Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.3083141A>C | CA408061815 | AVP | c.158T>G (p.Phe53Cys) | |
20 | g.3083141A>G | CA408061816 | AVP | c.158T>C (p.Phe53Ser) | gnomAD v4 |
20 | g.3083141A>T | CA408061817 | AVP | c.158T>A (p.Phe53Tyr) | |
20 | g.3083142A>C | CA408061818 | AVP | c.157T>G (p.Phe53Val) | |
20 | g.3083142A>G | CA408061819 | AVP | c.157T>C (p.Phe53Leu) | gnomAD v4 |
20 | g.3083142A>T | CA408061820 | AVP | c.157T>A (p.Phe53Ile) | |
20 | g.3083143G>A | CA509554744 | AVP | c.156C>T (p.Cys52=) | gnomAD v4 |
20 | g.3083143G>C | CA408061821 | AVP | c.156C>G (p.Cys52Trp) | |
20 | g.3083143G>T | CA408061822 | AVP | c.156C>A (p.Cys52Ter) | gnomAD v4 |
20 | g.3083144C>A | CA408061825 | AVP | c.155G>T (p.Cys52Phe) | gnomAD v4 |
20 | g.3083144C>G | CA408061824 | AVP | c.155G>C (p.Cys52Ser) | |
20 | g.3083144C>T | CA408061823 | AVP | c.155G>A (p.Cys52Tyr) | gnomAD v4 |
20 | g.3083145A>C | CA408061828 | AVP | c.154T>G (p.Cys52Gly) | |
20 | g.3083145A>G | CA408061826 | AVP | c.154T>C (p.Cys52Arg) | gnomAD v4 |
20 | g.3083145A>T | CA408061827 | AVP | c.154T>A (p.Cys52Ser) | |
20 | g.3083146G>A | CA509554745 | AVP | c.153C>T (p.Arg51=) | gnomAD v4 |
20 | g.3083146G>C | CA509554746 | AVP | c.153C>G (p.Arg51=) | |
20 | g.3083146G>T | CA509554747 | AVP | c.153C>A (p.Arg51=) | gnomAD v4 |
20 | g.3083147C>A | CA408061829 | AVP | c.152G>T (p.Arg51Leu) | gnomAD v4 |
20 | g.3083147C>G | CA408061830 | AVP | c.152G>C (p.Arg51Pro) | |
20 | g.3083147C>T | CA408061831 | AVP | c.152G>A (p.Arg51His) | gnomAD v4 |
20 | g.3083148G>A | CA408061832 | AVP | c.151C>T (p.Arg51Cys) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3083148G>C | CA408061833 | AVP | c.151C>G (p.Arg51Gly) | |
20 | g.3083148G= | CA2346405596 | AVP | c.151C= (p.Arg51=) | |
20 | g.3083148G>T | CA408061834 | AVP | c.151C>A (p.Arg51Ser) | gnomAD v4 |
20 | g.3083149G>A | CA509554748 | AVP | c.150C>T (p.Gly50=) | gnomAD v4 |
20 | g.3083149G>C | CA509554749 | AVP | c.150C>G (p.Gly50=) | |
20 | g.3083149G= | CA2346405597 | AVP | c.150C= (p.Gly50=) | |
20 | g.3083149G>T | CA9739465 | AVP | c.150C>A (p.Gly50=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3083150C>A | CA408061835 | AVP | c.149G>T (p.Gly50Val) | gnomAD v4 |
20 | g.3083150C>G | CA408061836 | AVP | c.149G>C (p.Gly50Ala) | |
20 | g.3083150C>T | CA408061837 | AVP | c.149G>A (p.Gly50Asp) | gnomAD v4 |
20 | g.3083151C>A | CA408061839 | AVP | c.148G>T (p.Gly50Cys) | gnomAD v4 |
20 | g.3083151C>G | CA408061840 | AVP | c.148G>C (p.Gly50Arg) | |
20 | g.3083151C>T | CA408061838 | AVP | c.148G>A (p.Gly50Ser) | |
20 | g.3083152T>A | CA408061841 | AVP | c.147A>T (p.Lys49Asn) | gnomAD v4 |
20 | g.3083152T>C | CA509554750 | AVP | c.147A>G (p.Lys49=) | gnomAD v4 |
20 | g.3083152T>G | CA408061842 | AVP | c.147A>C (p.Lys49Asn) | gnomAD v4 |
20 | g.3083154del | CA2651674849 | AVP | c.147del (p.Gly50AlafsTer?) | gnomAD v4 |
20 | g.3083153T>A | CA408061843 | AVP | c.146A>T (p.Lys49Ile) | gnomAD v4 |
20 | g.3083153T>C | CA408061844 | AVP | c.146A>G (p.Lys49Arg) | gnomAD v4 |
20 | g.3083153T>G | CA408061845 | AVP | c.146A>C (p.Lys49Thr) | |
20 | g.3083154T>A | CA408061848 | AVP | c.145A>T (p.Lys49Ter) | |
20 | g.3083154T>C | CA408061846 | AVP | c.145A>G (p.Lys49Glu) | gnomAD v4 |
20 | g.3083154T>G | CA408061847 | AVP | c.145A>C (p.Lys49Gln) | |
20 | g.3083154_3083155delinsTG | CA2346405598 | AVP | c.144_145delinsCA (p.Gly48=) | |
20 | g.3083155del | CA2346405599 | AVP | c.144del (p.Gly50AlafsTer?) | dbSNP |
20 | g.3083155G>A | CA509554752 | AVP | c.144C>T (p.Gly48=) | gnomAD v4 |
20 | g.3083155G>C | CA509554753 | AVP | c.144C>G (p.Gly48=) | |
20 | g.3083155G>T | CA509554751 | AVP | c.144C>A (p.Gly48=) | gnomAD v4 |