Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2572870_2572884del | CA2695213155 | KCNQ1 | c.544_558del (p.Gly182_Leu186del) c.478-10565_478-10551del (n.478-10565_478-10551del) c.805_819del (p.Gly269_Leu273del) c.424_438del (p.Gly142_Leu146del) c.124-10565_124-10551del (n.124-10565_124-10551del) | |
11 | g.2572874_2572877del | CA2695213156 | KCNQ1 | c.548_551del (p.Phe183TrpfsTer18) c.478-10561_478-10558del (n.478-10561_478-10558del) c.809_812del (p.Phe270TrpfsTer18) c.428_431del (p.Phe143TrpfsTer18) c.124-10561_124-10558del (n.124-10561_124-10558del) c.548_551del (p.Phe183TrpfsTer?) | |
11 | g.2572873T>A | CA379131345 | KCNQ1 | c.547T>A (p.Phe183Ile) c.478-10562T>A (n.478-10562T>A) c.808T>A (p.Phe270Ile) c.427T>A (p.Phe143Ile) c.124-10562T>A (n.124-10562T>A) | |
11 | g.2572873T>C | CA379131347 | KCNQ1 | c.547T>C (p.Phe183Leu) c.478-10562T>C (n.478-10562T>C) c.808T>C (p.Phe270Leu) c.427T>C (p.Phe143Leu) c.124-10562T>C (n.124-10562T>C) | |
11 | g.2572873T>G | CA379131349 | KCNQ1 | c.547T>G (p.Phe183Val) c.478-10562T>G (n.478-10562T>G) c.808T>G (p.Phe270Val) c.427T>G (p.Phe143Val) c.124-10562T>G (n.124-10562T>G) | |
11 | g.2572874T>A | CA379131354 | KCNQ1 | c.548T>A (p.Phe183Tyr) c.478-10561T>A (n.478-10561T>A) c.809T>A (p.Phe270Tyr) c.428T>A (p.Phe143Tyr) c.124-10561T>A (n.124-10561T>A) | |
11 | g.2572874T>C | CA040791 | KCNQ1 | c.548T>C (p.Phe183Ser) c.478-10561T>C (n.478-10561T>C) c.809T>C (p.Phe270Ser) c.428T>C (p.Phe143Ser) c.124-10561T>C (n.124-10561T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2572874T>G | CA379131351 | KCNQ1 | c.548T>G (p.Phe183Cys) c.478-10561T>G (n.478-10561T>G) c.809T>G (p.Phe270Cys) c.428T>G (p.Phe143Cys) c.124-10561T>G (n.124-10561T>G) | |
11 | g.2572874T= | CA1948243183 | KCNQ1 | c.548T= (p.Phe183=) c.478-10561T= (n.478-10561T=) c.809T= (p.Phe270=) c.428T= (p.Phe143=) c.124-10561T= (n.124-10561T=) | |
11 | g.2572874_2572880delinsTCCTGGG | CA1948243184 | KCNQ1 | c.548_554delinsTCCTGGG (p.Phe183=) c.478-10561_478-10555delinsTCCTGGG (n.478-10561_478-10555delinsTCCTGGG) c.809_815delinsTCCTGGG (p.Phe270=) c.428_434delinsTCCTGGG (p.Phe143=) c.124-10561_124-10555delinsTCCTGGG (n.124-10561_124-10555delinsTCCTGGG) | |
11 | g.2572875C>A | CA379131356 | KCNQ1 | c.549C>A (p.Phe183Leu) c.478-10560C>A (n.478-10560C>A) c.810C>A (p.Phe270Leu) c.429C>A (p.Phe143Leu) c.124-10560C>A (n.124-10560C>A) | |
11 | g.2572875C>G | CA379131358 | KCNQ1 | c.549C>G (p.Phe183Leu) c.478-10560C>G (n.478-10560C>G) c.810C>G (p.Phe270Leu) c.429C>G (p.Phe143Leu) c.124-10560C>G (n.124-10560C>G) | |
11 | g.2572875C>T | CA472038143 | KCNQ1 | c.549C>T (p.Phe183=) c.478-10560C>T (n.478-10560C>T) c.810C>T (p.Phe270=) c.429C>T (p.Phe143=) c.124-10560C>T (n.124-10560C>T) | COSMIC COSMIC |
11 | g.2572878_2572883del | CA916079942 | KCNQ1 | c.552_557del (p.Gly185_Leu186del) c.478-10557_478-10552del (n.478-10557_478-10552del) c.813_818del (p.Gly272_Leu273del) c.432_437del (p.Gly145_Leu146del) c.124-10557_124-10552del (n.124-10557_124-10552del) | ClinVar dbSNP |
11 | g.2572876C>A | CA379131360 | KCNQ1 | c.550C>A (p.Leu184Met) c.478-10559C>A (n.478-10559C>A) c.811C>A (p.Leu271Met) c.430C>A (p.Leu144Met) c.124-10559C>A (n.124-10559C>A) | |
11 | g.2572876C= | CA1948243185 | KCNQ1 | c.550C= (p.Leu184=) c.478-10559C= (n.478-10559C=) c.811C= (p.Leu271=) c.430C= (p.Leu144=) c.124-10559C= (n.124-10559C=) | |
11 | g.2572876C>G | CA379131362 | KCNQ1 | c.550C>G (p.Leu184Val) c.478-10559C>G (n.478-10559C>G) c.811C>G (p.Leu271Val) c.430C>G (p.Leu144Val) c.124-10559C>G (n.124-10559C>G) | |
11 | g.2572876C>T | CA008310 | KCNQ1 | c.550C>T (p.Leu184=) c.478-10559C>T (n.478-10559C>T) c.811C>T (p.Leu271=) c.430C>T (p.Leu144=) c.124-10559C>T (n.124-10559C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.2572877T>A | CA379131370 | KCNQ1 | c.551T>A (p.Leu184Gln) c.478-10558T>A (n.478-10558T>A) c.812T>A (p.Leu271Gln) c.431T>A (p.Leu144Gln) c.124-10558T>A (n.124-10558T>A) | |
11 | g.2572877T>C | CA379131368 | KCNQ1 | c.551T>C (p.Leu184Pro) c.478-10558T>C (n.478-10558T>C) c.812T>C (p.Leu271Pro) c.431T>C (p.Leu144Pro) c.124-10558T>C (n.124-10558T>C) | |
11 | g.2572877T>G | CA379131366 | KCNQ1 | c.551T>G (p.Leu184Arg) c.478-10558T>G (n.478-10558T>G) c.812T>G (p.Leu271Arg) c.431T>G (p.Leu144Arg) c.124-10558T>G (n.124-10558T>G) | |
11 | g.2572878G>A | CA472038144 | KCNQ1 | c.552G>A (p.Leu184=) c.478-10557G>A (n.478-10557G>A) c.813G>A (p.Leu271=) c.432G>A (p.Leu144=) c.124-10557G>A (n.124-10557G>A) | gnomAD v4 |
11 | g.2572878G>C | CA472038145 | KCNQ1 | c.552G>C (p.Leu184=) c.478-10557G>C (n.478-10557G>C) c.813G>C (p.Leu271=) c.432G>C (p.Leu144=) c.124-10557G>C (n.124-10557G>C) | |
11 | g.2572878G>T | CA472038146 | KCNQ1 | c.552G>T (p.Leu184=) c.478-10557G>T (n.478-10557G>T) c.813G>T (p.Leu271=) c.432G>T (p.Leu144=) c.124-10557G>T (n.124-10557G>T) | |
11 | g.2572879G>A | CA040822 | KCNQ1 | c.553G>A (p.Gly185Ser) c.478-10556G>A (n.478-10556G>A) c.814G>A (p.Gly272Ser) c.433G>A (p.Gly145Ser) c.124-10556G>A (n.124-10556G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572879G>C | CA379131373 | KCNQ1 | c.553G>C (p.Gly185Arg) c.478-10556G>C (n.478-10556G>C) c.814G>C (p.Gly272Arg) c.433G>C (p.Gly145Arg) c.124-10556G>C (n.124-10556G>C) | |
11 | g.2572879G= | CA1948243186 | KCNQ1 | c.553G= (p.Gly185=) c.478-10556G= (n.478-10556G=) c.814G= (p.Gly272=) c.433G= (p.Gly145=) c.124-10556G= (n.124-10556G=) | |
11 | g.2572879G>T | CA379131374 | KCNQ1 | c.553G>T (p.Gly185Cys) c.478-10556G>T (n.478-10556G>T) c.814G>T (p.Gly272Cys) c.433G>T (p.Gly145Cys) c.124-10556G>T (n.124-10556G>T) | |
11 | g.2572880G>A | CA008316 | KCNQ1 | c.554G>A (p.Gly185Asp) c.478-10555G>A (n.478-10555G>A) c.815G>A (p.Gly272Asp) c.434G>A (p.Gly145Asp) c.124-10555G>A (n.124-10555G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2572880G>C | CA379131377 | KCNQ1 | c.554G>C (p.Gly185Ala) c.478-10555G>C (n.478-10555G>C) c.815G>C (p.Gly272Ala) c.434G>C (p.Gly145Ala) c.124-10555G>C (n.124-10555G>C) | |
11 | g.2572880G= | CA1948243187 | KCNQ1 | c.554G= (p.Gly185=) c.478-10555G= (n.478-10555G=) c.815G= (p.Gly272=) c.434G= (p.Gly145=) c.124-10555G= (n.124-10555G=) | |
11 | g.2572880G>T | CA008323 | KCNQ1 | c.554G>T (p.Gly185Val) c.478-10555G>T (n.478-10555G>T) c.815G>T (p.Gly272Val) c.434G>T (p.Gly145Val) c.124-10555G>T (n.124-10555G>T) | ClinVar dbSNP gnomAD v4 |
11 | g.2572881C>A | CA472038147 | KCNQ1 | c.555C>A (p.Gly185=) c.478-10554C>A (n.478-10554C>A) c.816C>A (p.Gly272=) c.435C>A (p.Gly145=) c.124-10554C>A (n.124-10554C>A) | |
11 | g.2572881C>G | CA472038148 | KCNQ1 | c.555C>G (p.Gly185=) c.478-10554C>G (n.478-10554C>G) c.816C>G (p.Gly272=) c.435C>G (p.Gly145=) c.124-10554C>G (n.124-10554C>G) | |
11 | g.2572881C>T | CA472038149 | KCNQ1 | c.555C>T (p.Gly185=) c.478-10554C>T (n.478-10554C>T) c.816C>T (p.Gly272=) c.435C>T (p.Gly145=) c.124-10554C>T (n.124-10554C>T) | |
11 | g.2572885_2572895del | CA2695213157 | KCNQ1 | c.559_569del (p.Ile187ValfsTer7) c.478-10550_478-10540del (n.478-10550_478-10540del) c.820_830del (p.Ile274ValfsTer7) c.439_449del (p.Ile147ValfsTer7) c.124-10550_124-10540del (n.124-10550_124-10540del) c.559_569del (p.Ile187ValfsTer?) | |
11 | g.2572882C>A | CA379131383 | KCNQ1 | c.556C>A (p.Leu186Ile) c.478-10553C>A (n.478-10553C>A) c.817C>A (p.Leu273Ile) c.436C>A (p.Leu146Ile) c.124-10553C>A (n.124-10553C>A) | ClinVar |
11 | g.2572882C= | CA1948243188 | KCNQ1 | c.556C= (p.Leu186=) c.478-10553C= (n.478-10553C=) c.817C= (p.Leu273=) c.436C= (p.Leu146=) c.124-10553C= (n.124-10553C=) | |
11 | g.2572882C>G | CA379131380 | KCNQ1 | c.556C>G (p.Leu186Val) c.478-10553C>G (n.478-10553C>G) c.817C>G (p.Leu273Val) c.436C>G (p.Leu146Val) c.124-10553C>G (n.124-10553C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572882C>T | CA008331 | KCNQ1 | c.556C>T (p.Leu186Phe) c.478-10553C>T (n.478-10553C>T) c.817C>T (p.Leu273Phe) c.436C>T (p.Leu146Phe) c.124-10553C>T (n.124-10553C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2572883T>A | CA379131385 | KCNQ1 | c.557T>A (p.Leu186His) c.478-10552T>A (n.478-10552T>A) c.818T>A (p.Leu273His) c.437T>A (p.Leu146His) c.124-10552T>A (n.124-10552T>A) | |
11 | g.2572883T>C | CA16613286 | KCNQ1 | c.557T>C (p.Leu186Pro) c.478-10552T>C (n.478-10552T>C) c.818T>C (p.Leu273Pro) c.437T>C (p.Leu146Pro) c.124-10552T>C (n.124-10552T>C) | ClinVar dbSNP |
11 | g.2572883T>G | CA008339 | KCNQ1 | c.557T>G (p.Leu186Arg) c.478-10552T>G (n.478-10552T>G) c.818T>G (p.Leu273Arg) c.437T>G (p.Leu146Arg) c.124-10552T>G (n.124-10552T>G) | ClinVar dbSNP |
11 | g.2572883T= | CA1948243189 | KCNQ1 | c.557T= (p.Leu186=) c.478-10552T= (n.478-10552T=) c.818T= (p.Leu273=) c.437T= (p.Leu146=) c.124-10552T= (n.124-10552T=) | |
11 | g.2572884C>A | CA472038152 | KCNQ1 | c.558C>A (p.Leu186=) c.478-10551C>A (n.478-10551C>A) c.819C>A (p.Leu273=) c.438C>A (p.Leu146=) c.124-10551C>A (n.124-10551C>A) | |
11 | g.2572884C>G | CA472038150 | KCNQ1 | c.558C>G (p.Leu186=) c.478-10551C>G (n.478-10551C>G) c.819C>G (p.Leu273=) c.438C>G (p.Leu146=) c.124-10551C>G (n.124-10551C>G) | |
11 | g.2572884C>T | CA472038151 | KCNQ1 | c.558C>T (p.Leu186=) c.478-10551C>T (n.478-10551C>T) c.819C>T (p.Leu273=) c.438C>T (p.Leu146=) c.124-10551C>T (n.124-10551C>T) | COSMIC COSMIC |
11 | g.2572885A= | CA1948243191 | KCNQ1 | c.559A= (p.Ile187=) c.478-10550A= (n.478-10550A=) c.820A= (p.Ile274=) c.439A= (p.Ile147=) c.124-10550A= (n.124-10550A=) | |
11 | g.2572885A>C | CA379131389 | KCNQ1 | c.559A>C (p.Ile187Leu) c.478-10550A>C (n.478-10550A>C) c.820A>C (p.Ile274Leu) c.439A>C (p.Ile147Leu) c.124-10550A>C (n.124-10550A>C) | |
11 | g.2572885A>G | CA008353 | KCNQ1 | c.559A>G (p.Ile187Val) c.478-10550A>G (n.478-10550A>G) c.820A>G (p.Ile274Val) c.439A>G (p.Ile147Val) c.124-10550A>G (n.124-10550A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572885A>T | CA379131391 | KCNQ1 | c.559A>T (p.Ile187Phe) c.478-10550A>T (n.478-10550A>T) c.820A>T (p.Ile274Phe) c.439A>T (p.Ile147Phe) c.124-10550A>T (n.124-10550A>T) | |
11 | g.2572885_2572888delinsATCT | CA1948243190 | KCNQ1 | c.559_562delinsATCT (p.Ile187=) c.478-10550_478-10547delinsATCT (n.478-10550_478-10547delinsATCT) c.820_823delinsATCT (p.Ile274=) c.439_442delinsATCT (p.Ile147=) c.124-10550_124-10547delinsATCT (n.124-10550_124-10547delinsATCT) | |
11 | g.2572886T>A | CA379131392 | KCNQ1 | c.560T>A (p.Ile187Asn) c.478-10549T>A (n.478-10549T>A) c.821T>A (p.Ile274Asn) c.440T>A (p.Ile147Asn) c.124-10549T>A (n.124-10549T>A) | ClinVar |
11 | g.2572886T>C | CA379131394 | KCNQ1 | c.560T>C (p.Ile187Thr) c.478-10549T>C (n.478-10549T>C) c.821T>C (p.Ile274Thr) c.440T>C (p.Ile147Thr) c.124-10549T>C (n.124-10549T>C) | |
11 | g.2572886T>G | CA379131396 | KCNQ1 | c.560T>G (p.Ile187Ser) c.478-10549T>G (n.478-10549T>G) c.821T>G (p.Ile274Ser) c.440T>G (p.Ile147Ser) c.124-10549T>G (n.124-10549T>G) | |
11 | g.2572889_2572891del | CA008360 | KCNQ1 | c.563_565del (p.Phe188del) c.478-10546_478-10544del (n.478-10546_478-10544del) c.824_826del (p.Phe275del) c.443_445del (p.Phe148del) c.124-10546_124-10544del (n.124-10546_124-10544del) | ClinVar dbSNP |
11 | g.2572887C>A | CA472038153 | KCNQ1 | c.561C>A (p.Ile187=) c.478-10548C>A (n.478-10548C>A) c.822C>A (p.Ile274=) c.441C>A (p.Ile147=) c.124-10548C>A (n.124-10548C>A) | |
11 | g.2572887C>G | CA379131398 | KCNQ1 | c.561C>G (p.Ile187Met) c.478-10548C>G (n.478-10548C>G) c.822C>G (p.Ile274Met) c.441C>G (p.Ile147Met) c.124-10548C>G (n.124-10548C>G) | gnomAD v4 |
11 | g.2572887C>T | CA472038154 | KCNQ1 | c.561C>T (p.Ile187=) c.478-10548C>T (n.478-10548C>T) c.822C>T (p.Ile274=) c.441C>T (p.Ile147=) c.124-10548C>T (n.124-10548C>T) | |
11 | g.2572888T>A | CA379131401 | KCNQ1 | c.562T>A (p.Phe188Ile) c.478-10547T>A (n.478-10547T>A) c.823T>A (p.Phe275Ile) c.442T>A (p.Phe148Ile) c.124-10547T>A (n.124-10547T>A) | |
11 | g.2572888T>C | CA379131403 | KCNQ1 | c.562T>C (p.Phe188Leu) c.478-10547T>C (n.478-10547T>C) c.823T>C (p.Phe275Leu) c.442T>C (p.Phe148Leu) c.124-10547T>C (n.124-10547T>C) | |
11 | g.2572888T>G | CA379131405 | KCNQ1 | c.562T>G (p.Phe188Val) c.478-10547T>G (n.478-10547T>G) c.823T>G (p.Phe275Val) c.442T>G (p.Phe148Val) c.124-10547T>G (n.124-10547T>G) | |
11 | g.2572889T>A | CA379131407 | KCNQ1 | c.563T>A (p.Phe188Tyr) c.478-10546T>A (n.478-10546T>A) c.824T>A (p.Phe275Tyr) c.443T>A (p.Phe148Tyr) c.124-10546T>A (n.124-10546T>A) | |
11 | g.2572889T>C | CA008374 | KCNQ1 | c.563T>C (p.Phe188Ser) c.478-10546T>C (n.478-10546T>C) c.824T>C (p.Phe275Ser) c.443T>C (p.Phe148Ser) c.124-10546T>C (n.124-10546T>C) | ClinVar dbSNP |
11 | g.2572889T>G | CA379131411 | KCNQ1 | c.563T>G (p.Phe188Cys) c.478-10546T>G (n.478-10546T>G) c.824T>G (p.Phe275Cys) c.443T>G (p.Phe148Cys) c.124-10546T>G (n.124-10546T>G) | |
11 | g.2572889T= | CA1948243192 | KCNQ1 | c.563T= (p.Phe188=) c.478-10546T= (n.478-10546T=) c.824T= (p.Phe275=) c.443T= (p.Phe148=) c.124-10546T= (n.124-10546T=) | |
11 | g.2572889_2572892delinsTCTC | CA1948243193 | KCNQ1 | c.563_566delinsTCTC (p.Phe188=) c.478-10546_478-10543delinsTCTC (n.478-10546_478-10543delinsTCTC) c.824_827delinsTCTC (p.Phe275=) c.443_446delinsTCTC (p.Phe148=) c.124-10546_124-10543delinsTCTC (n.124-10546_124-10543delinsTCTC) | |
11 | g.2572890C>A | CA379131412 | KCNQ1 | c.564C>A (p.Phe188Leu) c.478-10545C>A (n.478-10545C>A) c.825C>A (p.Phe275Leu) c.444C>A (p.Phe148Leu) c.124-10545C>A (n.124-10545C>A) | |
11 | g.2572890C>G | CA379131415 | KCNQ1 | c.564C>G (p.Phe188Leu) c.478-10545C>G (n.478-10545C>G) c.825C>G (p.Phe275Leu) c.444C>G (p.Phe148Leu) c.124-10545C>G (n.124-10545C>G) | ClinVar |
11 | g.2572890C>T | CA472038155 | KCNQ1 | c.564C>T (p.Phe188=) c.478-10545C>T (n.478-10545C>T) c.825C>T (p.Phe275=) c.444C>T (p.Phe148=) c.124-10545C>T (n.124-10545C>T) | |
11 | g.2572890_2572891delinsCT | CA1948243194 | KCNQ1 | c.564_565delinsCT (p.Phe188=) c.478-10545_478-10544delinsCT (n.478-10545_478-10544delinsCT) c.825_826delinsCT (p.Phe275=) c.444_445delinsCT (p.Phe148=) c.124-10545_124-10544delinsCT (n.124-10545_124-10544delinsCT) | |
11 | g.2572893_2572895del | CA008383 | KCNQ1 | c.567_569del (p.Ser190del) c.478-10542_478-10540del (n.478-10542_478-10540del) c.828_830del (p.Ser277del) c.447_449del (p.Ser150del) c.124-10542_124-10540del (n.124-10542_124-10540del) | ClinVar dbSNP |
11 | g.2572891del | CA008398 | KCNQ1 | c.565del (p.Ser189ProfsTer13) c.478-10544del (n.478-10544del) c.826del (p.Ser276ProfsTer13) c.445del (p.Ser149ProfsTer13) c.124-10544del (n.124-10544del) c.565del (p.Ser189ProfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2572891T>A | CA379131419 | KCNQ1 | c.565T>A (p.Ser189Thr) c.478-10544T>A (n.478-10544T>A) c.826T>A (p.Ser276Thr) c.445T>A (p.Ser149Thr) c.124-10544T>A (n.124-10544T>A) | |
11 | g.2572891T>C | CA379131420 | KCNQ1 | c.565T>C (p.Ser189Pro) c.478-10544T>C (n.478-10544T>C) c.826T>C (p.Ser276Pro) c.445T>C (p.Ser149Pro) c.124-10544T>C (n.124-10544T>C) | |
11 | g.2572891T>G | CA379131422 | KCNQ1 | c.565T>G (p.Ser189Ala) c.478-10544T>G (n.478-10544T>G) c.826T>G (p.Ser276Ala) c.445T>G (p.Ser149Ala) c.124-10544T>G (n.124-10544T>G) | |
11 | g.2572892C>A | CA379131424 | KCNQ1 | c.566C>A (p.Ser189Tyr) c.478-10543C>A (n.478-10543C>A) c.827C>A (p.Ser276Tyr) c.446C>A (p.Ser149Tyr) c.124-10543C>A (n.124-10543C>A) | |
11 | g.2572892C= | CA1948243195 | KCNQ1 | c.566C= (p.Ser189=) c.478-10543C= (n.478-10543C=) c.827C= (p.Ser276=) c.446C= (p.Ser149=) c.124-10543C= (n.124-10543C=) | |
11 | g.2572892C>G | CA379131427 | KCNQ1 | c.566C>G (p.Ser189Cys) c.478-10543C>G (n.478-10543C>G) c.827C>G (p.Ser276Cys) c.446C>G (p.Ser149Cys) c.124-10543C>G (n.124-10543C>G) | |
11 | g.2572892C>T | CA008405 | KCNQ1 | c.566C>T (p.Ser189Phe) c.478-10543C>T (n.478-10543C>T) c.827C>T (p.Ser276Phe) c.446C>T (p.Ser149Phe) c.124-10543C>T (n.124-10543C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2572893C>A | CA472038156 | KCNQ1 | c.567C>A (p.Ser189=) c.478-10542C>A (n.478-10542C>A) c.828C>A (p.Ser276=) c.447C>A (p.Ser149=) c.124-10542C>A (n.124-10542C>A) | |
11 | g.2572893C= | CA1948243196 | KCNQ1 | c.567C= (p.Ser189=) c.478-10542C= (n.478-10542C=) c.828C= (p.Ser276=) c.447C= (p.Ser149=) c.124-10542C= (n.124-10542C=) | |
11 | g.2572893C>G | CA472038157 | KCNQ1 | c.567C>G (p.Ser189=) c.478-10542C>G (n.478-10542C>G) c.828C>G (p.Ser276=) c.447C>G (p.Ser149=) c.124-10542C>G (n.124-10542C>G) | |
11 | g.2572893C>T | CA472038158 | KCNQ1 | c.567C>T (p.Ser189=) c.478-10542C>T (n.478-10542C>T) c.828C>T (p.Ser276=) c.447C>T (p.Ser149=) c.124-10542C>T (n.124-10542C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2572894T>A | CA379131429 | KCNQ1 | c.568T>A (p.Ser190Thr) c.478-10541T>A (n.478-10541T>A) c.829T>A (p.Ser277Thr) c.448T>A (p.Ser150Thr) c.124-10541T>A (n.124-10541T>A) | |
11 | g.2572894T>C | CA008421 | KCNQ1 | c.568T>C (p.Ser190Pro) c.478-10541T>C (n.478-10541T>C) c.829T>C (p.Ser277Pro) c.448T>C (p.Ser150Pro) c.124-10541T>C (n.124-10541T>C) | ClinVar dbSNP |
11 | g.2572894T>G | CA379131432 | KCNQ1 | c.568T>G (p.Ser190Ala) c.478-10541T>G (n.478-10541T>G) c.829T>G (p.Ser277Ala) c.448T>G (p.Ser150Ala) c.124-10541T>G (n.124-10541T>G) | |
11 | g.2572894T= | CA1948243197 | KCNQ1 | c.568T= (p.Ser190=) c.478-10541T= (n.478-10541T=) c.829T= (p.Ser277=) c.448T= (p.Ser150=) c.124-10541T= (n.124-10541T=) | |
11 | g.2572895_2572897del | CA2695213158 | KCNQ1 | c.569_571del (p.Ser190del) c.478-10540_478-10538del (n.478-10540_478-10538del) c.830_832del (p.Ser277del) c.449_451del (p.Ser150del) c.124-10540_124-10538del (n.124-10540_124-10538del) | |
11 | g.2572895C>A | CA379131437 | KCNQ1 | c.569C>A (p.Ser190Ter) c.478-10540C>A (n.478-10540C>A) c.830C>A (p.Ser277Ter) c.449C>A (p.Ser150Ter) c.124-10540C>A (n.124-10540C>A) | |
11 | g.2572895C= | CA1948243198 | KCNQ1 | c.569C= (p.Ser190=) c.478-10540C= (n.478-10540C=) c.830C= (p.Ser277=) c.449C= (p.Ser150=) c.124-10540C= (n.124-10540C=) | |
11 | g.2572895C>G | CA008428 | KCNQ1 | c.569C>G (p.Ser190Trp) c.478-10540C>G (n.478-10540C>G) c.830C>G (p.Ser277Trp) c.449C>G (p.Ser150Trp) c.124-10540C>G (n.124-10540C>G) | ClinVar dbSNP |
11 | g.2572895C>T | CA008437 | KCNQ1 | c.569C>T (p.Ser190Leu) c.478-10540C>T (n.478-10540C>T) c.830C>T (p.Ser277Leu) c.449C>T (p.Ser150Leu) c.124-10540C>T (n.124-10540C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2572896G>A | CA040883 | KCNQ1 | c.570G>A (p.Ser190=) c.478-10539G>A (n.478-10539G>A) c.831G>A (p.Ser277=) c.450G>A (p.Ser150=) c.124-10539G>A (n.124-10539G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2572896G>C | CA040895 | KCNQ1 | c.570G>C (p.Ser190=) c.478-10539G>C (n.478-10539G>C) c.831G>C (p.Ser277=) c.450G>C (p.Ser150=) c.124-10539G>C (n.124-10539G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2572896G= | CA1948243199 | KCNQ1 | c.570G= (p.Ser190=) c.478-10539G= (n.478-10539G=) c.831G= (p.Ser277=) c.450G= (p.Ser150=) c.124-10539G= (n.124-10539G=) | |
11 | g.2572896G>T | CA472038159 | KCNQ1 | c.570G>T (p.Ser190=) c.478-10539G>T (n.478-10539G>T) c.831G>T (p.Ser277=) c.450G>T (p.Ser150=) c.124-10539G>T (n.124-10539G>T) | |
11 | g.2572897T>A | CA379131442 | KCNQ1 | c.571T>A (p.Tyr191Asn) c.478-10538T>A (n.478-10538T>A) c.832T>A (p.Tyr278Asn) c.451T>A (p.Tyr151Asn) c.124-10538T>A (n.124-10538T>A) | |
11 | g.2572897T>C | CA008446 | KCNQ1 | c.571T>C (p.Tyr191His) c.478-10538T>C (n.478-10538T>C) c.832T>C (p.Tyr278His) c.451T>C (p.Tyr151His) c.124-10538T>C (n.124-10538T>C) | ClinVar dbSNP |
11 | g.2572897T>G | CA379131445 | KCNQ1 | c.571T>G (p.Tyr191Asp) c.478-10538T>G (n.478-10538T>G) c.832T>G (p.Tyr278Asp) c.451T>G (p.Tyr151Asp) c.124-10538T>G (n.124-10538T>G) | |
11 | g.2572897T= | CA1948243200 | KCNQ1 | c.571T= (p.Tyr191=) c.478-10538T= (n.478-10538T=) c.832T= (p.Tyr278=) c.451T= (p.Tyr151=) c.124-10538T= (n.124-10538T=) | |
11 | g.2572898A>C | CA379131448 | KCNQ1 | c.572A>C (p.Tyr191Ser) c.478-10537A>C (n.478-10537A>C) c.833A>C (p.Tyr278Ser) c.452A>C (p.Tyr151Ser) c.124-10537A>C (n.124-10537A>C) | |
11 | g.2572898A>G | CA379131449 | KCNQ1 | c.572A>G (p.Tyr191Cys) c.478-10537A>G (n.478-10537A>G) c.833A>G (p.Tyr278Cys) c.452A>G (p.Tyr151Cys) c.124-10537A>G (n.124-10537A>G) | |
11 | g.2572898A>T | CA379131451 | KCNQ1 | c.572A>T (p.Tyr191Phe) c.478-10537A>T (n.478-10537A>T) c.833A>T (p.Tyr278Phe) c.452A>T (p.Tyr151Phe) c.124-10537A>T (n.124-10537A>T) | |
11 | g.2572899C>A | CA379131453 | KCNQ1 | c.573C>A (p.Tyr191Ter) c.478-10536C>A (n.478-10536C>A) c.834C>A (p.Tyr278Ter) c.453C>A (p.Tyr151Ter) c.124-10536C>A (n.124-10536C>A) | |
11 | g.2572899C= | CA1948243201 | KCNQ1 | c.573C= (p.Tyr191=) c.478-10536C= (n.478-10536C=) c.834C= (p.Tyr278=) c.453C= (p.Tyr151=) c.124-10536C= (n.124-10536C=) | |
11 | g.2572899C>G | CA379131455 | KCNQ1 | c.573C>G (p.Tyr191Ter) c.478-10536C>G (n.478-10536C>G) c.834C>G (p.Tyr278Ter) c.453C>G (p.Tyr151Ter) c.124-10536C>G (n.124-10536C>G) | ClinVar dbSNP |
11 | g.2572899C>T | CA472038160 | KCNQ1 | c.573C>T (p.Tyr191=) c.478-10536C>T (n.478-10536C>T) c.834C>T (p.Tyr278=) c.453C>T (p.Tyr151=) c.124-10536C>T (n.124-10536C>T) | |
11 | g.2572900T>A | CA16044372 | KCNQ1 | c.574T>A (p.Phe192Ile) c.478-10535T>A (n.478-10535T>A) c.835T>A (p.Phe279Ile) c.454T>A (p.Phe152Ile) c.124-10535T>A (n.124-10535T>A) | ClinVar dbSNP gnomAD v4 |
11 | g.2572900T>C | CA379131456 | KCNQ1 | c.574T>C (p.Phe192Leu) c.478-10535T>C (n.478-10535T>C) c.835T>C (p.Phe279Leu) c.454T>C (p.Phe152Leu) c.124-10535T>C (n.124-10535T>C) | |
11 | g.2572900T>G | CA379131459 | KCNQ1 | c.574T>G (p.Phe192Val) c.478-10535T>G (n.478-10535T>G) c.835T>G (p.Phe279Val) c.454T>G (p.Phe152Val) c.124-10535T>G (n.124-10535T>G) | |
11 | g.2572900T= | CA1948243202 | KCNQ1 | c.574T= (p.Phe192=) c.478-10535T= (n.478-10535T=) c.835T= (p.Phe279=) c.454T= (p.Phe152=) c.124-10535T= (n.124-10535T=) | |
11 | g.2572902dup | CA2573146075 | KCNQ1 | c.576dup (p.Val193CysfsTer5) c.478-10533dup (n.478-10533dup) c.837dup (p.Val280CysfsTer5) c.456dup (p.Val153CysfsTer5) c.124-10533dup (n.124-10533dup) c.576dup (p.Val193CysfsTer?) | ClinVar dbSNP |
11 | g.2572901T>A | CA379131461 | KCNQ1 | c.575T>A (p.Phe192Tyr) c.478-10534T>A (n.478-10534T>A) c.836T>A (p.Phe279Tyr) c.455T>A (p.Phe152Tyr) c.124-10534T>A (n.124-10534T>A) | |
11 | g.2572901T>C | CA379131465 | KCNQ1 | c.575T>C (p.Phe192Ser) c.478-10534T>C (n.478-10534T>C) c.836T>C (p.Phe279Ser) c.455T>C (p.Phe152Ser) c.124-10534T>C (n.124-10534T>C) | |
11 | g.2572901T>G | CA379131463 | KCNQ1 | c.575T>G (p.Phe192Cys) c.478-10534T>G (n.478-10534T>G) c.836T>G (p.Phe279Cys) c.455T>G (p.Phe152Cys) c.124-10534T>G (n.124-10534T>G) | ClinVar dbSNP |
11 | g.2572901T= | CA1948243203 | KCNQ1 | c.575T= (p.Phe192=) c.478-10534T= (n.478-10534T=) c.836T= (p.Phe279=) c.455T= (p.Phe152=) c.124-10534T= (n.124-10534T=) | |
11 | g.2572902T>A | CA379131467 | KCNQ1 | c.576T>A (p.Phe192Leu) c.478-10533T>A (n.478-10533T>A) c.837T>A (p.Phe279Leu) c.456T>A (p.Phe152Leu) c.124-10533T>A (n.124-10533T>A) | |
11 | g.2572902T>C | CA472038161 | KCNQ1 | c.576T>C (p.Phe192=) c.478-10533T>C (n.478-10533T>C) c.837T>C (p.Phe279=) c.456T>C (p.Phe152=) c.124-10533T>C (n.124-10533T>C) | ClinVar dbSNP gnomAD v4 |
11 | g.2572902T>G | CA379131469 | KCNQ1 | c.576T>G (p.Phe192Leu) c.478-10533T>G (n.478-10533T>G) c.837T>G (p.Phe279Leu) c.456T>G (p.Phe152Leu) c.124-10533T>G (n.124-10533T>G) | gnomAD v4 |
11 | g.2572902_2572903delinsTG | CA1948243204 | KCNQ1 | c.576_577delinsTG (p.Phe192=) c.478-10533_478-10532delinsTG (n.478-10533_478-10532delinsTG) c.837_838delinsTG (p.Phe279=) c.456_457delinsTG (p.Phe152=) c.124-10533_124-10532delinsTG (n.124-10533_124-10532delinsTG) | |
11 | g.2572903del | CA674974978 | KCNQ1 | c.577del (p.Val193CysfsTer9) c.478-10532del (n.478-10532del) c.838del (p.Val280CysfsTer9) c.457del (p.Val153CysfsTer9) c.124-10532del (n.124-10532del) c.577del (p.Val193CysfsTer?) | dbSNP |
11 | g.2572903G>A | CA379131471 | KCNQ1 | c.577G>A (p.Val193Met) c.478-10532G>A (n.478-10532G>A) c.838G>A (p.Val280Met) c.457G>A (p.Val153Met) c.124-10532G>A (n.124-10532G>A) | |
11 | g.2572903G>C | CA379131473 | KCNQ1 | c.577G>C (p.Val193Leu) c.478-10532G>C (n.478-10532G>C) c.838G>C (p.Val280Leu) c.457G>C (p.Val153Leu) c.124-10532G>C (n.124-10532G>C) | |
11 | g.2572903G>T | CA379131475 | KCNQ1 | c.577G>T (p.Val193Leu) c.478-10532G>T (n.478-10532G>T) c.838G>T (p.Val280Leu) c.457G>T (p.Val153Leu) c.124-10532G>T (n.124-10532G>T) | |
11 | g.2572903dup | CA2840405427 | KCNQ1 | c.577dup (p.Val193GlyfsTer5) c.478-10532dup (n.478-10532dup) c.838dup (p.Val280GlyfsTer5) c.457dup (p.Val153GlyfsTer5) c.124-10532dup (n.124-10532dup) c.577dup (p.Val193GlyfsTer?) | |
11 | g.2572904T>A | CA008454 | KCNQ1 | c.578T>A (p.Val193Glu) c.478-10531T>A (n.478-10531T>A) c.839T>A (p.Val280Glu) c.458T>A (p.Val153Glu) c.124-10531T>A (n.124-10531T>A) | ClinVar dbSNP gnomAD v4 |
11 | g.2572904T>C | CA379131479 | KCNQ1 | c.578T>C (p.Val193Ala) c.478-10531T>C (n.478-10531T>C) c.839T>C (p.Val280Ala) c.458T>C (p.Val153Ala) c.124-10531T>C (n.124-10531T>C) | ClinVar gnomAD v4 |
11 | g.2572904T>G | CA379131481 | KCNQ1 | c.578T>G (p.Val193Gly) c.478-10531T>G (n.478-10531T>G) c.839T>G (p.Val280Gly) c.458T>G (p.Val153Gly) c.124-10531T>G (n.124-10531T>G) | |
11 | g.2572904T= | CA1948243205 | KCNQ1 | c.578T= (p.Val193=) c.478-10531T= (n.478-10531T=) c.839T= (p.Val280=) c.458T= (p.Val153=) c.124-10531T= (n.124-10531T=) | |
11 | g.2572905G>A | CA472038162 | KCNQ1 | c.579G>A (p.Val193=) c.478-10530G>A (n.478-10530G>A) c.840G>A (p.Val280=) c.459G>A (p.Val153=) c.124-10530G>A (n.124-10530G>A) | |
11 | g.2572905G>C | CA472038163 | KCNQ1 | c.579G>C (p.Val193=) c.478-10530G>C (n.478-10530G>C) c.840G>C (p.Val280=) c.459G>C (p.Val153=) c.124-10530G>C (n.124-10530G>C) | gnomAD v4 |
11 | g.2572905G= | CA1948243206 | KCNQ1 | c.579G= (p.Val193=) c.478-10530G= (n.478-10530G=) c.840G= (p.Val280=) c.459G= (p.Val153=) c.124-10530G= (n.124-10530G=) | |
11 | g.2572905G>T | CA472038164 | KCNQ1 | c.579G>T (p.Val193=) c.478-10530G>T (n.478-10530G>T) c.840G>T (p.Val280=) c.459G>T (p.Val153=) c.124-10530G>T (n.124-10530G>T) | ClinVar dbSNP gnomAD v4 |
11 | g.2572906T>A | CA379131482 | KCNQ1 | c.580T>A (p.Tyr194Asn) c.478-10529T>A (n.478-10529T>A) c.841T>A (p.Tyr281Asn) c.460T>A (p.Tyr154Asn) c.124-10529T>A (n.124-10529T>A) c.580T>A | |
11 | g.2572906T>C | CA379131484 | KCNQ1 | c.580T>C (p.Tyr194His) c.478-10529T>C (n.478-10529T>C) c.841T>C (p.Tyr281His) c.460T>C (p.Tyr154His) c.124-10529T>C (n.124-10529T>C) c.580T>C | |
11 | g.2572906T>G | CA379131486 | KCNQ1 | c.580T>G (p.Tyr194Asp) c.478-10529T>G (n.478-10529T>G) c.841T>G (p.Tyr281Asp) c.460T>G (p.Tyr154Asp) c.124-10529T>G (n.124-10529T>G) c.580T>G | |
11 | g.2572907A= | CA1948243207 | KCNQ1 | c.581A= (p.Tyr194=) c.478-10528A= (n.478-10528A=) c.842A= (p.Tyr281=) c.461A= (p.Tyr154=) c.124-10528A= (n.124-10528A=) | |
11 | g.2572907A>C | CA379131488 | KCNQ1 | c.581A>C (p.Tyr194Ser) c.478-10528A>C (n.478-10528A>C) c.842A>C (p.Tyr281Ser) c.461A>C (p.Tyr154Ser) c.124-10528A>C (n.124-10528A>C) | |
11 | g.2572907A>G | CA008464 | KCNQ1 | c.581A>G (p.Tyr194Cys) c.478-10528A>G (n.478-10528A>G) c.842A>G (p.Tyr281Cys) c.461A>G (p.Tyr154Cys) c.124-10528A>G (n.124-10528A>G) | ClinVar dbSNP |
11 | g.2572907A>T | CA379131490 | KCNQ1 | c.581A>T (p.Tyr194Phe) c.478-10528A>T (n.478-10528A>T) c.842A>T (p.Tyr281Phe) c.461A>T (p.Tyr154Phe) c.124-10528A>T (n.124-10528A>T) | |
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) | ClinVar |
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.2572919dup | CA2840405428 | KCNQ1 | c.593dup (p.Asp199GlyfsTer?) c.478-10516dup (n.478-10516dup) c.854dup (p.Asp286GlyfsTer?) c.473dup (p.Asp159GlyfsTer?) c.124-10516dup (n.124-10516dup) | |
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=) | |
11 | g.2572920G>T | CA379131543 | KCNQ1 | c.594G>T (p.Lys198Asn) c.478-10515G>T (n.478-10515G>T) c.855G>T (p.Lys285Asn) c.474G>T (p.Lys158Asn) c.124-10515G>T (n.124-10515G>T) | |
11 | g.2572921G>A | CA379131546 | KCNQ1 | c.595G>A (p.Asp199Asn) c.478-10514G>A (n.478-10514G>A) c.856G>A (p.Asp286Asn) c.475G>A (p.Asp159Asn) c.124-10514G>A (n.124-10514G>A) | gnomAD v4 |
11 | g.2572921G>C | CA379131544 | KCNQ1 | c.595G>C (p.Asp199His) c.478-10514G>C (n.478-10514G>C) c.856G>C (p.Asp286His) c.475G>C (p.Asp159His) c.124-10514G>C (n.124-10514G>C) | |
11 | g.2572921G>T | CA379131545 | KCNQ1 | c.595G>T (p.Asp199Tyr) c.478-10514G>T (n.478-10514G>T) c.856G>T (p.Asp286Tyr) c.475G>T (p.Asp159Tyr) c.124-10514G>T (n.124-10514G>T) | |
11 | g.2572922A= | CA1948212056 | KCNQ1 | c.596A= (p.Asp199=) c.478-10513A= (n.478-10513A=) c.857A= (p.Asp286=) c.476A= (p.Asp159=) c.124-10513A= (n.124-10513A=) | |
11 | g.2572922A>C | CA379131547 | KCNQ1 | c.596A>C (p.Asp199Ala) c.478-10513A>C (n.478-10513A>C) c.857A>C (p.Asp286Ala) c.476A>C (p.Asp159Ala) c.124-10513A>C (n.124-10513A>C) | |
11 | g.2572922A>G | CA379131548 | KCNQ1 | c.596A>G (p.Asp199Gly) c.478-10513A>G (n.478-10513A>G) c.857A>G (p.Asp286Gly) c.476A>G (p.Asp159Gly) c.124-10513A>G (n.124-10513A>G) | dbSNP |
11 | g.2572922A>T | CA379131549 | KCNQ1 | c.596A>T (p.Asp199Val) c.478-10513A>T (n.478-10513A>T) c.857A>T (p.Asp286Val) c.476A>T (p.Asp159Val) c.124-10513A>T (n.124-10513A>T) | |
11 | g.2572922_2572941delinsACGCGGTGAACGAGTCAGGC | CA1948212052 | KCNQ1 | c.596_615delinsACGCGGTGAACGAGTCAGGC (p.Asp199=) c.478-10513_478-10494delinsACGCGGTGAACGAGTCAGGC (n.478-10513_478-10494delinsACGCGGTGAACGAGTCAGGC) c.857_876delinsACGCGGTGAACGAGTCAGGC (p.Asp286=) c.476_495delinsACGCGGTGAACGAGTCAGGC (p.Asp159=) c.124-10513_124-10494delinsACGCGGTGAACGAGTCAGGC (n.124-10513_124-10494delinsACGCGGTGAACGAGTCAGGC) | |
11 | g.2572923C>A | CA379131550 | KCNQ1 | c.597C>A (p.Asp199Glu) c.478-10512C>A (n.478-10512C>A) c.858C>A (p.Asp286Glu) c.477C>A (p.Asp159Glu) c.124-10512C>A (n.124-10512C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2572923C= | CA1948212061 | KCNQ1 | c.597C= (p.Asp199=) c.478-10512C= (n.478-10512C=) c.858C= (p.Asp286=) c.477C= (p.Asp159=) c.124-10512C= (n.124-10512C=) | |
11 | g.2572923C>G | CA379131551 | KCNQ1 | c.597C>G (p.Asp199Glu) c.478-10512C>G (n.478-10512C>G) c.858C>G (p.Asp286Glu) c.477C>G (p.Asp159Glu) c.124-10512C>G (n.124-10512C>G) | gnomAD v4 |
11 | g.2572923C>T | CA040965 | KCNQ1 | c.597C>T (p.Asp199=) c.478-10512C>T (n.478-10512C>T) c.858C>T (p.Asp286=) c.477C>T (p.Asp159=) c.124-10512C>T (n.124-10512C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572927_2572945del | CA008499 | KCNQ1 | c.601_619del (p.Val201TrpfsTer?) c.478-10508_478-10490del (n.478-10508_478-10490del) c.862_880del (p.Val288TrpfsTer?) c.481_499del (p.Val161TrpfsTer?) c.124-10508_124-10490del (n.124-10508_124-10490del) | ClinVar dbSNP gnomAD v4 |
11 | g.2572924G>A | CA040978 | KCNQ1 | c.598G>A (p.Ala200Thr) c.478-10511G>A (n.478-10511G>A) c.859G>A (p.Ala287Thr) c.478G>A (p.Ala160Thr) c.124-10511G>A (n.124-10511G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.2572924G>C | CA379131552 | KCNQ1 | c.598G>C (p.Ala200Pro) c.478-10511G>C (n.478-10511G>C) c.859G>C (p.Ala287Pro) c.478G>C (p.Ala160Pro) c.124-10511G>C (n.124-10511G>C) | |
11 | g.2572924G= | CA1948212067 | KCNQ1 | c.598G= (p.Ala200=) c.478-10511G= (n.478-10511G=) c.859G= (p.Ala287=) c.478G= (p.Ala160=) c.124-10511G= (n.124-10511G=) | |
11 | g.2572924G>T | CA040994 | KCNQ1 | c.598G>T (p.Ala200Ser) c.478-10511G>T (n.478-10511G>T) c.859G>T (p.Ala287Ser) c.478G>T (p.Ala160Ser) c.124-10511G>T (n.124-10511G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572925C>A | CA008494 | KCNQ1 | c.599C>A (p.Ala200Glu) c.478-10510C>A (n.478-10510C>A) c.860C>A (p.Ala287Glu) c.479C>A (p.Ala160Glu) c.124-10510C>A (n.124-10510C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572925C= | CA1948212085 | KCNQ1 | c.599C= (p.Ala200=) c.478-10510C= (n.478-10510C=) c.860C= (p.Ala287=) c.479C= (p.Ala160=) c.124-10510C= (n.124-10510C=) | |
11 | g.2572925C>G | CA379131553 | KCNQ1 | c.599C>G (p.Ala200Gly) c.478-10510C>G (n.478-10510C>G) c.860C>G (p.Ala287Gly) c.479C>G (p.Ala160Gly) c.124-10510C>G (n.124-10510C>G) | |
11 | g.2572925C>T | CA379131554 | KCNQ1 | c.599C>T (p.Ala200Val) c.478-10510C>T (n.478-10510C>T) c.860C>T (p.Ala287Val) c.479C>T (p.Ala160Val) c.124-10510C>T (n.124-10510C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2572926G>A | CA041034 | KCNQ1 | c.600G>A (p.Ala200=) c.478-10509G>A (n.478-10509G>A) c.861G>A (p.Ala287=) c.480G>A (p.Ala160=) c.124-10509G>A (n.124-10509G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572926G>C | CA472038174 | KCNQ1 | c.600G>C (p.Ala200=) c.478-10509G>C (n.478-10509G>C) c.861G>C (p.Ala287=) c.480G>C (p.Ala160=) c.124-10509G>C (n.124-10509G>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2572926G= | CA1948212097 | KCNQ1 | c.600G= (p.Ala200=) c.478-10509G= (n.478-10509G=) c.861G= (p.Ala287=) c.480G= (p.Ala160=) c.124-10509G= (n.124-10509G=) | |
11 | g.2572926G>T | CA472038175 | KCNQ1 | c.600G>T (p.Ala200=) c.478-10509G>T (n.478-10509G>T) c.861G>T (p.Ala287=) c.480G>T (p.Ala160=) c.124-10509G>T (n.124-10509G>T) | |
11 | g.2572927G>A | CA379131556 | KCNQ1 | c.601G>A (p.Val201Met) c.478-10508G>A (n.478-10508G>A) c.862G>A (p.Val288Met) c.481G>A (p.Val161Met) c.124-10508G>A (n.124-10508G>A) | ClinVar dbSNP gnomAD v4 |
11 | g.2572927G>C | CA379131555 | KCNQ1 | c.601G>C (p.Val201Leu) c.478-10508G>C (n.478-10508G>C) c.862G>C (p.Val288Leu) c.481G>C (p.Val161Leu) c.124-10508G>C (n.124-10508G>C) | |
11 | g.2572927G= | CA1948212102 | KCNQ1 | c.601G= (p.Val201=) c.478-10508G= (n.478-10508G=) c.862G= (p.Val288=) c.481G= (p.Val161=) c.124-10508G= (n.124-10508G=) | |
11 | g.2572927G>T | CA216312748 | KCNQ1 | c.601G>T (p.Val201Leu) c.478-10508G>T (n.478-10508G>T) c.862G>T (p.Val288Leu) c.481G>T (p.Val161Leu) c.124-10508G>T (n.124-10508G>T) | dbSNP gnomAD v4 |
11 | g.2572928T>A | CA379131559 | KCNQ1 | c.602T>A (p.Val201Glu) c.478-10507T>A (n.478-10507T>A) c.863T>A (p.Val288Glu) c.482T>A (p.Val161Glu) c.124-10507T>A (n.124-10507T>A) | |
11 | g.2572928T>C | CA379131557 | KCNQ1 | c.602T>C (p.Val201Ala) c.478-10507T>C (n.478-10507T>C) c.863T>C (p.Val288Ala) c.482T>C (p.Val161Ala) c.124-10507T>C (n.124-10507T>C) | |
11 | g.2572928T>G | CA379131558 | KCNQ1 | c.602T>G (p.Val201Gly) c.478-10507T>G (n.478-10507T>G) c.863T>G (p.Val288Gly) c.482T>G (p.Val161Gly) c.124-10507T>G (n.124-10507T>G) | |
11 | g.2572929G>A | CA472038176 | KCNQ1 | c.603G>A (p.Val201=) c.478-10506G>A (n.478-10506G>A) c.864G>A (p.Val288=) c.483G>A (p.Val161=) c.124-10506G>A (n.124-10506G>A) | ClinVar gnomAD v4 |
11 | g.2572929G>C | CA472038178 | KCNQ1 | c.603G>C (p.Val201=) c.478-10506G>C (n.478-10506G>C) c.864G>C (p.Val288=) c.483G>C (p.Val161=) c.124-10506G>C (n.124-10506G>C) | |
11 | g.2572929G>T | CA472038177 | KCNQ1 | c.603G>T (p.Val201=) c.478-10506G>T (n.478-10506G>T) c.864G>T (p.Val288=) c.483G>T (p.Val161=) c.124-10506G>T (n.124-10506G>T) | gnomAD v4 |
11 | g.2572930A>C | CA379131560 | KCNQ1 | c.604A>C (p.Asn202His) c.478-10505A>C (n.478-10505A>C) c.865A>C (p.Asn289His) c.484A>C (p.Asn162His) c.124-10505A>C (n.124-10505A>C) | |
11 | g.2572930A>G | CA379131561 | KCNQ1 | c.604A>G (p.Asn202Asp) c.478-10505A>G (n.478-10505A>G) c.865A>G (p.Asn289Asp) c.484A>G (p.Asn162Asp) c.124-10505A>G (n.124-10505A>G) | ClinVar |
11 | g.2572930A>T | CA379131562 | KCNQ1 | c.604A>T (p.Asn202Tyr) c.478-10505A>T (n.478-10505A>T) c.865A>T (p.Asn289Tyr) c.484A>T (p.Asn162Tyr) c.124-10505A>T (n.124-10505A>T) | |
11 | g.2572931A>C | CA379131563 | KCNQ1 | c.605A>C (p.Asn202Thr) c.478-10504A>C (n.478-10504A>C) c.866A>C (p.Asn289Thr) c.485A>C (p.Asn162Thr) c.124-10504A>C (n.124-10504A>C) | |
11 | g.2572931A>G | CA379131564 | KCNQ1 | c.605A>G (p.Asn202Ser) c.478-10504A>G (n.478-10504A>G) c.866A>G (p.Asn289Ser) c.485A>G (p.Asn162Ser) c.124-10504A>G (n.124-10504A>G) | |
11 | g.2572931A>T | CA379131565 | KCNQ1 | c.605A>T (p.Asn202Ile) c.478-10504A>T (n.478-10504A>T) c.866A>T (p.Asn289Ile) c.485A>T (p.Asn162Ile) c.124-10504A>T (n.124-10504A>T) | |
11 | g.2572932C>A | CA379131566 | KCNQ1 | c.606C>A (p.Asn202Lys) c.478-10503C>A (n.478-10503C>A) c.867C>A (p.Asn289Lys) c.486C>A (p.Asn162Lys) c.124-10503C>A (n.124-10503C>A) | |
11 | g.2572932C= | CA1948212115 | KCNQ1 | c.606C= (p.Asn202=) c.478-10503C= (n.478-10503C=) c.867C= (p.Asn289=) c.486C= (p.Asn162=) c.124-10503C= (n.124-10503C=) | |
11 | g.2572932C>G | CA379131567 | KCNQ1 | c.606C>G (p.Asn202Lys) c.478-10503C>G (n.478-10503C>G) c.867C>G (p.Asn289Lys) c.486C>G (p.Asn162Lys) c.124-10503C>G (n.124-10503C>G) | |
11 | g.2572932C>T | CA472038179 | KCNQ1 | c.606C>T (p.Asn202=) c.478-10503C>T (n.478-10503C>T) c.867C>T (p.Asn289=) c.486C>T (p.Asn162=) c.124-10503C>T (n.124-10503C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572933G>A | CA008514 | KCNQ1 | c.607G>A (p.Glu203Lys) c.478-10502G>A (n.478-10502G>A) c.868G>A (p.Glu290Lys) c.487G>A (p.Glu163Lys) c.124-10502G>A (n.124-10502G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572933G>C | CA379131569 | KCNQ1 | c.607G>C (p.Glu203Gln) c.478-10502G>C (n.478-10502G>C) c.868G>C (p.Glu290Gln) c.487G>C (p.Glu163Gln) c.124-10502G>C (n.124-10502G>C) | gnomAD v4 |
11 | g.2572933G= | CA1948212124 | KCNQ1 | c.607G= (p.Glu203=) c.478-10502G= (n.478-10502G=) c.868G= (p.Glu290=) c.487G= (p.Glu163=) c.124-10502G= (n.124-10502G=) | |
11 | g.2572933G>T | CA379131571 | KCNQ1 | c.607G>T (p.Glu203Ter) c.478-10502G>T (n.478-10502G>T) c.868G>T (p.Glu290Ter) c.487G>T (p.Glu163Ter) c.124-10502G>T (n.124-10502G>T) | |
11 | g.2572934A>C | CA379131573 | KCNQ1 | c.608A>C (p.Glu203Ala) c.478-10501A>C (n.478-10501A>C) c.869A>C (p.Glu290Ala) c.488A>C (p.Glu163Ala) c.124-10501A>C (n.124-10501A>C) | |
11 | g.2572934A>G | CA379131576 | KCNQ1 | c.608A>G (p.Glu203Gly) c.478-10501A>G (n.478-10501A>G) c.869A>G (p.Glu290Gly) c.488A>G (p.Glu163Gly) c.124-10501A>G (n.124-10501A>G) | ClinVar |
11 | g.2572934A>T | CA379131574 | KCNQ1 | c.608A>T (p.Glu203Val) c.478-10501A>T (n.478-10501A>T) c.869A>T (p.Glu290Val) c.488A>T (p.Glu163Val) c.124-10501A>T (n.124-10501A>T) | |
11 | g.2572935G>A | CA472038180 | KCNQ1 | c.609G>A (p.Glu203=) c.478-10500G>A (n.478-10500G>A) c.870G>A (p.Glu290=) c.489G>A (p.Glu163=) c.124-10500G>A (n.124-10500G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2572935G>C | CA379131577 | KCNQ1 | c.609G>C (p.Glu203Asp) c.478-10500G>C (n.478-10500G>C) c.870G>C (p.Glu290Asp) c.489G>C (p.Glu163Asp) c.124-10500G>C (n.124-10500G>C) | |
11 | g.2572935G= | CA1948212135 | KCNQ1 | c.609G= (p.Glu203=) c.478-10500G= (n.478-10500G=) c.870G= (p.Glu290=) c.489G= (p.Glu163=) c.124-10500G= (n.124-10500G=) | |
11 | g.2572935G>T | CA379131579 | KCNQ1 | c.609G>T (p.Glu203Asp) c.478-10500G>T (n.478-10500G>T) c.870G>T (p.Glu290Asp) c.489G>T (p.Glu163Asp) c.124-10500G>T (n.124-10500G>T) | |
11 | g.2572936T>A | CA379131582 | KCNQ1 | c.610T>A (p.Ser204Thr) c.478-10499T>A (n.478-10499T>A) c.871T>A (p.Ser291Thr) c.490T>A (p.Ser164Thr) c.124-10499T>A (n.124-10499T>A) | |
11 | g.2572936T>C | CA379131583 | KCNQ1 | c.610T>C (p.Ser204Pro) c.478-10499T>C (n.478-10499T>C) c.871T>C (p.Ser291Pro) c.490T>C (p.Ser164Pro) c.124-10499T>C (n.124-10499T>C) | |
11 | g.2572936T>G | CA379131585 | KCNQ1 | c.610T>G (p.Ser204Ala) c.478-10499T>G (n.478-10499T>G) c.871T>G (p.Ser291Ala) c.490T>G (p.Ser164Ala) c.124-10499T>G (n.124-10499T>G) | |
11 | g.2572937C>A | CA379131588 | KCNQ1 | c.611C>A (p.Ser204Ter) c.478-10498C>A (n.478-10498C>A) c.872C>A (p.Ser291Ter) c.491C>A (p.Ser164Ter) c.124-10498C>A (n.124-10498C>A) | gnomAD v4 |
11 | g.2572937C= | CA1948212142 | KCNQ1 | c.611C= (p.Ser204=) c.478-10498C= (n.478-10498C=) c.872C= (p.Ser291=) c.491C= (p.Ser164=) c.124-10498C= (n.124-10498C=) | |
11 | g.2572937C>G | CA379131590 | KCNQ1 | c.611C>G (p.Ser204Ter) c.478-10498C>G (n.478-10498C>G) c.872C>G (p.Ser291Ter) c.491C>G (p.Ser164Ter) c.124-10498C>G (n.124-10498C>G) | |
11 | g.2572937C>T | CA379131592 | KCNQ1 | c.611C>T (p.Ser204Leu) c.478-10498C>T (n.478-10498C>T) c.872C>T (p.Ser291Leu) c.491C>T (p.Ser164Leu) c.124-10498C>T (n.124-10498C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2572938A= | CA1948212171 | KCNQ1 | c.612A= (p.Ser204=) c.478-10497A= (n.478-10497A=) c.873A= (p.Ser291=) c.492A= (p.Ser164=) c.124-10497A= (n.124-10497A=) | |
11 | g.2572938A>C | CA472038181 | KCNQ1 | c.612A>C (p.Ser204=) c.478-10497A>C (n.478-10497A>C) c.873A>C (p.Ser291=) c.492A>C (p.Ser164=) c.124-10497A>C (n.124-10497A>C) | |
11 | g.2572938A>G | CA472038182 | KCNQ1 | c.612A>G (p.Ser204=) c.478-10497A>G (n.478-10497A>G) c.873A>G (p.Ser291=) c.492A>G (p.Ser164=) c.124-10497A>G (n.124-10497A>G) | ClinVar dbSNP gnomAD v4 |
11 | g.2572938A>T | CA472038183 | KCNQ1 | c.612A>T (p.Ser204=) c.478-10497A>T (n.478-10497A>T) c.873A>T (p.Ser291=) c.492A>T (p.Ser164=) c.124-10497A>T (n.124-10497A>T) | |
11 | g.2572939G>A | CA379131594 | KCNQ1 | c.613G>A (p.Gly205Ser) c.478-10496G>A (n.478-10496G>A) c.874G>A (p.Gly292Ser) c.493G>A (p.Gly165Ser) c.124-10496G>A (n.124-10496G>A) | |
11 | g.2572939G>C | CA379131597 | KCNQ1 | c.613G>C (p.Gly205Arg) c.478-10496G>C (n.478-10496G>C) c.874G>C (p.Gly292Arg) c.493G>C (p.Gly165Arg) c.124-10496G>C (n.124-10496G>C) | |
11 | g.2572939G>T | CA379131599 | KCNQ1 | c.613G>T (p.Gly205Cys) c.478-10496G>T (n.478-10496G>T) c.874G>T (p.Gly292Cys) c.493G>T (p.Gly165Cys) c.124-10496G>T (n.124-10496G>T) | |
11 | g.2572940G>A | CA008520 | KCNQ1 | c.614G>A (p.Gly205Asp) c.478-10495G>A (n.478-10495G>A) c.875G>A (p.Gly292Asp) c.494G>A (p.Gly165Asp) c.124-10495G>A (n.124-10495G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572940G>C | CA379131605 | KCNQ1 | c.614G>C (p.Gly205Ala) c.478-10495G>C (n.478-10495G>C) c.875G>C (p.Gly292Ala) c.494G>C (p.Gly165Ala) c.124-10495G>C (n.124-10495G>C) | |
11 | g.2572940G= | CA1948212180 | KCNQ1 | c.614G= (p.Gly205=) c.478-10495G= (n.478-10495G=) c.875G= (p.Gly292=) c.494G= (p.Gly165=) c.124-10495G= (n.124-10495G=) | |
11 | g.2572940G>T | CA379131602 | KCNQ1 | c.614G>T (p.Gly205Val) c.478-10495G>T (n.478-10495G>T) c.875G>T (p.Gly292Val) c.494G>T (p.Gly165Val) c.124-10495G>T (n.124-10495G>T) | |
11 | g.2572941C>A | CA472038184 | KCNQ1 | c.615C>A (p.Gly205=) c.478-10494C>A (n.478-10494C>A) c.876C>A (p.Gly292=) c.495C>A (p.Gly165=) c.124-10494C>A (n.124-10494C>A) | |
11 | g.2572941C= | CA1948212189 | KCNQ1 | c.615C= (p.Gly205=) c.478-10494C= (n.478-10494C=) c.876C= (p.Gly292=) c.495C= (p.Gly165=) c.124-10494C= (n.124-10494C=) | |
11 | g.2572941C>G | CA472038185 | KCNQ1 | c.615C>G (p.Gly205=) c.478-10494C>G (n.478-10494C>G) c.876C>G (p.Gly292=) c.495C>G (p.Gly165=) c.124-10494C>G (n.124-10494C>G) | COSMIC COSMIC |
11 | g.2572941C>T | CA216312760 | KCNQ1 | c.615C>T (p.Gly205=) c.478-10494C>T (n.478-10494C>T) c.876C>T (p.Gly292=) c.495C>T (p.Gly165=) c.124-10494C>T (n.124-10494C>T) | dbSNP gnomAD v4 |
11 | g.2572942C>A | CA379131607 | KCNQ1 | c.616C>A (p.Arg206Ser) c.478-10493C>A (n.478-10493C>A) c.877C>A (p.Arg293Ser) c.496C>A (p.Arg166Ser) c.124-10493C>A (n.124-10493C>A) | gnomAD v4 |
11 | g.2572942C= | CA1948212196 | KCNQ1 | c.616C= (p.Arg206=) c.478-10493C= (n.478-10493C=) c.877C= (p.Arg293=) c.496C= (p.Arg166=) c.124-10493C= (n.124-10493C=) | |
11 | g.2572942C>G | CA379131610 | KCNQ1 | c.616C>G (p.Arg206Gly) c.478-10493C>G (n.478-10493C>G) c.877C>G (p.Arg293Gly) c.496C>G (p.Arg166Gly) c.124-10493C>G (n.124-10493C>G) | |
11 | g.2572942C>T | CA008527 | KCNQ1 | c.616C>T (p.Arg206Cys) c.478-10493C>T (n.478-10493C>T) c.877C>T (p.Arg293Cys) c.496C>T (p.Arg166Cys) c.124-10493C>T (n.124-10493C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572943G>A | CA008532 | KCNQ1 | c.617G>A (p.Arg206His) c.478-10492G>A (n.478-10492G>A) c.878G>A (p.Arg293His) c.497G>A (p.Arg166His) c.124-10492G>A (n.124-10492G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.2572943G>C | CA379131611 | KCNQ1 | c.617G>C (p.Arg206Pro) c.478-10492G>C (n.478-10492G>C) c.878G>C (p.Arg293Pro) c.497G>C (p.Arg166Pro) c.124-10492G>C (n.124-10492G>C) | |
11 | g.2572943G= | CA1948212205 | KCNQ1 | c.617G= (p.Arg206=) c.478-10492G= (n.478-10492G=) c.878G= (p.Arg293=) c.497G= (p.Arg166=) c.124-10492G= (n.124-10492G=) | |
11 | g.2572943G>T | CA216312773 | KCNQ1 | c.617G>T (p.Arg206Leu) c.478-10492G>T (n.478-10492G>T) c.878G>T (p.Arg293Leu) c.497G>T (p.Arg166Leu) c.124-10492G>T (n.124-10492G>T) | dbSNP |
11 | g.2572944C>A | CA041155 | KCNQ1 | c.618C>A (p.Arg206=) c.478-10491C>A (n.478-10491C>A) c.879C>A (p.Arg293=) c.498C>A (p.Arg166=) c.124-10491C>A (n.124-10491C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572944C= | CA1948212215 | KCNQ1 | c.618C= (p.Arg206=) c.478-10491C= (n.478-10491C=) c.879C= (p.Arg293=) c.498C= (p.Arg166=) c.124-10491C= (n.124-10491C=) | |
11 | g.2572944C>G | CA472038186 | KCNQ1 | c.618C>G (p.Arg206=) c.478-10491C>G (n.478-10491C>G) c.879C>G (p.Arg293=) c.498C>G (p.Arg166=) c.124-10491C>G (n.124-10491C>G) | |
11 | g.2572944C>T | CA041171 | KCNQ1 | c.618C>T (p.Arg206=) c.478-10491C>T (n.478-10491C>T) c.879C>T (p.Arg293=) c.498C>T (p.Arg166=) c.124-10491C>T (n.124-10491C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572945G>A | CA041183 | KCNQ1 | c.619G>A (p.Val207Met) c.478-10490G>A (n.478-10490G>A) c.880G>A (p.Val294Met) c.499G>A (p.Val167Met) c.124-10490G>A (n.124-10490G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572945G>C | CA379131614 | KCNQ1 | c.619G>C (p.Val207Leu) c.478-10490G>C (n.478-10490G>C) c.880G>C (p.Val294Leu) c.499G>C (p.Val167Leu) c.124-10490G>C (n.124-10490G>C) | |
11 | g.2572945G= | CA1948212223 | KCNQ1 | c.619G= (p.Val207=) c.478-10490G= (n.478-10490G=) c.880G= (p.Val294=) c.499G= (p.Val167=) c.124-10490G= (n.124-10490G=) | |
11 | g.2572945G>T | CA379131617 | KCNQ1 | c.619G>T (p.Val207Leu) c.478-10490G>T (n.478-10490G>T) c.880G>T (p.Val294Leu) c.499G>T (p.Val167Leu) c.124-10490G>T (n.124-10490G>T) | gnomAD v4 |
11 | g.2572946T>A | CA379131619 | KCNQ1 | c.620T>A (p.Val207Glu) c.478-10489T>A (n.478-10489T>A) c.881T>A (p.Val294Glu) c.500T>A (p.Val167Glu) c.124-10489T>A (n.124-10489T>A) | |
11 | g.2572946T>C | CA379131620 | KCNQ1 | c.620T>C (p.Val207Ala) c.478-10489T>C (n.478-10489T>C) c.881T>C (p.Val294Ala) c.500T>C (p.Val167Ala) c.124-10489T>C (n.124-10489T>C) | |
11 | g.2572946T>G | CA379131622 | KCNQ1 | c.620T>G (p.Val207Gly) c.478-10489T>G (n.478-10489T>G) c.881T>G (p.Val294Gly) c.500T>G (p.Val167Gly) c.124-10489T>G (n.124-10489T>G) | |
11 | g.2572947G>A | CA472038187 | KCNQ1 | c.621G>A (p.Val207=) c.478-10488G>A (n.478-10488G>A) c.882G>A (p.Val294=) c.501G>A (p.Val167=) c.124-10488G>A (n.124-10488G>A) | |
11 | g.2572947G>C | CA472038188 | KCNQ1 | c.621G>C (p.Val207=) c.478-10488G>C (n.478-10488G>C) c.882G>C (p.Val294=) c.501G>C (p.Val167=) c.124-10488G>C (n.124-10488G>C) | |
11 | g.2572947G>T | CA472038189 | KCNQ1 | c.621G>T (p.Val207=) c.478-10488G>T (n.478-10488G>T) c.882G>T (p.Val294=) c.501G>T (p.Val167=) c.124-10488G>T (n.124-10488G>T) | |
11 | g.2572948G>A | CA379131627 | KCNQ1 | c.622G>A (p.Glu208Lys) c.478-10487G>A (n.478-10487G>A) c.883G>A (p.Glu295Lys) c.502G>A (p.Glu168Lys) c.124-10487G>A (n.124-10487G>A) | |
11 | g.2572948G>C | CA379131626 | KCNQ1 | c.622G>C (p.Glu208Gln) c.478-10487G>C (n.478-10487G>C) c.883G>C (p.Glu295Gln) c.502G>C (p.Glu168Gln) c.124-10487G>C (n.124-10487G>C) | |
11 | g.2572948G>T | CA379131625 | KCNQ1 | c.622G>T (p.Glu208Ter) c.478-10487G>T (n.478-10487G>T) c.883G>T (p.Glu295Ter) c.502G>T (p.Glu168Ter) c.124-10487G>T (n.124-10487G>T) | |
11 | g.2572949A>C | CA379131628 | KCNQ1 | c.623A>C (p.Glu208Ala) c.478-10486A>C (n.478-10486A>C) c.884A>C (p.Glu295Ala) c.503A>C (p.Glu168Ala) c.124-10486A>C (n.124-10486A>C) | |
11 | g.2572949A>G | CA379131630 | KCNQ1 | c.623A>G (p.Glu208Gly) c.478-10486A>G (n.478-10486A>G) c.884A>G (p.Glu295Gly) c.503A>G (p.Glu168Gly) c.124-10486A>G (n.124-10486A>G) | |
11 | g.2572949A>T | CA379131632 | KCNQ1 | c.623A>T (p.Glu208Val) c.478-10486A>T (n.478-10486A>T) c.884A>T (p.Glu295Val) c.503A>T (p.Glu168Val) c.124-10486A>T (n.124-10486A>T) | |
11 | g.2572950G>A | CA472038190 | KCNQ1 | c.624G>A (p.Glu208=) c.478-10485G>A (n.478-10485G>A) c.885G>A (p.Glu295=) c.504G>A (p.Glu168=) c.124-10485G>A (n.124-10485G>A) | ClinVar gnomAD v4 |
11 | g.2572950G>C | CA379131634 | KCNQ1 | c.624G>C (p.Glu208Asp) c.478-10485G>C (n.478-10485G>C) c.885G>C (p.Glu295Asp) c.504G>C (p.Glu168Asp) c.124-10485G>C (n.124-10485G>C) | |
11 | g.2572950G>T | CA379131636 | KCNQ1 | c.624G>T (p.Glu208Asp) c.478-10485G>T (n.478-10485G>T) c.885G>T (p.Glu295Asp) c.504G>T (p.Glu168Asp) c.124-10485G>T (n.124-10485G>T) | |
11 | g.2572951T>A | CA379131638 | KCNQ1 | c.625T>A (p.Phe209Ile) c.478-10484T>A (n.478-10484T>A) c.886T>A (p.Phe296Ile) c.505T>A (p.Phe169Ile) c.124-10484T>A (n.124-10484T>A) | |
11 | g.2572951T>C | CA379131640 | KCNQ1 | c.625T>C (p.Phe209Leu) c.478-10484T>C (n.478-10484T>C) c.886T>C (p.Phe296Leu) c.505T>C (p.Phe169Leu) c.124-10484T>C (n.124-10484T>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2572951T>G | CA379131642 | KCNQ1 | c.625T>G (p.Phe209Val) c.478-10484T>G (n.478-10484T>G) c.886T>G (p.Phe296Val) c.505T>G (p.Phe169Val) c.124-10484T>G (n.124-10484T>G) | |
11 | g.2572952T>A | CA379131643 | KCNQ1 | c.626T>A (p.Phe209Tyr) c.478-10483T>A (n.478-10483T>A) c.887T>A (p.Phe296Tyr) c.506T>A (p.Phe169Tyr) c.124-10483T>A (n.124-10483T>A) | |
11 | g.2572952T>C | CA008541 | KCNQ1 | c.626T>C (p.Phe209Ser) c.478-10483T>C (n.478-10483T>C) c.887T>C (p.Phe296Ser) c.506T>C (p.Phe169Ser) c.124-10483T>C (n.124-10483T>C) | ClinVar dbSNP |
11 | g.2572952T>G | CA379131646 | KCNQ1 | c.626T>G (p.Phe209Cys) c.478-10483T>G (n.478-10483T>G) c.887T>G (p.Phe296Cys) c.506T>G (p.Phe169Cys) c.124-10483T>G (n.124-10483T>G) | |
11 | g.2572952T= | CA1948212235 | KCNQ1 | c.626T= (p.Phe209=) c.478-10483T= (n.478-10483T=) c.887T= (p.Phe296=) c.506T= (p.Phe169=) c.124-10483T= (n.124-10483T=) | |
11 | g.2572953C>A | CA379131652 | KCNQ1 | c.627C>A (p.Phe209Leu) c.478-10482C>A (n.478-10482C>A) c.888C>A (p.Phe296Leu) c.507C>A (p.Phe169Leu) c.124-10482C>A (n.124-10482C>A) | |
11 | g.2572953C= | CA1948212242 | KCNQ1 | c.627C= (p.Phe209=) c.478-10482C= (n.478-10482C=) c.888C= (p.Phe296=) c.507C= (p.Phe169=) c.124-10482C= (n.124-10482C=) | |
11 | g.2572953C>G | CA379131651 | KCNQ1 | c.627C>G (p.Phe209Leu) c.478-10482C>G (n.478-10482C>G) c.888C>G (p.Phe296Leu) c.507C>G (p.Phe169Leu) c.124-10482C>G (n.124-10482C>G) | |
11 | g.2572953C>T | CA041199 | KCNQ1 | c.627C>T (p.Phe209=) c.478-10482C>T (n.478-10482C>T) c.888C>T (p.Phe296=) c.507C>T (p.Phe169=) c.124-10482C>T (n.124-10482C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.2572954G>A | CA008547 | KCNQ1 | c.628G>A (p.Gly210Ser) c.478-10481G>A (n.478-10481G>A) c.889G>A (p.Gly297Ser) c.508G>A (p.Gly170Ser) c.124-10481G>A (n.124-10481G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572954G>C | CA041239 | KCNQ1 | c.628G>C (p.Gly210Arg) c.478-10481G>C (n.478-10481G>C) c.889G>C (p.Gly297Arg) c.508G>C (p.Gly170Arg) c.124-10481G>C (n.124-10481G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2572954G= | CA1948212251 | KCNQ1 | c.628G= (p.Gly210=) c.478-10481G= (n.478-10481G=) c.889G= (p.Gly297=) c.508G= (p.Gly170=) c.124-10481G= (n.124-10481G=) | |
11 | g.2572954G>T | CA379131655 | KCNQ1 | c.628G>T (p.Gly210Cys) c.478-10481G>T (n.478-10481G>T) c.889G>T (p.Gly297Cys) c.508G>T (p.Gly170Cys) c.124-10481G>T (n.124-10481G>T) | |
11 | g.2572955G>A | CA041258 | KCNQ1 | c.629G>A (p.Gly210Asp) c.478-10480G>A (n.478-10480G>A) c.890G>A (p.Gly297Asp) c.509G>A (p.Gly170Asp) c.124-10480G>A (n.124-10480G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2572955G>C | CA379131658 | KCNQ1 | c.629G>C (p.Gly210Ala) c.478-10480G>C (n.478-10480G>C) c.890G>C (p.Gly297Ala) c.509G>C (p.Gly170Ala) c.124-10480G>C (n.124-10480G>C) | |
11 | g.2572955G= | CA1948212260 | KCNQ1 | c.629G= (p.Gly210=) c.478-10480G= (n.478-10480G=) c.890G= (p.Gly297=) c.509G= (p.Gly170=) c.124-10480G= (n.124-10480G=) | |
11 | g.2572955G>T | CA379131660 | KCNQ1 | c.629G>T (p.Gly210Val) c.478-10480G>T (n.478-10480G>T) c.890G>T (p.Gly297Val) c.509G>T (p.Gly170Val) c.124-10480G>T (n.124-10480G>T) | |
11 | g.2572956C>A | CA041271 | KCNQ1 | c.630C>A (p.Gly210=) c.478-10479C>A (n.478-10479C>A) c.891C>A (p.Gly297=) c.510C>A (p.Gly170=) c.124-10479C>A (n.124-10479C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2572956C= | CA1948212263 | KCNQ1 | c.630C= (p.Gly210=) c.478-10479C= (n.478-10479C=) c.891C= (p.Gly297=) c.510C= (p.Gly170=) c.124-10479C= (n.124-10479C=) | |
11 | g.2572956C>G | CA472038191 | KCNQ1 | c.630C>G (p.Gly210=) c.478-10479C>G (n.478-10479C>G) c.891C>G (p.Gly297=) c.510C>G (p.Gly170=) c.124-10479C>G (n.124-10479C>G) | |
11 | g.2572956C>T | CA472038192 | KCNQ1 | c.630C>T (p.Gly210=) c.478-10479C>T (n.478-10479C>T) c.891C>T (p.Gly297=) c.510C>T (p.Gly170=) c.124-10479C>T (n.124-10479C>T) | |
11 | g.2572957A>C | CA379131663 | KCNQ1 | c.631A>C (p.Ser211Arg) c.478-10478A>C (n.478-10478A>C) c.892A>C (p.Ser298Arg) c.511A>C (p.Ser171Arg) c.124-10478A>C (n.124-10478A>C) | |
11 | g.2572957A>G | CA379131664 | KCNQ1 | c.631A>G (p.Ser211Gly) c.478-10478A>G (n.478-10478A>G) c.892A>G (p.Ser298Gly) c.511A>G (p.Ser171Gly) c.124-10478A>G (n.124-10478A>G) | |
11 | g.2572957A>T | CA379131666 | KCNQ1 | c.631A>T (p.Ser211Cys) c.478-10478A>T (n.478-10478A>T) c.892A>T (p.Ser298Cys) c.511A>T (p.Ser171Cys) c.124-10478A>T (n.124-10478A>T) | |
11 | g.2572958G>A | CA379131669 | KCNQ1 | c.632G>A (p.Ser211Asn) c.478-10477G>A (n.478-10477G>A) c.893G>A (p.Ser298Asn) c.512G>A (p.Ser171Asn) c.124-10477G>A (n.124-10477G>A) | dbSNP gnomAD v2 |
11 | g.2572958G>C | CA379131671 | KCNQ1 | c.632G>C (p.Ser211Thr) c.478-10477G>C (n.478-10477G>C) c.893G>C (p.Ser298Thr) c.512G>C (p.Ser171Thr) c.124-10477G>C (n.124-10477G>C) | gnomAD v4 |
11 | g.2572958G= | CA1948212271 | KCNQ1 | c.632G= (p.Ser211=) c.478-10477G= (n.478-10477G=) c.893G= (p.Ser298=) c.512G= (p.Ser171=) c.124-10477G= (n.124-10477G=) | |
11 | g.2572958G>T | CA379131674 | KCNQ1 | c.632G>T (p.Ser211Ile) c.478-10477G>T (n.478-10477G>T) c.893G>T (p.Ser298Ile) c.512G>T (p.Ser171Ile) c.124-10477G>T (n.124-10477G>T) | |
11 | g.2572959C>A | CA379131678 | KCNQ1 | c.633C>A (p.Ser211Arg) c.478-10476C>A (n.478-10476C>A) c.894C>A (p.Ser298Arg) c.513C>A (p.Ser171Arg) c.124-10476C>A (n.124-10476C>A) | ClinVar |
11 | g.2572959C= | CA1948212276 | KCNQ1 | c.633C= (p.Ser211=) c.478-10476C= (n.478-10476C=) c.894C= (p.Ser298=) c.513C= (p.Ser171=) c.124-10476C= (n.124-10476C=) | |
11 | g.2572959C>G | CA379131676 | KCNQ1 | c.633C>G (p.Ser211Arg) c.478-10476C>G (n.478-10476C>G) c.894C>G (p.Ser298Arg) c.513C>G (p.Ser171Arg) c.124-10476C>G (n.124-10476C>G) | dbSNP |
11 | g.2572959C>T | CA472038193 | KCNQ1 | c.633C>T (p.Ser211=) c.478-10476C>T (n.478-10476C>T) c.894C>T (p.Ser298=) c.513C>T (p.Ser171=) c.124-10476C>T (n.124-10476C>T) | |
11 | g.2572960T>A | CA379131681 | KCNQ1 | c.634T>A (p.Tyr212Asn) c.478-10475T>A (n.478-10475T>A) c.895T>A (p.Tyr299Asn) c.514T>A (p.Tyr172Asn) c.124-10475T>A (n.124-10475T>A) | |
11 | g.2572960T>C | CA379131682 | KCNQ1 | c.634T>C (p.Tyr212His) c.478-10475T>C (n.478-10475T>C) c.895T>C (p.Tyr299His) c.514T>C (p.Tyr172His) c.124-10475T>C (n.124-10475T>C) | |
11 | g.2572960T>G | CA379131684 | KCNQ1 | c.634T>G (p.Tyr212Asp) c.478-10475T>G (n.478-10475T>G) c.895T>G (p.Tyr299Asp) c.514T>G (p.Tyr172Asp) c.124-10475T>G (n.124-10475T>G) | |
11 | g.2572961A>C | CA379131686 | KCNQ1 | c.635A>C (p.Tyr212Ser) c.478-10474A>C (n.478-10474A>C) c.896A>C (p.Tyr299Ser) c.515A>C (p.Tyr172Ser) c.124-10474A>C (n.124-10474A>C) | |
11 | g.2572961A>G | CA379131688 | KCNQ1 | c.635A>G (p.Tyr212Cys) c.478-10474A>G (n.478-10474A>G) c.896A>G (p.Tyr299Cys) c.515A>G (p.Tyr172Cys) c.124-10474A>G (n.124-10474A>G) | |
11 | g.2572961A>T | CA379131689 | KCNQ1 | c.635A>T (p.Tyr212Phe) c.478-10474A>T (n.478-10474A>T) c.896A>T (p.Tyr299Phe) c.515A>T (p.Tyr172Phe) c.124-10474A>T (n.124-10474A>T) | |
11 | g.2572962C>A | CA379131690 | KCNQ1 | c.636C>A (p.Tyr212Ter) c.478-10473C>A (n.478-10473C>A) c.897C>A (p.Tyr299Ter) c.516C>A (p.Tyr172Ter) c.124-10473C>A (n.124-10473C>A) | |
11 | g.2572962C= | CA1948212281 | KCNQ1 | c.636C= (p.Tyr212=) c.478-10473C= (n.478-10473C=) c.897C= (p.Tyr299=) c.516C= (p.Tyr172=) c.124-10473C= (n.124-10473C=) | |
11 | g.2572962C>G | CA379131691 | KCNQ1 | c.636C>G (p.Tyr212Ter) c.478-10473C>G (n.478-10473C>G) c.897C>G (p.Tyr299Ter) c.516C>G (p.Tyr172Ter) c.124-10473C>G (n.124-10473C>G) | |
11 | g.2572962C>T | CA041293 | KCNQ1 | c.636C>T (p.Tyr212=) c.478-10473C>T (n.478-10473C>T) c.897C>T (p.Tyr299=) c.516C>T (p.Tyr172=) c.124-10473C>T (n.124-10473C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572963G>A | CA008554 | KCNQ1 | c.637G>A (p.Ala213Thr) c.478-10472G>A (n.478-10472G>A) c.898G>A (p.Ala300Thr) c.517G>A (p.Ala173Thr) c.124-10472G>A (n.124-10472G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572963G>C | CA379131695 | KCNQ1 | c.637G>C (p.Ala213Pro) c.478-10472G>C (n.478-10472G>C) c.898G>C (p.Ala300Pro) c.517G>C (p.Ala173Pro) c.124-10472G>C (n.124-10472G>C) | |
11 | g.2572963G= | CA1948212285 | KCNQ1 | c.637G= (p.Ala213=) c.478-10472G= (n.478-10472G=) c.898G= (p.Ala300=) c.517G= (p.Ala173=) c.124-10472G= (n.124-10472G=) | |
11 | g.2572963G>T | CA379131697 | KCNQ1 | c.637G>T (p.Ala213Ser) c.478-10472G>T (n.478-10472G>T) c.898G>T (p.Ala300Ser) c.517G>T (p.Ala173Ser) c.124-10472G>T (n.124-10472G>T) | ClinVar dbSNP gnomAD v4 |
11 | g.2572964C>A | CA16613563 | KCNQ1 | c.638C>A (p.Ala213Glu) c.478-10471C>A (n.478-10471C>A) c.899C>A (p.Ala300Glu) c.518C>A (p.Ala173Glu) c.124-10471C>A (n.124-10471C>A) | ClinVar dbSNP gnomAD v4 |
11 | g.2572964C= | CA1948212297 | KCNQ1 | c.638C= (p.Ala213=) c.478-10471C= (n.478-10471C=) c.899C= (p.Ala300=) c.518C= (p.Ala173=) c.124-10471C= (n.124-10471C=) | |
11 | g.2572964C>G | CA379131700 | KCNQ1 | c.638C>G (p.Ala213Gly) c.478-10471C>G (n.478-10471C>G) c.899C>G (p.Ala300Gly) c.518C>G (p.Ala173Gly) c.124-10471C>G (n.124-10471C>G) | ClinVar dbSNP gnomAD v4 |
11 | g.2572964C>T | CA379131701 | KCNQ1 | c.638C>T (p.Ala213Val) c.478-10471C>T (n.478-10471C>T) c.899C>T (p.Ala300Val) c.518C>T (p.Ala173Val) c.124-10471C>T (n.124-10471C>T) | |
11 | g.2572965A= | CA1948212305 | KCNQ1 | c.639A= (p.Ala213=) c.478-10470A= (n.478-10470A=) c.900A= (p.Ala300=) c.519A= (p.Ala173=) c.124-10470A= (n.124-10470A=) | |
11 | g.2572965A>C | CA008569 | KCNQ1 | c.639A>C (p.Ala213=) c.478-10470A>C (n.478-10470A>C) c.900A>C (p.Ala300=) c.519A>C (p.Ala173=) c.124-10470A>C (n.124-10470A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572965A>G | CA472038194 | KCNQ1 | c.639A>G (p.Ala213=) c.478-10470A>G (n.478-10470A>G) c.900A>G (p.Ala300=) c.519A>G (p.Ala173=) c.124-10470A>G (n.124-10470A>G) | gnomAD v4 |
11 | g.2572965A>T | CA472038195 | KCNQ1 | c.639A>T (p.Ala213=) c.478-10470A>T (n.478-10470A>T) c.900A>T (p.Ala300=) c.519A>T (p.Ala173=) c.124-10470A>T (n.124-10470A>T) | |
11 | g.2572966G>A | CA379131710 | KCNQ1 | c.640G>A (p.Asp214Asn) c.478-10469G>A (n.478-10469G>A) c.901G>A (p.Asp301Asn) c.520G>A (p.Asp174Asn) c.124-10469G>A (n.124-10469G>A) | COSMIC |
11 | g.2572966G>C | CA379131707 | KCNQ1 | c.640G>C (p.Asp214His) c.478-10469G>C (n.478-10469G>C) c.901G>C (p.Asp301His) c.520G>C (p.Asp174His) c.124-10469G>C (n.124-10469G>C) | |
11 | g.2572966G>T | CA379131713 | KCNQ1 | c.640G>T (p.Asp214Tyr) c.478-10469G>T (n.478-10469G>T) c.901G>T (p.Asp301Tyr) c.520G>T (p.Asp174Tyr) c.124-10469G>T (n.124-10469G>T) | ClinVar |
11 | g.2572967A= | CA1948212316 | KCNQ1 | c.641A= (p.Asp214=) c.478-10468A= (n.478-10468A=) c.902A= (p.Asp301=) c.521A= (p.Asp174=) c.124-10468A= (n.124-10468A=) | |
11 | g.2572967A>C | CA379131715 | KCNQ1 | c.641A>C (p.Asp214Ala) c.478-10468A>C (n.478-10468A>C) c.902A>C (p.Asp301Ala) c.521A>C (p.Asp174Ala) c.124-10468A>C (n.124-10468A>C) | |
11 | g.2572967A>G | CA379131718 | KCNQ1 | c.641A>G (p.Asp214Gly) c.478-10468A>G (n.478-10468A>G) c.902A>G (p.Asp301Gly) c.521A>G (p.Asp174Gly) c.124-10468A>G (n.124-10468A>G) | dbSNP |
11 | g.2572967A>T | CA379131717 | KCNQ1 | c.641A>T (p.Asp214Val) c.478-10468A>T (n.478-10468A>T) c.902A>T (p.Asp301Val) c.521A>T (p.Asp174Val) c.124-10468A>T (n.124-10468A>T) | ClinVar dbSNP gnomAD v4 |
11 | g.2572968T>A | CA379131721 | KCNQ1 | c.642T>A (p.Asp214Glu) c.478-10467T>A (n.478-10467T>A) c.903T>A (p.Asp301Glu) c.522T>A (p.Asp174Glu) c.124-10467T>A (n.124-10467T>A) | |
11 | g.2572968T>C | CA472038196 | KCNQ1 | c.642T>C (p.Asp214=) c.478-10467T>C (n.478-10467T>C) c.903T>C (p.Asp301=) c.522T>C (p.Asp174=) c.124-10467T>C (n.124-10467T>C) | dbSNP |
11 | g.2572968T>G | CA379131723 | KCNQ1 | c.642T>G (p.Asp214Glu) c.478-10467T>G (n.478-10467T>G) c.903T>G (p.Asp301Glu) c.522T>G (p.Asp174Glu) c.124-10467T>G (n.124-10467T>G) | |
11 | g.2572969G>A | CA008575 | KCNQ1 | c.643G>A (p.Ala215Thr) c.478-10466G>A (n.478-10466G>A) c.904G>A (p.Ala302Thr) c.523G>A (p.Ala175Thr) c.124-10466G>A (n.124-10466G>A) | ClinVar dbSNP gnomAD v4 |
11 | g.2572969G>C | CA379131729 | KCNQ1 | c.643G>C (p.Ala215Pro) c.478-10466G>C (n.478-10466G>C) c.904G>C (p.Ala302Pro) c.523G>C (p.Ala175Pro) c.124-10466G>C (n.124-10466G>C) | |
11 | g.2572969G= | CA1948212324 | KCNQ1 | c.643G= (p.Ala215=) c.478-10466G= (n.478-10466G=) c.904G= (p.Ala302=) c.523G= (p.Ala175=) c.124-10466G= (n.124-10466G=) | |
11 | g.2572969G>T | CA379131727 | KCNQ1 | c.643G>T (p.Ala215Ser) c.478-10466G>T (n.478-10466G>T) c.904G>T (p.Ala302Ser) c.523G>T (p.Ala175Ser) c.124-10466G>T (n.124-10466G>T) | |
11 | g.2572970C>A | CA008583 | KCNQ1 | c.644C>A (p.Ala215Glu) c.478-10465C>A (n.478-10465C>A) c.905C>A (p.Ala302Glu) c.524C>A (p.Ala175Glu) c.124-10465C>A (n.124-10465C>A) | ClinVar dbSNP |
11 | g.2572970C= | CA1948212334 | KCNQ1 | c.644C= (p.Ala215=) c.478-10465C= (n.478-10465C=) c.905C= (p.Ala302=) c.524C= (p.Ala175=) c.124-10465C= (n.124-10465C=) | |
11 | g.2572970C>G | CA379131737 | KCNQ1 | c.644C>G (p.Ala215Gly) c.478-10465C>G (n.478-10465C>G) c.905C>G (p.Ala302Gly) c.524C>G (p.Ala175Gly) c.124-10465C>G (n.124-10465C>G) | |
11 | g.2572970C>T | CA008587 | KCNQ1 | c.644C>T (p.Ala215Val) c.478-10465C>T (n.478-10465C>T) c.905C>T (p.Ala302Val) c.524C>T (p.Ala175Val) c.124-10465C>T (n.124-10465C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572971G>A | CA041359 | KCNQ1 | c.645G>A (p.Ala215=) c.478-10464G>A (n.478-10464G>A) c.906G>A (p.Ala302=) c.525G>A (p.Ala175=) c.124-10464G>A (n.124-10464G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572971G>C | CA472038197 | KCNQ1 | c.645G>C (p.Ala215=) c.478-10464G>C (n.478-10464G>C) c.906G>C (p.Ala302=) c.525G>C (p.Ala175=) c.124-10464G>C (n.124-10464G>C) | ClinVar |
11 | g.2572971G= | CA1948212345 | KCNQ1 | c.645G= (p.Ala215=) c.478-10464G= (n.478-10464G=) c.906G= (p.Ala302=) c.525G= (p.Ala175=) c.124-10464G= (n.124-10464G=) | |
11 | g.2572971G>T | CA041371 | KCNQ1 | c.645G>T (p.Ala215=) c.478-10464G>T (n.478-10464G>T) c.906G>T (p.Ala302=) c.525G>T (p.Ala175=) c.124-10464G>T (n.124-10464G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572972C>A | CA379131742 | KCNQ1 | c.646C>A (p.Leu216Met) c.478-10463C>A (n.478-10463C>A) c.907C>A (p.Leu303Met) c.526C>A (p.Leu176Met) c.124-10463C>A (n.124-10463C>A) | |
11 | g.2572972C>G | CA379131743 | KCNQ1 | c.646C>G (p.Leu216Val) c.478-10463C>G (n.478-10463C>G) c.907C>G (p.Leu303Val) c.526C>G (p.Leu176Val) c.124-10463C>G (n.124-10463C>G) | |
11 | g.2572972C>T | CA472038198 | KCNQ1 | c.646C>T (p.Leu216=) c.478-10463C>T (n.478-10463C>T) c.907C>T (p.Leu303=) c.526C>T (p.Leu176=) c.124-10463C>T (n.124-10463C>T) | |
11 | g.2572973T>A | CA379131745 | KCNQ1 | c.647T>A (p.Leu216Gln) c.478-10462T>A (n.478-10462T>A) c.908T>A (p.Leu303Gln) c.527T>A (p.Leu176Gln) c.124-10462T>A (n.124-10462T>A) | |
11 | g.2572973T>C | CA008593 | KCNQ1 | c.647T>C (p.Leu216Pro) c.478-10462T>C (n.478-10462T>C) c.908T>C (p.Leu303Pro) c.527T>C (p.Leu176Pro) c.124-10462T>C (n.124-10462T>C) | ClinVar dbSNP |
11 | g.2572973T>G | CA379131748 | KCNQ1 | c.647T>G (p.Leu216Arg) c.478-10462T>G (n.478-10462T>G) c.908T>G (p.Leu303Arg) c.527T>G (p.Leu176Arg) c.124-10462T>G (n.124-10462T>G) | |
11 | g.2572973T= | CA1948212348 | KCNQ1 | c.647T= (p.Leu216=) c.478-10462T= (n.478-10462T=) c.908T= (p.Leu303=) c.527T= (p.Leu176=) c.124-10462T= (n.124-10462T=) |