Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
20 | g.3083155_3083156delinsGC | CA2346405600 | AVP | c.143_144delinsGC (p.Gly48=) | |
20 | g.3083156C>A | CA121948 | AVP | c.143G>T (p.Gly48Val) | ClinVar dbSNP gnomAD v4 |
20 | g.3083156C= | CA2346405601 | AVP | c.143G= (p.Gly48=) | |
20 | g.3083156C>G | CA408061849 | AVP | c.143G>C (p.Gly48Ala) | dbSNP |
20 | g.3083156C>T | CA408061850 | AVP | c.143G>A (p.Gly48Asp) | gnomAD v4 |
20 | g.3083160dup | CA2651674850 | AVP | c.143dup (p.Lys49GlnfsTer23) | gnomAD v4 |
20 | g.3083160del | CA634328927 | AVP | c.143del (p.Gly48AlafsTer?) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.3083157C>A | CA408061851 | AVP | c.142G>T (p.Gly48Cys) | gnomAD v4 |
20 | g.3083157C>G | CA408061852 | AVP | c.142G>C (p.Gly48Arg) | gnomAD v4 |
20 | g.3083157C>T | CA408061853 | AVP | c.142G>A (p.Gly48Ser) | gnomAD v4 |
20 | g.3083158C>A | CA509554756 | AVP | c.141G>T (p.Gly47=) | gnomAD v4 |
20 | g.3083158C= | CA2346405602 | AVP | c.141G= (p.Gly47=) | |
20 | g.3083158C>G | CA509554755 | AVP | c.141G>C (p.Gly47=) | |
20 | g.3083158C>T | CA509554754 | AVP | c.141G>A (p.Gly47=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.3083159C>A | CA408061855 | AVP | c.140G>T (p.Gly47Val) | gnomAD v4 |
20 | g.3083159C= | CA2346405603 | AVP | c.140G= (p.Gly47=) | |
20 | g.3083159C>G | CA408061856 | AVP | c.140G>C (p.Gly47Ala) | |
20 | g.3083159C>T | CA408061854 | AVP | c.140G>A (p.Gly47Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.3083160C>A | CA9739466 | AVP | c.139G>T (p.Gly47Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.3083160C= | CA2346405604 | AVP | c.139G= (p.Gly47=) | |
20 | g.3083160C>G | CA408061857 | AVP | c.139G>C (p.Gly47Arg) | gnomAD v4 |
20 | g.3083160C>T | CA310943359 | AVP | c.139G>A (p.Gly47Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3083160_3083161insT | CA2651674851 | AVP | c.138_139insA (p.Gly47ArgfsTer25) | gnomAD v4 |
20 | g.3083161G>A | CA509554757 | AVP | c.138C>T (p.Pro46=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3083161G>C | CA509554759 | AVP | c.138C>G (p.Pro46=) | gnomAD v4 |
20 | g.3083161G= | CA2346405605 | AVP | c.138C= (p.Pro46=) | |
20 | g.3083161G>T | CA509554758 | AVP | c.138C>A (p.Pro46=) | gnomAD v4 |
20 | g.3083164dup | CA2815070604 | AVP | c.138dup (p.Gly47ArgfsTer25) | |
20 | g.3083164del | CA2651674852 | AVP | c.138del (p.Gly48AlafsTer?) | gnomAD v4 |
20 | g.3083162G>A | CA9739467 | AVP | c.137C>T (p.Pro46Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3083162G>C | CA408061858 | AVP | c.137C>G (p.Pro46Arg) | |
20 | g.3083162G= | CA2346405606 | AVP | c.137C= (p.Pro46=) | |
20 | g.3083162G>T | CA408061859 | AVP | c.137C>A (p.Pro46His) | gnomAD v4 |
20 | g.3083163G>A | CA408061860 | AVP | c.136C>T (p.Pro46Ser) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.3083163G>C | CA408061861 | AVP | c.136C>G (p.Pro46Ala) |