Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.7752421G>A | CA2643035848 | CAMTA1 | c.1638-38G>A (n.1638-38G>A) c.1977-38G>A (n.1977-38G>A) c.4545-38G>A (n.4545-38G>A) c.2206-38G>A c.*4417-38G>A (n.*4417-38G>A) c.4476-38G>A (n.4476-38G>A) c.4473-38G>A (n.4473-38G>A) c.2730-38G>A (n.2730-38G>A) c.1935-38G>A (n.1935-38G>A) c.1956-38G>A (n.1956-38G>A) n.1058-38G>A c.1596-38G>A (n.1596-38G>A) c.2230-38G>A n.3280-38G>A n.2564-38G>A c.574-44G>A c.88-38G>A c.4884-38G>A (n.4884-38G>A) c.576-38G>A (n.576-38G>A) c.581-38G>A c.1775-38G>A c.4905-38G>A (n.4905-38G>A) c.4893-38G>A (n.4893-38G>A) c.4833-38G>A (n.4833-38G>A) c.4815-38G>A (n.4815-38G>A) c.4566-38G>A (n.4566-38G>A) c.4794-38G>A (n.4794-38G>A) c.4566-44G>A (n.4566-44G>A) c.2013-38G>A (n.2013-38G>A) c.1617-38G>A (n.1617-38G>A) c.2166-38G>A (n.2166-38G>A) c.2145-38G>A (n.2145-38G>A) | gnomAD v4 |
1 | g.7752421G>C | CA2643035849 | CAMTA1 | c.1638-38G>C (n.1638-38G>C) c.1977-38G>C (n.1977-38G>C) c.4545-38G>C (n.4545-38G>C) c.2206-38G>C c.*4417-38G>C (n.*4417-38G>C) c.4476-38G>C (n.4476-38G>C) c.4473-38G>C (n.4473-38G>C) c.2730-38G>C (n.2730-38G>C) c.1935-38G>C (n.1935-38G>C) c.1956-38G>C (n.1956-38G>C) n.1058-38G>C c.1596-38G>C (n.1596-38G>C) c.2230-38G>C n.3280-38G>C n.2564-38G>C c.574-44G>C c.88-38G>C c.4884-38G>C (n.4884-38G>C) c.576-38G>C (n.576-38G>C) c.581-38G>C c.1775-38G>C c.4905-38G>C (n.4905-38G>C) c.4893-38G>C (n.4893-38G>C) c.4833-38G>C (n.4833-38G>C) c.4815-38G>C (n.4815-38G>C) c.4566-38G>C (n.4566-38G>C) c.4794-38G>C (n.4794-38G>C) c.4566-44G>C (n.4566-44G>C) c.2013-38G>C (n.2013-38G>C) c.1617-38G>C (n.1617-38G>C) c.2166-38G>C (n.2166-38G>C) c.2145-38G>C (n.2145-38G>C) | gnomAD v4 |
1 | g.7752421G= | CA1143939869 | CAMTA1 | c.1638-38G= (n.1638-38G=) c.1977-38G= (n.1977-38G=) c.4545-38G= (n.4545-38G=) c.2206-38G= c.*4417-38G= (n.*4417-38G=) c.4476-38G= (n.4476-38G=) c.4473-38G= (n.4473-38G=) c.2730-38G= (n.2730-38G=) c.1935-38G= (n.1935-38G=) c.1956-38G= (n.1956-38G=) n.1058-38G= c.1596-38G= (n.1596-38G=) c.2230-38G= n.3280-38G= n.2564-38G= c.574-44G= c.88-38G= c.4884-38G= (n.4884-38G=) c.576-38G= (n.576-38G=) c.581-38G= c.1775-38G= c.4905-38G= (n.4905-38G=) c.4893-38G= (n.4893-38G=) c.4833-38G= (n.4833-38G=) c.4815-38G= (n.4815-38G=) c.4566-38G= (n.4566-38G=) c.4794-38G= (n.4794-38G=) c.4566-44G= (n.4566-44G=) c.2013-38G= (n.2013-38G=) c.1617-38G= (n.1617-38G=) c.2166-38G= (n.2166-38G=) c.2145-38G= (n.2145-38G=) | |
1 | g.7752421G>T | CA567272 | CAMTA1 | c.1638-38G>T (n.1638-38G>T) c.1977-38G>T (n.1977-38G>T) c.4545-38G>T (n.4545-38G>T) c.2206-38G>T c.*4417-38G>T (n.*4417-38G>T) c.4476-38G>T (n.4476-38G>T) c.4473-38G>T (n.4473-38G>T) c.2730-38G>T (n.2730-38G>T) c.1935-38G>T (n.1935-38G>T) c.1956-38G>T (n.1956-38G>T) n.1058-38G>T c.1596-38G>T (n.1596-38G>T) c.2230-38G>T n.3280-38G>T n.2564-38G>T c.574-44G>T c.88-38G>T c.4884-38G>T (n.4884-38G>T) c.576-38G>T (n.576-38G>T) c.581-38G>T c.1775-38G>T c.4905-38G>T (n.4905-38G>T) c.4893-38G>T (n.4893-38G>T) c.4833-38G>T (n.4833-38G>T) c.4815-38G>T (n.4815-38G>T) c.4566-38G>T (n.4566-38G>T) c.4794-38G>T (n.4794-38G>T) c.4566-44G>T (n.4566-44G>T) c.2013-38G>T (n.2013-38G>T) c.1617-38G>T (n.1617-38G>T) c.2166-38G>T (n.2166-38G>T) c.2145-38G>T (n.2145-38G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7752423A= | CA1143666145 | CAMTA1 | c.1638-36A= (n.1638-36A=) c.1977-36A= (n.1977-36A=) c.4545-36A= (n.4545-36A=) c.2206-36A= c.*4417-36A= (n.*4417-36A=) c.4476-36A= (n.4476-36A=) c.4473-36A= (n.4473-36A=) c.2730-36A= (n.2730-36A=) c.1935-36A= (n.1935-36A=) c.1956-36A= (n.1956-36A=) n.1058-36A= c.1596-36A= (n.1596-36A=) c.2230-36A= n.3280-36A= n.2564-36A= c.574-42A= c.88-36A= c.4884-36A= (n.4884-36A=) c.576-36A= (n.576-36A=) c.581-36A= c.1775-36A= c.4905-36A= (n.4905-36A=) c.4893-36A= (n.4893-36A=) c.4833-36A= (n.4833-36A=) c.4815-36A= (n.4815-36A=) c.4566-36A= (n.4566-36A=) c.4794-36A= (n.4794-36A=) c.4566-42A= (n.4566-42A=) c.2013-36A= (n.2013-36A=) c.1617-36A= (n.1617-36A=) c.2166-36A= (n.2166-36A=) c.2145-36A= (n.2145-36A=) | |
1 | g.7752423A>G | CA567273 | CAMTA1 | c.1638-36A>G (n.1638-36A>G) c.1977-36A>G (n.1977-36A>G) c.4545-36A>G (n.4545-36A>G) c.2206-36A>G c.*4417-36A>G (n.*4417-36A>G) c.4476-36A>G (n.4476-36A>G) c.4473-36A>G (n.4473-36A>G) c.2730-36A>G (n.2730-36A>G) c.1935-36A>G (n.1935-36A>G) c.1956-36A>G (n.1956-36A>G) n.1058-36A>G c.1596-36A>G (n.1596-36A>G) c.2230-36A>G n.3280-36A>G n.2564-36A>G c.574-42A>G c.88-36A>G c.4884-36A>G (n.4884-36A>G) c.576-36A>G (n.576-36A>G) c.581-36A>G c.1775-36A>G c.4905-36A>G (n.4905-36A>G) c.4893-36A>G (n.4893-36A>G) c.4833-36A>G (n.4833-36A>G) c.4815-36A>G (n.4815-36A>G) c.4566-36A>G (n.4566-36A>G) c.4794-36A>G (n.4794-36A>G) c.4566-42A>G (n.4566-42A>G) c.2013-36A>G (n.2013-36A>G) c.1617-36A>G (n.1617-36A>G) c.2166-36A>G (n.2166-36A>G) c.2145-36A>G (n.2145-36A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7752423A>T | CA567274 | CAMTA1 | c.1638-36A>T (n.1638-36A>T) c.1977-36A>T (n.1977-36A>T) c.4545-36A>T (n.4545-36A>T) c.2206-36A>T c.*4417-36A>T (n.*4417-36A>T) c.4476-36A>T (n.4476-36A>T) c.4473-36A>T (n.4473-36A>T) c.2730-36A>T (n.2730-36A>T) c.1935-36A>T (n.1935-36A>T) c.1956-36A>T (n.1956-36A>T) n.1058-36A>T c.1596-36A>T (n.1596-36A>T) c.2230-36A>T n.3280-36A>T n.2564-36A>T c.574-42A>T c.88-36A>T c.4884-36A>T (n.4884-36A>T) c.576-36A>T (n.576-36A>T) c.581-36A>T c.1775-36A>T c.4905-36A>T (n.4905-36A>T) c.4893-36A>T (n.4893-36A>T) c.4833-36A>T (n.4833-36A>T) c.4815-36A>T (n.4815-36A>T) c.4566-36A>T (n.4566-36A>T) c.4794-36A>T (n.4794-36A>T) c.4566-42A>T (n.4566-42A>T) c.2013-36A>T (n.2013-36A>T) c.1617-36A>T (n.1617-36A>T) c.2166-36A>T (n.2166-36A>T) c.2145-36A>T (n.2145-36A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7752426_7752436del | CA2643035855 | CAMTA1 | c.1638-33_1638-23del (n.1638-33_1638-23del) c.1977-33_1977-23del (n.1977-33_1977-23del) c.4545-33_4545-23del (n.4545-33_4545-23del) c.2206-33_2206-23del c.*4417-33_*4417-23del (n.*4417-33_*4417-23del) c.4476-33_4476-23del (n.4476-33_4476-23del) c.4473-33_4473-23del (n.4473-33_4473-23del) c.2730-33_2730-23del (n.2730-33_2730-23del) c.1935-33_1935-23del (n.1935-33_1935-23del) c.1956-33_1956-23del (n.1956-33_1956-23del) n.1058-33_1058-23del c.1596-33_1596-23del (n.1596-33_1596-23del) c.2230-33_2230-23del n.3280-33_3280-23del n.2564-33_2564-23del c.574-39_574-29del c.88-33_88-23del c.4884-33_4884-23del (n.4884-33_4884-23del) c.576-33_576-23del (n.576-33_576-23del) c.581-33_581-23del c.1775-33_1775-23del c.4905-33_4905-23del (n.4905-33_4905-23del) c.4893-33_4893-23del (n.4893-33_4893-23del) c.4833-33_4833-23del (n.4833-33_4833-23del) c.4815-33_4815-23del (n.4815-33_4815-23del) c.4566-33_4566-23del (n.4566-33_4566-23del) c.4794-33_4794-23del (n.4794-33_4794-23del) c.4566-39_4566-29del (n.4566-39_4566-29del) c.2013-33_2013-23del (n.2013-33_2013-23del) c.1617-33_1617-23del (n.1617-33_1617-23del) c.2166-33_2166-23del (n.2166-33_2166-23del) c.2145-33_2145-23del (n.2145-33_2145-23del) | gnomAD v4 |
1 | g.7752425C>A | CA2643035857 | CAMTA1 | c.1638-34C>A (n.1638-34C>A) c.1977-34C>A (n.1977-34C>A) c.4545-34C>A (n.4545-34C>A) c.2206-34C>A c.*4417-34C>A (n.*4417-34C>A) c.4476-34C>A (n.4476-34C>A) c.4473-34C>A (n.4473-34C>A) c.2730-34C>A (n.2730-34C>A) c.1935-34C>A (n.1935-34C>A) c.1956-34C>A (n.1956-34C>A) n.1058-34C>A c.1596-34C>A (n.1596-34C>A) c.2230-34C>A n.3280-34C>A n.2564-34C>A c.574-40C>A c.88-34C>A c.4884-34C>A (n.4884-34C>A) c.576-34C>A (n.576-34C>A) c.581-34C>A c.1775-34C>A c.4905-34C>A (n.4905-34C>A) c.4893-34C>A (n.4893-34C>A) c.4833-34C>A (n.4833-34C>A) c.4815-34C>A (n.4815-34C>A) c.4566-34C>A (n.4566-34C>A) c.4794-34C>A (n.4794-34C>A) c.4566-40C>A (n.4566-40C>A) c.2013-34C>A (n.2013-34C>A) c.1617-34C>A (n.1617-34C>A) c.2166-34C>A (n.2166-34C>A) c.2145-34C>A (n.2145-34C>A) | gnomAD v4 |
1 | g.7752425C= | CA1152049576 | CAMTA1 | c.1638-34C= (n.1638-34C=) c.1977-34C= (n.1977-34C=) c.4545-34C= (n.4545-34C=) c.2206-34C= c.*4417-34C= (n.*4417-34C=) c.4476-34C= (n.4476-34C=) c.4473-34C= (n.4473-34C=) c.2730-34C= (n.2730-34C=) c.1935-34C= (n.1935-34C=) c.1956-34C= (n.1956-34C=) n.1058-34C= c.1596-34C= (n.1596-34C=) c.2230-34C= n.3280-34C= n.2564-34C= c.574-40C= c.88-34C= c.4884-34C= (n.4884-34C=) c.576-34C= (n.576-34C=) c.581-34C= c.1775-34C= c.4905-34C= (n.4905-34C=) c.4893-34C= (n.4893-34C=) c.4833-34C= (n.4833-34C=) c.4815-34C= (n.4815-34C=) c.4566-34C= (n.4566-34C=) c.4794-34C= (n.4794-34C=) c.4566-40C= (n.4566-40C=) c.2013-34C= (n.2013-34C=) c.1617-34C= (n.1617-34C=) c.2166-34C= (n.2166-34C=) c.2145-34C= (n.2145-34C=) | |
1 | g.7752425C>T | CA567275 | CAMTA1 | c.1638-34C>T (n.1638-34C>T) c.1977-34C>T (n.1977-34C>T) c.4545-34C>T (n.4545-34C>T) c.2206-34C>T c.*4417-34C>T (n.*4417-34C>T) c.4476-34C>T (n.4476-34C>T) c.4473-34C>T (n.4473-34C>T) c.2730-34C>T (n.2730-34C>T) c.1935-34C>T (n.1935-34C>T) c.1956-34C>T (n.1956-34C>T) n.1058-34C>T c.1596-34C>T (n.1596-34C>T) c.2230-34C>T n.3280-34C>T n.2564-34C>T c.574-40C>T c.88-34C>T c.4884-34C>T (n.4884-34C>T) c.576-34C>T (n.576-34C>T) c.581-34C>T c.1775-34C>T c.4905-34C>T (n.4905-34C>T) c.4893-34C>T (n.4893-34C>T) c.4833-34C>T (n.4833-34C>T) c.4815-34C>T (n.4815-34C>T) c.4566-34C>T (n.4566-34C>T) c.4794-34C>T (n.4794-34C>T) c.4566-40C>T (n.4566-40C>T) c.2013-34C>T (n.2013-34C>T) c.1617-34C>T (n.1617-34C>T) c.2166-34C>T (n.2166-34C>T) c.2145-34C>T (n.2145-34C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7752425_7752428delinsCCTT | CA1152049574 | CAMTA1 | c.1638-34_1638-31delinsCCTT (n.1638-34_1638-31delinsCCTT) c.1977-34_1977-31delinsCCTT (n.1977-34_1977-31delinsCCTT) c.4545-34_4545-31delinsCCTT (n.4545-34_4545-31delinsCCTT) c.2206-34_2206-31delinsCCTT c.*4417-34_*4417-31delinsCCTT (n.*4417-34_*4417-31delinsCCTT) c.4476-34_4476-31delinsCCTT (n.4476-34_4476-31delinsCCTT) c.4473-34_4473-31delinsCCTT (n.4473-34_4473-31delinsCCTT) c.2730-34_2730-31delinsCCTT (n.2730-34_2730-31delinsCCTT) c.1935-34_1935-31delinsCCTT (n.1935-34_1935-31delinsCCTT) c.1956-34_1956-31delinsCCTT (n.1956-34_1956-31delinsCCTT) n.1058-34_1058-31delinsCCTT c.1596-34_1596-31delinsCCTT (n.1596-34_1596-31delinsCCTT) c.2230-34_2230-31delinsCCTT n.3280-34_3280-31delinsCCTT n.2564-34_2564-31delinsCCTT c.574-40_574-37delinsCCTT c.88-34_88-31delinsCCTT c.4884-34_4884-31delinsCCTT (n.4884-34_4884-31delinsCCTT) c.576-34_576-31delinsCCTT (n.576-34_576-31delinsCCTT) c.581-34_581-31delinsCCTT c.1775-34_1775-31delinsCCTT c.4905-34_4905-31delinsCCTT (n.4905-34_4905-31delinsCCTT) c.4893-34_4893-31delinsCCTT (n.4893-34_4893-31delinsCCTT) c.4833-34_4833-31delinsCCTT (n.4833-34_4833-31delinsCCTT) c.4815-34_4815-31delinsCCTT (n.4815-34_4815-31delinsCCTT) c.4566-34_4566-31delinsCCTT (n.4566-34_4566-31delinsCCTT) c.4794-34_4794-31delinsCCTT (n.4794-34_4794-31delinsCCTT) c.4566-40_4566-37delinsCCTT (n.4566-40_4566-37delinsCCTT) c.2013-34_2013-31delinsCCTT (n.2013-34_2013-31delinsCCTT) c.1617-34_1617-31delinsCCTT (n.1617-34_1617-31delinsCCTT) c.2166-34_2166-31delinsCCTT (n.2166-34_2166-31delinsCCTT) c.2145-34_2145-31delinsCCTT (n.2145-34_2145-31delinsCCTT) | |
1 | g.7752426C>T | CA2574197271 | CAMTA1 | c.1638-33C>T (n.1638-33C>T) c.1977-33C>T (n.1977-33C>T) c.4545-33C>T (n.4545-33C>T) c.2206-33C>T c.*4417-33C>T (n.*4417-33C>T) c.4476-33C>T (n.4476-33C>T) c.4473-33C>T (n.4473-33C>T) c.2730-33C>T (n.2730-33C>T) c.1935-33C>T (n.1935-33C>T) c.1956-33C>T (n.1956-33C>T) n.1058-33C>T c.1596-33C>T (n.1596-33C>T) c.2230-33C>T n.3280-33C>T n.2564-33C>T c.574-39C>T c.88-33C>T c.4884-33C>T (n.4884-33C>T) c.576-33C>T (n.576-33C>T) c.581-33C>T c.1775-33C>T c.4905-33C>T (n.4905-33C>T) c.4893-33C>T (n.4893-33C>T) c.4833-33C>T (n.4833-33C>T) c.4815-33C>T (n.4815-33C>T) c.4566-33C>T (n.4566-33C>T) c.4794-33C>T (n.4794-33C>T) c.4566-39C>T (n.4566-39C>T) c.2013-33C>T (n.2013-33C>T) c.1617-33C>T (n.1617-33C>T) c.2166-33C>T (n.2166-33C>T) c.2145-33C>T (n.2145-33C>T) | |
1 | g.7752429_7752431del | CA567276 | CAMTA1 | c.1638-30_1638-28del (n.1638-30_1638-28del) c.1977-30_1977-28del (n.1977-30_1977-28del) c.4545-30_4545-28del (n.4545-30_4545-28del) c.2206-30_2206-28del c.*4417-30_*4417-28del (n.*4417-30_*4417-28del) c.4476-30_4476-28del (n.4476-30_4476-28del) c.4473-30_4473-28del (n.4473-30_4473-28del) c.2730-30_2730-28del (n.2730-30_2730-28del) c.1935-30_1935-28del (n.1935-30_1935-28del) c.1956-30_1956-28del (n.1956-30_1956-28del) n.1058-30_1058-28del c.1596-30_1596-28del (n.1596-30_1596-28del) c.2230-30_2230-28del n.3280-30_3280-28del n.2564-30_2564-28del c.574-36_574-34del c.88-30_88-28del c.4884-30_4884-28del (n.4884-30_4884-28del) c.576-30_576-28del (n.576-30_576-28del) c.581-30_581-28del c.1775-30_1775-28del c.4905-30_4905-28del (n.4905-30_4905-28del) c.4893-30_4893-28del (n.4893-30_4893-28del) c.4833-30_4833-28del (n.4833-30_4833-28del) c.4815-30_4815-28del (n.4815-30_4815-28del) c.4566-30_4566-28del (n.4566-30_4566-28del) c.4794-30_4794-28del (n.4794-30_4794-28del) c.4566-36_4566-34del (n.4566-36_4566-34del) c.2013-30_2013-28del (n.2013-30_2013-28del) c.1617-30_1617-28del (n.1617-30_1617-28del) c.2166-30_2166-28del (n.2166-30_2166-28del) c.2145-30_2145-28del (n.2145-30_2145-28del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7752427T>A | CA2545428002 | CAMTA1 | c.1638-32T>A (n.1638-32T>A) c.1977-32T>A (n.1977-32T>A) c.4545-32T>A (n.4545-32T>A) c.2206-32T>A c.*4417-32T>A (n.*4417-32T>A) c.4476-32T>A (n.4476-32T>A) c.4473-32T>A (n.4473-32T>A) c.2730-32T>A (n.2730-32T>A) c.1935-32T>A (n.1935-32T>A) c.1956-32T>A (n.1956-32T>A) n.1058-32T>A c.1596-32T>A (n.1596-32T>A) c.2230-32T>A n.3280-32T>A n.2564-32T>A c.574-38T>A c.88-32T>A c.4884-32T>A (n.4884-32T>A) c.576-32T>A (n.576-32T>A) c.581-32T>A c.1775-32T>A c.4905-32T>A (n.4905-32T>A) c.4893-32T>A (n.4893-32T>A) c.4833-32T>A (n.4833-32T>A) c.4815-32T>A (n.4815-32T>A) c.4566-32T>A (n.4566-32T>A) c.4794-32T>A (n.4794-32T>A) c.4566-38T>A (n.4566-38T>A) c.2013-32T>A (n.2013-32T>A) c.1617-32T>A (n.1617-32T>A) c.2166-32T>A (n.2166-32T>A) c.2145-32T>A (n.2145-32T>A) | gnomAD v4 |
1 | g.7752429C>A | CA2643035863 | CAMTA1 | c.1638-30C>A (n.1638-30C>A) c.1977-30C>A (n.1977-30C>A) c.4545-30C>A (n.4545-30C>A) c.2206-30C>A c.*4417-30C>A (n.*4417-30C>A) c.4476-30C>A (n.4476-30C>A) c.4473-30C>A (n.4473-30C>A) c.2730-30C>A (n.2730-30C>A) c.1935-30C>A (n.1935-30C>A) c.1956-30C>A (n.1956-30C>A) n.1058-30C>A c.1596-30C>A (n.1596-30C>A) c.2230-30C>A n.3280-30C>A n.2564-30C>A c.574-36C>A c.88-30C>A c.4884-30C>A (n.4884-30C>A) c.576-30C>A (n.576-30C>A) c.581-30C>A c.1775-30C>A c.4905-30C>A (n.4905-30C>A) c.4893-30C>A (n.4893-30C>A) c.4833-30C>A (n.4833-30C>A) c.4815-30C>A (n.4815-30C>A) c.4566-30C>A (n.4566-30C>A) c.4794-30C>A (n.4794-30C>A) c.4566-36C>A (n.4566-36C>A) c.2013-30C>A (n.2013-30C>A) c.1617-30C>A (n.1617-30C>A) c.2166-30C>A (n.2166-30C>A) c.2145-30C>A (n.2145-30C>A) | gnomAD v4 |
1 | g.7752429C= | CA1152049577 | CAMTA1 | c.1638-30C= (n.1638-30C=) c.1977-30C= (n.1977-30C=) c.4545-30C= (n.4545-30C=) c.2206-30C= c.*4417-30C= (n.*4417-30C=) c.4476-30C= (n.4476-30C=) c.4473-30C= (n.4473-30C=) c.2730-30C= (n.2730-30C=) c.1935-30C= (n.1935-30C=) c.1956-30C= (n.1956-30C=) n.1058-30C= c.1596-30C= (n.1596-30C=) c.2230-30C= n.3280-30C= n.2564-30C= c.574-36C= c.88-30C= c.4884-30C= (n.4884-30C=) c.576-30C= (n.576-30C=) c.581-30C= c.1775-30C= c.4905-30C= (n.4905-30C=) c.4893-30C= (n.4893-30C=) c.4833-30C= (n.4833-30C=) c.4815-30C= (n.4815-30C=) c.4566-30C= (n.4566-30C=) c.4794-30C= (n.4794-30C=) c.4566-36C= (n.4566-36C=) c.2013-30C= (n.2013-30C=) c.1617-30C= (n.1617-30C=) c.2166-30C= (n.2166-30C=) c.2145-30C= (n.2145-30C=) | |
1 | g.7752429C>G | CA2574197273 | CAMTA1 | c.1638-30C>G (n.1638-30C>G) c.1977-30C>G (n.1977-30C>G) c.4545-30C>G (n.4545-30C>G) c.2206-30C>G c.*4417-30C>G (n.*4417-30C>G) c.4476-30C>G (n.4476-30C>G) c.4473-30C>G (n.4473-30C>G) c.2730-30C>G (n.2730-30C>G) c.1935-30C>G (n.1935-30C>G) c.1956-30C>G (n.1956-30C>G) n.1058-30C>G c.1596-30C>G (n.1596-30C>G) c.2230-30C>G n.3280-30C>G n.2564-30C>G c.574-36C>G c.88-30C>G c.4884-30C>G (n.4884-30C>G) c.576-30C>G (n.576-30C>G) c.581-30C>G c.1775-30C>G c.4905-30C>G (n.4905-30C>G) c.4893-30C>G (n.4893-30C>G) c.4833-30C>G (n.4833-30C>G) c.4815-30C>G (n.4815-30C>G) c.4566-30C>G (n.4566-30C>G) c.4794-30C>G (n.4794-30C>G) c.4566-36C>G (n.4566-36C>G) c.2013-30C>G (n.2013-30C>G) c.1617-30C>G (n.1617-30C>G) c.2166-30C>G (n.2166-30C>G) c.2145-30C>G (n.2145-30C>G) | |
1 | g.7752429C>T | CA567277 | CAMTA1 | c.1638-30C>T (n.1638-30C>T) c.1977-30C>T (n.1977-30C>T) c.4545-30C>T (n.4545-30C>T) c.2206-30C>T c.*4417-30C>T (n.*4417-30C>T) c.4476-30C>T (n.4476-30C>T) c.4473-30C>T (n.4473-30C>T) c.2730-30C>T (n.2730-30C>T) c.1935-30C>T (n.1935-30C>T) c.1956-30C>T (n.1956-30C>T) n.1058-30C>T c.1596-30C>T (n.1596-30C>T) c.2230-30C>T n.3280-30C>T n.2564-30C>T c.574-36C>T c.88-30C>T c.4884-30C>T (n.4884-30C>T) c.576-30C>T (n.576-30C>T) c.581-30C>T c.1775-30C>T c.4905-30C>T (n.4905-30C>T) c.4893-30C>T (n.4893-30C>T) c.4833-30C>T (n.4833-30C>T) c.4815-30C>T (n.4815-30C>T) c.4566-30C>T (n.4566-30C>T) c.4794-30C>T (n.4794-30C>T) c.4566-36C>T (n.4566-36C>T) c.2013-30C>T (n.2013-30C>T) c.1617-30C>T (n.1617-30C>T) c.2166-30C>T (n.2166-30C>T) c.2145-30C>T (n.2145-30C>T) | dbSNP ExAC gnomAD v2 |
1 | g.7752432G>T | CA2695509940 | CAMTA1 | c.1638-27G>T (n.1638-27G>T) c.1977-27G>T (n.1977-27G>T) c.4545-27G>T (n.4545-27G>T) c.2206-27G>T c.*4417-27G>T (n.*4417-27G>T) c.4476-27G>T (n.4476-27G>T) c.4473-27G>T (n.4473-27G>T) c.2730-27G>T (n.2730-27G>T) c.1935-27G>T (n.1935-27G>T) c.1956-27G>T (n.1956-27G>T) n.1058-27G>T c.1596-27G>T (n.1596-27G>T) c.2230-27G>T n.3280-27G>T n.2564-27G>T c.574-33G>T c.88-27G>T c.4884-27G>T (n.4884-27G>T) c.576-27G>T (n.576-27G>T) c.581-27G>T c.1775-27G>T c.4905-27G>T (n.4905-27G>T) c.4893-27G>T (n.4893-27G>T) c.4833-27G>T (n.4833-27G>T) c.4815-27G>T (n.4815-27G>T) c.4566-27G>T (n.4566-27G>T) c.4794-27G>T (n.4794-27G>T) c.4566-33G>T (n.4566-33G>T) c.2013-27G>T (n.2013-27G>T) c.1617-27G>T (n.1617-27G>T) c.2166-27G>T (n.2166-27G>T) c.2145-27G>T (n.2145-27G>T) | dbSNP |
1 | g.7752436C>A | CA2643035864 | CAMTA1 | c.1638-23C>A (n.1638-23C>A) c.1977-23C>A (n.1977-23C>A) c.4545-23C>A (n.4545-23C>A) c.2206-23C>A c.*4417-23C>A (n.*4417-23C>A) c.4476-23C>A (n.4476-23C>A) c.4473-23C>A (n.4473-23C>A) c.2730-23C>A (n.2730-23C>A) c.1935-23C>A (n.1935-23C>A) c.1956-23C>A (n.1956-23C>A) n.1058-23C>A c.1596-23C>A (n.1596-23C>A) c.2230-23C>A n.3280-23C>A n.2564-23C>A c.574-29C>A c.88-23C>A c.4884-23C>A (n.4884-23C>A) c.576-23C>A (n.576-23C>A) c.581-23C>A c.1775-23C>A c.4905-23C>A (n.4905-23C>A) c.4893-23C>A (n.4893-23C>A) c.4833-23C>A (n.4833-23C>A) c.4815-23C>A (n.4815-23C>A) c.4566-23C>A (n.4566-23C>A) c.4794-23C>A (n.4794-23C>A) c.4566-29C>A (n.4566-29C>A) c.2013-23C>A (n.2013-23C>A) c.1617-23C>A (n.1617-23C>A) c.2166-23C>A (n.2166-23C>A) c.2145-23C>A (n.2145-23C>A) | gnomAD v4 |
1 | g.7752436C>G | CA2643035865 | CAMTA1 | c.1638-23C>G (n.1638-23C>G) c.1977-23C>G (n.1977-23C>G) c.4545-23C>G (n.4545-23C>G) c.2206-23C>G c.*4417-23C>G (n.*4417-23C>G) c.4476-23C>G (n.4476-23C>G) c.4473-23C>G (n.4473-23C>G) c.2730-23C>G (n.2730-23C>G) c.1935-23C>G (n.1935-23C>G) c.1956-23C>G (n.1956-23C>G) n.1058-23C>G c.1596-23C>G (n.1596-23C>G) c.2230-23C>G n.3280-23C>G n.2564-23C>G c.574-29C>G c.88-23C>G c.4884-23C>G (n.4884-23C>G) c.576-23C>G (n.576-23C>G) c.581-23C>G c.1775-23C>G c.4905-23C>G (n.4905-23C>G) c.4893-23C>G (n.4893-23C>G) c.4833-23C>G (n.4833-23C>G) c.4815-23C>G (n.4815-23C>G) c.4566-23C>G (n.4566-23C>G) c.4794-23C>G (n.4794-23C>G) c.4566-29C>G (n.4566-29C>G) c.2013-23C>G (n.2013-23C>G) c.1617-23C>G (n.1617-23C>G) c.2166-23C>G (n.2166-23C>G) c.2145-23C>G (n.2145-23C>G) | gnomAD v4 |
1 | g.7752436C>T | CA2643035866 | CAMTA1 | c.1638-23C>T (n.1638-23C>T) c.1977-23C>T (n.1977-23C>T) c.4545-23C>T (n.4545-23C>T) c.2206-23C>T c.*4417-23C>T (n.*4417-23C>T) c.4476-23C>T (n.4476-23C>T) c.4473-23C>T (n.4473-23C>T) c.2730-23C>T (n.2730-23C>T) c.1935-23C>T (n.1935-23C>T) c.1956-23C>T (n.1956-23C>T) n.1058-23C>T c.1596-23C>T (n.1596-23C>T) c.2230-23C>T n.3280-23C>T n.2564-23C>T c.574-29C>T c.88-23C>T c.4884-23C>T (n.4884-23C>T) c.576-23C>T (n.576-23C>T) c.581-23C>T c.1775-23C>T c.4905-23C>T (n.4905-23C>T) c.4893-23C>T (n.4893-23C>T) c.4833-23C>T (n.4833-23C>T) c.4815-23C>T (n.4815-23C>T) c.4566-23C>T (n.4566-23C>T) c.4794-23C>T (n.4794-23C>T) c.4566-29C>T (n.4566-29C>T) c.2013-23C>T (n.2013-23C>T) c.1617-23C>T (n.1617-23C>T) c.2166-23C>T (n.2166-23C>T) c.2145-23C>T (n.2145-23C>T) | gnomAD v4 |
1 | g.7752439T>C | CA2643035868 | CAMTA1 | c.1638-20T>C (n.1638-20T>C) c.1977-20T>C (n.1977-20T>C) c.4545-20T>C (n.4545-20T>C) c.2206-20T>C c.*4417-20T>C (n.*4417-20T>C) c.4476-20T>C (n.4476-20T>C) c.4473-20T>C (n.4473-20T>C) c.2730-20T>C (n.2730-20T>C) c.1935-20T>C (n.1935-20T>C) c.1956-20T>C (n.1956-20T>C) n.1058-20T>C c.1596-20T>C (n.1596-20T>C) c.2230-20T>C n.3280-20T>C n.2564-20T>C c.574-26T>C c.88-20T>C c.4884-20T>C (n.4884-20T>C) c.576-20T>C (n.576-20T>C) c.581-20T>C c.1775-20T>C c.4905-20T>C (n.4905-20T>C) c.4893-20T>C (n.4893-20T>C) c.4833-20T>C (n.4833-20T>C) c.4815-20T>C (n.4815-20T>C) c.4566-20T>C (n.4566-20T>C) c.4794-20T>C (n.4794-20T>C) c.4566-26T>C (n.4566-26T>C) c.2013-20T>C (n.2013-20T>C) c.1617-20T>C (n.1617-20T>C) c.2166-20T>C (n.2166-20T>C) c.2145-20T>C (n.2145-20T>C) | gnomAD v4 |
1 | g.7752441_7752444delinsATAT | CA1152049579 | CAMTA1 | c.1638-18_1638-15delinsATAT (n.1638-18_1638-15delinsATAT) c.1977-18_1977-15delinsATAT (n.1977-18_1977-15delinsATAT) c.4545-18_4545-15delinsATAT (n.4545-18_4545-15delinsATAT) c.2206-18_2206-15delinsATAT c.*4417-18_*4417-15delinsATAT (n.*4417-18_*4417-15delinsATAT) c.4476-18_4476-15delinsATAT (n.4476-18_4476-15delinsATAT) c.4473-18_4473-15delinsATAT (n.4473-18_4473-15delinsATAT) c.2730-18_2730-15delinsATAT (n.2730-18_2730-15delinsATAT) c.1935-18_1935-15delinsATAT (n.1935-18_1935-15delinsATAT) c.1956-18_1956-15delinsATAT (n.1956-18_1956-15delinsATAT) n.1058-18_1058-15delinsATAT c.1596-18_1596-15delinsATAT (n.1596-18_1596-15delinsATAT) c.2230-18_2230-15delinsATAT n.3280-18_3280-15delinsATAT n.2564-18_2564-15delinsATAT c.574-24_574-21delinsATAT c.88-18_88-15delinsATAT c.4884-18_4884-15delinsATAT (n.4884-18_4884-15delinsATAT) c.576-18_576-15delinsATAT (n.576-18_576-15delinsATAT) c.581-18_581-15delinsATAT c.1775-18_1775-15delinsATAT c.4905-18_4905-15delinsATAT (n.4905-18_4905-15delinsATAT) c.4893-18_4893-15delinsATAT (n.4893-18_4893-15delinsATAT) c.4833-18_4833-15delinsATAT (n.4833-18_4833-15delinsATAT) c.4815-18_4815-15delinsATAT (n.4815-18_4815-15delinsATAT) c.4566-18_4566-15delinsATAT (n.4566-18_4566-15delinsATAT) c.4794-18_4794-15delinsATAT (n.4794-18_4794-15delinsATAT) c.4566-24_4566-21delinsATAT (n.4566-24_4566-21delinsATAT) c.2013-18_2013-15delinsATAT (n.2013-18_2013-15delinsATAT) c.1617-18_1617-15delinsATAT (n.1617-18_1617-15delinsATAT) c.2166-18_2166-15delinsATAT (n.2166-18_2166-15delinsATAT) c.2145-18_2145-15delinsATAT (n.2145-18_2145-15delinsATAT) | |
1 | g.7752443_7752445del | CA1152049581 | CAMTA1 | c.1638-16_1638-14del (n.1638-16_1638-14del) c.1977-16_1977-14del (n.1977-16_1977-14del) c.4545-16_4545-14del (n.4545-16_4545-14del) c.2206-16_2206-14del c.*4417-16_*4417-14del (n.*4417-16_*4417-14del) c.4476-16_4476-14del (n.4476-16_4476-14del) c.4473-16_4473-14del (n.4473-16_4473-14del) c.2730-16_2730-14del (n.2730-16_2730-14del) c.1935-16_1935-14del (n.1935-16_1935-14del) c.1956-16_1956-14del (n.1956-16_1956-14del) n.1058-16_1058-14del c.1596-16_1596-14del (n.1596-16_1596-14del) c.2230-16_2230-14del n.3280-16_3280-14del n.2564-16_2564-14del c.574-22_574-20del c.88-16_88-14del c.4884-16_4884-14del (n.4884-16_4884-14del) c.576-16_576-14del (n.576-16_576-14del) c.581-16_581-14del c.1775-16_1775-14del c.4905-16_4905-14del (n.4905-16_4905-14del) c.4893-16_4893-14del (n.4893-16_4893-14del) c.4833-16_4833-14del (n.4833-16_4833-14del) c.4815-16_4815-14del (n.4815-16_4815-14del) c.4566-16_4566-14del (n.4566-16_4566-14del) c.4794-16_4794-14del (n.4794-16_4794-14del) c.4566-22_4566-20del (n.4566-22_4566-20del) c.2013-16_2013-14del (n.2013-16_2013-14del) c.1617-16_1617-14del (n.1617-16_1617-14del) c.2166-16_2166-14del (n.2166-16_2166-14del) c.2145-16_2145-14del (n.2145-16_2145-14del) | dbSNP gnomAD v4 |
1 | g.7752445T>G | CA17241450 | CAMTA1 | c.1638-14T>G (n.1638-14T>G) c.1977-14T>G (n.1977-14T>G) c.4545-14T>G (n.4545-14T>G) c.2206-14T>G c.*4417-14T>G (n.*4417-14T>G) c.4476-14T>G (n.4476-14T>G) c.4473-14T>G (n.4473-14T>G) c.2730-14T>G (n.2730-14T>G) c.1935-14T>G (n.1935-14T>G) c.1956-14T>G (n.1956-14T>G) n.1058-14T>G c.1596-14T>G (n.1596-14T>G) c.2230-14T>G n.3280-14T>G n.2564-14T>G c.574-20T>G c.88-14T>G c.4884-14T>G (n.4884-14T>G) c.576-14T>G (n.576-14T>G) c.581-14T>G c.1775-14T>G c.4905-14T>G (n.4905-14T>G) c.4893-14T>G (n.4893-14T>G) c.4833-14T>G (n.4833-14T>G) c.4815-14T>G (n.4815-14T>G) c.4566-14T>G (n.4566-14T>G) c.4794-14T>G (n.4794-14T>G) c.4566-20T>G (n.4566-20T>G) c.2013-14T>G (n.2013-14T>G) c.1617-14T>G (n.1617-14T>G) c.2166-14T>G (n.2166-14T>G) c.2145-14T>G (n.2145-14T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7752445T= | CA1152049583 | CAMTA1 | c.1638-14T= (n.1638-14T=) c.1977-14T= (n.1977-14T=) c.4545-14T= (n.4545-14T=) c.2206-14T= c.*4417-14T= (n.*4417-14T=) c.4476-14T= (n.4476-14T=) c.4473-14T= (n.4473-14T=) c.2730-14T= (n.2730-14T=) c.1935-14T= (n.1935-14T=) c.1956-14T= (n.1956-14T=) n.1058-14T= c.1596-14T= (n.1596-14T=) c.2230-14T= n.3280-14T= n.2564-14T= c.574-20T= c.88-14T= c.4884-14T= (n.4884-14T=) c.576-14T= (n.576-14T=) c.581-14T= c.1775-14T= c.4905-14T= (n.4905-14T=) c.4893-14T= (n.4893-14T=) c.4833-14T= (n.4833-14T=) c.4815-14T= (n.4815-14T=) c.4566-14T= (n.4566-14T=) c.4794-14T= (n.4794-14T=) c.4566-20T= (n.4566-20T=) c.2013-14T= (n.2013-14T=) c.1617-14T= (n.1617-14T=) c.2166-14T= (n.2166-14T=) c.2145-14T= (n.2145-14T=) | |
1 | g.7752449_7752450delinsAC | CA1152049584 | CAMTA1 | c.1638-10_1638-9delinsAC (n.1638-10_1638-9delinsAC) c.1977-10_1977-9delinsAC (n.1977-10_1977-9delinsAC) c.4545-10_4545-9delinsAC (n.4545-10_4545-9delinsAC) c.2206-10_2206-9delinsAC c.*4417-10_*4417-9delinsAC (n.*4417-10_*4417-9delinsAC) c.4476-10_4476-9delinsAC (n.4476-10_4476-9delinsAC) c.4473-10_4473-9delinsAC (n.4473-10_4473-9delinsAC) c.2730-10_2730-9delinsAC (n.2730-10_2730-9delinsAC) c.1935-10_1935-9delinsAC (n.1935-10_1935-9delinsAC) c.1956-10_1956-9delinsAC (n.1956-10_1956-9delinsAC) n.1058-10_1058-9delinsAC c.1596-10_1596-9delinsAC (n.1596-10_1596-9delinsAC) c.2230-10_2230-9delinsAC n.3280-10_3280-9delinsAC n.2564-10_2564-9delinsAC c.574-16_574-15delinsAC c.88-10_88-9delinsAC c.4884-10_4884-9delinsAC (n.4884-10_4884-9delinsAC) c.576-10_576-9delinsAC (n.576-10_576-9delinsAC) c.581-10_581-9delinsAC c.1775-10_1775-9delinsAC c.4905-10_4905-9delinsAC (n.4905-10_4905-9delinsAC) c.4893-10_4893-9delinsAC (n.4893-10_4893-9delinsAC) c.4833-10_4833-9delinsAC (n.4833-10_4833-9delinsAC) c.4815-10_4815-9delinsAC (n.4815-10_4815-9delinsAC) c.4566-10_4566-9delinsAC (n.4566-10_4566-9delinsAC) c.4794-10_4794-9delinsAC (n.4794-10_4794-9delinsAC) c.4566-16_4566-15delinsAC (n.4566-16_4566-15delinsAC) c.2013-10_2013-9delinsAC (n.2013-10_2013-9delinsAC) c.1617-10_1617-9delinsAC (n.1617-10_1617-9delinsAC) c.2166-10_2166-9delinsAC (n.2166-10_2166-9delinsAC) c.2145-10_2145-9delinsAC (n.2145-10_2145-9delinsAC) | |
1 | g.7752450del | CA1152049585 | CAMTA1 | c.1638-9del (n.1638-9del) c.1977-9del (n.1977-9del) c.4545-9del (n.4545-9del) c.2206-9del c.*4417-9del (n.*4417-9del) c.4476-9del (n.4476-9del) c.4473-9del (n.4473-9del) c.2730-9del (n.2730-9del) c.1935-9del (n.1935-9del) c.1956-9del (n.1956-9del) n.1058-9del c.1596-9del (n.1596-9del) c.2230-9del n.3280-9del n.2564-9del c.574-15del c.88-9del c.4884-9del (n.4884-9del) c.576-9del (n.576-9del) c.581-9del c.1775-9del c.4905-9del (n.4905-9del) c.4893-9del (n.4893-9del) c.4833-9del (n.4833-9del) c.4815-9del (n.4815-9del) c.4566-9del (n.4566-9del) c.4794-9del (n.4794-9del) c.4566-15del (n.4566-15del) c.2013-9del (n.2013-9del) c.1617-9del (n.1617-9del) c.2166-9del (n.2166-9del) c.2145-9del (n.2145-9del) | dbSNP gnomAD v4 |
1 | g.7752450C>A | CA2554263778 | CAMTA1 | c.1638-9C>A (n.1638-9C>A) c.1977-9C>A (n.1977-9C>A) c.4545-9C>A (n.4545-9C>A) c.2206-9C>A c.*4417-9C>A (n.*4417-9C>A) c.4476-9C>A (n.4476-9C>A) c.4473-9C>A (n.4473-9C>A) c.2730-9C>A (n.2730-9C>A) c.1935-9C>A (n.1935-9C>A) c.1956-9C>A (n.1956-9C>A) n.1058-9C>A c.1596-9C>A (n.1596-9C>A) c.2230-9C>A n.3280-9C>A n.2564-9C>A c.574-15C>A c.88-9C>A c.4884-9C>A (n.4884-9C>A) c.576-9C>A (n.576-9C>A) c.581-9C>A c.1775-9C>A c.4905-9C>A (n.4905-9C>A) c.4893-9C>A (n.4893-9C>A) c.4833-9C>A (n.4833-9C>A) c.4815-9C>A (n.4815-9C>A) c.4566-9C>A (n.4566-9C>A) c.4794-9C>A (n.4794-9C>A) c.4566-15C>A (n.4566-15C>A) c.2013-9C>A (n.2013-9C>A) c.1617-9C>A (n.1617-9C>A) c.2166-9C>A (n.2166-9C>A) c.2145-9C>A (n.2145-9C>A) | |
1 | g.7752450C= | CA1152049587 | CAMTA1 | c.1638-9C= (n.1638-9C=) c.1977-9C= (n.1977-9C=) c.4545-9C= (n.4545-9C=) c.2206-9C= c.*4417-9C= (n.*4417-9C=) c.4476-9C= (n.4476-9C=) c.4473-9C= (n.4473-9C=) c.2730-9C= (n.2730-9C=) c.1935-9C= (n.1935-9C=) c.1956-9C= (n.1956-9C=) n.1058-9C= c.1596-9C= (n.1596-9C=) c.2230-9C= n.3280-9C= n.2564-9C= c.574-15C= c.88-9C= c.4884-9C= (n.4884-9C=) c.576-9C= (n.576-9C=) c.581-9C= c.1775-9C= c.4905-9C= (n.4905-9C=) c.4893-9C= (n.4893-9C=) c.4833-9C= (n.4833-9C=) c.4815-9C= (n.4815-9C=) c.4566-9C= (n.4566-9C=) c.4794-9C= (n.4794-9C=) c.4566-15C= (n.4566-15C=) c.2013-9C= (n.2013-9C=) c.1617-9C= (n.1617-9C=) c.2166-9C= (n.2166-9C=) c.2145-9C= (n.2145-9C=) | |
1 | g.7752450C>T | CA567278 | CAMTA1 | c.1638-9C>T (n.1638-9C>T) c.1977-9C>T (n.1977-9C>T) c.4545-9C>T (n.4545-9C>T) c.2206-9C>T c.*4417-9C>T (n.*4417-9C>T) c.4476-9C>T (n.4476-9C>T) c.4473-9C>T (n.4473-9C>T) c.2730-9C>T (n.2730-9C>T) c.1935-9C>T (n.1935-9C>T) c.1956-9C>T (n.1956-9C>T) n.1058-9C>T c.1596-9C>T (n.1596-9C>T) c.2230-9C>T n.3280-9C>T n.2564-9C>T c.574-15C>T c.88-9C>T c.4884-9C>T (n.4884-9C>T) c.576-9C>T (n.576-9C>T) c.581-9C>T c.1775-9C>T c.4905-9C>T (n.4905-9C>T) c.4893-9C>T (n.4893-9C>T) c.4833-9C>T (n.4833-9C>T) c.4815-9C>T (n.4815-9C>T) c.4566-9C>T (n.4566-9C>T) c.4794-9C>T (n.4794-9C>T) c.4566-15C>T (n.4566-15C>T) c.2013-9C>T (n.2013-9C>T) c.1617-9C>T (n.1617-9C>T) c.2166-9C>T (n.2166-9C>T) c.2145-9C>T (n.2145-9C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7752450_7752451del | CA2742358971 | CAMTA1 | c.1638-9_1638-8del (n.1638-9_1638-8del) c.1977-9_1977-8del (n.1977-9_1977-8del) c.4545-9_4545-8del (n.4545-9_4545-8del) c.2206-9_2206-8del c.*4417-9_*4417-8del (n.*4417-9_*4417-8del) c.4476-9_4476-8del (n.4476-9_4476-8del) c.4473-9_4473-8del (n.4473-9_4473-8del) c.2730-9_2730-8del (n.2730-9_2730-8del) c.1935-9_1935-8del (n.1935-9_1935-8del) c.1956-9_1956-8del (n.1956-9_1956-8del) n.1058-9_1058-8del c.1596-9_1596-8del (n.1596-9_1596-8del) c.2230-9_2230-8del n.3280-9_3280-8del n.2564-9_2564-8del c.574-15_574-14del c.88-9_88-8del c.4884-9_4884-8del (n.4884-9_4884-8del) c.576-9_576-8del (n.576-9_576-8del) c.581-9_581-8del c.1775-9_1775-8del c.4905-9_4905-8del (n.4905-9_4905-8del) c.4893-9_4893-8del (n.4893-9_4893-8del) c.4833-9_4833-8del (n.4833-9_4833-8del) c.4815-9_4815-8del (n.4815-9_4815-8del) c.4566-9_4566-8del (n.4566-9_4566-8del) c.4794-9_4794-8del (n.4794-9_4794-8del) c.4566-15_4566-14del (n.4566-15_4566-14del) c.2013-9_2013-8del (n.2013-9_2013-8del) c.1617-9_1617-8del (n.1617-9_1617-8del) c.2166-9_2166-8del (n.2166-9_2166-8del) c.2145-9_2145-8del (n.2145-9_2145-8del) | |
1 | g.7752451T>G | CA567279 | CAMTA1 | c.1638-8T>G (n.1638-8T>G) c.1977-8T>G (n.1977-8T>G) c.4545-8T>G (n.4545-8T>G) c.2206-8T>G c.*4417-8T>G (n.*4417-8T>G) c.4476-8T>G (n.4476-8T>G) c.4473-8T>G (n.4473-8T>G) c.2730-8T>G (n.2730-8T>G) c.1935-8T>G (n.1935-8T>G) c.1956-8T>G (n.1956-8T>G) n.1058-8T>G c.1596-8T>G (n.1596-8T>G) c.2230-8T>G n.3280-8T>G n.2564-8T>G c.574-14T>G c.88-8T>G c.4884-8T>G (n.4884-8T>G) c.576-8T>G (n.576-8T>G) c.581-8T>G c.1775-8T>G c.4905-8T>G (n.4905-8T>G) c.4893-8T>G (n.4893-8T>G) c.4833-8T>G (n.4833-8T>G) c.4815-8T>G (n.4815-8T>G) c.4566-8T>G (n.4566-8T>G) c.4794-8T>G (n.4794-8T>G) c.4566-14T>G (n.4566-14T>G) c.2013-8T>G (n.2013-8T>G) c.1617-8T>G (n.1617-8T>G) c.2166-8T>G (n.2166-8T>G) c.2145-8T>G (n.2145-8T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7752451T= | CA1152049591 | CAMTA1 | c.1638-8T= (n.1638-8T=) c.1977-8T= (n.1977-8T=) c.4545-8T= (n.4545-8T=) c.2206-8T= c.*4417-8T= (n.*4417-8T=) c.4476-8T= (n.4476-8T=) c.4473-8T= (n.4473-8T=) c.2730-8T= (n.2730-8T=) c.1935-8T= (n.1935-8T=) c.1956-8T= (n.1956-8T=) n.1058-8T= c.1596-8T= (n.1596-8T=) c.2230-8T= n.3280-8T= n.2564-8T= c.574-14T= c.88-8T= c.4884-8T= (n.4884-8T=) c.576-8T= (n.576-8T=) c.581-8T= c.1775-8T= c.4905-8T= (n.4905-8T=) c.4893-8T= (n.4893-8T=) c.4833-8T= (n.4833-8T=) c.4815-8T= (n.4815-8T=) c.4566-8T= (n.4566-8T=) c.4794-8T= (n.4794-8T=) c.4566-14T= (n.4566-14T=) c.2013-8T= (n.2013-8T=) c.1617-8T= (n.1617-8T=) c.2166-8T= (n.2166-8T=) c.2145-8T= (n.2145-8T=) | |
1 | g.7752455del | CA2574197275 | CAMTA1 | c.1638-4del (n.1638-4del) c.1977-4del (n.1977-4del) c.4545-4del (n.4545-4del) c.2206-4del c.*4417-4del (n.*4417-4del) c.4476-4del (n.4476-4del) c.4473-4del (n.4473-4del) c.2730-4del (n.2730-4del) c.1935-4del (n.1935-4del) c.1956-4del (n.1956-4del) n.1058-4del c.1596-4del (n.1596-4del) c.2230-4del n.3280-4del n.2564-4del c.574-10del c.88-4del c.4884-4del (n.4884-4del) c.576-4del (n.576-4del) c.581-4del c.1775-4del c.4905-4del (n.4905-4del) c.4893-4del (n.4893-4del) c.4833-4del (n.4833-4del) c.4815-4del (n.4815-4del) c.4566-4del (n.4566-4del) c.4794-4del (n.4794-4del) c.4566-10del (n.4566-10del) c.2013-4del (n.2013-4del) c.1617-4del (n.1617-4del) c.2166-4del (n.2166-4del) c.2145-4del (n.2145-4del) | |
1 | g.7752452T>A | CA2742358972 | CAMTA1 | c.1638-7T>A (n.1638-7T>A) c.1977-7T>A (n.1977-7T>A) c.4545-7T>A (n.4545-7T>A) c.2206-7T>A c.*4417-7T>A (n.*4417-7T>A) c.4476-7T>A (n.4476-7T>A) c.4473-7T>A (n.4473-7T>A) c.2730-7T>A (n.2730-7T>A) c.1935-7T>A (n.1935-7T>A) c.1956-7T>A (n.1956-7T>A) n.1058-7T>A c.1596-7T>A (n.1596-7T>A) c.2230-7T>A n.3280-7T>A n.2564-7T>A c.574-13T>A c.88-7T>A c.4884-7T>A (n.4884-7T>A) c.576-7T>A (n.576-7T>A) c.581-7T>A c.1775-7T>A c.4905-7T>A (n.4905-7T>A) c.4893-7T>A (n.4893-7T>A) c.4833-7T>A (n.4833-7T>A) c.4815-7T>A (n.4815-7T>A) c.4566-7T>A (n.4566-7T>A) c.4794-7T>A (n.4794-7T>A) c.4566-13T>A (n.4566-13T>A) c.2013-7T>A (n.2013-7T>A) c.1617-7T>A (n.1617-7T>A) c.2166-7T>A (n.2166-7T>A) c.2145-7T>A (n.2145-7T>A) | |
1 | g.7752453_7752456del | CA2514244173 | CAMTA1 | c.1638-6_1638-3del (n.1638-6_1638-3del) c.1977-6_1977-3del (n.1977-6_1977-3del) c.4545-6_4545-3del (n.4545-6_4545-3del) c.2206-6_2206-3del c.*4417-6_*4417-3del (n.*4417-6_*4417-3del) c.4476-6_4476-3del (n.4476-6_4476-3del) c.4473-6_4473-3del (n.4473-6_4473-3del) c.2730-6_2730-3del (n.2730-6_2730-3del) c.1935-6_1935-3del (n.1935-6_1935-3del) c.1956-6_1956-3del (n.1956-6_1956-3del) n.1058-6_1058-3del c.1596-6_1596-3del (n.1596-6_1596-3del) c.2230-6_2230-3del n.3280-6_3280-3del n.2564-6_2564-3del c.574-12_574-9del c.88-6_88-3del c.4884-6_4884-3del (n.4884-6_4884-3del) c.576-6_576-3del (n.576-6_576-3del) c.581-6_581-3del c.1775-6_1775-3del c.4905-6_4905-3del (n.4905-6_4905-3del) c.4893-6_4893-3del (n.4893-6_4893-3del) c.4833-6_4833-3del (n.4833-6_4833-3del) c.4815-6_4815-3del (n.4815-6_4815-3del) c.4566-6_4566-3del (n.4566-6_4566-3del) c.4794-6_4794-3del (n.4794-6_4794-3del) c.4566-12_4566-9del (n.4566-12_4566-9del) c.2013-6_2013-3del (n.2013-6_2013-3del) c.1617-6_1617-3del (n.1617-6_1617-3del) c.2166-6_2166-3del (n.2166-6_2166-3del) c.2145-6_2145-3del (n.2145-6_2145-3del) | |
1 | g.7752454T>C | CA567280 | CAMTA1 | c.1638-5T>C (n.1638-5T>C) c.1977-5T>C (n.1977-5T>C) c.4545-5T>C (n.4545-5T>C) c.2206-5T>C c.*4417-5T>C (n.*4417-5T>C) c.4476-5T>C (n.4476-5T>C) c.4473-5T>C (n.4473-5T>C) c.2730-5T>C (n.2730-5T>C) c.1935-5T>C (n.1935-5T>C) c.1956-5T>C (n.1956-5T>C) n.1058-5T>C c.1596-5T>C (n.1596-5T>C) c.2230-5T>C n.3280-5T>C n.2564-5T>C c.574-11T>C c.88-5T>C c.4884-5T>C (n.4884-5T>C) c.576-5T>C (n.576-5T>C) c.581-5T>C c.1775-5T>C c.4905-5T>C (n.4905-5T>C) c.4893-5T>C (n.4893-5T>C) c.4833-5T>C (n.4833-5T>C) c.4815-5T>C (n.4815-5T>C) c.4566-5T>C (n.4566-5T>C) c.4794-5T>C (n.4794-5T>C) c.4566-11T>C (n.4566-11T>C) c.2013-5T>C (n.2013-5T>C) c.1617-5T>C (n.1617-5T>C) c.2166-5T>C (n.2166-5T>C) c.2145-5T>C (n.2145-5T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7752454T= | CA1152049595 | CAMTA1 | c.1638-5T= (n.1638-5T=) c.1977-5T= (n.1977-5T=) c.4545-5T= (n.4545-5T=) c.2206-5T= c.*4417-5T= (n.*4417-5T=) c.4476-5T= (n.4476-5T=) c.4473-5T= (n.4473-5T=) c.2730-5T= (n.2730-5T=) c.1935-5T= (n.1935-5T=) c.1956-5T= (n.1956-5T=) n.1058-5T= c.1596-5T= (n.1596-5T=) c.2230-5T= n.3280-5T= n.2564-5T= c.574-11T= c.88-5T= c.4884-5T= (n.4884-5T=) c.576-5T= (n.576-5T=) c.581-5T= c.1775-5T= c.4905-5T= (n.4905-5T=) c.4893-5T= (n.4893-5T=) c.4833-5T= (n.4833-5T=) c.4815-5T= (n.4815-5T=) c.4566-5T= (n.4566-5T=) c.4794-5T= (n.4794-5T=) c.4566-11T= (n.4566-11T=) c.2013-5T= (n.2013-5T=) c.1617-5T= (n.1617-5T=) c.2166-5T= (n.2166-5T=) c.2145-5T= (n.2145-5T=) | |
1 | g.7752456C>A | CA1152049599 | CAMTA1 | c.1638-3C>A (n.1638-3C>A) c.1977-3C>A (n.1977-3C>A) c.4545-3C>A (n.4545-3C>A) c.2206-3C>A c.*4417-3C>A (n.*4417-3C>A) c.4476-3C>A (n.4476-3C>A) c.4473-3C>A (n.4473-3C>A) c.2730-3C>A (n.2730-3C>A) c.1935-3C>A (n.1935-3C>A) c.1956-3C>A (n.1956-3C>A) n.1058-3C>A c.1596-3C>A (n.1596-3C>A) c.2230-3C>A n.3280-3C>A n.2564-3C>A c.574-9C>A c.88-3C>A c.4884-3C>A (n.4884-3C>A) c.576-3C>A (n.576-3C>A) c.581-3C>A c.1775-3C>A c.4905-3C>A (n.4905-3C>A) c.4893-3C>A (n.4893-3C>A) c.4833-3C>A (n.4833-3C>A) c.4815-3C>A (n.4815-3C>A) c.4566-3C>A (n.4566-3C>A) c.4794-3C>A (n.4794-3C>A) c.4566-9C>A (n.4566-9C>A) c.2013-3C>A (n.2013-3C>A) c.1617-3C>A (n.1617-3C>A) c.2166-3C>A (n.2166-3C>A) c.2145-3C>A (n.2145-3C>A) | dbSNP |
1 | g.7752456C= | CA1152049597 | CAMTA1 | c.1638-3C= (n.1638-3C=) c.1977-3C= (n.1977-3C=) c.4545-3C= (n.4545-3C=) c.2206-3C= c.*4417-3C= (n.*4417-3C=) c.4476-3C= (n.4476-3C=) c.4473-3C= (n.4473-3C=) c.2730-3C= (n.2730-3C=) c.1935-3C= (n.1935-3C=) c.1956-3C= (n.1956-3C=) n.1058-3C= c.1596-3C= (n.1596-3C=) c.2230-3C= n.3280-3C= n.2564-3C= c.574-9C= c.88-3C= c.4884-3C= (n.4884-3C=) c.576-3C= (n.576-3C=) c.581-3C= c.1775-3C= c.4905-3C= (n.4905-3C=) c.4893-3C= (n.4893-3C=) c.4833-3C= (n.4833-3C=) c.4815-3C= (n.4815-3C=) c.4566-3C= (n.4566-3C=) c.4794-3C= (n.4794-3C=) c.4566-9C= (n.4566-9C=) c.2013-3C= (n.2013-3C=) c.1617-3C= (n.1617-3C=) c.2166-3C= (n.2166-3C=) c.2145-3C= (n.2145-3C=) | |
1 | g.7752456C>G | CA2643035880 | CAMTA1 | c.1638-3C>G (n.1638-3C>G) c.1977-3C>G (n.1977-3C>G) c.4545-3C>G (n.4545-3C>G) c.2206-3C>G c.*4417-3C>G (n.*4417-3C>G) c.4476-3C>G (n.4476-3C>G) c.4473-3C>G (n.4473-3C>G) c.2730-3C>G (n.2730-3C>G) c.1935-3C>G (n.1935-3C>G) c.1956-3C>G (n.1956-3C>G) n.1058-3C>G c.1596-3C>G (n.1596-3C>G) c.2230-3C>G n.3280-3C>G n.2564-3C>G c.574-9C>G c.88-3C>G c.4884-3C>G (n.4884-3C>G) c.576-3C>G (n.576-3C>G) c.581-3C>G c.1775-3C>G c.4905-3C>G (n.4905-3C>G) c.4893-3C>G (n.4893-3C>G) c.4833-3C>G (n.4833-3C>G) c.4815-3C>G (n.4815-3C>G) c.4566-3C>G (n.4566-3C>G) c.4794-3C>G (n.4794-3C>G) c.4566-9C>G (n.4566-9C>G) c.2013-3C>G (n.2013-3C>G) c.1617-3C>G (n.1617-3C>G) c.2166-3C>G (n.2166-3C>G) c.2145-3C>G (n.2145-3C>G) | gnomAD v4 |
1 | g.7752457A>C | CA338145033 | CAMTA1 | c.1638-2A>C (n.1638-2A>C) c.1977-2A>C (n.1977-2A>C) c.4545-2A>C (n.4545-2A>C) c.2206-2A>C c.*4417-2A>C (n.*4417-2A>C) c.4476-2A>C (n.4476-2A>C) c.4473-2A>C (n.4473-2A>C) c.2730-2A>C (n.2730-2A>C) c.1935-2A>C (n.1935-2A>C) c.1956-2A>C (n.1956-2A>C) n.1058-2A>C c.1596-2A>C (n.1596-2A>C) c.2230-2A>C n.3280-2A>C n.2564-2A>C c.574-8A>C c.88-2A>C c.4884-2A>C (n.4884-2A>C) c.576-2A>C (n.576-2A>C) c.581-2A>C c.1775-2A>C c.4905-2A>C (n.4905-2A>C) c.4893-2A>C (n.4893-2A>C) c.4833-2A>C (n.4833-2A>C) c.4815-2A>C (n.4815-2A>C) c.4566-2A>C (n.4566-2A>C) c.4794-2A>C (n.4794-2A>C) c.4566-8A>C (n.4566-8A>C) c.2013-2A>C (n.2013-2A>C) c.1617-2A>C (n.1617-2A>C) c.2166-2A>C (n.2166-2A>C) c.2145-2A>C (n.2145-2A>C) | gnomAD v4 |
1 | g.7752457A>G | CA338145039 | CAMTA1 | c.1638-2A>G (n.1638-2A>G) c.1977-2A>G (n.1977-2A>G) c.4545-2A>G (n.4545-2A>G) c.2206-2A>G c.*4417-2A>G (n.*4417-2A>G) c.4476-2A>G (n.4476-2A>G) c.4473-2A>G (n.4473-2A>G) c.2730-2A>G (n.2730-2A>G) c.1935-2A>G (n.1935-2A>G) c.1956-2A>G (n.1956-2A>G) n.1058-2A>G c.1596-2A>G (n.1596-2A>G) c.2230-2A>G n.3280-2A>G n.2564-2A>G c.574-8A>G c.88-2A>G c.4884-2A>G (n.4884-2A>G) c.576-2A>G (n.576-2A>G) c.581-2A>G c.1775-2A>G c.4905-2A>G (n.4905-2A>G) c.4893-2A>G (n.4893-2A>G) c.4833-2A>G (n.4833-2A>G) c.4815-2A>G (n.4815-2A>G) c.4566-2A>G (n.4566-2A>G) c.4794-2A>G (n.4794-2A>G) c.4566-8A>G (n.4566-8A>G) c.2013-2A>G (n.2013-2A>G) c.1617-2A>G (n.1617-2A>G) c.2166-2A>G (n.2166-2A>G) c.2145-2A>G (n.2145-2A>G) | gnomAD v4 |
1 | g.7752457A>T | CA338145042 | CAMTA1 | c.1638-2A>T (n.1638-2A>T) c.1977-2A>T (n.1977-2A>T) c.4545-2A>T (n.4545-2A>T) c.2206-2A>T c.*4417-2A>T (n.*4417-2A>T) c.4476-2A>T (n.4476-2A>T) c.4473-2A>T (n.4473-2A>T) c.2730-2A>T (n.2730-2A>T) c.1935-2A>T (n.1935-2A>T) c.1956-2A>T (n.1956-2A>T) n.1058-2A>T c.1596-2A>T (n.1596-2A>T) c.2230-2A>T n.3280-2A>T n.2564-2A>T c.574-8A>T c.88-2A>T c.4884-2A>T (n.4884-2A>T) c.576-2A>T (n.576-2A>T) c.581-2A>T c.1775-2A>T c.4905-2A>T (n.4905-2A>T) c.4893-2A>T (n.4893-2A>T) c.4833-2A>T (n.4833-2A>T) c.4815-2A>T (n.4815-2A>T) c.4566-2A>T (n.4566-2A>T) c.4794-2A>T (n.4794-2A>T) c.4566-8A>T (n.4566-8A>T) c.2013-2A>T (n.2013-2A>T) c.1617-2A>T (n.1617-2A>T) c.2166-2A>T (n.2166-2A>T) c.2145-2A>T (n.2145-2A>T) | |
1 | g.7752458G>A | CA338145053 | CAMTA1 | c.1638-1G>A (n.1638-1G>A) c.1977-1G>A (n.1977-1G>A) c.4545-1G>A (n.4545-1G>A) c.2206-1G>A c.*4417-1G>A (n.*4417-1G>A) c.4476-1G>A (n.4476-1G>A) c.4473-1G>A (n.4473-1G>A) c.2730-1G>A (n.2730-1G>A) c.1935-1G>A (n.1935-1G>A) c.1956-1G>A (n.1956-1G>A) n.1058-1G>A c.1596-1G>A (n.1596-1G>A) c.2230-1G>A n.3280-1G>A n.2564-1G>A c.574-7G>A c.88-1G>A c.4884-1G>A (n.4884-1G>A) c.576-1G>A (n.576-1G>A) c.581-1G>A c.1775-1G>A c.4905-1G>A (n.4905-1G>A) c.4893-1G>A (n.4893-1G>A) c.4833-1G>A (n.4833-1G>A) c.4815-1G>A (n.4815-1G>A) c.4566-1G>A (n.4566-1G>A) c.4794-1G>A (n.4794-1G>A) c.4566-7G>A (n.4566-7G>A) c.2013-1G>A (n.2013-1G>A) c.1617-1G>A (n.1617-1G>A) c.2166-1G>A (n.2166-1G>A) c.2145-1G>A (n.2145-1G>A) | |
1 | g.7752458G>C | CA338145046 | CAMTA1 | c.1638-1G>C (n.1638-1G>C) c.1977-1G>C (n.1977-1G>C) c.4545-1G>C (n.4545-1G>C) c.2206-1G>C c.*4417-1G>C (n.*4417-1G>C) c.4476-1G>C (n.4476-1G>C) c.4473-1G>C (n.4473-1G>C) c.2730-1G>C (n.2730-1G>C) c.1935-1G>C (n.1935-1G>C) c.1956-1G>C (n.1956-1G>C) n.1058-1G>C c.1596-1G>C (n.1596-1G>C) c.2230-1G>C n.3280-1G>C n.2564-1G>C c.574-7G>C c.88-1G>C c.4884-1G>C (n.4884-1G>C) c.576-1G>C (n.576-1G>C) c.581-1G>C c.1775-1G>C c.4905-1G>C (n.4905-1G>C) c.4893-1G>C (n.4893-1G>C) c.4833-1G>C (n.4833-1G>C) c.4815-1G>C (n.4815-1G>C) c.4566-1G>C (n.4566-1G>C) c.4794-1G>C (n.4794-1G>C) c.4566-7G>C (n.4566-7G>C) c.2013-1G>C (n.2013-1G>C) c.1617-1G>C (n.1617-1G>C) c.2166-1G>C (n.2166-1G>C) c.2145-1G>C (n.2145-1G>C) | |
1 | g.7752458G>T | CA338145050 | CAMTA1 | c.1638-1G>T (n.1638-1G>T) c.1977-1G>T (n.1977-1G>T) c.4545-1G>T (n.4545-1G>T) c.2206-1G>T c.*4417-1G>T (n.*4417-1G>T) c.4476-1G>T (n.4476-1G>T) c.4473-1G>T (n.4473-1G>T) c.2730-1G>T (n.2730-1G>T) c.1935-1G>T (n.1935-1G>T) c.1956-1G>T (n.1956-1G>T) n.1058-1G>T c.1596-1G>T (n.1596-1G>T) c.2230-1G>T n.3280-1G>T n.2564-1G>T c.574-7G>T c.88-1G>T c.4884-1G>T (n.4884-1G>T) c.576-1G>T (n.576-1G>T) c.581-1G>T c.1775-1G>T c.4905-1G>T (n.4905-1G>T) c.4893-1G>T (n.4893-1G>T) c.4833-1G>T (n.4833-1G>T) c.4815-1G>T (n.4815-1G>T) c.4566-1G>T (n.4566-1G>T) c.4794-1G>T (n.4794-1G>T) c.4566-7G>T (n.4566-7G>T) c.2013-1G>T (n.2013-1G>T) c.1617-1G>T (n.1617-1G>T) c.2166-1G>T (n.2166-1G>T) c.2145-1G>T (n.2145-1G>T) | |
1 | g.7752459G>A | CA415825967 | CAMTA1 | c.1638G>A (p.Arg546=) c.1977G>A (p.Arg659=) c.4545G>A (p.Arg1515=) c.2206G>A c.*4417G>A (n.*4417G>A) c.4476G>A (p.Arg1492=) c.4473G>A (p.Arg1491=) c.2730G>A (p.Arg910=) c.1935G>A (p.Arg645=) c.1956G>A (p.Arg652=) n.1058G>A c.1596G>A (p.Arg532=) c.2230G>A n.3280G>A n.2564G>A c.574-6G>A c.88G>A c.4884G>A (p.Arg1628=) c.576G>A (p.Arg192=) c.581G>A c.1775G>A c.4905G>A (p.Arg1635=) c.4893G>A (p.Arg1631=) c.4833G>A (p.Arg1611=) c.4815G>A (p.Arg1605=) c.4566G>A (p.Arg1522=) c.4794G>A (p.Arg1598=) c.4566-6G>A (n.4566-6G>A) c.2013G>A (p.Arg671=) c.1617G>A (p.Arg539=) c.2166G>A (p.Arg722=) c.2145G>A (p.Arg715=) | |
1 | g.7752459G>C | CA338145057 | CAMTA1 | c.1638G>C (p.Arg546Ser) c.1977G>C (p.Arg659Ser) c.4545G>C (p.Arg1515Ser) c.2206G>C c.*4417G>C (n.*4417G>C) c.4476G>C (p.Arg1492Ser) c.4473G>C (p.Arg1491Ser) c.2730G>C (p.Arg910Ser) c.1935G>C (p.Arg645Ser) c.1956G>C (p.Arg652Ser) n.1058G>C c.1596G>C (p.Arg532Ser) c.2230G>C n.3280G>C n.2564G>C c.574-6G>C c.88G>C c.4884G>C (p.Arg1628Ser) c.576G>C (p.Arg192Ser) c.581G>C c.1775G>C c.4905G>C (p.Arg1635Ser) c.4893G>C (p.Arg1631Ser) c.4833G>C (p.Arg1611Ser) c.4815G>C (p.Arg1605Ser) c.4566G>C (p.Arg1522Ser) c.4794G>C (p.Arg1598Ser) c.4566-6G>C (n.4566-6G>C) c.2013G>C (p.Arg671Ser) c.1617G>C (p.Arg539Ser) c.2166G>C (p.Arg722Ser) c.2145G>C (p.Arg715Ser) | |
1 | g.7752459G>T | CA338145059 | CAMTA1 | c.1638G>T (p.Arg546Ser) c.1977G>T (p.Arg659Ser) c.4545G>T (p.Arg1515Ser) c.2206G>T c.*4417G>T (n.*4417G>T) c.4476G>T (p.Arg1492Ser) c.4473G>T (p.Arg1491Ser) c.2730G>T (p.Arg910Ser) c.1935G>T (p.Arg645Ser) c.1956G>T (p.Arg652Ser) n.1058G>T c.1596G>T (p.Arg532Ser) c.2230G>T n.3280G>T n.2564G>T c.574-6G>T c.88G>T c.4884G>T (p.Arg1628Ser) c.576G>T (p.Arg192Ser) c.581G>T c.1775G>T c.4905G>T (p.Arg1635Ser) c.4893G>T (p.Arg1631Ser) c.4833G>T (p.Arg1611Ser) c.4815G>T (p.Arg1605Ser) c.4566G>T (p.Arg1522Ser) c.4794G>T (p.Arg1598Ser) c.4566-6G>T (n.4566-6G>T) c.2013G>T (p.Arg671Ser) c.1617G>T (p.Arg539Ser) c.2166G>T (p.Arg722Ser) c.2145G>T (p.Arg715Ser) | |
1 | g.7752460A>C | CA338145067 | CAMTA1 | c.1639A>C (p.Ser547Arg) c.1978A>C (p.Ser660Arg) c.4546A>C (p.Ser1516Arg) c.2207A>C c.*4418A>C (n.*4418A>C) c.4477A>C (p.Ser1493Arg) c.4474A>C (p.Ser1492Arg) c.2731A>C (p.Ser911Arg) c.1936A>C (p.Ser646Arg) c.1957A>C (p.Ser653Arg) n.1059A>C c.1597A>C (p.Ser533Arg) c.2231A>C n.3281A>C n.2565A>C c.574-5A>C c.89A>C c.4885A>C (p.Ser1629Arg) c.577A>C (p.Ser193Arg) c.582A>C c.1776A>C c.4906A>C (p.Ser1636Arg) c.4894A>C (p.Ser1632Arg) c.4834A>C (p.Ser1612Arg) c.4816A>C (p.Ser1606Arg) c.4567A>C (p.Ser1523Arg) c.4795A>C (p.Ser1599Arg) c.4566-5A>C (n.4566-5A>C) c.2014A>C (p.Ser672Arg) c.1618A>C (p.Ser540Arg) c.2167A>C (p.Ser723Arg) c.2146A>C (p.Ser716Arg) | |
1 | g.7752460A>G | CA338145068 | CAMTA1 | c.1639A>G (p.Ser547Gly) c.1978A>G (p.Ser660Gly) c.4546A>G (p.Ser1516Gly) c.2207A>G c.*4418A>G (n.*4418A>G) c.4477A>G (p.Ser1493Gly) c.4474A>G (p.Ser1492Gly) c.2731A>G (p.Ser911Gly) c.1936A>G (p.Ser646Gly) c.1957A>G (p.Ser653Gly) n.1059A>G c.1597A>G (p.Ser533Gly) c.2231A>G n.3281A>G n.2565A>G c.574-5A>G c.89A>G c.4885A>G (p.Ser1629Gly) c.577A>G (p.Ser193Gly) c.582A>G c.1776A>G c.4906A>G (p.Ser1636Gly) c.4894A>G (p.Ser1632Gly) c.4834A>G (p.Ser1612Gly) c.4816A>G (p.Ser1606Gly) c.4567A>G (p.Ser1523Gly) c.4795A>G (p.Ser1599Gly) c.4566-5A>G (n.4566-5A>G) c.2014A>G (p.Ser672Gly) c.1618A>G (p.Ser540Gly) c.2167A>G (p.Ser723Gly) c.2146A>G (p.Ser716Gly) | |
1 | g.7752460A>T | CA338145074 | CAMTA1 | c.1639A>T (p.Ser547Cys) c.1978A>T (p.Ser660Cys) c.4546A>T (p.Ser1516Cys) c.2207A>T c.*4418A>T (n.*4418A>T) c.4477A>T (p.Ser1493Cys) c.4474A>T (p.Ser1492Cys) c.2731A>T (p.Ser911Cys) c.1936A>T (p.Ser646Cys) c.1957A>T (p.Ser653Cys) n.1059A>T c.1597A>T (p.Ser533Cys) c.2231A>T n.3281A>T n.2565A>T c.574-5A>T c.89A>T c.4885A>T (p.Ser1629Cys) c.577A>T (p.Ser193Cys) c.582A>T c.1776A>T c.4906A>T (p.Ser1636Cys) c.4894A>T (p.Ser1632Cys) c.4834A>T (p.Ser1612Cys) c.4816A>T (p.Ser1606Cys) c.4567A>T (p.Ser1523Cys) c.4795A>T (p.Ser1599Cys) c.4566-5A>T (n.4566-5A>T) c.2014A>T (p.Ser672Cys) c.1618A>T (p.Ser540Cys) c.2167A>T (p.Ser723Cys) c.2146A>T (p.Ser716Cys) | |
1 | g.7752461G>A | CA338145077 | CAMTA1 | c.1640G>A (p.Ser547Asn) c.1979G>A (p.Ser660Asn) c.4547G>A (p.Ser1516Asn) c.2208G>A c.*4419G>A (n.*4419G>A) c.4478G>A (p.Ser1493Asn) c.4475G>A (p.Ser1492Asn) c.2732G>A (p.Ser911Asn) c.1937G>A (p.Ser646Asn) c.1958G>A (p.Ser653Asn) n.1060G>A c.1598G>A (p.Ser533Asn) c.2232G>A n.3282G>A n.2566G>A c.574-4G>A c.90G>A c.4886G>A (p.Ser1629Asn) c.578G>A (p.Ser193Asn) c.583G>A c.1777G>A c.4907G>A (p.Ser1636Asn) c.4895G>A (p.Ser1632Asn) c.4835G>A (p.Ser1612Asn) c.4817G>A (p.Ser1606Asn) c.4568G>A (p.Ser1523Asn) c.4796G>A (p.Ser1599Asn) c.4566-4G>A (n.4566-4G>A) c.2015G>A (p.Ser672Asn) c.1619G>A (p.Ser540Asn) c.2168G>A (p.Ser723Asn) c.2147G>A (p.Ser716Asn) | |
1 | g.7752461G>C | CA338145075 | CAMTA1 | c.1640G>C (p.Ser547Thr) c.1979G>C (p.Ser660Thr) c.4547G>C (p.Ser1516Thr) c.2208G>C c.*4419G>C (n.*4419G>C) c.4478G>C (p.Ser1493Thr) c.4475G>C (p.Ser1492Thr) c.2732G>C (p.Ser911Thr) c.1937G>C (p.Ser646Thr) c.1958G>C (p.Ser653Thr) n.1060G>C c.1598G>C (p.Ser533Thr) c.2232G>C n.3282G>C n.2566G>C c.574-4G>C c.90G>C c.4886G>C (p.Ser1629Thr) c.578G>C (p.Ser193Thr) c.583G>C c.1777G>C c.4907G>C (p.Ser1636Thr) c.4895G>C (p.Ser1632Thr) c.4835G>C (p.Ser1612Thr) c.4817G>C (p.Ser1606Thr) c.4568G>C (p.Ser1523Thr) c.4796G>C (p.Ser1599Thr) c.4566-4G>C (n.4566-4G>C) c.2015G>C (p.Ser672Thr) c.1619G>C (p.Ser540Thr) c.2168G>C (p.Ser723Thr) c.2147G>C (p.Ser716Thr) | |
1 | g.7752461G>T | CA338145076 | CAMTA1 | c.1640G>T (p.Ser547Ile) c.1979G>T (p.Ser660Ile) c.4547G>T (p.Ser1516Ile) c.2208G>T c.*4419G>T (n.*4419G>T) c.4478G>T (p.Ser1493Ile) c.4475G>T (p.Ser1492Ile) c.2732G>T (p.Ser911Ile) c.1937G>T (p.Ser646Ile) c.1958G>T (p.Ser653Ile) n.1060G>T c.1598G>T (p.Ser533Ile) c.2232G>T n.3282G>T n.2566G>T c.574-4G>T c.90G>T c.4886G>T (p.Ser1629Ile) c.578G>T (p.Ser193Ile) c.583G>T c.1777G>T c.4907G>T (p.Ser1636Ile) c.4895G>T (p.Ser1632Ile) c.4835G>T (p.Ser1612Ile) c.4817G>T (p.Ser1606Ile) c.4568G>T (p.Ser1523Ile) c.4796G>T (p.Ser1599Ile) c.4566-4G>T (n.4566-4G>T) c.2015G>T (p.Ser672Ile) c.1619G>T (p.Ser540Ile) c.2168G>T (p.Ser723Ile) c.2147G>T (p.Ser716Ile) | gnomAD v4 |
1 | g.7752462C>A | CA338145079 | CAMTA1 | c.1641C>A (p.Ser547Arg) c.1980C>A (p.Ser660Arg) c.4548C>A (p.Ser1516Arg) c.2209C>A c.*4420C>A (n.*4420C>A) c.4479C>A (p.Ser1493Arg) c.4476C>A (p.Ser1492Arg) c.2733C>A (p.Ser911Arg) c.1938C>A (p.Ser646Arg) c.1959C>A (p.Ser653Arg) n.1061C>A c.1599C>A (p.Ser533Arg) c.2233C>A n.3283C>A n.2567C>A c.574-3C>A c.91C>A c.4887C>A (p.Ser1629Arg) c.579C>A (p.Ser193Arg) c.584C>A c.1778C>A c.4908C>A (p.Ser1636Arg) c.4896C>A (p.Ser1632Arg) c.4836C>A (p.Ser1612Arg) c.4818C>A (p.Ser1606Arg) c.4569C>A (p.Ser1523Arg) c.4797C>A (p.Ser1599Arg) c.4566-3C>A (n.4566-3C>A) c.2016C>A (p.Ser672Arg) c.1620C>A (p.Ser540Arg) c.2169C>A (p.Ser723Arg) c.2148C>A (p.Ser716Arg) | |
1 | g.7752462C>G | CA338145080 | CAMTA1 | c.1641C>G (p.Ser547Arg) c.1980C>G (p.Ser660Arg) c.4548C>G (p.Ser1516Arg) c.2209C>G c.*4420C>G (n.*4420C>G) c.4479C>G (p.Ser1493Arg) c.4476C>G (p.Ser1492Arg) c.2733C>G (p.Ser911Arg) c.1938C>G (p.Ser646Arg) c.1959C>G (p.Ser653Arg) n.1061C>G c.1599C>G (p.Ser533Arg) c.2233C>G n.3283C>G n.2567C>G c.574-3C>G c.91C>G c.4887C>G (p.Ser1629Arg) c.579C>G (p.Ser193Arg) c.584C>G c.1778C>G c.4908C>G (p.Ser1636Arg) c.4896C>G (p.Ser1632Arg) c.4836C>G (p.Ser1612Arg) c.4818C>G (p.Ser1606Arg) c.4569C>G (p.Ser1523Arg) c.4797C>G (p.Ser1599Arg) c.4566-3C>G (n.4566-3C>G) c.2016C>G (p.Ser672Arg) c.1620C>G (p.Ser540Arg) c.2169C>G (p.Ser723Arg) c.2148C>G (p.Ser716Arg) | |
1 | g.7752462C>T | CA415825972 | CAMTA1 | c.1641C>T (p.Ser547=) c.1980C>T (p.Ser660=) c.4548C>T (p.Ser1516=) c.2209C>T c.*4420C>T (n.*4420C>T) c.4479C>T (p.Ser1493=) c.4476C>T (p.Ser1492=) c.2733C>T (p.Ser911=) c.1938C>T (p.Ser646=) c.1959C>T (p.Ser653=) n.1061C>T c.1599C>T (p.Ser533=) c.2233C>T n.3283C>T n.2567C>T c.574-3C>T c.91C>T c.4887C>T (p.Ser1629=) c.579C>T (p.Ser193=) c.584C>T c.1778C>T c.4908C>T (p.Ser1636=) c.4896C>T (p.Ser1632=) c.4836C>T (p.Ser1612=) c.4818C>T (p.Ser1606=) c.4569C>T (p.Ser1523=) c.4797C>T (p.Ser1599=) c.4566-3C>T (n.4566-3C>T) c.2016C>T (p.Ser672=) c.1620C>T (p.Ser540=) c.2169C>T (p.Ser723=) c.2148C>T (p.Ser716=) | |
1 | g.7752463A= | CA1152049601 | CAMTA1 | c.1642A= (p.Ser548=) c.1981A= (p.Ser661=) c.4549A= (p.Ser1517=) c.2210A= c.*4421A= (n.*4421A=) c.4480A= (p.Ser1494=) c.4477A= (p.Ser1493=) c.2734A= (p.Ser912=) c.1939A= (p.Ser647=) c.1960A= (p.Ser654=) n.1062A= c.1600A= (p.Ser534=) c.2234A= n.3284A= n.2568A= c.574-2A= c.92A= c.4888A= (p.Ser1630=) c.580A= (p.Ser194=) c.585A= c.1779A= c.4909A= (p.Ser1637=) c.4897A= (p.Ser1633=) c.4837A= (p.Ser1613=) c.4819A= (p.Ser1607=) c.4570A= (p.Ser1524=) c.4798A= (p.Ser1600=) c.4566-2A= (n.4566-2A=) c.2017A= (p.Ser673=) c.1621A= (p.Ser541=) c.2170A= (p.Ser724=) c.2149A= (p.Ser717=) | |
1 | g.7752463A>C | CA338145084 | CAMTA1 | c.1642A>C (p.Ser548Arg) c.1981A>C (p.Ser661Arg) c.4549A>C (p.Ser1517Arg) c.2210A>C c.*4421A>C (n.*4421A>C) c.4480A>C (p.Ser1494Arg) c.4477A>C (p.Ser1493Arg) c.2734A>C (p.Ser912Arg) c.1939A>C (p.Ser647Arg) c.1960A>C (p.Ser654Arg) n.1062A>C c.1600A>C (p.Ser534Arg) c.2234A>C n.3284A>C n.2568A>C c.574-2A>C c.92A>C c.4888A>C (p.Ser1630Arg) c.580A>C (p.Ser194Arg) c.585A>C c.1779A>C c.4909A>C (p.Ser1637Arg) c.4897A>C (p.Ser1633Arg) c.4837A>C (p.Ser1613Arg) c.4819A>C (p.Ser1607Arg) c.4570A>C (p.Ser1524Arg) c.4798A>C (p.Ser1600Arg) c.4566-2A>C (n.4566-2A>C) c.2017A>C (p.Ser673Arg) c.1621A>C (p.Ser541Arg) c.2170A>C (p.Ser724Arg) c.2149A>C (p.Ser717Arg) | |
1 | g.7752463A>G | CA567281 | CAMTA1 | c.1642A>G (p.Ser548Gly) c.1981A>G (p.Ser661Gly) c.4549A>G (p.Ser1517Gly) c.2210A>G c.*4421A>G (n.*4421A>G) c.4480A>G (p.Ser1494Gly) c.4477A>G (p.Ser1493Gly) c.2734A>G (p.Ser912Gly) c.1939A>G (p.Ser647Gly) c.1960A>G (p.Ser654Gly) n.1062A>G c.1600A>G (p.Ser534Gly) c.2234A>G n.3284A>G n.2568A>G c.574-2A>G c.92A>G c.4888A>G (p.Ser1630Gly) c.580A>G (p.Ser194Gly) c.585A>G c.1779A>G c.4909A>G (p.Ser1637Gly) c.4897A>G (p.Ser1633Gly) c.4837A>G (p.Ser1613Gly) c.4819A>G (p.Ser1607Gly) c.4570A>G (p.Ser1524Gly) c.4798A>G (p.Ser1600Gly) c.4566-2A>G (n.4566-2A>G) c.2017A>G (p.Ser673Gly) c.1621A>G (p.Ser541Gly) c.2170A>G (p.Ser724Gly) c.2149A>G (p.Ser717Gly) | dbSNP ExAC gnomAD v2 |
1 | g.7752463A>T | CA338145091 | CAMTA1 | c.1642A>T (p.Ser548Cys) c.1981A>T (p.Ser661Cys) c.4549A>T (p.Ser1517Cys) c.2210A>T c.*4421A>T (n.*4421A>T) c.4480A>T (p.Ser1494Cys) c.4477A>T (p.Ser1493Cys) c.2734A>T (p.Ser912Cys) c.1939A>T (p.Ser647Cys) c.1960A>T (p.Ser654Cys) n.1062A>T c.1600A>T (p.Ser534Cys) c.2234A>T n.3284A>T n.2568A>T c.574-2A>T c.92A>T c.4888A>T (p.Ser1630Cys) c.580A>T (p.Ser194Cys) c.585A>T c.1779A>T c.4909A>T (p.Ser1637Cys) c.4897A>T (p.Ser1633Cys) c.4837A>T (p.Ser1613Cys) c.4819A>T (p.Ser1607Cys) c.4570A>T (p.Ser1524Cys) c.4798A>T (p.Ser1600Cys) c.4566-2A>T (n.4566-2A>T) c.2017A>T (p.Ser673Cys) c.1621A>T (p.Ser541Cys) c.2170A>T (p.Ser724Cys) c.2149A>T (p.Ser717Cys) | |
1 | g.7752464G>A | CA338145094 | CAMTA1 | c.1643G>A (p.Ser548Asn) c.1982G>A (p.Ser661Asn) c.4550G>A (p.Ser1517Asn) c.2211G>A c.*4422G>A (n.*4422G>A) c.4481G>A (p.Ser1494Asn) c.4478G>A (p.Ser1493Asn) c.2735G>A (p.Ser912Asn) c.1940G>A (p.Ser647Asn) c.1961G>A (p.Ser654Asn) n.1063G>A c.1601G>A (p.Ser534Asn) c.2235G>A n.3285G>A n.2569G>A c.574-1G>A c.93G>A c.4889G>A (p.Ser1630Asn) c.581G>A (p.Ser194Asn) c.586G>A c.1780G>A c.4910G>A (p.Ser1637Asn) c.4898G>A (p.Ser1633Asn) c.4838G>A (p.Ser1613Asn) c.4820G>A (p.Ser1607Asn) c.4571G>A (p.Ser1524Asn) c.4799G>A (p.Ser1600Asn) c.4566-1G>A (n.4566-1G>A) c.2018G>A (p.Ser673Asn) c.1622G>A (p.Ser541Asn) c.2171G>A (p.Ser724Asn) c.2150G>A (p.Ser717Asn) | |
1 | g.7752464G>C | CA338145095 | CAMTA1 | c.1643G>C (p.Ser548Thr) c.1982G>C (p.Ser661Thr) c.4550G>C (p.Ser1517Thr) c.2211G>C c.*4422G>C (n.*4422G>C) c.4481G>C (p.Ser1494Thr) c.4478G>C (p.Ser1493Thr) c.2735G>C (p.Ser912Thr) c.1940G>C (p.Ser647Thr) c.1961G>C (p.Ser654Thr) n.1063G>C c.1601G>C (p.Ser534Thr) c.2235G>C n.3285G>C n.2569G>C c.574-1G>C c.93G>C c.4889G>C (p.Ser1630Thr) c.581G>C (p.Ser194Thr) c.586G>C c.1780G>C c.4910G>C (p.Ser1637Thr) c.4898G>C (p.Ser1633Thr) c.4838G>C (p.Ser1613Thr) c.4820G>C (p.Ser1607Thr) c.4571G>C (p.Ser1524Thr) c.4799G>C (p.Ser1600Thr) c.4566-1G>C (n.4566-1G>C) c.2018G>C (p.Ser673Thr) c.1622G>C (p.Ser541Thr) c.2171G>C (p.Ser724Thr) c.2150G>C (p.Ser717Thr) | |
1 | g.7752464G>T | CA338145096 | CAMTA1 | c.1643G>T (p.Ser548Ile) c.1982G>T (p.Ser661Ile) c.4550G>T (p.Ser1517Ile) c.2211G>T c.*4422G>T (n.*4422G>T) c.4481G>T (p.Ser1494Ile) c.4478G>T (p.Ser1493Ile) c.2735G>T (p.Ser912Ile) c.1940G>T (p.Ser647Ile) c.1961G>T (p.Ser654Ile) n.1063G>T c.1601G>T (p.Ser534Ile) c.2235G>T n.3285G>T n.2569G>T c.574-1G>T c.93G>T c.4889G>T (p.Ser1630Ile) c.581G>T (p.Ser194Ile) c.586G>T c.1780G>T c.4910G>T (p.Ser1637Ile) c.4898G>T (p.Ser1633Ile) c.4838G>T (p.Ser1613Ile) c.4820G>T (p.Ser1607Ile) c.4571G>T (p.Ser1524Ile) c.4799G>T (p.Ser1600Ile) c.4566-1G>T (n.4566-1G>T) c.2018G>T (p.Ser673Ile) c.1622G>T (p.Ser541Ile) c.2171G>T (p.Ser724Ile) c.2150G>T (p.Ser717Ile) | |
1 | g.7752465T>A | CA338145099 | CAMTA1 | c.1644T>A (p.Ser548Arg) c.1983T>A (p.Ser661Arg) c.4551T>A (p.Ser1517Arg) c.2212T>A c.*4423T>A (n.*4423T>A) c.4482T>A (p.Ser1494Arg) c.4479T>A (p.Ser1493Arg) c.2736T>A (p.Ser912Arg) c.1941T>A (p.Ser647Arg) c.1962T>A (p.Ser654Arg) n.1064T>A c.1602T>A (p.Ser534Arg) c.2236T>A n.3286T>A n.2570T>A c.574T>A c.94T>A c.4890T>A (p.Ser1630Arg) c.582T>A (p.Ser194Arg) c.587T>A c.1781T>A c.4911T>A (p.Ser1637Arg) c.4899T>A (p.Ser1633Arg) c.4839T>A (p.Ser1613Arg) c.4821T>A (p.Ser1607Arg) c.4572T>A (p.Ser1524Arg) c.4800T>A (p.Ser1600Arg) c.4566T>A (p.Ser1522Arg) c.2019T>A (p.Ser673Arg) c.1623T>A (p.Ser541Arg) c.2172T>A (p.Ser724Arg) c.2151T>A (p.Ser717Arg) | |
1 | g.7752465T>C | CA415825974 | CAMTA1 | c.1644T>C (p.Ser548=) c.1983T>C (p.Ser661=) c.4551T>C (p.Ser1517=) c.2212T>C c.*4423T>C (n.*4423T>C) c.4482T>C (p.Ser1494=) c.4479T>C (p.Ser1493=) c.2736T>C (p.Ser912=) c.1941T>C (p.Ser647=) c.1962T>C (p.Ser654=) n.1064T>C c.1602T>C (p.Ser534=) c.2236T>C n.3286T>C n.2570T>C c.574T>C c.94T>C c.4890T>C (p.Ser1630=) c.582T>C (p.Ser194=) c.587T>C c.1781T>C c.4911T>C (p.Ser1637=) c.4899T>C (p.Ser1633=) c.4839T>C (p.Ser1613=) c.4821T>C (p.Ser1607=) c.4572T>C (p.Ser1524=) c.4800T>C (p.Ser1600=) c.4566T>C (p.Ser1522=) c.2019T>C (p.Ser673=) c.1623T>C (p.Ser541=) c.2172T>C (p.Ser724=) c.2151T>C (p.Ser717=) | |
1 | g.7752465T>G | CA338145101 | CAMTA1 | c.1644T>G (p.Ser548Arg) c.1983T>G (p.Ser661Arg) c.4551T>G (p.Ser1517Arg) c.2212T>G c.*4423T>G (n.*4423T>G) c.4482T>G (p.Ser1494Arg) c.4479T>G (p.Ser1493Arg) c.2736T>G (p.Ser912Arg) c.1941T>G (p.Ser647Arg) c.1962T>G (p.Ser654Arg) n.1064T>G c.1602T>G (p.Ser534Arg) c.2236T>G n.3286T>G n.2570T>G c.574T>G c.94T>G c.4890T>G (p.Ser1630Arg) c.582T>G (p.Ser194Arg) c.587T>G c.1781T>G c.4911T>G (p.Ser1637Arg) c.4899T>G (p.Ser1633Arg) c.4839T>G (p.Ser1613Arg) c.4821T>G (p.Ser1607Arg) c.4572T>G (p.Ser1524Arg) c.4800T>G (p.Ser1600Arg) c.4566T>G (p.Ser1522Arg) c.2019T>G (p.Ser673Arg) c.1623T>G (p.Ser541Arg) c.2172T>G (p.Ser724Arg) c.2151T>G (p.Ser717Arg) | |
1 | g.7752466T>A | CA338145105 | CAMTA1 | c.1645T>A (p.Leu549Met) c.1984T>A (p.Leu662Met) c.4552T>A (p.Leu1518Met) c.2213T>A c.*4424T>A (n.*4424T>A) c.4483T>A (p.Leu1495Met) c.4480T>A (p.Leu1494Met) c.2737T>A (p.Leu913Met) c.1942T>A (p.Leu648Met) c.1963T>A (p.Leu655Met) n.1065T>A c.1603T>A (p.Leu535Met) c.2237T>A n.3287T>A n.2571T>A c.575T>A c.95T>A c.4891T>A (p.Leu1631Met) c.583T>A (p.Leu195Met) c.588T>A c.1782T>A c.4912T>A (p.Leu1638Met) c.4900T>A (p.Leu1634Met) c.4840T>A (p.Leu1614Met) c.4822T>A (p.Leu1608Met) c.4573T>A (p.Leu1525Met) c.4801T>A (p.Leu1601Met) c.4567T>A (p.Leu1523Met) c.2020T>A (p.Leu674Met) c.1624T>A (p.Leu542Met) c.2173T>A (p.Leu725Met) c.2152T>A (p.Leu718Met) | |
1 | g.7752466T>C | CA415825975 | CAMTA1 | c.1645T>C (p.Leu549=) c.1984T>C (p.Leu662=) c.4552T>C (p.Leu1518=) c.2213T>C c.*4424T>C (n.*4424T>C) c.4483T>C (p.Leu1495=) c.4480T>C (p.Leu1494=) c.2737T>C (p.Leu913=) c.1942T>C (p.Leu648=) c.1963T>C (p.Leu655=) n.1065T>C c.1603T>C (p.Leu535=) c.2237T>C n.3287T>C n.2571T>C c.575T>C c.95T>C c.4891T>C (p.Leu1631=) c.583T>C (p.Leu195=) c.588T>C c.1782T>C c.4912T>C (p.Leu1638=) c.4900T>C (p.Leu1634=) c.4840T>C (p.Leu1614=) c.4822T>C (p.Leu1608=) c.4573T>C (p.Leu1525=) c.4801T>C (p.Leu1601=) c.4567T>C (p.Leu1523=) c.2020T>C (p.Leu674=) c.1624T>C (p.Leu542=) c.2173T>C (p.Leu725=) c.2152T>C (p.Leu718=) | gnomAD v4 |
1 | g.7752466T>G | CA338145107 | CAMTA1 | c.1645T>G (p.Leu549Val) c.1984T>G (p.Leu662Val) c.4552T>G (p.Leu1518Val) c.2213T>G c.*4424T>G (n.*4424T>G) c.4483T>G (p.Leu1495Val) c.4480T>G (p.Leu1494Val) c.2737T>G (p.Leu913Val) c.1942T>G (p.Leu648Val) c.1963T>G (p.Leu655Val) n.1065T>G c.1603T>G (p.Leu535Val) c.2237T>G n.3287T>G n.2571T>G c.575T>G c.95T>G c.4891T>G (p.Leu1631Val) c.583T>G (p.Leu195Val) c.588T>G c.1782T>G c.4912T>G (p.Leu1638Val) c.4900T>G (p.Leu1634Val) c.4840T>G (p.Leu1614Val) c.4822T>G (p.Leu1608Val) c.4573T>G (p.Leu1525Val) c.4801T>G (p.Leu1601Val) c.4567T>G (p.Leu1523Val) c.2020T>G (p.Leu674Val) c.1624T>G (p.Leu542Val) c.2173T>G (p.Leu725Val) c.2152T>G (p.Leu718Val) | |
1 | g.7752467T>A | CA338145112 | CAMTA1 | c.1646T>A (p.Leu549Ter) c.1985T>A (p.Leu662Ter) c.4553T>A (p.Leu1518Ter) c.2214T>A c.*4425T>A (n.*4425T>A) c.4484T>A (p.Leu1495Ter) c.4481T>A (p.Leu1494Ter) c.2738T>A (p.Leu913Ter) c.1943T>A (p.Leu648Ter) c.1964T>A (p.Leu655Ter) n.1066T>A c.1604T>A (p.Leu535Ter) c.2238T>A n.3288T>A n.2572T>A c.576T>A c.96T>A c.4892T>A (p.Leu1631Ter) c.584T>A (p.Leu195Ter) c.589T>A c.1783T>A c.4913T>A (p.Leu1638Ter) c.4901T>A (p.Leu1634Ter) c.4841T>A (p.Leu1614Ter) c.4823T>A (p.Leu1608Ter) c.4574T>A (p.Leu1525Ter) c.4802T>A (p.Leu1601Ter) c.4568T>A (p.Leu1523Ter) c.2021T>A (p.Leu674Ter) c.1625T>A (p.Leu542Ter) c.2174T>A (p.Leu725Ter) c.2153T>A (p.Leu718Ter) | |
1 | g.7752467T>C | CA338145118 | CAMTA1 | c.1646T>C (p.Leu549Ser) c.1985T>C (p.Leu662Ser) c.4553T>C (p.Leu1518Ser) c.2214T>C c.*4425T>C (n.*4425T>C) c.4484T>C (p.Leu1495Ser) c.4481T>C (p.Leu1494Ser) c.2738T>C (p.Leu913Ser) c.1943T>C (p.Leu648Ser) c.1964T>C (p.Leu655Ser) n.1066T>C c.1604T>C (p.Leu535Ser) c.2238T>C n.3288T>C n.2572T>C c.576T>C c.96T>C c.4892T>C (p.Leu1631Ser) c.584T>C (p.Leu195Ser) c.589T>C c.1783T>C c.4913T>C (p.Leu1638Ser) c.4901T>C (p.Leu1634Ser) c.4841T>C (p.Leu1614Ser) c.4823T>C (p.Leu1608Ser) c.4574T>C (p.Leu1525Ser) c.4802T>C (p.Leu1601Ser) c.4568T>C (p.Leu1523Ser) c.2021T>C (p.Leu674Ser) c.1625T>C (p.Leu542Ser) c.2174T>C (p.Leu725Ser) c.2153T>C (p.Leu718Ser) | |
1 | g.7752467T>G | CA338145115 | CAMTA1 | c.1646T>G (p.Leu549Trp) c.1985T>G (p.Leu662Trp) c.4553T>G (p.Leu1518Trp) c.2214T>G c.*4425T>G (n.*4425T>G) c.4484T>G (p.Leu1495Trp) c.4481T>G (p.Leu1494Trp) c.2738T>G (p.Leu913Trp) c.1943T>G (p.Leu648Trp) c.1964T>G (p.Leu655Trp) n.1066T>G c.1604T>G (p.Leu535Trp) c.2238T>G n.3288T>G n.2572T>G c.576T>G c.96T>G c.4892T>G (p.Leu1631Trp) c.584T>G (p.Leu195Trp) c.589T>G c.1783T>G c.4913T>G (p.Leu1638Trp) c.4901T>G (p.Leu1634Trp) c.4841T>G (p.Leu1614Trp) c.4823T>G (p.Leu1608Trp) c.4574T>G (p.Leu1525Trp) c.4802T>G (p.Leu1601Trp) c.4568T>G (p.Leu1523Trp) c.2021T>G (p.Leu674Trp) c.1625T>G (p.Leu542Trp) c.2174T>G (p.Leu725Trp) c.2153T>G (p.Leu718Trp) | |
1 | g.7752468G>A | CA415825978 | CAMTA1 | c.1647G>A (p.Leu549=) c.1986G>A (p.Leu662=) c.4554G>A (p.Leu1518=) c.2215G>A c.*4426G>A (n.*4426G>A) c.4485G>A (p.Leu1495=) c.4482G>A (p.Leu1494=) c.2739G>A (p.Leu913=) c.1944G>A (p.Leu648=) c.1965G>A (p.Leu655=) n.1067G>A c.1605G>A (p.Leu535=) c.2239G>A n.3289G>A n.2573G>A c.577G>A c.97G>A c.4893G>A (p.Leu1631=) c.585G>A (p.Leu195=) c.590G>A c.1784G>A c.4914G>A (p.Leu1638=) c.4902G>A (p.Leu1634=) c.4842G>A (p.Leu1614=) c.4824G>A (p.Leu1608=) c.4575G>A (p.Leu1525=) c.4803G>A (p.Leu1601=) c.4569G>A (p.Leu1523=) c.2022G>A (p.Leu674=) c.1626G>A (p.Leu542=) c.2175G>A (p.Leu725=) c.2154G>A (p.Leu718=) | |
1 | g.7752468G>C | CA338145122 | CAMTA1 | c.1647G>C (p.Leu549Phe) c.1986G>C (p.Leu662Phe) c.4554G>C (p.Leu1518Phe) c.2215G>C c.*4426G>C (n.*4426G>C) c.4485G>C (p.Leu1495Phe) c.4482G>C (p.Leu1494Phe) c.2739G>C (p.Leu913Phe) c.1944G>C (p.Leu648Phe) c.1965G>C (p.Leu655Phe) n.1067G>C c.1605G>C (p.Leu535Phe) c.2239G>C n.3289G>C n.2573G>C c.577G>C c.97G>C c.4893G>C (p.Leu1631Phe) c.585G>C (p.Leu195Phe) c.590G>C c.1784G>C c.4914G>C (p.Leu1638Phe) c.4902G>C (p.Leu1634Phe) c.4842G>C (p.Leu1614Phe) c.4824G>C (p.Leu1608Phe) c.4575G>C (p.Leu1525Phe) c.4803G>C (p.Leu1601Phe) c.4569G>C (p.Leu1523Phe) c.2022G>C (p.Leu674Phe) c.1626G>C (p.Leu542Phe) c.2175G>C (p.Leu725Phe) c.2154G>C (p.Leu718Phe) | |
1 | g.7752468G>T | CA338145125 | CAMTA1 | c.1647G>T (p.Leu549Phe) c.1986G>T (p.Leu662Phe) c.4554G>T (p.Leu1518Phe) c.2215G>T c.*4426G>T (n.*4426G>T) c.4485G>T (p.Leu1495Phe) c.4482G>T (p.Leu1494Phe) c.2739G>T (p.Leu913Phe) c.1944G>T (p.Leu648Phe) c.1965G>T (p.Leu655Phe) n.1067G>T c.1605G>T (p.Leu535Phe) c.2239G>T n.3289G>T n.2573G>T c.577G>T c.97G>T c.4893G>T (p.Leu1631Phe) c.585G>T (p.Leu195Phe) c.590G>T c.1784G>T c.4914G>T (p.Leu1638Phe) c.4902G>T (p.Leu1634Phe) c.4842G>T (p.Leu1614Phe) c.4824G>T (p.Leu1608Phe) c.4575G>T (p.Leu1525Phe) c.4803G>T (p.Leu1601Phe) c.4569G>T (p.Leu1523Phe) c.2022G>T (p.Leu674Phe) c.1626G>T (p.Leu542Phe) c.2175G>T (p.Leu725Phe) c.2154G>T (p.Leu718Phe) | COSMIC COSMIC |
1 | g.7752469C>A | CA338145130 | CAMTA1 | c.1648C>A (p.Leu550Ile) c.1987C>A (p.Leu663Ile) c.4555C>A (p.Leu1519Ile) c.2216C>A c.*4427C>A (n.*4427C>A) c.4486C>A (p.Leu1496Ile) c.4483C>A (p.Leu1495Ile) c.2740C>A (p.Leu914Ile) c.1945C>A (p.Leu649Ile) c.1966C>A (p.Leu656Ile) n.1068C>A c.1606C>A (p.Leu536Ile) c.2240C>A n.3290C>A n.2574C>A c.578C>A c.98C>A c.4894C>A (p.Leu1632Ile) c.586C>A (p.Leu196Ile) c.591C>A c.1785C>A c.4915C>A (p.Leu1639Ile) c.4903C>A (p.Leu1635Ile) c.4843C>A (p.Leu1615Ile) c.4825C>A (p.Leu1609Ile) c.4576C>A (p.Leu1526Ile) c.4804C>A (p.Leu1602Ile) c.4570C>A (p.Leu1524Ile) c.2023C>A (p.Leu675Ile) c.1627C>A (p.Leu543Ile) c.2176C>A (p.Leu726Ile) c.2155C>A (p.Leu719Ile) | |
1 | g.7752469C>G | CA338145134 | CAMTA1 | c.1648C>G (p.Leu550Val) c.1987C>G (p.Leu663Val) c.4555C>G (p.Leu1519Val) c.2216C>G c.*4427C>G (n.*4427C>G) c.4486C>G (p.Leu1496Val) c.4483C>G (p.Leu1495Val) c.2740C>G (p.Leu914Val) c.1945C>G (p.Leu649Val) c.1966C>G (p.Leu656Val) n.1068C>G c.1606C>G (p.Leu536Val) c.2240C>G n.3290C>G n.2574C>G c.578C>G c.98C>G c.4894C>G (p.Leu1632Val) c.586C>G (p.Leu196Val) c.591C>G c.1785C>G c.4915C>G (p.Leu1639Val) c.4903C>G (p.Leu1635Val) c.4843C>G (p.Leu1615Val) c.4825C>G (p.Leu1609Val) c.4576C>G (p.Leu1526Val) c.4804C>G (p.Leu1602Val) c.4570C>G (p.Leu1524Val) c.2023C>G (p.Leu675Val) c.1627C>G (p.Leu543Val) c.2176C>G (p.Leu726Val) c.2155C>G (p.Leu719Val) | |
1 | g.7752469C>T | CA415825980 | CAMTA1 | c.1648C>T (p.Leu550=) c.1987C>T (p.Leu663=) c.4555C>T (p.Leu1519=) c.2216C>T c.*4427C>T (n.*4427C>T) c.4486C>T (p.Leu1496=) c.4483C>T (p.Leu1495=) c.2740C>T (p.Leu914=) c.1945C>T (p.Leu649=) c.1966C>T (p.Leu656=) n.1068C>T c.1606C>T (p.Leu536=) c.2240C>T n.3290C>T n.2574C>T c.578C>T c.98C>T c.4894C>T (p.Leu1632=) c.586C>T (p.Leu196=) c.591C>T c.1785C>T c.4915C>T (p.Leu1639=) c.4903C>T (p.Leu1635=) c.4843C>T (p.Leu1615=) c.4825C>T (p.Leu1609=) c.4576C>T (p.Leu1526=) c.4804C>T (p.Leu1602=) c.4570C>T (p.Leu1524=) c.2023C>T (p.Leu675=) c.1627C>T (p.Leu543=) c.2176C>T (p.Leu726=) c.2155C>T (p.Leu719=) | gnomAD v4 |
1 | g.7752470T>A | CA338145139 | CAMTA1 | c.1649T>A (p.Leu550Gln) c.1988T>A (p.Leu663Gln) c.4556T>A (p.Leu1519Gln) c.2217T>A c.*4428T>A (n.*4428T>A) c.4487T>A (p.Leu1496Gln) c.4484T>A (p.Leu1495Gln) c.2741T>A (p.Leu914Gln) c.1946T>A (p.Leu649Gln) c.1967T>A (p.Leu656Gln) n.1069T>A c.1607T>A (p.Leu536Gln) c.2241T>A n.3291T>A n.2575T>A c.579T>A c.99T>A c.4895T>A (p.Leu1632Gln) c.587T>A (p.Leu196Gln) c.592T>A c.1786T>A c.4916T>A (p.Leu1639Gln) c.4904T>A (p.Leu1635Gln) c.4844T>A (p.Leu1615Gln) c.4826T>A (p.Leu1609Gln) c.4577T>A (p.Leu1526Gln) c.4805T>A (p.Leu1602Gln) c.4571T>A (p.Leu1524Gln) c.2024T>A (p.Leu675Gln) c.1628T>A (p.Leu543Gln) c.2177T>A (p.Leu726Gln) c.2156T>A (p.Leu719Gln) | |
1 | g.7752470T>C | CA338145142 | CAMTA1 | c.1649T>C (p.Leu550Pro) c.1988T>C (p.Leu663Pro) c.4556T>C (p.Leu1519Pro) c.2217T>C c.*4428T>C (n.*4428T>C) c.4487T>C (p.Leu1496Pro) c.4484T>C (p.Leu1495Pro) c.2741T>C (p.Leu914Pro) c.1946T>C (p.Leu649Pro) c.1967T>C (p.Leu656Pro) n.1069T>C c.1607T>C (p.Leu536Pro) c.2241T>C n.3291T>C n.2575T>C c.579T>C c.99T>C c.4895T>C (p.Leu1632Pro) c.587T>C (p.Leu196Pro) c.592T>C c.1786T>C c.4916T>C (p.Leu1639Pro) c.4904T>C (p.Leu1635Pro) c.4844T>C (p.Leu1615Pro) c.4826T>C (p.Leu1609Pro) c.4577T>C (p.Leu1526Pro) c.4805T>C (p.Leu1602Pro) c.4571T>C (p.Leu1524Pro) c.2024T>C (p.Leu675Pro) c.1628T>C (p.Leu543Pro) c.2177T>C (p.Leu726Pro) c.2156T>C (p.Leu719Pro) | gnomAD v4 |
1 | g.7752470T>G | CA338145151 | CAMTA1 | c.1649T>G (p.Leu550Arg) c.1988T>G (p.Leu663Arg) c.4556T>G (p.Leu1519Arg) c.2217T>G c.*4428T>G (n.*4428T>G) c.4487T>G (p.Leu1496Arg) c.4484T>G (p.Leu1495Arg) c.2741T>G (p.Leu914Arg) c.1946T>G (p.Leu649Arg) c.1967T>G (p.Leu656Arg) n.1069T>G c.1607T>G (p.Leu536Arg) c.2241T>G n.3291T>G n.2575T>G c.579T>G c.99T>G c.4895T>G (p.Leu1632Arg) c.587T>G (p.Leu196Arg) c.592T>G c.1786T>G c.4916T>G (p.Leu1639Arg) c.4904T>G (p.Leu1635Arg) c.4844T>G (p.Leu1615Arg) c.4826T>G (p.Leu1609Arg) c.4577T>G (p.Leu1526Arg) c.4805T>G (p.Leu1602Arg) c.4571T>G (p.Leu1524Arg) c.2024T>G (p.Leu675Arg) c.1628T>G (p.Leu543Arg) c.2177T>G (p.Leu726Arg) c.2156T>G (p.Leu719Arg) | |
1 | g.7752471A>C | CA415825981 | CAMTA1 | c.1650A>C (p.Leu550=) c.1989A>C (p.Leu663=) c.4557A>C (p.Leu1519=) c.2218A>C c.*4429A>C (n.*4429A>C) c.4488A>C (p.Leu1496=) c.4485A>C (p.Leu1495=) c.2742A>C (p.Leu914=) c.1947A>C (p.Leu649=) c.1968A>C (p.Leu656=) n.1070A>C c.1608A>C (p.Leu536=) c.2242A>C n.3292A>C n.2576A>C c.580A>C c.100A>C c.4896A>C (p.Leu1632=) c.588A>C (p.Leu196=) c.593A>C c.1787A>C c.4917A>C (p.Leu1639=) c.4905A>C (p.Leu1635=) c.4845A>C (p.Leu1615=) c.4827A>C (p.Leu1609=) c.4578A>C (p.Leu1526=) c.4806A>C (p.Leu1602=) c.4572A>C (p.Leu1524=) c.2025A>C (p.Leu675=) c.1629A>C (p.Leu543=) c.2178A>C (p.Leu726=) c.2157A>C (p.Leu719=) | |
1 | g.7752471A>G | CA415825982 | CAMTA1 | c.1650A>G (p.Leu550=) c.1989A>G (p.Leu663=) c.4557A>G (p.Leu1519=) c.2218A>G c.*4429A>G (n.*4429A>G) c.4488A>G (p.Leu1496=) c.4485A>G (p.Leu1495=) c.2742A>G (p.Leu914=) c.1947A>G (p.Leu649=) c.1968A>G (p.Leu656=) n.1070A>G c.1608A>G (p.Leu536=) c.2242A>G n.3292A>G n.2576A>G c.580A>G c.100A>G c.4896A>G (p.Leu1632=) c.588A>G (p.Leu196=) c.593A>G c.1787A>G c.4917A>G (p.Leu1639=) c.4905A>G (p.Leu1635=) c.4845A>G (p.Leu1615=) c.4827A>G (p.Leu1609=) c.4578A>G (p.Leu1526=) c.4806A>G (p.Leu1602=) c.4572A>G (p.Leu1524=) c.2025A>G (p.Leu675=) c.1629A>G (p.Leu543=) c.2178A>G (p.Leu726=) c.2157A>G (p.Leu719=) | |
1 | g.7752471A>T | CA415825986 | CAMTA1 | c.1650A>T (p.Leu550=) c.1989A>T (p.Leu663=) c.4557A>T (p.Leu1519=) c.2218A>T c.*4429A>T (n.*4429A>T) c.4488A>T (p.Leu1496=) c.4485A>T (p.Leu1495=) c.2742A>T (p.Leu914=) c.1947A>T (p.Leu649=) c.1968A>T (p.Leu656=) n.1070A>T c.1608A>T (p.Leu536=) c.2242A>T n.3292A>T n.2576A>T c.580A>T c.100A>T c.4896A>T (p.Leu1632=) c.588A>T (p.Leu196=) c.593A>T c.1787A>T c.4917A>T (p.Leu1639=) c.4905A>T (p.Leu1635=) c.4845A>T (p.Leu1615=) c.4827A>T (p.Leu1609=) c.4578A>T (p.Leu1526=) c.4806A>T (p.Leu1602=) c.4572A>T (p.Leu1524=) c.2025A>T (p.Leu675=) c.1629A>T (p.Leu543=) c.2178A>T (p.Leu726=) c.2157A>T (p.Leu719=) | |
1 | g.7752472A>C | CA338145155 | CAMTA1 | c.1651A>C (p.Thr551Pro) c.1990A>C (p.Thr664Pro) c.4558A>C (p.Thr1520Pro) c.2219A>C c.*4430A>C (n.*4430A>C) c.4489A>C (p.Thr1497Pro) c.4486A>C (p.Thr1496Pro) c.2743A>C (p.Thr915Pro) c.1948A>C (p.Thr650Pro) c.1969A>C (p.Thr657Pro) n.1071A>C c.1609A>C (p.Thr537Pro) c.2243A>C n.3293A>C n.2577A>C c.581A>C c.101A>C c.4897A>C (p.Thr1633Pro) c.589A>C (p.Thr197Pro) c.594A>C c.1788A>C c.4918A>C (p.Thr1640Pro) c.4906A>C (p.Thr1636Pro) c.4846A>C (p.Thr1616Pro) c.4828A>C (p.Thr1610Pro) c.4579A>C (p.Thr1527Pro) c.4807A>C (p.Thr1603Pro) c.4573A>C (p.Thr1525Pro) c.2026A>C (p.Thr676Pro) c.1630A>C (p.Thr544Pro) c.2179A>C (p.Thr727Pro) c.2158A>C (p.Thr720Pro) | |
1 | g.7752472A>G | CA338145157 | CAMTA1 | c.1651A>G (p.Thr551Ala) c.1990A>G (p.Thr664Ala) c.4558A>G (p.Thr1520Ala) c.2219A>G c.*4430A>G (n.*4430A>G) c.4489A>G (p.Thr1497Ala) c.4486A>G (p.Thr1496Ala) c.2743A>G (p.Thr915Ala) c.1948A>G (p.Thr650Ala) c.1969A>G (p.Thr657Ala) n.1071A>G c.1609A>G (p.Thr537Ala) c.2243A>G n.3293A>G n.2577A>G c.581A>G c.101A>G c.4897A>G (p.Thr1633Ala) c.589A>G (p.Thr197Ala) c.594A>G c.1788A>G c.4918A>G (p.Thr1640Ala) c.4906A>G (p.Thr1636Ala) c.4846A>G (p.Thr1616Ala) c.4828A>G (p.Thr1610Ala) c.4579A>G (p.Thr1527Ala) c.4807A>G (p.Thr1603Ala) c.4573A>G (p.Thr1525Ala) c.2026A>G (p.Thr676Ala) c.1630A>G (p.Thr544Ala) c.2179A>G (p.Thr727Ala) c.2158A>G (p.Thr720Ala) | |
1 | g.7752472A>T | CA338145162 | CAMTA1 | c.1651A>T (p.Thr551Ser) c.1990A>T (p.Thr664Ser) c.4558A>T (p.Thr1520Ser) c.2219A>T c.*4430A>T (n.*4430A>T) c.4489A>T (p.Thr1497Ser) c.4486A>T (p.Thr1496Ser) c.2743A>T (p.Thr915Ser) c.1948A>T (p.Thr650Ser) c.1969A>T (p.Thr657Ser) n.1071A>T c.1609A>T (p.Thr537Ser) c.2243A>T n.3293A>T n.2577A>T c.581A>T c.101A>T c.4897A>T (p.Thr1633Ser) c.589A>T (p.Thr197Ser) c.594A>T c.1788A>T c.4918A>T (p.Thr1640Ser) c.4906A>T (p.Thr1636Ser) c.4846A>T (p.Thr1616Ser) c.4828A>T (p.Thr1610Ser) c.4579A>T (p.Thr1527Ser) c.4807A>T (p.Thr1603Ser) c.4573A>T (p.Thr1525Ser) c.2026A>T (p.Thr676Ser) c.1630A>T (p.Thr544Ser) c.2179A>T (p.Thr727Ser) c.2158A>T (p.Thr720Ser) | |
1 | g.7752473C>A | CA338145167 | CAMTA1 | c.1652C>A (p.Thr551Asn) c.1991C>A (p.Thr664Asn) c.4559C>A (p.Thr1520Asn) c.2220C>A c.*4431C>A (n.*4431C>A) c.4490C>A (p.Thr1497Asn) c.4487C>A (p.Thr1496Asn) c.2744C>A (p.Thr915Asn) c.1949C>A (p.Thr650Asn) c.1970C>A (p.Thr657Asn) n.1072C>A c.1610C>A (p.Thr537Asn) c.2244C>A n.3294C>A n.2578C>A c.582C>A c.102C>A c.4898C>A (p.Thr1633Asn) c.590C>A (p.Thr197Asn) c.595C>A c.1789C>A c.4919C>A (p.Thr1640Asn) c.4907C>A (p.Thr1636Asn) c.4847C>A (p.Thr1616Asn) c.4829C>A (p.Thr1610Asn) c.4580C>A (p.Thr1527Asn) c.4808C>A (p.Thr1603Asn) c.4574C>A (p.Thr1525Asn) c.2027C>A (p.Thr676Asn) c.1631C>A (p.Thr544Asn) c.2180C>A (p.Thr727Asn) c.2159C>A (p.Thr720Asn) | |
1 | g.7752473C>G | CA338145169 | CAMTA1 | c.1652C>G (p.Thr551Ser) c.1991C>G (p.Thr664Ser) c.4559C>G (p.Thr1520Ser) c.2220C>G c.*4431C>G (n.*4431C>G) c.4490C>G (p.Thr1497Ser) c.4487C>G (p.Thr1496Ser) c.2744C>G (p.Thr915Ser) c.1949C>G (p.Thr650Ser) c.1970C>G (p.Thr657Ser) n.1072C>G c.1610C>G (p.Thr537Ser) c.2244C>G n.3294C>G n.2578C>G c.582C>G c.102C>G c.4898C>G (p.Thr1633Ser) c.590C>G (p.Thr197Ser) c.595C>G c.1789C>G c.4919C>G (p.Thr1640Ser) c.4907C>G (p.Thr1636Ser) c.4847C>G (p.Thr1616Ser) c.4829C>G (p.Thr1610Ser) c.4580C>G (p.Thr1527Ser) c.4808C>G (p.Thr1603Ser) c.4574C>G (p.Thr1525Ser) c.2027C>G (p.Thr676Ser) c.1631C>G (p.Thr544Ser) c.2180C>G (p.Thr727Ser) c.2159C>G (p.Thr720Ser) | |
1 | g.7752473C>T | CA338145172 | CAMTA1 | c.1652C>T (p.Thr551Ile) c.1991C>T (p.Thr664Ile) c.4559C>T (p.Thr1520Ile) c.2220C>T c.*4431C>T (n.*4431C>T) c.4490C>T (p.Thr1497Ile) c.4487C>T (p.Thr1496Ile) c.2744C>T (p.Thr915Ile) c.1949C>T (p.Thr650Ile) c.1970C>T (p.Thr657Ile) n.1072C>T c.1610C>T (p.Thr537Ile) c.2244C>T n.3294C>T n.2578C>T c.582C>T c.102C>T c.4898C>T (p.Thr1633Ile) c.590C>T (p.Thr197Ile) c.595C>T c.1789C>T c.4919C>T (p.Thr1640Ile) c.4907C>T (p.Thr1636Ile) c.4847C>T (p.Thr1616Ile) c.4829C>T (p.Thr1610Ile) c.4580C>T (p.Thr1527Ile) c.4808C>T (p.Thr1603Ile) c.4574C>T (p.Thr1525Ile) c.2027C>T (p.Thr676Ile) c.1631C>T (p.Thr544Ile) c.2180C>T (p.Thr727Ile) c.2159C>T (p.Thr720Ile) | |
1 | g.7752474C>A | CA415825987 | CAMTA1 | c.1653C>A (p.Thr551=) c.1992C>A (p.Thr664=) c.4560C>A (p.Thr1520=) c.2221C>A c.*4432C>A (n.*4432C>A) c.4491C>A (p.Thr1497=) c.4488C>A (p.Thr1496=) c.2745C>A (p.Thr915=) c.1950C>A (p.Thr650=) c.1971C>A (p.Thr657=) n.1073C>A c.1611C>A (p.Thr537=) c.2245C>A n.3295C>A n.2579C>A c.583C>A c.103C>A c.4899C>A (p.Thr1633=) c.591C>A (p.Thr197=) c.596C>A c.1790C>A c.4920C>A (p.Thr1640=) c.4908C>A (p.Thr1636=) c.4848C>A (p.Thr1616=) c.4830C>A (p.Thr1610=) c.4581C>A (p.Thr1527=) c.4809C>A (p.Thr1603=) c.4575C>A (p.Thr1525=) c.2028C>A (p.Thr676=) c.1632C>A (p.Thr544=) c.2181C>A (p.Thr727=) c.2160C>A (p.Thr720=) | gnomAD v4 |
1 | g.7752474C>G | CA415825988 | CAMTA1 | c.1653C>G (p.Thr551=) c.1992C>G (p.Thr664=) c.4560C>G (p.Thr1520=) c.2221C>G c.*4432C>G (n.*4432C>G) c.4491C>G (p.Thr1497=) c.4488C>G (p.Thr1496=) c.2745C>G (p.Thr915=) c.1950C>G (p.Thr650=) c.1971C>G (p.Thr657=) n.1073C>G c.1611C>G (p.Thr537=) c.2245C>G n.3295C>G n.2579C>G c.583C>G c.103C>G c.4899C>G (p.Thr1633=) c.591C>G (p.Thr197=) c.596C>G c.1790C>G c.4920C>G (p.Thr1640=) c.4908C>G (p.Thr1636=) c.4848C>G (p.Thr1616=) c.4830C>G (p.Thr1610=) c.4581C>G (p.Thr1527=) c.4809C>G (p.Thr1603=) c.4575C>G (p.Thr1525=) c.2028C>G (p.Thr676=) c.1632C>G (p.Thr544=) c.2181C>G (p.Thr727=) c.2160C>G (p.Thr720=) | |
1 | g.7752474C>T | CA415825989 | CAMTA1 | c.1653C>T (p.Thr551=) c.1992C>T (p.Thr664=) c.4560C>T (p.Thr1520=) c.2221C>T c.*4432C>T (n.*4432C>T) c.4491C>T (p.Thr1497=) c.4488C>T (p.Thr1496=) c.2745C>T (p.Thr915=) c.1950C>T (p.Thr650=) c.1971C>T (p.Thr657=) n.1073C>T c.1611C>T (p.Thr537=) c.2245C>T n.3295C>T n.2579C>T c.583C>T c.103C>T c.4899C>T (p.Thr1633=) c.591C>T (p.Thr197=) c.596C>T c.1790C>T c.4920C>T (p.Thr1640=) c.4908C>T (p.Thr1636=) c.4848C>T (p.Thr1616=) c.4830C>T (p.Thr1610=) c.4581C>T (p.Thr1527=) c.4809C>T (p.Thr1603=) c.4575C>T (p.Thr1525=) c.2028C>T (p.Thr676=) c.1632C>T (p.Thr544=) c.2181C>T (p.Thr727=) c.2160C>T (p.Thr720=) | |
1 | g.7752475A>C | CA338145176 | CAMTA1 | c.1654A>C (p.Lys552Gln) c.1993A>C (p.Lys665Gln) c.4561A>C (p.Lys1521Gln) c.2222A>C c.*4433A>C (n.*4433A>C) c.4492A>C (p.Lys1498Gln) c.4489A>C (p.Lys1497Gln) c.2746A>C (p.Lys916Gln) c.1951A>C (p.Lys651Gln) c.1972A>C (p.Lys658Gln) n.1074A>C c.1612A>C (p.Lys538Gln) c.2246A>C n.3296A>C n.2580A>C c.584A>C c.104A>C c.4900A>C (p.Lys1634Gln) c.592A>C (p.Lys198Gln) c.597A>C c.1791A>C c.4921A>C (p.Lys1641Gln) c.4909A>C (p.Lys1637Gln) c.4849A>C (p.Lys1617Gln) c.4831A>C (p.Lys1611Gln) c.4582A>C (p.Lys1528Gln) c.4810A>C (p.Lys1604Gln) c.4576A>C (p.Lys1526Gln) c.2029A>C (p.Lys677Gln) c.1633A>C (p.Lys545Gln) c.2182A>C (p.Lys728Gln) c.2161A>C (p.Lys721Gln) | |
1 | g.7752475A>G | CA338145182 | CAMTA1 | c.1654A>G (p.Lys552Glu) c.1993A>G (p.Lys665Glu) c.4561A>G (p.Lys1521Glu) c.2222A>G c.*4433A>G (n.*4433A>G) c.4492A>G (p.Lys1498Glu) c.4489A>G (p.Lys1497Glu) c.2746A>G (p.Lys916Glu) c.1951A>G (p.Lys651Glu) c.1972A>G (p.Lys658Glu) n.1074A>G c.1612A>G (p.Lys538Glu) c.2246A>G n.3296A>G n.2580A>G c.584A>G c.104A>G c.4900A>G (p.Lys1634Glu) c.592A>G (p.Lys198Glu) c.597A>G c.1791A>G c.4921A>G (p.Lys1641Glu) c.4909A>G (p.Lys1637Glu) c.4849A>G (p.Lys1617Glu) c.4831A>G (p.Lys1611Glu) c.4582A>G (p.Lys1528Glu) c.4810A>G (p.Lys1604Glu) c.4576A>G (p.Lys1526Glu) c.2029A>G (p.Lys677Glu) c.1633A>G (p.Lys545Glu) c.2182A>G (p.Lys728Glu) c.2161A>G (p.Lys721Glu) | |
1 | g.7752475A>T | CA338145178 | CAMTA1 | c.1654A>T (p.Lys552Ter) c.1993A>T (p.Lys665Ter) c.4561A>T (p.Lys1521Ter) c.2222A>T c.*4433A>T (n.*4433A>T) c.4492A>T (p.Lys1498Ter) c.4489A>T (p.Lys1497Ter) c.2746A>T (p.Lys916Ter) c.1951A>T (p.Lys651Ter) c.1972A>T (p.Lys658Ter) n.1074A>T c.1612A>T (p.Lys538Ter) c.2246A>T n.3296A>T n.2580A>T c.584A>T c.104A>T c.4900A>T (p.Lys1634Ter) c.592A>T (p.Lys198Ter) c.597A>T c.1791A>T c.4921A>T (p.Lys1641Ter) c.4909A>T (p.Lys1637Ter) c.4849A>T (p.Lys1617Ter) c.4831A>T (p.Lys1611Ter) c.4582A>T (p.Lys1528Ter) c.4810A>T (p.Lys1604Ter) c.4576A>T (p.Lys1526Ter) c.2029A>T (p.Lys677Ter) c.1633A>T (p.Lys545Ter) c.2182A>T (p.Lys728Ter) c.2161A>T (p.Lys721Ter) | |
1 | g.7752476A>C | CA338145185 | CAMTA1 | c.1655A>C (p.Lys552Thr) c.1994A>C (p.Lys665Thr) c.4562A>C (p.Lys1521Thr) c.2223A>C c.*4434A>C (n.*4434A>C) c.4493A>C (p.Lys1498Thr) c.4490A>C (p.Lys1497Thr) c.2747A>C (p.Lys916Thr) c.1952A>C (p.Lys651Thr) c.1973A>C (p.Lys658Thr) n.1075A>C c.1613A>C (p.Lys538Thr) c.2247A>C n.3297A>C n.2581A>C c.585A>C c.105A>C c.4901A>C (p.Lys1634Thr) c.593A>C (p.Lys198Thr) c.598A>C c.1792A>C c.4922A>C (p.Lys1641Thr) c.4910A>C (p.Lys1637Thr) c.4850A>C (p.Lys1617Thr) c.4832A>C (p.Lys1611Thr) c.4583A>C (p.Lys1528Thr) c.4811A>C (p.Lys1604Thr) c.4577A>C (p.Lys1526Thr) c.2030A>C (p.Lys677Thr) c.1634A>C (p.Lys545Thr) c.2183A>C (p.Lys728Thr) c.2162A>C (p.Lys721Thr) | |
1 | g.7752476A>G | CA338145187 | CAMTA1 | c.1655A>G (p.Lys552Arg) c.1994A>G (p.Lys665Arg) c.4562A>G (p.Lys1521Arg) c.2223A>G c.*4434A>G (n.*4434A>G) c.4493A>G (p.Lys1498Arg) c.4490A>G (p.Lys1497Arg) c.2747A>G (p.Lys916Arg) c.1952A>G (p.Lys651Arg) c.1973A>G (p.Lys658Arg) n.1075A>G c.1613A>G (p.Lys538Arg) c.2247A>G n.3297A>G n.2581A>G c.585A>G c.105A>G c.4901A>G (p.Lys1634Arg) c.593A>G (p.Lys198Arg) c.598A>G c.1792A>G c.4922A>G (p.Lys1641Arg) c.4910A>G (p.Lys1637Arg) c.4850A>G (p.Lys1617Arg) c.4832A>G (p.Lys1611Arg) c.4583A>G (p.Lys1528Arg) c.4811A>G (p.Lys1604Arg) c.4577A>G (p.Lys1526Arg) c.2030A>G (p.Lys677Arg) c.1634A>G (p.Lys545Arg) c.2183A>G (p.Lys728Arg) c.2162A>G (p.Lys721Arg) | |
1 | g.7752476A>T | CA338145190 | CAMTA1 | c.1655A>T (p.Lys552Ile) c.1994A>T (p.Lys665Ile) c.4562A>T (p.Lys1521Ile) c.2223A>T c.*4434A>T (n.*4434A>T) c.4493A>T (p.Lys1498Ile) c.4490A>T (p.Lys1497Ile) c.2747A>T (p.Lys916Ile) c.1952A>T (p.Lys651Ile) c.1973A>T (p.Lys658Ile) n.1075A>T c.1613A>T (p.Lys538Ile) c.2247A>T n.3297A>T n.2581A>T c.585A>T c.105A>T c.4901A>T (p.Lys1634Ile) c.593A>T (p.Lys198Ile) c.598A>T c.1792A>T c.4922A>T (p.Lys1641Ile) c.4910A>T (p.Lys1637Ile) c.4850A>T (p.Lys1617Ile) c.4832A>T (p.Lys1611Ile) c.4583A>T (p.Lys1528Ile) c.4811A>T (p.Lys1604Ile) c.4577A>T (p.Lys1526Ile) c.2030A>T (p.Lys677Ile) c.1634A>T (p.Lys545Ile) c.2183A>T (p.Lys728Ile) c.2162A>T (p.Lys721Ile) | |
1 | g.7752477A>C | CA338145193 | CAMTA1 | c.1656A>C (p.Lys552Asn) c.1995A>C (p.Lys665Asn) c.4563A>C (p.Lys1521Asn) c.2224A>C c.*4435A>C (n.*4435A>C) c.4494A>C (p.Lys1498Asn) c.4491A>C (p.Lys1497Asn) c.2748A>C (p.Lys916Asn) c.1953A>C (p.Lys651Asn) c.1974A>C (p.Lys658Asn) n.1076A>C c.1614A>C (p.Lys538Asn) c.2248A>C n.3298A>C n.2582A>C c.586A>C c.106A>C c.4902A>C (p.Lys1634Asn) c.594A>C (p.Lys198Asn) c.599A>C c.1793A>C c.4923A>C (p.Lys1641Asn) c.4911A>C (p.Lys1637Asn) c.4851A>C (p.Lys1617Asn) c.4833A>C (p.Lys1611Asn) c.4584A>C (p.Lys1528Asn) c.4812A>C (p.Lys1604Asn) c.4578A>C (p.Lys1526Asn) c.2031A>C (p.Lys677Asn) c.1635A>C (p.Lys545Asn) c.2184A>C (p.Lys728Asn) c.2163A>C (p.Lys721Asn) | |
1 | g.7752477A>G | CA415825991 | CAMTA1 | c.1656A>G (p.Lys552=) c.1995A>G (p.Lys665=) c.4563A>G (p.Lys1521=) c.2224A>G c.*4435A>G (n.*4435A>G) c.4494A>G (p.Lys1498=) c.4491A>G (p.Lys1497=) c.2748A>G (p.Lys916=) c.1953A>G (p.Lys651=) c.1974A>G (p.Lys658=) n.1076A>G c.1614A>G (p.Lys538=) c.2248A>G n.3298A>G n.2582A>G c.586A>G c.106A>G c.4902A>G (p.Lys1634=) c.594A>G (p.Lys198=) c.599A>G c.1793A>G c.4923A>G (p.Lys1641=) c.4911A>G (p.Lys1637=) c.4851A>G (p.Lys1617=) c.4833A>G (p.Lys1611=) c.4584A>G (p.Lys1528=) c.4812A>G (p.Lys1604=) c.4578A>G (p.Lys1526=) c.2031A>G (p.Lys677=) c.1635A>G (p.Lys545=) c.2184A>G (p.Lys728=) c.2163A>G (p.Lys721=) | |
1 | g.7752477A>T | CA338145196 | CAMTA1 | c.1656A>T (p.Lys552Asn) c.1995A>T (p.Lys665Asn) c.4563A>T (p.Lys1521Asn) c.2224A>T c.*4435A>T (n.*4435A>T) c.4494A>T (p.Lys1498Asn) c.4491A>T (p.Lys1497Asn) c.2748A>T (p.Lys916Asn) c.1953A>T (p.Lys651Asn) c.1974A>T (p.Lys658Asn) n.1076A>T c.1614A>T (p.Lys538Asn) c.2248A>T n.3298A>T n.2582A>T c.586A>T c.106A>T c.4902A>T (p.Lys1634Asn) c.594A>T (p.Lys198Asn) c.599A>T c.1793A>T c.4923A>T (p.Lys1641Asn) c.4911A>T (p.Lys1637Asn) c.4851A>T (p.Lys1617Asn) c.4833A>T (p.Lys1611Asn) c.4584A>T (p.Lys1528Asn) c.4812A>T (p.Lys1604Asn) c.4578A>T (p.Lys1526Asn) c.2031A>T (p.Lys677Asn) c.1635A>T (p.Lys545Asn) c.2184A>T (p.Lys728Asn) c.2163A>T (p.Lys721Asn) | |
1 | g.7752478A>C | CA338145200 | CAMTA1 | c.1657A>C (p.Lys553Gln) c.1996A>C (p.Lys666Gln) c.4564A>C (p.Lys1522Gln) c.2225A>C c.*4436A>C (n.*4436A>C) c.4495A>C (p.Lys1499Gln) c.4492A>C (p.Lys1498Gln) c.2749A>C (p.Lys917Gln) c.1954A>C (p.Lys652Gln) c.1975A>C (p.Lys659Gln) n.1077A>C c.1615A>C (p.Lys539Gln) c.2249A>C n.3299A>C n.2583A>C c.587A>C c.107A>C c.4903A>C (p.Lys1635Gln) c.595A>C (p.Lys199Gln) c.600A>C c.1794A>C c.4924A>C (p.Lys1642Gln) c.4912A>C (p.Lys1638Gln) c.4852A>C (p.Lys1618Gln) c.4834A>C (p.Lys1612Gln) c.4585A>C (p.Lys1529Gln) c.4813A>C (p.Lys1605Gln) c.4579A>C (p.Lys1527Gln) c.2032A>C (p.Lys678Gln) c.1636A>C (p.Lys546Gln) c.2185A>C (p.Lys729Gln) c.2164A>C (p.Lys722Gln) | |
1 | g.7752478A>G | CA338145202 | CAMTA1 | c.1657A>G (p.Lys553Glu) c.1996A>G (p.Lys666Glu) c.4564A>G (p.Lys1522Glu) c.2225A>G c.*4436A>G (n.*4436A>G) c.4495A>G (p.Lys1499Glu) c.4492A>G (p.Lys1498Glu) c.2749A>G (p.Lys917Glu) c.1954A>G (p.Lys652Glu) c.1975A>G (p.Lys659Glu) n.1077A>G c.1615A>G (p.Lys539Glu) c.2249A>G n.3299A>G n.2583A>G c.587A>G c.107A>G c.4903A>G (p.Lys1635Glu) c.595A>G (p.Lys199Glu) c.600A>G c.1794A>G c.4924A>G (p.Lys1642Glu) c.4912A>G (p.Lys1638Glu) c.4852A>G (p.Lys1618Glu) c.4834A>G (p.Lys1612Glu) c.4585A>G (p.Lys1529Glu) c.4813A>G (p.Lys1605Glu) c.4579A>G (p.Lys1527Glu) c.2032A>G (p.Lys678Glu) c.1636A>G (p.Lys546Glu) c.2185A>G (p.Lys729Glu) c.2164A>G (p.Lys722Glu) | gnomAD v4 |
1 | g.7752478A>T | CA338145204 | CAMTA1 | c.1657A>T (p.Lys553Ter) c.1996A>T (p.Lys666Ter) c.4564A>T (p.Lys1522Ter) c.2225A>T c.*4436A>T (n.*4436A>T) c.4495A>T (p.Lys1499Ter) c.4492A>T (p.Lys1498Ter) c.2749A>T (p.Lys917Ter) c.1954A>T (p.Lys652Ter) c.1975A>T (p.Lys659Ter) n.1077A>T c.1615A>T (p.Lys539Ter) c.2249A>T n.3299A>T n.2583A>T c.587A>T c.107A>T c.4903A>T (p.Lys1635Ter) c.595A>T (p.Lys199Ter) c.600A>T c.1794A>T c.4924A>T (p.Lys1642Ter) c.4912A>T (p.Lys1638Ter) c.4852A>T (p.Lys1618Ter) c.4834A>T (p.Lys1612Ter) c.4585A>T (p.Lys1529Ter) c.4813A>T (p.Lys1605Ter) c.4579A>T (p.Lys1527Ter) c.2032A>T (p.Lys678Ter) c.1636A>T (p.Lys546Ter) c.2185A>T (p.Lys729Ter) c.2164A>T (p.Lys722Ter) | |
1 | g.7752479A= | CA1148895316 | CAMTA1 | c.1658A= (p.Lys553=) c.1997A= (p.Lys666=) c.4565A= (p.Lys1522=) c.2226A= c.*4437A= (n.*4437A=) c.4496A= (p.Lys1499=) c.4493A= (p.Lys1498=) c.2750A= (p.Lys917=) c.1955A= (p.Lys652=) c.1976A= (p.Lys659=) n.1078A= c.1616A= (p.Lys539=) c.2250A= n.3300A= n.2584A= c.588A= c.108A= c.4904A= (p.Lys1635=) c.596A= (p.Lys199=) c.601A= c.1795A= c.4925A= (p.Lys1642=) c.4913A= (p.Lys1638=) c.4853A= (p.Lys1618=) c.4835A= (p.Lys1612=) c.4586A= (p.Lys1529=) c.4814A= (p.Lys1605=) c.4580A= (p.Lys1527=) c.2033A= (p.Lys678=) c.1637A= (p.Lys546=) c.2186A= (p.Lys729=) c.2165A= (p.Lys722=) | |
1 | g.7752479A>C | CA338145207 | CAMTA1 | c.1658A>C (p.Lys553Thr) c.1997A>C (p.Lys666Thr) c.4565A>C (p.Lys1522Thr) c.2226A>C c.*4437A>C (n.*4437A>C) c.4496A>C (p.Lys1499Thr) c.4493A>C (p.Lys1498Thr) c.2750A>C (p.Lys917Thr) c.1955A>C (p.Lys652Thr) c.1976A>C (p.Lys659Thr) n.1078A>C c.1616A>C (p.Lys539Thr) c.2250A>C n.3300A>C n.2584A>C c.588A>C c.108A>C c.4904A>C (p.Lys1635Thr) c.596A>C (p.Lys199Thr) c.601A>C c.1795A>C c.4925A>C (p.Lys1642Thr) c.4913A>C (p.Lys1638Thr) c.4853A>C (p.Lys1618Thr) c.4835A>C (p.Lys1612Thr) c.4586A>C (p.Lys1529Thr) c.4814A>C (p.Lys1605Thr) c.4580A>C (p.Lys1527Thr) c.2033A>C (p.Lys678Thr) c.1637A>C (p.Lys546Thr) c.2186A>C (p.Lys729Thr) c.2165A>C (p.Lys722Thr) | |
1 | g.7752479A>G | CA567282 | CAMTA1 | c.1658A>G (p.Lys553Arg) c.1997A>G (p.Lys666Arg) c.4565A>G (p.Lys1522Arg) c.2226A>G c.*4437A>G (n.*4437A>G) c.4496A>G (p.Lys1499Arg) c.4493A>G (p.Lys1498Arg) c.2750A>G (p.Lys917Arg) c.1955A>G (p.Lys652Arg) c.1976A>G (p.Lys659Arg) n.1078A>G c.1616A>G (p.Lys539Arg) c.2250A>G n.3300A>G n.2584A>G c.588A>G c.108A>G c.4904A>G (p.Lys1635Arg) c.596A>G (p.Lys199Arg) c.601A>G c.1795A>G c.4925A>G (p.Lys1642Arg) c.4913A>G (p.Lys1638Arg) c.4853A>G (p.Lys1618Arg) c.4835A>G (p.Lys1612Arg) c.4586A>G (p.Lys1529Arg) c.4814A>G (p.Lys1605Arg) c.4580A>G (p.Lys1527Arg) c.2033A>G (p.Lys678Arg) c.1637A>G (p.Lys546Arg) c.2186A>G (p.Lys729Arg) c.2165A>G (p.Lys722Arg) | dbSNP ExAC |
1 | g.7752479A>T | CA338145212 | CAMTA1 | c.1658A>T (p.Lys553Met) c.1997A>T (p.Lys666Met) c.4565A>T (p.Lys1522Met) c.2226A>T c.*4437A>T (n.*4437A>T) c.4496A>T (p.Lys1499Met) c.4493A>T (p.Lys1498Met) c.2750A>T (p.Lys917Met) c.1955A>T (p.Lys652Met) c.1976A>T (p.Lys659Met) n.1078A>T c.1616A>T (p.Lys539Met) c.2250A>T n.3300A>T n.2584A>T c.588A>T c.108A>T c.4904A>T (p.Lys1635Met) c.596A>T (p.Lys199Met) c.601A>T c.1795A>T c.4925A>T (p.Lys1642Met) c.4913A>T (p.Lys1638Met) c.4853A>T (p.Lys1618Met) c.4835A>T (p.Lys1612Met) c.4586A>T (p.Lys1529Met) c.4814A>T (p.Lys1605Met) c.4580A>T (p.Lys1527Met) c.2033A>T (p.Lys678Met) c.1637A>T (p.Lys546Met) c.2186A>T (p.Lys729Met) c.2165A>T (p.Lys722Met) | |
1 | g.7752480G>A | CA567283 | CAMTA1 | c.1659G>A (p.Lys553=) c.1998G>A (p.Lys666=) c.4566G>A (p.Lys1522=) c.2227G>A c.*4438G>A (n.*4438G>A) c.4497G>A (p.Lys1499=) c.4494G>A (p.Lys1498=) c.2751G>A (p.Lys917=) c.1956G>A (p.Lys652=) c.1977G>A (p.Lys659=) n.1079G>A c.1617G>A (p.Lys539=) c.2251G>A n.3301G>A n.2585G>A c.589G>A c.109G>A c.4905G>A (p.Lys1635=) c.597G>A (p.Lys199=) c.602G>A c.1796G>A c.4926G>A (p.Lys1642=) c.4914G>A (p.Lys1638=) c.4854G>A (p.Lys1618=) c.4836G>A (p.Lys1612=) c.4587G>A (p.Lys1529=) c.4815G>A (p.Lys1605=) c.4581G>A (p.Lys1527=) c.2034G>A (p.Lys678=) c.1638G>A (p.Lys546=) c.2187G>A (p.Lys729=) c.2166G>A (p.Lys722=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7752480G>C | CA338145220 | CAMTA1 | c.1659G>C (p.Lys553Asn) c.1998G>C (p.Lys666Asn) c.4566G>C (p.Lys1522Asn) c.2227G>C c.*4438G>C (n.*4438G>C) c.4497G>C (p.Lys1499Asn) c.4494G>C (p.Lys1498Asn) c.2751G>C (p.Lys917Asn) c.1956G>C (p.Lys652Asn) c.1977G>C (p.Lys659Asn) n.1079G>C c.1617G>C (p.Lys539Asn) c.2251G>C n.3301G>C n.2585G>C c.589G>C c.109G>C c.4905G>C (p.Lys1635Asn) c.597G>C (p.Lys199Asn) c.602G>C c.1796G>C c.4926G>C (p.Lys1642Asn) c.4914G>C (p.Lys1638Asn) c.4854G>C (p.Lys1618Asn) c.4836G>C (p.Lys1612Asn) c.4587G>C (p.Lys1529Asn) c.4815G>C (p.Lys1605Asn) c.4581G>C (p.Lys1527Asn) c.2034G>C (p.Lys678Asn) c.1638G>C (p.Lys546Asn) c.2187G>C (p.Lys729Asn) c.2166G>C (p.Lys722Asn) | |
1 | g.7752480G= | CA1152049606 | CAMTA1 | c.1659G= (p.Lys553=) c.1998G= (p.Lys666=) c.4566G= (p.Lys1522=) c.2227G= c.*4438G= (n.*4438G=) c.4497G= (p.Lys1499=) c.4494G= (p.Lys1498=) c.2751G= (p.Lys917=) c.1956G= (p.Lys652=) c.1977G= (p.Lys659=) n.1079G= c.1617G= (p.Lys539=) c.2251G= n.3301G= n.2585G= c.589G= c.109G= c.4905G= (p.Lys1635=) c.597G= (p.Lys199=) c.602G= c.1796G= c.4926G= (p.Lys1642=) c.4914G= (p.Lys1638=) c.4854G= (p.Lys1618=) c.4836G= (p.Lys1612=) c.4587G= (p.Lys1529=) c.4815G= (p.Lys1605=) c.4581G= (p.Lys1527=) c.2034G= (p.Lys678=) c.1638G= (p.Lys546=) c.2187G= (p.Lys729=) c.2166G= (p.Lys722=) | |
1 | g.7752480G>T | CA338145215 | CAMTA1 | c.1659G>T (p.Lys553Asn) c.1998G>T (p.Lys666Asn) c.4566G>T (p.Lys1522Asn) c.2227G>T c.*4438G>T (n.*4438G>T) c.4497G>T (p.Lys1499Asn) c.4494G>T (p.Lys1498Asn) c.2751G>T (p.Lys917Asn) c.1956G>T (p.Lys652Asn) c.1977G>T (p.Lys659Asn) n.1079G>T c.1617G>T (p.Lys539Asn) c.2251G>T n.3301G>T n.2585G>T c.589G>T c.109G>T c.4905G>T (p.Lys1635Asn) c.597G>T (p.Lys199Asn) c.602G>T c.1796G>T c.4926G>T (p.Lys1642Asn) c.4914G>T (p.Lys1638Asn) c.4854G>T (p.Lys1618Asn) c.4836G>T (p.Lys1612Asn) c.4587G>T (p.Lys1529Asn) c.4815G>T (p.Lys1605Asn) c.4581G>T (p.Lys1527Asn) c.2034G>T (p.Lys678Asn) c.1638G>T (p.Lys546Asn) c.2187G>T (p.Lys729Asn) c.2166G>T (p.Lys722Asn) | |
1 | g.7752481C>A | CA338145228 | CAMTA1 | c.1660C>A (p.Gln554Lys) c.1999C>A (p.Gln667Lys) c.4567C>A (p.Gln1523Lys) c.2228C>A c.*4439C>A (n.*4439C>A) c.4498C>A (p.Gln1500Lys) c.4495C>A (p.Gln1499Lys) c.2752C>A (p.Gln918Lys) c.1957C>A (p.Gln653Lys) c.1978C>A (p.Gln660Lys) n.1080C>A c.1618C>A (p.Gln540Lys) c.2252C>A n.3302C>A n.2586C>A c.590C>A c.110C>A c.4906C>A (p.Gln1636Lys) c.598C>A (p.Gln200Lys) c.603C>A c.1797C>A c.4927C>A (p.Gln1643Lys) c.4915C>A (p.Gln1639Lys) c.4855C>A (p.Gln1619Lys) c.4837C>A (p.Gln1613Lys) c.4588C>A (p.Gln1530Lys) c.4816C>A (p.Gln1606Lys) c.4582C>A (p.Gln1528Lys) c.2035C>A (p.Gln679Lys) c.1639C>A (p.Gln547Lys) c.2188C>A (p.Gln730Lys) c.2167C>A (p.Gln723Lys) | |
1 | g.7752481C>G | CA338145222 | CAMTA1 | c.1660C>G (p.Gln554Glu) c.1999C>G (p.Gln667Glu) c.4567C>G (p.Gln1523Glu) c.2228C>G c.*4439C>G (n.*4439C>G) c.4498C>G (p.Gln1500Glu) c.4495C>G (p.Gln1499Glu) c.2752C>G (p.Gln918Glu) c.1957C>G (p.Gln653Glu) c.1978C>G (p.Gln660Glu) n.1080C>G c.1618C>G (p.Gln540Glu) c.2252C>G n.3302C>G n.2586C>G c.590C>G c.110C>G c.4906C>G (p.Gln1636Glu) c.598C>G (p.Gln200Glu) c.603C>G c.1797C>G c.4927C>G (p.Gln1643Glu) c.4915C>G (p.Gln1639Glu) c.4855C>G (p.Gln1619Glu) c.4837C>G (p.Gln1613Glu) c.4588C>G (p.Gln1530Glu) c.4816C>G (p.Gln1606Glu) c.4582C>G (p.Gln1528Glu) c.2035C>G (p.Gln679Glu) c.1639C>G (p.Gln547Glu) c.2188C>G (p.Gln730Glu) c.2167C>G (p.Gln723Glu) | |
1 | g.7752481C>T | CA338145226 | CAMTA1 | c.1660C>T (p.Gln554Ter) c.1999C>T (p.Gln667Ter) c.4567C>T (p.Gln1523Ter) c.2228C>T c.*4439C>T (n.*4439C>T) c.4498C>T (p.Gln1500Ter) c.4495C>T (p.Gln1499Ter) c.2752C>T (p.Gln918Ter) c.1957C>T (p.Gln653Ter) c.1978C>T (p.Gln660Ter) n.1080C>T c.1618C>T (p.Gln540Ter) c.2252C>T n.3302C>T n.2586C>T c.590C>T c.110C>T c.4906C>T (p.Gln1636Ter) c.598C>T (p.Gln200Ter) c.603C>T c.1797C>T c.4927C>T (p.Gln1643Ter) c.4915C>T (p.Gln1639Ter) c.4855C>T (p.Gln1619Ter) c.4837C>T (p.Gln1613Ter) c.4588C>T (p.Gln1530Ter) c.4816C>T (p.Gln1606Ter) c.4582C>T (p.Gln1528Ter) c.2035C>T (p.Gln679Ter) c.1639C>T (p.Gln547Ter) c.2188C>T (p.Gln730Ter) c.2167C>T (p.Gln723Ter) | COSMIC |
1 | g.7752482A>C | CA338145233 | CAMTA1 | c.1661A>C (p.Gln554Pro) c.2000A>C (p.Gln667Pro) c.4568A>C (p.Gln1523Pro) c.2229A>C c.*4440A>C (n.*4440A>C) c.4499A>C (p.Gln1500Pro) c.4496A>C (p.Gln1499Pro) c.2753A>C (p.Gln918Pro) c.1958A>C (p.Gln653Pro) c.1979A>C (p.Gln660Pro) n.1081A>C c.1619A>C (p.Gln540Pro) c.2253A>C n.3303A>C n.2587A>C c.591A>C c.111A>C c.4907A>C (p.Gln1636Pro) c.599A>C (p.Gln200Pro) c.604A>C c.1798A>C c.4928A>C (p.Gln1643Pro) c.4916A>C (p.Gln1639Pro) c.4856A>C (p.Gln1619Pro) c.4838A>C (p.Gln1613Pro) c.4589A>C (p.Gln1530Pro) c.4817A>C (p.Gln1606Pro) c.4583A>C (p.Gln1528Pro) c.2036A>C (p.Gln679Pro) c.1640A>C (p.Gln547Pro) c.2189A>C (p.Gln730Pro) c.2168A>C (p.Gln723Pro) | |
1 | g.7752482A>G | CA338145235 | CAMTA1 | c.1661A>G (p.Gln554Arg) c.2000A>G (p.Gln667Arg) c.4568A>G (p.Gln1523Arg) c.2229A>G c.*4440A>G (n.*4440A>G) c.4499A>G (p.Gln1500Arg) c.4496A>G (p.Gln1499Arg) c.2753A>G (p.Gln918Arg) c.1958A>G (p.Gln653Arg) c.1979A>G (p.Gln660Arg) n.1081A>G c.1619A>G (p.Gln540Arg) c.2253A>G n.3303A>G n.2587A>G c.591A>G c.111A>G c.4907A>G (p.Gln1636Arg) c.599A>G (p.Gln200Arg) c.604A>G c.1798A>G c.4928A>G (p.Gln1643Arg) c.4916A>G (p.Gln1639Arg) c.4856A>G (p.Gln1619Arg) c.4838A>G (p.Gln1613Arg) c.4589A>G (p.Gln1530Arg) c.4817A>G (p.Gln1606Arg) c.4583A>G (p.Gln1528Arg) c.2036A>G (p.Gln679Arg) c.1640A>G (p.Gln547Arg) c.2189A>G (p.Gln730Arg) c.2168A>G (p.Gln723Arg) | gnomAD v4 |
1 | g.7752482A>T | CA338145240 | CAMTA1 | c.1661A>T (p.Gln554Leu) c.2000A>T (p.Gln667Leu) c.4568A>T (p.Gln1523Leu) c.2229A>T c.*4440A>T (n.*4440A>T) c.4499A>T (p.Gln1500Leu) c.4496A>T (p.Gln1499Leu) c.2753A>T (p.Gln918Leu) c.1958A>T (p.Gln653Leu) c.1979A>T (p.Gln660Leu) n.1081A>T c.1619A>T (p.Gln540Leu) c.2253A>T n.3303A>T n.2587A>T c.591A>T c.111A>T c.4907A>T (p.Gln1636Leu) c.599A>T (p.Gln200Leu) c.604A>T c.1798A>T c.4928A>T (p.Gln1643Leu) c.4916A>T (p.Gln1639Leu) c.4856A>T (p.Gln1619Leu) c.4838A>T (p.Gln1613Leu) c.4589A>T (p.Gln1530Leu) c.4817A>T (p.Gln1606Leu) c.4583A>T (p.Gln1528Leu) c.2036A>T (p.Gln679Leu) c.1640A>T (p.Gln547Leu) c.2189A>T (p.Gln730Leu) c.2168A>T (p.Gln723Leu) | |
1 | g.7752483G>A | CA415825996 | CAMTA1 | c.1662G>A (p.Gln554=) c.2001G>A (p.Gln667=) c.4569G>A (p.Gln1523=) c.2230G>A c.*4441G>A (n.*4441G>A) c.4500G>A (p.Gln1500=) c.4497G>A (p.Gln1499=) c.2754G>A (p.Gln918=) c.1959G>A (p.Gln653=) c.1980G>A (p.Gln660=) n.1082G>A c.1620G>A (p.Gln540=) c.2254G>A n.3304G>A n.2588G>A c.592G>A c.112G>A c.4908G>A (p.Gln1636=) c.600G>A (p.Gln200=) c.605G>A c.1799G>A c.4929G>A (p.Gln1643=) c.4917G>A (p.Gln1639=) c.4857G>A (p.Gln1619=) c.4839G>A (p.Gln1613=) c.4590G>A (p.Gln1530=) c.4818G>A (p.Gln1606=) c.4584G>A (p.Gln1528=) c.2037G>A (p.Gln679=) c.1641G>A (p.Gln547=) c.2190G>A (p.Gln730=) c.2169G>A (p.Gln723=) | |
1 | g.7752483G>C | CA338145244 | CAMTA1 | c.1662G>C (p.Gln554His) c.2001G>C (p.Gln667His) c.4569G>C (p.Gln1523His) c.2230G>C c.*4441G>C (n.*4441G>C) c.4500G>C (p.Gln1500His) c.4497G>C (p.Gln1499His) c.2754G>C (p.Gln918His) c.1959G>C (p.Gln653His) c.1980G>C (p.Gln660His) n.1082G>C c.1620G>C (p.Gln540His) c.2254G>C n.3304G>C n.2588G>C c.592G>C c.112G>C c.4908G>C (p.Gln1636His) c.600G>C (p.Gln200His) c.605G>C c.1799G>C c.4929G>C (p.Gln1643His) c.4917G>C (p.Gln1639His) c.4857G>C (p.Gln1619His) c.4839G>C (p.Gln1613His) c.4590G>C (p.Gln1530His) c.4818G>C (p.Gln1606His) c.4584G>C (p.Gln1528His) c.2037G>C (p.Gln679His) c.1641G>C (p.Gln547His) c.2190G>C (p.Gln730His) c.2169G>C (p.Gln723His) | gnomAD v4 |
1 | g.7752483G>T | CA338145247 | CAMTA1 | c.1662G>T (p.Gln554His) c.2001G>T (p.Gln667His) c.4569G>T (p.Gln1523His) c.2230G>T c.*4441G>T (n.*4441G>T) c.4500G>T (p.Gln1500His) c.4497G>T (p.Gln1499His) c.2754G>T (p.Gln918His) c.1959G>T (p.Gln653His) c.1980G>T (p.Gln660His) n.1082G>T c.1620G>T (p.Gln540His) c.2254G>T n.3304G>T n.2588G>T c.592G>T c.112G>T c.4908G>T (p.Gln1636His) c.600G>T (p.Gln200His) c.605G>T c.1799G>T c.4929G>T (p.Gln1643His) c.4917G>T (p.Gln1639His) c.4857G>T (p.Gln1619His) c.4839G>T (p.Gln1613His) c.4590G>T (p.Gln1530His) c.4818G>T (p.Gln1606His) c.4584G>T (p.Gln1528His) c.2037G>T (p.Gln679His) c.1641G>T (p.Gln547His) c.2190G>T (p.Gln730His) c.2169G>T (p.Gln723His) | |
1 | g.7752484G>A | CA338145258 | CAMTA1 | c.1663G>A (p.Asp555Asn) c.2002G>A (p.Asp668Asn) c.4570G>A (p.Asp1524Asn) c.2231G>A c.*4442G>A (n.*4442G>A) c.4501G>A (p.Asp1501Asn) c.4498G>A (p.Asp1500Asn) c.2755G>A (p.Asp919Asn) c.1960G>A (p.Asp654Asn) c.1981G>A (p.Asp661Asn) n.1083G>A c.1621G>A (p.Asp541Asn) c.2255G>A n.3305G>A n.2589G>A c.593G>A c.113G>A c.4909G>A (p.Asp1637Asn) c.601G>A (p.Asp201Asn) c.606G>A c.1800G>A c.4930G>A (p.Asp1644Asn) c.4918G>A (p.Asp1640Asn) c.4858G>A (p.Asp1620Asn) c.4840G>A (p.Asp1614Asn) c.4591G>A (p.Asp1531Asn) c.4819G>A (p.Asp1607Asn) c.4585G>A (p.Asp1529Asn) c.2038G>A (p.Asp680Asn) c.1642G>A (p.Asp548Asn) c.2191G>A (p.Asp731Asn) c.2170G>A (p.Asp724Asn) | |
1 | g.7752484G>C | CA338145250 | CAMTA1 | c.1663G>C (p.Asp555His) c.2002G>C (p.Asp668His) c.4570G>C (p.Asp1524His) c.2231G>C c.*4442G>C (n.*4442G>C) c.4501G>C (p.Asp1501His) c.4498G>C (p.Asp1500His) c.2755G>C (p.Asp919His) c.1960G>C (p.Asp654His) c.1981G>C (p.Asp661His) n.1083G>C c.1621G>C (p.Asp541His) c.2255G>C n.3305G>C n.2589G>C c.593G>C c.113G>C c.4909G>C (p.Asp1637His) c.601G>C (p.Asp201His) c.606G>C c.1800G>C c.4930G>C (p.Asp1644His) c.4918G>C (p.Asp1640His) c.4858G>C (p.Asp1620His) c.4840G>C (p.Asp1614His) c.4591G>C (p.Asp1531His) c.4819G>C (p.Asp1607His) c.4585G>C (p.Asp1529His) c.2038G>C (p.Asp680His) c.1642G>C (p.Asp548His) c.2191G>C (p.Asp731His) c.2170G>C (p.Asp724His) | COSMIC |
1 | g.7752484G>T | CA338145254 | CAMTA1 | c.1663G>T (p.Asp555Tyr) c.2002G>T (p.Asp668Tyr) c.4570G>T (p.Asp1524Tyr) c.2231G>T c.*4442G>T (n.*4442G>T) c.4501G>T (p.Asp1501Tyr) c.4498G>T (p.Asp1500Tyr) c.2755G>T (p.Asp919Tyr) c.1960G>T (p.Asp654Tyr) c.1981G>T (p.Asp661Tyr) n.1083G>T c.1621G>T (p.Asp541Tyr) c.2255G>T n.3305G>T n.2589G>T c.593G>T c.113G>T c.4909G>T (p.Asp1637Tyr) c.601G>T (p.Asp201Tyr) c.606G>T c.1800G>T c.4930G>T (p.Asp1644Tyr) c.4918G>T (p.Asp1640Tyr) c.4858G>T (p.Asp1620Tyr) c.4840G>T (p.Asp1614Tyr) c.4591G>T (p.Asp1531Tyr) c.4819G>T (p.Asp1607Tyr) c.4585G>T (p.Asp1529Tyr) c.2038G>T (p.Asp680Tyr) c.1642G>T (p.Asp548Tyr) c.2191G>T (p.Asp731Tyr) c.2170G>T (p.Asp724Tyr) | |
1 | g.7752485A>C | CA338145262 | CAMTA1 | c.1664A>C (p.Asp555Ala) c.2003A>C (p.Asp668Ala) c.4571A>C (p.Asp1524Ala) c.2232A>C c.*4443A>C (n.*4443A>C) c.4502A>C (p.Asp1501Ala) c.4499A>C (p.Asp1500Ala) c.2756A>C (p.Asp919Ala) c.1961A>C (p.Asp654Ala) c.1982A>C (p.Asp661Ala) n.1084A>C c.1622A>C (p.Asp541Ala) c.2256A>C n.3306A>C n.2590A>C c.594A>C c.114A>C c.4910A>C (p.Asp1637Ala) c.602A>C (p.Asp201Ala) c.607A>C c.1801A>C c.4931A>C (p.Asp1644Ala) c.4919A>C (p.Asp1640Ala) c.4859A>C (p.Asp1620Ala) c.4841A>C (p.Asp1614Ala) c.4592A>C (p.Asp1531Ala) c.4820A>C (p.Asp1607Ala) c.4586A>C (p.Asp1529Ala) c.2039A>C (p.Asp680Ala) c.1643A>C (p.Asp548Ala) c.2192A>C (p.Asp731Ala) c.2171A>C (p.Asp724Ala) | |
1 | g.7752485A>G | CA338145266 | CAMTA1 | c.1664A>G (p.Asp555Gly) c.2003A>G (p.Asp668Gly) c.4571A>G (p.Asp1524Gly) c.2232A>G c.*4443A>G (n.*4443A>G) c.4502A>G (p.Asp1501Gly) c.4499A>G (p.Asp1500Gly) c.2756A>G (p.Asp919Gly) c.1961A>G (p.Asp654Gly) c.1982A>G (p.Asp661Gly) n.1084A>G c.1622A>G (p.Asp541Gly) c.2256A>G n.3306A>G n.2590A>G c.594A>G c.114A>G c.4910A>G (p.Asp1637Gly) c.602A>G (p.Asp201Gly) c.607A>G c.1801A>G c.4931A>G (p.Asp1644Gly) c.4919A>G (p.Asp1640Gly) c.4859A>G (p.Asp1620Gly) c.4841A>G (p.Asp1614Gly) c.4592A>G (p.Asp1531Gly) c.4820A>G (p.Asp1607Gly) c.4586A>G (p.Asp1529Gly) c.2039A>G (p.Asp680Gly) c.1643A>G (p.Asp548Gly) c.2192A>G (p.Asp731Gly) c.2171A>G (p.Asp724Gly) | |
1 | g.7752485A>T | CA338145269 | CAMTA1 | c.1664A>T (p.Asp555Val) c.2003A>T (p.Asp668Val) c.4571A>T (p.Asp1524Val) c.2232A>T c.*4443A>T (n.*4443A>T) c.4502A>T (p.Asp1501Val) c.4499A>T (p.Asp1500Val) c.2756A>T (p.Asp919Val) c.1961A>T (p.Asp654Val) c.1982A>T (p.Asp661Val) n.1084A>T c.1622A>T (p.Asp541Val) c.2256A>T n.3306A>T n.2590A>T c.594A>T c.114A>T c.4910A>T (p.Asp1637Val) c.602A>T (p.Asp201Val) c.607A>T c.1801A>T c.4931A>T (p.Asp1644Val) c.4919A>T (p.Asp1640Val) c.4859A>T (p.Asp1620Val) c.4841A>T (p.Asp1614Val) c.4592A>T (p.Asp1531Val) c.4820A>T (p.Asp1607Val) c.4586A>T (p.Asp1529Val) c.2039A>T (p.Asp680Val) c.1643A>T (p.Asp548Val) c.2192A>T (p.Asp731Val) c.2171A>T (p.Asp724Val) | |
1 | g.7752486T>A | CA338145273 | CAMTA1 | c.1665T>A (p.Asp555Glu) c.2004T>A (p.Asp668Glu) c.4572T>A (p.Asp1524Glu) c.2233T>A c.*4444T>A (n.*4444T>A) c.4503T>A (p.Asp1501Glu) c.4500T>A (p.Asp1500Glu) c.2757T>A (p.Asp919Glu) c.1962T>A (p.Asp654Glu) c.1983T>A (p.Asp661Glu) n.1085T>A c.1623T>A (p.Asp541Glu) c.2257T>A n.3307T>A n.2591T>A c.595T>A c.115T>A c.4911T>A (p.Asp1637Glu) c.603T>A (p.Asp201Glu) c.608T>A c.1802T>A c.4932T>A (p.Asp1644Glu) c.4920T>A (p.Asp1640Glu) c.4860T>A (p.Asp1620Glu) c.4842T>A (p.Asp1614Glu) c.4593T>A (p.Asp1531Glu) c.4821T>A (p.Asp1607Glu) c.4587T>A (p.Asp1529Glu) c.2040T>A (p.Asp680Glu) c.1644T>A (p.Asp548Glu) c.2193T>A (p.Asp731Glu) c.2172T>A (p.Asp724Glu) | |
1 | g.7752486T>C | CA415825999 | CAMTA1 | c.1665T>C (p.Asp555=) c.2004T>C (p.Asp668=) c.4572T>C (p.Asp1524=) c.2233T>C c.*4444T>C (n.*4444T>C) c.4503T>C (p.Asp1501=) c.4500T>C (p.Asp1500=) c.2757T>C (p.Asp919=) c.1962T>C (p.Asp654=) c.1983T>C (p.Asp661=) n.1085T>C c.1623T>C (p.Asp541=) c.2257T>C n.3307T>C n.2591T>C c.595T>C c.115T>C c.4911T>C (p.Asp1637=) c.603T>C (p.Asp201=) c.608T>C c.1802T>C c.4932T>C (p.Asp1644=) c.4920T>C (p.Asp1640=) c.4860T>C (p.Asp1620=) c.4842T>C (p.Asp1614=) c.4593T>C (p.Asp1531=) c.4821T>C (p.Asp1607=) c.4587T>C (p.Asp1529=) c.2040T>C (p.Asp680=) c.1644T>C (p.Asp548=) c.2193T>C (p.Asp731=) c.2172T>C (p.Asp724=) | |
1 | g.7752486T>G | CA338145276 | CAMTA1 | c.1665T>G (p.Asp555Glu) c.2004T>G (p.Asp668Glu) c.4572T>G (p.Asp1524Glu) c.2233T>G c.*4444T>G (n.*4444T>G) c.4503T>G (p.Asp1501Glu) c.4500T>G (p.Asp1500Glu) c.2757T>G (p.Asp919Glu) c.1962T>G (p.Asp654Glu) c.1983T>G (p.Asp661Glu) n.1085T>G c.1623T>G (p.Asp541Glu) c.2257T>G n.3307T>G n.2591T>G c.595T>G c.115T>G c.4911T>G (p.Asp1637Glu) c.603T>G (p.Asp201Glu) c.608T>G c.1802T>G c.4932T>G (p.Asp1644Glu) c.4920T>G (p.Asp1640Glu) c.4860T>G (p.Asp1620Glu) c.4842T>G (p.Asp1614Glu) c.4593T>G (p.Asp1531Glu) c.4821T>G (p.Asp1607Glu) c.4587T>G (p.Asp1529Glu) c.2040T>G (p.Asp680Glu) c.1644T>G (p.Asp548Glu) c.2193T>G (p.Asp731Glu) c.2172T>G (p.Asp724Glu) | |
1 | g.7752487C>A | CA338145283 | CAMTA1 | c.1666C>A (p.Gln556Lys) c.2005C>A (p.Gln669Lys) c.4573C>A (p.Gln1525Lys) c.2234C>A c.*4445C>A (n.*4445C>A) c.4504C>A (p.Gln1502Lys) c.4501C>A (p.Gln1501Lys) c.2758C>A (p.Gln920Lys) c.1963C>A (p.Gln655Lys) c.1984C>A (p.Gln662Lys) n.1086C>A c.1624C>A (p.Gln542Lys) c.2258C>A n.3308C>A n.2592C>A c.596C>A c.116C>A c.4912C>A (p.Gln1638Lys) c.604C>A (p.Gln202Lys) c.609C>A c.1803C>A c.4933C>A (p.Gln1645Lys) c.4921C>A (p.Gln1641Lys) c.4861C>A (p.Gln1621Lys) c.4843C>A (p.Gln1615Lys) c.4594C>A (p.Gln1532Lys) c.4822C>A (p.Gln1608Lys) c.4588C>A (p.Gln1530Lys) c.2041C>A (p.Gln681Lys) c.1645C>A (p.Gln549Lys) c.2194C>A (p.Gln732Lys) c.2173C>A (p.Gln725Lys) | |
1 | g.7752487C= | CA1152049610 | CAMTA1 | c.1666C= (p.Gln556=) c.2005C= (p.Gln669=) c.4573C= (p.Gln1525=) c.2234C= c.*4445C= (n.*4445C=) c.4504C= (p.Gln1502=) c.4501C= (p.Gln1501=) c.2758C= (p.Gln920=) c.1963C= (p.Gln655=) c.1984C= (p.Gln662=) n.1086C= c.1624C= (p.Gln542=) c.2258C= n.3308C= n.2592C= c.596C= c.116C= c.4912C= (p.Gln1638=) c.604C= (p.Gln202=) c.609C= c.1803C= c.4933C= (p.Gln1645=) c.4921C= (p.Gln1641=) c.4861C= (p.Gln1621=) c.4843C= (p.Gln1615=) c.4594C= (p.Gln1532=) c.4822C= (p.Gln1608=) c.4588C= (p.Gln1530=) c.2041C= (p.Gln681=) c.1645C= (p.Gln549=) c.2194C= (p.Gln732=) c.2173C= (p.Gln725=) | |
1 | g.7752487C>G | CA567284 | CAMTA1 | c.1666C>G (p.Gln556Glu) c.2005C>G (p.Gln669Glu) c.4573C>G (p.Gln1525Glu) c.2234C>G c.*4445C>G (n.*4445C>G) c.4504C>G (p.Gln1502Glu) c.4501C>G (p.Gln1501Glu) c.2758C>G (p.Gln920Glu) c.1963C>G (p.Gln655Glu) c.1984C>G (p.Gln662Glu) n.1086C>G c.1624C>G (p.Gln542Glu) c.2258C>G n.3308C>G n.2592C>G c.596C>G c.116C>G c.4912C>G (p.Gln1638Glu) c.604C>G (p.Gln202Glu) c.609C>G c.1803C>G c.4933C>G (p.Gln1645Glu) c.4921C>G (p.Gln1641Glu) c.4861C>G (p.Gln1621Glu) c.4843C>G (p.Gln1615Glu) c.4594C>G (p.Gln1532Glu) c.4822C>G (p.Gln1608Glu) c.4588C>G (p.Gln1530Glu) c.2041C>G (p.Gln681Glu) c.1645C>G (p.Gln549Glu) c.2194C>G (p.Gln732Glu) c.2173C>G (p.Gln725Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7752487C>T | CA338145288 | CAMTA1 | c.1666C>T (p.Gln556Ter) c.2005C>T (p.Gln669Ter) c.4573C>T (p.Gln1525Ter) c.2234C>T c.*4445C>T (n.*4445C>T) c.4504C>T (p.Gln1502Ter) c.4501C>T (p.Gln1501Ter) c.2758C>T (p.Gln920Ter) c.1963C>T (p.Gln655Ter) c.1984C>T (p.Gln662Ter) n.1086C>T c.1624C>T (p.Gln542Ter) c.2258C>T n.3308C>T n.2592C>T c.596C>T c.116C>T c.4912C>T (p.Gln1638Ter) c.604C>T (p.Gln202Ter) c.609C>T c.1803C>T c.4933C>T (p.Gln1645Ter) c.4921C>T (p.Gln1641Ter) c.4861C>T (p.Gln1621Ter) c.4843C>T (p.Gln1615Ter) c.4594C>T (p.Gln1532Ter) c.4822C>T (p.Gln1608Ter) c.4588C>T (p.Gln1530Ter) c.2041C>T (p.Gln681Ter) c.1645C>T (p.Gln549Ter) c.2194C>T (p.Gln732Ter) c.2173C>T (p.Gln725Ter) | |
1 | g.7752488A>C | CA338145295 | CAMTA1 | c.1667A>C (p.Gln556Pro) c.2006A>C (p.Gln669Pro) c.4574A>C (p.Gln1525Pro) c.2235A>C c.*4446A>C (n.*4446A>C) c.4505A>C (p.Gln1502Pro) c.4502A>C (p.Gln1501Pro) c.2759A>C (p.Gln920Pro) c.1964A>C (p.Gln655Pro) c.1985A>C (p.Gln662Pro) n.1087A>C c.1625A>C (p.Gln542Pro) c.2259A>C n.3309A>C n.2593A>C c.597A>C c.117A>C c.4913A>C (p.Gln1638Pro) c.605A>C (p.Gln202Pro) c.610A>C c.1804A>C c.4934A>C (p.Gln1645Pro) c.4922A>C (p.Gln1641Pro) c.4862A>C (p.Gln1621Pro) c.4844A>C (p.Gln1615Pro) c.4595A>C (p.Gln1532Pro) c.4823A>C (p.Gln1608Pro) c.4589A>C (p.Gln1530Pro) c.2042A>C (p.Gln681Pro) c.1646A>C (p.Gln549Pro) c.2195A>C (p.Gln732Pro) c.2174A>C (p.Gln725Pro) | |
1 | g.7752488A>G | CA338145299 | CAMTA1 | c.1667A>G (p.Gln556Arg) c.2006A>G (p.Gln669Arg) c.4574A>G (p.Gln1525Arg) c.2235A>G c.*4446A>G (n.*4446A>G) c.4505A>G (p.Gln1502Arg) c.4502A>G (p.Gln1501Arg) c.2759A>G (p.Gln920Arg) c.1964A>G (p.Gln655Arg) c.1985A>G (p.Gln662Arg) n.1087A>G c.1625A>G (p.Gln542Arg) c.2259A>G n.3309A>G n.2593A>G c.597A>G c.117A>G c.4913A>G (p.Gln1638Arg) c.605A>G (p.Gln202Arg) c.610A>G c.1804A>G c.4934A>G (p.Gln1645Arg) c.4922A>G (p.Gln1641Arg) c.4862A>G (p.Gln1621Arg) c.4844A>G (p.Gln1615Arg) c.4595A>G (p.Gln1532Arg) c.4823A>G (p.Gln1608Arg) c.4589A>G (p.Gln1530Arg) c.2042A>G (p.Gln681Arg) c.1646A>G (p.Gln549Arg) c.2195A>G (p.Gln732Arg) c.2174A>G (p.Gln725Arg) | gnomAD v4 |
1 | g.7752488A>T | CA338145306 | CAMTA1 | c.1667A>T (p.Gln556Leu) c.2006A>T (p.Gln669Leu) c.4574A>T (p.Gln1525Leu) c.2235A>T c.*4446A>T (n.*4446A>T) c.4505A>T (p.Gln1502Leu) c.4502A>T (p.Gln1501Leu) c.2759A>T (p.Gln920Leu) c.1964A>T (p.Gln655Leu) c.1985A>T (p.Gln662Leu) n.1087A>T c.1625A>T (p.Gln542Leu) c.2259A>T n.3309A>T n.2593A>T c.597A>T c.117A>T c.4913A>T (p.Gln1638Leu) c.605A>T (p.Gln202Leu) c.610A>T c.1804A>T c.4934A>T (p.Gln1645Leu) c.4922A>T (p.Gln1641Leu) c.4862A>T (p.Gln1621Leu) c.4844A>T (p.Gln1615Leu) c.4595A>T (p.Gln1532Leu) c.4823A>T (p.Gln1608Leu) c.4589A>T (p.Gln1530Leu) c.2042A>T (p.Gln681Leu) c.1646A>T (p.Gln549Leu) c.2195A>T (p.Gln732Leu) c.2174A>T (p.Gln725Leu) | |
1 | g.7752489A>C | CA338145309 | CAMTA1 | c.1668A>C (p.Gln556His) c.2007A>C (p.Gln669His) c.4575A>C (p.Gln1525His) c.2236A>C c.*4447A>C (n.*4447A>C) c.4506A>C (p.Gln1502His) c.4503A>C (p.Gln1501His) c.2760A>C (p.Gln920His) c.1965A>C (p.Gln655His) c.1986A>C (p.Gln662His) n.1088A>C c.1626A>C (p.Gln542His) c.2260A>C n.3310A>C n.2594A>C c.598A>C c.118A>C c.4914A>C (p.Gln1638His) c.606A>C (p.Gln202His) c.611A>C c.1805A>C c.4935A>C (p.Gln1645His) c.4923A>C (p.Gln1641His) c.4863A>C (p.Gln1621His) c.4845A>C (p.Gln1615His) c.4596A>C (p.Gln1532His) c.4824A>C (p.Gln1608His) c.4590A>C (p.Gln1530His) c.2043A>C (p.Gln681His) c.1647A>C (p.Gln549His) c.2196A>C (p.Gln732His) c.2175A>C (p.Gln725His) | gnomAD v4 |
1 | g.7752489A>G | CA415826000 | CAMTA1 | c.1668A>G (p.Gln556=) c.2007A>G (p.Gln669=) c.4575A>G (p.Gln1525=) c.2236A>G c.*4447A>G (n.*4447A>G) c.4506A>G (p.Gln1502=) c.4503A>G (p.Gln1501=) c.2760A>G (p.Gln920=) c.1965A>G (p.Gln655=) c.1986A>G (p.Gln662=) n.1088A>G c.1626A>G (p.Gln542=) c.2260A>G n.3310A>G n.2594A>G c.598A>G c.118A>G c.4914A>G (p.Gln1638=) c.606A>G (p.Gln202=) c.611A>G c.1805A>G c.4935A>G (p.Gln1645=) c.4923A>G (p.Gln1641=) c.4863A>G (p.Gln1621=) c.4845A>G (p.Gln1615=) c.4596A>G (p.Gln1532=) c.4824A>G (p.Gln1608=) c.4590A>G (p.Gln1530=) c.2043A>G (p.Gln681=) c.1647A>G (p.Gln549=) c.2196A>G (p.Gln732=) c.2175A>G (p.Gln725=) | |
1 | g.7752489A>T | CA338145311 | CAMTA1 | c.1668A>T (p.Gln556His) c.2007A>T (p.Gln669His) c.4575A>T (p.Gln1525His) c.2236A>T c.*4447A>T (n.*4447A>T) c.4506A>T (p.Gln1502His) c.4503A>T (p.Gln1501His) c.2760A>T (p.Gln920His) c.1965A>T (p.Gln655His) c.1986A>T (p.Gln662His) n.1088A>T c.1626A>T (p.Gln542His) c.2260A>T n.3310A>T n.2594A>T c.598A>T c.118A>T c.4914A>T (p.Gln1638His) c.606A>T (p.Gln202His) c.611A>T c.1805A>T c.4935A>T (p.Gln1645His) c.4923A>T (p.Gln1641His) c.4863A>T (p.Gln1621His) c.4845A>T (p.Gln1615His) c.4596A>T (p.Gln1532His) c.4824A>T (p.Gln1608His) c.4590A>T (p.Gln1530His) c.2043A>T (p.Gln681His) c.1647A>T (p.Gln549His) c.2196A>T (p.Gln732His) c.2175A>T (p.Gln725His) | |
1 | g.7752490G>A | CA338145314 | CAMTA1 | c.1669G>A (p.Ala557Thr) c.2008G>A (p.Ala670Thr) c.4576G>A (p.Ala1526Thr) c.2237G>A c.*4448G>A (n.*4448G>A) c.4507G>A (p.Ala1503Thr) c.4504G>A (p.Ala1502Thr) c.2761G>A (p.Ala921Thr) c.1966G>A (p.Ala656Thr) c.1987G>A (p.Ala663Thr) n.1089G>A c.1627G>A (p.Ala543Thr) c.2261G>A n.3311G>A n.2595G>A c.599G>A c.119G>A c.4915G>A (p.Ala1639Thr) c.607G>A (p.Ala203Thr) c.612G>A c.1806G>A c.4936G>A (p.Ala1646Thr) c.4924G>A (p.Ala1642Thr) c.4864G>A (p.Ala1622Thr) c.4846G>A (p.Ala1616Thr) c.4597G>A (p.Ala1533Thr) c.4825G>A (p.Ala1609Thr) c.4591G>A (p.Ala1531Thr) c.2044G>A (p.Ala682Thr) c.1648G>A (p.Ala550Thr) c.2197G>A (p.Ala733Thr) c.2176G>A (p.Ala726Thr) | |
1 | g.7752490G>C | CA338145317 | CAMTA1 | c.1669G>C (p.Ala557Pro) c.2008G>C (p.Ala670Pro) c.4576G>C (p.Ala1526Pro) c.2237G>C c.*4448G>C (n.*4448G>C) c.4507G>C (p.Ala1503Pro) c.4504G>C (p.Ala1502Pro) c.2761G>C (p.Ala921Pro) c.1966G>C (p.Ala656Pro) c.1987G>C (p.Ala663Pro) n.1089G>C c.1627G>C (p.Ala543Pro) c.2261G>C n.3311G>C n.2595G>C c.599G>C c.119G>C c.4915G>C (p.Ala1639Pro) c.607G>C (p.Ala203Pro) c.612G>C c.1806G>C c.4936G>C (p.Ala1646Pro) c.4924G>C (p.Ala1642Pro) c.4864G>C (p.Ala1622Pro) c.4846G>C (p.Ala1616Pro) c.4597G>C (p.Ala1533Pro) c.4825G>C (p.Ala1609Pro) c.4591G>C (p.Ala1531Pro) c.2044G>C (p.Ala682Pro) c.1648G>C (p.Ala550Pro) c.2197G>C (p.Ala733Pro) c.2176G>C (p.Ala726Pro) | |
1 | g.7752490G>T | CA338145318 | CAMTA1 | c.1669G>T (p.Ala557Ser) c.2008G>T (p.Ala670Ser) c.4576G>T (p.Ala1526Ser) c.2237G>T c.*4448G>T (n.*4448G>T) c.4507G>T (p.Ala1503Ser) c.4504G>T (p.Ala1502Ser) c.2761G>T (p.Ala921Ser) c.1966G>T (p.Ala656Ser) c.1987G>T (p.Ala663Ser) n.1089G>T c.1627G>T (p.Ala543Ser) c.2261G>T n.3311G>T n.2595G>T c.599G>T c.119G>T c.4915G>T (p.Ala1639Ser) c.607G>T (p.Ala203Ser) c.612G>T c.1806G>T c.4936G>T (p.Ala1646Ser) c.4924G>T (p.Ala1642Ser) c.4864G>T (p.Ala1622Ser) c.4846G>T (p.Ala1616Ser) c.4597G>T (p.Ala1533Ser) c.4825G>T (p.Ala1609Ser) c.4591G>T (p.Ala1531Ser) c.2044G>T (p.Ala682Ser) c.1648G>T (p.Ala550Ser) c.2197G>T (p.Ala733Ser) c.2176G>T (p.Ala726Ser) | |
1 | g.7752491C>A | CA338145319 | CAMTA1 | c.1670C>A (p.Ala557Asp) c.2009C>A (p.Ala670Asp) c.4577C>A (p.Ala1526Asp) c.2238C>A c.*4449C>A (n.*4449C>A) c.4508C>A (p.Ala1503Asp) c.4505C>A (p.Ala1502Asp) c.2762C>A (p.Ala921Asp) c.1967C>A (p.Ala656Asp) c.1988C>A (p.Ala663Asp) n.1090C>A c.1628C>A (p.Ala543Asp) c.2262C>A n.3312C>A n.2596C>A c.600C>A c.120C>A c.4916C>A (p.Ala1639Asp) c.608C>A (p.Ala203Asp) c.613C>A c.1807C>A c.4937C>A (p.Ala1646Asp) c.4925C>A (p.Ala1642Asp) c.4865C>A (p.Ala1622Asp) c.4847C>A (p.Ala1616Asp) c.4598C>A (p.Ala1533Asp) c.4826C>A (p.Ala1609Asp) c.4592C>A (p.Ala1531Asp) c.2045C>A (p.Ala682Asp) c.1649C>A (p.Ala550Asp) c.2198C>A (p.Ala733Asp) c.2177C>A (p.Ala726Asp) | |
1 | g.7752491C>G | CA338145320 | CAMTA1 | c.1670C>G (p.Ala557Gly) c.2009C>G (p.Ala670Gly) c.4577C>G (p.Ala1526Gly) c.2238C>G c.*4449C>G (n.*4449C>G) c.4508C>G (p.Ala1503Gly) c.4505C>G (p.Ala1502Gly) c.2762C>G (p.Ala921Gly) c.1967C>G (p.Ala656Gly) c.1988C>G (p.Ala663Gly) n.1090C>G c.1628C>G (p.Ala543Gly) c.2262C>G n.3312C>G n.2596C>G c.600C>G c.120C>G c.4916C>G (p.Ala1639Gly) c.608C>G (p.Ala203Gly) c.613C>G c.1807C>G c.4937C>G (p.Ala1646Gly) c.4925C>G (p.Ala1642Gly) c.4865C>G (p.Ala1622Gly) c.4847C>G (p.Ala1616Gly) c.4598C>G (p.Ala1533Gly) c.4826C>G (p.Ala1609Gly) c.4592C>G (p.Ala1531Gly) c.2045C>G (p.Ala682Gly) c.1649C>G (p.Ala550Gly) c.2198C>G (p.Ala733Gly) c.2177C>G (p.Ala726Gly) | |
1 | g.7752491C>T | CA338145321 | CAMTA1 | c.1670C>T (p.Ala557Val) c.2009C>T (p.Ala670Val) c.4577C>T (p.Ala1526Val) c.2238C>T c.*4449C>T (n.*4449C>T) c.4508C>T (p.Ala1503Val) c.4505C>T (p.Ala1502Val) c.2762C>T (p.Ala921Val) c.1967C>T (p.Ala656Val) c.1988C>T (p.Ala663Val) n.1090C>T c.1628C>T (p.Ala543Val) c.2262C>T n.3312C>T n.2596C>T c.600C>T c.120C>T c.4916C>T (p.Ala1639Val) c.608C>T (p.Ala203Val) c.613C>T c.1807C>T c.4937C>T (p.Ala1646Val) c.4925C>T (p.Ala1642Val) c.4865C>T (p.Ala1622Val) c.4847C>T (p.Ala1616Val) c.4598C>T (p.Ala1533Val) c.4826C>T (p.Ala1609Val) c.4592C>T (p.Ala1531Val) c.2045C>T (p.Ala682Val) c.1649C>T (p.Ala550Val) c.2198C>T (p.Ala733Val) c.2177C>T (p.Ala726Val) | |
1 | g.7752492T>A | CA415826005 | CAMTA1 | c.1671T>A (p.Ala557=) c.2010T>A (p.Ala670=) c.4578T>A (p.Ala1526=) c.2239T>A c.*4450T>A (n.*4450T>A) c.4509T>A (p.Ala1503=) c.4506T>A (p.Ala1502=) c.2763T>A (p.Ala921=) c.1968T>A (p.Ala656=) c.1989T>A (p.Ala663=) n.1091T>A c.1629T>A (p.Ala543=) c.2263T>A n.3313T>A n.2597T>A c.601T>A c.121T>A c.4917T>A (p.Ala1639=) c.609T>A (p.Ala203=) c.614T>A c.1808T>A c.4938T>A (p.Ala1646=) c.4926T>A (p.Ala1642=) c.4866T>A (p.Ala1622=) c.4848T>A (p.Ala1616=) c.4599T>A (p.Ala1533=) c.4827T>A (p.Ala1609=) c.4593T>A (p.Ala1531=) c.2046T>A (p.Ala682=) c.1650T>A (p.Ala550=) c.2199T>A (p.Ala733=) c.2178T>A (p.Ala726=) | |
1 | g.7752492T>C | CA415826007 | CAMTA1 | c.1671T>C (p.Ala557=) c.2010T>C (p.Ala670=) c.4578T>C (p.Ala1526=) c.2239T>C c.*4450T>C (n.*4450T>C) c.4509T>C (p.Ala1503=) c.4506T>C (p.Ala1502=) c.2763T>C (p.Ala921=) c.1968T>C (p.Ala656=) c.1989T>C (p.Ala663=) n.1091T>C c.1629T>C (p.Ala543=) c.2263T>C n.3313T>C n.2597T>C c.601T>C c.121T>C c.4917T>C (p.Ala1639=) c.609T>C (p.Ala203=) c.614T>C c.1808T>C c.4938T>C (p.Ala1646=) c.4926T>C (p.Ala1642=) c.4866T>C (p.Ala1622=) c.4848T>C (p.Ala1616=) c.4599T>C (p.Ala1533=) c.4827T>C (p.Ala1609=) c.4593T>C (p.Ala1531=) c.2046T>C (p.Ala682=) c.1650T>C (p.Ala550=) c.2199T>C (p.Ala733=) c.2178T>C (p.Ala726=) | |
1 | g.7752492T>G | CA415826008 | CAMTA1 | c.1671T>G (p.Ala557=) c.2010T>G (p.Ala670=) c.4578T>G (p.Ala1526=) c.2239T>G c.*4450T>G (n.*4450T>G) c.4509T>G (p.Ala1503=) c.4506T>G (p.Ala1502=) c.2763T>G (p.Ala921=) c.1968T>G (p.Ala656=) c.1989T>G (p.Ala663=) n.1091T>G c.1629T>G (p.Ala543=) c.2263T>G n.3313T>G n.2597T>G c.601T>G c.121T>G c.4917T>G (p.Ala1639=) c.609T>G (p.Ala203=) c.614T>G c.1808T>G c.4938T>G (p.Ala1646=) c.4926T>G (p.Ala1642=) c.4866T>G (p.Ala1622=) c.4848T>G (p.Ala1616=) c.4599T>G (p.Ala1533=) c.4827T>G (p.Ala1609=) c.4593T>G (p.Ala1531=) c.2046T>G (p.Ala682=) c.1650T>G (p.Ala550=) c.2199T>G (p.Ala733=) c.2178T>G (p.Ala726=) | |
1 | g.7752493G>A | CA338145325 | CAMTA1 | c.1672G>A (p.Ala558Thr) c.2011G>A (p.Ala671Thr) c.4579G>A (p.Ala1527Thr) c.2240G>A c.*4451G>A (n.*4451G>A) c.4510G>A (p.Ala1504Thr) c.4507G>A (p.Ala1503Thr) c.2764G>A (p.Ala922Thr) c.1969G>A (p.Ala657Thr) c.1990G>A (p.Ala664Thr) n.1092G>A c.1630G>A (p.Ala544Thr) c.2264G>A n.3314G>A n.2598G>A c.602G>A c.122G>A c.4918G>A (p.Ala1640Thr) c.610G>A (p.Ala204Thr) c.615G>A c.1809G>A c.4939G>A (p.Ala1647Thr) c.4927G>A (p.Ala1643Thr) c.4867G>A (p.Ala1623Thr) c.4849G>A (p.Ala1617Thr) c.4600G>A (p.Ala1534Thr) c.4828G>A (p.Ala1610Thr) c.4594G>A (p.Ala1532Thr) c.2047G>A (p.Ala683Thr) c.1651G>A (p.Ala551Thr) c.2200G>A (p.Ala734Thr) c.2179G>A (p.Ala727Thr) | |
1 | g.7752493G>C | CA338145323 | CAMTA1 | c.1672G>C (p.Ala558Pro) c.2011G>C (p.Ala671Pro) c.4579G>C (p.Ala1527Pro) c.2240G>C c.*4451G>C (n.*4451G>C) c.4510G>C (p.Ala1504Pro) c.4507G>C (p.Ala1503Pro) c.2764G>C (p.Ala922Pro) c.1969G>C (p.Ala657Pro) c.1990G>C (p.Ala664Pro) n.1092G>C c.1630G>C (p.Ala544Pro) c.2264G>C n.3314G>C n.2598G>C c.602G>C c.122G>C c.4918G>C (p.Ala1640Pro) c.610G>C (p.Ala204Pro) c.615G>C c.1809G>C c.4939G>C (p.Ala1647Pro) c.4927G>C (p.Ala1643Pro) c.4867G>C (p.Ala1623Pro) c.4849G>C (p.Ala1617Pro) c.4600G>C (p.Ala1534Pro) c.4828G>C (p.Ala1610Pro) c.4594G>C (p.Ala1532Pro) c.2047G>C (p.Ala683Pro) c.1651G>C (p.Ala551Pro) c.2200G>C (p.Ala734Pro) c.2179G>C (p.Ala727Pro) | |
1 | g.7752493G>T | CA338145322 | CAMTA1 | c.1672G>T (p.Ala558Ser) c.2011G>T (p.Ala671Ser) c.4579G>T (p.Ala1527Ser) c.2240G>T c.*4451G>T (n.*4451G>T) c.4510G>T (p.Ala1504Ser) c.4507G>T (p.Ala1503Ser) c.2764G>T (p.Ala922Ser) c.1969G>T (p.Ala657Ser) c.1990G>T (p.Ala664Ser) n.1092G>T c.1630G>T (p.Ala544Ser) c.2264G>T n.3314G>T n.2598G>T c.602G>T c.122G>T c.4918G>T (p.Ala1640Ser) c.610G>T (p.Ala204Ser) c.615G>T c.1809G>T c.4939G>T (p.Ala1647Ser) c.4927G>T (p.Ala1643Ser) c.4867G>T (p.Ala1623Ser) c.4849G>T (p.Ala1617Ser) c.4600G>T (p.Ala1534Ser) c.4828G>T (p.Ala1610Ser) c.4594G>T (p.Ala1532Ser) c.2047G>T (p.Ala683Ser) c.1651G>T (p.Ala551Ser) c.2200G>T (p.Ala734Ser) c.2179G>T (p.Ala727Ser) | |
1 | g.7752494C>A | CA338145326 | CAMTA1 | c.1673C>A (p.Ala558Asp) c.2012C>A (p.Ala671Asp) c.4580C>A (p.Ala1527Asp) c.2241C>A c.*4452C>A (n.*4452C>A) c.4511C>A (p.Ala1504Asp) c.4508C>A (p.Ala1503Asp) c.2765C>A (p.Ala922Asp) c.1970C>A (p.Ala657Asp) c.1991C>A (p.Ala664Asp) n.1093C>A c.1631C>A (p.Ala544Asp) c.2265C>A n.3315C>A n.2599C>A c.603C>A c.123C>A c.4919C>A (p.Ala1640Asp) c.611C>A (p.Ala204Asp) c.616C>A c.1810C>A c.4940C>A (p.Ala1647Asp) c.4928C>A (p.Ala1643Asp) c.4868C>A (p.Ala1623Asp) c.4850C>A (p.Ala1617Asp) c.4601C>A (p.Ala1534Asp) c.4829C>A (p.Ala1610Asp) c.4595C>A (p.Ala1532Asp) c.2048C>A (p.Ala683Asp) c.1652C>A (p.Ala551Asp) c.2201C>A (p.Ala734Asp) c.2180C>A (p.Ala727Asp) | |
1 | g.7752494C>G | CA338145329 | CAMTA1 | c.1673C>G (p.Ala558Gly) c.2012C>G (p.Ala671Gly) c.4580C>G (p.Ala1527Gly) c.2241C>G c.*4452C>G (n.*4452C>G) c.4511C>G (p.Ala1504Gly) c.4508C>G (p.Ala1503Gly) c.2765C>G (p.Ala922Gly) c.1970C>G (p.Ala657Gly) c.1991C>G (p.Ala664Gly) n.1093C>G c.1631C>G (p.Ala544Gly) c.2265C>G n.3315C>G n.2599C>G c.603C>G c.123C>G c.4919C>G (p.Ala1640Gly) c.611C>G (p.Ala204Gly) c.616C>G c.1810C>G c.4940C>G (p.Ala1647Gly) c.4928C>G (p.Ala1643Gly) c.4868C>G (p.Ala1623Gly) c.4850C>G (p.Ala1617Gly) c.4601C>G (p.Ala1534Gly) c.4829C>G (p.Ala1610Gly) c.4595C>G (p.Ala1532Gly) c.2048C>G (p.Ala683Gly) c.1652C>G (p.Ala551Gly) c.2201C>G (p.Ala734Gly) c.2180C>G (p.Ala727Gly) | |
1 | g.7752494C>T | CA338145332 | CAMTA1 | c.1673C>T (p.Ala558Val) c.2012C>T (p.Ala671Val) c.4580C>T (p.Ala1527Val) c.2241C>T c.*4452C>T (n.*4452C>T) c.4511C>T (p.Ala1504Val) c.4508C>T (p.Ala1503Val) c.2765C>T (p.Ala922Val) c.1970C>T (p.Ala657Val) c.1991C>T (p.Ala664Val) n.1093C>T c.1631C>T (p.Ala544Val) c.2265C>T n.3315C>T n.2599C>T c.603C>T c.123C>T c.4919C>T (p.Ala1640Val) c.611C>T (p.Ala204Val) c.616C>T c.1810C>T c.4940C>T (p.Ala1647Val) c.4928C>T (p.Ala1643Val) c.4868C>T (p.Ala1623Val) c.4850C>T (p.Ala1617Val) c.4601C>T (p.Ala1534Val) c.4829C>T (p.Ala1610Val) c.4595C>T (p.Ala1532Val) c.2048C>T (p.Ala683Val) c.1652C>T (p.Ala551Val) c.2201C>T (p.Ala734Val) c.2180C>T (p.Ala727Val) | |
1 | g.7752495T>A | CA415826011 | CAMTA1 | c.1674T>A (p.Ala558=) c.2013T>A (p.Ala671=) c.4581T>A (p.Ala1527=) c.2242T>A c.*4453T>A (n.*4453T>A) c.4512T>A (p.Ala1504=) c.4509T>A (p.Ala1503=) c.2766T>A (p.Ala922=) c.1971T>A (p.Ala657=) c.1992T>A (p.Ala664=) n.1094T>A c.1632T>A (p.Ala544=) c.2266T>A n.3316T>A n.2600T>A c.604T>A c.124T>A c.4920T>A (p.Ala1640=) c.612T>A (p.Ala204=) c.617T>A c.1811T>A c.4941T>A (p.Ala1647=) c.4929T>A (p.Ala1643=) c.4869T>A (p.Ala1623=) c.4851T>A (p.Ala1617=) c.4602T>A (p.Ala1534=) c.4830T>A (p.Ala1610=) c.4596T>A (p.Ala1532=) c.2049T>A (p.Ala683=) c.1653T>A (p.Ala551=) c.2202T>A (p.Ala734=) c.2181T>A (p.Ala727=) | |
1 | g.7752495T>C | CA415826013 | CAMTA1 | c.1674T>C (p.Ala558=) c.2013T>C (p.Ala671=) c.4581T>C (p.Ala1527=) c.2242T>C c.*4453T>C (n.*4453T>C) c.4512T>C (p.Ala1504=) c.4509T>C (p.Ala1503=) c.2766T>C (p.Ala922=) c.1971T>C (p.Ala657=) c.1992T>C (p.Ala664=) n.1094T>C c.1632T>C (p.Ala544=) c.2266T>C n.3316T>C n.2600T>C c.604T>C c.124T>C c.4920T>C (p.Ala1640=) c.612T>C (p.Ala204=) c.617T>C c.1811T>C c.4941T>C (p.Ala1647=) c.4929T>C (p.Ala1643=) c.4869T>C (p.Ala1623=) c.4851T>C (p.Ala1617=) c.4602T>C (p.Ala1534=) c.4830T>C (p.Ala1610=) c.4596T>C (p.Ala1532=) c.2049T>C (p.Ala683=) c.1653T>C (p.Ala551=) c.2202T>C (p.Ala734=) c.2181T>C (p.Ala727=) | gnomAD v4 |
1 | g.7752495T>G | CA415826015 | CAMTA1 | c.1674T>G (p.Ala558=) c.2013T>G (p.Ala671=) c.4581T>G (p.Ala1527=) c.2242T>G c.*4453T>G (n.*4453T>G) c.4512T>G (p.Ala1504=) c.4509T>G (p.Ala1503=) c.2766T>G (p.Ala922=) c.1971T>G (p.Ala657=) c.1992T>G (p.Ala664=) n.1094T>G c.1632T>G (p.Ala544=) c.2266T>G n.3316T>G n.2600T>G c.604T>G c.124T>G c.4920T>G (p.Ala1640=) c.612T>G (p.Ala204=) c.617T>G c.1811T>G c.4941T>G (p.Ala1647=) c.4929T>G (p.Ala1643=) c.4869T>G (p.Ala1623=) c.4851T>G (p.Ala1617=) c.4602T>G (p.Ala1534=) c.4830T>G (p.Ala1610=) c.4596T>G (p.Ala1532=) c.2049T>G (p.Ala683=) c.1653T>G (p.Ala551=) c.2202T>G (p.Ala734=) c.2181T>G (p.Ala727=) | |
1 | g.7752496C>A | CA415826016 | CAMTA1 | c.1675C>A (p.Arg559=) c.2014C>A (p.Arg672=) c.4582C>A (p.Arg1528=) c.2243C>A c.*4454C>A (n.*4454C>A) c.4513C>A (p.Arg1505=) c.4510C>A (p.Arg1504=) c.2767C>A (p.Arg923=) c.1972C>A (p.Arg658=) c.1993C>A (p.Arg665=) n.1095C>A c.1633C>A (p.Arg545=) c.2267C>A n.3317C>A n.2601C>A c.605C>A c.125C>A c.4921C>A (p.Arg1641=) c.613C>A (p.Arg205=) c.618C>A c.1812C>A c.4942C>A (p.Arg1648=) c.4930C>A (p.Arg1644=) c.4870C>A (p.Arg1624=) c.4852C>A (p.Arg1618=) c.4603C>A (p.Arg1535=) c.4831C>A (p.Arg1611=) c.4597C>A (p.Arg1533=) c.2050C>A (p.Arg684=) c.1654C>A (p.Arg552=) c.2203C>A (p.Arg735=) c.2182C>A (p.Arg728=) | |
1 | g.7752496C= | CA1152049611 | CAMTA1 | c.1675C= (p.Arg559=) c.2014C= (p.Arg672=) c.4582C= (p.Arg1528=) c.2243C= c.*4454C= (n.*4454C=) c.4513C= (p.Arg1505=) c.4510C= (p.Arg1504=) c.2767C= (p.Arg923=) c.1972C= (p.Arg658=) c.1993C= (p.Arg665=) n.1095C= c.1633C= (p.Arg545=) c.2267C= n.3317C= n.2601C= c.605C= c.125C= c.4921C= (p.Arg1641=) c.613C= (p.Arg205=) c.618C= c.1812C= c.4942C= (p.Arg1648=) c.4930C= (p.Arg1644=) c.4870C= (p.Arg1624=) c.4852C= (p.Arg1618=) c.4603C= (p.Arg1535=) c.4831C= (p.Arg1611=) c.4597C= (p.Arg1533=) c.2050C= (p.Arg684=) c.1654C= (p.Arg552=) c.2203C= (p.Arg735=) c.2182C= (p.Arg728=) | |
1 | g.7752496C>G | CA338145334 | CAMTA1 | c.1675C>G (p.Arg559Gly) c.2014C>G (p.Arg672Gly) c.4582C>G (p.Arg1528Gly) c.2243C>G c.*4454C>G (n.*4454C>G) c.4513C>G (p.Arg1505Gly) c.4510C>G (p.Arg1504Gly) c.2767C>G (p.Arg923Gly) c.1972C>G (p.Arg658Gly) c.1993C>G (p.Arg665Gly) n.1095C>G c.1633C>G (p.Arg545Gly) c.2267C>G n.3317C>G n.2601C>G c.605C>G c.125C>G c.4921C>G (p.Arg1641Gly) c.613C>G (p.Arg205Gly) c.618C>G c.1812C>G c.4942C>G (p.Arg1648Gly) c.4930C>G (p.Arg1644Gly) c.4870C>G (p.Arg1624Gly) c.4852C>G (p.Arg1618Gly) c.4603C>G (p.Arg1535Gly) c.4831C>G (p.Arg1611Gly) c.4597C>G (p.Arg1533Gly) c.2050C>G (p.Arg684Gly) c.1654C>G (p.Arg552Gly) c.2203C>G (p.Arg735Gly) c.2182C>G (p.Arg728Gly) | |
1 | g.7752496C>T | CA16603760 | CAMTA1 | c.1675C>T (p.Arg559Ter) c.2014C>T (p.Arg672Ter) c.4582C>T (p.Arg1528Ter) c.2243C>T c.*4454C>T (n.*4454C>T) c.4513C>T (p.Arg1505Ter) c.4510C>T (p.Arg1504Ter) c.2767C>T (p.Arg923Ter) c.1972C>T (p.Arg658Ter) c.1993C>T (p.Arg665Ter) n.1095C>T c.1633C>T (p.Arg545Ter) c.2267C>T n.3317C>T n.2601C>T c.605C>T c.125C>T c.4921C>T (p.Arg1641Ter) c.613C>T (p.Arg205Ter) c.618C>T c.1812C>T c.4942C>T (p.Arg1648Ter) c.4930C>T (p.Arg1644Ter) c.4870C>T (p.Arg1624Ter) c.4852C>T (p.Arg1618Ter) c.4603C>T (p.Arg1535Ter) c.4831C>T (p.Arg1611Ter) c.4597C>T (p.Arg1533Ter) c.2050C>T (p.Arg684Ter) c.1654C>T (p.Arg552Ter) c.2203C>T (p.Arg735Ter) c.2182C>T (p.Arg728Ter) | ClinVar dbSNP |
1 | g.7752497G>A | CA567285 | CAMTA1 | c.1676G>A (p.Arg559Gln) c.2015G>A (p.Arg672Gln) c.4583G>A (p.Arg1528Gln) c.2244G>A c.*4455G>A (n.*4455G>A) c.4514G>A (p.Arg1505Gln) c.4511G>A (p.Arg1504Gln) c.2768G>A (p.Arg923Gln) c.1973G>A (p.Arg658Gln) c.1994G>A (p.Arg665Gln) n.1096G>A c.1634G>A (p.Arg545Gln) c.2268G>A n.3318G>A n.2602G>A c.606G>A c.126G>A c.4922G>A (p.Arg1641Gln) c.614G>A (p.Arg205Gln) c.619G>A c.1813G>A c.4943G>A (p.Arg1648Gln) c.4931G>A (p.Arg1644Gln) c.4871G>A (p.Arg1624Gln) c.4853G>A (p.Arg1618Gln) c.4604G>A (p.Arg1535Gln) c.4832G>A (p.Arg1611Gln) c.4598G>A (p.Arg1533Gln) c.2051G>A (p.Arg684Gln) c.1655G>A (p.Arg552Gln) c.2204G>A (p.Arg735Gln) c.2183G>A (p.Arg728Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7752497G>C | CA338145340 | CAMTA1 | c.1676G>C (p.Arg559Pro) c.2015G>C (p.Arg672Pro) c.4583G>C (p.Arg1528Pro) c.2244G>C c.*4455G>C (n.*4455G>C) c.4514G>C (p.Arg1505Pro) c.4511G>C (p.Arg1504Pro) c.2768G>C (p.Arg923Pro) c.1973G>C (p.Arg658Pro) c.1994G>C (p.Arg665Pro) n.1096G>C c.1634G>C (p.Arg545Pro) c.2268G>C n.3318G>C n.2602G>C c.606G>C c.126G>C c.4922G>C (p.Arg1641Pro) c.614G>C (p.Arg205Pro) c.619G>C c.1813G>C c.4943G>C (p.Arg1648Pro) c.4931G>C (p.Arg1644Pro) c.4871G>C (p.Arg1624Pro) c.4853G>C (p.Arg1618Pro) c.4604G>C (p.Arg1535Pro) c.4832G>C (p.Arg1611Pro) c.4598G>C (p.Arg1533Pro) c.2051G>C (p.Arg684Pro) c.1655G>C (p.Arg552Pro) c.2204G>C (p.Arg735Pro) c.2183G>C (p.Arg728Pro) | |
1 | g.7752497G= | CA1143648344 | CAMTA1 | c.1676G= (p.Arg559=) c.2015G= (p.Arg672=) c.4583G= (p.Arg1528=) c.2244G= c.*4455G= (n.*4455G=) c.4514G= (p.Arg1505=) c.4511G= (p.Arg1504=) c.2768G= (p.Arg923=) c.1973G= (p.Arg658=) c.1994G= (p.Arg665=) n.1096G= c.1634G= (p.Arg545=) c.2268G= n.3318G= n.2602G= c.606G= c.126G= c.4922G= (p.Arg1641=) c.614G= (p.Arg205=) c.619G= c.1813G= c.4943G= (p.Arg1648=) c.4931G= (p.Arg1644=) c.4871G= (p.Arg1624=) c.4853G= (p.Arg1618=) c.4604G= (p.Arg1535=) c.4832G= (p.Arg1611=) c.4598G= (p.Arg1533=) c.2051G= (p.Arg684=) c.1655G= (p.Arg552=) c.2204G= (p.Arg735=) c.2183G= (p.Arg728=) | |
1 | g.7752497G>T | CA338145343 | CAMTA1 | c.1676G>T (p.Arg559Leu) c.2015G>T (p.Arg672Leu) c.4583G>T (p.Arg1528Leu) c.2244G>T c.*4455G>T (n.*4455G>T) c.4514G>T (p.Arg1505Leu) c.4511G>T (p.Arg1504Leu) c.2768G>T (p.Arg923Leu) c.1973G>T (p.Arg658Leu) c.1994G>T (p.Arg665Leu) n.1096G>T c.1634G>T (p.Arg545Leu) c.2268G>T n.3318G>T n.2602G>T c.606G>T c.126G>T c.4922G>T (p.Arg1641Leu) c.614G>T (p.Arg205Leu) c.619G>T c.1813G>T c.4943G>T (p.Arg1648Leu) c.4931G>T (p.Arg1644Leu) c.4871G>T (p.Arg1624Leu) c.4853G>T (p.Arg1618Leu) c.4604G>T (p.Arg1535Leu) c.4832G>T (p.Arg1611Leu) c.4598G>T (p.Arg1533Leu) c.2051G>T (p.Arg684Leu) c.1655G>T (p.Arg552Leu) c.2204G>T (p.Arg735Leu) c.2183G>T (p.Arg728Leu) | |
1 | g.7752498A= | CA1152049617 | CAMTA1 | c.1677A= (p.Arg559=) c.2016A= (p.Arg672=) c.4584A= (p.Arg1528=) c.2245A= c.*4456A= (n.*4456A=) c.4515A= (p.Arg1505=) c.4512A= (p.Arg1504=) c.2769A= (p.Arg923=) c.1974A= (p.Arg658=) c.1995A= (p.Arg665=) n.1097A= c.1635A= (p.Arg545=) c.2269A= n.3319A= n.2603A= c.607A= c.127A= c.4923A= (p.Arg1641=) c.615A= (p.Arg205=) c.620A= c.1814A= c.4944A= (p.Arg1648=) c.4932A= (p.Arg1644=) c.4872A= (p.Arg1624=) c.4854A= (p.Arg1618=) c.4605A= (p.Arg1535=) c.4833A= (p.Arg1611=) c.4599A= (p.Arg1533=) c.2052A= (p.Arg684=) c.1656A= (p.Arg552=) c.2205A= (p.Arg735=) c.2184A= (p.Arg728=) | |
1 | g.7752498A>C | CA415826018 | CAMTA1 | c.1677A>C (p.Arg559=) c.2016A>C (p.Arg672=) c.4584A>C (p.Arg1528=) c.2245A>C c.*4456A>C (n.*4456A>C) c.4515A>C (p.Arg1505=) c.4512A>C (p.Arg1504=) c.2769A>C (p.Arg923=) c.1974A>C (p.Arg658=) c.1995A>C (p.Arg665=) n.1097A>C c.1635A>C (p.Arg545=) c.2269A>C n.3319A>C n.2603A>C c.607A>C c.127A>C c.4923A>C (p.Arg1641=) c.615A>C (p.Arg205=) c.620A>C c.1814A>C c.4944A>C (p.Arg1648=) c.4932A>C (p.Arg1644=) c.4872A>C (p.Arg1624=) c.4854A>C (p.Arg1618=) c.4605A>C (p.Arg1535=) c.4833A>C (p.Arg1611=) c.4599A>C (p.Arg1533=) c.2052A>C (p.Arg684=) c.1656A>C (p.Arg552=) c.2205A>C (p.Arg735=) c.2184A>C (p.Arg728=) | |
1 | g.7752498A>G | CA415826019 | CAMTA1 | c.1677A>G (p.Arg559=) c.2016A>G (p.Arg672=) c.4584A>G (p.Arg1528=) c.2245A>G c.*4456A>G (n.*4456A>G) c.4515A>G (p.Arg1505=) c.4512A>G (p.Arg1504=) c.2769A>G (p.Arg923=) c.1974A>G (p.Arg658=) c.1995A>G (p.Arg665=) n.1097A>G c.1635A>G (p.Arg545=) c.2269A>G n.3319A>G n.2603A>G c.607A>G c.127A>G c.4923A>G (p.Arg1641=) c.615A>G (p.Arg205=) c.620A>G c.1814A>G c.4944A>G (p.Arg1648=) c.4932A>G (p.Arg1644=) c.4872A>G (p.Arg1624=) c.4854A>G (p.Arg1618=) c.4605A>G (p.Arg1535=) c.4833A>G (p.Arg1611=) c.4599A>G (p.Arg1533=) c.2052A>G (p.Arg684=) c.1656A>G (p.Arg552=) c.2205A>G (p.Arg735=) c.2184A>G (p.Arg728=) | dbSNP |
1 | g.7752498A>T | CA415826020 | CAMTA1 | c.1677A>T (p.Arg559=) c.2016A>T (p.Arg672=) c.4584A>T (p.Arg1528=) c.2245A>T c.*4456A>T (n.*4456A>T) c.4515A>T (p.Arg1505=) c.4512A>T (p.Arg1504=) c.2769A>T (p.Arg923=) c.1974A>T (p.Arg658=) c.1995A>T (p.Arg665=) n.1097A>T c.1635A>T (p.Arg545=) c.2269A>T n.3319A>T n.2603A>T c.607A>T c.127A>T c.4923A>T (p.Arg1641=) c.615A>T (p.Arg205=) c.620A>T c.1814A>T c.4944A>T (p.Arg1648=) c.4932A>T (p.Arg1644=) c.4872A>T (p.Arg1624=) c.4854A>T (p.Arg1618=) c.4605A>T (p.Arg1535=) c.4833A>T (p.Arg1611=) c.4599A>T (p.Arg1533=) c.2052A>T (p.Arg684=) c.1656A>T (p.Arg552=) c.2205A>T (p.Arg735=) c.2184A>T (p.Arg728=) | |
1 | g.7752499A= | CA1152049621 | CAMTA1 | c.1678A= (p.Lys560=) c.2017A= (p.Lys673=) c.4585A= (p.Lys1529=) c.2246A= c.*4457A= (n.*4457A=) c.4516A= (p.Lys1506=) c.4513A= (p.Lys1505=) c.2770A= (p.Lys924=) c.1975A= (p.Lys659=) c.1996A= (p.Lys666=) n.1098A= c.1636A= (p.Lys546=) c.2270A= n.3320A= n.2604A= c.608A= c.128A= c.4924A= (p.Lys1642=) c.616A= (p.Lys206=) c.621A= c.1815A= c.4945A= (p.Lys1649=) c.4933A= (p.Lys1645=) c.4873A= (p.Lys1625=) c.4855A= (p.Lys1619=) c.4606A= (p.Lys1536=) c.4834A= (p.Lys1612=) c.4600A= (p.Lys1534=) c.2053A= (p.Lys685=) c.1657A= (p.Lys553=) c.2206A= (p.Lys736=) c.2185A= (p.Lys729=) | |
1 | g.7752499A>C | CA338145347 | CAMTA1 | c.1678A>C (p.Lys560Gln) c.2017A>C (p.Lys673Gln) c.4585A>C (p.Lys1529Gln) c.2246A>C c.*4457A>C (n.*4457A>C) c.4516A>C (p.Lys1506Gln) c.4513A>C (p.Lys1505Gln) c.2770A>C (p.Lys924Gln) c.1975A>C (p.Lys659Gln) c.1996A>C (p.Lys666Gln) n.1098A>C c.1636A>C (p.Lys546Gln) c.2270A>C n.3320A>C n.2604A>C c.608A>C c.128A>C c.4924A>C (p.Lys1642Gln) c.616A>C (p.Lys206Gln) c.621A>C c.1815A>C c.4945A>C (p.Lys1649Gln) c.4933A>C (p.Lys1645Gln) c.4873A>C (p.Lys1625Gln) c.4855A>C (p.Lys1619Gln) c.4606A>C (p.Lys1536Gln) c.4834A>C (p.Lys1612Gln) c.4600A>C (p.Lys1534Gln) c.2053A>C (p.Lys685Gln) c.1657A>C (p.Lys553Gln) c.2206A>C (p.Lys736Gln) c.2185A>C (p.Lys729Gln) | |
1 | g.7752499A>G | CA17241507 | CAMTA1 | c.1678A>G (p.Lys560Glu) c.2017A>G (p.Lys673Glu) c.4585A>G (p.Lys1529Glu) c.2246A>G c.*4457A>G (n.*4457A>G) c.4516A>G (p.Lys1506Glu) c.4513A>G (p.Lys1505Glu) c.2770A>G (p.Lys924Glu) c.1975A>G (p.Lys659Glu) c.1996A>G (p.Lys666Glu) n.1098A>G c.1636A>G (p.Lys546Glu) c.2270A>G n.3320A>G n.2604A>G c.608A>G c.128A>G c.4924A>G (p.Lys1642Glu) c.616A>G (p.Lys206Glu) c.621A>G c.1815A>G c.4945A>G (p.Lys1649Glu) c.4933A>G (p.Lys1645Glu) c.4873A>G (p.Lys1625Glu) c.4855A>G (p.Lys1619Glu) c.4606A>G (p.Lys1536Glu) c.4834A>G (p.Lys1612Glu) c.4600A>G (p.Lys1534Glu) c.2053A>G (p.Lys685Glu) c.1657A>G (p.Lys553Glu) c.2206A>G (p.Lys736Glu) c.2185A>G (p.Lys729Glu) | dbSNP |
1 | g.7752499A>T | CA338145351 | CAMTA1 | c.1678A>T (p.Lys560Ter) c.2017A>T (p.Lys673Ter) c.4585A>T (p.Lys1529Ter) c.2246A>T c.*4457A>T (n.*4457A>T) c.4516A>T (p.Lys1506Ter) c.4513A>T (p.Lys1505Ter) c.2770A>T (p.Lys924Ter) c.1975A>T (p.Lys659Ter) c.1996A>T (p.Lys666Ter) n.1098A>T c.1636A>T (p.Lys546Ter) c.2270A>T n.3320A>T n.2604A>T c.608A>T c.128A>T c.4924A>T (p.Lys1642Ter) c.616A>T (p.Lys206Ter) c.621A>T c.1815A>T c.4945A>T (p.Lys1649Ter) c.4933A>T (p.Lys1645Ter) c.4873A>T (p.Lys1625Ter) c.4855A>T (p.Lys1619Ter) c.4606A>T (p.Lys1536Ter) c.4834A>T (p.Lys1612Ter) c.4600A>T (p.Lys1534Ter) c.2053A>T (p.Lys685Ter) c.1657A>T (p.Lys553Ter) c.2206A>T (p.Lys736Ter) c.2185A>T (p.Lys729Ter) | |
1 | g.7752500A>C | CA338145355 | CAMTA1 | c.1679A>C (p.Lys560Thr) c.2018A>C (p.Lys673Thr) c.4586A>C (p.Lys1529Thr) c.2247A>C c.*4458A>C (n.*4458A>C) c.4517A>C (p.Lys1506Thr) c.4514A>C (p.Lys1505Thr) c.2771A>C (p.Lys924Thr) c.1976A>C (p.Lys659Thr) c.1997A>C (p.Lys666Thr) n.1099A>C c.1637A>C (p.Lys546Thr) c.2271A>C n.3321A>C n.2605A>C c.609A>C c.129A>C c.4925A>C (p.Lys1642Thr) c.617A>C (p.Lys206Thr) c.622A>C c.1816A>C c.4946A>C (p.Lys1649Thr) c.4934A>C (p.Lys1645Thr) c.4874A>C (p.Lys1625Thr) c.4856A>C (p.Lys1619Thr) c.4607A>C (p.Lys1536Thr) c.4835A>C (p.Lys1612Thr) c.4601A>C (p.Lys1534Thr) c.2054A>C (p.Lys685Thr) c.1658A>C (p.Lys553Thr) c.2207A>C (p.Lys736Thr) c.2186A>C (p.Lys729Thr) | |
1 | g.7752500A>G | CA338145357 | CAMTA1 | c.1679A>G (p.Lys560Arg) c.2018A>G (p.Lys673Arg) c.4586A>G (p.Lys1529Arg) c.2247A>G c.*4458A>G (n.*4458A>G) c.4517A>G (p.Lys1506Arg) c.4514A>G (p.Lys1505Arg) c.2771A>G (p.Lys924Arg) c.1976A>G (p.Lys659Arg) c.1997A>G (p.Lys666Arg) n.1099A>G c.1637A>G (p.Lys546Arg) c.2271A>G n.3321A>G n.2605A>G c.609A>G c.129A>G c.4925A>G (p.Lys1642Arg) c.617A>G (p.Lys206Arg) c.622A>G c.1816A>G c.4946A>G (p.Lys1649Arg) c.4934A>G (p.Lys1645Arg) c.4874A>G (p.Lys1625Arg) c.4856A>G (p.Lys1619Arg) c.4607A>G (p.Lys1536Arg) c.4835A>G (p.Lys1612Arg) c.4601A>G (p.Lys1534Arg) c.2054A>G (p.Lys685Arg) c.1658A>G (p.Lys553Arg) c.2207A>G (p.Lys736Arg) c.2186A>G (p.Lys729Arg) | gnomAD v4 |
1 | g.7752500A>T | CA338145360 | CAMTA1 | c.1679A>T (p.Lys560Ile) c.2018A>T (p.Lys673Ile) c.4586A>T (p.Lys1529Ile) c.2247A>T c.*4458A>T (n.*4458A>T) c.4517A>T (p.Lys1506Ile) c.4514A>T (p.Lys1505Ile) c.2771A>T (p.Lys924Ile) c.1976A>T (p.Lys659Ile) c.1997A>T (p.Lys666Ile) n.1099A>T c.1637A>T (p.Lys546Ile) c.2271A>T n.3321A>T n.2605A>T c.609A>T c.129A>T c.4925A>T (p.Lys1642Ile) c.617A>T (p.Lys206Ile) c.622A>T c.1816A>T c.4946A>T (p.Lys1649Ile) c.4934A>T (p.Lys1645Ile) c.4874A>T (p.Lys1625Ile) c.4856A>T (p.Lys1619Ile) c.4607A>T (p.Lys1536Ile) c.4835A>T (p.Lys1612Ile) c.4601A>T (p.Lys1534Ile) c.2054A>T (p.Lys685Ile) c.1658A>T (p.Lys553Ile) c.2207A>T (p.Lys736Ile) c.2186A>T (p.Lys729Ile) | |
1 | g.7752501A>C | CA338145366 | CAMTA1 | c.1680A>C (p.Lys560Asn) c.2019A>C (p.Lys673Asn) c.4587A>C (p.Lys1529Asn) c.2248A>C c.*4459A>C (n.*4459A>C) c.4518A>C (p.Lys1506Asn) c.4515A>C (p.Lys1505Asn) c.2772A>C (p.Lys924Asn) c.1977A>C (p.Lys659Asn) c.1998A>C (p.Lys666Asn) n.1100A>C c.1638A>C (p.Lys546Asn) c.2272A>C n.3322A>C n.2606A>C c.610A>C c.130A>C c.4926A>C (p.Lys1642Asn) c.618A>C (p.Lys206Asn) c.623A>C c.1817A>C c.4947A>C (p.Lys1649Asn) c.4935A>C (p.Lys1645Asn) c.4875A>C (p.Lys1625Asn) c.4857A>C (p.Lys1619Asn) c.4608A>C (p.Lys1536Asn) c.4836A>C (p.Lys1612Asn) c.4602A>C (p.Lys1534Asn) c.2055A>C (p.Lys685Asn) c.1659A>C (p.Lys553Asn) c.2208A>C (p.Lys736Asn) c.2187A>C (p.Lys729Asn) | |
1 | g.7752501A>G | CA415826021 | CAMTA1 | c.1680A>G (p.Lys560=) c.2019A>G (p.Lys673=) c.4587A>G (p.Lys1529=) c.2248A>G c.*4459A>G (n.*4459A>G) c.4518A>G (p.Lys1506=) c.4515A>G (p.Lys1505=) c.2772A>G (p.Lys924=) c.1977A>G (p.Lys659=) c.1998A>G (p.Lys666=) n.1100A>G c.1638A>G (p.Lys546=) c.2272A>G n.3322A>G n.2606A>G c.610A>G c.130A>G c.4926A>G (p.Lys1642=) c.618A>G (p.Lys206=) c.623A>G c.1817A>G c.4947A>G (p.Lys1649=) c.4935A>G (p.Lys1645=) c.4875A>G (p.Lys1625=) c.4857A>G (p.Lys1619=) c.4608A>G (p.Lys1536=) c.4836A>G (p.Lys1612=) c.4602A>G (p.Lys1534=) c.2055A>G (p.Lys685=) c.1659A>G (p.Lys553=) c.2208A>G (p.Lys736=) c.2187A>G (p.Lys729=) | |
1 | g.7752501A>T | CA338145363 | CAMTA1 | c.1680A>T (p.Lys560Asn) c.2019A>T (p.Lys673Asn) c.4587A>T (p.Lys1529Asn) c.2248A>T c.*4459A>T (n.*4459A>T) c.4518A>T (p.Lys1506Asn) c.4515A>T (p.Lys1505Asn) c.2772A>T (p.Lys924Asn) c.1977A>T (p.Lys659Asn) c.1998A>T (p.Lys666Asn) n.1100A>T c.1638A>T (p.Lys546Asn) c.2272A>T n.3322A>T n.2606A>T c.610A>T c.130A>T c.4926A>T (p.Lys1642Asn) c.618A>T (p.Lys206Asn) c.623A>T c.1817A>T c.4947A>T (p.Lys1649Asn) c.4935A>T (p.Lys1645Asn) c.4875A>T (p.Lys1625Asn) c.4857A>T (p.Lys1619Asn) c.4608A>T (p.Lys1536Asn) c.4836A>T (p.Lys1612Asn) c.4602A>T (p.Lys1534Asn) c.2055A>T (p.Lys685Asn) c.1659A>T (p.Lys553Asn) c.2208A>T (p.Lys736Asn) c.2187A>T (p.Lys729Asn) | |
1 | g.7752502A>C | CA338145370 | CAMTA1 | c.1681A>C (p.Ile561Leu) c.2020A>C (p.Ile674Leu) c.4588A>C (p.Ile1530Leu) c.2249A>C c.*4460A>C (n.*4460A>C) c.4519A>C (p.Ile1507Leu) c.4516A>C (p.Ile1506Leu) c.2773A>C (p.Ile925Leu) c.1978A>C (p.Ile660Leu) c.1999A>C (p.Ile667Leu) n.1101A>C c.1639A>C (p.Ile547Leu) c.2273A>C n.3323A>C n.2607A>C c.611A>C c.131A>C c.4927A>C (p.Ile1643Leu) c.619A>C (p.Ile207Leu) c.624A>C c.1818A>C c.4948A>C (p.Ile1650Leu) c.4936A>C (p.Ile1646Leu) c.4876A>C (p.Ile1626Leu) c.4858A>C (p.Ile1620Leu) c.4609A>C (p.Ile1537Leu) c.4837A>C (p.Ile1613Leu) c.4603A>C (p.Ile1535Leu) c.2056A>C (p.Ile686Leu) c.1660A>C (p.Ile554Leu) c.2209A>C (p.Ile737Leu) c.2188A>C (p.Ile730Leu) | |
1 | g.7752502A>G | CA338145374 | CAMTA1 | c.1681A>G (p.Ile561Val) c.2020A>G (p.Ile674Val) c.4588A>G (p.Ile1530Val) c.2249A>G c.*4460A>G (n.*4460A>G) c.4519A>G (p.Ile1507Val) c.4516A>G (p.Ile1506Val) c.2773A>G (p.Ile925Val) c.1978A>G (p.Ile660Val) c.1999A>G (p.Ile667Val) n.1101A>G c.1639A>G (p.Ile547Val) c.2273A>G n.3323A>G n.2607A>G c.611A>G c.131A>G c.4927A>G (p.Ile1643Val) c.619A>G (p.Ile207Val) c.624A>G c.1818A>G c.4948A>G (p.Ile1650Val) c.4936A>G (p.Ile1646Val) c.4876A>G (p.Ile1626Val) c.4858A>G (p.Ile1620Val) c.4609A>G (p.Ile1537Val) c.4837A>G (p.Ile1613Val) c.4603A>G (p.Ile1535Val) c.2056A>G (p.Ile686Val) c.1660A>G (p.Ile554Val) c.2209A>G (p.Ile737Val) c.2188A>G (p.Ile730Val) | |
1 | g.7752502A>T | CA338145378 | CAMTA1 | c.1681A>T (p.Ile561Leu) c.2020A>T (p.Ile674Leu) c.4588A>T (p.Ile1530Leu) c.2249A>T c.*4460A>T (n.*4460A>T) c.4519A>T (p.Ile1507Leu) c.4516A>T (p.Ile1506Leu) c.2773A>T (p.Ile925Leu) c.1978A>T (p.Ile660Leu) c.1999A>T (p.Ile667Leu) n.1101A>T c.1639A>T (p.Ile547Leu) c.2273A>T n.3323A>T n.2607A>T c.611A>T c.131A>T c.4927A>T (p.Ile1643Leu) c.619A>T (p.Ile207Leu) c.624A>T c.1818A>T c.4948A>T (p.Ile1650Leu) c.4936A>T (p.Ile1646Leu) c.4876A>T (p.Ile1626Leu) c.4858A>T (p.Ile1620Leu) c.4609A>T (p.Ile1537Leu) c.4837A>T (p.Ile1613Leu) c.4603A>T (p.Ile1535Leu) c.2056A>T (p.Ile686Leu) c.1660A>T (p.Ile554Leu) c.2209A>T (p.Ile737Leu) c.2188A>T (p.Ile730Leu) | |
1 | g.7752503T>A | CA338145381 | CAMTA1 | c.1682T>A (p.Ile561Lys) c.2021T>A (p.Ile674Lys) c.4589T>A (p.Ile1530Lys) c.2250T>A c.*4461T>A (n.*4461T>A) c.4520T>A (p.Ile1507Lys) c.4517T>A (p.Ile1506Lys) c.2774T>A (p.Ile925Lys) c.1979T>A (p.Ile660Lys) c.2000T>A (p.Ile667Lys) n.1102T>A c.1640T>A (p.Ile547Lys) c.2274T>A n.3324T>A n.2608T>A c.612T>A c.132T>A c.4928T>A (p.Ile1643Lys) c.620T>A (p.Ile207Lys) c.625T>A c.1819T>A c.4949T>A (p.Ile1650Lys) c.4937T>A (p.Ile1646Lys) c.4877T>A (p.Ile1626Lys) c.4859T>A (p.Ile1620Lys) c.4610T>A (p.Ile1537Lys) c.4838T>A (p.Ile1613Lys) c.4604T>A (p.Ile1535Lys) c.2057T>A (p.Ile686Lys) c.1661T>A (p.Ile554Lys) c.2210T>A (p.Ile737Lys) c.2189T>A (p.Ile730Lys) | |
1 | g.7752503T>C | CA338145385 | CAMTA1 | c.1682T>C (p.Ile561Thr) c.2021T>C (p.Ile674Thr) c.4589T>C (p.Ile1530Thr) c.2250T>C c.*4461T>C (n.*4461T>C) c.4520T>C (p.Ile1507Thr) c.4517T>C (p.Ile1506Thr) c.2774T>C (p.Ile925Thr) c.1979T>C (p.Ile660Thr) c.2000T>C (p.Ile667Thr) n.1102T>C c.1640T>C (p.Ile547Thr) c.2274T>C n.3324T>C n.2608T>C c.612T>C c.132T>C c.4928T>C (p.Ile1643Thr) c.620T>C (p.Ile207Thr) c.625T>C c.1819T>C c.4949T>C (p.Ile1650Thr) c.4937T>C (p.Ile1646Thr) c.4877T>C (p.Ile1626Thr) c.4859T>C (p.Ile1620Thr) c.4610T>C (p.Ile1537Thr) c.4838T>C (p.Ile1613Thr) c.4604T>C (p.Ile1535Thr) c.2057T>C (p.Ile686Thr) c.1661T>C (p.Ile554Thr) c.2210T>C (p.Ile737Thr) c.2189T>C (p.Ile730Thr) | gnomAD v4 |
1 | g.7752503T>G | CA338145390 | CAMTA1 | c.1682T>G (p.Ile561Arg) c.2021T>G (p.Ile674Arg) c.4589T>G (p.Ile1530Arg) c.2250T>G c.*4461T>G (n.*4461T>G) c.4520T>G (p.Ile1507Arg) c.4517T>G (p.Ile1506Arg) c.2774T>G (p.Ile925Arg) c.1979T>G (p.Ile660Arg) c.2000T>G (p.Ile667Arg) n.1102T>G c.1640T>G (p.Ile547Arg) c.2274T>G n.3324T>G n.2608T>G c.612T>G c.132T>G c.4928T>G (p.Ile1643Arg) c.620T>G (p.Ile207Arg) c.625T>G c.1819T>G c.4949T>G (p.Ile1650Arg) c.4937T>G (p.Ile1646Arg) c.4877T>G (p.Ile1626Arg) c.4859T>G (p.Ile1620Arg) c.4610T>G (p.Ile1537Arg) c.4838T>G (p.Ile1613Arg) c.4604T>G (p.Ile1535Arg) c.2057T>G (p.Ile686Arg) c.1661T>G (p.Ile554Arg) c.2210T>G (p.Ile737Arg) c.2189T>G (p.Ile730Arg) | |
1 | g.7752504A= | CA1152049625 | CAMTA1 | c.1683A= (p.Ile561=) c.2022A= (p.Ile674=) c.4590A= (p.Ile1530=) c.2251A= c.*4462A= (n.*4462A=) c.4521A= (p.Ile1507=) c.4518A= (p.Ile1506=) c.2775A= (p.Ile925=) c.1980A= (p.Ile660=) c.2001A= (p.Ile667=) n.1103A= c.1641A= (p.Ile547=) c.2275A= n.3325A= n.2609A= c.613A= c.133A= c.4929A= (p.Ile1643=) c.621A= (p.Ile207=) c.626A= c.1820A= c.4950A= (p.Ile1650=) c.4938A= (p.Ile1646=) c.4878A= (p.Ile1626=) c.4860A= (p.Ile1620=) c.4611A= (p.Ile1537=) c.4839A= (p.Ile1613=) c.4605A= (p.Ile1535=) c.2058A= (p.Ile686=) c.1662A= (p.Ile554=) c.2211A= (p.Ile737=) c.2190A= (p.Ile730=) | |
1 | g.7752504A>C | CA415826023 | CAMTA1 | c.1683A>C (p.Ile561=) c.2022A>C (p.Ile674=) c.4590A>C (p.Ile1530=) c.2251A>C c.*4462A>C (n.*4462A>C) c.4521A>C (p.Ile1507=) c.4518A>C (p.Ile1506=) c.2775A>C (p.Ile925=) c.1980A>C (p.Ile660=) c.2001A>C (p.Ile667=) n.1103A>C c.1641A>C (p.Ile547=) c.2275A>C n.3325A>C n.2609A>C c.613A>C c.133A>C c.4929A>C (p.Ile1643=) c.621A>C (p.Ile207=) c.626A>C c.1820A>C c.4950A>C (p.Ile1650=) c.4938A>C (p.Ile1646=) c.4878A>C (p.Ile1626=) c.4860A>C (p.Ile1620=) c.4611A>C (p.Ile1537=) c.4839A>C (p.Ile1613=) c.4605A>C (p.Ile1535=) c.2058A>C (p.Ile686=) c.1662A>C (p.Ile554=) c.2211A>C (p.Ile737=) c.2190A>C (p.Ile730=) | |
1 | g.7752504A>G | CA338145395 | CAMTA1 | c.1683A>G (p.Ile561Met) c.2022A>G (p.Ile674Met) c.4590A>G (p.Ile1530Met) c.2251A>G c.*4462A>G (n.*4462A>G) c.4521A>G (p.Ile1507Met) c.4518A>G (p.Ile1506Met) c.2775A>G (p.Ile925Met) c.1980A>G (p.Ile660Met) c.2001A>G (p.Ile667Met) n.1103A>G c.1641A>G (p.Ile547Met) c.2275A>G n.3325A>G n.2609A>G c.613A>G c.133A>G c.4929A>G (p.Ile1643Met) c.621A>G (p.Ile207Met) c.626A>G c.1820A>G c.4950A>G (p.Ile1650Met) c.4938A>G (p.Ile1646Met) c.4878A>G (p.Ile1626Met) c.4860A>G (p.Ile1620Met) c.4611A>G (p.Ile1537Met) c.4839A>G (p.Ile1613Met) c.4605A>G (p.Ile1535Met) c.2058A>G (p.Ile686Met) c.1662A>G (p.Ile554Met) c.2211A>G (p.Ile737Met) c.2190A>G (p.Ile730Met) | |
1 | g.7752504A>T | CA567286 | CAMTA1 | c.1683A>T (p.Ile561=) c.2022A>T (p.Ile674=) c.4590A>T (p.Ile1530=) c.2251A>T c.*4462A>T (n.*4462A>T) c.4521A>T (p.Ile1507=) c.4518A>T (p.Ile1506=) c.2775A>T (p.Ile925=) c.1980A>T (p.Ile660=) c.2001A>T (p.Ile667=) n.1103A>T c.1641A>T (p.Ile547=) c.2275A>T n.3325A>T n.2609A>T c.613A>T c.133A>T c.4929A>T (p.Ile1643=) c.621A>T (p.Ile207=) c.626A>T c.1820A>T c.4950A>T (p.Ile1650=) c.4938A>T (p.Ile1646=) c.4878A>T (p.Ile1626=) c.4860A>T (p.Ile1620=) c.4611A>T (p.Ile1537=) c.4839A>T (p.Ile1613=) c.4605A>T (p.Ile1535=) c.2058A>T (p.Ile686=) c.1662A>T (p.Ile554=) c.2211A>T (p.Ile737=) c.2190A>T (p.Ile730=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7752505A= | CA1152049631 | CAMTA1 | c.1684A= (p.Met562=) c.2023A= (p.Met675=) c.4591A= (p.Met1531=) c.2252A= c.*4463A= (n.*4463A=) c.4522A= (p.Met1508=) c.4519A= (p.Met1507=) c.2776A= (p.Met926=) c.1981A= (p.Met661=) c.2002A= (p.Met668=) n.1104A= c.1642A= (p.Met548=) c.2276A= n.3326A= n.2610A= c.614A= c.134A= c.4930A= (p.Met1644=) c.622A= (p.Met208=) c.627A= c.1821A= c.4951A= (p.Met1651=) c.4939A= (p.Met1647=) c.4879A= (p.Met1627=) c.4861A= (p.Met1621=) c.4612A= (p.Met1538=) c.4840A= (p.Met1614=) c.4606A= (p.Met1536=) c.2059A= (p.Met687=) c.1663A= (p.Met555=) c.2212A= (p.Met738=) c.2191A= (p.Met731=) | |
1 | g.7752505A>C | CA338145404 | CAMTA1 | c.1684A>C (p.Met562Leu) c.2023A>C (p.Met675Leu) c.4591A>C (p.Met1531Leu) c.2252A>C c.*4463A>C (n.*4463A>C) c.4522A>C (p.Met1508Leu) c.4519A>C (p.Met1507Leu) c.2776A>C (p.Met926Leu) c.1981A>C (p.Met661Leu) c.2002A>C (p.Met668Leu) n.1104A>C c.1642A>C (p.Met548Leu) c.2276A>C n.3326A>C n.2610A>C c.614A>C c.134A>C c.4930A>C (p.Met1644Leu) c.622A>C (p.Met208Leu) c.627A>C c.1821A>C c.4951A>C (p.Met1651Leu) c.4939A>C (p.Met1647Leu) c.4879A>C (p.Met1627Leu) c.4861A>C (p.Met1621Leu) c.4612A>C (p.Met1538Leu) c.4840A>C (p.Met1614Leu) c.4606A>C (p.Met1536Leu) c.2059A>C (p.Met687Leu) c.1663A>C (p.Met555Leu) c.2212A>C (p.Met738Leu) c.2191A>C (p.Met731Leu) | |
1 | g.7752505A>G | CA338145407 | CAMTA1 | c.1684A>G (p.Met562Val) c.2023A>G (p.Met675Val) c.4591A>G (p.Met1531Val) c.2252A>G c.*4463A>G (n.*4463A>G) c.4522A>G (p.Met1508Val) c.4519A>G (p.Met1507Val) c.2776A>G (p.Met926Val) c.1981A>G (p.Met661Val) c.2002A>G (p.Met668Val) n.1104A>G c.1642A>G (p.Met548Val) c.2276A>G n.3326A>G n.2610A>G c.614A>G c.134A>G c.4930A>G (p.Met1644Val) c.622A>G (p.Met208Val) c.627A>G c.1821A>G c.4951A>G (p.Met1651Val) c.4939A>G (p.Met1647Val) c.4879A>G (p.Met1627Val) c.4861A>G (p.Met1621Val) c.4612A>G (p.Met1538Val) c.4840A>G (p.Met1614Val) c.4606A>G (p.Met1536Val) c.2059A>G (p.Met687Val) c.1663A>G (p.Met555Val) c.2212A>G (p.Met738Val) c.2191A>G (p.Met731Val) | dbSNP gnomAD v4 |
1 | g.7752505A>T | CA338145410 | CAMTA1 | c.1684A>T (p.Met562Leu) c.2023A>T (p.Met675Leu) c.4591A>T (p.Met1531Leu) c.2252A>T c.*4463A>T (n.*4463A>T) c.4522A>T (p.Met1508Leu) c.4519A>T (p.Met1507Leu) c.2776A>T (p.Met926Leu) c.1981A>T (p.Met661Leu) c.2002A>T (p.Met668Leu) n.1104A>T c.1642A>T (p.Met548Leu) c.2276A>T n.3326A>T n.2610A>T c.614A>T c.134A>T c.4930A>T (p.Met1644Leu) c.622A>T (p.Met208Leu) c.627A>T c.1821A>T c.4951A>T (p.Met1651Leu) c.4939A>T (p.Met1647Leu) c.4879A>T (p.Met1627Leu) c.4861A>T (p.Met1621Leu) c.4612A>T (p.Met1538Leu) c.4840A>T (p.Met1614Leu) c.4606A>T (p.Met1536Leu) c.2059A>T (p.Met687Leu) c.1663A>T (p.Met555Leu) c.2212A>T (p.Met738Leu) c.2191A>T (p.Met731Leu) | |
1 | g.7752506T>A | CA338145413 | CAMTA1 | c.1685T>A (p.Met562Lys) c.2024T>A (p.Met675Lys) c.4592T>A (p.Met1531Lys) c.2253T>A c.*4464T>A (n.*4464T>A) c.4523T>A (p.Met1508Lys) c.4520T>A (p.Met1507Lys) c.2777T>A (p.Met926Lys) c.1982T>A (p.Met661Lys) c.2003T>A (p.Met668Lys) n.1105T>A c.1643T>A (p.Met548Lys) c.2277T>A n.3327T>A n.2611T>A c.615T>A c.135T>A c.4931T>A (p.Met1644Lys) c.623T>A (p.Met208Lys) c.628T>A c.1822T>A c.4952T>A (p.Met1651Lys) c.4940T>A (p.Met1647Lys) c.4880T>A (p.Met1627Lys) c.4862T>A (p.Met1621Lys) c.4613T>A (p.Met1538Lys) c.4841T>A (p.Met1614Lys) c.4607T>A (p.Met1536Lys) c.2060T>A (p.Met687Lys) c.1664T>A (p.Met555Lys) c.2213T>A (p.Met738Lys) c.2192T>A (p.Met731Lys) | |
1 | g.7752506T>C | CA338145417 | CAMTA1 | c.1685T>C (p.Met562Thr) c.2024T>C (p.Met675Thr) c.4592T>C (p.Met1531Thr) c.2253T>C c.*4464T>C (n.*4464T>C) c.4523T>C (p.Met1508Thr) c.4520T>C (p.Met1507Thr) c.2777T>C (p.Met926Thr) c.1982T>C (p.Met661Thr) c.2003T>C (p.Met668Thr) n.1105T>C c.1643T>C (p.Met548Thr) c.2277T>C n.3327T>C n.2611T>C c.615T>C c.135T>C c.4931T>C (p.Met1644Thr) c.623T>C (p.Met208Thr) c.628T>C c.1822T>C c.4952T>C (p.Met1651Thr) c.4940T>C (p.Met1647Thr) c.4880T>C (p.Met1627Thr) c.4862T>C (p.Met1621Thr) c.4613T>C (p.Met1538Thr) c.4841T>C (p.Met1614Thr) c.4607T>C (p.Met1536Thr) c.2060T>C (p.Met687Thr) c.1664T>C (p.Met555Thr) c.2213T>C (p.Met738Thr) c.2192T>C (p.Met731Thr) | |
1 | g.7752506T>G | CA338145420 | CAMTA1 | c.1685T>G (p.Met562Arg) c.2024T>G (p.Met675Arg) c.4592T>G (p.Met1531Arg) c.2253T>G c.*4464T>G (n.*4464T>G) c.4523T>G (p.Met1508Arg) c.4520T>G (p.Met1507Arg) c.2777T>G (p.Met926Arg) c.1982T>G (p.Met661Arg) c.2003T>G (p.Met668Arg) n.1105T>G c.1643T>G (p.Met548Arg) c.2277T>G n.3327T>G n.2611T>G c.615T>G c.135T>G c.4931T>G (p.Met1644Arg) c.623T>G (p.Met208Arg) c.628T>G c.1822T>G c.4952T>G (p.Met1651Arg) c.4940T>G (p.Met1647Arg) c.4880T>G (p.Met1627Arg) c.4862T>G (p.Met1621Arg) c.4613T>G (p.Met1538Arg) c.4841T>G (p.Met1614Arg) c.4607T>G (p.Met1536Arg) c.2060T>G (p.Met687Arg) c.1664T>G (p.Met555Arg) c.2213T>G (p.Met738Arg) c.2192T>G (p.Met731Arg) | |
1 | g.7752507G>A | CA338145428 | CAMTA1 | c.1686G>A (p.Met562Ile) c.2025G>A (p.Met675Ile) c.4593G>A (p.Met1531Ile) c.2254G>A c.*4465G>A (n.*4465G>A) c.4524G>A (p.Met1508Ile) c.4521G>A (p.Met1507Ile) c.2778G>A (p.Met926Ile) c.1983G>A (p.Met661Ile) c.2004G>A (p.Met668Ile) n.1106G>A c.1644G>A (p.Met548Ile) c.2278G>A n.3328G>A n.2612G>A c.616G>A c.136G>A c.4932G>A (p.Met1644Ile) c.624G>A (p.Met208Ile) c.629G>A c.1823G>A c.4953G>A (p.Met1651Ile) c.4941G>A (p.Met1647Ile) c.4881G>A (p.Met1627Ile) c.4863G>A (p.Met1621Ile) c.4614G>A (p.Met1538Ile) c.4842G>A (p.Met1614Ile) c.4608G>A (p.Met1536Ile) c.2061G>A (p.Met687Ile) c.1665G>A (p.Met555Ile) c.2214G>A (p.Met738Ile) c.2193G>A (p.Met731Ile) | dbSNP |
1 | g.7752507G>C | CA338145430 | CAMTA1 | c.1686G>C (p.Met562Ile) c.2025G>C (p.Met675Ile) c.4593G>C (p.Met1531Ile) c.2254G>C c.*4465G>C (n.*4465G>C) c.4524G>C (p.Met1508Ile) c.4521G>C (p.Met1507Ile) c.2778G>C (p.Met926Ile) c.1983G>C (p.Met661Ile) c.2004G>C (p.Met668Ile) n.1106G>C c.1644G>C (p.Met548Ile) c.2278G>C n.3328G>C n.2612G>C c.616G>C c.136G>C c.4932G>C (p.Met1644Ile) c.624G>C (p.Met208Ile) c.629G>C c.1823G>C c.4953G>C (p.Met1651Ile) c.4941G>C (p.Met1647Ile) c.4881G>C (p.Met1627Ile) c.4863G>C (p.Met1621Ile) c.4614G>C (p.Met1538Ile) c.4842G>C (p.Met1614Ile) c.4608G>C (p.Met1536Ile) c.2061G>C (p.Met687Ile) c.1665G>C (p.Met555Ile) c.2214G>C (p.Met738Ile) c.2193G>C (p.Met731Ile) | |
1 | g.7752507G= | CA1152049633 | CAMTA1 | c.1686G= (p.Met562=) c.2025G= (p.Met675=) c.4593G= (p.Met1531=) c.2254G= c.*4465G= (n.*4465G=) c.4524G= (p.Met1508=) c.4521G= (p.Met1507=) c.2778G= (p.Met926=) c.1983G= (p.Met661=) c.2004G= (p.Met668=) n.1106G= c.1644G= (p.Met548=) c.2278G= n.3328G= n.2612G= c.616G= c.136G= c.4932G= (p.Met1644=) c.624G= (p.Met208=) c.629G= c.1823G= c.4953G= (p.Met1651=) c.4941G= (p.Met1647=) c.4881G= (p.Met1627=) c.4863G= (p.Met1621=) c.4614G= (p.Met1538=) c.4842G= (p.Met1614=) c.4608G= (p.Met1536=) c.2061G= (p.Met687=) c.1665G= (p.Met555=) c.2214G= (p.Met738=) c.2193G= (p.Met731=) | |
1 | g.7752507G>T | CA338145425 | CAMTA1 | c.1686G>T (p.Met562Ile) c.2025G>T (p.Met675Ile) c.4593G>T (p.Met1531Ile) c.2254G>T c.*4465G>T (n.*4465G>T) c.4524G>T (p.Met1508Ile) c.4521G>T (p.Met1507Ile) c.2778G>T (p.Met926Ile) c.1983G>T (p.Met661Ile) c.2004G>T (p.Met668Ile) n.1106G>T c.1644G>T (p.Met548Ile) c.2278G>T n.3328G>T n.2612G>T c.616G>T c.136G>T c.4932G>T (p.Met1644Ile) c.624G>T (p.Met208Ile) c.629G>T c.1823G>T c.4953G>T (p.Met1651Ile) c.4941G>T (p.Met1647Ile) c.4881G>T (p.Met1627Ile) c.4863G>T (p.Met1621Ile) c.4614G>T (p.Met1538Ile) c.4842G>T (p.Met1614Ile) c.4608G>T (p.Met1536Ile) c.2061G>T (p.Met687Ile) c.1665G>T (p.Met555Ile) c.2214G>T (p.Met738Ile) c.2193G>T (p.Met731Ile) | |
1 | g.7752508A>C | CA415826027 | CAMTA1 | c.1687A>C (p.Arg563=) c.2026A>C (p.Arg676=) c.4594A>C (p.Arg1532=) c.2255A>C c.*4466A>C (n.*4466A>C) c.4525A>C (p.Arg1509=) c.4522A>C (p.Arg1508=) c.2779A>C (p.Arg927=) c.1984A>C (p.Arg662=) c.2005A>C (p.Arg669=) n.1107A>C c.1645A>C (p.Arg549=) c.2279A>C n.3329A>C n.2613A>C c.617A>C c.137A>C c.4933A>C (p.Arg1645=) c.625A>C (p.Arg209=) c.630A>C c.1824A>C c.4954A>C (p.Arg1652=) c.4942A>C (p.Arg1648=) c.4882A>C (p.Arg1628=) c.4864A>C (p.Arg1622=) c.4615A>C (p.Arg1539=) c.4843A>C (p.Arg1615=) c.4609A>C (p.Arg1537=) c.2062A>C (p.Arg688=) c.1666A>C (p.Arg556=) c.2215A>C (p.Arg739=) c.2194A>C (p.Arg732=) | gnomAD v4 |
1 | g.7752508A>G | CA338145433 | CAMTA1 | c.1687A>G (p.Arg563Gly) c.2026A>G (p.Arg676Gly) c.4594A>G (p.Arg1532Gly) c.2255A>G c.*4466A>G (n.*4466A>G) c.4525A>G (p.Arg1509Gly) c.4522A>G (p.Arg1508Gly) c.2779A>G (p.Arg927Gly) c.1984A>G (p.Arg662Gly) c.2005A>G (p.Arg669Gly) n.1107A>G c.1645A>G (p.Arg549Gly) c.2279A>G n.3329A>G n.2613A>G c.617A>G c.137A>G c.4933A>G (p.Arg1645Gly) c.625A>G (p.Arg209Gly) c.630A>G c.1824A>G c.4954A>G (p.Arg1652Gly) c.4942A>G (p.Arg1648Gly) c.4882A>G (p.Arg1628Gly) c.4864A>G (p.Arg1622Gly) c.4615A>G (p.Arg1539Gly) c.4843A>G (p.Arg1615Gly) c.4609A>G (p.Arg1537Gly) c.2062A>G (p.Arg688Gly) c.1666A>G (p.Arg556Gly) c.2215A>G (p.Arg739Gly) c.2194A>G (p.Arg732Gly) | |
1 | g.7752508A>T | CA338145437 | CAMTA1 | c.1687A>T (p.Arg563Trp) c.2026A>T (p.Arg676Trp) c.4594A>T (p.Arg1532Trp) c.2255A>T c.*4466A>T (n.*4466A>T) c.4525A>T (p.Arg1509Trp) c.4522A>T (p.Arg1508Trp) c.2779A>T (p.Arg927Trp) c.1984A>T (p.Arg662Trp) c.2005A>T (p.Arg669Trp) n.1107A>T c.1645A>T (p.Arg549Trp) c.2279A>T n.3329A>T n.2613A>T c.617A>T c.137A>T c.4933A>T (p.Arg1645Trp) c.625A>T (p.Arg209Trp) c.630A>T c.1824A>T c.4954A>T (p.Arg1652Trp) c.4942A>T (p.Arg1648Trp) c.4882A>T (p.Arg1628Trp) c.4864A>T (p.Arg1622Trp) c.4615A>T (p.Arg1539Trp) c.4843A>T (p.Arg1615Trp) c.4609A>T (p.Arg1537Trp) c.2062A>T (p.Arg688Trp) c.1666A>T (p.Arg556Trp) c.2215A>T (p.Arg739Trp) c.2194A>T (p.Arg732Trp) | |
1 | g.7752509G>A | CA567287 | CAMTA1 | c.1688G>A (p.Arg563Lys) c.2027G>A (p.Arg676Lys) c.4595G>A (p.Arg1532Lys) c.2256G>A c.*4467G>A (n.*4467G>A) c.4526G>A (p.Arg1509Lys) c.4523G>A (p.Arg1508Lys) c.2780G>A (p.Arg927Lys) c.1985G>A (p.Arg662Lys) c.2006G>A (p.Arg669Lys) n.1108G>A c.1646G>A (p.Arg549Lys) c.2280G>A n.3330G>A n.2614G>A c.618G>A c.138G>A c.4934G>A (p.Arg1645Lys) c.626G>A (p.Arg209Lys) c.631G>A c.1825G>A c.4955G>A (p.Arg1652Lys) c.4943G>A (p.Arg1648Lys) c.4883G>A (p.Arg1628Lys) c.4865G>A (p.Arg1622Lys) c.4616G>A (p.Arg1539Lys) c.4844G>A (p.Arg1615Lys) c.4610G>A (p.Arg1537Lys) c.2063G>A (p.Arg688Lys) c.1667G>A (p.Arg556Lys) c.2216G>A (p.Arg739Lys) c.2195G>A (p.Arg732Lys) | dbSNP ExAC |
1 | g.7752509G>C | CA338145450 | CAMTA1 | c.1688G>C (p.Arg563Thr) c.2027G>C (p.Arg676Thr) c.4595G>C (p.Arg1532Thr) c.2256G>C c.*4467G>C (n.*4467G>C) c.4526G>C (p.Arg1509Thr) c.4523G>C (p.Arg1508Thr) c.2780G>C (p.Arg927Thr) c.1985G>C (p.Arg662Thr) c.2006G>C (p.Arg669Thr) n.1108G>C c.1646G>C (p.Arg549Thr) c.2280G>C n.3330G>C n.2614G>C c.618G>C c.138G>C c.4934G>C (p.Arg1645Thr) c.626G>C (p.Arg209Thr) c.631G>C c.1825G>C c.4955G>C (p.Arg1652Thr) c.4943G>C (p.Arg1648Thr) c.4883G>C (p.Arg1628Thr) c.4865G>C (p.Arg1622Thr) c.4616G>C (p.Arg1539Thr) c.4844G>C (p.Arg1615Thr) c.4610G>C (p.Arg1537Thr) c.2063G>C (p.Arg688Thr) c.1667G>C (p.Arg556Thr) c.2216G>C (p.Arg739Thr) c.2195G>C (p.Arg732Thr) | |
1 | g.7752509G= | CA1142348976 | CAMTA1 | c.1688G= (p.Arg563=) c.2027G= (p.Arg676=) c.4595G= (p.Arg1532=) c.2256G= c.*4467G= (n.*4467G=) c.4526G= (p.Arg1509=) c.4523G= (p.Arg1508=) c.2780G= (p.Arg927=) c.1985G= (p.Arg662=) c.2006G= (p.Arg669=) n.1108G= c.1646G= (p.Arg549=) c.2280G= n.3330G= n.2614G= c.618G= c.138G= c.4934G= (p.Arg1645=) c.626G= (p.Arg209=) c.631G= c.1825G= c.4955G= (p.Arg1652=) c.4943G= (p.Arg1648=) c.4883G= (p.Arg1628=) c.4865G= (p.Arg1622=) c.4616G= (p.Arg1539=) c.4844G= (p.Arg1615=) c.4610G= (p.Arg1537=) c.2063G= (p.Arg688=) c.1667G= (p.Arg556=) c.2216G= (p.Arg739=) c.2195G= (p.Arg732=) | |
1 | g.7752509G>T | CA338145445 | CAMTA1 | c.1688G>T (p.Arg563Met) c.2027G>T (p.Arg676Met) c.4595G>T (p.Arg1532Met) c.2256G>T c.*4467G>T (n.*4467G>T) c.4526G>T (p.Arg1509Met) c.4523G>T (p.Arg1508Met) c.2780G>T (p.Arg927Met) c.1985G>T (p.Arg662Met) c.2006G>T (p.Arg669Met) n.1108G>T c.1646G>T (p.Arg549Met) c.2280G>T n.3330G>T n.2614G>T c.618G>T c.138G>T c.4934G>T (p.Arg1645Met) c.626G>T (p.Arg209Met) c.631G>T c.1825G>T c.4955G>T (p.Arg1652Met) c.4943G>T (p.Arg1648Met) c.4883G>T (p.Arg1628Met) c.4865G>T (p.Arg1622Met) c.4616G>T (p.Arg1539Met) c.4844G>T (p.Arg1615Met) c.4610G>T (p.Arg1537Met) c.2063G>T (p.Arg688Met) c.1667G>T (p.Arg556Met) c.2216G>T (p.Arg739Met) c.2195G>T (p.Arg732Met) | |
1 | g.7752510G>A | CA415826031 | CAMTA1 | c.1689G>A (p.Arg563=) c.2028G>A (p.Arg676=) c.4596G>A (p.Arg1532=) c.2257G>A c.*4468G>A (n.*4468G>A) c.4527G>A (p.Arg1509=) c.4524G>A (p.Arg1508=) c.2781G>A (p.Arg927=) c.1986G>A (p.Arg662=) c.2007G>A (p.Arg669=) n.1109G>A c.1647G>A (p.Arg549=) c.2281G>A n.3331G>A n.2615G>A c.619G>A c.139G>A c.4935G>A (p.Arg1645=) c.627G>A (p.Arg209=) c.632G>A c.1826G>A c.4956G>A (p.Arg1652=) c.4944G>A (p.Arg1648=) c.4884G>A (p.Arg1628=) c.4866G>A (p.Arg1622=) c.4617G>A (p.Arg1539=) c.4845G>A (p.Arg1615=) c.4611G>A (p.Arg1537=) c.2064G>A (p.Arg688=) c.1668G>A (p.Arg556=) c.2217G>A (p.Arg739=) c.2196G>A (p.Arg732=) | gnomAD v4 |
1 | g.7752510G>C | CA338145454 | CAMTA1 | c.1689G>C (p.Arg563Ser) c.2028G>C (p.Arg676Ser) c.4596G>C (p.Arg1532Ser) c.2257G>C c.*4468G>C (n.*4468G>C) c.4527G>C (p.Arg1509Ser) c.4524G>C (p.Arg1508Ser) c.2781G>C (p.Arg927Ser) c.1986G>C (p.Arg662Ser) c.2007G>C (p.Arg669Ser) n.1109G>C c.1647G>C (p.Arg549Ser) c.2281G>C n.3331G>C n.2615G>C c.619G>C c.139G>C c.4935G>C (p.Arg1645Ser) c.627G>C (p.Arg209Ser) c.632G>C c.1826G>C c.4956G>C (p.Arg1652Ser) c.4944G>C (p.Arg1648Ser) c.4884G>C (p.Arg1628Ser) c.4866G>C (p.Arg1622Ser) c.4617G>C (p.Arg1539Ser) c.4845G>C (p.Arg1615Ser) c.4611G>C (p.Arg1537Ser) c.2064G>C (p.Arg688Ser) c.1668G>C (p.Arg556Ser) c.2217G>C (p.Arg739Ser) c.2196G>C (p.Arg732Ser) | gnomAD v4 |
1 | g.7752510G>T | CA338145455 | CAMTA1 | c.1689G>T (p.Arg563Ser) c.2028G>T (p.Arg676Ser) c.4596G>T (p.Arg1532Ser) c.2257G>T c.*4468G>T (n.*4468G>T) c.4527G>T (p.Arg1509Ser) c.4524G>T (p.Arg1508Ser) c.2781G>T (p.Arg927Ser) c.1986G>T (p.Arg662Ser) c.2007G>T (p.Arg669Ser) n.1109G>T c.1647G>T (p.Arg549Ser) c.2281G>T n.3331G>T n.2615G>T c.619G>T c.139G>T c.4935G>T (p.Arg1645Ser) c.627G>T (p.Arg209Ser) c.632G>T c.1826G>T c.4956G>T (p.Arg1652Ser) c.4944G>T (p.Arg1648Ser) c.4884G>T (p.Arg1628Ser) c.4866G>T (p.Arg1622Ser) c.4617G>T (p.Arg1539Ser) c.4845G>T (p.Arg1615Ser) c.4611G>T (p.Arg1537Ser) c.2064G>T (p.Arg688Ser) c.1668G>T (p.Arg556Ser) c.2217G>T (p.Arg739Ser) c.2196G>T (p.Arg732Ser) | |
1 | g.7752511T>A | CA338145460 | CAMTA1 | c.1690T>A (p.Phe564Ile) c.2029T>A (p.Phe677Ile) c.4597T>A (p.Phe1533Ile) c.2258T>A c.*4469T>A (n.*4469T>A) c.4528T>A (p.Phe1510Ile) c.4525T>A (p.Phe1509Ile) c.2782T>A (p.Phe928Ile) c.1987T>A (p.Phe663Ile) c.2008T>A (p.Phe670Ile) n.1110T>A c.1648T>A (p.Phe550Ile) c.2282T>A n.3332T>A n.2616T>A c.620T>A c.140T>A c.4936T>A (p.Phe1646Ile) c.628T>A (p.Phe210Ile) c.633T>A c.1827T>A c.4957T>A (p.Phe1653Ile) c.4945T>A (p.Phe1649Ile) c.4885T>A (p.Phe1629Ile) c.4867T>A (p.Phe1623Ile) c.4618T>A (p.Phe1540Ile) c.4846T>A (p.Phe1616Ile) c.4612T>A (p.Phe1538Ile) c.2065T>A (p.Phe689Ile) c.1669T>A (p.Phe557Ile) c.2218T>A (p.Phe740Ile) c.2197T>A (p.Phe733Ile) | |
1 | g.7752511T>C | CA338145468 | CAMTA1 | c.1690T>C (p.Phe564Leu) c.2029T>C (p.Phe677Leu) c.4597T>C (p.Phe1533Leu) c.2258T>C c.*4469T>C (n.*4469T>C) c.4528T>C (p.Phe1510Leu) c.4525T>C (p.Phe1509Leu) c.2782T>C (p.Phe928Leu) c.1987T>C (p.Phe663Leu) c.2008T>C (p.Phe670Leu) n.1110T>C c.1648T>C (p.Phe550Leu) c.2282T>C n.3332T>C n.2616T>C c.620T>C c.140T>C c.4936T>C (p.Phe1646Leu) c.628T>C (p.Phe210Leu) c.633T>C c.1827T>C c.4957T>C (p.Phe1653Leu) c.4945T>C (p.Phe1649Leu) c.4885T>C (p.Phe1629Leu) c.4867T>C (p.Phe1623Leu) c.4618T>C (p.Phe1540Leu) c.4846T>C (p.Phe1616Leu) c.4612T>C (p.Phe1538Leu) c.2065T>C (p.Phe689Leu) c.1669T>C (p.Phe557Leu) c.2218T>C (p.Phe740Leu) c.2197T>C (p.Phe733Leu) | |
1 | g.7752511T>G | CA338145465 | CAMTA1 | c.1690T>G (p.Phe564Val) c.2029T>G (p.Phe677Val) c.4597T>G (p.Phe1533Val) c.2258T>G c.*4469T>G (n.*4469T>G) c.4528T>G (p.Phe1510Val) c.4525T>G (p.Phe1509Val) c.2782T>G (p.Phe928Val) c.1987T>G (p.Phe663Val) c.2008T>G (p.Phe670Val) n.1110T>G c.1648T>G (p.Phe550Val) c.2282T>G n.3332T>G n.2616T>G c.620T>G c.140T>G c.4936T>G (p.Phe1646Val) c.628T>G (p.Phe210Val) c.633T>G c.1827T>G c.4957T>G (p.Phe1653Val) c.4945T>G (p.Phe1649Val) c.4885T>G (p.Phe1629Val) c.4867T>G (p.Phe1623Val) c.4618T>G (p.Phe1540Val) c.4846T>G (p.Phe1616Val) c.4612T>G (p.Phe1538Val) c.2065T>G (p.Phe689Val) c.1669T>G (p.Phe557Val) c.2218T>G (p.Phe740Val) c.2197T>G (p.Phe733Val) | |
1 | g.7752512T>A | CA338145472 | CAMTA1 | c.1691T>A (p.Phe564Tyr) c.2030T>A (p.Phe677Tyr) c.4598T>A (p.Phe1533Tyr) c.2259T>A c.*4470T>A (n.*4470T>A) c.4529T>A (p.Phe1510Tyr) c.4526T>A (p.Phe1509Tyr) c.2783T>A (p.Phe928Tyr) c.1988T>A (p.Phe663Tyr) c.2009T>A (p.Phe670Tyr) n.1111T>A c.1649T>A (p.Phe550Tyr) c.2283T>A n.3333T>A n.2617T>A c.621T>A c.141T>A c.4937T>A (p.Phe1646Tyr) c.629T>A (p.Phe210Tyr) c.634T>A c.1828T>A c.4958T>A (p.Phe1653Tyr) c.4946T>A (p.Phe1649Tyr) c.4886T>A (p.Phe1629Tyr) c.4868T>A (p.Phe1623Tyr) c.4619T>A (p.Phe1540Tyr) c.4847T>A (p.Phe1616Tyr) c.4613T>A (p.Phe1538Tyr) c.2066T>A (p.Phe689Tyr) c.1670T>A (p.Phe557Tyr) c.2219T>A (p.Phe740Tyr) c.2198T>A (p.Phe733Tyr) | |
1 | g.7752512T>C | CA338145477 | CAMTA1 | c.1691T>C (p.Phe564Ser) c.2030T>C (p.Phe677Ser) c.4598T>C (p.Phe1533Ser) c.2259T>C c.*4470T>C (n.*4470T>C) c.4529T>C (p.Phe1510Ser) c.4526T>C (p.Phe1509Ser) c.2783T>C (p.Phe928Ser) c.1988T>C (p.Phe663Ser) c.2009T>C (p.Phe670Ser) n.1111T>C c.1649T>C (p.Phe550Ser) c.2283T>C n.3333T>C n.2617T>C c.621T>C c.141T>C c.4937T>C (p.Phe1646Ser) c.629T>C (p.Phe210Ser) c.634T>C c.1828T>C c.4958T>C (p.Phe1653Ser) c.4946T>C (p.Phe1649Ser) c.4886T>C (p.Phe1629Ser) c.4868T>C (p.Phe1623Ser) c.4619T>C (p.Phe1540Ser) c.4847T>C (p.Phe1616Ser) c.4613T>C (p.Phe1538Ser) c.2066T>C (p.Phe689Ser) c.1670T>C (p.Phe557Ser) c.2219T>C (p.Phe740Ser) c.2198T>C (p.Phe733Ser) | |
1 | g.7752512T>G | CA338145475 | CAMTA1 | c.1691T>G (p.Phe564Cys) c.2030T>G (p.Phe677Cys) c.4598T>G (p.Phe1533Cys) c.2259T>G c.*4470T>G (n.*4470T>G) c.4529T>G (p.Phe1510Cys) c.4526T>G (p.Phe1509Cys) c.2783T>G (p.Phe928Cys) c.1988T>G (p.Phe663Cys) c.2009T>G (p.Phe670Cys) n.1111T>G c.1649T>G (p.Phe550Cys) c.2283T>G n.3333T>G n.2617T>G c.621T>G c.141T>G c.4937T>G (p.Phe1646Cys) c.629T>G (p.Phe210Cys) c.634T>G c.1828T>G c.4958T>G (p.Phe1653Cys) c.4946T>G (p.Phe1649Cys) c.4886T>G (p.Phe1629Cys) c.4868T>G (p.Phe1623Cys) c.4619T>G (p.Phe1540Cys) c.4847T>G (p.Phe1616Cys) c.4613T>G (p.Phe1538Cys) c.2066T>G (p.Phe689Cys) c.1670T>G (p.Phe557Cys) c.2219T>G (p.Phe740Cys) c.2198T>G (p.Phe733Cys) | ClinVar dbSNP |
1 | g.7752513T>A | CA338145481 | CAMTA1 | c.1692T>A (p.Phe564Leu) c.2031T>A (p.Phe677Leu) c.4599T>A (p.Phe1533Leu) c.2260T>A c.*4471T>A (n.*4471T>A) c.4530T>A (p.Phe1510Leu) c.4527T>A (p.Phe1509Leu) c.2784T>A (p.Phe928Leu) c.1989T>A (p.Phe663Leu) c.2010T>A (p.Phe670Leu) n.1112T>A c.1650T>A (p.Phe550Leu) c.2284T>A n.3334T>A n.2618T>A c.622T>A c.142T>A c.4938T>A (p.Phe1646Leu) c.630T>A (p.Phe210Leu) c.635T>A c.1829T>A c.4959T>A (p.Phe1653Leu) c.4947T>A (p.Phe1649Leu) c.4887T>A (p.Phe1629Leu) c.4869T>A (p.Phe1623Leu) c.4620T>A (p.Phe1540Leu) c.4848T>A (p.Phe1616Leu) c.4614T>A (p.Phe1538Leu) c.2067T>A (p.Phe689Leu) c.1671T>A (p.Phe557Leu) c.2220T>A (p.Phe740Leu) c.2199T>A (p.Phe733Leu) | |
1 | g.7752513T>C | CA415826036 | CAMTA1 | c.1692T>C (p.Phe564=) c.2031T>C (p.Phe677=) c.4599T>C (p.Phe1533=) c.2260T>C c.*4471T>C (n.*4471T>C) c.4530T>C (p.Phe1510=) c.4527T>C (p.Phe1509=) c.2784T>C (p.Phe928=) c.1989T>C (p.Phe663=) c.2010T>C (p.Phe670=) n.1112T>C c.1650T>C (p.Phe550=) c.2284T>C n.3334T>C n.2618T>C c.622T>C c.142T>C c.4938T>C (p.Phe1646=) c.630T>C (p.Phe210=) c.635T>C c.1829T>C c.4959T>C (p.Phe1653=) c.4947T>C (p.Phe1649=) c.4887T>C (p.Phe1629=) c.4869T>C (p.Phe1623=) c.4620T>C (p.Phe1540=) c.4848T>C (p.Phe1616=) c.4614T>C (p.Phe1538=) c.2067T>C (p.Phe689=) c.1671T>C (p.Phe557=) c.2220T>C (p.Phe740=) c.2199T>C (p.Phe733=) | |
1 | g.7752513T>G | CA338145484 | CAMTA1 | c.1692T>G (p.Phe564Leu) c.2031T>G (p.Phe677Leu) c.4599T>G (p.Phe1533Leu) c.2260T>G c.*4471T>G (n.*4471T>G) c.4530T>G (p.Phe1510Leu) c.4527T>G (p.Phe1509Leu) c.2784T>G (p.Phe928Leu) c.1989T>G (p.Phe663Leu) c.2010T>G (p.Phe670Leu) n.1112T>G c.1650T>G (p.Phe550Leu) c.2284T>G n.3334T>G n.2618T>G c.622T>G c.142T>G c.4938T>G (p.Phe1646Leu) c.630T>G (p.Phe210Leu) c.635T>G c.1829T>G c.4959T>G (p.Phe1653Leu) c.4947T>G (p.Phe1649Leu) c.4887T>G (p.Phe1629Leu) c.4869T>G (p.Phe1623Leu) c.4620T>G (p.Phe1540Leu) c.4848T>G (p.Phe1616Leu) c.4614T>G (p.Phe1538Leu) c.2067T>G (p.Phe689Leu) c.1671T>G (p.Phe557Leu) c.2220T>G (p.Phe740Leu) c.2199T>G (p.Phe733Leu) | |
1 | g.7752514C>A | CA338145487 | CAMTA1 | c.1693C>A (p.Leu565Ile) c.2032C>A (p.Leu678Ile) c.4600C>A (p.Leu1534Ile) c.2261C>A c.*4472C>A (n.*4472C>A) c.4531C>A (p.Leu1511Ile) c.4528C>A (p.Leu1510Ile) c.2785C>A (p.Leu929Ile) c.1990C>A (p.Leu664Ile) c.2011C>A (p.Leu671Ile) n.1113C>A c.1651C>A (p.Leu551Ile) c.2285C>A n.3335C>A n.2619C>A c.623C>A c.143C>A c.4939C>A (p.Leu1647Ile) c.631C>A (p.Leu211Ile) c.636C>A c.1830C>A c.4960C>A (p.Leu1654Ile) c.4948C>A (p.Leu1650Ile) c.4888C>A (p.Leu1630Ile) c.4870C>A (p.Leu1624Ile) c.4621C>A (p.Leu1541Ile) c.4849C>A (p.Leu1617Ile) c.4615C>A (p.Leu1539Ile) c.2068C>A (p.Leu690Ile) c.1672C>A (p.Leu558Ile) c.2221C>A (p.Leu741Ile) c.2200C>A (p.Leu734Ile) | |
1 | g.7752514C>G | CA338145488 | CAMTA1 | c.1693C>G (p.Leu565Val) c.2032C>G (p.Leu678Val) c.4600C>G (p.Leu1534Val) c.2261C>G c.*4472C>G (n.*4472C>G) c.4531C>G (p.Leu1511Val) c.4528C>G (p.Leu1510Val) c.2785C>G (p.Leu929Val) c.1990C>G (p.Leu664Val) c.2011C>G (p.Leu671Val) n.1113C>G c.1651C>G (p.Leu551Val) c.2285C>G n.3335C>G n.2619C>G c.623C>G c.143C>G c.4939C>G (p.Leu1647Val) c.631C>G (p.Leu211Val) c.636C>G c.1830C>G c.4960C>G (p.Leu1654Val) c.4948C>G (p.Leu1650Val) c.4888C>G (p.Leu1630Val) c.4870C>G (p.Leu1624Val) c.4621C>G (p.Leu1541Val) c.4849C>G (p.Leu1617Val) c.4615C>G (p.Leu1539Val) c.2068C>G (p.Leu690Val) c.1672C>G (p.Leu558Val) c.2221C>G (p.Leu741Val) c.2200C>G (p.Leu734Val) | |
1 | g.7752514C>T | CA338145493 | CAMTA1 | c.1693C>T (p.Leu565Phe) c.2032C>T (p.Leu678Phe) c.4600C>T (p.Leu1534Phe) c.2261C>T c.*4472C>T (n.*4472C>T) c.4531C>T (p.Leu1511Phe) c.4528C>T (p.Leu1510Phe) c.2785C>T (p.Leu929Phe) c.1990C>T (p.Leu664Phe) c.2011C>T (p.Leu671Phe) n.1113C>T c.1651C>T (p.Leu551Phe) c.2285C>T n.3335C>T n.2619C>T c.623C>T c.143C>T c.4939C>T (p.Leu1647Phe) c.631C>T (p.Leu211Phe) c.636C>T c.1830C>T c.4960C>T (p.Leu1654Phe) c.4948C>T (p.Leu1650Phe) c.4888C>T (p.Leu1630Phe) c.4870C>T (p.Leu1624Phe) c.4621C>T (p.Leu1541Phe) c.4849C>T (p.Leu1617Phe) c.4615C>T (p.Leu1539Phe) c.2068C>T (p.Leu690Phe) c.1672C>T (p.Leu558Phe) c.2221C>T (p.Leu741Phe) c.2200C>T (p.Leu734Phe) | |
1 | g.7752515T>A | CA338145497 | CAMTA1 | c.1694T>A (p.Leu565His) c.2033T>A (p.Leu678His) c.4601T>A (p.Leu1534His) c.2262T>A c.*4473T>A (n.*4473T>A) c.4532T>A (p.Leu1511His) c.4529T>A (p.Leu1510His) c.2786T>A (p.Leu929His) c.1991T>A (p.Leu664His) c.2012T>A (p.Leu671His) n.1114T>A c.1652T>A (p.Leu551His) c.2286T>A n.3336T>A n.2620T>A c.624T>A c.144T>A c.4940T>A (p.Leu1647His) c.632T>A (p.Leu211His) c.637T>A c.1831T>A c.4961T>A (p.Leu1654His) c.4949T>A (p.Leu1650His) c.4889T>A (p.Leu1630His) c.4871T>A (p.Leu1624His) c.4622T>A (p.Leu1541His) c.4850T>A (p.Leu1617His) c.4616T>A (p.Leu1539His) c.2069T>A (p.Leu690His) c.1673T>A (p.Leu558His) c.2222T>A (p.Leu741His) c.2201T>A (p.Leu734His) | |
1 | g.7752515T>C | CA338145499 | CAMTA1 | c.1694T>C (p.Leu565Pro) c.2033T>C (p.Leu678Pro) c.4601T>C (p.Leu1534Pro) c.2262T>C c.*4473T>C (n.*4473T>C) c.4532T>C (p.Leu1511Pro) c.4529T>C (p.Leu1510Pro) c.2786T>C (p.Leu929Pro) c.1991T>C (p.Leu664Pro) c.2012T>C (p.Leu671Pro) n.1114T>C c.1652T>C (p.Leu551Pro) c.2286T>C n.3336T>C n.2620T>C c.624T>C c.144T>C c.4940T>C (p.Leu1647Pro) c.632T>C (p.Leu211Pro) c.637T>C c.1831T>C c.4961T>C (p.Leu1654Pro) c.4949T>C (p.Leu1650Pro) c.4889T>C (p.Leu1630Pro) c.4871T>C (p.Leu1624Pro) c.4622T>C (p.Leu1541Pro) c.4850T>C (p.Leu1617Pro) c.4616T>C (p.Leu1539Pro) c.2069T>C (p.Leu690Pro) c.1673T>C (p.Leu558Pro) c.2222T>C (p.Leu741Pro) c.2201T>C (p.Leu734Pro) | |
1 | g.7752515T>G | CA338145502 | CAMTA1 | c.1694T>G (p.Leu565Arg) c.2033T>G (p.Leu678Arg) c.4601T>G (p.Leu1534Arg) c.2262T>G c.*4473T>G (n.*4473T>G) c.4532T>G (p.Leu1511Arg) c.4529T>G (p.Leu1510Arg) c.2786T>G (p.Leu929Arg) c.1991T>G (p.Leu664Arg) c.2012T>G (p.Leu671Arg) n.1114T>G c.1652T>G (p.Leu551Arg) c.2286T>G n.3336T>G n.2620T>G c.624T>G c.144T>G c.4940T>G (p.Leu1647Arg) c.632T>G (p.Leu211Arg) c.637T>G c.1831T>G c.4961T>G (p.Leu1654Arg) c.4949T>G (p.Leu1650Arg) c.4889T>G (p.Leu1630Arg) c.4871T>G (p.Leu1624Arg) c.4622T>G (p.Leu1541Arg) c.4850T>G (p.Leu1617Arg) c.4616T>G (p.Leu1539Arg) c.2069T>G (p.Leu690Arg) c.1673T>G (p.Leu558Arg) c.2222T>G (p.Leu741Arg) c.2201T>G (p.Leu734Arg) | |
1 | g.7752516T>A | CA415826040 | CAMTA1 | c.1695T>A (p.Leu565=) c.2034T>A (p.Leu678=) c.4602T>A (p.Leu1534=) c.2263T>A c.*4474T>A (n.*4474T>A) c.4533T>A (p.Leu1511=) c.4530T>A (p.Leu1510=) c.2787T>A (p.Leu929=) c.1992T>A (p.Leu664=) c.2013T>A (p.Leu671=) n.1115T>A c.1653T>A (p.Leu551=) c.2287T>A n.3337T>A n.2621T>A c.625T>A c.145T>A c.4941T>A (p.Leu1647=) c.633T>A (p.Leu211=) c.638T>A c.1832T>A c.4962T>A (p.Leu1654=) c.4950T>A (p.Leu1650=) c.4890T>A (p.Leu1630=) c.4872T>A (p.Leu1624=) c.4623T>A (p.Leu1541=) c.4851T>A (p.Leu1617=) c.4617T>A (p.Leu1539=) c.2070T>A (p.Leu690=) c.1674T>A (p.Leu558=) c.2223T>A (p.Leu741=) c.2202T>A (p.Leu734=) | dbSNP |
1 | g.7752516T>C | CA415826041 | CAMTA1 | c.1695T>C (p.Leu565=) c.2034T>C (p.Leu678=) c.4602T>C (p.Leu1534=) c.2263T>C c.*4474T>C (n.*4474T>C) c.4533T>C (p.Leu1511=) c.4530T>C (p.Leu1510=) c.2787T>C (p.Leu929=) c.1992T>C (p.Leu664=) c.2013T>C (p.Leu671=) n.1115T>C c.1653T>C (p.Leu551=) c.2287T>C n.3337T>C n.2621T>C c.625T>C c.145T>C c.4941T>C (p.Leu1647=) c.633T>C (p.Leu211=) c.638T>C c.1832T>C c.4962T>C (p.Leu1654=) c.4950T>C (p.Leu1650=) c.4890T>C (p.Leu1630=) c.4872T>C (p.Leu1624=) c.4623T>C (p.Leu1541=) c.4851T>C (p.Leu1617=) c.4617T>C (p.Leu1539=) c.2070T>C (p.Leu690=) c.1674T>C (p.Leu558=) c.2223T>C (p.Leu741=) c.2202T>C (p.Leu734=) | |
1 | g.7752516T>G | CA415826042 | CAMTA1 | c.1695T>G (p.Leu565=) c.2034T>G (p.Leu678=) c.4602T>G (p.Leu1534=) c.2263T>G c.*4474T>G (n.*4474T>G) c.4533T>G (p.Leu1511=) c.4530T>G (p.Leu1510=) c.2787T>G (p.Leu929=) c.1992T>G (p.Leu664=) c.2013T>G (p.Leu671=) n.1115T>G c.1653T>G (p.Leu551=) c.2287T>G n.3337T>G n.2621T>G c.625T>G c.145T>G c.4941T>G (p.Leu1647=) c.633T>G (p.Leu211=) c.638T>G c.1832T>G c.4962T>G (p.Leu1654=) c.4950T>G (p.Leu1650=) c.4890T>G (p.Leu1630=) c.4872T>G (p.Leu1624=) c.4623T>G (p.Leu1541=) c.4851T>G (p.Leu1617=) c.4617T>G (p.Leu1539=) c.2070T>G (p.Leu690=) c.1674T>G (p.Leu558=) c.2223T>G (p.Leu741=) c.2202T>G (p.Leu734=) | |
1 | g.7752517C>A | CA338145505 | CAMTA1 | c.1696C>A (p.Arg566Ser) c.2035C>A (p.Arg679Ser) c.4603C>A (p.Arg1535Ser) c.2264C>A c.*4475C>A (n.*4475C>A) c.4534C>A (p.Arg1512Ser) c.4531C>A (p.Arg1511Ser) c.2788C>A (p.Arg930Ser) c.1993C>A (p.Arg665Ser) c.2014C>A (p.Arg672Ser) n.1116C>A c.1654C>A (p.Arg552Ser) c.2288C>A n.3338C>A n.2622C>A c.626C>A c.146C>A c.4942C>A (p.Arg1648Ser) c.634C>A (p.Arg212Ser) c.639C>A c.1833C>A c.4963C>A (p.Arg1655Ser) c.4951C>A (p.Arg1651Ser) c.4891C>A (p.Arg1631Ser) c.4873C>A (p.Arg1625Ser) c.4624C>A (p.Arg1542Ser) c.4852C>A (p.Arg1618Ser) c.4618C>A (p.Arg1540Ser) c.2071C>A (p.Arg691Ser) c.1675C>A (p.Arg559Ser) c.2224C>A (p.Arg742Ser) c.2203C>A (p.Arg735Ser) | gnomAD v4 |
1 | g.7752517C= | CA1143896388 | CAMTA1 | c.1696C= (p.Arg566=) c.2035C= (p.Arg679=) c.4603C= (p.Arg1535=) c.2264C= c.*4475C= (n.*4475C=) c.4534C= (p.Arg1512=) c.4531C= (p.Arg1511=) c.2788C= (p.Arg930=) c.1993C= (p.Arg665=) c.2014C= (p.Arg672=) n.1116C= c.1654C= (p.Arg552=) c.2288C= n.3338C= n.2622C= c.626C= c.146C= c.4942C= (p.Arg1648=) c.634C= (p.Arg212=) c.639C= c.1833C= c.4963C= (p.Arg1655=) c.4951C= (p.Arg1651=) c.4891C= (p.Arg1631=) c.4873C= (p.Arg1625=) c.4624C= (p.Arg1542=) c.4852C= (p.Arg1618=) c.4618C= (p.Arg1540=) c.2071C= (p.Arg691=) c.1675C= (p.Arg559=) c.2224C= (p.Arg742=) c.2203C= (p.Arg735=) | |
1 | g.7752517C>G | CA338145513 | CAMTA1 | c.1696C>G (p.Arg566Gly) c.2035C>G (p.Arg679Gly) c.4603C>G (p.Arg1535Gly) c.2264C>G c.*4475C>G (n.*4475C>G) c.4534C>G (p.Arg1512Gly) c.4531C>G (p.Arg1511Gly) c.2788C>G (p.Arg930Gly) c.1993C>G (p.Arg665Gly) c.2014C>G (p.Arg672Gly) n.1116C>G c.1654C>G (p.Arg552Gly) c.2288C>G n.3338C>G n.2622C>G c.626C>G c.146C>G c.4942C>G (p.Arg1648Gly) c.634C>G (p.Arg212Gly) c.639C>G c.1833C>G c.4963C>G (p.Arg1655Gly) c.4951C>G (p.Arg1651Gly) c.4891C>G (p.Arg1631Gly) c.4873C>G (p.Arg1625Gly) c.4624C>G (p.Arg1542Gly) c.4852C>G (p.Arg1618Gly) c.4618C>G (p.Arg1540Gly) c.2071C>G (p.Arg691Gly) c.1675C>G (p.Arg559Gly) c.2224C>G (p.Arg742Gly) c.2203C>G (p.Arg735Gly) | |
1 | g.7752517C>T | CA567288 | CAMTA1 | c.1696C>T (p.Arg566Cys) c.2035C>T (p.Arg679Cys) c.4603C>T (p.Arg1535Cys) c.2264C>T c.*4475C>T (n.*4475C>T) c.4534C>T (p.Arg1512Cys) c.4531C>T (p.Arg1511Cys) c.2788C>T (p.Arg930Cys) c.1993C>T (p.Arg665Cys) c.2014C>T (p.Arg672Cys) n.1116C>T c.1654C>T (p.Arg552Cys) c.2288C>T n.3338C>T n.2622C>T c.626C>T c.146C>T c.4942C>T (p.Arg1648Cys) c.634C>T (p.Arg212Cys) c.639C>T c.1833C>T c.4963C>T (p.Arg1655Cys) c.4951C>T (p.Arg1651Cys) c.4891C>T (p.Arg1631Cys) c.4873C>T (p.Arg1625Cys) c.4624C>T (p.Arg1542Cys) c.4852C>T (p.Arg1618Cys) c.4618C>T (p.Arg1540Cys) c.2071C>T (p.Arg691Cys) c.1675C>T (p.Arg559Cys) c.2224C>T (p.Arg742Cys) c.2203C>T (p.Arg735Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7752518G>A | CA338145517 | CAMTA1 | c.1697G>A (p.Arg566His) c.2036G>A (p.Arg679His) c.4604G>A (p.Arg1535His) c.2265G>A c.*4476G>A (n.*4476G>A) c.4535G>A (p.Arg1512His) c.4532G>A (p.Arg1511His) c.2789G>A (p.Arg930His) c.1994G>A (p.Arg665His) c.2015G>A (p.Arg672His) n.1117G>A c.1655G>A (p.Arg552His) c.2289G>A n.3339G>A n.2623G>A c.627G>A c.147G>A c.4943G>A (p.Arg1648His) c.635G>A (p.Arg212His) c.640G>A c.1834G>A c.4964G>A (p.Arg1655His) c.4952G>A (p.Arg1651His) c.4892G>A (p.Arg1631His) c.4874G>A (p.Arg1625His) c.4625G>A (p.Arg1542His) c.4853G>A (p.Arg1618His) c.4619G>A (p.Arg1540His) c.2072G>A (p.Arg691His) c.1676G>A (p.Arg559His) c.2225G>A (p.Arg742His) c.2204G>A (p.Arg735His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7752518G>C | CA338145519 | CAMTA1 | c.1697G>C (p.Arg566Pro) c.2036G>C (p.Arg679Pro) c.4604G>C (p.Arg1535Pro) c.2265G>C c.*4476G>C (n.*4476G>C) c.4535G>C (p.Arg1512Pro) c.4532G>C (p.Arg1511Pro) c.2789G>C (p.Arg930Pro) c.1994G>C (p.Arg665Pro) c.2015G>C (p.Arg672Pro) n.1117G>C c.1655G>C (p.Arg552Pro) c.2289G>C n.3339G>C n.2623G>C c.627G>C c.147G>C c.4943G>C (p.Arg1648Pro) c.635G>C (p.Arg212Pro) c.640G>C c.1834G>C c.4964G>C (p.Arg1655Pro) c.4952G>C (p.Arg1651Pro) c.4892G>C (p.Arg1631Pro) c.4874G>C (p.Arg1625Pro) c.4625G>C (p.Arg1542Pro) c.4853G>C (p.Arg1618Pro) c.4619G>C (p.Arg1540Pro) c.2072G>C (p.Arg691Pro) c.1676G>C (p.Arg559Pro) c.2225G>C (p.Arg742Pro) c.2204G>C (p.Arg735Pro) | |
1 | g.7752518G= | CA1152049647 | CAMTA1 | c.1697G= (p.Arg566=) c.2036G= (p.Arg679=) c.4604G= (p.Arg1535=) c.2265G= c.*4476G= (n.*4476G=) c.4535G= (p.Arg1512=) c.4532G= (p.Arg1511=) c.2789G= (p.Arg930=) c.1994G= (p.Arg665=) c.2015G= (p.Arg672=) n.1117G= c.1655G= (p.Arg552=) c.2289G= n.3339G= n.2623G= c.627G= c.147G= c.4943G= (p.Arg1648=) c.635G= (p.Arg212=) c.640G= c.1834G= c.4964G= (p.Arg1655=) c.4952G= (p.Arg1651=) c.4892G= (p.Arg1631=) c.4874G= (p.Arg1625=) c.4625G= (p.Arg1542=) c.4853G= (p.Arg1618=) c.4619G= (p.Arg1540=) c.2072G= (p.Arg691=) c.1676G= (p.Arg559=) c.2225G= (p.Arg742=) c.2204G= (p.Arg735=) | |
1 | g.7752518G>T | CA567289 | CAMTA1 | c.1697G>T (p.Arg566Leu) c.2036G>T (p.Arg679Leu) c.4604G>T (p.Arg1535Leu) c.2265G>T c.*4476G>T (n.*4476G>T) c.4535G>T (p.Arg1512Leu) c.4532G>T (p.Arg1511Leu) c.2789G>T (p.Arg930Leu) c.1994G>T (p.Arg665Leu) c.2015G>T (p.Arg672Leu) n.1117G>T c.1655G>T (p.Arg552Leu) c.2289G>T n.3339G>T n.2623G>T c.627G>T c.147G>T c.4943G>T (p.Arg1648Leu) c.635G>T (p.Arg212Leu) c.640G>T c.1834G>T c.4964G>T (p.Arg1655Leu) c.4952G>T (p.Arg1651Leu) c.4892G>T (p.Arg1631Leu) c.4874G>T (p.Arg1625Leu) c.4625G>T (p.Arg1542Leu) c.4853G>T (p.Arg1618Leu) c.4619G>T (p.Arg1540Leu) c.2072G>T (p.Arg691Leu) c.1676G>T (p.Arg559Leu) c.2225G>T (p.Arg742Leu) c.2204G>T (p.Arg735Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7752519C>A | CA415826049 | CAMTA1 | c.1698C>A (p.Arg566=) c.2037C>A (p.Arg679=) c.4605C>A (p.Arg1535=) c.2266C>A c.*4477C>A (n.*4477C>A) c.4536C>A (p.Arg1512=) c.4533C>A (p.Arg1511=) c.2790C>A (p.Arg930=) c.1995C>A (p.Arg665=) c.2016C>A (p.Arg672=) n.1118C>A c.1656C>A (p.Arg552=) c.2290C>A n.3340C>A n.2624C>A c.628C>A c.148C>A c.4944C>A (p.Arg1648=) c.636C>A (p.Arg212=) c.641C>A c.1835C>A c.4965C>A (p.Arg1655=) c.4953C>A (p.Arg1651=) c.4893C>A (p.Arg1631=) c.4875C>A (p.Arg1625=) c.4626C>A (p.Arg1542=) c.4854C>A (p.Arg1618=) c.4620C>A (p.Arg1540=) c.2073C>A (p.Arg691=) c.1677C>A (p.Arg559=) c.2226C>A (p.Arg742=) c.2205C>A (p.Arg735=) | |
1 | g.7752519C= | CA1152049650 | CAMTA1 | c.1698C= (p.Arg566=) c.2037C= (p.Arg679=) c.4605C= (p.Arg1535=) c.2266C= c.*4477C= (n.*4477C=) c.4536C= (p.Arg1512=) c.4533C= (p.Arg1511=) c.2790C= (p.Arg930=) c.1995C= (p.Arg665=) c.2016C= (p.Arg672=) n.1118C= c.1656C= (p.Arg552=) c.2290C= n.3340C= n.2624C= c.628C= c.148C= c.4944C= (p.Arg1648=) c.636C= (p.Arg212=) c.641C= c.1835C= c.4965C= (p.Arg1655=) c.4953C= (p.Arg1651=) c.4893C= (p.Arg1631=) c.4875C= (p.Arg1625=) c.4626C= (p.Arg1542=) c.4854C= (p.Arg1618=) c.4620C= (p.Arg1540=) c.2073C= (p.Arg691=) c.1677C= (p.Arg559=) c.2226C= (p.Arg742=) c.2205C= (p.Arg735=) | |
1 | g.7752519C>G | CA415826051 | CAMTA1 | c.1698C>G (p.Arg566=) c.2037C>G (p.Arg679=) c.4605C>G (p.Arg1535=) c.2266C>G c.*4477C>G (n.*4477C>G) c.4536C>G (p.Arg1512=) c.4533C>G (p.Arg1511=) c.2790C>G (p.Arg930=) c.1995C>G (p.Arg665=) c.2016C>G (p.Arg672=) n.1118C>G c.1656C>G (p.Arg552=) c.2290C>G n.3340C>G n.2624C>G c.628C>G c.148C>G c.4944C>G (p.Arg1648=) c.636C>G (p.Arg212=) c.641C>G c.1835C>G c.4965C>G (p.Arg1655=) c.4953C>G (p.Arg1651=) c.4893C>G (p.Arg1631=) c.4875C>G (p.Arg1625=) c.4626C>G (p.Arg1542=) c.4854C>G (p.Arg1618=) c.4620C>G (p.Arg1540=) c.2073C>G (p.Arg691=) c.1677C>G (p.Arg559=) c.2226C>G (p.Arg742=) c.2205C>G (p.Arg735=) | |
1 | g.7752519C>T | CA415826052 | CAMTA1 | c.1698C>T (p.Arg566=) c.2037C>T (p.Arg679=) c.4605C>T (p.Arg1535=) c.2266C>T c.*4477C>T (n.*4477C>T) c.4536C>T (p.Arg1512=) c.4533C>T (p.Arg1511=) c.2790C>T (p.Arg930=) c.1995C>T (p.Arg665=) c.2016C>T (p.Arg672=) n.1118C>T c.1656C>T (p.Arg552=) c.2290C>T n.3340C>T n.2624C>T c.628C>T c.148C>T c.4944C>T (p.Arg1648=) c.636C>T (p.Arg212=) c.641C>T c.1835C>T c.4965C>T (p.Arg1655=) c.4953C>T (p.Arg1651=) c.4893C>T (p.Arg1631=) c.4875C>T (p.Arg1625=) c.4626C>T (p.Arg1542=) c.4854C>T (p.Arg1618=) c.4620C>T (p.Arg1540=) c.2073C>T (p.Arg691=) c.1677C>T (p.Arg559=) c.2226C>T (p.Arg742=) c.2205C>T (p.Arg735=) | dbSNP |
1 | g.7752520C>A | CA338145529 | CAMTA1 | c.1699C>A (p.Arg567Ser) c.2038C>A (p.Arg680Ser) c.4606C>A (p.Arg1536Ser) c.2267C>A c.*4478C>A (n.*4478C>A) c.4537C>A (p.Arg1513Ser) c.4534C>A (p.Arg1512Ser) c.2791C>A (p.Arg931Ser) c.1996C>A (p.Arg666Ser) c.2017C>A (p.Arg673Ser) n.1119C>A c.1657C>A (p.Arg553Ser) c.2291C>A n.3341C>A n.2625C>A c.629C>A c.149C>A c.4945C>A (p.Arg1649Ser) c.637C>A (p.Arg213Ser) c.642C>A c.1836C>A c.4966C>A (p.Arg1656Ser) c.4954C>A (p.Arg1652Ser) c.4894C>A (p.Arg1632Ser) c.4876C>A (p.Arg1626Ser) c.4627C>A (p.Arg1543Ser) c.4855C>A (p.Arg1619Ser) c.4621C>A (p.Arg1541Ser) c.2074C>A (p.Arg692Ser) c.1678C>A (p.Arg560Ser) c.2227C>A (p.Arg743Ser) c.2206C>A (p.Arg736Ser) | |
1 | g.7752520C= | CA1152049655 | CAMTA1 | c.1699C= (p.Arg567=) c.2038C= (p.Arg680=) c.4606C= (p.Arg1536=) c.2267C= c.*4478C= (n.*4478C=) c.4537C= (p.Arg1513=) c.4534C= (p.Arg1512=) c.2791C= (p.Arg931=) c.1996C= (p.Arg666=) c.2017C= (p.Arg673=) n.1119C= c.1657C= (p.Arg553=) c.2291C= n.3341C= n.2625C= c.629C= c.149C= c.4945C= (p.Arg1649=) c.637C= (p.Arg213=) c.642C= c.1836C= c.4966C= (p.Arg1656=) c.4954C= (p.Arg1652=) c.4894C= (p.Arg1632=) c.4876C= (p.Arg1626=) c.4627C= (p.Arg1543=) c.4855C= (p.Arg1619=) c.4621C= (p.Arg1541=) c.2074C= (p.Arg692=) c.1678C= (p.Arg560=) c.2227C= (p.Arg743=) c.2206C= (p.Arg736=) | |
1 | g.7752520C>G | CA17241538 | CAMTA1 | c.1699C>G (p.Arg567Gly) c.2038C>G (p.Arg680Gly) c.4606C>G (p.Arg1536Gly) c.2267C>G c.*4478C>G (n.*4478C>G) c.4537C>G (p.Arg1513Gly) c.4534C>G (p.Arg1512Gly) c.2791C>G (p.Arg931Gly) c.1996C>G (p.Arg666Gly) c.2017C>G (p.Arg673Gly) n.1119C>G c.1657C>G (p.Arg553Gly) c.2291C>G n.3341C>G n.2625C>G c.629C>G c.149C>G c.4945C>G (p.Arg1649Gly) c.637C>G (p.Arg213Gly) c.642C>G c.1836C>G c.4966C>G (p.Arg1656Gly) c.4954C>G (p.Arg1652Gly) c.4894C>G (p.Arg1632Gly) c.4876C>G (p.Arg1626Gly) c.4627C>G (p.Arg1543Gly) c.4855C>G (p.Arg1619Gly) c.4621C>G (p.Arg1541Gly) c.2074C>G (p.Arg692Gly) c.1678C>G (p.Arg560Gly) c.2227C>G (p.Arg743Gly) c.2206C>G (p.Arg736Gly) | dbSNP |
1 | g.7752520C>T | CA567290 | CAMTA1 | c.1699C>T (p.Arg567Cys) c.2038C>T (p.Arg680Cys) c.4606C>T (p.Arg1536Cys) c.2267C>T c.*4478C>T (n.*4478C>T) c.4537C>T (p.Arg1513Cys) c.4534C>T (p.Arg1512Cys) c.2791C>T (p.Arg931Cys) c.1996C>T (p.Arg666Cys) c.2017C>T (p.Arg673Cys) n.1119C>T c.1657C>T (p.Arg553Cys) c.2291C>T n.3341C>T n.2625C>T c.629C>T c.149C>T c.4945C>T (p.Arg1649Cys) c.637C>T (p.Arg213Cys) c.642C>T c.1836C>T c.4966C>T (p.Arg1656Cys) c.4954C>T (p.Arg1652Cys) c.4894C>T (p.Arg1632Cys) c.4876C>T (p.Arg1626Cys) c.4627C>T (p.Arg1543Cys) c.4855C>T (p.Arg1619Cys) c.4621C>T (p.Arg1541Cys) c.2074C>T (p.Arg692Cys) c.1678C>T (p.Arg560Cys) c.2227C>T (p.Arg743Cys) c.2206C>T (p.Arg736Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |