>C (p.Glu149Asp) c.600G>C (p.Glu200Asp) n.75+1003G>C | |
2 | g.223053277G>T | CA351121571 | KCNE4 | c.447G>T (p.Glu149Asp) c.600G>T (p.Glu200Asp) n.75+1003G>T | |
2 | g.223053278A>C | CA351121573 | KCNE4 | c.448A>C (p.Thr150Pro) c.601A>C (p.Thr201Pro) n.75+1004A>C | |
2 | g.223053278A>G | CA351121574 | KCNE4 | c.448A>G (p.Thr150Ala) c.601A>G (p.Thr201Ala) n.75+1004A>G | |
2 | g.223053278A>T | CA351121575 | KCNE4 | c.448A>T (p.Thr150Ser) c.601A>T (p.Thr201Ser) n.75+1004A>T | |
2 | g.223053279C>A | CA351121576 | KCNE4 | c.449C>A (p.Thr150Asn) c.602C>A (p.Thr201Asn) n.75+1005C>A | |
2 | g.223053279C>G | CA351121577 | KCNE4 | c.449C>G (p.Thr150Ser) c.602C>G (p.Thr201Ser) n.75+1005C>G | |
2 | g.223053279C>T | CA351121578 | KCNE4 | c.449C>T (p.Thr150Ile) c.602C>T (p.Thr201Ile) n.75+1005C>T | |
2 | g.223053280C>A | CA431595351 | KCNE4 | c.450C>A (p.Thr150=) c.603C>A (p.Thr201=) n.75+1006C>A | gnomAD v4 |
2 | g.223053280C= | CA1330889714 | KCNE4 | c.450C= (p.Thr150=) c.603C= (p.Thr201=) n.75+1006C= | |
2 | g.223053280C>G | CA431595352 | KCNE4 | c.450C>G (p.Thr150=) c.603C>G (p.Thr201=) n.75+1006C>G | |
2 | g.223053280C>T | CA2137862 | KCNE4 | c.450C>T (p.Thr150=) c.603C>T (p.Thr201=) n.75+1006C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.223053281T>A | CA351121579 | KCNE4 | c.451T>A (p.Ser151Thr) c.604T>A (p.Ser202Thr) n.75+1007T>A | |
2 | g.223053281T>C | CA351121581 | KCNE4 | c.451T>C (p.Ser151Pro) c.604T>C (p.Ser202Pro) n.75+1007T>C | |
2 | g.223053281T>G | CA351121580 | KCNE4 | c.451T>G (p.Ser151Ala) c.604T>G (p.Ser202Ala) n.75+1007T>G | |
2 | g.223053282C>A | CA351121582 | KCNE4 | c.452C>A (p.Ser151Ter) c.605C>A (p.Ser202Ter) n.75+1008C>A | |
2 | g.223053282C= | CA1330889715 | KCNE4 | c.452C= (p.Ser151=) c.605C= (p.Ser202=) n.75+1008C= | |
2 | g.223053282C>G | CA351121583 | KCNE4 | c.452C>G (p.Ser151Trp) c.605C>G (p.Ser202Trp) n.75+1008C>G | |
2 | g.223053282C>T | CA2137863 | KCNE4 | c.452C>T (p.Ser151Leu) c.605C>T (p.Ser202Leu) n.75+1008C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053283G>A | CA2137864 | KCNE4 | c.453G>A (p.Ser151=) c.606G>A (p.Ser202=) n.75+1009G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053283G>C | CA431595353 | KCNE4 | c.453G>C (p.Ser151=) c.606G>C (p.Ser202=) n.75+1009G>C | |
2 | g.223053283G= | CA1330889716 | KCNE4 | c.453G= (p.Ser151=) c.606G= (p.Ser202=) n.75+1009G= | |
2 | g.223053283G>T | CA431595354 | KCNE4 | c.453G>T (p.Ser151=) c.606G>T (p.Ser202=) n.75+1009G>T | |
2 | g.223053284del | CA2838307371 | KCNE4 | c.454del (p.Glu152ArgfsTer?) c.607del (p.Glu203ArgfsTer?) n.75+1010del | |
2 | g.223053284G>A | CA351121584 | KCNE4 | c.454G>A (p.Glu152Lys) c.607G>A (p.Glu203Lys) n.75+1010G>A | COSMIC |
2 | g.223053284G>C | CA351121586 | KCNE4 | c.454G>C (p.Glu152Gln) c.607G>C (p.Glu203Gln) n.75+1010G>C | |
2 | g.223053284G>T | CA351121585 | KCNE4 | c.454G>T (p.Glu152Ter) c.607G>T (p.Glu203Ter) n.75+1010G>T | |
2 | g.223053285A>C | CA351121587 | KCNE4 | c.455A>C (p.Glu152Ala) c.608A>C (p.Glu203Ala) n.75+1011A>C | |
2 | g.223053285A>G | CA351121588 | KCNE4 | c.455A>G (p.Glu152Gly) c.608A>G (p.Glu203Gly) n.75+1011A>G | |
2 | g.223053285A>T | CA351121589 | KCNE4 | c.455A>T (p.Glu152Val) c.608A>T (p.Glu203Val) n.75+1011A>T | |
2 | g.223053286G>A | CA431595355 | KCNE4 | c.456G>A (p.Glu152=) c.609G>A (p.Glu203=) n.75+1012G>A | |
2 | g.223053286G>C | CA351121590 | KCNE4 | c.456G>C (p.Glu152Asp) c.609G>C (p.Glu203Asp) n.75+1012G>C | |
2 | g.223053286G>T | CA351121591 | KCNE4 | c.456G>T (p.Glu152Asp) c.609G>T (p.Glu203Asp) n.75+1012G>T | |
2 | g.223053287A>C | CA351121592 | KCNE4 | c.457A>C (p.Thr153Pro) c.610A>C (p.Thr204Pro) n.75+1013A>C | dbSNP |
2 | g.223053287A>G | CA351121593 | KCNE4 | c.457A>G (p.Thr153Ala) c.610A>G (p.Thr204Ala) n.75+1013A>G | |
2 | g.223053287A>T | CA351121594 | KCNE4 | c.457A>T (p.Thr153Ser) c.610A>T (p.Thr204Ser) n.75+1013A>T | |
2 | g.223053288C>A | CA351121595 | KCNE4 | c.458C>A (p.Thr153Lys) c.611C>A (p.Thr204Lys) n.75+1014C>A | |
2 | g.223053288C>G | CA351121596 | KCNE4 | c.458C>G (p.Thr153Arg) c.611C>G (p.Thr204Arg) n.75+1014C>G | |
2 | g.223053288C>T | CA351121597 | KCNE4 | c.458C>T (p.Thr153Met) c.611C>T (p.Thr204Met) n.75+1014C>T | gnomAD v4 COSMIC |
2 | g.223053289G>A | CA431595356 | KCNE4 | c.459G>A (p.Thr153=) c.612G>A (p.Thr204=) n.75+1015G>A | dbSNP gnomAD v4 |
2 | g.223053289G>C | CA431595357 | KCNE4 | c.459G>C (p.Thr153=) c.612G>C (p.Thr204=) n.75+1015G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053289G= | CA1330889717 | KCNE4 | c.459G= (p.Thr153=) c.612G= (p.Thr204=) n.75+1015G= | |
2 | g.223053289G>T | CA2137865 | KCNE4 | c.459G>T (p.Thr153=) c.612G>T (p.Thr204=) n.75+1015G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053290C>A | CA351121598 | KCNE4 | c.460C>A (p.Pro154Thr) c.613C>A (p.Pro205Thr) n.75+1016C>A | |
2 | g.223053290C>G | CA351121600 | KCNE4 | c.460C>G (p.Pro154Ala) c.613C>G (p.Pro205Ala) n.75+1016C>G | |
2 | g.223053290C>T | CA351121599 | KCNE4 | c.460C>T (p.Pro154Ser) c.613C>T (p.Pro205Ser) n.75+1016C>T | |
2 | g.223053293dup | CA2839312168 | KCNE4 | c.463dup (p.Leu155ProfsTer?) c.616dup (p.Leu206ProfsTer?) n.75+1019dup | |
2 | g.223053293del | CA2838307380 | KCNE4 | c.463del (p.Leu155SerfsTer?) c.616del (p.Leu206SerfsTer?) n.75+1019del | |
2 | g.223053291C>A | CA351121601 | KCNE4 | c.461C>A (p.Pro154His) c.614C>A (p.Pro205His) n.75+1017C>A | |
2 | g.223053291C>G | CA351121602 | KCNE4 | c.461C>G (p.Pro154Arg) c.614C>G (p.Pro205Arg) n.75+1017C>G | |
2 | g.223053291C>T | CA351121603 | KCNE4 | c.461C>T (p.Pro154Leu) c.614C>T (p.Pro205Leu) n.75+1017C>T | gnomAD v4 |
2 | g.223053292C>A | CA431595358 | KCNE4 | c.462C>A (p.Pro154=) c.615C>A (p.Pro205=) n.75+1018C>A | |
2 | g.223053292C= | CA1330889718 | KCNE4 | c.462C= (p.Pro154=) c.615C= (p.Pro205=) n.75+1018C= | |
2 | g.223053292C>G | CA431595359 | KCNE4 | c.462C>G (p.Pro154=) c.615C>G (p.Pro205=) n.75+1018C>G | |
2 | g.223053292C>T | CA431595360 | KCNE4 | c.462C>T (p.Pro154=) c.615C>T (p.Pro205=) n.75+1018C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.223053293C>A | CA351121604 | KCNE4 | c.463C>A (p.Leu155Ile) c.616C>A (p.Leu206Ile) n.75+1019C>A | |
2 | g.223053293C= | CA1330889719 | KCNE4 | c.463C= (p.Leu155=) c.616C= (p.Leu206=) n.75+1019C= | |
2 | g.223053293C>G | CA351121605 | KCNE4 | c.463C>G (p.Leu155Val) c.616C>G (p.Leu206Val) n.75+1019C>G | dbSNP |
2 | g.223053293C>T | CA351121606 | KCNE4 | c.463C>T (p.Leu155Phe) c.616C>T (p.Leu206Phe) n.75+1019C>T | |
2 | g.223053294T>A | CA351121607 | KCNE4 | c.464T>A (p.Leu155His) c.617T>A (p.Leu206His) n.75+1020T>A | |
2 | g.223053294T>C | CA351121608 | KCNE4 | c.464T>C (p.Leu155Pro) c.617T>C (p.Leu206Pro) n.75+1020T>C | dbSNP gnomAD v4 |
2 | g.223053294T>G | CA351121609 | KCNE4 | c.464T>G (p.Leu155Arg) c.617T>G (p.Leu206Arg) n.75+1020T>G | |
2 | g.223053294T= | CA1330889720 | KCNE4 | c.464T= (p.Leu155=) c.617T= (p.Leu206=) n.75+1020T= | |
2 | g.223053295C>A | CA431595362 | KCNE4 | c.465C>A (p.Leu155=) c.618C>A (p.Leu206=) n.75+1021C>A | COSMIC |
2 | g.223053295C= | CA1330889721 | KCNE4 | c.465C= (p.Leu155=) c.618C= (p.Leu206=) n.75+1021C= | |
2 | g.223053295C>G | CA431595363 | KCNE4 | c.465C>G (p.Leu155=) c.618C>G (p.Leu206=) n.75+1021C>G | |
2 | g.223053295C>T | CA2137866 | KCNE4 | c.465C>T (p.Leu155=) c.618C>T (p.Leu206=) n.75+1021C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053296A>C | CA351121610 | KCNE4 | c.466A>C (p.Asn156His) c.619A>C (p.Asn207His) n.75+1022A>C | |
2 | g.223053296A>G | CA351121611 | KCNE4 | c.466A>G (p.Asn156Asp) c.619A>G (p.Asn207Asp) n.75+1022A>G | |
2 | g.223053296A>T | CA351121612 | KCNE4 | c.466A>T (p.Asn156Tyr) c.619A>T (p.Asn207Tyr) n.75+1022A>T | |
2 | g.223053297A>C | CA351121615 | KCNE4 | c.467A>C (p.Asn156Thr) c.620A>C (p.Asn207Thr) n.75+1023A>C | |
2 | g.223053297A>G | CA351121613 | KCNE4 | c.467A>G (p.Asn156Ser) c.620A>G (p.Asn207Ser) n.75+1023A>G | |
2 | g.223053297A>T | CA351121614 | KCNE4 | c.467A>T (p.Asn156Ile) c.620A>T (p.Asn207Ile) n.75+1023A>T | |
2 | g.223053298C>A | CA351121616 | KCNE4 | c.468C>A (p.Asn156Lys) c.621C>A (p.Asn207Lys) n.75+1024C>A | dbSNP |
2 | g.223053298C= | CA1330889722 | KCNE4 | c.468C= (p.Asn156=) c.621C= (p.Asn207=) n.75+1024C= | |
2 | g.223053298C>G | CA351121617 | KCNE4 | c.468C>G (p.Asn156Lys) c.621C>G (p.Asn207Lys) n.75+1024C>G | dbSNP |
2 | g.223053298C>T | CA431595365 | KCNE4 | c.468C>T (p.Asn156=) c.621C>T (p.Asn207=) n.75+1024C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053299G>A | CA351121618 | KCNE4 | c.469G>A (p.Glu157Lys) c.622G>A (p.Glu208Lys) n.75+1025G>A | gnomAD v4 COSMIC |
2 | g.223053299G>C | CA351121619 | KCNE4 | c.469G>C (p.Glu157Gln) c.622G>C (p.Glu208Gln) n.75+1025G>C | dbSNP gnomAD v4 |
2 | g.223053299G= | CA1330889723 | KCNE4 | c.469G= (p.Glu157=) c.622G= (p.Glu208=) n.75+1025G= | |
2 | g.223053299G>T | CA351121620 | KCNE4 | c.469G>T (p.Glu157Ter) c.622G>T (p.Glu208Ter) n.75+1025G>T | |
2 | g.223053300A>C | CA351121621 | KCNE4 | c.470A>C (p.Glu157Ala) c.623A>C (p.Glu208Ala) n.75+1026A>C | |
2 | g.223053300A>G | CA351121622 | KCNE4 | c.470A>G (p.Glu157Gly) c.623A>G (p.Glu208Gly) n.75+1026A>G | |
2 | g.223053300A>T | CA351121623 | KCNE4 | c.470A>T (p.Glu157Val) c.623A>T (p.Glu208Val) n.75+1026A>T | |
2 | g.223053301G>A | CA2137867 | KCNE4 | c.471G>A (p.Glu157=) c.624G>A (p.Glu208=) n.75+1027G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053301G>C | CA351121624 | KCNE4 | c.471G>C (p.Glu157Asp) c.624G>C (p.Glu208Asp) n.75+1027G>C | gnomAD v4 |
2 | g.223053301G= | CA1330889724 | KCNE4 | c.471G= (p.Glu157=) c.624G= (p.Glu208=) n.75+1027G= | |
2 | g.223053301G>T | CA351121625 | KCNE4 | c.471G>T (p.Glu157Asp) c.624G>T (p.Glu208Asp) n.75+1027G>T | |
2 | g.223053301_223053302insGACCCTTCGCTGCTCTCGTTG | CA2839753939 | KCNE4 | c.471_472insGACCCTTCGCTGCTCTCGTTG (p.Glu157_Ser158insAspProSerLeuLeuSerLeu) c.624_625insGACCCTTCGCTGCTCTCGTTG (p.Glu208_Ser209insAspProSerLeuLeuSerLeu) n.75+1027_75+1028insGACCCTTCGCTGCTCTCGTTG | |
2 | g.223053302A>C | CA351121628 | KCNE4 | c.472A>C (p.Ser158Arg) c.625A>C (p.Ser209Arg) n.75+1028A>C | |
2 | g.223053302A>G | CA351121627 | KCNE4 | c.472A>G (p.Ser158Gly) c.625A>G (p.Ser209Gly) n.75+1028A>G | gnomAD v4 |
2 | g.223053302A>T | CA351121626 | KCNE4 | c.472A>T (p.Ser158Cys) c.625A>T (p.Ser209Cys) n.75+1028A>T | |
2 | g.223053303G>A | CA2137868 | KCNE4 | c.473G>A (p.Ser158Asn) c.626G>A (p.Ser209Asn) n.75+1029G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.223053303G>C | CA351121630 | KCNE4 | c.473G>C (p.Ser158Thr) c.626G>C (p.Ser209Thr) n.75+1029G>C | |
2 | g.223053303G= | CA1330889725 | KCNE4 | c.473G= (p.Ser158=) c.626G= (p.Ser209=) n.75+1029G= | |
2 | g.223053303G>T | CA351121629 | KCNE4 | c.473G>T (p.Ser158Ile) c.626G>T (p.Ser209Ile) n.75+1029G>T | |
2 | g.223053304C>A | CA351121631 | KCNE4 | c.474C>A (p.Ser158Arg) c.627C>A (p.Ser209Arg) n.75+1030C>A | |
2 | g.223053304C>G | CA351121632 | KCNE4 | c.474C>G (p.Ser158Arg) c.627C>G (p.Ser209Arg) n.75+1030C>G | |
2 | g.223053304C>T | CA431595366 | KCNE4 | c.474C>T (p.Ser158=) c.627C>T (p.Ser209=) n.75+1030C>T | |
2 | g.223053305A>C | CA351121633 | KCNE4 | c.475A>C (p.Ser159Arg) c.628A>C (p.Ser210Arg) n.75+1031A>C | |
2 | g.223053305A>G | CA351121634 | KCNE4 | c.475A>G (p.Ser159Gly) c.628A>G (p.Ser210Gly) n.75+1031A>G | |
2 | g.223053305A>T | CA351121635 | KCNE4 | c.475A>T (p.Ser159Cys) c.628A>T (p.Ser210Cys) n.75+1031A>T | |
2 | g.223053306G>A | CA351121636 | KCNE4 | c.476G>A (p.Ser159Asn) c.629G>A (p.Ser210Asn) n.75+1032G>A | |
2 | g.223053306G>C | CA351121637 | KCNE4 | c.476G>C (p.Ser159Thr) c.629G>C (p.Ser210Thr) n.75+1032G>C | |
2 | g.223053306G>T | CA351121638 | KCNE4 | c.476G>T (p.Ser159Ile) c.629G>T (p.Ser210Ile) n.75+1032G>T | gnomAD v4 |
2 | g.223053307C>A | CA351121639 | KCNE4 | c.477C>A (p.Ser159Arg) c.630C>A (p.Ser210Arg) n.75+1033C>A | |
2 | g.223053307C= | CA1330889726 | KCNE4 | c.477C= (p.Ser159=) c.630C= (p.Ser210=) n.75+1033C= | |
2 | g.223053307C>G | CA66396451 | KCNE4 | c.477C>G (p.Ser159Arg) c.630C>G (p.Ser210Arg) n.75+1033C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053307C>T | CA2137869 | KCNE4 | c.477C>T (p.Ser159=) c.630C>T (p.Ser210=) n.75+1033C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.223053308G>A | CA351121642 | KCNE4 | c.478G>A (p.Glu160Lys) c.631G>A (p.Glu211Lys) n.75+1034G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.223053308G>C | CA351121640 | KCNE4 | c.478G>C (p.Glu160Gln) c.631G>C (p.Glu211Gln) n.75+1034G>C | gnomAD v4 |
2 | g.223053308G= | CA1330889727 | KCNE4 | c.478G= (p.Glu160=) c.631G= (p.Glu211=) n.75+1034G= | |
2 | g.223053308G>T | CA351121641 | KCNE4 | c.478G>T (p.Glu160Ter) c.631G>T (p.Glu211Ter) n.75+1034G>T | |
2 | g.223053309A>C | CA351121643 | KCNE4 | c.479A>C (p.Glu160Ala) c.632A>C (p.Glu211Ala) n.75+1035A>C | |
2 | g.223053309A>G | CA351121644 | KCNE4 | c.479A>G (p.Glu160Gly) c.632A>G (p.Glu211Gly) n.75+1035A>G | |
2 | g.223053309A>T | CA351121645 | KCNE4 | c.479A>T (p.Glu160Val) c.632A>T (p.Glu211Val) n.75+1035A>T | |
2 | g.223053310A>C | CA351121646 | KCNE4 | c.480A>C (p.Glu160Asp) c.633A>C (p.Glu211Asp) n.75+1036A>C | |
2 | g.223053310A>G | CA431595367 | KCNE4 | c.480A>G (p.Glu160=) c.633A>G (p.Glu211=) n.75+1036A>G | |
2 | g.223053310A>T | CA351121647 | KCNE4 | c.480A>T (p.Glu160Asp) c.633A>T (p.Glu211Asp) n.75+1036A>T | |
2 | g.223053311G>A | CA66396452 | KCNE4 | c.481G>A (p.Gly161Arg) c.634G>A (p.Gly212Arg) n.75+1037G>A | dbSNP gnomAD v4 |
2 | g.223053311G>C | CA351121648 | KCNE4 | c.481G>C (p.Gly161Arg) c.634G>C (p.Gly212Arg) n.75+1037G>C | gnomAD v4 |
2 | g.223053311G= | CA1330889728 | KCNE4 | c.481G= (p.Gly161=) c.634G= (p.Gly212=) n.75+1037G= | |
2 | g.223053311G>T | CA351121649 | KCNE4 | c.481G>T (p.Gly161Trp) c.634G>T (p.Gly212Trp) n.75+1037G>T | |
2 | g.223053312G>A | CA351121650 | KCNE4 | c.482G>A (p.Gly161Glu) c.635G>A (p.Gly212Glu) n.75+1038G>A | gnomAD v4 |
2 | g.223053312G>C | CA351121651 | KCNE4 | c.482G>C (p.Gly161Ala) c.635G>C (p.Gly212Ala) n.75+1038G>C | |
2 | g.223053312G>T | CA351121652 | KCNE4 | c.482G>T (p.Gly161Val) c.635G>T (p.Gly212Val) n.75+1038G>T | |
2 | g.223053313G>A | CA431595368 | KCNE4 | c.483G>A (p.Gly161=) c.636G>A (p.Gly212=) n.75+1039G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.223053313G>C | CA431595369 | KCNE4 | c.483G>C (p.Gly161=) c.636G>C (p.Gly212=) n.75+1039G>C | |
2 | g.223053313G= | CA1330889729 | KCNE4 | c.483G= (p.Gly161=) c.636G= (p.Gly212=) n.75+1039G= | |
2 | g.223053313G>T | CA431595370 | KCNE4 | c.483G>T (p.Gly161=) c.636G>T (p.Gly212=) n.75+1039G>T | |
2 | g.223053314T>A | CA351121654 | KCNE4 | c.484T>A (p.Ser162Thr) c.637T>A (p.Ser213Thr) n.75+1040T>A | |
2 | g.223053314T>C | CA2137870 | KCNE4 | c.484T>C (p.Ser162Pro) c.637T>C (p.Ser213Pro) n.75+1040T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.223053314T>G | CA351121653 | KCNE4 | c.484T>G (p.Ser162Ala) c.637T>G (p.Ser213Ala) n.75+1040T>G | |
2 | g.223053314T= | CA1330889730 | KCNE4 | c.484T= (p.Ser162=) c.637T= (p.Ser213=) n.75+1040T= | |
2 | g.223053315C>A | CA351121655 | KCNE4 | c.485C>A (p.Ser162Tyr) c.638C>A (p.Ser213Tyr) n.75+1041C>A | |
2 | g.223053315C>G | CA351121656 | KCNE4 | c.485C>G (p.Ser162Cys) c.638C>G (p.Ser213Cys) n.75+1041C>G | |
2 | g.223053315C>T | CA351121657 | KCNE4 | c.485C>T (p.Ser162Phe) c.638C>T (p.Ser213Phe) n.75+1041C>T | |
2 | g.223053316C>A | CA431595371 | KCNE4 | c.486C>A (p.Ser162=) c.639C>A (p.Ser213=) n.75+1042C>A | |
2 | g.223053316C>G | CA431595372 | KCNE4 | c.486C>G (p.Ser162=) c.639C>G (p.Ser213=) n.75+1042C>G | |
2 | g.223053316C>T | CA431595373 | KCNE4 | c.486C>T (p.Ser162=) c.639C>T (p.Ser213=) n.75+1042C>T | |
2 | g.223053317T>A | CA351121658 | KCNE4 | c.487T>A (p.Ser163Thr) c.640T>A (p.Ser214Thr) n.75+1043T>A | |
2 | g.223053317T>C | CA351121659 | KCNE4 | c.487T>C (p.Ser163Pro) c.640T>C (p.Ser214Pro) n.75+1043T>C | |
2 | g.223053317T>G | CA351121660 | KCNE4 | c.487T>G (p.Ser163Ala) c.640T>G (p.Ser214Ala) n.75+1043T>G | |
2 | g.223053318C>A | CA351121661 | KCNE4 | c.488C>A (p.Ser163Ter) c.641C>A (p.Ser214Ter) n.75+1044C>A | |
2 | g.223053318C= | CA1330889731 | KCNE4 | c.488C= (p.Ser163=) c.641C= (p.Ser214=) n.75+1044C= | |
2 | g.223053318C>G | CA351121662 | KCNE4 | c.488C>G (p.Ser163Trp) c.641C>G (p.Ser214Trp) n.75+1044C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053318C>T | CA2137871 | KCNE4 | c.488C>T (p.Ser163Leu) c.641C>T (p.Ser214Leu) n.75+1044C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.223053319G>A | CA2137872 | KCNE4 | c.489G>A (p.Ser163=) c.642G>A (p.Ser214=) n.75+1045G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.223053319G>C | CA431595374 | KCNE4 | c.489G>C (p.Ser163=) c.642G>C (p.Ser214=) n.75+1045G>C | |
2 | g.223053319G= | CA1330889732 | KCNE4 | c.489G= (p.Ser163=) c.642G= (p.Ser214=) n.75+1045G= | |
2 | g.223053319G>T | CA431595375 | KCNE4 | c.489G>T (p.Ser163=) c.642G>T (p.Ser214=) n.75+1045G>T | |
2 | g.223053320G>A | CA351121663 | KCNE4 | c.490G>A (p.Glu164Lys) c.643G>A (p.Glu215Lys) n.75+1046G>A | |
2 | g.223053320G>C | CA351121664 | KCNE4 | c.490G>C (p.Glu164Gln) c.643G>C (p.Glu215Gln) n.75+1046G>C | |
2 | g.223053320G= | CA1330889733 | KCNE4 | c.490G= (p.Glu164=) c.643G= (p.Glu215=) n.75+1046G= | |
2 | g.223053320G>T | CA351121665 | KCNE4 | c.490G>T (p.Glu164Ter) c.643G>T (p.Glu215Ter) n.75+1046G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053321A>C | CA351121668 | KCNE4 | c.491A>C (p.Glu164Ala) c.644A>C (p.Glu215Ala) n.75+1047A>C | |
2 | g.223053321A>G | CA351121667 | KCNE4 | c.491A>G (p.Glu164Gly) c.644A>G (p.Glu215Gly) n.75+1047A>G | |
2 | g.223053321A>T | CA351121666 | KCNE4 | c.491A>T (p.Glu164Val) c.644A>T (p.Glu215Val) n.75+1047A>T | |
2 | g.223053322G>A | CA431595376 | KCNE4 | c.492G>A (p.Glu164=) c.645G>A (p.Glu215=) n.75+1048G>A | |
2 | g.223053322G>C | CA351121669 | KCNE4 | c.492G>C (p.Glu164Asp) c.645G>C (p.Glu215Asp) n.75+1048G>C | |
2 | g.223053322G= | CA1330889734 | KCNE4 | c.492G= (p.Glu164=) c.645G= (p.Glu215=) n.75+1048G= | |
2 | g.223053322G>T | CA2137873 | KCNE4 | c.492G>T (p.Glu164Asp) c.645G>T (p.Glu215Asp) n.75+1048G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053323A>C | CA351121670 | KCNE4 | c.493A>C (p.Asn165His) c.646A>C (p.Asn216His) n.75+1049A>C | |
2 | g.223053323A>G | CA351121671 | KCNE4 | c.493A>G (p.Asn165Asp) c.646A>G (p.Asn216Asp) n.75+1049A>G | |
2 | g.223053323A>T | CA351121672 | KCNE4 | c.493A>T (p.Asn165Tyr) c.646A>T (p.Asn216Tyr) n.75+1049A>T | |
2 | g.223053324A>C | CA351121673 | KCNE4 | c.494A>C (p.Asn165Thr) c.647A>C (p.Asn216Thr) n.75+1050A>C | |
2 | g.223053324A>G | CA351121674 | KCNE4 | c.494A>G (p.Asn165Ser) c.647A>G (p.Asn216Ser) n.75+1050A>G | |
2 | g.223053324A>T | CA351121675 | KCNE4 | c.494A>T (p.Asn165Ile) c.647A>T (p.Asn216Ile) n.75+1050A>T | |
2 | g.223053325C>A | CA351121676 | KCNE4 | c.495C>A (p.Asn165Lys) c.648C>A (p.Asn216Lys) n.75+1051C>A | |
2 | g.223053325C>G | CA351121677 | KCNE4 | c.495C>G (p.Asn165Lys) c.648C>G (p.Asn216Lys) n.75+1051C>G | |
2 | g.223053325C>T | CA431595377 | KCNE4 | c.495C>T (p.Asn165=) c.648C>T (p.Asn216=) n.75+1051C>T | gnomAD v4 |
2 | g.223053326A>C | CA351121678 | KCNE4 | c.496A>C (p.Ile166Leu) c.649A>C (p.Ile217Leu) n.75+1052A>C | |
2 | g.223053326A>G | CA351121679 | KCNE4 | c.496A>G (p.Ile166Val) c.649A>G (p.Ile217Val) n.75+1052A>G | gnomAD v4 |
2 | g.223053326A>T | CA351121680 | KCNE4 | c.496A>T (p.Ile166Phe) c.649A>T (p.Ile217Phe) n.75+1052A>T | |
2 | g.223053327T>A | CA2137874 | KCNE4 | c.497T>A (p.Ile166Asn) c.650T>A (p.Ile217Asn) n.75+1053T>A | dbSNP ExAC gnomAD v2 |
2 | g.223053327T>C | CA351121682 | KCNE4 | c.497T>C (p.Ile166Thr) c.650T>C (p.Ile217Thr) n.75+1053T>C | |
2 | g.223053327T>G | CA351121681 | KCNE4 | c.497T>G (p.Ile166Ser) c.650T>G (p.Ile217Ser) n.75+1053T>G | |
2 | g.223053327T= | CA1330889735 | KCNE4 | c.497T= (p.Ile166=) c.650T= (p.Ile217=) n.75+1053T= | |
2 | g.223053328C>A | CA431595378 | KCNE4 | c.498C>A (p.Ile166=) c.651C>A (p.Ile217=) n.75+1054C>A | |
2 | g.223053328C= | CA1330889736 | KCNE4 | c.498C= (p.Ile166=) c.651C= (p.Ile217=) n.75+1054C= | |
2 | g.223053328C>G | CA351121683 | KCNE4 | c.498C>G (p.Ile166Met) c.651C>G (p.Ile217Met) n.75+1054C>G | |
2 | g.223053328C>T | CA431595379 | KCNE4 | c.498C>T (p.Ile166=) c.651C>T (p.Ile217=) n.75+1054C>T | dbSNP gnomAD v2 |
2 | g.223053329C>A | CA351121685 | KCNE4 | c.499C>A (p.His167Asn) c.652C>A (p.His218Asn) n.75+1055C>A | gnomAD v4 |
2 | g.223053329C>G | CA351121684 | KCNE4 | c.499C>G (p.His167Asp) c.652C>G (p.His218Asp) n.75+1055C>G | |
2 | g.223053329C>T | CA351121686 | KCNE4 | c.499C>T (p.His167Tyr) c.652C>T (p.His218Tyr) n.75+1055C>T | |
2 | g.223053330A>C | CA351121687 | KCNE4 | c.500A>C (p.His167Pro) c.653A>C (p.His218Pro) n.75+1056A>C | |
2 | g.223053330A>G | CA351121689 | KCNE4 | c.500A>G (p.His167Arg) c.653A>G (p.His218Arg) n.75+1056A>G | ClinVar gnomAD v4 |
2 | g.223053330A>T | CA351121688 | KCNE4 | c.500A>T (p.His167Leu) c.653A>T (p.His218Leu) n.75+1056A>T | gnomAD v4 |
2 | g.223053331T>A | CA351121690 | KCNE4 | c.501T>A (p.His167Gln) c.654T>A (p.His218Gln) n.75+1057T>A | |
2 | g.223053331T>C | CA431595380 | KCNE4 | c.501T>C (p.His167=) c.654T>C (p.His218=) n.75+1057T>C | |
2 | g.223053331T>G | CA351121691 | KCNE4 | c.501T>G (p.His167Gln) c.654T>G (p.His218Gln) n.75+1057T>G | |
2 | g.223053332C>A | CA351121692 | KCNE4 | c.502C>A (p.Gln168Lys) c.655C>A (p.Gln219Lys) n.75+1058C>A | |
2 | g.223053332C>G | CA351121694 | KCNE4 | c.502C>G (p.Gln168Glu) c.655C>G (p.Gln219Glu) n.75+1058C>G | |
2 | g.223053332C>T | CA351121693 | KCNE4 | c.502C>T (p.Gln168Ter) c.655C>T (p.Gln219Ter) n.75+1058C>T | gnomAD v4 COSMIC |
2 | g.223053333A>C | CA351121695 | KCNE4 | c.503A>C (p.Gln168Pro) c.656A>C (p.Gln219Pro) n.75+1059A>C | |
2 | g.223053333A>G | CA351121696 | KCNE4 | c.503A>G (p.Gln168Arg) c.656A>G (p.Gln219Arg) n.75+1059A>G | |
2 | g.223053333A>T | CA351121697 | KCNE4 | c.503A>T (p.Gln168Leu) c.656A>T (p.Gln219Leu) n.75+1059A>T | |
2 | g.223053334G>A | CA431595381 | KCNE4 | c.504G>A (p.Gln168=) c.657G>A (p.Gln219=) n.75+1060G>A | dbSNP |
2 | g.223053334G>C | CA351121698 | KCNE4 | c.504G>C (p.Gln168His) c.657G>C (p.Gln219His) n.75+1060G>C | |
2 | g.223053334G= | CA1330889737 | KCNE4 | c.504G= (p.Gln168=) c.657G= (p.Gln219=) n.75+1060G= | |
2 | g.223053334G>T | CA351121699 | KCNE4 | c.504G>T (p.Gln168His) c.657G>T (p.Gln219His) n.75+1060G>T | gnomAD v4 |
2 | g.223053335A>C | CA351121700 | KCNE4 | c.505A>C (p.Asn169His) c.658A>C (p.Asn220His) n.75+1061A>C | |
2 | g.223053335A>G | CA351121701 | KCNE4 | c.505A>G (p.Asn169Asp) c.658A>G (p.Asn220Asp) n.75+1061A>G | |
2 | g.223053335A>T | CA351121702 | KCNE4 | c.505A>T (p.Asn169Tyr) c.658A>T (p.Asn220Tyr) n.75+1061A>T | |
2 | g.223053336dup | CA2839753940 | KCNE4 | c.506dup (p.Asn169LysfsTer?) c.659dup (p.Asn220LysfsTer?) n.75+1062dup | |
2 | g.223053336A= | CA1330889738 | KCNE4 | c.506A= (p.Asn169=) c.659A= (p.Asn220=) n.75+1062A= | |
2 | g.223053336A>C | CA351121703 | KCNE4 | c.506A>C (p.Asn169Thr) c.659A>C (p.Asn220Thr) n.75+1062A>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.223053336A>G | CA351121704 | KCNE4 | c.506A>G (p.Asn169Ser) c.659A>G (p.Asn220Ser) n.75+1062A>G | |
2 | g.223053336A>T | CA351121705 | KCNE4 | c.506A>T (p.Asn169Ile) c.659A>T (p.Asn220Ile) n.75+1062A>T | |
2 | g.223053337T>A | CA351121707 | KCNE4 | c.507T>A (p.Asn169Lys) c.660T>A (p.Asn220Lys) n.75+1063T>A | |
2 | g.223053337T>C | CA431595382 | KCNE4 | c.507T>C (p.Asn169=) c.660T>C (p.Asn220=) n.75+1063T>C | |
2 | g.223053337T>G | CA351121706 | KCNE4 | c.507T>G (p.Asn169Lys) c.660T>G (p.Asn220Lys) n.75+1063T>G | |
2 | g.223053338T>A | CA351121708 | KCNE4 | c.508T>A (p.Ser170Thr) c.661T>A (p.Ser221Thr) n.75+1064T>A | |
2 | g.223053338T>C | CA351121709 | KCNE4 | c.508T>C (p.Ser170Pro) c.661T>C (p.Ser221Pro) n.75+1064T>C | |
2 | g.223053338T>G | CA351121710 | KCNE4 | c.508T>G (p.Ser170Ala) c.661T>G (p.Ser221Ala) n.75+1064T>G | |
2 | g.223053339C>A | CA351121711 | KCNE4 | c.509C>A (p.Ser170Tyr) c.662C>A (p.Ser221Tyr) n.75+1065C>A | gnomAD v4 |
2 | g.223053339C>G | CA351121712 | KCNE4 | c.509C>G (p.Ser170Cys) c.662C>G (p.Ser221Cys) n.75+1065C>G | |
2 | g.223053339C>T | CA351121713 | KCNE4 | c.509C>T (p.Ser170Phe) c.662C>T (p.Ser221Phe) n.75+1065C>T | |
2 | g.223053340C>A | CA431595383 | KCNE4 | c.510C>A (p.Ser170=) c.663C>A (p.Ser221=) n.75+1066C>A | COSMIC |
2 | g.223053340C>G | CA431595385 | KCNE4 | c.510C>G (p.Ser170=) c.663C>G (p.Ser221=) n.75+1066C>G | gnomAD v4 |
2 | g.223053340C>T | CA431595384 | KCNE4 | c.510C>T (p.Ser170=) c.663C>T (p.Ser221=) n.75+1066C>T | |
2 | g.223053341T>A | CA351121714 | KCNE4 | c.511T>A (p.Ter171Lys) c.664T>A (p.Ter222Lys) n.75+1067T>A | |
2 | g.223053341T>C | CA351121715 | KCNE4 | c.511T>C (p.Ter171Gln) c.664T>C (p.Ter222Gln) n.75+1067T>C | |
2 | g.223053341T>G | CA351121716 | KCNE4 | c.511T>G (p.Ter171Glu) c.664T>G (p.Ter222Glu) n.75+1067T>G | |
2 | g.223053342A>C | CA351121717 | KCNE4 | c.512A>C (p.Ter171Ser) c.665A>C (p.Ter222Ser) n.75+1068A>C | |
2 | g.223053342A>G | CA351121718 | KCNE4 | c.512A>G (p.Ter171Trp) c.665A>G (p.Ter222Trp) n.75+1068A>G | |
2 | g.223053342A>T | CA351121719 | KCNE4 | c.512A>T (p.Ter171Leu) c.665A>T (p.Ter222Leu) n.75+1068A>T | |
2 | g.223053343G>A | CA431595386 | KCNE4 | c.513G>A (p.Ter171=) c.666G>A (p.Ter222=) n.75+1069G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053343G>C | CA351121721 | KCNE4 | c.513G>C (p.Ter171Tyr) c.666G>C (p.Ter222Tyr) n.75+1069G>C | |
2 | g.223053343G= | CA1330889739 | KCNE4 | c.513G= (p.Ter171=) c.666G= (p.Ter222=) n.75+1069G= | |
2 | g.223053343G>T | CA351121720 | KCNE4 | c.513G>T (p.Ter171Tyr) c.666G>T (p.Ter222Tyr) n.75+1069G>T | |
2 | g.223053344dup | CA1330889740 | KCNE4 | c.*1dup (n.*1dup) n.75+1070dup | dbSNP |
2 | g.223053345A= | CA1330889742 | KCNE4 | c.*2A= (n.*2A=) n.75+1071A= | |
2 | g.223053345A>C | CA1330889741 | KCNE4 | c.*2A>C (n.*2A>C) n.75+1071A>C | dbSNP gnomAD v4 |
2 | g.223053345A>T | CA539515961 | KCNE4 | c.*2A>T (n.*2A>T) n.75+1071A>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053346C>A | CA1330889745 | KCNE4 | c.*3C>A (n.*3C>A) n.75+1072C>A | dbSNP gnomAD v4 |
2 | g.223053346C= | CA1330889744 | KCNE4 | c.*3C= (n.*3C=) n.75+1072C= | |
2 | g.223053346C>G | CA2663344331 | KCNE4 | c.*3C>G (n.*3C>G) n.75+1072C>G | gnomAD v4 |
2 | g.223053346C>T | CA2663344330 | KCNE4 | c.*3C>T (n.*3C>T) n.75+1072C>T | gnomAD v4 |
2 | g.223053350dup | CA1330889743 | KCNE4 | c.*7dup (n.*7dup) n.75+1076dup | dbSNP gnomAD v4 |
2 | g.223053350del | CA2663344332 | KCNE4 | c.*7del (n.*7del) n.75+1076del | gnomAD v4 |
2 | g.223053349_223053350del | CA2842461048 | KCNE4 | c.*6_*7del (n.*6_*7del) n.75+1075_75+1076del | |
2 | g.223053347C>A | CA539515962 | KCNE4 | c.*4C>A (n.*4C>A) n.75+1073C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053347C= | CA1330889746 | KCNE4 | c.*4C= (n.*4C=) n.75+1073C= | |
2 | g.223053347C>G | CA539515963 | KCNE4 | c.*4C>G (n.*4C>G) n.75+1073C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053347C>T | CA1330889747 | KCNE4 | c.*4C>T (n.*4C>T) n.75+1073C>T | dbSNP |
2 | g.223053348C>A | CA2137875 | KCNE4 | c.*5C>A (n.*5C>A) n.75+1074C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053348C= | CA1330889748 | KCNE4 | c.*5C= (n.*5C=) n.75+1074C= | |
2 | g.223053348C>T | CA1330889749 | KCNE4 | c.*5C>T (n.*5C>T) n.75+1074C>T | dbSNP gnomAD v4 |
2 | g.223053349C>A | CA2663344333 | KCNE4 | c.*6C>A (n.*6C>A) n.75+1075C>A | gnomAD v4 |
2 | g.223053349C= | CA1330889750 | KCNE4 | c.*6C= (n.*6C=) n.75+1075C= | |
2 | g.223053349C>G | CA2137876 | KCNE4 | c.*6C>G (n.*6C>G) n.75+1075C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.223053350C>A | CA2663344334 | KCNE4 | c.*7C>A (n.*7C>A) n.75+1076C>A | gnomAD v4 |
2 | g.223053350C= | CA1330889751 | KCNE4 | c.*7C= (n.*7C=) n.75+1076C= | |
2 | g.223053350C>T | CA539515964 | KCNE4 | c.*7C>T (n.*7C>T) n.75+1076C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053350_223053351insA | CA2511323250 | KCNE4 | c.*7_*8insA (n.*7_*8insA) n.75+1076_75+1077insA | |
2 | g.223053351G>A | CA539515965 | KCNE4 | c.*8G>A (n.*8G>A) n.75+1077G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053351G>C | CA647533785 | KCNE4 | c.*8G>C (n.*8G>C) n.75+1077G>C | COSMIC COSMIC |
2 | g.223053351G= | CA1330889752 | KCNE4 | c.*8G= (n.*8G=) n.75+1077G= | |
2 | g.223053352G>A | CA2137877 | KCNE4 | c.*9G>A (n.*9G>A) n.75+1078G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053352G>C | CA1330889754 | KCNE4 | c.*9G>C (n.*9G>C) n.75+1078G>C | dbSNP |
2 | g.223053352G= | CA1330889753 | KCNE4 | c.*9G= (n.*9G=) n.75+1078G= | |
2 | g.223053353G>T | CA2663344335 | KCNE4 | c.*10G>T (n.*10G>T) n.75+1079G>T | gnomAD v4 |
2 | g.223053354_223053376del | CA2577258776 | KCNE4 | c.*11_*33del (n.*11_*33del) n.75+1080_75+1102del | |
2 | g.223053354A= | CA1330889755 | KCNE4 | c.*11A= (n.*11A=) n.75+1080A= | |
2 | g.223053354A>C | CA539515966 | KCNE4 | c.*11A>C (n.*11A>C) n.75+1080A>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053354_223053356del | CA2501793811 | KCNE4 | c.*11_*13del (n.*11_*13del) n.75+1080_75+1082del | |
2 | g.223053355C>A | CA2137878 | KCNE4 | c.*12C>A (n.*12C>A) n.75+1081C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053355C= | CA1330889756 | KCNE4 | c.*12C= (n.*12C=) n.75+1081C= | |
2 | g.223053355C>T | CA2137879 | KCNE4 | c.*12C>T (n.*12C>T) n.75+1081C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.223053358dup | CA2842461049 | KCNE4 | c.*15dup (n.*15dup) n.75+1084dup | |
2 | g.223053356C>A | CA2663344336 | KCNE4 | c.*13C>A (n.*13C>A) n.75+1082C>A | gnomAD v4 |
2 | g.223053357C>A | CA2663344337 | KCNE4 | c.*14C>A (n.*14C>A) n.75+1083C>A | gnomAD v4 |
2 | g.223053358C>A | CA2663344338 | KCNE4 | c.*15C>A (n.*15C>A) n.75+1084C>A | gnomAD v4 |
2 | g.223053358C= | CA1330889757 | KCNE4 | c.*15C= (n.*15C=) n.75+1084C= | |
2 | g.223053358C>T | CA539515967 | KCNE4 | c.*15C>T (n.*15C>T) n.75+1084C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053360_223053369del | CA2577258777 | KCNE4 | c.*17_*26del (n.*17_*26del) n.75+1086_75+1095del | |
2 | g.223053359T>A | CA2663344339 | KCNE4 | c.*16T>A (n.*16T>A) n.75+1085T>A | gnomAD v4 |
2 | g.223053359T>C | CA1330889759 | KCNE4 | c.*16T>C (n.*16T>C) n.75+1085T>C | dbSNP gnomAD v4 |
2 | g.223053359T= | CA1330889758 | KCNE4 | c.*16T= (n.*16T=) n.75+1085T= | |
2 | g.223053360G>A | CA2663344340 | KCNE4 | c.*17G>A (n.*17G>A) n.75+1086G>A | gnomAD v4 |
2 | g.223053360G= | CA1330889760 | KCNE4 | c.*17G= (n.*17G=) n.75+1086G= | |
2 | g.223053360G>T | CA1330889761 | KCNE4 | c.*17G>T (n.*17G>T) n.75+1086G>T | dbSNP |
2 | g.223053361C>A | CA2663344341 | KCNE4 | c.*18C>A (n.*18C>A) n.75+1087C>A | gnomAD v4 |
2 | g.223053361C>T | CA2663344342 | KCNE4 | c.*18C>T (n.*18C>T) n.75+1087C>T | gnomAD v4 |
2 | g.223053362C>A | CA2137881 | KCNE4 | c.*19C>A (n.*19C>A) n.75+1088C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.223053362C= | CA1330889763 | KCNE4 | c.*19C= (n.*19C=) n.75+1088C= | |
2 | g.223053362C>G | CA2137880 | KCNE4 | c.*19C>G (n.*19C>G) n.75+1088C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053362C>T | CA1330889762 | KCNE4 | c.*19C>T (n.*19C>T) n.75+1088C>T | dbSNP gnomAD v4 |
2 | g.223053363G= | CA1330889764 | KCNE4 | c.*20G= (n.*20G=) n.75+1089G= | |
2 | g.223053363G>T | CA2137882 | KCNE4 | c.*20G>T (n.*20G>T) n.75+1089G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.223053364G>A | CA2663344343 | KCNE4 | c.*21G>A (n.*21G>A) n.75+1090G>A | gnomAD v4 |
2 | g.223053367del | CA2663344344 | KCNE4 | c.*24del (n.*24del) n.75+1093del | gnomAD v4 |
2 | g.223053367G>A | CA539515968 | KCNE4 | c.*24G>A (n.*24G>A) n.75+1093G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053367G>C | CA2137883 | KCNE4 | c.*24G>C (n.*24G>C) n.75+1093G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053367G= | CA1330889765 | KCNE4 | c.*24G= (n.*24G=) n.75+1093G= | |
2 | g.223053367G>T | CA2663344345 | KCNE4 | c.*24G>T (n.*24G>T) n.75+1093G>T | gnomAD v4 |
2 | g.223053368C>A | CA2663344346 | KCNE4 | c.*25C>A (n.*25C>A) n.75+1094C>A | gnomAD v4 |
2 | g.223053368C= | CA1330889766 | KCNE4 | c.*25C= (n.*25C=) n.75+1094C= | |
2 | g.223053368C>G | CA1330889767 | KCNE4 | c.*25C>G (n.*25C>G) n.75+1094C>G | dbSNP gnomAD v4 |
2 | g.223053368C>T | CA2577258778 | KCNE4 | c.*25C>T (n.*25C>T) n.75+1094C>T |