Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
9 | g.133636639dup | CA591066585 | DBH | c.262dup (p.Ser88PhefsTer7) c.268dup (p.Ser90PhefsTer7) c.226dup (p.Ser76PhefsTer7) | dbSNP gnomAD v2 |
9 | g.133636640C>A | CA375407790 | DBH | c.263C>A (p.Ser88Tyr) c.269C>A (p.Ser90Tyr) c.227C>A (p.Ser76Tyr) | |
9 | g.133636640C>G | CA375407794 | DBH | c.263C>G (p.Ser88Cys) c.269C>G (p.Ser90Cys) c.227C>G (p.Ser76Cys) | gnomAD v4 |
9 | g.133636640C>T | CA375407792 | DBH | c.263C>T (p.Ser88Phe) c.269C>T (p.Ser90Phe) c.227C>T (p.Ser76Phe) | |
9 | g.133636641C>A | CA467611824 | DBH | c.264C>A (p.Ser88=) c.270C>A (p.Ser90=) c.228C>A (p.Ser76=) | |
9 | g.133636641C= | CA1882768067 | DBH | c.264C= (p.Ser88=) c.270C= (p.Ser90=) c.228C= (p.Ser76=) | |
9 | g.133636641C>G | CA467611823 | DBH | c.264C>G (p.Ser88=) c.270C>G (p.Ser90=) c.228C>G (p.Ser76=) | |
9 | g.133636641C>T | CA5312989 | DBH | c.264C>T (p.Ser88=) c.270C>T (p.Ser90=) c.228C>T (p.Ser76=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.133636642G>A | CA5312990 | DBH | c.265G>A (p.Asp89Asn) c.271G>A (p.Asp91Asn) c.229G>A (p.Asp77Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.133636642G>C | CA5312991 | DBH | c.265G>C (p.Asp89His) c.271G>C (p.Asp91His) c.229G>C (p.Asp77His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.133636642G= | CA1882768071 | DBH | c.265G= (p.Asp89=) c.271G= (p.Asp91=) c.229G= (p.Asp77=) | |
9 | g.133636642G>T | CA375407798 | DBH | c.265G>T (p.Asp89Tyr) c.271G>T (p.Asp91Tyr) c.229G>T (p.Asp77Tyr) | gnomAD v4 |
9 | g.133636643A>C | CA375407799 | DBH | c.266A>C (p.Asp89Ala) c.272A>C (p.Asp91Ala) c.230A>C (p.Asp77Ala) | |
9 | g.133636643A>G | CA375407801 | DBH | c.266A>G (p.Asp89Gly) c.272A>G (p.Asp91Gly) c.230A>G (p.Asp77Gly) | |
9 | g.133636643A>T | CA375407803 | DBH | c.266A>T (p.Asp89Val) c.272A>T (p.Asp91Val) c.230A>T (p.Asp77Val) | |
9 | g.133636644C>A | CA375407807 | DBH | c.267C>A (p.Asp89Glu) c.273C>A (p.Asp91Glu) c.231C>A (p.Asp77Glu) | |
9 | g.133636644C>G | CA375407805 | DBH | c.267C>G (p.Asp89Glu) c.273C>G (p.Asp91Glu) c.231C>G (p.Asp77Glu) | |
9 | g.133636644C>T | CA467611832 | DBH | c.267C>T (p.Asp89=) c.273C>T (p.Asp91=) c.231C>T (p.Asp77=) | |
9 | g.133636645C>A | CA5312993 | DBH | c.268C>A (p.Arg90Ser) c.274C>A (p.Arg92Ser) c.232C>A (p.Arg78Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.133636645C= | CA1882768076 | DBH | c.268C= (p.Arg90=) c.274C= (p.Arg92=) c.232C= (p.Arg78=) | |
9 | g.133636645C>G | CA375407810 | DBH | c.268C>G (p.Arg90Gly) c.274C>G (p.Arg92Gly) c.232C>G (p.Arg78Gly) | |
9 | g.133636645C>T | CA5312992 | DBH | c.268C>T (p.Arg90Cys) c.274C>T (p.Arg92Cys) c.232C>T (p.Arg78Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.133636646G>A | CA5312994 | DBH | c.269G>A (p.Arg90His) c.275G>A (p.Arg92His) c.233G>A (p.Arg78His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.133636646G>C | CA375407815 | DBH | c.269G>C (p.Arg90Pro) c.275G>C (p.Arg92Pro) c.233G>C (p.Arg78Pro) | |
9 | g.133636646G= | CA1882768083 | DBH | c.269G= (p.Arg90=) c.275G= (p.Arg92=) c.233G= (p.Arg78=) | |
9 | g.133636646G>T | CA375407817 | DBH | c.269G>T (p.Arg90Leu) c.275G>T (p.Arg92Leu) c.233G>T (p.Arg78Leu) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.133636647T>A | CA467611839 | DBH | c.270T>A (p.Arg90=) c.276T>A (p.Arg92=) c.234T>A (p.Arg78=) | |
9 | g.133636647T>C | CA467611841 | DBH | c.270T>C (p.Arg90=) c.276T>C (p.Arg92=) c.234T>C (p.Arg78=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.133636647T>G | CA467611843 | DBH | c.270T>G (p.Arg90=) c.276T>G (p.Arg92=) c.234T>G (p.Arg78=) | |
9 | g.133636647T= | CA1882768086 | DBH | c.270T= (p.Arg90=) c.276T= (p.Arg92=) c.234T= (p.Arg78=) | |
9 | g.133636648G>A | CA375407818 | DBH | c.271G>A (p.Gly91Ser) c.277G>A (p.Gly93Ser) c.235G>A (p.Gly79Ser) | gnomAD v4 |
9 | g.133636648G>C | CA375407822 | DBH | c.271G>C (p.Gly91Arg) c.277G>C (p.Gly93Arg) c.235G>C (p.Gly79Arg) | |
9 | g.133636648G>T | CA375407820 | DBH | c.271G>T (p.Gly91Cys) c.277G>T (p.Gly93Cys) c.235G>T (p.Gly79Cys) |