Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2583368_2583391dup | CA2612002463 | KCNQ1 | c.661-67_661-44dup (n.661-67_661-44dup) c.478-67_478-44dup (n.478-67_478-44dup) c.922-67_922-44dup (n.922-67_922-44dup) c.541-67_541-44dup (n.541-67_541-44dup) c.124-67_124-44dup (n.124-67_124-44dup) | gnomAD v4 |
11 | g.2583375A= | CA1948224438 | KCNQ1 | c.661-60A= (n.661-60A=) c.478-60A= (n.478-60A=) c.922-60A= (n.922-60A=) c.541-60A= (n.541-60A=) c.124-60A= (n.124-60A=) | |
11 | g.2583375A>C | CA1948224440 | KCNQ1 | c.661-60A>C (n.661-60A>C) c.478-60A>C (n.478-60A>C) c.922-60A>C (n.922-60A>C) c.541-60A>C (n.541-60A>C) c.124-60A>C (n.124-60A>C) | dbSNP |
11 | g.2583375A>G | CA2790193747 | KCNQ1 | c.661-60A>G (n.661-60A>G) c.478-60A>G (n.478-60A>G) c.922-60A>G (n.922-60A>G) c.541-60A>G (n.541-60A>G) c.124-60A>G (n.124-60A>G) | |
11 | g.2583376G>A | CA2574728153 | KCNQ1 | c.661-59G>A (n.661-59G>A) c.478-59G>A (n.478-59G>A) c.922-59G>A (n.922-59G>A) c.541-59G>A (n.541-59G>A) c.124-59G>A (n.124-59G>A) | gnomAD v4 |
11 | g.2583376G>T | CA2612002479 | KCNQ1 | c.661-59G>T (n.661-59G>T) c.478-59G>T (n.478-59G>T) c.922-59G>T (n.922-59G>T) c.541-59G>T (n.541-59G>T) c.124-59G>T (n.124-59G>T) | gnomAD v4 |
11 | g.2583377T>G | CA2612002480 | KCNQ1 | c.661-58T>G (n.661-58T>G) c.478-58T>G (n.478-58T>G) c.922-58T>G (n.922-58T>G) c.541-58T>G (n.541-58T>G) c.124-58T>G (n.124-58T>G) | gnomAD v4 |
11 | g.2583379G>T | CA2574728154 | KCNQ1 | c.661-56G>T (n.661-56G>T) c.478-56G>T (n.478-56G>T) c.922-56G>T (n.922-56G>T) c.541-56G>T (n.541-56G>T) c.124-56G>T (n.124-56G>T) | gnomAD v4 |
11 | g.2583380G>A | CA2612002481 | KCNQ1 | c.661-55G>A (n.661-55G>A) c.478-55G>A (n.478-55G>A) c.922-55G>A (n.922-55G>A) c.541-55G>A (n.541-55G>A) c.124-55G>A (n.124-55G>A) | gnomAD v4 |
11 | g.2583380G>T | CA2612002483 | KCNQ1 | c.661-55G>T (n.661-55G>T) c.478-55G>T (n.478-55G>T) c.922-55G>T (n.922-55G>T) c.541-55G>T (n.541-55G>T) c.124-55G>T (n.124-55G>T) | gnomAD v4 |
11 | g.2583381C>A | CA2612002484 | KCNQ1 | c.661-54C>A (n.661-54C>A) c.478-54C>A (n.478-54C>A) c.922-54C>A (n.922-54C>A) c.541-54C>A (n.541-54C>A) c.124-54C>A (n.124-54C>A) | gnomAD v4 |
11 | g.2583381C>T | CA2612002485 | KCNQ1 | c.661-54C>T (n.661-54C>T) c.478-54C>T (n.478-54C>T) c.922-54C>T (n.922-54C>T) c.541-54C>T (n.541-54C>T) c.124-54C>T (n.124-54C>T) | gnomAD v4 |
11 | g.2583382C>A | CA2574728155 | KCNQ1 | c.661-53C>A (n.661-53C>A) c.478-53C>A (n.478-53C>A) c.922-53C>A (n.922-53C>A) c.541-53C>A (n.541-53C>A) c.124-53C>A (n.124-53C>A) | gnomAD v4 |
11 | g.2583382C= | CA1948224442 | KCNQ1 | c.661-53C= (n.661-53C=) c.478-53C= (n.478-53C=) c.922-53C= (n.922-53C=) c.541-53C= (n.541-53C=) c.124-53C= (n.124-53C=) | |
11 | g.2583382C>T | CA597110458 | KCNQ1 | c.661-53C>T (n.661-53C>T) c.478-53C>T (n.478-53C>T) c.922-53C>T (n.922-53C>T) c.541-53C>T (n.541-53C>T) c.124-53C>T (n.124-53C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2583383C>A | CA2612002487 | KCNQ1 | c.661-52C>A (n.661-52C>A) c.478-52C>A (n.478-52C>A) c.922-52C>A (n.922-52C>A) c.541-52C>A (n.541-52C>A) c.124-52C>A (n.124-52C>A) | gnomAD v4 |
11 | g.2583384T>A | CA2574728156 | KCNQ1 | c.661-51T>A (n.661-51T>A) c.478-51T>A (n.478-51T>A) c.922-51T>A (n.922-51T>A) c.541-51T>A (n.541-51T>A) c.124-51T>A (n.124-51T>A) | |
11 | g.2583384T>C | CA2574728157 | KCNQ1 | c.661-51T>C (n.661-51T>C) c.478-51T>C (n.478-51T>C) c.922-51T>C (n.922-51T>C) c.541-51T>C (n.541-51T>C) c.124-51T>C (n.124-51T>C) | |
11 | g.2583384T>G | CA041656 | KCNQ1 | c.661-51T>G (n.661-51T>G) c.478-51T>G (n.478-51T>G) c.922-51T>G (n.922-51T>G) c.541-51T>G (n.541-51T>G) c.124-51T>G (n.124-51T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2583384T= | CA1948224444 | KCNQ1 | c.661-51T= (n.661-51T=) c.478-51T= (n.478-51T=) c.922-51T= (n.922-51T=) c.541-51T= (n.541-51T=) c.124-51T= (n.124-51T=) | |
11 | g.2583384dup | CA2839533715 | KCNQ1 | c.661-51dup (n.661-51dup) c.478-51dup (n.478-51dup) c.922-51dup (n.922-51dup) c.541-51dup (n.541-51dup) c.124-51dup (n.124-51dup) | |
11 | g.2583385C>A | CA2840305709 | KCNQ1 | c.661-50C>A (n.661-50C>A) c.478-50C>A (n.478-50C>A) c.922-50C>A (n.922-50C>A) c.541-50C>A (n.541-50C>A) c.124-50C>A (n.124-50C>A) | |
11 | g.2583385C= | CA1948224446 | KCNQ1 | c.661-50C= (n.661-50C=) c.478-50C= (n.478-50C=) c.922-50C= (n.922-50C=) c.541-50C= (n.541-50C=) c.124-50C= (n.124-50C=) | |
11 | g.2583385C>T | CA041644 | KCNQ1 | c.661-50C>T (n.661-50C>T) c.478-50C>T (n.478-50C>T) c.922-50C>T (n.922-50C>T) c.541-50C>T (n.541-50C>T) c.124-50C>T (n.124-50C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2583386C>A | CA2840305710 | KCNQ1 | c.661-49C>A (n.661-49C>A) c.478-49C>A (n.478-49C>A) c.922-49C>A (n.922-49C>A) c.541-49C>A (n.541-49C>A) c.124-49C>A (n.124-49C>A) | |
11 | g.2583386C= | CA1948224451 | KCNQ1 | c.661-49C= (n.661-49C=) c.478-49C= (n.478-49C=) c.922-49C= (n.922-49C=) c.541-49C= (n.541-49C=) c.124-49C= (n.124-49C=) | |
11 | g.2583386C>G | CA2723075010 | KCNQ1 | c.661-49C>G (n.661-49C>G) c.478-49C>G (n.478-49C>G) c.922-49C>G (n.922-49C>G) c.541-49C>G (n.541-49C>G) c.124-49C>G (n.124-49C>G) | dbSNP |
11 | g.2583386C>T | CA216326999 | KCNQ1 | c.661-49C>T (n.661-49C>T) c.478-49C>T (n.478-49C>T) c.922-49C>T (n.922-49C>T) c.541-49C>T (n.541-49C>T) c.124-49C>T (n.124-49C>T) | dbSNP |
11 | g.2583387C>A | CA2612002494 | KCNQ1 | c.661-48C>A (n.661-48C>A) c.478-48C>A (n.478-48C>A) c.922-48C>A (n.922-48C>A) c.541-48C>A (n.541-48C>A) c.124-48C>A (n.124-48C>A) | gnomAD v4 |
11 | g.2583387C= | CA1948224453 | KCNQ1 | c.661-48C= (n.661-48C=) c.478-48C= (n.478-48C=) c.922-48C= (n.922-48C=) c.541-48C= (n.541-48C=) c.124-48C= (n.124-48C=) | |
11 | g.2583387C>G | CA2612002495 | KCNQ1 | c.661-48C>G (n.661-48C>G) c.478-48C>G (n.478-48C>G) c.922-48C>G (n.922-48C>G) c.541-48C>G (n.541-48C>G) c.124-48C>G (n.124-48C>G) | gnomAD v4 |
11 | g.2583387C>T | CA041611 | KCNQ1 | c.661-48C>T (n.661-48C>T) c.478-48C>T (n.478-48C>T) c.922-48C>T (n.922-48C>T) c.541-48C>T (n.541-48C>T) c.124-48C>T (n.124-48C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2583388G>A | CA041597 | KCNQ1 | c.661-47G>A (n.661-47G>A) c.478-47G>A (n.478-47G>A) c.922-47G>A (n.922-47G>A) c.541-47G>A (n.541-47G>A) c.124-47G>A (n.124-47G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2583388G= | CA1948224454 | KCNQ1 | c.661-47G= (n.661-47G=) c.478-47G= (n.478-47G=) c.922-47G= (n.922-47G=) c.541-47G= (n.541-47G=) c.124-47G= (n.124-47G=) | |
11 | g.2583389A>T | CA2574728158 | KCNQ1 | c.661-46A>T (n.661-46A>T) c.478-46A>T (n.478-46A>T) c.922-46A>T (n.922-46A>T) c.541-46A>T (n.541-46A>T) c.124-46A>T (n.124-46A>T) | |
11 | g.2583390G>A | CA041585 | KCNQ1 | c.661-45G>A (n.661-45G>A) c.478-45G>A (n.478-45G>A) c.922-45G>A (n.922-45G>A) c.541-45G>A (n.541-45G>A) c.124-45G>A (n.124-45G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2583390G= | CA1948224456 | KCNQ1 | c.661-45G= (n.661-45G=) c.478-45G= (n.478-45G=) c.922-45G= (n.922-45G=) c.541-45G= (n.541-45G=) c.124-45G= (n.124-45G=) | |
11 | g.2583390G>T | CA2574728159 | KCNQ1 | c.661-45G>T (n.661-45G>T) c.478-45G>T (n.478-45G>T) c.922-45G>T (n.922-45G>T) c.541-45G>T (n.541-45G>T) c.124-45G>T (n.124-45G>T) | |
11 | g.2583391G>A | CA1948224459 | KCNQ1 | c.661-44G>A (n.661-44G>A) c.478-44G>A (n.478-44G>A) c.922-44G>A (n.922-44G>A) c.541-44G>A (n.541-44G>A) c.124-44G>A (n.124-44G>A) | dbSNP |
11 | g.2583391G= | CA1948224458 | KCNQ1 | c.661-44G= (n.661-44G=) c.478-44G= (n.478-44G=) c.922-44G= (n.922-44G=) c.541-44G= (n.541-44G=) c.124-44G= (n.124-44G=) | |
11 | g.2583391G>T | CA2612002499 | KCNQ1 | c.661-44G>T (n.661-44G>T) c.478-44G>T (n.478-44G>T) c.922-44G>T (n.922-44G>T) c.541-44G>T (n.541-44G>T) c.124-44G>T (n.124-44G>T) | gnomAD v4 |
11 | g.2583392C>A | CA2612002502 | KCNQ1 | c.661-43C>A (n.661-43C>A) c.478-43C>A (n.478-43C>A) c.922-43C>A (n.922-43C>A) c.541-43C>A (n.541-43C>A) c.124-43C>A (n.124-43C>A) | gnomAD v4 |
11 | g.2583392C>G | CA2612002501 | KCNQ1 | c.661-43C>G (n.661-43C>G) c.478-43C>G (n.478-43C>G) c.922-43C>G (n.922-43C>G) c.541-43C>G (n.541-43C>G) c.124-43C>G (n.124-43C>G) | gnomAD v4 |
11 | g.2583392C>T | CA2839084497 | KCNQ1 | c.661-43C>T (n.661-43C>T) c.478-43C>T (n.478-43C>T) c.922-43C>T (n.922-43C>T) c.541-43C>T (n.541-43C>T) c.124-43C>T (n.124-43C>T) | |
11 | g.2583393T>C | CA2574728160 | KCNQ1 | c.661-42T>C (n.661-42T>C) c.478-42T>C (n.478-42T>C) c.922-42T>C (n.922-42T>C) c.541-42T>C (n.541-42T>C) c.124-42T>C (n.124-42T>C) | |
11 | g.2583394C>A | CA041573 | KCNQ1 | c.661-41C>A (n.661-41C>A) c.478-41C>A (n.478-41C>A) c.922-41C>A (n.922-41C>A) c.541-41C>A (n.541-41C>A) c.124-41C>A (n.124-41C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2583394C= | CA1948224460 | KCNQ1 | c.661-41C= (n.661-41C=) c.478-41C= (n.478-41C=) c.922-41C= (n.922-41C=) c.541-41C= (n.541-41C=) c.124-41C= (n.124-41C=) | |
11 | g.2583394C>G | CA1948224462 | KCNQ1 | c.661-41C>G (n.661-41C>G) c.478-41C>G (n.478-41C>G) c.922-41C>G (n.922-41C>G) c.541-41C>G (n.541-41C>G) c.124-41C>G (n.124-41C>G) | dbSNP gnomAD v4 |
11 | g.2583394C>T | CA2612002503 | KCNQ1 | c.661-41C>T (n.661-41C>T) c.478-41C>T (n.478-41C>T) c.922-41C>T (n.922-41C>T) c.541-41C>T (n.541-41C>T) c.124-41C>T (n.124-41C>T) | gnomAD v4 |
11 | g.2583395C= | CA1948224463 | KCNQ1 | c.661-40C= (n.661-40C=) c.478-40C= (n.478-40C=) c.922-40C= (n.922-40C=) c.541-40C= (n.541-40C=) c.124-40C= (n.124-40C=) | |
11 | g.2583395C>T | CA597110459 | KCNQ1 | c.661-40C>T (n.661-40C>T) c.478-40C>T (n.478-40C>T) c.922-40C>T (n.922-40C>T) c.541-40C>T (n.541-40C>T) c.124-40C>T (n.124-40C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2583396A= | CA1948224464 | KCNQ1 | c.661-39A= (n.661-39A=) c.478-39A= (n.478-39A=) c.922-39A= (n.922-39A=) c.541-39A= (n.541-39A=) c.124-39A= (n.124-39A=) | |
11 | g.2583396A>C | CA597110460 | KCNQ1 | c.661-39A>C (n.661-39A>C) c.478-39A>C (n.478-39A>C) c.922-39A>C (n.922-39A>C) c.541-39A>C (n.541-39A>C) c.124-39A>C (n.124-39A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2583397G>C | CA2532851697 | KCNQ1 | c.661-38G>C (n.661-38G>C) c.478-38G>C (n.478-38G>C) c.922-38G>C (n.922-38G>C) c.541-38G>C (n.541-38G>C) c.124-38G>C (n.124-38G>C) | |
11 | g.2583397G= | CA1948224469 | KCNQ1 | c.661-38G= (n.661-38G=) c.478-38G= (n.478-38G=) c.922-38G= (n.922-38G=) c.541-38G= (n.541-38G=) c.124-38G= (n.124-38G=) | |
11 | g.2583397G>T | CA597110461 | KCNQ1 | c.661-38G>T (n.661-38G>T) c.478-38G>T (n.478-38G>T) c.922-38G>T (n.922-38G>T) c.541-38G>T (n.541-38G>T) c.124-38G>T (n.124-38G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2583398T>A | CA653929634 | KCNQ1 | c.661-37T>A (n.661-37T>A) c.478-37T>A (n.478-37T>A) c.922-37T>A (n.922-37T>A) c.541-37T>A (n.541-37T>A) c.124-37T>A (n.124-37T>A) | COSMIC |
11 | g.2583399C>A | CA2574728161 | KCNQ1 | c.661-36C>A (n.661-36C>A) c.478-36C>A (n.478-36C>A) c.922-36C>A (n.922-36C>A) c.541-36C>A (n.541-36C>A) c.124-36C>A (n.124-36C>A) | gnomAD v4 |
11 | g.2583399C>T | CA2612002504 | KCNQ1 | c.661-36C>T (n.661-36C>T) c.478-36C>T (n.478-36C>T) c.922-36C>T (n.922-36C>T) c.541-36C>T (n.541-36C>T) c.124-36C>T (n.124-36C>T) | gnomAD v4 |
11 | g.2583400C>T | CA2723229672 | KCNQ1 | c.661-35C>T (n.661-35C>T) c.478-35C>T (n.478-35C>T) c.922-35C>T (n.922-35C>T) c.541-35C>T (n.541-35C>T) c.124-35C>T (n.124-35C>T) | dbSNP |
11 | g.2583401C>A | CA2612002507 | KCNQ1 | c.661-34C>A (n.661-34C>A) c.478-34C>A (n.478-34C>A) c.922-34C>A (n.922-34C>A) c.541-34C>A (n.541-34C>A) c.124-34C>A (n.124-34C>A) | gnomAD v4 |
11 | g.2583401C= | CA1948224477 | KCNQ1 | c.661-34C= (n.661-34C=) c.478-34C= (n.478-34C=) c.922-34C= (n.922-34C=) c.541-34C= (n.541-34C=) c.124-34C= (n.124-34C=) | |
11 | g.2583401C>G | CA216327043 | KCNQ1 | c.661-34C>G (n.661-34C>G) c.478-34C>G (n.478-34C>G) c.922-34C>G (n.922-34C>G) c.541-34C>G (n.541-34C>G) c.124-34C>G (n.124-34C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2583401C>T | CA674982988 | KCNQ1 | c.661-34C>T (n.661-34C>T) c.478-34C>T (n.478-34C>T) c.922-34C>T (n.922-34C>T) c.541-34C>T (n.541-34C>T) c.124-34C>T (n.124-34C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2583402A>G | CA2840305711 | KCNQ1 | c.661-33A>G (n.661-33A>G) c.478-33A>G (n.478-33A>G) c.922-33A>G (n.922-33A>G) c.541-33A>G (n.541-33A>G) c.124-33A>G (n.124-33A>G) | |
11 | g.2583404C>A | CA2574728163 | KCNQ1 | c.661-31C>A (n.661-31C>A) c.478-31C>A (n.478-31C>A) c.922-31C>A (n.922-31C>A) c.541-31C>A (n.541-31C>A) c.124-31C>A (n.124-31C>A) | |
11 | g.2583405C>A | CA216327051 | KCNQ1 | c.661-30C>A (n.661-30C>A) c.478-30C>A (n.478-30C>A) c.922-30C>A (n.922-30C>A) c.541-30C>A (n.541-30C>A) c.124-30C>A (n.124-30C>A) | dbSNP gnomAD v4 |
11 | g.2583405C= | CA1948224481 | KCNQ1 | c.661-30C= (n.661-30C=) c.478-30C= (n.478-30C=) c.922-30C= (n.922-30C=) c.541-30C= (n.541-30C=) c.124-30C= (n.124-30C=) | |
11 | g.2583405C>T | CA041566 | KCNQ1 | c.661-30C>T (n.661-30C>T) c.478-30C>T (n.478-30C>T) c.922-30C>T (n.922-30C>T) c.541-30C>T (n.541-30C>T) c.124-30C>T (n.124-30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2583406G>A | CA041551 | KCNQ1 | c.661-29G>A (n.661-29G>A) c.478-29G>A (n.478-29G>A) c.922-29G>A (n.922-29G>A) c.541-29G>A (n.541-29G>A) c.124-29G>A (n.124-29G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2583406G= | CA1948224486 | KCNQ1 | c.661-29G= (n.661-29G=) c.478-29G= (n.478-29G=) c.922-29G= (n.922-29G=) c.541-29G= (n.541-29G=) c.124-29G= (n.124-29G=) | |
11 | g.2583406G>T | CA2612002510 | KCNQ1 | c.661-29G>T (n.661-29G>T) c.478-29G>T (n.478-29G>T) c.922-29G>T (n.922-29G>T) c.541-29G>T (n.541-29G>T) c.124-29G>T (n.124-29G>T) | gnomAD v4 |
11 | g.2583408G>A | CA2612002512 | KCNQ1 | c.661-27G>A (n.661-27G>A) c.478-27G>A (n.478-27G>A) c.922-27G>A (n.922-27G>A) c.541-27G>A (n.541-27G>A) c.124-27G>A (n.124-27G>A) | gnomAD v4 |
11 | g.2583408G>T | CA653929635 | KCNQ1 | c.661-27G>T (n.661-27G>T) c.478-27G>T (n.478-27G>T) c.922-27G>T (n.922-27G>T) c.541-27G>T (n.541-27G>T) c.124-27G>T (n.124-27G>T) | gnomAD v4 COSMIC |
11 | g.2583409G>A | CA2612002513 | KCNQ1 | c.661-26G>A (n.661-26G>A) c.478-26G>A (n.478-26G>A) c.922-26G>A (n.922-26G>A) c.541-26G>A (n.541-26G>A) c.124-26G>A (n.124-26G>A) | gnomAD v4 |
11 | g.2583409_2583416delinsGCTGACCA | CA1948224489 | KCNQ1 | c.661-26_661-19delinsGCTGACCA (n.661-26_661-19delinsGCTGACCA) c.478-26_478-19delinsGCTGACCA (n.478-26_478-19delinsGCTGACCA) c.922-26_922-19delinsGCTGACCA (n.922-26_922-19delinsGCTGACCA) c.541-26_541-19delinsGCTGACCA (n.541-26_541-19delinsGCTGACCA) c.124-26_124-19delinsGCTGACCA (n.124-26_124-19delinsGCTGACCA) | |
11 | g.2583410C>A | CA2574728164 | KCNQ1 | c.661-25C>A (n.661-25C>A) c.478-25C>A (n.478-25C>A) c.922-25C>A (n.922-25C>A) c.541-25C>A (n.541-25C>A) c.124-25C>A (n.124-25C>A) | gnomAD v4 |
11 | g.2583410C>T | CA2574728165 | KCNQ1 | c.661-25C>T (n.661-25C>T) c.478-25C>T (n.478-25C>T) c.922-25C>T (n.922-25C>T) c.541-25C>T (n.541-25C>T) c.124-25C>T (n.124-25C>T) | |
11 | g.2583413_2583419del | CA041541 | KCNQ1 | c.661-22_661-16del (n.661-22_661-16del) c.478-22_478-16del (n.478-22_478-16del) c.922-22_922-16del (n.922-22_922-16del) c.541-22_541-16del (n.541-22_541-16del) c.124-22_124-16del (n.124-22_124-16del) | dbSNP ExAC gnomAD v2 |
11 | g.2583412G>A | CA2612002514 | KCNQ1 | c.661-23G>A (n.661-23G>A) c.478-23G>A (n.478-23G>A) c.922-23G>A (n.922-23G>A) c.541-23G>A (n.541-23G>A) c.124-23G>A (n.124-23G>A) | gnomAD v4 |
11 | g.2583412G>T | CA2612002515 | KCNQ1 | c.661-23G>T (n.661-23G>T) c.478-23G>T (n.478-23G>T) c.922-23G>T (n.922-23G>T) c.541-23G>T (n.541-23G>T) c.124-23G>T (n.124-23G>T) | gnomAD v4 |
11 | g.2583413A= | CA1948224493 | KCNQ1 | c.661-22A= (n.661-22A=) c.478-22A= (n.478-22A=) c.922-22A= (n.922-22A=) c.541-22A= (n.541-22A=) c.124-22A= (n.124-22A=) | |
11 | g.2583413A>C | CA2612002516 | KCNQ1 | c.661-22A>C (n.661-22A>C) c.478-22A>C (n.478-22A>C) c.922-22A>C (n.922-22A>C) c.541-22A>C (n.541-22A>C) c.124-22A>C (n.124-22A>C) | gnomAD v4 |
11 | g.2583413A>G | CA216327074 | KCNQ1 | c.661-22A>G (n.661-22A>G) c.478-22A>G (n.478-22A>G) c.922-22A>G (n.922-22A>G) c.541-22A>G (n.541-22A>G) c.124-22A>G (n.124-22A>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2583414C>A | CA2574728166 | KCNQ1 | c.661-21C>A (n.661-21C>A) c.478-21C>A (n.478-21C>A) c.922-21C>A (n.922-21C>A) c.541-21C>A (n.541-21C>A) c.124-21C>A (n.124-21C>A) | gnomAD v4 |
11 | g.2583414C>T | CA2840305712 | KCNQ1 | c.661-21C>T (n.661-21C>T) c.478-21C>T (n.478-21C>T) c.922-21C>T (n.922-21C>T) c.541-21C>T (n.541-21C>T) c.124-21C>T (n.124-21C>T) | |
11 | g.2583415dup | CA1948224496 | KCNQ1 | c.661-20dup (n.661-20dup) c.478-20dup (n.478-20dup) c.922-20dup (n.922-20dup) c.541-20dup (n.541-20dup) c.124-20dup (n.124-20dup) | dbSNP |
11 | g.2583415C>A | CA2612002518 | KCNQ1 | c.661-20C>A (n.661-20C>A) c.478-20C>A (n.478-20C>A) c.922-20C>A (n.922-20C>A) c.541-20C>A (n.541-20C>A) c.124-20C>A (n.124-20C>A) | gnomAD v4 |
11 | g.2583415C= | CA1948224499 | KCNQ1 | c.661-20C= (n.661-20C=) c.478-20C= (n.478-20C=) c.922-20C= (n.922-20C=) c.541-20C= (n.541-20C=) c.124-20C= (n.124-20C=) | |
11 | g.2583415C>T | CA674983005 | KCNQ1 | c.661-20C>T (n.661-20C>T) c.478-20C>T (n.478-20C>T) c.922-20C>T (n.922-20C>T) c.541-20C>T (n.541-20C>T) c.124-20C>T (n.124-20C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2583416A>G | CA2612002521 | KCNQ1 | c.661-19A>G (n.661-19A>G) c.478-19A>G (n.478-19A>G) c.922-19A>G (n.922-19A>G) c.541-19A>G (n.541-19A>G) c.124-19A>G (n.124-19A>G) | gnomAD v4 |
11 | g.2583417C>A | CA2574728168 | KCNQ1 | c.661-18C>A (n.661-18C>A) c.478-18C>A (n.478-18C>A) c.922-18C>A (n.922-18C>A) c.541-18C>A (n.541-18C>A) c.124-18C>A (n.124-18C>A) | gnomAD v4 |
11 | g.2583417C= | CA1948224502 | KCNQ1 | c.661-18C= (n.661-18C=) c.478-18C= (n.478-18C=) c.922-18C= (n.922-18C=) c.541-18C= (n.541-18C=) c.124-18C= (n.124-18C=) | |
11 | g.2583417C>T | CA041525 | KCNQ1 | c.661-18C>T (n.661-18C>T) c.478-18C>T (n.478-18C>T) c.922-18C>T (n.922-18C>T) c.541-18C>T (n.541-18C>T) c.124-18C>T (n.124-18C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2583418T>C | CA2612002524 | KCNQ1 | c.661-17T>C (n.661-17T>C) c.478-17T>C (n.478-17T>C) c.922-17T>C (n.922-17T>C) c.541-17T>C (n.541-17T>C) c.124-17T>C (n.124-17T>C) | gnomAD v4 |
11 | g.2583421C>A | CA2612002527 | KCNQ1 | c.661-14C>A (n.661-14C>A) c.478-14C>A (n.478-14C>A) c.922-14C>A (n.922-14C>A) c.541-14C>A (n.541-14C>A) c.124-14C>A (n.124-14C>A) | gnomAD v4 |
11 | g.2583421C= | CA1948224512 | KCNQ1 | c.661-14C= (n.661-14C=) c.478-14C= (n.478-14C=) c.922-14C= (n.922-14C=) c.541-14C= (n.541-14C=) c.124-14C= (n.124-14C=) | |
11 | g.2583421C>T | CA597110462 | KCNQ1 | c.661-14C>T (n.661-14C>T) c.478-14C>T (n.478-14C>T) c.922-14C>T (n.922-14C>T) c.541-14C>T (n.541-14C>T) c.124-14C>T (n.124-14C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2583422C>A | CA2612002528 | KCNQ1 | c.661-13C>A (n.661-13C>A) c.478-13C>A (n.478-13C>A) c.922-13C>A (n.922-13C>A) c.541-13C>A (n.541-13C>A) c.124-13C>A (n.124-13C>A) | gnomAD v4 |
11 | g.2583422C>G | CA2612002530 | KCNQ1 | c.661-13C>G (n.661-13C>G) c.478-13C>G (n.478-13C>G) c.922-13C>G (n.922-13C>G) c.541-13C>G (n.541-13C>G) c.124-13C>G (n.124-13C>G) | gnomAD v4 |
11 | g.2583422C>T | CA2612002529 | KCNQ1 | c.661-13C>T (n.661-13C>T) c.478-13C>T (n.478-13C>T) c.922-13C>T (n.922-13C>T) c.541-13C>T (n.541-13C>T) c.124-13C>T (n.124-13C>T) | gnomAD v4 |
11 | g.2583423C>A | CA2612002532 | KCNQ1 | c.661-12C>A (n.661-12C>A) c.478-12C>A (n.478-12C>A) c.922-12C>A (n.922-12C>A) c.541-12C>A (n.541-12C>A) c.124-12C>A (n.124-12C>A) | gnomAD v4 |
11 | g.2583423C= | CA1948224513 | KCNQ1 | c.661-12C= (n.661-12C=) c.478-12C= (n.478-12C=) c.922-12C= (n.922-12C=) c.541-12C= (n.541-12C=) c.124-12C= (n.124-12C=) | |
11 | g.2583423C>T | CA674983011 | KCNQ1 | c.661-12C>T (n.661-12C>T) c.478-12C>T (n.478-12C>T) c.922-12C>T (n.922-12C>T) c.541-12C>T (n.541-12C>T) c.124-12C>T (n.124-12C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2583424T>C | CA2612002534 | KCNQ1 | c.661-11T>C (n.661-11T>C) c.478-11T>C (n.478-11T>C) c.922-11T>C (n.922-11T>C) c.541-11T>C (n.541-11T>C) c.124-11T>C (n.124-11T>C) | gnomAD v4 |
11 | g.2583425C>A | CA2612002535 | KCNQ1 | c.661-10C>A (n.661-10C>A) c.478-10C>A (n.478-10C>A) c.922-10C>A (n.922-10C>A) c.541-10C>A (n.541-10C>A) c.124-10C>A (n.124-10C>A) | gnomAD v4 |
11 | g.2583425C>G | CA2573332606 | KCNQ1 | c.661-10C>G (n.661-10C>G) c.478-10C>G (n.478-10C>G) c.922-10C>G (n.922-10C>G) c.541-10C>G (n.541-10C>G) c.124-10C>G (n.124-10C>G) | |
11 | g.2583426T>A | CA2612002536 | KCNQ1 | c.661-9T>A (n.661-9T>A) c.478-9T>A (n.478-9T>A) c.922-9T>A (n.922-9T>A) c.541-9T>A (n.541-9T>A) c.124-9T>A (n.124-9T>A) | gnomAD v4 |
11 | g.2583427C>A | CA2612002538 | KCNQ1 | c.661-8C>A (n.661-8C>A) c.478-8C>A (n.478-8C>A) c.922-8C>A (n.922-8C>A) c.541-8C>A (n.541-8C>A) c.124-8C>A (n.124-8C>A) | gnomAD v4 |
11 | g.2583427C>T | CA2612002539 | KCNQ1 | c.661-8C>T (n.661-8C>T) c.478-8C>T (n.478-8C>T) c.922-8C>T (n.922-8C>T) c.541-8C>T (n.541-8C>T) c.124-8C>T (n.124-8C>T) | gnomAD v4 |
11 | g.2583428C>A | CA2612002541 | KCNQ1 | c.661-7C>A (n.661-7C>A) c.478-7C>A (n.478-7C>A) c.922-7C>A (n.922-7C>A) c.541-7C>A (n.541-7C>A) c.124-7C>A (n.124-7C>A) | gnomAD v4 |
11 | g.2583428C>G | CA2574728169 | KCNQ1 | c.661-7C>G (n.661-7C>G) c.478-7C>G (n.478-7C>G) c.922-7C>G (n.922-7C>G) c.541-7C>G (n.541-7C>G) c.124-7C>G (n.124-7C>G) | |
11 | g.2583428C>T | CA2739276105 | KCNQ1 | c.661-7C>T (n.661-7C>T) c.478-7C>T (n.478-7C>T) c.922-7C>T (n.922-7C>T) c.541-7C>T (n.541-7C>T) c.124-7C>T (n.124-7C>T) | ClinVar |
11 | g.2583429C>A | CA2574728170 | KCNQ1 | c.661-6C>A (n.661-6C>A) c.478-6C>A (n.478-6C>A) c.922-6C>A (n.922-6C>A) c.541-6C>A (n.541-6C>A) c.124-6C>A (n.124-6C>A) | gnomAD v4 |
11 | g.2583429C= | CA1948224514 | KCNQ1 | c.661-6C= (n.661-6C=) c.478-6C= (n.478-6C=) c.922-6C= (n.922-6C=) c.541-6C= (n.541-6C=) c.124-6C= (n.124-6C=) | |
11 | g.2583429C>G | CA1948224515 | KCNQ1 | c.661-6C>G (n.661-6C>G) c.478-6C>G (n.478-6C>G) c.922-6C>G (n.922-6C>G) c.541-6C>G (n.541-6C>G) c.124-6C>G (n.124-6C>G) | dbSNP |
11 | g.2583430T>C | CA1948224517 | KCNQ1 | c.661-5T>C (n.661-5T>C) c.478-5T>C (n.478-5T>C) c.922-5T>C (n.922-5T>C) c.541-5T>C (n.541-5T>C) c.124-5T>C (n.124-5T>C) | dbSNP gnomAD v4 |
11 | g.2583430T= | CA1948224516 | KCNQ1 | c.661-5T= (n.661-5T=) c.478-5T= (n.478-5T=) c.922-5T= (n.922-5T=) c.541-5T= (n.541-5T=) c.124-5T= (n.124-5T=) | |
11 | g.2583431G>A | CA041624 | KCNQ1 | c.661-4G>A (n.661-4G>A) c.478-4G>A (n.478-4G>A) c.922-4G>A (n.922-4G>A) c.541-4G>A (n.541-4G>A) c.124-4G>A (n.124-4G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2583431G= | CA1948224520 | KCNQ1 | c.661-4G= (n.661-4G=) c.478-4G= (n.478-4G=) c.922-4G= (n.922-4G=) c.541-4G= (n.541-4G=) c.124-4G= (n.124-4G=) | |
11 | g.2583432C>A | CA008690 | KCNQ1 | c.661-3C>A (n.661-3C>A) c.478-3C>A (n.478-3C>A) c.922-3C>A (n.922-3C>A) c.541-3C>A (n.541-3C>A) c.124-3C>A (n.124-3C>A) | ClinVar dbSNP gnomAD v4 |
11 | g.2583432C= | CA1948224526 | KCNQ1 | c.661-3C= (n.661-3C=) c.478-3C= (n.478-3C=) c.922-3C= (n.922-3C=) c.541-3C= (n.541-3C=) c.124-3C= (n.124-3C=) | |
11 | g.2583433A= | CA1948224538 | KCNQ1 | c.661-2A= (n.661-2A=) c.478-2A= (n.478-2A=) c.922-2A= (n.922-2A=) c.541-2A= (n.541-2A=) c.124-2A= (n.124-2A=) | |
11 | g.2583433A>C | CA008683 | KCNQ1 | c.661-2A>C (n.661-2A>C) c.478-2A>C (n.478-2A>C) c.922-2A>C (n.922-2A>C) c.541-2A>C (n.541-2A>C) c.124-2A>C (n.124-2A>C) | ClinVar dbSNP |
11 | g.2583433A>G | CA379132948 | KCNQ1 | c.661-2A>G (n.661-2A>G) c.478-2A>G (n.478-2A>G) c.922-2A>G (n.922-2A>G) c.541-2A>G (n.541-2A>G) c.124-2A>G (n.124-2A>G) | ClinVar dbSNP |
11 | g.2583433A>T | CA379132947 | KCNQ1 | c.661-2A>T (n.661-2A>T) c.478-2A>T (n.478-2A>T) c.922-2A>T (n.922-2A>T) c.541-2A>T (n.541-2A>T) c.124-2A>T (n.124-2A>T) | |
11 | g.2583434G>A | CA16042741 | KCNQ1 | c.661-1G>A (n.661-1G>A) c.478-1G>A (n.478-1G>A) c.922-1G>A (n.922-1G>A) c.541-1G>A (n.541-1G>A) c.124-1G>A (n.124-1G>A) | ClinVar dbSNP |
11 | g.2583434G>C | CA008676 | KCNQ1 | c.661-1G>C (n.661-1G>C) c.478-1G>C (n.478-1G>C) c.922-1G>C (n.922-1G>C) c.541-1G>C (n.541-1G>C) c.124-1G>C (n.124-1G>C) | ClinVar dbSNP |
11 | g.2583434G= | CA1948224543 | KCNQ1 | c.661-1G= (n.661-1G=) c.478-1G= (n.478-1G=) c.922-1G= (n.922-1G=) c.541-1G= (n.541-1G=) c.124-1G= (n.124-1G=) | |
11 | g.2583434G>T | CA379132949 | KCNQ1 | c.661-1G>T (n.661-1G>T) c.478-1G>T (n.478-1G>T) c.922-1G>T (n.922-1G>T) c.541-1G>T (n.541-1G>T) c.124-1G>T (n.124-1G>T) | |
11 | g.2583435G>A | CA379132950 | KCNQ1 | c.661G>A (p.Val221Ile) c.478G>A (p.Val160Ile) c.922G>A (p.Val308Ile) c.541G>A (p.Val181Ile) c.124G>A (p.Val42Ile) | |
11 | g.2583435G>C | CA379132951 | KCNQ1 | c.661G>C (p.Val221Leu) c.478G>C (p.Val160Leu) c.922G>C (p.Val308Leu) c.541G>C (p.Val181Leu) c.124G>C (p.Val42Leu) | |
11 | g.2583435G>T | CA379132952 | KCNQ1 | c.661G>T (p.Val221Phe) c.478G>T (p.Val160Phe) c.922G>T (p.Val308Phe) c.541G>T (p.Val181Phe) c.124G>T (p.Val42Phe) | |
11 | g.2583436T>A | CA008698 | KCNQ1 | c.662T>A (p.Val221Asp) c.479T>A (p.Val160Asp) c.923T>A (p.Val308Asp) c.542T>A (p.Val181Asp) c.125T>A (p.Val42Asp) | ClinVar dbSNP |
11 | g.2583436T>C | CA379132953 | KCNQ1 | c.662T>C (p.Val221Ala) c.479T>C (p.Val160Ala) c.923T>C (p.Val308Ala) c.542T>C (p.Val181Ala) c.125T>C (p.Val42Ala) | gnomAD v4 |
11 | g.2583436T>G | CA379132954 | KCNQ1 | c.662T>G (p.Val221Gly) c.479T>G (p.Val160Gly) c.923T>G (p.Val308Gly) c.542T>G (p.Val181Gly) c.125T>G (p.Val42Gly) | |
11 | g.2583436T= | CA1948224556 | KCNQ1 | c.662T= (p.Val221=) c.479T= (p.Val160=) c.923T= (p.Val308=) c.542T= (p.Val181=) c.125T= (p.Val42=) | |
11 | g.2583437C>A | CA472038393 | KCNQ1 | c.663C>A (p.Val221=) c.480C>A (p.Val160=) c.924C>A (p.Val308=) c.543C>A (p.Val181=) c.126C>A (p.Val42=) | |
11 | g.2583437C>G | CA472038395 | KCNQ1 | c.663C>G (p.Val221=) c.480C>G (p.Val160=) c.924C>G (p.Val308=) c.543C>G (p.Val181=) c.126C>G (p.Val42=) | |
11 | g.2583437C>T | CA472038394 | KCNQ1 | c.663C>T (p.Val221=) c.480C>T (p.Val160=) c.924C>T (p.Val308=) c.543C>T (p.Val181=) c.126C>T (p.Val42=) | |
11 | g.2583439_2583440del | CA2574728171 | KCNQ1 | c.665_666del (p.Thr222SerfsTer?) c.482_483del (p.Thr161SerfsTer?) c.926_927del (p.Thr309SerfsTer?) c.545_546del (p.Thr182SerfsTer?) c.128_129del (p.Thr43SerfsTer?) | |
11 | g.2583438A= | CA1948224564 | KCNQ1 | c.664A= (p.Thr222=) c.481A= (p.Thr161=) c.925A= (p.Thr309=) c.544A= (p.Thr182=) c.127A= (p.Thr43=) | |
11 | g.2583438A>C | CA379132955 | KCNQ1 | c.664A>C (p.Thr222Pro) c.481A>C (p.Thr161Pro) c.925A>C (p.Thr309Pro) c.544A>C (p.Thr182Pro) c.127A>C (p.Thr43Pro) | |
11 | g.2583438A>G | CA379132956 | KCNQ1 | c.664A>G (p.Thr222Ala) c.481A>G (p.Thr161Ala) c.925A>G (p.Thr309Ala) c.544A>G (p.Thr182Ala) c.127A>G (p.Thr43Ala) | |
11 | g.2583438A>T | CA008706 | KCNQ1 | c.664A>T (p.Thr222Ser) c.481A>T (p.Thr161Ser) c.925A>T (p.Thr309Ser) c.544A>T (p.Thr182Ser) c.127A>T (p.Thr43Ser) | ClinVar dbSNP |
11 | g.2583439C>A | CA379132957 | KCNQ1 | c.665C>A (p.Thr222Lys) c.482C>A (p.Thr161Lys) c.926C>A (p.Thr309Lys) c.545C>A (p.Thr182Lys) c.128C>A (p.Thr43Lys) | |
11 | g.2583439C= | CA1948224569 | KCNQ1 | c.665C= (p.Thr222=) c.482C= (p.Thr161=) c.926C= (p.Thr309=) c.545C= (p.Thr182=) c.128C= (p.Thr43=) | |
11 | g.2583439C>G | CA008712 | KCNQ1 | c.665C>G (p.Thr222Arg) c.482C>G (p.Thr161Arg) c.926C>G (p.Thr309Arg) c.545C>G (p.Thr182Arg) c.128C>G (p.Thr43Arg) | ClinVar dbSNP |
11 | g.2583439C>T | CA008720 | KCNQ1 | c.665C>T (p.Thr222Ile) c.482C>T (p.Thr161Ile) c.926C>T (p.Thr309Ile) c.545C>T (p.Thr182Ile) c.128C>T (p.Thr43Ile) | ClinVar dbSNP |
11 | g.2583440A>C | CA472038396 | KCNQ1 | c.666A>C (p.Thr222=) c.483A>C (p.Thr161=) c.927A>C (p.Thr309=) c.546A>C (p.Thr182=) c.129A>C (p.Thr43=) | |
11 | g.2583440A>G | CA472038397 | KCNQ1 | c.666A>G (p.Thr222=) c.483A>G (p.Thr161=) c.927A>G (p.Thr309=) c.546A>G (p.Thr182=) c.129A>G (p.Thr43=) | gnomAD v4 |
11 | g.2583440A>T | CA472038398 | KCNQ1 | c.666A>T (p.Thr222=) c.483A>T (p.Thr161=) c.927A>T (p.Thr309=) c.546A>T (p.Thr182=) c.129A>T (p.Thr43=) | COSMIC |
11 | g.2583441G>A | CA008728 | KCNQ1 | c.667G>A (p.Val223Ile) c.484G>A (p.Val162Ile) c.928G>A (p.Val310Ile) c.547G>A (p.Val183Ile) c.130G>A (p.Val44Ile) | ClinVar dbSNP gnomAD v4 |
11 | g.2583441G>C | CA379132958 | KCNQ1 | c.667G>C (p.Val223Leu) c.484G>C (p.Val162Leu) c.928G>C (p.Val310Leu) c.547G>C (p.Val183Leu) c.130G>C (p.Val44Leu) | |
11 | g.2583441G= | CA1948224599 | KCNQ1 | c.667G= (p.Val223=) c.484G= (p.Val162=) c.928G= (p.Val310=) c.547G= (p.Val183=) c.130G= (p.Val44=) | |
11 | g.2583441G>T | CA379132959 | KCNQ1 | c.667G>T (p.Val223Phe) c.484G>T (p.Val162Phe) c.928G>T (p.Val310Phe) c.547G>T (p.Val183Phe) c.130G>T (p.Val44Phe) | |
11 | g.2583442T>A | CA008737 | KCNQ1 | c.668T>A (p.Val223Asp) c.485T>A (p.Val162Asp) c.929T>A (p.Val310Asp) c.548T>A (p.Val183Asp) c.131T>A (p.Val44Asp) | ClinVar dbSNP |
11 | g.2583442T>C | CA379132960 | KCNQ1 | c.668T>C (p.Val223Ala) c.485T>C (p.Val162Ala) c.929T>C (p.Val310Ala) c.548T>C (p.Val183Ala) c.131T>C (p.Val44Ala) | |
11 | g.2583442T>G | CA379132961 | KCNQ1 | c.668T>G (p.Val223Gly) c.485T>G (p.Val162Gly) c.929T>G (p.Val310Gly) c.548T>G (p.Val183Gly) c.131T>G (p.Val44Gly) | |
11 | g.2583442T= | CA1948224606 | KCNQ1 | c.668T= (p.Val223=) c.485T= (p.Val162=) c.929T= (p.Val310=) c.548T= (p.Val183=) c.131T= (p.Val44=) | |
11 | g.2583442_2583445delinsTCAC | CA1948224610 | KCNQ1 | c.668_671delinsTCAC (p.Val223=) c.485_488delinsTCAC (p.Val162=) c.929_932delinsTCAC (p.Val310=) c.548_551delinsTCAC (p.Val183=) c.131_134delinsTCAC (p.Val44=) | |
11 | g.2583443C>A | CA041690 | KCNQ1 | c.669C>A (p.Val223=) c.486C>A (p.Val162=) c.930C>A (p.Val310=) c.549C>A (p.Val183=) c.132C>A (p.Val44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2583443C= | CA1948224621 | KCNQ1 | c.669C= (p.Val223=) c.486C= (p.Val162=) c.930C= (p.Val310=) c.549C= (p.Val183=) c.132C= (p.Val44=) | |
11 | g.2583443C>G | CA472038399 | KCNQ1 | c.669C>G (p.Val223=) c.486C>G (p.Val162=) c.930C>G (p.Val310=) c.549C>G (p.Val183=) c.132C>G (p.Val44=) | |
11 | g.2583443C>T | CA472038400 | KCNQ1 | c.669C>T (p.Val223=) c.486C>T (p.Val162=) c.930C>T (p.Val310=) c.549C>T (p.Val183=) c.132C>T (p.Val44=) | |
11 | g.2583448_2583450del | CA891843060 | KCNQ1 | c.674_676del (p.Thr225del) c.491_493del (p.Thr164del) c.935_937del (p.Thr312del) c.554_556del (p.Thr185del) c.137_139del (p.Thr46del) | ClinVar dbSNP |
11 | g.2583444del | CA2580082599 | KCNQ1 | c.670del (p.Thr224ProfsTer?) c.487del (p.Thr163ProfsTer?) c.931del (p.Thr311ProfsTer?) c.550del (p.Thr184ProfsTer?) c.133del (p.Thr45ProfsTer?) | ClinVar |
11 | g.2583444A= | CA1948224627 | KCNQ1 | c.670A= (p.Thr224=) c.487A= (p.Thr163=) c.931A= (p.Thr311=) c.550A= (p.Thr184=) c.133A= (p.Thr45=) | |
11 | g.2583444A>C | CA379132962 | KCNQ1 | c.670A>C (p.Thr224Pro) c.487A>C (p.Thr163Pro) c.931A>C (p.Thr311Pro) c.550A>C (p.Thr184Pro) c.133A>C (p.Thr45Pro) | |
11 | g.2583444A>G | CA008744 | KCNQ1 | c.670A>G (p.Thr224Ala) c.487A>G (p.Thr163Ala) c.931A>G (p.Thr311Ala) c.550A>G (p.Thr184Ala) c.133A>G (p.Thr45Ala) | ClinVar dbSNP |
11 | g.2583444A>T | CA379132963 | KCNQ1 | c.670A>T (p.Thr224Ser) c.487A>T (p.Thr163Ser) c.931A>T (p.Thr311Ser) c.550A>T (p.Thr184Ser) c.133A>T (p.Thr45Ser) | |
11 | g.2583445C>A | CA379132964 | KCNQ1 | c.671C>A (p.Thr224Asn) c.488C>A (p.Thr163Asn) c.932C>A (p.Thr311Asn) c.551C>A (p.Thr184Asn) c.134C>A (p.Thr45Asn) | gnomAD v4 |
11 | g.2583445C= | CA1948224634 | KCNQ1 | c.671C= (p.Thr224=) c.488C= (p.Thr163=) c.932C= (p.Thr311=) c.551C= (p.Thr184=) c.134C= (p.Thr45=) | |
11 | g.2583445C>G | CA379132965 | KCNQ1 | c.671C>G (p.Thr224Ser) c.488C>G (p.Thr163Ser) c.932C>G (p.Thr311Ser) c.551C>G (p.Thr184Ser) c.134C>G (p.Thr45Ser) | |
11 | g.2583445C>T | CA008752 | KCNQ1 | c.671C>T (p.Thr224Ile) c.488C>T (p.Thr163Ile) c.932C>T (p.Thr311Ile) c.551C>T (p.Thr184Ile) c.134C>T (p.Thr45Ile) | ClinVar dbSNP gnomAD v2 |
11 | g.2583446C>A | CA472038401 | KCNQ1 | c.672C>A (p.Thr224=) c.489C>A (p.Thr163=) c.933C>A (p.Thr311=) c.552C>A (p.Thr184=) c.135C>A (p.Thr45=) | COSMIC COSMIC |
11 | g.2583446C>G | CA472038402 | KCNQ1 | c.672C>G (p.Thr224=) c.489C>G (p.Thr163=) c.933C>G (p.Thr311=) c.552C>G (p.Thr184=) c.135C>G (p.Thr45=) | |
11 | g.2583446C>T | CA472038403 | KCNQ1 | c.672C>T (p.Thr224=) c.489C>T (p.Thr163=) c.933C>T (p.Thr311=) c.552C>T (p.Thr184=) c.135C>T (p.Thr45=) | |
11 | g.2583447del | CA645569428 | KCNQ1 | c.673del (p.Thr225ProfsTer?) c.490del (p.Thr164ProfsTer?) c.934del (p.Thr312ProfsTer?) c.553del (p.Thr185ProfsTer?) c.136del (p.Thr46ProfsTer?) | COSMIC COSMIC |
11 | g.2583447A= | CA1948224649 | KCNQ1 | c.673A= (p.Thr225=) c.490A= (p.Thr164=) c.934A= (p.Thr312=) c.553A= (p.Thr185=) c.136A= (p.Thr46=) | |
11 | g.2583447A>C | CA379132968 | KCNQ1 | c.673A>C (p.Thr225Pro) c.490A>C (p.Thr164Pro) c.934A>C (p.Thr312Pro) c.553A>C (p.Thr185Pro) c.136A>C (p.Thr46Pro) | |
11 | g.2583447A>G | CA379132967 | KCNQ1 | c.673A>G (p.Thr225Ala) c.490A>G (p.Thr164Ala) c.934A>G (p.Thr312Ala) c.553A>G (p.Thr185Ala) c.136A>G (p.Thr46Ala) | |
11 | g.2583447A>T | CA379132966 | KCNQ1 | c.673A>T (p.Thr225Ser) c.490A>T (p.Thr164Ser) c.934A>T (p.Thr312Ser) c.553A>T (p.Thr185Ser) c.136A>T (p.Thr46Ser) | ClinVar dbSNP |
11 | g.2583447_2583454dup | CA2573146065 | KCNQ1 | c.673_680dup (p.Tyr228ProfsTer?) c.490_497dup (p.Tyr167ProfsTer?) c.934_941dup (p.Tyr315ProfsTer?) c.553_560dup (p.Tyr188ProfsTer?) c.136_143dup (p.Tyr49ProfsTer?) | ClinVar dbSNP |
11 | g.2583448C>A | CA379132969 | KCNQ1 | c.674C>A (p.Thr225Asn) c.491C>A (p.Thr164Asn) c.935C>A (p.Thr312Asn) c.554C>A (p.Thr185Asn) c.137C>A (p.Thr46Asn) | |
11 | g.2583448C= | CA1948224658 | KCNQ1 | c.674C= (p.Thr225=) c.491C= (p.Thr164=) c.935C= (p.Thr312=) c.554C= (p.Thr185=) c.137C= (p.Thr46=) | |
11 | g.2583448C>G | CA379132970 | KCNQ1 | c.674C>G (p.Thr225Ser) c.491C>G (p.Thr164Ser) c.935C>G (p.Thr312Ser) c.554C>G (p.Thr185Ser) c.137C>G (p.Thr46Ser) | ClinVar |
11 | g.2583448C>T | CA008759 | KCNQ1 | c.674C>T (p.Thr225Ile) c.491C>T (p.Thr164Ile) c.935C>T (p.Thr312Ile) c.554C>T (p.Thr185Ile) c.137C>T (p.Thr46Ile) | ClinVar dbSNP |
11 | g.2583449C>A | CA472038404 | KCNQ1 | c.675C>A (p.Thr225=) c.492C>A (p.Thr164=) c.936C>A (p.Thr312=) c.555C>A (p.Thr185=) c.138C>A (p.Thr46=) | |
11 | g.2583449C= | CA1948224665 | KCNQ1 | c.675C= (p.Thr225=) c.492C= (p.Thr164=) c.936C= (p.Thr312=) c.555C= (p.Thr185=) c.138C= (p.Thr46=) | |
11 | g.2583449C>G | CA472038405 | KCNQ1 | c.675C>G (p.Thr225=) c.492C>G (p.Thr164=) c.936C>G (p.Thr312=) c.555C>G (p.Thr185=) c.138C>G (p.Thr46=) | |
11 | g.2583449C>T | CA041750 | KCNQ1 | c.675C>T (p.Thr225=) c.492C>T (p.Thr164=) c.936C>T (p.Thr312=) c.555C>T (p.Thr185=) c.138C>T (p.Thr46=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2583450A= | CA1948224672 | KCNQ1 | c.676A= (p.Ile226=) c.493A= (p.Ile165=) c.937A= (p.Ile313=) c.556A= (p.Ile186=) c.139A= (p.Ile47=) | |
11 | g.2583450A>C | CA379132973 | KCNQ1 | c.676A>C (p.Ile226Leu) c.493A>C (p.Ile165Leu) c.937A>C (p.Ile313Leu) c.556A>C (p.Ile186Leu) c.139A>C (p.Ile47Leu) | |
11 | g.2583450A>G | CA379132971 | KCNQ1 | c.676A>G (p.Ile226Val) c.493A>G (p.Ile165Val) c.937A>G (p.Ile313Val) c.556A>G (p.Ile186Val) c.139A>G (p.Ile47Val) | |
11 | g.2583450A>T | CA379132972 | KCNQ1 | c.676A>T (p.Ile226Phe) c.493A>T (p.Ile165Phe) c.937A>T (p.Ile313Phe) c.556A>T (p.Ile186Phe) c.139A>T (p.Ile47Phe) | ClinVar dbSNP |
11 | g.2583451T>A | CA379132974 | KCNQ1 | c.677T>A (p.Ile226Asn) c.494T>A (p.Ile165Asn) c.938T>A (p.Ile313Asn) c.557T>A (p.Ile186Asn) c.140T>A (p.Ile47Asn) | |
11 | g.2583451T>C | CA379132975 | KCNQ1 | c.677T>C (p.Ile226Thr) c.494T>C (p.Ile165Thr) c.938T>C (p.Ile313Thr) c.557T>C (p.Ile186Thr) c.140T>C (p.Ile47Thr) | |
11 | g.2583451T>G | CA379132976 | KCNQ1 | c.677T>G (p.Ile226Ser) c.494T>G (p.Ile165Ser) c.938T>G (p.Ile313Ser) c.557T>G (p.Ile186Ser) c.140T>G (p.Ile47Ser) | |
11 | g.2583451_2583452delinsAA | CA2695213186 | KCNQ1 | c.677_678delinsAA (p.Ile226Lys) c.494_495delinsAA (p.Ile165Lys) c.938_939delinsAA (p.Ile313Lys) c.557_558delinsAA (p.Ile186Lys) c.140_141delinsAA (p.Ile47Lys) | |
11 | g.2583452C>A | CA472038406 | KCNQ1 | c.678C>A (p.Ile226=) c.495C>A (p.Ile165=) c.939C>A (p.Ile313=) c.558C>A (p.Ile186=) c.141C>A (p.Ile47=) | |
11 | g.2583452C= | CA1948224679 | KCNQ1 | c.678C= (p.Ile226=) c.495C= (p.Ile165=) c.939C= (p.Ile313=) c.558C= (p.Ile186=) c.141C= (p.Ile47=) | |
11 | g.2583452C>G | CA008767 | KCNQ1 | c.678C>G (p.Ile226Met) c.495C>G (p.Ile165Met) c.939C>G (p.Ile313Met) c.558C>G (p.Ile186Met) c.141C>G (p.Ile47Met) | ClinVar dbSNP |
11 | g.2583452C>T | CA041764 | KCNQ1 | c.678C>T (p.Ile226=) c.495C>T (p.Ile165=) c.939C>T (p.Ile313=) c.558C>T (p.Ile186=) c.141C>T (p.Ile47=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2583453G>A | CA008773 | KCNQ1 | c.679G>A (p.Gly227Ser) c.496G>A (p.Gly166Ser) c.940G>A (p.Gly314Ser) c.559G>A (p.Gly187Ser) c.142G>A (p.Gly48Ser) | ClinVar dbSNP |
11 | g.2583453G>C | CA008777 | KCNQ1 | c.679G>C (p.Gly227Arg) c.496G>C (p.Gly166Arg) c.940G>C (p.Gly314Arg) c.559G>C (p.Gly187Arg) c.142G>C (p.Gly48Arg) | ClinVar dbSNP |
11 | g.2583453G= | CA1948224692 | KCNQ1 | c.679G= (p.Gly227=) c.496G= (p.Gly166=) c.940G= (p.Gly314=) c.559G= (p.Gly187=) c.142G= (p.Gly48=) | |
11 | g.2583453G>T | CA008786 | KCNQ1 | c.679G>T (p.Gly227Cys) c.496G>T (p.Gly166Cys) c.940G>T (p.Gly314Cys) c.559G>T (p.Gly187Cys) c.142G>T (p.Gly48Cys) | ClinVar dbSNP |
11 | g.2583454G>A | CA008793 | KCNQ1 | c.680G>A (p.Gly227Asp) c.497G>A (p.Gly166Asp) c.941G>A (p.Gly314Asp) c.560G>A (p.Gly187Asp) c.143G>A (p.Gly48Asp) | ClinVar dbSNP |
11 | g.2583454G>C | CA008798 | KCNQ1 | c.680G>C (p.Gly227Ala) c.497G>C (p.Gly166Ala) c.941G>C (p.Gly314Ala) c.560G>C (p.Gly187Ala) c.143G>C (p.Gly48Ala) | ClinVar dbSNP |
11 | g.2583454G= | CA1948224700 | KCNQ1 | c.680G= (p.Gly227=) c.497G= (p.Gly166=) c.941G= (p.Gly314=) c.560G= (p.Gly187=) c.143G= (p.Gly48=) | |
11 | g.2583454G>T | CA379132977 | KCNQ1 | c.680G>T (p.Gly227Val) c.497G>T (p.Gly166Val) c.941G>T (p.Gly314Val) c.560G>T (p.Gly187Val) c.143G>T (p.Gly48Val) | |
11 | g.2583455C>A | CA472038407 | KCNQ1 | c.681C>A (p.Gly227=) c.498C>A (p.Gly166=) c.942C>A (p.Gly314=) c.561C>A (p.Gly187=) c.144C>A (p.Gly48=) | |
11 | g.2583455C>G | CA472038408 | KCNQ1 | c.681C>G (p.Gly227=) c.498C>G (p.Gly166=) c.942C>G (p.Gly314=) c.561C>G (p.Gly187=) c.144C>G (p.Gly48=) | |
11 | g.2583455C>T | CA472038409 | KCNQ1 | c.681C>T (p.Gly227=) c.498C>T (p.Gly166=) c.942C>T (p.Gly314=) c.561C>T (p.Gly187=) c.144C>T (p.Gly48=) | |
11 | g.2583456T>A | CA379132980 | KCNQ1 | c.682T>A (p.Tyr228Asn) c.499T>A (p.Tyr167Asn) c.943T>A (p.Tyr315Asn) c.562T>A (p.Tyr188Asn) c.145T>A (p.Tyr49Asn) | ClinVar dbSNP |
11 | g.2583456T>C | CA379132979 | KCNQ1 | c.682T>C (p.Tyr228His) c.499T>C (p.Tyr167His) c.943T>C (p.Tyr315His) c.562T>C (p.Tyr188His) c.145T>C (p.Tyr49His) | ClinVar dbSNP |
11 | g.2583456T>G | CA379132978 | KCNQ1 | c.682T>G (p.Tyr228Asp) c.499T>G (p.Tyr167Asp) c.943T>G (p.Tyr315Asp) c.562T>G (p.Tyr188Asp) c.145T>G (p.Tyr49Asp) | |
11 | g.2583456T= | CA1948224708 | KCNQ1 | c.682T= (p.Tyr228=) c.499T= (p.Tyr167=) c.943T= (p.Tyr315=) c.562T= (p.Tyr188=) c.145T= (p.Tyr49=) | |
11 | g.2583457A= | CA1948224723 | KCNQ1 | c.683A= (p.Tyr228=) c.500A= (p.Tyr167=) c.944A= (p.Tyr315=) c.563A= (p.Tyr188=) c.146A= (p.Tyr49=) | |
11 | g.2583457A>C | CA008803 | KCNQ1 | c.683A>C (p.Tyr228Ser) c.500A>C (p.Tyr167Ser) c.944A>C (p.Tyr315Ser) c.563A>C (p.Tyr188Ser) c.146A>C (p.Tyr49Ser) | ClinVar dbSNP |
11 | g.2583457A>G | CA008807 | KCNQ1 | c.683A>G (p.Tyr228Cys) c.500A>G (p.Tyr167Cys) c.944A>G (p.Tyr315Cys) c.563A>G (p.Tyr188Cys) c.146A>G (p.Tyr49Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.2583457A>T | CA008817 | KCNQ1 | c.683A>T (p.Tyr228Phe) c.500A>T (p.Tyr167Phe) c.944A>T (p.Tyr315Phe) c.563A>T (p.Tyr188Phe) c.146A>T (p.Tyr49Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.2583458T>A | CA379132981 | KCNQ1 | c.684T>A (p.Tyr228Ter) c.501T>A (p.Tyr167Ter) c.945T>A (p.Tyr315Ter) c.564T>A (p.Tyr188Ter) c.147T>A (p.Tyr49Ter) | |
11 | g.2583458T>C | CA041785 | KCNQ1 | c.684T>C (p.Tyr228=) c.501T>C (p.Tyr167=) c.945T>C (p.Tyr315=) c.564T>C (p.Tyr188=) c.147T>C (p.Tyr49=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2583458T>G | CA379132982 | KCNQ1 | c.684T>G (p.Tyr228Ter) c.501T>G (p.Tyr167Ter) c.945T>G (p.Tyr315Ter) c.564T>G (p.Tyr188Ter) c.147T>G (p.Tyr49Ter) | |
11 | g.2583458T= | CA1948224744 | KCNQ1 | c.684T= (p.Tyr228=) c.501T= (p.Tyr167=) c.945T= (p.Tyr315=) c.564T= (p.Tyr188=) c.147T= (p.Tyr49=) | |
11 | g.2583459G>A | CA008823 | KCNQ1 | c.685G>A (p.Gly229Arg) c.502G>A (p.Gly168Arg) c.946G>A (p.Gly316Arg) c.565G>A (p.Gly189Arg) c.148G>A (p.Gly50Arg) | ClinVar dbSNP |
11 | g.2583459G>C | CA008832 | KCNQ1 | c.685G>C (p.Gly229Arg) c.502G>C (p.Gly168Arg) c.946G>C (p.Gly316Arg) c.565G>C (p.Gly189Arg) c.148G>C (p.Gly50Arg) | ClinVar dbSNP |
11 | g.2583459G= | CA1948224751 | KCNQ1 | c.685G= (p.Gly229=) c.502G= (p.Gly168=) c.946G= (p.Gly316=) c.565G= (p.Gly189=) c.148G= (p.Gly50=) | |
11 | g.2583459G>T | CA008840 | KCNQ1 | c.685G>T (p.Gly229Trp) c.502G>T (p.Gly168Trp) c.946G>T (p.Gly316Trp) c.565G>T (p.Gly189Trp) c.148G>T (p.Gly50Trp) | ClinVar dbSNP |
11 | g.2583462del | CA2838524938 | KCNQ1 | c.688del (p.Asp230ThrfsTer?) c.505del (p.Asp169ThrfsTer?) c.949del (p.Asp317ThrfsTer?) c.568del (p.Asp190ThrfsTer?) c.151del (p.Asp51ThrfsTer?) | |
11 | g.2583460G>A | CA008848 | KCNQ1 | c.686G>A (p.Gly229Glu) c.503G>A (p.Gly168Glu) c.947G>A (p.Gly316Glu) c.566G>A (p.Gly189Glu) c.149G>A (p.Gly50Glu) | ClinVar dbSNP |
11 | g.2583460G>C | CA379132983 | KCNQ1 | c.686G>C (p.Gly229Ala) c.503G>C (p.Gly168Ala) c.947G>C (p.Gly316Ala) c.566G>C (p.Gly189Ala) c.149G>C (p.Gly50Ala) | ClinVar |
11 | g.2583460G= | CA1948224760 | KCNQ1 | c.686G= (p.Gly229=) c.503G= (p.Gly168=) c.947G= (p.Gly316=) c.566G= (p.Gly189=) c.149G= (p.Gly50=) | |
11 | g.2583460G>T | CA008856 | KCNQ1 | c.686G>T (p.Gly229Val) c.503G>T (p.Gly168Val) c.947G>T (p.Gly316Val) c.566G>T (p.Gly189Val) c.149G>T (p.Gly50Val) | ClinVar dbSNP |
11 | g.2583461G>A | CA472038410 | KCNQ1 | c.687G>A (p.Gly229=) c.504G>A (p.Gly168=) c.948G>A (p.Gly316=) c.567G>A (p.Gly189=) c.150G>A (p.Gly50=) | ClinVar dbSNP |
11 | g.2583461G>C | CA008864 | KCNQ1 | c.687G>C (p.Gly229=) c.504G>C (p.Gly168=) c.948G>C (p.Gly316=) c.567G>C (p.Gly189=) c.150G>C (p.Gly50=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2583461G= | CA1948224775 | KCNQ1 | c.687G= (p.Gly229=) c.504G= (p.Gly168=) c.948G= (p.Gly316=) c.567G= (p.Gly189=) c.150G= (p.Gly50=) | |
11 | g.2583461G>T | CA472038411 | KCNQ1 | c.687G>T (p.Gly229=) c.504G>T (p.Gly168=) c.948G>T (p.Gly316=) c.567G>T (p.Gly189=) c.150G>T (p.Gly50=) | |
11 | g.2583462G>A | CA008869 | KCNQ1 | c.688G>A (p.Asp230Asn) c.505G>A (p.Asp169Asn) c.949G>A (p.Asp317Asn) c.568G>A (p.Asp190Asn) c.151G>A (p.Asp51Asn) | ClinVar dbSNP |
11 | g.2583462G>C | CA379132984 | KCNQ1 | c.688G>C (p.Asp230His) c.505G>C (p.Asp169His) c.949G>C (p.Asp317His) c.568G>C (p.Asp190His) c.151G>C (p.Asp51His) | |
11 | g.2583462G= | CA1948224789 | KCNQ1 | c.688G= (p.Asp230=) c.505G= (p.Asp169=) c.949G= (p.Asp317=) c.568G= (p.Asp190=) c.151G= (p.Asp51=) | |
11 | g.2583462G>T | CA008878 | KCNQ1 | c.688G>T (p.Asp230Tyr) c.505G>T (p.Asp169Tyr) c.949G>T (p.Asp317Tyr) c.568G>T (p.Asp190Tyr) c.151G>T (p.Asp51Tyr) | ClinVar dbSNP |
11 | g.2583463A= | CA1948224796 | KCNQ1 | c.689A= (p.Asp230=) c.506A= (p.Asp169=) c.950A= (p.Asp317=) c.569A= (p.Asp190=) c.152A= (p.Asp51=) | |
11 | g.2583463A>C | CA379132985 | KCNQ1 | c.689A>C (p.Asp230Ala) c.506A>C (p.Asp169Ala) c.950A>C (p.Asp317Ala) c.569A>C (p.Asp190Ala) c.152A>C (p.Asp51Ala) | ClinVar dbSNP |
11 | g.2583463A>G | CA008884 | KCNQ1 | c.689A>G (p.Asp230Gly) c.506A>G (p.Asp169Gly) c.950A>G (p.Asp317Gly) c.569A>G (p.Asp190Gly) c.152A>G (p.Asp51Gly) | ClinVar dbSNP |
11 | g.2583463A>T | CA379132986 | KCNQ1 | c.689A>T (p.Asp230Val) c.506A>T (p.Asp169Val) c.950A>T (p.Asp317Val) c.569A>T (p.Asp190Val) c.152A>T (p.Asp51Val) | |
11 | g.2583464C>A | CA379132987 | KCNQ1 | c.690C>A (p.Asp230Glu) c.507C>A (p.Asp169Glu) c.951C>A (p.Asp317Glu) c.570C>A (p.Asp190Glu) c.153C>A (p.Asp51Glu) | |
11 | g.2583464C>G | CA379132988 | KCNQ1 | c.690C>G (p.Asp230Glu) c.507C>G (p.Asp169Glu) c.951C>G (p.Asp317Glu) c.570C>G (p.Asp190Glu) c.153C>G (p.Asp51Glu) | gnomAD v4 |
11 | g.2583464C>T | CA472038412 | KCNQ1 | c.690C>T (p.Asp230=) c.507C>T (p.Asp169=) c.951C>T (p.Asp317=) c.570C>T (p.Asp190=) c.153C>T (p.Asp51=) | |
11 | g.2583465A>C | CA379132989 | KCNQ1 | c.691A>C (p.Lys231Gln) c.508A>C (p.Lys170Gln) c.952A>C (p.Lys318Gln) c.571A>C (p.Lys191Gln) c.154A>C (p.Lys52Gln) | |
11 | g.2583465A>G | CA379132990 | KCNQ1 | c.691A>G (p.Lys231Glu) c.508A>G (p.Lys170Glu) c.952A>G (p.Lys318Glu) c.571A>G (p.Lys191Glu) c.154A>G (p.Lys52Glu) | |
11 | g.2583465A>T | CA379132991 | KCNQ1 | c.691A>T (p.Lys231Ter) c.508A>T (p.Lys170Ter) c.952A>T (p.Lys318Ter) c.571A>T (p.Lys191Ter) c.154A>T (p.Lys52Ter) | |
11 | g.2583466A= | CA1948224809 | KCNQ1 | c.692A= (p.Lys231=) c.509A= (p.Lys170=) c.953A= (p.Lys318=) c.572A= (p.Lys191=) c.155A= (p.Lys52=) | |
11 | g.2583466A>C | CA008890 | KCNQ1 | c.692A>C (p.Lys231Thr) c.509A>C (p.Lys170Thr) c.953A>C (p.Lys318Thr) c.572A>C (p.Lys191Thr) c.155A>C (p.Lys52Thr) | ClinVar dbSNP gnomAD v4 |
11 | g.2583466A>G | CA379132992 | KCNQ1 | c.692A>G (p.Lys231Arg) c.509A>G (p.Lys170Arg) c.953A>G (p.Lys318Arg) c.572A>G (p.Lys191Arg) c.155A>G (p.Lys52Arg) | |
11 | g.2583466A>T | CA379132993 | KCNQ1 | c.692A>T (p.Lys231Met) c.509A>T (p.Lys170Met) c.953A>T (p.Lys318Met) c.572A>T (p.Lys191Met) c.155A>T (p.Lys52Met) | |
11 | g.2583467G>A | CA472038413 | KCNQ1 | c.693G>A (p.Lys231=) c.510G>A (p.Lys170=) c.954G>A (p.Lys318=) c.573G>A (p.Lys191=) c.156G>A (p.Lys52=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2583467G>C | CA008895 | KCNQ1 | c.693G>C (p.Lys231Asn) c.510G>C (p.Lys170Asn) c.954G>C (p.Lys318Asn) c.573G>C (p.Lys191Asn) c.156G>C (p.Lys52Asn) | ClinVar dbSNP |
11 | g.2583467G= | CA1948224817 | KCNQ1 | c.693G= (p.Lys231=) c.510G= (p.Lys170=) c.954G= (p.Lys318=) c.573G= (p.Lys191=) c.156G= (p.Lys52=) | |
11 | g.2583467G>T | CA379132994 | KCNQ1 | c.693G>T (p.Lys231Asn) c.510G>T (p.Lys170Asn) c.954G>T (p.Lys318Asn) c.573G>T (p.Lys191Asn) c.156G>T (p.Lys52Asn) | |
11 | g.2583468G>A | CA379132995 | KCNQ1 | c.694G>A (p.Val232Met) c.511G>A (p.Val171Met) c.955G>A (p.Val319Met) c.574G>A (p.Val192Met) c.157G>A (p.Val53Met) | ClinVar dbSNP |
11 | g.2583468G>C | CA379132997 | KCNQ1 | c.694G>C (p.Val232Leu) c.511G>C (p.Val171Leu) c.955G>C (p.Val319Leu) c.574G>C (p.Val192Leu) c.157G>C (p.Val53Leu) | |
11 | g.2583468G= | CA1948224824 | KCNQ1 | c.694G= (p.Val232=) c.511G= (p.Val171=) c.955G= (p.Val319=) c.574G= (p.Val192=) c.157G= (p.Val53=) | |
11 | g.2583468G>T | CA379132996 | KCNQ1 | c.694G>T (p.Val232Leu) c.511G>T (p.Val171Leu) c.955G>T (p.Val319Leu) c.574G>T (p.Val192Leu) c.157G>T (p.Val53Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2583469T>A | CA379132998 | KCNQ1 | c.695T>A (p.Val232Glu) c.512T>A (p.Val171Glu) c.956T>A (p.Val319Glu) c.575T>A (p.Val192Glu) c.158T>A (p.Val53Glu) | |
11 | g.2583469T>C | CA379132999 | KCNQ1 | c.695T>C (p.Val232Ala) c.512T>C (p.Val171Ala) c.956T>C (p.Val319Ala) c.575T>C (p.Val192Ala) c.158T>C (p.Val53Ala) | |
11 | g.2583469T>G | CA379133000 | KCNQ1 | c.695T>G (p.Val232Gly) c.512T>G (p.Val171Gly) c.956T>G (p.Val319Gly) c.575T>G (p.Val192Gly) c.158T>G (p.Val53Gly) | dbSNP COSMIC COSMIC |
11 | g.2583469T= | CA1948224833 | KCNQ1 | c.695T= (p.Val232=) c.512T= (p.Val171=) c.956T= (p.Val319=) c.575T= (p.Val192=) c.158T= (p.Val53=) | |
11 | g.2583470G>A | CA216327228 | KCNQ1 | c.696G>A (p.Val232=) c.513G>A (p.Val171=) c.957G>A (p.Val319=) c.576G>A (p.Val192=) c.159G>A (p.Val53=) | dbSNP |
11 | g.2583470G>C | CA472038414 | KCNQ1 | c.696G>C (p.Val232=) c.513G>C (p.Val171=) c.957G>C (p.Val319=) c.576G>C (p.Val192=) c.159G>C (p.Val53=) | |
11 | g.2583470G= | CA1948224839 | KCNQ1 | c.696G= (p.Val232=) c.513G= (p.Val171=) c.957G= (p.Val319=) c.576G= (p.Val192=) c.159G= (p.Val53=) | |
11 | g.2583470G>T | CA16606302 | KCNQ1 | c.696G>T (p.Val232=) c.513G>T (p.Val171=) c.957G>T (p.Val319=) c.576G>T (p.Val192=) c.159G>T (p.Val53=) | ClinVar dbSNP gnomAD v4 |
11 | g.2583470_2583471delinsTT | CA2580082604 | KCNQ1 | c.696_697delinsTT (p.Pro233Ser) c.513_514delinsTT (p.Pro172Ser) c.957_958delinsTT (p.Pro320Ser) c.576_577delinsTT (p.Pro193Ser) c.159_160delinsTT (p.Pro54Ser) | ClinVar |
11 | g.2583471C>A | CA379133001 | KCNQ1 | c.697C>A (p.Pro233Thr) c.514C>A (p.Pro172Thr) c.958C>A (p.Pro320Thr) c.577C>A (p.Pro193Thr) c.160C>A (p.Pro54Thr) | |
11 | g.2583471C= | CA1948224843 | KCNQ1 | c.697C= (p.Pro233=) c.514C= (p.Pro172=) c.958C= (p.Pro320=) c.577C= (p.Pro193=) c.160C= (p.Pro54=) | |
11 | g.2583471C>G | CA008901 | KCNQ1 | c.697C>G (p.Pro233Ala) c.514C>G (p.Pro172Ala) c.958C>G (p.Pro320Ala) c.577C>G (p.Pro193Ala) c.160C>G (p.Pro54Ala) | ClinVar dbSNP |
11 | g.2583471C>T | CA008910 | KCNQ1 | c.697C>T (p.Pro233Ser) c.514C>T (p.Pro172Ser) c.958C>T (p.Pro320Ser) c.577C>T (p.Pro193Ser) c.160C>T (p.Pro54Ser) | ClinVar dbSNP gnomAD v4 |
11 | g.2583472C>A | CA008917 | KCNQ1 | c.698C>A (p.Pro233His) c.515C>A (p.Pro172His) c.959C>A (p.Pro320His) c.578C>A (p.Pro193His) c.161C>A (p.Pro54His) | ClinVar dbSNP |
11 | g.2583472C= | CA1948224851 | KCNQ1 | c.698C= (p.Pro233=) c.515C= (p.Pro172=) c.959C= (p.Pro320=) c.578C= (p.Pro193=) c.161C= (p.Pro54=) | |
11 | g.2583472C>G | CA379133002 | KCNQ1 | c.698C>G (p.Pro233Arg) c.515C>G (p.Pro172Arg) c.959C>G (p.Pro320Arg) c.578C>G (p.Pro193Arg) c.161C>G (p.Pro54Arg) | ClinVar |
11 | g.2583472C>T | CA379133003 | KCNQ1 | c.698C>T (p.Pro233Leu) c.515C>T (p.Pro172Leu) c.959C>T (p.Pro320Leu) c.578C>T (p.Pro193Leu) c.161C>T (p.Pro54Leu) | ClinVar dbSNP |
11 | g.2583472_2583473delinsTT | CA645569440 | KCNQ1 | c.698_699delinsTT (p.Pro233Leu) c.515_516delinsTT (p.Pro172Leu) c.959_960delinsTT (p.Pro320Leu) c.578_579delinsTT (p.Pro193Leu) c.161_162delinsTT (p.Pro54Leu) | COSMIC |
11 | g.2583473C>A | CA472038415 | KCNQ1 | c.699C>A (p.Pro233=) c.516C>A (p.Pro172=) c.960C>A (p.Pro320=) c.579C>A (p.Pro193=) c.162C>A (p.Pro54=) | |
11 | g.2583473C= | CA1948224859 | KCNQ1 | c.699C= (p.Pro233=) c.516C= (p.Pro172=) c.960C= (p.Pro320=) c.579C= (p.Pro193=) c.162C= (p.Pro54=) | |
11 | g.2583473C>G | CA472038416 | KCNQ1 | c.699C>G (p.Pro233=) c.516C>G (p.Pro172=) c.960C>G (p.Pro320=) c.579C>G (p.Pro193=) c.162C>G (p.Pro54=) | dbSNP gnomAD v2 |
11 | g.2583473C>T | CA041816 | KCNQ1 | c.699C>T (p.Pro233=) c.516C>T (p.Pro172=) c.960C>T (p.Pro320=) c.579C>T (p.Pro193=) c.162C>T (p.Pro54=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2583474C>A | CA379133005 | KCNQ1 | c.700C>A (p.Gln234Lys) c.517C>A (p.Gln173Lys) c.961C>A (p.Gln321Lys) c.580C>A (p.Gln194Lys) c.163C>A (p.Gln55Lys) | |
11 | g.2583474C= | CA1948224864 | KCNQ1 | c.700C= (p.Gln234=) c.517C= (p.Gln173=) c.961C= (p.Gln321=) c.580C= (p.Gln194=) c.163C= (p.Gln55=) | |
11 | g.2583474C>G | CA379133004 | KCNQ1 | c.700C>G (p.Gln234Glu) c.517C>G (p.Gln173Glu) c.961C>G (p.Gln321Glu) c.580C>G (p.Gln194Glu) c.163C>G (p.Gln55Glu) | |
11 | g.2583474C>T | CA008923 | KCNQ1 | c.700C>T (p.Gln234Ter) c.517C>T (p.Gln173Ter) c.961C>T (p.Gln321Ter) c.580C>T (p.Gln194Ter) c.163C>T (p.Gln55Ter) | ClinVar dbSNP |
11 | g.2583475A= | CA1948224869 | KCNQ1 | c.701A= (p.Gln234=) c.518A= (p.Gln173=) c.962A= (p.Gln321=) c.581A= (p.Gln194=) c.164A= (p.Gln55=) | |
11 | g.2583475A>C | CA008930 | KCNQ1 | c.701A>C (p.Gln234Pro) c.518A>C (p.Gln173Pro) c.962A>C (p.Gln321Pro) c.581A>C (p.Gln194Pro) c.164A>C (p.Gln55Pro) | ClinVar dbSNP |
11 | g.2583475A>G | CA379133007 | KCNQ1 | c.701A>G (p.Gln234Arg) c.518A>G (p.Gln173Arg) c.962A>G (p.Gln321Arg) c.581A>G (p.Gln194Arg) c.164A>G (p.Gln55Arg) | |
11 | g.2583475A>T | CA379133006 | KCNQ1 | c.701A>T (p.Gln234Leu) c.518A>T (p.Gln173Leu) c.962A>T (p.Gln321Leu) c.581A>T (p.Gln194Leu) c.164A>T (p.Gln55Leu) | dbSNP |