Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.36663475T>A | CA389467126 | PAX9 | c.583T>A (p.Ser195Thr) c.22T>A (p.Ser8Thr) | |
14 | g.36663475T>C | CA389467128 | PAX9 | c.583T>C (p.Ser195Pro) c.22T>C (p.Ser8Pro) | |
14 | g.36663475T>G | CA389467127 | PAX9 | c.583T>G (p.Ser195Ala) c.22T>G (p.Ser8Ala) | |
14 | g.36663476C>A | CA389467129 | PAX9 | c.584C>A (p.Ser195Ter) c.23C>A (p.Ser8Ter) | |
14 | g.36663476C= | CA2129503001 | PAX9 | c.584C= (p.Ser195=) c.23C= (p.Ser8=) | |
14 | g.36663476C>G | CA389467130 | PAX9 | c.584C>G (p.Ser195Trp) c.23C>G (p.Ser8Trp) | |
14 | g.36663476C>T | CA7159002 | PAX9 | c.584C>T (p.Ser195Leu) c.23C>T (p.Ser8Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.36663477G>A | CA485930897 | PAX9 | c.585G>A (p.Ser195=) c.24G>A (p.Ser8=) | dbSNP gnomAD v2 |
14 | g.36663477G>C | CA485930896 | PAX9 | c.585G>C (p.Ser195=) c.24G>C (p.Ser8=) | |
14 | g.36663477G= | CA2129503003 | PAX9 | c.585G= (p.Ser195=) c.24G= (p.Ser8=) | |
14 | g.36663477G>T | CA485930895 | PAX9 | c.585G>T (p.Ser195=) c.24G>T (p.Ser8=) | |
14 | g.36663478C>A | CA389467131 | PAX9 | c.586C>A (p.His196Asn) c.25C>A (p.His9Asn) | |
14 | g.36663478C= | CA2129503006 | PAX9 | c.586C= (p.His196=) c.25C= (p.His9=) | |
14 | g.36663478C>G | CA389467132 | PAX9 | c.586C>G (p.His196Asp) c.25C>G (p.His9Asp) | |
14 | g.36663478C>T | CA7159003 | PAX9 | c.586C>T (p.His196Tyr) c.25C>T (p.His9Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.36663479A>C | CA389467133 | PAX9 | c.587A>C (p.His196Pro) c.26A>C (p.His9Pro) | |
14 | g.36663479A>G | CA389467134 | PAX9 | c.587A>G (p.His196Arg) c.26A>G (p.His9Arg) | |
14 | g.36663479A>T | CA389467135 | PAX9 | c.587A>T (p.His196Leu) c.26A>T (p.His9Leu) | |
14 | g.36663480C>A | CA389467136 | PAX9 | c.588C>A (p.His196Gln) c.27C>A (p.His9Gln) | |
14 | g.36663480C= | CA2129503009 | PAX9 | c.588C= (p.His196=) c.27C= (p.His9=) | |
14 | g.36663480C>G | CA389467137 | PAX9 | c.588C>G (p.His196Gln) c.27C>G (p.His9Gln) | gnomAD v4 |
14 | g.36663480C>T | CA485930898 | PAX9 | c.588C>T (p.His196=) c.27C>T (p.His9=) | dbSNP gnomAD v4 |
14 | g.36663481T>A | CA389467138 | PAX9 | c.589T>A (p.Ser197Thr) c.28T>A (p.Ser10Thr) | |
14 | g.36663481T>C | CA258926778 | PAX9 | c.589T>C (p.Ser197Pro) c.28T>C (p.Ser10Pro) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.36663481T>G | CA389467139 | PAX9 | c.589T>G (p.Ser197Ala) c.28T>G (p.Ser10Ala) | gnomAD v4 |
14 | g.36663481T= | CA2129503012 | PAX9 | c.589T= (p.Ser197=) c.28T= (p.Ser10=) | |
14 | g.36663482C>A | CA389467140 | PAX9 | c.590C>A (p.Ser197Tyr) c.29C>A (p.Ser10Tyr) | |
14 | g.36663482C>G | CA389467141 | PAX9 | c.590C>G (p.Ser197Cys) c.29C>G (p.Ser10Cys) | |
14 | g.36663482C>T | CA389467142 | PAX9 | c.590C>T (p.Ser197Phe) c.29C>T (p.Ser10Phe) | |
14 | g.36663485_36663490dup | CA7159004 | PAX9 | c.593_598dup (p.Thr199_Asp200insValThr) c.32_37dup (p.Thr12_Asp13insValThr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.36663483C>A | CA485930899 | PAX9 | c.591C>A (p.Ser197=) c.30C>A (p.Ser10=) | dbSNP gnomAD v4 |
14 | g.36663483C= | CA2129503023 | PAX9 | c.591C= (p.Ser197=) c.30C= (p.Ser10=) | |
14 | g.36663483C>G | CA485930900 | PAX9 | c.591C>G (p.Ser197=) c.30C>G (p.Ser10=) | |
14 | g.36663483C>T | CA7159005 | PAX9 | c.591C>T (p.Ser197=) c.30C>T (p.Ser10=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.36663484_36663488dup | CA2695212821 | PAX9 | c.592_596dup (p.Asp200SerfsTer14) c.31_35dup (p.Asp13SerfsTer14) | |
14 | g.36663484del | CA2695212822 | PAX9 | c.592del (p.Val198SerfsTer14) c.31del (p.Val11SerfsTer14) | |
14 | g.36663484G>A | CA389467143 | PAX9 | c.592G>A (p.Val198Ile) c.31G>A (p.Val11Ile) | gnomAD v4 |
14 | g.36663484G>C | CA389467144 | PAX9 | c.592G>C (p.Val198Leu) c.31G>C (p.Val11Leu) | |
14 | g.36663484G>T | CA389467145 | PAX9 | c.592G>T (p.Val198Phe) c.31G>T (p.Val11Phe) | |
14 | g.36663485T>A | CA389467146 | PAX9 | c.593T>A (p.Val198Asp) c.32T>A (p.Val11Asp) | |
14 | g.36663485T>C | CA389467147 | PAX9 | c.593T>C (p.Val198Ala) c.32T>C (p.Val11Ala) | |
14 | g.36663485T>G | CA389467148 | PAX9 | c.593T>G (p.Val198Gly) c.32T>G (p.Val11Gly) | |
14 | g.36663485_36663488dup | CA2580088078 | PAX9 | c.593_596dup (p.Asp200HisfsTer?) c.32_35dup (p.Asp13HisfsTer?) | ClinVar |
14 | g.36663486C>A | CA485930901 | PAX9 | c.594C>A (p.Val198=) c.33C>A (p.Val11=) | gnomAD v4 |
14 | g.36663486C>G | CA485930902 | PAX9 | c.594C>G (p.Val198=) c.33C>G (p.Val11=) | |
14 | g.36663486C>T | CA485930903 | PAX9 | c.594C>T (p.Val198=) c.33C>T (p.Val11=) | |
14 | g.36663487A>C | CA389467151 | PAX9 | c.595A>C (p.Thr199Pro) c.34A>C (p.Thr12Pro) | |
14 | g.36663487A>G | CA389467150 | PAX9 | c.595A>G (p.Thr199Ala) c.34A>G (p.Thr12Ala) | |
14 | g.36663487A>T | CA389467149 | PAX9 | c.595A>T (p.Thr199Ser) c.34A>T (p.Thr12Ser) | |
14 | g.36663488C>A | CA389467152 | PAX9 | c.596C>A (p.Thr199Asn) c.35C>A (p.Thr12Asn) |