Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.7752426_7752436delCA2643035855CAMTA1c.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
1g.7752425C>ACA2643035857CAMTA1c.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
1g.7752425C=CA1152049576CAMTA1c.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=)
1g.7752425C>TCA567275CAMTA1c.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
1g.7752425_7752428delinsCCTTCA1152049574CAMTA1c.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)
1g.7752426C>TCA2574197271CAMTA1c.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)
1g.7752429_7752431delCA567276CAMTA1c.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
1g.7752427T>ACA2545428002CAMTA1c.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
1g.7752429C>ACA2643035863CAMTA1c.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
1g.7752429C=CA1152049577CAMTA1c.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=)
1g.7752429C>GCA2574197273CAMTA1c.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)
1g.7752429C>TCA567277CAMTA1c.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
1g.7752432G>TCA2695509940CAMTA1c.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
1g.7752436C>ACA2643035864CAMTA1c.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
1g.7752436C>GCA2643035865CAMTA1c.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
1g.7752436C>TCA2643035866CAMTA1c.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
1g.7752439T>CCA2643035868CAMTA1c.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
1g.7752441_7752444delinsATATCA1152049579CAMTA1c.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)
1g.7752443_7752445delCA1152049581CAMTA1c.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
1g.7752445T>GCA17241450CAMTA1c.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
1g.7752445T=CA1152049583CAMTA1c.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=)
1g.7752449_7752450delinsACCA1152049584CAMTA1c.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)
1g.7752450delCA1152049585CAMTA1c.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
1g.7752450C>ACA2554263778CAMTA1c.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)
1g.7752450C=CA1152049587CAMTA1c.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=)
1g.7752450C>TCA567278CAMTA1c.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
1g.7752450_7752451delCA2742358971CAMTA1c.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)
1g.7752451T>GCA567279CAMTA1c.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
1g.7752451T=CA1152049591CAMTA1c.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=)
1g.7752455delCA2574197275CAMTA1c.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)
1g.7752452T>ACA2742358972CAMTA1c.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)
1g.7752453_7752456delCA2514244173CAMTA1c.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)
1g.7752454T>CCA567280CAMTA1c.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
1g.7752454T=CA1152049595CAMTA1c.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=)
1g.7752456C>ACA1152049599CAMTA1c.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
1g.7752456C=CA1152049597CAMTA1c.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=)
1g.7752456C>GCA2643035880CAMTA1c.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
1g.7752457A>CCA338145033CAMTA1c.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
1g.7752457A>GCA338145039CAMTA1c.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
1g.7752457A>TCA338145042CAMTA1c.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)
1g.7752458G>ACA338145053CAMTA1c.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)
1g.7752458G>CCA338145046CAMTA1c.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)
1g.7752458G>TCA338145050CAMTA1c.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)
1g.7752459G>ACA415825967CAMTA1c.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=)
1g.7752459G>CCA338145057CAMTA1c.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)
1g.7752459G>TCA338145059CAMTA1c.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)
1g.7752460A>CCA338145067CAMTA1c.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)
1g.7752460A>GCA338145068CAMTA1c.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)
1g.7752460A>TCA338145074CAMTA1c.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)
1g.7752461G>ACA338145077CAMTA1c.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)
1g.7752461G>CCA338145075CAMTA1c.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)
1g.7752461G>TCA338145076CAMTA1c.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
1g.7752462C>ACA338145079CAMTA1c.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)
1g.7752462C>GCA338145080CAMTA1c.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)
1g.7752462C>TCA415825972CAMTA1c.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=)
1g.7752463A=CA1152049601CAMTA1c.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=)
1g.7752463A>CCA338145084CAMTA1c.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)
1g.7752463A>GCA567281CAMTA1c.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
1g.7752463A>TCA338145091CAMTA1c.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)
1g.7752464G>ACA338145094CAMTA1c.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)
1g.7752464G>CCA338145095CAMTA1c.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)
1g.7752464G>TCA338145096CAMTA1c.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)
1g.7752465T>ACA338145099CAMTA1c.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)
1g.7752465T>CCA415825974CAMTA1c.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=)
1g.7752465T>GCA338145101CAMTA1c.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)
1g.7752466T>ACA338145105CAMTA1c.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)
1g.7752466T>CCA415825975CAMTA1c.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
1g.7752466T>GCA338145107CAMTA1c.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)
1g.7752467T>ACA338145112CAMTA1c.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)
1g.7752467T>CCA338145118CAMTA1c.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)
1g.7752467T>GCA338145115CAMTA1c.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)
1g.7752468G>ACA415825978CAMTA1c.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=)
1g.7752468G>CCA338145122CAMTA1c.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)
1g.7752468G>TCA338145125CAMTA1c.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
1g.7752469C>ACA338145130CAMTA1c.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)
1g.7752469C>GCA338145134CAMTA1c.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)
1g.7752469C>TCA415825980CAMTA1c.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
1g.7752470T>ACA338145139CAMTA1c.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)
1g.7752470T>CCA338145142CAMTA1c.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
1g.7752470T>GCA338145151CAMTA1c.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)
1g.7752471A>CCA415825981CAMTA1c.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=)
1g.7752471A>GCA415825982CAMTA1c.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=)
1g.7752471A>TCA415825986CAMTA1c.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=)
1g.7752472A>CCA338145155CAMTA1c.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)
1g.7752472A>GCA338145157CAMTA1c.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)
1g.7752472A>TCA338145162CAMTA1c.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)
1g.7752473C>ACA338145167CAMTA1c.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)
1g.7752473C>GCA338145169CAMTA1c.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)
1g.7752473C>TCA338145172CAMTA1c.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)
1g.7752474C>ACA415825987CAMTA1c.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
1g.7752474C>GCA415825988CAMTA1c.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=)
1g.7752474C>TCA415825989CAMTA1c.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=)
1g.7752475A>CCA338145176CAMTA1c.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)
1g.7752475A>GCA338145182CAMTA1c.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)
1g.7752475A>TCA338145178CAMTA1c.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)
1g.7752476A>CCA338145185CAMTA1c.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)
1g.7752476A>GCA338145187CAMTA1c.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)
1g.7752476A>TCA338145190CAMTA1c.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)
1g.7752477A>CCA338145193CAMTA1c.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)
1g.7752477A>GCA415825991CAMTA1c.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=)
1g.7752477A>TCA338145196CAMTA1c.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)
1g.7752478A>CCA338145200CAMTA1c.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)
1g.7752478A>GCA338145202CAMTA1c.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
1g.7752478A>TCA338145204CAMTA1c.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)
1g.7752479A=CA1148895316CAMTA1c.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=)
1g.7752479A>CCA338145207CAMTA1c.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)
1g.7752479A>GCA567282CAMTA1c.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
1g.7752479A>TCA338145212CAMTA1c.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)
1g.7752480G>ACA567283CAMTA1c.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
1g.7752480G>CCA338145220CAMTA1c.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)
1g.7752480G=CA1152049606CAMTA1c.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=)
1g.7752480G>TCA338145215CAMTA1c.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)
1g.7752481C>ACA338145228CAMTA1c.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)
1g.7752481C>GCA338145222CAMTA1c.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)
1g.7752481C>TCA338145226CAMTA1c.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
1g.7752482A>CCA338145233CAMTA1c.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)
1g.7752482A>GCA338145235CAMTA1c.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
1g.7752482A>TCA338145240CAMTA1c.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)
1g.7752483G>ACA415825996CAMTA1c.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=)
1g.7752483G>CCA338145244CAMTA1c.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
1g.7752483G>TCA338145247CAMTA1c.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)
1g.7752484G>ACA338145258CAMTA1c.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)
1g.7752484G>CCA338145250CAMTA1c.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
1g.7752484G>TCA338145254CAMTA1c.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)
1g.7752485A>CCA338145262CAMTA1c.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)
1g.7752485A>GCA338145266CAMTA1c.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)
1g.7752485A>TCA338145269CAMTA1c.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)
1g.7752486T>ACA338145273CAMTA1c.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)
1g.7752486T>CCA415825999CAMTA1c.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=)
1g.7752486T>GCA338145276CAMTA1c.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)
1g.7752487C>ACA338145283CAMTA1c.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)
1g.7752487C=CA1152049610CAMTA1c.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=)
1g.7752487C>GCA567284CAMTA1c.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
1g.7752487C>TCA338145288CAMTA1c.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)
1g.7752488A>CCA338145295CAMTA1c.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)
1g.7752488A>GCA338145299CAMTA1c.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
1g.7752488A>TCA338145306CAMTA1c.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)
1g.7752489A>CCA338145309CAMTA1c.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
1g.7752489A>GCA415826000CAMTA1c.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=)
1g.7752489A>TCA338145311CAMTA1c.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)
1g.7752490G>ACA338145314CAMTA1c.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)
1g.7752490G>CCA338145317CAMTA1c.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)
1g.7752490G>TCA338145318CAMTA1c.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)
1g.7752491C>ACA338145319CAMTA1c.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)
1g.7752491C>GCA338145320CAMTA1c.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)
1g.7752491C>TCA338145321CAMTA1c.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)
1g.7752492T>ACA415826005CAMTA1c.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=)
1g.7752492T>CCA415826007CAMTA1c.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=)
1g.7752492T>GCA415826008CAMTA1c.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=)
1g.7752493G>ACA338145325CAMTA1c.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)
1g.7752493G>CCA338145323CAMTA1c.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)
1g.7752493G>TCA338145322CAMTA1c.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)
1g.7752494C>ACA338145326CAMTA1c.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)
1g.7752494C>GCA338145329CAMTA1c.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)
1g.7752494C>TCA338145332CAMTA1c.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)
1g.7752495T>ACA415826011CAMTA1c.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=)
1g.7752495T>CCA415826013CAMTA1c.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
1g.7752495T>GCA415826015CAMTA1c.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=)
1g.7752496C>ACA415826016CAMTA1c.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=)
1g.7752496C=CA1152049611CAMTA1c.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=)
1g.7752496C>GCA338145334CAMTA1c.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)
1g.7752496C>TCA16603760CAMTA1c.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
1g.7752497G>ACA567285CAMTA1c.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
1g.7752497G>CCA338145340CAMTA1c.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)
1g.7752497G=CA1143648344CAMTA1c.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=)
1g.7752497G>TCA338145343CAMTA1c.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)
1g.7752498A=CA1152049617CAMTA1c.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=)
1g.7752498A>CCA415826018CAMTA1c.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=)
1g.7752498A>GCA415826019CAMTA1c.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
1g.7752498A>TCA415826020CAMTA1c.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=)
1g.7752499A=CA1152049621CAMTA1c.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=)
1g.7752499A>CCA338145347CAMTA1c.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)
1g.7752499A>GCA17241507CAMTA1c.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
1g.7752499A>TCA338145351CAMTA1c.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)
1g.7752500A>CCA338145355CAMTA1c.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)
1g.7752500A>GCA338145357CAMTA1c.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
1g.7752500A>TCA338145360CAMTA1c.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)
1g.7752501A>CCA338145366CAMTA1c.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)
1g.7752501A>GCA415826021CAMTA1c.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=)
1g.7752501A>TCA338145363CAMTA1c.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)
1g.7752502A>CCA338145370CAMTA1c.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)
1g.7752502A>GCA338145374CAMTA1c.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)
1g.7752502A>TCA338145378CAMTA1c.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)
1g.7752503T>ACA338145381CAMTA1c.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)
1g.7752503T>CCA338145385CAMTA1c.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
1g.7752503T>GCA338145390CAMTA1c.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)
1g.7752504A=CA1152049625CAMTA1c.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=)
1g.7752504A>CCA415826023CAMTA1c.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=)
1g.7752504A>GCA338145395CAMTA1c.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)
1g.7752504A>TCA567286CAMTA1c.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
1g.7752505A=CA1152049631CAMTA1c.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=)
1g.7752505A>CCA338145404CAMTA1c.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)
1g.7752505A>GCA338145407CAMTA1c.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
1g.7752505A>TCA338145410CAMTA1c.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)
1g.7752506T>ACA338145413CAMTA1c.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)
1g.7752506T>CCA338145417CAMTA1c.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)
1g.7752506T>GCA338145420CAMTA1c.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)
1g.7752507G>ACA338145428CAMTA1c.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
1g.7752507G>CCA338145430CAMTA1c.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)
1g.7752507G=CA1152049633CAMTA1c.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=)
1g.7752507G>TCA338145425CAMTA1c.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)
1g.7752508A>CCA415826027CAMTA1c.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
1g.7752508A>GCA338145433CAMTA1c.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)
1g.7752508A>TCA338145437CAMTA1c.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)
1g.7752509G>ACA567287CAMTA1c.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
1g.7752509G>CCA338145450CAMTA1c.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)
1g.7752509G=CA1142348976CAMTA1c.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=)
1g.7752509G>TCA338145445CAMTA1c.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)
1g.7752510G>ACA415826031CAMTA1c.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
1g.7752510G>CCA338145454CAMTA1c.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
1g.7752510G>TCA338145455CAMTA1c.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)
1g.7752511T>ACA338145460CAMTA1c.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)
1g.7752511T>CCA338145468CAMTA1c.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)
1g.7752511T>GCA338145465CAMTA1c.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)
1g.7752512T>ACA338145472CAMTA1c.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)
1g.7752512T>CCA338145477CAMTA1c.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)
1g.7752512T>GCA338145475CAMTA1c.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
1g.7752513T>ACA338145481CAMTA1c.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)
1g.7752513T>CCA415826036CAMTA1c.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=)
1g.7752513T>GCA338145484CAMTA1c.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)
1g.7752514C>ACA338145487CAMTA1c.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)
1g.7752514C>GCA338145488CAMTA1c.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)
1g.7752514C>TCA338145493CAMTA1c.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)
1g.7752515T>ACA338145497CAMTA1c.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)
1g.7752515T>CCA338145499CAMTA1c.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)
1g.7752515T>GCA338145502CAMTA1c.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)
1g.7752516T>ACA415826040CAMTA1c.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
1g.7752516T>CCA415826041CAMTA1c.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=)
1g.7752516T>GCA415826042CAMTA1c.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=)
1g.7752517C>ACA338145505CAMTA1c.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
1g.7752517C=CA1143896388CAMTA1c.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=)
1g.7752517C>GCA338145513CAMTA1c.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)
1g.7752517C>TCA567288CAMTA1c.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
1g.7752518G>ACA338145517CAMTA1c.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
1g.7752518G>CCA338145519CAMTA1c.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)
1g.7752518G=CA1152049647CAMTA1c.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=)
1g.7752518G>TCA567289CAMTA1c.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
1g.7752519C>ACA415826049CAMTA1c.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=)
1g.7752519C=CA1152049650CAMTA1c.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=)
1g.7752519C>GCA415826051CAMTA1c.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=)
1g.7752519C>TCA415826052CAMTA1c.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
1g.7752520C>ACA338145529CAMTA1c.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)
1g.7752520C=CA1152049655CAMTA1c.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=)
1g.7752520C>GCA17241538CAMTA1c.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
1g.7752520C>TCA567290CAMTA1c.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
1g.7752521G>ACA17241567CAMTA1c.1700G>A (p.Arg567His)
c.2039G>A (p.Arg680His)
c.4607G>A (p.Arg1536His)
c.2268G>A
c.*4479G>A (n.*4479G>A)
c.4538G>A (p.Arg1513His)
c.4535G>A (p.Arg1512His)
c.2792G>A (p.Arg931His)
c.1997G>A (p.Arg666His)
c.2018G>A (p.Arg673His)
n.1120G>A
c.1658G>A (p.Arg553His)
c.2292G>A
n.3342G>A
n.2626G>A
c.630G>A
c.150G>A
c.4946G>A (p.Arg1649His)
c.638G>A (p.Arg213His)
c.643G>A
c.1837G>A
c.4967G>A (p.Arg1656His)
c.4955G>A (p.Arg1652His)
c.4895G>A (p.Arg1632His)
c.4877G>A (p.Arg1626His)
c.4628G>A (p.Arg1543His)
c.4856G>A (p.Arg1619His)
c.4622G>A (p.Arg1541His)
c.2075G>A (p.Arg692His)
c.1679G>A (p.Arg560His)
c.2228G>A (p.Arg743His)
c.2207G>A (p.Arg736His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7752521G>CCA338145537CAMTA1c.1700G>C (p.Arg567Pro)
c.2039G>C (p.Arg680Pro)
c.4607G>C (p.Arg1536Pro)
c.2268G>C
c.*4479G>C (n.*4479G>C)
c.4538G>C (p.Arg1513Pro)
c.4535G>C (p.Arg1512Pro)
c.2792G>C (p.Arg931Pro)
c.1997G>C (p.Arg666Pro)
c.2018G>C (p.Arg673Pro)
n.1120G>C
c.1658G>C (p.Arg553Pro)
c.2292G>C
n.3342G>C
n.2626G>C
c.630G>C
c.150G>C
c.4946G>C (p.Arg1649Pro)
c.638G>C (p.Arg213Pro)
c.643G>C
c.1837G>C
c.4967G>C (p.Arg1656Pro)
c.4955G>C (p.Arg1652Pro)
c.4895G>C (p.Arg1632Pro)
c.4877G>C (p.Arg1626Pro)
c.4628G>C (p.Arg1543Pro)
c.4856G>C (p.Arg1619Pro)
c.4622G>C (p.Arg1541Pro)
c.2075G>C (p.Arg692Pro)
c.1679G>C (p.Arg560Pro)
c.2228G>C (p.Arg743Pro)
c.2207G>C (p.Arg736Pro)
1g.7752521G=CA1152049659CAMTA1c.1700G= (p.Arg567=)
c.2039G= (p.Arg680=)
c.4607G= (p.Arg1536=)
c.2268G=
c.*4479G= (n.*4479G=)
c.4538G= (p.Arg1513=)
c.4535G= (p.Arg1512=)
c.2792G= (p.Arg931=)
c.1997G= (p.Arg666=)
c.2018G= (p.Arg673=)
n.1120G=
c.1658G= (p.Arg553=)
c.2292G=
n.3342G=
n.2626G=
c.630G=
c.150G=
c.4946G= (p.Arg1649=)
c.638G= (p.Arg213=)
c.643G=
c.1837G=
c.4967G= (p.Arg1656=)
c.4955G= (p.Arg1652=)
c.4895G= (p.Arg1632=)
c.4877G= (p.Arg1626=)
c.4628G= (p.Arg1543=)
c.4856G= (p.Arg1619=)
c.4622G= (p.Arg1541=)
c.2075G= (p.Arg692=)
c.1679G= (p.Arg560=)
c.2228G= (p.Arg743=)
c.2207G= (p.Arg736=)
1g.7752521G>TCA338145540CAMTA1c.1700G>T (p.Arg567Leu)
c.2039G>T (p.Arg680Leu)
c.4607G>T (p.Arg1536Leu)
c.2268G>T
c.*4479G>T (n.*4479G>T)
c.4538G>T (p.Arg1513Leu)
c.4535G>T (p.Arg1512Leu)
c.2792G>T (p.Arg931Leu)
c.1997G>T (p.Arg666Leu)
c.2018G>T (p.Arg673Leu)
n.1120G>T
c.1658G>T (p.Arg553Leu)
c.2292G>T
n.3342G>T
n.2626G>T
c.630G>T
c.150G>T
c.4946G>T (p.Arg1649Leu)
c.638G>T (p.Arg213Leu)
c.643G>T
c.1837G>T
c.4967G>T (p.Arg1656Leu)
c.4955G>T (p.Arg1652Leu)
c.4895G>T (p.Arg1632Leu)
c.4877G>T (p.Arg1626Leu)
c.4628G>T (p.Arg1543Leu)
c.4856G>T (p.Arg1619Leu)
c.4622G>T (p.Arg1541Leu)
c.2075G>T (p.Arg692Leu)
c.1679G>T (p.Arg560Leu)
c.2228G>T (p.Arg743Leu)
c.2207G>T (p.Arg736Leu)
1g.7752522C>ACA415826056CAMTA1c.1701C>A (p.Arg567=)
c.2040C>A (p.Arg680=)
c.4608C>A (p.Arg1536=)
c.2269C>A
c.*4480C>A (n.*4480C>A)
c.4539C>A (p.Arg1513=)
c.4536C>A (p.Arg1512=)
c.2793C>A (p.Arg931=)
c.1998C>A (p.Arg666=)
c.2019C>A (p.Arg673=)
n.1121C>A
c.1659C>A (p.Arg553=)
c.2293C>A
n.3343C>A
n.2627C>A
c.631C>A
c.151C>A
c.4947C>A (p.Arg1649=)
c.639C>A (p.Arg213=)
c.644C>A
c.1838C>A
c.4968C>A (p.Arg1656=)
c.4956C>A (p.Arg1652=)
c.4896C>A (p.Arg1632=)
c.4878C>A (p.Arg1626=)
c.4629C>A (p.Arg1543=)
c.4857C>A (p.Arg1619=)
c.4623C>A (p.Arg1541=)
c.2076C>A (p.Arg692=)
c.1680C>A (p.Arg560=)
c.2229C>A (p.Arg743=)
c.2208C>A (p.Arg736=)
1g.7752522C=CA1152049663CAMTA1c.1701C= (p.Arg567=)
c.2040C= (p.Arg680=)
c.4608C= (p.Arg1536=)
c.2269C=
c.*4480C= (n.*4480C=)
c.4539C= (p.Arg1513=)
c.4536C= (p.Arg1512=)
c.2793C= (p.Arg931=)
c.1998C= (p.Arg666=)
c.2019C= (p.Arg673=)
n.1121C=
c.1659C= (p.Arg553=)
c.2293C=
n.3343C=
n.2627C=
c.631C=
c.151C=
c.4947C= (p.Arg1649=)
c.639C= (p.Arg213=)
c.644C=
c.1838C=
c.4968C= (p.Arg1656=)
c.4956C= (p.Arg1652=)
c.4896C= (p.Arg1632=)
c.4878C= (p.Arg1626=)
c.4629C= (p.Arg1543=)
c.4857C= (p.Arg1619=)
c.4623C= (p.Arg1541=)
c.2076C= (p.Arg692=)
c.1680C= (p.Arg560=)
c.2229C= (p.Arg743=)
c.2208C= (p.Arg736=)
1g.7752522C>GCA415826057CAMTA1c.1701C>G (p.Arg567=)
c.2040C>G (p.Arg680=)
c.4608C>G (p.Arg1536=)
c.2269C>G
c.*4480C>G (n.*4480C>G)
c.4539C>G (p.Arg1513=)
c.4536C>G (p.Arg1512=)
c.2793C>G (p.Arg931=)
c.1998C>G (p.Arg666=)
c.2019C>G (p.Arg673=)
n.1121C>G
c.1659C>G (p.Arg553=)
c.2293C>G
n.3343C>G
n.2627C>G
c.631C>G
c.151C>G
c.4947C>G (p.Arg1649=)
c.639C>G (p.Arg213=)
c.644C>G
c.1838C>G
c.4968C>G (p.Arg1656=)
c.4956C>G (p.Arg1652=)
c.4896C>G (p.Arg1632=)
c.4878C>G (p.Arg1626=)
c.4629C>G (p.Arg1543=)
c.4857C>G (p.Arg1619=)
c.4623C>G (p.Arg1541=)
c.2076C>G (p.Arg692=)
c.1680C>G (p.Arg560=)
c.2229C>G (p.Arg743=)
c.2208C>G (p.Arg736=)
1g.7752522C>TCA415826058CAMTA1c.1701C>T (p.Arg567=)
c.2040C>T (p.Arg680=)
c.4608C>T (p.Arg1536=)
c.2269C>T
c.*4480C>T (n.*4480C>T)
c.4539C>T (p.Arg1513=)
c.4536C>T (p.Arg1512=)
c.2793C>T (p.Arg931=)
c.1998C>T (p.Arg666=)
c.2019C>T (p.Arg673=)
n.1121C>T
c.1659C>T (p.Arg553=)
c.2293C>T
n.3343C>T
n.2627C>T
c.631C>T
c.151C>T
c.4947C>T (p.Arg1649=)
c.639C>T (p.Arg213=)
c.644C>T
c.1838C>T
c.4968C>T (p.Arg1656=)
c.4956C>T (p.Arg1652=)
c.4896C>T (p.Arg1632=)
c.4878C>T (p.Arg1626=)
c.4629C>T (p.Arg1543=)
c.4857C>T (p.Arg1619=)
c.4623C>T (p.Arg1541=)
c.2076C>T (p.Arg692=)
c.1680C>T (p.Arg560=)
c.2229C>T (p.Arg743=)
c.2208C>T (p.Arg736=)
 dbSNP
1g.7752523T>ACA338145543CAMTA1c.1702T>A (p.Cys568Ser)
c.2041T>A (p.Cys681Ser)
c.4609T>A (p.Cys1537Ser)
c.2270T>A
c.*4481T>A (n.*4481T>A)
c.4540T>A (p.Cys1514Ser)
c.4537T>A (p.Cys1513Ser)
c.2794T>A (p.Cys932Ser)
c.1999T>A (p.Cys667Ser)
c.2020T>A (p.Cys674Ser)
n.1122T>A
c.1660T>A (p.Cys554Ser)
c.2294T>A
n.3344T>A
n.2628T>A
c.632T>A
c.152T>A
c.4948T>A (p.Cys1650Ser)
c.640T>A (p.Cys214Ser)
c.645T>A
c.1839T>A
c.4969T>A (p.Cys1657Ser)
c.4957T>A (p.Cys1653Ser)
c.4897T>A (p.Cys1633Ser)
c.4879T>A (p.Cys1627Ser)
c.4630T>A (p.Cys1544Ser)
c.4858T>A (p.Cys1620Ser)
c.4624T>A (p.Cys1542Ser)
c.2077T>A (p.Cys693Ser)
c.1681T>A (p.Cys561Ser)
c.2230T>A (p.Cys744Ser)
c.2209T>A (p.Cys737Ser)
1g.7752523T>CCA338145546CAMTA1c.1702T>C (p.Cys568Arg)
c.2041T>C (p.Cys681Arg)
c.4609T>C (p.Cys1537Arg)
c.2270T>C
c.*4481T>C (n.*4481T>C)
c.4540T>C (p.Cys1514Arg)
c.4537T>C (p.Cys1513Arg)
c.2794T>C (p.Cys932Arg)
c.1999T>C (p.Cys667Arg)
c.2020T>C (p.Cys674Arg)
n.1122T>C
c.1660T>C (p.Cys554Arg)
c.2294T>C
n.3344T>C
n.2628T>C
c.632T>C
c.152T>C
c.4948T>C (p.Cys1650Arg)
c.640T>C (p.Cys214Arg)
c.645T>C
c.1839T>C
c.4969T>C (p.Cys1657Arg)
c.4957T>C (p.Cys1653Arg)
c.4897T>C (p.Cys1633Arg)
c.4879T>C (p.Cys1627Arg)
c.4630T>C (p.Cys1544Arg)
c.4858T>C (p.Cys1620Arg)
c.4624T>C (p.Cys1542Arg)
c.2077T>C (p.Cys693Arg)
c.1681T>C (p.Cys561Arg)
c.2230T>C (p.Cys744Arg)
c.2209T>C (p.Cys737Arg)
1g.7752523T>GCA338145547CAMTA1c.1702T>G (p.Cys568Gly)
c.2041T>G (p.Cys681Gly)
c.4609T>G (p.Cys1537Gly)
c.2270T>G
c.*4481T>G (n.*4481T>G)
c.4540T>G (p.Cys1514Gly)
c.4537T>G (p.Cys1513Gly)
c.2794T>G (p.Cys932Gly)
c.1999T>G (p.Cys667Gly)
c.2020T>G (p.Cys674Gly)
n.1122T>G
c.1660T>G (p.Cys554Gly)
c.2294T>G
n.3344T>G
n.2628T>G
c.632T>G
c.152T>G
c.4948T>G (p.Cys1650Gly)
c.640T>G (p.Cys214Gly)
c.645T>G
c.1839T>G
c.4969T>G (p.Cys1657Gly)
c.4957T>G (p.Cys1653Gly)
c.4897T>G (p.Cys1633Gly)
c.4879T>G (p.Cys1627Gly)
c.4630T>G (p.Cys1544Gly)
c.4858T>G (p.Cys1620Gly)
c.4624T>G (p.Cys1542Gly)
c.2077T>G (p.Cys693Gly)
c.1681T>G (p.Cys561Gly)
c.2230T>G (p.Cys744Gly)
c.2209T>G (p.Cys737Gly)
1g.7752524G>ACA338145551CAMTA1c.1703G>A (p.Cys568Tyr)
c.2042G>A (p.Cys681Tyr)
c.4610G>A (p.Cys1537Tyr)
c.2271G>A
c.*4482G>A (n.*4482G>A)
c.4541G>A (p.Cys1514Tyr)
c.4538G>A (p.Cys1513Tyr)
c.2795G>A (p.Cys932Tyr)
c.2000G>A (p.Cys667Tyr)
c.2021G>A (p.Cys674Tyr)
n.1123G>A
c.1661G>A (p.Cys554Tyr)
c.2295G>A
n.3345G>A
n.2629G>A
c.633G>A
c.153G>A
c.4949G>A (p.Cys1650Tyr)
c.641G>A (p.Cys214Tyr)
c.646G>A
c.1840G>A
c.4970G>A (p.Cys1657Tyr)
c.4958G>A (p.Cys1653Tyr)
c.4898G>A (p.Cys1633Tyr)
c.4880G>A (p.Cys1627Tyr)
c.4631G>A (p.Cys1544Tyr)
c.4859G>A (p.Cys1620Tyr)
c.4625G>A (p.Cys1542Tyr)
c.2078G>A (p.Cys693Tyr)
c.1682G>A (p.Cys561Tyr)
c.2231G>A (p.Cys744Tyr)
c.2210G>A (p.Cys737Tyr)
1g.7752524G>CCA338145553CAMTA1c.1703G>C (p.Cys568Ser)
c.2042G>C (p.Cys681Ser)
c.4610G>C (p.Cys1537Ser)
c.2271G>C
c.*4482G>C (n.*4482G>C)
c.4541G>C (p.Cys1514Ser)
c.4538G>C (p.Cys1513Ser)
c.2795G>C (p.Cys932Ser)
c.2000G>C (p.Cys667Ser)
c.2021G>C (p.Cys674Ser)
n.1123G>C
c.1661G>C (p.Cys554Ser)
c.2295G>C
n.3345G>C
n.2629G>C
c.633G>C
c.153G>C
c.4949G>C (p.Cys1650Ser)
c.641G>C (p.Cys214Ser)
c.646G>C
c.1840G>C
c.4970G>C (p.Cys1657Ser)
c.4958G>C (p.Cys1653Ser)
c.4898G>C (p.Cys1633Ser)
c.4880G>C (p.Cys1627Ser)
c.4631G>C (p.Cys1544Ser)
c.4859G>C (p.Cys1620Ser)
c.4625G>C (p.Cys1542Ser)
c.2078G>C (p.Cys693Ser)
c.1682G>C (p.Cys561Ser)
c.2231G>C (p.Cys744Ser)
c.2210G>C (p.Cys737Ser)
1g.7752524G>TCA338145554CAMTA1c.1703G>T (p.Cys568Phe)
c.2042G>T (p.Cys681Phe)
c.4610G>T (p.Cys1537Phe)
c.2271G>T
c.*4482G>T (n.*4482G>T)
c.4541G>T (p.Cys1514Phe)
c.4538G>T (p.Cys1513Phe)
c.2795G>T (p.Cys932Phe)
c.2000G>T (p.Cys667Phe)
c.2021G>T (p.Cys674Phe)
n.1123G>T
c.1661G>T (p.Cys554Phe)
c.2295G>T
n.3345G>T
n.2629G>T
c.633G>T
c.153G>T
c.4949G>T (p.Cys1650Phe)
c.641G>T (p.Cys214Phe)
c.646G>T
c.1840G>T
c.4970G>T (p.Cys1657Phe)
c.4958G>T (p.Cys1653Phe)
c.4898G>T (p.Cys1633Phe)
c.4880G>T (p.Cys1627Phe)
c.4631G>T (p.Cys1544Phe)
c.4859G>T (p.Cys1620Phe)
c.4625G>T (p.Cys1542Phe)
c.2078G>T (p.Cys693Phe)
c.1682G>T (p.Cys561Phe)
c.2231G>T (p.Cys744Phe)
c.2210G>T (p.Cys737Phe)
1g.7752525T>ACA338145558CAMTA1c.1704T>A (p.Cys568Ter)
c.2043T>A (p.Cys681Ter)
c.4611T>A (p.Cys1537Ter)
c.2272T>A
c.*4483T>A (n.*4483T>A)
c.4542T>A (p.Cys1514Ter)
c.4539T>A (p.Cys1513Ter)
c.2796T>A (p.Cys932Ter)
c.2001T>A (p.Cys667Ter)
c.2022T>A (p.Cys674Ter)
n.1124T>A
c.1662T>A (p.Cys554Ter)
c.2296T>A
n.3346T>A
n.2630T>A
c.634T>A
c.154T>A
c.4950T>A (p.Cys1650Ter)
c.642T>A (p.Cys214Ter)
c.647T>A
c.1841T>A
c.4971T>A (p.Cys1657Ter)
c.4959T>A (p.Cys1653Ter)
c.4899T>A (p.Cys1633Ter)
c.4881T>A (p.Cys1627Ter)
c.4632T>A (p.Cys1544Ter)
c.4860T>A (p.Cys1620Ter)
c.4626T>A (p.Cys1542Ter)
c.2079T>A (p.Cys693Ter)
c.1683T>A (p.Cys561Ter)
c.2232T>A (p.Cys744Ter)
c.2211T>A (p.Cys737Ter)
1g.7752525T>CCA415826062CAMTA1c.1704T>C (p.Cys568=)
c.2043T>C (p.Cys681=)
c.4611T>C (p.Cys1537=)
c.2272T>C
c.*4483T>C (n.*4483T>C)
c.4542T>C (p.Cys1514=)
c.4539T>C (p.Cys1513=)
c.2796T>C (p.Cys932=)
c.2001T>C (p.Cys667=)
c.2022T>C (p.Cys674=)
n.1124T>C
c.1662T>C (p.Cys554=)
c.2296T>C
n.3346T>C
n.2630T>C
c.634T>C
c.154T>C
c.4950T>C (p.Cys1650=)
c.642T>C (p.Cys214=)
c.647T>C
c.1841T>C
c.4971T>C (p.Cys1657=)
c.4959T>C (p.Cys1653=)
c.4899T>C (p.Cys1633=)
c.4881T>C (p.Cys1627=)
c.4632T>C (p.Cys1544=)
c.4860T>C (p.Cys1620=)
c.4626T>C (p.Cys1542=)
c.2079T>C (p.Cys693=)
c.1683T>C (p.Cys561=)
c.2232T>C (p.Cys744=)
c.2211T>C (p.Cys737=)
1g.7752525T>GCA338145561CAMTA1c.1704T>G (p.Cys568Trp)
c.2043T>G (p.Cys681Trp)
c.4611T>G (p.Cys1537Trp)
c.2272T>G
c.*4483T>G (n.*4483T>G)
c.4542T>G (p.Cys1514Trp)
c.4539T>G (p.Cys1513Trp)
c.2796T>G (p.Cys932Trp)
c.2001T>G (p.Cys667Trp)
c.2022T>G (p.Cys674Trp)
n.1124T>G
c.1662T>G (p.Cys554Trp)
c.2296T>G
n.3346T>G
n.2630T>G
c.634T>G
c.154T>G
c.4950T>G (p.Cys1650Trp)
c.642T>G (p.Cys214Trp)
c.647T>G
c.1841T>G
c.4971T>G (p.Cys1657Trp)
c.4959T>G (p.Cys1653Trp)
c.4899T>G (p.Cys1633Trp)
c.4881T>G (p.Cys1627Trp)
c.4632T>G (p.Cys1544Trp)
c.4860T>G (p.Cys1620Trp)
c.4626T>G (p.Cys1542Trp)
c.2079T>G (p.Cys693Trp)
c.1683T>G (p.Cys561Trp)
c.2232T>G (p.Cys744Trp)
c.2211T>G (p.Cys737Trp)

Number of alleles fetched