Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.133636626C>A | CA467611781 | DBH | c.249C>A (p.Val83=) c.255C>A (p.Val85=) c.213C>A (p.Val71=) | |
9 | g.133636626C>G | CA467611779 | DBH | c.249C>G (p.Val83=) c.255C>G (p.Val85=) c.213C>G (p.Val71=) | gnomAD v4 |
9 | g.133636626C>T | CA467611777 | DBH | c.249C>T (p.Val83=) c.255C>T (p.Val85=) c.213C>T (p.Val71=) | |
9 | g.133636627C>A | CA375407736 | DBH | c.250C>A (p.Leu84Met) c.256C>A (p.Leu86Met) c.214C>A (p.Leu72Met) | |
9 | g.133636627C>G | CA375407738 | DBH | c.250C>G (p.Leu84Val) c.256C>G (p.Leu86Val) c.214C>G (p.Leu72Val) | gnomAD v4 |
9 | g.133636627C>T | CA467611783 | DBH | c.250C>T (p.Leu84=) c.256C>T (p.Leu86=) c.214C>T (p.Leu72=) | gnomAD v4 |
9 | g.133636628T>A | CA375407740 | DBH | c.251T>A (p.Leu84Gln) c.257T>A (p.Leu86Gln) c.215T>A (p.Leu72Gln) | gnomAD v4 |
9 | g.133636628T>C | CA375407744 | DBH | c.251T>C (p.Leu84Pro) c.257T>C (p.Leu86Pro) c.215T>C (p.Leu72Pro) | dbSNP gnomAD v4 |
9 | g.133636628T>G | CA375407742 | DBH | c.251T>G (p.Leu84Arg) c.257T>G (p.Leu86Arg) c.215T>G (p.Leu72Arg) | |
9 | g.133636628T= | CA1882768034 | DBH | c.251T= (p.Leu84=) c.257T= (p.Leu86=) c.215T= (p.Leu72=) | |
9 | g.133636629G>A | CA467611789 | DBH | c.252G>A (p.Leu84=) c.258G>A (p.Leu86=) c.216G>A (p.Leu72=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.133636629G>C | CA200951865 | DBH | c.252G>C (p.Leu84=) c.258G>C (p.Leu86=) c.216G>C (p.Leu72=) | dbSNP gnomAD v4 |
9 | g.133636629G= | CA1882768036 | DBH | c.252G= (p.Leu84=) c.258G= (p.Leu86=) c.216G= (p.Leu72=) | |
9 | g.133636629G>T | CA467611792 | DBH | c.252G>T (p.Leu84=) c.258G>T (p.Leu86=) c.216G>T (p.Leu72=) | |
9 | g.133636630T>A | CA375407747 | DBH | c.253T>A (p.Phe85Ile) c.259T>A (p.Phe87Ile) c.217T>A (p.Phe73Ile) | |
9 | g.133636630T>C | CA5312985 | DBH | c.253T>C (p.Phe85Leu) c.259T>C (p.Phe87Leu) c.217T>C (p.Phe73Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.133636630T>G | CA375407749 | DBH | c.253T>G (p.Phe85Val) c.259T>G (p.Phe87Val) c.217T>G (p.Phe73Val) | dbSNP |
9 | g.133636630T= | CA1882768042 | DBH | c.253T= (p.Phe85=) c.259T= (p.Phe87=) c.217T= (p.Phe73=) | |
9 | g.133636631T>A | CA200951877 | DBH | c.254T>A (p.Phe85Tyr) c.260T>A (p.Phe87Tyr) c.218T>A (p.Phe73Tyr) | dbSNP gnomAD v4 |
9 | g.133636631T>C | CA375407751 | DBH | c.254T>C (p.Phe85Ser) c.260T>C (p.Phe87Ser) c.218T>C (p.Phe73Ser) | |
9 | g.133636631T>G | CA375407753 | DBH | c.254T>G (p.Phe85Cys) c.260T>G (p.Phe87Cys) c.218T>G (p.Phe73Cys) | |
9 | g.133636631T= | CA1882768048 | DBH | c.254T= (p.Phe85=) c.260T= (p.Phe87=) c.218T= (p.Phe73=) | |
9 | g.133636632T>A | CA375407755 | DBH | c.255T>A (p.Phe85Leu) c.261T>A (p.Phe87Leu) c.219T>A (p.Phe73Leu) | |
9 | g.133636632T>C | CA467611797 | DBH | c.255T>C (p.Phe85=) c.261T>C (p.Phe87=) c.219T>C (p.Phe73=) | |
9 | g.133636632T>G | CA375407756 | DBH | c.255T>G (p.Phe85Leu) c.261T>G (p.Phe87Leu) c.219T>G (p.Phe73Leu) | |
9 | g.133636633G>A | CA375407757 | DBH | c.256G>A (p.Gly86Arg) c.262G>A (p.Gly88Arg) c.220G>A (p.Gly74Arg) | |
9 | g.133636633G>C | CA5312986 | DBH | c.256G>C (p.Gly86Arg) c.262G>C (p.Gly88Arg) c.220G>C (p.Gly74Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.133636633G= | CA1882768051 | DBH | c.256G= (p.Gly86=) c.262G= (p.Gly88=) c.220G= (p.Gly74=) | |
9 | g.133636633G>T | CA375407759 | DBH | c.256G>T (p.Gly86Trp) c.262G>T (p.Gly88Trp) c.220G>T (p.Gly74Trp) | |
9 | g.133636634G>A | CA375407765 | DBH | c.257G>A (p.Gly86Glu) c.263G>A (p.Gly88Glu) c.221G>A (p.Gly74Glu) | |
9 | g.133636634G>C | CA5312987 | DBH | c.257G>C (p.Gly86Ala) c.263G>C (p.Gly88Ala) c.221G>C (p.Gly74Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.133636634G= | CA1882768054 | DBH | c.257G= (p.Gly86=) c.263G= (p.Gly88=) c.221G= (p.Gly74=) | |
9 | g.133636634G>T | CA375407761 | DBH | c.257G>T (p.Gly86Val) c.263G>T (p.Gly88Val) c.221G>T (p.Gly74Val) | |
9 | g.133636635G>A | CA467611803 | DBH | c.258G>A (p.Gly86=) c.264G>A (p.Gly88=) c.222G>A (p.Gly74=) | gnomAD v4 COSMIC |
9 | g.133636635G>C | CA467611805 | DBH | c.258G>C (p.Gly86=) c.264G>C (p.Gly88=) c.222G>C (p.Gly74=) | |
9 | g.133636635G>T | CA467611806 | DBH | c.258G>T (p.Gly86=) c.264G>T (p.Gly88=) c.222G>T (p.Gly74=) | |
9 | g.133636636A>C | CA375407767 | DBH | c.259A>C (p.Met87Leu) c.265A>C (p.Met89Leu) c.223A>C (p.Met75Leu) | |
9 | g.133636636A>G | CA375407768 | DBH | c.259A>G (p.Met87Val) c.265A>G (p.Met89Val) c.223A>G (p.Met75Val) | |
9 | g.133636636A>T | CA375407770 | DBH | c.259A>T (p.Met87Leu) c.265A>T (p.Met89Leu) c.223A>T (p.Met75Leu) | |
9 | g.133636637T>A | CA5312988 | DBH | c.260T>A (p.Met87Lys) c.266T>A (p.Met89Lys) c.224T>A (p.Met75Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.133636637T>C | CA375407773 | DBH | c.260T>C (p.Met87Thr) c.266T>C (p.Met89Thr) c.224T>C (p.Met75Thr) | |
9 | g.133636637T>G | CA375407775 | DBH | c.260T>G (p.Met87Arg) c.266T>G (p.Met89Arg) c.224T>G (p.Met75Arg) | |
9 | g.133636637T= | CA1882768059 | DBH | c.260T= (p.Met87=) c.266T= (p.Met89=) c.224T= (p.Met75=) | |
9 | g.133636638G>A | CA375407778 | DBH | c.261G>A (p.Met87Ile) c.267G>A (p.Met89Ile) c.225G>A (p.Met75Ile) | |
9 | g.133636638G>C | CA375407780 | DBH | c.261G>C (p.Met87Ile) c.267G>C (p.Met89Ile) c.225G>C (p.Met75Ile) | |
9 | g.133636638G= | CA1882768062 | DBH | c.261G= (p.Met87=) c.267G= (p.Met89=) c.225G= (p.Met75=) | |
9 | g.133636638G>T | CA375407782 | DBH | c.261G>T (p.Met87Ile) c.267G>T (p.Met89Ile) c.225G>T (p.Met75Ile) | gnomAD v4 |
9 | g.133636639T>A | CA375407784 | DBH | c.262T>A (p.Ser88Thr) c.268T>A (p.Ser90Thr) c.226T>A (p.Ser76Thr) | |
9 | g.133636639T>C | CA375407786 | DBH | c.262T>C (p.Ser88Pro) c.268T>C (p.Ser90Pro) c.226T>C (p.Ser76Pro) | |
9 | g.133636639T>G | CA375407788 | DBH | c.262T>G (p.Ser88Ala) c.268T>G (p.Ser90Ala) c.226T>G (p.Ser76Ala) |