Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.4932596C>G | CA2576136018 | CHRNE,GP1BA | c.-6-3C>G (n.-6-3C>G) c.-888+1746G>C (n.-888+1746G>C) | |
17 | g.4932597A= | CA2244625221 | CHRNE,GP1BA | c.-6-2A= (n.-6-2A=) c.-888+1745T= (n.-888+1745T=) | |
17 | g.4932597A>T | CA772700422 | CHRNE,GP1BA | c.-6-2A>T (n.-6-2A>T) c.-888+1745T>A (n.-888+1745T>A) | dbSNP |
17 | g.4932599G>A | CA624856136 | CHRNE,GP1BA | c.-6G>A (n.-6G>A) c.-888+1743C>T (n.-888+1743C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4932599G= | CA2244625222 | CHRNE,GP1BA | c.-6G= (n.-6G=) c.-888+1743C= (n.-888+1743C=) | |
17 | g.4932600T>A | CA2581288664 | CHRNE,GP1BA | c.-5T>A (n.-5T>A) c.-888+1742A>T (n.-888+1742A>T) | |
17 | g.4932600T>C | CA8314674 | CHRNE,GP1BA | c.-5T>C (n.-5T>C) c.-888+1742A>G (n.-888+1742A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4932600T>G | CA2581288663 | CHRNE,GP1BA | c.-5T>G (n.-5T>G) c.-888+1742A>C (n.-888+1742A>C) | |
17 | g.4932600T= | CA2244625223 | CHRNE,GP1BA | c.-5T= (n.-5T=) c.-888+1742A= (n.-888+1742A=) | |
17 | g.4932601C= | CA2244625224 | CHRNE,GP1BA | c.-4C= (n.-4C=) c.-888+1741G= (n.-888+1741G=) | |
17 | g.4932601C>T | CA980986951 | CHRNE,GP1BA | c.-4C>T (n.-4C>T) c.-888+1741G>A (n.-888+1741G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4932602C>G | CA2635578423 | CHRNE,GP1BA | c.-3C>G (n.-3C>G) c.-888+1740G>C (n.-888+1740G>C) | gnomAD v4 |
17 | g.4932602C>T | CA2576136019 | CHRNE,GP1BA | c.-3C>T (n.-3C>T) c.-888+1740G>A (n.-888+1740G>A) | gnomAD v4 |
17 | g.4932603T>C | CA8314675 | CHRNE,GP1BA | c.-2T>C (n.-2T>C) c.-888+1739A>G (n.-888+1739A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4932603T= | CA2244625225 | CHRNE,GP1BA | c.-2T= (n.-2T=) c.-888+1739A= (n.-888+1739A=) | |
17 | g.4932604C>T | CA2635578434 | CHRNE,GP1BA | c.-1C>T (n.-1C>T) c.-888+1738G>A (n.-888+1738G>A) | gnomAD v4 |
17 | g.4932605A= | CA2244625226 | CHRNE,GP1BA | c.1A= (p.Met1=) c.-888+1737T= (n.-888+1737T=) | |
17 | g.4932605A>C | CA397313655 | CHRNE,GP1BA | c.1A>C (p.Met1Leu) c.-888+1737T>G (n.-888+1737T>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4932605A>G | CA397313651 | CHRNE,GP1BA | c.1A>G (p.Met1Val) c.-888+1737T>C (n.-888+1737T>C) | |
17 | g.4932605A>T | CA397313647 | CHRNE,GP1BA | c.1A>T (p.Met1Leu) c.-888+1737T>A (n.-888+1737T>A) | |
17 | g.4932606T>A | CA397313663 | CHRNE,GP1BA | c.2T>A (p.Met1Lys) c.-888+1736A>T (n.-888+1736A>T) | |
17 | g.4932606T>C | CA397313665 | CHRNE,GP1BA | c.2T>C (p.Met1Thr) c.-888+1736A>G (n.-888+1736A>G) | gnomAD v4 |
17 | g.4932606T>G | CA397313669 | CHRNE,GP1BA | c.2T>G (p.Met1Arg) c.-888+1736A>C (n.-888+1736A>C) | |
17 | g.4932607G>A | CA397313674 | CHRNE,GP1BA | c.3G>A (p.Met1Ile) c.-888+1735C>T (n.-888+1735C>T) | |
17 | g.4932607G>C | CA397313681 | CHRNE,GP1BA | c.3G>C (p.Met1Ile) c.-888+1735C>G (n.-888+1735C>G) | |
17 | g.4932607G>T | CA397313684 | CHRNE,GP1BA | c.3G>T (p.Met1Ile) c.-888+1735C>A (n.-888+1735C>A) | gnomAD v4 |
17 | g.4932608C>A | CA397313688 | CHRNE,GP1BA | c.4C>A (p.Pro2Thr) c.-888+1734G>T (n.-888+1734G>T) | |
17 | g.4932608C>G | CA397313701 | CHRNE,GP1BA | c.4C>G (p.Pro2Ala) c.-888+1734G>C (n.-888+1734G>C) | |
17 | g.4932608C>T | CA397313704 | CHRNE,GP1BA | c.4C>T (p.Pro2Ser) c.-888+1734G>A (n.-888+1734G>A) | gnomAD v4 |
17 | g.4932609C>A | CA397313709 | CHRNE,GP1BA | c.5C>A (p.Pro2His) c.-888+1733G>T (n.-888+1733G>T) | |
17 | g.4932609C= | CA2244625227 | CHRNE,GP1BA | c.5C= (p.Pro2=) c.-888+1733G= (n.-888+1733G=) | |
17 | g.4932609C>G | CA397313710 | CHRNE,GP1BA | c.5C>G (p.Pro2Arg) c.-888+1733G>C (n.-888+1733G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4932609C>T | CA397313714 | CHRNE,GP1BA | c.5C>T (p.Pro2Leu) c.-888+1733G>A (n.-888+1733G>A) | |
17 | g.4932610T>A | CA497676898 | CHRNE,GP1BA | c.6T>A (p.Pro2=) c.-888+1732A>T (n.-888+1732A>T) | COSMIC |
17 | g.4932610T>C | CA497676900 | CHRNE,GP1BA | c.6T>C (p.Pro2=) c.-888+1732A>G (n.-888+1732A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4932610T>G | CA497676901 | CHRNE,GP1BA | c.6T>G (p.Pro2=) c.-888+1732A>C (n.-888+1732A>C) | |
17 | g.4932610T= | CA2244625229 | CHRNE,GP1BA | c.6T= (p.Pro2=) c.-888+1732A= (n.-888+1732A=) | |
17 | g.4932610_4932613delinsTCTC | CA2244625228 | CHRNE,GP1BA | c.6_9delinsTCTC (p.Pro2=) c.-888+1729_-888+1732delinsGAGA (n.-888+1729_-888+1732delinsGAGA) | |
17 | g.4932611C>A | CA397313721 | CHRNE,GP1BA | c.7C>A (p.Leu3Ile) c.-888+1731G>T (n.-888+1731G>T) | |
17 | g.4932611C= | CA2244625230 | CHRNE,GP1BA | c.7C= (p.Leu3=) c.-888+1731G= (n.-888+1731G=) | |
17 | g.4932611C>G | CA397313723 | CHRNE,GP1BA | c.7C>G (p.Leu3Val) c.-888+1731G>C (n.-888+1731G>C) | gnomAD v4 |
17 | g.4932611C>T | CA8314677 | CHRNE,GP1BA | c.7C>T (p.Leu3Phe) c.-888+1731G>A (n.-888+1731G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4932617_4932619del | CA8314676 | CHRNE,GP1BA | c.13_15del (p.Leu5del) c.-888+1729_-888+1731del (n.-888+1729_-888+1731del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4932612T>A | CA397313724 | CHRNE,GP1BA | c.8T>A (p.Leu3His) c.-888+1730A>T (n.-888+1730A>T) | |
17 | g.4932612T>C | CA397313725 | CHRNE,GP1BA | c.8T>C (p.Leu3Pro) c.-888+1730A>G (n.-888+1730A>G) | |
17 | g.4932612T>G | CA397313726 | CHRNE,GP1BA | c.8T>G (p.Leu3Arg) c.-888+1730A>C (n.-888+1730A>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4932612T= | CA2244625231 | CHRNE,GP1BA | c.8T= (p.Leu3=) c.-888+1730A= (n.-888+1730A=) | |
17 | g.4932613C>A | CA497676909 | CHRNE,GP1BA | c.9C>A (p.Leu3=) c.-888+1729G>T (n.-888+1729G>T) | |
17 | g.4932613C>G | CA497676911 | CHRNE,GP1BA | c.9C>G (p.Leu3=) c.-888+1729G>C (n.-888+1729G>C) | |
17 | g.4932613C>T | CA497676917 | CHRNE,GP1BA | c.9C>T (p.Leu3=) c.-888+1729G>A (n.-888+1729G>A) | |
17 | g.4932614C>A | CA397313728 | CHRNE,GP1BA | c.10C>A (p.Leu4Ile) c.-888+1728G>T (n.-888+1728G>T) | |
17 | g.4932614C= | CA2244625232 | CHRNE,GP1BA | c.10C= (p.Leu4=) c.-888+1728G= (n.-888+1728G=) | |
17 | g.4932614C>G | CA397313729 | CHRNE,GP1BA | c.10C>G (p.Leu4Val) c.-888+1728G>C (n.-888+1728G>C) | |
17 | g.4932614C>T | CA397313732 | CHRNE,GP1BA | c.10C>T (p.Leu4Phe) c.-888+1728G>A (n.-888+1728G>A) | dbSNP gnomAD v4 |
17 | g.4932615T>A | CA397313735 | CHRNE,GP1BA | c.11T>A (p.Leu4His) c.-888+1727A>T (n.-888+1727A>T) | |
17 | g.4932615T>C | CA397313738 | CHRNE,GP1BA | c.11T>C (p.Leu4Pro) c.-888+1727A>G (n.-888+1727A>G) | |
17 | g.4932615T>G | CA397313740 | CHRNE,GP1BA | c.11T>G (p.Leu4Arg) c.-888+1727A>C (n.-888+1727A>C) | |
17 | g.4932616C>A | CA497676922 | CHRNE,GP1BA | c.12C>A (p.Leu4=) c.-888+1726G>T (n.-888+1726G>T) | |
17 | g.4932616C>G | CA497676923 | CHRNE,GP1BA | c.12C>G (p.Leu4=) c.-888+1726G>C (n.-888+1726G>C) | |
17 | g.4932616C>T | CA497676924 | CHRNE,GP1BA | c.12C>T (p.Leu4=) c.-888+1726G>A (n.-888+1726G>A) | |
17 | g.4932617C>A | CA397313744 | CHRNE,GP1BA | c.13C>A (p.Leu5Ile) c.-888+1725G>T (n.-888+1725G>T) | |
17 | g.4932617C>G | CA397313746 | CHRNE,GP1BA | c.13C>G (p.Leu5Val) c.-888+1725G>C (n.-888+1725G>C) | |
17 | g.4932617C>T | CA397313749 | CHRNE,GP1BA | c.13C>T (p.Leu5Phe) c.-888+1725G>A (n.-888+1725G>A) | |
17 | g.4932618T>A | CA397313760 | CHRNE,GP1BA | c.14T>A (p.Leu5His) c.-888+1724A>T (n.-888+1724A>T) | |
17 | g.4932618T>C | CA397313752 | CHRNE,GP1BA | c.14T>C (p.Leu5Pro) c.-888+1724A>G (n.-888+1724A>G) | |
17 | g.4932618T>G | CA397313756 | CHRNE,GP1BA | c.14T>G (p.Leu5Arg) c.-888+1724A>C (n.-888+1724A>C) | |
17 | g.4932619C>A | CA497676929 | CHRNE,GP1BA | c.15C>A (p.Leu5=) c.-888+1723G>T (n.-888+1723G>T) | |
17 | g.4932619C>G | CA497676932 | CHRNE,GP1BA | c.15C>G (p.Leu5=) c.-888+1723G>C (n.-888+1723G>C) | gnomAD v4 |
17 | g.4932619C>T | CA497676934 | CHRNE,GP1BA | c.15C>T (p.Leu5=) c.-888+1723G>A (n.-888+1723G>A) | |
17 | g.4932620T>A | CA397313761 | CHRNE,GP1BA | c.16T>A (p.Leu6Met) c.-888+1722A>T (n.-888+1722A>T) | |
17 | g.4932620T>C | CA497676936 | CHRNE,GP1BA | c.16T>C (p.Leu6=) c.-888+1722A>G (n.-888+1722A>G) | |
17 | g.4932620T>G | CA397313763 | CHRNE,GP1BA | c.16T>G (p.Leu6Val) c.-888+1722A>C (n.-888+1722A>C) | |
17 | g.4932621T>A | CA397313766 | CHRNE,GP1BA | c.17T>A (p.Leu6Ter) c.-888+1721A>T (n.-888+1721A>T) | |
17 | g.4932621T>C | CA397313770 | CHRNE,GP1BA | c.17T>C (p.Leu6Ser) c.-888+1721A>G (n.-888+1721A>G) | |
17 | g.4932621T>G | CA397313771 | CHRNE,GP1BA | c.17T>G (p.Leu6Trp) c.-888+1721A>C (n.-888+1721A>C) | |
17 | g.4932627_4932635del | CA2695224136 | CHRNE,GP1BA | c.23_31del (p.Leu8_Leu10del) c.-888+1713_-888+1721del (n.-888+1713_-888+1721del) | |
17 | g.4932622G>A | CA497676937 | CHRNE,GP1BA | c.18G>A (p.Leu6=) c.-888+1720C>T (n.-888+1720C>T) | gnomAD v4 |
17 | g.4932622G>C | CA397313772 | CHRNE,GP1BA | c.18G>C (p.Leu6Phe) c.-888+1720C>G (n.-888+1720C>G) | |
17 | g.4932622G>T | CA397313773 | CHRNE,GP1BA | c.18G>T (p.Leu6Phe) c.-888+1720C>A (n.-888+1720C>A) | |
17 | g.4932623C>A | CA397313774 | CHRNE,GP1BA | c.19C>A (p.Leu7Met) c.-888+1719G>T (n.-888+1719G>T) | |
17 | g.4932623C= | CA2244625233 | CHRNE,GP1BA | c.19C= (p.Leu7=) c.-888+1719G= (n.-888+1719G=) | |
17 | g.4932623C>G | CA397313775 | CHRNE,GP1BA | c.19C>G (p.Leu7Val) c.-888+1719G>C (n.-888+1719G>C) | |
17 | g.4932623C>T | CA497676945 | CHRNE,GP1BA | c.19C>T (p.Leu7=) c.-888+1719G>A (n.-888+1719G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4932624T>A | CA397313777 | CHRNE,GP1BA | c.20T>A (p.Leu7Gln) c.-888+1718A>T (n.-888+1718A>T) | |
17 | g.4932624T>C | CA8314678 | CHRNE,GP1BA | c.20T>C (p.Leu7Pro) c.-888+1718A>G (n.-888+1718A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4932624T>G | CA397313779 | CHRNE,GP1BA | c.20T>G (p.Leu7Arg) c.-888+1718A>C (n.-888+1718A>C) | |
17 | g.4932624T= | CA2244625234 | CHRNE,GP1BA | c.20T= (p.Leu7=) c.-888+1718A= (n.-888+1718A=) | |
17 | g.4932625del | CA2573320224 | CHRNE,GP1BA | c.21del (p.Leu8SerfsTer22) c.-888+1717del (n.-888+1717del) | |
17 | g.4932625G>A | CA497676948 | CHRNE,GP1BA | c.21G>A (p.Leu7=) c.-888+1717C>T (n.-888+1717C>T) | |
17 | g.4932625G>C | CA497676952 | CHRNE,GP1BA | c.21G>C (p.Leu7=) c.-888+1717C>G (n.-888+1717C>G) | |
17 | g.4932625G>T | CA497676956 | CHRNE,GP1BA | c.21G>T (p.Leu7=) c.-888+1717C>A (n.-888+1717C>A) | |
17 | g.4932626C>A | CA397313790 | CHRNE,GP1BA | c.22C>A (p.Leu8Ile) c.-888+1716G>T (n.-888+1716G>T) | |
17 | g.4932626C>G | CA397313786 | CHRNE,GP1BA | c.22C>G (p.Leu8Val) c.-888+1716G>C (n.-888+1716G>C) | |
17 | g.4932626C>T | CA397313784 | CHRNE,GP1BA | c.22C>T (p.Leu8Phe) c.-888+1716G>A (n.-888+1716G>A) | gnomAD v4 |
17 | g.4932627T>A | CA397313794 | CHRNE,GP1BA | c.23T>A (p.Leu8His) c.-888+1715A>T (n.-888+1715A>T) | |
17 | g.4932627T>C | CA397313801 | CHRNE,GP1BA | c.23T>C (p.Leu8Pro) c.-888+1715A>G (n.-888+1715A>G) | |
17 | g.4932627T>G | CA397313798 | CHRNE,GP1BA | c.23T>G (p.Leu8Arg) c.-888+1715A>C (n.-888+1715A>C) | |
17 | g.4932628C>A | CA497676965 | CHRNE,GP1BA | c.24C>A (p.Leu8=) c.-888+1714G>T (n.-888+1714G>T) | |
17 | g.4932628C>G | CA497676963 | CHRNE,GP1BA | c.24C>G (p.Leu8=) c.-888+1714G>C (n.-888+1714G>C) | |
17 | g.4932628C>T | CA497676964 | CHRNE,GP1BA | c.24C>T (p.Leu8=) c.-888+1714G>A (n.-888+1714G>A) | gnomAD v4 |
17 | g.4932629C>A | CA397313805 | CHRNE,GP1BA | c.25C>A (p.Leu9Met) c.-888+1713G>T (n.-888+1713G>T) | gnomAD v4 |
17 | g.4932629C>G | CA397313806 | CHRNE,GP1BA | c.25C>G (p.Leu9Val) c.-888+1713G>C (n.-888+1713G>C) | |
17 | g.4932629C>T | CA497676969 | CHRNE,GP1BA | c.25C>T (p.Leu9=) c.-888+1713G>A (n.-888+1713G>A) | |
17 | g.4932630T>A | CA397313807 | CHRNE,GP1BA | c.26T>A (p.Leu9Gln) c.-888+1712A>T (n.-888+1712A>T) | |
17 | g.4932630T>C | CA397313808 | CHRNE,GP1BA | c.26T>C (p.Leu9Pro) c.-888+1712A>G (n.-888+1712A>G) | |
17 | g.4932630T>G | CA397313809 | CHRNE,GP1BA | c.26T>G (p.Leu9Arg) c.-888+1712A>C (n.-888+1712A>C) | |
17 | g.4932631G>A | CA8314679 | CHRNE,GP1BA | c.27G>A (p.Leu9=) c.-888+1711C>T (n.-888+1711C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4932631G>C | CA497676977 | CHRNE,GP1BA | c.27G>C (p.Leu9=) c.-888+1711C>G (n.-888+1711C>G) | |
17 | g.4932631G= | CA2244625235 | CHRNE,GP1BA | c.27G= (p.Leu9=) c.-888+1711C= (n.-888+1711C=) | |
17 | g.4932631G>T | CA497676978 | CHRNE,GP1BA | c.27G>T (p.Leu9=) c.-888+1711C>A (n.-888+1711C>A) | |
17 | g.4932632C>A | CA397313811 | CHRNE,GP1BA | c.28C>A (p.Leu10Met) c.-888+1710G>T (n.-888+1710G>T) | |
17 | g.4932632C>G | CA397313814 | CHRNE,GP1BA | c.28C>G (p.Leu10Val) c.-888+1710G>C (n.-888+1710G>C) | |
17 | g.4932632C>T | CA497676979 | CHRNE,GP1BA | c.28C>T (p.Leu10=) c.-888+1710G>A (n.-888+1710G>A) | |
17 | g.4932633T>A | CA397313817 | CHRNE,GP1BA | c.29T>A (p.Leu10Gln) c.-888+1709A>T (n.-888+1709A>T) | |
17 | g.4932633T>C | CA397313820 | CHRNE,GP1BA | c.29T>C (p.Leu10Pro) c.-888+1709A>G (n.-888+1709A>G) | |
17 | g.4932633T>G | CA397313824 | CHRNE,GP1BA | c.29T>G (p.Leu10Arg) c.-888+1709A>C (n.-888+1709A>C) | |
17 | g.4932634G>A | CA8314680 | CHRNE,GP1BA | c.30G>A (p.Leu10=) c.-888+1708C>T (n.-888+1708C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4932634G>C | CA497676984 | CHRNE,GP1BA | c.30G>C (p.Leu10=) c.-888+1708C>G (n.-888+1708C>G) | |
17 | g.4932634G= | CA2244625236 | CHRNE,GP1BA | c.30G= (p.Leu10=) c.-888+1708C= (n.-888+1708C=) | |
17 | g.4932634G>T | CA497676985 | CHRNE,GP1BA | c.30G>T (p.Leu10=) c.-888+1708C>A (n.-888+1708C>A) | |
17 | g.4932637_4932641del | CA497676986 | CHRNE,GP1BA | c.33_37del (p.Ser12LeufsTer8) c.-888+1704_-888+1708del (n.-888+1704_-888+1708del) | |
17 | g.4932635C>A | CA397313843 | CHRNE,GP1BA | c.31C>A (p.Pro11Thr) c.-888+1707G>T (n.-888+1707G>T) | |
17 | g.4932635C>G | CA397313839 | CHRNE,GP1BA | c.31C>G (p.Pro11Ala) c.-888+1707G>C (n.-888+1707G>C) | |
17 | g.4932635C>T | CA397313841 | CHRNE,GP1BA | c.31C>T (p.Pro11Ser) c.-888+1707G>A (n.-888+1707G>A) | |
17 | g.4932636C>A | CA397313847 | CHRNE,GP1BA | c.32C>A (p.Pro11Gln) c.-888+1706G>T (n.-888+1706G>T) | |
17 | g.4932636C= | CA2244625237 | CHRNE,GP1BA | c.32C= (p.Pro11=) c.-888+1706G= (n.-888+1706G=) | |
17 | g.4932636C>G | CA397313850 | CHRNE,GP1BA | c.32C>G (p.Pro11Arg) c.-888+1706G>C (n.-888+1706G>C) | |
17 | g.4932636C>T | CA8314681 | CHRNE,GP1BA | c.32C>T (p.Pro11Leu) c.-888+1706G>A (n.-888+1706G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4932637A>C | CA497677015 | CHRNE,GP1BA | c.33A>C (p.Pro11=) c.-888+1705T>G (n.-888+1705T>G) | |
17 | g.4932637A>G | CA497677018 | CHRNE,GP1BA | c.33A>G (p.Pro11=) c.-888+1705T>C (n.-888+1705T>C) | |
17 | g.4932637A>T | CA497677020 | CHRNE,GP1BA | c.33A>T (p.Pro11=) c.-888+1705T>A (n.-888+1705T>A) | |
17 | g.4932638A= | CA2244625238 | CHRNE,GP1BA | c.34A= (p.Ser12=) c.-888+1704T= (n.-888+1704T=) | |
17 | g.4932638A>C | CA8314682 | CHRNE,GP1BA | c.34A>C (p.Ser12Arg) c.-888+1704T>G (n.-888+1704T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4932638A>G | CA397313860 | CHRNE,GP1BA | c.34A>G (p.Ser12Gly) c.-888+1704T>C (n.-888+1704T>C) | |
17 | g.4932638A>T | CA397313865 | CHRNE,GP1BA | c.34A>T (p.Ser12Cys) c.-888+1704T>A (n.-888+1704T>A) | |
17 | g.4932639G>A | CA397313869 | CHRNE,GP1BA | c.35G>A (p.Ser12Asn) c.-888+1703C>T (n.-888+1703C>T) | gnomAD v4 |
17 | g.4932639G>C | CA397313872 | CHRNE,GP1BA | c.35G>C (p.Ser12Thr) c.-888+1703C>G (n.-888+1703C>G) | |
17 | g.4932639G>T | CA397313880 | CHRNE,GP1BA | c.35G>T (p.Ser12Ile) c.-888+1703C>A (n.-888+1703C>A) | |
17 | g.4932640C>A | CA287215628 | CHRNE,GP1BA | c.36C>A (p.Ser12Arg) c.-888+1702G>T (n.-888+1702G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4932640C= | CA2244625239 | CHRNE,GP1BA | c.36C= (p.Ser12=) c.-888+1702G= (n.-888+1702G=) | |
17 | g.4932640C>G | CA397313889 | CHRNE,GP1BA | c.36C>G (p.Ser12Arg) c.-888+1702G>C (n.-888+1702G>C) | |
17 | g.4932640C>T | CA497677028 | CHRNE,GP1BA | c.36C>T (p.Ser12=) c.-888+1702G>A (n.-888+1702G>A) | |
17 | g.4932641C>A | CA397313897 | CHRNE,GP1BA | c.37C>A (p.Pro13Thr) c.-888+1701G>T (n.-888+1701G>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4932641C= | CA2244625240 | CHRNE,GP1BA | c.37C= (p.Pro13=) c.-888+1701G= (n.-888+1701G=) | |
17 | g.4932641C>G | CA8314683 | CHRNE,GP1BA | c.37C>G (p.Pro13Ala) c.-888+1701G>C (n.-888+1701G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4932641C>T | CA397313892 | CHRNE,GP1BA | c.37C>T (p.Pro13Ser) c.-888+1701G>A (n.-888+1701G>A) | |
17 | g.4932642C>A | CA397313902 | CHRNE,GP1BA | c.38C>A (p.Pro13His) c.-888+1700G>T (n.-888+1700G>T) | |
17 | g.4932642C>G | CA397313905 | CHRNE,GP1BA | c.38C>G (p.Pro13Arg) c.-888+1700G>C (n.-888+1700G>C) | |
17 | g.4932642C>T | CA397313913 | CHRNE,GP1BA | c.38C>T (p.Pro13Leu) c.-888+1700G>A (n.-888+1700G>A) | |
17 | g.4932643C>A | CA497677038 | CHRNE,GP1BA | c.39C>A (p.Pro13=) c.-888+1699G>T (n.-888+1699G>T) | |
17 | g.4932643C>G | CA497677041 | CHRNE,GP1BA | c.39C>G (p.Pro13=) c.-888+1699G>C (n.-888+1699G>C) | |
17 | g.4932643C>T | CA497677042 | CHRNE,GP1BA | c.39C>T (p.Pro13=) c.-888+1699G>A (n.-888+1699G>A) | COSMIC |
17 | g.4932644T>A | CA397313916 | CHRNE,GP1BA | c.40T>A (p.Leu14Ile) c.-888+1698A>T (n.-888+1698A>T) | |
17 | g.4932644T>C | CA497677043 | CHRNE,GP1BA | c.40T>C (p.Leu14=) c.-888+1698A>G (n.-888+1698A>G) | |
17 | g.4932644T>G | CA397313919 | CHRNE,GP1BA | c.40T>G (p.Leu14Val) c.-888+1698A>C (n.-888+1698A>C) | COSMIC |
17 | g.4932645T>A | CA397313927 | CHRNE,GP1BA | c.41T>A (p.Leu14Ter) c.-888+1697A>T (n.-888+1697A>T) | |
17 | g.4932645T>C | CA397313930 | CHRNE,GP1BA | c.41T>C (p.Leu14Ser) c.-888+1697A>G (n.-888+1697A>G) | |
17 | g.4932645T>G | CA397313933 | CHRNE,GP1BA | c.41T>G (p.Leu14Ter) c.-888+1697A>C (n.-888+1697A>C) | |
17 | g.4932646A>C | CA397313936 | CHRNE,GP1BA | c.42A>C (p.Leu14Phe) c.-888+1696T>G (n.-888+1696T>G) | |
17 | g.4932646A>G | CA497677048 | CHRNE,GP1BA | c.42A>G (p.Leu14=) c.-888+1696T>C (n.-888+1696T>C) | |
17 | g.4932646A>T | CA397313937 | CHRNE,GP1BA | c.42A>T (p.Leu14Phe) c.-888+1696T>A (n.-888+1696T>A) | |
17 | g.4932647C>A | CA397313948 | CHRNE,GP1BA | c.43C>A (p.His15Asn) c.-888+1695G>T (n.-888+1695G>T) | |
17 | g.4932647C= | CA2244625241 | CHRNE,GP1BA | c.43C= (p.His15=) c.-888+1695G= (n.-888+1695G=) | |
17 | g.4932647C>G | CA397313953 | CHRNE,GP1BA | c.43C>G (p.His15Asp) c.-888+1695G>C (n.-888+1695G>C) | |
17 | g.4932647C>T | CA397313960 | CHRNE,GP1BA | c.43C>T (p.His15Tyr) c.-888+1695G>A (n.-888+1695G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4932648A>C | CA397313968 | CHRNE,GP1BA | c.44A>C (p.His15Pro) c.-888+1694T>G (n.-888+1694T>G) | |
17 | g.4932648A>G | CA397313962 | CHRNE,GP1BA | c.44A>G (p.His15Arg) c.-888+1694T>C (n.-888+1694T>C) | dbSNP |
17 | g.4932648A>T | CA397313965 | CHRNE,GP1BA | c.44A>T (p.His15Leu) c.-888+1694T>A (n.-888+1694T>A) | |
17 | g.4932649C>A | CA397313979 | CHRNE,GP1BA | c.45C>A (p.His15Gln) c.-888+1693G>T (n.-888+1693G>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4932649C= | CA2244625242 | CHRNE,GP1BA | c.45C= (p.His15=) c.-888+1693G= (n.-888+1693G=) | |
17 | g.4932649C>G | CA397313984 | CHRNE,GP1BA | c.45C>G (p.His15Gln) c.-888+1693G>C (n.-888+1693G>C) | |
17 | g.4932649C>T | CA287215636 | CHRNE,GP1BA | c.45C>T (p.His15=) c.-888+1693G>A (n.-888+1693G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4932650C>A | CA397313988 | CHRNE,GP1BA | c.46C>A (p.Pro16Thr) c.-888+1692G>T (n.-888+1692G>T) | |
17 | g.4932650C= | CA2244625243 | CHRNE,GP1BA | c.46C= (p.Pro16=) c.-888+1692G= (n.-888+1692G=) | |
17 | g.4932650C>G | CA397313992 | CHRNE,GP1BA | c.46C>G (p.Pro16Ala) c.-888+1692G>C (n.-888+1692G>C) | |
17 | g.4932650C>T | CA397313994 | CHRNE,GP1BA | c.46C>T (p.Pro16Ser) c.-888+1692G>A (n.-888+1692G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4932651C>A | CA397313995 | CHRNE,GP1BA | c.47C>A (p.Pro16His) c.-888+1691G>T (n.-888+1691G>T) | |
17 | g.4932651C>G | CA397313997 | CHRNE,GP1BA | c.47C>G (p.Pro16Arg) c.-888+1691G>C (n.-888+1691G>C) | |
17 | g.4932651C>T | CA397313998 | CHRNE,GP1BA | c.47C>T (p.Pro16Leu) c.-888+1691G>A (n.-888+1691G>A) | |
17 | g.4932652C>A | CA497677062 | CHRNE,GP1BA | c.48C>A (p.Pro16=) c.-888+1690G>T (n.-888+1690G>T) | |
17 | g.4932652C>G | CA497677065 | CHRNE,GP1BA | c.48C>G (p.Pro16=) c.-888+1690G>C (n.-888+1690G>C) | |
17 | g.4932652C>T | CA497677066 | CHRNE,GP1BA | c.48C>T (p.Pro16=) c.-888+1690G>A (n.-888+1690G>A) | |
17 | g.4932653C>A | CA8314684 | CHRNE,GP1BA | c.49C>A (p.His17Asn) c.-888+1689G>T (n.-888+1689G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4932653C= | CA2244625244 | CHRNE,GP1BA | c.49C= (p.His17=) c.-888+1689G= (n.-888+1689G=) | |
17 | g.4932653C>G | CA397314001 | CHRNE,GP1BA | c.49C>G (p.His17Asp) c.-888+1689G>C (n.-888+1689G>C) | |
17 | g.4932653C>T | CA397314002 | CHRNE,GP1BA | c.49C>T (p.His17Tyr) c.-888+1689G>A (n.-888+1689G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4932654A>C | CA397314010 | CHRNE,GP1BA | c.50A>C (p.His17Pro) c.-888+1688T>G (n.-888+1688T>G) | |
17 | g.4932654A>G | CA397314007 | CHRNE,GP1BA | c.50A>G (p.His17Arg) c.-888+1688T>C (n.-888+1688T>C) | |
17 | g.4932654A>T | CA397314005 | CHRNE,GP1BA | c.50A>T (p.His17Leu) c.-888+1688T>A (n.-888+1688T>A) | |
17 | g.4932655C>A | CA8314685 | CHRNE,GP1BA | c.51C>A (p.His17Gln) c.-888+1687G>T (n.-888+1687G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4932655C= | CA2244625245 | CHRNE,GP1BA | c.51C= (p.His17=) c.-888+1687G= (n.-888+1687G=) | |
17 | g.4932655C>G | CA397314015 | CHRNE,GP1BA | c.51C>G (p.His17Gln) c.-888+1687G>C (n.-888+1687G>C) | COSMIC |
17 | g.4932655C>T | CA8314686 | CHRNE,GP1BA | c.51C>T (p.His17=) c.-888+1687G>A (n.-888+1687G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4932658del | CA2576136020 | CHRNE,GP1BA | c.54del (p.Ile19SerfsTer11) c.-888+1687del (n.-888+1687del) | |
17 | g.4932656C>A | CA8314687 | CHRNE,GP1BA | c.52C>A (p.Pro18Thr) c.-888+1686G>T (n.-888+1686G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4932656C= | CA2244625246 | CHRNE,GP1BA | c.52C= (p.Pro18=) c.-888+1686G= (n.-888+1686G=) | |
17 | g.4932656C>G | CA397314019 | CHRNE,GP1BA | c.52C>G (p.Pro18Ala) c.-888+1686G>C (n.-888+1686G>C) | gnomAD v4 |
17 | g.4932656C>T | CA397314020 | CHRNE,GP1BA | c.52C>T (p.Pro18Ser) c.-888+1686G>A (n.-888+1686G>A) | |
17 | g.4932657C>A | CA397314024 | CHRNE,GP1BA | c.53C>A (p.Pro18His) c.-888+1685G>T (n.-888+1685G>T) | |
17 | g.4932657C>G | CA397314031 | CHRNE,GP1BA | c.53C>G (p.Pro18Arg) c.-888+1685G>C (n.-888+1685G>C) | |
17 | g.4932657C>T | CA397314032 | CHRNE,GP1BA | c.53C>T (p.Pro18Leu) c.-888+1685G>A (n.-888+1685G>A) | |
17 | g.4932658C>A | CA497677070 | CHRNE,GP1BA | c.54C>A (p.Pro18=) c.-888+1684G>T (n.-888+1684G>T) | gnomAD v4 |
17 | g.4932658C= | CA2244625247 | CHRNE,GP1BA | c.54C= (p.Pro18=) c.-888+1684G= (n.-888+1684G=) | |
17 | g.4932658C>G | CA497677072 | CHRNE,GP1BA | c.54C>G (p.Pro18=) c.-888+1684G>C (n.-888+1684G>C) | |
17 | g.4932658C>T | CA497677073 | CHRNE,GP1BA | c.54C>T (p.Pro18=) c.-888+1684G>A (n.-888+1684G>A) | dbSNP gnomAD v4 |
17 | g.4932659A>C | CA397314036 | CHRNE,GP1BA | c.55A>C (p.Ile19Leu) c.-888+1683T>G (n.-888+1683T>G) | |
17 | g.4932659A>G | CA397314038 | CHRNE,GP1BA | c.55A>G (p.Ile19Val) c.-888+1683T>C (n.-888+1683T>C) | |
17 | g.4932659A>T | CA397314040 | CHRNE,GP1BA | c.55A>T (p.Ile19Phe) c.-888+1683T>A (n.-888+1683T>A) | |
17 | g.4932660T>A | CA397314043 | CHRNE,GP1BA | c.56T>A (p.Ile19Asn) c.-888+1682A>T (n.-888+1682A>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4932660T>C | CA397314045 | CHRNE,GP1BA | c.56T>C (p.Ile19Thr) c.-888+1682A>G (n.-888+1682A>G) | |
17 | g.4932660T>G | CA397314047 | CHRNE,GP1BA | c.56T>G (p.Ile19Ser) c.-888+1682A>C (n.-888+1682A>C) | |
17 | g.4932660T= | CA2244625248 | CHRNE,GP1BA | c.56T= (p.Ile19=) c.-888+1682A= (n.-888+1682A=) | |
17 | g.4932661C>A | CA497677076 | CHRNE,GP1BA | c.57C>A (p.Ile19=) c.-888+1681G>T (n.-888+1681G>T) | |
17 | g.4932661C>G | CA397314050 | CHRNE,GP1BA | c.57C>G (p.Ile19Met) c.-888+1681G>C (n.-888+1681G>C) | |
17 | g.4932661C>T | CA497677078 | CHRNE,GP1BA | c.57C>T (p.Ile19=) c.-888+1681G>A (n.-888+1681G>A) | |
17 | g.4932662T>A | CA397314061 | CHRNE,GP1BA | c.58T>A (p.Cys20Ser) c.-888+1680A>T (n.-888+1680A>T) | |
17 | g.4932662T>C | CA397314057 | CHRNE,GP1BA | c.58T>C (p.Cys20Arg) c.-888+1680A>G (n.-888+1680A>G) | |
17 | g.4932662T>G | CA397314055 | CHRNE,GP1BA | c.58T>G (p.Cys20Gly) c.-888+1680A>C (n.-888+1680A>C) | ClinVar dbSNP |
17 | g.4932663G>A | CA397314064 | CHRNE,GP1BA | c.59G>A (p.Cys20Tyr) c.-888+1679C>T (n.-888+1679C>T) | dbSNP |
17 | g.4932663G>C | CA397314066 | CHRNE,GP1BA | c.59G>C (p.Cys20Ser) c.-888+1679C>G (n.-888+1679C>G) | |
17 | g.4932663G= | CA2244625249 | CHRNE,GP1BA | c.59G= (p.Cys20=) c.-888+1679C= (n.-888+1679C=) | |
17 | g.4932663G>T | CA397314068 | CHRNE,GP1BA | c.59G>T (p.Cys20Phe) c.-888+1679C>A (n.-888+1679C>A) | |
17 | g.4932664T>A | CA397314073 | CHRNE,GP1BA | c.60T>A (p.Cys20Ter) c.-888+1678A>T (n.-888+1678A>T) | |
17 | g.4932664T>C | CA497677081 | CHRNE,GP1BA | c.60T>C (p.Cys20=) c.-888+1678A>G (n.-888+1678A>G) | |
17 | g.4932664T>G | CA397314075 | CHRNE,GP1BA | c.60T>G (p.Cys20Trp) c.-888+1678A>C (n.-888+1678A>C) | |
17 | g.4932665G>A | CA397314079 | CHRNE,GP1BA | c.61G>A (p.Glu21Lys) c.-888+1677C>T (n.-888+1677C>T) | |
17 | g.4932665G>C | CA397314081 | CHRNE,GP1BA | c.61G>C (p.Glu21Gln) c.-888+1677C>G (n.-888+1677C>G) | COSMIC |
17 | g.4932665G>T | CA397314084 | CHRNE,GP1BA | c.61G>T (p.Glu21Ter) c.-888+1677C>A (n.-888+1677C>A) | |
17 | g.4932666A>C | CA397314086 | CHRNE,GP1BA | c.62A>C (p.Glu21Ala) c.-888+1676T>G (n.-888+1676T>G) | gnomAD v4 |
17 | g.4932666A>G | CA397314089 | CHRNE,GP1BA | c.62A>G (p.Glu21Gly) c.-888+1676T>C (n.-888+1676T>C) | |
17 | g.4932666A>T | CA397314092 | CHRNE,GP1BA | c.62A>T (p.Glu21Val) c.-888+1676T>A (n.-888+1676T>A) | |
17 | g.4932667G>A | CA497677084 | CHRNE,GP1BA | c.63G>A (p.Glu21=) c.-888+1675C>T (n.-888+1675C>T) | |
17 | g.4932667G>C | CA397314095 | CHRNE,GP1BA | c.63G>C (p.Glu21Asp) c.-888+1675C>G (n.-888+1675C>G) | |
17 | g.4932667G>T | CA397314097 | CHRNE,GP1BA | c.63G>T (p.Glu21Asp) c.-888+1675C>A (n.-888+1675C>A) | COSMIC |
17 | g.4932668G>A | CA397314100 | CHRNE,GP1BA | c.64G>A (p.Val22Ile) c.-888+1674C>T (n.-888+1674C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4932668G>C | CA397314103 | CHRNE,GP1BA | c.64G>C (p.Val22Leu) c.-888+1674C>G (n.-888+1674C>G) | |
17 | g.4932668G= | CA2244625250 | CHRNE,GP1BA | c.64G= (p.Val22=) c.-888+1674C= (n.-888+1674C=) | |
17 | g.4932668G>T | CA397314098 | CHRNE,GP1BA | c.64G>T (p.Val22Phe) c.-888+1674C>A (n.-888+1674C>A) | ClinVar |
17 | g.4932669T>A | CA397314106 | CHRNE,GP1BA | c.65T>A (p.Val22Asp) c.-888+1673A>T (n.-888+1673A>T) | dbSNP |
17 | g.4932669T>C | CA8314688 | CHRNE,GP1BA | c.65T>C (p.Val22Ala) c.-888+1673A>G (n.-888+1673A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4932669T>G | CA397314110 | CHRNE,GP1BA | c.65T>G (p.Val22Gly) c.-888+1673A>C (n.-888+1673A>C) | |
17 | g.4932669T= | CA2244625251 | CHRNE,GP1BA | c.65T= (p.Val22=) c.-888+1673A= (n.-888+1673A=) | |
17 | g.4932670C>A | CA497677089 | CHRNE,GP1BA | c.66C>A (p.Val22=) c.-888+1672G>T (n.-888+1672G>T) | |
17 | g.4932670C= | CA2244625252 | CHRNE,GP1BA | c.66C= (p.Val22=) c.-888+1672G= (n.-888+1672G=) | |
17 | g.4932670C>G | CA497677092 | CHRNE,GP1BA | c.66C>G (p.Val22=) c.-888+1672G>C (n.-888+1672G>C) | dbSNP |
17 | g.4932670C>T | CA497677090 | CHRNE,GP1BA | c.66C>T (p.Val22=) c.-888+1672G>A (n.-888+1672G>A) | |
17 | g.4932671T>A | CA397314111 | CHRNE,GP1BA | c.67T>A (p.Ser23Thr) c.-888+1671A>T (n.-888+1671A>T) | |
17 | g.4932671T>C | CA397314112 | CHRNE,GP1BA | c.67T>C (p.Ser23Pro) c.-888+1671A>G (n.-888+1671A>G) | |
17 | g.4932671T>G | CA8314689 | CHRNE,GP1BA | c.67T>G (p.Ser23Ala) c.-888+1671A>C (n.-888+1671A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4932671T= | CA2244625253 | CHRNE,GP1BA | c.67T= (p.Ser23=) c.-888+1671A= (n.-888+1671A=) | |
17 | g.4932672C>A | CA8314690 | CHRNE,GP1BA | c.68C>A (p.Ser23Tyr) c.-888+1670G>T (n.-888+1670G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4932672C= | CA2244625254 | CHRNE,GP1BA | c.68C= (p.Ser23=) c.-888+1670G= (n.-888+1670G=) | |
17 | g.4932672C>G | CA397314115 | CHRNE,GP1BA | c.68C>G (p.Ser23Cys) c.-888+1670G>C (n.-888+1670G>C) | |
17 | g.4932672C>T | CA397314117 | CHRNE,GP1BA | c.68C>T (p.Ser23Phe) c.-888+1670G>A (n.-888+1670G>A) | |
17 | g.4932673C>A | CA497677097 | CHRNE,GP1BA | c.69C>A (p.Ser23=) c.-888+1669G>T (n.-888+1669G>T) | |
17 | g.4932673C>G | CA497677098 | CHRNE,GP1BA | c.69C>G (p.Ser23=) c.-888+1669G>C (n.-888+1669G>C) | |
17 | g.4932673C>T | CA497677099 | CHRNE,GP1BA | c.69C>T (p.Ser23=) c.-888+1669G>A (n.-888+1669G>A) | |
17 | g.4932674A>C | CA397314122 | CHRNE,GP1BA | c.70A>C (p.Lys24Gln) c.-888+1668T>G (n.-888+1668T>G) | |
17 | g.4932674A>G | CA397314126 | CHRNE,GP1BA | c.70A>G (p.Lys24Glu) c.-888+1668T>C (n.-888+1668T>C) | gnomAD v4 |
17 | g.4932674A>T | CA397314128 | CHRNE,GP1BA | c.70A>T (p.Lys24Ter) c.-888+1668T>A (n.-888+1668T>A) | |
17 | g.4932675A>C | CA397314140 | CHRNE,GP1BA | c.71A>C (p.Lys24Thr) c.-888+1667T>G (n.-888+1667T>G) | gnomAD v4 |
17 | g.4932675A>G | CA397314134 | CHRNE,GP1BA | c.71A>G (p.Lys24Arg) c.-888+1667T>C (n.-888+1667T>C) | |
17 | g.4932675A>T | CA397314136 | CHRNE,GP1BA | c.71A>T (p.Lys24Ile) c.-888+1667T>A (n.-888+1667T>A) | |
17 | g.4932676A>C | CA397314143 | CHRNE,GP1BA | c.72A>C (p.Lys24Asn) c.-888+1666T>G (n.-888+1666T>G) | |
17 | g.4932676A>G | CA497677103 | CHRNE,GP1BA | c.72A>G (p.Lys24=) c.-888+1666T>C (n.-888+1666T>C) | |
17 | g.4932676A>T | CA397314146 | CHRNE,GP1BA | c.72A>T (p.Lys24Asn) c.-888+1666T>A (n.-888+1666T>A) | |
17 | g.4932677G>A | CA397314151 | CHRNE,GP1BA | c.73G>A (p.Val25Met) c.-888+1665C>T (n.-888+1665C>T) | |
17 | g.4932677G>C | CA397314154 | CHRNE,GP1BA | c.73G>C (p.Val25Leu) c.-888+1665C>G (n.-888+1665C>G) | |
17 | g.4932677G>T | CA397314157 | CHRNE,GP1BA | c.73G>T (p.Val25Leu) c.-888+1665C>A (n.-888+1665C>A) | |
17 | g.4932678T>A | CA397314158 | CHRNE,GP1BA | c.74T>A (p.Val25Glu) c.-888+1664A>T (n.-888+1664A>T) | |
17 | g.4932678T>C | CA397314161 | CHRNE,GP1BA | c.74T>C (p.Val25Ala) c.-888+1664A>G (n.-888+1664A>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4932678T>G | CA397314166 | CHRNE,GP1BA | c.74T>G (p.Val25Gly) c.-888+1664A>C (n.-888+1664A>C) | |
17 | g.4932678T= | CA2244625255 | CHRNE,GP1BA | c.74T= (p.Val25=) c.-888+1664A= (n.-888+1664A=) | |
17 | g.4932679G>A | CA497677106 | CHRNE,GP1BA | c.75G>A (p.Val25=) c.-888+1663C>T (n.-888+1663C>T) | gnomAD v4 |
17 | g.4932679G>C | CA497677107 | CHRNE,GP1BA | c.75G>C (p.Val25=) c.-888+1663C>G (n.-888+1663C>G) | |
17 | g.4932679G>T | CA497677108 | CHRNE,GP1BA | c.75G>T (p.Val25=) c.-888+1663C>A (n.-888+1663C>A) | |
17 | g.4932680G>A | CA397314172 | CHRNE,GP1BA | c.76G>A (p.Ala26Thr) c.-888+1662C>T (n.-888+1662C>T) | |
17 | g.4932680G>C | CA397314175 | CHRNE,GP1BA | c.76G>C (p.Ala26Pro) c.-888+1662C>G (n.-888+1662C>G) | |
17 | g.4932680G>T | CA397314178 | CHRNE,GP1BA | c.76G>T (p.Ala26Ser) c.-888+1662C>A (n.-888+1662C>A) | |
17 | g.4932681C>A | CA397314192 | CHRNE,GP1BA | c.77C>A (p.Ala26Asp) c.-888+1661G>T (n.-888+1661G>T) | |
17 | g.4932681C= | CA2244625256 | CHRNE,GP1BA | c.77C= (p.Ala26=) c.-888+1661G= (n.-888+1661G=) | |
17 | g.4932681C>G | CA8314691 | CHRNE,GP1BA | c.77C>G (p.Ala26Gly) c.-888+1661G>C (n.-888+1661G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4932681C>T | CA397314181 | CHRNE,GP1BA | c.77C>T (p.Ala26Val) c.-888+1661G>A (n.-888+1661G>A) | |
17 | g.4932682C>A | CA497677114 | CHRNE,GP1BA | c.78C>A (p.Ala26=) c.-888+1660G>T (n.-888+1660G>T) | |
17 | g.4932682C>G | CA497677117 | CHRNE,GP1BA | c.78C>G (p.Ala26=) c.-888+1660G>C (n.-888+1660G>C) | |
17 | g.4932682C>T | CA497677116 | CHRNE,GP1BA | c.78C>T (p.Ala26=) c.-888+1660G>A (n.-888+1660G>A) | |
17 | g.4932683A>C | CA397314199 | CHRNE,GP1BA | c.79A>C (p.Ser27Arg) c.-888+1659T>G (n.-888+1659T>G) | |
17 | g.4932683A>G | CA397314202 | CHRNE,GP1BA | c.79A>G (p.Ser27Gly) c.-888+1659T>C (n.-888+1659T>C) | |
17 | g.4932683A>T | CA397314205 | CHRNE,GP1BA | c.79A>T (p.Ser27Cys) c.-888+1659T>A (n.-888+1659T>A) | |
17 | g.4932684G>A | CA397314207 | CHRNE,GP1BA | c.80G>A (p.Ser27Asn) c.-888+1658C>T (n.-888+1658C>T) | COSMIC |
17 | g.4932684G>C | CA397314209 | CHRNE,GP1BA | c.80G>C (p.Ser27Thr) c.-888+1658C>G (n.-888+1658C>G) | |
17 | g.4932684G>T | CA397314210 | CHRNE,GP1BA | c.80G>T (p.Ser27Ile) c.-888+1658C>A (n.-888+1658C>A) | |
17 | g.4932685C>A | CA397314211 | CHRNE,GP1BA | c.81C>A (p.Ser27Arg) c.-888+1657G>T (n.-888+1657G>T) | |
17 | g.4932685C>G | CA397314214 | CHRNE,GP1BA | c.81C>G (p.Ser27Arg) c.-888+1657G>C (n.-888+1657G>C) | |
17 | g.4932685C>T | CA497677122 | CHRNE,GP1BA | c.81C>T (p.Ser27=) c.-888+1657G>A (n.-888+1657G>A) | |
17 | g.4932686C>A | CA397314217 | CHRNE,GP1BA | c.82C>A (p.His28Asn) c.-888+1656G>T (n.-888+1656G>T) | |
17 | g.4932686C>G | CA397314218 | CHRNE,GP1BA | c.82C>G (p.His28Asp) c.-888+1656G>C (n.-888+1656G>C) | |
17 | g.4932686C>T | CA397314220 | CHRNE,GP1BA | c.82C>T (p.His28Tyr) c.-888+1656G>A (n.-888+1656G>A) | |
17 | g.4932687A>C | CA397314223 | CHRNE,GP1BA | c.83A>C (p.His28Pro) c.-888+1655T>G (n.-888+1655T>G) | |
17 | g.4932687A>G | CA397314226 | CHRNE,GP1BA | c.83A>G (p.His28Arg) c.-888+1655T>C (n.-888+1655T>C) | gnomAD v4 |
17 | g.4932687A>T | CA397314232 | CHRNE,GP1BA | c.83A>T (p.His28Leu) c.-888+1655T>A (n.-888+1655T>A) | |
17 | g.4932688C>A | CA397314238 | CHRNE,GP1BA | c.84C>A (p.His28Gln) c.-888+1654G>T (n.-888+1654G>T) | |
17 | g.4932688C= | CA2244625257 | CHRNE,GP1BA | c.84C= (p.His28=) c.-888+1654G= (n.-888+1654G=) | |
17 | g.4932688C>G | CA397314235 | CHRNE,GP1BA | c.84C>G (p.His28Gln) c.-888+1654G>C (n.-888+1654G>C) | |
17 | g.4932688C>T | CA497677131 | CHRNE,GP1BA | c.84C>T (p.His28=) c.-888+1654G>A (n.-888+1654G>A) | dbSNP gnomAD v2 |
17 | g.4932689C>A | CA397314240 | CHRNE,GP1BA | c.85C>A (p.Leu29Ile) c.-888+1653G>T (n.-888+1653G>T) | |
17 | g.4932689C>G | CA397314241 | CHRNE,GP1BA | c.85C>G (p.Leu29Val) c.-888+1653G>C (n.-888+1653G>C) | |
17 | g.4932689C>T | CA497677134 | CHRNE,GP1BA | c.85C>T (p.Leu29=) c.-888+1653G>A (n.-888+1653G>A) | |
17 | g.4932690T>A | CA397314243 | CHRNE,GP1BA | c.86T>A (p.Leu29Gln) c.-888+1652A>T (n.-888+1652A>T) | |
17 | g.4932690T>C | CA397314245 | CHRNE,GP1BA | c.86T>C (p.Leu29Pro) c.-888+1652A>G (n.-888+1652A>G) | |
17 | g.4932690T>G | CA397314248 | CHRNE,GP1BA | c.86T>G (p.Leu29Arg) c.-888+1652A>C (n.-888+1652A>C) | |
17 | g.4932691A>C | CA497677135 | CHRNE,GP1BA | c.87A>C (p.Leu29=) c.-888+1651T>G (n.-888+1651T>G) | |
17 | g.4932691A>G | CA497677136 | CHRNE,GP1BA | c.87A>G (p.Leu29=) c.-888+1651T>C (n.-888+1651T>C) | |
17 | g.4932691A>T | CA497677137 | CHRNE,GP1BA | c.87A>T (p.Leu29=) c.-888+1651T>A (n.-888+1651T>A) | |
17 | g.4932692G>A | CA397314266 | CHRNE,GP1BA | c.88G>A (p.Glu30Lys) c.-888+1650C>T (n.-888+1650C>T) | |
17 | g.4932692G>C | CA397314261 | CHRNE,GP1BA | c.88G>C (p.Glu30Gln) c.-888+1650C>G (n.-888+1650C>G) | COSMIC |
17 | g.4932692G>T | CA397314257 | CHRNE,GP1BA | c.88G>T (p.Glu30Ter) c.-888+1650C>A (n.-888+1650C>A) | |
17 | g.4932693A>C | CA397314271 | CHRNE,GP1BA | c.89A>C (p.Glu30Ala) c.-888+1649T>G (n.-888+1649T>G) | |
17 | g.4932693A>G | CA397314273 | CHRNE,GP1BA | c.89A>G (p.Glu30Gly) c.-888+1649T>C (n.-888+1649T>C) | |
17 | g.4932693A>T | CA397314275 | CHRNE,GP1BA | c.89A>T (p.Glu30Val) c.-888+1649T>A (n.-888+1649T>A) | |
17 | g.4932694A= | CA2244625258 | CHRNE,GP1BA | c.90A= (p.Glu30=) c.-888+1648T= (n.-888+1648T=) | |
17 | g.4932694A>C | CA397314280 | CHRNE,GP1BA | c.90A>C (p.Glu30Asp) c.-888+1648T>G (n.-888+1648T>G) | |
17 | g.4932694A>G | CA8314692 | CHRNE,GP1BA | c.90A>G (p.Glu30=) c.-888+1648T>C (n.-888+1648T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4932694A>T | CA397314292 | CHRNE,GP1BA | c.90A>T (p.Glu30Asp) c.-888+1648T>A (n.-888+1648T>A) | |
17 | g.4932695G>A | CA397314297 | CHRNE,GP1BA | c.91G>A (p.Val31Met) c.-888+1647C>T (n.-888+1647C>T) | |
17 | g.4932695G>C | CA397314302 | CHRNE,GP1BA | c.91G>C (p.Val31Leu) c.-888+1647C>G (n.-888+1647C>G) | |
17 | g.4932695G>T | CA397314300 | CHRNE,GP1BA | c.91G>T (p.Val31Leu) c.-888+1647C>A (n.-888+1647C>A) |