| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572908C>A | CA16606921 | KCNQ1 | c.582C>A (p.Tyr194Ter) c.478-10527C>A (n.478-10527C>A) c.843C>A (p.Tyr281Ter) c.462C>A (p.Tyr154Ter) c.124-10527C>A (n.124-10527C>A) | ClinVar dbSNP |
| 11 | g.2572908C= | CA1948243208 | KCNQ1 | c.582C= (p.Tyr194=) c.478-10527C= (n.478-10527C=) c.843C= (p.Tyr281=) c.462C= (p.Tyr154=) c.124-10527C= (n.124-10527C=) | |
| 11 | g.2572908C>G | CA379131492 | KCNQ1 | c.582C>G (p.Tyr194Ter) c.478-10527C>G (n.478-10527C>G) c.843C>G (p.Tyr281Ter) c.462C>G (p.Tyr154Ter) c.124-10527C>G (n.124-10527C>G) | |
| 11 | g.2572908C>T | CA472038165 | KCNQ1 | c.582C>T (p.Tyr194=) c.478-10527C>T (n.478-10527C>T) c.843C>T (p.Tyr281=) c.462C>T (p.Tyr154=) c.124-10527C>T (n.124-10527C>T) | ClinVar gnomAD v4 |
| 11 | g.2572909C>A | CA379131494 | KCNQ1 | c.583C>A (p.Leu195Met) c.478-10526C>A (n.478-10526C>A) c.844C>A (p.Leu282Met) c.463C>A (p.Leu155Met) c.124-10526C>A (n.124-10526C>A) | |
| 11 | g.2572909C= | CA1948243209 | KCNQ1 | c.583C= (p.Leu195=) c.478-10526C= (n.478-10526C=) c.844C= (p.Leu282=) c.463C= (p.Leu155=) c.124-10526C= (n.124-10526C=) | |
| 11 | g.2572909C>G | CA216312678 | KCNQ1 | c.583C>G (p.Leu195Val) c.478-10526C>G (n.478-10526C>G) c.844C>G (p.Leu282Val) c.463C>G (p.Leu155Val) c.124-10526C>G (n.124-10526C>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2572909C>T | CA472038166 | KCNQ1 | c.583C>T (p.Leu195=) c.478-10526C>T (n.478-10526C>T) c.844C>T (p.Leu282=) c.463C>T (p.Leu155=) c.124-10526C>T (n.124-10526C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2572910T>A | CA379131499 | KCNQ1 | c.584T>A (p.Leu195Gln) c.478-10525T>A (n.478-10525T>A) c.845T>A (p.Leu282Gln) c.464T>A (p.Leu155Gln) c.124-10525T>A (n.124-10525T>A) | |
| 11 | g.2572910T>C | CA008471 | KCNQ1 | c.584T>C (p.Leu195Pro) c.478-10525T>C (n.478-10525T>C) c.845T>C (p.Leu282Pro) c.464T>C (p.Leu155Pro) c.124-10525T>C (n.124-10525T>C) | ClinVar dbSNP |
| 11 | g.2572910T>G | CA379131501 | KCNQ1 | c.584T>G (p.Leu195Arg) c.478-10525T>G (n.478-10525T>G) c.845T>G (p.Leu282Arg) c.464T>G (p.Leu155Arg) c.124-10525T>G (n.124-10525T>G) | |
| 11 | g.2572910T= | CA1948243210 | KCNQ1 | c.584T= (p.Leu195=) c.478-10525T= (n.478-10525T=) c.845T= (p.Leu282=) c.464T= (p.Leu155=) c.124-10525T= (n.124-10525T=) | |
| 11 | g.2572911G>A | CA472038169 | KCNQ1 | c.585G>A (p.Leu195=) c.478-10524G>A (n.478-10524G>A) c.846G>A (p.Leu282=) c.465G>A (p.Leu155=) c.124-10524G>A (n.124-10524G>A) | |
| 11 | g.2572911G>C | CA472038167 | KCNQ1 | c.585G>C (p.Leu195=) c.478-10524G>C (n.478-10524G>C) c.846G>C (p.Leu282=) c.465G>C (p.Leu155=) c.124-10524G>C (n.124-10524G>C) | |
| 11 | g.2572911G>T | CA472038168 | KCNQ1 | c.585G>T (p.Leu195=) c.478-10524G>T (n.478-10524G>T) c.846G>T (p.Leu282=) c.465G>T (p.Leu155=) c.124-10524G>T (n.124-10524G>T) | |
| 11 | g.2572912G>A | CA379131503 | KCNQ1 | c.586G>A (p.Ala196Thr) c.478-10523G>A (n.478-10523G>A) c.847G>A (p.Ala283Thr) c.466G>A (p.Ala156Thr) c.124-10523G>A (n.124-10523G>A) | |
| 11 | g.2572912G>C | CA16613511 | KCNQ1 | c.586G>C (p.Ala196Pro) c.478-10523G>C (n.478-10523G>C) c.847G>C (p.Ala283Pro) c.466G>C (p.Ala156Pro) c.124-10523G>C (n.124-10523G>C) | ClinVar dbSNP |
| 11 | g.2572912G= | CA1948243211 | KCNQ1 | c.586G= (p.Ala196=) c.478-10523G= (n.478-10523G=) c.847G= (p.Ala283=) c.466G= (p.Ala156=) c.124-10523G= (n.124-10523G=) | |
| 11 | g.2572912G>T | CA379131505 | KCNQ1 | c.586G>T (p.Ala196Ser) c.478-10523G>T (n.478-10523G>T) c.847G>T (p.Ala283Ser) c.466G>T (p.Ala156Ser) c.124-10523G>T (n.124-10523G>T) | ClinVar |
| 11 | g.2572913C>A | CA379131506 | KCNQ1 | c.587C>A (p.Ala196Asp) c.478-10522C>A (n.478-10522C>A) c.848C>A (p.Ala283Asp) c.467C>A (p.Ala156Asp) c.124-10522C>A (n.124-10522C>A) | |
| 11 | g.2572913C= | CA1948243212 | KCNQ1 | c.587C= (p.Ala196=) c.478-10522C= (n.478-10522C=) c.848C= (p.Ala283=) c.467C= (p.Ala156=) c.124-10522C= (n.124-10522C=) | |
| 11 | g.2572913C>G | CA008478 | KCNQ1 | c.587C>G (p.Ala196Gly) c.478-10522C>G (n.478-10522C>G) c.848C>G (p.Ala283Gly) c.467C>G (p.Ala156Gly) c.124-10522C>G (n.124-10522C>G) | ClinVar dbSNP |
| 11 | g.2572913C>T | CA379131509 | KCNQ1 | c.587C>T (p.Ala196Val) c.478-10522C>T (n.478-10522C>T) c.848C>T (p.Ala283Val) c.467C>T (p.Ala156Val) c.124-10522C>T (n.124-10522C>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2572914T>A | CA472038170 | KCNQ1 | c.588T>A (p.Ala196=) c.478-10521T>A (n.478-10521T>A) c.849T>A (p.Ala283=) c.468T>A (p.Ala156=) c.124-10521T>A (n.124-10521T>A) | |
| 11 | g.2572914T>C | CA472038171 | KCNQ1 | c.588T>C (p.Ala196=) c.478-10521T>C (n.478-10521T>C) c.849T>C (p.Ala283=) c.468T>C (p.Ala156=) c.124-10521T>C (n.124-10521T>C) | |
| 11 | g.2572914T>G | CA472038172 | KCNQ1 | c.588T>G (p.Ala196=) c.478-10521T>G (n.478-10521T>G) c.849T>G (p.Ala283=) c.468T>G (p.Ala156=) c.124-10521T>G (n.124-10521T>G) | |
| 11 | g.2572914_2572917delinsTGAG | CA1948243213 | KCNQ1 | c.588_591delinsTGAG (p.Ala196=) c.478-10521_478-10518delinsTGAG (n.478-10521_478-10518delinsTGAG) c.849_852delinsTGAG (p.Ala283=) c.468_471delinsTGAG (p.Ala156=) c.124-10521_124-10518delinsTGAG (n.124-10521_124-10518delinsTGAG) | |
| 11 | g.2572915G>A | CA008486 | KCNQ1 | c.589G>A (p.Glu197Lys) c.478-10520G>A (n.478-10520G>A) c.850G>A (p.Glu284Lys) c.469G>A (p.Glu157Lys) c.124-10520G>A (n.124-10520G>A) | ClinVar dbSNP |
| 11 | g.2572915G>C | CA379131515 | KCNQ1 | c.589G>C (p.Glu197Gln) c.478-10520G>C (n.478-10520G>C) c.850G>C (p.Glu284Gln) c.469G>C (p.Glu157Gln) c.124-10520G>C (n.124-10520G>C) | |
| 11 | g.2572915G= | CA1948243214 | KCNQ1 | c.589G= (p.Glu197=) c.478-10520G= (n.478-10520G=) c.850G= (p.Glu284=) c.469G= (p.Glu157=) c.124-10520G= (n.124-10520G=) | |
| 11 | g.2572915G>T | CA379131513 | KCNQ1 | c.589G>T (p.Glu197Ter) c.478-10520G>T (n.478-10520G>T) c.850G>T (p.Glu284Ter) c.469G>T (p.Glu157Ter) c.124-10520G>T (n.124-10520G>T) | |
| 11 | g.2572915_2572917del | CA16619310 | KCNQ1 | c.589_591del (p.Glu197del) c.478-10520_478-10518del (n.478-10520_478-10518del) c.850_852del (p.Glu284del) c.469_471del (p.Glu157del) c.124-10520_124-10518del (n.124-10520_124-10518del) | ClinVar dbSNP |
| 11 | g.2572916A= | CA1948212019 | KCNQ1 | c.590A= (p.Glu197=) c.478-10519A= (n.478-10519A=) c.851A= (p.Glu284=) c.470A= (p.Glu157=) c.124-10519A= (n.124-10519A=) | |
| 11 | g.2572916A>C | CA379131517 | KCNQ1 | c.590A>C (p.Glu197Ala) c.478-10519A>C (n.478-10519A>C) c.851A>C (p.Glu284Ala) c.470A>C (p.Glu157Ala) c.124-10519A>C (n.124-10519A>C) | |
| 11 | g.2572916A>G | CA379131519 | KCNQ1 | c.590A>G (p.Glu197Gly) c.478-10519A>G (n.478-10519A>G) c.851A>G (p.Glu284Gly) c.470A>G (p.Glu157Gly) c.124-10519A>G (n.124-10519A>G) | ClinVar dbSNP |
| 11 | g.2572916A>T | CA379131521 | KCNQ1 | c.590A>T (p.Glu197Val) c.478-10519A>T (n.478-10519A>T) c.851A>T (p.Glu284Val) c.470A>T (p.Glu157Val) c.124-10519A>T (n.124-10519A>T) | |
| 11 | g.2572917G>A | CA472038173 | KCNQ1 | c.591G>A (p.Glu197=) c.478-10518G>A (n.478-10518G>A) c.852G>A (p.Glu284=) c.471G>A (p.Glu157=) c.124-10518G>A (n.124-10518G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2572917G>C | CA379131523 | KCNQ1 | c.591G>C (p.Glu197Asp) c.478-10518G>C (n.478-10518G>C) c.852G>C (p.Glu284Asp) c.471G>C (p.Glu157Asp) c.124-10518G>C (n.124-10518G>C) | |
| 11 | g.2572917G= | CA1948212034 | KCNQ1 | c.591G= (p.Glu197=) c.478-10518G= (n.478-10518G=) c.852G= (p.Glu284=) c.471G= (p.Glu157=) c.124-10518G= (n.124-10518G=) | |
| 11 | g.2572917G>T | CA379131525 | KCNQ1 | c.591G>T (p.Glu197Asp) c.478-10518G>T (n.478-10518G>T) c.852G>T (p.Glu284Asp) c.471G>T (p.Glu157Asp) c.124-10518G>T (n.124-10518G>T) | |
| 11 | g.2572918A>C | CA379131532 | KCNQ1 | c.592A>C (p.Lys198Gln) c.478-10517A>C (n.478-10517A>C) c.853A>C (p.Lys285Gln) c.472A>C (p.Lys158Gln) c.124-10517A>C (n.124-10517A>C) | |
| 11 | g.2572918A>G | CA379131530 | KCNQ1 | c.592A>G (p.Lys198Glu) c.478-10517A>G (n.478-10517A>G) c.853A>G (p.Lys285Glu) c.472A>G (p.Lys158Glu) c.124-10517A>G (n.124-10517A>G) | |
| 11 | g.2572918A>T | CA379131528 | KCNQ1 | c.592A>T (p.Lys198Ter) c.478-10517A>T (n.478-10517A>T) c.853A>T (p.Lys285Ter) c.472A>T (p.Lys158Ter) c.124-10517A>T (n.124-10517A>T) | |
| 11 | g.2572918_2572926delinsTACTTTGTGTACCTCGTACTTT | CA658655515 | KCNQ1 | c.592_600delinsTACTTTGTGTACCTCGTACTTT (p.Lys198TyrfsTer?) c.478-10517_478-10509delinsTACTTTGTGTACCTCGTACTTT (n.478-10517_478-10509delinsTACTTTGTGTACCTCGTACTTT) c.853_861delinsTACTTTGTGTACCTCGTACTTT (p.Lys285TyrfsTer?) c.472_480delinsTACTTTGTGTACCTCGTACTTT (p.Lys158TyrfsTer?) c.124-10517_124-10509delinsTACTTTGTGTACCTCGTACTTT (n.124-10517_124-10509delinsTACTTTGTGTACCTCGTACTTT) | |
| 11 | g.2572919A>C | CA379131534 | KCNQ1 | c.593A>C (p.Lys198Thr) c.478-10516A>C (n.478-10516A>C) c.854A>C (p.Lys285Thr) c.473A>C (p.Lys158Thr) c.124-10516A>C (n.124-10516A>C) | |
| 11 | g.2572919A>G | CA379131536 | KCNQ1 | c.593A>G (p.Lys198Arg) c.478-10516A>G (n.478-10516A>G) c.854A>G (p.Lys285Arg) c.473A>G (p.Lys158Arg) c.124-10516A>G (n.124-10516A>G) | |
| 11 | g.2572919A>T | CA379131539 | KCNQ1 | c.593A>T (p.Lys198Met) c.478-10516A>T (n.478-10516A>T) c.854A>T (p.Lys285Met) c.473A>T (p.Lys158Met) c.124-10516A>T (n.124-10516A>T) | |
| 11 | g.2572920G>A | CA040953 | KCNQ1 | c.594G>A (p.Lys198=) c.478-10515G>A (n.478-10515G>A) c.855G>A (p.Lys285=) c.474G>A (p.Lys158=) c.124-10515G>A (n.124-10515G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2572920G>C | CA379131542 | KCNQ1 | c.594G>C (p.Lys198Asn) c.478-10515G>C (n.478-10515G>C) c.855G>C (p.Lys285Asn) c.474G>C (p.Lys158Asn) c.124-10515G>C (n.124-10515G>C) | |
| 11 | g.2572920G= | CA1948212041 | KCNQ1 | c.594G= (p.Lys198=) c.478-10515G= (n.478-10515G=) c.855G= (p.Lys285=) c.474G= (p.Lys158=) c.124-10515G= (n.124-10515G=) |