UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.45645487C>A | CA359707669 | HCN1 | c.547G>T (p.Asp183Tyr) | |
| 5 | g.45645487C>G | CA359707670 | HCN1 | c.547G>C (p.Asp183His) | COSMIC |
| 5 | g.45645487C>T | CA359707671 | HCN1 | c.547G>A (p.Asp183Asn) | COSMIC |
| 5 | g.45645488T>A | CA444401393 | HCN1 | c.546A>T (p.Ser182=) | |
| 5 | g.45645488T>C | CA3259433 | HCN1 | c.546A>G (p.Ser182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.45645488T>G | CA444401395 | HCN1 | c.546A>C (p.Ser182=) | |
| 5 | g.45645488T= | CA1543790662 | HCN1 | c.546A= (p.Ser182=) | |
| 5 | g.45645489G>A | CA359707674 | HCN1 | c.545C>T (p.Ser182Leu) | |
| 5 | g.45645489G>C | CA359707673 | HCN1 | c.545C>G (p.Ser182Ter) | |
| 5 | g.45645489G>T | CA359707672 | HCN1 | c.545C>A (p.Ser182Ter) | |
| 5 | g.45645490A>C | CA359707675 | HCN1 | c.544T>G (p.Ser182Ala) | |
| 5 | g.45645490A>G | CA359707676 | HCN1 | c.544T>C (p.Ser182Pro) | |
| 5 | g.45645490A>T | CA359707677 | HCN1 | c.544T>A (p.Ser182Thr) | |
| 5 | g.45645491T>A | CA444401398 | HCN1 | c.543A>T (p.Ala181=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.45645491T>C | CA3259434 | HCN1 | c.543A>G (p.Ala181=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.45645491T>G | CA444401399 | HCN1 | c.543A>C (p.Ala181=) | |
| 5 | g.45645491T= | CA1543790667 | HCN1 | c.543A= (p.Ala181=) | |
| 5 | g.45645492G>A | CA359707678 | HCN1 | c.542C>T (p.Ala181Val) | |
| 5 | g.45645492G>C | CA359707679 | HCN1 | c.542C>G (p.Ala181Gly) | |
| 5 | g.45645492G>T | CA359707680 | HCN1 | c.542C>A (p.Ala181Glu) | |
| 5 | g.45645493C>A | CA359707681 | HCN1 | c.541G>T (p.Ala181Ser) | dbSNP gnomAD v4 COSMIC |
| 5 | g.45645493C= | CA1543790672 | HCN1 | c.541G= (p.Ala181=) | |
| 5 | g.45645493C>G | CA359707682 | HCN1 | c.541G>C (p.Ala181Pro) | |
| 5 | g.45645493C>T | CA359707683 | HCN1 | c.541G>A (p.Ala181Thr) | |
| 5 | g.45645494C>A | CA444401401 | HCN1 | c.540G>T (p.Val180=) | |
| 5 | g.45645494C>G | CA444401403 | HCN1 | c.540G>C (p.Val180=) | |
| 5 | g.45645494C>T | CA444401405 | HCN1 | c.540G>A (p.Val180=) | gnomAD v4 COSMIC |
| 5 | g.45645495A>C | CA359707684 | HCN1 | c.539T>G (p.Val180Gly) | |
| 5 | g.45645495A>G | CA359707685 | HCN1 | c.539T>C (p.Val180Ala) | |
| 5 | g.45645495A>T | CA359707686 | HCN1 | c.539T>A (p.Val180Glu) | |
| 5 | g.45645496C>A | CA359707688 | HCN1 | c.538G>T (p.Val180Leu) | dbSNP |
| 5 | g.45645496C>G | CA359707689 | HCN1 | c.538G>C (p.Val180Leu) | |
| 5 | g.45645496C>T | CA359707687 | HCN1 | c.538G>A (p.Val180Met) | |
| 5 | g.45645497A= | CA1543790679 | HCN1 | c.537T= (p.Asn179=) | |
| 5 | g.45645497A>C | CA359707690 | HCN1 | c.537T>G (p.Asn179Lys) | |
| 5 | g.45645497A>G | CA118324612 | HCN1 | c.537T>C (p.Asn179=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.45645497A>T | CA359707691 | HCN1 | c.537T>A (p.Asn179Lys) | |
| 5 | g.45645498T>A | CA359707692 | HCN1 | c.536A>T (p.Asn179Ile) | |
| 5 | g.45645498T>C | CA359707693 | HCN1 | c.536A>G (p.Asn179Ser) | dbSNP |
| 5 | g.45645498T>G | CA359707694 | HCN1 | c.536A>C (p.Asn179Thr) | |
| 5 | g.45645498T= | CA1543790694 | HCN1 | c.536A= (p.Asn179=) | |
| 5 | g.45645499T>A | CA359707695 | HCN1 | c.535A>T (p.Asn179Tyr) | ClinVar |
| 5 | g.45645499T>C | CA359707696 | HCN1 | c.535A>G (p.Asn179Asp) | |
| 5 | g.45645499T>G | CA359707697 | HCN1 | c.535A>C (p.Asn179His) | |
| 5 | g.45645500G>A | CA444401412 | HCN1 | c.534C>T (p.Phe178=) | |
| 5 | g.45645500G>C | CA359707698 | HCN1 | c.534C>G (p.Phe178Leu) | |
| 5 | g.45645500G>T | CA359707699 | HCN1 | c.534C>A (p.Phe178Leu) | |
| 5 | g.45645501A>C | CA359707700 | HCN1 | c.533T>G (p.Phe178Cys) | |
| 5 | g.45645501A>G | CA359707702 | HCN1 | c.533T>C (p.Phe178Ser) | |
| 5 | g.45645501A>T | CA359707701 | HCN1 | c.533T>A (p.Phe178Tyr) | |
| 5 | g.45645502A>C | CA359707703 | HCN1 | c.532T>G (p.Phe178Val) | |
| 5 | g.45645502A>G | CA359707704 | HCN1 | c.532T>C (p.Phe178Leu) | |
| 5 | g.45645502A>T | CA359707705 | HCN1 | c.532T>A (p.Phe178Ile) | |
| 5 | g.45645503A>C | CA359707706 | HCN1 | c.531T>G (p.Ile177Met) | |
| 5 | g.45645503A>G | CA444401415 | HCN1 | c.531T>C (p.Ile177=) | |
| 5 | g.45645503A>T | CA444401416 | HCN1 | c.531T>A (p.Ile177=) | |
| 5 | g.45645504A>C | CA359707707 | HCN1 | c.530T>G (p.Ile177Ser) | |
| 5 | g.45645504A>G | CA359707709 | HCN1 | c.530T>C (p.Ile177Thr) | ClinVar |
| 5 | g.45645504A>T | CA359707708 | HCN1 | c.530T>A (p.Ile177Asn) | |
| 5 | g.45645505T>A | CA359707710 | HCN1 | c.529A>T (p.Ile177Phe) | |
| 5 | g.45645505T>C | CA359707711 | HCN1 | c.529A>G (p.Ile177Val) | |
| 5 | g.45645505T>G | CA359707712 | HCN1 | c.529A>C (p.Ile177Leu) | |
| 5 | g.45645506A= | CA1543790702 | HCN1 | c.528T= (p.Ile176=) | |
| 5 | g.45645506A>C | CA359707713 | HCN1 | c.528T>G (p.Ile176Met) | |
| 5 | g.45645506A>G | CA232345 | HCN1 | c.528T>C (p.Ile176=) | ClinVar dbSNP |
| 5 | g.45645506A>T | CA444401421 | HCN1 | c.528T>A (p.Ile176=) | |
| 5 | g.45645507A>C | CA359707714 | HCN1 | c.527T>G (p.Ile176Ser) | |
| 5 | g.45645507A>G | CA359707715 | HCN1 | c.527T>C (p.Ile176Thr) | |
| 5 | g.45645507A>T | CA359707716 | HCN1 | c.527T>A (p.Ile176Asn) | |
| 5 | g.45645508T>A | CA359707717 | HCN1 | c.526A>T (p.Ile176Phe) | |
| 5 | g.45645508T>C | CA359707718 | HCN1 | c.526A>G (p.Ile176Val) | COSMIC |
| 5 | g.45645508T>G | CA359707719 | HCN1 | c.526A>C (p.Ile176Leu) | |
| 5 | g.45645509C>A | CA359707720 | HCN1 | c.525G>T (p.Trp175Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.45645509C= | CA1543790712 | HCN1 | c.525G= (p.Trp175=) | |
| 5 | g.45645509C>G | CA359707722 | HCN1 | c.525G>C (p.Trp175Cys) | |
| 5 | g.45645509C>T | CA359707721 | HCN1 | c.525G>A (p.Trp175Ter) | COSMIC |
| 5 | g.45645510C>A | CA359707723 | HCN1 | c.524G>T (p.Trp175Leu) | |
| 5 | g.45645510C>G | CA359707724 | HCN1 | c.524G>C (p.Trp175Ser) | |
| 5 | g.45645510C>T | CA359707725 | HCN1 | c.524G>A (p.Trp175Ter) | COSMIC |
| 5 | g.45645511A>C | CA359707726 | HCN1 | c.523T>G (p.Trp175Gly) | |
| 5 | g.45645511A>G | CA359707727 | HCN1 | c.523T>C (p.Trp175Arg) | ClinVar |
| 5 | g.45645511A>T | CA359707728 | HCN1 | c.523T>A (p.Trp175Arg) | |
| 5 | g.45645512T>A | CA444401428 | HCN1 | c.522A>T (p.Pro174=) | |
| 5 | g.45645512T>C | CA444401429 | HCN1 | c.522A>G (p.Pro174=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.45645512T>G | CA444401430 | HCN1 | c.522A>C (p.Pro174=) | |
| 5 | g.45645512T= | CA1543790717 | HCN1 | c.522A= (p.Pro174=) | |
| 5 | g.45645513G>A | CA359707729 | HCN1 | c.521C>T (p.Pro174Leu) | gnomAD v4 |
| 5 | g.45645513G>C | CA359707730 | HCN1 | c.521C>G (p.Pro174Arg) | |
| 5 | g.45645513G>T | CA359707731 | HCN1 | c.521C>A (p.Pro174Gln) | |
| 5 | g.45645514G>A | CA359707732 | HCN1 | c.520C>T (p.Pro174Ser) | gnomAD v4 COSMIC |
| 5 | g.45645514G>C | CA359707733 | HCN1 | c.520C>G (p.Pro174Ala) | |
| 5 | g.45645514G>T | CA359707734 | HCN1 | c.520C>A (p.Pro174Thr) | gnomAD v4 |
| 5 | g.45645515T>A | CA118324613 | HCN1 | c.519A>T (p.Thr173=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.45645515T>C | CA444401434 | HCN1 | c.519A>G (p.Thr173=) | |
| 5 | g.45645515T>G | CA444401435 | HCN1 | c.519A>C (p.Thr173=) | |
| 5 | g.45645515T= | CA1543790723 | HCN1 | c.519A= (p.Thr173=) | |
| 5 | g.45645522_45645524del | CA2578305118 | HCN1 | c.517_519del (p.Thr173del) | |
| 5 | g.45645516G>A | CA359707737 | HCN1 | c.518C>T (p.Thr173Ile) | |
| 5 | g.45645516G>C | CA359707735 | HCN1 | c.518C>G (p.Thr173Arg) | |
| 5 | g.45645516G>T | CA359707736 | HCN1 | c.518C>A (p.Thr173Lys) | gnomAD v4 |
| 5 | g.45645517T>A | CA359707738 | HCN1 | c.517A>T (p.Thr173Ser) | |
| 5 | g.45645517T>C | CA359707739 | HCN1 | c.517A>G (p.Thr173Ala) | dbSNP |
| 5 | g.45645517T>G | CA359707740 | HCN1 | c.517A>C (p.Thr173Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.45645517T= | CA1543790726 | HCN1 | c.517A= (p.Thr173=) | |
| 5 | g.45645518T>A | CA444401438 | HCN1 | c.516A>T (p.Thr172=) | |
| 5 | g.45645518T>C | CA444401439 | HCN1 | c.516A>G (p.Thr172=) | |
| 5 | g.45645518T>G | CA444401440 | HCN1 | c.516A>C (p.Thr172=) | |
| 5 | g.45645519G>A | CA359707741 | HCN1 | c.515C>T (p.Thr172Ile) | |
| 5 | g.45645519G>C | CA359707742 | HCN1 | c.515C>G (p.Thr172Arg) | |
| 5 | g.45645519G>T | CA359707743 | HCN1 | c.515C>A (p.Thr172Lys) | gnomAD v4 |
| 5 | g.45645520T>A | CA359707744 | HCN1 | c.514A>T (p.Thr172Ser) | |
| 5 | g.45645520T>C | CA359707745 | HCN1 | c.514A>G (p.Thr172Ala) | dbSNP gnomAD v4 |
| 5 | g.45645520T>G | CA359707746 | HCN1 | c.514A>C (p.Thr172Pro) | |
| 5 | g.45645520T= | CA1543790729 | HCN1 | c.514A= (p.Thr172=) | |
| 5 | g.45645521T>A | CA444401443 | HCN1 | c.513A>T (p.Thr171=) | |
| 5 | g.45645521T>C | CA444401444 | HCN1 | c.513A>G (p.Thr171=) | |
| 5 | g.45645521T>G | CA444401445 | HCN1 | c.513A>C (p.Thr171=) | |
| 5 | g.45645522G>A | CA359707747 | HCN1 | c.512C>T (p.Thr171Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.45645522G>C | CA359707748 | HCN1 | c.512C>G (p.Thr171Arg) | |
| 5 | g.45645522G= | CA1543790733 | HCN1 | c.512C= (p.Thr171=) | |
| 5 | g.45645522G>T | CA359707749 | HCN1 | c.512C>A (p.Thr171Lys) | |
| 5 | g.45645523T>A | CA359707752 | HCN1 | c.511A>T (p.Thr171Ser) | |
| 5 | g.45645523T>C | CA359707751 | HCN1 | c.511A>G (p.Thr171Ala) | |
| 5 | g.45645523T>G | CA359707750 | HCN1 | c.511A>C (p.Thr171Pro) | |
| 5 | g.45645524T>A | CA359707754 | HCN1 | c.510A>T (p.Gln170His) | |
| 5 | g.45645524T>C | CA444401446 | HCN1 | c.510A>G (p.Gln170=) | dbSNP gnomAD v4 |
| 5 | g.45645524T>G | CA359707753 | HCN1 | c.510A>C (p.Gln170His) | |
| 5 | g.45645524T= | CA1543790740 | HCN1 | c.510A= (p.Gln170=) | |
| 5 | g.45645525T>A | CA359707757 | HCN1 | c.509A>T (p.Gln170Leu) | |
| 5 | g.45645525T>C | CA359707755 | HCN1 | c.509A>G (p.Gln170Arg) | |
| 5 | g.45645525T>G | CA359707756 | HCN1 | c.509A>C (p.Gln170Pro) | |
| 5 | g.45645526G>A | CA359707758 | HCN1 | c.508C>T (p.Gln170Ter) | |
| 5 | g.45645526G>C | CA359707759 | HCN1 | c.508C>G (p.Gln170Glu) | |
| 5 | g.45645526G>T | CA359707760 | HCN1 | c.508C>A (p.Gln170Lys) | ClinVar gnomAD v4 |
| 5 | g.45645527C>A | CA359707761 | HCN1 | c.507G>T (p.Glu169Asp) | |
| 5 | g.45645527C>G | CA359707762 | HCN1 | c.507G>C (p.Glu169Asp) | |
| 5 | g.45645527C>T | CA444401447 | HCN1 | c.507G>A (p.Glu169=) | |
| 5 | g.45645528T>A | CA359707763 | HCN1 | c.506A>T (p.Glu169Val) | |
| 5 | g.45645528T>C | CA359707764 | HCN1 | c.506A>G (p.Glu169Gly) | COSMIC |
| 5 | g.45645528T>G | CA359707765 | HCN1 | c.506A>C (p.Glu169Ala) | |
| 5 | g.45645529C>A | CA359707766 | HCN1 | c.505G>T (p.Glu169Ter) | |
| 5 | g.45645529C>G | CA359707767 | HCN1 | c.505G>C (p.Glu169Gln) | |
| 5 | g.45645529C>T | CA359707768 | HCN1 | c.505G>A (p.Glu169Lys) | COSMIC |
| 5 | g.45645530T>A | CA444401448 | HCN1 | c.504A>T (p.Thr168=) | |
| 5 | g.45645530T>C | CA444401450 | HCN1 | c.504A>G (p.Thr168=) | |
| 5 | g.45645530T>G | CA444401449 | HCN1 | c.504A>C (p.Thr168=) | dbSNP |
| 5 | g.45645531G>A | CA359707769 | HCN1 | c.503C>T (p.Thr168Ile) | |
| 5 | g.45645531G>C | CA359707771 | HCN1 | c.503C>G (p.Thr168Arg) | |
| 5 | g.45645531G>T | CA359707770 | HCN1 | c.503C>A (p.Thr168Lys) | gnomAD v4 |
| 5 | g.45645532T>A | CA359707772 | HCN1 | c.502A>T (p.Thr168Ser) | |
| 5 | g.45645532T>C | CA359707773 | HCN1 | c.502A>G (p.Thr168Ala) | gnomAD v4 |
| 5 | g.45645532T>G | CA359707774 | HCN1 | c.502A>C (p.Thr168Pro) | |
| 5 | g.45645533A>C | CA359707775 | HCN1 | c.501T>G (p.Phe167Leu) | |
| 5 | g.45645533A>G | CA444401453 | HCN1 | c.501T>C (p.Phe167=) | |
| 5 | g.45645533A>T | CA359707776 | HCN1 | c.501T>A (p.Phe167Leu) | |
| 5 | g.45645534A>C | CA359707777 | HCN1 | c.500T>G (p.Phe167Cys) | |
| 5 | g.45645534A>G | CA359707778 | HCN1 | c.500T>C (p.Phe167Ser) | |
| 5 | g.45645534A>T | CA359707779 | HCN1 | c.500T>A (p.Phe167Tyr) | |
| 5 | g.45645535A>C | CA359707780 | HCN1 | c.499T>G (p.Phe167Val) | |
| 5 | g.45645535A>G | CA359707781 | HCN1 | c.499T>C (p.Phe167Leu) | |
| 5 | g.45645535A>T | CA359707782 | HCN1 | c.499T>A (p.Phe167Ile) | |
| 5 | g.45645536G>A | CA444401460 | HCN1 | c.498C>T (p.Phe166=) | |
| 5 | g.45645536G>C | CA359707784 | HCN1 | c.498C>G (p.Phe166Leu) | |
| 5 | g.45645536G>T | CA359707783 | HCN1 | c.498C>A (p.Phe166Leu) | |
| 5 | g.45645537A>C | CA359707785 | HCN1 | c.497T>G (p.Phe166Cys) | |
| 5 | g.45645537A>G | CA359707786 | HCN1 | c.497T>C (p.Phe166Ser) | |
| 5 | g.45645537A>T | CA359707787 | HCN1 | c.497T>A (p.Phe166Tyr) | |
| 5 | g.45645538A>C | CA359707788 | HCN1 | c.496T>G (p.Phe166Val) | |
| 5 | g.45645538A>G | CA359707789 | HCN1 | c.496T>C (p.Phe166Leu) | |
| 5 | g.45645538A>T | CA359707790 | HCN1 | c.496T>A (p.Phe166Ile) | |
| 5 | g.45645539T>A | CA444401463 | HCN1 | c.495A>T (p.Thr165=) | |
| 5 | g.45645539T>C | CA3259435 | HCN1 | c.495A>G (p.Thr165=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.45645539T>G | CA444401464 | HCN1 | c.495A>C (p.Thr165=) | |
| 5 | g.45645539T= | CA1543790743 | HCN1 | c.495A= (p.Thr165=) | |
| 5 | g.45645540G>A | CA118324614 | HCN1 | c.494C>T (p.Thr165Ile) | dbSNP gnomAD v2 |
| 5 | g.45645540G>C | CA359707791 | HCN1 | c.494C>G (p.Thr165Arg) | |
| 5 | g.45645540G= | CA1543790746 | HCN1 | c.494C= (p.Thr165=) | |
| 5 | g.45645540G>T | CA359707792 | HCN1 | c.494C>A (p.Thr165Lys) | |
| 5 | g.45645541T>A | CA359707793 | HCN1 | c.493A>T (p.Thr165Ser) | |
| 5 | g.45645541T>C | CA359707794 | HCN1 | c.493A>G (p.Thr165Ala) | |
| 5 | g.45645541T>G | CA359707795 | HCN1 | c.493A>C (p.Thr165Pro) | |
| 5 | g.45645542G>A | CA444401469 | HCN1 | c.492C>T (p.Ile164=) | |
| 5 | g.45645542G>C | CA359707796 | HCN1 | c.492C>G (p.Ile164Met) | |
| 5 | g.45645542G= | CA1543790749 | HCN1 | c.492C= (p.Ile164=) | |
| 5 | g.45645542G>T | CA3259436 | HCN1 | c.492C>A (p.Ile164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.45645543A= | CA1543790750 | HCN1 | c.491T= (p.Ile164=) | |
| 5 | g.45645543A>C | CA359707797 | HCN1 | c.491T>G (p.Ile164Ser) | |
| 5 | g.45645543A>G | CA359707799 | HCN1 | c.491T>C (p.Ile164Thr) | |
| 5 | g.45645543A>T | CA359707798 | HCN1 | c.491T>A (p.Ile164Asn) | dbSNP |
| 5 | g.45645544T>A | CA359707800 | HCN1 | c.490A>T (p.Ile164Phe) | |
| 5 | g.45645544T>C | CA359707801 | HCN1 | c.490A>G (p.Ile164Val) | |
| 5 | g.45645544T>G | CA359707802 | HCN1 | c.490A>C (p.Ile164Leu) | |
| 5 | g.45645545T>A | CA444401472 | HCN1 | c.489A>T (p.Gly163=) | |
| 5 | g.45645545T>C | CA444401473 | HCN1 | c.489A>G (p.Gly163=) | dbSNP gnomAD v4 |
| 5 | g.45645545T>G | CA444401474 | HCN1 | c.489A>C (p.Gly163=) | |
| 5 | g.45645545T= | CA1543790753 | HCN1 | c.489A= (p.Gly163=) | |
| 5 | g.45645546C>A | CA359707803 | HCN1 | c.488G>T (p.Gly163Val) | ClinVar dbSNP |
| 5 | g.45645546C= | CA1543790757 | HCN1 | c.488G= (p.Gly163=) | |
| 5 | g.45645546C>G | CA359707804 | HCN1 | c.488G>C (p.Gly163Ala) | COSMIC |
| 5 | g.45645546C>T | CA359707805 | HCN1 | c.488G>A (p.Gly163Glu) | ClinVar dbSNP gnomAD v4 |
| 5 | g.45645547C>A | CA359707806 | HCN1 | c.487G>T (p.Gly163Ter) | |
| 5 | g.45645547C>G | CA359707807 | HCN1 | c.487G>C (p.Gly163Arg) | |
| 5 | g.45645547C>T | CA359707808 | HCN1 | c.487G>A (p.Gly163Arg) | |
| 5 | g.45645548A>C | CA444401481 | HCN1 | c.486T>G (p.Val162=) | |
| 5 | g.45645548A>G | CA444401482 | HCN1 | c.486T>C (p.Val162=) | |
| 5 | g.45645548A>T | CA444401483 | HCN1 | c.486T>A (p.Val162=) | COSMIC |
| 5 | g.45645549A>C | CA359707809 | HCN1 | c.485T>G (p.Val162Gly) | |
| 5 | g.45645549A>G | CA359707810 | HCN1 | c.485T>C (p.Val162Ala) | |
| 5 | g.45645549A>T | CA359707811 | HCN1 | c.485T>A (p.Val162Asp) | |
| 5 | g.45645550C>A | CA359707814 | HCN1 | c.484G>T (p.Val162Phe) | dbSNP gnomAD v2 |
| 5 | g.45645550C= | CA1543790773 | HCN1 | c.484G= (p.Val162=) | |
| 5 | g.45645550C>G | CA359707813 | HCN1 | c.484G>C (p.Val162Leu) | ClinVar |
| 5 | g.45645550C>T | CA359707812 | HCN1 | c.484G>A (p.Val162Ile) | |
| 5 | g.45645551T>A | CA444401489 | HCN1 | c.483A>T (p.Pro161=) | |
| 5 | g.45645551T>C | CA444401488 | HCN1 | c.483A>G (p.Pro161=) | gnomAD v4 |
| 5 | g.45645551T>G | CA444401487 | HCN1 | c.483A>C (p.Pro161=) | gnomAD v4 |
| 5 | g.45645552G>A | CA359707815 | HCN1 | c.482C>T (p.Pro161Leu) | |
| 5 | g.45645552G>C | CA359707817 | HCN1 | c.482C>G (p.Pro161Arg) | |
| 5 | g.45645552G= | CA1543790774 | HCN1 | c.482C= (p.Pro161=) | |
| 5 | g.45645552G>T | CA359707816 | HCN1 | c.482C>A (p.Pro161Gln) | dbSNP gnomAD v4 |
| 5 | g.45645553G>A | CA359707818 | HCN1 | c.481C>T (p.Pro161Ser) | |
| 5 | g.45645553G>C | CA359707819 | HCN1 | c.481C>G (p.Pro161Ala) | COSMIC |
| 5 | g.45645553G>T | CA359707820 | HCN1 | c.481C>A (p.Pro161Thr) | |
| 5 | g.45645554T>A | CA444401491 | HCN1 | c.480A>T (p.Ile160=) | |
| 5 | g.45645554T>C | CA359707821 | HCN1 | c.480A>G (p.Ile160Met) | |
| 5 | g.45645554T>G | CA444401492 | HCN1 | c.480A>C (p.Ile160=) | |
| 5 | g.45645555A>C | CA359707822 | HCN1 | c.479T>G (p.Ile160Arg) | |
| 5 | g.45645555A>G | CA359707823 | HCN1 | c.479T>C (p.Ile160Thr) | |
| 5 | g.45645555A>T | CA359707824 | HCN1 | c.479T>A (p.Ile160Lys) | |
| 5 | g.45645556T>A | CA359707825 | HCN1 | c.478A>T (p.Ile160Leu) | |
| 5 | g.45645556T>C | CA359707827 | HCN1 | c.478A>G (p.Ile160Val) | |
| 5 | g.45645556T>G | CA359707826 | HCN1 | c.478A>C (p.Ile160Leu) | |
| 5 | g.45645557G>A | CA444401497 | HCN1 | c.477C>T (p.Ile159=) | gnomAD v4 |
| 5 | g.45645557G>C | CA359707828 | HCN1 | c.477C>G (p.Ile159Met) | ClinVar dbSNP |
| 5 | g.45645557G= | CA1543790775 | HCN1 | c.477C= (p.Ile159=) | |
| 5 | g.45645557G>T | CA444401498 | HCN1 | c.477C>A (p.Ile159=) | |
| 5 | g.45645558A>C | CA359707829 | HCN1 | c.476T>G (p.Ile159Ser) | |
| 5 | g.45645558A>G | CA359707830 | HCN1 | c.476T>C (p.Ile159Thr) | |
| 5 | g.45645558A>T | CA359707831 | HCN1 | c.476T>A (p.Ile159Asn) | |
| 5 | g.45645559T>A | CA359707832 | HCN1 | c.475A>T (p.Ile159Phe) | ClinVar |
| 5 | g.45645559T>C | CA359707834 | HCN1 | c.475A>G (p.Ile159Val) | dbSNP |
| 5 | g.45645559T>G | CA359707833 | HCN1 | c.475A>C (p.Ile159Leu) | |
| 5 | g.45645559T= | CA1543790778 | HCN1 | c.475A= (p.Ile159=) | |
| 5 | g.45645560G>A | CA444401500 | HCN1 | c.474C>T (p.Val158=) | gnomAD v4 COSMIC |
| 5 | g.45645560G>C | CA444401502 | HCN1 | c.474C>G (p.Val158=) | |
| 5 | g.45645560G>T | CA444401503 | HCN1 | c.474C>A (p.Val158=) | gnomAD v4 |
| 5 | g.45645561A>C | CA359707835 | HCN1 | c.473T>G (p.Val158Gly) | |
| 5 | g.45645561A>G | CA359707836 | HCN1 | c.473T>C (p.Val158Ala) | |
| 5 | g.45645561A>T | CA359707837 | HCN1 | c.473T>A (p.Val158Asp) | |
| 5 | g.45645562C>A | CA359707838 | HCN1 | c.472G>T (p.Val158Phe) | |
| 5 | g.45645562C>G | CA359707839 | HCN1 | c.472G>C (p.Val158Leu) | |
| 5 | g.45645562C>T | CA359707840 | HCN1 | c.472G>A (p.Val158Ile) | |
| 5 | g.45645563T>A | CA444401506 | HCN1 | c.471A>T (p.Leu157=) | |
| 5 | g.45645563T>C | CA444401508 | HCN1 | c.471A>G (p.Leu157=) | |
| 5 | g.45645563T>G | CA444401510 | HCN1 | c.471A>C (p.Leu157=) | |
| 5 | g.45645564A>C | CA359707841 | HCN1 | c.470T>G (p.Leu157Arg) | |
| 5 | g.45645564A>G | CA359707842 | HCN1 | c.470T>C (p.Leu157Pro) | |
| 5 | g.45645564A>T | CA359707843 | HCN1 | c.470T>A (p.Leu157Gln) | |
| 5 | g.45645565G>A | CA444401511 | HCN1 | c.469C>T (p.Leu157=) | |
| 5 | g.45645565G>C | CA359707844 | HCN1 | c.469C>G (p.Leu157Val) | ClinVar dbSNP |
| 5 | g.45645565G= | CA1543790780 | HCN1 | c.469C= (p.Leu157=) | |
| 5 | g.45645565G>T | CA359707845 | HCN1 | c.469C>A (p.Leu157Ile) | ClinVar dbSNP gnomAD v4 |
| 5 | g.45645566A>C | CA359707847 | HCN1 | c.468T>G (p.Asn156Lys) | |
| 5 | g.45645566A>G | CA444401515 | HCN1 | c.468T>C (p.Asn156=) | |
| 5 | g.45645566A>T | CA359707846 | HCN1 | c.468T>A (p.Asn156Lys) | |
| 5 | g.45645567T>A | CA359707848 | HCN1 | c.467A>T (p.Asn156Ile) | |
| 5 | g.45645567T>C | CA359707849 | HCN1 | c.467A>G (p.Asn156Ser) | |
| 5 | g.45645567T>G | CA359707850 | HCN1 | c.467A>C (p.Asn156Thr) | |
| 5 | g.45645568T>A | CA359707851 | HCN1 | c.466A>T (p.Asn156Tyr) | |
| 5 | g.45645568T>C | CA359707852 | HCN1 | c.466A>G (p.Asn156Asp) | |
| 5 | g.45645568T>G | CA359707853 | HCN1 | c.466A>C (p.Asn156His) | |
| 5 | g.45645569T>A | CA444401520 | HCN1 | c.465A>T (p.Gly155=) | |
| 5 | g.45645569T>C | CA444401521 | HCN1 | c.465A>G (p.Gly155=) | |
| 5 | g.45645569T>G | CA444401522 | HCN1 | c.465A>C (p.Gly155=) | |
| 5 | g.45645570C>A | CA359707856 | HCN1 | c.464G>T (p.Gly155Val) | |
| 5 | g.45645570C>G | CA359707855 | HCN1 | c.464G>C (p.Gly155Ala) | |
| 5 | g.45645570C>T | CA359707854 | HCN1 | c.464G>A (p.Gly155Glu) | COSMIC |
| 5 | g.45645571C>A | CA359707857 | HCN1 | c.463G>T (p.Gly155Ter) | |
| 5 | g.45645571C>G | CA359707858 | HCN1 | c.463G>C (p.Gly155Arg) | |
| 5 | g.45645571C>T | CA359707859 | HCN1 | c.463G>A (p.Gly155Arg) | |
| 5 | g.45645572A>C | CA444401527 | HCN1 | c.462T>G (p.Val154=) | |
| 5 | g.45645572A>G | CA444401530 | HCN1 | c.462T>C (p.Val154=) | |
| 5 | g.45645572A>T | CA444401529 | HCN1 | c.462T>A (p.Val154=) | |
| 5 | g.45645573A>C | CA359707860 | HCN1 | c.461T>G (p.Val154Gly) | |
| 5 | g.45645573A>G | CA359707861 | HCN1 | c.461T>C (p.Val154Ala) | COSMIC |
| 5 | g.45645573A>T | CA359707862 | HCN1 | c.461T>A (p.Val154Asp) | |
| 5 | g.45645574C>A | CA359707863 | HCN1 | c.460G>T (p.Val154Phe) | gnomAD v4 |
| 5 | g.45645574C>G | CA359707865 | HCN1 | c.460G>C (p.Val154Leu) | |
| 5 | g.45645574C>T | CA359707864 | HCN1 | c.460G>A (p.Val154Ile) | |
| 5 | g.45645575C>A | CA359707866 | HCN1 | c.459G>T (p.Met153Ile) | ClinVar |
| 5 | g.45645575C= | CA1543790783 | HCN1 | c.459G= (p.Met153=) | |
| 5 | g.45645575C>G | CA16044318 | HCN1 | c.459G>C (p.Met153Ile) | ClinVar dbSNP |
| 5 | g.45645575C>T | CA359707867 | HCN1 | c.459G>A (p.Met153Ile) | |
| 5 | g.45645576A>C | CA359707868 | HCN1 | c.458T>G (p.Met153Arg) | |
| 5 | g.45645576A>G | CA359707869 | HCN1 | c.458T>C (p.Met153Thr) | dbSNP COSMIC |
| 5 | g.45645576A>T | CA359707870 | HCN1 | c.458T>A (p.Met153Lys) | |
| 5 | g.45645577T>A | CA359707871 | HCN1 | c.457A>T (p.Met153Leu) | |
| 5 | g.45645577T>C | CA359707872 | HCN1 | c.457A>G (p.Met153Val) | dbSNP gnomAD v4 |
| 5 | g.45645577T>G | CA359707873 | HCN1 | c.457A>C (p.Met153Leu) | |
| 5 | g.45645577T= | CA1543790787 | HCN1 | c.457A= (p.Met153=) | |
| 5 | g.45645578C>A | CA359707874 | HCN1 | c.456G>T (p.Met152Ile) | |
| 5 | g.45645578C>G | CA359707875 | HCN1 | c.456G>C (p.Met152Ile) | |
| 5 | g.45645578C>T | CA359707876 | HCN1 | c.456G>A (p.Met152Ile) | COSMIC |
| 5 | g.45645579A>C | CA359707877 | HCN1 | c.455T>G (p.Met152Arg) | |
| 5 | g.45645579A>G | CA359707879 | HCN1 | c.455T>C (p.Met152Thr) | |
| 5 | g.45645579A>T | CA359707878 | HCN1 | c.455T>A (p.Met152Lys) | |
| 5 | g.45645580T>A | CA359707880 | HCN1 | c.454A>T (p.Met152Leu) | |
| 5 | g.45645580T>C | CA359707881 | HCN1 | c.454A>G (p.Met152Val) | gnomAD v4 |
| 5 | g.45645580T>G | CA359707882 | HCN1 | c.454A>C (p.Met152Leu) | |
| 5 | g.45645581T>A | CA444401549 | HCN1 | c.453A>T (p.Ile151=) | |
| 5 | g.45645581T>C | CA359707883 | HCN1 | c.453A>G (p.Ile151Met) | |
| 5 | g.45645581T>G | CA3259437 | HCN1 | c.453A>C (p.Ile151=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.45645581T= | CA1543790789 | HCN1 | c.453A= (p.Ile151=) | |
| 5 | g.45645582A= | CA1543790794 | HCN1 | c.452T= (p.Ile151=) | |
| 5 | g.45645582A>C | CA359707886 | HCN1 | c.452T>G (p.Ile151Arg) | gnomAD v4 |
| 5 | g.45645582A>G | CA359707885 | HCN1 | c.452T>C (p.Ile151Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.45645582A>T | CA359707884 | HCN1 | c.452T>A (p.Ile151Lys) | |
| 5 | g.45645583T>A | CA359707887 | HCN1 | c.451A>T (p.Ile151Leu) | dbSNP |
| 5 | g.45645583T>C | CA118324615 | HCN1 | c.451A>G (p.Ile151Val) | ClinVar dbSNP |
| 5 | g.45645583T>G | CA359707888 | HCN1 | c.451A>C (p.Ile151Leu) | |
| 5 | g.45645583T= | CA1543790798 | HCN1 | c.451A= (p.Ile151=) | |
| 5 | g.45645584A>C | CA444401555 | HCN1 | c.450T>G (p.Leu150=) | |
| 5 | g.45645584A>G | CA444401557 | HCN1 | c.450T>C (p.Leu150=) | gnomAD v4 |
| 5 | g.45645584A>T | CA444401556 | HCN1 | c.450T>A (p.Leu150=) | |
| 5 | g.45645585A= | CA1543790803 | HCN1 | c.449T= (p.Leu150=) | |
| 5 | g.45645585A>C | CA359707889 | HCN1 | c.449T>G (p.Leu150Arg) | |
| 5 | g.45645585A>G | CA359707890 | HCN1 | c.449T>C (p.Leu150Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.45645585A>T | CA359707891 | HCN1 | c.449T>A (p.Leu150His) | |
| 5 | g.45645586G>A | CA359707894 | HCN1 | c.448C>T (p.Leu150Phe) | |
| 5 | g.45645586G>C | CA359707892 | HCN1 | c.448C>G (p.Leu150Val) | |
| 5 | g.45645586G>T | CA359707893 | HCN1 | c.448C>A (p.Leu150Ile) | |
| 5 | g.45645587C>A | CA359707895 | HCN1 | c.447G>T (p.Met149Ile) | |
| 5 | g.45645587C= | CA1543790806 | HCN1 | c.447G= (p.Met149=) | |
| 5 | g.45645587C>G | CA359707896 | HCN1 | c.447G>C (p.Met149Ile) | |
| 5 | g.45645587C>T | CA359707897 | HCN1 | c.447G>A (p.Met149Ile) | dbSNP gnomAD v4 |