| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37125330G>A | CA277713 | CPLANE1 | n.1871C>T c.8872C>T (p.Arg2958Ter) n.733C>T c.8710C>T (p.Arg2904Ter) c.5884C>T (n.5884C>T) n.4053C>T n.342-3546C>T c.5908C>T (p.Arg1970Ter) c.8869C>T (p.Arg2957Ter) c.8761C>T (p.Arg2921Ter) c.8743C>T (p.Arg2915Ter) c.5515C>T (p.Arg1839Ter) c.3445C>T (p.Arg1149Ter) c.8818C>T (p.Arg2940Ter) c.8764C>T (p.Arg2922Ter) c.8554C>T (p.Arg2852Ter) c.8200C>T (p.Arg2734Ter) c.6097C>T (p.Arg2033Ter) n.9047C>T c.8683C>T (p.Arg2895Ter) c.7879C>T (p.Arg2627Ter) c.7684C>T (p.Arg2562Ter) n.9096C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37125330G>C | CA359499156 | CPLANE1 | n.1871C>G c.8872C>G (p.Arg2958Gly) n.733C>G c.8710C>G (p.Arg2904Gly) c.5884C>G (n.5884C>G) n.4053C>G n.342-3546C>G c.5908C>G (p.Arg1970Gly) c.8869C>G (p.Arg2957Gly) c.8761C>G (p.Arg2921Gly) c.8743C>G (p.Arg2915Gly) c.5515C>G (p.Arg1839Gly) c.3445C>G (p.Arg1149Gly) c.8818C>G (p.Arg2940Gly) c.8764C>G (p.Arg2922Gly) c.8554C>G (p.Arg2852Gly) c.8200C>G (p.Arg2734Gly) c.6097C>G (p.Arg2033Gly) n.9047C>G c.8683C>G (p.Arg2895Gly) c.7879C>G (p.Arg2627Gly) c.7684C>G (p.Arg2562Gly) n.9096C>G | |
| 5 | g.37125330G= | CA1539667657 | CPLANE1 | n.1871C= c.8872C= (p.Arg2958=) n.733C= c.8710C= (p.Arg2904=) c.5884C= (n.5884C=) n.4053C= n.342-3546C= c.5908C= (p.Arg1970=) c.8869C= (p.Arg2957=) c.8761C= (p.Arg2921=) c.8743C= (p.Arg2915=) c.5515C= (p.Arg1839=) c.3445C= (p.Arg1149=) c.8818C= (p.Arg2940=) c.8764C= (p.Arg2922=) c.8554C= (p.Arg2852=) c.8200C= (p.Arg2734=) c.6097C= (p.Arg2033=) n.9047C= c.8683C= (p.Arg2895=) c.7879C= (p.Arg2627=) c.7684C= (p.Arg2562=) n.9096C= | |
| 5 | g.37125330G>T | CA443922028 | CPLANE1 | n.1871C>A c.8872C>A (p.Arg2958=) n.733C>A c.8710C>A (p.Arg2904=) c.5884C>A (n.5884C>A) n.4053C>A n.342-3546C>A c.5908C>A (p.Arg1970=) c.8869C>A (p.Arg2957=) c.8761C>A (p.Arg2921=) c.8743C>A (p.Arg2915=) c.5515C>A (p.Arg1839=) c.3445C>A (p.Arg1149=) c.8818C>A (p.Arg2940=) c.8764C>A (p.Arg2922=) c.8554C>A (p.Arg2852=) c.8200C>A (p.Arg2734=) c.6097C>A (p.Arg2033=) n.9047C>A c.8683C>A (p.Arg2895=) c.7879C>A (p.Arg2627=) c.7684C>A (p.Arg2562=) n.9096C>A | dbSNP |
| 5 | g.37125331T>A | CA359499160 | CPLANE1 | n.1870A>T c.8871A>T (p.Lys2957Asn) n.732A>T c.8709A>T (p.Lys2903Asn) c.5883A>T (n.5883A>T) n.4052A>T n.342-3547A>T c.5907A>T (p.Lys1969Asn) c.8868A>T (p.Lys2956Asn) c.8760A>T (p.Lys2920Asn) c.8742A>T (p.Lys2914Asn) c.5514A>T (p.Lys1838Asn) c.3444A>T (p.Lys1148Asn) c.8817A>T (p.Lys2939Asn) c.8763A>T (p.Lys2921Asn) c.8553A>T (p.Lys2851Asn) c.8199A>T (p.Lys2733Asn) c.6096A>T (p.Lys2032Asn) n.9046A>T c.8682A>T (p.Lys2894Asn) c.7878A>T (p.Lys2626Asn) c.7683A>T (p.Lys2561Asn) n.9095A>T | |
| 5 | g.37125331T>C | CA443922029 | CPLANE1 | n.1870A>G c.8871A>G (p.Lys2957=) n.732A>G c.8709A>G (p.Lys2903=) c.5883A>G (n.5883A>G) n.4052A>G n.342-3547A>G c.5907A>G (p.Lys1969=) c.8868A>G (p.Lys2956=) c.8760A>G (p.Lys2920=) c.8742A>G (p.Lys2914=) c.5514A>G (p.Lys1838=) c.3444A>G (p.Lys1148=) c.8817A>G (p.Lys2939=) c.8763A>G (p.Lys2921=) c.8553A>G (p.Lys2851=) c.8199A>G (p.Lys2733=) c.6096A>G (p.Lys2032=) n.9046A>G c.8682A>G (p.Lys2894=) c.7878A>G (p.Lys2626=) c.7683A>G (p.Lys2561=) n.9095A>G | |
| 5 | g.37125331T>G | CA359499163 | CPLANE1 | n.1870A>C c.8871A>C (p.Lys2957Asn) n.732A>C c.8709A>C (p.Lys2903Asn) c.5883A>C (n.5883A>C) n.4052A>C n.342-3547A>C c.5907A>C (p.Lys1969Asn) c.8868A>C (p.Lys2956Asn) c.8760A>C (p.Lys2920Asn) c.8742A>C (p.Lys2914Asn) c.5514A>C (p.Lys1838Asn) c.3444A>C (p.Lys1148Asn) c.8817A>C (p.Lys2939Asn) c.8763A>C (p.Lys2921Asn) c.8553A>C (p.Lys2851Asn) c.8199A>C (p.Lys2733Asn) c.6096A>C (p.Lys2032Asn) n.9046A>C c.8682A>C (p.Lys2894Asn) c.7878A>C (p.Lys2626Asn) c.7683A>C (p.Lys2561Asn) n.9095A>C | |
| 5 | g.37125332T>A | CA359499166 | CPLANE1 | n.1869A>T c.8870A>T (p.Lys2957Ile) n.731A>T c.8708A>T (p.Lys2903Ile) c.5882A>T (n.5882A>T) n.4051A>T n.342-3548A>T c.5906A>T (p.Lys1969Ile) c.8867A>T (p.Lys2956Ile) c.8759A>T (p.Lys2920Ile) c.8741A>T (p.Lys2914Ile) c.5513A>T (p.Lys1838Ile) c.3443A>T (p.Lys1148Ile) c.8816A>T (p.Lys2939Ile) c.8762A>T (p.Lys2921Ile) c.8552A>T (p.Lys2851Ile) c.8198A>T (p.Lys2733Ile) c.6095A>T (p.Lys2032Ile) n.9045A>T c.8681A>T (p.Lys2894Ile) c.7877A>T (p.Lys2626Ile) c.7682A>T (p.Lys2561Ile) n.9094A>T | |
| 5 | g.37125332T>C | CA359499177 | CPLANE1 | n.1869A>G c.8870A>G (p.Lys2957Arg) n.731A>G c.8708A>G (p.Lys2903Arg) c.5882A>G (n.5882A>G) n.4051A>G n.342-3548A>G c.5906A>G (p.Lys1969Arg) c.8867A>G (p.Lys2956Arg) c.8759A>G (p.Lys2920Arg) c.8741A>G (p.Lys2914Arg) c.5513A>G (p.Lys1838Arg) c.3443A>G (p.Lys1148Arg) c.8816A>G (p.Lys2939Arg) c.8762A>G (p.Lys2921Arg) c.8552A>G (p.Lys2851Arg) c.8198A>G (p.Lys2733Arg) c.6095A>G (p.Lys2032Arg) n.9045A>G c.8681A>G (p.Lys2894Arg) c.7877A>G (p.Lys2626Arg) c.7682A>G (p.Lys2561Arg) n.9094A>G | ClinVar dbSNP gnomAD v4 |
| 5 | g.37125332T>G | CA359499181 | CPLANE1 | n.1869A>C c.8870A>C (p.Lys2957Thr) n.731A>C c.8708A>C (p.Lys2903Thr) c.5882A>C (n.5882A>C) n.4051A>C n.342-3548A>C c.5906A>C (p.Lys1969Thr) c.8867A>C (p.Lys2956Thr) c.8759A>C (p.Lys2920Thr) c.8741A>C (p.Lys2914Thr) c.5513A>C (p.Lys1838Thr) c.3443A>C (p.Lys1148Thr) c.8816A>C (p.Lys2939Thr) c.8762A>C (p.Lys2921Thr) c.8552A>C (p.Lys2851Thr) c.8198A>C (p.Lys2733Thr) c.6095A>C (p.Lys2032Thr) n.9045A>C c.8681A>C (p.Lys2894Thr) c.7877A>C (p.Lys2626Thr) c.7682A>C (p.Lys2561Thr) n.9094A>C | |
| 5 | g.37125333T>A | CA359499187 | CPLANE1 | n.1868A>T c.8869A>T (p.Lys2957Ter) n.730A>T c.8707A>T (p.Lys2903Ter) c.5881A>T (n.5881A>T) n.4050A>T n.342-3549A>T c.5905A>T (p.Lys1969Ter) c.8866A>T (p.Lys2956Ter) c.8758A>T (p.Lys2920Ter) c.8740A>T (p.Lys2914Ter) c.5512A>T (p.Lys1838Ter) c.3442A>T (p.Lys1148Ter) c.8815A>T (p.Lys2939Ter) c.8761A>T (p.Lys2921Ter) c.8551A>T (p.Lys2851Ter) c.8197A>T (p.Lys2733Ter) c.6094A>T (p.Lys2032Ter) n.9044A>T c.8680A>T (p.Lys2894Ter) c.7876A>T (p.Lys2626Ter) c.7681A>T (p.Lys2561Ter) n.9093A>T | |
| 5 | g.37125333T>C | CA359499189 | CPLANE1 | n.1868A>G c.8869A>G (p.Lys2957Glu) n.730A>G c.8707A>G (p.Lys2903Glu) c.5881A>G (n.5881A>G) n.4050A>G n.342-3549A>G c.5905A>G (p.Lys1969Glu) c.8866A>G (p.Lys2956Glu) c.8758A>G (p.Lys2920Glu) c.8740A>G (p.Lys2914Glu) c.5512A>G (p.Lys1838Glu) c.3442A>G (p.Lys1148Glu) c.8815A>G (p.Lys2939Glu) c.8761A>G (p.Lys2921Glu) c.8551A>G (p.Lys2851Glu) c.8197A>G (p.Lys2733Glu) c.6094A>G (p.Lys2032Glu) n.9044A>G c.8680A>G (p.Lys2894Glu) c.7876A>G (p.Lys2626Glu) c.7681A>G (p.Lys2561Glu) n.9093A>G | |
| 5 | g.37125333T>G | CA359499194 | CPLANE1 | n.1868A>C c.8869A>C (p.Lys2957Gln) n.730A>C c.8707A>C (p.Lys2903Gln) c.5881A>C (n.5881A>C) n.4050A>C n.342-3549A>C c.5905A>C (p.Lys1969Gln) c.8866A>C (p.Lys2956Gln) c.8758A>C (p.Lys2920Gln) c.8740A>C (p.Lys2914Gln) c.5512A>C (p.Lys1838Gln) c.3442A>C (p.Lys1148Gln) c.8815A>C (p.Lys2939Gln) c.8761A>C (p.Lys2921Gln) c.8551A>C (p.Lys2851Gln) c.8197A>C (p.Lys2733Gln) c.6094A>C (p.Lys2032Gln) n.9044A>C c.8680A>C (p.Lys2894Gln) c.7876A>C (p.Lys2626Gln) c.7681A>C (p.Lys2561Gln) n.9093A>C | |
| 5 | g.37125334T>A | CA359499203 | CPLANE1 | n.1867A>T c.8868A>T (p.Arg2956Ser) n.729A>T c.8706A>T (p.Arg2902Ser) c.5880A>T (n.5880A>T) n.4049A>T n.342-3550A>T c.5904A>T (p.Arg1968Ser) c.8865A>T (p.Arg2955Ser) c.8757A>T (p.Arg2919Ser) c.8739A>T (p.Arg2913Ser) c.5511A>T (p.Arg1837Ser) c.3441A>T (p.Arg1147Ser) c.8814A>T (p.Arg2938Ser) c.8760A>T (p.Arg2920Ser) c.8550A>T (p.Arg2850Ser) c.8196A>T (p.Arg2732Ser) c.6093A>T (p.Arg2031Ser) n.9043A>T c.8679A>T (p.Arg2893Ser) c.7875A>T (p.Arg2625Ser) c.7680A>T (p.Arg2560Ser) n.9092A>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37125334T>C | CA443922031 | CPLANE1 | n.1867A>G c.8868A>G (p.Arg2956=) n.729A>G c.8706A>G (p.Arg2902=) c.5880A>G (n.5880A>G) n.4049A>G n.342-3550A>G c.5904A>G (p.Arg1968=) c.8865A>G (p.Arg2955=) c.8757A>G (p.Arg2919=) c.8739A>G (p.Arg2913=) c.5511A>G (p.Arg1837=) c.3441A>G (p.Arg1147=) c.8814A>G (p.Arg2938=) c.8760A>G (p.Arg2920=) c.8550A>G (p.Arg2850=) c.8196A>G (p.Arg2732=) c.6093A>G (p.Arg2031=) n.9043A>G c.8679A>G (p.Arg2893=) c.7875A>G (p.Arg2625=) c.7680A>G (p.Arg2560=) n.9092A>G | |
| 5 | g.37125334T>G | CA359499213 | CPLANE1 | n.1867A>C c.8868A>C (p.Arg2956Ser) n.729A>C c.8706A>C (p.Arg2902Ser) c.5880A>C (n.5880A>C) n.4049A>C n.342-3550A>C c.5904A>C (p.Arg1968Ser) c.8865A>C (p.Arg2955Ser) c.8757A>C (p.Arg2919Ser) c.8739A>C (p.Arg2913Ser) c.5511A>C (p.Arg1837Ser) c.3441A>C (p.Arg1147Ser) c.8814A>C (p.Arg2938Ser) c.8760A>C (p.Arg2920Ser) c.8550A>C (p.Arg2850Ser) c.8196A>C (p.Arg2732Ser) c.6093A>C (p.Arg2031Ser) n.9043A>C c.8679A>C (p.Arg2893Ser) c.7875A>C (p.Arg2625Ser) c.7680A>C (p.Arg2560Ser) n.9092A>C | |
| 5 | g.37125334T= | CA1539667660 | CPLANE1 | n.1867A= c.8868A= (p.Arg2956=) n.729A= c.8706A= (p.Arg2902=) c.5880A= (n.5880A=) n.4049A= n.342-3550A= c.5904A= (p.Arg1968=) c.8865A= (p.Arg2955=) c.8757A= (p.Arg2919=) c.8739A= (p.Arg2913=) c.5511A= (p.Arg1837=) c.3441A= (p.Arg1147=) c.8814A= (p.Arg2938=) c.8760A= (p.Arg2920=) c.8550A= (p.Arg2850=) c.8196A= (p.Arg2732=) c.6093A= (p.Arg2031=) n.9043A= c.8679A= (p.Arg2893=) c.7875A= (p.Arg2625=) c.7680A= (p.Arg2560=) n.9092A= | |
| 5 | g.37125335C>A | CA359499219 | CPLANE1 | n.1866G>T c.8867G>T (p.Arg2956Ile) n.728G>T c.8705G>T (p.Arg2902Ile) c.5879G>T (n.5879G>T) n.4048G>T n.342-3551G>T c.5903G>T (p.Arg1968Ile) c.8864G>T (p.Arg2955Ile) c.8756G>T (p.Arg2919Ile) c.8738G>T (p.Arg2913Ile) c.5510G>T (p.Arg1837Ile) c.3440G>T (p.Arg1147Ile) c.8813G>T (p.Arg2938Ile) c.8759G>T (p.Arg2920Ile) c.8549G>T (p.Arg2850Ile) c.8195G>T (p.Arg2732Ile) c.6092G>T (p.Arg2031Ile) n.9042G>T c.8678G>T (p.Arg2893Ile) c.7874G>T (p.Arg2625Ile) c.7679G>T (p.Arg2560Ile) n.9091G>T | |
| 5 | g.37125335C>G | CA359499220 | CPLANE1 | n.1866G>C c.8867G>C (p.Arg2956Thr) n.728G>C c.8705G>C (p.Arg2902Thr) c.5879G>C (n.5879G>C) n.4048G>C n.342-3551G>C c.5903G>C (p.Arg1968Thr) c.8864G>C (p.Arg2955Thr) c.8756G>C (p.Arg2919Thr) c.8738G>C (p.Arg2913Thr) c.5510G>C (p.Arg1837Thr) c.3440G>C (p.Arg1147Thr) c.8813G>C (p.Arg2938Thr) c.8759G>C (p.Arg2920Thr) c.8549G>C (p.Arg2850Thr) c.8195G>C (p.Arg2732Thr) c.6092G>C (p.Arg2031Thr) n.9042G>C c.8678G>C (p.Arg2893Thr) c.7874G>C (p.Arg2625Thr) c.7679G>C (p.Arg2560Thr) n.9091G>C | |
| 5 | g.37125335C>T | CA359499223 | CPLANE1 | n.1866G>A c.8867G>A (p.Arg2956Lys) n.728G>A c.8705G>A (p.Arg2902Lys) c.5879G>A (n.5879G>A) n.4048G>A n.342-3551G>A c.5903G>A (p.Arg1968Lys) c.8864G>A (p.Arg2955Lys) c.8756G>A (p.Arg2919Lys) c.8738G>A (p.Arg2913Lys) c.5510G>A (p.Arg1837Lys) c.3440G>A (p.Arg1147Lys) c.8813G>A (p.Arg2938Lys) c.8759G>A (p.Arg2920Lys) c.8549G>A (p.Arg2850Lys) c.8195G>A (p.Arg2732Lys) c.6092G>A (p.Arg2031Lys) n.9042G>A c.8678G>A (p.Arg2893Lys) c.7874G>A (p.Arg2625Lys) c.7679G>A (p.Arg2560Lys) n.9091G>A | |
| 5 | g.37125336T>A | CA359499225 | CPLANE1 | n.1865A>T c.8866A>T (p.Arg2956Ter) n.727A>T c.8704A>T (p.Arg2902Ter) c.5878A>T (n.5878A>T) n.4047A>T n.342-3552A>T c.5902A>T (p.Arg1968Ter) c.8863A>T (p.Arg2955Ter) c.8755A>T (p.Arg2919Ter) c.8737A>T (p.Arg2913Ter) c.5509A>T (p.Arg1837Ter) c.3439A>T (p.Arg1147Ter) c.8812A>T (p.Arg2938Ter) c.8758A>T (p.Arg2920Ter) c.8548A>T (p.Arg2850Ter) c.8194A>T (p.Arg2732Ter) c.6091A>T (p.Arg2031Ter) n.9041A>T c.8677A>T (p.Arg2893Ter) c.7873A>T (p.Arg2625Ter) c.7678A>T (p.Arg2560Ter) n.9035A>T n.9090A>T | |
| 5 | g.37125336T>C | CA359499228 | CPLANE1 | n.1865A>G c.8866A>G (p.Arg2956Gly) n.727A>G c.8704A>G (p.Arg2902Gly) c.5878A>G (n.5878A>G) n.4047A>G n.342-3552A>G c.5902A>G (p.Arg1968Gly) c.8863A>G (p.Arg2955Gly) c.8755A>G (p.Arg2919Gly) c.8737A>G (p.Arg2913Gly) c.5509A>G (p.Arg1837Gly) c.3439A>G (p.Arg1147Gly) c.8812A>G (p.Arg2938Gly) c.8758A>G (p.Arg2920Gly) c.8548A>G (p.Arg2850Gly) c.8194A>G (p.Arg2732Gly) c.6091A>G (p.Arg2031Gly) n.9041A>G c.8677A>G (p.Arg2893Gly) c.7873A>G (p.Arg2625Gly) c.7678A>G (p.Arg2560Gly) n.9035A>G n.9090A>G | gnomAD v4 |
| 5 | g.37125336T>G | CA443922035 | CPLANE1 | n.1865A>C c.8866A>C (p.Arg2956=) n.727A>C c.8704A>C (p.Arg2902=) c.5878A>C (n.5878A>C) n.4047A>C n.342-3552A>C c.5902A>C (p.Arg1968=) c.8863A>C (p.Arg2955=) c.8755A>C (p.Arg2919=) c.8737A>C (p.Arg2913=) c.5509A>C (p.Arg1837=) c.3439A>C (p.Arg1147=) c.8812A>C (p.Arg2938=) c.8758A>C (p.Arg2920=) c.8548A>C (p.Arg2850=) c.8194A>C (p.Arg2732=) c.6091A>C (p.Arg2031=) n.9041A>C c.8677A>C (p.Arg2893=) c.7873A>C (p.Arg2625=) c.7678A>C (p.Arg2560=) n.9035A>C n.9090A>C | |
| 5 | g.37125337T>A | CA359499229 | CPLANE1 | n.1864A>T c.8865A>T (p.Lys2955Asn) n.726A>T c.8703A>T (p.Lys2901Asn) c.5877A>T (n.5877A>T) n.4046A>T n.342-3553A>T c.5901A>T (p.Lys1967Asn) c.8862A>T (p.Lys2954Asn) c.8754A>T (p.Lys2918Asn) c.8736A>T (p.Lys2912Asn) c.5508A>T (p.Lys1836Asn) c.3438A>T (p.Lys1146Asn) c.8811A>T (p.Lys2937Asn) c.8757A>T (p.Lys2919Asn) c.8547A>T (p.Lys2849Asn) c.8193A>T (p.Lys2731Asn) c.6090A>T (p.Lys2030Asn) n.9040A>T c.8676A>T (p.Lys2892Asn) c.7872A>T (p.Lys2624Asn) c.7677A>T (p.Lys2559Asn) n.9034A>T n.9089A>T | |
| 5 | g.37125337T>C | CA443922037 | CPLANE1 | n.1864A>G c.8865A>G (p.Lys2955=) n.726A>G c.8703A>G (p.Lys2901=) c.5877A>G (n.5877A>G) n.4046A>G n.342-3553A>G c.5901A>G (p.Lys1967=) c.8862A>G (p.Lys2954=) c.8754A>G (p.Lys2918=) c.8736A>G (p.Lys2912=) c.5508A>G (p.Lys1836=) c.3438A>G (p.Lys1146=) c.8811A>G (p.Lys2937=) c.8757A>G (p.Lys2919=) c.8547A>G (p.Lys2849=) c.8193A>G (p.Lys2731=) c.6090A>G (p.Lys2030=) n.9040A>G c.8676A>G (p.Lys2892=) c.7872A>G (p.Lys2624=) c.7677A>G (p.Lys2559=) n.9034A>G n.9089A>G | |
| 5 | g.37125337T>G | CA359499231 | CPLANE1 | n.1864A>C c.8865A>C (p.Lys2955Asn) n.726A>C c.8703A>C (p.Lys2901Asn) c.5877A>C (n.5877A>C) n.4046A>C n.342-3553A>C c.5901A>C (p.Lys1967Asn) c.8862A>C (p.Lys2954Asn) c.8754A>C (p.Lys2918Asn) c.8736A>C (p.Lys2912Asn) c.5508A>C (p.Lys1836Asn) c.3438A>C (p.Lys1146Asn) c.8811A>C (p.Lys2937Asn) c.8757A>C (p.Lys2919Asn) c.8547A>C (p.Lys2849Asn) c.8193A>C (p.Lys2731Asn) c.6090A>C (p.Lys2030Asn) n.9040A>C c.8676A>C (p.Lys2892Asn) c.7872A>C (p.Lys2624Asn) c.7677A>C (p.Lys2559Asn) n.9034A>C n.9089A>C | |
| 5 | g.37125338T>A | CA359499237 | CPLANE1 | n.1863A>T c.8864A>T (p.Lys2955Ile) n.725A>T c.8702A>T (p.Lys2901Ile) c.5876A>T (n.5876A>T) n.4045A>T n.342-3554A>T c.5900A>T (p.Lys1967Ile) c.8861A>T (p.Lys2954Ile) c.8753A>T (p.Lys2918Ile) c.8735A>T (p.Lys2912Ile) c.5507A>T (p.Lys1836Ile) c.3437A>T (p.Lys1146Ile) c.8810A>T (p.Lys2937Ile) c.8756A>T (p.Lys2919Ile) c.8546A>T (p.Lys2849Ile) c.8192A>T (p.Lys2731Ile) c.6089A>T (p.Lys2030Ile) n.9039A>T c.8675A>T (p.Lys2892Ile) c.7871A>T (p.Lys2624Ile) c.7676A>T (p.Lys2559Ile) n.9033A>T n.9088A>T | |
| 5 | g.37125338T>C | CA359499239 | CPLANE1 | n.1863A>G c.8864A>G (p.Lys2955Arg) n.725A>G c.8702A>G (p.Lys2901Arg) c.5876A>G (n.5876A>G) n.4045A>G n.342-3554A>G c.5900A>G (p.Lys1967Arg) c.8861A>G (p.Lys2954Arg) c.8753A>G (p.Lys2918Arg) c.8735A>G (p.Lys2912Arg) c.5507A>G (p.Lys1836Arg) c.3437A>G (p.Lys1146Arg) c.8810A>G (p.Lys2937Arg) c.8756A>G (p.Lys2919Arg) c.8546A>G (p.Lys2849Arg) c.8192A>G (p.Lys2731Arg) c.6089A>G (p.Lys2030Arg) n.9039A>G c.8675A>G (p.Lys2892Arg) c.7871A>G (p.Lys2624Arg) c.7676A>G (p.Lys2559Arg) n.9033A>G n.9088A>G | |
| 5 | g.37125338T>G | CA359499245 | CPLANE1 | n.1863A>C c.8864A>C (p.Lys2955Thr) n.725A>C c.8702A>C (p.Lys2901Thr) c.5876A>C (n.5876A>C) n.4045A>C n.342-3554A>C c.5900A>C (p.Lys1967Thr) c.8861A>C (p.Lys2954Thr) c.8753A>C (p.Lys2918Thr) c.8735A>C (p.Lys2912Thr) c.5507A>C (p.Lys1836Thr) c.3437A>C (p.Lys1146Thr) c.8810A>C (p.Lys2937Thr) c.8756A>C (p.Lys2919Thr) c.8546A>C (p.Lys2849Thr) c.8192A>C (p.Lys2731Thr) c.6089A>C (p.Lys2030Thr) n.9039A>C c.8675A>C (p.Lys2892Thr) c.7871A>C (p.Lys2624Thr) c.7676A>C (p.Lys2559Thr) n.9033A>C n.9088A>C | |
| 5 | g.37125339T>A | CA359499246 | CPLANE1 | n.1862A>T c.8863A>T (p.Lys2955Ter) n.724A>T c.8701A>T (p.Lys2901Ter) c.5875A>T (n.5875A>T) n.4044A>T n.342-3555A>T c.5899A>T (p.Lys1967Ter) c.8860A>T (p.Lys2954Ter) c.8752A>T (p.Lys2918Ter) c.8734A>T (p.Lys2912Ter) c.5506A>T (p.Lys1836Ter) c.3436A>T (p.Lys1146Ter) c.8809A>T (p.Lys2937Ter) c.8755A>T (p.Lys2919Ter) c.8545A>T (p.Lys2849Ter) c.8191A>T (p.Lys2731Ter) c.6088A>T (p.Lys2030Ter) n.9038A>T c.8674A>T (p.Lys2892Ter) c.7870A>T (p.Lys2624Ter) c.7675A>T (p.Lys2559Ter) n.9032A>T n.9087A>T | |
| 5 | g.37125339T>C | CA359499247 | CPLANE1 | n.1862A>G c.8863A>G (p.Lys2955Glu) n.724A>G c.8701A>G (p.Lys2901Glu) c.5875A>G (n.5875A>G) n.4044A>G n.342-3555A>G c.5899A>G (p.Lys1967Glu) c.8860A>G (p.Lys2954Glu) c.8752A>G (p.Lys2918Glu) c.8734A>G (p.Lys2912Glu) c.5506A>G (p.Lys1836Glu) c.3436A>G (p.Lys1146Glu) c.8809A>G (p.Lys2937Glu) c.8755A>G (p.Lys2919Glu) c.8545A>G (p.Lys2849Glu) c.8191A>G (p.Lys2731Glu) c.6088A>G (p.Lys2030Glu) n.9038A>G c.8674A>G (p.Lys2892Glu) c.7870A>G (p.Lys2624Glu) c.7675A>G (p.Lys2559Glu) n.9032A>G n.9087A>G | |
| 5 | g.37125339T>G | CA359499248 | CPLANE1 | n.1862A>C c.8863A>C (p.Lys2955Gln) n.724A>C c.8701A>C (p.Lys2901Gln) c.5875A>C (n.5875A>C) n.4044A>C n.342-3555A>C c.5899A>C (p.Lys1967Gln) c.8860A>C (p.Lys2954Gln) c.8752A>C (p.Lys2918Gln) c.8734A>C (p.Lys2912Gln) c.5506A>C (p.Lys1836Gln) c.3436A>C (p.Lys1146Gln) c.8809A>C (p.Lys2937Gln) c.8755A>C (p.Lys2919Gln) c.8545A>C (p.Lys2849Gln) c.8191A>C (p.Lys2731Gln) c.6088A>C (p.Lys2030Gln) n.9038A>C c.8674A>C (p.Lys2892Gln) c.7870A>C (p.Lys2624Gln) c.7675A>C (p.Lys2559Gln) n.9032A>C n.9087A>C | |
| 5 | g.37125340C>A | CA359499249 | CPLANE1 | n.1861G>T c.8862G>T (p.Met2954Ile) n.723G>T c.8700G>T (p.Met2900Ile) c.5874G>T (n.5874G>T) n.4043G>T n.342-3556G>T c.5898G>T (p.Met1966Ile) c.8859G>T (p.Met2953Ile) c.8751G>T (p.Met2917Ile) c.8733G>T (p.Met2911Ile) c.5505G>T (p.Met1835Ile) c.3435G>T (p.Met1145Ile) c.8808G>T (p.Met2936Ile) c.8754G>T (p.Met2918Ile) c.8544G>T (p.Met2848Ile) c.8190G>T (p.Met2730Ile) c.6087G>T (p.Met2029Ile) n.9037G>T c.8673G>T (p.Met2891Ile) c.7869G>T (p.Met2623Ile) c.7674G>T (p.Met2558Ile) n.9031G>T n.9086G>T | |
| 5 | g.37125340C>G | CA359499251 | CPLANE1 | n.1861G>C c.8862G>C (p.Met2954Ile) n.723G>C c.8700G>C (p.Met2900Ile) c.5874G>C (n.5874G>C) n.4043G>C n.342-3556G>C c.5898G>C (p.Met1966Ile) c.8859G>C (p.Met2953Ile) c.8751G>C (p.Met2917Ile) c.8733G>C (p.Met2911Ile) c.5505G>C (p.Met1835Ile) c.3435G>C (p.Met1145Ile) c.8808G>C (p.Met2936Ile) c.8754G>C (p.Met2918Ile) c.8544G>C (p.Met2848Ile) c.8190G>C (p.Met2730Ile) c.6087G>C (p.Met2029Ile) n.9037G>C c.8673G>C (p.Met2891Ile) c.7869G>C (p.Met2623Ile) c.7674G>C (p.Met2558Ile) n.9031G>C n.9086G>C | |
| 5 | g.37125340C>T | CA359499254 | CPLANE1 | n.1861G>A c.8862G>A (p.Met2954Ile) n.723G>A c.8700G>A (p.Met2900Ile) c.5874G>A (n.5874G>A) n.4043G>A n.342-3556G>A c.5898G>A (p.Met1966Ile) c.8859G>A (p.Met2953Ile) c.8751G>A (p.Met2917Ile) c.8733G>A (p.Met2911Ile) c.5505G>A (p.Met1835Ile) c.3435G>A (p.Met1145Ile) c.8808G>A (p.Met2936Ile) c.8754G>A (p.Met2918Ile) c.8544G>A (p.Met2848Ile) c.8190G>A (p.Met2730Ile) c.6087G>A (p.Met2029Ile) n.9037G>A c.8673G>A (p.Met2891Ile) c.7869G>A (p.Met2623Ile) c.7674G>A (p.Met2558Ile) n.9031G>A n.9086G>A | gnomAD v4 COSMIC COSMIC |
| 5 | g.37125341A= | CA1539667664 | CPLANE1 | n.1860T= c.8861T= (p.Met2954=) n.722T= c.8699T= (p.Met2900=) c.5873T= (n.5873T=) n.4042T= n.342-3557T= c.5897T= (p.Met1966=) c.8858T= (p.Met2953=) c.8750T= (p.Met2917=) c.8732T= (p.Met2911=) c.5504T= (p.Met1835=) c.3434T= (p.Met1145=) c.8807T= (p.Met2936=) c.8753T= (p.Met2918=) c.8543T= (p.Met2848=) c.8189T= (p.Met2730=) c.6086T= (p.Met2029=) n.9036T= c.8672T= (p.Met2891=) c.7868T= (p.Met2623=) c.7673T= (p.Met2558=) n.9030T= n.9085T= | |
| 5 | g.37125341A>C | CA359499277 | CPLANE1 | n.1860T>G c.8861T>G (p.Met2954Arg) n.722T>G c.8699T>G (p.Met2900Arg) c.5873T>G (n.5873T>G) n.4042T>G n.342-3557T>G c.5897T>G (p.Met1966Arg) c.8858T>G (p.Met2953Arg) c.8750T>G (p.Met2917Arg) c.8732T>G (p.Met2911Arg) c.5504T>G (p.Met1835Arg) c.3434T>G (p.Met1145Arg) c.8807T>G (p.Met2936Arg) c.8753T>G (p.Met2918Arg) c.8543T>G (p.Met2848Arg) c.8189T>G (p.Met2730Arg) c.6086T>G (p.Met2029Arg) n.9036T>G c.8672T>G (p.Met2891Arg) c.7868T>G (p.Met2623Arg) c.7673T>G (p.Met2558Arg) n.9030T>G n.9085T>G | |
| 5 | g.37125341A>G | CA359499275 | CPLANE1 | n.1860T>C c.8861T>C (p.Met2954Thr) n.722T>C c.8699T>C (p.Met2900Thr) c.5873T>C (n.5873T>C) n.4042T>C n.342-3557T>C c.5897T>C (p.Met1966Thr) c.8858T>C (p.Met2953Thr) c.8750T>C (p.Met2917Thr) c.8732T>C (p.Met2911Thr) c.5504T>C (p.Met1835Thr) c.3434T>C (p.Met1145Thr) c.8807T>C (p.Met2936Thr) c.8753T>C (p.Met2918Thr) c.8543T>C (p.Met2848Thr) c.8189T>C (p.Met2730Thr) c.6086T>C (p.Met2029Thr) n.9036T>C c.8672T>C (p.Met2891Thr) c.7868T>C (p.Met2623Thr) c.7673T>C (p.Met2558Thr) n.9030T>C n.9085T>C | |
| 5 | g.37125341A>T | CA117059240 | CPLANE1 | n.1860T>A c.8861T>A (p.Met2954Lys) n.722T>A c.8699T>A (p.Met2900Lys) c.5873T>A (n.5873T>A) n.4042T>A n.342-3557T>A c.5897T>A (p.Met1966Lys) c.8858T>A (p.Met2953Lys) c.8750T>A (p.Met2917Lys) c.8732T>A (p.Met2911Lys) c.5504T>A (p.Met1835Lys) c.3434T>A (p.Met1145Lys) c.8807T>A (p.Met2936Lys) c.8753T>A (p.Met2918Lys) c.8543T>A (p.Met2848Lys) c.8189T>A (p.Met2730Lys) c.6086T>A (p.Met2029Lys) n.9036T>A c.8672T>A (p.Met2891Lys) c.7868T>A (p.Met2623Lys) c.7673T>A (p.Met2558Lys) n.9030T>A n.9085T>A | dbSNP |
| 5 | g.37125342T>A | CA359499280 | CPLANE1 | n.1859A>T c.8860A>T (p.Met2954Leu) n.721A>T c.8698A>T (p.Met2900Leu) c.5872A>T (n.5872A>T) n.4041A>T n.342-3558A>T c.5896A>T (p.Met1966Leu) c.8857A>T (p.Met2953Leu) c.8749A>T (p.Met2917Leu) c.8731A>T (p.Met2911Leu) c.5503A>T (p.Met1835Leu) c.3433A>T (p.Met1145Leu) c.8806A>T (p.Met2936Leu) c.8752A>T (p.Met2918Leu) c.8542A>T (p.Met2848Leu) c.8188A>T (p.Met2730Leu) c.6085A>T (p.Met2029Leu) n.9035A>T c.8671A>T (p.Met2891Leu) c.7867A>T (p.Met2623Leu) c.7672A>T (p.Met2558Leu) n.9029A>T n.9084A>T | |
| 5 | g.37125342T>C | CA359499285 | CPLANE1 | n.1859A>G c.8860A>G (p.Met2954Val) n.721A>G c.8698A>G (p.Met2900Val) c.5872A>G (n.5872A>G) n.4041A>G n.342-3558A>G c.5896A>G (p.Met1966Val) c.8857A>G (p.Met2953Val) c.8749A>G (p.Met2917Val) c.8731A>G (p.Met2911Val) c.5503A>G (p.Met1835Val) c.3433A>G (p.Met1145Val) c.8806A>G (p.Met2936Val) c.8752A>G (p.Met2918Val) c.8542A>G (p.Met2848Val) c.8188A>G (p.Met2730Val) c.6085A>G (p.Met2029Val) n.9035A>G c.8671A>G (p.Met2891Val) c.7867A>G (p.Met2623Val) c.7672A>G (p.Met2558Val) n.9029A>G n.9084A>G | gnomAD v4 |
| 5 | g.37125342T>G | CA359499314 | CPLANE1 | n.1859A>C c.8860A>C (p.Met2954Leu) n.721A>C c.8698A>C (p.Met2900Leu) c.5872A>C (n.5872A>C) n.4041A>C n.342-3558A>C c.5896A>C (p.Met1966Leu) c.8857A>C (p.Met2953Leu) c.8749A>C (p.Met2917Leu) c.8731A>C (p.Met2911Leu) c.5503A>C (p.Met1835Leu) c.3433A>C (p.Met1145Leu) c.8806A>C (p.Met2936Leu) c.8752A>C (p.Met2918Leu) c.8542A>C (p.Met2848Leu) c.8188A>C (p.Met2730Leu) c.6085A>C (p.Met2029Leu) n.9035A>C c.8671A>C (p.Met2891Leu) c.7867A>C (p.Met2623Leu) c.7672A>C (p.Met2558Leu) n.9029A>C n.9084A>C | |
| 5 | g.37125343C>A | CA359499321 | CPLANE1 | n.1858G>T c.8859G>T (p.Trp2953Cys) n.720G>T c.8697G>T (p.Trp2899Cys) c.5871G>T (n.5871G>T) n.4040G>T n.342-3559G>T c.5895G>T (p.Trp1965Cys) c.8856G>T (p.Trp2952Cys) c.8748G>T (p.Trp2916Cys) c.8730G>T (p.Trp2910Cys) c.5502G>T (p.Trp1834Cys) c.3432G>T (p.Trp1144Cys) c.8805G>T (p.Trp2935Cys) c.8751G>T (p.Trp2917Cys) c.8541G>T (p.Trp2847Cys) c.8187G>T (p.Trp2729Cys) c.6084G>T (p.Trp2028Cys) n.9034G>T c.8670G>T (p.Trp2890Cys) c.7866G>T (p.Trp2622Cys) c.7671G>T (p.Trp2557Cys) n.9028G>T n.9083G>T | gnomAD v4 |
| 5 | g.37125343C= | CA1539667667 | CPLANE1 | n.1858G= c.8859G= (p.Trp2953=) n.720G= c.8697G= (p.Trp2899=) c.5871G= (n.5871G=) n.4040G= n.342-3559G= c.5895G= (p.Trp1965=) c.8856G= (p.Trp2952=) c.8748G= (p.Trp2916=) c.8730G= (p.Trp2910=) c.5502G= (p.Trp1834=) c.3432G= (p.Trp1144=) c.8805G= (p.Trp2935=) c.8751G= (p.Trp2917=) c.8541G= (p.Trp2847=) c.8187G= (p.Trp2729=) c.6084G= (p.Trp2028=) n.9034G= c.8670G= (p.Trp2890=) c.7866G= (p.Trp2622=) c.7671G= (p.Trp2557=) n.9028G= n.9083G= | |
| 5 | g.37125343C>G | CA359499323 | CPLANE1 | n.1858G>C c.8859G>C (p.Trp2953Cys) n.720G>C c.8697G>C (p.Trp2899Cys) c.5871G>C (n.5871G>C) n.4040G>C n.342-3559G>C c.5895G>C (p.Trp1965Cys) c.8856G>C (p.Trp2952Cys) c.8748G>C (p.Trp2916Cys) c.8730G>C (p.Trp2910Cys) c.5502G>C (p.Trp1834Cys) c.3432G>C (p.Trp1144Cys) c.8805G>C (p.Trp2935Cys) c.8751G>C (p.Trp2917Cys) c.8541G>C (p.Trp2847Cys) c.8187G>C (p.Trp2729Cys) c.6084G>C (p.Trp2028Cys) n.9034G>C c.8670G>C (p.Trp2890Cys) c.7866G>C (p.Trp2622Cys) c.7671G>C (p.Trp2557Cys) n.9028G>C n.9083G>C | |
| 5 | g.37125343C>T | CA359499327 | CPLANE1 | n.1858G>A c.8859G>A (p.Trp2953Ter) n.720G>A c.8697G>A (p.Trp2899Ter) c.5871G>A (n.5871G>A) n.4040G>A n.342-3559G>A c.5895G>A (p.Trp1965Ter) c.8856G>A (p.Trp2952Ter) c.8748G>A (p.Trp2916Ter) c.8730G>A (p.Trp2910Ter) c.5502G>A (p.Trp1834Ter) c.3432G>A (p.Trp1144Ter) c.8805G>A (p.Trp2935Ter) c.8751G>A (p.Trp2917Ter) c.8541G>A (p.Trp2847Ter) c.8187G>A (p.Trp2729Ter) c.6084G>A (p.Trp2028Ter) n.9034G>A c.8670G>A (p.Trp2890Ter) c.7866G>A (p.Trp2622Ter) c.7671G>A (p.Trp2557Ter) n.9028G>A n.9083G>A | dbSNP |
| 5 | g.37125344C>A | CA359499337 | CPLANE1 | n.1857G>T c.8858G>T (p.Trp2953Leu) n.719G>T c.8696G>T (p.Trp2899Leu) c.5870G>T (n.5870G>T) n.4039G>T n.342-3560G>T c.5894G>T (p.Trp1965Leu) c.8855G>T (p.Trp2952Leu) c.8747G>T (p.Trp2916Leu) c.8729G>T (p.Trp2910Leu) c.5501G>T (p.Trp1834Leu) c.3431G>T (p.Trp1144Leu) c.8804G>T (p.Trp2935Leu) c.8750G>T (p.Trp2917Leu) c.8540G>T (p.Trp2847Leu) c.8186G>T (p.Trp2729Leu) c.6083G>T (p.Trp2028Leu) n.9033G>T c.8669G>T (p.Trp2890Leu) c.7865G>T (p.Trp2622Leu) c.7670G>T (p.Trp2557Leu) n.9027G>T n.9082G>T | |
| 5 | g.37125344C= | CA1539667670 | CPLANE1 | n.1857G= c.8858G= (p.Trp2953=) n.719G= c.8696G= (p.Trp2899=) c.5870G= (n.5870G=) n.4039G= n.342-3560G= c.5894G= (p.Trp1965=) c.8855G= (p.Trp2952=) c.8747G= (p.Trp2916=) c.8729G= (p.Trp2910=) c.5501G= (p.Trp1834=) c.3431G= (p.Trp1144=) c.8804G= (p.Trp2935=) c.8750G= (p.Trp2917=) c.8540G= (p.Trp2847=) c.8186G= (p.Trp2729=) c.6083G= (p.Trp2028=) n.9033G= c.8669G= (p.Trp2890=) c.7865G= (p.Trp2622=) c.7670G= (p.Trp2557=) n.9027G= n.9082G= | |
| 5 | g.37125344C>G | CA359499336 | CPLANE1 | n.1857G>C c.8858G>C (p.Trp2953Ser) n.719G>C c.8696G>C (p.Trp2899Ser) c.5870G>C (n.5870G>C) n.4039G>C n.342-3560G>C c.5894G>C (p.Trp1965Ser) c.8855G>C (p.Trp2952Ser) c.8747G>C (p.Trp2916Ser) c.8729G>C (p.Trp2910Ser) c.5501G>C (p.Trp1834Ser) c.3431G>C (p.Trp1144Ser) c.8804G>C (p.Trp2935Ser) c.8750G>C (p.Trp2917Ser) c.8540G>C (p.Trp2847Ser) c.8186G>C (p.Trp2729Ser) c.6083G>C (p.Trp2028Ser) n.9033G>C c.8669G>C (p.Trp2890Ser) c.7865G>C (p.Trp2622Ser) c.7670G>C (p.Trp2557Ser) n.9027G>C n.9082G>C | |
| 5 | g.37125344C>T | CA359499333 | CPLANE1 | n.1857G>A c.8858G>A (p.Trp2953Ter) n.719G>A c.8696G>A (p.Trp2899Ter) c.5870G>A (n.5870G>A) n.4039G>A n.342-3560G>A c.5894G>A (p.Trp1965Ter) c.8855G>A (p.Trp2952Ter) c.8747G>A (p.Trp2916Ter) c.8729G>A (p.Trp2910Ter) c.5501G>A (p.Trp1834Ter) c.3431G>A (p.Trp1144Ter) c.8804G>A (p.Trp2935Ter) c.8750G>A (p.Trp2917Ter) c.8540G>A (p.Trp2847Ter) c.8186G>A (p.Trp2729Ter) c.6083G>A (p.Trp2028Ter) n.9033G>A c.8669G>A (p.Trp2890Ter) c.7865G>A (p.Trp2622Ter) c.7670G>A (p.Trp2557Ter) n.9027G>A n.9082G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |