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 |
|---|---|---|---|---|---|
| 15 | g.73329703A>C | CA393093840 | HCN4 | c.1460T>G (p.Val487Gly) c.242T>G (p.Val81Gly) | |
| 15 | g.73329703A>G | CA393093842 | HCN4 | c.1460T>C (p.Val487Ala) c.242T>C (p.Val81Ala) | |
| 15 | g.73329703A>T | CA393093843 | HCN4 | c.1460T>A (p.Val487Glu) c.242T>A (p.Val81Glu) | |
| 15 | g.73329704C>A | CA393093845 | HCN4 | c.1459G>T (p.Val487Leu) c.241G>T (p.Val81Leu) | |
| 15 | g.73329704C= | CA2187167560 | HCN4 | c.1459G= (p.Val487=) c.241G= (p.Val81=) | |
| 15 | g.73329704C>G | CA393093848 | HCN4 | c.1459G>C (p.Val487Leu) c.241G>C (p.Val81Leu) | |
| 15 | g.73329704C>T | CA234114 | HCN4 | c.1459G>A (p.Val487Met) c.241G>A (p.Val81Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73329705G>A | CA7649291 | HCN4 | c.1458C>T (p.Pro486=) c.240C>T (p.Pro80=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73329705G>C | CA491151694 | HCN4 | c.1458C>G (p.Pro486=) c.240C>G (p.Pro80=) | gnomAD v4 |
| 15 | g.73329705G= | CA2187167569 | HCN4 | c.1458C= (p.Pro486=) c.240C= (p.Pro80=) | |
| 15 | g.73329705G>T | CA491151695 | HCN4 | c.1458C>A (p.Pro486=) c.240C>A (p.Pro80=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73329706G>A | CA393093852 | HCN4 | c.1457C>T (p.Pro486Leu) c.239C>T (p.Pro80Leu) | gnomAD v4 |
| 15 | g.73329706G>C | CA393093853 | HCN4 | c.1457C>G (p.Pro486Arg) c.239C>G (p.Pro80Arg) | |
| 15 | g.73329706G>T | CA393093855 | HCN4 | c.1457C>A (p.Pro486His) c.239C>A (p.Pro80His) | |
| 15 | g.73329707G>A | CA393093858 | HCN4 | c.1456C>T (p.Pro486Ser) c.238C>T (p.Pro80Ser) | ClinVar dbSNP |
| 15 | g.73329707G>C | CA393093860 | HCN4 | c.1456C>G (p.Pro486Ala) c.238C>G (p.Pro80Ala) | |
| 15 | g.73329707G>T | CA393093862 | HCN4 | c.1456C>A (p.Pro486Thr) c.238C>A (p.Pro80Thr) | |
| 15 | g.73329708C>A | CA491151703 | HCN4 | c.1455G>T (p.Ala485=) c.237G>T (p.Ala79=) | ClinVar dbSNP |
| 15 | g.73329708C= | CA2187167577 | HCN4 | c.1455G= (p.Ala485=) c.237G= (p.Ala79=) | |
| 15 | g.73329708C>G | CA491151704 | HCN4 | c.1455G>C (p.Ala485=) c.237G>C (p.Ala79=) | COSMIC |
| 15 | g.73329708C>T | CA7649292 | HCN4 | c.1455G>A (p.Ala485=) c.237G>A (p.Ala79=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.73329709G>A | CA393093865 | HCN4 | c.1454C>T (p.Ala485Val) c.236C>T (p.Ala79Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.73329709G>C | CA393093867 | HCN4 | c.1454C>G (p.Ala485Gly) c.236C>G (p.Ala79Gly) | gnomAD v4 |
| 15 | g.73329709G= | CA2187167582 | HCN4 | c.1454C= (p.Ala485=) c.236C= (p.Ala79=) | |
| 15 | g.73329709G>T | CA393093869 | HCN4 | c.1454C>A (p.Ala485Glu) c.236C>A (p.Ala79Glu) | |
| 15 | g.73329710C>A | CA393093870 | HCN4 | c.1453G>T (p.Ala485Ser) c.235G>T (p.Ala79Ser) | |
| 15 | g.73329710C>G | CA393093872 | HCN4 | c.1453G>C (p.Ala485Pro) c.235G>C (p.Ala79Pro) | COSMIC |
| 15 | g.73329710C>T | CA393093873 | HCN4 | c.1453G>A (p.Ala485Thr) c.235G>A (p.Ala79Thr) | |
| 15 | g.73329711C>A | CA393093876 | HCN4 | c.1452G>T (p.Gln484His) c.234G>T (p.Gln78His) | |
| 15 | g.73329711C>G | CA393093878 | HCN4 | c.1452G>C (p.Gln484His) c.234G>C (p.Gln78His) | |
| 15 | g.73329711C>T | CA491151717 | HCN4 | c.1452G>A (p.Gln484=) c.234G>A (p.Gln78=) | |
| 15 | g.73329711_73329727delinsCTGCCGCCCGTAGCCGA | CA2187167585 | HCN4 | c.1436_1452delinsTCGGCTACGGGCGGCAG (p.Ile479=) c.218_234delinsTCGGCTACGGGCGGCAG (p.Ile73=) | |
| 15 | g.73329712T>A | CA393093880 | HCN4 | c.1451A>T (p.Gln484Leu) c.233A>T (p.Gln78Leu) | |
| 15 | g.73329712T>C | CA393093882 | HCN4 | c.1451A>G (p.Gln484Arg) c.233A>G (p.Gln78Arg) | |
| 15 | g.73329712T>G | CA393093884 | HCN4 | c.1451A>C (p.Gln484Pro) c.233A>C (p.Gln78Pro) | |
| 15 | g.73329715_73329730del | CA619410697 | HCN4 | c.1436_1451del (p.Ile479ArgfsTer16) c.218_233del (p.Ile73ArgfsTer16) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73329713G>A | CA393093886 | HCN4 | c.1450C>T (p.Gln484Ter) c.232C>T (p.Gln78Ter) | |
| 15 | g.73329713G>C | CA393093888 | HCN4 | c.1450C>G (p.Gln484Glu) c.232C>G (p.Gln78Glu) | dbSNP |
| 15 | g.73329713G= | CA2187167590 | HCN4 | c.1450C= (p.Gln484=) c.232C= (p.Gln78=) | |
| 15 | g.73329713G>T | CA393093890 | HCN4 | c.1450C>A (p.Gln484Lys) c.232C>A (p.Gln78Lys) | |
| 15 | g.73329714C>A | CA491151725 | HCN4 | c.1449G>T (p.Arg483=) c.231G>T (p.Arg77=) | gnomAD v4 |
| 15 | g.73329714C= | CA2187167592 | HCN4 | c.1449G= (p.Arg483=) c.231G= (p.Arg77=) | |
| 15 | g.73329714C>G | CA491151727 | HCN4 | c.1449G>C (p.Arg483=) c.231G>C (p.Arg77=) | |
| 15 | g.73329714C>T | CA491151729 | HCN4 | c.1449G>A (p.Arg483=) c.231G>A (p.Arg77=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73329715C>A | CA393093892 | HCN4 | c.1448G>T (p.Arg483Leu) c.230G>T (p.Arg77Leu) | |
| 15 | g.73329715C= | CA2187167596 | HCN4 | c.1448G= (p.Arg483=) c.230G= (p.Arg77=) | |
| 15 | g.73329715C>G | CA393093894 | HCN4 | c.1448G>C (p.Arg483Pro) c.230G>C (p.Arg77Pro) | |
| 15 | g.73329715C>T | CA272672089 | HCN4 | c.1448G>A (p.Arg483Gln) c.230G>A (p.Arg77Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.73329716G>A | CA393093899 | HCN4 | c.1447C>T (p.Arg483Trp) c.229C>T (p.Arg77Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73329716G>C | CA393093900 | HCN4 | c.1447C>G (p.Arg483Gly) c.229C>G (p.Arg77Gly) | |
| 15 | g.73329716G= | CA2187167600 | HCN4 | c.1447C= (p.Arg483=) c.229C= (p.Arg77=) | |
| 15 | g.73329716G>T | CA491151736 | HCN4 | c.1447C>A (p.Arg483=) c.229C>A (p.Arg77=) | |
| 15 | g.73329717C>A | CA491151738 | HCN4 | c.1446G>T (p.Gly482=) c.228G>T (p.Gly76=) | |
| 15 | g.73329717C>G | CA491151740 | HCN4 | c.1446G>C (p.Gly482=) c.228G>C (p.Gly76=) | |
| 15 | g.73329717C>T | CA491151742 | HCN4 | c.1446G>A (p.Gly482=) c.228G>A (p.Gly76=) | |
| 15 | g.73329718C>A | CA393093903 | HCN4 | c.1445G>T (p.Gly482Val) c.227G>T (p.Gly76Val) | |
| 15 | g.73329718C>G | CA393093906 | HCN4 | c.1445G>C (p.Gly482Ala) c.227G>C (p.Gly76Ala) | |
| 15 | g.73329718C>T | CA393093905 | HCN4 | c.1445G>A (p.Gly482Glu) c.227G>A (p.Gly76Glu) | ClinVar dbSNP |
| 15 | g.73329719C>A | CA393093909 | HCN4 | c.1444G>T (p.Gly482Trp) c.226G>T (p.Gly76Trp) | |
| 15 | g.73329719C= | CA2187167606 | HCN4 | c.1444G= (p.Gly482=) c.226G= (p.Gly76=) | |
| 15 | g.73329719C>G | CA16043942 | HCN4 | c.1444G>C (p.Gly482Arg) c.226G>C (p.Gly76Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73329719C>T | CA202778 | HCN4 | c.1444G>A (p.Gly482Arg) c.226G>A (p.Gly76Arg) | ClinVar dbSNP |
| 15 | g.73329720G>A | CA7649293 | HCN4 | c.1443C>T (p.Tyr481=) c.225C>T (p.Tyr75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73329720G>C | CA393093913 | HCN4 | c.1443C>G (p.Tyr481Ter) c.225C>G (p.Tyr75Ter) | |
| 15 | g.73329720G= | CA2187167618 | HCN4 | c.1443C= (p.Tyr481=) c.225C= (p.Tyr75=) | |
| 15 | g.73329720G>T | CA393093915 | HCN4 | c.1443C>A (p.Tyr481Ter) c.225C>A (p.Tyr75Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73329720_73329721delinsCA | CA2580089965 | HCN4 | c.1442_1443delinsTG (p.Tyr481Leu) c.224_225delinsTG (p.Tyr75Leu) | ClinVar |
| 15 | g.73329721T>A | CA393093917 | HCN4 | c.1442A>T (p.Tyr481Phe) c.224A>T (p.Tyr75Phe) | |
| 15 | g.73329721T>C | CA393093919 | HCN4 | c.1442A>G (p.Tyr481Cys) c.224A>G (p.Tyr75Cys) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73329721T>G | CA393093921 | HCN4 | c.1442A>C (p.Tyr481Ser) c.224A>C (p.Tyr75Ser) | |
| 15 | g.73329722A= | CA2187167624 | HCN4 | c.1441T= (p.Tyr481=) c.223T= (p.Tyr75=) | |
| 15 | g.73329722A>C | CA393093923 | HCN4 | c.1441T>G (p.Tyr481Asp) c.223T>G (p.Tyr75Asp) | |
| 15 | g.73329722A>G | CA16043943 | HCN4 | c.1441T>C (p.Tyr481His) c.223T>C (p.Tyr75His) | ClinVar dbSNP |
| 15 | g.73329722A>T | CA393093925 | HCN4 | c.1441T>A (p.Tyr481Asn) c.223T>A (p.Tyr75Asn) | |
| 15 | g.73329723G>A | CA491151767 | HCN4 | c.1440C>T (p.Gly480=) c.222C>T (p.Gly74=) | |
| 15 | g.73329723G>C | CA491151763 | HCN4 | c.1440C>G (p.Gly480=) c.222C>G (p.Gly74=) | |
| 15 | g.73329723G>T | CA491151765 | HCN4 | c.1440C>A (p.Gly480=) c.222C>A (p.Gly74=) | gnomAD v4 |
| 15 | g.73329724C>A | CA16614737 | HCN4 | c.1439G>T (p.Gly480Val) c.221G>T (p.Gly74Val) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73329724C= | CA2187167629 | HCN4 | c.1439G= (p.Gly480=) c.221G= (p.Gly74=) | |
| 15 | g.73329724C>G | CA393093928 | HCN4 | c.1439G>C (p.Gly480Ala) c.221G>C (p.Gly74Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73329724C>T | CA393093930 | HCN4 | c.1439G>A (p.Gly480Asp) c.221G>A (p.Gly74Asp) | |
| 15 | g.73329725C>A | CA393093937 | HCN4 | c.1438G>T (p.Gly480Cys) c.220G>T (p.Gly74Cys) | COSMIC |
| 15 | g.73329725C= | CA2187167635 | HCN4 | c.1438G= (p.Gly480=) c.220G= (p.Gly74=) | |
| 15 | g.73329725C>G | CA117313 | HCN4 | c.1438G>C (p.Gly480Arg) c.220G>C (p.Gly74Arg) | ClinVar dbSNP |
| 15 | g.73329725C>T | CA393093935 | HCN4 | c.1438G>A (p.Gly480Ser) c.220G>A (p.Gly74Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.73329726G>A | CA7649294 | HCN4 | c.1437C>T (p.Ile479=) c.219C>T (p.Ile73=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73329726G>C | CA393093940 | HCN4 | c.1437C>G (p.Ile479Met) c.219C>G (p.Ile73Met) | |
| 15 | g.73329726G= | CA2187167641 | HCN4 | c.1437C= (p.Ile479=) c.219C= (p.Ile73=) | |
| 15 | g.73329726G>T | CA491151777 | HCN4 | c.1437C>A (p.Ile479=) c.219C>A (p.Ile73=) | |
| 15 | g.73329727A>C | CA393093943 | HCN4 | c.1436T>G (p.Ile479Ser) c.218T>G (p.Ile73Ser) | |
| 15 | g.73329727A>G | CA393093945 | HCN4 | c.1436T>C (p.Ile479Thr) c.218T>C (p.Ile73Thr) | |
| 15 | g.73329727A>T | CA393093947 | HCN4 | c.1436T>A (p.Ile479Asn) c.218T>A (p.Ile73Asn) | |
| 15 | g.73329728T>A | CA393093949 | HCN4 | c.1435A>T (p.Ile479Phe) c.217A>T (p.Ile73Phe) | |
| 15 | g.73329728T>C | CA393093950 | HCN4 | c.1435A>G (p.Ile479Val) c.217A>G (p.Ile73Val) | gnomAD v4 |
| 15 | g.73329728T>G | CA393093951 | HCN4 | c.1435A>C (p.Ile479Leu) c.217A>C (p.Ile73Leu) | ClinVar dbSNP |
| 15 | g.73329728T= | CA2187167646 | HCN4 | c.1435A= (p.Ile479=) c.217A= (p.Ile73=) | |
| 15 | g.73329729G>A | CA272672110 | HCN4 | c.1434C>T (p.Cys478=) c.216C>T (p.Cys72=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73329729G>C | CA393093952 | HCN4 | c.1434C>G (p.Cys478Trp) c.216C>G (p.Cys72Trp) | |
| 15 | g.73329729G= | CA2187167649 | HCN4 | c.1434C= (p.Cys478=) c.216C= (p.Cys72=) | |
| 15 | g.73329729G>T | CA393093954 | HCN4 | c.1434C>A (p.Cys478Ter) c.216C>A (p.Cys72Ter) | |
| 15 | g.73329730C>A | CA393093961 | HCN4 | c.1433G>T (p.Cys478Phe) c.215G>T (p.Cys72Phe) | |
| 15 | g.73329730C>G | CA393093959 | HCN4 | c.1433G>C (p.Cys478Ser) c.215G>C (p.Cys72Ser) | |
| 15 | g.73329730C>T | CA393093957 | HCN4 | c.1433G>A (p.Cys478Tyr) c.215G>A (p.Cys72Tyr) | ClinVar |
| 15 | g.73329731A>C | CA393093962 | HCN4 | c.1432T>G (p.Cys478Gly) c.214T>G (p.Cys72Gly) | |
| 15 | g.73329731A>G | CA393093964 | HCN4 | c.1432T>C (p.Cys478Arg) c.214T>C (p.Cys72Arg) | |
| 15 | g.73329731A>T | CA393093967 | HCN4 | c.1432T>A (p.Cys478Ser) c.214T>A (p.Cys72Ser) | gnomAD v4 |
| 15 | g.73329732C>A | CA491151797 | HCN4 | c.1431G>T (p.Leu477=) c.213G>T (p.Leu71=) | |
| 15 | g.73329732C>G | CA491151799 | HCN4 | c.1431G>C (p.Leu477=) c.213G>C (p.Leu71=) | |
| 15 | g.73329732C>T | CA491151801 | HCN4 | c.1431G>A (p.Leu477=) c.213G>A (p.Leu71=) | gnomAD v4 |
| 15 | g.73329733A>C | CA393093969 | HCN4 | c.1430T>G (p.Leu477Arg) c.212T>G (p.Leu71Arg) | |
| 15 | g.73329733A>G | CA393093971 | HCN4 | c.1430T>C (p.Leu477Pro) c.212T>C (p.Leu71Pro) | ClinVar |
| 15 | g.73329733A>T | CA393093973 | HCN4 | c.1430T>A (p.Leu477Gln) c.212T>A (p.Leu71Gln) | |
| 15 | g.73329734G>A | CA491151808 | HCN4 | c.1429C>T (p.Leu477=) c.211C>T (p.Leu71=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73329734G>C | CA393093977 | HCN4 | c.1429C>G (p.Leu477Val) c.211C>G (p.Leu71Val) | |
| 15 | g.73329734G= | CA2187167653 | HCN4 | c.1429C= (p.Leu477=) c.211C= (p.Leu71=) | |
| 15 | g.73329734G>T | CA393093975 | HCN4 | c.1429C>A (p.Leu477Met) c.211C>A (p.Leu71Met) | |
| 15 | g.73329735C>A | CA393093980 | HCN4 | c.1428G>T (p.Met476Ile) c.210G>T (p.Met70Ile) | |
| 15 | g.73329735C>G | CA393093982 | HCN4 | c.1428G>C (p.Met476Ile) c.210G>C (p.Met70Ile) | |
| 15 | g.73329735C>T | CA393093983 | HCN4 | c.1428G>A (p.Met476Ile) c.210G>A (p.Met70Ile) | |
| 15 | g.73329736A>C | CA393093985 | HCN4 | c.1427T>G (p.Met476Arg) c.209T>G (p.Met70Arg) | |
| 15 | g.73329736A>G | CA393093987 | HCN4 | c.1427T>C (p.Met476Thr) c.209T>C (p.Met70Thr) | ClinVar |
| 15 | g.73329736A>T | CA393093990 | HCN4 | c.1427T>A (p.Met476Lys) c.209T>A (p.Met70Lys) | |
| 15 | g.73329737T>A | CA393093992 | HCN4 | c.1426A>T (p.Met476Leu) c.208A>T (p.Met70Leu) | |
| 15 | g.73329737T>C | CA393093996 | HCN4 | c.1426A>G (p.Met476Val) c.208A>G (p.Met70Val) | |
| 15 | g.73329737T>G | CA393093994 | HCN4 | c.1426A>C (p.Met476Leu) c.208A>C (p.Met70Leu) | |
| 15 | g.73329738G>A | CA491151823 | HCN4 | c.1425C>T (p.His475=) c.207C>T (p.His69=) | |
| 15 | g.73329738G>C | CA393093998 | HCN4 | c.1425C>G (p.His475Gln) c.207C>G (p.His69Gln) | |
| 15 | g.73329738G>T | CA393094000 | HCN4 | c.1425C>A (p.His475Gln) c.207C>A (p.His69Gln) | |
| 15 | g.73329739T>A | CA393094001 | HCN4 | c.1424A>T (p.His475Leu) c.206A>T (p.His69Leu) | |
| 15 | g.73329739T>C | CA393094002 | HCN4 | c.1424A>G (p.His475Arg) c.206A>G (p.His69Arg) | ClinVar dbSNP |
| 15 | g.73329739T>G | CA393094003 | HCN4 | c.1424A>C (p.His475Pro) c.206A>C (p.His69Pro) | |
| 15 | g.73329739T= | CA2187167657 | HCN4 | c.1424A= (p.His475=) c.206A= (p.His69=) | |
| 15 | g.73329740G>A | CA393094004 | HCN4 | c.1423C>T (p.His475Tyr) c.205C>T (p.His69Tyr) | |
| 15 | g.73329740G>C | CA393094006 | HCN4 | c.1423C>G (p.His475Asp) c.205C>G (p.His69Asp) | |
| 15 | g.73329740G>T | CA393094008 | HCN4 | c.1423C>A (p.His475Asn) c.205C>A (p.His69Asn) | |
| 15 | g.73329741G>A | CA491151835 | HCN4 | c.1422C>T (p.Ser474=) c.204C>T (p.Ser68=) | |
| 15 | g.73329741G>C | CA393094010 | HCN4 | c.1422C>G (p.Ser474Arg) c.204C>G (p.Ser68Arg) | |
| 15 | g.73329741G>T | CA393094012 | HCN4 | c.1422C>A (p.Ser474Arg) c.204C>A (p.Ser68Arg) | |
| 15 | g.73329742C>A | CA393094017 | HCN4 | c.1421G>T (p.Ser474Ile) c.203G>T (p.Ser68Ile) | |
| 15 | g.73329742C>G | CA393094016 | HCN4 | c.1421G>C (p.Ser474Thr) c.203G>C (p.Ser68Thr) | |
| 15 | g.73329742C>T | CA393094015 | HCN4 | c.1421G>A (p.Ser474Asn) c.203G>A (p.Ser68Asn) | ClinVar dbSNP |
| 15 | g.73329743T>A | CA393094019 | HCN4 | c.1420A>T (p.Ser474Cys) c.202A>T (p.Ser68Cys) | |
| 15 | g.73329743T>C | CA393094021 | HCN4 | c.1420A>G (p.Ser474Gly) c.202A>G (p.Ser68Gly) | |
| 15 | g.73329743T>G | CA393094020 | HCN4 | c.1420A>C (p.Ser474Arg) c.202A>C (p.Ser68Arg) | |
| 15 | g.73329744C>A | CA393094023 | HCN4 | c.1419G>T (p.Met473Ile) c.201G>T (p.Met67Ile) | |
| 15 | g.73329744C= | CA2187167662 | HCN4 | c.1419G= (p.Met473=) c.201G= (p.Met67=) | |
| 15 | g.73329744C>G | CA393094025 | HCN4 | c.1419G>C (p.Met473Ile) c.201G>C (p.Met67Ile) | |
| 15 | g.73329744C>T | CA16614922 | HCN4 | c.1419G>A (p.Met473Ile) c.201G>A (p.Met67Ile) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73329745A= | CA2187167665 | HCN4 | c.1418T= (p.Met473=) c.200T= (p.Met67=) | |
| 15 | g.73329745A>C | CA393094027 | HCN4 | c.1418T>G (p.Met473Arg) c.200T>G (p.Met67Arg) | |
| 15 | g.73329745A>G | CA393094029 | HCN4 | c.1418T>C (p.Met473Thr) c.200T>C (p.Met67Thr) | ClinVar dbSNP |
| 15 | g.73329745A>T | CA393094031 | HCN4 | c.1418T>A (p.Met473Lys) c.200T>A (p.Met67Lys) | |
| 15 | g.73329746T>A | CA393094034 | HCN4 | c.1417A>T (p.Met473Leu) c.199A>T (p.Met67Leu) | |
| 15 | g.73329746T>C | CA393094033 | HCN4 | c.1417A>G (p.Met473Val) c.199A>G (p.Met67Val) | ClinVar gnomAD v4 |
| 15 | g.73329746T>G | CA393094032 | HCN4 | c.1417A>C (p.Met473Leu) c.199A>C (p.Met67Leu) | |
| 15 | g.73329747G>A | CA491151859 | HCN4 | c.1416C>T (p.Ala472=) c.198C>T (p.Ala66=) | |
| 15 | g.73329747G>C | CA491151855 | HCN4 | c.1416C>G (p.Ala472=) c.198C>G (p.Ala66=) | |
| 15 | g.73329747G>T | CA491151857 | HCN4 | c.1416C>A (p.Ala472=) c.198C>A (p.Ala66=) | |
| 15 | g.73329748G>A | CA393094035 | HCN4 | c.1415C>T (p.Ala472Val) c.197C>T (p.Ala66Val) | gnomAD v4 |
| 15 | g.73329748G>C | CA393094036 | HCN4 | c.1415C>G (p.Ala472Gly) c.197C>G (p.Ala66Gly) | |
| 15 | g.73329748G>T | CA393094037 | HCN4 | c.1415C>A (p.Ala472Asp) c.197C>A (p.Ala66Asp) | |
| 15 | g.73329749C>A | CA393094043 | HCN4 | c.1414G>T (p.Ala472Ser) c.196G>T (p.Ala66Ser) | |
| 15 | g.73329749C>G | CA393094045 | HCN4 | c.1414G>C (p.Ala472Pro) c.196G>C (p.Ala66Pro) | |
| 15 | g.73329749C>T | CA393094046 | HCN4 | c.1414G>A (p.Ala472Thr) c.196G>A (p.Ala66Thr) | ClinVar |
| 15 | g.73329750C>A | CA393094048 | HCN4 | c.1413G>T (p.Lys471Asn) c.195G>T (p.Lys65Asn) | COSMIC |
| 15 | g.73329750C= | CA2187167667 | HCN4 | c.1413G= (p.Lys471=) c.195G= (p.Lys65=) | |
| 15 | g.73329750C>G | CA393094050 | HCN4 | c.1413G>C (p.Lys471Asn) c.195G>C (p.Lys65Asn) | gnomAD v4 |
| 15 | g.73329750C>T | CA7649295 | HCN4 | c.1413G>A (p.Lys471=) c.195G>A (p.Lys65=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73329751T>A | CA393094051 | HCN4 | c.1412A>T (p.Lys471Met) c.194A>T (p.Lys65Met) | dbSNP |
| 15 | g.73329751T>C | CA393094052 | HCN4 | c.1412A>G (p.Lys471Arg) c.194A>G (p.Lys65Arg) | |
| 15 | g.73329751T>G | CA272672130 | HCN4 | c.1412A>C (p.Lys471Thr) c.194A>C (p.Lys65Thr) | dbSNP |
| 15 | g.73329751T= | CA2187167668 | HCN4 | c.1412A= (p.Lys471=) c.194A= (p.Lys65=) | |
| 15 | g.73329752T>A | CA393094054 | HCN4 | c.1411A>T (p.Lys471Ter) c.193A>T (p.Lys65Ter) | |
| 15 | g.73329752T>C | CA393094056 | HCN4 | c.1411A>G (p.Lys471Glu) c.193A>G (p.Lys65Glu) | |
| 15 | g.73329752T>G | CA393094058 | HCN4 | c.1411A>C (p.Lys471Gln) c.193A>C (p.Lys65Gln) | |
| 15 | g.73329753G>A | CA491151878 | HCN4 | c.1410C>T (p.Phe470=) c.192C>T (p.Phe64=) | gnomAD v4 |
| 15 | g.73329753G>C | CA393094059 | HCN4 | c.1410C>G (p.Phe470Leu) c.192C>G (p.Phe64Leu) | |
| 15 | g.73329753G>T | CA393094061 | HCN4 | c.1410C>A (p.Phe470Leu) c.192C>A (p.Phe64Leu) | |
| 15 | g.73329754A>C | CA393094063 | HCN4 | c.1409T>G (p.Phe470Cys) c.191T>G (p.Phe64Cys) | |
| 15 | g.73329754A>G | CA393094065 | HCN4 | c.1409T>C (p.Phe470Ser) c.191T>C (p.Phe64Ser) | |
| 15 | g.73329754A>T | CA393094067 | HCN4 | c.1409T>A (p.Phe470Tyr) c.191T>A (p.Phe64Tyr) | |
| 15 | g.73329755A>C | CA393094070 | HCN4 | c.1408T>G (p.Phe470Val) c.190T>G (p.Phe64Val) | |
| 15 | g.73329755A>G | CA393094073 | HCN4 | c.1408T>C (p.Phe470Leu) c.190T>C (p.Phe64Leu) | |
| 15 | g.73329755A>T | CA393094071 | HCN4 | c.1408T>A (p.Phe470Ile) c.190T>A (p.Phe64Ile) | |
| 15 | g.73329756G>A | CA491151886 | HCN4 | c.1407C>T (p.Leu469=) c.189C>T (p.Leu63=) | gnomAD v4 |
| 15 | g.73329756G>C | CA491151888 | HCN4 | c.1407C>G (p.Leu469=) c.189C>G (p.Leu63=) | ClinVar dbSNP |
| 15 | g.73329756G>T | CA491151890 | HCN4 | c.1407C>A (p.Leu469=) c.189C>A (p.Leu63=) | |
| 15 | g.73329757A>C | CA393094075 | HCN4 | c.1406T>G (p.Leu469Arg) c.188T>G (p.Leu63Arg) | |
| 15 | g.73329757A>G | CA393094076 | HCN4 | c.1406T>C (p.Leu469Pro) c.188T>C (p.Leu63Pro) | |
| 15 | g.73329757A>T | CA393094078 | HCN4 | c.1406T>A (p.Leu469His) c.188T>A (p.Leu63His) | |
| 15 | g.73329758G>A | CA393094081 | HCN4 | c.1405C>T (p.Leu469Phe) c.187C>T (p.Leu63Phe) | |
| 15 | g.73329758G>C | CA393094082 | HCN4 | c.1405C>G (p.Leu469Val) c.187C>G (p.Leu63Val) | |
| 15 | g.73329758G>T | CA393094083 | HCN4 | c.1405C>A (p.Leu469Ile) c.187C>A (p.Leu63Ile) | |
| 15 | g.73329759C>A | CA491151900 | HCN4 | c.1404G>T (p.Ala468=) c.186G>T (p.Ala62=) | |
| 15 | g.73329759C= | CA2187167671 | HCN4 | c.1404G= (p.Ala468=) c.186G= (p.Ala62=) | |
| 15 | g.73329759C>G | CA491151902 | HCN4 | c.1404G>C (p.Ala468=) c.186G>C (p.Ala62=) | |
| 15 | g.73329759C>T | CA7649296 | HCN4 | c.1404G>A (p.Ala468=) c.186G>A (p.Ala62=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.73329759_73329760insAG | CA2804727105 | HCN4 | c.1403_1404insCT (p.Leu469CysfsTer6) c.185_186insCT (p.Leu63CysfsTer6) | |
| 15 | g.73329760G>A | CA7649297 | HCN4 | c.1403C>T (p.Ala468Val) c.185C>T (p.Ala62Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73329760G>C | CA393094087 | HCN4 | c.1403C>G (p.Ala468Gly) c.185C>G (p.Ala62Gly) | |
| 15 | g.73329760G= | CA2187167674 | HCN4 | c.1403C= (p.Ala468=) c.185C= (p.Ala62=) | |
| 15 | g.73329760G>T | CA393094089 | HCN4 | c.1403C>A (p.Ala468Glu) c.185C>A (p.Ala62Glu) | |
| 15 | g.73329761C>A | CA393094091 | HCN4 | c.1402G>T (p.Ala468Ser) c.184G>T (p.Ala62Ser) | gnomAD v4 |
| 15 | g.73329761C= | CA2187167680 | HCN4 | c.1402G= (p.Ala468=) c.184G= (p.Ala62=) | |
| 15 | g.73329761C>G | CA393094092 | HCN4 | c.1402G>C (p.Ala468Pro) c.184G>C (p.Ala62Pro) | |
| 15 | g.73329761C>T | CA7649298 | HCN4 | c.1402G>A (p.Ala468Thr) c.184G>A (p.Ala62Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73329762G>A | CA7649299 | HCN4 | c.1401C>T (p.Tyr467=) c.183C>T (p.Tyr61=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73329762G>C | CA393094096 | HCN4 | c.1401C>G (p.Tyr467Ter) c.183C>G (p.Tyr61Ter) | |
| 15 | g.73329762G= | CA2187167684 | HCN4 | c.1401C= (p.Tyr467=) c.183C= (p.Tyr61=) | |
| 15 | g.73329762G>T | CA393094094 | HCN4 | c.1401C>A (p.Tyr467Ter) c.183C>A (p.Tyr61Ter) | |
| 15 | g.73329763T>A | CA393094098 | HCN4 | c.1400A>T (p.Tyr467Phe) c.182A>T (p.Tyr61Phe) | |
| 15 | g.73329763T>C | CA393094099 | HCN4 | c.1400A>G (p.Tyr467Cys) c.182A>G (p.Tyr61Cys) | gnomAD v4 |
| 15 | g.73329763T>G | CA393094101 | HCN4 | c.1400A>C (p.Tyr467Ser) c.182A>C (p.Tyr61Ser) | |
| 15 | g.73329764A>C | CA393094102 | HCN4 | c.1399T>G (p.Tyr467Asp) c.181T>G (p.Tyr61Asp) | |
| 15 | g.73329764A>G | CA393094104 | HCN4 | c.1399T>C (p.Tyr467His) c.181T>C (p.Tyr61His) | |
| 15 | g.73329764A>T | CA393094105 | HCN4 | c.1399T>A (p.Tyr467Asn) c.181T>A (p.Tyr61Asn) | |
| 15 | g.73329765G>A | CA7649300 | HCN4 | c.1398C>T (p.Ser466=) c.180C>T (p.Ser60=) | dbSNP ExAC gnomAD v2 |
| 15 | g.73329765G>C | CA491151922 | HCN4 | c.1398C>G (p.Ser466=) c.180C>G (p.Ser60=) | |
| 15 | g.73329765G= | CA2187167689 | HCN4 | c.1398C= (p.Ser466=) c.180C= (p.Ser60=) | |
| 15 | g.73329765G>T | CA491151923 | HCN4 | c.1398C>A (p.Ser466=) c.180C>A (p.Ser60=) | |
| 15 | g.73329766G>A | CA393094109 | HCN4 | c.1397C>T (p.Ser466Phe) c.179C>T (p.Ser60Phe) | |
| 15 | g.73329766G>C | CA393094110 | HCN4 | c.1397C>G (p.Ser466Cys) c.179C>G (p.Ser60Cys) | gnomAD v4 |
| 15 | g.73329766G>T | CA393094112 | HCN4 | c.1397C>A (p.Ser466Tyr) c.179C>A (p.Ser60Tyr) | |
| 15 | g.73329767A>C | CA393094117 | HCN4 | c.1396T>G (p.Ser466Ala) c.178T>G (p.Ser60Ala) | |
| 15 | g.73329767A>G | CA393094116 | HCN4 | c.1396T>C (p.Ser466Pro) c.178T>C (p.Ser60Pro) | gnomAD v4 |
| 15 | g.73329767A>T | CA393094114 | HCN4 | c.1396T>A (p.Ser466Thr) c.178T>A (p.Ser60Thr) | |
| 15 | g.73329768G>A | CA7649301 | HCN4 | c.1395C>T (p.Tyr465=) c.177C>T (p.Tyr59=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73329768G>C | CA393094119 | HCN4 | c.1395C>G (p.Tyr465Ter) c.177C>G (p.Tyr59Ter) | |
| 15 | g.73329768G= | CA2187167693 | HCN4 | c.1395C= (p.Tyr465=) c.177C= (p.Tyr59=) | |
| 15 | g.73329768G>T | CA393094121 | HCN4 | c.1395C>A (p.Tyr465Ter) c.177C>A (p.Tyr59Ter) | |
| 15 | g.73329769T>A | CA393094123 | HCN4 | c.1394A>T (p.Tyr465Phe) c.176A>T (p.Tyr59Phe) | |
| 15 | g.73329769T>C | CA393094124 | HCN4 | c.1394A>G (p.Tyr465Cys) c.176A>G (p.Tyr59Cys) | |
| 15 | g.73329769T>G | CA393094126 | HCN4 | c.1394A>C (p.Tyr465Ser) c.176A>C (p.Tyr59Ser) | |
| 15 | g.73329770A>C | CA393094128 | HCN4 | c.1393T>G (p.Tyr465Asp) c.175T>G (p.Tyr59Asp) | |
| 15 | g.73329770A>G | CA393094130 | HCN4 | c.1393T>C (p.Tyr465His) c.175T>C (p.Tyr59His) | |
| 15 | g.73329770A>T | CA393094132 | HCN4 | c.1393T>A (p.Tyr465Asn) c.175T>A (p.Tyr59Asn) | |
| 15 | g.73329771C>A | CA393094134 | HCN4 | c.1392G>T (p.Gln464His) c.174G>T (p.Gln58His) | |
| 15 | g.73329771C>G | CA393094135 | HCN4 | c.1392G>C (p.Gln464His) c.174G>C (p.Gln58His) | |
| 15 | g.73329771C>T | CA491151944 | HCN4 | c.1392G>A (p.Gln464=) c.174G>A (p.Gln58=) | |
| 15 | g.73329772T>A | CA393094137 | HCN4 | c.1391A>T (p.Gln464Leu) c.173A>T (p.Gln58Leu) | |
| 15 | g.73329772T>C | CA393094139 | HCN4 | c.1391A>G (p.Gln464Arg) c.173A>G (p.Gln58Arg) | dbSNP |
| 15 | g.73329772T>G | CA393094140 | HCN4 | c.1391A>C (p.Gln464Pro) c.173A>C (p.Gln58Pro) | |
| 15 | g.73329772T= | CA2187167696 | HCN4 | c.1391A= (p.Gln464=) c.173A= (p.Gln58=) | |
| 15 | g.73329773G>A | CA393094145 | HCN4 | c.1390C>T (p.Gln464Ter) c.172C>T (p.Gln58Ter) | ClinVar |
| 15 | g.73329773G>C | CA393094144 | HCN4 | c.1390C>G (p.Gln464Glu) c.172C>G (p.Gln58Glu) | |
| 15 | g.73329773G>T | CA393094142 | HCN4 | c.1390C>A (p.Gln464Lys) c.172C>A (p.Gln58Lys) | |
| 15 | g.73329774C>A | CA393094147 | HCN4 | c.1389G>T (p.Lys463Asn) c.171G>T (p.Lys57Asn) | |
| 15 | g.73329774C= | CA2187167700 | HCN4 | c.1389G= (p.Lys463=) c.171G= (p.Lys57=) | |
| 15 | g.73329774C>G | CA393094149 | HCN4 | c.1389G>C (p.Lys463Asn) c.171G>C (p.Lys57Asn) | |
| 15 | g.73329774C>T | CA491151953 | HCN4 | c.1389G>A (p.Lys463=) c.171G>A (p.Lys57=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73329775T>A | CA393094151 | HCN4 | c.1388A>T (p.Lys463Met) c.170A>T (p.Lys57Met) | |
| 15 | g.73329775T>C | CA393094153 | HCN4 | c.1388A>G (p.Lys463Arg) c.170A>G (p.Lys57Arg) | ClinVar dbSNP |
| 15 | g.73329775T>G | CA393094154 | HCN4 | c.1388A>C (p.Lys463Thr) c.170A>C (p.Lys57Thr) | |
| 15 | g.73329776T>A | CA393094156 | HCN4 | c.1387A>T (p.Lys463Ter) c.169A>T (p.Lys57Ter) | |
| 15 | g.73329776T>C | CA393094157 | HCN4 | c.1387A>G (p.Lys463Glu) c.169A>G (p.Lys57Glu) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73329776T>G | CA393094159 | HCN4 | c.1387A>C (p.Lys463Gln) c.169A>C (p.Lys57Gln) | |
| 15 | g.73329776T= | CA2187167705 | HCN4 | c.1387A= (p.Lys463=) c.169A= (p.Lys57=) | |
| 15 | g.73329777C>A | CA491151963 | HCN4 | c.1386G>T (p.Gly462=) c.168G>T (p.Gly56=) | |
| 15 | g.73329777C= | CA2187167708 | HCN4 | c.1386G= (p.Gly462=) c.168G= (p.Gly56=) | |
| 15 | g.73329777C>G | CA491151965 | HCN4 | c.1386G>C (p.Gly462=) c.168G>C (p.Gly56=) | |
| 15 | g.73329777C>T | CA491151967 | HCN4 | c.1386G>A (p.Gly462=) c.168G>A (p.Gly56=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73329778C>A | CA393094161 | HCN4 | c.1385G>T (p.Gly462Val) c.167G>T (p.Gly56Val) | |
| 15 | g.73329778C= | CA2187167710 | HCN4 | c.1385G= (p.Gly462=) c.167G= (p.Gly56=) | |
| 15 | g.73329778C>G | CA393094163 | HCN4 | c.1385G>C (p.Gly462Ala) c.167G>C (p.Gly56Ala) | |
| 15 | g.73329778C>T | CA7649302 | HCN4 | c.1385G>A (p.Gly462Glu) c.167G>A (p.Gly56Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.73329779C>A | CA393094166 | HCN4 | c.1384G>T (p.Gly462Trp) c.166G>T (p.Gly56Trp) | |
| 15 | g.73329779C>G | CA393094167 | HCN4 | c.1384G>C (p.Gly462Arg) c.166G>C (p.Gly56Arg) | |
| 15 | g.73329779C>T | CA393094169 | HCN4 | c.1384G>A (p.Gly462Arg) c.166G>A (p.Gly56Arg) | COSMIC |
| 15 | g.73329780C>A | CA393094172 | HCN4 | c.1383G>T (p.Trp461Cys) c.165G>T (p.Trp55Cys) | |
| 15 | g.73329780C>G | CA393094174 | HCN4 | c.1383G>C (p.Trp461Cys) c.165G>C (p.Trp55Cys) | |
| 15 | g.73329780C>T | CA393094170 | HCN4 | c.1383G>A (p.Trp461Ter) c.165G>A (p.Trp55Ter) | |
| 15 | g.73329781C>A | CA393094176 | HCN4 | c.1382G>T (p.Trp461Leu) c.164G>T (p.Trp55Leu) | ClinVar |
| 15 | g.73329781C>G | CA393094177 | HCN4 | c.1382G>C (p.Trp461Ser) c.164G>C (p.Trp55Ser) | |
| 15 | g.73329781C>T | CA393094179 | HCN4 | c.1382G>A (p.Trp461Ter) c.164G>A (p.Trp55Ter) | |
| 15 | g.73329782A= | CA2187167713 | HCN4 | c.1381T= (p.Trp461=) c.163T= (p.Trp55=) | |
| 15 | g.73329782A>C | CA393094181 | HCN4 | c.1381T>G (p.Trp461Gly) c.163T>G (p.Trp55Gly) | ClinVar |
| 15 | g.73329782A>G | CA393094183 | HCN4 | c.1381T>C (p.Trp461Arg) c.163T>C (p.Trp55Arg) | ClinVar dbSNP |
| 15 | g.73329782A>T | CA393094184 | HCN4 | c.1381T>A (p.Trp461Arg) c.163T>A (p.Trp55Arg) | |
| 15 | g.73329783G>A | CA491151986 | HCN4 | c.1380C>T (p.Ser460=) c.162C>T (p.Ser54=) | gnomAD v4 |
| 15 | g.73329783G>C | CA491151989 | HCN4 | c.1380C>G (p.Ser460=) c.162C>G (p.Ser54=) | |
| 15 | g.73329783G>T | CA491151990 | HCN4 | c.1380C>A (p.Ser460=) c.162C>A (p.Ser54=) | |
| 15 | g.73329784G>A | CA393094189 | HCN4 | c.1379C>T (p.Ser460Phe) c.161C>T (p.Ser54Phe) | |
| 15 | g.73329784G>C | CA393094187 | HCN4 | c.1379C>G (p.Ser460Cys) c.161C>G (p.Ser54Cys) | |
| 15 | g.73329784G= | CA2187167718 | HCN4 | c.1379C= (p.Ser460=) c.161C= (p.Ser54=) | |
| 15 | g.73329784G>T | CA272672183 | HCN4 | c.1379C>A (p.Ser460Tyr) c.161C>A (p.Ser54Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73329785A>C | CA393094190 | HCN4 | c.1378T>G (p.Ser460Ala) c.160T>G (p.Ser54Ala) | |
| 15 | g.73329785A>G | CA393094191 | HCN4 | c.1378T>C (p.Ser460Pro) c.160T>C (p.Ser54Pro) | |
| 15 | g.73329785A>T | CA393094192 | HCN4 | c.1378T>A (p.Ser460Thr) c.160T>A (p.Ser54Thr) | |
| 15 | g.73329786G>A | CA491152000 | HCN4 | c.1377C>T (p.Asn459=) c.159C>T (p.Asn53=) | |
| 15 | g.73329786G>C | CA393094194 | HCN4 | c.1377C>G (p.Asn459Lys) c.159C>G (p.Asn53Lys) | gnomAD v4 |
| 15 | g.73329786G>T | CA393094196 | HCN4 | c.1377C>A (p.Asn459Lys) c.159C>A (p.Asn53Lys) | |
| 15 | g.73329787T>A | CA393094198 | HCN4 | c.1376A>T (p.Asn459Ile) c.158A>T (p.Asn53Ile) | |
| 15 | g.73329787T>C | CA393094200 | HCN4 | c.1376A>G (p.Asn459Ser) c.158A>G (p.Asn53Ser) | |
| 15 | g.73329787T>G | CA393094199 | HCN4 | c.1376A>C (p.Asn459Thr) c.158A>C (p.Asn53Thr) | |
| 15 | g.73329788T>A | CA393094202 | HCN4 | c.1375A>T (p.Asn459Tyr) c.157A>T (p.Asn53Tyr) | |
| 15 | g.73329788T>C | CA393094204 | HCN4 | c.1375A>G (p.Asn459Asp) c.157A>G (p.Asn53Asp) | |
| 15 | g.73329788T>G | CA393094205 | HCN4 | c.1375A>C (p.Asn459His) c.157A>C (p.Asn53His) | |
| 15 | g.73329789G>A | CA491152010 | HCN4 | c.1374C>T (p.Asn458=) c.156C>T (p.Asn52=) | gnomAD v4 |
| 15 | g.73329789G>C | CA393094207 | HCN4 | c.1374C>G (p.Asn458Lys) c.156C>G (p.Asn52Lys) | |
| 15 | g.73329789G>T | CA393094209 | HCN4 | c.1374C>A (p.Asn458Lys) c.156C>A (p.Asn52Lys) | |
| 15 | g.73329790T>A | CA393094211 | HCN4 | c.1373A>T (p.Asn458Ile) c.155A>T (p.Asn52Ile) | |
| 15 | g.73329790T>C | CA393094212 | HCN4 | c.1373A>G (p.Asn458Ser) c.155A>G (p.Asn52Ser) | |
| 15 | g.73329790T>G | CA393094213 | HCN4 | c.1373A>C (p.Asn458Thr) c.155A>C (p.Asn52Thr) | |
| 15 | g.73329791T>A | CA393094214 | HCN4 | c.1372A>T (p.Asn458Tyr) c.154A>T (p.Asn52Tyr) | |
| 15 | g.73329791T>C | CA393094215 | HCN4 | c.1372A>G (p.Asn458Asp) c.154A>G (p.Asn52Asp) | |
| 15 | g.73329791T>G | CA393094216 | HCN4 | c.1372A>C (p.Asn458His) c.154A>C (p.Asn52His) | |
| 15 | g.73329792C>A | CA393094217 | HCN4 | c.1372-1G>T (n.1372-1G>T) c.154-1G>T (n.154-1G>T) | |
| 15 | g.73329792C= | CA2187167723 | HCN4 | c.1372-1G= (n.1372-1G=) c.154-1G= (n.154-1G=) | |
| 15 | g.73329792C>G | CA393094218 | HCN4 | c.1372-1G>C (n.1372-1G>C) c.154-1G>C (n.154-1G>C) | |
| 15 | g.73329792C>T | CA7649303 | HCN4 | c.1372-1G>A (n.1372-1G>A) c.154-1G>A (n.154-1G>A) | dbSNP ExAC gnomAD v2 |
| 15 | g.73329793T>A | CA393094219 | HCN4 | c.1372-2A>T (n.1372-2A>T) c.154-2A>T (n.154-2A>T) | |
| 15 | g.73329793T>C | CA393094221 | HCN4 | c.1372-2A>G (n.1372-2A>G) c.154-2A>G (n.154-2A>G) | |
| 15 | g.73329793T>G | CA393094220 | HCN4 | c.1372-2A>C (n.1372-2A>C) c.154-2A>C (n.154-2A>C) | |
| 15 | g.73329797del | CA2629388588 | HCN4 | c.1372-5del (n.1372-5del) c.154-5del (n.154-5del) | gnomAD v4 |
| 15 | g.73329797G>A | CA619410698 | HCN4 | c.1372-6C>T (n.1372-6C>T) c.154-6C>T (n.154-6C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73329797G= | CA2187167725 | HCN4 | c.1372-6C= (n.1372-6C=) c.154-6C= (n.154-6C=) | |
| 15 | g.73329797G>T | CA2629388589 | HCN4 | c.1372-6C>A (n.1372-6C>A) c.154-6C>A (n.154-6C>A) | gnomAD v4 |
| 15 | g.73329799C= | CA2187167726 | HCN4 | c.1372-8G= (n.1372-8G=) c.154-8G= (n.154-8G=) | |
| 15 | g.73329799C>G | CA619410699 | HCN4 | c.1372-8G>C (n.1372-8G>C) c.154-8G>C (n.154-8G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73329803C= | CA2187167728 | HCN4 | c.1372-12G= (n.1372-12G=) c.154-12G= (n.154-12G=) | |
| 15 | g.73329803C>G | CA2629388590 | HCN4 | c.1372-12G>C (n.1372-12G>C) c.154-12G>C (n.154-12G>C) | gnomAD v4 |
| 15 | g.73329803C>T | CA7649304 | HCN4 | c.1372-12G>A (n.1372-12G>A) c.154-12G>A (n.154-12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73329803_73329804delinsCG | CA2187167727 | HCN4 | c.1372-13_1372-12delinsCG (n.1372-13_1372-12delinsCG) c.154-13_154-12delinsCG (n.154-13_154-12delinsCG) |