Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.46853536G>A | CA413038915 | RP2 | c.163G>A (p.Gly55Arg) | ClinVar dbSNP |
X | g.46853536G>C | CA413038916 | RP2 | c.163G>C (p.Gly55Arg) | |
X | g.46853536G= | CA2427731354 | RP2 | c.163G= (p.Gly55=) | |
X | g.46853536G>T | CA413038917 | RP2 | c.163G>T (p.Gly55Trp) | |
X | g.46853536_46853547delinsGGGACGGTAGCA | CA2427731353 | RP2 | c.163_174delinsGGGACGGTAGCA (p.Gly55=) | |
X | g.46853537G>A | CA413038918 | RP2 | c.164G>A (p.Gly55Glu) | |
X | g.46853537G>C | CA413038919 | RP2 | c.164G>C (p.Gly55Ala) | |
X | g.46853537G>T | CA413038920 | RP2 | c.164G>T (p.Gly55Val) | ClinVar |
X | g.46853541_46853551del | CA916083938 | RP2 | c.168_178del (p.Val57ThrfsTer8) | ClinVar dbSNP |
X | g.46853538G>A | CA516254717 | RP2 | c.165G>A (p.Gly55=) | |
X | g.46853538G>C | CA516254719 | RP2 | c.165G>C (p.Gly55=) | |
X | g.46853538G>T | CA516254722 | RP2 | c.165G>T (p.Gly55=) | COSMIC |
X | g.46853539A>C | CA413038921 | RP2 | c.166A>C (p.Thr56Pro) | |
X | g.46853539A>G | CA413038923 | RP2 | c.166A>G (p.Thr56Ala) | gnomAD v4 |
X | g.46853539A>T | CA413038922 | RP2 | c.166A>T (p.Thr56Ser) | |
X | g.46853540C>A | CA413038924 | RP2 | c.167C>A (p.Thr56Lys) | gnomAD v4 |
X | g.46853540C= | CA2427731355 | RP2 | c.167C= (p.Thr56=) | |
X | g.46853540C>G | CA413038925 | RP2 | c.167C>G (p.Thr56Arg) | ClinVar |
X | g.46853540C>T | CA413038926 | RP2 | c.167C>T (p.Thr56Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.46853541G>A | CA10394189 | RP2 | c.168G>A (p.Thr56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.46853541G>C | CA516254739 | RP2 | c.168G>C (p.Thr56=) | |
X | g.46853541G= | CA2427731356 | RP2 | c.168G= (p.Thr56=) | |
X | g.46853541G>T | CA10394188 | RP2 | c.168G>T (p.Thr56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.46853542G>A | CA413038927 | RP2 | c.169G>A (p.Val57Ile) | |
X | g.46853542G>C | CA413038928 | RP2 | c.169G>C (p.Val57Leu) | |
X | g.46853542G>T | CA413038929 | RP2 | c.169G>T (p.Val57Leu) | |
X | g.46853543T>A | CA413038930 | RP2 | c.170T>A (p.Val57Glu) | |
X | g.46853543T>C | CA413038931 | RP2 | c.170T>C (p.Val57Ala) | ClinVar gnomAD v4 |
X | g.46853543T>G | CA413038932 | RP2 | c.170T>G (p.Val57Gly) | |
X | g.46853544A= | CA2427731357 | RP2 | c.171A= (p.Val57=) | |
X | g.46853544A>C | CA516254755 | RP2 | c.171A>C (p.Val57=) | |
X | g.46853544A>G | CA516254757 | RP2 | c.171A>G (p.Val57=) | dbSNP gnomAD v4 |
X | g.46853544A>T | CA516254760 | RP2 | c.171A>T (p.Val57=) | |
X | g.46853545G>A | CA413038935 | RP2 | c.172G>A (p.Ala58Thr) | |
X | g.46853545G>C | CA413038934 | RP2 | c.172G>C (p.Ala58Pro) | gnomAD v4 |
X | g.46853545G>T | CA413038933 | RP2 | c.172G>T (p.Ala58Ser) | |
X | g.46853546C>A | CA413038936 | RP2 | c.173C>A (p.Ala58Glu) | |
X | g.46853546C>G | CA413038938 | RP2 | c.173C>G (p.Ala58Gly) | |
X | g.46853546C>T | CA413038937 | RP2 | c.173C>T (p.Ala58Val) | |
X | g.46853547A>C | CA516254766 | RP2 | c.174A>C (p.Ala58=) | |
X | g.46853547A>G | CA516254769 | RP2 | c.174A>G (p.Ala58=) | |
X | g.46853547A>T | CA516254772 | RP2 | c.174A>T (p.Ala58=) | |
X | g.46853548G>A | CA413038939 | RP2 | c.175G>A (p.Gly59Arg) | |
X | g.46853548G>C | CA413038940 | RP2 | c.175G>C (p.Gly59Arg) | |
X | g.46853548G>T | CA413038941 | RP2 | c.175G>T (p.Gly59Ter) | ClinVar dbSNP |
X | g.46853549G>A | CA413038942 | RP2 | c.176G>A (p.Gly59Glu) | |
X | g.46853549G>C | CA413038943 | RP2 | c.176G>C (p.Gly59Ala) | |
X | g.46853549G>T | CA413038944 | RP2 | c.176G>T (p.Gly59Val) | |
X | g.46853550A= | CA2427731358 | RP2 | c.177A= (p.Gly59=) | |
X | g.46853550A>C | CA516254780 | RP2 | c.177A>C (p.Gly59=) | dbSNP |