Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.88610857T>ACA390565760ZC3H14c.2121T>A (p.Cys707Ter)
c.*1329T>A (n.*1329T>A)
c.1650T>A (p.Cys550Ter)
c.831T>A (p.Cys277Ter)
c.1626T>A (p.Cys542Ter)
c.2046T>A (p.Cys682Ter)
c.759T>A (p.Cys253Ter)
n.964T>A
c.2103T>A (p.Cys701Ter)
c.366T>A (p.Cys122Ter)
n.280T>A
c.1227T>A (p.Cys409Ter)
c.1865T>A
c.1728T>A (p.Cys576Ter)
n.1406T>A
c.1173T>A (p.Cys391Ter)
c.2118T>A (p.Cys706Ter)
c.2106T>A (p.Cys702Ter)
c.1725T>A (p.Cys575Ter)
c.1653T>A (p.Cys551Ter)
c.1152T>A (p.Cys384Ter)
c.2019T>A (p.Cys673Ter)
c.1965T>A (p.Cys655Ter)
c.2043T>A (p.Cys681Ter)
c.2028T>A (p.Cys676Ter)
c.1656T>A (p.Cys552Ter)
c.1944T>A (p.Cys648Ter)
c.1548T>A (p.Cys516Ter)
c.1260T>A (p.Cys420Ter)
c.1581T>A (p.Cys527Ter)
c.1494T>A (p.Cys498Ter)
c.1263T>A (p.Cys421Ter)
c.1188T>A (p.Cys396Ter)
c.1185T>A (p.Cys395Ter)
c.2031T>A (p.Cys677Ter)
c.1497T>A (p.Cys499Ter)
c.1578T>A (p.Cys526Ter)
c.2016T>A (p.Cys672Ter)
n.2186T>A
c.1149T>A (p.Cys383Ter)
n.2058T>A
14g.88610857T>CCA487280415ZC3H14c.2121T>C (p.Cys707=)
c.*1329T>C (n.*1329T>C)
c.1650T>C (p.Cys550=)
c.831T>C (p.Cys277=)
c.1626T>C (p.Cys542=)
c.2046T>C (p.Cys682=)
c.759T>C (p.Cys253=)
n.964T>C
c.2103T>C (p.Cys701=)
c.366T>C (p.Cys122=)
n.280T>C
c.1227T>C (p.Cys409=)
c.1865T>C
c.1728T>C (p.Cys576=)
n.1406T>C
c.1173T>C (p.Cys391=)
c.2118T>C (p.Cys706=)
c.2106T>C (p.Cys702=)
c.1725T>C (p.Cys575=)
c.1653T>C (p.Cys551=)
c.1152T>C (p.Cys384=)
c.2019T>C (p.Cys673=)
c.1965T>C (p.Cys655=)
c.2043T>C (p.Cys681=)
c.2028T>C (p.Cys676=)
c.1656T>C (p.Cys552=)
c.1944T>C (p.Cys648=)
c.1548T>C (p.Cys516=)
c.1260T>C (p.Cys420=)
c.1581T>C (p.Cys527=)
c.1494T>C (p.Cys498=)
c.1263T>C (p.Cys421=)
c.1188T>C (p.Cys396=)
c.1185T>C (p.Cys395=)
c.2031T>C (p.Cys677=)
c.1497T>C (p.Cys499=)
c.1578T>C (p.Cys526=)
c.2016T>C (p.Cys672=)
n.2186T>C
c.1149T>C (p.Cys383=)
n.2058T>C
14g.88610857T>GCA390565764ZC3H14c.2121T>G (p.Cys707Trp)
c.*1329T>G (n.*1329T>G)
c.1650T>G (p.Cys550Trp)
c.831T>G (p.Cys277Trp)
c.1626T>G (p.Cys542Trp)
c.2046T>G (p.Cys682Trp)
c.759T>G (p.Cys253Trp)
n.964T>G
c.2103T>G (p.Cys701Trp)
c.366T>G (p.Cys122Trp)
n.280T>G
c.1227T>G (p.Cys409Trp)
c.1865T>G
c.1728T>G (p.Cys576Trp)
n.1406T>G
c.1173T>G (p.Cys391Trp)
c.2118T>G (p.Cys706Trp)
c.2106T>G (p.Cys702Trp)
c.1725T>G (p.Cys575Trp)
c.1653T>G (p.Cys551Trp)
c.1152T>G (p.Cys384Trp)
c.2019T>G (p.Cys673Trp)
c.1965T>G (p.Cys655Trp)
c.2043T>G (p.Cys681Trp)
c.2028T>G (p.Cys676Trp)
c.1656T>G (p.Cys552Trp)
c.1944T>G (p.Cys648Trp)
c.1548T>G (p.Cys516Trp)
c.1260T>G (p.Cys420Trp)
c.1581T>G (p.Cys527Trp)
c.1494T>G (p.Cys498Trp)
c.1263T>G (p.Cys421Trp)
c.1188T>G (p.Cys396Trp)
c.1185T>G (p.Cys395Trp)
c.2031T>G (p.Cys677Trp)
c.1497T>G (p.Cys499Trp)
c.1578T>G (p.Cys526Trp)
c.2016T>G (p.Cys672Trp)
n.2186T>G
c.1149T>G (p.Cys383Trp)
n.2058T>G
14g.88610858A>CCA390565768ZC3H14c.2122A>C (p.Thr708Pro)
c.*1330A>C (n.*1330A>C)
c.1651A>C (p.Thr551Pro)
c.832A>C (p.Thr278Pro)
c.1627A>C (p.Thr543Pro)
c.2047A>C (p.Thr683Pro)
c.760A>C (p.Thr254Pro)
n.965A>C
c.2104A>C (p.Thr702Pro)
c.367A>C (p.Thr123Pro)
n.281A>C
c.1228A>C (p.Thr410Pro)
c.1866A>C
c.1729A>C (p.Thr577Pro)
n.1407A>C
c.1174A>C (p.Thr392Pro)
c.2119A>C (p.Thr707Pro)
c.2107A>C (p.Thr703Pro)
c.1726A>C (p.Thr576Pro)
c.1654A>C (p.Thr552Pro)
c.1153A>C (p.Thr385Pro)
c.2020A>C (p.Thr674Pro)
c.1966A>C (p.Thr656Pro)
c.2044A>C (p.Thr682Pro)
c.2029A>C (p.Thr677Pro)
c.1657A>C (p.Thr553Pro)
c.1945A>C (p.Thr649Pro)
c.1549A>C (p.Thr517Pro)
c.1261A>C (p.Thr421Pro)
c.1582A>C (p.Thr528Pro)
c.1495A>C (p.Thr499Pro)
c.1264A>C (p.Thr422Pro)
c.1189A>C (p.Thr397Pro)
c.1186A>C (p.Thr396Pro)
c.2032A>C (p.Thr678Pro)
c.1498A>C (p.Thr500Pro)
c.1579A>C (p.Thr527Pro)
c.2017A>C (p.Thr673Pro)
n.2187A>C
c.1150A>C (p.Thr384Pro)
n.2059A>C
14g.88610858A>GCA390565788ZC3H14c.2122A>G (p.Thr708Ala)
c.*1330A>G (n.*1330A>G)
c.1651A>G (p.Thr551Ala)
c.832A>G (p.Thr278Ala)
c.1627A>G (p.Thr543Ala)
c.2047A>G (p.Thr683Ala)
c.760A>G (p.Thr254Ala)
n.965A>G
c.2104A>G (p.Thr702Ala)
c.367A>G (p.Thr123Ala)
n.281A>G
c.1228A>G (p.Thr410Ala)
c.1866A>G
c.1729A>G (p.Thr577Ala)
n.1407A>G
c.1174A>G (p.Thr392Ala)
c.2119A>G (p.Thr707Ala)
c.2107A>G (p.Thr703Ala)
c.1726A>G (p.Thr576Ala)
c.1654A>G (p.Thr552Ala)
c.1153A>G (p.Thr385Ala)
c.2020A>G (p.Thr674Ala)
c.1966A>G (p.Thr656Ala)
c.2044A>G (p.Thr682Ala)
c.2029A>G (p.Thr677Ala)
c.1657A>G (p.Thr553Ala)
c.1945A>G (p.Thr649Ala)
c.1549A>G (p.Thr517Ala)
c.1261A>G (p.Thr421Ala)
c.1582A>G (p.Thr528Ala)
c.1495A>G (p.Thr499Ala)
c.1264A>G (p.Thr422Ala)
c.1189A>G (p.Thr397Ala)
c.1186A>G (p.Thr396Ala)
c.2032A>G (p.Thr678Ala)
c.1498A>G (p.Thr500Ala)
c.1579A>G (p.Thr527Ala)
c.2017A>G (p.Thr673Ala)
n.2187A>G
c.1150A>G (p.Thr384Ala)
n.2059A>G
 gnomAD v4
14g.88610858A>TCA390565791ZC3H14c.2122A>T (p.Thr708Ser)
c.*1330A>T (n.*1330A>T)
c.1651A>T (p.Thr551Ser)
c.832A>T (p.Thr278Ser)
c.1627A>T (p.Thr543Ser)
c.2047A>T (p.Thr683Ser)
c.760A>T (p.Thr254Ser)
n.965A>T
c.2104A>T (p.Thr702Ser)
c.367A>T (p.Thr123Ser)
n.281A>T
c.1228A>T (p.Thr410Ser)
c.1866A>T
c.1729A>T (p.Thr577Ser)
n.1407A>T
c.1174A>T (p.Thr392Ser)
c.2119A>T (p.Thr707Ser)
c.2107A>T (p.Thr703Ser)
c.1726A>T (p.Thr576Ser)
c.1654A>T (p.Thr552Ser)
c.1153A>T (p.Thr385Ser)
c.2020A>T (p.Thr674Ser)
c.1966A>T (p.Thr656Ser)
c.2044A>T (p.Thr682Ser)
c.2029A>T (p.Thr677Ser)
c.1657A>T (p.Thr553Ser)
c.1945A>T (p.Thr649Ser)
c.1549A>T (p.Thr517Ser)
c.1261A>T (p.Thr421Ser)
c.1582A>T (p.Thr528Ser)
c.1495A>T (p.Thr499Ser)
c.1264A>T (p.Thr422Ser)
c.1189A>T (p.Thr397Ser)
c.1186A>T (p.Thr396Ser)
c.2032A>T (p.Thr678Ser)
c.1498A>T (p.Thr500Ser)
c.1579A>T (p.Thr527Ser)
c.2017A>T (p.Thr673Ser)
n.2187A>T
c.1150A>T (p.Thr384Ser)
n.2059A>T
14g.88610859C>ACA390565793ZC3H14c.2123C>A (p.Thr708Lys)
c.*1331C>A (n.*1331C>A)
c.1652C>A (p.Thr551Lys)
c.833C>A (p.Thr278Lys)
c.1628C>A (p.Thr543Lys)
c.2048C>A (p.Thr683Lys)
c.761C>A (p.Thr254Lys)
n.966C>A
c.2105C>A (p.Thr702Lys)
c.368C>A (p.Thr123Lys)
n.282C>A
c.1229C>A (p.Thr410Lys)
c.1867C>A
c.1730C>A (p.Thr577Lys)
n.1408C>A
c.1175C>A (p.Thr392Lys)
c.2120C>A (p.Thr707Lys)
c.2108C>A (p.Thr703Lys)
c.1727C>A (p.Thr576Lys)
c.1655C>A (p.Thr552Lys)
c.1154C>A (p.Thr385Lys)
c.2021C>A (p.Thr674Lys)
c.1967C>A (p.Thr656Lys)
c.2045C>A (p.Thr682Lys)
c.2030C>A (p.Thr677Lys)
c.1658C>A (p.Thr553Lys)
c.1946C>A (p.Thr649Lys)
c.1550C>A (p.Thr517Lys)
c.1262C>A (p.Thr421Lys)
c.1583C>A (p.Thr528Lys)
c.1496C>A (p.Thr499Lys)
c.1265C>A (p.Thr422Lys)
c.1190C>A (p.Thr397Lys)
c.1187C>A (p.Thr396Lys)
c.2033C>A (p.Thr678Lys)
c.1499C>A (p.Thr500Lys)
c.1580C>A (p.Thr527Lys)
c.2018C>A (p.Thr673Lys)
n.2188C>A
c.1151C>A (p.Thr384Lys)
n.2060C>A
14g.88610859C=CA2153694396ZC3H14c.2123C= (p.Thr708=)
c.*1331C= (n.*1331C=)
c.1652C= (p.Thr551=)
c.833C= (p.Thr278=)
c.1628C= (p.Thr543=)
c.2048C= (p.Thr683=)
c.761C= (p.Thr254=)
n.966C=
c.2105C= (p.Thr702=)
c.368C= (p.Thr123=)
n.282C=
c.1229C= (p.Thr410=)
c.1867C=
c.1730C= (p.Thr577=)
n.1408C=
c.1175C= (p.Thr392=)
c.2120C= (p.Thr707=)
c.2108C= (p.Thr703=)
c.1727C= (p.Thr576=)
c.1655C= (p.Thr552=)
c.1154C= (p.Thr385=)
c.2021C= (p.Thr674=)
c.1967C= (p.Thr656=)
c.2045C= (p.Thr682=)
c.2030C= (p.Thr677=)
c.1658C= (p.Thr553=)
c.1946C= (p.Thr649=)
c.1550C= (p.Thr517=)
c.1262C= (p.Thr421=)
c.1583C= (p.Thr528=)
c.1496C= (p.Thr499=)
c.1265C= (p.Thr422=)
c.1190C= (p.Thr397=)
c.1187C= (p.Thr396=)
c.2033C= (p.Thr678=)
c.1499C= (p.Thr500=)
c.1580C= (p.Thr527=)
c.2018C= (p.Thr673=)
n.2188C=
c.1151C= (p.Thr384=)
n.2060C=
14g.88610859C>GCA390565795ZC3H14c.2123C>G (p.Thr708Arg)
c.*1331C>G (n.*1331C>G)
c.1652C>G (p.Thr551Arg)
c.833C>G (p.Thr278Arg)
c.1628C>G (p.Thr543Arg)
c.2048C>G (p.Thr683Arg)
c.761C>G (p.Thr254Arg)
n.966C>G
c.2105C>G (p.Thr702Arg)
c.368C>G (p.Thr123Arg)
n.282C>G
c.1229C>G (p.Thr410Arg)
c.1867C>G
c.1730C>G (p.Thr577Arg)
n.1408C>G
c.1175C>G (p.Thr392Arg)
c.2120C>G (p.Thr707Arg)
c.2108C>G (p.Thr703Arg)
c.1727C>G (p.Thr576Arg)
c.1655C>G (p.Thr552Arg)
c.1154C>G (p.Thr385Arg)
c.2021C>G (p.Thr674Arg)
c.1967C>G (p.Thr656Arg)
c.2045C>G (p.Thr682Arg)
c.2030C>G (p.Thr677Arg)
c.1658C>G (p.Thr553Arg)
c.1946C>G (p.Thr649Arg)
c.1550C>G (p.Thr517Arg)
c.1262C>G (p.Thr421Arg)
c.1583C>G (p.Thr528Arg)
c.1496C>G (p.Thr499Arg)
c.1265C>G (p.Thr422Arg)
c.1190C>G (p.Thr397Arg)
c.1187C>G (p.Thr396Arg)
c.2033C>G (p.Thr678Arg)
c.1499C>G (p.Thr500Arg)
c.1580C>G (p.Thr527Arg)
c.2018C>G (p.Thr673Arg)
n.2188C>G
c.1151C>G (p.Thr384Arg)
n.2060C>G
14g.88610859C>TCA7300780ZC3H14c.2123C>T (p.Thr708Ile)
c.*1331C>T (n.*1331C>T)
c.1652C>T (p.Thr551Ile)
c.833C>T (p.Thr278Ile)
c.1628C>T (p.Thr543Ile)
c.2048C>T (p.Thr683Ile)
c.761C>T (p.Thr254Ile)
n.966C>T
c.2105C>T (p.Thr702Ile)
c.368C>T (p.Thr123Ile)
n.282C>T
c.1229C>T (p.Thr410Ile)
c.1867C>T
c.1730C>T (p.Thr577Ile)
n.1408C>T
c.1175C>T (p.Thr392Ile)
c.2120C>T (p.Thr707Ile)
c.2108C>T (p.Thr703Ile)
c.1727C>T (p.Thr576Ile)
c.1655C>T (p.Thr552Ile)
c.1154C>T (p.Thr385Ile)
c.2021C>T (p.Thr674Ile)
c.1967C>T (p.Thr656Ile)
c.2045C>T (p.Thr682Ile)
c.2030C>T (p.Thr677Ile)
c.1658C>T (p.Thr553Ile)
c.1946C>T (p.Thr649Ile)
c.1550C>T (p.Thr517Ile)
c.1262C>T (p.Thr421Ile)
c.1583C>T (p.Thr528Ile)
c.1496C>T (p.Thr499Ile)
c.1265C>T (p.Thr422Ile)
c.1190C>T (p.Thr397Ile)
c.1187C>T (p.Thr396Ile)
c.2033C>T (p.Thr678Ile)
c.1499C>T (p.Thr500Ile)
c.1580C>T (p.Thr527Ile)
c.2018C>T (p.Thr673Ile)
n.2188C>T
c.1151C>T (p.Thr384Ile)
n.2060C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.88610860A=CA2153694397ZC3H14c.2124A= (p.Thr708=)
c.*1332A= (n.*1332A=)
c.1653A= (p.Thr551=)
c.834A= (p.Thr278=)
c.1629A= (p.Thr543=)
c.2049A= (p.Thr683=)
c.762A= (p.Thr254=)
n.967A=
c.2106A= (p.Thr702=)
c.369A= (p.Thr123=)
n.283A=
c.1230A= (p.Thr410=)
c.1868A=
c.1731A= (p.Thr577=)
n.1409A=
c.1176A= (p.Thr392=)
c.2121A= (p.Thr707=)
c.2109A= (p.Thr703=)
c.1728A= (p.Thr576=)
c.1656A= (p.Thr552=)
c.1155A= (p.Thr385=)
c.2022A= (p.Thr674=)
c.1968A= (p.Thr656=)
c.2046A= (p.Thr682=)
c.2031A= (p.Thr677=)
c.1659A= (p.Thr553=)
c.1947A= (p.Thr649=)
c.1551A= (p.Thr517=)
c.1263A= (p.Thr421=)
c.1584A= (p.Thr528=)
c.1497A= (p.Thr499=)
c.1266A= (p.Thr422=)
c.1191A= (p.Thr397=)
c.1188A= (p.Thr396=)
c.2034A= (p.Thr678=)
c.1500A= (p.Thr500=)
c.1581A= (p.Thr527=)
c.2019A= (p.Thr673=)
n.2189A=
c.1152A= (p.Thr384=)
n.2061A=
14g.88610860A>CCA487280416ZC3H14c.2124A>C (p.Thr708=)
c.*1332A>C (n.*1332A>C)
c.1653A>C (p.Thr551=)
c.834A>C (p.Thr278=)
c.1629A>C (p.Thr543=)
c.2049A>C (p.Thr683=)
c.762A>C (p.Thr254=)
n.967A>C
c.2106A>C (p.Thr702=)
c.369A>C (p.Thr123=)
n.283A>C
c.1230A>C (p.Thr410=)
c.1868A>C
c.1731A>C (p.Thr577=)
n.1409A>C
c.1176A>C (p.Thr392=)
c.2121A>C (p.Thr707=)
c.2109A>C (p.Thr703=)
c.1728A>C (p.Thr576=)
c.1656A>C (p.Thr552=)
c.1155A>C (p.Thr385=)
c.2022A>C (p.Thr674=)
c.1968A>C (p.Thr656=)
c.2046A>C (p.Thr682=)
c.2031A>C (p.Thr677=)
c.1659A>C (p.Thr553=)
c.1947A>C (p.Thr649=)
c.1551A>C (p.Thr517=)
c.1263A>C (p.Thr421=)
c.1584A>C (p.Thr528=)
c.1497A>C (p.Thr499=)
c.1266A>C (p.Thr422=)
c.1191A>C (p.Thr397=)
c.1188A>C (p.Thr396=)
c.2034A>C (p.Thr678=)
c.1500A>C (p.Thr500=)
c.1581A>C (p.Thr527=)
c.2019A>C (p.Thr673=)
n.2189A>C
c.1152A>C (p.Thr384=)
n.2061A>C
14g.88610860A>GCA487280417ZC3H14c.2124A>G (p.Thr708=)
c.*1332A>G (n.*1332A>G)
c.1653A>G (p.Thr551=)
c.834A>G (p.Thr278=)
c.1629A>G (p.Thr543=)
c.2049A>G (p.Thr683=)
c.762A>G (p.Thr254=)
n.967A>G
c.2106A>G (p.Thr702=)
c.369A>G (p.Thr123=)
n.283A>G
c.1230A>G (p.Thr410=)
c.1868A>G
c.1731A>G (p.Thr577=)
n.1409A>G
c.1176A>G (p.Thr392=)
c.2121A>G (p.Thr707=)
c.2109A>G (p.Thr703=)
c.1728A>G (p.Thr576=)
c.1656A>G (p.Thr552=)
c.1155A>G (p.Thr385=)
c.2022A>G (p.Thr674=)
c.1968A>G (p.Thr656=)
c.2046A>G (p.Thr682=)
c.2031A>G (p.Thr677=)
c.1659A>G (p.Thr553=)
c.1947A>G (p.Thr649=)
c.1551A>G (p.Thr517=)
c.1263A>G (p.Thr421=)
c.1584A>G (p.Thr528=)
c.1497A>G (p.Thr499=)
c.1266A>G (p.Thr422=)
c.1191A>G (p.Thr397=)
c.1188A>G (p.Thr396=)
c.2034A>G (p.Thr678=)
c.1500A>G (p.Thr500=)
c.1581A>G (p.Thr527=)
c.2019A>G (p.Thr673=)
n.2189A>G
c.1152A>G (p.Thr384=)
n.2061A>G
 dbSNP gnomAD v4
14g.88610860A>TCA487280418ZC3H14c.2124A>T (p.Thr708=)
c.*1332A>T (n.*1332A>T)
c.1653A>T (p.Thr551=)
c.834A>T (p.Thr278=)
c.1629A>T (p.Thr543=)
c.2049A>T (p.Thr683=)
c.762A>T (p.Thr254=)
n.967A>T
c.2106A>T (p.Thr702=)
c.369A>T (p.Thr123=)
n.283A>T
c.1230A>T (p.Thr410=)
c.1868A>T
c.1731A>T (p.Thr577=)
n.1409A>T
c.1176A>T (p.Thr392=)
c.2121A>T (p.Thr707=)
c.2109A>T (p.Thr703=)
c.1728A>T (p.Thr576=)
c.1656A>T (p.Thr552=)
c.1155A>T (p.Thr385=)
c.2022A>T (p.Thr674=)
c.1968A>T (p.Thr656=)
c.2046A>T (p.Thr682=)
c.2031A>T (p.Thr677=)
c.1659A>T (p.Thr553=)
c.1947A>T (p.Thr649=)
c.1551A>T (p.Thr517=)
c.1263A>T (p.Thr421=)
c.1584A>T (p.Thr528=)
c.1497A>T (p.Thr499=)
c.1266A>T (p.Thr422=)
c.1191A>T (p.Thr397=)
c.1188A>T (p.Thr396=)
c.2034A>T (p.Thr678=)
c.1500A>T (p.Thr500=)
c.1581A>T (p.Thr527=)
c.2019A>T (p.Thr673=)
n.2189A>T
c.1152A>T (p.Thr384=)
n.2061A>T
14g.88610861A>CCA487280419ZC3H14c.2125A>C (p.Arg709=)
c.*1333A>C (n.*1333A>C)
c.1654A>C (p.Arg552=)
c.835A>C (p.Arg279=)
c.1630A>C (p.Arg544=)
c.2050A>C (p.Arg684=)
c.763A>C (p.Arg255=)
n.968A>C
c.2107A>C (p.Arg703=)
c.370A>C (p.Arg124=)
n.284A>C
c.1231A>C (p.Arg411=)
c.1869A>C
c.1732A>C (p.Arg578=)
n.1410A>C
c.1177A>C (p.Arg393=)
c.2122A>C (p.Arg708=)
c.2110A>C (p.Arg704=)
c.1729A>C (p.Arg577=)
c.1657A>C (p.Arg553=)
c.1156A>C (p.Arg386=)
c.2023A>C (p.Arg675=)
c.1969A>C (p.Arg657=)
c.2047A>C (p.Arg683=)
c.2032A>C (p.Arg678=)
c.1660A>C (p.Arg554=)
c.1948A>C (p.Arg650=)
c.1552A>C (p.Arg518=)
c.1264A>C (p.Arg422=)
c.1585A>C (p.Arg529=)
c.1498A>C (p.Arg500=)
c.1267A>C (p.Arg423=)
c.1192A>C (p.Arg398=)
c.1189A>C (p.Arg397=)
c.2035A>C (p.Arg679=)
c.1501A>C (p.Arg501=)
c.1582A>C (p.Arg528=)
c.2020A>C (p.Arg674=)
n.2190A>C
c.1153A>C (p.Arg385=)
n.2062A>C
14g.88610861A>GCA390565798ZC3H14c.2125A>G (p.Arg709Gly)
c.*1333A>G (n.*1333A>G)
c.1654A>G (p.Arg552Gly)
c.835A>G (p.Arg279Gly)
c.1630A>G (p.Arg544Gly)
c.2050A>G (p.Arg684Gly)
c.763A>G (p.Arg255Gly)
n.968A>G
c.2107A>G (p.Arg703Gly)
c.370A>G (p.Arg124Gly)
n.284A>G
c.1231A>G (p.Arg411Gly)
c.1869A>G
c.1732A>G (p.Arg578Gly)
n.1410A>G
c.1177A>G (p.Arg393Gly)
c.2122A>G (p.Arg708Gly)
c.2110A>G (p.Arg704Gly)
c.1729A>G (p.Arg577Gly)
c.1657A>G (p.Arg553Gly)
c.1156A>G (p.Arg386Gly)
c.2023A>G (p.Arg675Gly)
c.1969A>G (p.Arg657Gly)
c.2047A>G (p.Arg683Gly)
c.2032A>G (p.Arg678Gly)
c.1660A>G (p.Arg554Gly)
c.1948A>G (p.Arg650Gly)
c.1552A>G (p.Arg518Gly)
c.1264A>G (p.Arg422Gly)
c.1585A>G (p.Arg529Gly)
c.1498A>G (p.Arg500Gly)
c.1267A>G (p.Arg423Gly)
c.1192A>G (p.Arg398Gly)
c.1189A>G (p.Arg397Gly)
c.2035A>G (p.Arg679Gly)
c.1501A>G (p.Arg501Gly)
c.1582A>G (p.Arg528Gly)
c.2020A>G (p.Arg674Gly)
n.2190A>G
c.1153A>G (p.Arg385Gly)
n.2062A>G
 COSMIC COSMIC
14g.88610861A>TCA390565802ZC3H14c.2125A>T (p.Arg709Ter)
c.*1333A>T (n.*1333A>T)
c.1654A>T (p.Arg552Ter)
c.835A>T (p.Arg279Ter)
c.1630A>T (p.Arg544Ter)
c.2050A>T (p.Arg684Ter)
c.763A>T (p.Arg255Ter)
n.968A>T
c.2107A>T (p.Arg703Ter)
c.370A>T (p.Arg124Ter)
n.284A>T
c.1231A>T (p.Arg411Ter)
c.1869A>T
c.1732A>T (p.Arg578Ter)
n.1410A>T
c.1177A>T (p.Arg393Ter)
c.2122A>T (p.Arg708Ter)
c.2110A>T (p.Arg704Ter)
c.1729A>T (p.Arg577Ter)
c.1657A>T (p.Arg553Ter)
c.1156A>T (p.Arg386Ter)
c.2023A>T (p.Arg675Ter)
c.1969A>T (p.Arg657Ter)
c.2047A>T (p.Arg683Ter)
c.2032A>T (p.Arg678Ter)
c.1660A>T (p.Arg554Ter)
c.1948A>T (p.Arg650Ter)
c.1552A>T (p.Arg518Ter)
c.1264A>T (p.Arg422Ter)
c.1585A>T (p.Arg529Ter)
c.1498A>T (p.Arg500Ter)
c.1267A>T (p.Arg423Ter)
c.1192A>T (p.Arg398Ter)
c.1189A>T (p.Arg397Ter)
c.2035A>T (p.Arg679Ter)
c.1501A>T (p.Arg501Ter)
c.1582A>T (p.Arg528Ter)
c.2020A>T (p.Arg674Ter)
n.2190A>T
c.1153A>T (p.Arg385Ter)
n.2062A>T
14g.88610862G>ACA390565806ZC3H14c.2126G>A (p.Arg709Lys)
c.*1334G>A (n.*1334G>A)
c.1655G>A (p.Arg552Lys)
c.836G>A (p.Arg279Lys)
c.1631G>A (p.Arg544Lys)
c.2051G>A (p.Arg684Lys)
c.764G>A (p.Arg255Lys)
n.969G>A
c.2108G>A (p.Arg703Lys)
c.371G>A (p.Arg124Lys)
n.285G>A
c.1232G>A (p.Arg411Lys)
c.1870G>A
c.1733G>A (p.Arg578Lys)
n.1411G>A
c.1178G>A (p.Arg393Lys)
c.2123G>A (p.Arg708Lys)
c.2111G>A (p.Arg704Lys)
c.1730G>A (p.Arg577Lys)
c.1658G>A (p.Arg553Lys)
c.1157G>A (p.Arg386Lys)
c.2024G>A (p.Arg675Lys)
c.1970G>A (p.Arg657Lys)
c.2048G>A (p.Arg683Lys)
c.2033G>A (p.Arg678Lys)
c.1661G>A (p.Arg554Lys)
c.1949G>A (p.Arg650Lys)
c.1553G>A (p.Arg518Lys)
c.1265G>A (p.Arg422Lys)
c.1586G>A (p.Arg529Lys)
c.1499G>A (p.Arg500Lys)
c.1268G>A (p.Arg423Lys)
c.1193G>A (p.Arg398Lys)
c.1190G>A (p.Arg397Lys)
c.2036G>A (p.Arg679Lys)
c.1502G>A (p.Arg501Lys)
c.1583G>A (p.Arg528Lys)
c.2021G>A (p.Arg674Lys)
n.2191G>A
c.1154G>A (p.Arg385Lys)
n.2063G>A
14g.88610862G>CCA390565809ZC3H14c.2126G>C (p.Arg709Thr)
c.*1334G>C (n.*1334G>C)
c.1655G>C (p.Arg552Thr)
c.836G>C (p.Arg279Thr)
c.1631G>C (p.Arg544Thr)
c.2051G>C (p.Arg684Thr)
c.764G>C (p.Arg255Thr)
n.969G>C
c.2108G>C (p.Arg703Thr)
c.371G>C (p.Arg124Thr)
n.285G>C
c.1232G>C (p.Arg411Thr)
c.1870G>C
c.1733G>C (p.Arg578Thr)
n.1411G>C
c.1178G>C (p.Arg393Thr)
c.2123G>C (p.Arg708Thr)
c.2111G>C (p.Arg704Thr)
c.1730G>C (p.Arg577Thr)
c.1658G>C (p.Arg553Thr)
c.1157G>C (p.Arg386Thr)
c.2024G>C (p.Arg675Thr)
c.1970G>C (p.Arg657Thr)
c.2048G>C (p.Arg683Thr)
c.2033G>C (p.Arg678Thr)
c.1661G>C (p.Arg554Thr)
c.1949G>C (p.Arg650Thr)
c.1553G>C (p.Arg518Thr)
c.1265G>C (p.Arg422Thr)
c.1586G>C (p.Arg529Thr)
c.1499G>C (p.Arg500Thr)
c.1268G>C (p.Arg423Thr)
c.1193G>C (p.Arg398Thr)
c.1190G>C (p.Arg397Thr)
c.2036G>C (p.Arg679Thr)
c.1502G>C (p.Arg501Thr)
c.1583G>C (p.Arg528Thr)
c.2021G>C (p.Arg674Thr)
n.2191G>C
c.1154G>C (p.Arg385Thr)
n.2063G>C
14g.88610862G>TCA390565811ZC3H14c.2126G>T (p.Arg709Ile)
c.*1334G>T (n.*1334G>T)
c.1655G>T (p.Arg552Ile)
c.836G>T (p.Arg279Ile)
c.1631G>T (p.Arg544Ile)
c.2051G>T (p.Arg684Ile)
c.764G>T (p.Arg255Ile)
n.969G>T
c.2108G>T (p.Arg703Ile)
c.371G>T (p.Arg124Ile)
n.285G>T
c.1232G>T (p.Arg411Ile)
c.1870G>T
c.1733G>T (p.Arg578Ile)
n.1411G>T
c.1178G>T (p.Arg393Ile)
c.2123G>T (p.Arg708Ile)
c.2111G>T (p.Arg704Ile)
c.1730G>T (p.Arg577Ile)
c.1658G>T (p.Arg553Ile)
c.1157G>T (p.Arg386Ile)
c.2024G>T (p.Arg675Ile)
c.1970G>T (p.Arg657Ile)
c.2048G>T (p.Arg683Ile)
c.2033G>T (p.Arg678Ile)
c.1661G>T (p.Arg554Ile)
c.1949G>T (p.Arg650Ile)
c.1553G>T (p.Arg518Ile)
c.1265G>T (p.Arg422Ile)
c.1586G>T (p.Arg529Ile)
c.1499G>T (p.Arg500Ile)
c.1268G>T (p.Arg423Ile)
c.1193G>T (p.Arg398Ile)
c.1190G>T (p.Arg397Ile)
c.2036G>T (p.Arg679Ile)
c.1502G>T (p.Arg501Ile)
c.1583G>T (p.Arg528Ile)
c.2021G>T (p.Arg674Ile)
n.2191G>T
c.1154G>T (p.Arg385Ile)
n.2063G>T
14g.88610863A=CA2153694398ZC3H14c.2127A= (p.Arg709=)
c.*1335A= (n.*1335A=)
c.1656A= (p.Arg552=)
c.837A= (p.Arg279=)
c.1632A= (p.Arg544=)
c.2052A= (p.Arg684=)
c.765A= (p.Arg255=)
n.970A=
c.2109A= (p.Arg703=)
c.372A= (p.Arg124=)
n.286A=
c.1233A= (p.Arg411=)
c.1871A=
c.1734A= (p.Arg578=)
n.1412A=
c.1179A= (p.Arg393=)
c.2124A= (p.Arg708=)
c.2112A= (p.Arg704=)
c.1731A= (p.Arg577=)
c.1659A= (p.Arg553=)
c.1158A= (p.Arg386=)
c.2025A= (p.Arg675=)
c.1971A= (p.Arg657=)
c.2049A= (p.Arg683=)
c.2034A= (p.Arg678=)
c.1662A= (p.Arg554=)
c.1950A= (p.Arg650=)
c.1554A= (p.Arg518=)
c.1266A= (p.Arg422=)
c.1587A= (p.Arg529=)
c.1500A= (p.Arg500=)
c.1269A= (p.Arg423=)
c.1194A= (p.Arg398=)
c.1191A= (p.Arg397=)
c.2037A= (p.Arg679=)
c.1503A= (p.Arg501=)
c.1584A= (p.Arg528=)
c.2022A= (p.Arg674=)
n.2192A=
c.1155A= (p.Arg385=)
n.2064A=
14g.88610863A>CCA7300781ZC3H14c.2127A>C (p.Arg709Ser)
c.*1335A>C (n.*1335A>C)
c.1656A>C (p.Arg552Ser)
c.837A>C (p.Arg279Ser)
c.1632A>C (p.Arg544Ser)
c.2052A>C (p.Arg684Ser)
c.765A>C (p.Arg255Ser)
n.970A>C
c.2109A>C (p.Arg703Ser)
c.372A>C (p.Arg124Ser)
n.286A>C
c.1233A>C (p.Arg411Ser)
c.1871A>C
c.1734A>C (p.Arg578Ser)
n.1412A>C
c.1179A>C (p.Arg393Ser)
c.2124A>C (p.Arg708Ser)
c.2112A>C (p.Arg704Ser)
c.1731A>C (p.Arg577Ser)
c.1659A>C (p.Arg553Ser)
c.1158A>C (p.Arg386Ser)
c.2025A>C (p.Arg675Ser)
c.1971A>C (p.Arg657Ser)
c.2049A>C (p.Arg683Ser)
c.2034A>C (p.Arg678Ser)
c.1662A>C (p.Arg554Ser)
c.1950A>C (p.Arg650Ser)
c.1554A>C (p.Arg518Ser)
c.1266A>C (p.Arg422Ser)
c.1587A>C (p.Arg529Ser)
c.1500A>C (p.Arg500Ser)
c.1269A>C (p.Arg423Ser)
c.1194A>C (p.Arg398Ser)
c.1191A>C (p.Arg397Ser)
c.2037A>C (p.Arg679Ser)
c.1503A>C (p.Arg501Ser)
c.1584A>C (p.Arg528Ser)
c.2022A>C (p.Arg674Ser)
n.2192A>C
c.1155A>C (p.Arg385Ser)
n.2064A>C
 dbSNP ExAC gnomAD v2
14g.88610863A>GCA487280420ZC3H14c.2127A>G (p.Arg709=)
c.*1335A>G (n.*1335A>G)
c.1656A>G (p.Arg552=)
c.837A>G (p.Arg279=)
c.1632A>G (p.Arg544=)
c.2052A>G (p.Arg684=)
c.765A>G (p.Arg255=)
n.970A>G
c.2109A>G (p.Arg703=)
c.372A>G (p.Arg124=)
n.286A>G
c.1233A>G (p.Arg411=)
c.1871A>G
c.1734A>G (p.Arg578=)
n.1412A>G
c.1179A>G (p.Arg393=)
c.2124A>G (p.Arg708=)
c.2112A>G (p.Arg704=)
c.1731A>G (p.Arg577=)
c.1659A>G (p.Arg553=)
c.1158A>G (p.Arg386=)
c.2025A>G (p.Arg675=)
c.1971A>G (p.Arg657=)
c.2049A>G (p.Arg683=)
c.2034A>G (p.Arg678=)
c.1662A>G (p.Arg554=)
c.1950A>G (p.Arg650=)
c.1554A>G (p.Arg518=)
c.1266A>G (p.Arg422=)
c.1587A>G (p.Arg529=)
c.1500A>G (p.Arg500=)
c.1269A>G (p.Arg423=)
c.1194A>G (p.Arg398=)
c.1191A>G (p.Arg397=)
c.2037A>G (p.Arg679=)
c.1503A>G (p.Arg501=)
c.1584A>G (p.Arg528=)
c.2022A>G (p.Arg674=)
n.2192A>G
c.1155A>G (p.Arg385=)
n.2064A>G
14g.88610863A>TCA390565814ZC3H14c.2127A>T (p.Arg709Ser)
c.*1335A>T (n.*1335A>T)
c.1656A>T (p.Arg552Ser)
c.837A>T (p.Arg279Ser)
c.1632A>T (p.Arg544Ser)
c.2052A>T (p.Arg684Ser)
c.765A>T (p.Arg255Ser)
n.970A>T
c.2109A>T (p.Arg703Ser)
c.372A>T (p.Arg124Ser)
n.286A>T
c.1233A>T (p.Arg411Ser)
c.1871A>T
c.1734A>T (p.Arg578Ser)
n.1412A>T
c.1179A>T (p.Arg393Ser)
c.2124A>T (p.Arg708Ser)
c.2112A>T (p.Arg704Ser)
c.1731A>T (p.Arg577Ser)
c.1659A>T (p.Arg553Ser)
c.1158A>T (p.Arg386Ser)
c.2025A>T (p.Arg675Ser)
c.1971A>T (p.Arg657Ser)
c.2049A>T (p.Arg683Ser)
c.2034A>T (p.Arg678Ser)
c.1662A>T (p.Arg554Ser)
c.1950A>T (p.Arg650Ser)
c.1554A>T (p.Arg518Ser)
c.1266A>T (p.Arg422Ser)
c.1587A>T (p.Arg529Ser)
c.1500A>T (p.Arg500Ser)
c.1269A>T (p.Arg423Ser)
c.1194A>T (p.Arg398Ser)
c.1191A>T (p.Arg397Ser)
c.2037A>T (p.Arg679Ser)
c.1503A>T (p.Arg501Ser)
c.1584A>T (p.Arg528Ser)
c.2022A>T (p.Arg674Ser)
n.2192A>T
c.1155A>T (p.Arg385Ser)
n.2064A>T
14g.88610864C>ACA390565818ZC3H14c.2128C>A (p.Pro710Thr)
c.*1336C>A (n.*1336C>A)
c.1657C>A (p.Pro553Thr)
c.838C>A (p.Pro280Thr)
c.1633C>A (p.Pro545Thr)
c.2053C>A (p.Pro685Thr)
c.766C>A (p.Pro256Thr)
n.971C>A
c.2110C>A (p.Pro704Thr)
c.373C>A (p.Pro125Thr)
n.287C>A
c.1234C>A (p.Pro412Thr)
c.1872C>A
c.1735C>A (p.Pro579Thr)
n.1413C>A
c.1180C>A (p.Pro394Thr)
c.2125C>A (p.Pro709Thr)
c.2113C>A (p.Pro705Thr)
c.1732C>A (p.Pro578Thr)
c.1660C>A (p.Pro554Thr)
c.1159C>A (p.Pro387Thr)
c.2026C>A (p.Pro676Thr)
c.1972C>A (p.Pro658Thr)
c.2050C>A (p.Pro684Thr)
c.2035C>A (p.Pro679Thr)
c.1663C>A (p.Pro555Thr)
c.1951C>A (p.Pro651Thr)
c.1555C>A (p.Pro519Thr)
c.1267C>A (p.Pro423Thr)
c.1588C>A (p.Pro530Thr)
c.1501C>A (p.Pro501Thr)
c.1270C>A (p.Pro424Thr)
c.1195C>A (p.Pro399Thr)
c.1192C>A (p.Pro398Thr)
c.2038C>A (p.Pro680Thr)
c.1504C>A (p.Pro502Thr)
c.1585C>A (p.Pro529Thr)
c.2023C>A (p.Pro675Thr)
n.2193C>A
c.1156C>A (p.Pro386Thr)
n.2065C>A
 dbSNP
14g.88610864C=CA2153694399ZC3H14c.2128C= (p.Pro710=)
c.*1336C= (n.*1336C=)
c.1657C= (p.Pro553=)
c.838C= (p.Pro280=)
c.1633C= (p.Pro545=)
c.2053C= (p.Pro685=)
c.766C= (p.Pro256=)
n.971C=
c.2110C= (p.Pro704=)
c.373C= (p.Pro125=)
n.287C=
c.1234C= (p.Pro412=)
c.1872C=
c.1735C= (p.Pro579=)
n.1413C=
c.1180C= (p.Pro394=)
c.2125C= (p.Pro709=)
c.2113C= (p.Pro705=)
c.1732C= (p.Pro578=)
c.1660C= (p.Pro554=)
c.1159C= (p.Pro387=)
c.2026C= (p.Pro676=)
c.1972C= (p.Pro658=)
c.2050C= (p.Pro684=)
c.2035C= (p.Pro679=)
c.1663C= (p.Pro555=)
c.1951C= (p.Pro651=)
c.1555C= (p.Pro519=)
c.1267C= (p.Pro423=)
c.1588C= (p.Pro530=)
c.1501C= (p.Pro501=)
c.1270C= (p.Pro424=)
c.1195C= (p.Pro399=)
c.1192C= (p.Pro398=)
c.2038C= (p.Pro680=)
c.1504C= (p.Pro502=)
c.1585C= (p.Pro529=)
c.2023C= (p.Pro675=)
n.2193C=
c.1156C= (p.Pro386=)
n.2065C=
14g.88610864C>GCA390565827ZC3H14c.2128C>G (p.Pro710Ala)
c.*1336C>G (n.*1336C>G)
c.1657C>G (p.Pro553Ala)
c.838C>G (p.Pro280Ala)
c.1633C>G (p.Pro545Ala)
c.2053C>G (p.Pro685Ala)
c.766C>G (p.Pro256Ala)
n.971C>G
c.2110C>G (p.Pro704Ala)
c.373C>G (p.Pro125Ala)
n.287C>G
c.1234C>G (p.Pro412Ala)
c.1872C>G
c.1735C>G (p.Pro579Ala)
n.1413C>G
c.1180C>G (p.Pro394Ala)
c.2125C>G (p.Pro709Ala)
c.2113C>G (p.Pro705Ala)
c.1732C>G (p.Pro578Ala)
c.1660C>G (p.Pro554Ala)
c.1159C>G (p.Pro387Ala)
c.2026C>G (p.Pro676Ala)
c.1972C>G (p.Pro658Ala)
c.2050C>G (p.Pro684Ala)
c.2035C>G (p.Pro679Ala)
c.1663C>G (p.Pro555Ala)
c.1951C>G (p.Pro651Ala)
c.1555C>G (p.Pro519Ala)
c.1267C>G (p.Pro423Ala)
c.1588C>G (p.Pro530Ala)
c.1501C>G (p.Pro501Ala)
c.1270C>G (p.Pro424Ala)
c.1195C>G (p.Pro399Ala)
c.1192C>G (p.Pro398Ala)
c.2038C>G (p.Pro680Ala)
c.1504C>G (p.Pro502Ala)
c.1585C>G (p.Pro529Ala)
c.2023C>G (p.Pro675Ala)
n.2193C>G
c.1156C>G (p.Pro386Ala)
n.2065C>G
14g.88610864C>TCA390565824ZC3H14c.2128C>T (p.Pro710Ser)
c.*1336C>T (n.*1336C>T)
c.1657C>T (p.Pro553Ser)
c.838C>T (p.Pro280Ser)
c.1633C>T (p.Pro545Ser)
c.2053C>T (p.Pro685Ser)
c.766C>T (p.Pro256Ser)
n.971C>T
c.2110C>T (p.Pro704Ser)
c.373C>T (p.Pro125Ser)
n.287C>T
c.1234C>T (p.Pro412Ser)
c.1872C>T
c.1735C>T (p.Pro579Ser)
n.1413C>T
c.1180C>T (p.Pro394Ser)
c.2125C>T (p.Pro709Ser)
c.2113C>T (p.Pro705Ser)
c.1732C>T (p.Pro578Ser)
c.1660C>T (p.Pro554Ser)
c.1159C>T (p.Pro387Ser)
c.2026C>T (p.Pro676Ser)
c.1972C>T (p.Pro658Ser)
c.2050C>T (p.Pro684Ser)
c.2035C>T (p.Pro679Ser)
c.1663C>T (p.Pro555Ser)
c.1951C>T (p.Pro651Ser)
c.1555C>T (p.Pro519Ser)
c.1267C>T (p.Pro423Ser)
c.1588C>T (p.Pro530Ser)
c.1501C>T (p.Pro501Ser)
c.1270C>T (p.Pro424Ser)
c.1195C>T (p.Pro399Ser)
c.1192C>T (p.Pro398Ser)
c.2038C>T (p.Pro680Ser)
c.1504C>T (p.Pro502Ser)
c.1585C>T (p.Pro529Ser)
c.2023C>T (p.Pro675Ser)
n.2193C>T
c.1156C>T (p.Pro386Ser)
n.2065C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.88610865C>ACA390565835ZC3H14c.2129C>A (p.Pro710Gln)
c.*1337C>A (n.*1337C>A)
c.1658C>A (p.Pro553Gln)
c.839C>A (p.Pro280Gln)
c.1634C>A (p.Pro545Gln)
c.2054C>A (p.Pro685Gln)
c.767C>A (p.Pro256Gln)
n.972C>A
c.2111C>A (p.Pro704Gln)
c.374C>A (p.Pro125Gln)
n.288C>A
c.1235C>A (p.Pro412Gln)
c.1873C>A
c.1736C>A (p.Pro579Gln)
n.1414C>A
c.1181C>A (p.Pro394Gln)
c.2126C>A (p.Pro709Gln)
c.2114C>A (p.Pro705Gln)
c.1733C>A (p.Pro578Gln)
c.1661C>A (p.Pro554Gln)
c.1160C>A (p.Pro387Gln)
c.2027C>A (p.Pro676Gln)
c.1973C>A (p.Pro658Gln)
c.2051C>A (p.Pro684Gln)
c.2036C>A (p.Pro679Gln)
c.1664C>A (p.Pro555Gln)
c.1952C>A (p.Pro651Gln)
c.1556C>A (p.Pro519Gln)
c.1268C>A (p.Pro423Gln)
c.1589C>A (p.Pro530Gln)
c.1502C>A (p.Pro501Gln)
c.1271C>A (p.Pro424Gln)
c.1196C>A (p.Pro399Gln)
c.1193C>A (p.Pro398Gln)
c.2039C>A (p.Pro680Gln)
c.1505C>A (p.Pro502Gln)
c.1586C>A (p.Pro529Gln)
c.2024C>A (p.Pro675Gln)
n.2194C>A
c.1157C>A (p.Pro386Gln)
n.2066C>A
14g.88610865C=CA2153694400ZC3H14c.2129C= (p.Pro710=)
c.*1337C= (n.*1337C=)
c.1658C= (p.Pro553=)
c.839C= (p.Pro280=)
c.1634C= (p.Pro545=)
c.2054C= (p.Pro685=)
c.767C= (p.Pro256=)
n.972C=
c.2111C= (p.Pro704=)
c.374C= (p.Pro125=)
n.288C=
c.1235C= (p.Pro412=)
c.1873C=
c.1736C= (p.Pro579=)
n.1414C=
c.1181C= (p.Pro394=)
c.2126C= (p.Pro709=)
c.2114C= (p.Pro705=)
c.1733C= (p.Pro578=)
c.1661C= (p.Pro554=)
c.1160C= (p.Pro387=)
c.2027C= (p.Pro676=)
c.1973C= (p.Pro658=)
c.2051C= (p.Pro684=)
c.2036C= (p.Pro679=)
c.1664C= (p.Pro555=)
c.1952C= (p.Pro651=)
c.1556C= (p.Pro519=)
c.1268C= (p.Pro423=)
c.1589C= (p.Pro530=)
c.1502C= (p.Pro501=)
c.1271C= (p.Pro424=)
c.1196C= (p.Pro399=)
c.1193C= (p.Pro398=)
c.2039C= (p.Pro680=)
c.1505C= (p.Pro502=)
c.1586C= (p.Pro529=)
c.2024C= (p.Pro675=)
n.2194C=
c.1157C= (p.Pro386=)
n.2066C=
14g.88610865C>GCA390565838ZC3H14c.2129C>G (p.Pro710Arg)
c.*1337C>G (n.*1337C>G)
c.1658C>G (p.Pro553Arg)
c.839C>G (p.Pro280Arg)
c.1634C>G (p.Pro545Arg)
c.2054C>G (p.Pro685Arg)
c.767C>G (p.Pro256Arg)
n.972C>G
c.2111C>G (p.Pro704Arg)
c.374C>G (p.Pro125Arg)
n.288C>G
c.1235C>G (p.Pro412Arg)
c.1873C>G
c.1736C>G (p.Pro579Arg)
n.1414C>G
c.1181C>G (p.Pro394Arg)
c.2126C>G (p.Pro709Arg)
c.2114C>G (p.Pro705Arg)
c.1733C>G (p.Pro578Arg)
c.1661C>G (p.Pro554Arg)
c.1160C>G (p.Pro387Arg)
c.2027C>G (p.Pro676Arg)
c.1973C>G (p.Pro658Arg)
c.2051C>G (p.Pro684Arg)
c.2036C>G (p.Pro679Arg)
c.1664C>G (p.Pro555Arg)
c.1952C>G (p.Pro651Arg)
c.1556C>G (p.Pro519Arg)
c.1268C>G (p.Pro423Arg)
c.1589C>G (p.Pro530Arg)
c.1502C>G (p.Pro501Arg)
c.1271C>G (p.Pro424Arg)
c.1196C>G (p.Pro399Arg)
c.1193C>G (p.Pro398Arg)
c.2039C>G (p.Pro680Arg)
c.1505C>G (p.Pro502Arg)
c.1586C>G (p.Pro529Arg)
c.2024C>G (p.Pro675Arg)
n.2194C>G
c.1157C>G (p.Pro386Arg)
n.2066C>G
14g.88610865C>TCA207229ZC3H14c.2129C>T (p.Pro710Leu)
c.*1337C>T (n.*1337C>T)
c.1658C>T (p.Pro553Leu)
c.839C>T (p.Pro280Leu)
c.1634C>T (p.Pro545Leu)
c.2054C>T (p.Pro685Leu)
c.767C>T (p.Pro256Leu)
n.972C>T
c.2111C>T (p.Pro704Leu)
c.374C>T (p.Pro125Leu)
n.288C>T
c.1235C>T (p.Pro412Leu)
c.1873C>T
c.1736C>T (p.Pro579Leu)
n.1414C>T
c.1181C>T (p.Pro394Leu)
c.2126C>T (p.Pro709Leu)
c.2114C>T (p.Pro705Leu)
c.1733C>T (p.Pro578Leu)
c.1661C>T (p.Pro554Leu)
c.1160C>T (p.Pro387Leu)
c.2027C>T (p.Pro676Leu)
c.1973C>T (p.Pro658Leu)
c.2051C>T (p.Pro684Leu)
c.2036C>T (p.Pro679Leu)
c.1664C>T (p.Pro555Leu)
c.1952C>T (p.Pro651Leu)
c.1556C>T (p.Pro519Leu)
c.1268C>T (p.Pro423Leu)
c.1589C>T (p.Pro530Leu)
c.1502C>T (p.Pro501Leu)
c.1271C>T (p.Pro424Leu)
c.1196C>T (p.Pro399Leu)
c.1193C>T (p.Pro398Leu)
c.2039C>T (p.Pro680Leu)
c.1505C>T (p.Pro502Leu)
c.1586C>T (p.Pro529Leu)
c.2024C>T (p.Pro675Leu)
n.2194C>T
c.1157C>T (p.Pro386Leu)
n.2066C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.88610866G>ACA209005ZC3H14c.2130G>A (p.Pro710=)
c.*1338G>A (n.*1338G>A)
c.1659G>A (p.Pro553=)
c.840G>A (p.Pro280=)
c.1635G>A (p.Pro545=)
c.2055G>A (p.Pro685=)
c.768G>A (p.Pro256=)
n.973G>A
c.2112G>A (p.Pro704=)
c.375G>A (p.Pro125=)
n.289G>A
c.1236G>A (p.Pro412=)
c.1874G>A
c.1737G>A (p.Pro579=)
n.1415G>A
c.1182G>A (p.Pro394=)
c.2127G>A (p.Pro709=)
c.2115G>A (p.Pro705=)
c.1734G>A (p.Pro578=)
c.1662G>A (p.Pro554=)
c.1161G>A (p.Pro387=)
c.2028G>A (p.Pro676=)
c.1974G>A (p.Pro658=)
c.2052G>A (p.Pro684=)
c.2037G>A (p.Pro679=)
c.1665G>A (p.Pro555=)
c.1953G>A (p.Pro651=)
c.1557G>A (p.Pro519=)
c.1269G>A (p.Pro423=)
c.1590G>A (p.Pro530=)
c.1503G>A (p.Pro501=)
c.1272G>A (p.Pro424=)
c.1197G>A (p.Pro399=)
c.1194G>A (p.Pro398=)
c.2040G>A (p.Pro680=)
c.1506G>A (p.Pro502=)
c.1587G>A (p.Pro529=)
c.2025G>A (p.Pro675=)
n.2195G>A
c.1158G>A (p.Pro386=)
n.2067G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.88610866G>CCA487280421ZC3H14c.2130G>C (p.Pro710=)
c.*1338G>C (n.*1338G>C)
c.1659G>C (p.Pro553=)
c.840G>C (p.Pro280=)
c.1635G>C (p.Pro545=)
c.2055G>C (p.Pro685=)
c.768G>C (p.Pro256=)
n.973G>C
c.2112G>C (p.Pro704=)
c.375G>C (p.Pro125=)
n.289G>C
c.1236G>C (p.Pro412=)
c.1874G>C
c.1737G>C (p.Pro579=)
n.1415G>C
c.1182G>C (p.Pro394=)
c.2127G>C (p.Pro709=)
c.2115G>C (p.Pro705=)
c.1734G>C (p.Pro578=)
c.1662G>C (p.Pro554=)
c.1161G>C (p.Pro387=)
c.2028G>C (p.Pro676=)
c.1974G>C (p.Pro658=)
c.2052G>C (p.Pro684=)
c.2037G>C (p.Pro679=)
c.1665G>C (p.Pro555=)
c.1953G>C (p.Pro651=)
c.1557G>C (p.Pro519=)
c.1269G>C (p.Pro423=)
c.1590G>C (p.Pro530=)
c.1503G>C (p.Pro501=)
c.1272G>C (p.Pro424=)
c.1197G>C (p.Pro399=)
c.1194G>C (p.Pro398=)
c.2040G>C (p.Pro680=)
c.1506G>C (p.Pro502=)
c.1587G>C (p.Pro529=)
c.2025G>C (p.Pro675=)
n.2195G>C
c.1158G>C (p.Pro386=)
n.2067G>C
14g.88610866G=CA2153694401ZC3H14c.2130G= (p.Pro710=)
c.*1338G= (n.*1338G=)
c.1659G= (p.Pro553=)
c.840G= (p.Pro280=)
c.1635G= (p.Pro545=)
c.2055G= (p.Pro685=)
c.768G= (p.Pro256=)
n.973G=
c.2112G= (p.Pro704=)
c.375G= (p.Pro125=)
n.289G=
c.1236G= (p.Pro412=)
c.1874G=
c.1737G= (p.Pro579=)
n.1415G=
c.1182G= (p.Pro394=)
c.2127G= (p.Pro709=)
c.2115G= (p.Pro705=)
c.1734G= (p.Pro578=)
c.1662G= (p.Pro554=)
c.1161G= (p.Pro387=)
c.2028G= (p.Pro676=)
c.1974G= (p.Pro658=)
c.2052G= (p.Pro684=)
c.2037G= (p.Pro679=)
c.1665G= (p.Pro555=)
c.1953G= (p.Pro651=)
c.1557G= (p.Pro519=)
c.1269G= (p.Pro423=)
c.1590G= (p.Pro530=)
c.1503G= (p.Pro501=)
c.1272G= (p.Pro424=)
c.1197G= (p.Pro399=)
c.1194G= (p.Pro398=)
c.2040G= (p.Pro680=)
c.1506G= (p.Pro502=)
c.1587G= (p.Pro529=)
c.2025G= (p.Pro675=)
n.2195G=
c.1158G= (p.Pro386=)
n.2067G=
14g.88610866G>TCA487280422ZC3H14c.2130G>T (p.Pro710=)
c.*1338G>T (n.*1338G>T)
c.1659G>T (p.Pro553=)
c.840G>T (p.Pro280=)
c.1635G>T (p.Pro545=)
c.2055G>T (p.Pro685=)
c.768G>T (p.Pro256=)
n.973G>T
c.2112G>T (p.Pro704=)
c.375G>T (p.Pro125=)
n.289G>T
c.1236G>T (p.Pro412=)
c.1874G>T
c.1737G>T (p.Pro579=)
n.1415G>T
c.1182G>T (p.Pro394=)
c.2127G>T (p.Pro709=)
c.2115G>T (p.Pro705=)
c.1734G>T (p.Pro578=)
c.1662G>T (p.Pro554=)
c.1161G>T (p.Pro387=)
c.2028G>T (p.Pro676=)
c.1974G>T (p.Pro658=)
c.2052G>T (p.Pro684=)
c.2037G>T (p.Pro679=)
c.1665G>T (p.Pro555=)
c.1953G>T (p.Pro651=)
c.1557G>T (p.Pro519=)
c.1269G>T (p.Pro423=)
c.1590G>T (p.Pro530=)
c.1503G>T (p.Pro501=)
c.1272G>T (p.Pro424=)
c.1197G>T (p.Pro399=)
c.1194G>T (p.Pro398=)
c.2040G>T (p.Pro680=)
c.1506G>T (p.Pro502=)
c.1587G>T (p.Pro529=)
c.2025G>T (p.Pro675=)
n.2195G>T
c.1158G>T (p.Pro386=)
n.2067G>T
 gnomAD v4
14g.88610867G>ACA390565848ZC3H14c.2131G>A (p.Asp711Asn)
c.*1339G>A (n.*1339G>A)
c.1660G>A (p.Asp554Asn)
c.841G>A (p.Asp281Asn)
c.1636G>A (p.Asp546Asn)
c.2056G>A (p.Asp686Asn)
c.769G>A (p.Asp257Asn)
n.974G>A
c.2113G>A (p.Asp705Asn)
c.376G>A (p.Asp126Asn)
n.290G>A
c.1237G>A (p.Asp413Asn)
c.1875G>A
c.1738G>A (p.Asp580Asn)
n.1416G>A
c.1183G>A (p.Asp395Asn)
c.2128G>A (p.Asp710Asn)
c.2116G>A (p.Asp706Asn)
c.1735G>A (p.Asp579Asn)
c.1663G>A (p.Asp555Asn)
c.1162G>A (p.Asp388Asn)
c.2029G>A (p.Asp677Asn)
c.1975G>A (p.Asp659Asn)
c.2053G>A (p.Asp685Asn)
c.2038G>A (p.Asp680Asn)
c.1666G>A (p.Asp556Asn)
c.1954G>A (p.Asp652Asn)
c.1558G>A (p.Asp520Asn)
c.1270G>A (p.Asp424Asn)
c.1591G>A (p.Asp531Asn)
c.1504G>A (p.Asp502Asn)
c.1273G>A (p.Asp425Asn)
c.1198G>A (p.Asp400Asn)
c.1195G>A (p.Asp399Asn)
c.2041G>A (p.Asp681Asn)
c.1507G>A (p.Asp503Asn)
c.1588G>A (p.Asp530Asn)
c.2026G>A (p.Asp676Asn)
n.2196G>A
c.1159G>A (p.Asp387Asn)
n.2068G>A
14g.88610867G>CCA390565851ZC3H14c.2131G>C (p.Asp711His)
c.*1339G>C (n.*1339G>C)
c.1660G>C (p.Asp554His)
c.841G>C (p.Asp281His)
c.1636G>C (p.Asp546His)
c.2056G>C (p.Asp686His)
c.769G>C (p.Asp257His)
n.974G>C
c.2113G>C (p.Asp705His)
c.376G>C (p.Asp126His)
n.290G>C
c.1237G>C (p.Asp413His)
c.1875G>C
c.1738G>C (p.Asp580His)
n.1416G>C
c.1183G>C (p.Asp395His)
c.2128G>C (p.Asp710His)
c.2116G>C (p.Asp706His)
c.1735G>C (p.Asp579His)
c.1663G>C (p.Asp555His)
c.1162G>C (p.Asp388His)
c.2029G>C (p.Asp677His)
c.1975G>C (p.Asp659His)
c.2053G>C (p.Asp685His)
c.2038G>C (p.Asp680His)
c.1666G>C (p.Asp556His)
c.1954G>C (p.Asp652His)
c.1558G>C (p.Asp520His)
c.1270G>C (p.Asp424His)
c.1591G>C (p.Asp531His)
c.1504G>C (p.Asp502His)
c.1273G>C (p.Asp425His)
c.1198G>C (p.Asp400His)
c.1195G>C (p.Asp399His)
c.2041G>C (p.Asp681His)
c.1507G>C (p.Asp503His)
c.1588G>C (p.Asp530His)
c.2026G>C (p.Asp676His)
n.2196G>C
c.1159G>C (p.Asp387His)
n.2068G>C
14g.88610867G>TCA390565861ZC3H14c.2131G>T (p.Asp711Tyr)
c.*1339G>T (n.*1339G>T)
c.1660G>T (p.Asp554Tyr)
c.841G>T (p.Asp281Tyr)
c.1636G>T (p.Asp546Tyr)
c.2056G>T (p.Asp686Tyr)
c.769G>T (p.Asp257Tyr)
n.974G>T
c.2113G>T (p.Asp705Tyr)
c.376G>T (p.Asp126Tyr)
n.290G>T
c.1237G>T (p.Asp413Tyr)
c.1875G>T
c.1738G>T (p.Asp580Tyr)
n.1416G>T
c.1183G>T (p.Asp395Tyr)
c.2128G>T (p.Asp710Tyr)
c.2116G>T (p.Asp706Tyr)
c.1735G>T (p.Asp579Tyr)
c.1663G>T (p.Asp555Tyr)
c.1162G>T (p.Asp388Tyr)
c.2029G>T (p.Asp677Tyr)
c.1975G>T (p.Asp659Tyr)
c.2053G>T (p.Asp685Tyr)
c.2038G>T (p.Asp680Tyr)
c.1666G>T (p.Asp556Tyr)
c.1954G>T (p.Asp652Tyr)
c.1558G>T (p.Asp520Tyr)
c.1270G>T (p.Asp424Tyr)
c.1591G>T (p.Asp531Tyr)
c.1504G>T (p.Asp502Tyr)
c.1273G>T (p.Asp425Tyr)
c.1198G>T (p.Asp400Tyr)
c.1195G>T (p.Asp399Tyr)
c.2041G>T (p.Asp681Tyr)
c.1507G>T (p.Asp503Tyr)
c.1588G>T (p.Asp530Tyr)
c.2026G>T (p.Asp676Tyr)
n.2196G>T
c.1159G>T (p.Asp387Tyr)
n.2068G>T
14g.88610868A>CCA390565864ZC3H14c.2132A>C (p.Asp711Ala)
c.*1340A>C (n.*1340A>C)
c.1661A>C (p.Asp554Ala)
c.842A>C (p.Asp281Ala)
c.1637A>C (p.Asp546Ala)
c.2057A>C (p.Asp686Ala)
c.770A>C (p.Asp257Ala)
n.975A>C
c.2114A>C (p.Asp705Ala)
c.377A>C (p.Asp126Ala)
n.291A>C
c.1238A>C (p.Asp413Ala)
c.1876A>C
c.1739A>C (p.Asp580Ala)
n.1417A>C
c.1184A>C (p.Asp395Ala)
c.2129A>C (p.Asp710Ala)
c.2117A>C (p.Asp706Ala)
c.1736A>C (p.Asp579Ala)
c.1664A>C (p.Asp555Ala)
c.1163A>C (p.Asp388Ala)
c.2030A>C (p.Asp677Ala)
c.1976A>C (p.Asp659Ala)
c.2054A>C (p.Asp685Ala)
c.2039A>C (p.Asp680Ala)
c.1667A>C (p.Asp556Ala)
c.1955A>C (p.Asp652Ala)
c.1559A>C (p.Asp520Ala)
c.1271A>C (p.Asp424Ala)
c.1592A>C (p.Asp531Ala)
c.1505A>C (p.Asp502Ala)
c.1274A>C (p.Asp425Ala)
c.1199A>C (p.Asp400Ala)
c.1196A>C (p.Asp399Ala)
c.2042A>C (p.Asp681Ala)
c.1508A>C (p.Asp503Ala)
c.1589A>C (p.Asp530Ala)
c.2027A>C (p.Asp676Ala)
n.2197A>C
c.1160A>C (p.Asp387Ala)
n.2069A>C
14g.88610868A>GCA390565884ZC3H14c.2132A>G (p.Asp711Gly)
c.*1340A>G (n.*1340A>G)
c.1661A>G (p.Asp554Gly)
c.842A>G (p.Asp281Gly)
c.1637A>G (p.Asp546Gly)
c.2057A>G (p.Asp686Gly)
c.770A>G (p.Asp257Gly)
n.975A>G
c.2114A>G (p.Asp705Gly)
c.377A>G (p.Asp126Gly)
n.291A>G
c.1238A>G (p.Asp413Gly)
c.1876A>G
c.1739A>G (p.Asp580Gly)
n.1417A>G
c.1184A>G (p.Asp395Gly)
c.2129A>G (p.Asp710Gly)
c.2117A>G (p.Asp706Gly)
c.1736A>G (p.Asp579Gly)
c.1664A>G (p.Asp555Gly)
c.1163A>G (p.Asp388Gly)
c.2030A>G (p.Asp677Gly)
c.1976A>G (p.Asp659Gly)
c.2054A>G (p.Asp685Gly)
c.2039A>G (p.Asp680Gly)
c.1667A>G (p.Asp556Gly)
c.1955A>G (p.Asp652Gly)
c.1559A>G (p.Asp520Gly)
c.1271A>G (p.Asp424Gly)
c.1592A>G (p.Asp531Gly)
c.1505A>G (p.Asp502Gly)
c.1274A>G (p.Asp425Gly)
c.1199A>G (p.Asp400Gly)
c.1196A>G (p.Asp399Gly)
c.2042A>G (p.Asp681Gly)
c.1508A>G (p.Asp503Gly)
c.1589A>G (p.Asp530Gly)
c.2027A>G (p.Asp676Gly)
n.2197A>G
c.1160A>G (p.Asp387Gly)
n.2069A>G
14g.88610868A>TCA390565887ZC3H14c.2132A>T (p.Asp711Val)
c.*1340A>T (n.*1340A>T)
c.1661A>T (p.Asp554Val)
c.842A>T (p.Asp281Val)
c.1637A>T (p.Asp546Val)
c.2057A>T (p.Asp686Val)
c.770A>T (p.Asp257Val)
n.975A>T
c.2114A>T (p.Asp705Val)
c.377A>T (p.Asp126Val)
n.291A>T
c.1238A>T (p.Asp413Val)
c.1876A>T
c.1739A>T (p.Asp580Val)
n.1417A>T
c.1184A>T (p.Asp395Val)
c.2129A>T (p.Asp710Val)
c.2117A>T (p.Asp706Val)
c.1736A>T (p.Asp579Val)
c.1664A>T (p.Asp555Val)
c.1163A>T (p.Asp388Val)
c.2030A>T (p.Asp677Val)
c.1976A>T (p.Asp659Val)
c.2054A>T (p.Asp685Val)
c.2039A>T (p.Asp680Val)
c.1667A>T (p.Asp556Val)
c.1955A>T (p.Asp652Val)
c.1559A>T (p.Asp520Val)
c.1271A>T (p.Asp424Val)
c.1592A>T (p.Asp531Val)
c.1505A>T (p.Asp502Val)
c.1274A>T (p.Asp425Val)
c.1199A>T (p.Asp400Val)
c.1196A>T (p.Asp399Val)
c.2042A>T (p.Asp681Val)
c.1508A>T (p.Asp503Val)
c.1589A>T (p.Asp530Val)
c.2027A>T (p.Asp676Val)
n.2197A>T
c.1160A>T (p.Asp387Val)
n.2069A>T
14g.88610869C>ACA390565893ZC3H14c.2133C>A (p.Asp711Glu)
c.*1341C>A (n.*1341C>A)
c.1662C>A (p.Asp554Glu)
c.843C>A (p.Asp281Glu)
c.1638C>A (p.Asp546Glu)
c.2058C>A (p.Asp686Glu)
c.771C>A (p.Asp257Glu)
n.976C>A
c.2115C>A (p.Asp705Glu)
c.378C>A (p.Asp126Glu)
n.292C>A
c.1239C>A (p.Asp413Glu)
c.1877C>A
c.1740C>A (p.Asp580Glu)
n.1418C>A
c.1185C>A (p.Asp395Glu)
c.2130C>A (p.Asp710Glu)
c.2118C>A (p.Asp706Glu)
c.1737C>A (p.Asp579Glu)
c.1665C>A (p.Asp555Glu)
c.1164C>A (p.Asp388Glu)
c.2031C>A (p.Asp677Glu)
c.1977C>A (p.Asp659Glu)
c.2055C>A (p.Asp685Glu)
c.2040C>A (p.Asp680Glu)
c.1668C>A (p.Asp556Glu)
c.1956C>A (p.Asp652Glu)
c.1560C>A (p.Asp520Glu)
c.1272C>A (p.Asp424Glu)
c.1593C>A (p.Asp531Glu)
c.1506C>A (p.Asp502Glu)
c.1275C>A (p.Asp425Glu)
c.1200C>A (p.Asp400Glu)
c.1197C>A (p.Asp399Glu)
c.2043C>A (p.Asp681Glu)
c.1509C>A (p.Asp503Glu)
c.1590C>A (p.Asp530Glu)
c.2028C>A (p.Asp676Glu)
n.2198C>A
c.1161C>A (p.Asp387Glu)
n.2070C>A
14g.88610869C>GCA390565900ZC3H14c.2133C>G (p.Asp711Glu)
c.*1341C>G (n.*1341C>G)
c.1662C>G (p.Asp554Glu)
c.843C>G (p.Asp281Glu)
c.1638C>G (p.Asp546Glu)
c.2058C>G (p.Asp686Glu)
c.771C>G (p.Asp257Glu)
n.976C>G
c.2115C>G (p.Asp705Glu)
c.378C>G (p.Asp126Glu)
n.292C>G
c.1239C>G (p.Asp413Glu)
c.1877C>G
c.1740C>G (p.Asp580Glu)
n.1418C>G
c.1185C>G (p.Asp395Glu)
c.2130C>G (p.Asp710Glu)
c.2118C>G (p.Asp706Glu)
c.1737C>G (p.Asp579Glu)
c.1665C>G (p.Asp555Glu)
c.1164C>G (p.Asp388Glu)
c.2031C>G (p.Asp677Glu)
c.1977C>G (p.Asp659Glu)
c.2055C>G (p.Asp685Glu)
c.2040C>G (p.Asp680Glu)
c.1668C>G (p.Asp556Glu)
c.1956C>G (p.Asp652Glu)
c.1560C>G (p.Asp520Glu)
c.1272C>G (p.Asp424Glu)
c.1593C>G (p.Asp531Glu)
c.1506C>G (p.Asp502Glu)
c.1275C>G (p.Asp425Glu)
c.1200C>G (p.Asp400Glu)
c.1197C>G (p.Asp399Glu)
c.2043C>G (p.Asp681Glu)
c.1509C>G (p.Asp503Glu)
c.1590C>G (p.Asp530Glu)
c.2028C>G (p.Asp676Glu)
n.2198C>G
c.1161C>G (p.Asp387Glu)
n.2070C>G
14g.88610869C>TCA487280424ZC3H14c.2133C>T (p.Asp711=)
c.*1341C>T (n.*1341C>T)
c.1662C>T (p.Asp554=)
c.843C>T (p.Asp281=)
c.1638C>T (p.Asp546=)
c.2058C>T (p.Asp686=)
c.771C>T (p.Asp257=)
n.976C>T
c.2115C>T (p.Asp705=)
c.378C>T (p.Asp126=)
n.292C>T
c.1239C>T (p.Asp413=)
c.1877C>T
c.1740C>T (p.Asp580=)
n.1418C>T
c.1185C>T (p.Asp395=)
c.2130C>T (p.Asp710=)
c.2118C>T (p.Asp706=)
c.1737C>T (p.Asp579=)
c.1665C>T (p.Asp555=)
c.1164C>T (p.Asp388=)
c.2031C>T (p.Asp677=)
c.1977C>T (p.Asp659=)
c.2055C>T (p.Asp685=)
c.2040C>T (p.Asp680=)
c.1668C>T (p.Asp556=)
c.1956C>T (p.Asp652=)
c.1560C>T (p.Asp520=)
c.1272C>T (p.Asp424=)
c.1593C>T (p.Asp531=)
c.1506C>T (p.Asp502=)
c.1275C>T (p.Asp425=)
c.1200C>T (p.Asp400=)
c.1197C>T (p.Asp399=)
c.2043C>T (p.Asp681=)
c.1509C>T (p.Asp503=)
c.1590C>T (p.Asp530=)
c.2028C>T (p.Asp676=)
n.2198C>T
c.1161C>T (p.Asp387=)
n.2070C>T
 gnomAD v4
14g.88610870T>ACA390565909ZC3H14c.2134T>A (p.Cys712Ser)
c.*1342T>A (n.*1342T>A)
c.1663T>A (p.Cys555Ser)
c.844T>A (p.Cys282Ser)
c.1639T>A (p.Cys547Ser)
c.2059T>A (p.Cys687Ser)
c.772T>A (p.Cys258Ser)
n.977T>A
c.2116T>A (p.Cys706Ser)
c.379T>A (p.Cys127Ser)
n.293T>A
c.1240T>A (p.Cys414Ser)
c.1878T>A
c.1741T>A (p.Cys581Ser)
n.1419T>A
c.1186T>A (p.Cys396Ser)
c.2131T>A (p.Cys711Ser)
c.2119T>A (p.Cys707Ser)
c.1738T>A (p.Cys580Ser)
c.1666T>A (p.Cys556Ser)
c.1165T>A (p.Cys389Ser)
c.2032T>A (p.Cys678Ser)
c.1978T>A (p.Cys660Ser)
c.2056T>A (p.Cys686Ser)
c.2041T>A (p.Cys681Ser)
c.1669T>A (p.Cys557Ser)
c.1957T>A (p.Cys653Ser)
c.1561T>A (p.Cys521Ser)
c.1273T>A (p.Cys425Ser)
c.1594T>A (p.Cys532Ser)
c.1507T>A (p.Cys503Ser)
c.1276T>A (p.Cys426Ser)
c.1201T>A (p.Cys401Ser)
c.1198T>A (p.Cys400Ser)
c.2044T>A (p.Cys682Ser)
c.1510T>A (p.Cys504Ser)
c.1591T>A (p.Cys531Ser)
c.2029T>A (p.Cys677Ser)
n.2199T>A
c.1162T>A (p.Cys388Ser)
n.2071T>A
14g.88610870T>CCA390565925ZC3H14c.2134T>C (p.Cys712Arg)
c.*1342T>C (n.*1342T>C)
c.1663T>C (p.Cys555Arg)
c.844T>C (p.Cys282Arg)
c.1639T>C (p.Cys547Arg)
c.2059T>C (p.Cys687Arg)
c.772T>C (p.Cys258Arg)
n.977T>C
c.2116T>C (p.Cys706Arg)
c.379T>C (p.Cys127Arg)
n.293T>C
c.1240T>C (p.Cys414Arg)
c.1878T>C
c.1741T>C (p.Cys581Arg)
n.1419T>C
c.1186T>C (p.Cys396Arg)
c.2131T>C (p.Cys711Arg)
c.2119T>C (p.Cys707Arg)
c.1738T>C (p.Cys580Arg)
c.1666T>C (p.Cys556Arg)
c.1165T>C (p.Cys389Arg)
c.2032T>C (p.Cys678Arg)
c.1978T>C (p.Cys660Arg)
c.2056T>C (p.Cys686Arg)
c.2041T>C (p.Cys681Arg)
c.1669T>C (p.Cys557Arg)
c.1957T>C (p.Cys653Arg)
c.1561T>C (p.Cys521Arg)
c.1273T>C (p.Cys425Arg)
c.1594T>C (p.Cys532Arg)
c.1507T>C (p.Cys503Arg)
c.1276T>C (p.Cys426Arg)
c.1201T>C (p.Cys401Arg)
c.1198T>C (p.Cys400Arg)
c.2044T>C (p.Cys682Arg)
c.1510T>C (p.Cys504Arg)
c.1591T>C (p.Cys531Arg)
c.2029T>C (p.Cys677Arg)
n.2199T>C
c.1162T>C (p.Cys388Arg)
n.2071T>C
14g.88610870T>GCA390565920ZC3H14c.2134T>G (p.Cys712Gly)
c.*1342T>G (n.*1342T>G)
c.1663T>G (p.Cys555Gly)
c.844T>G (p.Cys282Gly)
c.1639T>G (p.Cys547Gly)
c.2059T>G (p.Cys687Gly)
c.772T>G (p.Cys258Gly)
n.977T>G
c.2116T>G (p.Cys706Gly)
c.379T>G (p.Cys127Gly)
n.293T>G
c.1240T>G (p.Cys414Gly)
c.1878T>G
c.1741T>G (p.Cys581Gly)
n.1419T>G
c.1186T>G (p.Cys396Gly)
c.2131T>G (p.Cys711Gly)
c.2119T>G (p.Cys707Gly)
c.1738T>G (p.Cys580Gly)
c.1666T>G (p.Cys556Gly)
c.1165T>G (p.Cys389Gly)
c.2032T>G (p.Cys678Gly)
c.1978T>G (p.Cys660Gly)
c.2056T>G (p.Cys686Gly)
c.2041T>G (p.Cys681Gly)
c.1669T>G (p.Cys557Gly)
c.1957T>G (p.Cys653Gly)
c.1561T>G (p.Cys521Gly)
c.1273T>G (p.Cys425Gly)
c.1594T>G (p.Cys532Gly)
c.1507T>G (p.Cys503Gly)
c.1276T>G (p.Cys426Gly)
c.1201T>G (p.Cys401Gly)
c.1198T>G (p.Cys400Gly)
c.2044T>G (p.Cys682Gly)
c.1510T>G (p.Cys504Gly)
c.1591T>G (p.Cys531Gly)
c.2029T>G (p.Cys677Gly)
n.2199T>G
c.1162T>G (p.Cys388Gly)
n.2071T>G
14g.88610871G>ACA390565929ZC3H14c.2135G>A (p.Cys712Tyr)
c.*1343G>A (n.*1343G>A)
c.1664G>A (p.Cys555Tyr)
c.845G>A (p.Cys282Tyr)
c.1640G>A (p.Cys547Tyr)
c.2060G>A (p.Cys687Tyr)
c.773G>A (p.Cys258Tyr)
n.978G>A
c.2117G>A (p.Cys706Tyr)
c.380G>A (p.Cys127Tyr)
n.294G>A
c.1241G>A (p.Cys414Tyr)
c.1879G>A
c.1742G>A (p.Cys581Tyr)
n.1420G>A
c.1187G>A (p.Cys396Tyr)
c.2132G>A (p.Cys711Tyr)
c.2120G>A (p.Cys707Tyr)
c.1739G>A (p.Cys580Tyr)
c.1667G>A (p.Cys556Tyr)
c.1166G>A (p.Cys389Tyr)
c.2033G>A (p.Cys678Tyr)
c.1979G>A (p.Cys660Tyr)
c.2057G>A (p.Cys686Tyr)
c.2042G>A (p.Cys681Tyr)
c.1670G>A (p.Cys557Tyr)
c.1958G>A (p.Cys653Tyr)
c.1562G>A (p.Cys521Tyr)
c.1274G>A (p.Cys425Tyr)
c.1595G>A (p.Cys532Tyr)
c.1508G>A (p.Cys503Tyr)
c.1277G>A (p.Cys426Tyr)
c.1202G>A (p.Cys401Tyr)
c.1199G>A (p.Cys400Tyr)
c.2045G>A (p.Cys682Tyr)
c.1511G>A (p.Cys504Tyr)
c.1592G>A (p.Cys531Tyr)
c.2030G>A (p.Cys677Tyr)
n.2200G>A
c.1163G>A (p.Cys388Tyr)
n.2072G>A
14g.88610871G>CCA390565935ZC3H14c.2135G>C (p.Cys712Ser)
c.*1343G>C (n.*1343G>C)
c.1664G>C (p.Cys555Ser)
c.845G>C (p.Cys282Ser)
c.1640G>C (p.Cys547Ser)
c.2060G>C (p.Cys687Ser)
c.773G>C (p.Cys258Ser)
n.978G>C
c.2117G>C (p.Cys706Ser)
c.380G>C (p.Cys127Ser)
n.294G>C
c.1241G>C (p.Cys414Ser)
c.1879G>C
c.1742G>C (p.Cys581Ser)
n.1420G>C
c.1187G>C (p.Cys396Ser)
c.2132G>C (p.Cys711Ser)
c.2120G>C (p.Cys707Ser)
c.1739G>C (p.Cys580Ser)
c.1667G>C (p.Cys556Ser)
c.1166G>C (p.Cys389Ser)
c.2033G>C (p.Cys678Ser)
c.1979G>C (p.Cys660Ser)
c.2057G>C (p.Cys686Ser)
c.2042G>C (p.Cys681Ser)
c.1670G>C (p.Cys557Ser)
c.1958G>C (p.Cys653Ser)
c.1562G>C (p.Cys521Ser)
c.1274G>C (p.Cys425Ser)
c.1595G>C (p.Cys532Ser)
c.1508G>C (p.Cys503Ser)
c.1277G>C (p.Cys426Ser)
c.1202G>C (p.Cys401Ser)
c.1199G>C (p.Cys400Ser)
c.2045G>C (p.Cys682Ser)
c.1511G>C (p.Cys504Ser)
c.1592G>C (p.Cys531Ser)
c.2030G>C (p.Cys677Ser)
n.2200G>C
c.1163G>C (p.Cys388Ser)
n.2072G>C
14g.88610871G>TCA390565939ZC3H14c.2135G>T (p.Cys712Phe)
c.*1343G>T (n.*1343G>T)
c.1664G>T (p.Cys555Phe)
c.845G>T (p.Cys282Phe)
c.1640G>T (p.Cys547Phe)
c.2060G>T (p.Cys687Phe)
c.773G>T (p.Cys258Phe)
n.978G>T
c.2117G>T (p.Cys706Phe)
c.380G>T (p.Cys127Phe)
n.294G>T
c.1241G>T (p.Cys414Phe)
c.1879G>T
c.1742G>T (p.Cys581Phe)
n.1420G>T
c.1187G>T (p.Cys396Phe)
c.2132G>T (p.Cys711Phe)
c.2120G>T (p.Cys707Phe)
c.1739G>T (p.Cys580Phe)
c.1667G>T (p.Cys556Phe)
c.1166G>T (p.Cys389Phe)
c.2033G>T (p.Cys678Phe)
c.1979G>T (p.Cys660Phe)
c.2057G>T (p.Cys686Phe)
c.2042G>T (p.Cys681Phe)
c.1670G>T (p.Cys557Phe)
c.1958G>T (p.Cys653Phe)
c.1562G>T (p.Cys521Phe)
c.1274G>T (p.Cys425Phe)
c.1595G>T (p.Cys532Phe)
c.1508G>T (p.Cys503Phe)
c.1277G>T (p.Cys426Phe)
c.1202G>T (p.Cys401Phe)
c.1199G>T (p.Cys400Phe)
c.2045G>T (p.Cys682Phe)
c.1511G>T (p.Cys504Phe)
c.1592G>T (p.Cys531Phe)
c.2030G>T (p.Cys677Phe)
n.2200G>T
c.1163G>T (p.Cys388Phe)
n.2072G>T
14g.88610872C>ACA390565943ZC3H14c.2136C>A (p.Cys712Ter)
c.*1344C>A (n.*1344C>A)
c.1665C>A (p.Cys555Ter)
c.846C>A (p.Cys282Ter)
c.1641C>A (p.Cys547Ter)
c.2061C>A (p.Cys687Ter)
c.774C>A (p.Cys258Ter)
n.979C>A
c.2118C>A (p.Cys706Ter)
c.381C>A (p.Cys127Ter)
n.295C>A
c.1242C>A (p.Cys414Ter)
c.1880C>A
c.1743C>A (p.Cys581Ter)
n.1421C>A
c.1188C>A (p.Cys396Ter)
c.2133C>A (p.Cys711Ter)
c.2121C>A (p.Cys707Ter)
c.1740C>A (p.Cys580Ter)
c.1668C>A (p.Cys556Ter)
c.1167C>A (p.Cys389Ter)
c.2034C>A (p.Cys678Ter)
c.1980C>A (p.Cys660Ter)
c.2058C>A (p.Cys686Ter)
c.2043C>A (p.Cys681Ter)
c.1671C>A (p.Cys557Ter)
c.1959C>A (p.Cys653Ter)
c.1563C>A (p.Cys521Ter)
c.1275C>A (p.Cys425Ter)
c.1596C>A (p.Cys532Ter)
c.1509C>A (p.Cys503Ter)
c.1278C>A (p.Cys426Ter)
c.1203C>A (p.Cys401Ter)
c.1200C>A (p.Cys400Ter)
c.2046C>A (p.Cys682Ter)
c.1512C>A (p.Cys504Ter)
c.1593C>A (p.Cys531Ter)
c.2031C>A (p.Cys677Ter)
n.2201C>A
c.1164C>A (p.Cys388Ter)
n.2073C>A
14g.88610872C>GCA390565944ZC3H14c.2136C>G (p.Cys712Trp)
c.*1344C>G (n.*1344C>G)
c.1665C>G (p.Cys555Trp)
c.846C>G (p.Cys282Trp)
c.1641C>G (p.Cys547Trp)
c.2061C>G (p.Cys687Trp)
c.774C>G (p.Cys258Trp)
n.979C>G
c.2118C>G (p.Cys706Trp)
c.381C>G (p.Cys127Trp)
n.295C>G
c.1242C>G (p.Cys414Trp)
c.1880C>G
c.1743C>G (p.Cys581Trp)
n.1421C>G
c.1188C>G (p.Cys396Trp)
c.2133C>G (p.Cys711Trp)
c.2121C>G (p.Cys707Trp)
c.1740C>G (p.Cys580Trp)
c.1668C>G (p.Cys556Trp)
c.1167C>G (p.Cys389Trp)
c.2034C>G (p.Cys678Trp)
c.1980C>G (p.Cys660Trp)
c.2058C>G (p.Cys686Trp)
c.2043C>G (p.Cys681Trp)
c.1671C>G (p.Cys557Trp)
c.1959C>G (p.Cys653Trp)
c.1563C>G (p.Cys521Trp)
c.1275C>G (p.Cys425Trp)
c.1596C>G (p.Cys532Trp)
c.1509C>G (p.Cys503Trp)
c.1278C>G (p.Cys426Trp)
c.1203C>G (p.Cys401Trp)
c.1200C>G (p.Cys400Trp)
c.2046C>G (p.Cys682Trp)
c.1512C>G (p.Cys504Trp)
c.1593C>G (p.Cys531Trp)
c.2031C>G (p.Cys677Trp)
n.2201C>G
c.1164C>G (p.Cys388Trp)
n.2073C>G
14g.88610872C>TCA487280425ZC3H14c.2136C>T (p.Cys712=)
c.*1344C>T (n.*1344C>T)
c.1665C>T (p.Cys555=)
c.846C>T (p.Cys282=)
c.1641C>T (p.Cys547=)
c.2061C>T (p.Cys687=)
c.774C>T (p.Cys258=)
n.979C>T
c.2118C>T (p.Cys706=)
c.381C>T (p.Cys127=)
n.295C>T
c.1242C>T (p.Cys414=)
c.1880C>T
c.1743C>T (p.Cys581=)
n.1421C>T
c.1188C>T (p.Cys396=)
c.2133C>T (p.Cys711=)
c.2121C>T (p.Cys707=)
c.1740C>T (p.Cys580=)
c.1668C>T (p.Cys556=)
c.1167C>T (p.Cys389=)
c.2034C>T (p.Cys678=)
c.1980C>T (p.Cys660=)
c.2058C>T (p.Cys686=)
c.2043C>T (p.Cys681=)
c.1671C>T (p.Cys557=)
c.1959C>T (p.Cys653=)
c.1563C>T (p.Cys521=)
c.1275C>T (p.Cys425=)
c.1596C>T (p.Cys532=)
c.1509C>T (p.Cys503=)
c.1278C>T (p.Cys426=)
c.1203C>T (p.Cys401=)
c.1200C>T (p.Cys400=)
c.2046C>T (p.Cys682=)
c.1512C>T (p.Cys504=)
c.1593C>T (p.Cys531=)
c.2031C>T (p.Cys677=)
n.2201C>T
c.1164C>T (p.Cys388=)
n.2073C>T
14g.88610873A>CCA390565959ZC3H14c.2137A>C (p.Thr713Pro)
c.*1345A>C (n.*1345A>C)
c.1666A>C (p.Thr556Pro)
c.847A>C (p.Thr283Pro)
c.1642A>C (p.Thr548Pro)
c.2062A>C (p.Thr688Pro)
c.775A>C (p.Thr259Pro)
n.980A>C
c.2119A>C (p.Thr707Pro)
c.382A>C (p.Thr128Pro)
n.296A>C
c.1243A>C (p.Thr415Pro)
c.1881A>C
c.1744A>C (p.Thr582Pro)
n.1422A>C
c.1189A>C (p.Thr397Pro)
c.2134A>C (p.Thr712Pro)
c.2122A>C (p.Thr708Pro)
c.1741A>C (p.Thr581Pro)
c.1669A>C (p.Thr557Pro)
c.1168A>C (p.Thr390Pro)
c.2035A>C (p.Thr679Pro)
c.1981A>C (p.Thr661Pro)
c.2059A>C (p.Thr687Pro)
c.2044A>C (p.Thr682Pro)
c.1672A>C (p.Thr558Pro)
c.1960A>C (p.Thr654Pro)
c.1564A>C (p.Thr522Pro)
c.1276A>C (p.Thr426Pro)
c.1597A>C (p.Thr533Pro)
c.1510A>C (p.Thr504Pro)
c.1279A>C (p.Thr427Pro)
c.1204A>C (p.Thr402Pro)
c.1201A>C (p.Thr401Pro)
c.2047A>C (p.Thr683Pro)
c.1513A>C (p.Thr505Pro)
c.1594A>C (p.Thr532Pro)
c.2032A>C (p.Thr678Pro)
n.2202A>C
c.1165A>C (p.Thr389Pro)
n.2074A>C
14g.88610873A>GCA390565948ZC3H14c.2137A>G (p.Thr713Ala)
c.*1345A>G (n.*1345A>G)
c.1666A>G (p.Thr556Ala)
c.847A>G (p.Thr283Ala)
c.1642A>G (p.Thr548Ala)
c.2062A>G (p.Thr688Ala)
c.775A>G (p.Thr259Ala)
n.980A>G
c.2119A>G (p.Thr707Ala)
c.382A>G (p.Thr128Ala)
n.296A>G
c.1243A>G (p.Thr415Ala)
c.1881A>G
c.1744A>G (p.Thr582Ala)
n.1422A>G
c.1189A>G (p.Thr397Ala)
c.2134A>G (p.Thr712Ala)
c.2122A>G (p.Thr708Ala)
c.1741A>G (p.Thr581Ala)
c.1669A>G (p.Thr557Ala)
c.1168A>G (p.Thr390Ala)
c.2035A>G (p.Thr679Ala)
c.1981A>G (p.Thr661Ala)
c.2059A>G (p.Thr687Ala)
c.2044A>G (p.Thr682Ala)
c.1672A>G (p.Thr558Ala)
c.1960A>G (p.Thr654Ala)
c.1564A>G (p.Thr522Ala)
c.1276A>G (p.Thr426Ala)
c.1597A>G (p.Thr533Ala)
c.1510A>G (p.Thr504Ala)
c.1279A>G (p.Thr427Ala)
c.1204A>G (p.Thr402Ala)
c.1201A>G (p.Thr401Ala)
c.2047A>G (p.Thr683Ala)
c.1513A>G (p.Thr505Ala)
c.1594A>G (p.Thr532Ala)
c.2032A>G (p.Thr678Ala)
n.2202A>G
c.1165A>G (p.Thr389Ala)
n.2074A>G
 gnomAD v4
14g.88610873A>TCA390565945ZC3H14c.2137A>T (p.Thr713Ser)
c.*1345A>T (n.*1345A>T)
c.1666A>T (p.Thr556Ser)
c.847A>T (p.Thr283Ser)
c.1642A>T (p.Thr548Ser)
c.2062A>T (p.Thr688Ser)
c.775A>T (p.Thr259Ser)
n.980A>T
c.2119A>T (p.Thr707Ser)
c.382A>T (p.Thr128Ser)
n.296A>T
c.1243A>T (p.Thr415Ser)
c.1881A>T
c.1744A>T (p.Thr582Ser)
n.1422A>T
c.1189A>T (p.Thr397Ser)
c.2134A>T (p.Thr712Ser)
c.2122A>T (p.Thr708Ser)
c.1741A>T (p.Thr581Ser)
c.1669A>T (p.Thr557Ser)
c.1168A>T (p.Thr390Ser)
c.2035A>T (p.Thr679Ser)
c.1981A>T (p.Thr661Ser)
c.2059A>T (p.Thr687Ser)
c.2044A>T (p.Thr682Ser)
c.1672A>T (p.Thr558Ser)
c.1960A>T (p.Thr654Ser)
c.1564A>T (p.Thr522Ser)
c.1276A>T (p.Thr426Ser)
c.1597A>T (p.Thr533Ser)
c.1510A>T (p.Thr504Ser)
c.1279A>T (p.Thr427Ser)
c.1204A>T (p.Thr402Ser)
c.1201A>T (p.Thr401Ser)
c.2047A>T (p.Thr683Ser)
c.1513A>T (p.Thr505Ser)
c.1594A>T (p.Thr532Ser)
c.2032A>T (p.Thr678Ser)
n.2202A>T
c.1165A>T (p.Thr389Ser)
n.2074A>T
14g.88610874C>ACA390565963ZC3H14c.2138C>A (p.Thr713Lys)
c.*1346C>A (n.*1346C>A)
c.1667C>A (p.Thr556Lys)
c.848C>A (p.Thr283Lys)
c.1643C>A (p.Thr548Lys)
c.2063C>A (p.Thr688Lys)
c.776C>A (p.Thr259Lys)
n.981C>A
c.2120C>A (p.Thr707Lys)
c.383C>A (p.Thr128Lys)
n.297C>A
c.1244C>A (p.Thr415Lys)
c.1882C>A
c.1745C>A (p.Thr582Lys)
n.1423C>A
c.1190C>A (p.Thr397Lys)
c.2135C>A (p.Thr712Lys)
c.2123C>A (p.Thr708Lys)
c.1742C>A (p.Thr581Lys)
c.1670C>A (p.Thr557Lys)
c.1169C>A (p.Thr390Lys)
c.2036C>A (p.Thr679Lys)
c.1982C>A (p.Thr661Lys)
c.2060C>A (p.Thr687Lys)
c.2045C>A (p.Thr682Lys)
c.1673C>A (p.Thr558Lys)
c.1961C>A (p.Thr654Lys)
c.1565C>A (p.Thr522Lys)
c.1277C>A (p.Thr426Lys)
c.1598C>A (p.Thr533Lys)
c.1511C>A (p.Thr504Lys)
c.1280C>A (p.Thr427Lys)
c.1205C>A (p.Thr402Lys)
c.1202C>A (p.Thr401Lys)
c.2048C>A (p.Thr683Lys)
c.1514C>A (p.Thr505Lys)
c.1595C>A (p.Thr532Lys)
c.2033C>A (p.Thr678Lys)
n.2203C>A
c.1166C>A (p.Thr389Lys)
n.2075C>A
 COSMIC COSMIC
14g.88610874C>GCA390565964ZC3H14c.2138C>G (p.Thr713Arg)
c.*1346C>G (n.*1346C>G)
c.1667C>G (p.Thr556Arg)
c.848C>G (p.Thr283Arg)
c.1643C>G (p.Thr548Arg)
c.2063C>G (p.Thr688Arg)
c.776C>G (p.Thr259Arg)
n.981C>G
c.2120C>G (p.Thr707Arg)
c.383C>G (p.Thr128Arg)
n.297C>G
c.1244C>G (p.Thr415Arg)
c.1882C>G
c.1745C>G (p.Thr582Arg)
n.1423C>G
c.1190C>G (p.Thr397Arg)
c.2135C>G (p.Thr712Arg)
c.2123C>G (p.Thr708Arg)
c.1742C>G (p.Thr581Arg)
c.1670C>G (p.Thr557Arg)
c.1169C>G (p.Thr390Arg)
c.2036C>G (p.Thr679Arg)
c.1982C>G (p.Thr661Arg)
c.2060C>G (p.Thr687Arg)
c.2045C>G (p.Thr682Arg)
c.1673C>G (p.Thr558Arg)
c.1961C>G (p.Thr654Arg)
c.1565C>G (p.Thr522Arg)
c.1277C>G (p.Thr426Arg)
c.1598C>G (p.Thr533Arg)
c.1511C>G (p.Thr504Arg)
c.1280C>G (p.Thr427Arg)
c.1205C>G (p.Thr402Arg)
c.1202C>G (p.Thr401Arg)
c.2048C>G (p.Thr683Arg)
c.1514C>G (p.Thr505Arg)
c.1595C>G (p.Thr532Arg)
c.2033C>G (p.Thr678Arg)
n.2203C>G
c.1166C>G (p.Thr389Arg)
n.2075C>G
14g.88610874C>TCA390565965ZC3H14c.2138C>T (p.Thr713Ile)
c.*1346C>T (n.*1346C>T)
c.1667C>T (p.Thr556Ile)
c.848C>T (p.Thr283Ile)
c.1643C>T (p.Thr548Ile)
c.2063C>T (p.Thr688Ile)
c.776C>T (p.Thr259Ile)
n.981C>T
c.2120C>T (p.Thr707Ile)
c.383C>T (p.Thr128Ile)
n.297C>T
c.1244C>T (p.Thr415Ile)
c.1882C>T
c.1745C>T (p.Thr582Ile)
n.1423C>T
c.1190C>T (p.Thr397Ile)
c.2135C>T (p.Thr712Ile)
c.2123C>T (p.Thr708Ile)
c.1742C>T (p.Thr581Ile)
c.1670C>T (p.Thr557Ile)
c.1169C>T (p.Thr390Ile)
c.2036C>T (p.Thr679Ile)
c.1982C>T (p.Thr661Ile)
c.2060C>T (p.Thr687Ile)
c.2045C>T (p.Thr682Ile)
c.1673C>T (p.Thr558Ile)
c.1961C>T (p.Thr654Ile)
c.1565C>T (p.Thr522Ile)
c.1277C>T (p.Thr426Ile)
c.1598C>T (p.Thr533Ile)
c.1511C>T (p.Thr504Ile)
c.1280C>T (p.Thr427Ile)
c.1205C>T (p.Thr402Ile)
c.1202C>T (p.Thr401Ile)
c.2048C>T (p.Thr683Ile)
c.1514C>T (p.Thr505Ile)
c.1595C>T (p.Thr532Ile)
c.2033C>T (p.Thr678Ile)
n.2203C>T
c.1166C>T (p.Thr389Ile)
n.2075C>T
14g.88610875A=CA2153694402ZC3H14c.2139A= (p.Thr713=)
c.*1347A= (n.*1347A=)
c.1668A= (p.Thr556=)
c.849A= (p.Thr283=)
c.1644A= (p.Thr548=)
c.2064A= (p.Thr688=)
c.777A= (p.Thr259=)
n.982A=
c.2121A= (p.Thr707=)
c.384A= (p.Thr128=)
n.298A=
c.1245A= (p.Thr415=)
c.1883A=
c.1746A= (p.Thr582=)
n.1424A=
c.1191A= (p.Thr397=)
c.2136A= (p.Thr712=)
c.2124A= (p.Thr708=)
c.1743A= (p.Thr581=)
c.1671A= (p.Thr557=)
c.1170A= (p.Thr390=)
c.2037A= (p.Thr679=)
c.1983A= (p.Thr661=)
c.2061A= (p.Thr687=)
c.2046A= (p.Thr682=)
c.1674A= (p.Thr558=)
c.1962A= (p.Thr654=)
c.1566A= (p.Thr522=)
c.1278A= (p.Thr426=)
c.1599A= (p.Thr533=)
c.1512A= (p.Thr504=)
c.1281A= (p.Thr427=)
c.1206A= (p.Thr402=)
c.1203A= (p.Thr401=)
c.2049A= (p.Thr683=)
c.1515A= (p.Thr505=)
c.1596A= (p.Thr532=)
c.2034A= (p.Thr678=)
n.2204A=
c.1167A= (p.Thr389=)
n.2076A=
14g.88610875A>CCA487280426ZC3H14c.2139A>C (p.Thr713=)
c.*1347A>C (n.*1347A>C)
c.1668A>C (p.Thr556=)
c.849A>C (p.Thr283=)
c.1644A>C (p.Thr548=)
c.2064A>C (p.Thr688=)
c.777A>C (p.Thr259=)
n.982A>C
c.2121A>C (p.Thr707=)
c.384A>C (p.Thr128=)
n.298A>C
c.1245A>C (p.Thr415=)
c.1883A>C
c.1746A>C (p.Thr582=)
n.1424A>C
c.1191A>C (p.Thr397=)
c.2136A>C (p.Thr712=)
c.2124A>C (p.Thr708=)
c.1743A>C (p.Thr581=)
c.1671A>C (p.Thr557=)
c.1170A>C (p.Thr390=)
c.2037A>C (p.Thr679=)
c.1983A>C (p.Thr661=)
c.2061A>C (p.Thr687=)
c.2046A>C (p.Thr682=)
c.1674A>C (p.Thr558=)
c.1962A>C (p.Thr654=)
c.1566A>C (p.Thr522=)
c.1278A>C (p.Thr426=)
c.1599A>C (p.Thr533=)
c.1512A>C (p.Thr504=)
c.1281A>C (p.Thr427=)
c.1206A>C (p.Thr402=)
c.1203A>C (p.Thr401=)
c.2049A>C (p.Thr683=)
c.1515A>C (p.Thr505=)
c.1596A>C (p.Thr532=)
c.2034A>C (p.Thr678=)
n.2204A>C
c.1167A>C (p.Thr389=)
n.2076A>C
14g.88610875A>GCA487280427ZC3H14c.2139A>G (p.Thr713=)
c.*1347A>G (n.*1347A>G)
c.1668A>G (p.Thr556=)
c.849A>G (p.Thr283=)
c.1644A>G (p.Thr548=)
c.2064A>G (p.Thr688=)
c.777A>G (p.Thr259=)
n.982A>G
c.2121A>G (p.Thr707=)
c.384A>G (p.Thr128=)
n.298A>G
c.1245A>G (p.Thr415=)
c.1883A>G
c.1746A>G (p.Thr582=)
n.1424A>G
c.1191A>G (p.Thr397=)
c.2136A>G (p.Thr712=)
c.2124A>G (p.Thr708=)
c.1743A>G (p.Thr581=)
c.1671A>G (p.Thr557=)
c.1170A>G (p.Thr390=)
c.2037A>G (p.Thr679=)
c.1983A>G (p.Thr661=)
c.2061A>G (p.Thr687=)
c.2046A>G (p.Thr682=)
c.1674A>G (p.Thr558=)
c.1962A>G (p.Thr654=)
c.1566A>G (p.Thr522=)
c.1278A>G (p.Thr426=)
c.1599A>G (p.Thr533=)
c.1512A>G (p.Thr504=)
c.1281A>G (p.Thr427=)
c.1206A>G (p.Thr402=)
c.1203A>G (p.Thr401=)
c.2049A>G (p.Thr683=)
c.1515A>G (p.Thr505=)
c.1596A>G (p.Thr532=)
c.2034A>G (p.Thr678=)
n.2204A>G
c.1167A>G (p.Thr389=)
n.2076A>G
 dbSNP gnomAD v3 gnomAD v4
14g.88610875A>TCA487280428ZC3H14c.2139A>T (p.Thr713=)
c.*1347A>T (n.*1347A>T)
c.1668A>T (p.Thr556=)
c.849A>T (p.Thr283=)
c.1644A>T (p.Thr548=)
c.2064A>T (p.Thr688=)
c.777A>T (p.Thr259=)
n.982A>T
c.2121A>T (p.Thr707=)
c.384A>T (p.Thr128=)
n.298A>T
c.1245A>T (p.Thr415=)
c.1883A>T
c.1746A>T (p.Thr582=)
n.1424A>T
c.1191A>T (p.Thr397=)
c.2136A>T (p.Thr712=)
c.2124A>T (p.Thr708=)
c.1743A>T (p.Thr581=)
c.1671A>T (p.Thr557=)
c.1170A>T (p.Thr390=)
c.2037A>T (p.Thr679=)
c.1983A>T (p.Thr661=)
c.2061A>T (p.Thr687=)
c.2046A>T (p.Thr682=)
c.1674A>T (p.Thr558=)
c.1962A>T (p.Thr654=)
c.1566A>T (p.Thr522=)
c.1278A>T (p.Thr426=)
c.1599A>T (p.Thr533=)
c.1512A>T (p.Thr504=)
c.1281A>T (p.Thr427=)
c.1206A>T (p.Thr402=)
c.1203A>T (p.Thr401=)
c.2049A>T (p.Thr683=)
c.1515A>T (p.Thr505=)
c.1596A>T (p.Thr532=)
c.2034A>T (p.Thr678=)
n.2204A>T
c.1167A>T (p.Thr389=)
n.2076A>T
14g.88610876T>ACA390565966ZC3H14c.2140T>A (p.Phe714Ile)
c.*1348T>A (n.*1348T>A)
c.1669T>A (p.Phe557Ile)
c.850T>A (p.Phe284Ile)
c.1645T>A (p.Phe549Ile)
c.2065T>A (p.Phe689Ile)
c.778T>A (p.Phe260Ile)
n.983T>A
c.2122T>A (p.Phe708Ile)
c.385T>A (p.Phe129Ile)
n.299T>A
c.1246T>A (p.Phe416Ile)
c.1884T>A
c.1747T>A (p.Phe583Ile)
n.1425T>A
c.1192T>A (p.Phe398Ile)
c.2137T>A (p.Phe713Ile)
c.2125T>A (p.Phe709Ile)
c.1744T>A (p.Phe582Ile)
c.1672T>A (p.Phe558Ile)
c.1171T>A (p.Phe391Ile)
c.2038T>A (p.Phe680Ile)
c.1984T>A (p.Phe662Ile)
c.2062T>A (p.Phe688Ile)
c.2047T>A (p.Phe683Ile)
c.1675T>A (p.Phe559Ile)
c.1963T>A (p.Phe655Ile)
c.1567T>A (p.Phe523Ile)
c.1279T>A (p.Phe427Ile)
c.1600T>A (p.Phe534Ile)
c.1513T>A (p.Phe505Ile)
c.1282T>A (p.Phe428Ile)
c.1207T>A (p.Phe403Ile)
c.1204T>A (p.Phe402Ile)
c.2050T>A (p.Phe684Ile)
c.1516T>A (p.Phe506Ile)
c.1597T>A (p.Phe533Ile)
c.2035T>A (p.Phe679Ile)
n.2205T>A
c.1168T>A (p.Phe390Ile)
n.2077T>A
14g.88610876T>CCA390565972ZC3H14c.2140T>C (p.Phe714Leu)
c.*1348T>C (n.*1348T>C)
c.1669T>C (p.Phe557Leu)
c.850T>C (p.Phe284Leu)
c.1645T>C (p.Phe549Leu)
c.2065T>C (p.Phe689Leu)
c.778T>C (p.Phe260Leu)
n.983T>C
c.2122T>C (p.Phe708Leu)
c.385T>C (p.Phe129Leu)
n.299T>C
c.1246T>C (p.Phe416Leu)
c.1884T>C
c.1747T>C (p.Phe583Leu)
n.1425T>C
c.1192T>C (p.Phe398Leu)
c.2137T>C (p.Phe713Leu)
c.2125T>C (p.Phe709Leu)
c.1744T>C (p.Phe582Leu)
c.1672T>C (p.Phe558Leu)
c.1171T>C (p.Phe391Leu)
c.2038T>C (p.Phe680Leu)
c.1984T>C (p.Phe662Leu)
c.2062T>C (p.Phe688Leu)
c.2047T>C (p.Phe683Leu)
c.1675T>C (p.Phe559Leu)
c.1963T>C (p.Phe655Leu)
c.1567T>C (p.Phe523Leu)
c.1279T>C (p.Phe427Leu)
c.1600T>C (p.Phe534Leu)
c.1513T>C (p.Phe505Leu)
c.1282T>C (p.Phe428Leu)
c.1207T>C (p.Phe403Leu)
c.1204T>C (p.Phe402Leu)
c.2050T>C (p.Phe684Leu)
c.1516T>C (p.Phe506Leu)
c.1597T>C (p.Phe533Leu)
c.2035T>C (p.Phe679Leu)
n.2205T>C
c.1168T>C (p.Phe390Leu)
n.2077T>C
14g.88610876T>GCA390565976ZC3H14c.2140T>G (p.Phe714Val)
c.*1348T>G (n.*1348T>G)
c.1669T>G (p.Phe557Val)
c.850T>G (p.Phe284Val)
c.1645T>G (p.Phe549Val)
c.2065T>G (p.Phe689Val)
c.778T>G (p.Phe260Val)
n.983T>G
c.2122T>G (p.Phe708Val)
c.385T>G (p.Phe129Val)
n.299T>G
c.1246T>G (p.Phe416Val)
c.1884T>G
c.1747T>G (p.Phe583Val)
n.1425T>G
c.1192T>G (p.Phe398Val)
c.2137T>G (p.Phe713Val)
c.2125T>G (p.Phe709Val)
c.1744T>G (p.Phe582Val)
c.1672T>G (p.Phe558Val)
c.1171T>G (p.Phe391Val)
c.2038T>G (p.Phe680Val)
c.1984T>G (p.Phe662Val)
c.2062T>G (p.Phe688Val)
c.2047T>G (p.Phe683Val)
c.1675T>G (p.Phe559Val)
c.1963T>G (p.Phe655Val)
c.1567T>G (p.Phe523Val)
c.1279T>G (p.Phe427Val)
c.1600T>G (p.Phe534Val)
c.1513T>G (p.Phe505Val)
c.1282T>G (p.Phe428Val)
c.1207T>G (p.Phe403Val)
c.1204T>G (p.Phe402Val)
c.2050T>G (p.Phe684Val)
c.1516T>G (p.Phe506Val)
c.1597T>G (p.Phe533Val)
c.2035T>G (p.Phe679Val)
n.2205T>G
c.1168T>G (p.Phe390Val)
n.2077T>G
14g.88610877T>ACA390565981ZC3H14c.2141T>A (p.Phe714Tyr)
c.*1349T>A (n.*1349T>A)
c.1670T>A (p.Phe557Tyr)
c.851T>A (p.Phe284Tyr)
c.1646T>A (p.Phe549Tyr)
c.2066T>A (p.Phe689Tyr)
c.779T>A (p.Phe260Tyr)
n.984T>A
c.2123T>A (p.Phe708Tyr)
c.386T>A (p.Phe129Tyr)
n.300T>A
c.1247T>A (p.Phe416Tyr)
c.1885T>A
c.1748T>A (p.Phe583Tyr)
n.1426T>A
c.1193T>A (p.Phe398Tyr)
c.2138T>A (p.Phe713Tyr)
c.2126T>A (p.Phe709Tyr)
c.1745T>A (p.Phe582Tyr)
c.1673T>A (p.Phe558Tyr)
c.1172T>A (p.Phe391Tyr)
c.2039T>A (p.Phe680Tyr)
c.1985T>A (p.Phe662Tyr)
c.2063T>A (p.Phe688Tyr)
c.2048T>A (p.Phe683Tyr)
c.1676T>A (p.Phe559Tyr)
c.1964T>A (p.Phe655Tyr)
c.1568T>A (p.Phe523Tyr)
c.1280T>A (p.Phe427Tyr)
c.1601T>A (p.Phe534Tyr)
c.1514T>A (p.Phe505Tyr)
c.1283T>A (p.Phe428Tyr)
c.1208T>A (p.Phe403Tyr)
c.1205T>A (p.Phe402Tyr)
c.2051T>A (p.Phe684Tyr)
c.1517T>A (p.Phe506Tyr)
c.1598T>A (p.Phe533Tyr)
c.2036T>A (p.Phe679Tyr)
n.2206T>A
c.1169T>A (p.Phe390Tyr)
n.2078T>A
14g.88610877T>CCA390565983ZC3H14c.2141T>C (p.Phe714Ser)
c.*1349T>C (n.*1349T>C)
c.1670T>C (p.Phe557Ser)
c.851T>C (p.Phe284Ser)
c.1646T>C (p.Phe549Ser)
c.2066T>C (p.Phe689Ser)
c.779T>C (p.Phe260Ser)
n.984T>C
c.2123T>C (p.Phe708Ser)
c.386T>C (p.Phe129Ser)
n.300T>C
c.1247T>C (p.Phe416Ser)
c.1885T>C
c.1748T>C (p.Phe583Ser)
n.1426T>C
c.1193T>C (p.Phe398Ser)
c.2138T>C (p.Phe713Ser)
c.2126T>C (p.Phe709Ser)
c.1745T>C (p.Phe582Ser)
c.1673T>C (p.Phe558Ser)
c.1172T>C (p.Phe391Ser)
c.2039T>C (p.Phe680Ser)
c.1985T>C (p.Phe662Ser)
c.2063T>C (p.Phe688Ser)
c.2048T>C (p.Phe683Ser)
c.1676T>C (p.Phe559Ser)
c.1964T>C (p.Phe655Ser)
c.1568T>C (p.Phe523Ser)
c.1280T>C (p.Phe427Ser)
c.1601T>C (p.Phe534Ser)
c.1514T>C (p.Phe505Ser)
c.1283T>C (p.Phe428Ser)
c.1208T>C (p.Phe403Ser)
c.1205T>C (p.Phe402Ser)
c.2051T>C (p.Phe684Ser)
c.1517T>C (p.Phe506Ser)
c.1598T>C (p.Phe533Ser)
c.2036T>C (p.Phe679Ser)
n.2206T>C
c.1169T>C (p.Phe390Ser)
n.2078T>C
14g.88610877T>GCA390565982ZC3H14c.2141T>G (p.Phe714Cys)
c.*1349T>G (n.*1349T>G)
c.1670T>G (p.Phe557Cys)
c.851T>G (p.Phe284Cys)
c.1646T>G (p.Phe549Cys)
c.2066T>G (p.Phe689Cys)
c.779T>G (p.Phe260Cys)
n.984T>G
c.2123T>G (p.Phe708Cys)
c.386T>G (p.Phe129Cys)
n.300T>G
c.1247T>G (p.Phe416Cys)
c.1885T>G
c.1748T>G (p.Phe583Cys)
n.1426T>G
c.1193T>G (p.Phe398Cys)
c.2138T>G (p.Phe713Cys)
c.2126T>G (p.Phe709Cys)
c.1745T>G (p.Phe582Cys)
c.1673T>G (p.Phe558Cys)
c.1172T>G (p.Phe391Cys)
c.2039T>G (p.Phe680Cys)
c.1985T>G (p.Phe662Cys)
c.2063T>G (p.Phe688Cys)
c.2048T>G (p.Phe683Cys)
c.1676T>G (p.Phe559Cys)
c.1964T>G (p.Phe655Cys)
c.1568T>G (p.Phe523Cys)
c.1280T>G (p.Phe427Cys)
c.1601T>G (p.Phe534Cys)
c.1514T>G (p.Phe505Cys)
c.1283T>G (p.Phe428Cys)
c.1208T>G (p.Phe403Cys)
c.1205T>G (p.Phe402Cys)
c.2051T>G (p.Phe684Cys)
c.1517T>G (p.Phe506Cys)
c.1598T>G (p.Phe533Cys)
c.2036T>G (p.Phe679Cys)
n.2206T>G
c.1169T>G (p.Phe390Cys)
n.2078T>G
14g.88610878C>ACA390565986ZC3H14c.2142C>A (p.Phe714Leu)
c.*1350C>A (n.*1350C>A)
c.1671C>A (p.Phe557Leu)
c.852C>A (p.Phe284Leu)
c.1647C>A (p.Phe549Leu)
c.2067C>A (p.Phe689Leu)
c.780C>A (p.Phe260Leu)
n.985C>A
c.2124C>A (p.Phe708Leu)
c.387C>A (p.Phe129Leu)
n.301C>A
c.1248C>A (p.Phe416Leu)
c.1886C>A
c.1749C>A (p.Phe583Leu)
n.1427C>A
c.1194C>A (p.Phe398Leu)
c.2139C>A (p.Phe713Leu)
c.2127C>A (p.Phe709Leu)
c.1746C>A (p.Phe582Leu)
c.1674C>A (p.Phe558Leu)
c.1173C>A (p.Phe391Leu)
c.2040C>A (p.Phe680Leu)
c.1986C>A (p.Phe662Leu)
c.2064C>A (p.Phe688Leu)
c.2049C>A (p.Phe683Leu)
c.1677C>A (p.Phe559Leu)
c.1965C>A (p.Phe655Leu)
c.1569C>A (p.Phe523Leu)
c.1281C>A (p.Phe427Leu)
c.1602C>A (p.Phe534Leu)
c.1515C>A (p.Phe505Leu)
c.1284C>A (p.Phe428Leu)
c.1209C>A (p.Phe403Leu)
c.1206C>A (p.Phe402Leu)
c.2052C>A (p.Phe684Leu)
c.1518C>A (p.Phe506Leu)
c.1599C>A (p.Phe533Leu)
c.2037C>A (p.Phe679Leu)
n.2207C>A
c.1170C>A (p.Phe390Leu)
n.2079C>A
14g.88610878C>GCA390565989ZC3H14c.2142C>G (p.Phe714Leu)
c.*1350C>G (n.*1350C>G)
c.1671C>G (p.Phe557Leu)
c.852C>G (p.Phe284Leu)
c.1647C>G (p.Phe549Leu)
c.2067C>G (p.Phe689Leu)
c.780C>G (p.Phe260Leu)
n.985C>G
c.2124C>G (p.Phe708Leu)
c.387C>G (p.Phe129Leu)
n.301C>G
c.1248C>G (p.Phe416Leu)
c.1886C>G
c.1749C>G (p.Phe583Leu)
n.1427C>G
c.1194C>G (p.Phe398Leu)
c.2139C>G (p.Phe713Leu)
c.2127C>G (p.Phe709Leu)
c.1746C>G (p.Phe582Leu)
c.1674C>G (p.Phe558Leu)
c.1173C>G (p.Phe391Leu)
c.2040C>G (p.Phe680Leu)
c.1986C>G (p.Phe662Leu)
c.2064C>G (p.Phe688Leu)
c.2049C>G (p.Phe683Leu)
c.1677C>G (p.Phe559Leu)
c.1965C>G (p.Phe655Leu)
c.1569C>G (p.Phe523Leu)
c.1281C>G (p.Phe427Leu)
c.1602C>G (p.Phe534Leu)
c.1515C>G (p.Phe505Leu)
c.1284C>G (p.Phe428Leu)
c.1209C>G (p.Phe403Leu)
c.1206C>G (p.Phe402Leu)
c.2052C>G (p.Phe684Leu)
c.1518C>G (p.Phe506Leu)
c.1599C>G (p.Phe533Leu)
c.2037C>G (p.Phe679Leu)
n.2207C>G
c.1170C>G (p.Phe390Leu)
n.2079C>G
 gnomAD v4 COSMIC COSMIC
14g.88610878C>TCA487280429ZC3H14c.2142C>T (p.Phe714=)
c.*1350C>T (n.*1350C>T)
c.1671C>T (p.Phe557=)
c.852C>T (p.Phe284=)
c.1647C>T (p.Phe549=)
c.2067C>T (p.Phe689=)
c.780C>T (p.Phe260=)
n.985C>T
c.2124C>T (p.Phe708=)
c.387C>T (p.Phe129=)
n.301C>T
c.1248C>T (p.Phe416=)
c.1886C>T
c.1749C>T (p.Phe583=)
n.1427C>T
c.1194C>T (p.Phe398=)
c.2139C>T (p.Phe713=)
c.2127C>T (p.Phe709=)
c.1746C>T (p.Phe582=)
c.1674C>T (p.Phe558=)
c.1173C>T (p.Phe391=)
c.2040C>T (p.Phe680=)
c.1986C>T (p.Phe662=)
c.2064C>T (p.Phe688=)
c.2049C>T (p.Phe683=)
c.1677C>T (p.Phe559=)
c.1965C>T (p.Phe655=)
c.1569C>T (p.Phe523=)
c.1281C>T (p.Phe427=)
c.1602C>T (p.Phe534=)
c.1515C>T (p.Phe505=)
c.1284C>T (p.Phe428=)
c.1209C>T (p.Phe403=)
c.1206C>T (p.Phe402=)
c.2052C>T (p.Phe684=)
c.1518C>T (p.Phe506=)
c.1599C>T (p.Phe533=)
c.2037C>T (p.Phe679=)
n.2207C>T
c.1170C>T (p.Phe390=)
n.2079C>T
 COSMIC COSMIC
14g.88610879T>ACA390566003ZC3H14c.2143T>A (p.Tyr715Asn)
c.*1351T>A (n.*1351T>A)
c.1672T>A (p.Tyr558Asn)
c.853T>A (p.Tyr285Asn)
c.1648T>A (p.Tyr550Asn)
c.2068T>A (p.Tyr690Asn)
c.781T>A (p.Tyr261Asn)
n.986T>A
c.2125T>A (p.Tyr709Asn)
c.388T>A (p.Tyr130Asn)
n.302T>A
c.1249T>A (p.Tyr417Asn)
c.1887T>A
c.1750T>A (p.Tyr584Asn)
n.1428T>A
c.1195T>A (p.Tyr399Asn)
c.2140T>A (p.Tyr714Asn)
c.2128T>A (p.Tyr710Asn)
c.1747T>A (p.Tyr583Asn)
c.1675T>A (p.Tyr559Asn)
c.1174T>A (p.Tyr392Asn)
c.2041T>A (p.Tyr681Asn)
c.1987T>A (p.Tyr663Asn)
c.2065T>A (p.Tyr689Asn)
c.2050T>A (p.Tyr684Asn)
c.1678T>A (p.Tyr560Asn)
c.1966T>A (p.Tyr656Asn)
c.1570T>A (p.Tyr524Asn)
c.1282T>A (p.Tyr428Asn)
c.1603T>A (p.Tyr535Asn)
c.1516T>A (p.Tyr506Asn)
c.1285T>A (p.Tyr429Asn)
c.1210T>A (p.Tyr404Asn)
c.1207T>A (p.Tyr403Asn)
c.2053T>A (p.Tyr685Asn)
c.1519T>A (p.Tyr507Asn)
c.1600T>A (p.Tyr534Asn)
c.2038T>A (p.Tyr680Asn)
n.2208T>A
c.1171T>A (p.Tyr391Asn)
n.2080T>A
14g.88610879T>CCA390566006ZC3H14c.2143T>C (p.Tyr715His)
c.*1351T>C (n.*1351T>C)
c.1672T>C (p.Tyr558His)
c.853T>C (p.Tyr285His)
c.1648T>C (p.Tyr550His)
c.2068T>C (p.Tyr690His)
c.781T>C (p.Tyr261His)
n.986T>C
c.2125T>C (p.Tyr709His)
c.388T>C (p.Tyr130His)
n.302T>C
c.1249T>C (p.Tyr417His)
c.1887T>C
c.1750T>C (p.Tyr584His)
n.1428T>C
c.1195T>C (p.Tyr399His)
c.2140T>C (p.Tyr714His)
c.2128T>C (p.Tyr710His)
c.1747T>C (p.Tyr583His)
c.1675T>C (p.Tyr559His)
c.1174T>C (p.Tyr392His)
c.2041T>C (p.Tyr681His)
c.1987T>C (p.Tyr663His)
c.2065T>C (p.Tyr689His)
c.2050T>C (p.Tyr684His)
c.1678T>C (p.Tyr560His)
c.1966T>C (p.Tyr656His)
c.1570T>C (p.Tyr524His)
c.1282T>C (p.Tyr428His)
c.1603T>C (p.Tyr535His)
c.1516T>C (p.Tyr506His)
c.1285T>C (p.Tyr429His)
c.1210T>C (p.Tyr404His)
c.1207T>C (p.Tyr403His)
c.2053T>C (p.Tyr685His)
c.1519T>C (p.Tyr507His)
c.1600T>C (p.Tyr534His)
c.2038T>C (p.Tyr680His)
n.2208T>C
c.1171T>C (p.Tyr391His)
n.2080T>C
14g.88610879T>GCA390566010ZC3H14c.2143T>G (p.Tyr715Asp)
c.*1351T>G (n.*1351T>G)
c.1672T>G (p.Tyr558Asp)
c.853T>G (p.Tyr285Asp)
c.1648T>G (p.Tyr550Asp)
c.2068T>G (p.Tyr690Asp)
c.781T>G (p.Tyr261Asp)
n.986T>G
c.2125T>G (p.Tyr709Asp)
c.388T>G (p.Tyr130Asp)
n.302T>G
c.1249T>G (p.Tyr417Asp)
c.1887T>G
c.1750T>G (p.Tyr584Asp)
n.1428T>G
c.1195T>G (p.Tyr399Asp)
c.2140T>G (p.Tyr714Asp)
c.2128T>G (p.Tyr710Asp)
c.1747T>G (p.Tyr583Asp)
c.1675T>G (p.Tyr559Asp)
c.1174T>G (p.Tyr392Asp)
c.2041T>G (p.Tyr681Asp)
c.1987T>G (p.Tyr663Asp)
c.2065T>G (p.Tyr689Asp)
c.2050T>G (p.Tyr684Asp)
c.1678T>G (p.Tyr560Asp)
c.1966T>G (p.Tyr656Asp)
c.1570T>G (p.Tyr524Asp)
c.1282T>G (p.Tyr428Asp)
c.1603T>G (p.Tyr535Asp)
c.1516T>G (p.Tyr506Asp)
c.1285T>G (p.Tyr429Asp)
c.1210T>G (p.Tyr404Asp)
c.1207T>G (p.Tyr403Asp)
c.2053T>G (p.Tyr685Asp)
c.1519T>G (p.Tyr507Asp)
c.1600T>G (p.Tyr534Asp)
c.2038T>G (p.Tyr680Asp)
n.2208T>G
c.1171T>G (p.Tyr391Asp)
n.2080T>G
14g.88610880A=CA2153694403ZC3H14c.2144A= (p.Tyr715=)
c.*1352A= (n.*1352A=)
c.1673A= (p.Tyr558=)
c.854A= (p.Tyr285=)
c.1649A= (p.Tyr550=)
c.2069A= (p.Tyr690=)
c.782A= (p.Tyr261=)
n.987A=
c.2126A= (p.Tyr709=)
c.389A= (p.Tyr130=)
n.303A=
c.1250A= (p.Tyr417=)
c.1888A=
c.1751A= (p.Tyr584=)
n.1429A=
c.1196A= (p.Tyr399=)
c.2141A= (p.Tyr714=)
c.2129A= (p.Tyr710=)
c.1748A= (p.Tyr583=)
c.1676A= (p.Tyr559=)
c.1175A= (p.Tyr392=)
c.2042A= (p.Tyr681=)
c.1988A= (p.Tyr663=)
c.2066A= (p.Tyr689=)
c.2051A= (p.Tyr684=)
c.1679A= (p.Tyr560=)
c.1967A= (p.Tyr656=)
c.1571A= (p.Tyr524=)
c.1283A= (p.Tyr428=)
c.1604A= (p.Tyr535=)
c.1517A= (p.Tyr506=)
c.1286A= (p.Tyr429=)
c.1211A= (p.Tyr404=)
c.1208A= (p.Tyr403=)
c.2054A= (p.Tyr685=)
c.1520A= (p.Tyr507=)
c.1601A= (p.Tyr534=)
c.2039A= (p.Tyr680=)
n.2209A=
c.1172A= (p.Tyr391=)
n.2081A=
14g.88610880A>CCA390566014ZC3H14c.2144A>C (p.Tyr715Ser)
c.*1352A>C (n.*1352A>C)
c.1673A>C (p.Tyr558Ser)
c.854A>C (p.Tyr285Ser)
c.1649A>C (p.Tyr550Ser)
c.2069A>C (p.Tyr690Ser)
c.782A>C (p.Tyr261Ser)
n.987A>C
c.2126A>C (p.Tyr709Ser)
c.389A>C (p.Tyr130Ser)
n.303A>C
c.1250A>C (p.Tyr417Ser)
c.1888A>C
c.1751A>C (p.Tyr584Ser)
n.1429A>C
c.1196A>C (p.Tyr399Ser)
c.2141A>C (p.Tyr714Ser)
c.2129A>C (p.Tyr710Ser)
c.1748A>C (p.Tyr583Ser)
c.1676A>C (p.Tyr559Ser)
c.1175A>C (p.Tyr392Ser)
c.2042A>C (p.Tyr681Ser)
c.1988A>C (p.Tyr663Ser)
c.2066A>C (p.Tyr689Ser)
c.2051A>C (p.Tyr684Ser)
c.1679A>C (p.Tyr560Ser)
c.1967A>C (p.Tyr656Ser)
c.1571A>C (p.Tyr524Ser)
c.1283A>C (p.Tyr428Ser)
c.1604A>C (p.Tyr535Ser)
c.1517A>C (p.Tyr506Ser)
c.1286A>C (p.Tyr429Ser)
c.1211A>C (p.Tyr404Ser)
c.1208A>C (p.Tyr403Ser)
c.2054A>C (p.Tyr685Ser)
c.1520A>C (p.Tyr507Ser)
c.1601A>C (p.Tyr534Ser)
c.2039A>C (p.Tyr680Ser)
n.2209A>C
c.1172A>C (p.Tyr391Ser)
n.2081A>C
14g.88610880A>GCA390566017ZC3H14c.2144A>G (p.Tyr715Cys)
c.*1352A>G (n.*1352A>G)
c.1673A>G (p.Tyr558Cys)
c.854A>G (p.Tyr285Cys)
c.1649A>G (p.Tyr550Cys)
c.2069A>G (p.Tyr690Cys)
c.782A>G (p.Tyr261Cys)
n.987A>G
c.2126A>G (p.Tyr709Cys)
c.389A>G (p.Tyr130Cys)
n.303A>G
c.1250A>G (p.Tyr417Cys)
c.1888A>G
c.1751A>G (p.Tyr584Cys)
n.1429A>G
c.1196A>G (p.Tyr399Cys)
c.2141A>G (p.Tyr714Cys)
c.2129A>G (p.Tyr710Cys)
c.1748A>G (p.Tyr583Cys)
c.1676A>G (p.Tyr559Cys)
c.1175A>G (p.Tyr392Cys)
c.2042A>G (p.Tyr681Cys)
c.1988A>G (p.Tyr663Cys)
c.2066A>G (p.Tyr689Cys)
c.2051A>G (p.Tyr684Cys)
c.1679A>G (p.Tyr560Cys)
c.1967A>G (p.Tyr656Cys)
c.1571A>G (p.Tyr524Cys)
c.1283A>G (p.Tyr428Cys)
c.1604A>G (p.Tyr535Cys)
c.1517A>G (p.Tyr506Cys)
c.1286A>G (p.Tyr429Cys)
c.1211A>G (p.Tyr404Cys)
c.1208A>G (p.Tyr403Cys)
c.2054A>G (p.Tyr685Cys)
c.1520A>G (p.Tyr507Cys)
c.1601A>G (p.Tyr534Cys)
c.2039A>G (p.Tyr680Cys)
n.2209A>G
c.1172A>G (p.Tyr391Cys)
n.2081A>G
 dbSNP gnomAD v2 gnomAD v4
14g.88610880A>TCA390566025ZC3H14c.2144A>T (p.Tyr715Phe)
c.*1352A>T (n.*1352A>T)
c.1673A>T (p.Tyr558Phe)
c.854A>T (p.Tyr285Phe)
c.1649A>T (p.Tyr550Phe)
c.2069A>T (p.Tyr690Phe)
c.782A>T (p.Tyr261Phe)
n.987A>T
c.2126A>T (p.Tyr709Phe)
c.389A>T (p.Tyr130Phe)
n.303A>T
c.1250A>T (p.Tyr417Phe)
c.1888A>T
c.1751A>T (p.Tyr584Phe)
n.1429A>T
c.1196A>T (p.Tyr399Phe)
c.2141A>T (p.Tyr714Phe)
c.2129A>T (p.Tyr710Phe)
c.1748A>T (p.Tyr583Phe)
c.1676A>T (p.Tyr559Phe)
c.1175A>T (p.Tyr392Phe)
c.2042A>T (p.Tyr681Phe)
c.1988A>T (p.Tyr663Phe)
c.2066A>T (p.Tyr689Phe)
c.2051A>T (p.Tyr684Phe)
c.1679A>T (p.Tyr560Phe)
c.1967A>T (p.Tyr656Phe)
c.1571A>T (p.Tyr524Phe)
c.1283A>T (p.Tyr428Phe)
c.1604A>T (p.Tyr535Phe)
c.1517A>T (p.Tyr506Phe)
c.1286A>T (p.Tyr429Phe)
c.1211A>T (p.Tyr404Phe)
c.1208A>T (p.Tyr403Phe)
c.2054A>T (p.Tyr685Phe)
c.1520A>T (p.Tyr507Phe)
c.1601A>T (p.Tyr534Phe)
c.2039A>T (p.Tyr680Phe)
n.2209A>T
c.1172A>T (p.Tyr391Phe)
n.2081A>T
14g.88610881C>ACA390566028ZC3H14c.2145C>A (p.Tyr715Ter)
c.*1353C>A (n.*1353C>A)
c.1674C>A (p.Tyr558Ter)
c.855C>A (p.Tyr285Ter)
c.1650C>A (p.Tyr550Ter)
c.2070C>A (p.Tyr690Ter)
c.783C>A (p.Tyr261Ter)
n.988C>A
c.2127C>A (p.Tyr709Ter)
c.390C>A (p.Tyr130Ter)
n.304C>A
c.1251C>A (p.Tyr417Ter)
c.1889C>A
c.1752C>A (p.Tyr584Ter)
n.1430C>A
c.1197C>A (p.Tyr399Ter)
c.2142C>A (p.Tyr714Ter)
c.2130C>A (p.Tyr710Ter)
c.1749C>A (p.Tyr583Ter)
c.1677C>A (p.Tyr559Ter)
c.1176C>A (p.Tyr392Ter)
c.2043C>A (p.Tyr681Ter)
c.1989C>A (p.Tyr663Ter)
c.2067C>A (p.Tyr689Ter)
c.2052C>A (p.Tyr684Ter)
c.1680C>A (p.Tyr560Ter)
c.1968C>A (p.Tyr656Ter)
c.1572C>A (p.Tyr524Ter)
c.1284C>A (p.Tyr428Ter)
c.1605C>A (p.Tyr535Ter)
c.1518C>A (p.Tyr506Ter)
c.1287C>A (p.Tyr429Ter)
c.1212C>A (p.Tyr404Ter)
c.1209C>A (p.Tyr403Ter)
c.2055C>A (p.Tyr685Ter)
c.1521C>A (p.Tyr507Ter)
c.1602C>A (p.Tyr534Ter)
c.2040C>A (p.Tyr680Ter)
n.2210C>A
c.1173C>A (p.Tyr391Ter)
n.2082C>A
14g.88610881C>GCA390566032ZC3H14c.2145C>G (p.Tyr715Ter)
c.*1353C>G (n.*1353C>G)
c.1674C>G (p.Tyr558Ter)
c.855C>G (p.Tyr285Ter)
c.1650C>G (p.Tyr550Ter)
c.2070C>G (p.Tyr690Ter)
c.783C>G (p.Tyr261Ter)
n.988C>G
c.2127C>G (p.Tyr709Ter)
c.390C>G (p.Tyr130Ter)
n.304C>G
c.1251C>G (p.Tyr417Ter)
c.1889C>G
c.1752C>G (p.Tyr584Ter)
n.1430C>G
c.1197C>G (p.Tyr399Ter)
c.2142C>G (p.Tyr714Ter)
c.2130C>G (p.Tyr710Ter)
c.1749C>G (p.Tyr583Ter)
c.1677C>G (p.Tyr559Ter)
c.1176C>G (p.Tyr392Ter)
c.2043C>G (p.Tyr681Ter)
c.1989C>G (p.Tyr663Ter)
c.2067C>G (p.Tyr689Ter)
c.2052C>G (p.Tyr684Ter)
c.1680C>G (p.Tyr560Ter)
c.1968C>G (p.Tyr656Ter)
c.1572C>G (p.Tyr524Ter)
c.1284C>G (p.Tyr428Ter)
c.1605C>G (p.Tyr535Ter)
c.1518C>G (p.Tyr506Ter)
c.1287C>G (p.Tyr429Ter)
c.1212C>G (p.Tyr404Ter)
c.1209C>G (p.Tyr403Ter)
c.2055C>G (p.Tyr685Ter)
c.1521C>G (p.Tyr507Ter)
c.1602C>G (p.Tyr534Ter)
c.2040C>G (p.Tyr680Ter)
n.2210C>G
c.1173C>G (p.Tyr391Ter)
n.2082C>G
14g.88610881C>TCA487280430ZC3H14c.2145C>T (p.Tyr715=)
c.*1353C>T (n.*1353C>T)
c.1674C>T (p.Tyr558=)
c.855C>T (p.Tyr285=)
c.1650C>T (p.Tyr550=)
c.2070C>T (p.Tyr690=)
c.783C>T (p.Tyr261=)
n.988C>T
c.2127C>T (p.Tyr709=)
c.390C>T (p.Tyr130=)
n.304C>T
c.1251C>T (p.Tyr417=)
c.1889C>T
c.1752C>T (p.Tyr584=)
n.1430C>T
c.1197C>T (p.Tyr399=)
c.2142C>T (p.Tyr714=)
c.2130C>T (p.Tyr710=)
c.1749C>T (p.Tyr583=)
c.1677C>T (p.Tyr559=)
c.1176C>T (p.Tyr392=)
c.2043C>T (p.Tyr681=)
c.1989C>T (p.Tyr663=)
c.2067C>T (p.Tyr689=)
c.2052C>T (p.Tyr684=)
c.1680C>T (p.Tyr560=)
c.1968C>T (p.Tyr656=)
c.1572C>T (p.Tyr524=)
c.1284C>T (p.Tyr428=)
c.1605C>T (p.Tyr535=)
c.1518C>T (p.Tyr506=)
c.1287C>T (p.Tyr429=)
c.1212C>T (p.Tyr404=)
c.1209C>T (p.Tyr403=)
c.2055C>T (p.Tyr685=)
c.1521C>T (p.Tyr507=)
c.1602C>T (p.Tyr534=)
c.2040C>T (p.Tyr680=)
n.2210C>T
c.1173C>T (p.Tyr391=)
n.2082C>T
14g.88610882C>ACA390566042ZC3H14c.2146C>A (p.His716Asn)
c.*1354C>A (n.*1354C>A)
c.1675C>A (p.His559Asn)
c.856C>A (p.His286Asn)
c.1651C>A (p.His551Asn)
c.2071C>A (p.His691Asn)
c.784C>A (p.His262Asn)
n.989C>A
c.2128C>A (p.His710Asn)
c.391C>A (p.His131Asn)
n.305C>A
c.1252C>A (p.His418Asn)
c.1890C>A
c.1753C>A (p.His585Asn)
n.1431C>A
c.1198C>A (p.His400Asn)
c.2143C>A (p.His715Asn)
c.2131C>A (p.His711Asn)
c.1750C>A (p.His584Asn)
c.1678C>A (p.His560Asn)
c.1177C>A (p.His393Asn)
c.2044C>A (p.His682Asn)
c.1990C>A (p.His664Asn)
c.2068C>A (p.His690Asn)
c.2053C>A (p.His685Asn)
c.1681C>A (p.His561Asn)
c.1969C>A (p.His657Asn)
c.1573C>A (p.His525Asn)
c.1285C>A (p.His429Asn)
c.1606C>A (p.His536Asn)
c.1519C>A (p.His507Asn)
c.1288C>A (p.His430Asn)
c.1213C>A (p.His405Asn)
c.1210C>A (p.His404Asn)
c.2056C>A (p.His686Asn)
c.1522C>A (p.His508Asn)
c.1603C>A (p.His535Asn)
c.2041C>A (p.His681Asn)
n.2211C>A
c.1174C>A (p.His392Asn)
n.2083C>A
14g.88610882C>GCA390566045ZC3H14c.2146C>G (p.His716Asp)
c.*1354C>G (n.*1354C>G)
c.1675C>G (p.His559Asp)
c.856C>G (p.His286Asp)
c.1651C>G (p.His551Asp)
c.2071C>G (p.His691Asp)
c.784C>G (p.His262Asp)
n.989C>G
c.2128C>G (p.His710Asp)
c.391C>G (p.His131Asp)
n.305C>G
c.1252C>G (p.His418Asp)
c.1890C>G
c.1753C>G (p.His585Asp)
n.1431C>G
c.1198C>G (p.His400Asp)
c.2143C>G (p.His715Asp)
c.2131C>G (p.His711Asp)
c.1750C>G (p.His584Asp)
c.1678C>G (p.His560Asp)
c.1177C>G (p.His393Asp)
c.2044C>G (p.His682Asp)
c.1990C>G (p.His664Asp)
c.2068C>G (p.His690Asp)
c.2053C>G (p.His685Asp)
c.1681C>G (p.His561Asp)
c.1969C>G (p.His657Asp)
c.1573C>G (p.His525Asp)
c.1285C>G (p.His429Asp)
c.1606C>G (p.His536Asp)
c.1519C>G (p.His507Asp)
c.1288C>G (p.His430Asp)
c.1213C>G (p.His405Asp)
c.1210C>G (p.His404Asp)
c.2056C>G (p.His686Asp)
c.1522C>G (p.His508Asp)
c.1603C>G (p.His535Asp)
c.2041C>G (p.His681Asp)
n.2211C>G
c.1174C>G (p.His392Asp)
n.2083C>G
14g.88610882C>TCA390566044ZC3H14c.2146C>T (p.His716Tyr)
c.*1354C>T (n.*1354C>T)
c.1675C>T (p.His559Tyr)
c.856C>T (p.His286Tyr)
c.1651C>T (p.His551Tyr)
c.2071C>T (p.His691Tyr)
c.784C>T (p.His262Tyr)
n.989C>T
c.2128C>T (p.His710Tyr)
c.391C>T (p.His131Tyr)
n.305C>T
c.1252C>T (p.His418Tyr)
c.1890C>T
c.1753C>T (p.His585Tyr)
n.1431C>T
c.1198C>T (p.His400Tyr)
c.2143C>T (p.His715Tyr)
c.2131C>T (p.His711Tyr)
c.1750C>T (p.His584Tyr)
c.1678C>T (p.His560Tyr)
c.1177C>T (p.His393Tyr)
c.2044C>T (p.His682Tyr)
c.1990C>T (p.His664Tyr)
c.2068C>T (p.His690Tyr)
c.2053C>T (p.His685Tyr)
c.1681C>T (p.His561Tyr)
c.1969C>T (p.His657Tyr)
c.1573C>T (p.His525Tyr)
c.1285C>T (p.His429Tyr)
c.1606C>T (p.His536Tyr)
c.1519C>T (p.His507Tyr)
c.1288C>T (p.His430Tyr)
c.1213C>T (p.His405Tyr)
c.1210C>T (p.His404Tyr)
c.2056C>T (p.His686Tyr)
c.1522C>T (p.His508Tyr)
c.1603C>T (p.His535Tyr)
c.2041C>T (p.His681Tyr)
n.2211C>T
c.1174C>T (p.His392Tyr)
n.2083C>T
14g.88610883A=CA2153694404ZC3H14c.2147A= (p.His716=)
c.*1355A= (n.*1355A=)
c.1676A= (p.His559=)
c.857A= (p.His286=)
c.1652A= (p.His551=)
c.2072A= (p.His691=)
c.785A= (p.His262=)
n.990A=
c.2129A= (p.His710=)
c.392A= (p.His131=)
n.306A=
c.1253A= (p.His418=)
c.1891A=
c.1754A= (p.His585=)
n.1432A=
c.1199A= (p.His400=)
c.2144A= (p.His715=)
c.2132A= (p.His711=)
c.1751A= (p.His584=)
c.1679A= (p.His560=)
c.1178A= (p.His393=)
c.2045A= (p.His682=)
c.1991A= (p.His664=)
c.2069A= (p.His690=)
c.2054A= (p.His685=)
c.1682A= (p.His561=)
c.1970A= (p.His657=)
c.1574A= (p.His525=)
c.1286A= (p.His429=)
c.1607A= (p.His536=)
c.1520A= (p.His507=)
c.1289A= (p.His430=)
c.1214A= (p.His405=)
c.1211A= (p.His404=)
c.2057A= (p.His686=)
c.1523A= (p.His508=)
c.1604A= (p.His535=)
c.2042A= (p.His681=)
n.2212A=
c.1175A= (p.His392=)
n.2084A=
14g.88610883A>CCA390566046ZC3H14c.2147A>C (p.His716Pro)
c.*1355A>C (n.*1355A>C)
c.1676A>C (p.His559Pro)
c.857A>C (p.His286Pro)
c.1652A>C (p.His551Pro)
c.2072A>C (p.His691Pro)
c.785A>C (p.His262Pro)
n.990A>C
c.2129A>C (p.His710Pro)
c.392A>C (p.His131Pro)
n.306A>C
c.1253A>C (p.His418Pro)
c.1891A>C
c.1754A>C (p.His585Pro)
n.1432A>C
c.1199A>C (p.His400Pro)
c.2144A>C (p.His715Pro)
c.2132A>C (p.His711Pro)
c.1751A>C (p.His584Pro)
c.1679A>C (p.His560Pro)
c.1178A>C (p.His393Pro)
c.2045A>C (p.His682Pro)
c.1991A>C (p.His664Pro)
c.2069A>C (p.His690Pro)
c.2054A>C (p.His685Pro)
c.1682A>C (p.His561Pro)
c.1970A>C (p.His657Pro)
c.1574A>C (p.His525Pro)
c.1286A>C (p.His429Pro)
c.1607A>C (p.His536Pro)
c.1520A>C (p.His507Pro)
c.1289A>C (p.His430Pro)
c.1214A>C (p.His405Pro)
c.1211A>C (p.His404Pro)
c.2057A>C (p.His686Pro)
c.1523A>C (p.His508Pro)
c.1604A>C (p.His535Pro)
c.2042A>C (p.His681Pro)
n.2212A>C
c.1175A>C (p.His392Pro)
n.2084A>C
14g.88610883A>GCA390566050ZC3H14c.2147A>G (p.His716Arg)
c.*1355A>G (n.*1355A>G)
c.1676A>G (p.His559Arg)
c.857A>G (p.His286Arg)
c.1652A>G (p.His551Arg)
c.2072A>G (p.His691Arg)
c.785A>G (p.His262Arg)
n.990A>G
c.2129A>G (p.His710Arg)
c.392A>G (p.His131Arg)
n.306A>G
c.1253A>G (p.His418Arg)
c.1891A>G
c.1754A>G (p.His585Arg)
n.1432A>G
c.1199A>G (p.His400Arg)
c.2144A>G (p.His715Arg)
c.2132A>G (p.His711Arg)
c.1751A>G (p.His584Arg)
c.1679A>G (p.His560Arg)
c.1178A>G (p.His393Arg)
c.2045A>G (p.His682Arg)
c.1991A>G (p.His664Arg)
c.2069A>G (p.His690Arg)
c.2054A>G (p.His685Arg)
c.1682A>G (p.His561Arg)
c.1970A>G (p.His657Arg)
c.1574A>G (p.His525Arg)
c.1286A>G (p.His429Arg)
c.1607A>G (p.His536Arg)
c.1520A>G (p.His507Arg)
c.1289A>G (p.His430Arg)
c.1214A>G (p.His405Arg)
c.1211A>G (p.His404Arg)
c.2057A>G (p.His686Arg)
c.1523A>G (p.His508Arg)
c.1604A>G (p.His535Arg)
c.2042A>G (p.His681Arg)
n.2212A>G
c.1175A>G (p.His392Arg)
n.2084A>G
14g.88610883A>TCA390566047ZC3H14c.2147A>T (p.His716Leu)
c.*1355A>T (n.*1355A>T)
c.1676A>T (p.His559Leu)
c.857A>T (p.His286Leu)
c.1652A>T (p.His551Leu)
c.2072A>T (p.His691Leu)
c.785A>T (p.His262Leu)
n.990A>T
c.2129A>T (p.His710Leu)
c.392A>T (p.His131Leu)
n.306A>T
c.1253A>T (p.His418Leu)
c.1891A>T
c.1754A>T (p.His585Leu)
n.1432A>T
c.1199A>T (p.His400Leu)
c.2144A>T (p.His715Leu)
c.2132A>T (p.His711Leu)
c.1751A>T (p.His584Leu)
c.1679A>T (p.His560Leu)
c.1178A>T (p.His393Leu)
c.2045A>T (p.His682Leu)
c.1991A>T (p.His664Leu)
c.2069A>T (p.His690Leu)
c.2054A>T (p.His685Leu)
c.1682A>T (p.His561Leu)
c.1970A>T (p.His657Leu)
c.1574A>T (p.His525Leu)
c.1286A>T (p.His429Leu)
c.1607A>T (p.His536Leu)
c.1520A>T (p.His507Leu)
c.1289A>T (p.His430Leu)
c.1214A>T (p.His405Leu)
c.1211A>T (p.His404Leu)
c.2057A>T (p.His686Leu)
c.1523A>T (p.His508Leu)
c.1604A>T (p.His535Leu)
c.2042A>T (p.His681Leu)
n.2212A>T
c.1175A>T (p.His392Leu)
n.2084A>T
 dbSNP
14g.88610883_88610896delCA2626010434ZC3H14c.2147_2160del (p.His716ArgfsTer?)
c.*1355_*1368del (n.*1355_*1368del)
c.1676_1689del (p.His559ArgfsTer?)
c.857_870del (p.His286ArgfsTer?)
c.1652_1665del (p.His551ArgfsTer?)
c.2072_2085del (p.His691ArgfsTer?)
c.785_798del (p.His262ArgfsTer?)
n.990_1003del
c.2129_2142del (p.His710ArgfsTer?)
c.392_405del (p.His131ArgfsTer?)
n.306_319del
c.1253_1266del (p.His418ArgfsTer?)
c.1891_1904del
c.1754_1767del (p.His585ArgfsTer?)
n.1432_1445del
c.1199_1212del (p.His400ArgfsTer?)
c.2144_2157del (p.His715ArgfsTer?)
c.2132_2145del (p.His711ArgfsTer?)
c.1751_1764del (p.His584ArgfsTer?)
c.1679_1692del (p.His560ArgfsTer?)
c.1178_1191del (p.His393ArgfsTer?)
c.2045_2058del (p.His682ArgfsTer?)
c.1991_2004del (p.His664ArgfsTer?)
c.2069_2082del (p.His690ArgfsTer?)
c.2054_2067del (p.His685ArgfsTer?)
c.1682_1695del (p.His561ArgfsTer?)
c.1970_1983del (p.His657ArgfsTer?)
c.1574_1587del (p.His525ArgfsTer?)
c.1286_1299del (p.His429ArgfsTer?)
c.1607_1620del (p.His536ArgfsTer?)
c.1520_1533del (p.His507ArgfsTer?)
c.1289_1302del (p.His430ArgfsTer?)
c.1214_1227del (p.His405ArgfsTer?)
c.1211_1224del (p.His404ArgfsTer?)
c.2057_2070del (p.His686ArgfsTer?)
c.1523_1536del (p.His508ArgfsTer?)
c.1604_1617del (p.His535ArgfsTer?)
c.2042_2055del (p.His681ArgfsTer?)
n.2212_2225del
c.1175_1188del (p.His392ArgfsTer?)
n.2084_2097del
 gnomAD v4
14g.88610884T>ACA390566056ZC3H14c.2148T>A (p.His716Gln)
c.*1356T>A (n.*1356T>A)
c.1677T>A (p.His559Gln)
c.858T>A (p.His286Gln)
c.1653T>A (p.His551Gln)
c.2073T>A (p.His691Gln)
c.786T>A (p.His262Gln)
n.991T>A
c.2130T>A (p.His710Gln)
c.393T>A (p.His131Gln)
n.307T>A
c.1254T>A (p.His418Gln)
c.1892T>A
c.1755T>A (p.His585Gln)
n.1433T>A
c.1200T>A (p.His400Gln)
c.2145T>A (p.His715Gln)
c.2133T>A (p.His711Gln)
c.1752T>A (p.His584Gln)
c.1680T>A (p.His560Gln)
c.1179T>A (p.His393Gln)
c.2046T>A (p.His682Gln)
c.1992T>A (p.His664Gln)
c.2070T>A (p.His690Gln)
c.2055T>A (p.His685Gln)
c.1683T>A (p.His561Gln)
c.1971T>A (p.His657Gln)
c.1575T>A (p.His525Gln)
c.1287T>A (p.His429Gln)
c.1608T>A (p.His536Gln)
c.1521T>A (p.His507Gln)
c.1290T>A (p.His430Gln)
c.1215T>A (p.His405Gln)
c.1212T>A (p.His404Gln)
c.2058T>A (p.His686Gln)
c.1524T>A (p.His508Gln)
c.1605T>A (p.His535Gln)
c.2043T>A (p.His681Gln)
n.2213T>A
c.1176T>A (p.His392Gln)
n.2085T>A
14g.88610884T>CCA487280431ZC3H14c.2148T>C (p.His716=)
c.*1356T>C (n.*1356T>C)
c.1677T>C (p.His559=)
c.858T>C (p.His286=)
c.1653T>C (p.His551=)
c.2073T>C (p.His691=)
c.786T>C (p.His262=)
n.991T>C
c.2130T>C (p.His710=)
c.393T>C (p.His131=)
n.307T>C
c.1254T>C (p.His418=)
c.1892T>C
c.1755T>C (p.His585=)
n.1433T>C
c.1200T>C (p.His400=)
c.2145T>C (p.His715=)
c.2133T>C (p.His711=)
c.1752T>C (p.His584=)
c.1680T>C (p.His560=)
c.1179T>C (p.His393=)
c.2046T>C (p.His682=)
c.1992T>C (p.His664=)
c.2070T>C (p.His690=)
c.2055T>C (p.His685=)
c.1683T>C (p.His561=)
c.1971T>C (p.His657=)
c.1575T>C (p.His525=)
c.1287T>C (p.His429=)
c.1608T>C (p.His536=)
c.1521T>C (p.His507=)
c.1290T>C (p.His430=)
c.1215T>C (p.His405=)
c.1212T>C (p.His404=)
c.2058T>C (p.His686=)
c.1524T>C (p.His508=)
c.1605T>C (p.His535=)
c.2043T>C (p.His681=)
n.2213T>C
c.1176T>C (p.His392=)
n.2085T>C
14g.88610884T>GCA390566061ZC3H14c.2148T>G (p.His716Gln)
c.*1356T>G (n.*1356T>G)
c.1677T>G (p.His559Gln)
c.858T>G (p.His286Gln)
c.1653T>G (p.His551Gln)
c.2073T>G (p.His691Gln)
c.786T>G (p.His262Gln)
n.991T>G
c.2130T>G (p.His710Gln)
c.393T>G (p.His131Gln)
n.307T>G
c.1254T>G (p.His418Gln)
c.1892T>G
c.1755T>G (p.His585Gln)
n.1433T>G
c.1200T>G (p.His400Gln)
c.2145T>G (p.His715Gln)
c.2133T>G (p.His711Gln)
c.1752T>G (p.His584Gln)
c.1680T>G (p.His560Gln)
c.1179T>G (p.His393Gln)
c.2046T>G (p.His682Gln)
c.1992T>G (p.His664Gln)
c.2070T>G (p.His690Gln)
c.2055T>G (p.His685Gln)
c.1683T>G (p.His561Gln)
c.1971T>G (p.His657Gln)
c.1575T>G (p.His525Gln)
c.1287T>G (p.His429Gln)
c.1608T>G (p.His536Gln)
c.1521T>G (p.His507Gln)
c.1290T>G (p.His430Gln)
c.1215T>G (p.His405Gln)
c.1212T>G (p.His404Gln)
c.2058T>G (p.His686Gln)
c.1524T>G (p.His508Gln)
c.1605T>G (p.His535Gln)
c.2043T>G (p.His681Gln)
n.2213T>G
c.1176T>G (p.His392Gln)
n.2085T>G
14g.88610885C>ACA390566064ZC3H14c.2149C>A (p.Pro717Thr)
c.*1357C>A (n.*1357C>A)
c.1678C>A (p.Pro560Thr)
c.859C>A (p.Pro287Thr)
c.1654C>A (p.Pro552Thr)
c.2074C>A (p.Pro692Thr)
c.787C>A (p.Pro263Thr)
n.992C>A
c.2131C>A (p.Pro711Thr)
c.394C>A (p.Pro132Thr)
n.308C>A
c.1255C>A (p.Pro419Thr)
c.1893C>A
c.1756C>A (p.Pro586Thr)
n.1434C>A
c.1201C>A (p.Pro401Thr)
c.2146C>A (p.Pro716Thr)
c.2134C>A (p.Pro712Thr)
c.1753C>A (p.Pro585Thr)
c.1681C>A (p.Pro561Thr)
c.1180C>A (p.Pro394Thr)
c.2047C>A (p.Pro683Thr)
c.1993C>A (p.Pro665Thr)
c.2071C>A (p.Pro691Thr)
c.2056C>A (p.Pro686Thr)
c.1684C>A (p.Pro562Thr)
c.1972C>A (p.Pro658Thr)
c.1576C>A (p.Pro526Thr)
c.1288C>A (p.Pro430Thr)
c.1609C>A (p.Pro537Thr)
c.1522C>A (p.Pro508Thr)
c.1291C>A (p.Pro431Thr)
c.1216C>A (p.Pro406Thr)
c.1213C>A (p.Pro405Thr)
c.2059C>A (p.Pro687Thr)
c.1525C>A (p.Pro509Thr)
c.1606C>A (p.Pro536Thr)
c.2044C>A (p.Pro682Thr)
n.2214C>A
c.1177C>A (p.Pro393Thr)
n.2086C>A
14g.88610885C>GCA390566067ZC3H14c.2149C>G (p.Pro717Ala)
c.*1357C>G (n.*1357C>G)
c.1678C>G (p.Pro560Ala)
c.859C>G (p.Pro287Ala)
c.1654C>G (p.Pro552Ala)
c.2074C>G (p.Pro692Ala)
c.787C>G (p.Pro263Ala)
n.992C>G
c.2131C>G (p.Pro711Ala)
c.394C>G (p.Pro132Ala)
n.308C>G
c.1255C>G (p.Pro419Ala)
c.1893C>G
c.1756C>G (p.Pro586Ala)
n.1434C>G
c.1201C>G (p.Pro401Ala)
c.2146C>G (p.Pro716Ala)
c.2134C>G (p.Pro712Ala)
c.1753C>G (p.Pro585Ala)
c.1681C>G (p.Pro561Ala)
c.1180C>G (p.Pro394Ala)
c.2047C>G (p.Pro683Ala)
c.1993C>G (p.Pro665Ala)
c.2071C>G (p.Pro691Ala)
c.2056C>G (p.Pro686Ala)
c.1684C>G (p.Pro562Ala)
c.1972C>G (p.Pro658Ala)
c.1576C>G (p.Pro526Ala)
c.1288C>G (p.Pro430Ala)
c.1609C>G (p.Pro537Ala)
c.1522C>G (p.Pro508Ala)
c.1291C>G (p.Pro431Ala)
c.1216C>G (p.Pro406Ala)
c.1213C>G (p.Pro405Ala)
c.2059C>G (p.Pro687Ala)
c.1525C>G (p.Pro509Ala)
c.1606C>G (p.Pro536Ala)
c.2044C>G (p.Pro682Ala)
n.2214C>G
c.1177C>G (p.Pro393Ala)
n.2086C>G
14g.88610885C>TCA390566071ZC3H14c.2149C>T (p.Pro717Ser)
c.*1357C>T (n.*1357C>T)
c.1678C>T (p.Pro560Ser)
c.859C>T (p.Pro287Ser)
c.1654C>T (p.Pro552Ser)
c.2074C>T (p.Pro692Ser)
c.787C>T (p.Pro263Ser)
n.992C>T
c.2131C>T (p.Pro711Ser)
c.394C>T (p.Pro132Ser)
n.308C>T
c.1255C>T (p.Pro419Ser)
c.1893C>T
c.1756C>T (p.Pro586Ser)
n.1434C>T
c.1201C>T (p.Pro401Ser)
c.2146C>T (p.Pro716Ser)
c.2134C>T (p.Pro712Ser)
c.1753C>T (p.Pro585Ser)
c.1681C>T (p.Pro561Ser)
c.1180C>T (p.Pro394Ser)
c.2047C>T (p.Pro683Ser)
c.1993C>T (p.Pro665Ser)
c.2071C>T (p.Pro691Ser)
c.2056C>T (p.Pro686Ser)
c.1684C>T (p.Pro562Ser)
c.1972C>T (p.Pro658Ser)
c.1576C>T (p.Pro526Ser)
c.1288C>T (p.Pro430Ser)
c.1609C>T (p.Pro537Ser)
c.1522C>T (p.Pro508Ser)
c.1291C>T (p.Pro431Ser)
c.1216C>T (p.Pro406Ser)
c.1213C>T (p.Pro405Ser)
c.2059C>T (p.Pro687Ser)
c.1525C>T (p.Pro509Ser)
c.1606C>T (p.Pro536Ser)
c.2044C>T (p.Pro682Ser)
n.2214C>T
c.1177C>T (p.Pro393Ser)
n.2086C>T
14g.88610886C>ACA390566086ZC3H14c.2150C>A (p.Pro717His)
c.*1358C>A (n.*1358C>A)
c.1679C>A (p.Pro560His)
c.860C>A (p.Pro287His)
c.1655C>A (p.Pro552His)
c.2075C>A (p.Pro692His)
c.788C>A (p.Pro263His)
n.993C>A
c.2132C>A (p.Pro711His)
c.395C>A (p.Pro132His)
n.309C>A
c.1256C>A (p.Pro419His)
c.1894C>A
c.1757C>A (p.Pro586His)
n.1435C>A
c.1202C>A (p.Pro401His)
c.2147C>A (p.Pro716His)
c.2135C>A (p.Pro712His)
c.1754C>A (p.Pro585His)
c.1682C>A (p.Pro561His)
c.1181C>A (p.Pro394His)
c.2048C>A (p.Pro683His)
c.1994C>A (p.Pro665His)
c.2072C>A (p.Pro691His)
c.2057C>A (p.Pro686His)
c.1685C>A (p.Pro562His)
c.1973C>A (p.Pro658His)
c.1577C>A (p.Pro526His)
c.1289C>A (p.Pro430His)
c.1610C>A (p.Pro537His)
c.1523C>A (p.Pro508His)
c.1292C>A (p.Pro431His)
c.1217C>A (p.Pro406His)
c.1214C>A (p.Pro405His)
c.2060C>A (p.Pro687His)
c.1526C>A (p.Pro509His)
c.1607C>A (p.Pro536His)
c.2045C>A (p.Pro682His)
n.2215C>A
c.1178C>A (p.Pro393His)
n.2087C>A
14g.88610886C>GCA390566084ZC3H14c.2150C>G (p.Pro717Arg)
c.*1358C>G (n.*1358C>G)
c.1679C>G (p.Pro560Arg)
c.860C>G (p.Pro287Arg)
c.1655C>G (p.Pro552Arg)
c.2075C>G (p.Pro692Arg)
c.788C>G (p.Pro263Arg)
n.993C>G
c.2132C>G (p.Pro711Arg)
c.395C>G (p.Pro132Arg)
n.309C>G
c.1256C>G (p.Pro419Arg)
c.1894C>G
c.1757C>G (p.Pro586Arg)
n.1435C>G
c.1202C>G (p.Pro401Arg)
c.2147C>G (p.Pro716Arg)
c.2135C>G (p.Pro712Arg)
c.1754C>G (p.Pro585Arg)
c.1682C>G (p.Pro561Arg)
c.1181C>G (p.Pro394Arg)
c.2048C>G (p.Pro683Arg)
c.1994C>G (p.Pro665Arg)
c.2072C>G (p.Pro691Arg)
c.2057C>G (p.Pro686Arg)
c.1685C>G (p.Pro562Arg)
c.1973C>G (p.Pro658Arg)
c.1577C>G (p.Pro526Arg)
c.1289C>G (p.Pro430Arg)
c.1610C>G (p.Pro537Arg)
c.1523C>G (p.Pro508Arg)
c.1292C>G (p.Pro431Arg)
c.1217C>G (p.Pro406Arg)
c.1214C>G (p.Pro405Arg)
c.2060C>G (p.Pro687Arg)
c.1526C>G (p.Pro509Arg)
c.1607C>G (p.Pro536Arg)
c.2045C>G (p.Pro682Arg)
n.2215C>G
c.1178C>G (p.Pro393Arg)
n.2087C>G
14g.88610886C>TCA390566080ZC3H14c.2150C>T (p.Pro717Leu)
c.*1358C>T (n.*1358C>T)
c.1679C>T (p.Pro560Leu)
c.860C>T (p.Pro287Leu)
c.1655C>T (p.Pro552Leu)
c.2075C>T (p.Pro692Leu)
c.788C>T (p.Pro263Leu)
n.993C>T
c.2132C>T (p.Pro711Leu)
c.395C>T (p.Pro132Leu)
n.309C>T
c.1256C>T (p.Pro419Leu)
c.1894C>T
c.1757C>T (p.Pro586Leu)
n.1435C>T
c.1202C>T (p.Pro401Leu)
c.2147C>T (p.Pro716Leu)
c.2135C>T (p.Pro712Leu)
c.1754C>T (p.Pro585Leu)
c.1682C>T (p.Pro561Leu)
c.1181C>T (p.Pro394Leu)
c.2048C>T (p.Pro683Leu)
c.1994C>T (p.Pro665Leu)
c.2072C>T (p.Pro691Leu)
c.2057C>T (p.Pro686Leu)
c.1685C>T (p.Pro562Leu)
c.1973C>T (p.Pro658Leu)
c.1577C>T (p.Pro526Leu)
c.1289C>T (p.Pro430Leu)
c.1610C>T (p.Pro537Leu)
c.1523C>T (p.Pro508Leu)
c.1292C>T (p.Pro431Leu)
c.1217C>T (p.Pro406Leu)
c.1214C>T (p.Pro405Leu)
c.2060C>T (p.Pro687Leu)
c.1526C>T (p.Pro509Leu)
c.1607C>T (p.Pro536Leu)
c.2045C>T (p.Pro682Leu)
n.2215C>T
c.1178C>T (p.Pro393Leu)
n.2087C>T
14g.88610887C>ACA487280432ZC3H14c.2151C>A (p.Pro717=)
c.*1359C>A (n.*1359C>A)
c.1680C>A (p.Pro560=)
c.861C>A (p.Pro287=)
c.1656C>A (p.Pro552=)
c.2076C>A (p.Pro692=)
c.789C>A (p.Pro263=)
n.994C>A
c.2133C>A (p.Pro711=)
c.396C>A (p.Pro132=)
n.310C>A
c.1257C>A (p.Pro419=)
c.1895C>A
c.1758C>A (p.Pro586=)
n.1436C>A
c.1203C>A (p.Pro401=)
c.2148C>A (p.Pro716=)
c.2136C>A (p.Pro712=)
c.1755C>A (p.Pro585=)
c.1683C>A (p.Pro561=)
c.1182C>A (p.Pro394=)
c.2049C>A (p.Pro683=)
c.1995C>A (p.Pro665=)
c.2073C>A (p.Pro691=)
c.2058C>A (p.Pro686=)
c.1686C>A (p.Pro562=)
c.1974C>A (p.Pro658=)
c.1578C>A (p.Pro526=)
c.1290C>A (p.Pro430=)
c.1611C>A (p.Pro537=)
c.1524C>A (p.Pro508=)
c.1293C>A (p.Pro431=)
c.1218C>A (p.Pro406=)
c.1215C>A (p.Pro405=)
c.2061C>A (p.Pro687=)
c.1527C>A (p.Pro509=)
c.1608C>A (p.Pro536=)
c.2046C>A (p.Pro682=)
n.2216C>A
c.1179C>A (p.Pro393=)
n.2088C>A
14g.88610887C=CA2153694405ZC3H14c.2151C= (p.Pro717=)
c.*1359C= (n.*1359C=)
c.1680C= (p.Pro560=)
c.861C= (p.Pro287=)
c.1656C= (p.Pro552=)
c.2076C= (p.Pro692=)
c.789C= (p.Pro263=)
n.994C=
c.2133C= (p.Pro711=)
c.396C= (p.Pro132=)
n.310C=
c.1257C= (p.Pro419=)
c.1895C=
c.1758C= (p.Pro586=)
n.1436C=
c.1203C= (p.Pro401=)
c.2148C= (p.Pro716=)
c.2136C= (p.Pro712=)
c.1755C= (p.Pro585=)
c.1683C= (p.Pro561=)
c.1182C= (p.Pro394=)
c.2049C= (p.Pro683=)
c.1995C= (p.Pro665=)
c.2073C= (p.Pro691=)
c.2058C= (p.Pro686=)
c.1686C= (p.Pro562=)
c.1974C= (p.Pro658=)
c.1578C= (p.Pro526=)
c.1290C= (p.Pro430=)
c.1611C= (p.Pro537=)
c.1524C= (p.Pro508=)
c.1293C= (p.Pro431=)
c.1218C= (p.Pro406=)
c.1215C= (p.Pro405=)
c.2061C= (p.Pro687=)
c.1527C= (p.Pro509=)
c.1608C= (p.Pro536=)
c.2046C= (p.Pro682=)
n.2216C=
c.1179C= (p.Pro393=)
n.2088C=
14g.88610887C>GCA487280433ZC3H14c.2151C>G (p.Pro717=)
c.*1359C>G (n.*1359C>G)
c.1680C>G (p.Pro560=)
c.861C>G (p.Pro287=)
c.1656C>G (p.Pro552=)
c.2076C>G (p.Pro692=)
c.789C>G (p.Pro263=)
n.994C>G
c.2133C>G (p.Pro711=)
c.396C>G (p.Pro132=)
n.310C>G
c.1257C>G (p.Pro419=)
c.1895C>G
c.1758C>G (p.Pro586=)
n.1436C>G
c.1203C>G (p.Pro401=)
c.2148C>G (p.Pro716=)
c.2136C>G (p.Pro712=)
c.1755C>G (p.Pro585=)
c.1683C>G (p.Pro561=)
c.1182C>G (p.Pro394=)
c.2049C>G (p.Pro683=)
c.1995C>G (p.Pro665=)
c.2073C>G (p.Pro691=)
c.2058C>G (p.Pro686=)
c.1686C>G (p.Pro562=)
c.1974C>G (p.Pro658=)
c.1578C>G (p.Pro526=)
c.1290C>G (p.Pro430=)
c.1611C>G (p.Pro537=)
c.1524C>G (p.Pro508=)
c.1293C>G (p.Pro431=)
c.1218C>G (p.Pro406=)
c.1215C>G (p.Pro405=)
c.2061C>G (p.Pro687=)
c.1527C>G (p.Pro509=)
c.1608C>G (p.Pro536=)
c.2046C>G (p.Pro682=)
n.2216C>G
c.1179C>G (p.Pro393=)
n.2088C>G
14g.88610887C>TCA487280434ZC3H14c.2151C>T (p.Pro717=)
c.*1359C>T (n.*1359C>T)
c.1680C>T (p.Pro560=)
c.861C>T (p.Pro287=)
c.1656C>T (p.Pro552=)
c.2076C>T (p.Pro692=)
c.789C>T (p.Pro263=)
n.994C>T
c.2133C>T (p.Pro711=)
c.396C>T (p.Pro132=)
n.310C>T
c.1257C>T (p.Pro419=)
c.1895C>T
c.1758C>T (p.Pro586=)
n.1436C>T
c.1203C>T (p.Pro401=)
c.2148C>T (p.Pro716=)
c.2136C>T (p.Pro712=)
c.1755C>T (p.Pro585=)
c.1683C>T (p.Pro561=)
c.1182C>T (p.Pro394=)
c.2049C>T (p.Pro683=)
c.1995C>T (p.Pro665=)
c.2073C>T (p.Pro691=)
c.2058C>T (p.Pro686=)
c.1686C>T (p.Pro562=)
c.1974C>T (p.Pro658=)
c.1578C>T (p.Pro526=)
c.1290C>T (p.Pro430=)
c.1611C>T (p.Pro537=)
c.1524C>T (p.Pro508=)
c.1293C>T (p.Pro431=)
c.1218C>T (p.Pro406=)
c.1215C>T (p.Pro405=)
c.2061C>T (p.Pro687=)
c.1527C>T (p.Pro509=)
c.1608C>T (p.Pro536=)
c.2046C>T (p.Pro682=)
n.2216C>T
c.1179C>T (p.Pro393=)
n.2088C>T
 dbSNP gnomAD v2 gnomAD v4
14g.88610888A=CA2153694406ZC3H14c.2152A= (p.Thr718=)
c.*1360A= (n.*1360A=)
c.1681A= (p.Thr561=)
c.862A= (p.Thr288=)
c.1657A= (p.Thr553=)
c.2077A= (p.Thr693=)
c.790A= (p.Thr264=)
n.995A=
c.2134A= (p.Thr712=)
c.397A= (p.Thr133=)
n.311A=
c.1258A= (p.Thr420=)
c.1896A=
c.1759A= (p.Thr587=)
n.1437A=
c.1204A= (p.Thr402=)
c.2149A= (p.Thr717=)
c.2137A= (p.Thr713=)
c.1756A= (p.Thr586=)
c.1684A= (p.Thr562=)
c.1183A= (p.Thr395=)
c.2050A= (p.Thr684=)
c.1996A= (p.Thr666=)
c.2074A= (p.Thr692=)
c.2059A= (p.Thr687=)
c.1687A= (p.Thr563=)
c.1975A= (p.Thr659=)
c.1579A= (p.Thr527=)
c.1291A= (p.Thr431=)
c.1612A= (p.Thr538=)
c.1525A= (p.Thr509=)
c.1294A= (p.Thr432=)
c.1219A= (p.Thr407=)
c.1216A= (p.Thr406=)
c.2062A= (p.Thr688=)
c.1528A= (p.Thr510=)
c.1609A= (p.Thr537=)
c.2047A= (p.Thr683=)
n.2217A=
c.1180A= (p.Thr394=)
n.2089A=
14g.88610888A>CCA390566090ZC3H14c.2152A>C (p.Thr718Pro)
c.*1360A>C (n.*1360A>C)
c.1681A>C (p.Thr561Pro)
c.862A>C (p.Thr288Pro)
c.1657A>C (p.Thr553Pro)
c.2077A>C (p.Thr693Pro)
c.790A>C (p.Thr264Pro)
n.995A>C
c.2134A>C (p.Thr712Pro)
c.397A>C (p.Thr133Pro)
n.311A>C
c.1258A>C (p.Thr420Pro)
c.1896A>C
c.1759A>C (p.Thr587Pro)
n.1437A>C
c.1204A>C (p.Thr402Pro)
c.2149A>C (p.Thr717Pro)
c.2137A>C (p.Thr713Pro)
c.1756A>C (p.Thr586Pro)
c.1684A>C (p.Thr562Pro)
c.1183A>C (p.Thr395Pro)
c.2050A>C (p.Thr684Pro)
c.1996A>C (p.Thr666Pro)
c.2074A>C (p.Thr692Pro)
c.2059A>C (p.Thr687Pro)
c.1687A>C (p.Thr563Pro)
c.1975A>C (p.Thr659Pro)
c.1579A>C (p.Thr527Pro)
c.1291A>C (p.Thr431Pro)
c.1612A>C (p.Thr538Pro)
c.1525A>C (p.Thr509Pro)
c.1294A>C (p.Thr432Pro)
c.1219A>C (p.Thr407Pro)
c.1216A>C (p.Thr406Pro)
c.2062A>C (p.Thr688Pro)
c.1528A>C (p.Thr510Pro)
c.1609A>C (p.Thr537Pro)
c.2047A>C (p.Thr683Pro)
n.2217A>C
c.1180A>C (p.Thr394Pro)
n.2089A>C
14g.88610888A>GCA264514035ZC3H14c.2152A>G (p.Thr718Ala)
c.*1360A>G (n.*1360A>G)
c.1681A>G (p.Thr561Ala)
c.862A>G (p.Thr288Ala)
c.1657A>G (p.Thr553Ala)
c.2077A>G (p.Thr693Ala)
c.790A>G (p.Thr264Ala)
n.995A>G
c.2134A>G (p.Thr712Ala)
c.397A>G (p.Thr133Ala)
n.311A>G
c.1258A>G (p.Thr420Ala)
c.1896A>G
c.1759A>G (p.Thr587Ala)
n.1437A>G
c.1204A>G (p.Thr402Ala)
c.2149A>G (p.Thr717Ala)
c.2137A>G (p.Thr713Ala)
c.1756A>G (p.Thr586Ala)
c.1684A>G (p.Thr562Ala)
c.1183A>G (p.Thr395Ala)
c.2050A>G (p.Thr684Ala)
c.1996A>G (p.Thr666Ala)
c.2074A>G (p.Thr692Ala)
c.2059A>G (p.Thr687Ala)
c.1687A>G (p.Thr563Ala)
c.1975A>G (p.Thr659Ala)
c.1579A>G (p.Thr527Ala)
c.1291A>G (p.Thr431Ala)
c.1612A>G (p.Thr538Ala)
c.1525A>G (p.Thr509Ala)
c.1294A>G (p.Thr432Ala)
c.1219A>G (p.Thr407Ala)
c.1216A>G (p.Thr406Ala)
c.2062A>G (p.Thr688Ala)
c.1528A>G (p.Thr510Ala)
c.1609A>G (p.Thr537Ala)
c.2047A>G (p.Thr683Ala)
n.2217A>G
c.1180A>G (p.Thr394Ala)
n.2089A>G
 dbSNP gnomAD v4
14g.88610888A>TCA390566097ZC3H14c.2152A>T (p.Thr718Ser)
c.*1360A>T (n.*1360A>T)
c.1681A>T (p.Thr561Ser)
c.862A>T (p.Thr288Ser)
c.1657A>T (p.Thr553Ser)
c.2077A>T (p.Thr693Ser)
c.790A>T (p.Thr264Ser)
n.995A>T
c.2134A>T (p.Thr712Ser)
c.397A>T (p.Thr133Ser)
n.311A>T
c.1258A>T (p.Thr420Ser)
c.1896A>T
c.1759A>T (p.Thr587Ser)
n.1437A>T
c.1204A>T (p.Thr402Ser)
c.2149A>T (p.Thr717Ser)
c.2137A>T (p.Thr713Ser)
c.1756A>T (p.Thr586Ser)
c.1684A>T (p.Thr562Ser)
c.1183A>T (p.Thr395Ser)
c.2050A>T (p.Thr684Ser)
c.1996A>T (p.Thr666Ser)
c.2074A>T (p.Thr692Ser)
c.2059A>T (p.Thr687Ser)
c.1687A>T (p.Thr563Ser)
c.1975A>T (p.Thr659Ser)
c.1579A>T (p.Thr527Ser)
c.1291A>T (p.Thr431Ser)
c.1612A>T (p.Thr538Ser)
c.1525A>T (p.Thr509Ser)
c.1294A>T (p.Thr432Ser)
c.1219A>T (p.Thr407Ser)
c.1216A>T (p.Thr406Ser)
c.2062A>T (p.Thr688Ser)
c.1528A>T (p.Thr510Ser)
c.1609A>T (p.Thr537Ser)
c.2047A>T (p.Thr683Ser)
n.2217A>T
c.1180A>T (p.Thr394Ser)
n.2089A>T
14g.88610889C>ACA390566100ZC3H14c.2153C>A (p.Thr718Asn)
c.*1361C>A (n.*1361C>A)
c.1682C>A (p.Thr561Asn)
c.863C>A (p.Thr288Asn)
c.1658C>A (p.Thr553Asn)
c.2078C>A (p.Thr693Asn)
c.791C>A (p.Thr264Asn)
n.996C>A
c.2135C>A (p.Thr712Asn)
c.398C>A (p.Thr133Asn)
n.312C>A
c.1259C>A (p.Thr420Asn)
c.1897C>A
c.1760C>A (p.Thr587Asn)
n.1438C>A
c.1205C>A (p.Thr402Asn)
c.2150C>A (p.Thr717Asn)
c.2138C>A (p.Thr713Asn)
c.1757C>A (p.Thr586Asn)
c.1685C>A (p.Thr562Asn)
c.1184C>A (p.Thr395Asn)
c.2051C>A (p.Thr684Asn)
c.1997C>A (p.Thr666Asn)
c.2075C>A (p.Thr692Asn)
c.2060C>A (p.Thr687Asn)
c.1688C>A (p.Thr563Asn)
c.1976C>A (p.Thr659Asn)
c.1580C>A (p.Thr527Asn)
c.1292C>A (p.Thr431Asn)
c.1613C>A (p.Thr538Asn)
c.1526C>A (p.Thr509Asn)
c.1295C>A (p.Thr432Asn)
c.1220C>A (p.Thr407Asn)
c.1217C>A (p.Thr406Asn)
c.2063C>A (p.Thr688Asn)
c.1529C>A (p.Thr510Asn)
c.1610C>A (p.Thr537Asn)
c.2048C>A (p.Thr683Asn)
n.2218C>A
c.1181C>A (p.Thr394Asn)
n.2090C>A
 gnomAD v4
14g.88610889C>GCA390566103ZC3H14c.2153C>G (p.Thr718Ser)
c.*1361C>G (n.*1361C>G)
c.1682C>G (p.Thr561Ser)
c.863C>G (p.Thr288Ser)
c.1658C>G (p.Thr553Ser)
c.2078C>G (p.Thr693Ser)
c.791C>G (p.Thr264Ser)
n.996C>G
c.2135C>G (p.Thr712Ser)
c.398C>G (p.Thr133Ser)
n.312C>G
c.1259C>G (p.Thr420Ser)
c.1897C>G
c.1760C>G (p.Thr587Ser)
n.1438C>G
c.1205C>G (p.Thr402Ser)
c.2150C>G (p.Thr717Ser)
c.2138C>G (p.Thr713Ser)
c.1757C>G (p.Thr586Ser)
c.1685C>G (p.Thr562Ser)
c.1184C>G (p.Thr395Ser)
c.2051C>G (p.Thr684Ser)
c.1997C>G (p.Thr666Ser)
c.2075C>G (p.Thr692Ser)
c.2060C>G (p.Thr687Ser)
c.1688C>G (p.Thr563Ser)
c.1976C>G (p.Thr659Ser)
c.1580C>G (p.Thr527Ser)
c.1292C>G (p.Thr431Ser)
c.1613C>G (p.Thr538Ser)
c.1526C>G (p.Thr509Ser)
c.1295C>G (p.Thr432Ser)
c.1220C>G (p.Thr407Ser)
c.1217C>G (p.Thr406Ser)
c.2063C>G (p.Thr688Ser)
c.1529C>G (p.Thr510Ser)
c.1610C>G (p.Thr537Ser)
c.2048C>G (p.Thr683Ser)
n.2218C>G
c.1181C>G (p.Thr394Ser)
n.2090C>G
14g.88610889C>TCA390566108ZC3H14c.2153C>T (p.Thr718Ile)
c.*1361C>T (n.*1361C>T)
c.1682C>T (p.Thr561Ile)
c.863C>T (p.Thr288Ile)
c.1658C>T (p.Thr553Ile)
c.2078C>T (p.Thr693Ile)
c.791C>T (p.Thr264Ile)
n.996C>T
c.2135C>T (p.Thr712Ile)
c.398C>T (p.Thr133Ile)
n.312C>T
c.1259C>T (p.Thr420Ile)
c.1897C>T
c.1760C>T (p.Thr587Ile)
n.1438C>T
c.1205C>T (p.Thr402Ile)
c.2150C>T (p.Thr717Ile)
c.2138C>T (p.Thr713Ile)
c.1757C>T (p.Thr586Ile)
c.1685C>T (p.Thr562Ile)
c.1184C>T (p.Thr395Ile)
c.2051C>T (p.Thr684Ile)
c.1997C>T (p.Thr666Ile)
c.2075C>T (p.Thr692Ile)
c.2060C>T (p.Thr687Ile)
c.1688C>T (p.Thr563Ile)
c.1976C>T (p.Thr659Ile)
c.1580C>T (p.Thr527Ile)
c.1292C>T (p.Thr431Ile)
c.1613C>T (p.Thr538Ile)
c.1526C>T (p.Thr509Ile)
c.1295C>T (p.Thr432Ile)
c.1220C>T (p.Thr407Ile)
c.1217C>T (p.Thr406Ile)
c.2063C>T (p.Thr688Ile)
c.1529C>T (p.Thr510Ile)
c.1610C>T (p.Thr537Ile)
c.2048C>T (p.Thr683Ile)
n.2218C>T
c.1181C>T (p.Thr394Ile)
n.2090C>T
14g.88610890C>ACA487280435ZC3H14c.2154C>A (p.Thr718=)
c.*1362C>A (n.*1362C>A)
c.1683C>A (p.Thr561=)
c.864C>A (p.Thr288=)
c.1659C>A (p.Thr553=)
c.2079C>A (p.Thr693=)
c.792C>A (p.Thr264=)
n.997C>A
c.2136C>A (p.Thr712=)
c.399C>A (p.Thr133=)
n.313C>A
c.1260C>A (p.Thr420=)
c.1898C>A
c.1761C>A (p.Thr587=)
n.1439C>A
c.1206C>A (p.Thr402=)
c.2151C>A (p.Thr717=)
c.2139C>A (p.Thr713=)
c.1758C>A (p.Thr586=)
c.1686C>A (p.Thr562=)
c.1185C>A (p.Thr395=)
c.2052C>A (p.Thr684=)
c.1998C>A (p.Thr666=)
c.2076C>A (p.Thr692=)
c.2061C>A (p.Thr687=)
c.1689C>A (p.Thr563=)
c.1977C>A (p.Thr659=)
c.1581C>A (p.Thr527=)
c.1293C>A (p.Thr431=)
c.1614C>A (p.Thr538=)
c.1527C>A (p.Thr509=)
c.1296C>A (p.Thr432=)
c.1221C>A (p.Thr407=)
c.1218C>A (p.Thr406=)
c.2064C>A (p.Thr688=)
c.1530C>A (p.Thr510=)
c.1611C>A (p.Thr537=)
c.2049C>A (p.Thr683=)
n.2219C>A
c.1182C>A (p.Thr394=)
n.2091C>A
14g.88610890C>GCA487280437ZC3H14c.2154C>G (p.Thr718=)
c.*1362C>G (n.*1362C>G)
c.1683C>G (p.Thr561=)
c.864C>G (p.Thr288=)
c.1659C>G (p.Thr553=)
c.2079C>G (p.Thr693=)
c.792C>G (p.Thr264=)
n.997C>G
c.2136C>G (p.Thr712=)
c.399C>G (p.Thr133=)
n.313C>G
c.1260C>G (p.Thr420=)
c.1898C>G
c.1761C>G (p.Thr587=)
n.1439C>G
c.1206C>G (p.Thr402=)
c.2151C>G (p.Thr717=)
c.2139C>G (p.Thr713=)
c.1758C>G (p.Thr586=)
c.1686C>G (p.Thr562=)
c.1185C>G (p.Thr395=)
c.2052C>G (p.Thr684=)
c.1998C>G (p.Thr666=)
c.2076C>G (p.Thr692=)
c.2061C>G (p.Thr687=)
c.1689C>G (p.Thr563=)
c.1977C>G (p.Thr659=)
c.1581C>G (p.Thr527=)
c.1293C>G (p.Thr431=)
c.1614C>G (p.Thr538=)
c.1527C>G (p.Thr509=)
c.1296C>G (p.Thr432=)
c.1221C>G (p.Thr407=)
c.1218C>G (p.Thr406=)
c.2064C>G (p.Thr688=)
c.1530C>G (p.Thr510=)
c.1611C>G (p.Thr537=)
c.2049C>G (p.Thr683=)
n.2219C>G
c.1182C>G (p.Thr394=)
n.2091C>G
14g.88610890C>TCA487280436ZC3H14c.2154C>T (p.Thr718=)
c.*1362C>T (n.*1362C>T)
c.1683C>T (p.Thr561=)
c.864C>T (p.Thr288=)
c.1659C>T (p.Thr553=)
c.2079C>T (p.Thr693=)
c.792C>T (p.Thr264=)
n.997C>T
c.2136C>T (p.Thr712=)
c.399C>T (p.Thr133=)
n.313C>T
c.1260C>T (p.Thr420=)
c.1898C>T
c.1761C>T (p.Thr587=)
n.1439C>T
c.1206C>T (p.Thr402=)
c.2151C>T (p.Thr717=)
c.2139C>T (p.Thr713=)
c.1758C>T (p.Thr586=)
c.1686C>T (p.Thr562=)
c.1185C>T (p.Thr395=)
c.2052C>T (p.Thr684=)
c.1998C>T (p.Thr666=)
c.2076C>T (p.Thr692=)
c.2061C>T (p.Thr687=)
c.1689C>T (p.Thr563=)
c.1977C>T (p.Thr659=)
c.1581C>T (p.Thr527=)
c.1293C>T (p.Thr431=)
c.1614C>T (p.Thr538=)
c.1527C>T (p.Thr509=)
c.1296C>T (p.Thr432=)
c.1221C>T (p.Thr407=)
c.1218C>T (p.Thr406=)
c.2064C>T (p.Thr688=)
c.1530C>T (p.Thr510=)
c.1611C>T (p.Thr537=)
c.2049C>T (p.Thr683=)
n.2219C>T
c.1182C>T (p.Thr394=)
n.2091C>T
 gnomAD v4
14g.88610891A=CA2153694407ZC3H14c.2155A= (p.Ile719=)
c.*1363A= (n.*1363A=)
c.1684A= (p.Ile562=)
c.865A= (p.Ile289=)
c.1660A= (p.Ile554=)
c.2080A= (p.Ile694=)
c.793A= (p.Ile265=)
n.998A=
c.2137A= (p.Ile713=)
c.400A= (p.Ile134=)
n.314A=
c.1261A= (p.Ile421=)
c.1899A=
c.1762A= (p.Ile588=)
n.1440A=
c.1207A= (p.Ile403=)
c.2152A= (p.Ile718=)
c.2140A= (p.Ile714=)
c.1759A= (p.Ile587=)
c.1687A= (p.Ile563=)
c.1186A= (p.Ile396=)
c.2053A= (p.Ile685=)
c.1999A= (p.Ile667=)
c.2077A= (p.Ile693=)
c.2062A= (p.Ile688=)
c.1690A= (p.Ile564=)
c.1978A= (p.Ile660=)
c.1582A= (p.Ile528=)
c.1294A= (p.Ile432=)
c.1615A= (p.Ile539=)
c.1528A= (p.Ile510=)
c.1297A= (p.Ile433=)
c.1222A= (p.Ile408=)
c.1219A= (p.Ile407=)
c.2065A= (p.Ile689=)
c.1531A= (p.Ile511=)
c.1612A= (p.Ile538=)
c.2050A= (p.Ile684=)
n.2220A=
c.1183A= (p.Ile395=)
n.2092A=
14g.88610891A>CCA390566114ZC3H14c.2155A>C (p.Ile719Leu)
c.*1363A>C (n.*1363A>C)
c.1684A>C (p.Ile562Leu)
c.865A>C (p.Ile289Leu)
c.1660A>C (p.Ile554Leu)
c.2080A>C (p.Ile694Leu)
c.793A>C (p.Ile265Leu)
n.998A>C
c.2137A>C (p.Ile713Leu)
c.400A>C (p.Ile134Leu)
n.314A>C
c.1261A>C (p.Ile421Leu)
c.1899A>C
c.1762A>C (p.Ile588Leu)
n.1440A>C
c.1207A>C (p.Ile403Leu)
c.2152A>C (p.Ile718Leu)
c.2140A>C (p.Ile714Leu)
c.1759A>C (p.Ile587Leu)
c.1687A>C (p.Ile563Leu)
c.1186A>C (p.Ile396Leu)
c.2053A>C (p.Ile685Leu)
c.1999A>C (p.Ile667Leu)
c.2077A>C (p.Ile693Leu)
c.2062A>C (p.Ile688Leu)
c.1690A>C (p.Ile564Leu)
c.1978A>C (p.Ile660Leu)
c.1582A>C (p.Ile528Leu)
c.1294A>C (p.Ile432Leu)
c.1615A>C (p.Ile539Leu)
c.1528A>C (p.Ile510Leu)
c.1297A>C (p.Ile433Leu)
c.1222A>C (p.Ile408Leu)
c.1219A>C (p.Ile407Leu)
c.2065A>C (p.Ile689Leu)
c.1531A>C (p.Ile511Leu)
c.1612A>C (p.Ile538Leu)
c.2050A>C (p.Ile684Leu)
n.2220A>C
c.1183A>C (p.Ile395Leu)
n.2092A>C
14g.88610891A>GCA7300782ZC3H14c.2155A>G (p.Ile719Val)
c.*1363A>G (n.*1363A>G)
c.1684A>G (p.Ile562Val)
c.865A>G (p.Ile289Val)
c.1660A>G (p.Ile554Val)
c.2080A>G (p.Ile694Val)
c.793A>G (p.Ile265Val)
n.998A>G
c.2137A>G (p.Ile713Val)
c.400A>G (p.Ile134Val)
n.314A>G
c.1261A>G (p.Ile421Val)
c.1899A>G
c.1762A>G (p.Ile588Val)
n.1440A>G
c.1207A>G (p.Ile403Val)
c.2152A>G (p.Ile718Val)
c.2140A>G (p.Ile714Val)
c.1759A>G (p.Ile587Val)
c.1687A>G (p.Ile563Val)
c.1186A>G (p.Ile396Val)
c.2053A>G (p.Ile685Val)
c.1999A>G (p.Ile667Val)
c.2077A>G (p.Ile693Val)
c.2062A>G (p.Ile688Val)
c.1690A>G (p.Ile564Val)
c.1978A>G (p.Ile660Val)
c.1582A>G (p.Ile528Val)
c.1294A>G (p.Ile432Val)
c.1615A>G (p.Ile539Val)
c.1528A>G (p.Ile510Val)
c.1297A>G (p.Ile433Val)
c.1222A>G (p.Ile408Val)
c.1219A>G (p.Ile407Val)
c.2065A>G (p.Ile689Val)
c.1531A>G (p.Ile511Val)
c.1612A>G (p.Ile538Val)
c.2050A>G (p.Ile684Val)
n.2220A>G
c.1183A>G (p.Ile395Val)
n.2092A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.88610891A>TCA390566112ZC3H14c.2155A>T (p.Ile719Phe)
c.*1363A>T (n.*1363A>T)
c.1684A>T (p.Ile562Phe)
c.865A>T (p.Ile289Phe)
c.1660A>T (p.Ile554Phe)
c.2080A>T (p.Ile694Phe)
c.793A>T (p.Ile265Phe)
n.998A>T
c.2137A>T (p.Ile713Phe)
c.400A>T (p.Ile134Phe)
n.314A>T
c.1261A>T (p.Ile421Phe)
c.1899A>T
c.1762A>T (p.Ile588Phe)
n.1440A>T
c.1207A>T (p.Ile403Phe)
c.2152A>T (p.Ile718Phe)
c.2140A>T (p.Ile714Phe)
c.1759A>T (p.Ile587Phe)
c.1687A>T (p.Ile563Phe)
c.1186A>T (p.Ile396Phe)
c.2053A>T (p.Ile685Phe)
c.1999A>T (p.Ile667Phe)
c.2077A>T (p.Ile693Phe)
c.2062A>T (p.Ile688Phe)
c.1690A>T (p.Ile564Phe)
c.1978A>T (p.Ile660Phe)
c.1582A>T (p.Ile528Phe)
c.1294A>T (p.Ile432Phe)
c.1615A>T (p.Ile539Phe)
c.1528A>T (p.Ile510Phe)
c.1297A>T (p.Ile433Phe)
c.1222A>T (p.Ile408Phe)
c.1219A>T (p.Ile407Phe)
c.2065A>T (p.Ile689Phe)
c.1531A>T (p.Ile511Phe)
c.1612A>T (p.Ile538Phe)
c.2050A>T (p.Ile684Phe)
n.2220A>T
c.1183A>T (p.Ile395Phe)
n.2092A>T
14g.88610892T>ACA390566116ZC3H14c.2156T>A (p.Ile719Asn)
c.*1364T>A (n.*1364T>A)
c.1685T>A (p.Ile562Asn)
c.866T>A (p.Ile289Asn)
c.1661T>A (p.Ile554Asn)
c.2081T>A (p.Ile694Asn)
c.794T>A (p.Ile265Asn)
n.999T>A
c.2138T>A (p.Ile713Asn)
c.401T>A (p.Ile134Asn)
n.315T>A
c.1262T>A (p.Ile421Asn)
c.1900T>A
c.1763T>A (p.Ile588Asn)
n.1441T>A
c.1208T>A (p.Ile403Asn)
c.2153T>A (p.Ile718Asn)
c.2141T>A (p.Ile714Asn)
c.1760T>A (p.Ile587Asn)
c.1688T>A (p.Ile563Asn)
c.1187T>A (p.Ile396Asn)
c.2054T>A (p.Ile685Asn)
c.2000T>A (p.Ile667Asn)
c.2078T>A (p.Ile693Asn)
c.2063T>A (p.Ile688Asn)
c.1691T>A (p.Ile564Asn)
c.1979T>A (p.Ile660Asn)
c.1583T>A (p.Ile528Asn)
c.1295T>A (p.Ile432Asn)
c.1616T>A (p.Ile539Asn)
c.1529T>A (p.Ile510Asn)
c.1298T>A (p.Ile433Asn)
c.1223T>A (p.Ile408Asn)
c.1220T>A (p.Ile407Asn)
c.2066T>A (p.Ile689Asn)
c.1532T>A (p.Ile511Asn)
c.1613T>A (p.Ile538Asn)
c.2051T>A (p.Ile684Asn)
n.2221T>A
c.1184T>A (p.Ile395Asn)
n.2093T>A
14g.88610892T>CCA390566120ZC3H14c.2156T>C (p.Ile719Thr)
c.*1364T>C (n.*1364T>C)
c.1685T>C (p.Ile562Thr)
c.866T>C (p.Ile289Thr)
c.1661T>C (p.Ile554Thr)
c.2081T>C (p.Ile694Thr)
c.794T>C (p.Ile265Thr)
n.999T>C
c.2138T>C (p.Ile713Thr)
c.401T>C (p.Ile134Thr)
n.315T>C
c.1262T>C (p.Ile421Thr)
c.1900T>C
c.1763T>C (p.Ile588Thr)
n.1441T>C
c.1208T>C (p.Ile403Thr)
c.2153T>C (p.Ile718Thr)
c.2141T>C (p.Ile714Thr)
c.1760T>C (p.Ile587Thr)
c.1688T>C (p.Ile563Thr)
c.1187T>C (p.Ile396Thr)
c.2054T>C (p.Ile685Thr)
c.2000T>C (p.Ile667Thr)
c.2078T>C (p.Ile693Thr)
c.2063T>C (p.Ile688Thr)
c.1691T>C (p.Ile564Thr)
c.1979T>C (p.Ile660Thr)
c.1583T>C (p.Ile528Thr)
c.1295T>C (p.Ile432Thr)
c.1616T>C (p.Ile539Thr)
c.1529T>C (p.Ile510Thr)
c.1298T>C (p.Ile433Thr)
c.1223T>C (p.Ile408Thr)
c.1220T>C (p.Ile407Thr)
c.2066T>C (p.Ile689Thr)
c.1532T>C (p.Ile511Thr)
c.1613T>C (p.Ile538Thr)
c.2051T>C (p.Ile684Thr)
n.2221T>C
c.1184T>C (p.Ile395Thr)
n.2093T>C
14g.88610892T>GCA390566124ZC3H14c.2156T>G (p.Ile719Ser)
c.*1364T>G (n.*1364T>G)
c.1685T>G (p.Ile562Ser)
c.866T>G (p.Ile289Ser)
c.1661T>G (p.Ile554Ser)
c.2081T>G (p.Ile694Ser)
c.794T>G (p.Ile265Ser)
n.999T>G
c.2138T>G (p.Ile713Ser)
c.401T>G (p.Ile134Ser)
n.315T>G
c.1262T>G (p.Ile421Ser)
c.1900T>G
c.1763T>G (p.Ile588Ser)
n.1441T>G
c.1208T>G (p.Ile403Ser)
c.2153T>G (p.Ile718Ser)
c.2141T>G (p.Ile714Ser)
c.1760T>G (p.Ile587Ser)
c.1688T>G (p.Ile563Ser)
c.1187T>G (p.Ile396Ser)
c.2054T>G (p.Ile685Ser)
c.2000T>G (p.Ile667Ser)
c.2078T>G (p.Ile693Ser)
c.2063T>G (p.Ile688Ser)
c.1691T>G (p.Ile564Ser)
c.1979T>G (p.Ile660Ser)
c.1583T>G (p.Ile528Ser)
c.1295T>G (p.Ile432Ser)
c.1616T>G (p.Ile539Ser)
c.1529T>G (p.Ile510Ser)
c.1298T>G (p.Ile433Ser)
c.1223T>G (p.Ile408Ser)
c.1220T>G (p.Ile407Ser)
c.2066T>G (p.Ile689Ser)
c.1532T>G (p.Ile511Ser)
c.1613T>G (p.Ile538Ser)
c.2051T>G (p.Ile684Ser)
n.2221T>G
c.1184T>G (p.Ile395Ser)
n.2093T>G
14g.88610893T>ACA487280439ZC3H14c.2157T>A (p.Ile719=)
c.*1365T>A (n.*1365T>A)
c.1686T>A (p.Ile562=)
c.867T>A (p.Ile289=)
c.1662T>A (p.Ile554=)
c.2082T>A (p.Ile694=)
c.795T>A (p.Ile265=)
n.1000T>A
c.2139T>A (p.Ile713=)
c.402T>A (p.Ile134=)
n.316T>A
c.1263T>A (p.Ile421=)
c.1901T>A
c.1764T>A (p.Ile588=)
n.1442T>A
c.1209T>A (p.Ile403=)
c.2154T>A (p.Ile718=)
c.2142T>A (p.Ile714=)
c.1761T>A (p.Ile587=)
c.1689T>A (p.Ile563=)
c.1188T>A (p.Ile396=)
c.2055T>A (p.Ile685=)
c.2001T>A (p.Ile667=)
c.2079T>A (p.Ile693=)
c.2064T>A (p.Ile688=)
c.1692T>A (p.Ile564=)
c.1980T>A (p.Ile660=)
c.1584T>A (p.Ile528=)
c.1296T>A (p.Ile432=)
c.1617T>A (p.Ile539=)
c.1530T>A (p.Ile510=)
c.1299T>A (p.Ile433=)
c.1224T>A (p.Ile408=)
c.1221T>A (p.Ile407=)
c.2067T>A (p.Ile689=)
c.1533T>A (p.Ile511=)
c.1614T>A (p.Ile538=)
c.2052T>A (p.Ile684=)
n.2222T>A
c.1185T>A (p.Ile395=)
n.2094T>A
14g.88610893T>CCA487280438ZC3H14c.2157T>C (p.Ile719=)
c.*1365T>C (n.*1365T>C)
c.1686T>C (p.Ile562=)
c.867T>C (p.Ile289=)
c.1662T>C (p.Ile554=)
c.2082T>C (p.Ile694=)
c.795T>C (p.Ile265=)
n.1000T>C
c.2139T>C (p.Ile713=)
c.402T>C (p.Ile134=)
n.316T>C
c.1263T>C (p.Ile421=)
c.1901T>C
c.1764T>C (p.Ile588=)
n.1442T>C
c.1209T>C (p.Ile403=)
c.2154T>C (p.Ile718=)
c.2142T>C (p.Ile714=)
c.1761T>C (p.Ile587=)
c.1689T>C (p.Ile563=)
c.1188T>C (p.Ile396=)
c.2055T>C (p.Ile685=)
c.2001T>C (p.Ile667=)
c.2079T>C (p.Ile693=)
c.2064T>C (p.Ile688=)
c.1692T>C (p.Ile564=)
c.1980T>C (p.Ile660=)
c.1584T>C (p.Ile528=)
c.1296T>C (p.Ile432=)
c.1617T>C (p.Ile539=)
c.1530T>C (p.Ile510=)
c.1299T>C (p.Ile433=)
c.1224T>C (p.Ile408=)
c.1221T>C (p.Ile407=)
c.2067T>C (p.Ile689=)
c.1533T>C (p.Ile511=)
c.1614T>C (p.Ile538=)
c.2052T>C (p.Ile684=)
n.2222T>C
c.1185T>C (p.Ile395=)
n.2094T>C
14g.88610893T>GCA390566127ZC3H14c.2157T>G (p.Ile719Met)
c.*1365T>G (n.*1365T>G)
c.1686T>G (p.Ile562Met)
c.867T>G (p.Ile289Met)
c.1662T>G (p.Ile554Met)
c.2082T>G (p.Ile694Met)
c.795T>G (p.Ile265Met)
n.1000T>G
c.2139T>G (p.Ile713Met)
c.402T>G (p.Ile134Met)
n.316T>G
c.1263T>G (p.Ile421Met)
c.1901T>G
c.1764T>G (p.Ile588Met)
n.1442T>G
c.1209T>G (p.Ile403Met)
c.2154T>G (p.Ile718Met)
c.2142T>G (p.Ile714Met)
c.1761T>G (p.Ile587Met)
c.1689T>G (p.Ile563Met)
c.1188T>G (p.Ile396Met)
c.2055T>G (p.Ile685Met)
c.2001T>G (p.Ile667Met)
c.2079T>G (p.Ile693Met)
c.2064T>G (p.Ile688Met)
c.1692T>G (p.Ile564Met)
c.1980T>G (p.Ile660Met)
c.1584T>G (p.Ile528Met)
c.1296T>G (p.Ile432Met)
c.1617T>G (p.Ile539Met)
c.1530T>G (p.Ile510Met)
c.1299T>G (p.Ile433Met)
c.1224T>G (p.Ile408Met)
c.1221T>G (p.Ile407Met)
c.2067T>G (p.Ile689Met)
c.1533T>G (p.Ile511Met)
c.1614T>G (p.Ile538Met)
c.2052T>G (p.Ile684Met)
n.2222T>G
c.1185T>G (p.Ile395Met)
n.2094T>G
 gnomAD v4
14g.88610894A=CA2153694408ZC3H14c.2158A= (p.Asn720=)
c.*1366A= (n.*1366A=)
c.1687A= (p.Asn563=)
c.868A= (p.Asn290=)
c.1663A= (p.Asn555=)
c.2083A= (p.Asn695=)
c.796A= (p.Asn266=)
n.1001A=
c.2140A= (p.Asn714=)
c.403A= (p.Asn135=)
n.317A=
c.1264A= (p.Asn422=)
c.1902A=
c.1765A= (p.Asn589=)
n.1443A=
c.1210A= (p.Asn404=)
c.2155A= (p.Asn719=)
c.2143A= (p.Asn715=)
c.1762A= (p.Asn588=)
c.1690A= (p.Asn564=)
c.1189A= (p.Asn397=)
c.2056A= (p.Asn686=)
c.2002A= (p.Asn668=)
c.2080A= (p.Asn694=)
c.2065A= (p.Asn689=)
c.1693A= (p.Asn565=)
c.1981A= (p.Asn661=)
c.1585A= (p.Asn529=)
c.1297A= (p.Asn433=)
c.1618A= (p.Asn540=)
c.1531A= (p.Asn511=)
c.1300A= (p.Asn434=)
c.1225A= (p.Asn409=)
c.1222A= (p.Asn408=)
c.2068A= (p.Asn690=)
c.1534A= (p.Asn512=)
c.1615A= (p.Asn539=)
c.2053A= (p.Asn685=)
n.2223A=
c.1186A= (p.Asn396=)
n.2095A=
14g.88610894A>CCA390566128ZC3H14c.2158A>C (p.Asn720His)
c.*1366A>C (n.*1366A>C)
c.1687A>C (p.Asn563His)
c.868A>C (p.Asn290His)
c.1663A>C (p.Asn555His)
c.2083A>C (p.Asn695His)
c.796A>C (p.Asn266His)
n.1001A>C
c.2140A>C (p.Asn714His)
c.403A>C (p.Asn135His)
n.317A>C
c.1264A>C (p.Asn422His)
c.1902A>C
c.1765A>C (p.Asn589His)
n.1443A>C
c.1210A>C (p.Asn404His)
c.2155A>C (p.Asn719His)
c.2143A>C (p.Asn715His)
c.1762A>C (p.Asn588His)
c.1690A>C (p.Asn564His)
c.1189A>C (p.Asn397His)
c.2056A>C (p.Asn686His)
c.2002A>C (p.Asn668His)
c.2080A>C (p.Asn694His)
c.2065A>C (p.Asn689His)
c.1693A>C (p.Asn565His)
c.1981A>C (p.Asn661His)
c.1585A>C (p.Asn529His)
c.1297A>C (p.Asn433His)
c.1618A>C (p.Asn540His)
c.1531A>C (p.Asn511His)
c.1300A>C (p.Asn434His)
c.1225A>C (p.Asn409His)
c.1222A>C (p.Asn408His)
c.2068A>C (p.Asn690His)
c.1534A>C (p.Asn512His)
c.1615A>C (p.Asn539His)
c.2053A>C (p.Asn685His)
n.2223A>C
c.1186A>C (p.Asn396His)
n.2095A>C
14g.88610894A>GCA390566129ZC3H14c.2158A>G (p.Asn720Asp)
c.*1366A>G (n.*1366A>G)
c.1687A>G (p.Asn563Asp)
c.868A>G (p.Asn290Asp)
c.1663A>G (p.Asn555Asp)
c.2083A>G (p.Asn695Asp)
c.796A>G (p.Asn266Asp)
n.1001A>G
c.2140A>G (p.Asn714Asp)
c.403A>G (p.Asn135Asp)
n.317A>G
c.1264A>G (p.Asn422Asp)
c.1902A>G
c.1765A>G (p.Asn589Asp)
n.1443A>G
c.1210A>G (p.Asn404Asp)
c.2155A>G (p.Asn719Asp)
c.2143A>G (p.Asn715Asp)
c.1762A>G (p.Asn588Asp)
c.1690A>G (p.Asn564Asp)
c.1189A>G (p.Asn397Asp)
c.2056A>G (p.Asn686Asp)
c.2002A>G (p.Asn668Asp)
c.2080A>G (p.Asn694Asp)
c.2065A>G (p.Asn689Asp)
c.1693A>G (p.Asn565Asp)
c.1981A>G (p.Asn661Asp)
c.1585A>G (p.Asn529Asp)
c.1297A>G (p.Asn433Asp)
c.1618A>G (p.Asn540Asp)
c.1531A>G (p.Asn511Asp)
c.1300A>G (p.Asn434Asp)
c.1225A>G (p.Asn409Asp)
c.1222A>G (p.Asn408Asp)
c.2068A>G (p.Asn690Asp)
c.1534A>G (p.Asn512Asp)
c.1615A>G (p.Asn539Asp)
c.2053A>G (p.Asn685Asp)
n.2223A>G
c.1186A>G (p.Asn396Asp)
n.2095A>G
 dbSNP gnomAD v3 gnomAD v4
14g.88610894A>TCA390566130ZC3H14c.2158A>T (p.Asn720Tyr)
c.*1366A>T (n.*1366A>T)
c.1687A>T (p.Asn563Tyr)
c.868A>T (p.Asn290Tyr)
c.1663A>T (p.Asn555Tyr)
c.2083A>T (p.Asn695Tyr)
c.796A>T (p.Asn266Tyr)
n.1001A>T
c.2140A>T (p.Asn714Tyr)
c.403A>T (p.Asn135Tyr)
n.317A>T
c.1264A>T (p.Asn422Tyr)
c.1902A>T
c.1765A>T (p.Asn589Tyr)
n.1443A>T
c.1210A>T (p.Asn404Tyr)
c.2155A>T (p.Asn719Tyr)
c.2143A>T (p.Asn715Tyr)
c.1762A>T (p.Asn588Tyr)
c.1690A>T (p.Asn564Tyr)
c.1189A>T (p.Asn397Tyr)
c.2056A>T (p.Asn686Tyr)
c.2002A>T (p.Asn668Tyr)
c.2080A>T (p.Asn694Tyr)
c.2065A>T (p.Asn689Tyr)
c.1693A>T (p.Asn565Tyr)
c.1981A>T (p.Asn661Tyr)
c.1585A>T (p.Asn529Tyr)
c.1297A>T (p.Asn433Tyr)
c.1618A>T (p.Asn540Tyr)
c.1531A>T (p.Asn511Tyr)
c.1300A>T (p.Asn434Tyr)
c.1225A>T (p.Asn409Tyr)
c.1222A>T (p.Asn408Tyr)
c.2068A>T (p.Asn690Tyr)
c.1534A>T (p.Asn512Tyr)
c.1615A>T (p.Asn539Tyr)
c.2053A>T (p.Asn685Tyr)
n.2223A>T
c.1186A>T (p.Asn396Tyr)
n.2095A>T
14g.88610895A=CA2153694409ZC3H14c.2159A= (p.Asn720=)
c.*1367A= (n.*1367A=)
c.1688A= (p.Asn563=)
c.869A= (p.Asn290=)
c.1664A= (p.Asn555=)
c.2084A= (p.Asn695=)
c.797A= (p.Asn266=)
n.1002A=
c.2141A= (p.Asn714=)
c.404A= (p.Asn135=)
n.318A=
c.1265A= (p.Asn422=)
c.1903A=
c.1766A= (p.Asn589=)
n.1444A=
c.1211A= (p.Asn404=)
c.2156A= (p.Asn719=)
c.2144A= (p.Asn715=)
c.1763A= (p.Asn588=)
c.1691A= (p.Asn564=)
c.1190A= (p.Asn397=)
c.2057A= (p.Asn686=)
c.2003A= (p.Asn668=)
c.2081A= (p.Asn694=)
c.2066A= (p.Asn689=)
c.1694A= (p.Asn565=)
c.1982A= (p.Asn661=)
c.1586A= (p.Asn529=)
c.1298A= (p.Asn433=)
c.1619A= (p.Asn540=)
c.1532A= (p.Asn511=)
c.1301A= (p.Asn434=)
c.1226A= (p.Asn409=)
c.1223A= (p.Asn408=)
c.2069A= (p.Asn690=)
c.1535A= (p.Asn512=)
c.1616A= (p.Asn539=)
c.2054A= (p.Asn685=)
n.2224A=
c.1187A= (p.Asn396=)
n.2096A=
14g.88610895A>CCA390566134ZC3H14c.2159A>C (p.Asn720Thr)
c.*1367A>C (n.*1367A>C)
c.1688A>C (p.Asn563Thr)
c.869A>C (p.Asn290Thr)
c.1664A>C (p.Asn555Thr)
c.2084A>C (p.Asn695Thr)
c.797A>C (p.Asn266Thr)
n.1002A>C
c.2141A>C (p.Asn714Thr)
c.404A>C (p.Asn135Thr)
n.318A>C
c.1265A>C (p.Asn422Thr)
c.1903A>C
c.1766A>C (p.Asn589Thr)
n.1444A>C
c.1211A>C (p.Asn404Thr)
c.2156A>C (p.Asn719Thr)
c.2144A>C (p.Asn715Thr)
c.1763A>C (p.Asn588Thr)
c.1691A>C (p.Asn564Thr)
c.1190A>C (p.Asn397Thr)
c.2057A>C (p.Asn686Thr)
c.2003A>C (p.Asn668Thr)
c.2081A>C (p.Asn694Thr)
c.2066A>C (p.Asn689Thr)
c.1694A>C (p.Asn565Thr)
c.1982A>C (p.Asn661Thr)
c.1586A>C (p.Asn529Thr)
c.1298A>C (p.Asn433Thr)
c.1619A>C (p.Asn540Thr)
c.1532A>C (p.Asn511Thr)
c.1301A>C (p.Asn434Thr)
c.1226A>C (p.Asn409Thr)
c.1223A>C (p.Asn408Thr)
c.2069A>C (p.Asn690Thr)
c.1535A>C (p.Asn512Thr)
c.1616A>C (p.Asn539Thr)
c.2054A>C (p.Asn685Thr)
n.2224A>C
c.1187A>C (p.Asn396Thr)
n.2096A>C
 dbSNP
14g.88610895A>GCA7300783ZC3H14c.2159A>G (p.Asn720Ser)
c.*1367A>G (n.*1367A>G)
c.1688A>G (p.Asn563Ser)
c.869A>G (p.Asn290Ser)
c.1664A>G (p.Asn555Ser)
c.2084A>G (p.Asn695Ser)
c.797A>G (p.Asn266Ser)
n.1002A>G
c.2141A>G (p.Asn714Ser)
c.404A>G (p.Asn135Ser)
n.318A>G
c.1265A>G (p.Asn422Ser)
c.1903A>G
c.1766A>G (p.Asn589Ser)
n.1444A>G
c.1211A>G (p.Asn404Ser)
c.2156A>G (p.Asn719Ser)
c.2144A>G (p.Asn715Ser)
c.1763A>G (p.Asn588Ser)
c.1691A>G (p.Asn564Ser)
c.1190A>G (p.Asn397Ser)
c.2057A>G (p.Asn686Ser)
c.2003A>G (p.Asn668Ser)
c.2081A>G (p.Asn694Ser)
c.2066A>G (p.Asn689Ser)
c.1694A>G (p.Asn565Ser)
c.1982A>G (p.Asn661Ser)
c.1586A>G (p.Asn529Ser)
c.1298A>G (p.Asn433Ser)
c.1619A>G (p.Asn540Ser)
c.1532A>G (p.Asn511Ser)
c.1301A>G (p.Asn434Ser)
c.1226A>G (p.Asn409Ser)
c.1223A>G (p.Asn408Ser)
c.2069A>G (p.Asn690Ser)
c.1535A>G (p.Asn512Ser)
c.1616A>G (p.Asn539Ser)
c.2054A>G (p.Asn685Ser)
n.2224A>G
c.1187A>G (p.Asn396Ser)
n.2096A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.88610895A>TCA390566148ZC3H14c.2159A>T (p.Asn720Ile)
c.*1367A>T (n.*1367A>T)
c.1688A>T (p.Asn563Ile)
c.869A>T (p.Asn290Ile)
c.1664A>T (p.Asn555Ile)
c.2084A>T (p.Asn695Ile)
c.797A>T (p.Asn266Ile)
n.1002A>T
c.2141A>T (p.Asn714Ile)
c.404A>T (p.Asn135Ile)
n.318A>T
c.1265A>T (p.Asn422Ile)
c.1903A>T
c.1766A>T (p.Asn589Ile)
n.1444A>T
c.1211A>T (p.Asn404Ile)
c.2156A>T (p.Asn719Ile)
c.2144A>T (p.Asn715Ile)
c.1763A>T (p.Asn588Ile)
c.1691A>T (p.Asn564Ile)
c.1190A>T (p.Asn397Ile)
c.2057A>T (p.Asn686Ile)
c.2003A>T (p.Asn668Ile)
c.2081A>T (p.Asn694Ile)
c.2066A>T (p.Asn689Ile)
c.1694A>T (p.Asn565Ile)
c.1982A>T (p.Asn661Ile)
c.1586A>T (p.Asn529Ile)
c.1298A>T (p.Asn433Ile)
c.1619A>T (p.Asn540Ile)
c.1532A>T (p.Asn511Ile)
c.1301A>T (p.Asn434Ile)
c.1226A>T (p.Asn409Ile)
c.1223A>T (p.Asn408Ile)
c.2069A>T (p.Asn690Ile)
c.1535A>T (p.Asn512Ile)
c.1616A>T (p.Asn539Ile)
c.2054A>T (p.Asn685Ile)
n.2224A>T
c.1187A>T (p.Asn396Ile)
n.2096A>T
14g.88610896T>ACA390566151ZC3H14c.2160T>A (p.Asn720Lys)
c.*1368T>A (n.*1368T>A)
c.1689T>A (p.Asn563Lys)
c.870T>A (p.Asn290Lys)
c.1665T>A (p.Asn555Lys)
c.2085T>A (p.Asn695Lys)
c.798T>A (p.Asn266Lys)
n.1003T>A
c.2142T>A (p.Asn714Lys)
c.405T>A (p.Asn135Lys)
n.319T>A
c.1266T>A (p.Asn422Lys)
c.1904T>A
c.1767T>A (p.Asn589Lys)
n.1445T>A
c.1212T>A (p.Asn404Lys)
c.2157T>A (p.Asn719Lys)
c.2145T>A (p.Asn715Lys)
c.1764T>A (p.Asn588Lys)
c.1692T>A (p.Asn564Lys)
c.1191T>A (p.Asn397Lys)
c.2058T>A (p.Asn686Lys)
c.2004T>A (p.Asn668Lys)
c.2082T>A (p.Asn694Lys)
c.2067T>A (p.Asn689Lys)
c.1695T>A (p.Asn565Lys)
c.1983T>A (p.Asn661Lys)
c.1587T>A (p.Asn529Lys)
c.1299T>A (p.Asn433Lys)
c.1620T>A (p.Asn540Lys)
c.1533T>A (p.Asn511Lys)
c.1302T>A (p.Asn434Lys)
c.1227T>A (p.Asn409Lys)
c.1224T>A (p.Asn408Lys)
c.2070T>A (p.Asn690Lys)
c.1536T>A (p.Asn512Lys)
c.1617T>A (p.Asn539Lys)
c.2055T>A (p.Asn685Lys)
n.2225T>A
c.1188T>A (p.Asn396Lys)
n.2097T>A
14g.88610896T>CCA487280440ZC3H14c.2160T>C (p.Asn720=)
c.*1368T>C (n.*1368T>C)
c.1689T>C (p.Asn563=)
c.870T>C (p.Asn290=)
c.1665T>C (p.Asn555=)
c.2085T>C (p.Asn695=)
c.798T>C (p.Asn266=)
n.1003T>C
c.2142T>C (p.Asn714=)
c.405T>C (p.Asn135=)
n.319T>C
c.1266T>C (p.Asn422=)
c.1904T>C
c.1767T>C (p.Asn589=)
n.1445T>C
c.1212T>C (p.Asn404=)
c.2157T>C (p.Asn719=)
c.2145T>C (p.Asn715=)
c.1764T>C (p.Asn588=)
c.1692T>C (p.Asn564=)
c.1191T>C (p.Asn397=)
c.2058T>C (p.Asn686=)
c.2004T>C (p.Asn668=)
c.2082T>C (p.Asn694=)
c.2067T>C (p.Asn689=)
c.1695T>C (p.Asn565=)
c.1983T>C (p.Asn661=)
c.1587T>C (p.Asn529=)
c.1299T>C (p.Asn433=)
c.1620T>C (p.Asn540=)
c.1533T>C (p.Asn511=)
c.1302T>C (p.Asn434=)
c.1227T>C (p.Asn409=)
c.1224T>C (p.Asn408=)
c.2070T>C (p.Asn690=)
c.1536T>C (p.Asn512=)
c.1617T>C (p.Asn539=)
c.2055T>C (p.Asn685=)
n.2225T>C
c.1188T>C (p.Asn396=)
n.2097T>C
 dbSNP gnomAD v4
14g.88610896T>GCA390566155ZC3H14c.2160T>G (p.Asn720Lys)
c.*1368T>G (n.*1368T>G)
c.1689T>G (p.Asn563Lys)
c.870T>G (p.Asn290Lys)
c.1665T>G (p.Asn555Lys)
c.2085T>G (p.Asn695Lys)
c.798T>G (p.Asn266Lys)
n.1003T>G
c.2142T>G (p.Asn714Lys)
c.405T>G (p.Asn135Lys)
n.319T>G
c.1266T>G (p.Asn422Lys)
c.1904T>G
c.1767T>G (p.Asn589Lys)
n.1445T>G
c.1212T>G (p.Asn404Lys)
c.2157T>G (p.Asn719Lys)
c.2145T>G (p.Asn715Lys)
c.1764T>G (p.Asn588Lys)
c.1692T>G (p.Asn564Lys)
c.1191T>G (p.Asn397Lys)
c.2058T>G (p.Asn686Lys)
c.2004T>G (p.Asn668Lys)
c.2082T>G (p.Asn694Lys)
c.2067T>G (p.Asn689Lys)
c.1695T>G (p.Asn565Lys)
c.1983T>G (p.Asn661Lys)
c.1587T>G (p.Asn529Lys)
c.1299T>G (p.Asn433Lys)
c.1620T>G (p.Asn540Lys)
c.1533T>G (p.Asn511Lys)
c.1302T>G (p.Asn434Lys)
c.1227T>G (p.Asn409Lys)
c.1224T>G (p.Asn408Lys)
c.2070T>G (p.Asn690Lys)
c.1536T>G (p.Asn512Lys)
c.1617T>G (p.Asn539Lys)
c.2055T>G (p.Asn685Lys)
n.2225T>G
c.1188T>G (p.Asn396Lys)
n.2097T>G
14g.88610896T=CA2153694410ZC3H14c.2160T= (p.Asn720=)
c.*1368T= (n.*1368T=)
c.1689T= (p.Asn563=)
c.870T= (p.Asn290=)
c.1665T= (p.Asn555=)
c.2085T= (p.Asn695=)
c.798T= (p.Asn266=)
n.1003T=
c.2142T= (p.Asn714=)
c.405T= (p.Asn135=)
n.319T=
c.1266T= (p.Asn422=)
c.1904T=
c.1767T= (p.Asn589=)
n.1445T=
c.1212T= (p.Asn404=)
c.2157T= (p.Asn719=)
c.2145T= (p.Asn715=)
c.1764T= (p.Asn588=)
c.1692T= (p.Asn564=)
c.1191T= (p.Asn397=)
c.2058T= (p.Asn686=)
c.2004T= (p.Asn668=)
c.2082T= (p.Asn694=)
c.2067T= (p.Asn689=)
c.1695T= (p.Asn565=)
c.1983T= (p.Asn661=)
c.1587T= (p.Asn529=)
c.1299T= (p.Asn433=)
c.1620T= (p.Asn540=)
c.1533T= (p.Asn511=)
c.1302T= (p.Asn434=)
c.1227T= (p.Asn409=)
c.1224T= (p.Asn408=)
c.2070T= (p.Asn690=)
c.1536T= (p.Asn512=)
c.1617T= (p.Asn539=)
c.2055T= (p.Asn685=)
n.2225T=
c.1188T= (p.Asn396=)
n.2097T=
14g.88610897G>ACA390566159ZC3H14c.2161G>A (p.Val721Ile)
c.*1369G>A (n.*1369G>A)
c.1690G>A (p.Val564Ile)
c.871G>A (p.Val291Ile)
c.1666G>A (p.Val556Ile)
c.2086G>A (p.Val696Ile)
c.799G>A (p.Val267Ile)
n.1004G>A
c.2143G>A (p.Val715Ile)
c.406G>A (p.Val136Ile)
n.320G>A
c.1267G>A (p.Val423Ile)
c.1905G>A
c.1768G>A (p.Val590Ile)
n.1446G>A
c.1213G>A (p.Val405Ile)
c.2158G>A (p.Val720Ile)
c.2146G>A (p.Val716Ile)
c.1765G>A (p.Val589Ile)
c.1693G>A (p.Val565Ile)
c.1192G>A (p.Val398Ile)
c.2059G>A (p.Val687Ile)
c.2005G>A (p.Val669Ile)
c.2083G>A (p.Val695Ile)
c.2068G>A (p.Val690Ile)
c.1696G>A (p.Val566Ile)
c.1984G>A (p.Val662Ile)
c.1588G>A (p.Val530Ile)
c.1300G>A (p.Val434Ile)
c.1621G>A (p.Val541Ile)
c.1534G>A (p.Val512Ile)
c.1303G>A (p.Val435Ile)
c.1228G>A (p.Val410Ile)
c.1225G>A (p.Val409Ile)
c.2071G>A (p.Val691Ile)
c.1537G>A (p.Val513Ile)
c.1618G>A (p.Val540Ile)
c.2056G>A (p.Val686Ile)
n.2226G>A
c.1189G>A (p.Val397Ile)
n.2098G>A
14g.88610897G>CCA390566162ZC3H14c.2161G>C (p.Val721Leu)
c.*1369G>C (n.*1369G>C)
c.1690G>C (p.Val564Leu)
c.871G>C (p.Val291Leu)
c.1666G>C (p.Val556Leu)
c.2086G>C (p.Val696Leu)
c.799G>C (p.Val267Leu)
n.1004G>C
c.2143G>C (p.Val715Leu)
c.406G>C (p.Val136Leu)
n.320G>C
c.1267G>C (p.Val423Leu)
c.1905G>C
c.1768G>C (p.Val590Leu)
n.1446G>C
c.1213G>C (p.Val405Leu)
c.2158G>C (p.Val720Leu)
c.2146G>C (p.Val716Leu)
c.1765G>C (p.Val589Leu)
c.1693G>C (p.Val565Leu)
c.1192G>C (p.Val398Leu)
c.2059G>C (p.Val687Leu)
c.2005G>C (p.Val669Leu)
c.2083G>C (p.Val695Leu)
c.2068G>C (p.Val690Leu)
c.1696G>C (p.Val566Leu)
c.1984G>C (p.Val662Leu)
c.1588G>C (p.Val530Leu)
c.1300G>C (p.Val434Leu)
c.1621G>C (p.Val541Leu)
c.1534G>C (p.Val512Leu)
c.1303G>C (p.Val435Leu)
c.1228G>C (p.Val410Leu)
c.1225G>C (p.Val409Leu)
c.2071G>C (p.Val691Leu)
c.1537G>C (p.Val513Leu)
c.1618G>C (p.Val540Leu)
c.2056G>C (p.Val686Leu)
n.2226G>C
c.1189G>C (p.Val397Leu)
n.2098G>C
14g.88610897G>TCA390566160ZC3H14c.2161G>T (p.Val721Phe)
c.*1369G>T (n.*1369G>T)
c.1690G>T (p.Val564Phe)
c.871G>T (p.Val291Phe)
c.1666G>T (p.Val556Phe)
c.2086G>T (p.Val696Phe)
c.799G>T (p.Val267Phe)
n.1004G>T
c.2143G>T (p.Val715Phe)
c.406G>T (p.Val136Phe)
n.320G>T
c.1267G>T (p.Val423Phe)
c.1905G>T
c.1768G>T (p.Val590Phe)
n.1446G>T
c.1213G>T (p.Val405Phe)
c.2158G>T (p.Val720Phe)
c.2146G>T (p.Val716Phe)
c.1765G>T (p.Val589Phe)
c.1693G>T (p.Val565Phe)
c.1192G>T (p.Val398Phe)
c.2059G>T (p.Val687Phe)
c.2005G>T (p.Val669Phe)
c.2083G>T (p.Val695Phe)
c.2068G>T (p.Val690Phe)
c.1696G>T (p.Val566Phe)
c.1984G>T (p.Val662Phe)
c.1588G>T (p.Val530Phe)
c.1300G>T (p.Val434Phe)
c.1621G>T (p.Val541Phe)
c.1534G>T (p.Val512Phe)
c.1303G>T (p.Val435Phe)
c.1228G>T (p.Val410Phe)
c.1225G>T (p.Val409Phe)
c.2071G>T (p.Val691Phe)
c.1537G>T (p.Val513Phe)
c.1618G>T (p.Val540Phe)
c.2056G>T (p.Val686Phe)
n.2226G>T
c.1189G>T (p.Val397Phe)
n.2098G>T
14g.88610898T>ACA390566164ZC3H14c.2162T>A (p.Val721Asp)
c.*1370T>A (n.*1370T>A)
c.1691T>A (p.Val564Asp)
c.872T>A (p.Val291Asp)
c.1667T>A (p.Val556Asp)
c.2087T>A (p.Val696Asp)
c.800T>A (p.Val267Asp)
n.1005T>A
c.2144T>A (p.Val715Asp)
c.407T>A (p.Val136Asp)
n.321T>A
c.1268T>A (p.Val423Asp)
c.1906T>A
c.1769T>A (p.Val590Asp)
n.1447T>A
c.1214T>A (p.Val405Asp)
c.2159T>A (p.Val720Asp)
c.2147T>A (p.Val716Asp)
c.1766T>A (p.Val589Asp)
c.1694T>A (p.Val565Asp)
c.1193T>A (p.Val398Asp)
c.2060T>A (p.Val687Asp)
c.2006T>A (p.Val669Asp)
c.2084T>A (p.Val695Asp)
c.2069T>A (p.Val690Asp)
c.1697T>A (p.Val566Asp)
c.1985T>A (p.Val662Asp)
c.1589T>A (p.Val530Asp)
c.1301T>A (p.Val434Asp)
c.1622T>A (p.Val541Asp)
c.1535T>A (p.Val512Asp)
c.1304T>A (p.Val435Asp)
c.1229T>A (p.Val410Asp)
c.1226T>A (p.Val409Asp)
c.2072T>A (p.Val691Asp)
c.1538T>A (p.Val513Asp)
c.1619T>A (p.Val540Asp)
c.2057T>A (p.Val686Asp)
n.2227T>A
c.1190T>A (p.Val397Asp)
n.2099T>A
14g.88610898T>CCA390566167ZC3H14c.2162T>C (p.Val721Ala)
c.*1370T>C (n.*1370T>C)
c.1691T>C (p.Val564Ala)
c.872T>C (p.Val291Ala)
c.1667T>C (p.Val556Ala)
c.2087T>C (p.Val696Ala)
c.800T>C (p.Val267Ala)
n.1005T>C
c.2144T>C (p.Val715Ala)
c.407T>C (p.Val136Ala)
n.321T>C
c.1268T>C (p.Val423Ala)
c.1906T>C
c.1769T>C (p.Val590Ala)
n.1447T>C
c.1214T>C (p.Val405Ala)
c.2159T>C (p.Val720Ala)
c.2147T>C (p.Val716Ala)
c.1766T>C (p.Val589Ala)
c.1694T>C (p.Val565Ala)
c.1193T>C (p.Val398Ala)
c.2060T>C (p.Val687Ala)
c.2006T>C (p.Val669Ala)
c.2084T>C (p.Val695Ala)
c.2069T>C (p.Val690Ala)
c.1697T>C (p.Val566Ala)
c.1985T>C (p.Val662Ala)
c.1589T>C (p.Val530Ala)
c.1301T>C (p.Val434Ala)
c.1622T>C (p.Val541Ala)
c.1535T>C (p.Val512Ala)
c.1304T>C (p.Val435Ala)
c.1229T>C (p.Val410Ala)
c.1226T>C (p.Val409Ala)
c.2072T>C (p.Val691Ala)
c.1538T>C (p.Val513Ala)
c.1619T>C (p.Val540Ala)
c.2057T>C (p.Val686Ala)
n.2227T>C
c.1190T>C (p.Val397Ala)
n.2099T>C
14g.88610898T>GCA390566176ZC3H14c.2162T>G (p.Val721Gly)
c.*1370T>G (n.*1370T>G)
c.1691T>G (p.Val564Gly)
c.872T>G (p.Val291Gly)
c.1667T>G (p.Val556Gly)
c.2087T>G (p.Val696Gly)
c.800T>G (p.Val267Gly)
n.1005T>G
c.2144T>G (p.Val715Gly)
c.407T>G (p.Val136Gly)
n.321T>G
c.1268T>G (p.Val423Gly)
c.1906T>G
c.1769T>G (p.Val590Gly)
n.1447T>G
c.1214T>G (p.Val405Gly)
c.2159T>G (p.Val720Gly)
c.2147T>G (p.Val716Gly)
c.1766T>G (p.Val589Gly)
c.1694T>G (p.Val565Gly)
c.1193T>G (p.Val398Gly)
c.2060T>G (p.Val687Gly)
c.2006T>G (p.Val669Gly)
c.2084T>G (p.Val695Gly)
c.2069T>G (p.Val690Gly)
c.1697T>G (p.Val566Gly)
c.1985T>G (p.Val662Gly)
c.1589T>G (p.Val530Gly)
c.1301T>G (p.Val434Gly)
c.1622T>G (p.Val541Gly)
c.1535T>G (p.Val512Gly)
c.1304T>G (p.Val435Gly)
c.1229T>G (p.Val410Gly)
c.1226T>G (p.Val409Gly)
c.2072T>G (p.Val691Gly)
c.1538T>G (p.Val513Gly)
c.1619T>G (p.Val540Gly)
c.2057T>G (p.Val686Gly)
n.2227T>G
c.1190T>G (p.Val397Gly)
n.2099T>G
14g.88610899C>ACA487280441ZC3H14c.2163C>A (p.Val721=)
c.*1371C>A (n.*1371C>A)
c.1692C>A (p.Val564=)
c.873C>A (p.Val291=)
c.1668C>A (p.Val556=)
c.2088C>A (p.Val696=)
c.801C>A (p.Val267=)
n.1006C>A
c.2145C>A (p.Val715=)
c.408C>A (p.Val136=)
n.322C>A
c.1269C>A (p.Val423=)
c.1907C>A
c.1770C>A (p.Val590=)
n.1448C>A
c.1215C>A (p.Val405=)
c.2160C>A (p.Val720=)
c.2148C>A (p.Val716=)
c.1767C>A (p.Val589=)
c.1695C>A (p.Val565=)
c.1194C>A (p.Val398=)
c.2061C>A (p.Val687=)
c.2007C>A (p.Val669=)
c.2085C>A (p.Val695=)
c.2070C>A (p.Val690=)
c.1698C>A (p.Val566=)
c.1986C>A (p.Val662=)
c.1590C>A (p.Val530=)
c.1302C>A (p.Val434=)
c.1623C>A (p.Val541=)
c.1536C>A (p.Val512=)
c.1305C>A (p.Val435=)
c.1230C>A (p.Val410=)
c.1227C>A (p.Val409=)
c.2073C>A (p.Val691=)
c.1539C>A (p.Val513=)
c.1620C>A (p.Val540=)
c.2058C>A (p.Val686=)
n.2228C>A
c.1191C>A (p.Val397=)
n.2100C>A
14g.88610899C>GCA487280442ZC3H14c.2163C>G (p.Val721=)
c.*1371C>G (n.*1371C>G)
c.1692C>G (p.Val564=)
c.873C>G (p.Val291=)
c.1668C>G (p.Val556=)
c.2088C>G (p.Val696=)
c.801C>G (p.Val267=)
n.1006C>G
c.2145C>G (p.Val715=)
c.408C>G (p.Val136=)
n.322C>G
c.1269C>G (p.Val423=)
c.1907C>G
c.1770C>G (p.Val590=)
n.1448C>G
c.1215C>G (p.Val405=)
c.2160C>G (p.Val720=)
c.2148C>G (p.Val716=)
c.1767C>G (p.Val589=)
c.1695C>G (p.Val565=)
c.1194C>G (p.Val398=)
c.2061C>G (p.Val687=)
c.2007C>G (p.Val669=)
c.2085C>G (p.Val695=)
c.2070C>G (p.Val690=)
c.1698C>G (p.Val566=)
c.1986C>G (p.Val662=)
c.1590C>G (p.Val530=)
c.1302C>G (p.Val434=)
c.1623C>G (p.Val541=)
c.1536C>G (p.Val512=)
c.1305C>G (p.Val435=)
c.1230C>G (p.Val410=)
c.1227C>G (p.Val409=)
c.2073C>G (p.Val691=)
c.1539C>G (p.Val513=)
c.1620C>G (p.Val540=)
c.2058C>G (p.Val686=)
n.2228C>G
c.1191C>G (p.Val397=)
n.2100C>G
14g.88610899C>TCA487280443ZC3H14c.2163C>T (p.Val721=)
c.*1371C>T (n.*1371C>T)
c.1692C>T (p.Val564=)
c.873C>T (p.Val291=)
c.1668C>T (p.Val556=)
c.2088C>T (p.Val696=)
c.801C>T (p.Val267=)
n.1006C>T
c.2145C>T (p.Val715=)
c.408C>T (p.Val136=)
n.322C>T
c.1269C>T (p.Val423=)
c.1907C>T
c.1770C>T (p.Val590=)
n.1448C>T
c.1215C>T (p.Val405=)
c.2160C>T (p.Val720=)
c.2148C>T (p.Val716=)
c.1767C>T (p.Val589=)
c.1695C>T (p.Val565=)
c.1194C>T (p.Val398=)
c.2061C>T (p.Val687=)
c.2007C>T (p.Val669=)
c.2085C>T (p.Val695=)
c.2070C>T (p.Val690=)
c.1698C>T (p.Val566=)
c.1986C>T (p.Val662=)
c.1590C>T (p.Val530=)
c.1302C>T (p.Val434=)
c.1623C>T (p.Val541=)
c.1536C>T (p.Val512=)
c.1305C>T (p.Val435=)
c.1230C>T (p.Val410=)
c.1227C>T (p.Val409=)
c.2073C>T (p.Val691=)
c.1539C>T (p.Val513=)
c.1620C>T (p.Val540=)
c.2058C>T (p.Val686=)
n.2228C>T
c.1191C>T (p.Val397=)
n.2100C>T
14g.88610900C>ACA390566179ZC3H14c.2164C>A (p.Pro722Thr)
c.*1372C>A (n.*1372C>A)
c.1693C>A (p.Pro565Thr)
c.874C>A (p.Pro292Thr)
c.1669C>A (p.Pro557Thr)
c.2089C>A (p.Pro697Thr)
c.802C>A (p.Pro268Thr)
n.1007C>A
c.2146C>A (p.Pro716Thr)
c.409C>A (p.Pro137Thr)
n.323C>A
c.1270C>A (p.Pro424Thr)
c.1908C>A
c.1771C>A (p.Pro591Thr)
n.1449C>A
c.1216C>A (p.Pro406Thr)
c.2161C>A (p.Pro721Thr)
c.2149C>A (p.Pro717Thr)
c.1768C>A (p.Pro590Thr)
c.1696C>A (p.Pro566Thr)
c.1195C>A (p.Pro399Thr)
c.2062C>A (p.Pro688Thr)
c.2008C>A (p.Pro670Thr)
c.2086C>A (p.Pro696Thr)
c.2071C>A (p.Pro691Thr)
c.1699C>A (p.Pro567Thr)
c.1987C>A (p.Pro663Thr)
c.1591C>A (p.Pro531Thr)
c.1303C>A (p.Pro435Thr)
c.1624C>A (p.Pro542Thr)
c.1537C>A (p.Pro513Thr)
c.1306C>A (p.Pro436Thr)
c.1231C>A (p.Pro411Thr)
c.1228C>A (p.Pro410Thr)
c.2074C>A (p.Pro692Thr)
c.1540C>A (p.Pro514Thr)
c.1621C>A (p.Pro541Thr)
c.2059C>A (p.Pro687Thr)
n.2229C>A
c.1192C>A (p.Pro398Thr)
n.2101C>A
14g.88610900C>GCA390566182ZC3H14c.2164C>G (p.Pro722Ala)
c.*1372C>G (n.*1372C>G)
c.1693C>G (p.Pro565Ala)
c.874C>G (p.Pro292Ala)
c.1669C>G (p.Pro557Ala)
c.2089C>G (p.Pro697Ala)
c.802C>G (p.Pro268Ala)
n.1007C>G
c.2146C>G (p.Pro716Ala)
c.409C>G (p.Pro137Ala)
n.323C>G
c.1270C>G (p.Pro424Ala)
c.1908C>G
c.1771C>G (p.Pro591Ala)
n.1449C>G
c.1216C>G (p.Pro406Ala)
c.2161C>G (p.Pro721Ala)
c.2149C>G (p.Pro717Ala)
c.1768C>G (p.Pro590Ala)
c.1696C>G (p.Pro566Ala)
c.1195C>G (p.Pro399Ala)
c.2062C>G (p.Pro688Ala)
c.2008C>G (p.Pro670Ala)
c.2086C>G (p.Pro696Ala)
c.2071C>G (p.Pro691Ala)
c.1699C>G (p.Pro567Ala)
c.1987C>G (p.Pro663Ala)
c.1591C>G (p.Pro531Ala)
c.1303C>G (p.Pro435Ala)
c.1624C>G (p.Pro542Ala)
c.1537C>G (p.Pro513Ala)
c.1306C>G (p.Pro436Ala)
c.1231C>G (p.Pro411Ala)
c.1228C>G (p.Pro410Ala)
c.2074C>G (p.Pro692Ala)
c.1540C>G (p.Pro514Ala)
c.1621C>G (p.Pro541Ala)
c.2059C>G (p.Pro687Ala)
n.2229C>G
c.1192C>G (p.Pro398Ala)
n.2101C>G
14g.88610900C>TCA390566188ZC3H14c.2164C>T (p.Pro722Ser)
c.*1372C>T (n.*1372C>T)
c.1693C>T (p.Pro565Ser)
c.874C>T (p.Pro292Ser)
c.1669C>T (p.Pro557Ser)
c.2089C>T (p.Pro697Ser)
c.802C>T (p.Pro268Ser)
n.1007C>T
c.2146C>T (p.Pro716Ser)
c.409C>T (p.Pro137Ser)
n.323C>T
c.1270C>T (p.Pro424Ser)
c.1908C>T
c.1771C>T (p.Pro591Ser)
n.1449C>T
c.1216C>T (p.Pro406Ser)
c.2161C>T (p.Pro721Ser)
c.2149C>T (p.Pro717Ser)
c.1768C>T (p.Pro590Ser)
c.1696C>T (p.Pro566Ser)
c.1195C>T (p.Pro399Ser)
c.2062C>T (p.Pro688Ser)
c.2008C>T (p.Pro670Ser)
c.2086C>T (p.Pro696Ser)
c.2071C>T (p.Pro691Ser)
c.1699C>T (p.Pro567Ser)
c.1987C>T (p.Pro663Ser)
c.1591C>T (p.Pro531Ser)
c.1303C>T (p.Pro435Ser)
c.1624C>T (p.Pro542Ser)
c.1537C>T (p.Pro513Ser)
c.1306C>T (p.Pro436Ser)
c.1231C>T (p.Pro411Ser)
c.1228C>T (p.Pro410Ser)
c.2074C>T (p.Pro692Ser)
c.1540C>T (p.Pro514Ser)
c.1621C>T (p.Pro541Ser)
c.2059C>T (p.Pro687Ser)
n.2229C>T
c.1192C>T (p.Pro398Ser)
n.2101C>T
 gnomAD v4
14g.88610901C>ACA390566191ZC3H14c.2165C>A (p.Pro722Gln)
c.*1373C>A (n.*1373C>A)
c.1694C>A (p.Pro565Gln)
c.875C>A (p.Pro292Gln)
c.1670C>A (p.Pro557Gln)
c.2090C>A (p.Pro697Gln)
c.803C>A (p.Pro268Gln)
n.1008C>A
c.2147C>A (p.Pro716Gln)
c.410C>A (p.Pro137Gln)
n.324C>A
c.1271C>A (p.Pro424Gln)
c.1909C>A
c.1772C>A (p.Pro591Gln)
n.1450C>A
c.1217C>A (p.Pro406Gln)
c.2162C>A (p.Pro721Gln)
c.2150C>A (p.Pro717Gln)
c.1769C>A (p.Pro590Gln)
c.1697C>A (p.Pro566Gln)
c.1196C>A (p.Pro399Gln)
c.2063C>A (p.Pro688Gln)
c.2009C>A (p.Pro670Gln)
c.2087C>A (p.Pro696Gln)
c.2072C>A (p.Pro691Gln)
c.1700C>A (p.Pro567Gln)
c.1988C>A (p.Pro663Gln)
c.1592C>A (p.Pro531Gln)
c.1304C>A (p.Pro435Gln)
c.1625C>A (p.Pro542Gln)
c.1538C>A (p.Pro513Gln)
c.1307C>A (p.Pro436Gln)
c.1232C>A (p.Pro411Gln)
c.1229C>A (p.Pro410Gln)
c.2075C>A (p.Pro692Gln)
c.1541C>A (p.Pro514Gln)
c.1622C>A (p.Pro541Gln)
c.2060C>A (p.Pro687Gln)
n.2230C>A
c.1193C>A (p.Pro398Gln)
n.2102C>A
14g.88610901C>GCA390566194ZC3H14c.2165C>G (p.Pro722Arg)
c.*1373C>G (n.*1373C>G)
c.1694C>G (p.Pro565Arg)
c.875C>G (p.Pro292Arg)
c.1670C>G (p.Pro557Arg)
c.2090C>G (p.Pro697Arg)
c.803C>G (p.Pro268Arg)
n.1008C>G
c.2147C>G (p.Pro716Arg)
c.410C>G (p.Pro137Arg)
n.324C>G
c.1271C>G (p.Pro424Arg)
c.1909C>G
c.1772C>G (p.Pro591Arg)
n.1450C>G
c.1217C>G (p.Pro406Arg)
c.2162C>G (p.Pro721Arg)
c.2150C>G (p.Pro717Arg)
c.1769C>G (p.Pro590Arg)
c.1697C>G (p.Pro566Arg)
c.1196C>G (p.Pro399Arg)
c.2063C>G (p.Pro688Arg)
c.2009C>G (p.Pro670Arg)
c.2087C>G (p.Pro696Arg)
c.2072C>G (p.Pro691Arg)
c.1700C>G (p.Pro567Arg)
c.1988C>G (p.Pro663Arg)
c.1592C>G (p.Pro531Arg)
c.1304C>G (p.Pro435Arg)
c.1625C>G (p.Pro542Arg)
c.1538C>G (p.Pro513Arg)
c.1307C>G (p.Pro436Arg)
c.1232C>G (p.Pro411Arg)
c.1229C>G (p.Pro410Arg)
c.2075C>G (p.Pro692Arg)
c.1541C>G (p.Pro514Arg)
c.1622C>G (p.Pro541Arg)
c.2060C>G (p.Pro687Arg)
n.2230C>G
c.1193C>G (p.Pro398Arg)
n.2102C>G
14g.88610901C>TCA390566202ZC3H14c.2165C>T (p.Pro722Leu)
c.*1373C>T (n.*1373C>T)
c.1694C>T (p.Pro565Leu)
c.875C>T (p.Pro292Leu)
c.1670C>T (p.Pro557Leu)
c.2090C>T (p.Pro697Leu)
c.803C>T (p.Pro268Leu)
n.1008C>T
c.2147C>T (p.Pro716Leu)
c.410C>T (p.Pro137Leu)
n.324C>T
c.1271C>T (p.Pro424Leu)
c.1909C>T
c.1772C>T (p.Pro591Leu)
n.1450C>T
c.1217C>T (p.Pro406Leu)
c.2162C>T (p.Pro721Leu)
c.2150C>T (p.Pro717Leu)
c.1769C>T (p.Pro590Leu)
c.1697C>T (p.Pro566Leu)
c.1196C>T (p.Pro399Leu)
c.2063C>T (p.Pro688Leu)
c.2009C>T (p.Pro670Leu)
c.2087C>T (p.Pro696Leu)
c.2072C>T (p.Pro691Leu)
c.1700C>T (p.Pro567Leu)
c.1988C>T (p.Pro663Leu)
c.1592C>T (p.Pro531Leu)
c.1304C>T (p.Pro435Leu)
c.1625C>T (p.Pro542Leu)
c.1538C>T (p.Pro513Leu)
c.1307C>T (p.Pro436Leu)
c.1232C>T (p.Pro411Leu)
c.1229C>T (p.Pro410Leu)
c.2075C>T (p.Pro692Leu)
c.1541C>T (p.Pro514Leu)
c.1622C>T (p.Pro541Leu)
c.2060C>T (p.Pro687Leu)
n.2230C>T
c.1193C>T (p.Pro398Leu)
n.2102C>T
14g.88610902A>CCA487280444ZC3H14c.2166A>C (p.Pro722=)
c.*1374A>C (n.*1374A>C)
c.1695A>C (p.Pro565=)
c.876A>C (p.Pro292=)
c.1671A>C (p.Pro557=)
c.2091A>C (p.Pro697=)
c.804A>C (p.Pro268=)
n.1009A>C
c.2148A>C (p.Pro716=)
c.411A>C (p.Pro137=)
n.325A>C
c.1272A>C (p.Pro424=)
c.1910A>C
c.1773A>C (p.Pro591=)
n.1451A>C
c.1218A>C (p.Pro406=)
c.2163A>C (p.Pro721=)
c.2151A>C (p.Pro717=)
c.1770A>C (p.Pro590=)
c.1698A>C (p.Pro566=)
c.1197A>C (p.Pro399=)
c.2064A>C (p.Pro688=)
c.2010A>C (p.Pro670=)
c.2088A>C (p.Pro696=)
c.2073A>C (p.Pro691=)
c.1701A>C (p.Pro567=)
c.1989A>C (p.Pro663=)
c.1593A>C (p.Pro531=)
c.1305A>C (p.Pro435=)
c.1626A>C (p.Pro542=)
c.1539A>C (p.Pro513=)
c.1308A>C (p.Pro436=)
c.1233A>C (p.Pro411=)
c.1230A>C (p.Pro410=)
c.2076A>C (p.Pro692=)
c.1542A>C (p.Pro514=)
c.1623A>C (p.Pro541=)
c.2061A>C (p.Pro687=)
n.2231A>C
c.1194A>C (p.Pro398=)
n.2103A>C
14g.88610902A>GCA487280445ZC3H14c.2166A>G (p.Pro722=)
c.*1374A>G (n.*1374A>G)
c.1695A>G (p.Pro565=)
c.876A>G (p.Pro292=)
c.1671A>G (p.Pro557=)
c.2091A>G (p.Pro697=)
c.804A>G (p.Pro268=)
n.1009A>G
c.2148A>G (p.Pro716=)
c.411A>G (p.Pro137=)
n.325A>G
c.1272A>G (p.Pro424=)
c.1910A>G
c.1773A>G (p.Pro591=)
n.1451A>G
c.1218A>G (p.Pro406=)
c.2163A>G (p.Pro721=)
c.2151A>G (p.Pro717=)
c.1770A>G (p.Pro590=)
c.1698A>G (p.Pro566=)
c.1197A>G (p.Pro399=)
c.2064A>G (p.Pro688=)
c.2010A>G (p.Pro670=)
c.2088A>G (p.Pro696=)
c.2073A>G (p.Pro691=)
c.1701A>G (p.Pro567=)
c.1989A>G (p.Pro663=)
c.1593A>G (p.Pro531=)
c.1305A>G (p.Pro435=)
c.1626A>G (p.Pro542=)
c.1539A>G (p.Pro513=)
c.1308A>G (p.Pro436=)
c.1233A>G (p.Pro411=)
c.1230A>G (p.Pro410=)
c.2076A>G (p.Pro692=)
c.1542A>G (p.Pro514=)
c.1623A>G (p.Pro541=)
c.2061A>G (p.Pro687=)
n.2231A>G
c.1194A>G (p.Pro398=)
n.2103A>G
14g.88610902A>TCA487280446ZC3H14c.2166A>T (p.Pro722=)
c.*1374A>T (n.*1374A>T)
c.1695A>T (p.Pro565=)
c.876A>T (p.Pro292=)
c.1671A>T (p.Pro557=)
c.2091A>T (p.Pro697=)
c.804A>T (p.Pro268=)
n.1009A>T
c.2148A>T (p.Pro716=)
c.411A>T (p.Pro137=)
n.325A>T
c.1272A>T (p.Pro424=)
c.1910A>T
c.1773A>T (p.Pro591=)
n.1451A>T
c.1218A>T (p.Pro406=)
c.2163A>T (p.Pro721=)
c.2151A>T (p.Pro717=)
c.1770A>T (p.Pro590=)
c.1698A>T (p.Pro566=)
c.1197A>T (p.Pro399=)
c.2064A>T (p.Pro688=)
c.2010A>T (p.Pro670=)
c.2088A>T (p.Pro696=)
c.2073A>T (p.Pro691=)
c.1701A>T (p.Pro567=)
c.1989A>T (p.Pro663=)
c.1593A>T (p.Pro531=)
c.1305A>T (p.Pro435=)
c.1626A>T (p.Pro542=)
c.1539A>T (p.Pro513=)
c.1308A>T (p.Pro436=)
c.1233A>T (p.Pro411=)
c.1230A>T (p.Pro410=)
c.2076A>T (p.Pro692=)
c.1542A>T (p.Pro514=)
c.1623A>T (p.Pro541=)
c.2061A>T (p.Pro687=)
n.2231A>T
c.1194A>T (p.Pro398=)
n.2103A>T
14g.88610903C>ACA390566209ZC3H14c.2167C>A (p.Pro723Thr)
c.*1375C>A (n.*1375C>A)
c.1696C>A (p.Pro566Thr)
c.877C>A (p.Pro293Thr)
c.1672C>A (p.Pro558Thr)
c.2092C>A (p.Pro698Thr)
c.805C>A (p.Pro269Thr)
n.1010C>A
c.2149C>A (p.Pro717Thr)
c.412C>A (p.Pro138Thr)
n.326C>A
c.1273C>A (p.Pro425Thr)
c.1911C>A
c.1774C>A (p.Pro592Thr)
n.1452C>A
c.1219C>A (p.Pro407Thr)
c.2164C>A (p.Pro722Thr)
c.2152C>A (p.Pro718Thr)
c.1771C>A (p.Pro591Thr)
c.1699C>A (p.Pro567Thr)
c.1198C>A (p.Pro400Thr)
c.2065C>A (p.Pro689Thr)
c.2011C>A (p.Pro671Thr)
c.2089C>A (p.Pro697Thr)
c.2074C>A (p.Pro692Thr)
c.1702C>A (p.Pro568Thr)
c.1990C>A (p.Pro664Thr)
c.1594C>A (p.Pro532Thr)
c.1306C>A (p.Pro436Thr)
c.1627C>A (p.Pro543Thr)
c.1540C>A (p.Pro514Thr)
c.1309C>A (p.Pro437Thr)
c.1234C>A (p.Pro412Thr)
c.1231C>A (p.Pro411Thr)
c.2077C>A (p.Pro693Thr)
c.1543C>A (p.Pro515Thr)
c.1624C>A (p.Pro542Thr)
c.2062C>A (p.Pro688Thr)
n.2232C>A
c.1195C>A (p.Pro399Thr)
n.2104C>A
14g.88610903C>GCA390566212ZC3H14c.2167C>G (p.Pro723Ala)
c.*1375C>G (n.*1375C>G)
c.1696C>G (p.Pro566Ala)
c.877C>G (p.Pro293Ala)
c.1672C>G (p.Pro558Ala)
c.2092C>G (p.Pro698Ala)
c.805C>G (p.Pro269Ala)
n.1010C>G
c.2149C>G (p.Pro717Ala)
c.412C>G (p.Pro138Ala)
n.326C>G
c.1273C>G (p.Pro425Ala)
c.1911C>G
c.1774C>G (p.Pro592Ala)
n.1452C>G
c.1219C>G (p.Pro407Ala)
c.2164C>G (p.Pro722Ala)
c.2152C>G (p.Pro718Ala)
c.1771C>G (p.Pro591Ala)
c.1699C>G (p.Pro567Ala)
c.1198C>G (p.Pro400Ala)
c.2065C>G (p.Pro689Ala)
c.2011C>G (p.Pro671Ala)
c.2089C>G (p.Pro697Ala)
c.2074C>G (p.Pro692Ala)
c.1702C>G (p.Pro568Ala)
c.1990C>G (p.Pro664Ala)
c.1594C>G (p.Pro532Ala)
c.1306C>G (p.Pro436Ala)
c.1627C>G (p.Pro543Ala)
c.1540C>G (p.Pro514Ala)
c.1309C>G (p.Pro437Ala)
c.1234C>G (p.Pro412Ala)
c.1231C>G (p.Pro411Ala)
c.2077C>G (p.Pro693Ala)
c.1543C>G (p.Pro515Ala)
c.1624C>G (p.Pro542Ala)
c.2062C>G (p.Pro688Ala)
n.2232C>G
c.1195C>G (p.Pro399Ala)
n.2104C>G
 gnomAD v4
14g.88610903C>TCA390566217ZC3H14c.2167C>T (p.Pro723Ser)
c.*1375C>T (n.*1375C>T)
c.1696C>T (p.Pro566Ser)
c.877C>T (p.Pro293Ser)
c.1672C>T (p.Pro558Ser)
c.2092C>T (p.Pro698Ser)
c.805C>T (p.Pro269Ser)
n.1010C>T
c.2149C>T (p.Pro717Ser)
c.412C>T (p.Pro138Ser)
n.326C>T
c.1273C>T (p.Pro425Ser)
c.1911C>T
c.1774C>T (p.Pro592Ser)
n.1452C>T
c.1219C>T (p.Pro407Ser)
c.2164C>T (p.Pro722Ser)
c.2152C>T (p.Pro718Ser)
c.1771C>T (p.Pro591Ser)
c.1699C>T (p.Pro567Ser)
c.1198C>T (p.Pro400Ser)
c.2065C>T (p.Pro689Ser)
c.2011C>T (p.Pro671Ser)
c.2089C>T (p.Pro697Ser)
c.2074C>T (p.Pro692Ser)
c.1702C>T (p.Pro568Ser)
c.1990C>T (p.Pro664Ser)
c.1594C>T (p.Pro532Ser)
c.1306C>T (p.Pro436Ser)
c.1627C>T (p.Pro543Ser)
c.1540C>T (p.Pro514Ser)
c.1309C>T (p.Pro437Ser)
c.1234C>T (p.Pro412Ser)
c.1231C>T (p.Pro411Ser)
c.2077C>T (p.Pro693Ser)
c.1543C>T (p.Pro515Ser)
c.1624C>T (p.Pro542Ser)
c.2062C>T (p.Pro688Ser)
n.2232C>T
c.1195C>T (p.Pro399Ser)
n.2104C>T
14g.88610904C>ACA390566231ZC3H14c.2168C>A (p.Pro723Gln)
c.*1376C>A (n.*1376C>A)
c.1697C>A (p.Pro566Gln)
c.878C>A (p.Pro293Gln)
c.1673C>A (p.Pro558Gln)
c.2093C>A (p.Pro698Gln)
c.806C>A (p.Pro269Gln)
n.1011C>A
c.2150C>A (p.Pro717Gln)
c.413C>A (p.Pro138Gln)
n.327C>A
c.1274C>A (p.Pro425Gln)
c.1912C>A
c.1775C>A (p.Pro592Gln)
n.1453C>A
c.1220C>A (p.Pro407Gln)
c.2165C>A (p.Pro722Gln)
c.2153C>A (p.Pro718Gln)
c.1772C>A (p.Pro591Gln)
c.1700C>A (p.Pro567Gln)
c.1199C>A (p.Pro400Gln)
c.2066C>A (p.Pro689Gln)
c.2012C>A (p.Pro671Gln)
c.2090C>A (p.Pro697Gln)
c.2075C>A (p.Pro692Gln)
c.1703C>A (p.Pro568Gln)
c.1991C>A (p.Pro664Gln)
c.1595C>A (p.Pro532Gln)
c.1307C>A (p.Pro436Gln)
c.1628C>A (p.Pro543Gln)
c.1541C>A (p.Pro514Gln)
c.1310C>A (p.Pro437Gln)
c.1235C>A (p.Pro412Gln)
c.1232C>A (p.Pro411Gln)
c.2078C>A (p.Pro693Gln)
c.1544C>A (p.Pro515Gln)
c.1625C>A (p.Pro542Gln)
c.2063C>A (p.Pro688Gln)
n.2233C>A
c.1196C>A (p.Pro399Gln)
n.2105C>A
14g.88610904C>GCA390566226ZC3H14c.2168C>G (p.Pro723Arg)
c.*1376C>G (n.*1376C>G)
c.1697C>G (p.Pro566Arg)
c.878C>G (p.Pro293Arg)
c.1673C>G (p.Pro558Arg)
c.2093C>G (p.Pro698Arg)
c.806C>G (p.Pro269Arg)
n.1011C>G
c.2150C>G (p.Pro717Arg)
c.413C>G (p.Pro138Arg)
n.327C>G
c.1274C>G (p.Pro425Arg)
c.1912C>G
c.1775C>G (p.Pro592Arg)
n.1453C>G
c.1220C>G (p.Pro407Arg)
c.2165C>G (p.Pro722Arg)
c.2153C>G (p.Pro718Arg)
c.1772C>G (p.Pro591Arg)
c.1700C>G (p.Pro567Arg)
c.1199C>G (p.Pro400Arg)
c.2066C>G (p.Pro689Arg)
c.2012C>G (p.Pro671Arg)
c.2090C>G (p.Pro697Arg)
c.2075C>G (p.Pro692Arg)
c.1703C>G (p.Pro568Arg)
c.1991C>G (p.Pro664Arg)
c.1595C>G (p.Pro532Arg)
c.1307C>G (p.Pro436Arg)
c.1628C>G (p.Pro543Arg)
c.1541C>G (p.Pro514Arg)
c.1310C>G (p.Pro437Arg)
c.1235C>G (p.Pro412Arg)
c.1232C>G (p.Pro411Arg)
c.2078C>G (p.Pro693Arg)
c.1544C>G (p.Pro515Arg)
c.1625C>G (p.Pro542Arg)
c.2063C>G (p.Pro688Arg)
n.2233C>G
c.1196C>G (p.Pro399Arg)
n.2105C>G
14g.88610904C>TCA390566228ZC3H14c.2168C>T (p.Pro723Leu)
c.*1376C>T (n.*1376C>T)
c.1697C>T (p.Pro566Leu)
c.878C>T (p.Pro293Leu)
c.1673C>T (p.Pro558Leu)
c.2093C>T (p.Pro698Leu)
c.806C>T (p.Pro269Leu)
n.1011C>T
c.2150C>T (p.Pro717Leu)
c.413C>T (p.Pro138Leu)
n.327C>T
c.1274C>T (p.Pro425Leu)
c.1912C>T
c.1775C>T (p.Pro592Leu)
n.1453C>T
c.1220C>T (p.Pro407Leu)
c.2165C>T (p.Pro722Leu)
c.2153C>T (p.Pro718Leu)
c.1772C>T (p.Pro591Leu)
c.1700C>T (p.Pro567Leu)
c.1199C>T (p.Pro400Leu)
c.2066C>T (p.Pro689Leu)
c.2012C>T (p.Pro671Leu)
c.2090C>T (p.Pro697Leu)
c.2075C>T (p.Pro692Leu)
c.1703C>T (p.Pro568Leu)
c.1991C>T (p.Pro664Leu)
c.1595C>T (p.Pro532Leu)
c.1307C>T (p.Pro436Leu)
c.1628C>T (p.Pro543Leu)
c.1541C>T (p.Pro514Leu)
c.1310C>T (p.Pro437Leu)
c.1235C>T (p.Pro412Leu)
c.1232C>T (p.Pro411Leu)
c.2078C>T (p.Pro693Leu)
c.1544C>T (p.Pro515Leu)
c.1625C>T (p.Pro542Leu)
c.2063C>T (p.Pro688Leu)
n.2233C>T
c.1196C>T (p.Pro399Leu)
n.2105C>T
14g.88610905A>CCA487280447ZC3H14c.2169A>C (p.Pro723=)
c.*1377A>C (n.*1377A>C)
c.1698A>C (p.Pro566=)
c.879A>C (p.Pro293=)
c.1674A>C (p.Pro558=)
c.2094A>C (p.Pro698=)
c.807A>C (p.Pro269=)
n.1012A>C
c.2151A>C (p.Pro717=)
c.414A>C (p.Pro138=)
n.328A>C
c.1275A>C (p.Pro425=)
c.1913A>C
c.1776A>C (p.Pro592=)
n.1454A>C
c.1221A>C (p.Pro407=)
c.2166A>C (p.Pro722=)
c.2154A>C (p.Pro718=)
c.1773A>C (p.Pro591=)
c.1701A>C (p.Pro567=)
c.1200A>C (p.Pro400=)
c.2067A>C (p.Pro689=)
c.2013A>C (p.Pro671=)
c.2091A>C (p.Pro697=)
c.2076A>C (p.Pro692=)
c.1704A>C (p.Pro568=)
c.1992A>C (p.Pro664=)
c.1596A>C (p.Pro532=)
c.1308A>C (p.Pro436=)
c.1629A>C (p.Pro543=)
c.1542A>C (p.Pro514=)
c.1311A>C (p.Pro437=)
c.1236A>C (p.Pro412=)
c.1233A>C (p.Pro411=)
c.2079A>C (p.Pro693=)
c.1545A>C (p.Pro515=)
c.1626A>C (p.Pro542=)
c.2064A>C (p.Pro688=)
n.2234A>C
c.1197A>C (p.Pro399=)
n.2106A>C
14g.88610905A>GCA487280448ZC3H14c.2169A>G (p.Pro723=)
c.*1377A>G (n.*1377A>G)
c.1698A>G (p.Pro566=)
c.879A>G (p.Pro293=)
c.1674A>G (p.Pro558=)
c.2094A>G (p.Pro698=)
c.807A>G (p.Pro269=)
n.1012A>G
c.2151A>G (p.Pro717=)
c.414A>G (p.Pro138=)
n.328A>G
c.1275A>G (p.Pro425=)
c.1913A>G
c.1776A>G (p.Pro592=)
n.1454A>G
c.1221A>G (p.Pro407=)
c.2166A>G (p.Pro722=)
c.2154A>G (p.Pro718=)
c.1773A>G (p.Pro591=)
c.1701A>G (p.Pro567=)
c.1200A>G (p.Pro400=)
c.2067A>G (p.Pro689=)
c.2013A>G (p.Pro671=)
c.2091A>G (p.Pro697=)
c.2076A>G (p.Pro692=)
c.1704A>G (p.Pro568=)
c.1992A>G (p.Pro664=)
c.1596A>G (p.Pro532=)
c.1308A>G (p.Pro436=)
c.1629A>G (p.Pro543=)
c.1542A>G (p.Pro514=)
c.1311A>G (p.Pro437=)
c.1236A>G (p.Pro412=)
c.1233A>G (p.Pro411=)
c.2079A>G (p.Pro693=)
c.1545A>G (p.Pro515=)
c.1626A>G (p.Pro542=)
c.2064A>G (p.Pro688=)
n.2234A>G
c.1197A>G (p.Pro399=)
n.2106A>G
14g.88610905A>TCA487280449ZC3H14c.2169A>T (p.Pro723=)
c.*1377A>T (n.*1377A>T)
c.1698A>T (p.Pro566=)
c.879A>T (p.Pro293=)
c.1674A>T (p.Pro558=)
c.2094A>T (p.Pro698=)
c.807A>T (p.Pro269=)
n.1012A>T
c.2151A>T (p.Pro717=)
c.414A>T (p.Pro138=)
n.328A>T
c.1275A>T (p.Pro425=)
c.1913A>T
c.1776A>T (p.Pro592=)
n.1454A>T
c.1221A>T (p.Pro407=)
c.2166A>T (p.Pro722=)
c.2154A>T (p.Pro718=)
c.1773A>T (p.Pro591=)
c.1701A>T (p.Pro567=)
c.1200A>T (p.Pro400=)
c.2067A>T (p.Pro689=)
c.2013A>T (p.Pro671=)
c.2091A>T (p.Pro697=)
c.2076A>T (p.Pro692=)
c.1704A>T (p.Pro568=)
c.1992A>T (p.Pro664=)
c.1596A>T (p.Pro532=)
c.1308A>T (p.Pro436=)
c.1629A>T (p.Pro543=)
c.1542A>T (p.Pro514=)
c.1311A>T (p.Pro437=)
c.1236A>T (p.Pro412=)
c.1233A>T (p.Pro411=)
c.2079A>T (p.Pro693=)
c.1545A>T (p.Pro515=)
c.1626A>T (p.Pro542=)
c.2064A>T (p.Pro688=)
n.2234A>T
c.1197A>T (p.Pro399=)
n.2106A>T
14g.88610906C>ACA487280450ZC3H14c.2170C>A (p.Arg724=)
c.*1378C>A (n.*1378C>A)
c.1699C>A (p.Arg567=)
c.880C>A (p.Arg294=)
c.1675C>A (p.Arg559=)
c.2095C>A (p.Arg699=)
c.808C>A (p.Arg270=)
n.1013C>A
c.2152C>A (p.Arg718=)
c.415C>A (p.Arg139=)
n.329C>A
c.1276C>A (p.Arg426=)
c.1914C>A
c.1777C>A (p.Arg593=)
n.1455C>A
c.1222C>A (p.Arg408=)
c.2167C>A (p.Arg723=)
c.2155C>A (p.Arg719=)
c.1774C>A (p.Arg592=)
c.1702C>A (p.Arg568=)
c.1201C>A (p.Arg401=)
c.2068C>A (p.Arg690=)
c.2014C>A (p.Arg672=)
c.2092C>A (p.Arg698=)
c.2077C>A (p.Arg693=)
c.1705C>A (p.Arg569=)
c.1993C>A (p.Arg665=)
c.1597C>A (p.Arg533=)
c.1309C>A (p.Arg437=)
c.1630C>A (p.Arg544=)
c.1543C>A (p.Arg515=)
c.1312C>A (p.Arg438=)
c.1237C>A (p.Arg413=)
c.1234C>A (p.Arg412=)
c.2080C>A (p.Arg694=)
c.1546C>A (p.Arg516=)
c.1627C>A (p.Arg543=)
c.2065C>A (p.Arg689=)
n.2235C>A
c.1198C>A (p.Arg400=)
n.2107C>A
14g.88610906C>GCA390566236ZC3H14c.2170C>G (p.Arg724Gly)
c.*1378C>G (n.*1378C>G)
c.1699C>G (p.Arg567Gly)
c.880C>G (p.Arg294Gly)
c.1675C>G (p.Arg559Gly)
c.2095C>G (p.Arg699Gly)
c.808C>G (p.Arg270Gly)
n.1013C>G
c.2152C>G (p.Arg718Gly)
c.415C>G (p.Arg139Gly)
n.329C>G
c.1276C>G (p.Arg426Gly)
c.1914C>G
c.1777C>G (p.Arg593Gly)
n.1455C>G
c.1222C>G (p.Arg408Gly)
c.2167C>G (p.Arg723Gly)
c.2155C>G (p.Arg719Gly)
c.1774C>G (p.Arg592Gly)
c.1702C>G (p.Arg568Gly)
c.1201C>G (p.Arg401Gly)
c.2068C>G (p.Arg690Gly)
c.2014C>G (p.Arg672Gly)
c.2092C>G (p.Arg698Gly)
c.2077C>G (p.Arg693Gly)
c.1705C>G (p.Arg569Gly)
c.1993C>G (p.Arg665Gly)
c.1597C>G (p.Arg533Gly)
c.1309C>G (p.Arg437Gly)
c.1630C>G (p.Arg544Gly)
c.1543C>G (p.Arg515Gly)
c.1312C>G (p.Arg438Gly)
c.1237C>G (p.Arg413Gly)
c.1234C>G (p.Arg412Gly)
c.2080C>G (p.Arg694Gly)
c.1546C>G (p.Arg516Gly)
c.1627C>G (p.Arg543Gly)
c.2065C>G (p.Arg689Gly)
n.2235C>G
c.1198C>G (p.Arg400Gly)
n.2107C>G
14g.88610906C>TCA390566240ZC3H14c.2170C>T (p.Arg724Ter)
c.*1378C>T (n.*1378C>T)
c.1699C>T (p.Arg567Ter)
c.880C>T (p.Arg294Ter)
c.1675C>T (p.Arg559Ter)
c.2095C>T (p.Arg699Ter)
c.808C>T (p.Arg270Ter)
n.1013C>T
c.2152C>T (p.Arg718Ter)
c.415C>T (p.Arg139Ter)
n.329C>T
c.1276C>T (p.Arg426Ter)
c.1914C>T
c.1777C>T (p.Arg593Ter)
n.1455C>T
c.1222C>T (p.Arg408Ter)
c.2167C>T (p.Arg723Ter)
c.2155C>T (p.Arg719Ter)
c.1774C>T (p.Arg592Ter)
c.1702C>T (p.Arg568Ter)
c.1201C>T (p.Arg401Ter)
c.2068C>T (p.Arg690Ter)
c.2014C>T (p.Arg672Ter)
c.2092C>T (p.Arg698Ter)
c.2077C>T (p.Arg693Ter)
c.1705C>T (p.Arg569Ter)
c.1993C>T (p.Arg665Ter)
c.1597C>T (p.Arg533Ter)
c.1309C>T (p.Arg437Ter)
c.1630C>T (p.Arg544Ter)
c.1543C>T (p.Arg515Ter)
c.1312C>T (p.Arg438Ter)
c.1237C>T (p.Arg413Ter)
c.1234C>T (p.Arg412Ter)
c.2080C>T (p.Arg694Ter)
c.1546C>T (p.Arg516Ter)
c.1627C>T (p.Arg543Ter)
c.2065C>T (p.Arg689Ter)
n.2235C>T
c.1198C>T (p.Arg400Ter)
n.2107C>T
 gnomAD v4 COSMIC COSMIC
14g.88610907G>ACA390566249ZC3H14c.2171G>A (p.Arg724Gln)
c.*1379G>A (n.*1379G>A)
c.1700G>A (p.Arg567Gln)
c.881G>A (p.Arg294Gln)
c.1676G>A (p.Arg559Gln)
c.2096G>A (p.Arg699Gln)
c.809G>A (p.Arg270Gln)
n.1014G>A
c.2153G>A (p.Arg718Gln)
c.416G>A (p.Arg139Gln)
n.330G>A
c.1277G>A (p.Arg426Gln)
c.1915G>A
c.1778G>A (p.Arg593Gln)
n.1456G>A
c.1223G>A (p.Arg408Gln)
c.2168G>A (p.Arg723Gln)
c.2156G>A (p.Arg719Gln)
c.1775G>A (p.Arg592Gln)
c.1703G>A (p.Arg568Gln)
c.1202G>A (p.Arg401Gln)
c.2069G>A (p.Arg690Gln)
c.2015G>A (p.Arg672Gln)
c.2093G>A (p.Arg698Gln)
c.2078G>A (p.Arg693Gln)
c.1706G>A (p.Arg569Gln)
c.1994G>A (p.Arg665Gln)
c.1598G>A (p.Arg533Gln)
c.1310G>A (p.Arg437Gln)
c.1631G>A (p.Arg544Gln)
c.1544G>A (p.Arg515Gln)
c.1313G>A (p.Arg438Gln)
c.1238G>A (p.Arg413Gln)
c.1235G>A (p.Arg412Gln)
c.2081G>A (p.Arg694Gln)
c.1547G>A (p.Arg516Gln)
c.1628G>A (p.Arg543Gln)
c.2066G>A (p.Arg689Gln)
n.2236G>A
c.1199G>A (p.Arg400Gln)
n.2108G>A
 ClinVar gnomAD v4 COSMIC COSMIC
14g.88610907G>CCA390566259ZC3H14c.2171G>C (p.Arg724Pro)
c.*1379G>C (n.*1379G>C)
c.1700G>C (p.Arg567Pro)
c.881G>C (p.Arg294Pro)
c.1676G>C (p.Arg559Pro)
c.2096G>C (p.Arg699Pro)
c.809G>C (p.Arg270Pro)
n.1014G>C
c.2153G>C (p.Arg718Pro)
c.416G>C (p.Arg139Pro)
n.330G>C
c.1277G>C (p.Arg426Pro)
c.1915G>C
c.1778G>C (p.Arg593Pro)
n.1456G>C
c.1223G>C (p.Arg408Pro)
c.2168G>C (p.Arg723Pro)
c.2156G>C (p.Arg719Pro)
c.1775G>C (p.Arg592Pro)
c.1703G>C (p.Arg568Pro)
c.1202G>C (p.Arg401Pro)
c.2069G>C (p.Arg690Pro)
c.2015G>C (p.Arg672Pro)
c.2093G>C (p.Arg698Pro)
c.2078G>C (p.Arg693Pro)
c.1706G>C (p.Arg569Pro)
c.1994G>C (p.Arg665Pro)
c.1598G>C (p.Arg533Pro)
c.1310G>C (p.Arg437Pro)
c.1631G>C (p.Arg544Pro)
c.1544G>C (p.Arg515Pro)
c.1313G>C (p.Arg438Pro)
c.1238G>C (p.Arg413Pro)
c.1235G>C (p.Arg412Pro)
c.2081G>C (p.Arg694Pro)
c.1547G>C (p.Arg516Pro)
c.1628G>C (p.Arg543Pro)
c.2066G>C (p.Arg689Pro)
n.2236G>C
c.1199G>C (p.Arg400Pro)
n.2108G>C
14g.88610907G>TCA390566262ZC3H14c.2171G>T (p.Arg724Leu)
c.*1379G>T (n.*1379G>T)
c.1700G>T (p.Arg567Leu)
c.881G>T (p.Arg294Leu)
c.1676G>T (p.Arg559Leu)
c.2096G>T (p.Arg699Leu)
c.809G>T (p.Arg270Leu)
n.1014G>T
c.2153G>T (p.Arg718Leu)
c.416G>T (p.Arg139Leu)
n.330G>T
c.1277G>T (p.Arg426Leu)
c.1915G>T
c.1778G>T (p.Arg593Leu)
n.1456G>T
c.1223G>T (p.Arg408Leu)
c.2168G>T (p.Arg723Leu)
c.2156G>T (p.Arg719Leu)
c.1775G>T (p.Arg592Leu)
c.1703G>T (p.Arg568Leu)
c.1202G>T (p.Arg401Leu)
c.2069G>T (p.Arg690Leu)
c.2015G>T (p.Arg672Leu)
c.2093G>T (p.Arg698Leu)
c.2078G>T (p.Arg693Leu)
c.1706G>T (p.Arg569Leu)
c.1994G>T (p.Arg665Leu)
c.1598G>T (p.Arg533Leu)
c.1310G>T (p.Arg437Leu)
c.1631G>T (p.Arg544Leu)
c.1544G>T (p.Arg515Leu)
c.1313G>T (p.Arg438Leu)
c.1238G>T (p.Arg413Leu)
c.1235G>T (p.Arg412Leu)
c.2081G>T (p.Arg694Leu)
c.1547G>T (p.Arg516Leu)
c.1628G>T (p.Arg543Leu)
c.2066G>T (p.Arg689Leu)
n.2236G>T
c.1199G>T (p.Arg400Leu)
n.2108G>T
14g.88610908A>CCA487280451ZC3H14c.2172A>C (p.Arg724=)
c.*1380A>C (n.*1380A>C)
c.1701A>C (p.Arg567=)
c.882A>C (p.Arg294=)
c.1677A>C (p.Arg559=)
c.2097A>C (p.Arg699=)
c.810A>C (p.Arg270=)
n.1015A>C
c.2154A>C (p.Arg718=)
c.417A>C (p.Arg139=)
n.331A>C
c.1278A>C (p.Arg426=)
c.1916A>C
c.1779A>C (p.Arg593=)
n.1457A>C
c.1224A>C (p.Arg408=)
c.2169A>C (p.Arg723=)
c.2157A>C (p.Arg719=)
c.1776A>C (p.Arg592=)
c.1704A>C (p.Arg568=)
c.1203A>C (p.Arg401=)
c.2070A>C (p.Arg690=)
c.2016A>C (p.Arg672=)
c.2094A>C (p.Arg698=)
c.2079A>C (p.Arg693=)
c.1707A>C (p.Arg569=)
c.1995A>C (p.Arg665=)
c.1599A>C (p.Arg533=)
c.1311A>C (p.Arg437=)
c.1632A>C (p.Arg544=)
c.1545A>C (p.Arg515=)
c.1314A>C (p.Arg438=)
c.1239A>C (p.Arg413=)
c.1236A>C (p.Arg412=)
c.2082A>C (p.Arg694=)
c.1548A>C (p.Arg516=)
c.1629A>C (p.Arg543=)
c.2067A>C (p.Arg689=)
n.2237A>C
c.1200A>C (p.Arg400=)
n.2109A>C
14g.88610908A>GCA487280452ZC3H14c.2172A>G (p.Arg724=)
c.*1380A>G (n.*1380A>G)
c.1701A>G (p.Arg567=)
c.882A>G (p.Arg294=)
c.1677A>G (p.Arg559=)
c.2097A>G (p.Arg699=)
c.810A>G (p.Arg270=)
n.1015A>G
c.2154A>G (p.Arg718=)
c.417A>G (p.Arg139=)
n.331A>G
c.1278A>G (p.Arg426=)
c.1916A>G
c.1779A>G (p.Arg593=)
n.1457A>G
c.1224A>G (p.Arg408=)
c.2169A>G (p.Arg723=)
c.2157A>G (p.Arg719=)
c.1776A>G (p.Arg592=)
c.1704A>G (p.Arg568=)
c.1203A>G (p.Arg401=)
c.2070A>G (p.Arg690=)
c.2016A>G (p.Arg672=)
c.2094A>G (p.Arg698=)
c.2079A>G (p.Arg693=)
c.1707A>G (p.Arg569=)
c.1995A>G (p.Arg665=)
c.1599A>G (p.Arg533=)
c.1311A>G (p.Arg437=)
c.1632A>G (p.Arg544=)
c.1545A>G (p.Arg515=)
c.1314A>G (p.Arg438=)
c.1239A>G (p.Arg413=)
c.1236A>G (p.Arg412=)
c.2082A>G (p.Arg694=)
c.1548A>G (p.Arg516=)
c.1629A>G (p.Arg543=)
c.2067A>G (p.Arg689=)
n.2237A>G
c.1200A>G (p.Arg400=)
n.2109A>G
14g.88610908A>TCA487280453ZC3H14c.2172A>T (p.Arg724=)
c.*1380A>T (n.*1380A>T)
c.1701A>T (p.Arg567=)
c.882A>T (p.Arg294=)
c.1677A>T (p.Arg559=)
c.2097A>T (p.Arg699=)
c.810A>T (p.Arg270=)
n.1015A>T
c.2154A>T (p.Arg718=)
c.417A>T (p.Arg139=)
n.331A>T
c.1278A>T (p.Arg426=)
c.1916A>T
c.1779A>T (p.Arg593=)
n.1457A>T
c.1224A>T (p.Arg408=)
c.2169A>T (p.Arg723=)
c.2157A>T (p.Arg719=)
c.1776A>T (p.Arg592=)
c.1704A>T (p.Arg568=)
c.1203A>T (p.Arg401=)
c.2070A>T (p.Arg690=)
c.2016A>T (p.Arg672=)
c.2094A>T (p.Arg698=)
c.2079A>T (p.Arg693=)
c.1707A>T (p.Arg569=)
c.1995A>T (p.Arg665=)
c.1599A>T (p.Arg533=)
c.1311A>T (p.Arg437=)
c.1632A>T (p.Arg544=)
c.1545A>T (p.Arg515=)
c.1314A>T (p.Arg438=)
c.1239A>T (p.Arg413=)
c.1236A>T (p.Arg412=)
c.2082A>T (p.Arg694=)
c.1548A>T (p.Arg516=)
c.1629A>T (p.Arg543=)
c.2067A>T (p.Arg689=)
n.2237A>T
c.1200A>T (p.Arg400=)
n.2109A>T
14g.88610909C>ACA390566264ZC3H14c.2173C>A (p.His725Asn)
c.*1381C>A (n.*1381C>A)
c.1702C>A (p.His568Asn)
c.883C>A (p.His295Asn)
c.1678C>A (p.His560Asn)
c.2098C>A (p.His700Asn)
c.811C>A (p.His271Asn)
n.1016C>A
c.2155C>A (p.His719Asn)
c.418C>A (p.His140Asn)
n.332C>A
c.1279C>A (p.His427Asn)
c.1917C>A
c.1780C>A (p.His594Asn)
n.1458C>A
c.1225C>A (p.His409Asn)
c.2170C>A (p.His724Asn)
c.2158C>A (p.His720Asn)
c.1777C>A (p.His593Asn)
c.1705C>A (p.His569Asn)
c.1204C>A (p.His402Asn)
c.2071C>A (p.His691Asn)
c.2017C>A (p.His673Asn)
c.2095C>A (p.His699Asn)
c.2080C>A (p.His694Asn)
c.1708C>A (p.His570Asn)
c.1996C>A (p.His666Asn)
c.1600C>A (p.His534Asn)
c.1312C>A (p.His438Asn)
c.1633C>A (p.His545Asn)
c.1546C>A (p.His516Asn)
c.1315C>A (p.His439Asn)
c.1240C>A (p.His414Asn)
c.1237C>A (p.His413Asn)
c.2083C>A (p.His695Asn)
c.1549C>A (p.His517Asn)
c.1630C>A (p.His544Asn)
c.2068C>A (p.His690Asn)
n.2238C>A
c.1201C>A (p.His401Asn)
n.2110C>A
14g.88610909C>GCA390566268ZC3H14c.2173C>G (p.His725Asp)
c.*1381C>G (n.*1381C>G)
c.1702C>G (p.His568Asp)
c.883C>G (p.His295Asp)
c.1678C>G (p.His560Asp)
c.2098C>G (p.His700Asp)
c.811C>G (p.His271Asp)
n.1016C>G
c.2155C>G (p.His719Asp)
c.418C>G (p.His140Asp)
n.332C>G
c.1279C>G (p.His427Asp)
c.1917C>G
c.1780C>G (p.His594Asp)
n.1458C>G
c.1225C>G (p.His409Asp)
c.2170C>G (p.His724Asp)
c.2158C>G (p.His720Asp)
c.1777C>G (p.His593Asp)
c.1705C>G (p.His569Asp)
c.1204C>G (p.His402Asp)
c.2071C>G (p.His691Asp)
c.2017C>G (p.His673Asp)
c.2095C>G (p.His699Asp)
c.2080C>G (p.His694Asp)
c.1708C>G (p.His570Asp)
c.1996C>G (p.His666Asp)
c.1600C>G (p.His534Asp)
c.1312C>G (p.His438Asp)
c.1633C>G (p.His545Asp)
c.1546C>G (p.His516Asp)
c.1315C>G (p.His439Asp)
c.1240C>G (p.His414Asp)
c.1237C>G (p.His413Asp)
c.2083C>G (p.His695Asp)
c.1549C>G (p.His517Asp)
c.1630C>G (p.His544Asp)
c.2068C>G (p.His690Asp)
n.2238C>G
c.1201C>G (p.His401Asp)
n.2110C>G
14g.88610909C>TCA390566273ZC3H14c.2173C>T (p.His725Tyr)
c.*1381C>T (n.*1381C>T)
c.1702C>T (p.His568Tyr)
c.883C>T (p.His295Tyr)
c.1678C>T (p.His560Tyr)
c.2098C>T (p.His700Tyr)
c.811C>T (p.His271Tyr)
n.1016C>T
c.2155C>T (p.His719Tyr)
c.418C>T (p.His140Tyr)
n.332C>T
c.1279C>T (p.His427Tyr)
c.1917C>T
c.1780C>T (p.His594Tyr)
n.1458C>T
c.1225C>T (p.His409Tyr)
c.2170C>T (p.His724Tyr)
c.2158C>T (p.His720Tyr)
c.1777C>T (p.His593Tyr)
c.1705C>T (p.His569Tyr)
c.1204C>T (p.His402Tyr)
c.2071C>T (p.His691Tyr)
c.2017C>T (p.His673Tyr)
c.2095C>T (p.His699Tyr)
c.2080C>T (p.His694Tyr)
c.1708C>T (p.His570Tyr)
c.1996C>T (p.His666Tyr)
c.1600C>T (p.His534Tyr)
c.1312C>T (p.His438Tyr)
c.1633C>T (p.His545Tyr)
c.1546C>T (p.His516Tyr)
c.1315C>T (p.His439Tyr)
c.1240C>T (p.His414Tyr)
c.1237C>T (p.His413Tyr)
c.2083C>T (p.His695Tyr)
c.1549C>T (p.His517Tyr)
c.1630C>T (p.His544Tyr)
c.2068C>T (p.His690Tyr)
n.2238C>T
c.1201C>T (p.His401Tyr)
n.2110C>T
14g.88610910A>CCA390566276ZC3H14c.2174A>C (p.His725Pro)
c.*1382A>C (n.*1382A>C)
c.1703A>C (p.His568Pro)
c.884A>C (p.His295Pro)
c.1679A>C (p.His560Pro)
c.2099A>C (p.His700Pro)
c.812A>C (p.His271Pro)
n.1017A>C
c.2156A>C (p.His719Pro)
c.419A>C (p.His140Pro)
n.333A>C
c.1280A>C (p.His427Pro)
c.1918A>C
c.1781A>C (p.His594Pro)
n.1459A>C
c.1226A>C (p.His409Pro)
c.2171A>C (p.His724Pro)
c.2159A>C (p.His720Pro)
c.1778A>C (p.His593Pro)
c.1706A>C (p.His569Pro)
c.1205A>C (p.His402Pro)
c.2072A>C (p.His691Pro)
c.2018A>C (p.His673Pro)
c.2096A>C (p.His699Pro)
c.2081A>C (p.His694Pro)
c.1709A>C (p.His570Pro)
c.1997A>C (p.His666Pro)
c.1601A>C (p.His534Pro)
c.1313A>C (p.His438Pro)
c.1634A>C (p.His545Pro)
c.1547A>C (p.His516Pro)
c.1316A>C (p.His439Pro)
c.1241A>C (p.His414Pro)
c.1238A>C (p.His413Pro)
c.2084A>C (p.His695Pro)
c.1550A>C (p.His517Pro)
c.1631A>C (p.His544Pro)
c.2069A>C (p.His690Pro)
n.2239A>C
c.1202A>C (p.His401Pro)
n.2111A>C
14g.88610910A>GCA390566279ZC3H14c.2174A>G (p.His725Arg)
c.*1382A>G (n.*1382A>G)
c.1703A>G (p.His568Arg)
c.884A>G (p.His295Arg)
c.1679A>G (p.His560Arg)
c.2099A>G (p.His700Arg)
c.812A>G (p.His271Arg)
n.1017A>G
c.2156A>G (p.His719Arg)
c.419A>G (p.His140Arg)
n.333A>G
c.1280A>G (p.His427Arg)
c.1918A>G
c.1781A>G (p.His594Arg)
n.1459A>G
c.1226A>G (p.His409Arg)
c.2171A>G (p.His724Arg)
c.2159A>G (p.His720Arg)
c.1778A>G (p.His593Arg)
c.1706A>G (p.His569Arg)
c.1205A>G (p.His402Arg)
c.2072A>G (p.His691Arg)
c.2018A>G (p.His673Arg)
c.2096A>G (p.His699Arg)
c.2081A>G (p.His694Arg)
c.1709A>G (p.His570Arg)
c.1997A>G (p.His666Arg)
c.1601A>G (p.His534Arg)
c.1313A>G (p.His438Arg)
c.1634A>G (p.His545Arg)
c.1547A>G (p.His516Arg)
c.1316A>G (p.His439Arg)
c.1241A>G (p.His414Arg)
c.1238A>G (p.His413Arg)
c.2084A>G (p.His695Arg)
c.1550A>G (p.His517Arg)
c.1631A>G (p.His544Arg)
c.2069A>G (p.His690Arg)
n.2239A>G
c.1202A>G (p.His401Arg)
n.2111A>G
14g.88610910A>TCA390566280ZC3H14c.2174A>T (p.His725Leu)
c.*1382A>T (n.*1382A>T)
c.1703A>T (p.His568Leu)
c.884A>T (p.His295Leu)
c.1679A>T (p.His560Leu)
c.2099A>T (p.His700Leu)
c.812A>T (p.His271Leu)
n.1017A>T
c.2156A>T (p.His719Leu)
c.419A>T (p.His140Leu)
n.333A>T
c.1280A>T (p.His427Leu)
c.1918A>T
c.1781A>T (p.His594Leu)
n.1459A>T
c.1226A>T (p.His409Leu)
c.2171A>T (p.His724Leu)
c.2159A>T (p.His720Leu)
c.1778A>T (p.His593Leu)
c.1706A>T (p.His569Leu)
c.1205A>T (p.His402Leu)
c.2072A>T (p.His691Leu)
c.2018A>T (p.His673Leu)
c.2096A>T (p.His699Leu)
c.2081A>T (p.His694Leu)
c.1709A>T (p.His570Leu)
c.1997A>T (p.His666Leu)
c.1601A>T (p.His534Leu)
c.1313A>T (p.His438Leu)
c.1634A>T (p.His545Leu)
c.1547A>T (p.His516Leu)
c.1316A>T (p.His439Leu)
c.1241A>T (p.His414Leu)
c.1238A>T (p.His413Leu)
c.2084A>T (p.His695Leu)
c.1550A>T (p.His517Leu)
c.1631A>T (p.His544Leu)
c.2069A>T (p.His690Leu)
n.2239A>T
c.1202A>T (p.His401Leu)
n.2111A>T
14g.88610911T>ACA390566303ZC3H14c.2175T>A (p.His725Gln)
c.*1383T>A (n.*1383T>A)
c.1704T>A (p.His568Gln)
c.885T>A (p.His295Gln)
c.1680T>A (p.His560Gln)
c.2100T>A (p.His700Gln)
c.813T>A (p.His271Gln)
n.1018T>A
c.2157T>A (p.His719Gln)
c.420T>A (p.His140Gln)
n.334T>A
c.1281T>A (p.His427Gln)
c.1919T>A
c.1782T>A (p.His594Gln)
n.1460T>A
c.1227T>A (p.His409Gln)
c.2172T>A (p.His724Gln)
c.2160T>A (p.His720Gln)
c.1779T>A (p.His593Gln)
c.1707T>A (p.His569Gln)
c.1206T>A (p.His402Gln)
c.2073T>A (p.His691Gln)
c.2019T>A (p.His673Gln)
c.2097T>A (p.His699Gln)
c.2082T>A (p.His694Gln)
c.1710T>A (p.His570Gln)
c.1998T>A (p.His666Gln)
c.1602T>A (p.His534Gln)
c.1314T>A (p.His438Gln)
c.1635T>A (p.His545Gln)
c.1548T>A (p.His516Gln)
c.1317T>A (p.His439Gln)
c.1242T>A (p.His414Gln)
c.1239T>A (p.His413Gln)
c.2085T>A (p.His695Gln)
c.1551T>A (p.His517Gln)
c.1632T>A (p.His544Gln)
c.2070T>A (p.His690Gln)
n.2240T>A
c.1203T>A (p.His401Gln)
n.2112T>A
14g.88610911T>CCA7300784ZC3H14c.2175T>C (p.His725=)
c.*1383T>C (n.*1383T>C)
c.1704T>C (p.His568=)
c.885T>C (p.His295=)
c.1680T>C (p.His560=)
c.2100T>C (p.His700=)
c.813T>C (p.His271=)
n.1018T>C
c.2157T>C (p.His719=)
c.420T>C (p.His140=)
n.334T>C
c.1281T>C (p.His427=)
c.1919T>C
c.1782T>C (p.His594=)
n.1460T>C
c.1227T>C (p.His409=)
c.2172T>C (p.His724=)
c.2160T>C (p.His720=)
c.1779T>C (p.His593=)
c.1707T>C (p.His569=)
c.1206T>C (p.His402=)
c.2073T>C (p.His691=)
c.2019T>C (p.His673=)
c.2097T>C (p.His699=)
c.2082T>C (p.His694=)
c.1710T>C (p.His570=)
c.1998T>C (p.His666=)
c.1602T>C (p.His534=)
c.1314T>C (p.His438=)
c.1635T>C (p.His545=)
c.1548T>C (p.His516=)
c.1317T>C (p.His439=)
c.1242T>C (p.His414=)
c.1239T>C (p.His413=)
c.2085T>C (p.His695=)
c.1551T>C (p.His517=)
c.1632T>C (p.His544=)
c.2070T>C (p.His690=)
n.2240T>C
c.1203T>C (p.His401=)
n.2112T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.88610911T>GCA390566290ZC3H14c.2175T>G (p.His725Gln)
c.*1383T>G (n.*1383T>G)
c.1704T>G (p.His568Gln)
c.885T>G (p.His295Gln)
c.1680T>G (p.His560Gln)
c.2100T>G (p.His700Gln)
c.813T>G (p.His271Gln)
n.1018T>G
c.2157T>G (p.His719Gln)
c.420T>G (p.His140Gln)
n.334T>G
c.1281T>G (p.His427Gln)
c.1919T>G
c.1782T>G (p.His594Gln)
n.1460T>G
c.1227T>G (p.His409Gln)
c.2172T>G (p.His724Gln)
c.2160T>G (p.His720Gln)
c.1779T>G (p.His593Gln)
c.1707T>G (p.His569Gln)
c.1206T>G (p.His402Gln)
c.2073T>G (p.His691Gln)
c.2019T>G (p.His673Gln)
c.2097T>G (p.His699Gln)
c.2082T>G (p.His694Gln)
c.1710T>G (p.His570Gln)
c.1998T>G (p.His666Gln)
c.1602T>G (p.His534Gln)
c.1314T>G (p.His438Gln)
c.1635T>G (p.His545Gln)
c.1548T>G (p.His516Gln)
c.1317T>G (p.His439Gln)
c.1242T>G (p.His414Gln)
c.1239T>G (p.His413Gln)
c.2085T>G (p.His695Gln)
c.1551T>G (p.His517Gln)
c.1632T>G (p.His544Gln)
c.2070T>G (p.His690Gln)
n.2240T>G
c.1203T>G (p.His401Gln)
n.2112T>G
14g.88610911T=CA2153694411ZC3H14c.2175T= (p.His725=)
c.*1383T= (n.*1383T=)
c.1704T= (p.His568=)
c.885T= (p.His295=)
c.1680T= (p.His560=)
c.2100T= (p.His700=)
c.813T= (p.His271=)
n.1018T=
c.2157T= (p.His719=)
c.420T= (p.His140=)
n.334T=
c.1281T= (p.His427=)
c.1919T=
c.1782T= (p.His594=)
n.1460T=
c.1227T= (p.His409=)
c.2172T= (p.His724=)
c.2160T= (p.His720=)
c.1779T= (p.His593=)
c.1707T= (p.His569=)
c.1206T= (p.His402=)
c.2073T= (p.His691=)
c.2019T= (p.His673=)
c.2097T= (p.His699=)
c.2082T= (p.His694=)
c.1710T= (p.His570=)
c.1998T= (p.His666=)
c.1602T= (p.His534=)
c.1314T= (p.His438=)
c.1635T= (p.His545=)
c.1548T= (p.His516=)
c.1317T= (p.His439=)
c.1242T= (p.His414=)
c.1239T= (p.His413=)
c.2085T= (p.His695=)
c.1551T= (p.His517=)
c.1632T= (p.His544=)
c.2070T= (p.His690=)
n.2240T=
c.1203T= (p.His401=)
n.2112T=
14g.88610912G>ACA390566306ZC3H14c.2176G>A (p.Ala726Thr)
c.*1384G>A (n.*1384G>A)
c.1705G>A (p.Ala569Thr)
c.886G>A (p.Ala296Thr)
c.1681G>A (p.Ala561Thr)
c.2101G>A (p.Ala701Thr)
c.814G>A (p.Ala272Thr)
n.1019G>A
c.2158G>A (p.Ala720Thr)
c.421G>A (p.Ala141Thr)
n.335G>A
c.1282G>A (p.Ala428Thr)
c.1920G>A
c.1783G>A (p.Ala595Thr)
n.1461G>A
c.1228G>A (p.Ala410Thr)
c.2173G>A (p.Ala725Thr)
c.2161G>A (p.Ala721Thr)
c.1780G>A (p.Ala594Thr)
c.1708G>A (p.Ala570Thr)
c.1207G>A (p.Ala403Thr)
c.2074G>A (p.Ala692Thr)
c.2020G>A (p.Ala674Thr)
c.2098G>A (p.Ala700Thr)
c.2083G>A (p.Ala695Thr)
c.1711G>A (p.Ala571Thr)
c.1999G>A (p.Ala667Thr)
c.1603G>A (p.Ala535Thr)
c.1315G>A (p.Ala439Thr)
c.1636G>A (p.Ala546Thr)
c.1549G>A (p.Ala517Thr)
c.1318G>A (p.Ala440Thr)
c.1243G>A (p.Ala415Thr)
c.1240G>A (p.Ala414Thr)
c.2086G>A (p.Ala696Thr)
c.1552G>A (p.Ala518Thr)
c.1633G>A (p.Ala545Thr)
c.2071G>A (p.Ala691Thr)
n.2241G>A
c.1204G>A (p.Ala402Thr)
n.2113G>A
 ClinVar gnomAD v4
14g.88610912G>CCA390566307ZC3H14c.2176G>C (p.Ala726Pro)
c.*1384G>C (n.*1384G>C)
c.1705G>C (p.Ala569Pro)
c.886G>C (p.Ala296Pro)
c.1681G>C (p.Ala561Pro)
c.2101G>C (p.Ala701Pro)
c.814G>C (p.Ala272Pro)
n.1019G>C
c.2158G>C (p.Ala720Pro)
c.421G>C (p.Ala141Pro)
n.335G>C
c.1282G>C (p.Ala428Pro)
c.1920G>C
c.1783G>C (p.Ala595Pro)
n.1461G>C
c.1228G>C (p.Ala410Pro)
c.2173G>C (p.Ala725Pro)
c.2161G>C (p.Ala721Pro)
c.1780G>C (p.Ala594Pro)
c.1708G>C (p.Ala570Pro)
c.1207G>C (p.Ala403Pro)
c.2074G>C (p.Ala692Pro)
c.2020G>C (p.Ala674Pro)
c.2098G>C (p.Ala700Pro)
c.2083G>C (p.Ala695Pro)
c.1711G>C (p.Ala571Pro)
c.1999G>C (p.Ala667Pro)
c.1603G>C (p.Ala535Pro)
c.1315G>C (p.Ala439Pro)
c.1636G>C (p.Ala546Pro)
c.1549G>C (p.Ala517Pro)
c.1318G>C (p.Ala440Pro)
c.1243G>C (p.Ala415Pro)
c.1240G>C (p.Ala414Pro)
c.2086G>C (p.Ala696Pro)
c.1552G>C (p.Ala518Pro)
c.1633G>C (p.Ala545Pro)
c.2071G>C (p.Ala691Pro)
n.2241G>C
c.1204G>C (p.Ala402Pro)
n.2113G>C
14g.88610912G>TCA390566308ZC3H14c.2176G>T (p.Ala726Ser)
c.*1384G>T (n.*1384G>T)
c.1705G>T (p.Ala569Ser)
c.886G>T (p.Ala296Ser)
c.1681G>T (p.Ala561Ser)
c.2101G>T (p.Ala701Ser)
c.814G>T (p.Ala272Ser)
n.1019G>T
c.2158G>T (p.Ala720Ser)
c.421G>T (p.Ala141Ser)
n.335G>T
c.1282G>T (p.Ala428Ser)
c.1920G>T
c.1783G>T (p.Ala595Ser)
n.1461G>T
c.1228G>T (p.Ala410Ser)
c.2173G>T (p.Ala725Ser)
c.2161G>T (p.Ala721Ser)
c.1780G>T (p.Ala594Ser)
c.1708G>T (p.Ala570Ser)
c.1207G>T (p.Ala403Ser)
c.2074G>T (p.Ala692Ser)
c.2020G>T (p.Ala674Ser)
c.2098G>T (p.Ala700Ser)
c.2083G>T (p.Ala695Ser)
c.1711G>T (p.Ala571Ser)
c.1999G>T (p.Ala667Ser)
c.1603G>T (p.Ala535Ser)
c.1315G>T (p.Ala439Ser)
c.1636G>T (p.Ala546Ser)
c.1549G>T (p.Ala517Ser)
c.1318G>T (p.Ala440Ser)
c.1243G>T (p.Ala415Ser)
c.1240G>T (p.Ala414Ser)
c.2086G>T (p.Ala696Ser)
c.1552G>T (p.Ala518Ser)
c.1633G>T (p.Ala545Ser)
c.2071G>T (p.Ala691Ser)
n.2241G>T
c.1204G>T (p.Ala402Ser)
n.2113G>T
14g.88610913C>ACA390566310ZC3H14c.2177C>A (p.Ala726Asp)
c.*1385C>A (n.*1385C>A)
c.1706C>A (p.Ala569Asp)
c.887C>A (p.Ala296Asp)
c.1682C>A (p.Ala561Asp)
c.2102C>A (p.Ala701Asp)
c.815C>A (p.Ala272Asp)
n.1020C>A
c.2159C>A (p.Ala720Asp)
c.422C>A (p.Ala141Asp)
n.336C>A
c.1283C>A (p.Ala428Asp)
c.1921C>A
c.1784C>A (p.Ala595Asp)
n.1462C>A
c.1229C>A (p.Ala410Asp)
c.2174C>A (p.Ala725Asp)
c.2162C>A (p.Ala721Asp)
c.1781C>A (p.Ala594Asp)
c.1709C>A (p.Ala570Asp)
c.1208C>A (p.Ala403Asp)
c.2075C>A (p.Ala692Asp)
c.2021C>A (p.Ala674Asp)
c.2099C>A (p.Ala700Asp)
c.2084C>A (p.Ala695Asp)
c.1712C>A (p.Ala571Asp)
c.2000C>A (p.Ala667Asp)
c.1604C>A (p.Ala535Asp)
c.1316C>A (p.Ala439Asp)
c.1637C>A (p.Ala546Asp)
c.1550C>A (p.Ala517Asp)
c.1319C>A (p.Ala440Asp)
c.1244C>A (p.Ala415Asp)
c.1241C>A (p.Ala414Asp)
c.2087C>A (p.Ala696Asp)
c.1553C>A (p.Ala518Asp)
c.1634C>A (p.Ala545Asp)
c.2072C>A (p.Ala691Asp)
n.2242C>A
c.1205C>A (p.Ala402Asp)
n.2114C>A
14g.88610913C>GCA390566313ZC3H14c.2177C>G (p.Ala726Gly)
c.*1385C>G (n.*1385C>G)
c.1706C>G (p.Ala569Gly)
c.887C>G (p.Ala296Gly)
c.1682C>G (p.Ala561Gly)
c.2102C>G (p.Ala701Gly)
c.815C>G (p.Ala272Gly)
n.1020C>G
c.2159C>G (p.Ala720Gly)
c.422C>G (p.Ala141Gly)
n.336C>G
c.1283C>G (p.Ala428Gly)
c.1921C>G
c.1784C>G (p.Ala595Gly)
n.1462C>G
c.1229C>G (p.Ala410Gly)
c.2174C>G (p.Ala725Gly)
c.2162C>G (p.Ala721Gly)
c.1781C>G (p.Ala594Gly)
c.1709C>G (p.Ala570Gly)
c.1208C>G (p.Ala403Gly)
c.2075C>G (p.Ala692Gly)
c.2021C>G (p.Ala674Gly)
c.2099C>G (p.Ala700Gly)
c.2084C>G (p.Ala695Gly)
c.1712C>G (p.Ala571Gly)
c.2000C>G (p.Ala667Gly)
c.1604C>G (p.Ala535Gly)
c.1316C>G (p.Ala439Gly)
c.1637C>G (p.Ala546Gly)
c.1550C>G (p.Ala517Gly)
c.1319C>G (p.Ala440Gly)
c.1244C>G (p.Ala415Gly)
c.1241C>G (p.Ala414Gly)
c.2087C>G (p.Ala696Gly)
c.1553C>G (p.Ala518Gly)
c.1634C>G (p.Ala545Gly)
c.2072C>G (p.Ala691Gly)
n.2242C>G
c.1205C>G (p.Ala402Gly)
n.2114C>G
14g.88610913C>TCA390566315ZC3H14c.2177C>T (p.Ala726Val)
c.*1385C>T (n.*1385C>T)
c.1706C>T (p.Ala569Val)
c.887C>T (p.Ala296Val)
c.1682C>T (p.Ala561Val)
c.2102C>T (p.Ala701Val)
c.815C>T (p.Ala272Val)
n.1020C>T
c.2159C>T (p.Ala720Val)
c.422C>T (p.Ala141Val)
n.336C>T
c.1283C>T (p.Ala428Val)
c.1921C>T
c.1784C>T (p.Ala595Val)
n.1462C>T
c.1229C>T (p.Ala410Val)
c.2174C>T (p.Ala725Val)
c.2162C>T (p.Ala721Val)
c.1781C>T (p.Ala594Val)
c.1709C>T (p.Ala570Val)
c.1208C>T (p.Ala403Val)
c.2075C>T (p.Ala692Val)
c.2021C>T (p.Ala674Val)
c.2099C>T (p.Ala700Val)
c.2084C>T (p.Ala695Val)
c.1712C>T (p.Ala571Val)
c.2000C>T (p.Ala667Val)
c.1604C>T (p.Ala535Val)
c.1316C>T (p.Ala439Val)
c.1637C>T (p.Ala546Val)
c.1550C>T (p.Ala517Val)
c.1319C>T (p.Ala440Val)
c.1244C>T (p.Ala415Val)
c.1241C>T (p.Ala414Val)
c.2087C>T (p.Ala696Val)
c.1553C>T (p.Ala518Val)
c.1634C>T (p.Ala545Val)
c.2072C>T (p.Ala691Val)
n.2242C>T
c.1205C>T (p.Ala402Val)
n.2114C>T
14g.88610914C>ACA487280454ZC3H14c.2178C>A (p.Ala726=)
c.*1386C>A (n.*1386C>A)
c.1707C>A (p.Ala569=)
c.888C>A (p.Ala296=)
c.1683C>A (p.Ala561=)
c.2103C>A (p.Ala701=)
c.816C>A (p.Ala272=)
n.1021C>A
c.2160C>A (p.Ala720=)
c.423C>A (p.Ala141=)
n.337C>A
c.1284C>A (p.Ala428=)
c.1922C>A
c.1785C>A (p.Ala595=)
n.1463C>A
c.1230C>A (p.Ala410=)
c.2175C>A (p.Ala725=)
c.2163C>A (p.Ala721=)
c.1782C>A (p.Ala594=)
c.1710C>A (p.Ala570=)
c.1209C>A (p.Ala403=)
c.2076C>A (p.Ala692=)
c.2022C>A (p.Ala674=)
c.2100C>A (p.Ala700=)
c.2085C>A (p.Ala695=)
c.1713C>A (p.Ala571=)
c.2001C>A (p.Ala667=)
c.1605C>A (p.Ala535=)
c.1317C>A (p.Ala439=)
c.1638C>A (p.Ala546=)
c.1551C>A (p.Ala517=)
c.1320C>A (p.Ala440=)
c.1245C>A (p.Ala415=)
c.1242C>A (p.Ala414=)
c.2088C>A (p.Ala696=)
c.1554C>A (p.Ala518=)
c.1635C>A (p.Ala545=)
c.2073C>A (p.Ala691=)
n.2243C>A
c.1206C>A (p.Ala402=)
n.2115C>A
14g.88610914C>GCA487280455ZC3H14c.2178C>G (p.Ala726=)
c.*1386C>G (n.*1386C>G)
c.1707C>G (p.Ala569=)
c.888C>G (p.Ala296=)
c.1683C>G (p.Ala561=)
c.2103C>G (p.Ala701=)
c.816C>G (p.Ala272=)
n.1021C>G
c.2160C>G (p.Ala720=)
c.423C>G (p.Ala141=)
n.337C>G
c.1284C>G (p.Ala428=)
c.1922C>G
c.1785C>G (p.Ala595=)
n.1463C>G
c.1230C>G (p.Ala410=)
c.2175C>G (p.Ala725=)
c.2163C>G (p.Ala721=)
c.1782C>G (p.Ala594=)
c.1710C>G (p.Ala570=)
c.1209C>G (p.Ala403=)
c.2076C>G (p.Ala692=)
c.2022C>G (p.Ala674=)
c.2100C>G (p.Ala700=)
c.2085C>G (p.Ala695=)
c.1713C>G (p.Ala571=)
c.2001C>G (p.Ala667=)
c.1605C>G (p.Ala535=)
c.1317C>G (p.Ala439=)
c.1638C>G (p.Ala546=)
c.1551C>G (p.Ala517=)
c.1320C>G (p.Ala440=)
c.1245C>G (p.Ala415=)
c.1242C>G (p.Ala414=)
c.2088C>G (p.Ala696=)
c.1554C>G (p.Ala518=)
c.1635C>G (p.Ala545=)
c.2073C>G (p.Ala691=)
n.2243C>G
c.1206C>G (p.Ala402=)
n.2115C>G
14g.88610914C>TCA487280456ZC3H14c.2178C>T (p.Ala726=)
c.*1386C>T (n.*1386C>T)
c.1707C>T (p.Ala569=)
c.888C>T (p.Ala296=)
c.1683C>T (p.Ala561=)
c.2103C>T (p.Ala701=)
c.816C>T (p.Ala272=)
n.1021C>T
c.2160C>T (p.Ala720=)
c.423C>T (p.Ala141=)
n.337C>T
c.1284C>T (p.Ala428=)
c.1922C>T
c.1785C>T (p.Ala595=)
n.1463C>T
c.1230C>T (p.Ala410=)
c.2175C>T (p.Ala725=)
c.2163C>T (p.Ala721=)
c.1782C>T (p.Ala594=)
c.1710C>T (p.Ala570=)
c.1209C>T (p.Ala403=)
c.2076C>T (p.Ala692=)
c.2022C>T (p.Ala674=)
c.2100C>T (p.Ala700=)
c.2085C>T (p.Ala695=)
c.1713C>T (p.Ala571=)
c.2001C>T (p.Ala667=)
c.1605C>T (p.Ala535=)
c.1317C>T (p.Ala439=)
c.1638C>T (p.Ala546=)
c.1551C>T (p.Ala517=)
c.1320C>T (p.Ala440=)
c.1245C>T (p.Ala415=)
c.1242C>T (p.Ala414=)
c.2088C>T (p.Ala696=)
c.1554C>T (p.Ala518=)
c.1635C>T (p.Ala545=)
c.2073C>T (p.Ala691=)
n.2243C>T
c.1206C>T (p.Ala402=)
n.2115C>T
14g.88610915T>ACA390566316ZC3H14c.2179T>A (p.Leu727Met)
c.*1387T>A (n.*1387T>A)
c.1708T>A (p.Leu570Met)
c.889T>A (p.Leu297Met)
c.1684T>A (p.Leu562Met)
c.2104T>A (p.Leu702Met)
c.817T>A (p.Leu273Met)
n.1022T>A
c.2161T>A (p.Leu721Met)
c.424T>A (p.Leu142Met)
n.338T>A
c.1285T>A (p.Leu429Met)
c.1923T>A
c.1786T>A (p.Leu596Met)
n.1464T>A
c.1231T>A (p.Leu411Met)
c.2176T>A (p.Leu726Met)
c.2164T>A (p.Leu722Met)
c.1783T>A (p.Leu595Met)
c.1711T>A (p.Leu571Met)
c.1210T>A (p.Leu404Met)
c.2077T>A (p.Leu693Met)
c.2023T>A (p.Leu675Met)
c.2101T>A (p.Leu701Met)
c.2086T>A (p.Leu696Met)
c.1714T>A (p.Leu572Met)
c.2002T>A (p.Leu668Met)
c.1606T>A (p.Leu536Met)
c.1318T>A (p.Leu440Met)
c.1639T>A (p.Leu547Met)
c.1552T>A (p.Leu518Met)
c.1321T>A (p.Leu441Met)
c.1246T>A (p.Leu416Met)
c.1243T>A (p.Leu415Met)
c.2089T>A (p.Leu697Met)
c.1555T>A (p.Leu519Met)
c.1636T>A (p.Leu546Met)
c.2074T>A (p.Leu692Met)
n.2244T>A
c.1207T>A (p.Leu403Met)
n.2116T>A
14g.88610915T>CCA487280457ZC3H14c.2179T>C (p.Leu727=)
c.*1387T>C (n.*1387T>C)
c.1708T>C (p.Leu570=)
c.889T>C (p.Leu297=)
c.1684T>C (p.Leu562=)
c.2104T>C (p.Leu702=)
c.817T>C (p.Leu273=)
n.1022T>C
c.2161T>C (p.Leu721=)
c.424T>C (p.Leu142=)
n.338T>C
c.1285T>C (p.Leu429=)
c.1923T>C
c.1786T>C (p.Leu596=)
n.1464T>C
c.1231T>C (p.Leu411=)
c.2176T>C (p.Leu726=)
c.2164T>C (p.Leu722=)
c.1783T>C (p.Leu595=)
c.1711T>C (p.Leu571=)
c.1210T>C (p.Leu404=)
c.2077T>C (p.Leu693=)
c.2023T>C (p.Leu675=)
c.2101T>C (p.Leu701=)
c.2086T>C (p.Leu696=)
c.1714T>C (p.Leu572=)
c.2002T>C (p.Leu668=)
c.1606T>C (p.Leu536=)
c.1318T>C (p.Leu440=)
c.1639T>C (p.Leu547=)
c.1552T>C (p.Leu518=)
c.1321T>C (p.Leu441=)
c.1246T>C (p.Leu416=)
c.1243T>C (p.Leu415=)
c.2089T>C (p.Leu697=)
c.1555T>C (p.Leu519=)
c.1636T>C (p.Leu546=)
c.2074T>C (p.Leu692=)
n.2244T>C
c.1207T>C (p.Leu403=)
n.2116T>C
14g.88610915T>GCA390566321ZC3H14c.2179T>G (p.Leu727Val)
c.*1387T>G (n.*1387T>G)
c.1708T>G (p.Leu570Val)
c.889T>G (p.Leu297Val)
c.1684T>G (p.Leu562Val)
c.2104T>G (p.Leu702Val)
c.817T>G (p.Leu273Val)
n.1022T>G
c.2161T>G (p.Leu721Val)
c.424T>G (p.Leu142Val)
n.338T>G
c.1285T>G (p.Leu429Val)
c.1923T>G
c.1786T>G (p.Leu596Val)
n.1464T>G
c.1231T>G (p.Leu411Val)
c.2176T>G (p.Leu726Val)
c.2164T>G (p.Leu722Val)
c.1783T>G (p.Leu595Val)
c.1711T>G (p.Leu571Val)
c.1210T>G (p.Leu404Val)
c.2077T>G (p.Leu693Val)
c.2023T>G (p.Leu675Val)
c.2101T>G (p.Leu701Val)
c.2086T>G (p.Leu696Val)
c.1714T>G (p.Leu572Val)
c.2002T>G (p.Leu668Val)
c.1606T>G (p.Leu536Val)
c.1318T>G (p.Leu440Val)
c.1639T>G (p.Leu547Val)
c.1552T>G (p.Leu518Val)
c.1321T>G (p.Leu441Val)
c.1246T>G (p.Leu416Val)
c.1243T>G (p.Leu415Val)
c.2089T>G (p.Leu697Val)
c.1555T>G (p.Leu519Val)
c.1636T>G (p.Leu546Val)
c.2074T>G (p.Leu692Val)
n.2244T>G
c.1207T>G (p.Leu403Val)
n.2116T>G
14g.88610916T>ACA390566324ZC3H14c.2180T>A (p.Leu727Ter)
c.*1388T>A (n.*1388T>A)
c.1709T>A (p.Leu570Ter)
c.890T>A (p.Leu297Ter)
c.1685T>A (p.Leu562Ter)
c.2105T>A (p.Leu702Ter)
c.818T>A (p.Leu273Ter)
n.1023T>A
c.2162T>A (p.Leu721Ter)
c.425T>A (p.Leu142Ter)
n.339T>A
c.1286T>A (p.Leu429Ter)
c.1924T>A
c.1787T>A (p.Leu596Ter)
n.1465T>A
c.1232T>A (p.Leu411Ter)
c.2177T>A (p.Leu726Ter)
c.2165T>A (p.Leu722Ter)
c.1784T>A (p.Leu595Ter)
c.1712T>A (p.Leu571Ter)
c.1211T>A (p.Leu404Ter)
c.2078T>A (p.Leu693Ter)
c.2024T>A (p.Leu675Ter)
c.2102T>A (p.Leu701Ter)
c.2087T>A (p.Leu696Ter)
c.1715T>A (p.Leu572Ter)
c.2003T>A (p.Leu668Ter)
c.1607T>A (p.Leu536Ter)
c.1319T>A (p.Leu440Ter)
c.1640T>A (p.Leu547Ter)
c.1553T>A (p.Leu518Ter)
c.1322T>A (p.Leu441Ter)
c.1247T>A (p.Leu416Ter)
c.1244T>A (p.Leu415Ter)
c.2090T>A (p.Leu697Ter)
c.1556T>A (p.Leu519Ter)
c.1637T>A (p.Leu546Ter)
c.2075T>A (p.Leu692Ter)
n.2245T>A
c.1208T>A (p.Leu403Ter)
n.2117T>A
14g.88610916T>CCA390566330ZC3H14c.2180T>C (p.Leu727Ser)
c.*1388T>C (n.*1388T>C)
c.1709T>C (p.Leu570Ser)
c.890T>C (p.Leu297Ser)
c.1685T>C (p.Leu562Ser)
c.2105T>C (p.Leu702Ser)
c.818T>C (p.Leu273Ser)
n.1023T>C
c.2162T>C (p.Leu721Ser)
c.425T>C (p.Leu142Ser)
n.339T>C
c.1286T>C (p.Leu429Ser)
c.1924T>C
c.1787T>C (p.Leu596Ser)
n.1465T>C
c.1232T>C (p.Leu411Ser)
c.2177T>C (p.Leu726Ser)
c.2165T>C (p.Leu722Ser)
c.1784T>C (p.Leu595Ser)
c.1712T>C (p.Leu571Ser)
c.1211T>C (p.Leu404Ser)
c.2078T>C (p.Leu693Ser)
c.2024T>C (p.Leu675Ser)
c.2102T>C (p.Leu701Ser)
c.2087T>C (p.Leu696Ser)
c.1715T>C (p.Leu572Ser)
c.2003T>C (p.Leu668Ser)
c.1607T>C (p.Leu536Ser)
c.1319T>C (p.Leu440Ser)
c.1640T>C (p.Leu547Ser)
c.1553T>C (p.Leu518Ser)
c.1322T>C (p.Leu441Ser)
c.1247T>C (p.Leu416Ser)
c.1244T>C (p.Leu415Ser)
c.2090T>C (p.Leu697Ser)
c.1556T>C (p.Leu519Ser)
c.1637T>C (p.Leu546Ser)
c.2075T>C (p.Leu692Ser)
n.2245T>C
c.1208T>C (p.Leu403Ser)
n.2117T>C
14g.88610916T>GCA390566331ZC3H14c.2180T>G (p.Leu727Trp)
c.*1388T>G (n.*1388T>G)
c.1709T>G (p.Leu570Trp)
c.890T>G (p.Leu297Trp)
c.1685T>G (p.Leu562Trp)
c.2105T>G (p.Leu702Trp)
c.818T>G (p.Leu273Trp)
n.1023T>G
c.2162T>G (p.Leu721Trp)
c.425T>G (p.Leu142Trp)
n.339T>G
c.1286T>G (p.Leu429Trp)
c.1924T>G
c.1787T>G (p.Leu596Trp)
n.1465T>G
c.1232T>G (p.Leu411Trp)
c.2177T>G (p.Leu726Trp)
c.2165T>G (p.Leu722Trp)
c.1784T>G (p.Leu595Trp)
c.1712T>G (p.Leu571Trp)
c.1211T>G (p.Leu404Trp)
c.2078T>G (p.Leu693Trp)
c.2024T>G (p.Leu675Trp)
c.2102T>G (p.Leu701Trp)
c.2087T>G (p.Leu696Trp)
c.1715T>G (p.Leu572Trp)
c.2003T>G (p.Leu668Trp)
c.1607T>G (p.Leu536Trp)
c.1319T>G (p.Leu440Trp)
c.1640T>G (p.Leu547Trp)
c.1553T>G (p.Leu518Trp)
c.1322T>G (p.Leu441Trp)
c.1247T>G (p.Leu416Trp)
c.1244T>G (p.Leu415Trp)
c.2090T>G (p.Leu697Trp)
c.1556T>G (p.Leu519Trp)
c.1637T>G (p.Leu546Trp)
c.2075T>G (p.Leu692Trp)
n.2245T>G
c.1208T>G (p.Leu403Trp)
n.2117T>G
 dbSNP
14g.88610916T=CA2153694412ZC3H14c.2180T= (p.Leu727=)
c.*1388T= (n.*1388T=)
c.1709T= (p.Leu570=)
c.890T= (p.Leu297=)
c.1685T= (p.Leu562=)
c.2105T= (p.Leu702=)
c.818T= (p.Leu273=)
n.1023T=
c.2162T= (p.Leu721=)
c.425T= (p.Leu142=)
n.339T=
c.1286T= (p.Leu429=)
c.1924T=
c.1787T= (p.Leu596=)
n.1465T=
c.1232T= (p.Leu411=)
c.2177T= (p.Leu726=)
c.2165T= (p.Leu722=)
c.1784T= (p.Leu595=)
c.1712T= (p.Leu571=)
c.1211T= (p.Leu404=)
c.2078T= (p.Leu693=)
c.2024T= (p.Leu675=)
c.2102T= (p.Leu701=)
c.2087T= (p.Leu696=)
c.1715T= (p.Leu572=)
c.2003T= (p.Leu668=)
c.1607T= (p.Leu536=)
c.1319T= (p.Leu440=)
c.1640T= (p.Leu547=)
c.1553T= (p.Leu518=)
c.1322T= (p.Leu441=)
c.1247T= (p.Leu416=)
c.1244T= (p.Leu415=)
c.2090T= (p.Leu697=)
c.1556T= (p.Leu519=)
c.1637T= (p.Leu546=)
c.2075T= (p.Leu692=)
n.2245T=
c.1208T= (p.Leu403=)
n.2117T=
14g.88610917G>ACA487280458ZC3H14c.2181G>A (p.Leu727=)
c.*1389G>A (n.*1389G>A)
c.1710G>A (p.Leu570=)
c.891G>A (p.Leu297=)
c.1686G>A (p.Leu562=)
c.2106G>A (p.Leu702=)
c.819G>A (p.Leu273=)
n.1024G>A
c.2163G>A (p.Leu721=)
c.426G>A (p.Leu142=)
n.340G>A
c.1287G>A (p.Leu429=)
c.1925G>A
c.1788G>A (p.Leu596=)
n.1466G>A
c.1233G>A (p.Leu411=)
c.2178G>A (p.Leu726=)
c.2166G>A (p.Leu722=)
c.1785G>A (p.Leu595=)
c.1713G>A (p.Leu571=)
c.1212G>A (p.Leu404=)
c.2079G>A (p.Leu693=)
c.2025G>A (p.Leu675=)
c.2103G>A (p.Leu701=)
c.2088G>A (p.Leu696=)
c.1716G>A (p.Leu572=)
c.2004G>A (p.Leu668=)
c.1608G>A (p.Leu536=)
c.1320G>A (p.Leu440=)
c.1641G>A (p.Leu547=)
c.1554G>A (p.Leu518=)
c.1323G>A (p.Leu441=)
c.1248G>A (p.Leu416=)
c.1245G>A (p.Leu415=)
c.2091G>A (p.Leu697=)
c.1557G>A (p.Leu519=)
c.1638G>A (p.Leu546=)
c.2076G>A (p.Leu692=)
n.2246G>A
c.1209G>A (p.Leu403=)
n.2118G>A
14g.88610917G>CCA390566334ZC3H14c.2181G>C (p.Leu727Phe)
c.*1389G>C (n.*1389G>C)
c.1710G>C (p.Leu570Phe)
c.891G>C (p.Leu297Phe)
c.1686G>C (p.Leu562Phe)
c.2106G>C (p.Leu702Phe)
c.819G>C (p.Leu273Phe)
n.1024G>C
c.2163G>C (p.Leu721Phe)
c.426G>C (p.Leu142Phe)
n.340G>C
c.1287G>C (p.Leu429Phe)
c.1925G>C
c.1788G>C (p.Leu596Phe)
n.1466G>C
c.1233G>C (p.Leu411Phe)
c.2178G>C (p.Leu726Phe)
c.2166G>C (p.Leu722Phe)
c.1785G>C (p.Leu595Phe)
c.1713G>C (p.Leu571Phe)
c.1212G>C (p.Leu404Phe)
c.2079G>C (p.Leu693Phe)
c.2025G>C (p.Leu675Phe)
c.2103G>C (p.Leu701Phe)
c.2088G>C (p.Leu696Phe)
c.1716G>C (p.Leu572Phe)
c.2004G>C (p.Leu668Phe)
c.1608G>C (p.Leu536Phe)
c.1320G>C (p.Leu440Phe)
c.1641G>C (p.Leu547Phe)
c.1554G>C (p.Leu518Phe)
c.1323G>C (p.Leu441Phe)
c.1248G>C (p.Leu416Phe)
c.1245G>C (p.Leu415Phe)
c.2091G>C (p.Leu697Phe)
c.1557G>C (p.Leu519Phe)
c.1638G>C (p.Leu546Phe)
c.2076G>C (p.Leu692Phe)
n.2246G>C
c.1209G>C (p.Leu403Phe)
n.2118G>C
14g.88610917G>TCA390566337ZC3H14c.2181G>T (p.Leu727Phe)
c.*1389G>T (n.*1389G>T)
c.1710G>T (p.Leu570Phe)
c.891G>T (p.Leu297Phe)
c.1686G>T (p.Leu562Phe)
c.2106G>T (p.Leu702Phe)
c.819G>T (p.Leu273Phe)
n.1024G>T
c.2163G>T (p.Leu721Phe)
c.426G>T (p.Leu142Phe)
n.340G>T
c.1287G>T (p.Leu429Phe)
c.1925G>T
c.1788G>T (p.Leu596Phe)
n.1466G>T
c.1233G>T (p.Leu411Phe)
c.2178G>T (p.Leu726Phe)
c.2166G>T (p.Leu722Phe)
c.1785G>T (p.Leu595Phe)
c.1713G>T (p.Leu571Phe)
c.1212G>T (p.Leu404Phe)
c.2079G>T (p.Leu693Phe)
c.2025G>T (p.Leu675Phe)
c.2103G>T (p.Leu701Phe)
c.2088G>T (p.Leu696Phe)
c.1716G>T (p.Leu572Phe)
c.2004G>T (p.Leu668Phe)
c.1608G>T (p.Leu536Phe)
c.1320G>T (p.Leu440Phe)
c.1641G>T (p.Leu547Phe)
c.1554G>T (p.Leu518Phe)
c.1323G>T (p.Leu441Phe)
c.1248G>T (p.Leu416Phe)
c.1245G>T (p.Leu415Phe)
c.2091G>T (p.Leu697Phe)
c.1557G>T (p.Leu519Phe)
c.1638G>T (p.Leu546Phe)
c.2076G>T (p.Leu692Phe)
n.2246G>T
c.1209G>T (p.Leu403Phe)
n.2118G>T
14g.88610918A>CCA390566349ZC3H14c.2182A>C (p.Lys728Gln)
c.*1390A>C (n.*1390A>C)
c.1711A>C (p.Lys571Gln)
c.892A>C (p.Lys298Gln)
c.1687A>C (p.Lys563Gln)
c.2107A>C (p.Lys703Gln)
c.820A>C (p.Lys274Gln)
n.1025A>C
c.2164A>C (p.Lys722Gln)
c.427A>C (p.Lys143Gln)
n.341A>C
c.1288A>C (p.Lys430Gln)
c.1926A>C
c.1789A>C (p.Lys597Gln)
n.1467A>C
c.1234A>C (p.Lys412Gln)
c.2179A>C (p.Lys727Gln)
c.2167A>C (p.Lys723Gln)
c.1786A>C (p.Lys596Gln)
c.1714A>C (p.Lys572Gln)
c.1213A>C (p.Lys405Gln)
c.2080A>C (p.Lys694Gln)
c.2026A>C (p.Lys676Gln)
c.2104A>C (p.Lys702Gln)
c.2089A>C (p.Lys697Gln)
c.1717A>C (p.Lys573Gln)
c.2005A>C (p.Lys669Gln)
c.1609A>C (p.Lys537Gln)
c.1321A>C (p.Lys441Gln)
c.1642A>C (p.Lys548Gln)
c.1555A>C (p.Lys519Gln)
c.1324A>C (p.Lys442Gln)
c.1249A>C (p.Lys417Gln)
c.1246A>C (p.Lys416Gln)
c.2092A>C (p.Lys698Gln)
c.1558A>C (p.Lys520Gln)
c.1639A>C (p.Lys547Gln)
c.2077A>C (p.Lys693Gln)
n.2247A>C
c.1210A>C (p.Lys404Gln)
n.2119A>C
14g.88610918A>GCA390566345ZC3H14c.2182A>G (p.Lys728Glu)
c.*1390A>G (n.*1390A>G)
c.1711A>G (p.Lys571Glu)
c.892A>G (p.Lys298Glu)
c.1687A>G (p.Lys563Glu)
c.2107A>G (p.Lys703Glu)
c.820A>G (p.Lys274Glu)
n.1025A>G
c.2164A>G (p.Lys722Glu)
c.427A>G (p.Lys143Glu)
n.341A>G
c.1288A>G (p.Lys430Glu)
c.1926A>G
c.1789A>G (p.Lys597Glu)
n.1467A>G
c.1234A>G (p.Lys412Glu)
c.2179A>G (p.Lys727Glu)
c.2167A>G (p.Lys723Glu)
c.1786A>G (p.Lys596Glu)
c.1714A>G (p.Lys572Glu)
c.1213A>G (p.Lys405Glu)
c.2080A>G (p.Lys694Glu)
c.2026A>G (p.Lys676Glu)
c.2104A>G (p.Lys702Glu)
c.2089A>G (p.Lys697Glu)
c.1717A>G (p.Lys573Glu)
c.2005A>G (p.Lys669Glu)
c.1609A>G (p.Lys537Glu)
c.1321A>G (p.Lys441Glu)
c.1642A>G (p.Lys548Glu)
c.1555A>G (p.Lys519Glu)
c.1324A>G (p.Lys442Glu)
c.1249A>G (p.Lys417Glu)
c.1246A>G (p.Lys416Glu)
c.2092A>G (p.Lys698Glu)
c.1558A>G (p.Lys520Glu)
c.1639A>G (p.Lys547Glu)
c.2077A>G (p.Lys693Glu)
n.2247A>G
c.1210A>G (p.Lys404Glu)
n.2119A>G
14g.88610918A>TCA390566343ZC3H14c.2182A>T (p.Lys728Ter)
c.*1390A>T (n.*1390A>T)
c.1711A>T (p.Lys571Ter)
c.892A>T (p.Lys298Ter)
c.1687A>T (p.Lys563Ter)
c.2107A>T (p.Lys703Ter)
c.820A>T (p.Lys274Ter)
n.1025A>T
c.2164A>T (p.Lys722Ter)
c.427A>T (p.Lys143Ter)
n.341A>T
c.1288A>T (p.Lys430Ter)
c.1926A>T
c.1789A>T (p.Lys597Ter)
n.1467A>T
c.1234A>T (p.Lys412Ter)
c.2179A>T (p.Lys727Ter)
c.2167A>T (p.Lys723Ter)
c.1786A>T (p.Lys596Ter)
c.1714A>T (p.Lys572Ter)
c.1213A>T (p.Lys405Ter)
c.2080A>T (p.Lys694Ter)
c.2026A>T (p.Lys676Ter)
c.2104A>T (p.Lys702Ter)
c.2089A>T (p.Lys697Ter)
c.1717A>T (p.Lys573Ter)
c.2005A>T (p.Lys669Ter)
c.1609A>T (p.Lys537Ter)
c.1321A>T (p.Lys441Ter)
c.1642A>T (p.Lys548Ter)
c.1555A>T (p.Lys519Ter)
c.1324A>T (p.Lys442Ter)
c.1249A>T (p.Lys417Ter)
c.1246A>T (p.Lys416Ter)
c.2092A>T (p.Lys698Ter)
c.1558A>T (p.Lys520Ter)
c.1639A>T (p.Lys547Ter)
c.2077A>T (p.Lys693Ter)
n.2247A>T
c.1210A>T (p.Lys404Ter)
n.2119A>T
14g.88610919A>CCA390566352ZC3H14c.2183A>C (p.Lys728Thr)
c.*1391A>C (n.*1391A>C)
c.1712A>C (p.Lys571Thr)
c.893A>C (p.Lys298Thr)
c.1688A>C (p.Lys563Thr)
c.2108A>C (p.Lys703Thr)
c.821A>C (p.Lys274Thr)
n.1026A>C
c.2165A>C (p.Lys722Thr)
c.428A>C (p.Lys143Thr)
n.342A>C
c.1289A>C (p.Lys430Thr)
c.1927A>C
c.1790A>C (p.Lys597Thr)
n.1468A>C
c.1235A>C (p.Lys412Thr)
c.2180A>C (p.Lys727Thr)
c.2168A>C (p.Lys723Thr)
c.1787A>C (p.Lys596Thr)
c.1715A>C (p.Lys572Thr)
c.1214A>C (p.Lys405Thr)
c.2081A>C (p.Lys694Thr)
c.2027A>C (p.Lys676Thr)
c.2105A>C (p.Lys702Thr)
c.2090A>C (p.Lys697Thr)
c.1718A>C (p.Lys573Thr)
c.2006A>C (p.Lys669Thr)
c.1610A>C (p.Lys537Thr)
c.1322A>C (p.Lys441Thr)
c.1643A>C (p.Lys548Thr)
c.1556A>C (p.Lys519Thr)
c.1325A>C (p.Lys442Thr)
c.1250A>C (p.Lys417Thr)
c.1247A>C (p.Lys416Thr)
c.2093A>C (p.Lys698Thr)
c.1559A>C (p.Lys520Thr)
c.1640A>C (p.Lys547Thr)
c.2078A>C (p.Lys693Thr)
n.2248A>C
c.1211A>C (p.Lys404Thr)
n.2120A>C
14g.88610919A>GCA390566355ZC3H14c.2183A>G (p.Lys728Arg)
c.*1391A>G (n.*1391A>G)
c.1712A>G (p.Lys571Arg)
c.893A>G (p.Lys298Arg)
c.1688A>G (p.Lys563Arg)
c.2108A>G (p.Lys703Arg)
c.821A>G (p.Lys274Arg)
n.1026A>G
c.2165A>G (p.Lys722Arg)
c.428A>G (p.Lys143Arg)
n.342A>G
c.1289A>G (p.Lys430Arg)
c.1927A>G
c.1790A>G (p.Lys597Arg)
n.1468A>G
c.1235A>G (p.Lys412Arg)
c.2180A>G (p.Lys727Arg)
c.2168A>G (p.Lys723Arg)
c.1787A>G (p.Lys596Arg)
c.1715A>G (p.Lys572Arg)
c.1214A>G (p.Lys405Arg)
c.2081A>G (p.Lys694Arg)
c.2027A>G (p.Lys676Arg)
c.2105A>G (p.Lys702Arg)
c.2090A>G (p.Lys697Arg)
c.1718A>G (p.Lys573Arg)
c.2006A>G (p.Lys669Arg)
c.1610A>G (p.Lys537Arg)
c.1322A>G (p.Lys441Arg)
c.1643A>G (p.Lys548Arg)
c.1556A>G (p.Lys519Arg)
c.1325A>G (p.Lys442Arg)
c.1250A>G (p.Lys417Arg)
c.1247A>G (p.Lys416Arg)
c.2093A>G (p.Lys698Arg)
c.1559A>G (p.Lys520Arg)
c.1640A>G (p.Lys547Arg)
c.2078A>G (p.Lys693Arg)
n.2248A>G
c.1211A>G (p.Lys404Arg)
n.2120A>G
14g.88610919A>TCA390566358ZC3H14c.2183A>T (p.Lys728Ile)
c.*1391A>T (n.*1391A>T)
c.1712A>T (p.Lys571Ile)
c.893A>T (p.Lys298Ile)
c.1688A>T (p.Lys563Ile)
c.2108A>T (p.Lys703Ile)
c.821A>T (p.Lys274Ile)
n.1026A>T
c.2165A>T (p.Lys722Ile)
c.428A>T (p.Lys143Ile)
n.342A>T
c.1289A>T (p.Lys430Ile)
c.1927A>T
c.1790A>T (p.Lys597Ile)
n.1468A>T
c.1235A>T (p.Lys412Ile)
c.2180A>T (p.Lys727Ile)
c.2168A>T (p.Lys723Ile)
c.1787A>T (p.Lys596Ile)
c.1715A>T (p.Lys572Ile)
c.1214A>T (p.Lys405Ile)
c.2081A>T (p.Lys694Ile)
c.2027A>T (p.Lys676Ile)
c.2105A>T (p.Lys702Ile)
c.2090A>T (p.Lys697Ile)
c.1718A>T (p.Lys573Ile)
c.2006A>T (p.Lys669Ile)
c.1610A>T (p.Lys537Ile)
c.1322A>T (p.Lys441Ile)
c.1643A>T (p.Lys548Ile)
c.1556A>T (p.Lys519Ile)
c.1325A>T (p.Lys442Ile)
c.1250A>T (p.Lys417Ile)
c.1247A>T (p.Lys416Ile)
c.2093A>T (p.Lys698Ile)
c.1559A>T (p.Lys520Ile)
c.1640A>T (p.Lys547Ile)
c.2078A>T (p.Lys693Ile)
n.2248A>T
c.1211A>T (p.Lys404Ile)
n.2120A>T
14g.88610920A=CA2153694413ZC3H14c.2184A= (p.Lys728=)
c.*1392A= (n.*1392A=)
c.1713A= (p.Lys571=)
c.894A= (p.Lys298=)
c.1689A= (p.Lys563=)
c.2109A= (p.Lys703=)
c.822A= (p.Lys274=)
n.1027A=
c.2166A= (p.Lys722=)
c.429A= (p.Lys143=)
n.343A=
c.1290A= (p.Lys430=)
c.1928A=
c.1791A= (p.Lys597=)
n.1469A=
c.1236A= (p.Lys412=)
c.2181A= (p.Lys727=)
c.2169A= (p.Lys723=)
c.1788A= (p.Lys596=)
c.1716A= (p.Lys572=)
c.1215A= (p.Lys405=)
c.2082A= (p.Lys694=)
c.2028A= (p.Lys676=)
c.2106A= (p.Lys702=)
c.2091A= (p.Lys697=)
c.1719A= (p.Lys573=)
c.2007A= (p.Lys669=)
c.1611A= (p.Lys537=)
c.1323A= (p.Lys441=)
c.1644A= (p.Lys548=)
c.1557A= (p.Lys519=)
c.1326A= (p.Lys442=)
c.1251A= (p.Lys417=)
c.1248A= (p.Lys416=)
c.2094A= (p.Lys698=)
c.1560A= (p.Lys520=)
c.1641A= (p.Lys547=)
c.2079A= (p.Lys693=)
n.2249A=
c.1212A= (p.Lys404=)
n.2121A=
14g.88610920A>CCA390566361ZC3H14c.2184A>C (p.Lys728Asn)
c.*1392A>C (n.*1392A>C)
c.1713A>C (p.Lys571Asn)
c.894A>C (p.Lys298Asn)
c.1689A>C (p.Lys563Asn)
c.2109A>C (p.Lys703Asn)
c.822A>C (p.Lys274Asn)
n.1027A>C
c.2166A>C (p.Lys722Asn)
c.429A>C (p.Lys143Asn)
n.343A>C
c.1290A>C (p.Lys430Asn)
c.1928A>C
c.1791A>C (p.Lys597Asn)
n.1469A>C
c.1236A>C (p.Lys412Asn)
c.2181A>C (p.Lys727Asn)
c.2169A>C (p.Lys723Asn)
c.1788A>C (p.Lys596Asn)
c.1716A>C (p.Lys572Asn)
c.1215A>C (p.Lys405Asn)
c.2082A>C (p.Lys694Asn)
c.2028A>C (p.Lys676Asn)
c.2106A>C (p.Lys702Asn)
c.2091A>C (p.Lys697Asn)
c.1719A>C (p.Lys573Asn)
c.2007A>C (p.Lys669Asn)
c.1611A>C (p.Lys537Asn)
c.1323A>C (p.Lys441Asn)
c.1644A>C (p.Lys548Asn)
c.1557A>C (p.Lys519Asn)
c.1326A>C (p.Lys442Asn)
c.1251A>C (p.Lys417Asn)
c.1248A>C (p.Lys416Asn)
c.2094A>C (p.Lys698Asn)
c.1560A>C (p.Lys520Asn)
c.1641A>C (p.Lys547Asn)
c.2079A>C (p.Lys693Asn)
n.2249A>C
c.1212A>C (p.Lys404Asn)
n.2121A>C
14g.88610920A>GCA487280459ZC3H14c.2184A>G (p.Lys728=)
c.*1392A>G (n.*1392A>G)
c.1713A>G (p.Lys571=)
c.894A>G (p.Lys298=)
c.1689A>G (p.Lys563=)
c.2109A>G (p.Lys703=)
c.822A>G (p.Lys274=)
n.1027A>G
c.2166A>G (p.Lys722=)
c.429A>G (p.Lys143=)
n.343A>G
c.1290A>G (p.Lys430=)
c.1928A>G
c.1791A>G (p.Lys597=)
n.1469A>G
c.1236A>G (p.Lys412=)
c.2181A>G (p.Lys727=)
c.2169A>G (p.Lys723=)
c.1788A>G (p.Lys596=)
c.1716A>G (p.Lys572=)
c.1215A>G (p.Lys405=)
c.2082A>G (p.Lys694=)
c.2028A>G (p.Lys676=)
c.2106A>G (p.Lys702=)
c.2091A>G (p.Lys697=)
c.1719A>G (p.Lys573=)
c.2007A>G (p.Lys669=)
c.1611A>G (p.Lys537=)
c.1323A>G (p.Lys441=)
c.1644A>G (p.Lys548=)
c.1557A>G (p.Lys519=)
c.1326A>G (p.Lys442=)
c.1251A>G (p.Lys417=)
c.1248A>G (p.Lys416=)
c.2094A>G (p.Lys698=)
c.1560A>G (p.Lys520=)
c.1641A>G (p.Lys547=)
c.2079A>G (p.Lys693=)
n.2249A>G
c.1212A>G (p.Lys404=)
n.2121A>G
 ClinVar dbSNP gnomAD v4
14g.88610920A>TCA390566362ZC3H14c.2184A>T (p.Lys728Asn)
c.*1392A>T (n.*1392A>T)
c.1713A>T (p.Lys571Asn)
c.894A>T (p.Lys298Asn)
c.1689A>T (p.Lys563Asn)
c.2109A>T (p.Lys703Asn)
c.822A>T (p.Lys274Asn)
n.1027A>T
c.2166A>T (p.Lys722Asn)
c.429A>T (p.Lys143Asn)
n.343A>T
c.1290A>T (p.Lys430Asn)
c.1928A>T
c.1791A>T (p.Lys597Asn)
n.1469A>T
c.1236A>T (p.Lys412Asn)
c.2181A>T (p.Lys727Asn)
c.2169A>T (p.Lys723Asn)
c.1788A>T (p.Lys596Asn)
c.1716A>T (p.Lys572Asn)
c.1215A>T (p.Lys405Asn)
c.2082A>T (p.Lys694Asn)
c.2028A>T (p.Lys676Asn)
c.2106A>T (p.Lys702Asn)
c.2091A>T (p.Lys697Asn)
c.1719A>T (p.Lys573Asn)
c.2007A>T (p.Lys669Asn)
c.1611A>T (p.Lys537Asn)
c.1323A>T (p.Lys441Asn)
c.1644A>T (p.Lys548Asn)
c.1557A>T (p.Lys519Asn)
c.1326A>T (p.Lys442Asn)
c.1251A>T (p.Lys417Asn)
c.1248A>T (p.Lys416Asn)
c.2094A>T (p.Lys698Asn)
c.1560A>T (p.Lys520Asn)
c.1641A>T (p.Lys547Asn)
c.2079A>T (p.Lys693Asn)
n.2249A>T
c.1212A>T (p.Lys404Asn)
n.2121A>T
14g.88610921T>ACA390566363ZC3H14c.2185T>A (p.Trp729Arg)
c.*1393T>A (n.*1393T>A)
c.1714T>A (p.Trp572Arg)
c.895T>A (p.Trp299Arg)
c.1690T>A (p.Trp564Arg)
c.2110T>A (p.Trp704Arg)
c.823T>A (p.Trp275Arg)
n.1028T>A
c.2167T>A (p.Trp723Arg)
c.430T>A (p.Trp144Arg)
n.344T>A
c.1291T>A (p.Trp431Arg)
c.1929T>A
c.1792T>A (p.Trp598Arg)
n.1470T>A
c.1237T>A (p.Trp413Arg)
c.2182T>A (p.Trp728Arg)
c.2170T>A (p.Trp724Arg)
c.1789T>A (p.Trp597Arg)
c.1717T>A (p.Trp573Arg)
c.1216T>A (p.Trp406Arg)
c.2083T>A (p.Trp695Arg)
c.2029T>A (p.Trp677Arg)
c.2107T>A (p.Trp703Arg)
c.2092T>A (p.Trp698Arg)
c.1720T>A (p.Trp574Arg)
c.2008T>A (p.Trp670Arg)
c.1612T>A (p.Trp538Arg)
c.1324T>A (p.Trp442Arg)
c.1645T>A (p.Trp549Arg)
c.1558T>A (p.Trp520Arg)
c.1327T>A (p.Trp443Arg)
c.1252T>A (p.Trp418Arg)
c.1249T>A (p.Trp417Arg)
c.2095T>A (p.Trp699Arg)
c.1561T>A (p.Trp521Arg)
c.1642T>A (p.Trp548Arg)
c.2080T>A (p.Trp694Arg)
n.2250T>A
c.1213T>A (p.Trp405Arg)
n.2122T>A
14g.88610921T>CCA390566366ZC3H14c.2185T>C (p.Trp729Arg)
c.*1393T>C (n.*1393T>C)
c.1714T>C (p.Trp572Arg)
c.895T>C (p.Trp299Arg)
c.1690T>C (p.Trp564Arg)
c.2110T>C (p.Trp704Arg)
c.823T>C (p.Trp275Arg)
n.1028T>C
c.2167T>C (p.Trp723Arg)
c.430T>C (p.Trp144Arg)
n.344T>C
c.1291T>C (p.Trp431Arg)
c.1929T>C
c.1792T>C (p.Trp598Arg)
n.1470T>C
c.1237T>C (p.Trp413Arg)
c.2182T>C (p.Trp728Arg)
c.2170T>C (p.Trp724Arg)
c.1789T>C (p.Trp597Arg)
c.1717T>C (p.Trp573Arg)
c.1216T>C (p.Trp406Arg)
c.2083T>C (p.Trp695Arg)
c.2029T>C (p.Trp677Arg)
c.2107T>C (p.Trp703Arg)
c.2092T>C (p.Trp698Arg)
c.1720T>C (p.Trp574Arg)
c.2008T>C (p.Trp670Arg)
c.1612T>C (p.Trp538Arg)
c.1324T>C (p.Trp442Arg)
c.1645T>C (p.Trp549Arg)
c.1558T>C (p.Trp520Arg)
c.1327T>C (p.Trp443Arg)
c.1252T>C (p.Trp418Arg)
c.1249T>C (p.Trp417Arg)
c.2095T>C (p.Trp699Arg)
c.1561T>C (p.Trp521Arg)
c.1642T>C (p.Trp548Arg)
c.2080T>C (p.Trp694Arg)
n.2250T>C
c.1213T>C (p.Trp405Arg)
n.2122T>C
14g.88610921T>GCA390566370ZC3H14c.2185T>G (p.Trp729Gly)
c.*1393T>G (n.*1393T>G)
c.1714T>G (p.Trp572Gly)
c.895T>G (p.Trp299Gly)
c.1690T>G (p.Trp564Gly)
c.2110T>G (p.Trp704Gly)
c.823T>G (p.Trp275Gly)
n.1028T>G
c.2167T>G (p.Trp723Gly)
c.430T>G (p.Trp144Gly)
n.344T>G
c.1291T>G (p.Trp431Gly)
c.1929T>G
c.1792T>G (p.Trp598Gly)
n.1470T>G
c.1237T>G (p.Trp413Gly)
c.2182T>G (p.Trp728Gly)
c.2170T>G (p.Trp724Gly)
c.1789T>G (p.Trp597Gly)
c.1717T>G (p.Trp573Gly)
c.1216T>G (p.Trp406Gly)
c.2083T>G (p.Trp695Gly)
c.2029T>G (p.Trp677Gly)
c.2107T>G (p.Trp703Gly)
c.2092T>G (p.Trp698Gly)
c.1720T>G (p.Trp574Gly)
c.2008T>G (p.Trp670Gly)
c.1612T>G (p.Trp538Gly)
c.1324T>G (p.Trp442Gly)
c.1645T>G (p.Trp549Gly)
c.1558T>G (p.Trp520Gly)
c.1327T>G (p.Trp443Gly)
c.1252T>G (p.Trp418Gly)
c.1249T>G (p.Trp417Gly)
c.2095T>G (p.Trp699Gly)
c.1561T>G (p.Trp521Gly)
c.1642T>G (p.Trp548Gly)
c.2080T>G (p.Trp694Gly)
n.2250T>G
c.1213T>G (p.Trp405Gly)
n.2122T>G
14g.88610922G>ACA390566372ZC3H14c.2186G>A (p.Trp729Ter)
c.*1394G>A (n.*1394G>A)
c.1715G>A (p.Trp572Ter)
c.896G>A (p.Trp299Ter)
c.1691G>A (p.Trp564Ter)
c.2111G>A (p.Trp704Ter)
c.824G>A (p.Trp275Ter)
n.1029G>A
c.2168G>A (p.Trp723Ter)
c.431G>A (p.Trp144Ter)
n.345G>A
c.1292G>A (p.Trp431Ter)
c.1930G>A
c.1793G>A (p.Trp598Ter)
n.1471G>A
c.1238G>A (p.Trp413Ter)
c.2183G>A (p.Trp728Ter)
c.2171G>A (p.Trp724Ter)
c.1790G>A (p.Trp597Ter)
c.1718G>A (p.Trp573Ter)
c.1217G>A (p.Trp406Ter)
c.2084G>A (p.Trp695Ter)
c.2030G>A (p.Trp677Ter)
c.2108G>A (p.Trp703Ter)
c.2093G>A (p.Trp698Ter)
c.1721G>A (p.Trp574Ter)
c.2009G>A (p.Trp670Ter)
c.1613G>A (p.Trp538Ter)
c.1325G>A (p.Trp442Ter)
c.1646G>A (p.Trp549Ter)
c.1559G>A (p.Trp520Ter)
c.1328G>A (p.Trp443Ter)
c.1253G>A (p.Trp418Ter)
c.1250G>A (p.Trp417Ter)
c.2096G>A (p.Trp699Ter)
c.1562G>A (p.Trp521Ter)
c.1643G>A (p.Trp548Ter)
c.2081G>A (p.Trp694Ter)
n.2251G>A
c.1214G>A (p.Trp405Ter)
n.2123G>A
 gnomAD v4
14g.88610922G>CCA390566373ZC3H14c.2186G>C (p.Trp729Ser)
c.*1394G>C (n.*1394G>C)
c.1715G>C (p.Trp572Ser)
c.896G>C (p.Trp299Ser)
c.1691G>C (p.Trp564Ser)
c.2111G>C (p.Trp704Ser)
c.824G>C (p.Trp275Ser)
n.1029G>C
c.2168G>C (p.Trp723Ser)
c.431G>C (p.Trp144Ser)
n.345G>C
c.1292G>C (p.Trp431Ser)
c.1930G>C
c.1793G>C (p.Trp598Ser)
n.1471G>C
c.1238G>C (p.Trp413Ser)
c.2183G>C (p.Trp728Ser)
c.2171G>C (p.Trp724Ser)
c.1790G>C (p.Trp597Ser)
c.1718G>C (p.Trp573Ser)
c.1217G>C (p.Trp406Ser)
c.2084G>C (p.Trp695Ser)
c.2030G>C (p.Trp677Ser)
c.2108G>C (p.Trp703Ser)
c.2093G>C (p.Trp698Ser)
c.1721G>C (p.Trp574Ser)
c.2009G>C (p.Trp670Ser)
c.1613G>C (p.Trp538Ser)
c.1325G>C (p.Trp442Ser)
c.1646G>C (p.Trp549Ser)
c.1559G>C (p.Trp520Ser)
c.1328G>C (p.Trp443Ser)
c.1253G>C (p.Trp418Ser)
c.1250G>C (p.Trp417Ser)
c.2096G>C (p.Trp699Ser)
c.1562G>C (p.Trp521Ser)
c.1643G>C (p.Trp548Ser)
c.2081G>C (p.Trp694Ser)
n.2251G>C
c.1214G>C (p.Trp405Ser)
n.2123G>C
14g.88610922G=CA2153694414ZC3H14c.2186G= (p.Trp729=)
c.*1394G= (n.*1394G=)
c.1715G= (p.Trp572=)
c.896G= (p.Trp299=)
c.1691G= (p.Trp564=)
c.2111G= (p.Trp704=)
c.824G= (p.Trp275=)
n.1029G=
c.2168G= (p.Trp723=)
c.431G= (p.Trp144=)
n.345G=
c.1292G= (p.Trp431=)
c.1930G=
c.1793G= (p.Trp598=)
n.1471G=
c.1238G= (p.Trp413=)
c.2183G= (p.Trp728=)
c.2171G= (p.Trp724=)
c.1790G= (p.Trp597=)
c.1718G= (p.Trp573=)
c.1217G= (p.Trp406=)
c.2084G= (p.Trp695=)
c.2030G= (p.Trp677=)
c.2108G= (p.Trp703=)
c.2093G= (p.Trp698=)
c.1721G= (p.Trp574=)
c.2009G= (p.Trp670=)
c.1613G= (p.Trp538=)
c.1325G= (p.Trp442=)
c.1646G= (p.Trp549=)
c.1559G= (p.Trp520=)
c.1328G= (p.Trp443=)
c.1253G= (p.Trp418=)
c.1250G= (p.Trp417=)
c.2096G= (p.Trp699=)
c.1562G= (p.Trp521=)
c.1643G= (p.Trp548=)
c.2081G= (p.Trp694=)
n.2251G=
c.1214G= (p.Trp405=)
n.2123G=
14g.88610922G>TCA7300785ZC3H14c.2186G>T (p.Trp729Leu)
c.*1394G>T (n.*1394G>T)
c.1715G>T (p.Trp572Leu)
c.896G>T (p.Trp299Leu)
c.1691G>T (p.Trp564Leu)
c.2111G>T (p.Trp704Leu)
c.824G>T (p.Trp275Leu)
n.1029G>T
c.2168G>T (p.Trp723Leu)
c.431G>T (p.Trp144Leu)
n.345G>T
c.1292G>T (p.Trp431Leu)
c.1930G>T
c.1793G>T (p.Trp598Leu)
n.1471G>T
c.1238G>T (p.Trp413Leu)
c.2183G>T (p.Trp728Leu)
c.2171G>T (p.Trp724Leu)
c.1790G>T (p.Trp597Leu)
c.1718G>T (p.Trp573Leu)
c.1217G>T (p.Trp406Leu)
c.2084G>T (p.Trp695Leu)
c.2030G>T (p.Trp677Leu)
c.2108G>T (p.Trp703Leu)
c.2093G>T (p.Trp698Leu)
c.1721G>T (p.Trp574Leu)
c.2009G>T (p.Trp670Leu)
c.1613G>T (p.Trp538Leu)
c.1325G>T (p.Trp442Leu)
c.1646G>T (p.Trp549Leu)
c.1559G>T (p.Trp520Leu)
c.1328G>T (p.Trp443Leu)
c.1253G>T (p.Trp418Leu)
c.1250G>T (p.Trp417Leu)
c.2096G>T (p.Trp699Leu)
c.1562G>T (p.Trp521Leu)
c.1643G>T (p.Trp548Leu)
c.2081G>T (p.Trp694Leu)
n.2251G>T
c.1214G>T (p.Trp405Leu)
n.2123G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.88610923G>ACA390566375ZC3H14c.2187G>A (p.Trp729Ter)
c.*1395G>A (n.*1395G>A)
c.1716G>A (p.Trp572Ter)
c.897G>A (p.Trp299Ter)
c.1692G>A (p.Trp564Ter)
c.2112G>A (p.Trp704Ter)
c.825G>A (p.Trp275Ter)
n.1030G>A
c.2169G>A (p.Trp723Ter)
c.432G>A (p.Trp144Ter)
n.346G>A
c.1293G>A (p.Trp431Ter)
c.1931G>A
c.1794G>A (p.Trp598Ter)
n.1472G>A
c.1239G>A (p.Trp413Ter)
c.2184G>A (p.Trp728Ter)
c.2172G>A (p.Trp724Ter)
c.1791G>A (p.Trp597Ter)
c.1719G>A (p.Trp573Ter)
c.1218G>A (p.Trp406Ter)
c.2085G>A (p.Trp695Ter)
c.2031G>A (p.Trp677Ter)
c.2109G>A (p.Trp703Ter)
c.2094G>A (p.Trp698Ter)
c.1722G>A (p.Trp574Ter)
c.2010G>A (p.Trp670Ter)
c.1614G>A (p.Trp538Ter)
c.1326G>A (p.Trp442Ter)
c.1647G>A (p.Trp549Ter)
c.1560G>A (p.Trp520Ter)
c.1329G>A (p.Trp443Ter)
c.1254G>A (p.Trp418Ter)
c.1251G>A (p.Trp417Ter)
c.2097G>A (p.Trp699Ter)
c.1563G>A (p.Trp521Ter)
c.1644G>A (p.Trp548Ter)
c.2082G>A (p.Trp694Ter)
n.2252G>A
c.1215G>A (p.Trp405Ter)
n.2124G>A
14g.88610923G>CCA390566377ZC3H14c.2187G>C (p.Trp729Cys)
c.*1395G>C (n.*1395G>C)
c.1716G>C (p.Trp572Cys)
c.897G>C (p.Trp299Cys)
c.1692G>C (p.Trp564Cys)
c.2112G>C (p.Trp704Cys)
c.825G>C (p.Trp275Cys)
n.1030G>C
c.2169G>C (p.Trp723Cys)
c.432G>C (p.Trp144Cys)
n.346G>C
c.1293G>C (p.Trp431Cys)
c.1931G>C
c.1794G>C (p.Trp598Cys)
n.1472G>C
c.1239G>C (p.Trp413Cys)
c.2184G>C (p.Trp728Cys)
c.2172G>C (p.Trp724Cys)
c.1791G>C (p.Trp597Cys)
c.1719G>C (p.Trp573Cys)
c.1218G>C (p.Trp406Cys)
c.2085G>C (p.Trp695Cys)
c.2031G>C (p.Trp677Cys)
c.2109G>C (p.Trp703Cys)
c.2094G>C (p.Trp698Cys)
c.1722G>C (p.Trp574Cys)
c.2010G>C (p.Trp670Cys)
c.1614G>C (p.Trp538Cys)
c.1326G>C (p.Trp442Cys)
c.1647G>C (p.Trp549Cys)
c.1560G>C (p.Trp520Cys)
c.1329G>C (p.Trp443Cys)
c.1254G>C (p.Trp418Cys)
c.1251G>C (p.Trp417Cys)
c.2097G>C (p.Trp699Cys)
c.1563G>C (p.Trp521Cys)
c.1644G>C (p.Trp548Cys)
c.2082G>C (p.Trp694Cys)
n.2252G>C
c.1215G>C (p.Trp405Cys)
n.2124G>C
14g.88610923G>TCA390566380ZC3H14c.2187G>T (p.Trp729Cys)
c.*1395G>T (n.*1395G>T)
c.1716G>T (p.Trp572Cys)
c.897G>T (p.Trp299Cys)
c.1692G>T (p.Trp564Cys)
c.2112G>T (p.Trp704Cys)
c.825G>T (p.Trp275Cys)
n.1030G>T
c.2169G>T (p.Trp723Cys)
c.432G>T (p.Trp144Cys)
n.346G>T
c.1293G>T (p.Trp431Cys)
c.1931G>T
c.1794G>T (p.Trp598Cys)
n.1472G>T
c.1239G>T (p.Trp413Cys)
c.2184G>T (p.Trp728Cys)
c.2172G>T (p.Trp724Cys)
c.1791G>T (p.Trp597Cys)
c.1719G>T (p.Trp573Cys)
c.1218G>T (p.Trp406Cys)
c.2085G>T (p.Trp695Cys)
c.2031G>T (p.Trp677Cys)
c.2109G>T (p.Trp703Cys)
c.2094G>T (p.Trp698Cys)
c.1722G>T (p.Trp574Cys)
c.2010G>T (p.Trp670Cys)
c.1614G>T (p.Trp538Cys)
c.1326G>T (p.Trp442Cys)
c.1647G>T (p.Trp549Cys)
c.1560G>T (p.Trp520Cys)
c.1329G>T (p.Trp443Cys)
c.1254G>T (p.Trp418Cys)
c.1251G>T (p.Trp417Cys)
c.2097G>T (p.Trp699Cys)
c.1563G>T (p.Trp521Cys)
c.1644G>T (p.Trp548Cys)
c.2082G>T (p.Trp694Cys)
n.2252G>T
c.1215G>T (p.Trp405Cys)
n.2124G>T
14g.88610924A>CCA390566386ZC3H14c.2188A>C (p.Ile730Leu)
c.*1396A>C (n.*1396A>C)
c.1717A>C (p.Ile573Leu)
c.898A>C (p.Ile300Leu)
c.1693A>C (p.Ile565Leu)
c.2113A>C (p.Ile705Leu)
c.826A>C (p.Ile276Leu)
n.1031A>C
c.2170A>C (p.Ile724Leu)
c.433A>C (p.Ile145Leu)
n.347A>C
c.1294A>C (p.Ile432Leu)
c.1932A>C
c.1795A>C (p.Ile599Leu)
n.1473A>C
c.1240A>C (p.Ile414Leu)
c.2185A>C (p.Ile729Leu)
c.2173A>C (p.Ile725Leu)
c.1792A>C (p.Ile598Leu)
c.1720A>C (p.Ile574Leu)
c.1219A>C (p.Ile407Leu)
c.2086A>C (p.Ile696Leu)
c.2032A>C (p.Ile678Leu)
c.2110A>C (p.Ile704Leu)
c.2095A>C (p.Ile699Leu)
c.1723A>C (p.Ile575Leu)
c.2011A>C (p.Ile671Leu)
c.1615A>C (p.Ile539Leu)
c.1327A>C (p.Ile443Leu)
c.1648A>C (p.Ile550Leu)
c.1561A>C (p.Ile521Leu)
c.1330A>C (p.Ile444Leu)
c.1255A>C (p.Ile419Leu)
c.1252A>C (p.Ile418Leu)
c.2098A>C (p.Ile700Leu)
c.1564A>C (p.Ile522Leu)
c.1645A>C (p.Ile549Leu)
c.2083A>C (p.Ile695Leu)
n.2253A>C
c.1216A>C (p.Ile406Leu)
n.2125A>C
14g.88610924A>GCA390566388ZC3H14c.2188A>G (p.Ile730Val)
c.*1396A>G (n.*1396A>G)
c.1717A>G (p.Ile573Val)
c.898A>G (p.Ile300Val)
c.1693A>G (p.Ile565Val)
c.2113A>G (p.Ile705Val)
c.826A>G (p.Ile276Val)
n.1031A>G
c.2170A>G (p.Ile724Val)
c.433A>G (p.Ile145Val)
n.347A>G
c.1294A>G (p.Ile432Val)
c.1932A>G
c.1795A>G (p.Ile599Val)
n.1473A>G
c.1240A>G (p.Ile414Val)
c.2185A>G (p.Ile729Val)
c.2173A>G (p.Ile725Val)
c.1792A>G (p.Ile598Val)
c.1720A>G (p.Ile574Val)
c.1219A>G (p.Ile407Val)
c.2086A>G (p.Ile696Val)
c.2032A>G (p.Ile678Val)
c.2110A>G (p.Ile704Val)
c.2095A>G (p.Ile699Val)
c.1723A>G (p.Ile575Val)
c.2011A>G (p.Ile671Val)
c.1615A>G (p.Ile539Val)
c.1327A>G (p.Ile443Val)
c.1648A>G (p.Ile550Val)
c.1561A>G (p.Ile521Val)
c.1330A>G (p.Ile444Val)
c.1255A>G (p.Ile419Val)
c.1252A>G (p.Ile418Val)
c.2098A>G (p.Ile700Val)
c.1564A>G (p.Ile522Val)
c.1645A>G (p.Ile549Val)
c.2083A>G (p.Ile695Val)
n.2253A>G
c.1216A>G (p.Ile406Val)
n.2125A>G
14g.88610924A>TCA390566383ZC3H14c.2188A>T (p.Ile730Phe)
c.*1396A>T (n.*1396A>T)
c.1717A>T (p.Ile573Phe)
c.898A>T (p.Ile300Phe)
c.1693A>T (p.Ile565Phe)
c.2113A>T (p.Ile705Phe)
c.826A>T (p.Ile276Phe)
n.1031A>T
c.2170A>T (p.Ile724Phe)
c.433A>T (p.Ile145Phe)
n.347A>T
c.1294A>T (p.Ile432Phe)
c.1932A>T
c.1795A>T (p.Ile599Phe)
n.1473A>T
c.1240A>T (p.Ile414Phe)
c.2185A>T (p.Ile729Phe)
c.2173A>T (p.Ile725Phe)
c.1792A>T (p.Ile598Phe)
c.1720A>T (p.Ile574Phe)
c.1219A>T (p.Ile407Phe)
c.2086A>T (p.Ile696Phe)
c.2032A>T (p.Ile678Phe)
c.2110A>T (p.Ile704Phe)
c.2095A>T (p.Ile699Phe)
c.1723A>T (p.Ile575Phe)
c.2011A>T (p.Ile671Phe)
c.1615A>T (p.Ile539Phe)
c.1327A>T (p.Ile443Phe)
c.1648A>T (p.Ile550Phe)
c.1561A>T (p.Ile521Phe)
c.1330A>T (p.Ile444Phe)
c.1255A>T (p.Ile419Phe)
c.1252A>T (p.Ile418Phe)
c.2098A>T (p.Ile700Phe)
c.1564A>T (p.Ile522Phe)
c.1645A>T (p.Ile549Phe)
c.2083A>T (p.Ile695Phe)
n.2253A>T
c.1216A>T (p.Ile406Phe)
n.2125A>T
14g.88610925T>ACA390566394ZC3H14c.2189T>A (p.Ile730Asn)
c.*1397T>A (n.*1397T>A)
c.1718T>A (p.Ile573Asn)
c.899T>A (p.Ile300Asn)
c.1694T>A (p.Ile565Asn)
c.2114T>A (p.Ile705Asn)
c.827T>A (p.Ile276Asn)
n.1032T>A
c.2171T>A (p.Ile724Asn)
c.434T>A (p.Ile145Asn)
n.348T>A
c.1295T>A (p.Ile432Asn)
c.1933T>A
c.1796T>A (p.Ile599Asn)
n.1474T>A
c.1241T>A (p.Ile414Asn)
c.2186T>A (p.Ile729Asn)
c.2174T>A (p.Ile725Asn)
c.1793T>A (p.Ile598Asn)
c.1721T>A (p.Ile574Asn)
c.1220T>A (p.Ile407Asn)
c.2087T>A (p.Ile696Asn)
c.2033T>A (p.Ile678Asn)
c.2111T>A (p.Ile704Asn)
c.2096T>A (p.Ile699Asn)
c.1724T>A (p.Ile575Asn)
c.2012T>A (p.Ile671Asn)
c.1616T>A (p.Ile539Asn)
c.1328T>A (p.Ile443Asn)
c.1649T>A (p.Ile550Asn)
c.1562T>A (p.Ile521Asn)
c.1331T>A (p.Ile444Asn)
c.1256T>A (p.Ile419Asn)
c.1253T>A (p.Ile418Asn)
c.2099T>A (p.Ile700Asn)
c.1565T>A (p.Ile522Asn)
c.1646T>A (p.Ile549Asn)
c.2084T>A (p.Ile695Asn)
n.2254T>A
c.1217T>A (p.Ile406Asn)
n.2126T>A
14g.88610925T>CCA390566395ZC3H14c.2189T>C (p.Ile730Thr)
c.*1397T>C (n.*1397T>C)
c.1718T>C (p.Ile573Thr)
c.899T>C (p.Ile300Thr)
c.1694T>C (p.Ile565Thr)
c.2114T>C (p.Ile705Thr)
c.827T>C (p.Ile276Thr)
n.1032T>C
c.2171T>C (p.Ile724Thr)
c.434T>C (p.Ile145Thr)
n.348T>C
c.1295T>C (p.Ile432Thr)
c.1933T>C
c.1796T>C (p.Ile599Thr)
n.1474T>C
c.1241T>C (p.Ile414Thr)
c.2186T>C (p.Ile729Thr)
c.2174T>C (p.Ile725Thr)
c.1793T>C (p.Ile598Thr)
c.1721T>C (p.Ile574Thr)
c.1220T>C (p.Ile407Thr)
c.2087T>C (p.Ile696Thr)
c.2033T>C (p.Ile678Thr)
c.2111T>C (p.Ile704Thr)
c.2096T>C (p.Ile699Thr)
c.1724T>C (p.Ile575Thr)
c.2012T>C (p.Ile671Thr)
c.1616T>C (p.Ile539Thr)
c.1328T>C (p.Ile443Thr)
c.1649T>C (p.Ile550Thr)
c.1562T>C (p.Ile521Thr)
c.1331T>C (p.Ile444Thr)
c.1256T>C (p.Ile419Thr)
c.1253T>C (p.Ile418Thr)
c.2099T>C (p.Ile700Thr)
c.1565T>C (p.Ile522Thr)
c.1646T>C (p.Ile549Thr)
c.2084T>C (p.Ile695Thr)
n.2254T>C
c.1217T>C (p.Ile406Thr)
n.2126T>C
 gnomAD v4
14g.88610925T>GCA390566397ZC3H14c.2189T>G (p.Ile730Ser)
c.*1397T>G (n.*1397T>G)
c.1718T>G (p.Ile573Ser)
c.899T>G (p.Ile300Ser)
c.1694T>G (p.Ile565Ser)
c.2114T>G (p.Ile705Ser)
c.827T>G (p.Ile276Ser)
n.1032T>G
c.2171T>G (p.Ile724Ser)
c.434T>G (p.Ile145Ser)
n.348T>G
c.1295T>G (p.Ile432Ser)
c.1933T>G
c.1796T>G (p.Ile599Ser)
n.1474T>G
c.1241T>G (p.Ile414Ser)
c.2186T>G (p.Ile729Ser)
c.2174T>G (p.Ile725Ser)
c.1793T>G (p.Ile598Ser)
c.1721T>G (p.Ile574Ser)
c.1220T>G (p.Ile407Ser)
c.2087T>G (p.Ile696Ser)
c.2033T>G (p.Ile678Ser)
c.2111T>G (p.Ile704Ser)
c.2096T>G (p.Ile699Ser)
c.1724T>G (p.Ile575Ser)
c.2012T>G (p.Ile671Ser)
c.1616T>G (p.Ile539Ser)
c.1328T>G (p.Ile443Ser)
c.1649T>G (p.Ile550Ser)
c.1562T>G (p.Ile521Ser)
c.1331T>G (p.Ile444Ser)
c.1256T>G (p.Ile419Ser)
c.1253T>G (p.Ile418Ser)
c.2099T>G (p.Ile700Ser)
c.1565T>G (p.Ile522Ser)
c.1646T>G (p.Ile549Ser)
c.2084T>G (p.Ile695Ser)
n.2254T>G
c.1217T>G (p.Ile406Ser)
n.2126T>G
14g.88610926T>ACA487280460ZC3H14c.2190T>A (p.Ile730=)
c.*1398T>A (n.*1398T>A)
c.1719T>A (p.Ile573=)
c.900T>A (p.Ile300=)
c.1695T>A (p.Ile565=)
c.2115T>A (p.Ile705=)
c.828T>A (p.Ile276=)
n.1033T>A
c.2172T>A (p.Ile724=)
c.435T>A (p.Ile145=)
n.349T>A
c.1296T>A (p.Ile432=)
c.1934T>A
c.1797T>A (p.Ile599=)
n.1475T>A
c.1242T>A (p.Ile414=)
c.2187T>A (p.Ile729=)
c.2175T>A (p.Ile725=)
c.1794T>A (p.Ile598=)
c.1722T>A (p.Ile574=)
c.1221T>A (p.Ile407=)
c.2088T>A (p.Ile696=)
c.2034T>A (p.Ile678=)
c.2112T>A (p.Ile704=)
c.2097T>A (p.Ile699=)
c.1725T>A (p.Ile575=)
c.2013T>A (p.Ile671=)
c.1617T>A (p.Ile539=)
c.1329T>A (p.Ile443=)
c.1650T>A (p.Ile550=)
c.1563T>A (p.Ile521=)
c.1332T>A (p.Ile444=)
c.1257T>A (p.Ile419=)
c.1254T>A (p.Ile418=)
c.2100T>A (p.Ile700=)
c.1566T>A (p.Ile522=)
c.1647T>A (p.Ile549=)
c.2085T>A (p.Ile695=)
n.2255T>A
c.1218T>A (p.Ile406=)
n.2127T>A
14g.88610926T>CCA264514049ZC3H14c.2190T>C (p.Ile730=)
c.*1398T>C (n.*1398T>C)
c.1719T>C (p.Ile573=)
c.900T>C (p.Ile300=)
c.1695T>C (p.Ile565=)
c.2115T>C (p.Ile705=)
c.828T>C (p.Ile276=)
n.1033T>C
c.2172T>C (p.Ile724=)
c.435T>C (p.Ile145=)
n.349T>C
c.1296T>C (p.Ile432=)
c.1934T>C
c.1797T>C (p.Ile599=)
n.1475T>C
c.1242T>C (p.Ile414=)
c.2187T>C (p.Ile729=)
c.2175T>C (p.Ile725=)
c.1794T>C (p.Ile598=)
c.1722T>C (p.Ile574=)
c.1221T>C (p.Ile407=)
c.2088T>C (p.Ile696=)
c.2034T>C (p.Ile678=)
c.2112T>C (p.Ile704=)
c.2097T>C (p.Ile699=)
c.1725T>C (p.Ile575=)
c.2013T>C (p.Ile671=)
c.1617T>C (p.Ile539=)
c.1329T>C (p.Ile443=)
c.1650T>C (p.Ile550=)
c.1563T>C (p.Ile521=)
c.1332T>C (p.Ile444=)
c.1257T>C (p.Ile419=)
c.1254T>C (p.Ile418=)
c.2100T>C (p.Ile700=)
c.1566T>C (p.Ile522=)
c.1647T>C (p.Ile549=)
c.2085T>C (p.Ile695=)
n.2255T>C
c.1218T>C (p.Ile406=)
n.2127T>C
 dbSNP
14g.88610926T>GCA390566402ZC3H14c.2190T>G (p.Ile730Met)
c.*1398T>G (n.*1398T>G)
c.1719T>G (p.Ile573Met)
c.900T>G (p.Ile300Met)
c.1695T>G (p.Ile565Met)
c.2115T>G (p.Ile705Met)
c.828T>G (p.Ile276Met)
n.1033T>G
c.2172T>G (p.Ile724Met)
c.435T>G (p.Ile145Met)
n.349T>G
c.1296T>G (p.Ile432Met)
c.1934T>G
c.1797T>G (p.Ile599Met)
n.1475T>G
c.1242T>G (p.Ile414Met)
c.2187T>G (p.Ile729Met)
c.2175T>G (p.Ile725Met)
c.1794T>G (p.Ile598Met)
c.1722T>G (p.Ile574Met)
c.1221T>G (p.Ile407Met)
c.2088T>G (p.Ile696Met)
c.2034T>G (p.Ile678Met)
c.2112T>G (p.Ile704Met)
c.2097T>G (p.Ile699Met)
c.1725T>G (p.Ile575Met)
c.2013T>G (p.Ile671Met)
c.1617T>G (p.Ile539Met)
c.1329T>G (p.Ile443Met)
c.1650T>G (p.Ile550Met)
c.1563T>G (p.Ile521Met)
c.1332T>G (p.Ile444Met)
c.1257T>G (p.Ile419Met)
c.1254T>G (p.Ile418Met)
c.2100T>G (p.Ile700Met)
c.1566T>G (p.Ile522Met)
c.1647T>G (p.Ile549Met)
c.2085T>G (p.Ile695Met)
n.2255T>G
c.1218T>G (p.Ile406Met)
n.2127T>G
14g.88610926T=CA2153694415ZC3H14c.2190T= (p.Ile730=)
c.*1398T= (n.*1398T=)
c.1719T= (p.Ile573=)
c.900T= (p.Ile300=)
c.1695T= (p.Ile565=)
c.2115T= (p.Ile705=)
c.828T= (p.Ile276=)
n.1033T=
c.2172T= (p.Ile724=)
c.435T= (p.Ile145=)
n.349T=
c.1296T= (p.Ile432=)
c.1934T=
c.1797T= (p.Ile599=)
n.1475T=
c.1242T= (p.Ile414=)
c.2187T= (p.Ile729=)
c.2175T= (p.Ile725=)
c.1794T= (p.Ile598=)
c.1722T= (p.Ile574=)
c.1221T= (p.Ile407=)
c.2088T= (p.Ile696=)
c.2034T= (p.Ile678=)
c.2112T= (p.Ile704=)
c.2097T= (p.Ile699=)
c.1725T= (p.Ile575=)
c.2013T= (p.Ile671=)
c.1617T= (p.Ile539=)
c.1329T= (p.Ile443=)
c.1650T= (p.Ile550=)
c.1563T= (p.Ile521=)
c.1332T= (p.Ile444=)
c.1257T= (p.Ile419=)
c.1254T= (p.Ile418=)
c.2100T= (p.Ile700=)
c.1566T= (p.Ile522=)
c.1647T= (p.Ile549=)
c.2085T= (p.Ile695=)
n.2255T=
c.1218T= (p.Ile406=)
n.2127T=
14g.88610927C>ACA487280461ZC3H14c.2191C>A (p.Arg731=)
c.*1399C>A (n.*1399C>A)
c.1720C>A (p.Arg574=)
c.901C>A (p.Arg301=)
c.1696C>A (p.Arg566=)
c.2116C>A (p.Arg706=)
c.829C>A (p.Arg277=)
n.1034C>A
c.2173C>A (p.Arg725=)
c.436C>A (p.Arg146=)
n.350C>A
c.1297C>A (p.Arg433=)
c.1935C>A
c.1798C>A (p.Arg600=)
n.1476C>A
c.1243C>A (p.Arg415=)
c.2188C>A (p.Arg730=)
c.2176C>A (p.Arg726=)
c.1795C>A (p.Arg599=)
c.1723C>A (p.Arg575=)
c.1222C>A (p.Arg408=)
c.2089C>A (p.Arg697=)
c.2035C>A (p.Arg679=)
c.2113C>A (p.Arg705=)
c.2098C>A (p.Arg700=)
c.1726C>A (p.Arg576=)
c.2014C>A (p.Arg672=)
c.1618C>A (p.Arg540=)
c.1330C>A (p.Arg444=)
c.1651C>A (p.Arg551=)
c.1564C>A (p.Arg522=)
c.1333C>A (p.Arg445=)
c.1258C>A (p.Arg420=)
c.1255C>A (p.Arg419=)
c.2101C>A (p.Arg701=)
c.1567C>A (p.Arg523=)
c.1648C>A (p.Arg550=)
c.2086C>A (p.Arg696=)
n.2256C>A
c.1219C>A (p.Arg407=)
n.2128C>A
14g.88610927C=CA2153694416ZC3H14c.2191C= (p.Arg731=)
c.*1399C= (n.*1399C=)
c.1720C= (p.Arg574=)
c.901C= (p.Arg301=)
c.1696C= (p.Arg566=)
c.2116C= (p.Arg706=)
c.829C= (p.Arg277=)
n.1034C=
c.2173C= (p.Arg725=)
c.436C= (p.Arg146=)
n.350C=
c.1297C= (p.Arg433=)
c.1935C=
c.1798C= (p.Arg600=)
n.1476C=
c.1243C= (p.Arg415=)
c.2188C= (p.Arg730=)
c.2176C= (p.Arg726=)
c.1795C= (p.Arg599=)
c.1723C= (p.Arg575=)
c.1222C= (p.Arg408=)
c.2089C= (p.Arg697=)
c.2035C= (p.Arg679=)
c.2113C= (p.Arg705=)
c.2098C= (p.Arg700=)
c.1726C= (p.Arg576=)
c.2014C= (p.Arg672=)
c.1618C= (p.Arg540=)
c.1330C= (p.Arg444=)
c.1651C= (p.Arg551=)
c.1564C= (p.Arg522=)
c.1333C= (p.Arg445=)
c.1258C= (p.Arg420=)
c.1255C= (p.Arg419=)
c.2101C= (p.Arg701=)
c.1567C= (p.Arg523=)
c.1648C= (p.Arg550=)
c.2086C= (p.Arg696=)
n.2256C=
c.1219C= (p.Arg407=)
n.2128C=
14g.88610927C>GCA390566405ZC3H14c.2191C>G (p.Arg731Gly)
c.*1399C>G (n.*1399C>G)
c.1720C>G (p.Arg574Gly)
c.901C>G (p.Arg301Gly)
c.1696C>G (p.Arg566Gly)
c.2116C>G (p.Arg706Gly)
c.829C>G (p.Arg277Gly)
n.1034C>G
c.2173C>G (p.Arg725Gly)
c.436C>G (p.Arg146Gly)
n.350C>G
c.1297C>G (p.Arg433Gly)
c.1935C>G
c.1798C>G (p.Arg600Gly)
n.1476C>G
c.1243C>G (p.Arg415Gly)
c.2188C>G (p.Arg730Gly)
c.2176C>G (p.Arg726Gly)
c.1795C>G (p.Arg599Gly)
c.1723C>G (p.Arg575Gly)
c.1222C>G (p.Arg408Gly)
c.2089C>G (p.Arg697Gly)
c.2035C>G (p.Arg679Gly)
c.2113C>G (p.Arg705Gly)
c.2098C>G (p.Arg700Gly)
c.1726C>G (p.Arg576Gly)
c.2014C>G (p.Arg672Gly)
c.1618C>G (p.Arg540Gly)
c.1330C>G (p.Arg444Gly)
c.1651C>G (p.Arg551Gly)
c.1564C>G (p.Arg522Gly)
c.1333C>G (p.Arg445Gly)
c.1258C>G (p.Arg420Gly)
c.1255C>G (p.Arg419Gly)
c.2101C>G (p.Arg701Gly)
c.1567C>G (p.Arg523Gly)
c.1648C>G (p.Arg550Gly)
c.2086C>G (p.Arg696Gly)
n.2256C>G
c.1219C>G (p.Arg407Gly)
n.2128C>G
14g.88610927C>TCA390566410ZC3H14c.2191C>T (p.Arg731Ter)
c.*1399C>T (n.*1399C>T)
c.1720C>T (p.Arg574Ter)
c.901C>T (p.Arg301Ter)
c.1696C>T (p.Arg566Ter)
c.2116C>T (p.Arg706Ter)
c.829C>T (p.Arg277Ter)
n.1034C>T
c.2173C>T (p.Arg725Ter)
c.436C>T (p.Arg146Ter)
n.350C>T
c.1297C>T (p.Arg433Ter)
c.1935C>T
c.1798C>T (p.Arg600Ter)
n.1476C>T
c.1243C>T (p.Arg415Ter)
c.2188C>T (p.Arg730Ter)
c.2176C>T (p.Arg726Ter)
c.1795C>T (p.Arg599Ter)
c.1723C>T (p.Arg575Ter)
c.1222C>T (p.Arg408Ter)
c.2089C>T (p.Arg697Ter)
c.2035C>T (p.Arg679Ter)
c.2113C>T (p.Arg705Ter)
c.2098C>T (p.Arg700Ter)
c.1726C>T (p.Arg576Ter)
c.2014C>T (p.Arg672Ter)
c.1618C>T (p.Arg540Ter)
c.1330C>T (p.Arg444Ter)
c.1651C>T (p.Arg551Ter)
c.1564C>T (p.Arg522Ter)
c.1333C>T (p.Arg445Ter)
c.1258C>T (p.Arg420Ter)
c.1255C>T (p.Arg419Ter)
c.2101C>T (p.Arg701Ter)
c.1567C>T (p.Arg523Ter)
c.1648C>T (p.Arg550Ter)
c.2086C>T (p.Arg696Ter)
n.2256C>T
c.1219C>T (p.Arg407Ter)
n.2128C>T
 dbSNP COSMIC COSMIC
14g.88610928G>ACA7300786ZC3H14c.2192G>A (p.Arg731Gln)
c.*1400G>A (n.*1400G>A)
c.1721G>A (p.Arg574Gln)
c.902G>A (p.Arg301Gln)
c.1697G>A (p.Arg566Gln)
c.2117G>A (p.Arg706Gln)
c.830G>A (p.Arg277Gln)
n.1035G>A
c.2174G>A (p.Arg725Gln)
c.437G>A (p.Arg146Gln)
n.351G>A
c.1298G>A (p.Arg433Gln)
c.1936G>A
c.1799G>A (p.Arg600Gln)
n.1477G>A
c.1244G>A (p.Arg415Gln)
c.2189G>A (p.Arg730Gln)
c.2177G>A (p.Arg726Gln)
c.1796G>A (p.Arg599Gln)
c.1724G>A (p.Arg575Gln)
c.1223G>A (p.Arg408Gln)
c.2090G>A (p.Arg697Gln)
c.2036G>A (p.Arg679Gln)
c.2114G>A (p.Arg705Gln)
c.2099G>A (p.Arg700Gln)
c.1727G>A (p.Arg576Gln)
c.2015G>A (p.Arg672Gln)
c.1619G>A (p.Arg540Gln)
c.1331G>A (p.Arg444Gln)
c.1652G>A (p.Arg551Gln)
c.1565G>A (p.Arg522Gln)
c.1334G>A (p.Arg445Gln)
c.1259G>A (p.Arg420Gln)
c.1256G>A (p.Arg419Gln)
c.2102G>A (p.Arg701Gln)
c.1568G>A (p.Arg523Gln)
c.1649G>A (p.Arg550Gln)
c.2087G>A (p.Arg696Gln)
n.2257G>A
c.1220G>A (p.Arg407Gln)
n.2129G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
14g.88610928G>CCA390566416ZC3H14c.2192G>C (p.Arg731Pro)
c.*1400G>C (n.*1400G>C)
c.1721G>C (p.Arg574Pro)
c.902G>C (p.Arg301Pro)
c.1697G>C (p.Arg566Pro)
c.2117G>C (p.Arg706Pro)
c.830G>C (p.Arg277Pro)
n.1035G>C
c.2174G>C (p.Arg725Pro)
c.437G>C (p.Arg146Pro)
n.351G>C
c.1298G>C (p.Arg433Pro)
c.1936G>C
c.1799G>C (p.Arg600Pro)
n.1477G>C
c.1244G>C (p.Arg415Pro)
c.2189G>C (p.Arg730Pro)
c.2177G>C (p.Arg726Pro)
c.1796G>C (p.Arg599Pro)
c.1724G>C (p.Arg575Pro)
c.1223G>C (p.Arg408Pro)
c.2090G>C (p.Arg697Pro)
c.2036G>C (p.Arg679Pro)
c.2114G>C (p.Arg705Pro)
c.2099G>C (p.Arg700Pro)
c.1727G>C (p.Arg576Pro)
c.2015G>C (p.Arg672Pro)
c.1619G>C (p.Arg540Pro)
c.1331G>C (p.Arg444Pro)
c.1652G>C (p.Arg551Pro)
c.1565G>C (p.Arg522Pro)
c.1334G>C (p.Arg445Pro)
c.1259G>C (p.Arg420Pro)
c.1256G>C (p.Arg419Pro)
c.2102G>C (p.Arg701Pro)
c.1568G>C (p.Arg523Pro)
c.1649G>C (p.Arg550Pro)
c.2087G>C (p.Arg696Pro)
n.2257G>C
c.1220G>C (p.Arg407Pro)
n.2129G>C
14g.88610928G=CA2153694417ZC3H14c.2192G= (p.Arg731=)
c.*1400G= (n.*1400G=)
c.1721G= (p.Arg574=)
c.902G= (p.Arg301=)
c.1697G= (p.Arg566=)
c.2117G= (p.Arg706=)
c.830G= (p.Arg277=)
n.1035G=
c.2174G= (p.Arg725=)
c.437G= (p.Arg146=)
n.351G=
c.1298G= (p.Arg433=)
c.1936G=
c.1799G= (p.Arg600=)
n.1477G=
c.1244G= (p.Arg415=)
c.2189G= (p.Arg730=)
c.2177G= (p.Arg726=)
c.1796G= (p.Arg599=)
c.1724G= (p.Arg575=)
c.1223G= (p.Arg408=)
c.2090G= (p.Arg697=)
c.2036G= (p.Arg679=)
c.2114G= (p.Arg705=)
c.2099G= (p.Arg700=)
c.1727G= (p.Arg576=)
c.2015G= (p.Arg672=)
c.1619G= (p.Arg540=)
c.1331G= (p.Arg444=)
c.1652G= (p.Arg551=)
c.1565G= (p.Arg522=)
c.1334G= (p.Arg445=)
c.1259G= (p.Arg420=)
c.1256G= (p.Arg419=)
c.2102G= (p.Arg701=)
c.1568G= (p.Arg523=)
c.1649G= (p.Arg550=)
c.2087G= (p.Arg696=)
n.2257G=
c.1220G= (p.Arg407=)
n.2129G=
14g.88610928G>TCA390566420ZC3H14c.2192G>T (p.Arg731Leu)
c.*1400G>T (n.*1400G>T)
c.1721G>T (p.Arg574Leu)
c.902G>T (p.Arg301Leu)
c.1697G>T (p.Arg566Leu)
c.2117G>T (p.Arg706Leu)
c.830G>T (p.Arg277Leu)
n.1035G>T
c.2174G>T (p.Arg725Leu)
c.437G>T (p.Arg146Leu)
n.351G>T
c.1298G>T (p.Arg433Leu)
c.1936G>T
c.1799G>T (p.Arg600Leu)
n.1477G>T
c.1244G>T (p.Arg415Leu)
c.2189G>T (p.Arg730Leu)
c.2177G>T (p.Arg726Leu)
c.1796G>T (p.Arg599Leu)
c.1724G>T (p.Arg575Leu)
c.1223G>T (p.Arg408Leu)
c.2090G>T (p.Arg697Leu)
c.2036G>T (p.Arg679Leu)
c.2114G>T (p.Arg705Leu)
c.2099G>T (p.Arg700Leu)
c.1727G>T (p.Arg576Leu)
c.2015G>T (p.Arg672Leu)
c.1619G>T (p.Arg540Leu)
c.1331G>T (p.Arg444Leu)
c.1652G>T (p.Arg551Leu)
c.1565G>T (p.Arg522Leu)
c.1334G>T (p.Arg445Leu)
c.1259G>T (p.Arg420Leu)
c.1256G>T (p.Arg419Leu)
c.2102G>T (p.Arg701Leu)
c.1568G>T (p.Arg523Leu)
c.1649G>T (p.Arg550Leu)
c.2087G>T (p.Arg696Leu)
n.2257G>T
c.1220G>T (p.Arg407Leu)
n.2129G>T
14g.88610929A>CCA487280462ZC3H14c.2193A>C (p.Arg731=)
c.*1401A>C (n.*1401A>C)
c.1722A>C (p.Arg574=)
c.903A>C (p.Arg301=)
c.1698A>C (p.Arg566=)
c.2118A>C (p.Arg706=)
c.831A>C (p.Arg277=)
n.1036A>C
c.2175A>C (p.Arg725=)
c.438A>C (p.Arg146=)
n.352A>C
c.1299A>C (p.Arg433=)
c.1937A>C
c.1800A>C (p.Arg600=)
n.1478A>C
c.1245A>C (p.Arg415=)
c.2190A>C (p.Arg730=)
c.2178A>C (p.Arg726=)
c.1797A>C (p.Arg599=)
c.1725A>C (p.Arg575=)
c.1224A>C (p.Arg408=)
c.2091A>C (p.Arg697=)
c.2037A>C (p.Arg679=)
c.2115A>C (p.Arg705=)
c.2100A>C (p.Arg700=)
c.1728A>C (p.Arg576=)
c.2016A>C (p.Arg672=)
c.1620A>C (p.Arg540=)
c.1332A>C (p.Arg444=)
c.1653A>C (p.Arg551=)
c.1566A>C (p.Arg522=)
c.1335A>C (p.Arg445=)
c.1260A>C (p.Arg420=)
c.1257A>C (p.Arg419=)
c.2103A>C (p.Arg701=)
c.1569A>C (p.Arg523=)
c.1650A>C (p.Arg550=)
c.2088A>C (p.Arg696=)
n.2258A>C
c.1221A>C (p.Arg407=)
n.2130A>C
14g.88610929A>GCA487280463ZC3H14c.2193A>G (p.Arg731=)
c.*1401A>G (n.*1401A>G)
c.1722A>G (p.Arg574=)
c.903A>G (p.Arg301=)
c.1698A>G (p.Arg566=)
c.2118A>G (p.Arg706=)
c.831A>G (p.Arg277=)
n.1036A>G
c.2175A>G (p.Arg725=)
c.438A>G (p.Arg146=)
n.352A>G
c.1299A>G (p.Arg433=)
c.1937A>G
c.1800A>G (p.Arg600=)
n.1478A>G
c.1245A>G (p.Arg415=)
c.2190A>G (p.Arg730=)
c.2178A>G (p.Arg726=)
c.1797A>G (p.Arg599=)
c.1725A>G (p.Arg575=)
c.1224A>G (p.Arg408=)
c.2091A>G (p.Arg697=)
c.2037A>G (p.Arg679=)
c.2115A>G (p.Arg705=)
c.2100A>G (p.Arg700=)
c.1728A>G (p.Arg576=)
c.2016A>G (p.Arg672=)
c.1620A>G (p.Arg540=)
c.1332A>G (p.Arg444=)
c.1653A>G (p.Arg551=)
c.1566A>G (p.Arg522=)
c.1335A>G (p.Arg445=)
c.1260A>G (p.Arg420=)
c.1257A>G (p.Arg419=)
c.2103A>G (p.Arg701=)
c.1569A>G (p.Arg523=)
c.1650A>G (p.Arg550=)
c.2088A>G (p.Arg696=)
n.2258A>G
c.1221A>G (p.Arg407=)
n.2130A>G
14g.88610929A>TCA487280464ZC3H14c.2193A>T (p.Arg731=)
c.*1401A>T (n.*1401A>T)
c.1722A>T (p.Arg574=)
c.903A>T (p.Arg301=)
c.1698A>T (p.Arg566=)
c.2118A>T (p.Arg706=)
c.831A>T (p.Arg277=)
n.1036A>T
c.2175A>T (p.Arg725=)
c.438A>T (p.Arg146=)
n.352A>T
c.1299A>T (p.Arg433=)
c.1937A>T
c.1800A>T (p.Arg600=)
n.1478A>T
c.1245A>T (p.Arg415=)
c.2190A>T (p.Arg730=)
c.2178A>T (p.Arg726=)
c.1797A>T (p.Arg599=)
c.1725A>T (p.Arg575=)
c.1224A>T (p.Arg408=)
c.2091A>T (p.Arg697=)
c.2037A>T (p.Arg679=)
c.2115A>T (p.Arg705=)
c.2100A>T (p.Arg700=)
c.1728A>T (p.Arg576=)
c.2016A>T (p.Arg672=)
c.1620A>T (p.Arg540=)
c.1332A>T (p.Arg444=)
c.1653A>T (p.Arg551=)
c.1566A>T (p.Arg522=)
c.1335A>T (p.Arg445=)
c.1260A>T (p.Arg420=)
c.1257A>T (p.Arg419=)
c.2103A>T (p.Arg701=)
c.1569A>T (p.Arg523=)
c.1650A>T (p.Arg550=)
c.2088A>T (p.Arg696=)
n.2258A>T
c.1221A>T (p.Arg407=)
n.2130A>T
14g.88610930C>ACA390566424ZC3H14c.2194C>A (p.Pro732Thr)
c.*1402C>A (n.*1402C>A)
c.1723C>A (p.Pro575Thr)
c.904C>A (p.Pro302Thr)
c.1699C>A (p.Pro567Thr)
c.2119C>A (p.Pro707Thr)
c.832C>A (p.Pro278Thr)
n.1037C>A
c.2176C>A (p.Pro726Thr)
c.439C>A (p.Pro147Thr)
n.353C>A
c.1300C>A (p.Pro434Thr)
c.1938C>A
c.1801C>A (p.Pro601Thr)
n.1479C>A
c.1246C>A (p.Pro416Thr)
c.2191C>A (p.Pro731Thr)
c.2179C>A (p.Pro727Thr)
c.1798C>A (p.Pro600Thr)
c.1726C>A (p.Pro576Thr)
c.1225C>A (p.Pro409Thr)
c.2092C>A (p.Pro698Thr)
c.2038C>A (p.Pro680Thr)
c.2116C>A (p.Pro706Thr)
c.2101C>A (p.Pro701Thr)
c.1729C>A (p.Pro577Thr)
c.2017C>A (p.Pro673Thr)
c.1621C>A (p.Pro541Thr)
c.1333C>A (p.Pro445Thr)
c.1654C>A (p.Pro552Thr)
c.1567C>A (p.Pro523Thr)
c.1336C>A (p.Pro446Thr)
c.1261C>A (p.Pro421Thr)
c.1258C>A (p.Pro420Thr)
c.2104C>A (p.Pro702Thr)
c.1570C>A (p.Pro524Thr)
c.1651C>A (p.Pro551Thr)
c.2089C>A (p.Pro697Thr)
n.2259C>A
c.1222C>A (p.Pro408Thr)
n.2131C>A
14g.88610930C>GCA390566430ZC3H14c.2194C>G (p.Pro732Ala)
c.*1402C>G (n.*1402C>G)
c.1723C>G (p.Pro575Ala)
c.904C>G (p.Pro302Ala)
c.1699C>G (p.Pro567Ala)
c.2119C>G (p.Pro707Ala)
c.832C>G (p.Pro278Ala)
n.1037C>G
c.2176C>G (p.Pro726Ala)
c.439C>G (p.Pro147Ala)
n.353C>G
c.1300C>G (p.Pro434Ala)
c.1938C>G
c.1801C>G (p.Pro601Ala)
n.1479C>G
c.1246C>G (p.Pro416Ala)
c.2191C>G (p.Pro731Ala)
c.2179C>G (p.Pro727Ala)
c.1798C>G (p.Pro600Ala)
c.1726C>G (p.Pro576Ala)
c.1225C>G (p.Pro409Ala)
c.2092C>G (p.Pro698Ala)
c.2038C>G (p.Pro680Ala)
c.2116C>G (p.Pro706Ala)
c.2101C>G (p.Pro701Ala)
c.1729C>G (p.Pro577Ala)
c.2017C>G (p.Pro673Ala)
c.1621C>G (p.Pro541Ala)
c.1333C>G (p.Pro445Ala)
c.1654C>G (p.Pro552Ala)
c.1567C>G (p.Pro523Ala)
c.1336C>G (p.Pro446Ala)
c.1261C>G (p.Pro421Ala)
c.1258C>G (p.Pro420Ala)
c.2104C>G (p.Pro702Ala)
c.1570C>G (p.Pro524Ala)
c.1651C>G (p.Pro551Ala)
c.2089C>G (p.Pro697Ala)
n.2259C>G
c.1222C>G (p.Pro408Ala)
n.2131C>G
14g.88610930C>TCA390566433ZC3H14c.2194C>T (p.Pro732Ser)
c.*1402C>T (n.*1402C>T)
c.1723C>T (p.Pro575Ser)
c.904C>T (p.Pro302Ser)
c.1699C>T (p.Pro567Ser)
c.2119C>T (p.Pro707Ser)
c.832C>T (p.Pro278Ser)
n.1037C>T
c.2176C>T (p.Pro726Ser)
c.439C>T (p.Pro147Ser)
n.353C>T
c.1300C>T (p.Pro434Ser)
c.1938C>T
c.1801C>T (p.Pro601Ser)
n.1479C>T
c.1246C>T (p.Pro416Ser)
c.2191C>T (p.Pro731Ser)
c.2179C>T (p.Pro727Ser)
c.1798C>T (p.Pro600Ser)
c.1726C>T (p.Pro576Ser)
c.1225C>T (p.Pro409Ser)
c.2092C>T (p.Pro698Ser)
c.2038C>T (p.Pro680Ser)
c.2116C>T (p.Pro706Ser)
c.2101C>T (p.Pro701Ser)
c.1729C>T (p.Pro577Ser)
c.2017C>T (p.Pro673Ser)
c.1621C>T (p.Pro541Ser)
c.1333C>T (p.Pro445Ser)
c.1654C>T (p.Pro552Ser)
c.1567C>T (p.Pro523Ser)
c.1336C>T (p.Pro446Ser)
c.1261C>T (p.Pro421Ser)
c.1258C>T (p.Pro420Ser)
c.2104C>T (p.Pro702Ser)
c.1570C>T (p.Pro524Ser)
c.1651C>T (p.Pro551Ser)
c.2089C>T (p.Pro697Ser)
n.2259C>T
c.1222C>T (p.Pro408Ser)
n.2131C>T
14g.88610931C>ACA390566441ZC3H14c.2195C>A (p.Pro732His)
c.*1403C>A (n.*1403C>A)
c.1724C>A (p.Pro575His)
c.905C>A (p.Pro302His)
c.1700C>A (p.Pro567His)
c.2120C>A (p.Pro707His)
c.833C>A (p.Pro278His)
n.1038C>A
c.2177C>A (p.Pro726His)
c.440C>A (p.Pro147His)
n.354C>A
c.1301C>A (p.Pro434His)
c.1939C>A
c.1802C>A (p.Pro601His)
n.1480C>A
c.1247C>A (p.Pro416His)
c.2192C>A (p.Pro731His)
c.2180C>A (p.Pro727His)
c.1799C>A (p.Pro600His)
c.1727C>A (p.Pro576His)
c.1226C>A (p.Pro409His)
c.2093C>A (p.Pro698His)
c.2039C>A (p.Pro680His)
c.2117C>A (p.Pro706His)
c.2102C>A (p.Pro701His)
c.1730C>A (p.Pro577His)
c.2018C>A (p.Pro673His)
c.1622C>A (p.Pro541His)
c.1334C>A (p.Pro445His)
c.1655C>A (p.Pro552His)
c.1568C>A (p.Pro523His)
c.1337C>A (p.Pro446His)
c.1262C>A (p.Pro421His)
c.1259C>A (p.Pro420His)
c.2105C>A (p.Pro702His)
c.1571C>A (p.Pro524His)
c.1652C>A (p.Pro551His)
c.2090C>A (p.Pro697His)
n.2260C>A
c.1223C>A (p.Pro408His)
n.2132C>A
14g.88610931C=CA2153694418ZC3H14c.2195C= (p.Pro732=)
c.*1403C= (n.*1403C=)
c.1724C= (p.Pro575=)
c.905C= (p.Pro302=)
c.1700C= (p.Pro567=)
c.2120C= (p.Pro707=)
c.833C= (p.Pro278=)
n.1038C=
c.2177C= (p.Pro726=)
c.440C= (p.Pro147=)
n.354C=
c.1301C= (p.Pro434=)
c.1939C=
c.1802C= (p.Pro601=)
n.1480C=
c.1247C= (p.Pro416=)
c.2192C= (p.Pro731=)
c.2180C= (p.Pro727=)
c.1799C= (p.Pro600=)
c.1727C= (p.Pro576=)
c.1226C= (p.Pro409=)
c.2093C= (p.Pro698=)
c.2039C= (p.Pro680=)
c.2117C= (p.Pro706=)
c.2102C= (p.Pro701=)
c.1730C= (p.Pro577=)
c.2018C= (p.Pro673=)
c.1622C= (p.Pro541=)
c.1334C= (p.Pro445=)
c.1655C= (p.Pro552=)
c.1568C= (p.Pro523=)
c.1337C= (p.Pro446=)
c.1262C= (p.Pro421=)
c.1259C= (p.Pro420=)
c.2105C= (p.Pro702=)
c.1571C= (p.Pro524=)
c.1652C= (p.Pro551=)
c.2090C= (p.Pro697=)
n.2260C=
c.1223C= (p.Pro408=)
n.2132C=
14g.88610931C>GCA390566447ZC3H14c.2195C>G (p.Pro732Arg)
c.*1403C>G (n.*1403C>G)
c.1724C>G (p.Pro575Arg)
c.905C>G (p.Pro302Arg)
c.1700C>G (p.Pro567Arg)
c.2120C>G (p.Pro707Arg)
c.833C>G (p.Pro278Arg)
n.1038C>G
c.2177C>G (p.Pro726Arg)
c.440C>G (p.Pro147Arg)
n.354C>G
c.1301C>G (p.Pro434Arg)
c.1939C>G
c.1802C>G (p.Pro601Arg)
n.1480C>G
c.1247C>G (p.Pro416Arg)
c.2192C>G (p.Pro731Arg)
c.2180C>G (p.Pro727Arg)
c.1799C>G (p.Pro600Arg)
c.1727C>G (p.Pro576Arg)
c.1226C>G (p.Pro409Arg)
c.2093C>G (p.Pro698Arg)
c.2039C>G (p.Pro680Arg)
c.2117C>G (p.Pro706Arg)
c.2102C>G (p.Pro701Arg)
c.1730C>G (p.Pro577Arg)
c.2018C>G (p.Pro673Arg)
c.1622C>G (p.Pro541Arg)
c.1334C>G (p.Pro445Arg)
c.1655C>G (p.Pro552Arg)
c.1568C>G (p.Pro523Arg)
c.1337C>G (p.Pro446Arg)
c.1262C>G (p.Pro421Arg)
c.1259C>G (p.Pro420Arg)
c.2105C>G (p.Pro702Arg)
c.1571C>G (p.Pro524Arg)
c.1652C>G (p.Pro551Arg)
c.2090C>G (p.Pro697Arg)
n.2260C>G
c.1223C>G (p.Pro408Arg)
n.2132C>G
14g.88610931C>TCA7300787ZC3H14c.2195C>T (p.Pro732Leu)
c.*1403C>T (n.*1403C>T)
c.1724C>T (p.Pro575Leu)
c.905C>T (p.Pro302Leu)
c.1700C>T (p.Pro567Leu)
c.2120C>T (p.Pro707Leu)
c.833C>T (p.Pro278Leu)
n.1038C>T
c.2177C>T (p.Pro726Leu)
c.440C>T (p.Pro147Leu)
n.354C>T
c.1301C>T (p.Pro434Leu)
c.1939C>T
c.1802C>T (p.Pro601Leu)
n.1480C>T
c.1247C>T (p.Pro416Leu)
c.2192C>T (p.Pro731Leu)
c.2180C>T (p.Pro727Leu)
c.1799C>T (p.Pro600Leu)
c.1727C>T (p.Pro576Leu)
c.1226C>T (p.Pro409Leu)
c.2093C>T (p.Pro698Leu)
c.2039C>T (p.Pro680Leu)
c.2117C>T (p.Pro706Leu)
c.2102C>T (p.Pro701Leu)
c.1730C>T (p.Pro577Leu)
c.2018C>T (p.Pro673Leu)
c.1622C>T (p.Pro541Leu)
c.1334C>T (p.Pro445Leu)
c.1655C>T (p.Pro552Leu)
c.1568C>T (p.Pro523Leu)
c.1337C>T (p.Pro446Leu)
c.1262C>T (p.Pro421Leu)
c.1259C>T (p.Pro420Leu)
c.2105C>T (p.Pro702Leu)
c.1571C>T (p.Pro524Leu)
c.1652C>T (p.Pro551Leu)
c.2090C>T (p.Pro697Leu)
n.2260C>T
c.1223C>T (p.Pro408Leu)
n.2132C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.88610932T>ACA487280466ZC3H14c.2196T>A (p.Pro732=)
c.*1404T>A (n.*1404T>A)
c.1725T>A (p.Pro575=)
c.906T>A (p.Pro302=)
c.1701T>A (p.Pro567=)
c.2121T>A (p.Pro707=)
c.834T>A (p.Pro278=)
n.1039T>A
c.2178T>A (p.Pro726=)
c.441T>A (p.Pro147=)
n.355T>A
c.1302T>A (p.Pro434=)
c.1940T>A
c.1803T>A (p.Pro601=)
n.1481T>A
c.1248T>A (p.Pro416=)
c.2193T>A (p.Pro731=)
c.2181T>A (p.Pro727=)
c.1800T>A (p.Pro600=)
c.1728T>A (p.Pro576=)
c.1227T>A (p.Pro409=)
c.2094T>A (p.Pro698=)
c.2040T>A (p.Pro680=)
c.2118T>A (p.Pro706=)
c.2103T>A (p.Pro701=)
c.1731T>A (p.Pro577=)
c.2019T>A (p.Pro673=)
c.1623T>A (p.Pro541=)
c.1335T>A (p.Pro445=)
c.1656T>A (p.Pro552=)
c.1569T>A (p.Pro523=)
c.1338T>A (p.Pro446=)
c.1263T>A (p.Pro421=)
c.1260T>A (p.Pro420=)
c.2106T>A (p.Pro702=)
c.1572T>A (p.Pro524=)
c.1653T>A (p.Pro551=)
c.2091T>A (p.Pro697=)
n.2261T>A
c.1224T>A (p.Pro408=)
n.2133T>A
14g.88610932T>CCA487280467ZC3H14c.2196T>C (p.Pro732=)
c.*1404T>C (n.*1404T>C)
c.1725T>C (p.Pro575=)
c.906T>C (p.Pro302=)
c.1701T>C (p.Pro567=)
c.2121T>C (p.Pro707=)
c.834T>C (p.Pro278=)
n.1039T>C
c.2178T>C (p.Pro726=)
c.441T>C (p.Pro147=)
n.355T>C
c.1302T>C (p.Pro434=)
c.1940T>C
c.1803T>C (p.Pro601=)
n.1481T>C
c.1248T>C (p.Pro416=)
c.2193T>C (p.Pro731=)
c.2181T>C (p.Pro727=)
c.1800T>C (p.Pro600=)
c.1728T>C (p.Pro576=)
c.1227T>C (p.Pro409=)
c.2094T>C (p.Pro698=)
c.2040T>C (p.Pro680=)
c.2118T>C (p.Pro706=)
c.2103T>C (p.Pro701=)
c.1731T>C (p.Pro577=)
c.2019T>C (p.Pro673=)
c.1623T>C (p.Pro541=)
c.1335T>C (p.Pro445=)
c.1656T>C (p.Pro552=)
c.1569T>C (p.Pro523=)
c.1338T>C (p.Pro446=)
c.1263T>C (p.Pro421=)
c.1260T>C (p.Pro420=)
c.2106T>C (p.Pro702=)
c.1572T>C (p.Pro524=)
c.1653T>C (p.Pro551=)
c.2091T>C (p.Pro697=)
n.2261T>C
c.1224T>C (p.Pro408=)
n.2133T>C
14g.88610932T>GCA487280465ZC3H14c.2196T>G (p.Pro732=)
c.*1404T>G (n.*1404T>G)
c.1725T>G (p.Pro575=)
c.906T>G (p.Pro302=)
c.1701T>G (p.Pro567=)
c.2121T>G (p.Pro707=)
c.834T>G (p.Pro278=)
n.1039T>G
c.2178T>G (p.Pro726=)
c.441T>G (p.Pro147=)
n.355T>G
c.1302T>G (p.Pro434=)
c.1940T>G
c.1803T>G (p.Pro601=)
n.1481T>G
c.1248T>G (p.Pro416=)
c.2193T>G (p.Pro731=)
c.2181T>G (p.Pro727=)
c.1800T>G (p.Pro600=)
c.1728T>G (p.Pro576=)
c.1227T>G (p.Pro409=)
c.2094T>G (p.Pro698=)
c.2040T>G (p.Pro680=)
c.2118T>G (p.Pro706=)
c.2103T>G (p.Pro701=)
c.1731T>G (p.Pro577=)
c.2019T>G (p.Pro673=)
c.1623T>G (p.Pro541=)
c.1335T>G (p.Pro445=)
c.1656T>G (p.Pro552=)
c.1569T>G (p.Pro523=)
c.1338T>G (p.Pro446=)
c.1263T>G (p.Pro421=)
c.1260T>G (p.Pro420=)
c.2106T>G (p.Pro702=)
c.1572T>G (p.Pro524=)
c.1653T>G (p.Pro551=)
c.2091T>G (p.Pro697=)
n.2261T>G
c.1224T>G (p.Pro408=)
n.2133T>G
14g.88610932_88610933insTGTCA2575597181ZC3H14c.2196_2197insTGT (p.Pro732_Gln733insCys)
c.*1404_*1405insTGT (n.*1404_*1405insTGT)
c.1725_1726insTGT (p.Pro575_Gln576insCys)
c.906_907insTGT (p.Pro302_Gln303insCys)
c.1701_1702insTGT (p.Pro567_Gln568insCys)
c.2121_2122insTGT (p.Pro707_Gln708insCys)
c.834_835insTGT (p.Pro278_Gln279insCys)
n.1039_1040insTGT
c.2178_2179insTGT (p.Pro726_Gln727insCys)
c.441_442insTGT (p.Pro147_Gln148insCys)
n.355_356insTGT
c.1302_1303insTGT (p.Pro434_Gln435insCys)
c.1940_1941insTGT
c.1803_1804insTGT (p.Pro601_Gln602insCys)
n.1481_1482insTGT
c.1248_1249insTGT (p.Pro416_Gln417insCys)
c.2193_2194insTGT (p.Pro731_Gln732insCys)
c.2181_2182insTGT (p.Pro727_Gln728insCys)
c.1800_1801insTGT (p.Pro600_Gln601insCys)
c.1728_1729insTGT (p.Pro576_Gln577insCys)
c.1227_1228insTGT (p.Pro409_Gln410insCys)
c.2094_2095insTGT (p.Pro698_Gln699insCys)
c.2040_2041insTGT (p.Pro680_Gln681insCys)
c.2118_2119insTGT (p.Pro706_Gln707insCys)
c.2103_2104insTGT (p.Pro701_Gln702insCys)
c.1731_1732insTGT (p.Pro577_Gln578insCys)
c.2019_2020insTGT (p.Pro673_Gln674insCys)
c.1623_1624insTGT (p.Pro541_Gln542insCys)
c.1335_1336insTGT (p.Pro445_Gln446insCys)
c.1656_1657insTGT (p.Pro552_Gln553insCys)
c.1569_1570insTGT (p.Pro523_Gln524insCys)
c.1338_1339insTGT (p.Pro446_Gln447insCys)
c.1263_1264insTGT (p.Pro421_Gln422insCys)
c.1260_1261insTGT (p.Pro420_Gln421insCys)
c.2106_2107insTGT (p.Pro702_Gln703insCys)
c.1572_1573insTGT (p.Pro524_Gln525insCys)
c.1653_1654insTGT (p.Pro551_Gln552insCys)
c.2091_2092insTGT (p.Pro697_Gln698insCys)
n.2261_2262insTGT
c.1224_1225insTGT (p.Pro408_Gln409insCys)
n.2133_2134insTGT
 gnomAD v4
14g.88610933C>ACA390566451ZC3H14c.2197C>A (p.Gln733Lys)
c.*1405C>A (n.*1405C>A)
c.1726C>A (p.Gln576Lys)
c.907C>A (p.Gln303Lys)
c.1702C>A (p.Gln568Lys)
c.2122C>A (p.Gln708Lys)
c.835C>A (p.Gln279Lys)
n.1040C>A
c.2179C>A (p.Gln727Lys)
c.442C>A (p.Gln148Lys)
n.356C>A
c.1303C>A (p.Gln435Lys)
c.1941C>A
c.1804C>A (p.Gln602Lys)
n.1482C>A
c.1249C>A (p.Gln417Lys)
c.2194C>A (p.Gln732Lys)
c.2182C>A (p.Gln728Lys)
c.1801C>A (p.Gln601Lys)
c.1729C>A (p.Gln577Lys)
c.1228C>A (p.Gln410Lys)
c.2095C>A (p.Gln699Lys)
c.2041C>A (p.Gln681Lys)
c.2119C>A (p.Gln707Lys)
c.2104C>A (p.Gln702Lys)
c.1732C>A (p.Gln578Lys)
c.2020C>A (p.Gln674Lys)
c.1624C>A (p.Gln542Lys)
c.1336C>A (p.Gln446Lys)
c.1657C>A (p.Gln553Lys)
c.1570C>A (p.Gln524Lys)
c.1339C>A (p.Gln447Lys)
c.1264C>A (p.Gln422Lys)
c.1261C>A (p.Gln421Lys)
c.2107C>A (p.Gln703Lys)
c.1573C>A (p.Gln525Lys)
c.1654C>A (p.Gln552Lys)
c.2092C>A (p.Gln698Lys)
n.2262C>A
c.1225C>A (p.Gln409Lys)
n.2134C>A
14g.88610933C=CA2153694419ZC3H14c.2197C= (p.Gln733=)
c.*1405C= (n.*1405C=)
c.1726C= (p.Gln576=)
c.907C= (p.Gln303=)
c.1702C= (p.Gln568=)
c.2122C= (p.Gln708=)
c.835C= (p.Gln279=)
n.1040C=
c.2179C= (p.Gln727=)
c.442C= (p.Gln148=)
n.356C=
c.1303C= (p.Gln435=)
c.1941C=
c.1804C= (p.Gln602=)
n.1482C=
c.1249C= (p.Gln417=)
c.2194C= (p.Gln732=)
c.2182C= (p.Gln728=)
c.1801C= (p.Gln601=)
c.1729C= (p.Gln577=)
c.1228C= (p.Gln410=)
c.2095C= (p.Gln699=)
c.2041C= (p.Gln681=)
c.2119C= (p.Gln707=)
c.2104C= (p.Gln702=)
c.1732C= (p.Gln578=)
c.2020C= (p.Gln674=)
c.1624C= (p.Gln542=)
c.1336C= (p.Gln446=)
c.1657C= (p.Gln553=)
c.1570C= (p.Gln524=)
c.1339C= (p.Gln447=)
c.1264C= (p.Gln422=)
c.1261C= (p.Gln421=)
c.2107C= (p.Gln703=)
c.1573C= (p.Gln525=)
c.1654C= (p.Gln552=)
c.2092C= (p.Gln698=)
n.2262C=
c.1225C= (p.Gln409=)
n.2134C=
14g.88610933C>GCA264514063ZC3H14c.2197C>G (p.Gln733Glu)
c.*1405C>G (n.*1405C>G)
c.1726C>G (p.Gln576Glu)
c.907C>G (p.Gln303Glu)
c.1702C>G (p.Gln568Glu)
c.2122C>G (p.Gln708Glu)
c.835C>G (p.Gln279Glu)
n.1040C>G
c.2179C>G (p.Gln727Glu)
c.442C>G (p.Gln148Glu)
n.356C>G
c.1303C>G (p.Gln435Glu)
c.1941C>G
c.1804C>G (p.Gln602Glu)
n.1482C>G
c.1249C>G (p.Gln417Glu)
c.2194C>G (p.Gln732Glu)
c.2182C>G (p.Gln728Glu)
c.1801C>G (p.Gln601Glu)
c.1729C>G (p.Gln577Glu)
c.1228C>G (p.Gln410Glu)
c.2095C>G (p.Gln699Glu)
c.2041C>G (p.Gln681Glu)
c.2119C>G (p.Gln707Glu)
c.2104C>G (p.Gln702Glu)
c.1732C>G (p.Gln578Glu)
c.2020C>G (p.Gln674Glu)
c.1624C>G (p.Gln542Glu)
c.1336C>G (p.Gln446Glu)
c.1657C>G (p.Gln553Glu)
c.1570C>G (p.Gln524Glu)
c.1339C>G (p.Gln447Glu)
c.1264C>G (p.Gln422Glu)
c.1261C>G (p.Gln421Glu)
c.2107C>G (p.Gln703Glu)
c.1573C>G (p.Gln525Glu)
c.1654C>G (p.Gln552Glu)
c.2092C>G (p.Gln698Glu)
n.2262C>G
c.1225C>G (p.Gln409Glu)
n.2134C>G
 dbSNP gnomAD v2 gnomAD v4
14g.88610933C>TCA7300788ZC3H14c.2197C>T (p.Gln733Ter)
c.*1405C>T (n.*1405C>T)
c.1726C>T (p.Gln576Ter)
c.907C>T (p.Gln303Ter)
c.1702C>T (p.Gln568Ter)
c.2122C>T (p.Gln708Ter)
c.835C>T (p.Gln279Ter)
n.1040C>T
c.2179C>T (p.Gln727Ter)
c.442C>T (p.Gln148Ter)
n.356C>T
c.1303C>T (p.Gln435Ter)
c.1941C>T
c.1804C>T (p.Gln602Ter)
n.1482C>T
c.1249C>T (p.Gln417Ter)
c.2194C>T (p.Gln732Ter)
c.2182C>T (p.Gln728Ter)
c.1801C>T (p.Gln601Ter)
c.1729C>T (p.Gln577Ter)
c.1228C>T (p.Gln410Ter)
c.2095C>T (p.Gln699Ter)
c.2041C>T (p.Gln681Ter)
c.2119C>T (p.Gln707Ter)
c.2104C>T (p.Gln702Ter)
c.1732C>T (p.Gln578Ter)
c.2020C>T (p.Gln674Ter)
c.1624C>T (p.Gln542Ter)
c.1336C>T (p.Gln446Ter)
c.1657C>T (p.Gln553Ter)
c.1570C>T (p.Gln524Ter)
c.1339C>T (p.Gln447Ter)
c.1264C>T (p.Gln422Ter)
c.1261C>T (p.Gln421Ter)
c.2107C>T (p.Gln703Ter)
c.1573C>T (p.Gln525Ter)
c.1654C>T (p.Gln552Ter)
c.2092C>T (p.Gln698Ter)
n.2262C>T
c.1225C>T (p.Gln409Ter)
n.2134C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.88610934A=CA2153694420ZC3H14c.2198A= (p.Gln733=)
c.*1406A= (n.*1406A=)
c.1727A= (p.Gln576=)
c.908A= (p.Gln303=)
c.1703A= (p.Gln568=)
c.2123A= (p.Gln708=)
c.836A= (p.Gln279=)
n.1041A=
c.2180A= (p.Gln727=)
c.443A= (p.Gln148=)
n.357A=
c.1304A= (p.Gln435=)
c.1942A=
c.1805A= (p.Gln602=)
n.1483A=
c.1250A= (p.Gln417=)
c.2195A= (p.Gln732=)
c.2183A= (p.Gln728=)
c.1802A= (p.Gln601=)
c.1730A= (p.Gln577=)
c.1229A= (p.Gln410=)
c.2096A= (p.Gln699=)
c.2042A= (p.Gln681=)
c.2120A= (p.Gln707=)
c.2105A= (p.Gln702=)
c.1733A= (p.Gln578=)
c.2021A= (p.Gln674=)
c.1625A= (p.Gln542=)
c.1337A= (p.Gln446=)
c.1658A= (p.Gln553=)
c.1571A= (p.Gln524=)
c.1340A= (p.Gln447=)
c.1265A= (p.Gln422=)
c.1262A= (p.Gln421=)
c.2108A= (p.Gln703=)
c.1574A= (p.Gln525=)
c.1655A= (p.Gln552=)
c.2093A= (p.Gln698=)
n.2263A=
c.1226A= (p.Gln409=)
n.2135A=
14g.88610934A>CCA390566462ZC3H14c.2198A>C (p.Gln733Pro)
c.*1406A>C (n.*1406A>C)
c.1727A>C (p.Gln576Pro)
c.908A>C (p.Gln303Pro)
c.1703A>C (p.Gln568Pro)
c.2123A>C (p.Gln708Pro)
c.836A>C (p.Gln279Pro)
n.1041A>C
c.2180A>C (p.Gln727Pro)
c.443A>C (p.Gln148Pro)
n.357A>C
c.1304A>C (p.Gln435Pro)
c.1942A>C
c.1805A>C (p.Gln602Pro)
n.1483A>C
c.1250A>C (p.Gln417Pro)
c.2195A>C (p.Gln732Pro)
c.2183A>C (p.Gln728Pro)
c.1802A>C (p.Gln601Pro)
c.1730A>C (p.Gln577Pro)
c.1229A>C (p.Gln410Pro)
c.2096A>C (p.Gln699Pro)
c.2042A>C (p.Gln681Pro)
c.2120A>C (p.Gln707Pro)
c.2105A>C (p.Gln702Pro)
c.1733A>C (p.Gln578Pro)
c.2021A>C (p.Gln674Pro)
c.1625A>C (p.Gln542Pro)
c.1337A>C (p.Gln446Pro)
c.1658A>C (p.Gln553Pro)
c.1571A>C (p.Gln524Pro)
c.1340A>C (p.Gln447Pro)
c.1265A>C (p.Gln422Pro)
c.1262A>C (p.Gln421Pro)
c.2108A>C (p.Gln703Pro)
c.1574A>C (p.Gln525Pro)
c.1655A>C (p.Gln552Pro)
c.2093A>C (p.Gln698Pro)
n.2263A>C
c.1226A>C (p.Gln409Pro)
n.2135A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.88610934A>GCA390566465ZC3H14c.2198A>G (p.Gln733Arg)
c.*1406A>G (n.*1406A>G)
c.1727A>G (p.Gln576Arg)
c.908A>G (p.Gln303Arg)
c.1703A>G (p.Gln568Arg)
c.2123A>G (p.Gln708Arg)
c.836A>G (p.Gln279Arg)
n.1041A>G
c.2180A>G (p.Gln727Arg)
c.443A>G (p.Gln148Arg)
n.357A>G
c.1304A>G (p.Gln435Arg)
c.1942A>G
c.1805A>G (p.Gln602Arg)
n.1483A>G
c.1250A>G (p.Gln417Arg)
c.2195A>G (p.Gln732Arg)
c.2183A>G (p.Gln728Arg)
c.1802A>G (p.Gln601Arg)
c.1730A>G (p.Gln577Arg)
c.1229A>G (p.Gln410Arg)
c.2096A>G (p.Gln699Arg)
c.2042A>G (p.Gln681Arg)
c.2120A>G (p.Gln707Arg)
c.2105A>G (p.Gln702Arg)
c.1733A>G (p.Gln578Arg)
c.2021A>G (p.Gln674Arg)
c.1625A>G (p.Gln542Arg)
c.1337A>G (p.Gln446Arg)
c.1658A>G (p.Gln553Arg)
c.1571A>G (p.Gln524Arg)
c.1340A>G (p.Gln447Arg)
c.1265A>G (p.Gln422Arg)
c.1262A>G (p.Gln421Arg)
c.2108A>G (p.Gln703Arg)
c.1574A>G (p.Gln525Arg)
c.1655A>G (p.Gln552Arg)
c.2093A>G (p.Gln698Arg)
n.2263A>G
c.1226A>G (p.Gln409Arg)
n.2135A>G
14g.88610934A>TCA390566467ZC3H14c.2198A>T (p.Gln733Leu)
c.*1406A>T (n.*1406A>T)
c.1727A>T (p.Gln576Leu)
c.908A>T (p.Gln303Leu)
c.1703A>T (p.Gln568Leu)
c.2123A>T (p.Gln708Leu)
c.836A>T (p.Gln279Leu)
n.1041A>T
c.2180A>T (p.Gln727Leu)
c.443A>T (p.Gln148Leu)
n.357A>T
c.1304A>T (p.Gln435Leu)
c.1942A>T
c.1805A>T (p.Gln602Leu)
n.1483A>T
c.1250A>T (p.Gln417Leu)
c.2195A>T (p.Gln732Leu)
c.2183A>T (p.Gln728Leu)
c.1802A>T (p.Gln601Leu)
c.1730A>T (p.Gln577Leu)
c.1229A>T (p.Gln410Leu)
c.2096A>T (p.Gln699Leu)
c.2042A>T (p.Gln681Leu)
c.2120A>T (p.Gln707Leu)
c.2105A>T (p.Gln702Leu)
c.1733A>T (p.Gln578Leu)
c.2021A>T (p.Gln674Leu)
c.1625A>T (p.Gln542Leu)
c.1337A>T (p.Gln446Leu)
c.1658A>T (p.Gln553Leu)
c.1571A>T (p.Gln524Leu)
c.1340A>T (p.Gln447Leu)
c.1265A>T (p.Gln422Leu)
c.1262A>T (p.Gln421Leu)
c.2108A>T (p.Gln703Leu)
c.1574A>T (p.Gln525Leu)
c.1655A>T (p.Gln552Leu)
c.2093A>T (p.Gln698Leu)
n.2263A>T
c.1226A>T (p.Gln409Leu)
n.2135A>T
14g.88610935A>CCA390566469ZC3H14c.2199A>C (p.Gln733His)
c.*1407A>C (n.*1407A>C)
c.1728A>C (p.Gln576His)
c.909A>C (p.Gln303His)
c.1704A>C (p.Gln568His)
c.2124A>C (p.Gln708His)
c.837A>C (p.Gln279His)
n.1042A>C
c.2181A>C (p.Gln727His)
c.444A>C (p.Gln148His)
n.358A>C
c.1305A>C (p.Gln435His)
c.1943A>C
c.1806A>C (p.Gln602His)
n.1484A>C
c.1251A>C (p.Gln417His)
c.2196A>C (p.Gln732His)
c.2184A>C (p.Gln728His)
c.1803A>C (p.Gln601His)
c.1731A>C (p.Gln577His)
c.1230A>C (p.Gln410His)
c.2097A>C (p.Gln699His)
c.2043A>C (p.Gln681His)
c.2121A>C (p.Gln707His)
c.2106A>C (p.Gln702His)
c.1734A>C (p.Gln578His)
c.2022A>C (p.Gln674His)
c.1626A>C (p.Gln542His)
c.1338A>C (p.Gln446His)
c.1659A>C (p.Gln553His)
c.1572A>C (p.Gln524His)
c.1341A>C (p.Gln447His)
c.1266A>C (p.Gln422His)
c.1263A>C (p.Gln421His)
c.2109A>C (p.Gln703His)
c.1575A>C (p.Gln525His)
c.1656A>C (p.Gln552His)
c.2094A>C (p.Gln698His)
n.2264A>C
c.1227A>C (p.Gln409His)
n.2136A>C
14g.88610935A>GCA487280468ZC3H14c.2199A>G (p.Gln733=)
c.*1407A>G (n.*1407A>G)
c.1728A>G (p.Gln576=)
c.909A>G (p.Gln303=)
c.1704A>G (p.Gln568=)
c.2124A>G (p.Gln708=)
c.837A>G (p.Gln279=)
n.1042A>G
c.2181A>G (p.Gln727=)
c.444A>G (p.Gln148=)
n.358A>G
c.1305A>G (p.Gln435=)
c.1943A>G
c.1806A>G (p.Gln602=)
n.1484A>G
c.1251A>G (p.Gln417=)
c.2196A>G (p.Gln732=)
c.2184A>G (p.Gln728=)
c.1803A>G (p.Gln601=)
c.1731A>G (p.Gln577=)
c.1230A>G (p.Gln410=)
c.2097A>G (p.Gln699=)
c.2043A>G (p.Gln681=)
c.2121A>G (p.Gln707=)
c.2106A>G (p.Gln702=)
c.1734A>G (p.Gln578=)
c.2022A>G (p.Gln674=)
c.1626A>G (p.Gln542=)
c.1338A>G (p.Gln446=)
c.1659A>G (p.Gln553=)
c.1572A>G (p.Gln524=)
c.1341A>G (p.Gln447=)
c.1266A>G (p.Gln422=)
c.1263A>G (p.Gln421=)
c.2109A>G (p.Gln703=)
c.1575A>G (p.Gln525=)
c.1656A>G (p.Gln552=)
c.2094A>G (p.Gln698=)
n.2264A>G
c.1227A>G (p.Gln409=)
n.2136A>G
 gnomAD v4
14g.88610935A>TCA390566476ZC3H14c.2199A>T (p.Gln733His)
c.*1407A>T (n.*1407A>T)
c.1728A>T (p.Gln576His)
c.909A>T (p.Gln303His)
c.1704A>T (p.Gln568His)
c.2124A>T (p.Gln708His)
c.837A>T (p.Gln279His)
n.1042A>T
c.2181A>T (p.Gln727His)
c.444A>T (p.Gln148His)
n.358A>T
c.1305A>T (p.Gln435His)
c.1943A>T
c.1806A>T (p.Gln602His)
n.1484A>T
c.1251A>T (p.Gln417His)
c.2196A>T (p.Gln732His)
c.2184A>T (p.Gln728His)
c.1803A>T (p.Gln601His)
c.1731A>T (p.Gln577His)
c.1230A>T (p.Gln410His)
c.2097A>T (p.Gln699His)
c.2043A>T (p.Gln681His)
c.2121A>T (p.Gln707His)
c.2106A>T (p.Gln702His)
c.1734A>T (p.Gln578His)
c.2022A>T (p.Gln674His)
c.1626A>T (p.Gln542His)
c.1338A>T (p.Gln446His)
c.1659A>T (p.Gln553His)
c.1572A>T (p.Gln524His)
c.1341A>T (p.Gln447His)
c.1266A>T (p.Gln422His)
c.1263A>T (p.Gln421His)
c.2109A>T (p.Gln703His)
c.1575A>T (p.Gln525His)
c.1656A>T (p.Gln552His)
c.2094A>T (p.Gln698His)
n.2264A>T
c.1227A>T (p.Gln409His)
n.2136A>T
14g.88610936A>CCA390566478ZC3H14c.2200A>C (p.Thr734Pro)
c.*1408A>C (n.*1408A>C)
c.1729A>C (p.Thr577Pro)
c.910A>C (p.Thr304Pro)
c.1705A>C (p.Thr569Pro)
c.2125A>C (p.Thr709Pro)
c.838A>C (p.Thr280Pro)
n.1043A>C
c.2182A>C (p.Thr728Pro)
c.445A>C (p.Thr149Pro)
n.359A>C
c.1306A>C (p.Thr436Pro)
c.1944A>C
c.1807A>C (p.Thr603Pro)
n.1485A>C
c.1252A>C (p.Thr418Pro)
c.2197A>C (p.Thr733Pro)
c.2185A>C (p.Thr729Pro)
c.1804A>C (p.Thr602Pro)
c.1732A>C (p.Thr578Pro)
c.1231A>C (p.Thr411Pro)
c.2098A>C (p.Thr700Pro)
c.2044A>C (p.Thr682Pro)
c.2122A>C (p.Thr708Pro)
c.2107A>C (p.Thr703Pro)
c.1735A>C (p.Thr579Pro)
c.2023A>C (p.Thr675Pro)
c.1627A>C (p.Thr543Pro)
c.1339A>C (p.Thr447Pro)
c.1660A>C (p.Thr554Pro)
c.1573A>C (p.Thr525Pro)
c.1342A>C (p.Thr448Pro)
c.1267A>C (p.Thr423Pro)
c.1264A>C (p.Thr422Pro)
c.2110A>C (p.Thr704Pro)
c.1576A>C (p.Thr526Pro)
c.1657A>C (p.Thr553Pro)
c.2095A>C (p.Thr699Pro)
n.2265A>C
c.1228A>C (p.Thr410Pro)
n.2137A>C
14g.88610936A>GCA390566480ZC3H14c.2200A>G (p.Thr734Ala)
c.*1408A>G (n.*1408A>G)
c.1729A>G (p.Thr577Ala)
c.910A>G (p.Thr304Ala)
c.1705A>G (p.Thr569Ala)
c.2125A>G (p.Thr709Ala)
c.838A>G (p.Thr280Ala)
n.1043A>G
c.2182A>G (p.Thr728Ala)
c.445A>G (p.Thr149Ala)
n.359A>G
c.1306A>G (p.Thr436Ala)
c.1944A>G
c.1807A>G (p.Thr603Ala)
n.1485A>G
c.1252A>G (p.Thr418Ala)
c.2197A>G (p.Thr733Ala)
c.2185A>G (p.Thr729Ala)
c.1804A>G (p.Thr602Ala)
c.1732A>G (p.Thr578Ala)
c.1231A>G (p.Thr411Ala)
c.2098A>G (p.Thr700Ala)
c.2044A>G (p.Thr682Ala)
c.2122A>G (p.Thr708Ala)
c.2107A>G (p.Thr703Ala)
c.1735A>G (p.Thr579Ala)
c.2023A>G (p.Thr675Ala)
c.1627A>G (p.Thr543Ala)
c.1339A>G (p.Thr447Ala)
c.1660A>G (p.Thr554Ala)
c.1573A>G (p.Thr525Ala)
c.1342A>G (p.Thr448Ala)
c.1267A>G (p.Thr423Ala)
c.1264A>G (p.Thr422Ala)
c.2110A>G (p.Thr704Ala)
c.1576A>G (p.Thr526Ala)
c.1657A>G (p.Thr553Ala)
c.2095A>G (p.Thr699Ala)
n.2265A>G
c.1228A>G (p.Thr410Ala)
n.2137A>G
14g.88610936A>TCA390566484ZC3H14c.2200A>T (p.Thr734Ser)
c.*1408A>T (n.*1408A>T)
c.1729A>T (p.Thr577Ser)
c.910A>T (p.Thr304Ser)
c.1705A>T (p.Thr569Ser)
c.2125A>T (p.Thr709Ser)
c.838A>T (p.Thr280Ser)
n.1043A>T
c.2182A>T (p.Thr728Ser)
c.445A>T (p.Thr149Ser)
n.359A>T
c.1306A>T (p.Thr436Ser)
c.1944A>T
c.1807A>T (p.Thr603Ser)
n.1485A>T
c.1252A>T (p.Thr418Ser)
c.2197A>T (p.Thr733Ser)
c.2185A>T (p.Thr729Ser)
c.1804A>T (p.Thr602Ser)
c.1732A>T (p.Thr578Ser)
c.1231A>T (p.Thr411Ser)
c.2098A>T (p.Thr700Ser)
c.2044A>T (p.Thr682Ser)
c.2122A>T (p.Thr708Ser)
c.2107A>T (p.Thr703Ser)
c.1735A>T (p.Thr579Ser)
c.2023A>T (p.Thr675Ser)
c.1627A>T (p.Thr543Ser)
c.1339A>T (p.Thr447Ser)
c.1660A>T (p.Thr554Ser)
c.1573A>T (p.Thr525Ser)
c.1342A>T (p.Thr448Ser)
c.1267A>T (p.Thr423Ser)
c.1264A>T (p.Thr422Ser)
c.2110A>T (p.Thr704Ser)
c.1576A>T (p.Thr526Ser)
c.1657A>T (p.Thr553Ser)
c.2095A>T (p.Thr699Ser)
n.2265A>T
c.1228A>T (p.Thr410Ser)
n.2137A>T
14g.88610937C>ACA390566491ZC3H14c.2201C>A (p.Thr734Asn)
c.*1409C>A (n.*1409C>A)
c.1730C>A (p.Thr577Asn)
c.911C>A (p.Thr304Asn)
c.1706C>A (p.Thr569Asn)
c.2126C>A (p.Thr709Asn)
c.839C>A (p.Thr280Asn)
n.1044C>A
c.2183C>A (p.Thr728Asn)
c.446C>A (p.Thr149Asn)
n.360C>A
c.1307C>A (p.Thr436Asn)
c.1945C>A
c.1808C>A (p.Thr603Asn)
n.1486C>A
c.1253C>A (p.Thr418Asn)
c.2198C>A (p.Thr733Asn)
c.2186C>A (p.Thr729Asn)
c.1805C>A (p.Thr602Asn)
c.1733C>A (p.Thr578Asn)
c.1232C>A (p.Thr411Asn)
c.2099C>A (p.Thr700Asn)
c.2045C>A (p.Thr682Asn)
c.2123C>A (p.Thr708Asn)
c.2108C>A (p.Thr703Asn)
c.1736C>A (p.Thr579Asn)
c.2024C>A (p.Thr675Asn)
c.1628C>A (p.Thr543Asn)
c.1340C>A (p.Thr447Asn)
c.1661C>A (p.Thr554Asn)
c.1574C>A (p.Thr525Asn)
c.1343C>A (p.Thr448Asn)
c.1268C>A (p.Thr423Asn)
c.1265C>A (p.Thr422Asn)
c.2111C>A (p.Thr704Asn)
c.1577C>A (p.Thr526Asn)
c.1658C>A (p.Thr553Asn)
c.2096C>A (p.Thr699Asn)
n.2266C>A
c.1229C>A (p.Thr410Asn)
n.2138C>A
 gnomAD v4
14g.88610937C>GCA390566494ZC3H14c.2201C>G (p.Thr734Ser)
c.*1409C>G (n.*1409C>G)
c.1730C>G (p.Thr577Ser)
c.911C>G (p.Thr304Ser)
c.1706C>G (p.Thr569Ser)
c.2126C>G (p.Thr709Ser)
c.839C>G (p.Thr280Ser)
n.1044C>G
c.2183C>G (p.Thr728Ser)
c.446C>G (p.Thr149Ser)
n.360C>G
c.1307C>G (p.Thr436Ser)
c.1945C>G
c.1808C>G (p.Thr603Ser)
n.1486C>G
c.1253C>G (p.Thr418Ser)
c.2198C>G (p.Thr733Ser)
c.2186C>G (p.Thr729Ser)
c.1805C>G (p.Thr602Ser)
c.1733C>G (p.Thr578Ser)
c.1232C>G (p.Thr411Ser)
c.2099C>G (p.Thr700Ser)
c.2045C>G (p.Thr682Ser)
c.2123C>G (p.Thr708Ser)
c.2108C>G (p.Thr703Ser)
c.1736C>G (p.Thr579Ser)
c.2024C>G (p.Thr675Ser)
c.1628C>G (p.Thr543Ser)
c.1340C>G (p.Thr447Ser)
c.1661C>G (p.Thr554Ser)
c.1574C>G (p.Thr525Ser)
c.1343C>G (p.Thr448Ser)
c.1268C>G (p.Thr423Ser)
c.1265C>G (p.Thr422Ser)
c.2111C>G (p.Thr704Ser)
c.1577C>G (p.Thr526Ser)
c.1658C>G (p.Thr553Ser)
c.2096C>G (p.Thr699Ser)
n.2266C>G
c.1229C>G (p.Thr410Ser)
n.2138C>G
14g.88610937C>TCA390566490ZC3H14c.2201C>T (p.Thr734Ile)
c.*1409C>T (n.*1409C>T)
c.1730C>T (p.Thr577Ile)
c.911C>T (p.Thr304Ile)
c.1706C>T (p.Thr569Ile)
c.2126C>T (p.Thr709Ile)
c.839C>T (p.Thr280Ile)
n.1044C>T
c.2183C>T (p.Thr728Ile)
c.446C>T (p.Thr149Ile)
n.360C>T
c.1307C>T (p.Thr436Ile)
c.1945C>T
c.1808C>T (p.Thr603Ile)
n.1486C>T
c.1253C>T (p.Thr418Ile)
c.2198C>T (p.Thr733Ile)
c.2186C>T (p.Thr729Ile)
c.1805C>T (p.Thr602Ile)
c.1733C>T (p.Thr578Ile)
c.1232C>T (p.Thr411Ile)
c.2099C>T (p.Thr700Ile)
c.2045C>T (p.Thr682Ile)
c.2123C>T (p.Thr708Ile)
c.2108C>T (p.Thr703Ile)
c.1736C>T (p.Thr579Ile)
c.2024C>T (p.Thr675Ile)
c.1628C>T (p.Thr543Ile)
c.1340C>T (p.Thr447Ile)
c.1661C>T (p.Thr554Ile)
c.1574C>T (p.Thr525Ile)
c.1343C>T (p.Thr448Ile)
c.1268C>T (p.Thr423Ile)
c.1265C>T (p.Thr422Ile)
c.2111C>T (p.Thr704Ile)
c.1577C>T (p.Thr526Ile)
c.1658C>T (p.Thr553Ile)
c.2096C>T (p.Thr699Ile)
n.2266C>T
c.1229C>T (p.Thr410Ile)
n.2138C>T
14g.88610938C>ACA487280469ZC3H14c.2202C>A (p.Thr734=)
c.*1410C>A (n.*1410C>A)
c.1731C>A (p.Thr577=)
c.912C>A (p.Thr304=)
c.1707C>A (p.Thr569=)
c.2127C>A (p.Thr709=)
c.840C>A (p.Thr280=)
n.1045C>A
c.2184C>A (p.Thr728=)
c.447C>A (p.Thr149=)
n.361C>A
c.1308C>A (p.Thr436=)
c.1946C>A
c.1809C>A (p.Thr603=)
n.1487C>A
c.1254C>A (p.Thr418=)
c.2199C>A (p.Thr733=)
c.2187C>A (p.Thr729=)
c.1806C>A (p.Thr602=)
c.1734C>A (p.Thr578=)
c.1233C>A (p.Thr411=)
c.2100C>A (p.Thr700=)
c.2046C>A (p.Thr682=)
c.2124C>A (p.Thr708=)
c.2109C>A (p.Thr703=)
c.1737C>A (p.Thr579=)
c.2025C>A (p.Thr675=)
c.1629C>A (p.Thr543=)
c.1341C>A (p.Thr447=)
c.1662C>A (p.Thr554=)
c.1575C>A (p.Thr525=)
c.1344C>A (p.Thr448=)
c.1269C>A (p.Thr423=)
c.1266C>A (p.Thr422=)
c.2112C>A (p.Thr704=)
c.1578C>A (p.Thr526=)
c.1659C>A (p.Thr553=)
c.2097C>A (p.Thr699=)
n.2267C>A
c.1230C>A (p.Thr410=)
n.2139C>A
14g.88610938C=CA2153694421ZC3H14c.2202C= (p.Thr734=)
c.*1410C= (n.*1410C=)
c.1731C= (p.Thr577=)
c.912C= (p.Thr304=)
c.1707C= (p.Thr569=)
c.2127C= (p.Thr709=)
c.840C= (p.Thr280=)
n.1045C=
c.2184C= (p.Thr728=)
c.447C= (p.Thr149=)
n.361C=
c.1308C= (p.Thr436=)
c.1946C=
c.1809C= (p.Thr603=)
n.1487C=
c.1254C= (p.Thr418=)
c.2199C= (p.Thr733=)
c.2187C= (p.Thr729=)
c.1806C= (p.Thr602=)
c.1734C= (p.Thr578=)
c.1233C= (p.Thr411=)
c.2100C= (p.Thr700=)
c.2046C= (p.Thr682=)
c.2124C= (p.Thr708=)
c.2109C= (p.Thr703=)
c.1737C= (p.Thr579=)
c.2025C= (p.Thr675=)
c.1629C= (p.Thr543=)
c.1341C= (p.Thr447=)
c.1662C= (p.Thr554=)
c.1575C= (p.Thr525=)
c.1344C= (p.Thr448=)
c.1269C= (p.Thr423=)
c.1266C= (p.Thr422=)
c.2112C= (p.Thr704=)
c.1578C= (p.Thr526=)
c.1659C= (p.Thr553=)
c.2097C= (p.Thr699=)
n.2267C=
c.1230C= (p.Thr410=)
n.2139C=
14g.88610938C>GCA487280470ZC3H14c.2202C>G (p.Thr734=)
c.*1410C>G (n.*1410C>G)
c.1731C>G (p.Thr577=)
c.912C>G (p.Thr304=)
c.1707C>G (p.Thr569=)
c.2127C>G (p.Thr709=)
c.840C>G (p.Thr280=)
n.1045C>G
c.2184C>G (p.Thr728=)
c.447C>G (p.Thr149=)
n.361C>G
c.1308C>G (p.Thr436=)
c.1946C>G
c.1809C>G (p.Thr603=)
n.1487C>G
c.1254C>G (p.Thr418=)
c.2199C>G (p.Thr733=)
c.2187C>G (p.Thr729=)
c.1806C>G (p.Thr602=)
c.1734C>G (p.Thr578=)
c.1233C>G (p.Thr411=)
c.2100C>G (p.Thr700=)
c.2046C>G (p.Thr682=)
c.2124C>G (p.Thr708=)
c.2109C>G (p.Thr703=)
c.1737C>G (p.Thr579=)
c.2025C>G (p.Thr675=)
c.1629C>G (p.Thr543=)
c.1341C>G (p.Thr447=)
c.1662C>G (p.Thr554=)
c.1575C>G (p.Thr525=)
c.1344C>G (p.Thr448=)
c.1269C>G (p.Thr423=)
c.1266C>G (p.Thr422=)
c.2112C>G (p.Thr704=)
c.1578C>G (p.Thr526=)
c.1659C>G (p.Thr553=)
c.2097C>G (p.Thr699=)
n.2267C>G
c.1230C>G (p.Thr410=)
n.2139C>G
14g.88610938C>TCA7300789ZC3H14c.2202C>T (p.Thr734=)
c.*1410C>T (n.*1410C>T)
c.1731C>T (p.Thr577=)
c.912C>T (p.Thr304=)
c.1707C>T (p.Thr569=)
c.2127C>T (p.Thr709=)
c.840C>T (p.Thr280=)
n.1045C>T
c.2184C>T (p.Thr728=)
c.447C>T (p.Thr149=)
n.361C>T
c.1308C>T (p.Thr436=)
c.1946C>T
c.1809C>T (p.Thr603=)
n.1487C>T
c.1254C>T (p.Thr418=)
c.2199C>T (p.Thr733=)
c.2187C>T (p.Thr729=)
c.1806C>T (p.Thr602=)
c.1734C>T (p.Thr578=)
c.1233C>T (p.Thr411=)
c.2100C>T (p.Thr700=)
c.2046C>T (p.Thr682=)
c.2124C>T (p.Thr708=)
c.2109C>T (p.Thr703=)
c.1737C>T (p.Thr579=)
c.2025C>T (p.Thr675=)
c.1629C>T (p.Thr543=)
c.1341C>T (p.Thr447=)
c.1662C>T (p.Thr554=)
c.1575C>T (p.Thr525=)
c.1344C>T (p.Thr448=)
c.1269C>T (p.Thr423=)
c.1266C>T (p.Thr422=)
c.2112C>T (p.Thr704=)
c.1578C>T (p.Thr526=)
c.1659C>T (p.Thr553=)
c.2097C>T (p.Thr699=)
n.2267C>T
c.1230C>T (p.Thr410=)
n.2139C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.88610939A=CA2153694422ZC3H14c.2203A= (p.Ser735=)
c.*1411A= (n.*1411A=)
c.1732A= (p.Ser578=)
c.913A= (p.Ser305=)
c.1708A= (p.Ser570=)
c.2128A= (p.Ser710=)
c.841A= (p.Ser281=)
n.1046A=
c.2185A= (p.Ser729=)
c.448A= (p.Ser150=)
n.362A=
c.1309A= (p.Ser437=)
c.1947A=
c.1810A= (p.Ser604=)
n.1488A=
c.1255A= (p.Ser419=)
c.2200A= (p.Ser734=)
c.2188A= (p.Ser730=)
c.1807A= (p.Ser603=)
c.1735A= (p.Ser579=)
c.1234A= (p.Ser412=)
c.2101A= (p.Ser701=)
c.2047A= (p.Ser683=)
c.2125A= (p.Ser709=)
c.2110A= (p.Ser704=)
c.1738A= (p.Ser580=)
c.2026A= (p.Ser676=)
c.1630A= (p.Ser544=)
c.1342A= (p.Ser448=)
c.1663A= (p.Ser555=)
c.1576A= (p.Ser526=)
c.1345A= (p.Ser449=)
c.1270A= (p.Ser424=)
c.1267A= (p.Ser423=)
c.2113A= (p.Ser705=)
c.1579A= (p.Ser527=)
c.1660A= (p.Ser554=)
c.2098A= (p.Ser700=)
n.2268A=
c.1231A= (p.Ser411=)
n.2140A=
14g.88610939A>CCA390566500ZC3H14c.2203A>C (p.Ser735Arg)
c.*1411A>C (n.*1411A>C)
c.1732A>C (p.Ser578Arg)
c.913A>C (p.Ser305Arg)
c.1708A>C (p.Ser570Arg)
c.2128A>C (p.Ser710Arg)
c.841A>C (p.Ser281Arg)
n.1046A>C
c.2185A>C (p.Ser729Arg)
c.448A>C (p.Ser150Arg)
n.362A>C
c.1309A>C (p.Ser437Arg)
c.1947A>C
c.1810A>C (p.Ser604Arg)
n.1488A>C
c.1255A>C (p.Ser419Arg)
c.2200A>C (p.Ser734Arg)
c.2188A>C (p.Ser730Arg)
c.1807A>C (p.Ser603Arg)
c.1735A>C (p.Ser579Arg)
c.1234A>C (p.Ser412Arg)
c.2101A>C (p.Ser701Arg)
c.2047A>C (p.Ser683Arg)
c.2125A>C (p.Ser709Arg)
c.2110A>C (p.Ser704Arg)
c.1738A>C (p.Ser580Arg)
c.2026A>C (p.Ser676Arg)
c.1630A>C (p.Ser544Arg)
c.1342A>C (p.Ser448Arg)
c.1663A>C (p.Ser555Arg)
c.1576A>C (p.Ser526Arg)
c.1345A>C (p.Ser449Arg)
c.1270A>C (p.Ser424Arg)
c.1267A>C (p.Ser423Arg)
c.2113A>C (p.Ser705Arg)
c.1579A>C (p.Ser527Arg)
c.1660A>C (p.Ser554Arg)
c.2098A>C (p.Ser700Arg)
n.2268A>C
c.1231A>C (p.Ser411Arg)
n.2140A>C
14g.88610939A>GCA7300790ZC3H14c.2203A>G (p.Ser735Gly)
c.*1411A>G (n.*1411A>G)
c.1732A>G (p.Ser578Gly)
c.913A>G (p.Ser305Gly)
c.1708A>G (p.Ser570Gly)
c.2128A>G (p.Ser710Gly)
c.841A>G (p.Ser281Gly)
n.1046A>G
c.2185A>G (p.Ser729Gly)
c.448A>G (p.Ser150Gly)
n.362A>G
c.1309A>G (p.Ser437Gly)
c.1947A>G
c.1810A>G (p.Ser604Gly)
n.1488A>G
c.1255A>G (p.Ser419Gly)
c.2200A>G (p.Ser734Gly)
c.2188A>G (p.Ser730Gly)
c.1807A>G (p.Ser603Gly)
c.1735A>G (p.Ser579Gly)
c.1234A>G (p.Ser412Gly)
c.2101A>G (p.Ser701Gly)
c.2047A>G (p.Ser683Gly)
c.2125A>G (p.Ser709Gly)
c.2110A>G (p.Ser704Gly)
c.1738A>G (p.Ser580Gly)
c.2026A>G (p.Ser676Gly)
c.1630A>G (p.Ser544Gly)
c.1342A>G (p.Ser448Gly)
c.1663A>G (p.Ser555Gly)
c.1576A>G (p.Ser526Gly)
c.1345A>G (p.Ser449Gly)
c.1270A>G (p.Ser424Gly)
c.1267A>G (p.Ser423Gly)
c.2113A>G (p.Ser705Gly)
c.1579A>G (p.Ser527Gly)
c.1660A>G (p.Ser554Gly)
c.2098A>G (p.Ser700Gly)
n.2268A>G
c.1231A>G (p.Ser411Gly)
n.2140A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.88610939A>TCA390566502ZC3H14c.2203A>T (p.Ser735Cys)
c.*1411A>T (n.*1411A>T)
c.1732A>T (p.Ser578Cys)
c.913A>T (p.Ser305Cys)
c.1708A>T (p.Ser570Cys)
c.2128A>T (p.Ser710Cys)
c.841A>T (p.Ser281Cys)
n.1046A>T
c.2185A>T (p.Ser729Cys)
c.448A>T (p.Ser150Cys)
n.362A>T
c.1309A>T (p.Ser437Cys)
c.1947A>T
c.1810A>T (p.Ser604Cys)
n.1488A>T
c.1255A>T (p.Ser419Cys)
c.2200A>T (p.Ser734Cys)
c.2188A>T (p.Ser730Cys)
c.1807A>T (p.Ser603Cys)
c.1735A>T (p.Ser579Cys)
c.1234A>T (p.Ser412Cys)
c.2101A>T (p.Ser701Cys)
c.2047A>T (p.Ser683Cys)
c.2125A>T (p.Ser709Cys)
c.2110A>T (p.Ser704Cys)
c.1738A>T (p.Ser580Cys)
c.2026A>T (p.Ser676Cys)
c.1630A>T (p.Ser544Cys)
c.1342A>T (p.Ser448Cys)
c.1663A>T (p.Ser555Cys)
c.1576A>T (p.Ser526Cys)
c.1345A>T (p.Ser449Cys)
c.1270A>T (p.Ser424Cys)
c.1267A>T (p.Ser423Cys)
c.2113A>T (p.Ser705Cys)
c.1579A>T (p.Ser527Cys)
c.1660A>T (p.Ser554Cys)
c.2098A>T (p.Ser700Cys)
n.2268A>T
c.1231A>T (p.Ser411Cys)
n.2140A>T
14g.88610940G>ACA390566505ZC3H14c.2204G>A (p.Ser735Asn)
c.*1412G>A (n.*1412G>A)
c.1733G>A (p.Ser578Asn)
c.914G>A (p.Ser305Asn)
c.1709G>A (p.Ser570Asn)
c.2129G>A (p.Ser710Asn)
c.842G>A (p.Ser281Asn)
n.1047G>A
c.2186G>A (p.Ser729Asn)
c.449G>A (p.Ser150Asn)
n.363G>A
c.1310G>A (p.Ser437Asn)
c.1948G>A
c.1811G>A (p.Ser604Asn)
n.1489G>A
c.1256G>A (p.Ser419Asn)
c.2201G>A (p.Ser734Asn)
c.2189G>A (p.Ser730Asn)
c.1808G>A (p.Ser603Asn)
c.1736G>A (p.Ser579Asn)
c.1235G>A (p.Ser412Asn)
c.2102G>A (p.Ser701Asn)
c.2048G>A (p.Ser683Asn)
c.2126G>A (p.Ser709Asn)
c.2111G>A (p.Ser704Asn)
c.1739G>A (p.Ser580Asn)
c.2027G>A (p.Ser676Asn)
c.1631G>A (p.Ser544Asn)
c.1343G>A (p.Ser448Asn)
c.1664G>A (p.Ser555Asn)
c.1577G>A (p.Ser526Asn)
c.1346G>A (p.Ser449Asn)
c.1271G>A (p.Ser424Asn)
c.1268G>A (p.Ser423Asn)
c.2114G>A (p.Ser705Asn)
c.1580G>A (p.Ser527Asn)
c.1661G>A (p.Ser554Asn)
c.2099G>A (p.Ser700Asn)
n.2269G>A
c.1232G>A (p.Ser411Asn)
n.2141G>A
14g.88610940G>CCA390566513ZC3H14c.2204G>C (p.Ser735Thr)
c.*1412G>C (n.*1412G>C)
c.1733G>C (p.Ser578Thr)
c.914G>C (p.Ser305Thr)
c.1709G>C (p.Ser570Thr)
c.2129G>C (p.Ser710Thr)
c.842G>C (p.Ser281Thr)
n.1047G>C
c.2186G>C (p.Ser729Thr)
c.449G>C (p.Ser150Thr)
n.363G>C
c.1310G>C (p.Ser437Thr)
c.1948G>C
c.1811G>C (p.Ser604Thr)
n.1489G>C
c.1256G>C (p.Ser419Thr)
c.2201G>C (p.Ser734Thr)
c.2189G>C (p.Ser730Thr)
c.1808G>C (p.Ser603Thr)
c.1736G>C (p.Ser579Thr)
c.1235G>C (p.Ser412Thr)
c.2102G>C (p.Ser701Thr)
c.2048G>C (p.Ser683Thr)
c.2126G>C (p.Ser709Thr)
c.2111G>C (p.Ser704Thr)
c.1739G>C (p.Ser580Thr)
c.2027G>C (p.Ser676Thr)
c.1631G>C (p.Ser544Thr)
c.1343G>C (p.Ser448Thr)
c.1664G>C (p.Ser555Thr)
c.1577G>C (p.Ser526Thr)
c.1346G>C (p.Ser449Thr)
c.1271G>C (p.Ser424Thr)
c.1268G>C (p.Ser423Thr)
c.2114G>C (p.Ser705Thr)
c.1580G>C (p.Ser527Thr)
c.1661G>C (p.Ser554Thr)
c.2099G>C (p.Ser700Thr)
n.2269G>C
c.1232G>C (p.Ser411Thr)
n.2141G>C
14g.88610940G>TCA390566508ZC3H14c.2204G>T (p.Ser735Ile)
c.*1412G>T (n.*1412G>T)
c.1733G>T (p.Ser578Ile)
c.914G>T (p.Ser305Ile)
c.1709G>T (p.Ser570Ile)
c.2129G>T (p.Ser710Ile)
c.842G>T (p.Ser281Ile)
n.1047G>T
c.2186G>T (p.Ser729Ile)
c.449G>T (p.Ser150Ile)
n.363G>T
c.1310G>T (p.Ser437Ile)
c.1948G>T
c.1811G>T (p.Ser604Ile)
n.1489G>T
c.1256G>T (p.Ser419Ile)
c.2201G>T (p.Ser734Ile)
c.2189G>T (p.Ser730Ile)
c.1808G>T (p.Ser603Ile)
c.1736G>T (p.Ser579Ile)
c.1235G>T (p.Ser412Ile)
c.2102G>T (p.Ser701Ile)
c.2048G>T (p.Ser683Ile)
c.2126G>T (p.Ser709Ile)
c.2111G>T (p.Ser704Ile)
c.1739G>T (p.Ser580Ile)
c.2027G>T (p.Ser676Ile)
c.1631G>T (p.Ser544Ile)
c.1343G>T (p.Ser448Ile)
c.1664G>T (p.Ser555Ile)
c.1577G>T (p.Ser526Ile)
c.1346G>T (p.Ser449Ile)
c.1271G>T (p.Ser424Ile)
c.1268G>T (p.Ser423Ile)
c.2114G>T (p.Ser705Ile)
c.1580G>T (p.Ser527Ile)
c.1661G>T (p.Ser554Ile)
c.2099G>T (p.Ser700Ile)
n.2269G>T
c.1232G>T (p.Ser411Ile)
n.2141G>T
14g.88610940_88610941insCGAATAGCACCCACA2730181069ZC3H14c.2204_2204+1insCGAATAGCACCCA (n.2204_2204+1insCGAATAGCACCCA)
c.*1412_*1412+1insCGAATAGCACCCA (n.*1412_*1412+1insCGAATAGCACCCA)
c.1733_1733+1insCGAATAGCACCCA (n.1733_1733+1insCGAATAGCACCCA)
c.914_914+1insCGAATAGCACCCA (n.914_914+1insCGAATAGCACCCA)
c.1709_1709+1insCGAATAGCACCCA (n.1709_1709+1insCGAATAGCACCCA)
c.2129_2129+1insCGAATAGCACCCA (n.2129_2129+1insCGAATAGCACCCA)
c.842_842+1insCGAATAGCACCCA (n.842_842+1insCGAATAGCACCCA)
n.1047_1047+1insCGAATAGCACCCA
c.2186_2186+1insCGAATAGCACCCA (n.2186_2186+1insCGAATAGCACCCA)
c.449_449+1insCGAATAGCACCCA (n.449_449+1insCGAATAGCACCCA)
n.363_363+1insCGAATAGCACCCA
c.1310_1310+1insCGAATAGCACCCA (n.1310_1310+1insCGAATAGCACCCA)
c.1948_1948+1insCGAATAGCACCCA
c.1811_1811+1insCGAATAGCACCCA (n.1811_1811+1insCGAATAGCACCCA)
n.1489_1489+1insCGAATAGCACCCA
c.1256_1256+1insCGAATAGCACCCA (n.1256_1256+1insCGAATAGCACCCA)
c.2201_2201+1insCGAATAGCACCCA (n.2201_2201+1insCGAATAGCACCCA)
c.2189_2189+1insCGAATAGCACCCA (n.2189_2189+1insCGAATAGCACCCA)
c.1808_1808+1insCGAATAGCACCCA (n.1808_1808+1insCGAATAGCACCCA)
c.1736_1736+1insCGAATAGCACCCA (n.1736_1736+1insCGAATAGCACCCA)
c.1235_1235+1insCGAATAGCACCCA (n.1235_1235+1insCGAATAGCACCCA)
c.2102_2102+1insCGAATAGCACCCA (n.2102_2102+1insCGAATAGCACCCA)
c.2048_2048+1insCGAATAGCACCCA (n.2048_2048+1insCGAATAGCACCCA)
c.2126_2126+1insCGAATAGCACCCA (n.2126_2126+1insCGAATAGCACCCA)
c.2111_2111+1insCGAATAGCACCCA (n.2111_2111+1insCGAATAGCACCCA)
c.1739_1739+1insCGAATAGCACCCA (n.1739_1739+1insCGAATAGCACCCA)
c.2027_2027+1insCGAATAGCACCCA (n.2027_2027+1insCGAATAGCACCCA)
c.1631_1631+1insCGAATAGCACCCA (n.1631_1631+1insCGAATAGCACCCA)
c.1343_1343+1insCGAATAGCACCCA (n.1343_1343+1insCGAATAGCACCCA)
c.1664_1664+1insCGAATAGCACCCA (n.1664_1664+1insCGAATAGCACCCA)
c.1577_1577+1insCGAATAGCACCCA (n.1577_1577+1insCGAATAGCACCCA)
c.1346_1346+1insCGAATAGCACCCA (n.1346_1346+1insCGAATAGCACCCA)
c.1271_1271+1insCGAATAGCACCCA (n.1271_1271+1insCGAATAGCACCCA)
c.1268_1268+1insCGAATAGCACCCA (n.1268_1268+1insCGAATAGCACCCA)
c.2114_2114+1insCGAATAGCACCCA (n.2114_2114+1insCGAATAGCACCCA)
c.1580_1580+1insCGAATAGCACCCA (n.1580_1580+1insCGAATAGCACCCA)
c.1661_1661+1insCGAATAGCACCCA (n.1661_1661+1insCGAATAGCACCCA)
c.2099_2099+1insCGAATAGCACCCA (n.2099_2099+1insCGAATAGCACCCA)
n.2269_2269+1insCGAATAGCACCCA
c.1232_1232+1insCGAATAGCACCCA (n.1232_1232+1insCGAATAGCACCCA)
n.2141_2141+1insCGAATAGCACCCA
 dbSNP
14g.88610941G>ACA390566517ZC3H14c.2204+1G>A (n.2204+1G>A)
c.*1412+1G>A (n.*1412+1G>A)
c.1733+1G>A (n.1733+1G>A)
c.914+1G>A (n.914+1G>A)
c.1709+1G>A (n.1709+1G>A)
c.2129+1G>A (n.2129+1G>A)
c.842+1G>A (n.842+1G>A)
n.1047+1G>A
c.2186+1G>A (n.2186+1G>A)
c.449+1G>A (n.449+1G>A)
n.363+1G>A
c.1310+1G>A (n.1310+1G>A)
c.1948+1G>A
c.1811+1G>A (n.1811+1G>A)
n.1489+1G>A
c.1256+1G>A (n.1256+1G>A)
c.2201+1G>A (n.2201+1G>A)
c.2189+1G>A (n.2189+1G>A)
c.1808+1G>A (n.1808+1G>A)
c.1736+1G>A (n.1736+1G>A)
c.1235+1G>A (n.1235+1G>A)
c.2102+1G>A (n.2102+1G>A)
c.2048+1G>A (n.2048+1G>A)
c.2126+1G>A (n.2126+1G>A)
c.2111+1G>A (n.2111+1G>A)
c.1739+1G>A (n.1739+1G>A)
c.2027+1G>A (n.2027+1G>A)
c.1631+1G>A (n.1631+1G>A)
c.1343+1G>A (n.1343+1G>A)
c.1664+1G>A (n.1664+1G>A)
c.1577+1G>A (n.1577+1G>A)
c.1346+1G>A (n.1346+1G>A)
c.1271+1G>A (n.1271+1G>A)
c.1268+1G>A (n.1268+1G>A)
c.2114+1G>A (n.2114+1G>A)
c.1580+1G>A (n.1580+1G>A)
c.1661+1G>A (n.1661+1G>A)
c.2099+1G>A (n.2099+1G>A)
n.2269+1G>A
c.1232+1G>A (n.1232+1G>A)
n.2141+1G>A
14g.88610941G>CCA390566522ZC3H14c.2204+1G>C (n.2204+1G>C)
c.*1412+1G>C (n.*1412+1G>C)
c.1733+1G>C (n.1733+1G>C)
c.914+1G>C (n.914+1G>C)
c.1709+1G>C (n.1709+1G>C)
c.2129+1G>C (n.2129+1G>C)
c.842+1G>C (n.842+1G>C)
n.1047+1G>C
c.2186+1G>C (n.2186+1G>C)
c.449+1G>C (n.449+1G>C)
n.363+1G>C
c.1310+1G>C (n.1310+1G>C)
c.1948+1G>C
c.1811+1G>C (n.1811+1G>C)
n.1489+1G>C
c.1256+1G>C (n.1256+1G>C)
c.2201+1G>C (n.2201+1G>C)
c.2189+1G>C (n.2189+1G>C)
c.1808+1G>C (n.1808+1G>C)
c.1736+1G>C (n.1736+1G>C)
c.1235+1G>C (n.1235+1G>C)
c.2102+1G>C (n.2102+1G>C)
c.2048+1G>C (n.2048+1G>C)
c.2126+1G>C (n.2126+1G>C)
c.2111+1G>C (n.2111+1G>C)
c.1739+1G>C (n.1739+1G>C)
c.2027+1G>C (n.2027+1G>C)
c.1631+1G>C (n.1631+1G>C)
c.1343+1G>C (n.1343+1G>C)
c.1664+1G>C (n.1664+1G>C)
c.1577+1G>C (n.1577+1G>C)
c.1346+1G>C (n.1346+1G>C)
c.1271+1G>C (n.1271+1G>C)
c.1268+1G>C (n.1268+1G>C)
c.2114+1G>C (n.2114+1G>C)
c.1580+1G>C (n.1580+1G>C)
c.1661+1G>C (n.1661+1G>C)
c.2099+1G>C (n.2099+1G>C)
n.2269+1G>C
c.1232+1G>C (n.1232+1G>C)
n.2141+1G>C
14g.88610941G>TCA390566518ZC3H14c.2204+1G>T (n.2204+1G>T)
c.*1412+1G>T (n.*1412+1G>T)
c.1733+1G>T (n.1733+1G>T)
c.914+1G>T (n.914+1G>T)
c.1709+1G>T (n.1709+1G>T)
c.2129+1G>T (n.2129+1G>T)
c.842+1G>T (n.842+1G>T)
n.1047+1G>T
c.2186+1G>T (n.2186+1G>T)
c.449+1G>T (n.449+1G>T)
n.363+1G>T
c.1310+1G>T (n.1310+1G>T)
c.1948+1G>T
c.1811+1G>T (n.1811+1G>T)
n.1489+1G>T
c.1256+1G>T (n.1256+1G>T)
c.2201+1G>T (n.2201+1G>T)
c.2189+1G>T (n.2189+1G>T)
c.1808+1G>T (n.1808+1G>T)
c.1736+1G>T (n.1736+1G>T)
c.1235+1G>T (n.1235+1G>T)
c.2102+1G>T (n.2102+1G>T)
c.2048+1G>T (n.2048+1G>T)
c.2126+1G>T (n.2126+1G>T)
c.2111+1G>T (n.2111+1G>T)
c.1739+1G>T (n.1739+1G>T)
c.2027+1G>T (n.2027+1G>T)
c.1631+1G>T (n.1631+1G>T)
c.1343+1G>T (n.1343+1G>T)
c.1664+1G>T (n.1664+1G>T)
c.1577+1G>T (n.1577+1G>T)
c.1346+1G>T (n.1346+1G>T)
c.1271+1G>T (n.1271+1G>T)
c.1268+1G>T (n.1268+1G>T)
c.2114+1G>T (n.2114+1G>T)
c.1580+1G>T (n.1580+1G>T)
c.1661+1G>T (n.1661+1G>T)
c.2099+1G>T (n.2099+1G>T)
n.2269+1G>T
c.1232+1G>T (n.1232+1G>T)
n.2141+1G>T
14g.88610942T>ACA390566525ZC3H14c.2204+2T>A (n.2204+2T>A)
c.*1412+2T>A (n.*1412+2T>A)
c.1733+2T>A (n.1733+2T>A)
c.914+2T>A (n.914+2T>A)
c.1709+2T>A (n.1709+2T>A)
c.2129+2T>A (n.2129+2T>A)
c.842+2T>A (n.842+2T>A)
n.1047+2T>A
c.2186+2T>A (n.2186+2T>A)
c.449+2T>A (n.449+2T>A)
n.363+2T>A
c.1310+2T>A (n.1310+2T>A)
c.1948+2T>A
c.1811+2T>A (n.1811+2T>A)
n.1489+2T>A
c.1256+2T>A (n.1256+2T>A)
c.2201+2T>A (n.2201+2T>A)
c.2189+2T>A (n.2189+2T>A)
c.1808+2T>A (n.1808+2T>A)
c.1736+2T>A (n.1736+2T>A)
c.1235+2T>A (n.1235+2T>A)
c.2102+2T>A (n.2102+2T>A)
c.2048+2T>A (n.2048+2T>A)
c.2126+2T>A (n.2126+2T>A)
c.2111+2T>A (n.2111+2T>A)
c.1739+2T>A (n.1739+2T>A)
c.2027+2T>A (n.2027+2T>A)
c.1631+2T>A (n.1631+2T>A)
c.1343+2T>A (n.1343+2T>A)
c.1664+2T>A (n.1664+2T>A)
c.1577+2T>A (n.1577+2T>A)
c.1346+2T>A (n.1346+2T>A)
c.1271+2T>A (n.1271+2T>A)
c.1268+2T>A (n.1268+2T>A)
c.2114+2T>A (n.2114+2T>A)
c.1580+2T>A (n.1580+2T>A)
c.1661+2T>A (n.1661+2T>A)
c.2099+2T>A (n.2099+2T>A)
n.2269+2T>A
c.1232+2T>A (n.1232+2T>A)
n.2141+2T>A
14g.88610942T>CCA390566530ZC3H14c.2204+2T>C (n.2204+2T>C)
c.*1412+2T>C (n.*1412+2T>C)
c.1733+2T>C (n.1733+2T>C)
c.914+2T>C (n.914+2T>C)
c.1709+2T>C (n.1709+2T>C)
c.2129+2T>C (n.2129+2T>C)
c.842+2T>C (n.842+2T>C)
n.1047+2T>C
c.2186+2T>C (n.2186+2T>C)
c.449+2T>C (n.449+2T>C)
n.363+2T>C
c.1310+2T>C (n.1310+2T>C)
c.1948+2T>C
c.1811+2T>C (n.1811+2T>C)
n.1489+2T>C
c.1256+2T>C (n.1256+2T>C)
c.2201+2T>C (n.2201+2T>C)
c.2189+2T>C (n.2189+2T>C)
c.1808+2T>C (n.1808+2T>C)
c.1736+2T>C (n.1736+2T>C)
c.1235+2T>C (n.1235+2T>C)
c.2102+2T>C (n.2102+2T>C)
c.2048+2T>C (n.2048+2T>C)
c.2126+2T>C (n.2126+2T>C)
c.2111+2T>C (n.2111+2T>C)
c.1739+2T>C (n.1739+2T>C)
c.2027+2T>C (n.2027+2T>C)
c.1631+2T>C (n.1631+2T>C)
c.1343+2T>C (n.1343+2T>C)
c.1664+2T>C (n.1664+2T>C)
c.1577+2T>C (n.1577+2T>C)
c.1346+2T>C (n.1346+2T>C)
c.1271+2T>C (n.1271+2T>C)
c.1268+2T>C (n.1268+2T>C)
c.2114+2T>C (n.2114+2T>C)
c.1580+2T>C (n.1580+2T>C)
c.1661+2T>C (n.1661+2T>C)
c.2099+2T>C (n.2099+2T>C)
n.2269+2T>C
c.1232+2T>C (n.1232+2T>C)
n.2141+2T>C
14g.88610942T>GCA390566527ZC3H14c.2204+2T>G (n.2204+2T>G)
c.*1412+2T>G (n.*1412+2T>G)
c.1733+2T>G (n.1733+2T>G)
c.914+2T>G (n.914+2T>G)
c.1709+2T>G (n.1709+2T>G)
c.2129+2T>G (n.2129+2T>G)
c.842+2T>G (n.842+2T>G)
n.1047+2T>G
c.2186+2T>G (n.2186+2T>G)
c.449+2T>G (n.449+2T>G)
n.363+2T>G
c.1310+2T>G (n.1310+2T>G)
c.1948+2T>G
c.1811+2T>G (n.1811+2T>G)
n.1489+2T>G
c.1256+2T>G (n.1256+2T>G)
c.2201+2T>G (n.2201+2T>G)
c.2189+2T>G (n.2189+2T>G)
c.1808+2T>G (n.1808+2T>G)
c.1736+2T>G (n.1736+2T>G)
c.1235+2T>G (n.1235+2T>G)
c.2102+2T>G (n.2102+2T>G)
c.2048+2T>G (n.2048+2T>G)
c.2126+2T>G (n.2126+2T>G)
c.2111+2T>G (n.2111+2T>G)
c.1739+2T>G (n.1739+2T>G)
c.2027+2T>G (n.2027+2T>G)
c.1631+2T>G (n.1631+2T>G)
c.1343+2T>G (n.1343+2T>G)
c.1664+2T>G (n.1664+2T>G)
c.1577+2T>G (n.1577+2T>G)
c.1346+2T>G (n.1346+2T>G)
c.1271+2T>G (n.1271+2T>G)
c.1268+2T>G (n.1268+2T>G)
c.2114+2T>G (n.2114+2T>G)
c.1580+2T>G (n.1580+2T>G)
c.1661+2T>G (n.1661+2T>G)
c.2099+2T>G (n.2099+2T>G)
n.2269+2T>G
c.1232+2T>G (n.1232+2T>G)
n.2141+2T>G
14g.88610942_88610943insCCTGCCTGGCAGAAGATCATGCAGTTTGGCA2730181072ZC3H14c.2204+2_2204+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.2204+2_2204+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.*1412+2_*1412+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.*1412+2_*1412+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.1733+2_1733+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.1733+2_1733+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.914+2_914+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.914+2_914+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.1709+2_1709+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.1709+2_1709+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.2129+2_2129+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.2129+2_2129+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.842+2_842+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.842+2_842+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
n.1047+2_1047+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG
c.2186+2_2186+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.2186+2_2186+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.449+2_449+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.449+2_449+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
n.363+2_363+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG
c.1310+2_1310+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.1310+2_1310+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.1948+2_1948+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG
c.1811+2_1811+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.1811+2_1811+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
n.1489+2_1489+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG
c.1256+2_1256+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.1256+2_1256+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.2201+2_2201+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.2201+2_2201+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.2189+2_2189+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.2189+2_2189+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.1808+2_1808+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.1808+2_1808+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.1736+2_1736+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.1736+2_1736+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.1235+2_1235+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.1235+2_1235+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.2102+2_2102+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.2102+2_2102+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.2048+2_2048+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.2048+2_2048+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.2126+2_2126+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.2126+2_2126+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.2111+2_2111+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.2111+2_2111+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.1739+2_1739+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.1739+2_1739+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.2027+2_2027+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.2027+2_2027+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.1631+2_1631+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.1631+2_1631+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.1343+2_1343+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.1343+2_1343+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.1664+2_1664+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.1664+2_1664+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.1577+2_1577+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.1577+2_1577+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.1346+2_1346+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.1346+2_1346+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.1271+2_1271+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.1271+2_1271+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.1268+2_1268+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.1268+2_1268+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.2114+2_2114+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.2114+2_2114+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.1580+2_1580+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.1580+2_1580+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.1661+2_1661+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.1661+2_1661+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
c.2099+2_2099+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.2099+2_2099+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
n.2269+2_2269+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG
c.1232+2_1232+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG (n.1232+2_1232+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG)
n.2141+2_2141+3insCCTGCCTGGCAGAAGATCATGCAGTTTGG
 dbSNP
14g.88610943A>GCA2626010435ZC3H14c.2204+3A>G (n.2204+3A>G)
c.*1412+3A>G (n.*1412+3A>G)
c.1733+3A>G (n.1733+3A>G)
c.914+3A>G (n.914+3A>G)
c.1709+3A>G (n.1709+3A>G)
c.2129+3A>G (n.2129+3A>G)
c.842+3A>G (n.842+3A>G)
n.1047+3A>G
c.2186+3A>G (n.2186+3A>G)
c.449+3A>G (n.449+3A>G)
n.363+3A>G
c.1310+3A>G (n.1310+3A>G)
c.1948+3A>G
c.1811+3A>G (n.1811+3A>G)
n.1489+3A>G
c.1256+3A>G (n.1256+3A>G)
c.2201+3A>G (n.2201+3A>G)
c.2189+3A>G (n.2189+3A>G)
c.1808+3A>G (n.1808+3A>G)
c.1736+3A>G (n.1736+3A>G)
c.1235+3A>G (n.1235+3A>G)
c.2102+3A>G (n.2102+3A>G)
c.2048+3A>G (n.2048+3A>G)
c.2126+3A>G (n.2126+3A>G)
c.2111+3A>G (n.2111+3A>G)
c.1739+3A>G (n.1739+3A>G)
c.2027+3A>G (n.2027+3A>G)
c.1631+3A>G (n.1631+3A>G)
c.1343+3A>G (n.1343+3A>G)
c.1664+3A>G (n.1664+3A>G)
c.1577+3A>G (n.1577+3A>G)
c.1346+3A>G (n.1346+3A>G)
c.1271+3A>G (n.1271+3A>G)
c.1268+3A>G (n.1268+3A>G)
c.2114+3A>G (n.2114+3A>G)
c.1580+3A>G (n.1580+3A>G)
c.1661+3A>G (n.1661+3A>G)
c.2099+3A>G (n.2099+3A>G)
n.2269+3A>G
c.1232+3A>G (n.1232+3A>G)
n.2141+3A>G
 gnomAD v4
14g.88610944A=CA2153694423ZC3H14c.2204+4A= (n.2204+4A=)
c.*1412+4A= (n.*1412+4A=)
c.1733+4A= (n.1733+4A=)
c.914+4A= (n.914+4A=)
c.1709+4A= (n.1709+4A=)
c.2129+4A= (n.2129+4A=)
c.842+4A= (n.842+4A=)
n.1047+4A=
c.2186+4A= (n.2186+4A=)
c.449+4A= (n.449+4A=)
n.363+4A=
c.1310+4A= (n.1310+4A=)
c.1948+4A=
c.1811+4A= (n.1811+4A=)
n.1489+4A=
c.1256+4A= (n.1256+4A=)
c.2201+4A= (n.2201+4A=)
c.2189+4A= (n.2189+4A=)
c.1808+4A= (n.1808+4A=)
c.1736+4A= (n.1736+4A=)
c.1235+4A= (n.1235+4A=)
c.2102+4A= (n.2102+4A=)
c.2048+4A= (n.2048+4A=)
c.2126+4A= (n.2126+4A=)
c.2111+4A= (n.2111+4A=)
c.1739+4A= (n.1739+4A=)
c.2027+4A= (n.2027+4A=)
c.1631+4A= (n.1631+4A=)
c.1343+4A= (n.1343+4A=)
c.1664+4A= (n.1664+4A=)
c.1577+4A= (n.1577+4A=)
c.1346+4A= (n.1346+4A=)
c.1271+4A= (n.1271+4A=)
c.1268+4A= (n.1268+4A=)
c.2114+4A= (n.2114+4A=)
c.1580+4A= (n.1580+4A=)
c.1661+4A= (n.1661+4A=)
c.2099+4A= (n.2099+4A=)
n.2269+4A=
c.1232+4A= (n.1232+4A=)
n.2141+4A=
14g.88610944A>CCA7300791ZC3H14c.2204+4A>C (n.2204+4A>C)
c.*1412+4A>C (n.*1412+4A>C)
c.1733+4A>C (n.1733+4A>C)
c.914+4A>C (n.914+4A>C)
c.1709+4A>C (n.1709+4A>C)
c.2129+4A>C (n.2129+4A>C)
c.842+4A>C (n.842+4A>C)
n.1047+4A>C
c.2186+4A>C (n.2186+4A>C)
c.449+4A>C (n.449+4A>C)
n.363+4A>C
c.1310+4A>C (n.1310+4A>C)
c.1948+4A>C
c.1811+4A>C (n.1811+4A>C)
n.1489+4A>C
c.1256+4A>C (n.1256+4A>C)
c.2201+4A>C (n.2201+4A>C)
c.2189+4A>C (n.2189+4A>C)
c.1808+4A>C (n.1808+4A>C)
c.1736+4A>C (n.1736+4A>C)
c.1235+4A>C (n.1235+4A>C)
c.2102+4A>C (n.2102+4A>C)
c.2048+4A>C (n.2048+4A>C)
c.2126+4A>C (n.2126+4A>C)
c.2111+4A>C (n.2111+4A>C)
c.1739+4A>C (n.1739+4A>C)
c.2027+4A>C (n.2027+4A>C)
c.1631+4A>C (n.1631+4A>C)
c.1343+4A>C (n.1343+4A>C)
c.1664+4A>C (n.1664+4A>C)
c.1577+4A>C (n.1577+4A>C)
c.1346+4A>C (n.1346+4A>C)
c.1271+4A>C (n.1271+4A>C)
c.1268+4A>C (n.1268+4A>C)
c.2114+4A>C (n.2114+4A>C)
c.1580+4A>C (n.1580+4A>C)
c.1661+4A>C (n.1661+4A>C)
c.2099+4A>C (n.2099+4A>C)
n.2269+4A>C
c.1232+4A>C (n.1232+4A>C)
n.2141+4A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.88610944A>TCA7300793ZC3H14c.2204+4A>T (n.2204+4A>T)
c.*1412+4A>T (n.*1412+4A>T)
c.1733+4A>T (n.1733+4A>T)
c.914+4A>T (n.914+4A>T)
c.1709+4A>T (n.1709+4A>T)
c.2129+4A>T (n.2129+4A>T)
c.842+4A>T (n.842+4A>T)
n.1047+4A>T
c.2186+4A>T (n.2186+4A>T)
c.449+4A>T (n.449+4A>T)
n.363+4A>T
c.1310+4A>T (n.1310+4A>T)
c.1948+4A>T
c.1811+4A>T (n.1811+4A>T)
n.1489+4A>T
c.1256+4A>T (n.1256+4A>T)
c.2201+4A>T (n.2201+4A>T)
c.2189+4A>T (n.2189+4A>T)
c.1808+4A>T (n.1808+4A>T)
c.1736+4A>T (n.1736+4A>T)
c.1235+4A>T (n.1235+4A>T)
c.2102+4A>T (n.2102+4A>T)
c.2048+4A>T (n.2048+4A>T)
c.2126+4A>T (n.2126+4A>T)
c.2111+4A>T (n.2111+4A>T)
c.1739+4A>T (n.1739+4A>T)
c.2027+4A>T (n.2027+4A>T)
c.1631+4A>T (n.1631+4A>T)
c.1343+4A>T (n.1343+4A>T)
c.1664+4A>T (n.1664+4A>T)
c.1577+4A>T (n.1577+4A>T)
c.1346+4A>T (n.1346+4A>T)
c.1271+4A>T (n.1271+4A>T)
c.1268+4A>T (n.1268+4A>T)
c.2114+4A>T (n.2114+4A>T)
c.1580+4A>T (n.1580+4A>T)
c.1661+4A>T (n.1661+4A>T)
c.2099+4A>T (n.2099+4A>T)
n.2269+4A>T
c.1232+4A>T (n.1232+4A>T)
n.2141+4A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.88610944_88610949delinsAACATTCA2153694424ZC3H14c.2204+4_2204+9delinsAACATT (n.2204+4_2204+9delinsAACATT)
c.*1412+4_*1412+9delinsAACATT (n.*1412+4_*1412+9delinsAACATT)
c.1733+4_1733+9delinsAACATT (n.1733+4_1733+9delinsAACATT)
c.914+4_914+9delinsAACATT (n.914+4_914+9delinsAACATT)
c.1709+4_1709+9delinsAACATT (n.1709+4_1709+9delinsAACATT)
c.2129+4_2129+9delinsAACATT (n.2129+4_2129+9delinsAACATT)
c.842+4_842+9delinsAACATT (n.842+4_842+9delinsAACATT)
n.1047+4_1047+9delinsAACATT
c.2186+4_2186+9delinsAACATT (n.2186+4_2186+9delinsAACATT)
c.449+4_449+9delinsAACATT (n.449+4_449+9delinsAACATT)
n.363+4_363+9delinsAACATT
c.1310+4_1310+9delinsAACATT (n.1310+4_1310+9delinsAACATT)
c.1948+4_1948+9delinsAACATT
c.1811+4_1811+9delinsAACATT (n.1811+4_1811+9delinsAACATT)
n.1489+4_1489+9delinsAACATT
c.1256+4_1256+9delinsAACATT (n.1256+4_1256+9delinsAACATT)
c.2201+4_2201+9delinsAACATT (n.2201+4_2201+9delinsAACATT)
c.2189+4_2189+9delinsAACATT (n.2189+4_2189+9delinsAACATT)
c.1808+4_1808+9delinsAACATT (n.1808+4_1808+9delinsAACATT)
c.1736+4_1736+9delinsAACATT (n.1736+4_1736+9delinsAACATT)
c.1235+4_1235+9delinsAACATT (n.1235+4_1235+9delinsAACATT)
c.2102+4_2102+9delinsAACATT (n.2102+4_2102+9delinsAACATT)
c.2048+4_2048+9delinsAACATT (n.2048+4_2048+9delinsAACATT)
c.2126+4_2126+9delinsAACATT (n.2126+4_2126+9delinsAACATT)
c.2111+4_2111+9delinsAACATT (n.2111+4_2111+9delinsAACATT)
c.1739+4_1739+9delinsAACATT (n.1739+4_1739+9delinsAACATT)
c.2027+4_2027+9delinsAACATT (n.2027+4_2027+9delinsAACATT)
c.1631+4_1631+9delinsAACATT (n.1631+4_1631+9delinsAACATT)
c.1343+4_1343+9delinsAACATT (n.1343+4_1343+9delinsAACATT)
c.1664+4_1664+9delinsAACATT (n.1664+4_1664+9delinsAACATT)
c.1577+4_1577+9delinsAACATT (n.1577+4_1577+9delinsAACATT)
c.1346+4_1346+9delinsAACATT (n.1346+4_1346+9delinsAACATT)
c.1271+4_1271+9delinsAACATT (n.1271+4_1271+9delinsAACATT)
c.1268+4_1268+9delinsAACATT (n.1268+4_1268+9delinsAACATT)
c.2114+4_2114+9delinsAACATT (n.2114+4_2114+9delinsAACATT)
c.1580+4_1580+9delinsAACATT (n.1580+4_1580+9delinsAACATT)
c.1661+4_1661+9delinsAACATT (n.1661+4_1661+9delinsAACATT)
c.2099+4_2099+9delinsAACATT (n.2099+4_2099+9delinsAACATT)
n.2269+4_2269+9delinsAACATT
c.1232+4_1232+9delinsAACATT (n.1232+4_1232+9delinsAACATT)
n.2141+4_2141+9delinsAACATT
14g.88610944_88610945insCACACCCAACCA2802509658ZC3H14c.2204+4_2204+5insCACACCCAAC (n.2204+4_2204+5insCACACCCAAC)
c.*1412+4_*1412+5insCACACCCAAC (n.*1412+4_*1412+5insCACACCCAAC)
c.1733+4_1733+5insCACACCCAAC (n.1733+4_1733+5insCACACCCAAC)
c.914+4_914+5insCACACCCAAC (n.914+4_914+5insCACACCCAAC)
c.1709+4_1709+5insCACACCCAAC (n.1709+4_1709+5insCACACCCAAC)
c.2129+4_2129+5insCACACCCAAC (n.2129+4_2129+5insCACACCCAAC)
c.842+4_842+5insCACACCCAAC (n.842+4_842+5insCACACCCAAC)
n.1047+4_1047+5insCACACCCAAC
c.2186+4_2186+5insCACACCCAAC (n.2186+4_2186+5insCACACCCAAC)
c.449+4_449+5insCACACCCAAC (n.449+4_449+5insCACACCCAAC)
n.363+4_363+5insCACACCCAAC
c.1310+4_1310+5insCACACCCAAC (n.1310+4_1310+5insCACACCCAAC)
c.1948+4_1948+5insCACACCCAAC
c.1811+4_1811+5insCACACCCAAC (n.1811+4_1811+5insCACACCCAAC)
n.1489+4_1489+5insCACACCCAAC
c.1256+4_1256+5insCACACCCAAC (n.1256+4_1256+5insCACACCCAAC)
c.2201+4_2201+5insCACACCCAAC (n.2201+4_2201+5insCACACCCAAC)
c.2189+4_2189+5insCACACCCAAC (n.2189+4_2189+5insCACACCCAAC)
c.1808+4_1808+5insCACACCCAAC (n.1808+4_1808+5insCACACCCAAC)
c.1736+4_1736+5insCACACCCAAC (n.1736+4_1736+5insCACACCCAAC)
c.1235+4_1235+5insCACACCCAAC (n.1235+4_1235+5insCACACCCAAC)
c.2102+4_2102+5insCACACCCAAC (n.2102+4_2102+5insCACACCCAAC)
c.2048+4_2048+5insCACACCCAAC (n.2048+4_2048+5insCACACCCAAC)
c.2126+4_2126+5insCACACCCAAC (n.2126+4_2126+5insCACACCCAAC)
c.2111+4_2111+5insCACACCCAAC (n.2111+4_2111+5insCACACCCAAC)
c.1739+4_1739+5insCACACCCAAC (n.1739+4_1739+5insCACACCCAAC)
c.2027+4_2027+5insCACACCCAAC (n.2027+4_2027+5insCACACCCAAC)
c.1631+4_1631+5insCACACCCAAC (n.1631+4_1631+5insCACACCCAAC)
c.1343+4_1343+5insCACACCCAAC (n.1343+4_1343+5insCACACCCAAC)
c.1664+4_1664+5insCACACCCAAC (n.1664+4_1664+5insCACACCCAAC)
c.1577+4_1577+5insCACACCCAAC (n.1577+4_1577+5insCACACCCAAC)
c.1346+4_1346+5insCACACCCAAC (n.1346+4_1346+5insCACACCCAAC)
c.1271+4_1271+5insCACACCCAAC (n.1271+4_1271+5insCACACCCAAC)
c.1268+4_1268+5insCACACCCAAC (n.1268+4_1268+5insCACACCCAAC)
c.2114+4_2114+5insCACACCCAAC (n.2114+4_2114+5insCACACCCAAC)
c.1580+4_1580+5insCACACCCAAC (n.1580+4_1580+5insCACACCCAAC)
c.1661+4_1661+5insCACACCCAAC (n.1661+4_1661+5insCACACCCAAC)
c.2099+4_2099+5insCACACCCAAC (n.2099+4_2099+5insCACACCCAAC)
n.2269+4_2269+5insCACACCCAAC
c.1232+4_1232+5insCACACCCAAC (n.1232+4_1232+5insCACACCCAAC)
n.2141+4_2141+5insCACACCCAAC
14g.88610945_88610949delCA7300792ZC3H14c.2204+5_2204+9del (n.2204+5_2204+9del)
c.*1412+5_*1412+9del (n.*1412+5_*1412+9del)
c.1733+5_1733+9del (n.1733+5_1733+9del)
c.914+5_914+9del (n.914+5_914+9del)
c.1709+5_1709+9del (n.1709+5_1709+9del)
c.2129+5_2129+9del (n.2129+5_2129+9del)
c.842+5_842+9del (n.842+5_842+9del)
n.1047+5_1047+9del
c.2186+5_2186+9del (n.2186+5_2186+9del)
c.449+5_449+9del (n.449+5_449+9del)
n.363+5_363+9del
c.1310+5_1310+9del (n.1310+5_1310+9del)
c.1948+5_1948+9del
c.1811+5_1811+9del (n.1811+5_1811+9del)
n.1489+5_1489+9del
c.1256+5_1256+9del (n.1256+5_1256+9del)
c.2201+5_2201+9del (n.2201+5_2201+9del)
c.2189+5_2189+9del (n.2189+5_2189+9del)
c.1808+5_1808+9del (n.1808+5_1808+9del)
c.1736+5_1736+9del (n.1736+5_1736+9del)
c.1235+5_1235+9del (n.1235+5_1235+9del)
c.2102+5_2102+9del (n.2102+5_2102+9del)
c.2048+5_2048+9del (n.2048+5_2048+9del)
c.2126+5_2126+9del (n.2126+5_2126+9del)
c.2111+5_2111+9del (n.2111+5_2111+9del)
c.1739+5_1739+9del (n.1739+5_1739+9del)
c.2027+5_2027+9del (n.2027+5_2027+9del)
c.1631+5_1631+9del (n.1631+5_1631+9del)
c.1343+5_1343+9del (n.1343+5_1343+9del)
c.1664+5_1664+9del (n.1664+5_1664+9del)
c.1577+5_1577+9del (n.1577+5_1577+9del)
c.1346+5_1346+9del (n.1346+5_1346+9del)
c.1271+5_1271+9del (n.1271+5_1271+9del)
c.1268+5_1268+9del (n.1268+5_1268+9del)
c.2114+5_2114+9del (n.2114+5_2114+9del)
c.1580+5_1580+9del (n.1580+5_1580+9del)
c.1661+5_1661+9del (n.1661+5_1661+9del)
c.2099+5_2099+9del (n.2099+5_2099+9del)
n.2269+5_2269+9del
c.1232+5_1232+9del (n.1232+5_1232+9del)
n.2141+5_2141+9del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.88610947A=CA2153694426ZC3H14c.2204+7A= (n.2204+7A=)
c.*1412+7A= (n.*1412+7A=)
c.1733+7A= (n.1733+7A=)
c.914+7A= (n.914+7A=)
c.1709+7A= (n.1709+7A=)
c.2129+7A= (n.2129+7A=)
c.842+7A= (n.842+7A=)
n.1047+7A=
c.2186+7A= (n.2186+7A=)
c.449+7A= (n.449+7A=)
n.363+7A=
c.1310+7A= (n.1310+7A=)
c.1948+7A=
c.1811+7A= (n.1811+7A=)
n.1489+7A=
c.1256+7A= (n.1256+7A=)
c.2201+7A= (n.2201+7A=)
c.2189+7A= (n.2189+7A=)
c.1808+7A= (n.1808+7A=)
c.1736+7A= (n.1736+7A=)
c.1235+7A= (n.1235+7A=)
c.2102+7A= (n.2102+7A=)
c.2048+7A= (n.2048+7A=)
c.2126+7A= (n.2126+7A=)
c.2111+7A= (n.2111+7A=)
c.1739+7A= (n.1739+7A=)
c.2027+7A= (n.2027+7A=)
c.1631+7A= (n.1631+7A=)
c.1343+7A= (n.1343+7A=)
c.1664+7A= (n.1664+7A=)
c.1577+7A= (n.1577+7A=)
c.1346+7A= (n.1346+7A=)
c.1271+7A= (n.1271+7A=)
c.1268+7A= (n.1268+7A=)
c.2114+7A= (n.2114+7A=)
c.1580+7A= (n.1580+7A=)
c.1661+7A= (n.1661+7A=)
c.2099+7A= (n.2099+7A=)
n.2269+7A=
c.1232+7A= (n.1232+7A=)
n.2141+7A=
14g.88610947A>GCA615678670ZC3H14c.2204+7A>G (n.2204+7A>G)
c.*1412+7A>G (n.*1412+7A>G)
c.1733+7A>G (n.1733+7A>G)
c.914+7A>G (n.914+7A>G)
c.1709+7A>G (n.1709+7A>G)
c.2129+7A>G (n.2129+7A>G)
c.842+7A>G (n.842+7A>G)
n.1047+7A>G
c.2186+7A>G (n.2186+7A>G)
c.449+7A>G (n.449+7A>G)
n.363+7A>G
c.1310+7A>G (n.1310+7A>G)
c.1948+7A>G
c.1811+7A>G (n.1811+7A>G)
n.1489+7A>G
c.1256+7A>G (n.1256+7A>G)
c.2201+7A>G (n.2201+7A>G)
c.2189+7A>G (n.2189+7A>G)
c.1808+7A>G (n.1808+7A>G)
c.1736+7A>G (n.1736+7A>G)
c.1235+7A>G (n.1235+7A>G)
c.2102+7A>G (n.2102+7A>G)
c.2048+7A>G (n.2048+7A>G)
c.2126+7A>G (n.2126+7A>G)
c.2111+7A>G (n.2111+7A>G)
c.1739+7A>G (n.1739+7A>G)
c.2027+7A>G (n.2027+7A>G)
c.1631+7A>G (n.1631+7A>G)
c.1343+7A>G (n.1343+7A>G)
c.1664+7A>G (n.1664+7A>G)
c.1577+7A>G (n.1577+7A>G)
c.1346+7A>G (n.1346+7A>G)
c.1271+7A>G (n.1271+7A>G)
c.1268+7A>G (n.1268+7A>G)
c.2114+7A>G (n.2114+7A>G)
c.1580+7A>G (n.1580+7A>G)
c.1661+7A>G (n.1661+7A>G)
c.2099+7A>G (n.2099+7A>G)
n.2269+7A>G
c.1232+7A>G (n.1232+7A>G)
n.2141+7A>G
 dbSNP gnomAD v2 gnomAD v4
14g.88610947_88610972delinsATTCAAATTCGTTTTTCTCATGTCAGCA2153694425ZC3H14c.2204+7_2204+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.2204+7_2204+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.*1412+7_*1412+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.*1412+7_*1412+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.1733+7_1733+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.1733+7_1733+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.914+7_914+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.914+7_914+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.1709+7_1709+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.1709+7_1709+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.2129+7_2129+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.2129+7_2129+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.842+7_842+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.842+7_842+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
n.1047+7_1047+32delinsATTCAAATTCGTTTTTCTCATGTCAG
c.2186+7_2186+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.2186+7_2186+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.449+7_449+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.449+7_449+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
n.363+7_363+32delinsATTCAAATTCGTTTTTCTCATGTCAG
c.1310+7_1310+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.1310+7_1310+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.1948+7_1948+32delinsATTCAAATTCGTTTTTCTCATGTCAG
c.1811+7_1811+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.1811+7_1811+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
n.1489+7_1489+32delinsATTCAAATTCGTTTTTCTCATGTCAG
c.1256+7_1256+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.1256+7_1256+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.2201+7_2201+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.2201+7_2201+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.2189+7_2189+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.2189+7_2189+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.1808+7_1808+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.1808+7_1808+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.1736+7_1736+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.1736+7_1736+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.1235+7_1235+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.1235+7_1235+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.2102+7_2102+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.2102+7_2102+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.2048+7_2048+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.2048+7_2048+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.2126+7_2126+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.2126+7_2126+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.2111+7_2111+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.2111+7_2111+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.1739+7_1739+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.1739+7_1739+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.2027+7_2027+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.2027+7_2027+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.1631+7_1631+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.1631+7_1631+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.1343+7_1343+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.1343+7_1343+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.1664+7_1664+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.1664+7_1664+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.1577+7_1577+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.1577+7_1577+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.1346+7_1346+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.1346+7_1346+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.1271+7_1271+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.1271+7_1271+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.1268+7_1268+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.1268+7_1268+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.2114+7_2114+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.2114+7_2114+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.1580+7_1580+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.1580+7_1580+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.1661+7_1661+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.1661+7_1661+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
c.2099+7_2099+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.2099+7_2099+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
n.2269+7_2269+32delinsATTCAAATTCGTTTTTCTCATGTCAG
c.1232+7_1232+32delinsATTCAAATTCGTTTTTCTCATGTCAG (n.1232+7_1232+32delinsATTCAAATTCGTTTTTCTCATGTCAG)
n.2141+7_2141+32delinsATTCAAATTCGTTTTTCTCATGTCAG
14g.88610948T>CCA2153694428ZC3H14c.2204+8T>C (n.2204+8T>C)
c.*1412+8T>C (n.*1412+8T>C)
c.1733+8T>C (n.1733+8T>C)
c.914+8T>C (n.914+8T>C)
c.1709+8T>C (n.1709+8T>C)
c.2129+8T>C (n.2129+8T>C)
c.842+8T>C (n.842+8T>C)
n.1047+8T>C
c.2186+8T>C (n.2186+8T>C)
c.449+8T>C (n.449+8T>C)
n.363+8T>C
c.1310+8T>C (n.1310+8T>C)
c.1948+8T>C
c.1811+8T>C (n.1811+8T>C)
n.1489+8T>C
c.1256+8T>C (n.1256+8T>C)
c.2201+8T>C (n.2201+8T>C)
c.2189+8T>C (n.2189+8T>C)
c.1808+8T>C (n.1808+8T>C)
c.1736+8T>C (n.1736+8T>C)
c.1235+8T>C (n.1235+8T>C)
c.2102+8T>C (n.2102+8T>C)
c.2048+8T>C (n.2048+8T>C)
c.2126+8T>C (n.2126+8T>C)
c.2111+8T>C (n.2111+8T>C)
c.1739+8T>C (n.1739+8T>C)
c.2027+8T>C (n.2027+8T>C)
c.1631+8T>C (n.1631+8T>C)
c.1343+8T>C (n.1343+8T>C)
c.1664+8T>C (n.1664+8T>C)
c.1577+8T>C (n.1577+8T>C)
c.1346+8T>C (n.1346+8T>C)
c.1271+8T>C (n.1271+8T>C)
c.1268+8T>C (n.1268+8T>C)
c.2114+8T>C (n.2114+8T>C)
c.1580+8T>C (n.1580+8T>C)
c.1661+8T>C (n.1661+8T>C)
c.2099+8T>C (n.2099+8T>C)
n.2269+8T>C
c.1232+8T>C (n.1232+8T>C)
n.2141+8T>C
 dbSNP
14g.88610948T=CA2153694427ZC3H14c.2204+8T= (n.2204+8T=)
c.*1412+8T= (n.*1412+8T=)
c.1733+8T= (n.1733+8T=)
c.914+8T= (n.914+8T=)
c.1709+8T= (n.1709+8T=)
c.2129+8T= (n.2129+8T=)
c.842+8T= (n.842+8T=)
n.1047+8T=
c.2186+8T= (n.2186+8T=)
c.449+8T= (n.449+8T=)
n.363+8T=
c.1310+8T= (n.1310+8T=)
c.1948+8T=
c.1811+8T= (n.1811+8T=)
n.1489+8T=
c.1256+8T= (n.1256+8T=)
c.2201+8T= (n.2201+8T=)
c.2189+8T= (n.2189+8T=)
c.1808+8T= (n.1808+8T=)
c.1736+8T= (n.1736+8T=)
c.1235+8T= (n.1235+8T=)
c.2102+8T= (n.2102+8T=)
c.2048+8T= (n.2048+8T=)
c.2126+8T= (n.2126+8T=)
c.2111+8T= (n.2111+8T=)
c.1739+8T= (n.1739+8T=)
c.2027+8T= (n.2027+8T=)
c.1631+8T= (n.1631+8T=)
c.1343+8T= (n.1343+8T=)
c.1664+8T= (n.1664+8T=)
c.1577+8T= (n.1577+8T=)
c.1346+8T= (n.1346+8T=)
c.1271+8T= (n.1271+8T=)
c.1268+8T= (n.1268+8T=)
c.2114+8T= (n.2114+8T=)
c.1580+8T= (n.1580+8T=)
c.1661+8T= (n.1661+8T=)
c.2099+8T= (n.2099+8T=)
n.2269+8T=
c.1232+8T= (n.1232+8T=)
n.2141+8T=
14g.88610957_88610981dupCA2729866487ZC3H14c.2204+17_2204+41dup (n.2204+17_2204+41dup)
c.*1412+17_*1412+41dup (n.*1412+17_*1412+41dup)
c.1733+17_1733+41dup (n.1733+17_1733+41dup)
c.914+17_914+41dup (n.914+17_914+41dup)
c.1709+17_1709+41dup (n.1709+17_1709+41dup)
c.2129+17_2129+41dup (n.2129+17_2129+41dup)
c.842+17_842+41dup (n.842+17_842+41dup)
n.1047+17_1047+41dup
c.2186+17_2186+41dup (n.2186+17_2186+41dup)
c.449+17_449+41dup (n.449+17_449+41dup)
n.363+17_363+41dup
c.1310+17_1310+41dup (n.1310+17_1310+41dup)
c.1948+17_1948+41dup
c.1811+17_1811+41dup (n.1811+17_1811+41dup)
n.1489+17_1489+41dup
c.1256+17_1256+41dup (n.1256+17_1256+41dup)
c.2201+17_2201+41dup (n.2201+17_2201+41dup)
c.2189+17_2189+41dup (n.2189+17_2189+41dup)
c.1808+17_1808+41dup (n.1808+17_1808+41dup)
c.1736+17_1736+41dup (n.1736+17_1736+41dup)
c.1235+17_1235+41dup (n.1235+17_1235+41dup)
c.2102+17_2102+41dup (n.2102+17_2102+41dup)
c.2048+17_2048+41dup (n.2048+17_2048+41dup)
c.2126+17_2126+41dup (n.2126+17_2126+41dup)
c.2111+17_2111+41dup (n.2111+17_2111+41dup)
c.1739+17_1739+41dup (n.1739+17_1739+41dup)
c.2027+17_2027+41dup (n.2027+17_2027+41dup)
c.1631+17_1631+41dup (n.1631+17_1631+41dup)
c.1343+17_1343+41dup (n.1343+17_1343+41dup)
c.1664+17_1664+41dup (n.1664+17_1664+41dup)
c.1577+17_1577+41dup (n.1577+17_1577+41dup)
c.1346+17_1346+41dup (n.1346+17_1346+41dup)
c.1271+17_1271+41dup (n.1271+17_1271+41dup)
c.1268+17_1268+41dup (n.1268+17_1268+41dup)
c.2114+17_2114+41dup (n.2114+17_2114+41dup)
c.1580+17_1580+41dup (n.1580+17_1580+41dup)
c.1661+17_1661+41dup (n.1661+17_1661+41dup)
c.2099+17_2099+41dup (n.2099+17_2099+41dup)
n.2269+17_2269+41dup
c.1232+17_1232+41dup (n.1232+17_1232+41dup)
n.2141+17_2141+41dup
 dbSNP
14g.88610957_88610981delCA7300794ZC3H14c.2204+17_2204+41del (n.2204+17_2204+41del)
c.*1412+17_*1412+41del (n.*1412+17_*1412+41del)
c.1733+17_1733+41del (n.1733+17_1733+41del)
c.914+17_914+41del (n.914+17_914+41del)
c.1709+17_1709+41del (n.1709+17_1709+41del)
c.2129+17_2129+41del (n.2129+17_2129+41del)
c.842+17_842+41del (n.842+17_842+41del)
n.1047+17_1047+41del
c.2186+17_2186+41del (n.2186+17_2186+41del)
c.449+17_449+41del (n.449+17_449+41del)
n.363+17_363+41del
c.1310+17_1310+41del (n.1310+17_1310+41del)
c.1948+17_1948+41del
c.1811+17_1811+41del (n.1811+17_1811+41del)
n.1489+17_1489+41del
c.1256+17_1256+41del (n.1256+17_1256+41del)
c.2201+17_2201+41del (n.2201+17_2201+41del)
c.2189+17_2189+41del (n.2189+17_2189+41del)
c.1808+17_1808+41del (n.1808+17_1808+41del)
c.1736+17_1736+41del (n.1736+17_1736+41del)
c.1235+17_1235+41del (n.1235+17_1235+41del)
c.2102+17_2102+41del (n.2102+17_2102+41del)
c.2048+17_2048+41del (n.2048+17_2048+41del)
c.2126+17_2126+41del (n.2126+17_2126+41del)
c.2111+17_2111+41del (n.2111+17_2111+41del)
c.1739+17_1739+41del (n.1739+17_1739+41del)
c.2027+17_2027+41del (n.2027+17_2027+41del)
c.1631+17_1631+41del (n.1631+17_1631+41del)
c.1343+17_1343+41del (n.1343+17_1343+41del)
c.1664+17_1664+41del (n.1664+17_1664+41del)
c.1577+17_1577+41del (n.1577+17_1577+41del)
c.1346+17_1346+41del (n.1346+17_1346+41del)
c.1271+17_1271+41del (n.1271+17_1271+41del)
c.1268+17_1268+41del (n.1268+17_1268+41del)
c.2114+17_2114+41del (n.2114+17_2114+41del)
c.1580+17_1580+41del (n.1580+17_1580+41del)
c.1661+17_1661+41del (n.1661+17_1661+41del)
c.2099+17_2099+41del (n.2099+17_2099+41del)
n.2269+17_2269+41del
c.1232+17_1232+41del (n.1232+17_1232+41del)
n.2141+17_2141+41del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.88610949T>CCA2626010437ZC3H14c.2204+9T>C (n.2204+9T>C)
c.*1412+9T>C (n.*1412+9T>C)
c.1733+9T>C (n.1733+9T>C)
c.914+9T>C (n.914+9T>C)
c.1709+9T>C (n.1709+9T>C)
c.2129+9T>C (n.2129+9T>C)
c.842+9T>C (n.842+9T>C)
n.1047+9T>C
c.2186+9T>C (n.2186+9T>C)
c.449+9T>C (n.449+9T>C)
n.363+9T>C
c.1310+9T>C (n.1310+9T>C)
c.1948+9T>C
c.1811+9T>C (n.1811+9T>C)
n.1489+9T>C
c.1256+9T>C (n.1256+9T>C)
c.2201+9T>C (n.2201+9T>C)
c.2189+9T>C (n.2189+9T>C)
c.1808+9T>C (n.1808+9T>C)
c.1736+9T>C (n.1736+9T>C)
c.1235+9T>C (n.1235+9T>C)
c.2102+9T>C (n.2102+9T>C)
c.2048+9T>C (n.2048+9T>C)
c.2126+9T>C (n.2126+9T>C)
c.2111+9T>C (n.2111+9T>C)
c.1739+9T>C (n.1739+9T>C)
c.2027+9T>C (n.2027+9T>C)
c.1631+9T>C (n.1631+9T>C)
c.1343+9T>C (n.1343+9T>C)
c.1664+9T>C (n.1664+9T>C)
c.1577+9T>C (n.1577+9T>C)
c.1346+9T>C (n.1346+9T>C)
c.1271+9T>C (n.1271+9T>C)
c.1268+9T>C (n.1268+9T>C)
c.2114+9T>C (n.2114+9T>C)
c.1580+9T>C (n.1580+9T>C)
c.1661+9T>C (n.1661+9T>C)
c.2099+9T>C (n.2099+9T>C)
n.2269+9T>C
c.1232+9T>C (n.1232+9T>C)
n.2141+9T>C
 gnomAD v4
14g.88610949T>GCA2626010436ZC3H14c.2204+9T>G (n.2204+9T>G)
c.*1412+9T>G (n.*1412+9T>G)
c.1733+9T>G (n.1733+9T>G)
c.914+9T>G (n.914+9T>G)
c.1709+9T>G (n.1709+9T>G)
c.2129+9T>G (n.2129+9T>G)
c.842+9T>G (n.842+9T>G)
n.1047+9T>G
c.2186+9T>G (n.2186+9T>G)
c.449+9T>G (n.449+9T>G)
n.363+9T>G
c.1310+9T>G (n.1310+9T>G)
c.1948+9T>G
c.1811+9T>G (n.1811+9T>G)
n.1489+9T>G
c.1256+9T>G (n.1256+9T>G)
c.2201+9T>G (n.2201+9T>G)
c.2189+9T>G (n.2189+9T>G)
c.1808+9T>G (n.1808+9T>G)
c.1736+9T>G (n.1736+9T>G)
c.1235+9T>G (n.1235+9T>G)
c.2102+9T>G (n.2102+9T>G)
c.2048+9T>G (n.2048+9T>G)
c.2126+9T>G (n.2126+9T>G)
c.2111+9T>G (n.2111+9T>G)
c.1739+9T>G (n.1739+9T>G)
c.2027+9T>G (n.2027+9T>G)
c.1631+9T>G (n.1631+9T>G)
c.1343+9T>G (n.1343+9T>G)
c.1664+9T>G (n.1664+9T>G)
c.1577+9T>G (n.1577+9T>G)
c.1346+9T>G (n.1346+9T>G)
c.1271+9T>G (n.1271+9T>G)
c.1268+9T>G (n.1268+9T>G)
c.2114+9T>G (n.2114+9T>G)
c.1580+9T>G (n.1580+9T>G)
c.1661+9T>G (n.1661+9T>G)
c.2099+9T>G (n.2099+9T>G)
n.2269+9T>G
c.1232+9T>G (n.1232+9T>G)
n.2141+9T>G
 gnomAD v4
14g.88610950delCA2575597182ZC3H14c.2204+10del (n.2204+10del)
c.*1412+10del (n.*1412+10del)
c.1733+10del (n.1733+10del)
c.914+10del (n.914+10del)
c.1709+10del (n.1709+10del)
c.2129+10del (n.2129+10del)
c.842+10del (n.842+10del)
n.1047+10del
c.2186+10del (n.2186+10del)
c.449+10del (n.449+10del)
n.363+10del
c.1310+10del (n.1310+10del)
c.1948+10del
c.1811+10del (n.1811+10del)
n.1489+10del
c.1256+10del (n.1256+10del)
c.2201+10del (n.2201+10del)
c.2189+10del (n.2189+10del)
c.1808+10del (n.1808+10del)
c.1736+10del (n.1736+10del)
c.1235+10del (n.1235+10del)
c.2102+10del (n.2102+10del)
c.2048+10del (n.2048+10del)
c.2126+10del (n.2126+10del)
c.2111+10del (n.2111+10del)
c.1739+10del (n.1739+10del)
c.2027+10del (n.2027+10del)
c.1631+10del (n.1631+10del)
c.1343+10del (n.1343+10del)
c.1664+10del (n.1664+10del)
c.1577+10del (n.1577+10del)
c.1346+10del (n.1346+10del)
c.1271+10del (n.1271+10del)
c.1268+10del (n.1268+10del)
c.2114+10del (n.2114+10del)
c.1580+10del (n.1580+10del)
c.1661+10del (n.1661+10del)
c.2099+10del (n.2099+10del)
n.2269+10del
c.1232+10del (n.1232+10del)
n.2141+10del
14g.88610950C=CA2153694429ZC3H14c.2204+10C= (n.2204+10C=)
c.*1412+10C= (n.*1412+10C=)
c.1733+10C= (n.1733+10C=)
c.914+10C= (n.914+10C=)
c.1709+10C= (n.1709+10C=)
c.2129+10C= (n.2129+10C=)
c.842+10C= (n.842+10C=)
n.1047+10C=
c.2186+10C= (n.2186+10C=)
c.449+10C= (n.449+10C=)
n.363+10C=
c.1310+10C= (n.1310+10C=)
c.1948+10C=
c.1811+10C= (n.1811+10C=)
n.1489+10C=
c.1256+10C= (n.1256+10C=)
c.2201+10C= (n.2201+10C=)
c.2189+10C= (n.2189+10C=)
c.1808+10C= (n.1808+10C=)
c.1736+10C= (n.1736+10C=)
c.1235+10C= (n.1235+10C=)
c.2102+10C= (n.2102+10C=)
c.2048+10C= (n.2048+10C=)
c.2126+10C= (n.2126+10C=)
c.2111+10C= (n.2111+10C=)
c.1739+10C= (n.1739+10C=)
c.2027+10C= (n.2027+10C=)
c.1631+10C= (n.1631+10C=)
c.1343+10C= (n.1343+10C=)
c.1664+10C= (n.1664+10C=)
c.1577+10C= (n.1577+10C=)
c.1346+10C= (n.1346+10C=)
c.1271+10C= (n.1271+10C=)
c.1268+10C= (n.1268+10C=)
c.2114+10C= (n.2114+10C=)
c.1580+10C= (n.1580+10C=)
c.1661+10C= (n.1661+10C=)
c.2099+10C= (n.2099+10C=)
n.2269+10C=
c.1232+10C= (n.1232+10C=)
n.2141+10C=
14g.88610950C>GCA7300795ZC3H14c.2204+10C>G (n.2204+10C>G)
c.*1412+10C>G (n.*1412+10C>G)
c.1733+10C>G (n.1733+10C>G)
c.914+10C>G (n.914+10C>G)
c.1709+10C>G (n.1709+10C>G)
c.2129+10C>G (n.2129+10C>G)
c.842+10C>G (n.842+10C>G)
n.1047+10C>G
c.2186+10C>G (n.2186+10C>G)
c.449+10C>G (n.449+10C>G)
n.363+10C>G
c.1310+10C>G (n.1310+10C>G)
c.1948+10C>G
c.1811+10C>G (n.1811+10C>G)
n.1489+10C>G
c.1256+10C>G (n.1256+10C>G)
c.2201+10C>G (n.2201+10C>G)
c.2189+10C>G (n.2189+10C>G)
c.1808+10C>G (n.1808+10C>G)
c.1736+10C>G (n.1736+10C>G)
c.1235+10C>G (n.1235+10C>G)
c.2102+10C>G (n.2102+10C>G)
c.2048+10C>G (n.2048+10C>G)
c.2126+10C>G (n.2126+10C>G)
c.2111+10C>G (n.2111+10C>G)
c.1739+10C>G (n.1739+10C>G)
c.2027+10C>G (n.2027+10C>G)
c.1631+10C>G (n.1631+10C>G)
c.1343+10C>G (n.1343+10C>G)
c.1664+10C>G (n.1664+10C>G)
c.1577+10C>G (n.1577+10C>G)
c.1346+10C>G (n.1346+10C>G)
c.1271+10C>G (n.1271+10C>G)
c.1268+10C>G (n.1268+10C>G)
c.2114+10C>G (n.2114+10C>G)
c.1580+10C>G (n.1580+10C>G)
c.1661+10C>G (n.1661+10C>G)
c.2099+10C>G (n.2099+10C>G)
n.2269+10C>G
c.1232+10C>G (n.1232+10C>G)
n.2141+10C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.88610950C>TCA2626010438ZC3H14c.2204+10C>T (n.2204+10C>T)
c.*1412+10C>T (n.*1412+10C>T)
c.1733+10C>T (n.1733+10C>T)
c.914+10C>T (n.914+10C>T)
c.1709+10C>T (n.1709+10C>T)
c.2129+10C>T (n.2129+10C>T)
c.842+10C>T (n.842+10C>T)
n.1047+10C>T
c.2186+10C>T (n.2186+10C>T)
c.449+10C>T (n.449+10C>T)
n.363+10C>T
c.1310+10C>T (n.1310+10C>T)
c.1948+10C>T
c.1811+10C>T (n.1811+10C>T)
n.1489+10C>T
c.1256+10C>T (n.1256+10C>T)
c.2201+10C>T (n.2201+10C>T)
c.2189+10C>T (n.2189+10C>T)
c.1808+10C>T (n.1808+10C>T)
c.1736+10C>T (n.1736+10C>T)
c.1235+10C>T (n.1235+10C>T)
c.2102+10C>T (n.2102+10C>T)
c.2048+10C>T (n.2048+10C>T)
c.2126+10C>T (n.2126+10C>T)
c.2111+10C>T (n.2111+10C>T)
c.1739+10C>T (n.1739+10C>T)
c.2027+10C>T (n.2027+10C>T)
c.1631+10C>T (n.1631+10C>T)
c.1343+10C>T (n.1343+10C>T)
c.1664+10C>T (n.1664+10C>T)
c.1577+10C>T (n.1577+10C>T)
c.1346+10C>T (n.1346+10C>T)
c.1271+10C>T (n.1271+10C>T)
c.1268+10C>T (n.1268+10C>T)
c.2114+10C>T (n.2114+10C>T)
c.1580+10C>T (n.1580+10C>T)
c.1661+10C>T (n.1661+10C>T)
c.2099+10C>T (n.2099+10C>T)
n.2269+10C>T
c.1232+10C>T (n.1232+10C>T)
n.2141+10C>T
 gnomAD v4
14g.88610953delCA2575597183ZC3H14c.2204+13del (n.2204+13del)
c.*1412+13del (n.*1412+13del)
c.1733+13del (n.1733+13del)
c.914+13del (n.914+13del)
c.1709+13del (n.1709+13del)
c.2129+13del (n.2129+13del)
c.842+13del (n.842+13del)
n.1047+13del
c.2186+13del (n.2186+13del)
c.449+13del (n.449+13del)
n.363+13del
c.1310+13del (n.1310+13del)
c.1948+13del
c.1811+13del (n.1811+13del)
n.1489+13del
c.1256+13del (n.1256+13del)
c.2201+13del (n.2201+13del)
c.2189+13del (n.2189+13del)
c.1808+13del (n.1808+13del)
c.1736+13del (n.1736+13del)
c.1235+13del (n.1235+13del)
c.2102+13del (n.2102+13del)
c.2048+13del (n.2048+13del)
c.2126+13del (n.2126+13del)
c.2111+13del (n.2111+13del)
c.1739+13del (n.1739+13del)
c.2027+13del (n.2027+13del)
c.1631+13del (n.1631+13del)
c.1343+13del (n.1343+13del)
c.1664+13del (n.1664+13del)
c.1577+13del (n.1577+13del)
c.1346+13del (n.1346+13del)
c.1271+13del (n.1271+13del)
c.1268+13del (n.1268+13del)
c.2114+13del (n.2114+13del)
c.1580+13del (n.1580+13del)
c.1661+13del (n.1661+13del)
c.2099+13del (n.2099+13del)
n.2269+13del
c.1232+13del (n.1232+13del)
n.2141+13del
 gnomAD v4
14g.88610952A=CA2153694430ZC3H14c.2204+12A= (n.2204+12A=)
c.*1412+12A= (n.*1412+12A=)
c.1733+12A= (n.1733+12A=)
c.914+12A= (n.914+12A=)
c.1709+12A= (n.1709+12A=)
c.2129+12A= (n.2129+12A=)
c.842+12A= (n.842+12A=)
n.1047+12A=
c.2186+12A= (n.2186+12A=)
c.449+12A= (n.449+12A=)
n.363+12A=
c.1310+12A= (n.1310+12A=)
c.1948+12A=
c.1811+12A= (n.1811+12A=)
n.1489+12A=
c.1256+12A= (n.1256+12A=)
c.2201+12A= (n.2201+12A=)
c.2189+12A= (n.2189+12A=)
c.1808+12A= (n.1808+12A=)
c.1736+12A= (n.1736+12A=)
c.1235+12A= (n.1235+12A=)
c.2102+12A= (n.2102+12A=)
c.2048+12A= (n.2048+12A=)
c.2126+12A= (n.2126+12A=)
c.2111+12A= (n.2111+12A=)
c.1739+12A= (n.1739+12A=)
c.2027+12A= (n.2027+12A=)
c.1631+12A= (n.1631+12A=)
c.1343+12A= (n.1343+12A=)
c.1664+12A= (n.1664+12A=)
c.1577+12A= (n.1577+12A=)
c.1346+12A= (n.1346+12A=)
c.1271+12A= (n.1271+12A=)
c.1268+12A= (n.1268+12A=)
c.2114+12A= (n.2114+12A=)
c.1580+12A= (n.1580+12A=)
c.1661+12A= (n.1661+12A=)
c.2099+12A= (n.2099+12A=)
n.2269+12A=
c.1232+12A= (n.1232+12A=)
n.2141+12A=
14g.88610952A>CCA2626010439ZC3H14c.2204+12A>C (n.2204+12A>C)
c.*1412+12A>C (n.*1412+12A>C)
c.1733+12A>C (n.1733+12A>C)
c.914+12A>C (n.914+12A>C)
c.1709+12A>C (n.1709+12A>C)
c.2129+12A>C (n.2129+12A>C)
c.842+12A>C (n.842+12A>C)
n.1047+12A>C
c.2186+12A>C (n.2186+12A>C)
c.449+12A>C (n.449+12A>C)
n.363+12A>C
c.1310+12A>C (n.1310+12A>C)
c.1948+12A>C
c.1811+12A>C (n.1811+12A>C)
n.1489+12A>C
c.1256+12A>C (n.1256+12A>C)
c.2201+12A>C (n.2201+12A>C)
c.2189+12A>C (n.2189+12A>C)
c.1808+12A>C (n.1808+12A>C)
c.1736+12A>C (n.1736+12A>C)
c.1235+12A>C (n.1235+12A>C)
c.2102+12A>C (n.2102+12A>C)
c.2048+12A>C (n.2048+12A>C)
c.2126+12A>C (n.2126+12A>C)
c.2111+12A>C (n.2111+12A>C)
c.1739+12A>C (n.1739+12A>C)
c.2027+12A>C (n.2027+12A>C)
c.1631+12A>C (n.1631+12A>C)
c.1343+12A>C (n.1343+12A>C)
c.1664+12A>C (n.1664+12A>C)
c.1577+12A>C (n.1577+12A>C)
c.1346+12A>C (n.1346+12A>C)
c.1271+12A>C (n.1271+12A>C)
c.1268+12A>C (n.1268+12A>C)
c.2114+12A>C (n.2114+12A>C)
c.1580+12A>C (n.1580+12A>C)
c.1661+12A>C (n.1661+12A>C)
c.2099+12A>C (n.2099+12A>C)
n.2269+12A>C
c.1232+12A>C (n.1232+12A>C)
n.2141+12A>C
 gnomAD v4
14g.88610952A>GCA2153694431ZC3H14c.2204+12A>G (n.2204+12A>G)
c.*1412+12A>G (n.*1412+12A>G)
c.1733+12A>G (n.1733+12A>G)
c.914+12A>G (n.914+12A>G)
c.1709+12A>G (n.1709+12A>G)
c.2129+12A>G (n.2129+12A>G)
c.842+12A>G (n.842+12A>G)
n.1047+12A>G
c.2186+12A>G (n.2186+12A>G)
c.449+12A>G (n.449+12A>G)
n.363+12A>G
c.1310+12A>G (n.1310+12A>G)
c.1948+12A>G
c.1811+12A>G (n.1811+12A>G)
n.1489+12A>G
c.1256+12A>G (n.1256+12A>G)
c.2201+12A>G (n.2201+12A>G)
c.2189+12A>G (n.2189+12A>G)
c.1808+12A>G (n.1808+12A>G)
c.1736+12A>G (n.1736+12A>G)
c.1235+12A>G (n.1235+12A>G)
c.2102+12A>G (n.2102+12A>G)
c.2048+12A>G (n.2048+12A>G)
c.2126+12A>G (n.2126+12A>G)
c.2111+12A>G (n.2111+12A>G)
c.1739+12A>G (n.1739+12A>G)
c.2027+12A>G (n.2027+12A>G)
c.1631+12A>G (n.1631+12A>G)
c.1343+12A>G (n.1343+12A>G)
c.1664+12A>G (n.1664+12A>G)
c.1577+12A>G (n.1577+12A>G)
c.1346+12A>G (n.1346+12A>G)
c.1271+12A>G (n.1271+12A>G)
c.1268+12A>G (n.1268+12A>G)
c.2114+12A>G (n.2114+12A>G)
c.1580+12A>G (n.1580+12A>G)
c.1661+12A>G (n.1661+12A>G)
c.2099+12A>G (n.2099+12A>G)
n.2269+12A>G
c.1232+12A>G (n.1232+12A>G)
n.2141+12A>G
 dbSNP gnomAD v4
14g.88610955_88610956delinsTCCA2153694432ZC3H14c.2204+15_2204+16delinsTC (n.2204+15_2204+16delinsTC)
c.*1412+15_*1412+16delinsTC (n.*1412+15_*1412+16delinsTC)
c.1733+15_1733+16delinsTC (n.1733+15_1733+16delinsTC)
c.914+15_914+16delinsTC (n.914+15_914+16delinsTC)
c.1709+15_1709+16delinsTC (n.1709+15_1709+16delinsTC)
c.2129+15_2129+16delinsTC (n.2129+15_2129+16delinsTC)
c.842+15_842+16delinsTC (n.842+15_842+16delinsTC)
n.1047+15_1047+16delinsTC
c.2186+15_2186+16delinsTC (n.2186+15_2186+16delinsTC)
c.449+15_449+16delinsTC (n.449+15_449+16delinsTC)
n.363+15_363+16delinsTC
c.1310+15_1310+16delinsTC (n.1310+15_1310+16delinsTC)
c.1948+15_1948+16delinsTC
c.1811+15_1811+16delinsTC (n.1811+15_1811+16delinsTC)
n.1489+15_1489+16delinsTC
c.1256+15_1256+16delinsTC (n.1256+15_1256+16delinsTC)
c.2201+15_2201+16delinsTC (n.2201+15_2201+16delinsTC)
c.2189+15_2189+16delinsTC (n.2189+15_2189+16delinsTC)
c.1808+15_1808+16delinsTC (n.1808+15_1808+16delinsTC)
c.1736+15_1736+16delinsTC (n.1736+15_1736+16delinsTC)
c.1235+15_1235+16delinsTC (n.1235+15_1235+16delinsTC)
c.2102+15_2102+16delinsTC (n.2102+15_2102+16delinsTC)
c.2048+15_2048+16delinsTC (n.2048+15_2048+16delinsTC)
c.2126+15_2126+16delinsTC (n.2126+15_2126+16delinsTC)
c.2111+15_2111+16delinsTC (n.2111+15_2111+16delinsTC)
c.1739+15_1739+16delinsTC (n.1739+15_1739+16delinsTC)
c.2027+15_2027+16delinsTC (n.2027+15_2027+16delinsTC)
c.1631+15_1631+16delinsTC (n.1631+15_1631+16delinsTC)
c.1343+15_1343+16delinsTC (n.1343+15_1343+16delinsTC)
c.1664+15_1664+16delinsTC (n.1664+15_1664+16delinsTC)
c.1577+15_1577+16delinsTC (n.1577+15_1577+16delinsTC)
c.1346+15_1346+16delinsTC (n.1346+15_1346+16delinsTC)
c.1271+15_1271+16delinsTC (n.1271+15_1271+16delinsTC)
c.1268+15_1268+16delinsTC (n.1268+15_1268+16delinsTC)
c.2114+15_2114+16delinsTC (n.2114+15_2114+16delinsTC)
c.1580+15_1580+16delinsTC (n.1580+15_1580+16delinsTC)
c.1661+15_1661+16delinsTC (n.1661+15_1661+16delinsTC)
c.2099+15_2099+16delinsTC (n.2099+15_2099+16delinsTC)
n.2269+15_2269+16delinsTC
c.1232+15_1232+16delinsTC (n.1232+15_1232+16delinsTC)
n.2141+15_2141+16delinsTC
14g.88610956delCA7300796ZC3H14c.2204+16del (n.2204+16del)
c.*1412+16del (n.*1412+16del)
c.1733+16del (n.1733+16del)
c.914+16del (n.914+16del)
c.1709+16del (n.1709+16del)
c.2129+16del (n.2129+16del)
c.842+16del (n.842+16del)
n.1047+16del
c.2186+16del (n.2186+16del)
c.449+16del (n.449+16del)
n.363+16del
c.1310+16del (n.1310+16del)
c.1948+16del
c.1811+16del (n.1811+16del)
n.1489+16del
c.1256+16del (n.1256+16del)
c.2201+16del (n.2201+16del)
c.2189+16del (n.2189+16del)
c.1808+16del (n.1808+16del)
c.1736+16del (n.1736+16del)
c.1235+16del (n.1235+16del)
c.2102+16del (n.2102+16del)
c.2048+16del (n.2048+16del)
c.2126+16del (n.2126+16del)
c.2111+16del (n.2111+16del)
c.1739+16del (n.1739+16del)
c.2027+16del (n.2027+16del)
c.1631+16del (n.1631+16del)
c.1343+16del (n.1343+16del)
c.1664+16del (n.1664+16del)
c.1577+16del (n.1577+16del)
c.1346+16del (n.1346+16del)
c.1271+16del (n.1271+16del)
c.1268+16del (n.1268+16del)
c.2114+16del (n.2114+16del)
c.1580+16del (n.1580+16del)
c.1661+16del (n.1661+16del)
c.2099+16del (n.2099+16del)
n.2269+16del
c.1232+16del (n.1232+16del)
n.2141+16del
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.88610956C>ACA2626010440ZC3H14c.2204+16C>A (n.2204+16C>A)
c.*1412+16C>A (n.*1412+16C>A)
c.1733+16C>A (n.1733+16C>A)
c.914+16C>A (n.914+16C>A)
c.1709+16C>A (n.1709+16C>A)
c.2129+16C>A (n.2129+16C>A)
c.842+16C>A (n.842+16C>A)
n.1047+16C>A
c.2186+16C>A (n.2186+16C>A)
c.449+16C>A (n.449+16C>A)
n.363+16C>A
c.1310+16C>A (n.1310+16C>A)
c.1948+16C>A
c.1811+16C>A (n.1811+16C>A)
n.1489+16C>A
c.1256+16C>A (n.1256+16C>A)
c.2201+16C>A (n.2201+16C>A)
c.2189+16C>A (n.2189+16C>A)
c.1808+16C>A (n.1808+16C>A)
c.1736+16C>A (n.1736+16C>A)
c.1235+16C>A (n.1235+16C>A)
c.2102+16C>A (n.2102+16C>A)
c.2048+16C>A (n.2048+16C>A)
c.2126+16C>A (n.2126+16C>A)
c.2111+16C>A (n.2111+16C>A)
c.1739+16C>A (n.1739+16C>A)
c.2027+16C>A (n.2027+16C>A)
c.1631+16C>A (n.1631+16C>A)
c.1343+16C>A (n.1343+16C>A)
c.1664+16C>A (n.1664+16C>A)
c.1577+16C>A (n.1577+16C>A)
c.1346+16C>A (n.1346+16C>A)
c.1271+16C>A (n.1271+16C>A)
c.1268+16C>A (n.1268+16C>A)
c.2114+16C>A (n.2114+16C>A)
c.1580+16C>A (n.1580+16C>A)
c.1661+16C>A (n.1661+16C>A)
c.2099+16C>A (n.2099+16C>A)
n.2269+16C>A
c.1232+16C>A (n.1232+16C>A)
n.2141+16C>A
 gnomAD v4
14g.88610956C=CA2153694433ZC3H14c.2204+16C= (n.2204+16C=)
c.*1412+16C= (n.*1412+16C=)
c.1733+16C= (n.1733+16C=)
c.914+16C= (n.914+16C=)
c.1709+16C= (n.1709+16C=)
c.2129+16C= (n.2129+16C=)
c.842+16C= (n.842+16C=)
n.1047+16C=
c.2186+16C= (n.2186+16C=)
c.449+16C= (n.449+16C=)
n.363+16C=
c.1310+16C= (n.1310+16C=)
c.1948+16C=
c.1811+16C= (n.1811+16C=)
n.1489+16C=
c.1256+16C= (n.1256+16C=)
c.2201+16C= (n.2201+16C=)
c.2189+16C= (n.2189+16C=)
c.1808+16C= (n.1808+16C=)
c.1736+16C= (n.1736+16C=)
c.1235+16C= (n.1235+16C=)
c.2102+16C= (n.2102+16C=)
c.2048+16C= (n.2048+16C=)
c.2126+16C= (n.2126+16C=)
c.2111+16C= (n.2111+16C=)
c.1739+16C= (n.1739+16C=)
c.2027+16C= (n.2027+16C=)
c.1631+16C= (n.1631+16C=)
c.1343+16C= (n.1343+16C=)
c.1664+16C= (n.1664+16C=)
c.1577+16C= (n.1577+16C=)
c.1346+16C= (n.1346+16C=)
c.1271+16C= (n.1271+16C=)
c.1268+16C= (n.1268+16C=)
c.2114+16C= (n.2114+16C=)
c.1580+16C= (n.1580+16C=)
c.1661+16C= (n.1661+16C=)
c.2099+16C= (n.2099+16C=)
n.2269+16C=
c.1232+16C= (n.1232+16C=)
n.2141+16C=
14g.88610956C>TCA7300797ZC3H14c.2204+16C>T (n.2204+16C>T)
c.*1412+16C>T (n.*1412+16C>T)
c.1733+16C>T (n.1733+16C>T)
c.914+16C>T (n.914+16C>T)
c.1709+16C>T (n.1709+16C>T)
c.2129+16C>T (n.2129+16C>T)
c.842+16C>T (n.842+16C>T)
n.1047+16C>T
c.2186+16C>T (n.2186+16C>T)
c.449+16C>T (n.449+16C>T)
n.363+16C>T
c.1310+16C>T (n.1310+16C>T)
c.1948+16C>T
c.1811+16C>T (n.1811+16C>T)
n.1489+16C>T
c.1256+16C>T (n.1256+16C>T)
c.2201+16C>T (n.2201+16C>T)
c.2189+16C>T (n.2189+16C>T)
c.1808+16C>T (n.1808+16C>T)
c.1736+16C>T (n.1736+16C>T)
c.1235+16C>T (n.1235+16C>T)
c.2102+16C>T (n.2102+16C>T)
c.2048+16C>T (n.2048+16C>T)
c.2126+16C>T (n.2126+16C>T)
c.2111+16C>T (n.2111+16C>T)
c.1739+16C>T (n.1739+16C>T)
c.2027+16C>T (n.2027+16C>T)
c.1631+16C>T (n.1631+16C>T)
c.1343+16C>T (n.1343+16C>T)
c.1664+16C>T (n.1664+16C>T)
c.1577+16C>T (n.1577+16C>T)
c.1346+16C>T (n.1346+16C>T)
c.1271+16C>T (n.1271+16C>T)
c.1268+16C>T (n.1268+16C>T)
c.2114+16C>T (n.2114+16C>T)
c.1580+16C>T (n.1580+16C>T)
c.1661+16C>T (n.1661+16C>T)
c.2099+16C>T (n.2099+16C>T)
n.2269+16C>T
c.1232+16C>T (n.1232+16C>T)
n.2141+16C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.88610957G>ACA7300799ZC3H14c.2204+17G>A (n.2204+17G>A)
c.*1412+17G>A (n.*1412+17G>A)
c.1733+17G>A (n.1733+17G>A)
c.914+17G>A (n.914+17G>A)
c.1709+17G>A (n.1709+17G>A)
c.2129+17G>A (n.2129+17G>A)
c.842+17G>A (n.842+17G>A)
n.1047+17G>A
c.2186+17G>A (n.2186+17G>A)
c.449+17G>A (n.449+17G>A)
n.363+17G>A
c.1310+17G>A (n.1310+17G>A)
c.1948+17G>A
c.1811+17G>A (n.1811+17G>A)
n.1489+17G>A
c.1256+17G>A (n.1256+17G>A)
c.2201+17G>A (n.2201+17G>A)
c.2189+17G>A (n.2189+17G>A)
c.1808+17G>A (n.1808+17G>A)
c.1736+17G>A (n.1736+17G>A)
c.1235+17G>A (n.1235+17G>A)
c.2102+17G>A (n.2102+17G>A)
c.2048+17G>A (n.2048+17G>A)
c.2126+17G>A (n.2126+17G>A)
c.2111+17G>A (n.2111+17G>A)
c.1739+17G>A (n.1739+17G>A)
c.2027+17G>A (n.2027+17G>A)
c.1631+17G>A (n.1631+17G>A)
c.1343+17G>A (n.1343+17G>A)
c.1664+17G>A (n.1664+17G>A)
c.1577+17G>A (n.1577+17G>A)
c.1346+17G>A (n.1346+17G>A)
c.1271+17G>A (n.1271+17G>A)
c.1268+17G>A (n.1268+17G>A)
c.2114+17G>A (n.2114+17G>A)
c.1580+17G>A (n.1580+17G>A)
c.1661+17G>A (n.1661+17G>A)
c.2099+17G>A (n.2099+17G>A)
n.2269+17G>A
c.1232+17G>A (n.1232+17G>A)
n.2141+17G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.88610957G=CA2153694435ZC3H14c.2204+17G= (n.2204+17G=)
c.*1412+17G= (n.*1412+17G=)
c.1733+17G= (n.1733+17G=)
c.914+17G= (n.914+17G=)
c.1709+17G= (n.1709+17G=)
c.2129+17G= (n.2129+17G=)
c.842+17G= (n.842+17G=)
n.1047+17G=
c.2186+17G= (n.2186+17G=)
c.449+17G= (n.449+17G=)
n.363+17G=
c.1310+17G= (n.1310+17G=)
c.1948+17G=
c.1811+17G= (n.1811+17G=)
n.1489+17G=
c.1256+17G= (n.1256+17G=)
c.2201+17G= (n.2201+17G=)
c.2189+17G= (n.2189+17G=)
c.1808+17G= (n.1808+17G=)
c.1736+17G= (n.1736+17G=)
c.1235+17G= (n.1235+17G=)
c.2102+17G= (n.2102+17G=)
c.2048+17G= (n.2048+17G=)
c.2126+17G= (n.2126+17G=)
c.2111+17G= (n.2111+17G=)
c.1739+17G= (n.1739+17G=)
c.2027+17G= (n.2027+17G=)
c.1631+17G= (n.1631+17G=)
c.1343+17G= (n.1343+17G=)
c.1664+17G= (n.1664+17G=)
c.1577+17G= (n.1577+17G=)
c.1346+17G= (n.1346+17G=)
c.1271+17G= (n.1271+17G=)
c.1268+17G= (n.1268+17G=)
c.2114+17G= (n.2114+17G=)
c.1580+17G= (n.1580+17G=)
c.1661+17G= (n.1661+17G=)
c.2099+17G= (n.2099+17G=)
n.2269+17G=
c.1232+17G= (n.1232+17G=)
n.2141+17G=
14g.88610957G>TCA264514100ZC3H14c.2204+17G>T (n.2204+17G>T)
c.*1412+17G>T (n.*1412+17G>T)
c.1733+17G>T (n.1733+17G>T)
c.914+17G>T (n.914+17G>T)
c.1709+17G>T (n.1709+17G>T)
c.2129+17G>T (n.2129+17G>T)
c.842+17G>T (n.842+17G>T)
n.1047+17G>T
c.2186+17G>T (n.2186+17G>T)
c.449+17G>T (n.449+17G>T)
n.363+17G>T
c.1310+17G>T (n.1310+17G>T)
c.1948+17G>T
c.1811+17G>T (n.1811+17G>T)
n.1489+17G>T
c.1256+17G>T (n.1256+17G>T)
c.2201+17G>T (n.2201+17G>T)
c.2189+17G>T (n.2189+17G>T)
c.1808+17G>T (n.1808+17G>T)
c.1736+17G>T (n.1736+17G>T)
c.1235+17G>T (n.1235+17G>T)
c.2102+17G>T (n.2102+17G>T)
c.2048+17G>T (n.2048+17G>T)
c.2126+17G>T (n.2126+17G>T)
c.2111+17G>T (n.2111+17G>T)
c.1739+17G>T (n.1739+17G>T)
c.2027+17G>T (n.2027+17G>T)
c.1631+17G>T (n.1631+17G>T)
c.1343+17G>T (n.1343+17G>T)
c.1664+17G>T (n.1664+17G>T)
c.1577+17G>T (n.1577+17G>T)
c.1346+17G>T (n.1346+17G>T)
c.1271+17G>T (n.1271+17G>T)
c.1268+17G>T (n.1268+17G>T)
c.2114+17G>T (n.2114+17G>T)
c.1580+17G>T (n.1580+17G>T)
c.1661+17G>T (n.1661+17G>T)
c.2099+17G>T (n.2099+17G>T)
n.2269+17G>T
c.1232+17G>T (n.1232+17G>T)
n.2141+17G>T
 dbSNP gnomAD v4
14g.88610957_88610982delCA2575597184ZC3H14c.2204+17_2204+42del (n.2204+17_2204+42del)
c.*1412+17_*1412+42del (n.*1412+17_*1412+42del)
c.1733+17_1733+42del (n.1733+17_1733+42del)
c.914+17_914+42del (n.914+17_914+42del)
c.1709+17_1709+42del (n.1709+17_1709+42del)
c.2129+17_2129+42del (n.2129+17_2129+42del)
c.842+17_842+42del (n.842+17_842+42del)
n.1047+17_1047+42del
c.2186+17_2186+42del (n.2186+17_2186+42del)
c.449+17_449+42del (n.449+17_449+42del)
n.363+17_363+42del
c.1310+17_1310+42del (n.1310+17_1310+42del)
c.1948+17_1948+42del
c.1811+17_1811+42del (n.1811+17_1811+42del)
n.1489+17_1489+42del
c.1256+17_1256+42del (n.1256+17_1256+42del)
c.2201+17_2201+42del (n.2201+17_2201+42del)
c.2189+17_2189+42del (n.2189+17_2189+42del)
c.1808+17_1808+42del (n.1808+17_1808+42del)
c.1736+17_1736+42del (n.1736+17_1736+42del)
c.1235+17_1235+42del (n.1235+17_1235+42del)
c.2102+17_2102+42del (n.2102+17_2102+42del)
c.2048+17_2048+42del (n.2048+17_2048+42del)
c.2126+17_2126+42del (n.2126+17_2126+42del)
c.2111+17_2111+42del (n.2111+17_2111+42del)
c.1739+17_1739+42del (n.1739+17_1739+42del)
c.2027+17_2027+42del (n.2027+17_2027+42del)
c.1631+17_1631+42del (n.1631+17_1631+42del)
c.1343+17_1343+42del (n.1343+17_1343+42del)
c.1664+17_1664+42del (n.1664+17_1664+42del)
c.1577+17_1577+42del (n.1577+17_1577+42del)
c.1346+17_1346+42del (n.1346+17_1346+42del)
c.1271+17_1271+42del (n.1271+17_1271+42del)
c.1268+17_1268+42del (n.1268+17_1268+42del)
c.2114+17_2114+42del (n.2114+17_2114+42del)
c.1580+17_1580+42del (n.1580+17_1580+42del)
c.1661+17_1661+42del (n.1661+17_1661+42del)
c.2099+17_2099+42del (n.2099+17_2099+42del)
n.2269+17_2269+42del
c.1232+17_1232+42del (n.1232+17_1232+42del)
n.2141+17_2141+42del
14g.88610957_88610982delinsGTTTTTCTCATGTCAGTTCAAATTCTCA2153694434ZC3H14c.2204+17_2204+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.2204+17_2204+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.*1412+17_*1412+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.*1412+17_*1412+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.1733+17_1733+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.1733+17_1733+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.914+17_914+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.914+17_914+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.1709+17_1709+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.1709+17_1709+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.2129+17_2129+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.2129+17_2129+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.842+17_842+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.842+17_842+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
n.1047+17_1047+42delinsGTTTTTCTCATGTCAGTTCAAATTCT
c.2186+17_2186+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.2186+17_2186+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.449+17_449+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.449+17_449+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
n.363+17_363+42delinsGTTTTTCTCATGTCAGTTCAAATTCT
c.1310+17_1310+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.1310+17_1310+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.1948+17_1948+42delinsGTTTTTCTCATGTCAGTTCAAATTCT
c.1811+17_1811+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.1811+17_1811+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
n.1489+17_1489+42delinsGTTTTTCTCATGTCAGTTCAAATTCT
c.1256+17_1256+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.1256+17_1256+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.2201+17_2201+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.2201+17_2201+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.2189+17_2189+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.2189+17_2189+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.1808+17_1808+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.1808+17_1808+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.1736+17_1736+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.1736+17_1736+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.1235+17_1235+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.1235+17_1235+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.2102+17_2102+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.2102+17_2102+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.2048+17_2048+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.2048+17_2048+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.2126+17_2126+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.2126+17_2126+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.2111+17_2111+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.2111+17_2111+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.1739+17_1739+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.1739+17_1739+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.2027+17_2027+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.2027+17_2027+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.1631+17_1631+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.1631+17_1631+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.1343+17_1343+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.1343+17_1343+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.1664+17_1664+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.1664+17_1664+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.1577+17_1577+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.1577+17_1577+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.1346+17_1346+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.1346+17_1346+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.1271+17_1271+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.1271+17_1271+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.1268+17_1268+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.1268+17_1268+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.2114+17_2114+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.2114+17_2114+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.1580+17_1580+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.1580+17_1580+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.1661+17_1661+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.1661+17_1661+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
c.2099+17_2099+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.2099+17_2099+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
n.2269+17_2269+42delinsGTTTTTCTCATGTCAGTTCAAATTCT
c.1232+17_1232+42delinsGTTTTTCTCATGTCAGTTCAAATTCT (n.1232+17_1232+42delinsGTTTTTCTCATGTCAGTTCAAATTCT)
n.2141+17_2141+42delinsGTTTTTCTCATGTCAGTTCAAATTCT

Number of alleles fetched