Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70175692G>A | CA329699 | KCNJ2 | c.653G>A (p.Arg218Gln) | ClinVar dbSNP COSMIC |
17 | g.70175692G>C | CA400861474 | KCNJ2 | c.653G>C (p.Arg218Pro) | ClinVar dbSNP |
17 | g.70175692G= | CA2272996652 | KCNJ2 | c.653G= (p.Arg218=) | |
17 | g.70175692G>T | CA302043 | KCNJ2 | c.653G>T (p.Arg218Leu) | ClinVar dbSNP |
17 | g.70175693G>A | CA501700792 | KCNJ2 | c.654G>A (p.Arg218=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175693G>C | CA501700793 | KCNJ2 | c.654G>C (p.Arg218=) | |
17 | g.70175693G= | CA2272996653 | KCNJ2 | c.654G= (p.Arg218=) | |
17 | g.70175693G>T | CA501700794 | KCNJ2 | c.654G>T (p.Arg218=) | |
17 | g.70175694A>C | CA400861478 | KCNJ2 | c.655A>C (p.Lys219Gln) | |
17 | g.70175694A>G | CA400861480 | KCNJ2 | c.655A>G (p.Lys219Glu) | |
17 | g.70175694A>T | CA400861481 | KCNJ2 | c.655A>T (p.Lys219Ter) | |
17 | g.70175695A>C | CA400861483 | KCNJ2 | c.656A>C (p.Lys219Thr) | |
17 | g.70175695A>G | CA400861487 | KCNJ2 | c.656A>G (p.Lys219Arg) | gnomAD v4 |
17 | g.70175695A>T | CA400861485 | KCNJ2 | c.656A>T (p.Lys219Ile) | |
17 | g.70175696A>C | CA400861490 | KCNJ2 | c.657A>C (p.Lys219Asn) | |
17 | g.70175696A>G | CA501700802 | KCNJ2 | c.657A>G (p.Lys219=) | |
17 | g.70175696A>T | CA400861491 | KCNJ2 | c.657A>T (p.Lys219Asn) | |
17 | g.70175697A>C | CA400861495 | KCNJ2 | c.658A>C (p.Ser220Arg) | |
17 | g.70175697A>G | CA400861496 | KCNJ2 | c.658A>G (p.Ser220Gly) | |
17 | g.70175697A>T | CA400861499 | KCNJ2 | c.658A>T (p.Ser220Cys) | |
17 | g.70175698G>A | CA400861501 | KCNJ2 | c.659G>A (p.Ser220Asn) | ClinVar dbSNP COSMIC |
17 | g.70175698G>C | CA400861503 | KCNJ2 | c.659G>C (p.Ser220Thr) | |
17 | g.70175698G= | CA2272996654 | KCNJ2 | c.659G= (p.Ser220=) | |
17 | g.70175698G>T | CA400861505 | KCNJ2 | c.659G>T (p.Ser220Ile) | |
17 | g.70175699C>A | CA400861506 | KCNJ2 | c.660C>A (p.Ser220Arg) | |
17 | g.70175699C= | CA2272996655 | KCNJ2 | c.660C= (p.Ser220=) | |
17 | g.70175699C>G | CA400861509 | KCNJ2 | c.660C>G (p.Ser220Arg) | |
17 | g.70175699C>T | CA214114 | KCNJ2 | c.660C>T (p.Ser220=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175700C>A | CA400861512 | KCNJ2 | c.661C>A (p.His221Asn) | |
17 | g.70175700C>G | CA400861516 | KCNJ2 | c.661C>G (p.His221Asp) | |
17 | g.70175700C>T | CA400861514 | KCNJ2 | c.661C>T (p.His221Tyr) | |
17 | g.70175701A>C | CA400861518 | KCNJ2 | c.662A>C (p.His221Pro) | |
17 | g.70175701A>G | CA400861520 | KCNJ2 | c.662A>G (p.His221Arg) | gnomAD v4 |
17 | g.70175701A>T | CA400861522 | KCNJ2 | c.662A>T (p.His221Leu) | |
17 | g.70175702C>A | CA400861524 | KCNJ2 | c.663C>A (p.His221Gln) | |
17 | g.70175702C>G | CA400861526 | KCNJ2 | c.663C>G (p.His221Gln) | gnomAD v4 |
17 | g.70175702C>T | CA501700804 | KCNJ2 | c.663C>T (p.His221=) | |
17 | g.70175703T>A | CA400861528 | KCNJ2 | c.664T>A (p.Leu222Met) | |
17 | g.70175703T>C | CA8738754 | KCNJ2 | c.664T>C (p.Leu222=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175703T>G | CA400861531 | KCNJ2 | c.664T>G (p.Leu222Val) | |
17 | g.70175703T= | CA2272996656 | KCNJ2 | c.664T= (p.Leu222=) | |
17 | g.70175704T>A | CA400861534 | KCNJ2 | c.665T>A (p.Leu222Ter) | |
17 | g.70175704T>C | CA400861536 | KCNJ2 | c.665T>C (p.Leu222Ser) | ClinVar dbSNP |
17 | g.70175704T>G | CA400861538 | KCNJ2 | c.665T>G (p.Leu222Trp) | |
17 | g.70175704T= | CA2272996657 | KCNJ2 | c.665T= (p.Leu222=) | |
17 | g.70175705G>A | CA501700809 | KCNJ2 | c.666G>A (p.Leu222=) | |
17 | g.70175705G>C | CA400861540 | KCNJ2 | c.666G>C (p.Leu222Phe) | |
17 | g.70175705G>T | CA400861542 | KCNJ2 | c.666G>T (p.Leu222Phe) | |
17 | g.70175706G>A | CA400861545 | KCNJ2 | c.667G>A (p.Val223Met) | |
17 | g.70175706G>C | CA400861548 | KCNJ2 | c.667G>C (p.Val223Leu) | |
17 | g.70175706G>T | CA400861546 | KCNJ2 | c.667G>T (p.Val223Leu) | |
17 | g.70175707T>A | CA400861550 | KCNJ2 | c.668T>A (p.Val223Glu) | |
17 | g.70175707T>C | CA400861552 | KCNJ2 | c.668T>C (p.Val223Ala) | |
17 | g.70175707T>G | CA400861553 | KCNJ2 | c.668T>G (p.Val223Gly) | ClinVar dbSNP |
17 | g.70175707T= | CA2272996658 | KCNJ2 | c.668T= (p.Val223=) | |
17 | g.70175708G>A | CA501700813 | KCNJ2 | c.669G>A (p.Val223=) | |
17 | g.70175708G>C | CA501700815 | KCNJ2 | c.669G>C (p.Val223=) | |
17 | g.70175708G>T | CA501700817 | KCNJ2 | c.669G>T (p.Val223=) | |
17 | g.70175709G>A | CA400861555 | KCNJ2 | c.670G>A (p.Glu224Lys) | |
17 | g.70175709G>C | CA400861557 | KCNJ2 | c.670G>C (p.Glu224Gln) | |
17 | g.70175709G>T | CA400861559 | KCNJ2 | c.670G>T (p.Glu224Ter) | gnomAD v4 |
17 | g.70175710A>C | CA400861561 | KCNJ2 | c.671A>C (p.Glu224Ala) | |
17 | g.70175710A>G | CA400861564 | KCNJ2 | c.671A>G (p.Glu224Gly) | |
17 | g.70175710A>T | CA400861566 | KCNJ2 | c.671A>T (p.Glu224Val) | |
17 | g.70175711A>C | CA400861568 | KCNJ2 | c.672A>C (p.Glu224Asp) | |
17 | g.70175711A>G | CA501700821 | KCNJ2 | c.672A>G (p.Glu224=) | |
17 | g.70175711A>T | CA400861569 | KCNJ2 | c.672A>T (p.Glu224Asp) | |
17 | g.70175712G>A | CA400861573 | KCNJ2 | c.673G>A (p.Ala225Thr) | |
17 | g.70175712G>C | CA400861575 | KCNJ2 | c.673G>C (p.Ala225Pro) | |
17 | g.70175712G>T | CA400861571 | KCNJ2 | c.673G>T (p.Ala225Ser) | |
17 | g.70175713C>A | CA400861577 | KCNJ2 | c.674C>A (p.Ala225Asp) | |
17 | g.70175713C>G | CA400861579 | KCNJ2 | c.674C>G (p.Ala225Gly) | gnomAD v4 |
17 | g.70175713C>T | CA400861582 | KCNJ2 | c.674C>T (p.Ala225Val) | |
17 | g.70175714T>A | CA501700822 | KCNJ2 | c.675T>A (p.Ala225=) | |
17 | g.70175714T>C | CA8738755 | KCNJ2 | c.675T>C (p.Ala225=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175714T>G | CA501700823 | KCNJ2 | c.675T>G (p.Ala225=) | |
17 | g.70175714T= | CA2272996659 | KCNJ2 | c.675T= (p.Ala225=) | |
17 | g.70175715C>A | CA400861585 | KCNJ2 | c.676C>A (p.His226Asn) | |
17 | g.70175715C>G | CA400861587 | KCNJ2 | c.676C>G (p.His226Asp) | |
17 | g.70175715C>T | CA400861589 | KCNJ2 | c.676C>T (p.His226Tyr) | |
17 | g.70175716A>C | CA400861590 | KCNJ2 | c.677A>C (p.His226Pro) | gnomAD v4 |
17 | g.70175716A>G | CA400861592 | KCNJ2 | c.677A>G (p.His226Arg) | |
17 | g.70175716A>T | CA400861594 | KCNJ2 | c.677A>T (p.His226Leu) | |
17 | g.70175717T>A | CA400861596 | KCNJ2 | c.678T>A (p.His226Gln) | |
17 | g.70175717T>C | CA8738756 | KCNJ2 | c.678T>C (p.His226=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175717T>G | CA400861599 | KCNJ2 | c.678T>G (p.His226Gln) | |
17 | g.70175717T= | CA2272996660 | KCNJ2 | c.678T= (p.His226=) | |
17 | g.70175718G>A | CA400861615 | KCNJ2 | c.679G>A (p.Val227Ile) | COSMIC |
17 | g.70175718G>C | CA400861613 | KCNJ2 | c.679G>C (p.Val227Leu) | gnomAD v4 |
17 | g.70175718G= | CA2272996661 | KCNJ2 | c.679G= (p.Val227=) | |
17 | g.70175718G>T | CA145019 | KCNJ2 | c.679G>T (p.Val227Phe) | ClinVar dbSNP |
17 | g.70175719T>A | CA400861617 | KCNJ2 | c.680T>A (p.Val227Asp) | |
17 | g.70175719T>C | CA400861618 | KCNJ2 | c.680T>C (p.Val227Ala) | |
17 | g.70175719T>G | CA400861620 | KCNJ2 | c.680T>G (p.Val227Gly) | |
17 | g.70175720T>A | CA501700826 | KCNJ2 | c.681T>A (p.Val227=) | |
17 | g.70175720T>C | CA501700824 | KCNJ2 | c.681T>C (p.Val227=) | |
17 | g.70175720T>G | CA501700825 | KCNJ2 | c.681T>G (p.Val227=) | |
17 | g.70175721C>A | CA501700827 | KCNJ2 | c.682C>A (p.Arg228=) | |
17 | g.70175721C= | CA2272996662 | KCNJ2 | c.682C= (p.Arg228=) | |
17 | g.70175721C>G | CA400861622 | KCNJ2 | c.682C>G (p.Arg228Gly) | |
17 | g.70175721C>T | CA16615988 | KCNJ2 | c.682C>T (p.Arg228Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.70175722G>A | CA400861625 | KCNJ2 | c.683G>A (p.Arg228Gln) | ClinVar dbSNP gnomAD v4 |
17 | g.70175722G>C | CA400861627 | KCNJ2 | c.683G>C (p.Arg228Pro) | COSMIC |
17 | g.70175722G= | CA2272996663 | KCNJ2 | c.683G= (p.Arg228=) | |
17 | g.70175722G>T | CA400861629 | KCNJ2 | c.683G>T (p.Arg228Leu) | |
17 | g.70175723A= | CA2272996664 | KCNJ2 | c.684A= (p.Arg228=) | |
17 | g.70175723A>C | CA8738757 | KCNJ2 | c.684A>C (p.Arg228=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175723A>G | CA501700828 | KCNJ2 | c.684A>G (p.Arg228=) | |
17 | g.70175723A>T | CA501700829 | KCNJ2 | c.684A>T (p.Arg228=) | dbSNP |
17 | g.70175724G>A | CA400861632 | KCNJ2 | c.685G>A (p.Ala229Thr) | |
17 | g.70175724G>C | CA400861634 | KCNJ2 | c.685G>C (p.Ala229Pro) | |
17 | g.70175724G= | CA2272996665 | KCNJ2 | c.685G= (p.Ala229=) | |
17 | g.70175724G>T | CA400861636 | KCNJ2 | c.685G>T (p.Ala229Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175725C>A | CA400861639 | KCNJ2 | c.686C>A (p.Ala229Glu) | |
17 | g.70175725C>G | CA400861641 | KCNJ2 | c.686C>G (p.Ala229Gly) | |
17 | g.70175725C>T | CA400861643 | KCNJ2 | c.686C>T (p.Ala229Val) | |
17 | g.70175726A= | CA2272996666 | KCNJ2 | c.687A= (p.Ala229=) | |
17 | g.70175726A>C | CA501700832 | KCNJ2 | c.687A>C (p.Ala229=) | |
17 | g.70175726A>G | CA501700830 | KCNJ2 | c.687A>G (p.Ala229=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175726A>T | CA501700831 | KCNJ2 | c.687A>T (p.Ala229=) | |
17 | g.70175727C>A | CA400861648 | KCNJ2 | c.688C>A (p.Gln230Lys) | |
17 | g.70175727C>G | CA400861650 | KCNJ2 | c.688C>G (p.Gln230Glu) | |
17 | g.70175727C>T | CA400861645 | KCNJ2 | c.688C>T (p.Gln230Ter) | |
17 | g.70175728A>C | CA400861652 | KCNJ2 | c.689A>C (p.Gln230Pro) | |
17 | g.70175728A>G | CA400861654 | KCNJ2 | c.689A>G (p.Gln230Arg) | |
17 | g.70175728A>T | CA400861656 | KCNJ2 | c.689A>T (p.Gln230Leu) | |
17 | g.70175729G>A | CA501700833 | KCNJ2 | c.690G>A (p.Gln230=) | ClinVar dbSNP |
17 | g.70175729G>C | CA400861658 | KCNJ2 | c.690G>C (p.Gln230His) | |
17 | g.70175729G= | CA2272996667 | KCNJ2 | c.690G= (p.Gln230=) | |
17 | g.70175729G>T | CA400861659 | KCNJ2 | c.690G>T (p.Gln230His) | |
17 | g.70175730C>A | CA400861665 | KCNJ2 | c.691C>A (p.Leu231Ile) | dbSNP |
17 | g.70175730C= | CA2272996668 | KCNJ2 | c.691C= (p.Leu231=) | |
17 | g.70175730C>G | CA400861664 | KCNJ2 | c.691C>G (p.Leu231Val) | |
17 | g.70175730C>T | CA400861662 | KCNJ2 | c.691C>T (p.Leu231Phe) | gnomAD v4 |
17 | g.70175731T>A | CA400861667 | KCNJ2 | c.692T>A (p.Leu231His) | |
17 | g.70175731T>C | CA400861669 | KCNJ2 | c.692T>C (p.Leu231Pro) | |
17 | g.70175731T>G | CA400861671 | KCNJ2 | c.692T>G (p.Leu231Arg) | |
17 | g.70175732C>A | CA501700836 | KCNJ2 | c.693C>A (p.Leu231=) | |
17 | g.70175732C>G | CA501700834 | KCNJ2 | c.693C>G (p.Leu231=) | |
17 | g.70175732C>T | CA501700835 | KCNJ2 | c.693C>T (p.Leu231=) | COSMIC |
17 | g.70175733C>A | CA400861673 | KCNJ2 | c.694C>A (p.Leu232Ile) | |
17 | g.70175733C= | CA2272996669 | KCNJ2 | c.694C= (p.Leu232=) | |
17 | g.70175733C>G | CA400861674 | KCNJ2 | c.694C>G (p.Leu232Val) | |
17 | g.70175733C>T | CA8738758 | KCNJ2 | c.694C>T (p.Leu232Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175734T>A | CA400861677 | KCNJ2 | c.695T>A (p.Leu232His) | gnomAD v4 |
17 | g.70175734T>C | CA400861681 | KCNJ2 | c.695T>C (p.Leu232Pro) | |
17 | g.70175734T>G | CA400861678 | KCNJ2 | c.695T>G (p.Leu232Arg) | |
17 | g.70175735C>A | CA501700837 | KCNJ2 | c.696C>A (p.Leu232=) | |
17 | g.70175735C>G | CA501700838 | KCNJ2 | c.696C>G (p.Leu232=) | |
17 | g.70175735C>T | CA501700839 | KCNJ2 | c.696C>T (p.Leu232=) | ClinVar |
17 | g.70175736A>C | CA400861683 | KCNJ2 | c.697A>C (p.Lys233Gln) | |
17 | g.70175736A>G | CA400861685 | KCNJ2 | c.697A>G (p.Lys233Glu) | gnomAD v4 |
17 | g.70175736A>T | CA400861688 | KCNJ2 | c.697A>T (p.Lys233Ter) | |
17 | g.70175737A>C | CA400861690 | KCNJ2 | c.698A>C (p.Lys233Thr) | |
17 | g.70175737A>G | CA400861692 | KCNJ2 | c.698A>G (p.Lys233Arg) | |
17 | g.70175737A>T | CA400861694 | KCNJ2 | c.698A>T (p.Lys233Ile) | |
17 | g.70175738A>C | CA400861696 | KCNJ2 | c.699A>C (p.Lys233Asn) | |
17 | g.70175738A>G | CA501700840 | KCNJ2 | c.699A>G (p.Lys233=) | ClinVar |
17 | g.70175738A>T | CA400861698 | KCNJ2 | c.699A>T (p.Lys233Asn) | |
17 | g.70175739T>A | CA400861701 | KCNJ2 | c.700T>A (p.Ser234Thr) | |
17 | g.70175739T>C | CA400861703 | KCNJ2 | c.700T>C (p.Ser234Pro) | |
17 | g.70175739T>G | CA400861704 | KCNJ2 | c.700T>G (p.Ser234Ala) | |
17 | g.70175740C>A | CA400861710 | KCNJ2 | c.701C>A (p.Ser234Tyr) | |
17 | g.70175740C>G | CA400861706 | KCNJ2 | c.701C>G (p.Ser234Cys) | |
17 | g.70175740C>T | CA400861708 | KCNJ2 | c.701C>T (p.Ser234Phe) | gnomAD v4 |
17 | g.70175741C>A | CA501700841 | KCNJ2 | c.702C>A (p.Ser234=) | |
17 | g.70175741C>G | CA501700842 | KCNJ2 | c.702C>G (p.Ser234=) | |
17 | g.70175741C>T | CA501700843 | KCNJ2 | c.702C>T (p.Ser234=) | gnomAD v4 |
17 | g.70175742A= | CA2272996670 | KCNJ2 | c.703A= (p.Arg235=) | |
17 | g.70175742A>C | CA501700844 | KCNJ2 | c.703A>C (p.Arg235=) | |
17 | g.70175742A>G | CA400861711 | KCNJ2 | c.703A>G (p.Arg235Gly) | dbSNP |
17 | g.70175742A>T | CA400861713 | KCNJ2 | c.703A>T (p.Arg235Ter) | |
17 | g.70175743G>A | CA400861714 | KCNJ2 | c.704G>A (p.Arg235Lys) | |
17 | g.70175743G>C | CA400861718 | KCNJ2 | c.704G>C (p.Arg235Thr) | |
17 | g.70175743G>T | CA400861716 | KCNJ2 | c.704G>T (p.Arg235Ile) | |
17 | g.70175744A>C | CA400861719 | KCNJ2 | c.705A>C (p.Arg235Ser) | |
17 | g.70175744A>G | CA501700845 | KCNJ2 | c.705A>G (p.Arg235=) | |
17 | g.70175744A>T | CA400861721 | KCNJ2 | c.705A>T (p.Arg235Ser) | |
17 | g.70175745A>C | CA400861723 | KCNJ2 | c.706A>C (p.Ile236Leu) | ClinVar gnomAD v4 |
17 | g.70175745A>G | CA400861725 | KCNJ2 | c.706A>G (p.Ile236Val) | |
17 | g.70175745A>T | CA400861727 | KCNJ2 | c.706A>T (p.Ile236Phe) | |
17 | g.70175746T>A | CA400861730 | KCNJ2 | c.707T>A (p.Ile236Asn) | |
17 | g.70175746T>C | CA400861731 | KCNJ2 | c.707T>C (p.Ile236Thr) | |
17 | g.70175746T>G | CA400861733 | KCNJ2 | c.707T>G (p.Ile236Ser) | |
17 | g.70175747T>A | CA501700846 | KCNJ2 | c.708T>A (p.Ile236=) | |
17 | g.70175747T>C | CA501700847 | KCNJ2 | c.708T>C (p.Ile236=) | |
17 | g.70175747T>G | CA400861735 | KCNJ2 | c.708T>G (p.Ile236Met) | |
17 | g.70175748A>C | CA400861737 | KCNJ2 | c.709A>C (p.Thr237Pro) | |
17 | g.70175748A>G | CA400861738 | KCNJ2 | c.709A>G (p.Thr237Ala) | |
17 | g.70175748A>T | CA400861740 | KCNJ2 | c.709A>T (p.Thr237Ser) | |
17 | g.70175749C>A | CA400861745 | KCNJ2 | c.710C>A (p.Thr237Asn) | |
17 | g.70175749C= | CA2272996671 | KCNJ2 | c.710C= (p.Thr237=) | |
17 | g.70175749C>G | CA400861743 | KCNJ2 | c.710C>G (p.Thr237Ser) | |
17 | g.70175749C>T | CA8738759 | KCNJ2 | c.710C>T (p.Thr237Ile) | dbSNP ExAC gnomAD v2 |
17 | g.70175750T>A | CA501700848 | KCNJ2 | c.711T>A (p.Thr237=) | |
17 | g.70175750T>C | CA501700849 | KCNJ2 | c.711T>C (p.Thr237=) | gnomAD v4 |
17 | g.70175750T>G | CA501700850 | KCNJ2 | c.711T>G (p.Thr237=) | |
17 | g.70175751T>A | CA400861748 | KCNJ2 | c.712T>A (p.Ser238Thr) | |
17 | g.70175751T>C | CA400861749 | KCNJ2 | c.712T>C (p.Ser238Pro) | |
17 | g.70175751T>G | CA400861752 | KCNJ2 | c.712T>G (p.Ser238Ala) | |
17 | g.70175752C>A | CA400861754 | KCNJ2 | c.713C>A (p.Ser238Tyr) | |
17 | g.70175752C>G | CA400861756 | KCNJ2 | c.713C>G (p.Ser238Cys) | |
17 | g.70175752C>T | CA400861758 | KCNJ2 | c.713C>T (p.Ser238Phe) | |
17 | g.70175753T>A | CA501700851 | KCNJ2 | c.714T>A (p.Ser238=) | |
17 | g.70175753T>C | CA501700853 | KCNJ2 | c.714T>C (p.Ser238=) | gnomAD v4 |
17 | g.70175753T>G | CA501700852 | KCNJ2 | c.714T>G (p.Ser238=) | |
17 | g.70175754G>A | CA400861759 | KCNJ2 | c.715G>A (p.Glu239Lys) | |
17 | g.70175754G>C | CA400861762 | KCNJ2 | c.715G>C (p.Glu239Gln) | |
17 | g.70175754G= | CA2272996672 | KCNJ2 | c.715G= (p.Glu239=) | |
17 | g.70175754G>T | CA400861763 | KCNJ2 | c.715G>T (p.Glu239Ter) | ClinVar dbSNP gnomAD v4 |
17 | g.70175755A>C | CA400861766 | KCNJ2 | c.716A>C (p.Glu239Ala) | |
17 | g.70175755A>G | CA400861767 | KCNJ2 | c.716A>G (p.Glu239Gly) | gnomAD v4 |
17 | g.70175755A>T | CA400861769 | KCNJ2 | c.716A>T (p.Glu239Val) | |
17 | g.70175756A= | CA2272996673 | KCNJ2 | c.717A= (p.Glu239=) | |
17 | g.70175756A>C | CA400861771 | KCNJ2 | c.717A>C (p.Glu239Asp) | |
17 | g.70175756A>G | CA501700854 | KCNJ2 | c.717A>G (p.Glu239=) | |
17 | g.70175756A>T | CA293702922 | KCNJ2 | c.717A>T (p.Glu239Asp) | dbSNP |
17 | g.70175756_70175757delinsAG | CA2272996674 | KCNJ2 | c.717_718delinsAG (p.Glu239=) | |
17 | g.70175757G>A | CA400861775 | KCNJ2 | c.718G>A (p.Gly240Arg) | COSMIC |
17 | g.70175757G>C | CA400861777 | KCNJ2 | c.718G>C (p.Gly240Arg) | |
17 | g.70175757G>T | CA400861778 | KCNJ2 | c.718G>T (p.Gly240Trp) | |
17 | g.70175760del | CA1139665861 | KCNJ2 | c.721del (p.Glu241SerfsTer8) | ClinVar dbSNP |
17 | g.70175758G>A | CA400861781 | KCNJ2 | c.719G>A (p.Gly240Glu) | |
17 | g.70175758G>C | CA400861783 | KCNJ2 | c.719G>C (p.Gly240Ala) | |
17 | g.70175758G>T | CA400861785 | KCNJ2 | c.719G>T (p.Gly240Val) | |
17 | g.70175759G>A | CA501700858 | KCNJ2 | c.720G>A (p.Gly240=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175759G>C | CA501700859 | KCNJ2 | c.720G>C (p.Gly240=) | |
17 | g.70175759G= | CA2272996675 | KCNJ2 | c.720G= (p.Gly240=) | |
17 | g.70175759G>T | CA501700860 | KCNJ2 | c.720G>T (p.Gly240=) | |
17 | g.70175760G>A | CA400861790 | KCNJ2 | c.721G>A (p.Glu241Lys) | ClinVar |
17 | g.70175760G>C | CA400861786 | KCNJ2 | c.721G>C (p.Glu241Gln) | |
17 | g.70175760G>T | CA400861788 | KCNJ2 | c.721G>T (p.Glu241Ter) | |
17 | g.70175761_70175762insTATACTCCAGAGA | CA2576374382 | KCNJ2 | c.722_723insTATACTCCAGAGA (p.Glu241AspfsTer19) | |
17 | g.70175761A>C | CA400861792 | KCNJ2 | c.722A>C (p.Glu241Ala) | |
17 | g.70175761A>G | CA400861794 | KCNJ2 | c.722A>G (p.Glu241Gly) | |
17 | g.70175761A>T | CA400861796 | KCNJ2 | c.722A>T (p.Glu241Val) | |
17 | g.70175762G>A | CA501700862 | KCNJ2 | c.723G>A (p.Glu241=) | ClinVar dbSNP |
17 | g.70175762G>C | CA400861798 | KCNJ2 | c.723G>C (p.Glu241Asp) | |
17 | g.70175762G= | CA2272996676 | KCNJ2 | c.723G= (p.Glu241=) | |
17 | g.70175762G>T | CA400861800 | KCNJ2 | c.723G>T (p.Glu241Asp) | COSMIC |
17 | g.70175763T>A | CA400861802 | KCNJ2 | c.724T>A (p.Tyr242Asn) | |
17 | g.70175763T>C | CA400861806 | KCNJ2 | c.724T>C (p.Tyr242His) | |
17 | g.70175763T>G | CA400861804 | KCNJ2 | c.724T>G (p.Tyr242Asp) | |
17 | g.70175764A>C | CA400861808 | KCNJ2 | c.725A>C (p.Tyr242Ser) | |
17 | g.70175764A>G | CA400861810 | KCNJ2 | c.725A>G (p.Tyr242Cys) | |
17 | g.70175764A>T | CA400861812 | KCNJ2 | c.725A>T (p.Tyr242Phe) | |
17 | g.70175765T>A | CA400861814 | KCNJ2 | c.726T>A (p.Tyr242Ter) | |
17 | g.70175765T>C | CA8738760 | KCNJ2 | c.726T>C (p.Tyr242=) | dbSNP ExAC gnomAD v2 |
17 | g.70175765T>G | CA400861817 | KCNJ2 | c.726T>G (p.Tyr242Ter) | |
17 | g.70175765T= | CA2272996677 | KCNJ2 | c.726T= (p.Tyr242=) | |
17 | g.70175766A>C | CA400861819 | KCNJ2 | c.727A>C (p.Ile243Leu) | |
17 | g.70175766A>G | CA400861822 | KCNJ2 | c.727A>G (p.Ile243Val) | |
17 | g.70175766A>T | CA400861824 | KCNJ2 | c.727A>T (p.Ile243Phe) | |
17 | g.70175767T>A | CA400861826 | KCNJ2 | c.728T>A (p.Ile243Asn) | gnomAD v4 |
17 | g.70175767T>C | CA400861828 | KCNJ2 | c.728T>C (p.Ile243Thr) | |
17 | g.70175767T>G | CA400861830 | KCNJ2 | c.728T>G (p.Ile243Ser) | |
17 | g.70175768C>A | CA8738761 | KCNJ2 | c.729C>A (p.Ile243=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175768C= | CA2272996678 | KCNJ2 | c.729C= (p.Ile243=) | |
17 | g.70175768C>G | CA400861834 | KCNJ2 | c.729C>G (p.Ile243Met) | |
17 | g.70175768C>T | CA501700867 | KCNJ2 | c.729C>T (p.Ile243=) | |
17 | g.70175769C>A | CA400861836 | KCNJ2 | c.730C>A (p.Pro244Thr) | |
17 | g.70175769C>G | CA400861840 | KCNJ2 | c.730C>G (p.Pro244Ala) | |
17 | g.70175769C>T | CA400861838 | KCNJ2 | c.730C>T (p.Pro244Ser) | gnomAD v4 |
17 | g.70175770C>A | CA400861841 | KCNJ2 | c.731C>A (p.Pro244His) | |
17 | g.70175770C>G | CA400861844 | KCNJ2 | c.731C>G (p.Pro244Arg) | |
17 | g.70175770C>T | CA400861846 | KCNJ2 | c.731C>T (p.Pro244Leu) | COSMIC |
17 | g.70175771T>A | CA501700869 | KCNJ2 | c.732T>A (p.Pro244=) | |
17 | g.70175771T>C | CA501700870 | KCNJ2 | c.732T>C (p.Pro244=) | |
17 | g.70175771T>G | CA501700871 | KCNJ2 | c.732T>G (p.Pro244=) | |
17 | g.70175772C>A | CA400861848 | KCNJ2 | c.733C>A (p.Leu245Met) | |
17 | g.70175772C= | CA2272996679 | KCNJ2 | c.733C= (p.Leu245=) | |
17 | g.70175772C>G | CA400861849 | KCNJ2 | c.733C>G (p.Leu245Val) | dbSNP |
17 | g.70175772C>T | CA501700875 | KCNJ2 | c.733C>T (p.Leu245=) | |
17 | g.70175773T>A | CA400861851 | KCNJ2 | c.734T>A (p.Leu245Gln) | |
17 | g.70175773T>C | CA400861853 | KCNJ2 | c.734T>C (p.Leu245Pro) | |
17 | g.70175773T>G | CA400861854 | KCNJ2 | c.734T>G (p.Leu245Arg) | |
17 | g.70175774G>A | CA501700878 | KCNJ2 | c.735G>A (p.Leu245=) | |
17 | g.70175774G>C | CA501700877 | KCNJ2 | c.735G>C (p.Leu245=) | |
17 | g.70175774G>T | CA501700876 | KCNJ2 | c.735G>T (p.Leu245=) | |
17 | g.70175775G>A | CA400861856 | KCNJ2 | c.736G>A (p.Asp246Asn) | |
17 | g.70175775G>C | CA400861858 | KCNJ2 | c.736G>C (p.Asp246His) | |
17 | g.70175775G= | CA2272996680 | KCNJ2 | c.736G= (p.Asp246=) | |
17 | g.70175775G>T | CA8738762 | KCNJ2 | c.736G>T (p.Asp246Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175776A>C | CA400861862 | KCNJ2 | c.737A>C (p.Asp246Ala) | |
17 | g.70175776A>G | CA400861863 | KCNJ2 | c.737A>G (p.Asp246Gly) | gnomAD v4 |
17 | g.70175776A>T | CA400861866 | KCNJ2 | c.737A>T (p.Asp246Val) | |
17 | g.70175777T>A | CA400861868 | KCNJ2 | c.738T>A (p.Asp246Glu) | |
17 | g.70175777T>C | CA501700882 | KCNJ2 | c.738T>C (p.Asp246=) | |
17 | g.70175777T>G | CA400861870 | KCNJ2 | c.738T>G (p.Asp246Glu) | |
17 | g.70175778C>A | CA400861873 | KCNJ2 | c.739C>A (p.Gln247Lys) | |
17 | g.70175778C= | CA2272996681 | KCNJ2 | c.739C= (p.Gln247=) | |
17 | g.70175778C>G | CA400861874 | KCNJ2 | c.739C>G (p.Gln247Glu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175778C>T | CA400861876 | KCNJ2 | c.739C>T (p.Gln247Ter) | |
17 | g.70175779A>C | CA400861878 | KCNJ2 | c.740A>C (p.Gln247Pro) | |
17 | g.70175779A>G | CA400861880 | KCNJ2 | c.740A>G (p.Gln247Arg) | |
17 | g.70175779A>T | CA400861882 | KCNJ2 | c.740A>T (p.Gln247Leu) | |
17 | g.70175780A>C | CA400861884 | KCNJ2 | c.741A>C (p.Gln247His) | |
17 | g.70175780A>G | CA501700886 | KCNJ2 | c.741A>G (p.Gln247=) | |
17 | g.70175780A>T | CA400861885 | KCNJ2 | c.741A>T (p.Gln247His) | |
17 | g.70175781A>C | CA400861886 | KCNJ2 | c.742A>C (p.Ile248Leu) | |
17 | g.70175781A>G | CA400861888 | KCNJ2 | c.742A>G (p.Ile248Val) | gnomAD v4 |
17 | g.70175781A>T | CA400861890 | KCNJ2 | c.742A>T (p.Ile248Leu) | |
17 | g.70175782T>A | CA400861897 | KCNJ2 | c.743T>A (p.Ile248Lys) | |
17 | g.70175782T>C | CA400861895 | KCNJ2 | c.743T>C (p.Ile248Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175782T>G | CA400861892 | KCNJ2 | c.743T>G (p.Ile248Arg) | dbSNP |
17 | g.70175782T= | CA2272996682 | KCNJ2 | c.743T= (p.Ile248=) | |
17 | g.70175783A= | CA2272996683 | KCNJ2 | c.744A= (p.Ile248=) | |
17 | g.70175783A>C | CA501700888 | KCNJ2 | c.744A>C (p.Ile248=) | |
17 | g.70175783A>G | CA8738763 | KCNJ2 | c.744A>G (p.Ile248Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175783A>T | CA501700890 | KCNJ2 | c.744A>T (p.Ile248=) | |
17 | g.70175784G>A | CA400861898 | KCNJ2 | c.745G>A (p.Asp249Asn) | dbSNP |
17 | g.70175784G>C | CA400861899 | KCNJ2 | c.745G>C (p.Asp249His) | |
17 | g.70175784G= | CA2272996684 | KCNJ2 | c.745G= (p.Asp249=) | |
17 | g.70175784G>T | CA400861900 | KCNJ2 | c.745G>T (p.Asp249Tyr) | |
17 | g.70175785A>C | CA400861901 | KCNJ2 | c.746A>C (p.Asp249Ala) | |
17 | g.70175785A>G | CA400861902 | KCNJ2 | c.746A>G (p.Asp249Gly) | |
17 | g.70175785A>T | CA400861903 | KCNJ2 | c.746A>T (p.Asp249Val) | |
17 | g.70175786C>A | CA400861904 | KCNJ2 | c.747C>A (p.Asp249Glu) | |
17 | g.70175786C>G | CA400861905 | KCNJ2 | c.747C>G (p.Asp249Glu) | |
17 | g.70175786C>T | CA501700891 | KCNJ2 | c.747C>T (p.Asp249=) | |
17 | g.70175787A>C | CA400861906 | KCNJ2 | c.748A>C (p.Ile250Leu) | |
17 | g.70175787A>G | CA400861907 | KCNJ2 | c.748A>G (p.Ile250Val) | |
17 | g.70175787A>T | CA400861908 | KCNJ2 | c.748A>T (p.Ile250Phe) | |
17 | g.70175788T>A | CA400861910 | KCNJ2 | c.749T>A (p.Ile250Asn) | |
17 | g.70175788T>C | CA400861911 | KCNJ2 | c.749T>C (p.Ile250Thr) | |
17 | g.70175788T>G | CA400861909 | KCNJ2 | c.749T>G (p.Ile250Ser) | |
17 | g.70175789C>A | CA10587906 | KCNJ2 | c.750C>A (p.Ile250=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175789C= | CA2272996685 | KCNJ2 | c.750C= (p.Ile250=) | |
17 | g.70175789C>G | CA400861912 | KCNJ2 | c.750C>G (p.Ile250Met) | |
17 | g.70175789C>T | CA501700894 | KCNJ2 | c.750C>T (p.Ile250=) | |
17 | g.70175790A>C | CA400861913 | KCNJ2 | c.751A>C (p.Asn251His) | |
17 | g.70175790A>G | CA400861914 | KCNJ2 | c.751A>G (p.Asn251Asp) | |
17 | g.70175790A>T | CA400861915 | KCNJ2 | c.751A>T (p.Asn251Tyr) | |
17 | g.70175791A= | CA2272996686 | KCNJ2 | c.752A= (p.Asn251=) | |
17 | g.70175791A>C | CA400861922 | KCNJ2 | c.752A>C (p.Asn251Thr) | |
17 | g.70175791A>G | CA400861918 | KCNJ2 | c.752A>G (p.Asn251Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175791A>T | CA400861919 | KCNJ2 | c.752A>T (p.Asn251Ile) | |
17 | g.70175792T>A | CA400861923 | KCNJ2 | c.753T>A (p.Asn251Lys) | |
17 | g.70175792T>C | CA501700899 | KCNJ2 | c.753T>C (p.Asn251=) | dbSNP |
17 | g.70175792T>G | CA400861925 | KCNJ2 | c.753T>G (p.Asn251Lys) | |
17 | g.70175792T= | CA2272996687 | KCNJ2 | c.753T= (p.Asn251=) |