Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.102634921C>ACA357756828MANBAc.2420G>T (p.Cys807Phe)
c.2282G>T (p.Cys761Phe)
c.*922G>T (n.*922G>T)
c.*1304G>T (n.*1304G>T)
c.1950G>T
c.*1402G>T (n.*1402G>T)
c.*1136G>T (n.*1136G>T)
c.2371G>T (n.2371G>T)
c.2111G>T (p.Cys704Phe)
n.6517G>T
c.1376G>T (p.Cys459Phe)
c.1037G>T (p.Cys346Phe)
c.1919G>T (p.Cys640Phe)
c.1634G>T (p.Cys545Phe)
c.1076G>T (p.Cys359Phe)
c.2207G>T (p.Cys736Phe)
4g.102634921C=CA1481458318MANBAc.2420G= (p.Cys807=)
c.2282G= (p.Cys761=)
c.*922G= (n.*922G=)
c.*1304G= (n.*1304G=)
c.1950G=
c.*1402G= (n.*1402G=)
c.*1136G= (n.*1136G=)
c.2371G= (n.2371G=)
c.2111G= (p.Cys704=)
n.6517G=
c.1376G= (p.Cys459=)
c.1037G= (p.Cys346=)
c.1919G= (p.Cys640=)
c.1634G= (p.Cys545=)
c.1076G= (p.Cys359=)
c.2207G= (p.Cys736=)
4g.102634921C>GCA3026657MANBAc.2420G>C (p.Cys807Ser)
c.2282G>C (p.Cys761Ser)
c.*922G>C (n.*922G>C)
c.*1304G>C (n.*1304G>C)
c.1950G>C
c.*1402G>C (n.*1402G>C)
c.*1136G>C (n.*1136G>C)
c.2371G>C (n.2371G>C)
c.2111G>C (p.Cys704Ser)
n.6517G>C
c.1376G>C (p.Cys459Ser)
c.1037G>C (p.Cys346Ser)
c.1919G>C (p.Cys640Ser)
c.1634G>C (p.Cys545Ser)
c.1076G>C (p.Cys359Ser)
c.2207G>C (p.Cys736Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.102634921C>TCA357756827MANBAc.2420G>A (p.Cys807Tyr)
c.2282G>A (p.Cys761Tyr)
c.*922G>A (n.*922G>A)
c.*1304G>A (n.*1304G>A)
c.1950G>A
c.*1402G>A (n.*1402G>A)
c.*1136G>A (n.*1136G>A)
c.2371G>A (n.2371G>A)
c.2111G>A (p.Cys704Tyr)
n.6517G>A
c.1376G>A (p.Cys459Tyr)
c.1037G>A (p.Cys346Tyr)
c.1919G>A (p.Cys640Tyr)
c.1634G>A (p.Cys545Tyr)
c.1076G>A (p.Cys359Tyr)
c.2207G>A (p.Cys736Tyr)
4g.102634922A=CA1481458319MANBAc.2419T= (p.Cys807=)
c.2281T= (p.Cys761=)
c.*921T= (n.*921T=)
c.*1303T= (n.*1303T=)
c.1949T=
c.*1401T= (n.*1401T=)
c.*1135T= (n.*1135T=)
c.2370T= (n.2370T=)
c.2110T= (p.Cys704=)
n.6516T=
c.1375T= (p.Cys459=)
c.1036T= (p.Cys346=)
c.1918T= (p.Cys640=)
c.1633T= (p.Cys545=)
c.1075T= (p.Cys359=)
c.2206T= (p.Cys736=)
4g.102634922A>CCA357756829MANBAc.2419T>G (p.Cys807Gly)
c.2281T>G (p.Cys761Gly)
c.*921T>G (n.*921T>G)
c.*1303T>G (n.*1303T>G)
c.1949T>G
c.*1401T>G (n.*1401T>G)
c.*1135T>G (n.*1135T>G)
c.2370T>G (n.2370T>G)
c.2110T>G (p.Cys704Gly)
n.6516T>G
c.1375T>G (p.Cys459Gly)
c.1036T>G (p.Cys346Gly)
c.1918T>G (p.Cys640Gly)
c.1633T>G (p.Cys545Gly)
c.1075T>G (p.Cys359Gly)
c.2206T>G (p.Cys736Gly)
4g.102634922A>GCA357756830MANBAc.2419T>C (p.Cys807Arg)
c.2281T>C (p.Cys761Arg)
c.*921T>C (n.*921T>C)
c.*1303T>C (n.*1303T>C)
c.1949T>C
c.*1401T>C (n.*1401T>C)
c.*1135T>C (n.*1135T>C)
c.2370T>C (n.2370T>C)
c.2110T>C (p.Cys704Arg)
n.6516T>C
c.1375T>C (p.Cys459Arg)
c.1036T>C (p.Cys346Arg)
c.1918T>C (p.Cys640Arg)
c.1633T>C (p.Cys545Arg)
c.1075T>C (p.Cys359Arg)
c.2206T>C (p.Cys736Arg)
4g.102634922A>TCA357756831MANBAc.2419T>A (p.Cys807Ser)
c.2281T>A (p.Cys761Ser)
c.*921T>A (n.*921T>A)
c.*1303T>A (n.*1303T>A)
c.1949T>A
c.*1401T>A (n.*1401T>A)
c.*1135T>A (n.*1135T>A)
c.2370T>A (n.2370T>A)
c.2110T>A (p.Cys704Ser)
n.6516T>A
c.1375T>A (p.Cys459Ser)
c.1036T>A (p.Cys346Ser)
c.1918T>A (p.Cys640Ser)
c.1633T>A (p.Cys545Ser)
c.1075T>A (p.Cys359Ser)
c.2206T>A (p.Cys736Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.102634923T>ACA357756832MANBAc.2418A>T (p.Arg806Ser)
c.2280A>T (p.Arg760Ser)
c.*920A>T (n.*920A>T)
c.*1302A>T (n.*1302A>T)
c.1948A>T
c.*1400A>T (n.*1400A>T)
c.*1134A>T (n.*1134A>T)
c.2369A>T (n.2369A>T)
c.2109A>T (p.Arg703Ser)
n.6515A>T
c.1374A>T (p.Arg458Ser)
c.1035A>T (p.Arg345Ser)
c.1917A>T (p.Arg639Ser)
c.1632A>T (p.Arg544Ser)
c.1074A>T (p.Arg358Ser)
c.2205A>T (p.Arg735Ser)
4g.102634923T>CCA440807690MANBAc.2418A>G (p.Arg806=)
c.2280A>G (p.Arg760=)
c.*920A>G (n.*920A>G)
c.*1302A>G (n.*1302A>G)
c.1948A>G
c.*1400A>G (n.*1400A>G)
c.*1134A>G (n.*1134A>G)
c.2369A>G (n.2369A>G)
c.2109A>G (p.Arg703=)
n.6515A>G
c.1374A>G (p.Arg458=)
c.1035A>G (p.Arg345=)
c.1917A>G (p.Arg639=)
c.1632A>G (p.Arg544=)
c.1074A>G (p.Arg358=)
c.2205A>G (p.Arg735=)
4g.102634923T>GCA357756833MANBAc.2418A>C (p.Arg806Ser)
c.2280A>C (p.Arg760Ser)
c.*920A>C (n.*920A>C)
c.*1302A>C (n.*1302A>C)
c.1948A>C
c.*1400A>C (n.*1400A>C)
c.*1134A>C (n.*1134A>C)
c.2369A>C (n.2369A>C)
c.2109A>C (p.Arg703Ser)
n.6515A>C
c.1374A>C (p.Arg458Ser)
c.1035A>C (p.Arg345Ser)
c.1917A>C (p.Arg639Ser)
c.1632A>C (p.Arg544Ser)
c.1074A>C (p.Arg358Ser)
c.2205A>C (p.Arg735Ser)
4g.102634924C>ACA357756834MANBAc.2417G>T (p.Arg806Ile)
c.2279G>T (p.Arg760Ile)
c.*919G>T (n.*919G>T)
c.*1301G>T (n.*1301G>T)
c.1947G>T
c.*1399G>T (n.*1399G>T)
c.*1133G>T (n.*1133G>T)
c.2368G>T (n.2368G>T)
c.2108G>T (p.Arg703Ile)
n.6514G>T
c.1373G>T (p.Arg458Ile)
c.1034G>T (p.Arg345Ile)
c.1916G>T (p.Arg639Ile)
c.1631G>T (p.Arg544Ile)
c.1073G>T (p.Arg358Ile)
c.2204G>T (p.Arg735Ile)
4g.102634924C=CA1481458320MANBAc.2417G= (p.Arg806=)
c.2279G= (p.Arg760=)
c.*919G= (n.*919G=)
c.*1301G= (n.*1301G=)
c.1947G=
c.*1399G= (n.*1399G=)
c.*1133G= (n.*1133G=)
c.2368G= (n.2368G=)
c.2108G= (p.Arg703=)
n.6514G=
c.1373G= (p.Arg458=)
c.1034G= (p.Arg345=)
c.1916G= (p.Arg639=)
c.1631G= (p.Arg544=)
c.1073G= (p.Arg358=)
c.2204G= (p.Arg735=)
4g.102634924C>GCA357756835MANBAc.2417G>C (p.Arg806Thr)
c.2279G>C (p.Arg760Thr)
c.*919G>C (n.*919G>C)
c.*1301G>C (n.*1301G>C)
c.1947G>C
c.*1399G>C (n.*1399G>C)
c.*1133G>C (n.*1133G>C)
c.2368G>C (n.2368G>C)
c.2108G>C (p.Arg703Thr)
n.6514G>C
c.1373G>C (p.Arg458Thr)
c.1034G>C (p.Arg345Thr)
c.1916G>C (p.Arg639Thr)
c.1631G>C (p.Arg544Thr)
c.1073G>C (p.Arg358Thr)
c.2204G>C (p.Arg735Thr)
4g.102634924C>TCA3026658MANBAc.2417G>A (p.Arg806Lys)
c.2279G>A (p.Arg760Lys)
c.*919G>A (n.*919G>A)
c.*1301G>A (n.*1301G>A)
c.1947G>A
c.*1399G>A (n.*1399G>A)
c.*1133G>A (n.*1133G>A)
c.2368G>A (n.2368G>A)
c.2108G>A (p.Arg703Lys)
n.6514G>A
c.1373G>A (p.Arg458Lys)
c.1034G>A (p.Arg345Lys)
c.1916G>A (p.Arg639Lys)
c.1631G>A (p.Arg544Lys)
c.1073G>A (p.Arg358Lys)
c.2204G>A (p.Arg735Lys)
 dbSNP ExAC gnomAD v3 gnomAD v4
4g.102634925T>ACA357756836MANBAc.2416A>T (p.Arg806Ter)
c.2278A>T (p.Arg760Ter)
c.*918A>T (n.*918A>T)
c.*1300A>T (n.*1300A>T)
c.1946A>T
c.*1398A>T (n.*1398A>T)
c.*1132A>T (n.*1132A>T)
c.2367A>T (n.2367A>T)
c.2107A>T (p.Arg703Ter)
n.6513A>T
c.1372A>T (p.Arg458Ter)
c.1033A>T (p.Arg345Ter)
c.1915A>T (p.Arg639Ter)
c.1630A>T (p.Arg544Ter)
c.1072A>T (p.Arg358Ter)
c.2203A>T (p.Arg735Ter)
4g.102634925T>CCA357756837MANBAc.2416A>G (p.Arg806Gly)
c.2278A>G (p.Arg760Gly)
c.*918A>G (n.*918A>G)
c.*1300A>G (n.*1300A>G)
c.1946A>G
c.*1398A>G (n.*1398A>G)
c.*1132A>G (n.*1132A>G)
c.2367A>G (n.2367A>G)
c.2107A>G (p.Arg703Gly)
n.6513A>G
c.1372A>G (p.Arg458Gly)
c.1033A>G (p.Arg345Gly)
c.1915A>G (p.Arg639Gly)
c.1630A>G (p.Arg544Gly)
c.1072A>G (p.Arg358Gly)
c.2203A>G (p.Arg735Gly)
4g.102634925T>GCA440807691MANBAc.2416A>C (p.Arg806=)
c.2278A>C (p.Arg760=)
c.*918A>C (n.*918A>C)
c.*1300A>C (n.*1300A>C)
c.1946A>C
c.*1398A>C (n.*1398A>C)
c.*1132A>C (n.*1132A>C)
c.2367A>C (n.2367A>C)
c.2107A>C (p.Arg703=)
n.6513A>C
c.1372A>C (p.Arg458=)
c.1033A>C (p.Arg345=)
c.1915A>C (p.Arg639=)
c.1630A>C (p.Arg544=)
c.1072A>C (p.Arg358=)
c.2203A>C (p.Arg735=)
4g.102634926C>ACA357756838MANBAc.2415G>T (p.Arg805Ser)
c.2277G>T (p.Arg759Ser)
c.*917G>T (n.*917G>T)
c.*1299G>T (n.*1299G>T)
c.1945G>T
c.*1397G>T (n.*1397G>T)
c.*1131G>T (n.*1131G>T)
c.2366G>T (n.2366G>T)
c.2106G>T (p.Arg702Ser)
n.6512G>T
c.1371G>T (p.Arg457Ser)
c.1032G>T (p.Arg344Ser)
c.1914G>T (p.Arg638Ser)
c.1629G>T (p.Arg543Ser)
c.1071G>T (p.Arg357Ser)
c.2202G>T (p.Arg734Ser)
4g.102634926C>GCA357756839MANBAc.2415G>C (p.Arg805Ser)
c.2277G>C (p.Arg759Ser)
c.*917G>C (n.*917G>C)
c.*1299G>C (n.*1299G>C)
c.1945G>C
c.*1397G>C (n.*1397G>C)
c.*1131G>C (n.*1131G>C)
c.2366G>C (n.2366G>C)
c.2106G>C (p.Arg702Ser)
n.6512G>C
c.1371G>C (p.Arg457Ser)
c.1032G>C (p.Arg344Ser)
c.1914G>C (p.Arg638Ser)
c.1629G>C (p.Arg543Ser)
c.1071G>C (p.Arg357Ser)
c.2202G>C (p.Arg734Ser)
4g.102634926C>TCA440807693MANBAc.2415G>A (p.Arg805=)
c.2277G>A (p.Arg759=)
c.*917G>A (n.*917G>A)
c.*1299G>A (n.*1299G>A)
c.1945G>A
c.*1397G>A (n.*1397G>A)
c.*1131G>A (n.*1131G>A)
c.2366G>A (n.2366G>A)
c.2106G>A (p.Arg702=)
n.6512G>A
c.1371G>A (p.Arg457=)
c.1032G>A (p.Arg344=)
c.1914G>A (p.Arg638=)
c.1629G>A (p.Arg543=)
c.1071G>A (p.Arg357=)
c.2202G>A (p.Arg734=)
4g.102634927C>ACA357756840MANBAc.2414G>T (p.Arg805Met)
c.2276G>T (p.Arg759Met)
c.*916G>T (n.*916G>T)
c.*1298G>T (n.*1298G>T)
c.1944G>T
c.*1396G>T (n.*1396G>T)
c.*1130G>T (n.*1130G>T)
c.2365G>T (n.2365G>T)
c.2105G>T (p.Arg702Met)
n.6511G>T
c.1370G>T (p.Arg457Met)
c.1031G>T (p.Arg344Met)
c.1913G>T (p.Arg638Met)
c.1628G>T (p.Arg543Met)
c.1070G>T (p.Arg357Met)
c.2201G>T (p.Arg734Met)
4g.102634927C>GCA357756841MANBAc.2414G>C (p.Arg805Thr)
c.2276G>C (p.Arg759Thr)
c.*916G>C (n.*916G>C)
c.*1298G>C (n.*1298G>C)
c.1944G>C
c.*1396G>C (n.*1396G>C)
c.*1130G>C (n.*1130G>C)
c.2365G>C (n.2365G>C)
c.2105G>C (p.Arg702Thr)
n.6511G>C
c.1370G>C (p.Arg457Thr)
c.1031G>C (p.Arg344Thr)
c.1913G>C (p.Arg638Thr)
c.1628G>C (p.Arg543Thr)
c.1070G>C (p.Arg357Thr)
c.2201G>C (p.Arg734Thr)
4g.102634927C>TCA357756842MANBAc.2414G>A (p.Arg805Lys)
c.2276G>A (p.Arg759Lys)
c.*916G>A (n.*916G>A)
c.*1298G>A (n.*1298G>A)
c.1944G>A
c.*1396G>A (n.*1396G>A)
c.*1130G>A (n.*1130G>A)
c.2365G>A (n.2365G>A)
c.2105G>A (p.Arg702Lys)
n.6511G>A
c.1370G>A (p.Arg457Lys)
c.1031G>A (p.Arg344Lys)
c.1913G>A (p.Arg638Lys)
c.1628G>A (p.Arg543Lys)
c.1070G>A (p.Arg357Lys)
c.2201G>A (p.Arg734Lys)
4g.102634928T>ACA357756843MANBAc.2413A>T (p.Arg805Trp)
c.2275A>T (p.Arg759Trp)
c.*915A>T (n.*915A>T)
c.*1297A>T (n.*1297A>T)
c.1943A>T
c.*1395A>T (n.*1395A>T)
c.*1129A>T (n.*1129A>T)
c.2364A>T (n.2364A>T)
c.2104A>T (p.Arg702Trp)
n.6510A>T
c.1369A>T (p.Arg457Trp)
c.1030A>T (p.Arg344Trp)
c.1912A>T (p.Arg638Trp)
c.1627A>T (p.Arg543Trp)
c.1069A>T (p.Arg357Trp)
c.2200A>T (p.Arg734Trp)
4g.102634928T>CCA357756844MANBAc.2413A>G (p.Arg805Gly)
c.2275A>G (p.Arg759Gly)
c.*915A>G (n.*915A>G)
c.*1297A>G (n.*1297A>G)
c.1943A>G
c.*1395A>G (n.*1395A>G)
c.*1129A>G (n.*1129A>G)
c.2364A>G (n.2364A>G)
c.2104A>G (p.Arg702Gly)
n.6510A>G
c.1369A>G (p.Arg457Gly)
c.1030A>G (p.Arg344Gly)
c.1912A>G (p.Arg638Gly)
c.1627A>G (p.Arg543Gly)
c.1069A>G (p.Arg357Gly)
c.2200A>G (p.Arg734Gly)
4g.102634928T>GCA440807694MANBAc.2413A>C (p.Arg805=)
c.2275A>C (p.Arg759=)
c.*915A>C (n.*915A>C)
c.*1297A>C (n.*1297A>C)
c.1943A>C
c.*1395A>C (n.*1395A>C)
c.*1129A>C (n.*1129A>C)
c.2364A>C (n.2364A>C)
c.2104A>C (p.Arg702=)
n.6510A>C
c.1369A>C (p.Arg457=)
c.1030A>C (p.Arg344=)
c.1912A>C (p.Arg638=)
c.1627A>C (p.Arg543=)
c.1069A>C (p.Arg357=)
c.2200A>C (p.Arg734=)
4g.102634929C>ACA440807695MANBAc.2412G>T (p.Leu804=)
c.2274G>T (p.Leu758=)
c.*914G>T (n.*914G>T)
c.*1296G>T (n.*1296G>T)
c.1942G>T
c.*1394G>T (n.*1394G>T)
c.*1128G>T (n.*1128G>T)
c.2363G>T (n.2363G>T)
c.2103G>T (p.Leu701=)
n.6509G>T
c.1368G>T (p.Leu456=)
c.1029G>T (p.Leu343=)
c.1911G>T (p.Leu637=)
c.1626G>T (p.Leu542=)
c.1068G>T (p.Leu356=)
c.2199G>T (p.Leu733=)
4g.102634929C>GCA440807696MANBAc.2412G>C (p.Leu804=)
c.2274G>C (p.Leu758=)
c.*914G>C (n.*914G>C)
c.*1296G>C (n.*1296G>C)
c.1942G>C
c.*1394G>C (n.*1394G>C)
c.*1128G>C (n.*1128G>C)
c.2363G>C (n.2363G>C)
c.2103G>C (p.Leu701=)
n.6509G>C
c.1368G>C (p.Leu456=)
c.1029G>C (p.Leu343=)
c.1911G>C (p.Leu637=)
c.1626G>C (p.Leu542=)
c.1068G>C (p.Leu356=)
c.2199G>C (p.Leu733=)
4g.102634929C>TCA440807697MANBAc.2412G>A (p.Leu804=)
c.2274G>A (p.Leu758=)
c.*914G>A (n.*914G>A)
c.*1296G>A (n.*1296G>A)
c.1942G>A
c.*1394G>A (n.*1394G>A)
c.*1128G>A (n.*1128G>A)
c.2363G>A (n.2363G>A)
c.2103G>A (p.Leu701=)
n.6509G>A
c.1368G>A (p.Leu456=)
c.1029G>A (p.Leu343=)
c.1911G>A (p.Leu637=)
c.1626G>A (p.Leu542=)
c.1068G>A (p.Leu356=)
c.2199G>A (p.Leu733=)
4g.102634930A=CA1481458321MANBAc.2411T= (p.Leu804=)
c.2273T= (p.Leu758=)
c.*913T= (n.*913T=)
c.*1295T= (n.*1295T=)
c.1941T=
c.*1393T= (n.*1393T=)
c.*1127T= (n.*1127T=)
c.2362T= (n.2362T=)
c.2102T= (p.Leu701=)
n.6508T=
c.1367T= (p.Leu456=)
c.1028T= (p.Leu343=)
c.1910T= (p.Leu637=)
c.1625T= (p.Leu542=)
c.1067T= (p.Leu356=)
c.2198T= (p.Leu733=)
4g.102634930A>CCA357756845MANBAc.2411T>G (p.Leu804Arg)
c.2273T>G (p.Leu758Arg)
c.*913T>G (n.*913T>G)
c.*1295T>G (n.*1295T>G)
c.1941T>G
c.*1393T>G (n.*1393T>G)
c.*1127T>G (n.*1127T>G)
c.2362T>G (n.2362T>G)
c.2102T>G (p.Leu701Arg)
n.6508T>G
c.1367T>G (p.Leu456Arg)
c.1028T>G (p.Leu343Arg)
c.1910T>G (p.Leu637Arg)
c.1625T>G (p.Leu542Arg)
c.1067T>G (p.Leu356Arg)
c.2198T>G (p.Leu733Arg)
4g.102634930A>GCA357756846MANBAc.2411T>C (p.Leu804Pro)
c.2273T>C (p.Leu758Pro)
c.*913T>C (n.*913T>C)
c.*1295T>C (n.*1295T>C)
c.1941T>C
c.*1393T>C (n.*1393T>C)
c.*1127T>C (n.*1127T>C)
c.2362T>C (n.2362T>C)
c.2102T>C (p.Leu701Pro)
n.6508T>C
c.1367T>C (p.Leu456Pro)
c.1028T>C (p.Leu343Pro)
c.1910T>C (p.Leu637Pro)
c.1625T>C (p.Leu542Pro)
c.1067T>C (p.Leu356Pro)
c.2198T>C (p.Leu733Pro)
4g.102634930A>TCA3026659MANBAc.2411T>A (p.Leu804Gln)
c.2273T>A (p.Leu758Gln)
c.*913T>A (n.*913T>A)
c.*1295T>A (n.*1295T>A)
c.1941T>A
c.*1393T>A (n.*1393T>A)
c.*1127T>A (n.*1127T>A)
c.2362T>A (n.2362T>A)
c.2102T>A (p.Leu701Gln)
n.6508T>A
c.1367T>A (p.Leu456Gln)
c.1028T>A (p.Leu343Gln)
c.1910T>A (p.Leu637Gln)
c.1625T>A (p.Leu542Gln)
c.1067T>A (p.Leu356Gln)
c.2198T>A (p.Leu733Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.102634931G>ACA440807698MANBAc.2410C>T (p.Leu804=)
c.2272C>T (p.Leu758=)
c.*912C>T (n.*912C>T)
c.*1294C>T (n.*1294C>T)
c.1940C>T
c.*1392C>T (n.*1392C>T)
c.*1126C>T (n.*1126C>T)
c.2361C>T (n.2361C>T)
c.2101C>T (p.Leu701=)
n.6507C>T
c.1366C>T (p.Leu456=)
c.1027C>T (p.Leu343=)
c.1909C>T (p.Leu637=)
c.1624C>T (p.Leu542=)
c.1066C>T (p.Leu356=)
c.2197C>T (p.Leu733=)
4g.102634931G>CCA357756847MANBAc.2410C>G (p.Leu804Val)
c.2272C>G (p.Leu758Val)
c.*912C>G (n.*912C>G)
c.*1294C>G (n.*1294C>G)
c.1940C>G
c.*1392C>G (n.*1392C>G)
c.*1126C>G (n.*1126C>G)
c.2361C>G (n.2361C>G)
c.2101C>G (p.Leu701Val)
n.6507C>G
c.1366C>G (p.Leu456Val)
c.1027C>G (p.Leu343Val)
c.1909C>G (p.Leu637Val)
c.1624C>G (p.Leu542Val)
c.1066C>G (p.Leu356Val)
c.2197C>G (p.Leu733Val)
 gnomAD v4
4g.102634931G>TCA357756848MANBAc.2410C>A (p.Leu804Met)
c.2272C>A (p.Leu758Met)
c.*912C>A (n.*912C>A)
c.*1294C>A (n.*1294C>A)
c.1940C>A
c.*1392C>A (n.*1392C>A)
c.*1126C>A (n.*1126C>A)
c.2361C>A (n.2361C>A)
c.2101C>A (p.Leu701Met)
n.6507C>A
c.1366C>A (p.Leu456Met)
c.1027C>A (p.Leu343Met)
c.1909C>A (p.Leu637Met)
c.1624C>A (p.Leu542Met)
c.1066C>A (p.Leu356Met)
c.2197C>A (p.Leu733Met)
4g.102634932C>ACA357756849MANBAc.2409G>T (p.Leu803Phe)
c.2271G>T (p.Leu757Phe)
c.*911G>T (n.*911G>T)
c.*1293G>T (n.*1293G>T)
c.1939G>T
c.*1391G>T (n.*1391G>T)
c.*1125G>T (n.*1125G>T)
c.2360G>T (n.2360G>T)
c.2100G>T (p.Leu700Phe)
n.6506G>T
c.1365G>T (p.Leu455Phe)
c.1026G>T (p.Leu342Phe)
c.1908G>T (p.Leu636Phe)
c.1623G>T (p.Leu541Phe)
c.1065G>T (p.Leu355Phe)
c.2196G>T (p.Leu732Phe)
 gnomAD v4
4g.102634932C>GCA357756850MANBAc.2409G>C (p.Leu803Phe)
c.2271G>C (p.Leu757Phe)
c.*911G>C (n.*911G>C)
c.*1293G>C (n.*1293G>C)
c.1939G>C
c.*1391G>C (n.*1391G>C)
c.*1125G>C (n.*1125G>C)
c.2360G>C (n.2360G>C)
c.2100G>C (p.Leu700Phe)
n.6506G>C
c.1365G>C (p.Leu455Phe)
c.1026G>C (p.Leu342Phe)
c.1908G>C (p.Leu636Phe)
c.1623G>C (p.Leu541Phe)
c.1065G>C (p.Leu355Phe)
c.2196G>C (p.Leu732Phe)
4g.102634932C>TCA440807700MANBAc.2409G>A (p.Leu803=)
c.2271G>A (p.Leu757=)
c.*911G>A (n.*911G>A)
c.*1293G>A (n.*1293G>A)
c.1939G>A
c.*1391G>A (n.*1391G>A)
c.*1125G>A (n.*1125G>A)
c.2360G>A (n.2360G>A)
c.2100G>A (p.Leu700=)
n.6506G>A
c.1365G>A (p.Leu455=)
c.1026G>A (p.Leu342=)
c.1908G>A (p.Leu636=)
c.1623G>A (p.Leu541=)
c.1065G>A (p.Leu355=)
c.2196G>A (p.Leu732=)
4g.102634933A>CCA357756851MANBAc.2408T>G (p.Leu803Trp)
c.2270T>G (p.Leu757Trp)
c.*910T>G (n.*910T>G)
c.*1292T>G (n.*1292T>G)
c.1938T>G
c.*1390T>G (n.*1390T>G)
c.*1124T>G (n.*1124T>G)
c.2359T>G (n.2359T>G)
c.2099T>G (p.Leu700Trp)
n.6505T>G
c.1364T>G (p.Leu455Trp)
c.1025T>G (p.Leu342Trp)
c.1907T>G (p.Leu636Trp)
c.1622T>G (p.Leu541Trp)
c.1064T>G (p.Leu355Trp)
c.2195T>G (p.Leu732Trp)
4g.102634933A>GCA357756852MANBAc.2408T>C (p.Leu803Ser)
c.2270T>C (p.Leu757Ser)
c.*910T>C (n.*910T>C)
c.*1292T>C (n.*1292T>C)
c.1938T>C
c.*1390T>C (n.*1390T>C)
c.*1124T>C (n.*1124T>C)
c.2359T>C (n.2359T>C)
c.2099T>C (p.Leu700Ser)
n.6505T>C
c.1364T>C (p.Leu455Ser)
c.1025T>C (p.Leu342Ser)
c.1907T>C (p.Leu636Ser)
c.1622T>C (p.Leu541Ser)
c.1064T>C (p.Leu355Ser)
c.2195T>C (p.Leu732Ser)
4g.102634933A>TCA357756853MANBAc.2408T>A (p.Leu803Ter)
c.2270T>A (p.Leu757Ter)
c.*910T>A (n.*910T>A)
c.*1292T>A (n.*1292T>A)
c.1938T>A
c.*1390T>A (n.*1390T>A)
c.*1124T>A (n.*1124T>A)
c.2359T>A (n.2359T>A)
c.2099T>A (p.Leu700Ter)
n.6505T>A
c.1364T>A (p.Leu455Ter)
c.1025T>A (p.Leu342Ter)
c.1907T>A (p.Leu636Ter)
c.1622T>A (p.Leu541Ter)
c.1064T>A (p.Leu355Ter)
c.2195T>A (p.Leu732Ter)
4g.102634934A=CA1481458322MANBAc.2407T= (p.Leu803=)
c.2269T= (p.Leu757=)
c.*909T= (n.*909T=)
c.*1291T= (n.*1291T=)
c.1937T=
c.*1389T= (n.*1389T=)
c.*1123T= (n.*1123T=)
c.2358T= (n.2358T=)
c.2098T= (p.Leu700=)
n.6504T=
c.1363T= (p.Leu455=)
c.1024T= (p.Leu342=)
c.1906T= (p.Leu636=)
c.1621T= (p.Leu541=)
c.1063T= (p.Leu355=)
c.2194T= (p.Leu732=)
4g.102634934A>CCA357756854MANBAc.2407T>G (p.Leu803Val)
c.2269T>G (p.Leu757Val)
c.*909T>G (n.*909T>G)
c.*1291T>G (n.*1291T>G)
c.1937T>G
c.*1389T>G (n.*1389T>G)
c.*1123T>G (n.*1123T>G)
c.2358T>G (n.2358T>G)
c.2098T>G (p.Leu700Val)
n.6504T>G
c.1363T>G (p.Leu455Val)
c.1024T>G (p.Leu342Val)
c.1906T>G (p.Leu636Val)
c.1621T>G (p.Leu541Val)
c.1063T>G (p.Leu355Val)
c.2194T>G (p.Leu732Val)
4g.102634934A>GCA3026660MANBAc.2407T>C (p.Leu803=)
c.2269T>C (p.Leu757=)
c.*909T>C (n.*909T>C)
c.*1291T>C (n.*1291T>C)
c.1937T>C
c.*1389T>C (n.*1389T>C)
c.*1123T>C (n.*1123T>C)
c.2358T>C (n.2358T>C)
c.2098T>C (p.Leu700=)
n.6504T>C
c.1363T>C (p.Leu455=)
c.1024T>C (p.Leu342=)
c.1906T>C (p.Leu636=)
c.1621T>C (p.Leu541=)
c.1063T>C (p.Leu355=)
c.2194T>C (p.Leu732=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.102634934A>TCA357756855MANBAc.2407T>A (p.Leu803Met)
c.2269T>A (p.Leu757Met)
c.*909T>A (n.*909T>A)
c.*1291T>A (n.*1291T>A)
c.1937T>A
c.*1389T>A (n.*1389T>A)
c.*1123T>A (n.*1123T>A)
c.2358T>A (n.2358T>A)
c.2098T>A (p.Leu700Met)
n.6504T>A
c.1363T>A (p.Leu455Met)
c.1024T>A (p.Leu342Met)
c.1906T>A (p.Leu636Met)
c.1621T>A (p.Leu541Met)
c.1063T>A (p.Leu355Met)
c.2194T>A (p.Leu732Met)
4g.102634935T>ACA357756856MANBAc.2406A>T (p.Glu802Asp)
c.2268A>T (p.Glu756Asp)
c.*908A>T (n.*908A>T)
c.*1290A>T (n.*1290A>T)
c.1936A>T
c.*1388A>T (n.*1388A>T)
c.*1122A>T (n.*1122A>T)
c.2357A>T (n.2357A>T)
c.2097A>T (p.Glu699Asp)
n.6503A>T
c.1362A>T (p.Glu454Asp)
c.1023A>T (p.Glu341Asp)
c.1905A>T (p.Glu635Asp)
c.1620A>T (p.Glu540Asp)
c.1062A>T (p.Glu354Asp)
c.2193A>T (p.Glu731Asp)
4g.102634935T>CCA440807702MANBAc.2406A>G (p.Glu802=)
c.2268A>G (p.Glu756=)
c.*908A>G (n.*908A>G)
c.*1290A>G (n.*1290A>G)
c.1936A>G
c.*1388A>G (n.*1388A>G)
c.*1122A>G (n.*1122A>G)
c.2357A>G (n.2357A>G)
c.2097A>G (p.Glu699=)
n.6503A>G
c.1362A>G (p.Glu454=)
c.1023A>G (p.Glu341=)
c.1905A>G (p.Glu635=)
c.1620A>G (p.Glu540=)
c.1062A>G (p.Glu354=)
c.2193A>G (p.Glu731=)
4g.102634935T>GCA357756857MANBAc.2406A>C (p.Glu802Asp)
c.2268A>C (p.Glu756Asp)
c.*908A>C (n.*908A>C)
c.*1290A>C (n.*1290A>C)
c.1936A>C
c.*1388A>C (n.*1388A>C)
c.*1122A>C (n.*1122A>C)
c.2357A>C (n.2357A>C)
c.2097A>C (p.Glu699Asp)
n.6503A>C
c.1362A>C (p.Glu454Asp)
c.1023A>C (p.Glu341Asp)
c.1905A>C (p.Glu635Asp)
c.1620A>C (p.Glu540Asp)
c.1062A>C (p.Glu354Asp)
c.2193A>C (p.Glu731Asp)
4g.102634936T>ACA357756858MANBAc.2405A>T (p.Glu802Val)
c.2267A>T (p.Glu756Val)
c.*907A>T (n.*907A>T)
c.*1289A>T (n.*1289A>T)
c.1935A>T
c.*1387A>T (n.*1387A>T)
c.*1121A>T (n.*1121A>T)
c.2356A>T (n.2356A>T)
c.2096A>T (p.Glu699Val)
n.6502A>T
c.1361A>T (p.Glu454Val)
c.1022A>T (p.Glu341Val)
c.1904A>T (p.Glu635Val)
c.1619A>T (p.Glu540Val)
c.1061A>T (p.Glu354Val)
c.2192A>T (p.Glu731Val)
4g.102634936T>CCA357756859MANBAc.2405A>G (p.Glu802Gly)
c.2267A>G (p.Glu756Gly)
c.*907A>G (n.*907A>G)
c.*1289A>G (n.*1289A>G)
c.1935A>G
c.*1387A>G (n.*1387A>G)
c.*1121A>G (n.*1121A>G)
c.2356A>G (n.2356A>G)
c.2096A>G (p.Glu699Gly)
n.6502A>G
c.1361A>G (p.Glu454Gly)
c.1022A>G (p.Glu341Gly)
c.1904A>G (p.Glu635Gly)
c.1619A>G (p.Glu540Gly)
c.1061A>G (p.Glu354Gly)
c.2192A>G (p.Glu731Gly)
4g.102634936T>GCA357756860MANBAc.2405A>C (p.Glu802Ala)
c.2267A>C (p.Glu756Ala)
c.*907A>C (n.*907A>C)
c.*1289A>C (n.*1289A>C)
c.1935A>C
c.*1387A>C (n.*1387A>C)
c.*1121A>C (n.*1121A>C)
c.2356A>C (n.2356A>C)
c.2096A>C (p.Glu699Ala)
n.6502A>C
c.1361A>C (p.Glu454Ala)
c.1022A>C (p.Glu341Ala)
c.1904A>C (p.Glu635Ala)
c.1619A>C (p.Glu540Ala)
c.1061A>C (p.Glu354Ala)
c.2192A>C (p.Glu731Ala)
4g.102634937C>ACA357756861MANBAc.2404G>T (p.Glu802Ter)
c.2266G>T (p.Glu756Ter)
c.*906G>T (n.*906G>T)
c.*1288G>T (n.*1288G>T)
c.1934G>T
c.*1386G>T (n.*1386G>T)
c.*1120G>T (n.*1120G>T)
c.2355G>T (n.2355G>T)
c.2095G>T (p.Glu699Ter)
n.6501G>T
c.1360G>T (p.Glu454Ter)
c.1021G>T (p.Glu341Ter)
c.1903G>T (p.Glu635Ter)
c.1618G>T (p.Glu540Ter)
c.1060G>T (p.Glu354Ter)
c.2191G>T (p.Glu731Ter)
4g.102634937C>GCA357756862MANBAc.2404G>C (p.Glu802Gln)
c.2266G>C (p.Glu756Gln)
c.*906G>C (n.*906G>C)
c.*1288G>C (n.*1288G>C)
c.1934G>C
c.*1386G>C (n.*1386G>C)
c.*1120G>C (n.*1120G>C)
c.2355G>C (n.2355G>C)
c.2095G>C (p.Glu699Gln)
n.6501G>C
c.1360G>C (p.Glu454Gln)
c.1021G>C (p.Glu341Gln)
c.1903G>C (p.Glu635Gln)
c.1618G>C (p.Glu540Gln)
c.1060G>C (p.Glu354Gln)
c.2191G>C (p.Glu731Gln)
4g.102634937C>TCA357756863MANBAc.2404G>A (p.Glu802Lys)
c.2266G>A (p.Glu756Lys)
c.*906G>A (n.*906G>A)
c.*1288G>A (n.*1288G>A)
c.1934G>A
c.*1386G>A (n.*1386G>A)
c.*1120G>A (n.*1120G>A)
c.2355G>A (n.2355G>A)
c.2095G>A (p.Glu699Lys)
n.6501G>A
c.1360G>A (p.Glu454Lys)
c.1021G>A (p.Glu341Lys)
c.1903G>A (p.Glu635Lys)
c.1618G>A (p.Glu540Lys)
c.1060G>A (p.Glu354Lys)
c.2191G>A (p.Glu731Lys)
4g.102634938A=CA1481458323MANBAc.2403T= (p.Ser801=)
c.2265T= (p.Ser755=)
c.*905T= (n.*905T=)
c.*1287T= (n.*1287T=)
c.1933T=
c.*1385T= (n.*1385T=)
c.*1119T= (n.*1119T=)
c.2354T= (n.2354T=)
c.2094T= (p.Ser698=)
n.6500T=
c.1359T= (p.Ser453=)
c.1020T= (p.Ser340=)
c.1902T= (p.Ser634=)
c.1617T= (p.Ser539=)
c.1059T= (p.Ser353=)
c.2190T= (p.Ser730=)
4g.102634938A>CCA440807706MANBAc.2403T>G (p.Ser801=)
c.2265T>G (p.Ser755=)
c.*905T>G (n.*905T>G)
c.*1287T>G (n.*1287T>G)
c.1933T>G
c.*1385T>G (n.*1385T>G)
c.*1119T>G (n.*1119T>G)
c.2354T>G (n.2354T>G)
c.2094T>G (p.Ser698=)
n.6500T>G
c.1359T>G (p.Ser453=)
c.1020T>G (p.Ser340=)
c.1902T>G (p.Ser634=)
c.1617T>G (p.Ser539=)
c.1059T>G (p.Ser353=)
c.2190T>G (p.Ser730=)
4g.102634938A>GCA3026661MANBAc.2403T>C (p.Ser801=)
c.2265T>C (p.Ser755=)
c.*905T>C (n.*905T>C)
c.*1287T>C (n.*1287T>C)
c.1933T>C
c.*1385T>C (n.*1385T>C)
c.*1119T>C (n.*1119T>C)
c.2354T>C (n.2354T>C)
c.2094T>C (p.Ser698=)
n.6500T>C
c.1359T>C (p.Ser453=)
c.1020T>C (p.Ser340=)
c.1902T>C (p.Ser634=)
c.1617T>C (p.Ser539=)
c.1059T>C (p.Ser353=)
c.2190T>C (p.Ser730=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.102634938A>TCA440807705MANBAc.2403T>A (p.Ser801=)
c.2265T>A (p.Ser755=)
c.*905T>A (n.*905T>A)
c.*1287T>A (n.*1287T>A)
c.1933T>A
c.*1385T>A (n.*1385T>A)
c.*1119T>A (n.*1119T>A)
c.2354T>A (n.2354T>A)
c.2094T>A (p.Ser698=)
n.6500T>A
c.1359T>A (p.Ser453=)
c.1020T>A (p.Ser340=)
c.1902T>A (p.Ser634=)
c.1617T>A (p.Ser539=)
c.1059T>A (p.Ser353=)
c.2190T>A (p.Ser730=)
4g.102634939G>ACA357756864MANBAc.2402C>T (p.Ser801Phe)
c.2264C>T (p.Ser755Phe)
c.*904C>T (n.*904C>T)
c.*1286C>T (n.*1286C>T)
c.1932C>T
c.*1384C>T (n.*1384C>T)
c.*1118C>T (n.*1118C>T)
c.2353C>T (n.2353C>T)
c.2093C>T (p.Ser698Phe)
n.6499C>T
c.1358C>T (p.Ser453Phe)
c.1019C>T (p.Ser340Phe)
c.1901C>T (p.Ser634Phe)
c.1616C>T (p.Ser539Phe)
c.1058C>T (p.Ser353Phe)
c.2189C>T (p.Ser730Phe)
 gnomAD v4
4g.102634939G>CCA357756865MANBAc.2402C>G (p.Ser801Cys)
c.2264C>G (p.Ser755Cys)
c.*904C>G (n.*904C>G)
c.*1286C>G (n.*1286C>G)
c.1932C>G
c.*1384C>G (n.*1384C>G)
c.*1118C>G (n.*1118C>G)
c.2353C>G (n.2353C>G)
c.2093C>G (p.Ser698Cys)
n.6499C>G
c.1358C>G (p.Ser453Cys)
c.1019C>G (p.Ser340Cys)
c.1901C>G (p.Ser634Cys)
c.1616C>G (p.Ser539Cys)
c.1058C>G (p.Ser353Cys)
c.2189C>G (p.Ser730Cys)
 dbSNP
4g.102634939G=CA1481458324MANBAc.2402C= (p.Ser801=)
c.2264C= (p.Ser755=)
c.*904C= (n.*904C=)
c.*1286C= (n.*1286C=)
c.1932C=
c.*1384C= (n.*1384C=)
c.*1118C= (n.*1118C=)
c.2353C= (n.2353C=)
c.2093C= (p.Ser698=)
n.6499C=
c.1358C= (p.Ser453=)
c.1019C= (p.Ser340=)
c.1901C= (p.Ser634=)
c.1616C= (p.Ser539=)
c.1058C= (p.Ser353=)
c.2189C= (p.Ser730=)
4g.102634939G>TCA357756866MANBAc.2402C>A (p.Ser801Tyr)
c.2264C>A (p.Ser755Tyr)
c.*904C>A (n.*904C>A)
c.*1286C>A (n.*1286C>A)
c.1932C>A
c.*1384C>A (n.*1384C>A)
c.*1118C>A (n.*1118C>A)
c.2353C>A (n.2353C>A)
c.2093C>A (p.Ser698Tyr)
n.6499C>A
c.1358C>A (p.Ser453Tyr)
c.1019C>A (p.Ser340Tyr)
c.1901C>A (p.Ser634Tyr)
c.1616C>A (p.Ser539Tyr)
c.1058C>A (p.Ser353Tyr)
c.2189C>A (p.Ser730Tyr)
4g.102634940A>CCA357756867MANBAc.2401T>G (p.Ser801Ala)
c.2263T>G (p.Ser755Ala)
c.*903T>G (n.*903T>G)
c.*1285T>G (n.*1285T>G)
c.1931T>G
c.*1383T>G (n.*1383T>G)
c.*1117T>G (n.*1117T>G)
c.2352T>G (n.2352T>G)
c.2092T>G (p.Ser698Ala)
n.6498T>G
c.1357T>G (p.Ser453Ala)
c.1018T>G (p.Ser340Ala)
c.1900T>G (p.Ser634Ala)
c.1615T>G (p.Ser539Ala)
c.1057T>G (p.Ser353Ala)
c.2188T>G (p.Ser730Ala)
4g.102634940A>GCA357756868MANBAc.2401T>C (p.Ser801Pro)
c.2263T>C (p.Ser755Pro)
c.*903T>C (n.*903T>C)
c.*1285T>C (n.*1285T>C)
c.1931T>C
c.*1383T>C (n.*1383T>C)
c.*1117T>C (n.*1117T>C)
c.2352T>C (n.2352T>C)
c.2092T>C (p.Ser698Pro)
n.6498T>C
c.1357T>C (p.Ser453Pro)
c.1018T>C (p.Ser340Pro)
c.1900T>C (p.Ser634Pro)
c.1615T>C (p.Ser539Pro)
c.1057T>C (p.Ser353Pro)
c.2188T>C (p.Ser730Pro)
4g.102634940A>TCA357756869MANBAc.2401T>A (p.Ser801Thr)
c.2263T>A (p.Ser755Thr)
c.*903T>A (n.*903T>A)
c.*1285T>A (n.*1285T>A)
c.1931T>A
c.*1383T>A (n.*1383T>A)
c.*1117T>A (n.*1117T>A)
c.2352T>A (n.2352T>A)
c.2092T>A (p.Ser698Thr)
n.6498T>A
c.1357T>A (p.Ser453Thr)
c.1018T>A (p.Ser340Thr)
c.1900T>A (p.Ser634Thr)
c.1615T>A (p.Ser539Thr)
c.1057T>A (p.Ser353Thr)
c.2188T>A (p.Ser730Thr)
4g.102634941C>ACA440807709MANBAc.2400G>T (p.Val800=)
c.2262G>T (p.Val754=)
c.*902G>T (n.*902G>T)
c.*1284G>T (n.*1284G>T)
c.1930G>T
c.*1382G>T (n.*1382G>T)
c.*1116G>T (n.*1116G>T)
c.2351G>T (n.2351G>T)
c.2091G>T (p.Val697=)
n.6497G>T
c.1356G>T (p.Val452=)
c.1017G>T (p.Val339=)
c.1899G>T (p.Val633=)
c.1614G>T (p.Val538=)
c.1056G>T (p.Val352=)
c.2187G>T (p.Val729=)
4g.102634941C>GCA440807712MANBAc.2400G>C (p.Val800=)
c.2262G>C (p.Val754=)
c.*902G>C (n.*902G>C)
c.*1284G>C (n.*1284G>C)
c.1930G>C
c.*1382G>C (n.*1382G>C)
c.*1116G>C (n.*1116G>C)
c.2351G>C (n.2351G>C)
c.2091G>C (p.Val697=)
n.6497G>C
c.1356G>C (p.Val452=)
c.1017G>C (p.Val339=)
c.1899G>C (p.Val633=)
c.1614G>C (p.Val538=)
c.1056G>C (p.Val352=)
c.2187G>C (p.Val729=)
4g.102634941C>TCA440807711MANBAc.2400G>A (p.Val800=)
c.2262G>A (p.Val754=)
c.*902G>A (n.*902G>A)
c.*1284G>A (n.*1284G>A)
c.1930G>A
c.*1382G>A (n.*1382G>A)
c.*1116G>A (n.*1116G>A)
c.2351G>A (n.2351G>A)
c.2091G>A (p.Val697=)
n.6497G>A
c.1356G>A (p.Val452=)
c.1017G>A (p.Val339=)
c.1899G>A (p.Val633=)
c.1614G>A (p.Val538=)
c.1056G>A (p.Val352=)
c.2187G>A (p.Val729=)
4g.102634942A>CCA357756870MANBAc.2399T>G (p.Val800Gly)
c.2261T>G (p.Val754Gly)
c.*901T>G (n.*901T>G)
c.*1283T>G (n.*1283T>G)
c.1929T>G
c.*1381T>G (n.*1381T>G)
c.*1115T>G (n.*1115T>G)
c.2350T>G (n.2350T>G)
c.2090T>G (p.Val697Gly)
n.6496T>G
c.1355T>G (p.Val452Gly)
c.1016T>G (p.Val339Gly)
c.1898T>G (p.Val633Gly)
c.1613T>G (p.Val538Gly)
c.1055T>G (p.Val352Gly)
c.2186T>G (p.Val729Gly)
4g.102634942A>GCA357756871MANBAc.2399T>C (p.Val800Ala)
c.2261T>C (p.Val754Ala)
c.*901T>C (n.*901T>C)
c.*1283T>C (n.*1283T>C)
c.1929T>C
c.*1381T>C (n.*1381T>C)
c.*1115T>C (n.*1115T>C)
c.2350T>C (n.2350T>C)
c.2090T>C (p.Val697Ala)
n.6496T>C
c.1355T>C (p.Val452Ala)
c.1016T>C (p.Val339Ala)
c.1898T>C (p.Val633Ala)
c.1613T>C (p.Val538Ala)
c.1055T>C (p.Val352Ala)
c.2186T>C (p.Val729Ala)
4g.102634942A>TCA357756872MANBAc.2399T>A (p.Val800Glu)
c.2261T>A (p.Val754Glu)
c.*901T>A (n.*901T>A)
c.*1283T>A (n.*1283T>A)
c.1929T>A
c.*1381T>A (n.*1381T>A)
c.*1115T>A (n.*1115T>A)
c.2350T>A (n.2350T>A)
c.2090T>A (p.Val697Glu)
n.6496T>A
c.1355T>A (p.Val452Glu)
c.1016T>A (p.Val339Glu)
c.1898T>A (p.Val633Glu)
c.1613T>A (p.Val538Glu)
c.1055T>A (p.Val352Glu)
c.2186T>A (p.Val729Glu)
4g.102634943C>ACA357756873MANBAc.2398G>T (p.Val800Leu)
c.2260G>T (p.Val754Leu)
c.*900G>T (n.*900G>T)
c.*1282G>T (n.*1282G>T)
c.1928G>T
c.*1380G>T (n.*1380G>T)
c.*1114G>T (n.*1114G>T)
c.2349G>T (n.2349G>T)
c.2089G>T (p.Val697Leu)
n.6495G>T
c.1354G>T (p.Val452Leu)
c.1015G>T (p.Val339Leu)
c.1897G>T (p.Val633Leu)
c.1612G>T (p.Val538Leu)
c.1054G>T (p.Val352Leu)
c.2185G>T (p.Val729Leu)
4g.102634943C=CA1481458325MANBAc.2398G= (p.Val800=)
c.2260G= (p.Val754=)
c.*900G= (n.*900G=)
c.*1282G= (n.*1282G=)
c.1928G=
c.*1380G= (n.*1380G=)
c.*1114G= (n.*1114G=)
c.2349G= (n.2349G=)
c.2089G= (p.Val697=)
n.6495G=
c.1354G= (p.Val452=)
c.1015G= (p.Val339=)
c.1897G= (p.Val633=)
c.1612G= (p.Val538=)
c.1054G= (p.Val352=)
c.2185G= (p.Val729=)
4g.102634943C>GCA357756874MANBAc.2398G>C (p.Val800Leu)
c.2260G>C (p.Val754Leu)
c.*900G>C (n.*900G>C)
c.*1282G>C (n.*1282G>C)
c.1928G>C
c.*1380G>C (n.*1380G>C)
c.*1114G>C (n.*1114G>C)
c.2349G>C (n.2349G>C)
c.2089G>C (p.Val697Leu)
n.6495G>C
c.1354G>C (p.Val452Leu)
c.1015G>C (p.Val339Leu)
c.1897G>C (p.Val633Leu)
c.1612G>C (p.Val538Leu)
c.1054G>C (p.Val352Leu)
c.2185G>C (p.Val729Leu)
 gnomAD v4
4g.102634943C>TCA357756875MANBAc.2398G>A (p.Val800Met)
c.2260G>A (p.Val754Met)
c.*900G>A (n.*900G>A)
c.*1282G>A (n.*1282G>A)
c.1928G>A
c.*1380G>A (n.*1380G>A)
c.*1114G>A (n.*1114G>A)
c.2349G>A (n.2349G>A)
c.2089G>A (p.Val697Met)
n.6495G>A
c.1354G>A (p.Val452Met)
c.1015G>A (p.Val339Met)
c.1897G>A (p.Val633Met)
c.1612G>A (p.Val538Met)
c.1054G>A (p.Val352Met)
c.2185G>A (p.Val729Met)
 dbSNP gnomAD v4
4g.102634944T>ACA440807713MANBAc.2397A>T (p.Pro799=)
c.2259A>T (p.Pro753=)
c.*899A>T (n.*899A>T)
c.*1281A>T (n.*1281A>T)
c.1927A>T
c.*1379A>T (n.*1379A>T)
c.*1113A>T (n.*1113A>T)
c.2348A>T (n.2348A>T)
c.2088A>T (p.Pro696=)
n.6494A>T
c.1353A>T (p.Pro451=)
c.1014A>T (p.Pro338=)
c.1896A>T (p.Pro632=)
c.1611A>T (p.Pro537=)
c.1053A>T (p.Pro351=)
c.2184A>T (p.Pro728=)
4g.102634944T>CCA440807714MANBAc.2397A>G (p.Pro799=)
c.2259A>G (p.Pro753=)
c.*899A>G (n.*899A>G)
c.*1281A>G (n.*1281A>G)
c.1927A>G
c.*1379A>G (n.*1379A>G)
c.*1113A>G (n.*1113A>G)
c.2348A>G (n.2348A>G)
c.2088A>G (p.Pro696=)
n.6494A>G
c.1353A>G (p.Pro451=)
c.1014A>G (p.Pro338=)
c.1896A>G (p.Pro632=)
c.1611A>G (p.Pro537=)
c.1053A>G (p.Pro351=)
c.2184A>G (p.Pro728=)
4g.102634944T>GCA440807715MANBAc.2397A>C (p.Pro799=)
c.2259A>C (p.Pro753=)
c.*899A>C (n.*899A>C)
c.*1281A>C (n.*1281A>C)
c.1927A>C
c.*1379A>C (n.*1379A>C)
c.*1113A>C (n.*1113A>C)
c.2348A>C (n.2348A>C)
c.2088A>C (p.Pro696=)
n.6494A>C
c.1353A>C (p.Pro451=)
c.1014A>C (p.Pro338=)
c.1896A>C (p.Pro632=)
c.1611A>C (p.Pro537=)
c.1053A>C (p.Pro351=)
c.2184A>C (p.Pro728=)
4g.102634945G>ACA357756878MANBAc.2396C>T (p.Pro799Leu)
c.2258C>T (p.Pro753Leu)
c.*898C>T (n.*898C>T)
c.*1280C>T (n.*1280C>T)
c.1926C>T
c.*1378C>T (n.*1378C>T)
c.*1112C>T (n.*1112C>T)
c.2347C>T (n.2347C>T)
c.2087C>T (p.Pro696Leu)
n.6493C>T
c.1352C>T (p.Pro451Leu)
c.1013C>T (p.Pro338Leu)
c.1895C>T (p.Pro632Leu)
c.1610C>T (p.Pro537Leu)
c.1052C>T (p.Pro351Leu)
c.2183C>T (p.Pro728Leu)
4g.102634945G>CCA357756877MANBAc.2396C>G (p.Pro799Arg)
c.2258C>G (p.Pro753Arg)
c.*898C>G (n.*898C>G)
c.*1280C>G (n.*1280C>G)
c.1926C>G
c.*1378C>G (n.*1378C>G)
c.*1112C>G (n.*1112C>G)
c.2347C>G (n.2347C>G)
c.2087C>G (p.Pro696Arg)
n.6493C>G
c.1352C>G (p.Pro451Arg)
c.1013C>G (p.Pro338Arg)
c.1895C>G (p.Pro632Arg)
c.1610C>G (p.Pro537Arg)
c.1052C>G (p.Pro351Arg)
c.2183C>G (p.Pro728Arg)
4g.102634945G=CA1481458326MANBAc.2396C= (p.Pro799=)
c.2258C= (p.Pro753=)
c.*898C= (n.*898C=)
c.*1280C= (n.*1280C=)
c.1926C=
c.*1378C= (n.*1378C=)
c.*1112C= (n.*1112C=)
c.2347C= (n.2347C=)
c.2087C= (p.Pro696=)
n.6493C=
c.1352C= (p.Pro451=)
c.1013C= (p.Pro338=)
c.1895C= (p.Pro632=)
c.1610C= (p.Pro537=)
c.1052C= (p.Pro351=)
c.2183C= (p.Pro728=)
4g.102634945G>TCA357756876MANBAc.2396C>A (p.Pro799Gln)
c.2258C>A (p.Pro753Gln)
c.*898C>A (n.*898C>A)
c.*1280C>A (n.*1280C>A)
c.1926C>A
c.*1378C>A (n.*1378C>A)
c.*1112C>A (n.*1112C>A)
c.2347C>A (n.2347C>A)
c.2087C>A (p.Pro696Gln)
n.6493C>A
c.1352C>A (p.Pro451Gln)
c.1013C>A (p.Pro338Gln)
c.1895C>A (p.Pro632Gln)
c.1610C>A (p.Pro537Gln)
c.1052C>A (p.Pro351Gln)
c.2183C>A (p.Pro728Gln)
 dbSNP
4g.102634946G>ACA357756879MANBAc.2395C>T (p.Pro799Ser)
c.2257C>T (p.Pro753Ser)
c.*897C>T (n.*897C>T)
c.*1279C>T (n.*1279C>T)
c.1925C>T
c.*1377C>T (n.*1377C>T)
c.*1111C>T (n.*1111C>T)
c.2346C>T (n.2346C>T)
c.2086C>T (p.Pro696Ser)
n.6492C>T
c.1351C>T (p.Pro451Ser)
c.1012C>T (p.Pro338Ser)
c.1894C>T (p.Pro632Ser)
c.1609C>T (p.Pro537Ser)
c.1051C>T (p.Pro351Ser)
c.2182C>T (p.Pro728Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.102634946G>CCA357756880MANBAc.2395C>G (p.Pro799Ala)
c.2257C>G (p.Pro753Ala)
c.*897C>G (n.*897C>G)
c.*1279C>G (n.*1279C>G)
c.1925C>G
c.*1377C>G (n.*1377C>G)
c.*1111C>G (n.*1111C>G)
c.2346C>G (n.2346C>G)
c.2086C>G (p.Pro696Ala)
n.6492C>G
c.1351C>G (p.Pro451Ala)
c.1012C>G (p.Pro338Ala)
c.1894C>G (p.Pro632Ala)
c.1609C>G (p.Pro537Ala)
c.1051C>G (p.Pro351Ala)
c.2182C>G (p.Pro728Ala)
4g.102634946G=CA1481458327MANBAc.2395C= (p.Pro799=)
c.2257C= (p.Pro753=)
c.*897C= (n.*897C=)
c.*1279C= (n.*1279C=)
c.1925C=
c.*1377C= (n.*1377C=)
c.*1111C= (n.*1111C=)
c.2346C= (n.2346C=)
c.2086C= (p.Pro696=)
n.6492C=
c.1351C= (p.Pro451=)
c.1012C= (p.Pro338=)
c.1894C= (p.Pro632=)
c.1609C= (p.Pro537=)
c.1051C= (p.Pro351=)
c.2182C= (p.Pro728=)
4g.102634946G>TCA357756881MANBAc.2395C>A (p.Pro799Thr)
c.2257C>A (p.Pro753Thr)
c.*897C>A (n.*897C>A)
c.*1279C>A (n.*1279C>A)
c.1925C>A
c.*1377C>A (n.*1377C>A)
c.*1111C>A (n.*1111C>A)
c.2346C>A (n.2346C>A)
c.2086C>A (p.Pro696Thr)
n.6492C>A
c.1351C>A (p.Pro451Thr)
c.1012C>A (p.Pro338Thr)
c.1894C>A (p.Pro632Thr)
c.1609C>A (p.Pro537Thr)
c.1051C>A (p.Pro351Thr)
c.2182C>A (p.Pro728Thr)
4g.102634947C>ACA357756882MANBAc.2394G>T (p.Glu798Asp)
c.2256G>T (p.Glu752Asp)
c.*896G>T (n.*896G>T)
c.*1278G>T (n.*1278G>T)
c.1924G>T
c.*1376G>T (n.*1376G>T)
c.*1110G>T (n.*1110G>T)
c.2345G>T (n.2345G>T)
c.2085G>T (p.Glu695Asp)
n.6491G>T
c.1350G>T (p.Glu450Asp)
c.1011G>T (p.Glu337Asp)
c.1893G>T (p.Glu631Asp)
c.1608G>T (p.Glu536Asp)
c.1050G>T (p.Glu350Asp)
c.2181G>T (p.Glu727Asp)
4g.102634947C=CA1481458328MANBAc.2394G= (p.Glu798=)
c.2256G= (p.Glu752=)
c.*896G= (n.*896G=)
c.*1278G= (n.*1278G=)
c.1924G=
c.*1376G= (n.*1376G=)
c.*1110G= (n.*1110G=)
c.2345G= (n.2345G=)
c.2085G= (p.Glu695=)
n.6491G=
c.1350G= (p.Glu450=)
c.1011G= (p.Glu337=)
c.1893G= (p.Glu631=)
c.1608G= (p.Glu536=)
c.1050G= (p.Glu350=)
c.2181G= (p.Glu727=)
4g.102634947C>GCA357756883MANBAc.2394G>C (p.Glu798Asp)
c.2256G>C (p.Glu752Asp)
c.*896G>C (n.*896G>C)
c.*1278G>C (n.*1278G>C)
c.1924G>C
c.*1376G>C (n.*1376G>C)
c.*1110G>C (n.*1110G>C)
c.2345G>C (n.2345G>C)
c.2085G>C (p.Glu695Asp)
n.6491G>C
c.1350G>C (p.Glu450Asp)
c.1011G>C (p.Glu337Asp)
c.1893G>C (p.Glu631Asp)
c.1608G>C (p.Glu536Asp)
c.1050G>C (p.Glu350Asp)
c.2181G>C (p.Glu727Asp)
 dbSNP
4g.102634947C>TCA440807717MANBAc.2394G>A (p.Glu798=)
c.2256G>A (p.Glu752=)
c.*896G>A (n.*896G>A)
c.*1278G>A (n.*1278G>A)
c.1924G>A
c.*1376G>A (n.*1376G>A)
c.*1110G>A (n.*1110G>A)
c.2345G>A (n.2345G>A)
c.2085G>A (p.Glu695=)
n.6491G>A
c.1350G>A (p.Glu450=)
c.1011G>A (p.Glu337=)
c.1893G>A (p.Glu631=)
c.1608G>A (p.Glu536=)
c.1050G>A (p.Glu350=)
c.2181G>A (p.Glu727=)
4g.102634948T>ACA3026662MANBAc.2393A>T (p.Glu798Val)
c.2255A>T (p.Glu752Val)
c.*895A>T (n.*895A>T)
c.*1277A>T (n.*1277A>T)
c.1923A>T
c.*1375A>T (n.*1375A>T)
c.*1109A>T (n.*1109A>T)
c.2344A>T (n.2344A>T)
c.2084A>T (p.Glu695Val)
n.6490A>T
c.1349A>T (p.Glu450Val)
c.1010A>T (p.Glu337Val)
c.1892A>T (p.Glu631Val)
c.1607A>T (p.Glu536Val)
c.1049A>T (p.Glu350Val)
c.2180A>T (p.Glu727Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.102634948T>CCA357756884MANBAc.2393A>G (p.Glu798Gly)
c.2255A>G (p.Glu752Gly)
c.*895A>G (n.*895A>G)
c.*1277A>G (n.*1277A>G)
c.1923A>G
c.*1375A>G (n.*1375A>G)
c.*1109A>G (n.*1109A>G)
c.2344A>G (n.2344A>G)
c.2084A>G (p.Glu695Gly)
n.6490A>G
c.1349A>G (p.Glu450Gly)
c.1010A>G (p.Glu337Gly)
c.1892A>G (p.Glu631Gly)
c.1607A>G (p.Glu536Gly)
c.1049A>G (p.Glu350Gly)
c.2180A>G (p.Glu727Gly)
4g.102634948T>GCA357756885MANBAc.2393A>C (p.Glu798Ala)
c.2255A>C (p.Glu752Ala)
c.*895A>C (n.*895A>C)
c.*1277A>C (n.*1277A>C)
c.1923A>C
c.*1375A>C (n.*1375A>C)
c.*1109A>C (n.*1109A>C)
c.2344A>C (n.2344A>C)
c.2084A>C (p.Glu695Ala)
n.6490A>C
c.1349A>C (p.Glu450Ala)
c.1010A>C (p.Glu337Ala)
c.1892A>C (p.Glu631Ala)
c.1607A>C (p.Glu536Ala)
c.1049A>C (p.Glu350Ala)
c.2180A>C (p.Glu727Ala)
4g.102634948T=CA1481458329MANBAc.2393A= (p.Glu798=)
c.2255A= (p.Glu752=)
c.*895A= (n.*895A=)
c.*1277A= (n.*1277A=)
c.1923A=
c.*1375A= (n.*1375A=)
c.*1109A= (n.*1109A=)
c.2344A= (n.2344A=)
c.2084A= (p.Glu695=)
n.6490A=
c.1349A= (p.Glu450=)
c.1010A= (p.Glu337=)
c.1892A= (p.Glu631=)
c.1607A= (p.Glu536=)
c.1049A= (p.Glu350=)
c.2180A= (p.Glu727=)
4g.102634949C>ACA357756886MANBAc.2392G>T (p.Glu798Ter)
c.2254G>T (p.Glu752Ter)
c.*894G>T (n.*894G>T)
c.*1276G>T (n.*1276G>T)
c.1922G>T
c.*1374G>T (n.*1374G>T)
c.*1108G>T (n.*1108G>T)
c.2343G>T (n.2343G>T)
c.2083G>T (p.Glu695Ter)
n.6489G>T
c.1348G>T (p.Glu450Ter)
c.1009G>T (p.Glu337Ter)
c.1891G>T (p.Glu631Ter)
c.1606G>T (p.Glu536Ter)
c.1048G>T (p.Glu350Ter)
c.2179G>T (p.Glu727Ter)
4g.102634949C>GCA357756887MANBAc.2392G>C (p.Glu798Gln)
c.2254G>C (p.Glu752Gln)
c.*894G>C (n.*894G>C)
c.*1276G>C (n.*1276G>C)
c.1922G>C
c.*1374G>C (n.*1374G>C)
c.*1108G>C (n.*1108G>C)
c.2343G>C (n.2343G>C)
c.2083G>C (p.Glu695Gln)
n.6489G>C
c.1348G>C (p.Glu450Gln)
c.1009G>C (p.Glu337Gln)
c.1891G>C (p.Glu631Gln)
c.1606G>C (p.Glu536Gln)
c.1048G>C (p.Glu350Gln)
c.2179G>C (p.Glu727Gln)
4g.102634949C>TCA357756888MANBAc.2392G>A (p.Glu798Lys)
c.2254G>A (p.Glu752Lys)
c.*894G>A (n.*894G>A)
c.*1276G>A (n.*1276G>A)
c.1922G>A
c.*1374G>A (n.*1374G>A)
c.*1108G>A (n.*1108G>A)
c.2343G>A (n.2343G>A)
c.2083G>A (p.Glu695Lys)
n.6489G>A
c.1348G>A (p.Glu450Lys)
c.1009G>A (p.Glu337Lys)
c.1891G>A (p.Glu631Lys)
c.1606G>A (p.Glu536Lys)
c.1048G>A (p.Glu350Lys)
c.2179G>A (p.Glu727Lys)
4g.102634950C>ACA357756889MANBAc.2391G>T (p.Glu797Asp)
c.2253G>T (p.Glu751Asp)
c.*893G>T (n.*893G>T)
c.*1275G>T (n.*1275G>T)
c.1921G>T
c.*1373G>T (n.*1373G>T)
c.*1107G>T (n.*1107G>T)
c.2342G>T (n.2342G>T)
c.2082G>T (p.Glu694Asp)
n.6488G>T
c.1347G>T (p.Glu449Asp)
c.1008G>T (p.Glu336Asp)
c.1890G>T (p.Glu630Asp)
c.1605G>T (p.Glu535Asp)
c.1047G>T (p.Glu349Asp)
c.2178G>T (p.Glu726Asp)
 gnomAD v4
4g.102634950C>GCA357756890MANBAc.2391G>C (p.Glu797Asp)
c.2253G>C (p.Glu751Asp)
c.*893G>C (n.*893G>C)
c.*1275G>C (n.*1275G>C)
c.1921G>C
c.*1373G>C (n.*1373G>C)
c.*1107G>C (n.*1107G>C)
c.2342G>C (n.2342G>C)
c.2082G>C (p.Glu694Asp)
n.6488G>C
c.1347G>C (p.Glu449Asp)
c.1008G>C (p.Glu336Asp)
c.1890G>C (p.Glu630Asp)
c.1605G>C (p.Glu535Asp)
c.1047G>C (p.Glu349Asp)
c.2178G>C (p.Glu726Asp)
4g.102634950C>TCA440807719MANBAc.2391G>A (p.Glu797=)
c.2253G>A (p.Glu751=)
c.*893G>A (n.*893G>A)
c.*1275G>A (n.*1275G>A)
c.1921G>A
c.*1373G>A (n.*1373G>A)
c.*1107G>A (n.*1107G>A)
c.2342G>A (n.2342G>A)
c.2082G>A (p.Glu694=)
n.6488G>A
c.1347G>A (p.Glu449=)
c.1008G>A (p.Glu336=)
c.1890G>A (p.Glu630=)
c.1605G>A (p.Glu535=)
c.1047G>A (p.Glu349=)
c.2178G>A (p.Glu726=)
 ClinVar COSMIC
4g.102634951T>ACA357756893MANBAc.2390A>T (p.Glu797Val)
c.2252A>T (p.Glu751Val)
c.*892A>T (n.*892A>T)
c.*1274A>T (n.*1274A>T)
c.1920A>T
c.*1372A>T (n.*1372A>T)
c.*1106A>T (n.*1106A>T)
c.2341A>T (n.2341A>T)
c.2081A>T (p.Glu694Val)
n.6487A>T
c.1346A>T (p.Glu449Val)
c.1007A>T (p.Glu336Val)
c.1889A>T (p.Glu630Val)
c.1604A>T (p.Glu535Val)
c.1046A>T (p.Glu349Val)
c.2177A>T (p.Glu726Val)
4g.102634951T>CCA357756891MANBAc.2390A>G (p.Glu797Gly)
c.2252A>G (p.Glu751Gly)
c.*892A>G (n.*892A>G)
c.*1274A>G (n.*1274A>G)
c.1920A>G
c.*1372A>G (n.*1372A>G)
c.*1106A>G (n.*1106A>G)
c.2341A>G (n.2341A>G)
c.2081A>G (p.Glu694Gly)
n.6487A>G
c.1346A>G (p.Glu449Gly)
c.1007A>G (p.Glu336Gly)
c.1889A>G (p.Glu630Gly)
c.1604A>G (p.Glu535Gly)
c.1046A>G (p.Glu349Gly)
c.2177A>G (p.Glu726Gly)
 dbSNP gnomAD v4
4g.102634951T>GCA357756892MANBAc.2390A>C (p.Glu797Ala)
c.2252A>C (p.Glu751Ala)
c.*892A>C (n.*892A>C)
c.*1274A>C (n.*1274A>C)
c.1920A>C
c.*1372A>C (n.*1372A>C)
c.*1106A>C (n.*1106A>C)
c.2341A>C (n.2341A>C)
c.2081A>C (p.Glu694Ala)
n.6487A>C
c.1346A>C (p.Glu449Ala)
c.1007A>C (p.Glu336Ala)
c.1889A>C (p.Glu630Ala)
c.1604A>C (p.Glu535Ala)
c.1046A>C (p.Glu349Ala)
c.2177A>C (p.Glu726Ala)
4g.102634951T=CA1481458330MANBAc.2390A= (p.Glu797=)
c.2252A= (p.Glu751=)
c.*892A= (n.*892A=)
c.*1274A= (n.*1274A=)
c.1920A=
c.*1372A= (n.*1372A=)
c.*1106A= (n.*1106A=)
c.2341A= (n.2341A=)
c.2081A= (p.Glu694=)
n.6487A=
c.1346A= (p.Glu449=)
c.1007A= (p.Glu336=)
c.1889A= (p.Glu630=)
c.1604A= (p.Glu535=)
c.1046A= (p.Glu349=)
c.2177A= (p.Glu726=)
4g.102634952C>ACA357756894MANBAc.2389G>T (p.Glu797Ter)
c.2251G>T (p.Glu751Ter)
c.*891G>T (n.*891G>T)
c.*1273G>T (n.*1273G>T)
c.1919G>T
c.*1371G>T (n.*1371G>T)
c.*1105G>T (n.*1105G>T)
c.2340G>T (n.2340G>T)
c.2080G>T (p.Glu694Ter)
n.6486G>T
c.1345G>T (p.Glu449Ter)
c.1006G>T (p.Glu336Ter)
c.1888G>T (p.Glu630Ter)
c.1603G>T (p.Glu535Ter)
c.1045G>T (p.Glu349Ter)
c.2176G>T (p.Glu726Ter)
4g.102634952C=CA1481458331MANBAc.2389G= (p.Glu797=)
c.2251G= (p.Glu751=)
c.*891G= (n.*891G=)
c.*1273G= (n.*1273G=)
c.1919G=
c.*1371G= (n.*1371G=)
c.*1105G= (n.*1105G=)
c.2340G= (n.2340G=)
c.2080G= (p.Glu694=)
n.6486G=
c.1345G= (p.Glu449=)
c.1006G= (p.Glu336=)
c.1888G= (p.Glu630=)
c.1603G= (p.Glu535=)
c.1045G= (p.Glu349=)
c.2176G= (p.Glu726=)
4g.102634952C>GCA357756895MANBAc.2389G>C (p.Glu797Gln)
c.2251G>C (p.Glu751Gln)
c.*891G>C (n.*891G>C)
c.*1273G>C (n.*1273G>C)
c.1919G>C
c.*1371G>C (n.*1371G>C)
c.*1105G>C (n.*1105G>C)
c.2340G>C (n.2340G>C)
c.2080G>C (p.Glu694Gln)
n.6486G>C
c.1345G>C (p.Glu449Gln)
c.1006G>C (p.Glu336Gln)
c.1888G>C (p.Glu630Gln)
c.1603G>C (p.Glu535Gln)
c.1045G>C (p.Glu349Gln)
c.2176G>C (p.Glu726Gln)
4g.102634952C>TCA357756896MANBAc.2389G>A (p.Glu797Lys)
c.2251G>A (p.Glu751Lys)
c.*891G>A (n.*891G>A)
c.*1273G>A (n.*1273G>A)
c.1919G>A
c.*1371G>A (n.*1371G>A)
c.*1105G>A (n.*1105G>A)
c.2340G>A (n.2340G>A)
c.2080G>A (p.Glu694Lys)
n.6486G>A
c.1345G>A (p.Glu449Lys)
c.1006G>A (p.Glu336Lys)
c.1888G>A (p.Glu630Lys)
c.1603G>A (p.Glu535Lys)
c.1045G>A (p.Glu349Lys)
c.2176G>A (p.Glu726Lys)
 dbSNP
4g.102634953A>CCA357756897MANBAc.2388T>G (p.Tyr796Ter)
c.2250T>G (p.Tyr750Ter)
c.*890T>G (n.*890T>G)
c.*1272T>G (n.*1272T>G)
c.1918T>G
c.*1370T>G (n.*1370T>G)
c.*1104T>G (n.*1104T>G)
c.2339T>G (n.2339T>G)
c.2079T>G (p.Tyr693Ter)
n.6485T>G
c.1344T>G (p.Tyr448Ter)
c.1005T>G (p.Tyr335Ter)
c.1887T>G (p.Tyr629Ter)
c.1602T>G (p.Tyr534Ter)
c.1044T>G (p.Tyr348Ter)
c.2175T>G (p.Tyr725Ter)
4g.102634953A>GCA440807720MANBAc.2388T>C (p.Tyr796=)
c.2250T>C (p.Tyr750=)
c.*890T>C (n.*890T>C)
c.*1272T>C (n.*1272T>C)
c.1918T>C
c.*1370T>C (n.*1370T>C)
c.*1104T>C (n.*1104T>C)
c.2339T>C (n.2339T>C)
c.2079T>C (p.Tyr693=)
n.6485T>C
c.1344T>C (p.Tyr448=)
c.1005T>C (p.Tyr335=)
c.1887T>C (p.Tyr629=)
c.1602T>C (p.Tyr534=)
c.1044T>C (p.Tyr348=)
c.2175T>C (p.Tyr725=)
4g.102634953A>TCA357756898MANBAc.2388T>A (p.Tyr796Ter)
c.2250T>A (p.Tyr750Ter)
c.*890T>A (n.*890T>A)
c.*1272T>A (n.*1272T>A)
c.1918T>A
c.*1370T>A (n.*1370T>A)
c.*1104T>A (n.*1104T>A)
c.2339T>A (n.2339T>A)
c.2079T>A (p.Tyr693Ter)
n.6485T>A
c.1344T>A (p.Tyr448Ter)
c.1005T>A (p.Tyr335Ter)
c.1887T>A (p.Tyr629Ter)
c.1602T>A (p.Tyr534Ter)
c.1044T>A (p.Tyr348Ter)
c.2175T>A (p.Tyr725Ter)
 gnomAD v4
4g.102634954T>ACA357756899MANBAc.2387A>T (p.Tyr796Phe)
c.2249A>T (p.Tyr750Phe)
c.*889A>T (n.*889A>T)
c.*1271A>T (n.*1271A>T)
c.1917A>T
c.*1369A>T (n.*1369A>T)
c.*1103A>T (n.*1103A>T)
c.2338A>T (n.2338A>T)
c.2078A>T (p.Tyr693Phe)
n.6484A>T
c.1343A>T (p.Tyr448Phe)
c.1004A>T (p.Tyr335Phe)
c.1886A>T (p.Tyr629Phe)
c.1601A>T (p.Tyr534Phe)
c.1043A>T (p.Tyr348Phe)
c.2174A>T (p.Tyr725Phe)
 dbSNP
4g.102634954T>CCA357756900MANBAc.2387A>G (p.Tyr796Cys)
c.2249A>G (p.Tyr750Cys)
c.*889A>G (n.*889A>G)
c.*1271A>G (n.*1271A>G)
c.1917A>G
c.*1369A>G (n.*1369A>G)
c.*1103A>G (n.*1103A>G)
c.2338A>G (n.2338A>G)
c.2078A>G (p.Tyr693Cys)
n.6484A>G
c.1343A>G (p.Tyr448Cys)
c.1004A>G (p.Tyr335Cys)
c.1886A>G (p.Tyr629Cys)
c.1601A>G (p.Tyr534Cys)
c.1043A>G (p.Tyr348Cys)
c.2174A>G (p.Tyr725Cys)
4g.102634954T>GCA357756901MANBAc.2387A>C (p.Tyr796Ser)
c.2249A>C (p.Tyr750Ser)
c.*889A>C (n.*889A>C)
c.*1271A>C (n.*1271A>C)
c.1917A>C
c.*1369A>C (n.*1369A>C)
c.*1103A>C (n.*1103A>C)
c.2338A>C (n.2338A>C)
c.2078A>C (p.Tyr693Ser)
n.6484A>C
c.1343A>C (p.Tyr448Ser)
c.1004A>C (p.Tyr335Ser)
c.1886A>C (p.Tyr629Ser)
c.1601A>C (p.Tyr534Ser)
c.1043A>C (p.Tyr348Ser)
c.2174A>C (p.Tyr725Ser)
4g.102634955A>CCA357756902MANBAc.2386T>G (p.Tyr796Asp)
c.2248T>G (p.Tyr750Asp)
c.*888T>G (n.*888T>G)
c.*1270T>G (n.*1270T>G)
c.1916T>G
c.*1368T>G (n.*1368T>G)
c.*1102T>G (n.*1102T>G)
c.2337T>G (n.2337T>G)
c.2077T>G (p.Tyr693Asp)
n.6483T>G
c.1342T>G (p.Tyr448Asp)
c.1003T>G (p.Tyr335Asp)
c.1885T>G (p.Tyr629Asp)
c.1600T>G (p.Tyr534Asp)
c.1042T>G (p.Tyr348Asp)
c.2173T>G (p.Tyr725Asp)
4g.102634955A>GCA357756903MANBAc.2386T>C (p.Tyr796His)
c.2248T>C (p.Tyr750His)
c.*888T>C (n.*888T>C)
c.*1270T>C (n.*1270T>C)
c.1916T>C
c.*1368T>C (n.*1368T>C)
c.*1102T>C (n.*1102T>C)
c.2337T>C (n.2337T>C)
c.2077T>C (p.Tyr693His)
n.6483T>C
c.1342T>C (p.Tyr448His)
c.1003T>C (p.Tyr335His)
c.1885T>C (p.Tyr629His)
c.1600T>C (p.Tyr534His)
c.1042T>C (p.Tyr348His)
c.2173T>C (p.Tyr725His)
4g.102634955A>TCA357756904MANBAc.2386T>A (p.Tyr796Asn)
c.2248T>A (p.Tyr750Asn)
c.*888T>A (n.*888T>A)
c.*1270T>A (n.*1270T>A)
c.1916T>A
c.*1368T>A (n.*1368T>A)
c.*1102T>A (n.*1102T>A)
c.2337T>A (n.2337T>A)
c.2077T>A (p.Tyr693Asn)
n.6483T>A
c.1342T>A (p.Tyr448Asn)
c.1003T>A (p.Tyr335Asn)
c.1885T>A (p.Tyr629Asn)
c.1600T>A (p.Tyr534Asn)
c.1042T>A (p.Tyr348Asn)
c.2173T>A (p.Tyr725Asn)
4g.102634956A=CA1481458332MANBAc.2385T= (p.Leu795=)
c.2247T= (p.Leu749=)
c.*887T= (n.*887T=)
c.*1269T= (n.*1269T=)
c.1915T=
c.*1367T= (n.*1367T=)
c.*1101T= (n.*1101T=)
c.2336T= (n.2336T=)
c.2076T= (p.Leu692=)
n.6482T=
c.1341T= (p.Leu447=)
c.1002T= (p.Leu334=)
c.1884T= (p.Leu628=)
c.1599T= (p.Leu533=)
c.1041T= (p.Leu347=)
c.2172T= (p.Leu724=)
4g.102634956A>CCA440807722MANBAc.2385T>G (p.Leu795=)
c.2247T>G (p.Leu749=)
c.*887T>G (n.*887T>G)
c.*1269T>G (n.*1269T>G)
c.1915T>G
c.*1367T>G (n.*1367T>G)
c.*1101T>G (n.*1101T>G)
c.2336T>G (n.2336T>G)
c.2076T>G (p.Leu692=)
n.6482T>G
c.1341T>G (p.Leu447=)
c.1002T>G (p.Leu334=)
c.1884T>G (p.Leu628=)
c.1599T>G (p.Leu533=)
c.1041T>G (p.Leu347=)
c.2172T>G (p.Leu724=)
4g.102634956A>GCA440807723MANBAc.2385T>C (p.Leu795=)
c.2247T>C (p.Leu749=)
c.*887T>C (n.*887T>C)
c.*1269T>C (n.*1269T>C)
c.1915T>C
c.*1367T>C (n.*1367T>C)
c.*1101T>C (n.*1101T>C)
c.2336T>C (n.2336T>C)
c.2076T>C (p.Leu692=)
n.6482T>C
c.1341T>C (p.Leu447=)
c.1002T>C (p.Leu334=)
c.1884T>C (p.Leu628=)
c.1599T>C (p.Leu533=)
c.1041T>C (p.Leu347=)
c.2172T>C (p.Leu724=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.102634956A>TCA440807724MANBAc.2385T>A (p.Leu795=)
c.2247T>A (p.Leu749=)
c.*887T>A (n.*887T>A)
c.*1269T>A (n.*1269T>A)
c.1915T>A
c.*1367T>A (n.*1367T>A)
c.*1101T>A (n.*1101T>A)
c.2336T>A (n.2336T>A)
c.2076T>A (p.Leu692=)
n.6482T>A
c.1341T>A (p.Leu447=)
c.1002T>A (p.Leu334=)
c.1884T>A (p.Leu628=)
c.1599T>A (p.Leu533=)
c.1041T>A (p.Leu347=)
c.2172T>A (p.Leu724=)
4g.102634957A=CA1481458333MANBAc.2384T= (p.Leu795=)
c.2246T= (p.Leu749=)
c.*886T= (n.*886T=)
c.*1268T= (n.*1268T=)
c.1914T=
c.*1366T= (n.*1366T=)
c.*1100T= (n.*1100T=)
c.2335T= (n.2335T=)
c.2075T= (p.Leu692=)
n.6481T=
c.1340T= (p.Leu447=)
c.1001T= (p.Leu334=)
c.1883T= (p.Leu628=)
c.1598T= (p.Leu533=)
c.1040T= (p.Leu347=)
c.2171T= (p.Leu724=)
4g.102634957A>CCA357756906MANBAc.2384T>G (p.Leu795Arg)
c.2246T>G (p.Leu749Arg)
c.*886T>G (n.*886T>G)
c.*1268T>G (n.*1268T>G)
c.1914T>G
c.*1366T>G (n.*1366T>G)
c.*1100T>G (n.*1100T>G)
c.2335T>G (n.2335T>G)
c.2075T>G (p.Leu692Arg)
n.6481T>G
c.1340T>G (p.Leu447Arg)
c.1001T>G (p.Leu334Arg)
c.1883T>G (p.Leu628Arg)
c.1598T>G (p.Leu533Arg)
c.1040T>G (p.Leu347Arg)
c.2171T>G (p.Leu724Arg)
4g.102634957A>GCA357756905MANBAc.2384T>C (p.Leu795Pro)
c.2246T>C (p.Leu749Pro)
c.*886T>C (n.*886T>C)
c.*1268T>C (n.*1268T>C)
c.1914T>C
c.*1366T>C (n.*1366T>C)
c.*1100T>C (n.*1100T>C)
c.2335T>C (n.2335T>C)
c.2075T>C (p.Leu692Pro)
n.6481T>C
c.1340T>C (p.Leu447Pro)
c.1001T>C (p.Leu334Pro)
c.1883T>C (p.Leu628Pro)
c.1598T>C (p.Leu533Pro)
c.1040T>C (p.Leu347Pro)
c.2171T>C (p.Leu724Pro)
 dbSNP gnomAD v3 gnomAD v4
4g.102634957A>TCA3026663MANBAc.2384T>A (p.Leu795His)
c.2246T>A (p.Leu749His)
c.*886T>A (n.*886T>A)
c.*1268T>A (n.*1268T>A)
c.1914T>A
c.*1366T>A (n.*1366T>A)
c.*1100T>A (n.*1100T>A)
c.2335T>A (n.2335T>A)
c.2075T>A (p.Leu692His)
n.6481T>A
c.1340T>A (p.Leu447His)
c.1001T>A (p.Leu334His)
c.1883T>A (p.Leu628His)
c.1598T>A (p.Leu533His)
c.1040T>A (p.Leu347His)
c.2171T>A (p.Leu724His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.102634958G>ACA357756907MANBAc.2383C>T (p.Leu795Phe)
c.2245C>T (p.Leu749Phe)
c.*885C>T (n.*885C>T)
c.*1267C>T (n.*1267C>T)
c.1913C>T
c.*1365C>T (n.*1365C>T)
c.*1099C>T (n.*1099C>T)
c.2334C>T (n.2334C>T)
c.2074C>T (p.Leu692Phe)
n.6480C>T
c.1339C>T (p.Leu447Phe)
c.1000C>T (p.Leu334Phe)
c.1882C>T (p.Leu628Phe)
c.1597C>T (p.Leu533Phe)
c.1039C>T (p.Leu347Phe)
c.2170C>T (p.Leu724Phe)
 gnomAD v4
4g.102634958G>CCA357756908MANBAc.2383C>G (p.Leu795Val)
c.2245C>G (p.Leu749Val)
c.*885C>G (n.*885C>G)
c.*1267C>G (n.*1267C>G)
c.1913C>G
c.*1365C>G (n.*1365C>G)
c.*1099C>G (n.*1099C>G)
c.2334C>G (n.2334C>G)
c.2074C>G (p.Leu692Val)
n.6480C>G
c.1339C>G (p.Leu447Val)
c.1000C>G (p.Leu334Val)
c.1882C>G (p.Leu628Val)
c.1597C>G (p.Leu533Val)
c.1039C>G (p.Leu347Val)
c.2170C>G (p.Leu724Val)
4g.102634958G=CA1481458334MANBAc.2383C= (p.Leu795=)
c.2245C= (p.Leu749=)
c.*885C= (n.*885C=)
c.*1267C= (n.*1267C=)
c.1913C=
c.*1365C= (n.*1365C=)
c.*1099C= (n.*1099C=)
c.2334C= (n.2334C=)
c.2074C= (p.Leu692=)
n.6480C=
c.1339C= (p.Leu447=)
c.1000C= (p.Leu334=)
c.1882C= (p.Leu628=)
c.1597C= (p.Leu533=)
c.1039C= (p.Leu347=)
c.2170C= (p.Leu724=)
4g.102634958G>TCA3026664MANBAc.2383C>A (p.Leu795Ile)
c.2245C>A (p.Leu749Ile)
c.*885C>A (n.*885C>A)
c.*1267C>A (n.*1267C>A)
c.1913C>A
c.*1365C>A (n.*1365C>A)
c.*1099C>A (n.*1099C>A)
c.2334C>A (n.2334C>A)
c.2074C>A (p.Leu692Ile)
n.6480C>A
c.1339C>A (p.Leu447Ile)
c.1000C>A (p.Leu334Ile)
c.1882C>A (p.Leu628Ile)
c.1597C>A (p.Leu533Ile)
c.1039C>A (p.Leu347Ile)
c.2170C>A (p.Leu724Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.102634959G>ACA440807725MANBAc.2382C>T (p.Cys794=)
c.2244C>T (p.Cys748=)
c.*884C>T (n.*884C>T)
c.*1266C>T (n.*1266C>T)
c.1912C>T
c.*1364C>T (n.*1364C>T)
c.*1098C>T (n.*1098C>T)
c.2333C>T (n.2333C>T)
c.2073C>T (p.Cys691=)
n.6479C>T
c.1338C>T (p.Cys446=)
c.999C>T (p.Cys333=)
c.1881C>T (p.Cys627=)
c.1596C>T (p.Cys532=)
c.1038C>T (p.Cys346=)
c.2169C>T (p.Cys723=)
 ClinVar dbSNP gnomAD v4
4g.102634959G>CCA357756909MANBAc.2382C>G (p.Cys794Trp)
c.2244C>G (p.Cys748Trp)
c.*884C>G (n.*884C>G)
c.*1266C>G (n.*1266C>G)
c.1912C>G
c.*1364C>G (n.*1364C>G)
c.*1098C>G (n.*1098C>G)
c.2333C>G (n.2333C>G)
c.2073C>G (p.Cys691Trp)
n.6479C>G
c.1338C>G (p.Cys446Trp)
c.999C>G (p.Cys333Trp)
c.1881C>G (p.Cys627Trp)
c.1596C>G (p.Cys532Trp)
c.1038C>G (p.Cys346Trp)
c.2169C>G (p.Cys723Trp)
4g.102634959G=CA1481458335MANBAc.2382C= (p.Cys794=)
c.2244C= (p.Cys748=)
c.*884C= (n.*884C=)
c.*1266C= (n.*1266C=)
c.1912C=
c.*1364C= (n.*1364C=)
c.*1098C= (n.*1098C=)
c.2333C= (n.2333C=)
c.2073C= (p.Cys691=)
n.6479C=
c.1338C= (p.Cys446=)
c.999C= (p.Cys333=)
c.1881C= (p.Cys627=)
c.1596C= (p.Cys532=)
c.1038C= (p.Cys346=)
c.2169C= (p.Cys723=)
4g.102634959G>TCA357756910MANBAc.2382C>A (p.Cys794Ter)
c.2244C>A (p.Cys748Ter)
c.*884C>A (n.*884C>A)
c.*1266C>A (n.*1266C>A)
c.1912C>A
c.*1364C>A (n.*1364C>A)
c.*1098C>A (n.*1098C>A)
c.2333C>A (n.2333C>A)
c.2073C>A (p.Cys691Ter)
n.6479C>A
c.1338C>A (p.Cys446Ter)
c.999C>A (p.Cys333Ter)
c.1881C>A (p.Cys627Ter)
c.1596C>A (p.Cys532Ter)
c.1038C>A (p.Cys346Ter)
c.2169C>A (p.Cys723Ter)
 ClinVar
4g.102634960C>ACA357756911MANBAc.2381G>T (p.Cys794Phe)
c.2243G>T (p.Cys748Phe)
c.*883G>T (n.*883G>T)
c.*1265G>T (n.*1265G>T)
c.1911G>T
c.*1363G>T (n.*1363G>T)
c.*1097G>T (n.*1097G>T)
c.2332G>T (n.2332G>T)
c.2072G>T (p.Cys691Phe)
n.6478G>T
c.1337G>T (p.Cys446Phe)
c.998G>T (p.Cys333Phe)
c.1880G>T (p.Cys627Phe)
c.1595G>T (p.Cys532Phe)
c.1037G>T (p.Cys346Phe)
c.2168G>T (p.Cys723Phe)
4g.102634960C>GCA357756912MANBAc.2381G>C (p.Cys794Ser)
c.2243G>C (p.Cys748Ser)
c.*883G>C (n.*883G>C)
c.*1265G>C (n.*1265G>C)
c.1911G>C
c.*1363G>C (n.*1363G>C)
c.*1097G>C (n.*1097G>C)
c.2332G>C (n.2332G>C)
c.2072G>C (p.Cys691Ser)
n.6478G>C
c.1337G>C (p.Cys446Ser)
c.998G>C (p.Cys333Ser)
c.1880G>C (p.Cys627Ser)
c.1595G>C (p.Cys532Ser)
c.1037G>C (p.Cys346Ser)
c.2168G>C (p.Cys723Ser)
4g.102634960C>TCA357756913MANBAc.2381G>A (p.Cys794Tyr)
c.2243G>A (p.Cys748Tyr)
c.*883G>A (n.*883G>A)
c.*1265G>A (n.*1265G>A)
c.1911G>A
c.*1363G>A (n.*1363G>A)
c.*1097G>A (n.*1097G>A)
c.2332G>A (n.2332G>A)
c.2072G>A (p.Cys691Tyr)
n.6478G>A
c.1337G>A (p.Cys446Tyr)
c.998G>A (p.Cys333Tyr)
c.1880G>A (p.Cys627Tyr)
c.1595G>A (p.Cys532Tyr)
c.1037G>A (p.Cys346Tyr)
c.2168G>A (p.Cys723Tyr)
4g.102634961A>CCA357756914MANBAc.2380T>G (p.Cys794Gly)
c.2242T>G (p.Cys748Gly)
c.*882T>G (n.*882T>G)
c.*1264T>G (n.*1264T>G)
c.1910T>G
c.*1362T>G (n.*1362T>G)
c.*1096T>G (n.*1096T>G)
c.2331T>G (n.2331T>G)
c.2071T>G (p.Cys691Gly)
n.6477T>G
c.1336T>G (p.Cys446Gly)
c.997T>G (p.Cys333Gly)
c.1879T>G (p.Cys627Gly)
c.1594T>G (p.Cys532Gly)
c.1036T>G (p.Cys346Gly)
c.2167T>G (p.Cys723Gly)
4g.102634961A>GCA357756915MANBAc.2380T>C (p.Cys794Arg)
c.2242T>C (p.Cys748Arg)
c.*882T>C (n.*882T>C)
c.*1264T>C (n.*1264T>C)
c.1910T>C
c.*1362T>C (n.*1362T>C)
c.*1096T>C (n.*1096T>C)
c.2331T>C (n.2331T>C)
c.2071T>C (p.Cys691Arg)
n.6477T>C
c.1336T>C (p.Cys446Arg)
c.997T>C (p.Cys333Arg)
c.1879T>C (p.Cys627Arg)
c.1594T>C (p.Cys532Arg)
c.1036T>C (p.Cys346Arg)
c.2167T>C (p.Cys723Arg)
4g.102634961A>TCA357756916MANBAc.2380T>A (p.Cys794Ser)
c.2242T>A (p.Cys748Ser)
c.*882T>A (n.*882T>A)
c.*1264T>A (n.*1264T>A)
c.1910T>A
c.*1362T>A (n.*1362T>A)
c.*1096T>A (n.*1096T>A)
c.2331T>A (n.2331T>A)
c.2071T>A (p.Cys691Ser)
n.6477T>A
c.1336T>A (p.Cys446Ser)
c.997T>A (p.Cys333Ser)
c.1879T>A (p.Cys627Ser)
c.1594T>A (p.Cys532Ser)
c.1036T>A (p.Cys346Ser)
c.2167T>A (p.Cys723Ser)
4g.102634962G>ACA440807729MANBAc.2379C>T (p.Val793=)
c.2241C>T (p.Val747=)
c.*881C>T (n.*881C>T)
c.*1263C>T (n.*1263C>T)
c.1909C>T
c.*1361C>T (n.*1361C>T)
c.*1095C>T (n.*1095C>T)
c.2330C>T (n.2330C>T)
c.2070C>T (p.Val690=)
n.6476C>T
c.1335C>T (p.Val445=)
c.996C>T (p.Val332=)
c.1878C>T (p.Val626=)
c.1593C>T (p.Val531=)
c.1035C>T (p.Val345=)
c.2166C>T (p.Val722=)
 ClinVar
4g.102634962G>CCA440807728MANBAc.2379C>G (p.Val793=)
c.2241C>G (p.Val747=)
c.*881C>G (n.*881C>G)
c.*1263C>G (n.*1263C>G)
c.1909C>G
c.*1361C>G (n.*1361C>G)
c.*1095C>G (n.*1095C>G)
c.2330C>G (n.2330C>G)
c.2070C>G (p.Val690=)
n.6476C>G
c.1335C>G (p.Val445=)
c.996C>G (p.Val332=)
c.1878C>G (p.Val626=)
c.1593C>G (p.Val531=)
c.1035C>G (p.Val345=)
c.2166C>G (p.Val722=)
4g.102634962G>TCA440807727MANBAc.2379C>A (p.Val793=)
c.2241C>A (p.Val747=)
c.*881C>A (n.*881C>A)
c.*1263C>A (n.*1263C>A)
c.1909C>A
c.*1361C>A (n.*1361C>A)
c.*1095C>A (n.*1095C>A)
c.2330C>A (n.2330C>A)
c.2070C>A (p.Val690=)
n.6476C>A
c.1335C>A (p.Val445=)
c.996C>A (p.Val332=)
c.1878C>A (p.Val626=)
c.1593C>A (p.Val531=)
c.1035C>A (p.Val345=)
c.2166C>A (p.Val722=)
4g.102634963A=CA1481458336MANBAc.2378T= (p.Val793=)
c.2240T= (p.Val747=)
c.*880T= (n.*880T=)
c.*1262T= (n.*1262T=)
c.1908T=
c.*1360T= (n.*1360T=)
c.*1094T= (n.*1094T=)
c.2329T= (n.2329T=)
c.2069T= (p.Val690=)
n.6475T=
c.1334T= (p.Val445=)
c.995T= (p.Val332=)
c.1877T= (p.Val626=)
c.1592T= (p.Val531=)
c.1034T= (p.Val345=)
c.2165T= (p.Val722=)
4g.102634963A>CCA357756917MANBAc.2378T>G (p.Val793Gly)
c.2240T>G (p.Val747Gly)
c.*880T>G (n.*880T>G)
c.*1262T>G (n.*1262T>G)
c.1908T>G
c.*1360T>G (n.*1360T>G)
c.*1094T>G (n.*1094T>G)
c.2329T>G (n.2329T>G)
c.2069T>G (p.Val690Gly)
n.6475T>G
c.1334T>G (p.Val445Gly)
c.995T>G (p.Val332Gly)
c.1877T>G (p.Val626Gly)
c.1592T>G (p.Val531Gly)
c.1034T>G (p.Val345Gly)
c.2165T>G (p.Val722Gly)
4g.102634963A>GCA357756918MANBAc.2378T>C (p.Val793Ala)
c.2240T>C (p.Val747Ala)
c.*880T>C (n.*880T>C)
c.*1262T>C (n.*1262T>C)
c.1908T>C
c.*1360T>C (n.*1360T>C)
c.*1094T>C (n.*1094T>C)
c.2329T>C (n.2329T>C)
c.2069T>C (p.Val690Ala)
n.6475T>C
c.1334T>C (p.Val445Ala)
c.995T>C (p.Val332Ala)
c.1877T>C (p.Val626Ala)
c.1592T>C (p.Val531Ala)
c.1034T>C (p.Val345Ala)
c.2165T>C (p.Val722Ala)
4g.102634963A>TCA3026665MANBAc.2378T>A (p.Val793Asp)
c.2240T>A (p.Val747Asp)
c.*880T>A (n.*880T>A)
c.*1262T>A (n.*1262T>A)
c.1908T>A
c.*1360T>A (n.*1360T>A)
c.*1094T>A (n.*1094T>A)
c.2329T>A (n.2329T>A)
c.2069T>A (p.Val690Asp)
n.6475T>A
c.1334T>A (p.Val445Asp)
c.995T>A (p.Val332Asp)
c.1877T>A (p.Val626Asp)
c.1592T>A (p.Val531Asp)
c.1034T>A (p.Val345Asp)
c.2165T>A (p.Val722Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.102634964C>ACA357756919MANBAc.2377G>T (p.Val793Phe)
c.2239G>T (p.Val747Phe)
c.*879G>T (n.*879G>T)
c.*1261G>T (n.*1261G>T)
c.1907G>T
c.*1359G>T (n.*1359G>T)
c.*1093G>T (n.*1093G>T)
c.2328G>T (n.2328G>T)
c.2068G>T (p.Val690Phe)
n.6474G>T
c.1333G>T (p.Val445Phe)
c.994G>T (p.Val332Phe)
c.1876G>T (p.Val626Phe)
c.1591G>T (p.Val531Phe)
c.1033G>T (p.Val345Phe)
c.2164G>T (p.Val722Phe)
4g.102634964C>GCA357756920MANBAc.2377G>C (p.Val793Leu)
c.2239G>C (p.Val747Leu)
c.*879G>C (n.*879G>C)
c.*1261G>C (n.*1261G>C)
c.1907G>C
c.*1359G>C (n.*1359G>C)
c.*1093G>C (n.*1093G>C)
c.2328G>C (n.2328G>C)
c.2068G>C (p.Val690Leu)
n.6474G>C
c.1333G>C (p.Val445Leu)
c.994G>C (p.Val332Leu)
c.1876G>C (p.Val626Leu)
c.1591G>C (p.Val531Leu)
c.1033G>C (p.Val345Leu)
c.2164G>C (p.Val722Leu)
4g.102634964C>TCA357756921MANBAc.2377G>A (p.Val793Ile)
c.2239G>A (p.Val747Ile)
c.*879G>A (n.*879G>A)
c.*1261G>A (n.*1261G>A)
c.1907G>A
c.*1359G>A (n.*1359G>A)
c.*1093G>A (n.*1093G>A)
c.2328G>A (n.2328G>A)
c.2068G>A (p.Val690Ile)
n.6474G>A
c.1333G>A (p.Val445Ile)
c.994G>A (p.Val332Ile)
c.1876G>A (p.Val626Ile)
c.1591G>A (p.Val531Ile)
c.1033G>A (p.Val345Ile)
c.2164G>A (p.Val722Ile)
4g.102634965A>CCA440807730MANBAc.2376T>G (p.Ala792=)
c.2238T>G (p.Ala746=)
c.*878T>G (n.*878T>G)
c.*1260T>G (n.*1260T>G)
c.1906T>G
c.*1358T>G (n.*1358T>G)
c.*1092T>G (n.*1092T>G)
c.2327T>G (n.2327T>G)
c.2067T>G (p.Ala689=)
n.6473T>G
c.1332T>G (p.Ala444=)
c.993T>G (p.Ala331=)
c.1875T>G (p.Ala625=)
c.1590T>G (p.Ala530=)
c.1032T>G (p.Ala344=)
c.2163T>G (p.Ala721=)
4g.102634965A>GCA440807731MANBAc.2376T>C (p.Ala792=)
c.2238T>C (p.Ala746=)
c.*878T>C (n.*878T>C)
c.*1260T>C (n.*1260T>C)
c.1906T>C
c.*1358T>C (n.*1358T>C)
c.*1092T>C (n.*1092T>C)
c.2327T>C (n.2327T>C)
c.2067T>C (p.Ala689=)
n.6473T>C
c.1332T>C (p.Ala444=)
c.993T>C (p.Ala331=)
c.1875T>C (p.Ala625=)
c.1590T>C (p.Ala530=)
c.1032T>C (p.Ala344=)
c.2163T>C (p.Ala721=)
 gnomAD v4
4g.102634965A>TCA440807732MANBAc.2376T>A (p.Ala792=)
c.2238T>A (p.Ala746=)
c.*878T>A (n.*878T>A)
c.*1260T>A (n.*1260T>A)
c.1906T>A
c.*1358T>A (n.*1358T>A)
c.*1092T>A (n.*1092T>A)
c.2327T>A (n.2327T>A)
c.2067T>A (p.Ala689=)
n.6473T>A
c.1332T>A (p.Ala444=)
c.993T>A (p.Ala331=)
c.1875T>A (p.Ala625=)
c.1590T>A (p.Ala530=)
c.1032T>A (p.Ala344=)
c.2163T>A (p.Ala721=)
4g.102634966G>ACA357756924MANBAc.2375C>T (p.Ala792Val)
c.2237C>T (p.Ala746Val)
c.*877C>T (n.*877C>T)
c.*1259C>T (n.*1259C>T)
c.1905C>T
c.*1357C>T (n.*1357C>T)
c.*1091C>T (n.*1091C>T)
c.2326C>T (n.2326C>T)
c.2066C>T (p.Ala689Val)
n.6472C>T
c.1331C>T (p.Ala444Val)
c.992C>T (p.Ala331Val)
c.1874C>T (p.Ala625Val)
c.1589C>T (p.Ala530Val)
c.1031C>T (p.Ala344Val)
c.2162C>T (p.Ala721Val)
4g.102634966G>CCA357756922MANBAc.2375C>G (p.Ala792Gly)
c.2237C>G (p.Ala746Gly)
c.*877C>G (n.*877C>G)
c.*1259C>G (n.*1259C>G)
c.1905C>G
c.*1357C>G (n.*1357C>G)
c.*1091C>G (n.*1091C>G)
c.2326C>G (n.2326C>G)
c.2066C>G (p.Ala689Gly)
n.6472C>G
c.1331C>G (p.Ala444Gly)
c.992C>G (p.Ala331Gly)
c.1874C>G (p.Ala625Gly)
c.1589C>G (p.Ala530Gly)
c.1031C>G (p.Ala344Gly)
c.2162C>G (p.Ala721Gly)
4g.102634966G>TCA357756923MANBAc.2375C>A (p.Ala792Asp)
c.2237C>A (p.Ala746Asp)
c.*877C>A (n.*877C>A)
c.*1259C>A (n.*1259C>A)
c.1905C>A
c.*1357C>A (n.*1357C>A)
c.*1091C>A (n.*1091C>A)
c.2326C>A (n.2326C>A)
c.2066C>A (p.Ala689Asp)
n.6472C>A
c.1331C>A (p.Ala444Asp)
c.992C>A (p.Ala331Asp)
c.1874C>A (p.Ala625Asp)
c.1589C>A (p.Ala530Asp)
c.1031C>A (p.Ala344Asp)
c.2162C>A (p.Ala721Asp)
4g.102634967C>ACA357756925MANBAc.2374G>T (p.Ala792Ser)
c.2236G>T (p.Ala746Ser)
c.*876G>T (n.*876G>T)
c.*1258G>T (n.*1258G>T)
c.1904G>T
c.*1356G>T (n.*1356G>T)
c.*1090G>T (n.*1090G>T)
c.2325G>T (n.2325G>T)
c.2065G>T (p.Ala689Ser)
n.6471G>T
c.1330G>T (p.Ala444Ser)
c.991G>T (p.Ala331Ser)
c.1873G>T (p.Ala625Ser)
c.1588G>T (p.Ala530Ser)
c.1030G>T (p.Ala344Ser)
c.2161G>T (p.Ala721Ser)
 dbSNP gnomAD v4
4g.102634967C=CA1481458337MANBAc.2374G= (p.Ala792=)
c.2236G= (p.Ala746=)
c.*876G= (n.*876G=)
c.*1258G= (n.*1258G=)
c.1904G=
c.*1356G= (n.*1356G=)
c.*1090G= (n.*1090G=)
c.2325G= (n.2325G=)
c.2065G= (p.Ala689=)
n.6471G=
c.1330G= (p.Ala444=)
c.991G= (p.Ala331=)
c.1873G= (p.Ala625=)
c.1588G= (p.Ala530=)
c.1030G= (p.Ala344=)
c.2161G= (p.Ala721=)
4g.102634967C>GCA357756926MANBAc.2374G>C (p.Ala792Pro)
c.2236G>C (p.Ala746Pro)
c.*876G>C (n.*876G>C)
c.*1258G>C (n.*1258G>C)
c.1904G>C
c.*1356G>C (n.*1356G>C)
c.*1090G>C (n.*1090G>C)
c.2325G>C (n.2325G>C)
c.2065G>C (p.Ala689Pro)
n.6471G>C
c.1330G>C (p.Ala444Pro)
c.991G>C (p.Ala331Pro)
c.1873G>C (p.Ala625Pro)
c.1588G>C (p.Ala530Pro)
c.1030G>C (p.Ala344Pro)
c.2161G>C (p.Ala721Pro)
4g.102634967C>TCA357756927MANBAc.2374G>A (p.Ala792Thr)
c.2236G>A (p.Ala746Thr)
c.*876G>A (n.*876G>A)
c.*1258G>A (n.*1258G>A)
c.1904G>A
c.*1356G>A (n.*1356G>A)
c.*1090G>A (n.*1090G>A)
c.2325G>A (n.2325G>A)
c.2065G>A (p.Ala689Thr)
n.6471G>A
c.1330G>A (p.Ala444Thr)
c.991G>A (p.Ala331Thr)
c.1873G>A (p.Ala625Thr)
c.1588G>A (p.Ala530Thr)
c.1030G>A (p.Ala344Thr)
c.2161G>A (p.Ala721Thr)
4g.102634968C>ACA357756928MANBAc.2373G>T (p.Glu791Asp)
c.2235G>T (p.Glu745Asp)
c.*875G>T (n.*875G>T)
c.*1257G>T (n.*1257G>T)
c.1903G>T
c.*1355G>T (n.*1355G>T)
c.*1089G>T (n.*1089G>T)
c.2324G>T (n.2324G>T)
c.2064G>T (p.Glu688Asp)
n.6470G>T
c.1329G>T (p.Glu443Asp)
c.990G>T (p.Glu330Asp)
c.1872G>T (p.Glu624Asp)
c.1587G>T (p.Glu529Asp)
c.1029G>T (p.Glu343Asp)
c.2160G>T (p.Glu720Asp)
4g.102634968C=CA1481458338MANBAc.2373G= (p.Glu791=)
c.2235G= (p.Glu745=)
c.*875G= (n.*875G=)
c.*1257G= (n.*1257G=)
c.1903G=
c.*1355G= (n.*1355G=)
c.*1089G= (n.*1089G=)
c.2324G= (n.2324G=)
c.2064G= (p.Glu688=)
n.6470G=
c.1329G= (p.Glu443=)
c.990G= (p.Glu330=)
c.1872G= (p.Glu624=)
c.1587G= (p.Glu529=)
c.1029G= (p.Glu343=)
c.2160G= (p.Glu720=)
4g.102634968C>GCA357756929MANBAc.2373G>C (p.Glu791Asp)
c.2235G>C (p.Glu745Asp)
c.*875G>C (n.*875G>C)
c.*1257G>C (n.*1257G>C)
c.1903G>C
c.*1355G>C (n.*1355G>C)
c.*1089G>C (n.*1089G>C)
c.2324G>C (n.2324G>C)
c.2064G>C (p.Glu688Asp)
n.6470G>C
c.1329G>C (p.Glu443Asp)
c.990G>C (p.Glu330Asp)
c.1872G>C (p.Glu624Asp)
c.1587G>C (p.Glu529Asp)
c.1029G>C (p.Glu343Asp)
c.2160G>C (p.Glu720Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.102634968C>TCA440807735MANBAc.2373G>A (p.Glu791=)
c.2235G>A (p.Glu745=)
c.*875G>A (n.*875G>A)
c.*1257G>A (n.*1257G>A)
c.1903G>A
c.*1355G>A (n.*1355G>A)
c.*1089G>A (n.*1089G>A)
c.2324G>A (n.2324G>A)
c.2064G>A (p.Glu688=)
n.6470G>A
c.1329G>A (p.Glu443=)
c.990G>A (p.Glu330=)
c.1872G>A (p.Glu624=)
c.1587G>A (p.Glu529=)
c.1029G>A (p.Glu343=)
c.2160G>A (p.Glu720=)
4g.102634969T>ACA357756930MANBAc.2372A>T (p.Glu791Val)
c.2234A>T (p.Glu745Val)
c.*874A>T (n.*874A>T)
c.*1256A>T (n.*1256A>T)
c.1902A>T
c.*1354A>T (n.*1354A>T)
c.*1088A>T (n.*1088A>T)
c.2323A>T (n.2323A>T)
c.2063A>T (p.Glu688Val)
n.6469A>T
c.1328A>T (p.Glu443Val)
c.989A>T (p.Glu330Val)
c.1871A>T (p.Glu624Val)
c.1586A>T (p.Glu529Val)
c.1028A>T (p.Glu343Val)
c.2159A>T (p.Glu720Val)
4g.102634969T>CCA357756931MANBAc.2372A>G (p.Glu791Gly)
c.2234A>G (p.Glu745Gly)
c.*874A>G (n.*874A>G)
c.*1256A>G (n.*1256A>G)
c.1902A>G
c.*1354A>G (n.*1354A>G)
c.*1088A>G (n.*1088A>G)
c.2323A>G (n.2323A>G)
c.2063A>G (p.Glu688Gly)
n.6469A>G
c.1328A>G (p.Glu443Gly)
c.989A>G (p.Glu330Gly)
c.1871A>G (p.Glu624Gly)
c.1586A>G (p.Glu529Gly)
c.1028A>G (p.Glu343Gly)
c.2159A>G (p.Glu720Gly)
4g.102634969T>GCA357756932MANBAc.2372A>C (p.Glu791Ala)
c.2234A>C (p.Glu745Ala)
c.*874A>C (n.*874A>C)
c.*1256A>C (n.*1256A>C)
c.1902A>C
c.*1354A>C (n.*1354A>C)
c.*1088A>C (n.*1088A>C)
c.2323A>C (n.2323A>C)
c.2063A>C (p.Glu688Ala)
n.6469A>C
c.1328A>C (p.Glu443Ala)
c.989A>C (p.Glu330Ala)
c.1871A>C (p.Glu624Ala)
c.1586A>C (p.Glu529Ala)
c.1028A>C (p.Glu343Ala)
c.2159A>C (p.Glu720Ala)
4g.102634970C>ACA357756933MANBAc.2371G>T (p.Glu791Ter)
c.2233G>T (p.Glu745Ter)
c.*873G>T (n.*873G>T)
c.*1255G>T (n.*1255G>T)
c.1901G>T
c.*1353G>T (n.*1353G>T)
c.*1087G>T (n.*1087G>T)
c.2322G>T (n.2322G>T)
c.2062G>T (p.Glu688Ter)
n.6468G>T
c.1327G>T (p.Glu443Ter)
c.988G>T (p.Glu330Ter)
c.1870G>T (p.Glu624Ter)
c.1585G>T (p.Glu529Ter)
c.1027G>T (p.Glu343Ter)
c.2158G>T (p.Glu720Ter)
4g.102634970C>GCA357756934MANBAc.2371G>C (p.Glu791Gln)
c.2233G>C (p.Glu745Gln)
c.*873G>C (n.*873G>C)
c.*1255G>C (n.*1255G>C)
c.1901G>C
c.*1353G>C (n.*1353G>C)
c.*1087G>C (n.*1087G>C)
c.2322G>C (n.2322G>C)
c.2062G>C (p.Glu688Gln)
n.6468G>C
c.1327G>C (p.Glu443Gln)
c.988G>C (p.Glu330Gln)
c.1870G>C (p.Glu624Gln)
c.1585G>C (p.Glu529Gln)
c.1027G>C (p.Glu343Gln)
c.2158G>C (p.Glu720Gln)
4g.102634970C>TCA357756935MANBAc.2371G>A (p.Glu791Lys)
c.2233G>A (p.Glu745Lys)
c.*873G>A (n.*873G>A)
c.*1255G>A (n.*1255G>A)
c.1901G>A
c.*1353G>A (n.*1353G>A)
c.*1087G>A (n.*1087G>A)
c.2322G>A (n.2322G>A)
c.2062G>A (p.Glu688Lys)
n.6468G>A
c.1327G>A (p.Glu443Lys)
c.988G>A (p.Glu330Lys)
c.1870G>A (p.Glu624Lys)
c.1585G>A (p.Glu529Lys)
c.1027G>A (p.Glu343Lys)
c.2158G>A (p.Glu720Lys)
4g.102634975_102634977delCA2671583418MANBAc.2369_2371del (p.Gly790del)
c.2231_2233del (p.Gly744del)
c.*871_*873del (n.*871_*873del)
c.*1253_*1255del (n.*1253_*1255del)
c.1899_1901del
c.*1351_*1353del (n.*1351_*1353del)
c.*1085_*1087del (n.*1085_*1087del)
c.2320_2322del (n.2320_2322del)
c.2060_2062del (p.Gly687del)
n.6466_6468del
c.1325_1327del (p.Gly442del)
c.986_988del (p.Gly329del)
c.1868_1870del (p.Gly623del)
c.1583_1585del (p.Gly528del)
c.1025_1027del (p.Gly342del)
c.2156_2158del (p.Gly719del)
 gnomAD v4
4g.102634971T>ACA440807736MANBAc.2370A>T (p.Gly790=)
c.2232A>T (p.Gly744=)
c.*872A>T (n.*872A>T)
c.*1254A>T (n.*1254A>T)
c.1900A>T
c.*1352A>T (n.*1352A>T)
c.*1086A>T (n.*1086A>T)
c.2321A>T (n.2321A>T)
c.2061A>T (p.Gly687=)
n.6467A>T
c.1326A>T (p.Gly442=)
c.987A>T (p.Gly329=)
c.1869A>T (p.Gly623=)
c.1584A>T (p.Gly528=)
c.1026A>T (p.Gly342=)
c.2157A>T (p.Gly719=)
4g.102634971T>CCA440807737MANBAc.2370A>G (p.Gly790=)
c.2232A>G (p.Gly744=)
c.*872A>G (n.*872A>G)
c.*1254A>G (n.*1254A>G)
c.1900A>G
c.*1352A>G (n.*1352A>G)
c.*1086A>G (n.*1086A>G)
c.2321A>G (n.2321A>G)
c.2061A>G (p.Gly687=)
n.6467A>G
c.1326A>G (p.Gly442=)
c.987A>G (p.Gly329=)
c.1869A>G (p.Gly623=)
c.1584A>G (p.Gly528=)
c.1026A>G (p.Gly342=)
c.2157A>G (p.Gly719=)
4g.102634971T>GCA440807739MANBAc.2370A>C (p.Gly790=)
c.2232A>C (p.Gly744=)
c.*872A>C (n.*872A>C)
c.*1254A>C (n.*1254A>C)
c.1900A>C
c.*1352A>C (n.*1352A>C)
c.*1086A>C (n.*1086A>C)
c.2321A>C (n.2321A>C)
c.2061A>C (p.Gly687=)
n.6467A>C
c.1326A>C (p.Gly442=)
c.987A>C (p.Gly329=)
c.1869A>C (p.Gly623=)
c.1584A>C (p.Gly528=)
c.1026A>C (p.Gly342=)
c.2157A>C (p.Gly719=)
 ClinVar
4g.102634972C>ACA357756938MANBAc.2369G>T (p.Gly790Val)
c.2231G>T (p.Gly744Val)
c.*871G>T (n.*871G>T)
c.*1253G>T (n.*1253G>T)
c.1899G>T
c.*1351G>T (n.*1351G>T)
c.*1085G>T (n.*1085G>T)
c.2320G>T (n.2320G>T)
c.2060G>T (p.Gly687Val)
n.6466G>T
c.1325G>T (p.Gly442Val)
c.986G>T (p.Gly329Val)
c.1868G>T (p.Gly623Val)
c.1583G>T (p.Gly528Val)
c.1025G>T (p.Gly342Val)
c.2156G>T (p.Gly719Val)
4g.102634972C>GCA357756937MANBAc.2369G>C (p.Gly790Ala)
c.2231G>C (p.Gly744Ala)
c.*871G>C (n.*871G>C)
c.*1253G>C (n.*1253G>C)
c.1899G>C
c.*1351G>C (n.*1351G>C)
c.*1085G>C (n.*1085G>C)
c.2320G>C (n.2320G>C)
c.2060G>C (p.Gly687Ala)
n.6466G>C
c.1325G>C (p.Gly442Ala)
c.986G>C (p.Gly329Ala)
c.1868G>C (p.Gly623Ala)
c.1583G>C (p.Gly528Ala)
c.1025G>C (p.Gly342Ala)
c.2156G>C (p.Gly719Ala)
4g.102634972C>TCA357756936MANBAc.2369G>A (p.Gly790Glu)
c.2231G>A (p.Gly744Glu)
c.*871G>A (n.*871G>A)
c.*1253G>A (n.*1253G>A)
c.1899G>A
c.*1351G>A (n.*1351G>A)
c.*1085G>A (n.*1085G>A)
c.2320G>A (n.2320G>A)
c.2060G>A (p.Gly687Glu)
n.6466G>A
c.1325G>A (p.Gly442Glu)
c.986G>A (p.Gly329Glu)
c.1868G>A (p.Gly623Glu)
c.1583G>A (p.Gly528Glu)
c.1025G>A (p.Gly342Glu)
c.2156G>A (p.Gly719Glu)
4g.102634973C>ACA357756939MANBAc.2368G>T (p.Gly790Ter)
c.2230G>T (p.Gly744Ter)
c.*870G>T (n.*870G>T)
c.*1252G>T (n.*1252G>T)
c.1898G>T
c.*1350G>T (n.*1350G>T)
c.*1084G>T (n.*1084G>T)
c.2319G>T (n.2319G>T)
c.2059G>T (p.Gly687Ter)
n.6465G>T
c.1324G>T (p.Gly442Ter)
c.985G>T (p.Gly329Ter)
c.1867G>T (p.Gly623Ter)
c.1582G>T (p.Gly528Ter)
c.1024G>T (p.Gly342Ter)
c.2155G>T (p.Gly719Ter)
4g.102634973C>GCA357756940MANBAc.2368G>C (p.Gly790Arg)
c.2230G>C (p.Gly744Arg)
c.*870G>C (n.*870G>C)
c.*1252G>C (n.*1252G>C)
c.1898G>C
c.*1350G>C (n.*1350G>C)
c.*1084G>C (n.*1084G>C)
c.2319G>C (n.2319G>C)
c.2059G>C (p.Gly687Arg)
n.6465G>C
c.1324G>C (p.Gly442Arg)
c.985G>C (p.Gly329Arg)
c.1867G>C (p.Gly623Arg)
c.1582G>C (p.Gly528Arg)
c.1024G>C (p.Gly342Arg)
c.2155G>C (p.Gly719Arg)
 ClinVar
4g.102634973C>TCA357756941MANBAc.2368G>A (p.Gly790Arg)
c.2230G>A (p.Gly744Arg)
c.*870G>A (n.*870G>A)
c.*1252G>A (n.*1252G>A)
c.1898G>A
c.*1350G>A (n.*1350G>A)
c.*1084G>A (n.*1084G>A)
c.2319G>A (n.2319G>A)
c.2059G>A (p.Gly687Arg)
n.6465G>A
c.1324G>A (p.Gly442Arg)
c.985G>A (p.Gly329Arg)
c.1867G>A (p.Gly623Arg)
c.1582G>A (p.Gly528Arg)
c.1024G>A (p.Gly342Arg)
c.2155G>A (p.Gly719Arg)
4g.102634974T>ACA3026666MANBAc.2367A>T (p.Gly789=)
c.2229A>T (p.Gly743=)
c.*869A>T (n.*869A>T)
c.*1251A>T (n.*1251A>T)
c.1897A>T
c.*1349A>T (n.*1349A>T)
c.*1083A>T (n.*1083A>T)
c.2318A>T (n.2318A>T)
c.2058A>T (p.Gly686=)
n.6464A>T
c.1323A>T (p.Gly441=)
c.984A>T (p.Gly328=)
c.1866A>T (p.Gly622=)
c.1581A>T (p.Gly527=)
c.1023A>T (p.Gly341=)
c.2154A>T (p.Gly718=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.102634974T>CCA102712230MANBAc.2367A>G (p.Gly789=)
c.2229A>G (p.Gly743=)
c.*869A>G (n.*869A>G)
c.*1251A>G (n.*1251A>G)
c.1897A>G
c.*1349A>G (n.*1349A>G)
c.*1083A>G (n.*1083A>G)
c.2318A>G (n.2318A>G)
c.2058A>G (p.Gly686=)
n.6464A>G
c.1323A>G (p.Gly441=)
c.984A>G (p.Gly328=)
c.1866A>G (p.Gly622=)
c.1581A>G (p.Gly527=)
c.1023A>G (p.Gly341=)
c.2154A>G (p.Gly718=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.102634974T>GCA440807742MANBAc.2367A>C (p.Gly789=)
c.2229A>C (p.Gly743=)
c.*869A>C (n.*869A>C)
c.*1251A>C (n.*1251A>C)
c.1897A>C
c.*1349A>C (n.*1349A>C)
c.*1083A>C (n.*1083A>C)
c.2318A>C (n.2318A>C)
c.2058A>C (p.Gly686=)
n.6464A>C
c.1323A>C (p.Gly441=)
c.984A>C (p.Gly328=)
c.1866A>C (p.Gly622=)
c.1581A>C (p.Gly527=)
c.1023A>C (p.Gly341=)
c.2154A>C (p.Gly718=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.102634974T=CA1481458339MANBAc.2367A= (p.Gly789=)
c.2229A= (p.Gly743=)
c.*869A= (n.*869A=)
c.*1251A= (n.*1251A=)
c.1897A=
c.*1349A= (n.*1349A=)
c.*1083A= (n.*1083A=)
c.2318A= (n.2318A=)
c.2058A= (p.Gly686=)
n.6464A=
c.1323A= (p.Gly441=)
c.984A= (p.Gly328=)
c.1866A= (p.Gly622=)
c.1581A= (p.Gly527=)
c.1023A= (p.Gly341=)
c.2154A= (p.Gly718=)
4g.102634975C>ACA357756942MANBAc.2366G>T (p.Gly789Val)
c.2228G>T (p.Gly743Val)
c.*868G>T (n.*868G>T)
c.*1250G>T (n.*1250G>T)
c.1896G>T
c.*1348G>T (n.*1348G>T)
c.*1082G>T (n.*1082G>T)
c.2317G>T (n.2317G>T)
c.2057G>T (p.Gly686Val)
n.6463G>T
c.1322G>T (p.Gly441Val)
c.983G>T (p.Gly328Val)
c.1865G>T (p.Gly622Val)
c.1580G>T (p.Gly527Val)
c.1022G>T (p.Gly341Val)
c.2153G>T (p.Gly718Val)
4g.102634975C>GCA357756943MANBAc.2366G>C (p.Gly789Ala)
c.2228G>C (p.Gly743Ala)
c.*868G>C (n.*868G>C)
c.*1250G>C (n.*1250G>C)
c.1896G>C
c.*1348G>C (n.*1348G>C)
c.*1082G>C (n.*1082G>C)
c.2317G>C (n.2317G>C)
c.2057G>C (p.Gly686Ala)
n.6463G>C
c.1322G>C (p.Gly441Ala)
c.983G>C (p.Gly328Ala)
c.1865G>C (p.Gly622Ala)
c.1580G>C (p.Gly527Ala)
c.1022G>C (p.Gly341Ala)
c.2153G>C (p.Gly718Ala)
4g.102634975C>TCA357756944MANBAc.2366G>A (p.Gly789Glu)
c.2228G>A (p.Gly743Glu)
c.*868G>A (n.*868G>A)
c.*1250G>A (n.*1250G>A)
c.1896G>A
c.*1348G>A (n.*1348G>A)
c.*1082G>A (n.*1082G>A)
c.2317G>A (n.2317G>A)
c.2057G>A (p.Gly686Glu)
n.6463G>A
c.1322G>A (p.Gly441Glu)
c.983G>A (p.Gly328Glu)
c.1865G>A (p.Gly622Glu)
c.1580G>A (p.Gly527Glu)
c.1022G>A (p.Gly341Glu)
c.2153G>A (p.Gly718Glu)
4g.102634976C>ACA357756945MANBAc.2365G>T (p.Gly789Ter)
c.2227G>T (p.Gly743Ter)
c.*867G>T (n.*867G>T)
c.*1249G>T (n.*1249G>T)
c.1895G>T
c.*1347G>T (n.*1347G>T)
c.*1081G>T (n.*1081G>T)
c.2316G>T (n.2316G>T)
c.2056G>T (p.Gly686Ter)
n.6462G>T
c.1321G>T (p.Gly441Ter)
c.982G>T (p.Gly328Ter)
c.1864G>T (p.Gly622Ter)
c.1579G>T (p.Gly527Ter)
c.1021G>T (p.Gly341Ter)
c.2152G>T (p.Gly718Ter)
4g.102634976C>GCA357756946MANBAc.2365G>C (p.Gly789Arg)
c.2227G>C (p.Gly743Arg)
c.*867G>C (n.*867G>C)
c.*1249G>C (n.*1249G>C)
c.1895G>C
c.*1347G>C (n.*1347G>C)
c.*1081G>C (n.*1081G>C)
c.2316G>C (n.2316G>C)
c.2056G>C (p.Gly686Arg)
n.6462G>C
c.1321G>C (p.Gly441Arg)
c.982G>C (p.Gly328Arg)
c.1864G>C (p.Gly622Arg)
c.1579G>C (p.Gly527Arg)
c.1021G>C (p.Gly341Arg)
c.2152G>C (p.Gly718Arg)
4g.102634976C>TCA357756947MANBAc.2365G>A (p.Gly789Arg)
c.2227G>A (p.Gly743Arg)
c.*867G>A (n.*867G>A)
c.*1249G>A (n.*1249G>A)
c.1895G>A
c.*1347G>A (n.*1347G>A)
c.*1081G>A (n.*1081G>A)
c.2316G>A (n.2316G>A)
c.2056G>A (p.Gly686Arg)
n.6462G>A
c.1321G>A (p.Gly441Arg)
c.982G>A (p.Gly328Arg)
c.1864G>A (p.Gly622Arg)
c.1579G>A (p.Gly527Arg)
c.1021G>A (p.Gly341Arg)
c.2152G>A (p.Gly718Arg)
4g.102634977T>ACA357756948MANBAc.2364A>T (p.Lys788Asn)
c.2226A>T (p.Lys742Asn)
c.*866A>T (n.*866A>T)
c.*1248A>T (n.*1248A>T)
c.1894A>T
c.*1346A>T (n.*1346A>T)
c.*1080A>T (n.*1080A>T)
c.2315A>T (n.2315A>T)
c.2055A>T (p.Lys685Asn)
n.6461A>T
c.1320A>T (p.Lys440Asn)
c.981A>T (p.Lys327Asn)
c.1863A>T (p.Lys621Asn)
c.1578A>T (p.Lys526Asn)
c.1020A>T (p.Lys340Asn)
c.2151A>T (p.Lys717Asn)
4g.102634977T>CCA440807745MANBAc.2364A>G (p.Lys788=)
c.2226A>G (p.Lys742=)
c.*866A>G (n.*866A>G)
c.*1248A>G (n.*1248A>G)
c.1894A>G
c.*1346A>G (n.*1346A>G)
c.*1080A>G (n.*1080A>G)
c.2315A>G (n.2315A>G)
c.2055A>G (p.Lys685=)
n.6461A>G
c.1320A>G (p.Lys440=)
c.981A>G (p.Lys327=)
c.1863A>G (p.Lys621=)
c.1578A>G (p.Lys526=)
c.1020A>G (p.Lys340=)
c.2151A>G (p.Lys717=)
4g.102634977T>GCA357756949MANBAc.2364A>C (p.Lys788Asn)
c.2226A>C (p.Lys742Asn)
c.*866A>C (n.*866A>C)
c.*1248A>C (n.*1248A>C)
c.1894A>C
c.*1346A>C (n.*1346A>C)
c.*1080A>C (n.*1080A>C)
c.2315A>C (n.2315A>C)
c.2055A>C (p.Lys685Asn)
n.6461A>C
c.1320A>C (p.Lys440Asn)
c.981A>C (p.Lys327Asn)
c.1863A>C (p.Lys621Asn)
c.1578A>C (p.Lys526Asn)
c.1020A>C (p.Lys340Asn)
c.2151A>C (p.Lys717Asn)
4g.102634978T>ACA357756952MANBAc.2363A>T (p.Lys788Ile)
c.2225A>T (p.Lys742Ile)
c.*865A>T (n.*865A>T)
c.*1247A>T (n.*1247A>T)
c.1893A>T
c.*1345A>T (n.*1345A>T)
c.*1079A>T (n.*1079A>T)
c.2314A>T (n.2314A>T)
c.2054A>T (p.Lys685Ile)
n.6460A>T
c.1319A>T (p.Lys440Ile)
c.980A>T (p.Lys327Ile)
c.1862A>T (p.Lys621Ile)
c.1577A>T (p.Lys526Ile)
c.1019A>T (p.Lys340Ile)
c.2150A>T (p.Lys717Ile)
 gnomAD v4
4g.102634978T>CCA357756951MANBAc.2363A>G (p.Lys788Arg)
c.2225A>G (p.Lys742Arg)
c.*865A>G (n.*865A>G)
c.*1247A>G (n.*1247A>G)
c.1893A>G
c.*1345A>G (n.*1345A>G)
c.*1079A>G (n.*1079A>G)
c.2314A>G (n.2314A>G)
c.2054A>G (p.Lys685Arg)
n.6460A>G
c.1319A>G (p.Lys440Arg)
c.980A>G (p.Lys327Arg)
c.1862A>G (p.Lys621Arg)
c.1577A>G (p.Lys526Arg)
c.1019A>G (p.Lys340Arg)
c.2150A>G (p.Lys717Arg)
4g.102634978T>GCA357756950MANBAc.2363A>C (p.Lys788Thr)
c.2225A>C (p.Lys742Thr)
c.*865A>C (n.*865A>C)
c.*1247A>C (n.*1247A>C)
c.1893A>C
c.*1345A>C (n.*1345A>C)
c.*1079A>C (n.*1079A>C)
c.2314A>C (n.2314A>C)
c.2054A>C (p.Lys685Thr)
n.6460A>C
c.1319A>C (p.Lys440Thr)
c.980A>C (p.Lys327Thr)
c.1862A>C (p.Lys621Thr)
c.1577A>C (p.Lys526Thr)
c.1019A>C (p.Lys340Thr)
c.2150A>C (p.Lys717Thr)
4g.102634979T>ACA357756953MANBAc.2362A>T (p.Lys788Ter)
c.2224A>T (p.Lys742Ter)
c.*864A>T (n.*864A>T)
c.*1246A>T (n.*1246A>T)
c.1892A>T
c.*1344A>T (n.*1344A>T)
c.*1078A>T (n.*1078A>T)
c.2313A>T (n.2313A>T)
c.2053A>T (p.Lys685Ter)
n.6459A>T
c.1318A>T (p.Lys440Ter)
c.979A>T (p.Lys327Ter)
c.1861A>T (p.Lys621Ter)
c.1576A>T (p.Lys526Ter)
c.1018A>T (p.Lys340Ter)
c.2149A>T (p.Lys717Ter)
4g.102634979T>CCA357756954MANBAc.2362A>G (p.Lys788Glu)
c.2224A>G (p.Lys742Glu)
c.*864A>G (n.*864A>G)
c.*1246A>G (n.*1246A>G)
c.1892A>G
c.*1344A>G (n.*1344A>G)
c.*1078A>G (n.*1078A>G)
c.2313A>G (n.2313A>G)
c.2053A>G (p.Lys685Glu)
n.6459A>G
c.1318A>G (p.Lys440Glu)
c.979A>G (p.Lys327Glu)
c.1861A>G (p.Lys621Glu)
c.1576A>G (p.Lys526Glu)
c.1018A>G (p.Lys340Glu)
c.2149A>G (p.Lys717Glu)
4g.102634979T>GCA357756955MANBAc.2362A>C (p.Lys788Gln)
c.2224A>C (p.Lys742Gln)
c.*864A>C (n.*864A>C)
c.*1246A>C (n.*1246A>C)
c.1892A>C
c.*1344A>C (n.*1344A>C)
c.*1078A>C (n.*1078A>C)
c.2313A>C (n.2313A>C)
c.2053A>C (p.Lys685Gln)
n.6459A>C
c.1318A>C (p.Lys440Gln)
c.979A>C (p.Lys327Gln)
c.1861A>C (p.Lys621Gln)
c.1576A>C (p.Lys526Gln)
c.1018A>C (p.Lys340Gln)
c.2149A>C (p.Lys717Gln)
 dbSNP
4g.102634979T=CA1481458340MANBAc.2362A= (p.Lys788=)
c.2224A= (p.Lys742=)
c.*864A= (n.*864A=)
c.*1246A= (n.*1246A=)
c.1892A=
c.*1344A= (n.*1344A=)
c.*1078A= (n.*1078A=)
c.2313A= (n.2313A=)
c.2053A= (p.Lys685=)
n.6459A=
c.1318A= (p.Lys440=)
c.979A= (p.Lys327=)
c.1861A= (p.Lys621=)
c.1576A= (p.Lys526=)
c.1018A= (p.Lys340=)
c.2149A= (p.Lys717=)
4g.102634980C>ACA357756956MANBAc.2361G>T (p.Met787Ile)
c.2223G>T (p.Met741Ile)
c.*863G>T (n.*863G>T)
c.*1245G>T (n.*1245G>T)
c.1891G>T
c.*1343G>T (n.*1343G>T)
c.*1077G>T (n.*1077G>T)
c.2312G>T (n.2312G>T)
c.2052G>T (p.Met684Ile)
n.6458G>T
c.1317G>T (p.Met439Ile)
c.978G>T (p.Met326Ile)
c.1860G>T (p.Met620Ile)
c.1575G>T (p.Met525Ile)
c.1017G>T (p.Met339Ile)
c.2148G>T (p.Met716Ile)
4g.102634980C>GCA357756957MANBAc.2361G>C (p.Met787Ile)
c.2223G>C (p.Met741Ile)
c.*863G>C (n.*863G>C)
c.*1245G>C (n.*1245G>C)
c.1891G>C
c.*1343G>C (n.*1343G>C)
c.*1077G>C (n.*1077G>C)
c.2312G>C (n.2312G>C)
c.2052G>C (p.Met684Ile)
n.6458G>C
c.1317G>C (p.Met439Ile)
c.978G>C (p.Met326Ile)
c.1860G>C (p.Met620Ile)
c.1575G>C (p.Met525Ile)
c.1017G>C (p.Met339Ile)
c.2148G>C (p.Met716Ile)
4g.102634980C>TCA357756958MANBAc.2361G>A (p.Met787Ile)
c.2223G>A (p.Met741Ile)
c.*863G>A (n.*863G>A)
c.*1245G>A (n.*1245G>A)
c.1891G>A
c.*1343G>A (n.*1343G>A)
c.*1077G>A (n.*1077G>A)
c.2312G>A (n.2312G>A)
c.2052G>A (p.Met684Ile)
n.6458G>A
c.1317G>A (p.Met439Ile)
c.978G>A (p.Met326Ile)
c.1860G>A (p.Met620Ile)
c.1575G>A (p.Met525Ile)
c.1017G>A (p.Met339Ile)
c.2148G>A (p.Met716Ile)
4g.102634981A=CA1481458341MANBAc.2360T= (p.Met787=)
c.2222T= (p.Met741=)
c.*862T= (n.*862T=)
c.*1244T= (n.*1244T=)
c.1890T=
c.*1342T= (n.*1342T=)
c.*1076T= (n.*1076T=)
c.2311T= (n.2311T=)
c.2051T= (p.Met684=)
n.6457T=
c.1316T= (p.Met439=)
c.977T= (p.Met326=)
c.1859T= (p.Met620=)
c.1574T= (p.Met525=)
c.1016T= (p.Met339=)
c.2147T= (p.Met716=)
4g.102634981A>CCA357756959MANBAc.2360T>G (p.Met787Arg)
c.2222T>G (p.Met741Arg)
c.*862T>G (n.*862T>G)
c.*1244T>G (n.*1244T>G)
c.1890T>G
c.*1342T>G (n.*1342T>G)
c.*1076T>G (n.*1076T>G)
c.2311T>G (n.2311T>G)
c.2051T>G (p.Met684Arg)
n.6457T>G
c.1316T>G (p.Met439Arg)
c.977T>G (p.Met326Arg)
c.1859T>G (p.Met620Arg)
c.1574T>G (p.Met525Arg)
c.1016T>G (p.Met339Arg)
c.2147T>G (p.Met716Arg)
4g.102634981A>GCA102712242MANBAc.2360T>C (p.Met787Thr)
c.2222T>C (p.Met741Thr)
c.*862T>C (n.*862T>C)
c.*1244T>C (n.*1244T>C)
c.1890T>C
c.*1342T>C (n.*1342T>C)
c.*1076T>C (n.*1076T>C)
c.2311T>C (n.2311T>C)
c.2051T>C (p.Met684Thr)
n.6457T>C
c.1316T>C (p.Met439Thr)
c.977T>C (p.Met326Thr)
c.1859T>C (p.Met620Thr)
c.1574T>C (p.Met525Thr)
c.1016T>C (p.Met339Thr)
c.2147T>C (p.Met716Thr)
 dbSNP gnomAD v4
4g.102634981A>TCA357756960MANBAc.2360T>A (p.Met787Lys)
c.2222T>A (p.Met741Lys)
c.*862T>A (n.*862T>A)
c.*1244T>A (n.*1244T>A)
c.1890T>A
c.*1342T>A (n.*1342T>A)
c.*1076T>A (n.*1076T>A)
c.2311T>A (n.2311T>A)
c.2051T>A (p.Met684Lys)
n.6457T>A
c.1316T>A (p.Met439Lys)
c.977T>A (p.Met326Lys)
c.1859T>A (p.Met620Lys)
c.1574T>A (p.Met525Lys)
c.1016T>A (p.Met339Lys)
c.2147T>A (p.Met716Lys)
4g.102634982T>ACA357756961MANBAc.2359A>T (p.Met787Leu)
c.2221A>T (p.Met741Leu)
c.*861A>T (n.*861A>T)
c.*1243A>T (n.*1243A>T)
c.1889A>T
c.*1341A>T (n.*1341A>T)
c.*1075A>T (n.*1075A>T)
c.2310A>T (n.2310A>T)
c.2050A>T (p.Met684Leu)
n.6456A>T
c.1315A>T (p.Met439Leu)
c.976A>T (p.Met326Leu)
c.1858A>T (p.Met620Leu)
c.1573A>T (p.Met525Leu)
c.1015A>T (p.Met339Leu)
c.2146A>T (p.Met716Leu)
4g.102634982T>CCA357756962MANBAc.2359A>G (p.Met787Val)
c.2221A>G (p.Met741Val)
c.*861A>G (n.*861A>G)
c.*1243A>G (n.*1243A>G)
c.1889A>G
c.*1341A>G (n.*1341A>G)
c.*1075A>G (n.*1075A>G)
c.2310A>G (n.2310A>G)
c.2050A>G (p.Met684Val)
n.6456A>G
c.1315A>G (p.Met439Val)
c.976A>G (p.Met326Val)
c.1858A>G (p.Met620Val)
c.1573A>G (p.Met525Val)
c.1015A>G (p.Met339Val)
c.2146A>G (p.Met716Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.102634982T>GCA357756963MANBAc.2359A>C (p.Met787Leu)
c.2221A>C (p.Met741Leu)
c.*861A>C (n.*861A>C)
c.*1243A>C (n.*1243A>C)
c.1889A>C
c.*1341A>C (n.*1341A>C)
c.*1075A>C (n.*1075A>C)
c.2310A>C (n.2310A>C)
c.2050A>C (p.Met684Leu)
n.6456A>C
c.1315A>C (p.Met439Leu)
c.976A>C (p.Met326Leu)
c.1858A>C (p.Met620Leu)
c.1573A>C (p.Met525Leu)
c.1015A>C (p.Met339Leu)
c.2146A>C (p.Met716Leu)
4g.102634982T=CA1481458342MANBAc.2359A= (p.Met787=)
c.2221A= (p.Met741=)
c.*861A= (n.*861A=)
c.*1243A= (n.*1243A=)
c.1889A=
c.*1341A= (n.*1341A=)
c.*1075A= (n.*1075A=)
c.2310A= (n.2310A=)
c.2050A= (p.Met684=)
n.6456A=
c.1315A= (p.Met439=)
c.976A= (p.Met326=)
c.1858A= (p.Met620=)
c.1573A= (p.Met525=)
c.1015A= (p.Met339=)
c.2146A= (p.Met716=)
4g.102634983C>ACA440807749MANBAc.2358G>T (p.Val786=)
c.2220G>T (p.Val740=)
c.*860G>T (n.*860G>T)
c.*1242G>T (n.*1242G>T)
c.1888G>T
c.*1340G>T (n.*1340G>T)
c.*1074G>T (n.*1074G>T)
c.2309G>T (n.2309G>T)
c.2049G>T (p.Val683=)
n.6455G>T
c.1314G>T (p.Val438=)
c.975G>T (p.Val325=)
c.1857G>T (p.Val619=)
c.1572G>T (p.Val524=)
c.1014G>T (p.Val338=)
c.2145G>T (p.Val715=)
4g.102634983C>GCA440807747MANBAc.2358G>C (p.Val786=)
c.2220G>C (p.Val740=)
c.*860G>C (n.*860G>C)
c.*1242G>C (n.*1242G>C)
c.1888G>C
c.*1340G>C (n.*1340G>C)
c.*1074G>C (n.*1074G>C)
c.2309G>C (n.2309G>C)
c.2049G>C (p.Val683=)
n.6455G>C
c.1314G>C (p.Val438=)
c.975G>C (p.Val325=)
c.1857G>C (p.Val619=)
c.1572G>C (p.Val524=)
c.1014G>C (p.Val338=)
c.2145G>C (p.Val715=)
4g.102634983C>TCA440807748MANBAc.2358G>A (p.Val786=)
c.2220G>A (p.Val740=)
c.*860G>A (n.*860G>A)
c.*1242G>A (n.*1242G>A)
c.1888G>A
c.*1340G>A (n.*1340G>A)
c.*1074G>A (n.*1074G>A)
c.2309G>A (n.2309G>A)
c.2049G>A (p.Val683=)
n.6455G>A
c.1314G>A (p.Val438=)
c.975G>A (p.Val325=)
c.1857G>A (p.Val619=)
c.1572G>A (p.Val524=)
c.1014G>A (p.Val338=)
c.2145G>A (p.Val715=)
4g.102634984A>CCA357756966MANBAc.2357T>G (p.Val786Gly)
c.2219T>G (p.Val740Gly)
c.*859T>G (n.*859T>G)
c.*1241T>G (n.*1241T>G)
c.1887T>G
c.*1339T>G (n.*1339T>G)
c.*1073T>G (n.*1073T>G)
c.2308T>G (n.2308T>G)
c.2048T>G (p.Val683Gly)
n.6454T>G
c.1313T>G (p.Val438Gly)
c.974T>G (p.Val325Gly)
c.1856T>G (p.Val619Gly)
c.1571T>G (p.Val524Gly)
c.1013T>G (p.Val338Gly)
c.2144T>G (p.Val715Gly)
4g.102634984A>GCA357756965MANBAc.2357T>C (p.Val786Ala)
c.2219T>C (p.Val740Ala)
c.*859T>C (n.*859T>C)
c.*1241T>C (n.*1241T>C)
c.1887T>C
c.*1339T>C (n.*1339T>C)
c.*1073T>C (n.*1073T>C)
c.2308T>C (n.2308T>C)
c.2048T>C (p.Val683Ala)
n.6454T>C
c.1313T>C (p.Val438Ala)
c.974T>C (p.Val325Ala)
c.1856T>C (p.Val619Ala)
c.1571T>C (p.Val524Ala)
c.1013T>C (p.Val338Ala)
c.2144T>C (p.Val715Ala)
4g.102634984A>TCA357756964MANBAc.2357T>A (p.Val786Glu)
c.2219T>A (p.Val740Glu)
c.*859T>A (n.*859T>A)
c.*1241T>A (n.*1241T>A)
c.1887T>A
c.*1339T>A (n.*1339T>A)
c.*1073T>A (n.*1073T>A)
c.2308T>A (n.2308T>A)
c.2048T>A (p.Val683Glu)
n.6454T>A
c.1313T>A (p.Val438Glu)
c.974T>A (p.Val325Glu)
c.1856T>A (p.Val619Glu)
c.1571T>A (p.Val524Glu)
c.1013T>A (p.Val338Glu)
c.2144T>A (p.Val715Glu)
4g.102634985C>ACA357756967MANBAc.2356G>T (p.Val786Leu)
c.2218G>T (p.Val740Leu)
c.*858G>T (n.*858G>T)
c.*1240G>T (n.*1240G>T)
c.1886G>T
c.*1338G>T (n.*1338G>T)
c.*1072G>T (n.*1072G>T)
c.2307G>T (n.2307G>T)
c.2047G>T (p.Val683Leu)
n.6453G>T
c.1312G>T (p.Val438Leu)
c.973G>T (p.Val325Leu)
c.1855G>T (p.Val619Leu)
c.1570G>T (p.Val524Leu)
c.1012G>T (p.Val338Leu)
c.2143G>T (p.Val715Leu)
4g.102634985C=CA1481458343MANBAc.2356G= (p.Val786=)
c.2218G= (p.Val740=)
c.*858G= (n.*858G=)
c.*1240G= (n.*1240G=)
c.1886G=
c.*1338G= (n.*1338G=)
c.*1072G= (n.*1072G=)
c.2307G= (n.2307G=)
c.2047G= (p.Val683=)
n.6453G=
c.1312G= (p.Val438=)
c.973G= (p.Val325=)
c.1855G= (p.Val619=)
c.1570G= (p.Val524=)
c.1012G= (p.Val338=)
c.2143G= (p.Val715=)
4g.102634985C>GCA357756969MANBAc.2356G>C (p.Val786Leu)
c.2218G>C (p.Val740Leu)
c.*858G>C (n.*858G>C)
c.*1240G>C (n.*1240G>C)
c.1886G>C
c.*1338G>C (n.*1338G>C)
c.*1072G>C (n.*1072G>C)
c.2307G>C (n.2307G>C)
c.2047G>C (p.Val683Leu)
n.6453G>C
c.1312G>C (p.Val438Leu)
c.973G>C (p.Val325Leu)
c.1855G>C (p.Val619Leu)
c.1570G>C (p.Val524Leu)
c.1012G>C (p.Val338Leu)
c.2143G>C (p.Val715Leu)
 dbSNP
4g.102634985C>TCA357756968MANBAc.2356G>A (p.Val786Met)
c.2218G>A (p.Val740Met)
c.*858G>A (n.*858G>A)
c.*1240G>A (n.*1240G>A)
c.1886G>A
c.*1338G>A (n.*1338G>A)
c.*1072G>A (n.*1072G>A)
c.2307G>A (n.2307G>A)
c.2047G>A (p.Val683Met)
n.6453G>A
c.1312G>A (p.Val438Met)
c.973G>A (p.Val325Met)
c.1855G>A (p.Val619Met)
c.1570G>A (p.Val524Met)
c.1012G>A (p.Val338Met)
c.2143G>A (p.Val715Met)
4g.102634986A>CCA357756970MANBAc.2355T>G (p.Phe785Leu)
c.2217T>G (p.Phe739Leu)
c.*857T>G (n.*857T>G)
c.*1239T>G (n.*1239T>G)
c.1885T>G
c.*1337T>G (n.*1337T>G)
c.*1071T>G (n.*1071T>G)
c.2306T>G (n.2306T>G)
c.2046T>G (p.Phe682Leu)
n.6452T>G
c.1311T>G (p.Phe437Leu)
c.972T>G (p.Phe324Leu)
c.1854T>G (p.Phe618Leu)
c.1569T>G (p.Phe523Leu)
c.1011T>G (p.Phe337Leu)
c.2142T>G (p.Phe714Leu)
4g.102634986A>GCA440807753MANBAc.2355T>C (p.Phe785=)
c.2217T>C (p.Phe739=)
c.*857T>C (n.*857T>C)
c.*1239T>C (n.*1239T>C)
c.1885T>C
c.*1337T>C (n.*1337T>C)
c.*1071T>C (n.*1071T>C)
c.2306T>C (n.2306T>C)
c.2046T>C (p.Phe682=)
n.6452T>C
c.1311T>C (p.Phe437=)
c.972T>C (p.Phe324=)
c.1854T>C (p.Phe618=)
c.1569T>C (p.Phe523=)
c.1011T>C (p.Phe337=)
c.2142T>C (p.Phe714=)
4g.102634986A>TCA357756971MANBAc.2355T>A (p.Phe785Leu)
c.2217T>A (p.Phe739Leu)
c.*857T>A (n.*857T>A)
c.*1239T>A (n.*1239T>A)
c.1885T>A
c.*1337T>A (n.*1337T>A)
c.*1071T>A (n.*1071T>A)
c.2306T>A (n.2306T>A)
c.2046T>A (p.Phe682Leu)
n.6452T>A
c.1311T>A (p.Phe437Leu)
c.972T>A (p.Phe324Leu)
c.1854T>A (p.Phe618Leu)
c.1569T>A (p.Phe523Leu)
c.1011T>A (p.Phe337Leu)
c.2142T>A (p.Phe714Leu)
4g.102634987A=CA1481458344MANBAc.2354T= (p.Phe785=)
c.2216T= (p.Phe739=)
c.*856T= (n.*856T=)
c.*1238T= (n.*1238T=)
c.1884T=
c.*1336T= (n.*1336T=)
c.*1070T= (n.*1070T=)
c.2305T= (n.2305T=)
c.2045T= (p.Phe682=)
n.6451T=
c.1310T= (p.Phe437=)
c.971T= (p.Phe324=)
c.1853T= (p.Phe618=)
c.1568T= (p.Phe523=)
c.1010T= (p.Phe337=)
c.2141T= (p.Phe714=)
4g.102634987A>CCA357756972MANBAc.2354T>G (p.Phe785Cys)
c.2216T>G (p.Phe739Cys)
c.*856T>G (n.*856T>G)
c.*1238T>G (n.*1238T>G)
c.1884T>G
c.*1336T>G (n.*1336T>G)
c.*1070T>G (n.*1070T>G)
c.2305T>G (n.2305T>G)
c.2045T>G (p.Phe682Cys)
n.6451T>G
c.1310T>G (p.Phe437Cys)
c.971T>G (p.Phe324Cys)
c.1853T>G (p.Phe618Cys)
c.1568T>G (p.Phe523Cys)
c.1010T>G (p.Phe337Cys)
c.2141T>G (p.Phe714Cys)
4g.102634987A>GCA357756973MANBAc.2354T>C (p.Phe785Ser)
c.2216T>C (p.Phe739Ser)
c.*856T>C (n.*856T>C)
c.*1238T>C (n.*1238T>C)
c.1884T>C
c.*1336T>C (n.*1336T>C)
c.*1070T>C (n.*1070T>C)
c.2305T>C (n.2305T>C)
c.2045T>C (p.Phe682Ser)
n.6451T>C
c.1310T>C (p.Phe437Ser)
c.971T>C (p.Phe324Ser)
c.1853T>C (p.Phe618Ser)
c.1568T>C (p.Phe523Ser)
c.1010T>C (p.Phe337Ser)
c.2141T>C (p.Phe714Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.102634987A>TCA357756974MANBAc.2354T>A (p.Phe785Tyr)
c.2216T>A (p.Phe739Tyr)
c.*856T>A (n.*856T>A)
c.*1238T>A (n.*1238T>A)
c.1884T>A
c.*1336T>A (n.*1336T>A)
c.*1070T>A (n.*1070T>A)
c.2305T>A (n.2305T>A)
c.2045T>A (p.Phe682Tyr)
n.6451T>A
c.1310T>A (p.Phe437Tyr)
c.971T>A (p.Phe324Tyr)
c.1853T>A (p.Phe618Tyr)
c.1568T>A (p.Phe523Tyr)
c.1010T>A (p.Phe337Tyr)
c.2141T>A (p.Phe714Tyr)
4g.102634988A>CCA357756975MANBAc.2353T>G (p.Phe785Val)
c.2215T>G (p.Phe739Val)
c.*855T>G (n.*855T>G)
c.*1237T>G (n.*1237T>G)
c.1883T>G
c.*1335T>G (n.*1335T>G)
c.*1069T>G (n.*1069T>G)
c.2304T>G (n.2304T>G)
c.2044T>G (p.Phe682Val)
n.6450T>G
c.1309T>G (p.Phe437Val)
c.970T>G (p.Phe324Val)
c.1852T>G (p.Phe618Val)
c.1567T>G (p.Phe523Val)
c.1009T>G (p.Phe337Val)
c.2140T>G (p.Phe714Val)
 gnomAD v4
4g.102634988A>GCA357756976MANBAc.2353T>C (p.Phe785Leu)
c.2215T>C (p.Phe739Leu)
c.*855T>C (n.*855T>C)
c.*1237T>C (n.*1237T>C)
c.1883T>C
c.*1335T>C (n.*1335T>C)
c.*1069T>C (n.*1069T>C)
c.2304T>C (n.2304T>C)
c.2044T>C (p.Phe682Leu)
n.6450T>C
c.1309T>C (p.Phe437Leu)
c.970T>C (p.Phe324Leu)
c.1852T>C (p.Phe618Leu)
c.1567T>C (p.Phe523Leu)
c.1009T>C (p.Phe337Leu)
c.2140T>C (p.Phe714Leu)
4g.102634988A>TCA357756977MANBAc.2353T>A (p.Phe785Ile)
c.2215T>A (p.Phe739Ile)
c.*855T>A (n.*855T>A)
c.*1237T>A (n.*1237T>A)
c.1883T>A
c.*1335T>A (n.*1335T>A)
c.*1069T>A (n.*1069T>A)
c.2304T>A (n.2304T>A)
c.2044T>A (p.Phe682Ile)
n.6450T>A
c.1309T>A (p.Phe437Ile)
c.970T>A (p.Phe324Ile)
c.1852T>A (p.Phe618Ile)
c.1567T>A (p.Phe523Ile)
c.1009T>A (p.Phe337Ile)
c.2140T>A (p.Phe714Ile)
4g.102634989A>CCA440807755MANBAc.2352T>G (p.Arg784=)
c.2214T>G (p.Arg738=)
c.*854T>G (n.*854T>G)
c.*1236T>G (n.*1236T>G)
c.1882T>G
c.*1334T>G (n.*1334T>G)
c.*1068T>G (n.*1068T>G)
c.2303T>G (n.2303T>G)
c.2043T>G (p.Arg681=)
n.6449T>G
c.1308T>G (p.Arg436=)
c.969T>G (p.Arg323=)
c.1851T>G (p.Arg617=)
c.1566T>G (p.Arg522=)
c.1008T>G (p.Arg336=)
c.2139T>G (p.Arg713=)
4g.102634989A>GCA440807756MANBAc.2352T>C (p.Arg784=)
c.2214T>C (p.Arg738=)
c.*854T>C (n.*854T>C)
c.*1236T>C (n.*1236T>C)
c.1882T>C
c.*1334T>C (n.*1334T>C)
c.*1068T>C (n.*1068T>C)
c.2303T>C (n.2303T>C)
c.2043T>C (p.Arg681=)
n.6449T>C
c.1308T>C (p.Arg436=)
c.969T>C (p.Arg323=)
c.1851T>C (p.Arg617=)
c.1566T>C (p.Arg522=)
c.1008T>C (p.Arg336=)
c.2139T>C (p.Arg713=)
4g.102634989A>TCA440807757MANBAc.2352T>A (p.Arg784=)
c.2214T>A (p.Arg738=)
c.*854T>A (n.*854T>A)
c.*1236T>A (n.*1236T>A)
c.1882T>A
c.*1334T>A (n.*1334T>A)
c.*1068T>A (n.*1068T>A)
c.2303T>A (n.2303T>A)
c.2043T>A (p.Arg681=)
n.6449T>A
c.1308T>A (p.Arg436=)
c.969T>A (p.Arg323=)
c.1851T>A (p.Arg617=)
c.1566T>A (p.Arg522=)
c.1008T>A (p.Arg336=)
c.2139T>A (p.Arg713=)
4g.102634990C>ACA357756978MANBAc.2351G>T (p.Arg784Leu)
c.2213G>T (p.Arg738Leu)
c.*853G>T (n.*853G>T)
c.*1235G>T (n.*1235G>T)
c.1881G>T
c.*1333G>T (n.*1333G>T)
c.*1067G>T (n.*1067G>T)
c.2302G>T (n.2302G>T)
c.2042G>T (p.Arg681Leu)
n.6448G>T
c.1307G>T (p.Arg436Leu)
c.968G>T (p.Arg323Leu)
c.1850G>T (p.Arg617Leu)
c.1565G>T (p.Arg522Leu)
c.1007G>T (p.Arg336Leu)
c.2138G>T (p.Arg713Leu)
 dbSNP
4g.102634990C=CA1481458345MANBAc.2351G= (p.Arg784=)
c.2213G= (p.Arg738=)
c.*853G= (n.*853G=)
c.*1235G= (n.*1235G=)
c.1881G=
c.*1333G= (n.*1333G=)
c.*1067G= (n.*1067G=)
c.2302G= (n.2302G=)
c.2042G= (p.Arg681=)
n.6448G=
c.1307G= (p.Arg436=)
c.968G= (p.Arg323=)
c.1850G= (p.Arg617=)
c.1565G= (p.Arg522=)
c.1007G= (p.Arg336=)
c.2138G= (p.Arg713=)
4g.102634990C>GCA357756979MANBAc.2351G>C (p.Arg784Pro)
c.2213G>C (p.Arg738Pro)
c.*853G>C (n.*853G>C)
c.*1235G>C (n.*1235G>C)
c.1881G>C
c.*1333G>C (n.*1333G>C)
c.*1067G>C (n.*1067G>C)
c.2302G>C (n.2302G>C)
c.2042G>C (p.Arg681Pro)
n.6448G>C
c.1307G>C (p.Arg436Pro)
c.968G>C (p.Arg323Pro)
c.1850G>C (p.Arg617Pro)
c.1565G>C (p.Arg522Pro)
c.1007G>C (p.Arg336Pro)
c.2138G>C (p.Arg713Pro)
4g.102634990C>TCA102712249MANBAc.2351G>A (p.Arg784His)
c.2213G>A (p.Arg738His)
c.*853G>A (n.*853G>A)
c.*1235G>A (n.*1235G>A)
c.1881G>A
c.*1333G>A (n.*1333G>A)
c.*1067G>A (n.*1067G>A)
c.2302G>A (n.2302G>A)
c.2042G>A (p.Arg681His)
n.6448G>A
c.1307G>A (p.Arg436His)
c.968G>A (p.Arg323His)
c.1850G>A (p.Arg617His)
c.1565G>A (p.Arg522His)
c.1007G>A (p.Arg336His)
c.2138G>A (p.Arg713His)
 dbSNP gnomAD v3 gnomAD v4
4g.102634991G>ACA3026667MANBAc.2350C>T (p.Arg784Cys)
c.2212C>T (p.Arg738Cys)
c.*852C>T (n.*852C>T)
c.*1234C>T (n.*1234C>T)
c.1880C>T
c.*1332C>T (n.*1332C>T)
c.*1066C>T (n.*1066C>T)
c.2301C>T (n.2301C>T)
c.2041C>T (p.Arg681Cys)
n.6447C>T
c.1306C>T (p.Arg436Cys)
c.967C>T (p.Arg323Cys)
c.1849C>T (p.Arg617Cys)
c.1564C>T (p.Arg522Cys)
c.1006C>T (p.Arg336Cys)
c.2137C>T (p.Arg713Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.102634991G>CCA357756980MANBAc.2350C>G (p.Arg784Gly)
c.2212C>G (p.Arg738Gly)
c.*852C>G (n.*852C>G)
c.*1234C>G (n.*1234C>G)
c.1880C>G
c.*1332C>G (n.*1332C>G)
c.*1066C>G (n.*1066C>G)
c.2301C>G (n.2301C>G)
c.2041C>G (p.Arg681Gly)
n.6447C>G
c.1306C>G (p.Arg436Gly)
c.967C>G (p.Arg323Gly)
c.1849C>G (p.Arg617Gly)
c.1564C>G (p.Arg522Gly)
c.1006C>G (p.Arg336Gly)
c.2137C>G (p.Arg713Gly)
4g.102634991G=CA1481458346MANBAc.2350C= (p.Arg784=)
c.2212C= (p.Arg738=)
c.*852C= (n.*852C=)
c.*1234C= (n.*1234C=)
c.1880C=
c.*1332C= (n.*1332C=)
c.*1066C= (n.*1066C=)
c.2301C= (n.2301C=)
c.2041C= (p.Arg681=)
n.6447C=
c.1306C= (p.Arg436=)
c.967C= (p.Arg323=)
c.1849C= (p.Arg617=)
c.1564C= (p.Arg522=)
c.1006C= (p.Arg336=)
c.2137C= (p.Arg713=)
4g.102634991G>TCA357756981MANBAc.2350C>A (p.Arg784Ser)
c.2212C>A (p.Arg738Ser)
c.*852C>A (n.*852C>A)
c.*1234C>A (n.*1234C>A)
c.1880C>A
c.*1332C>A (n.*1332C>A)
c.*1066C>A (n.*1066C>A)
c.2301C>A (n.2301C>A)
c.2041C>A (p.Arg681Ser)
n.6447C>A
c.1306C>A (p.Arg436Ser)
c.967C>A (p.Arg323Ser)
c.1849C>A (p.Arg617Ser)
c.1564C>A (p.Arg522Ser)
c.1006C>A (p.Arg336Ser)
c.2137C>A (p.Arg713Ser)
4g.102634992T>ACA357756982MANBAc.2349A>T (p.Glu783Asp)
c.2211A>T (p.Glu737Asp)
c.*851A>T (n.*851A>T)
c.*1233A>T (n.*1233A>T)
c.1879A>T
c.*1331A>T (n.*1331A>T)
c.*1065A>T (n.*1065A>T)
c.2300A>T (n.2300A>T)
c.2040A>T (p.Glu680Asp)
n.6446A>T
c.1305A>T (p.Glu435Asp)
c.966A>T (p.Glu322Asp)
c.1848A>T (p.Glu616Asp)
c.1563A>T (p.Glu521Asp)
c.1005A>T (p.Glu335Asp)
c.2136A>T (p.Glu712Asp)
4g.102634992T>CCA440807761MANBAc.2349A>G (p.Glu783=)
c.2211A>G (p.Glu737=)
c.*851A>G (n.*851A>G)
c.*1233A>G (n.*1233A>G)
c.1879A>G
c.*1331A>G (n.*1331A>G)
c.*1065A>G (n.*1065A>G)
c.2300A>G (n.2300A>G)
c.2040A>G (p.Glu680=)
n.6446A>G
c.1305A>G (p.Glu435=)
c.966A>G (p.Glu322=)
c.1848A>G (p.Glu616=)
c.1563A>G (p.Glu521=)
c.1005A>G (p.Glu335=)
c.2136A>G (p.Glu712=)
4g.102634992T>GCA357756983MANBAc.2349A>C (p.Glu783Asp)
c.2211A>C (p.Glu737Asp)
c.*851A>C (n.*851A>C)
c.*1233A>C (n.*1233A>C)
c.1879A>C
c.*1331A>C (n.*1331A>C)
c.*1065A>C (n.*1065A>C)
c.2300A>C (n.2300A>C)
c.2040A>C (p.Glu680Asp)
n.6446A>C
c.1305A>C (p.Glu435Asp)
c.966A>C (p.Glu322Asp)
c.1848A>C (p.Glu616Asp)
c.1563A>C (p.Glu521Asp)
c.1005A>C (p.Glu335Asp)
c.2136A>C (p.Glu712Asp)
4g.102634993T>ACA357756984MANBAc.2348A>T (p.Glu783Val)
c.2210A>T (p.Glu737Val)
c.*850A>T (n.*850A>T)
c.*1232A>T (n.*1232A>T)
c.1878A>T
c.*1330A>T (n.*1330A>T)
c.*1064A>T (n.*1064A>T)
c.2299A>T (n.2299A>T)
c.2039A>T (p.Glu680Val)
n.6445A>T
c.1304A>T (p.Glu435Val)
c.965A>T (p.Glu322Val)
c.1847A>T (p.Glu616Val)
c.1562A>T (p.Glu521Val)
c.1004A>T (p.Glu335Val)
c.2135A>T (p.Glu712Val)
4g.102634993T>CCA357756985MANBAc.2348A>G (p.Glu783Gly)
c.2210A>G (p.Glu737Gly)
c.*850A>G (n.*850A>G)
c.*1232A>G (n.*1232A>G)
c.1878A>G
c.*1330A>G (n.*1330A>G)
c.*1064A>G (n.*1064A>G)
c.2299A>G (n.2299A>G)
c.2039A>G (p.Glu680Gly)
n.6445A>G
c.1304A>G (p.Glu435Gly)
c.965A>G (p.Glu322Gly)
c.1847A>G (p.Glu616Gly)
c.1562A>G (p.Glu521Gly)
c.1004A>G (p.Glu335Gly)
c.2135A>G (p.Glu712Gly)
4g.102634993T>GCA357756986MANBAc.2348A>C (p.Glu783Ala)
c.2210A>C (p.Glu737Ala)
c.*850A>C (n.*850A>C)
c.*1232A>C (n.*1232A>C)
c.1878A>C
c.*1330A>C (n.*1330A>C)
c.*1064A>C (n.*1064A>C)
c.2299A>C (n.2299A>C)
c.2039A>C (p.Glu680Ala)
n.6445A>C
c.1304A>C (p.Glu435Ala)
c.965A>C (p.Glu322Ala)
c.1847A>C (p.Glu616Ala)
c.1562A>C (p.Glu521Ala)
c.1004A>C (p.Glu335Ala)
c.2135A>C (p.Glu712Ala)
4g.102634994C>ACA357756987MANBAc.2347G>T (p.Glu783Ter)
c.2209G>T (p.Glu737Ter)
c.*849G>T (n.*849G>T)
c.*1231G>T (n.*1231G>T)
c.1877G>T
c.*1329G>T (n.*1329G>T)
c.*1063G>T (n.*1063G>T)
c.2298G>T (n.2298G>T)
c.2038G>T (p.Glu680Ter)
n.6444G>T
c.1303G>T (p.Glu435Ter)
c.964G>T (p.Glu322Ter)
c.1846G>T (p.Glu616Ter)
c.1561G>T (p.Glu521Ter)
c.1003G>T (p.Glu335Ter)
c.2134G>T (p.Glu712Ter)
4g.102634994C=CA1481458347MANBAc.2347G= (p.Glu783=)
c.2209G= (p.Glu737=)
c.*849G= (n.*849G=)
c.*1231G= (n.*1231G=)
c.1877G=
c.*1329G= (n.*1329G=)
c.*1063G= (n.*1063G=)
c.2298G= (n.2298G=)
c.2038G= (p.Glu680=)
n.6444G=
c.1303G= (p.Glu435=)
c.964G= (p.Glu322=)
c.1846G= (p.Glu616=)
c.1561G= (p.Glu521=)
c.1003G= (p.Glu335=)
c.2134G= (p.Glu712=)
4g.102634994C>GCA357756988MANBAc.2347G>C (p.Glu783Gln)
c.2209G>C (p.Glu737Gln)
c.*849G>C (n.*849G>C)
c.*1231G>C (n.*1231G>C)
c.1877G>C
c.*1329G>C (n.*1329G>C)
c.*1063G>C (n.*1063G>C)
c.2298G>C (n.2298G>C)
c.2038G>C (p.Glu680Gln)
n.6444G>C
c.1303G>C (p.Glu435Gln)
c.964G>C (p.Glu322Gln)
c.1846G>C (p.Glu616Gln)
c.1561G>C (p.Glu521Gln)
c.1003G>C (p.Glu335Gln)
c.2134G>C (p.Glu712Gln)
4g.102634994C>TCA3026668MANBAc.2347G>A (p.Glu783Lys)
c.2209G>A (p.Glu737Lys)
c.*849G>A (n.*849G>A)
c.*1231G>A (n.*1231G>A)
c.1877G>A
c.*1329G>A (n.*1329G>A)
c.*1063G>A (n.*1063G>A)
c.2298G>A (n.2298G>A)
c.2038G>A (p.Glu680Lys)
n.6444G>A
c.1303G>A (p.Glu435Lys)
c.964G>A (p.Glu322Lys)
c.1846G>A (p.Glu616Lys)
c.1561G>A (p.Glu521Lys)
c.1003G>A (p.Glu335Lys)
c.2134G>A (p.Glu712Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.102634995A=CA1481458348MANBAc.2346T= (p.Thr782=)
c.2208T= (p.Thr736=)
c.*848T= (n.*848T=)
c.*1230T= (n.*1230T=)
c.1876T=
c.*1328T= (n.*1328T=)
c.*1062T= (n.*1062T=)
c.2297T= (n.2297T=)
c.2037T= (p.Thr679=)
n.6443T=
c.1302T= (p.Thr434=)
c.963T= (p.Thr321=)
c.1845T= (p.Thr615=)
c.1560T= (p.Thr520=)
c.1002T= (p.Thr334=)
c.2133T= (p.Thr711=)
4g.102634995A>CCA440807763MANBAc.2346T>G (p.Thr782=)
c.2208T>G (p.Thr736=)
c.*848T>G (n.*848T>G)
c.*1230T>G (n.*1230T>G)
c.1876T>G
c.*1328T>G (n.*1328T>G)
c.*1062T>G (n.*1062T>G)
c.2297T>G (n.2297T>G)
c.2037T>G (p.Thr679=)
n.6443T>G
c.1302T>G (p.Thr434=)
c.963T>G (p.Thr321=)
c.1845T>G (p.Thr615=)
c.1560T>G (p.Thr520=)
c.1002T>G (p.Thr334=)
c.2133T>G (p.Thr711=)
4g.102634995A>GCA102712266MANBAc.2346T>C (p.Thr782=)
c.2208T>C (p.Thr736=)
c.*848T>C (n.*848T>C)
c.*1230T>C (n.*1230T>C)
c.1876T>C
c.*1328T>C (n.*1328T>C)
c.*1062T>C (n.*1062T>C)
c.2297T>C (n.2297T>C)
c.2037T>C (p.Thr679=)
n.6443T>C
c.1302T>C (p.Thr434=)
c.963T>C (p.Thr321=)
c.1845T>C (p.Thr615=)
c.1560T>C (p.Thr520=)
c.1002T>C (p.Thr334=)
c.2133T>C (p.Thr711=)
 dbSNP
4g.102634995A>TCA440807764MANBAc.2346T>A (p.Thr782=)
c.2208T>A (p.Thr736=)
c.*848T>A (n.*848T>A)
c.*1230T>A (n.*1230T>A)
c.1876T>A
c.*1328T>A (n.*1328T>A)
c.*1062T>A (n.*1062T>A)
c.2297T>A (n.2297T>A)
c.2037T>A (p.Thr679=)
n.6443T>A
c.1302T>A (p.Thr434=)
c.963T>A (p.Thr321=)
c.1845T>A (p.Thr615=)
c.1560T>A (p.Thr520=)
c.1002T>A (p.Thr334=)
c.2133T>A (p.Thr711=)
4g.102634996G>ACA3026669MANBAc.2345C>T (p.Thr782Ile)
c.2207C>T (p.Thr736Ile)
c.*847C>T (n.*847C>T)
c.*1229C>T (n.*1229C>T)
c.1875C>T
c.*1327C>T (n.*1327C>T)
c.*1061C>T (n.*1061C>T)
c.2296C>T (n.2296C>T)
c.2036C>T (p.Thr679Ile)
n.6442C>T
c.1301C>T (p.Thr434Ile)
c.962C>T (p.Thr321Ile)
c.1844C>T (p.Thr615Ile)
c.1559C>T (p.Thr520Ile)
c.1001C>T (p.Thr334Ile)
c.2132C>T (p.Thr711Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.102634996G>CCA357756989MANBAc.2345C>G (p.Thr782Ser)
c.2207C>G (p.Thr736Ser)
c.*847C>G (n.*847C>G)
c.*1229C>G (n.*1229C>G)
c.1875C>G
c.*1327C>G (n.*1327C>G)
c.*1061C>G (n.*1061C>G)
c.2296C>G (n.2296C>G)
c.2036C>G (p.Thr679Ser)
n.6442C>G
c.1301C>G (p.Thr434Ser)
c.962C>G (p.Thr321Ser)
c.1844C>G (p.Thr615Ser)
c.1559C>G (p.Thr520Ser)
c.1001C>G (p.Thr334Ser)
c.2132C>G (p.Thr711Ser)
4g.102634996G=CA1481458349MANBAc.2345C= (p.Thr782=)
c.2207C= (p.Thr736=)
c.*847C= (n.*847C=)
c.*1229C= (n.*1229C=)
c.1875C=
c.*1327C= (n.*1327C=)
c.*1061C= (n.*1061C=)
c.2296C= (n.2296C=)
c.2036C= (p.Thr679=)
n.6442C=
c.1301C= (p.Thr434=)
c.962C= (p.Thr321=)
c.1844C= (p.Thr615=)
c.1559C= (p.Thr520=)
c.1001C= (p.Thr334=)
c.2132C= (p.Thr711=)
4g.102634996G>TCA357756990MANBAc.2345C>A (p.Thr782Asn)
c.2207C>A (p.Thr736Asn)
c.*847C>A (n.*847C>A)
c.*1229C>A (n.*1229C>A)
c.1875C>A
c.*1327C>A (n.*1327C>A)
c.*1061C>A (n.*1061C>A)
c.2296C>A (n.2296C>A)
c.2036C>A (p.Thr679Asn)
n.6442C>A
c.1301C>A (p.Thr434Asn)
c.962C>A (p.Thr321Asn)
c.1844C>A (p.Thr615Asn)
c.1559C>A (p.Thr520Asn)
c.1001C>A (p.Thr334Asn)
c.2132C>A (p.Thr711Asn)
4g.102634997T>ACA357756992MANBAc.2344A>T (p.Thr782Ser)
c.2206A>T (p.Thr736Ser)
c.*846A>T (n.*846A>T)
c.*1228A>T (n.*1228A>T)
c.1874A>T
c.*1326A>T (n.*1326A>T)
c.*1060A>T (n.*1060A>T)
c.2295A>T (n.2295A>T)
c.2035A>T (p.Thr679Ser)
n.6441A>T
c.1300A>T (p.Thr434Ser)
c.961A>T (p.Thr321Ser)
c.1843A>T (p.Thr615Ser)
c.1558A>T (p.Thr520Ser)
c.1000A>T (p.Thr334Ser)
c.2131A>T (p.Thr711Ser)
4g.102634997T>CCA102712271MANBAc.2344A>G (p.Thr782Ala)
c.2206A>G (p.Thr736Ala)
c.*846A>G (n.*846A>G)
c.*1228A>G (n.*1228A>G)
c.1874A>G
c.*1326A>G (n.*1326A>G)
c.*1060A>G (n.*1060A>G)
c.2295A>G (n.2295A>G)
c.2035A>G (p.Thr679Ala)
n.6441A>G
c.1300A>G (p.Thr434Ala)
c.961A>G (p.Thr321Ala)
c.1843A>G (p.Thr615Ala)
c.1558A>G (p.Thr520Ala)
c.1000A>G (p.Thr334Ala)
c.2131A>G (p.Thr711Ala)
 dbSNP
4g.102634997T>GCA357756991MANBAc.2344A>C (p.Thr782Pro)
c.2206A>C (p.Thr736Pro)
c.*846A>C (n.*846A>C)
c.*1228A>C (n.*1228A>C)
c.1874A>C
c.*1326A>C (n.*1326A>C)
c.*1060A>C (n.*1060A>C)
c.2295A>C (n.2295A>C)
c.2035A>C (p.Thr679Pro)
n.6441A>C
c.1300A>C (p.Thr434Pro)
c.961A>C (p.Thr321Pro)
c.1843A>C (p.Thr615Pro)
c.1558A>C (p.Thr520Pro)
c.1000A>C (p.Thr334Pro)
c.2131A>C (p.Thr711Pro)
4g.102634997T=CA1481458350MANBAc.2344A= (p.Thr782=)
c.2206A= (p.Thr736=)
c.*846A= (n.*846A=)
c.*1228A= (n.*1228A=)
c.1874A=
c.*1326A= (n.*1326A=)
c.*1060A= (n.*1060A=)
c.2295A= (n.2295A=)
c.2035A= (p.Thr679=)
n.6441A=
c.1300A= (p.Thr434=)
c.961A= (p.Thr321=)
c.1843A= (p.Thr615=)
c.1558A= (p.Thr520=)
c.1000A= (p.Thr334=)
c.2131A= (p.Thr711=)
4g.102634998C>ACA440807765MANBAc.2343G>T (p.Val781=)
c.2205G>T (p.Val735=)
c.*845G>T (n.*845G>T)
c.*1227G>T (n.*1227G>T)
c.1873G>T
c.*1325G>T (n.*1325G>T)
c.*1059G>T (n.*1059G>T)
c.2294G>T (n.2294G>T)
c.2034G>T (p.Val678=)
n.6440G>T
c.1299G>T (p.Val433=)
c.960G>T (p.Val320=)
c.1842G>T (p.Val614=)
c.1557G>T (p.Val519=)
c.999G>T (p.Val333=)
c.2130G>T (p.Val710=)
4g.102634998C>GCA440807766MANBAc.2343G>C (p.Val781=)
c.2205G>C (p.Val735=)
c.*845G>C (n.*845G>C)
c.*1227G>C (n.*1227G>C)
c.1873G>C
c.*1325G>C (n.*1325G>C)
c.*1059G>C (n.*1059G>C)
c.2294G>C (n.2294G>C)
c.2034G>C (p.Val678=)
n.6440G>C
c.1299G>C (p.Val433=)
c.960G>C (p.Val320=)
c.1842G>C (p.Val614=)
c.1557G>C (p.Val519=)
c.999G>C (p.Val333=)
c.2130G>C (p.Val710=)
4g.102634998C>TCA440807767MANBAc.2343G>A (p.Val781=)
c.2205G>A (p.Val735=)
c.*845G>A (n.*845G>A)
c.*1227G>A (n.*1227G>A)
c.1873G>A
c.*1325G>A (n.*1325G>A)
c.*1059G>A (n.*1059G>A)
c.2294G>A (n.2294G>A)
c.2034G>A (p.Val678=)
n.6440G>A
c.1299G>A (p.Val433=)
c.960G>A (p.Val320=)
c.1842G>A (p.Val614=)
c.1557G>A (p.Val519=)
c.999G>A (p.Val333=)
c.2130G>A (p.Val710=)
 gnomAD v4
4g.102634999A>CCA357756993MANBAc.2342T>G (p.Val781Gly)
c.2204T>G (p.Val735Gly)
c.*844T>G (n.*844T>G)
c.*1226T>G (n.*1226T>G)
c.1872T>G
c.*1324T>G (n.*1324T>G)
c.*1058T>G (n.*1058T>G)
c.2293T>G (n.2293T>G)
c.2033T>G (p.Val678Gly)
n.6439T>G
c.1298T>G (p.Val433Gly)
c.959T>G (p.Val320Gly)
c.1841T>G (p.Val614Gly)
c.1556T>G (p.Val519Gly)
c.998T>G (p.Val333Gly)
c.2129T>G (p.Val710Gly)
4g.102634999A>GCA357756994MANBAc.2342T>C (p.Val781Ala)
c.2204T>C (p.Val735Ala)
c.*844T>C (n.*844T>C)
c.*1226T>C (n.*1226T>C)
c.1872T>C
c.*1324T>C (n.*1324T>C)
c.*1058T>C (n.*1058T>C)
c.2293T>C (n.2293T>C)
c.2033T>C (p.Val678Ala)
n.6439T>C
c.1298T>C (p.Val433Ala)
c.959T>C (p.Val320Ala)
c.1841T>C (p.Val614Ala)
c.1556T>C (p.Val519Ala)
c.998T>C (p.Val333Ala)
c.2129T>C (p.Val710Ala)
4g.102634999A>TCA357756995MANBAc.2342T>A (p.Val781Glu)
c.2204T>A (p.Val735Glu)
c.*844T>A (n.*844T>A)
c.*1226T>A (n.*1226T>A)
c.1872T>A
c.*1324T>A (n.*1324T>A)
c.*1058T>A (n.*1058T>A)
c.2293T>A (n.2293T>A)
c.2033T>A (p.Val678Glu)
n.6439T>A
c.1298T>A (p.Val433Glu)
c.959T>A (p.Val320Glu)
c.1841T>A (p.Val614Glu)
c.1556T>A (p.Val519Glu)
c.998T>A (p.Val333Glu)
c.2129T>A (p.Val710Glu)
4g.102635000C>ACA357756996MANBAc.2341G>T (p.Val781Leu)
c.2203G>T (p.Val735Leu)
c.*843G>T (n.*843G>T)
c.*1225G>T (n.*1225G>T)
c.1871G>T
c.*1323G>T (n.*1323G>T)
c.*1057G>T (n.*1057G>T)
c.2292G>T (n.2292G>T)
c.2032G>T (p.Val678Leu)
n.6438G>T
c.1297G>T (p.Val433Leu)
c.958G>T (p.Val320Leu)
c.1840G>T (p.Val614Leu)
c.1555G>T (p.Val519Leu)
c.997G>T (p.Val333Leu)
c.2128G>T (p.Val710Leu)
4g.102635000C>GCA357756997MANBAc.2341G>C (p.Val781Leu)
c.2203G>C (p.Val735Leu)
c.*843G>C (n.*843G>C)
c.*1225G>C (n.*1225G>C)
c.1871G>C
c.*1323G>C (n.*1323G>C)
c.*1057G>C (n.*1057G>C)
c.2292G>C (n.2292G>C)
c.2032G>C (p.Val678Leu)
n.6438G>C
c.1297G>C (p.Val433Leu)
c.958G>C (p.Val320Leu)
c.1840G>C (p.Val614Leu)
c.1555G>C (p.Val519Leu)
c.997G>C (p.Val333Leu)
c.2128G>C (p.Val710Leu)
4g.102635000C>TCA357756998MANBAc.2341G>A (p.Val781Met)
c.2203G>A (p.Val735Met)
c.*843G>A (n.*843G>A)
c.*1225G>A (n.*1225G>A)
c.1871G>A
c.*1323G>A (n.*1323G>A)
c.*1057G>A (n.*1057G>A)
c.2292G>A (n.2292G>A)
c.2032G>A (p.Val678Met)
n.6438G>A
c.1297G>A (p.Val433Met)
c.958G>A (p.Val320Met)
c.1840G>A (p.Val614Met)
c.1555G>A (p.Val519Met)
c.997G>A (p.Val333Met)
c.2128G>A (p.Val710Met)
4g.102635001A>CCA440807769MANBAc.2340T>G (p.Arg780=)
c.2202T>G (p.Arg734=)
c.*842T>G (n.*842T>G)
c.*1224T>G (n.*1224T>G)
c.1870T>G
c.*1322T>G (n.*1322T>G)
c.*1056T>G (n.*1056T>G)
c.2291T>G (n.2291T>G)
c.2031T>G (p.Arg677=)
n.6437T>G
c.1296T>G (p.Arg432=)
c.957T>G (p.Arg319=)
c.1839T>G (p.Arg613=)
c.1554T>G (p.Arg518=)
c.996T>G (p.Arg332=)
c.2127T>G (p.Arg709=)
4g.102635001A>GCA440807770MANBAc.2340T>C (p.Arg780=)
c.2202T>C (p.Arg734=)
c.*842T>C (n.*842T>C)
c.*1224T>C (n.*1224T>C)
c.1870T>C
c.*1322T>C (n.*1322T>C)
c.*1056T>C (n.*1056T>C)
c.2291T>C (n.2291T>C)
c.2031T>C (p.Arg677=)
n.6437T>C
c.1296T>C (p.Arg432=)
c.957T>C (p.Arg319=)
c.1839T>C (p.Arg613=)
c.1554T>C (p.Arg518=)
c.996T>C (p.Arg332=)
c.2127T>C (p.Arg709=)
4g.102635001A>TCA440807771MANBAc.2340T>A (p.Arg780=)
c.2202T>A (p.Arg734=)
c.*842T>A (n.*842T>A)
c.*1224T>A (n.*1224T>A)
c.1870T>A
c.*1322T>A (n.*1322T>A)
c.*1056T>A (n.*1056T>A)
c.2291T>A (n.2291T>A)
c.2031T>A (p.Arg677=)
n.6437T>A
c.1296T>A (p.Arg432=)
c.957T>A (p.Arg319=)
c.1839T>A (p.Arg613=)
c.1554T>A (p.Arg518=)
c.996T>A (p.Arg332=)
c.2127T>A (p.Arg709=)
 gnomAD v4
4g.102635002C>ACA357756999MANBAc.2339G>T (p.Arg780Leu)
c.2201G>T (p.Arg734Leu)
c.*841G>T (n.*841G>T)
c.*1223G>T (n.*1223G>T)
c.1869G>T
c.*1321G>T (n.*1321G>T)
c.*1055G>T (n.*1055G>T)
c.2290G>T (n.2290G>T)
c.2030G>T (p.Arg677Leu)
n.6436G>T
c.1295G>T (p.Arg432Leu)
c.956G>T (p.Arg319Leu)
c.1838G>T (p.Arg613Leu)
c.1553G>T (p.Arg518Leu)
c.995G>T (p.Arg332Leu)
c.2126G>T (p.Arg709Leu)
4g.102635002C=CA1481458351MANBAc.2339G= (p.Arg780=)
c.2201G= (p.Arg734=)
c.*841G= (n.*841G=)
c.*1223G= (n.*1223G=)
c.1869G=
c.*1321G= (n.*1321G=)
c.*1055G= (n.*1055G=)
c.2290G= (n.2290G=)
c.2030G= (p.Arg677=)
n.6436G=
c.1295G= (p.Arg432=)
c.956G= (p.Arg319=)
c.1838G= (p.Arg613=)
c.1553G= (p.Arg518=)
c.995G= (p.Arg332=)
c.2126G= (p.Arg709=)
4g.102635002C>GCA3026671MANBAc.2339G>C (p.Arg780Pro)
c.2201G>C (p.Arg734Pro)
c.*841G>C (n.*841G>C)
c.*1223G>C (n.*1223G>C)
c.1869G>C
c.*1321G>C (n.*1321G>C)
c.*1055G>C (n.*1055G>C)
c.2290G>C (n.2290G>C)
c.2030G>C (p.Arg677Pro)
n.6436G>C
c.1295G>C (p.Arg432Pro)
c.956G>C (p.Arg319Pro)
c.1838G>C (p.Arg613Pro)
c.1553G>C (p.Arg518Pro)
c.995G>C (p.Arg332Pro)
c.2126G>C (p.Arg709Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.102635002C>TCA3026670MANBAc.2339G>A (p.Arg780His)
c.2201G>A (p.Arg734His)
c.*841G>A (n.*841G>A)
c.*1223G>A (n.*1223G>A)
c.1869G>A
c.*1321G>A (n.*1321G>A)
c.*1055G>A (n.*1055G>A)
c.2290G>A (n.2290G>A)
c.2030G>A (p.Arg677His)
n.6436G>A
c.1295G>A (p.Arg432His)
c.956G>A (p.Arg319His)
c.1838G>A (p.Arg613His)
c.1553G>A (p.Arg518His)
c.995G>A (p.Arg332His)
c.2126G>A (p.Arg709His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.102635003G>ACA3026672MANBAc.2338C>T (p.Arg780Cys)
c.2200C>T (p.Arg734Cys)
c.*840C>T (n.*840C>T)
c.*1222C>T (n.*1222C>T)
c.1868C>T
c.*1320C>T (n.*1320C>T)
c.*1054C>T (n.*1054C>T)
c.2289C>T (n.2289C>T)
c.2029C>T (p.Arg677Cys)
n.6435C>T
c.1294C>T (p.Arg432Cys)
c.955C>T (p.Arg319Cys)
c.1837C>T (p.Arg613Cys)
c.1552C>T (p.Arg518Cys)
c.994C>T (p.Arg332Cys)
c.2125C>T (p.Arg709Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.102635003G>CCA357757000MANBAc.2338C>G (p.Arg780Gly)
c.2200C>G (p.Arg734Gly)
c.*840C>G (n.*840C>G)
c.*1222C>G (n.*1222C>G)
c.1868C>G
c.*1320C>G (n.*1320C>G)
c.*1054C>G (n.*1054C>G)
c.2289C>G (n.2289C>G)
c.2029C>G (p.Arg677Gly)
n.6435C>G
c.1294C>G (p.Arg432Gly)
c.955C>G (p.Arg319Gly)
c.1837C>G (p.Arg613Gly)
c.1552C>G (p.Arg518Gly)
c.994C>G (p.Arg332Gly)
c.2125C>G (p.Arg709Gly)
4g.102635003G=CA1481458352MANBAc.2338C= (p.Arg780=)
c.2200C= (p.Arg734=)
c.*840C= (n.*840C=)
c.*1222C= (n.*1222C=)
c.1868C=
c.*1320C= (n.*1320C=)
c.*1054C= (n.*1054C=)
c.2289C= (n.2289C=)
c.2029C= (p.Arg677=)
n.6435C=
c.1294C= (p.Arg432=)
c.955C= (p.Arg319=)
c.1837C= (p.Arg613=)
c.1552C= (p.Arg518=)
c.994C= (p.Arg332=)
c.2125C= (p.Arg709=)
4g.102635003G>TCA357757001MANBAc.2338C>A (p.Arg780Ser)
c.2200C>A (p.Arg734Ser)
c.*840C>A (n.*840C>A)
c.*1222C>A (n.*1222C>A)
c.1868C>A
c.*1320C>A (n.*1320C>A)
c.*1054C>A (n.*1054C>A)
c.2289C>A (n.2289C>A)
c.2029C>A (p.Arg677Ser)
n.6435C>A
c.1294C>A (p.Arg432Ser)
c.955C>A (p.Arg319Ser)
c.1837C>A (p.Arg613Ser)
c.1552C>A (p.Arg518Ser)
c.994C>A (p.Arg332Ser)
c.2125C>A (p.Arg709Ser)
4g.102635004A>CCA440807774MANBAc.2337T>G (p.Ser779=)
c.2199T>G (p.Ser733=)
c.*839T>G (n.*839T>G)
c.*1221T>G (n.*1221T>G)
c.1867T>G
c.*1319T>G (n.*1319T>G)
c.*1053T>G (n.*1053T>G)
c.2288T>G (n.2288T>G)
c.2028T>G (p.Ser676=)
n.6434T>G
c.1293T>G (p.Ser431=)
c.954T>G (p.Ser318=)
c.1836T>G (p.Ser612=)
c.1551T>G (p.Ser517=)
c.993T>G (p.Ser331=)
c.2124T>G (p.Ser708=)
4g.102635004A>GCA440807773MANBAc.2337T>C (p.Ser779=)
c.2199T>C (p.Ser733=)
c.*839T>C (n.*839T>C)
c.*1221T>C (n.*1221T>C)
c.1867T>C
c.*1319T>C (n.*1319T>C)
c.*1053T>C (n.*1053T>C)
c.2288T>C (n.2288T>C)
c.2028T>C (p.Ser676=)
n.6434T>C
c.1293T>C (p.Ser431=)
c.954T>C (p.Ser318=)
c.1836T>C (p.Ser612=)
c.1551T>C (p.Ser517=)
c.993T>C (p.Ser331=)
c.2124T>C (p.Ser708=)
4g.102635004A>TCA440807772MANBAc.2337T>A (p.Ser779=)
c.2199T>A (p.Ser733=)
c.*839T>A (n.*839T>A)
c.*1221T>A (n.*1221T>A)
c.1867T>A
c.*1319T>A (n.*1319T>A)
c.*1053T>A (n.*1053T>A)
c.2288T>A (n.2288T>A)
c.2028T>A (p.Ser676=)
n.6434T>A
c.1293T>A (p.Ser431=)
c.954T>A (p.Ser318=)
c.1836T>A (p.Ser612=)
c.1551T>A (p.Ser517=)
c.993T>A (p.Ser331=)
c.2124T>A (p.Ser708=)
4g.102635004dupCA2671583420MANBAc.2337dup (p.Arg780SerfsTer4)
c.2199dup (p.Arg734SerfsTer4)
c.*839dup (n.*839dup)
c.*1221dup (n.*1221dup)
c.1867dup
c.*1319dup (n.*1319dup)
c.*1053dup (n.*1053dup)
c.2288dup (n.2288dup)
c.2028dup (p.Arg677SerfsTer4)
n.6434dup
c.1293dup (p.Arg432SerfsTer4)
c.954dup (p.Arg319SerfsTer4)
c.1836dup (p.Arg613SerfsTer4)
c.1551dup (p.Arg518SerfsTer4)
c.993dup (p.Arg332SerfsTer4)
c.2124dup (p.Arg709SerfsTer4)
 gnomAD v4
4g.102635005G>ACA357757003MANBAc.2336C>T (p.Ser779Phe)
c.2198C>T (p.Ser733Phe)
c.*838C>T (n.*838C>T)
c.*1220C>T (n.*1220C>T)
c.1866C>T
c.*1318C>T (n.*1318C>T)
c.*1052C>T (n.*1052C>T)
c.2287C>T (n.2287C>T)
c.2027C>T (p.Ser676Phe)
n.6433C>T
c.1292C>T (p.Ser431Phe)
c.953C>T (p.Ser318Phe)
c.1835C>T (p.Ser612Phe)
c.1550C>T (p.Ser517Phe)
c.992C>T (p.Ser331Phe)
c.2123C>T (p.Ser708Phe)
4g.102635005G>CCA357757004MANBAc.2336C>G (p.Ser779Cys)
c.2198C>G (p.Ser733Cys)
c.*838C>G (n.*838C>G)
c.*1220C>G (n.*1220C>G)
c.1866C>G
c.*1318C>G (n.*1318C>G)
c.*1052C>G (n.*1052C>G)
c.2287C>G (n.2287C>G)
c.2027C>G (p.Ser676Cys)
n.6433C>G
c.1292C>G (p.Ser431Cys)
c.953C>G (p.Ser318Cys)
c.1835C>G (p.Ser612Cys)
c.1550C>G (p.Ser517Cys)
c.992C>G (p.Ser331Cys)
c.2123C>G (p.Ser708Cys)
4g.102635005G>TCA357757002MANBAc.2336C>A (p.Ser779Tyr)
c.2198C>A (p.Ser733Tyr)
c.*838C>A (n.*838C>A)
c.*1220C>A (n.*1220C>A)
c.1866C>A
c.*1318C>A (n.*1318C>A)
c.*1052C>A (n.*1052C>A)
c.2287C>A (n.2287C>A)
c.2027C>A (p.Ser676Tyr)
n.6433C>A
c.1292C>A (p.Ser431Tyr)
c.953C>A (p.Ser318Tyr)
c.1835C>A (p.Ser612Tyr)
c.1550C>A (p.Ser517Tyr)
c.992C>A (p.Ser331Tyr)
c.2123C>A (p.Ser708Tyr)
4g.102635006A=CA1481458353MANBAc.2335T= (p.Ser779=)
c.2197T= (p.Ser733=)
c.*837T= (n.*837T=)
c.*1219T= (n.*1219T=)
c.1865T=
c.*1317T= (n.*1317T=)
c.*1051T= (n.*1051T=)
c.2286T= (n.2286T=)
c.2026T= (p.Ser676=)
n.6432T=
c.1291T= (p.Ser431=)
c.952T= (p.Ser318=)
c.1834T= (p.Ser612=)
c.1549T= (p.Ser517=)
c.991T= (p.Ser331=)
c.2122T= (p.Ser708=)
4g.102635006A>CCA357757005MANBAc.2335T>G (p.Ser779Ala)
c.2197T>G (p.Ser733Ala)
c.*837T>G (n.*837T>G)
c.*1219T>G (n.*1219T>G)
c.1865T>G
c.*1317T>G (n.*1317T>G)
c.*1051T>G (n.*1051T>G)
c.2286T>G (n.2286T>G)
c.2026T>G (p.Ser676Ala)
n.6432T>G
c.1291T>G (p.Ser431Ala)
c.952T>G (p.Ser318Ala)
c.1834T>G (p.Ser612Ala)
c.1549T>G (p.Ser517Ala)
c.991T>G (p.Ser331Ala)
c.2122T>G (p.Ser708Ala)
4g.102635006A>GCA3026673MANBAc.2335T>C (p.Ser779Pro)
c.2197T>C (p.Ser733Pro)
c.*837T>C (n.*837T>C)
c.*1219T>C (n.*1219T>C)
c.1865T>C
c.*1317T>C (n.*1317T>C)
c.*1051T>C (n.*1051T>C)
c.2286T>C (n.2286T>C)
c.2026T>C (p.Ser676Pro)
n.6432T>C
c.1291T>C (p.Ser431Pro)
c.952T>C (p.Ser318Pro)
c.1834T>C (p.Ser612Pro)
c.1549T>C (p.Ser517Pro)
c.991T>C (p.Ser331Pro)
c.2122T>C (p.Ser708Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.102635006A>TCA357757006MANBAc.2335T>A (p.Ser779Thr)
c.2197T>A (p.Ser733Thr)
c.*837T>A (n.*837T>A)
c.*1219T>A (n.*1219T>A)
c.1865T>A
c.*1317T>A (n.*1317T>A)
c.*1051T>A (n.*1051T>A)
c.2286T>A (n.2286T>A)
c.2026T>A (p.Ser676Thr)
n.6432T>A
c.1291T>A (p.Ser431Thr)
c.952T>A (p.Ser318Thr)
c.1834T>A (p.Ser612Thr)
c.1549T>A (p.Ser517Thr)
c.991T>A (p.Ser331Thr)
c.2122T>A (p.Ser708Thr)
4g.102635007G>ACA440807775MANBAc.2334C>T (p.Cys778=)
c.2196C>T (p.Cys732=)
c.*836C>T (n.*836C>T)
c.*1218C>T (n.*1218C>T)
c.1864C>T
c.*1316C>T (n.*1316C>T)
c.*1050C>T (n.*1050C>T)
c.2285C>T (n.2285C>T)
c.2025C>T (p.Cys675=)
n.6431C>T
c.1290C>T (p.Cys430=)
c.951C>T (p.Cys317=)
c.1833C>T (p.Cys611=)
c.1548C>T (p.Cys516=)
c.990C>T (p.Cys330=)
c.2121C>T (p.Cys707=)
4g.102635007G>CCA357757007MANBAc.2334C>G (p.Cys778Trp)
c.2196C>G (p.Cys732Trp)
c.*836C>G (n.*836C>G)
c.*1218C>G (n.*1218C>G)
c.1864C>G
c.*1316C>G (n.*1316C>G)
c.*1050C>G (n.*1050C>G)
c.2285C>G (n.2285C>G)
c.2025C>G (p.Cys675Trp)
n.6431C>G
c.1290C>G (p.Cys430Trp)
c.951C>G (p.Cys317Trp)
c.1833C>G (p.Cys611Trp)
c.1548C>G (p.Cys516Trp)
c.990C>G (p.Cys330Trp)
c.2121C>G (p.Cys707Trp)
4g.102635007G>TCA357757008MANBAc.2334C>A (p.Cys778Ter)
c.2196C>A (p.Cys732Ter)
c.*836C>A (n.*836C>A)
c.*1218C>A (n.*1218C>A)
c.1864C>A
c.*1316C>A (n.*1316C>A)
c.*1050C>A (n.*1050C>A)
c.2285C>A (n.2285C>A)
c.2025C>A (p.Cys675Ter)
n.6431C>A
c.1290C>A (p.Cys430Ter)
c.951C>A (p.Cys317Ter)
c.1833C>A (p.Cys611Ter)
c.1548C>A (p.Cys516Ter)
c.990C>A (p.Cys330Ter)
c.2121C>A (p.Cys707Ter)
4g.102635008C>ACA357757011MANBAc.2333G>T (p.Cys778Phe)
c.2195G>T (p.Cys732Phe)
c.*835G>T (n.*835G>T)
c.*1217G>T (n.*1217G>T)
c.1863G>T
c.*1315G>T (n.*1315G>T)
c.*1049G>T (n.*1049G>T)
c.2284G>T (n.2284G>T)
c.2024G>T (p.Cys675Phe)
n.6430G>T
c.1289G>T (p.Cys430Phe)
c.950G>T (p.Cys317Phe)
c.1832G>T (p.Cys611Phe)
c.1547G>T (p.Cys516Phe)
c.989G>T (p.Cys330Phe)
c.2120G>T (p.Cys707Phe)
4g.102635008C=CA1481458354MANBAc.2333G= (p.Cys778=)
c.2195G= (p.Cys732=)
c.*835G= (n.*835G=)
c.*1217G= (n.*1217G=)
c.1863G=
c.*1315G= (n.*1315G=)
c.*1049G= (n.*1049G=)
c.2284G= (n.2284G=)
c.2024G= (p.Cys675=)
n.6430G=
c.1289G= (p.Cys430=)
c.950G= (p.Cys317=)
c.1832G= (p.Cys611=)
c.1547G= (p.Cys516=)
c.989G= (p.Cys330=)
c.2120G= (p.Cys707=)
4g.102635008C>GCA357757009MANBAc.2333G>C (p.Cys778Ser)
c.2195G>C (p.Cys732Ser)
c.*835G>C (n.*835G>C)
c.*1217G>C (n.*1217G>C)
c.1863G>C
c.*1315G>C (n.*1315G>C)
c.*1049G>C (n.*1049G>C)
c.2284G>C (n.2284G>C)
c.2024G>C (p.Cys675Ser)
n.6430G>C
c.1289G>C (p.Cys430Ser)
c.950G>C (p.Cys317Ser)
c.1832G>C (p.Cys611Ser)
c.1547G>C (p.Cys516Ser)
c.989G>C (p.Cys330Ser)
c.2120G>C (p.Cys707Ser)
4g.102635008C>TCA357757010MANBAc.2333G>A (p.Cys778Tyr)
c.2195G>A (p.Cys732Tyr)
c.*835G>A (n.*835G>A)
c.*1217G>A (n.*1217G>A)
c.1863G>A
c.*1315G>A (n.*1315G>A)
c.*1049G>A (n.*1049G>A)
c.2284G>A (n.2284G>A)
c.2024G>A (p.Cys675Tyr)
n.6430G>A
c.1289G>A (p.Cys430Tyr)
c.950G>A (p.Cys317Tyr)
c.1832G>A (p.Cys611Tyr)
c.1547G>A (p.Cys516Tyr)
c.989G>A (p.Cys330Tyr)
c.2120G>A (p.Cys707Tyr)
 dbSNP COSMIC
4g.102635009A>CCA357757012MANBAc.2332T>G (p.Cys778Gly)
c.2194T>G (p.Cys732Gly)
c.*834T>G (n.*834T>G)
c.*1216T>G (n.*1216T>G)
c.1862T>G
c.*1314T>G (n.*1314T>G)
c.*1048T>G (n.*1048T>G)
c.2283T>G (n.2283T>G)
c.2023T>G (p.Cys675Gly)
n.6429T>G
c.1288T>G (p.Cys430Gly)
c.949T>G (p.Cys317Gly)
c.1831T>G (p.Cys611Gly)
c.1546T>G (p.Cys516Gly)
c.988T>G (p.Cys330Gly)
c.2119T>G (p.Cys707Gly)
4g.102635009A>GCA357757013MANBAc.2332T>C (p.Cys778Arg)
c.2194T>C (p.Cys732Arg)
c.*834T>C (n.*834T>C)
c.*1216T>C (n.*1216T>C)
c.1862T>C
c.*1314T>C (n.*1314T>C)
c.*1048T>C (n.*1048T>C)
c.2283T>C (n.2283T>C)
c.2023T>C (p.Cys675Arg)
n.6429T>C
c.1288T>C (p.Cys430Arg)
c.949T>C (p.Cys317Arg)
c.1831T>C (p.Cys611Arg)
c.1546T>C (p.Cys516Arg)
c.988T>C (p.Cys330Arg)
c.2119T>C (p.Cys707Arg)
 gnomAD v4
4g.102635009A>TCA357757014MANBAc.2332T>A (p.Cys778Ser)
c.2194T>A (p.Cys732Ser)
c.*834T>A (n.*834T>A)
c.*1216T>A (n.*1216T>A)
c.1862T>A
c.*1314T>A (n.*1314T>A)
c.*1048T>A (n.*1048T>A)
c.2283T>A (n.2283T>A)
c.2023T>A (p.Cys675Ser)
n.6429T>A
c.1288T>A (p.Cys430Ser)
c.949T>A (p.Cys317Ser)
c.1831T>A (p.Cys611Ser)
c.1546T>A (p.Cys516Ser)
c.988T>A (p.Cys330Ser)
c.2119T>A (p.Cys707Ser)
4g.102635010C>ACA440807776MANBAc.2331G>T (p.Val777=)
c.2193G>T (p.Val731=)
c.*833G>T (n.*833G>T)
c.*1215G>T (n.*1215G>T)
c.1861G>T
c.*1313G>T (n.*1313G>T)
c.*1047G>T (n.*1047G>T)
c.2282G>T (n.2282G>T)
c.2022G>T (p.Val674=)
n.6428G>T
c.1287G>T (p.Val429=)
c.948G>T (p.Val316=)
c.1830G>T (p.Val610=)
c.1545G>T (p.Val515=)
c.987G>T (p.Val329=)
c.2118G>T (p.Val706=)
4g.102635010C=CA1481458355MANBAc.2331G= (p.Val777=)
c.2193G= (p.Val731=)
c.*833G= (n.*833G=)
c.*1215G= (n.*1215G=)
c.1861G=
c.*1313G= (n.*1313G=)
c.*1047G= (n.*1047G=)
c.2282G= (n.2282G=)
c.2022G= (p.Val674=)
n.6428G=
c.1287G= (p.Val429=)
c.948G= (p.Val316=)
c.1830G= (p.Val610=)
c.1545G= (p.Val515=)
c.987G= (p.Val329=)
c.2118G= (p.Val706=)
4g.102635010C>GCA440807778MANBAc.2331G>C (p.Val777=)
c.2193G>C (p.Val731=)
c.*833G>C (n.*833G>C)
c.*1215G>C (n.*1215G>C)
c.1861G>C
c.*1313G>C (n.*1313G>C)
c.*1047G>C (n.*1047G>C)
c.2282G>C (n.2282G>C)
c.2022G>C (p.Val674=)
n.6428G>C
c.1287G>C (p.Val429=)
c.948G>C (p.Val316=)
c.1830G>C (p.Val610=)
c.1545G>C (p.Val515=)
c.987G>C (p.Val329=)
c.2118G>C (p.Val706=)
4g.102635010C>TCA440807777MANBAc.2331G>A (p.Val777=)
c.2193G>A (p.Val731=)
c.*833G>A (n.*833G>A)
c.*1215G>A (n.*1215G>A)
c.1861G>A
c.*1313G>A (n.*1313G>A)
c.*1047G>A (n.*1047G>A)
c.2282G>A (n.2282G>A)
c.2022G>A (p.Val674=)
n.6428G>A
c.1287G>A (p.Val429=)
c.948G>A (p.Val316=)
c.1830G>A (p.Val610=)
c.1545G>A (p.Val515=)
c.987G>A (p.Val329=)
c.2118G>A (p.Val706=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.102635011A>CCA357757015MANBAc.2330T>G (p.Val777Gly)
c.2192T>G (p.Val731Gly)
c.*832T>G (n.*832T>G)
c.*1214T>G (n.*1214T>G)
c.1860T>G
c.*1312T>G (n.*1312T>G)
c.*1046T>G (n.*1046T>G)
c.2281T>G (n.2281T>G)
c.2021T>G (p.Val674Gly)
n.6427T>G
c.1286T>G (p.Val429Gly)
c.947T>G (p.Val316Gly)
c.1829T>G (p.Val610Gly)
c.1544T>G (p.Val515Gly)
c.986T>G (p.Val329Gly)
c.2117T>G (p.Val706Gly)
4g.102635011A>GCA357757016MANBAc.2330T>C (p.Val777Ala)
c.2192T>C (p.Val731Ala)
c.*832T>C (n.*832T>C)
c.*1214T>C (n.*1214T>C)
c.1860T>C
c.*1312T>C (n.*1312T>C)
c.*1046T>C (n.*1046T>C)
c.2281T>C (n.2281T>C)
c.2021T>C (p.Val674Ala)
n.6427T>C
c.1286T>C (p.Val429Ala)
c.947T>C (p.Val316Ala)
c.1829T>C (p.Val610Ala)
c.1544T>C (p.Val515Ala)
c.986T>C (p.Val329Ala)
c.2117T>C (p.Val706Ala)
4g.102635011A>TCA357757017MANBAc.2330T>A (p.Val777Glu)
c.2192T>A (p.Val731Glu)
c.*832T>A (n.*832T>A)
c.*1214T>A (n.*1214T>A)
c.1860T>A
c.*1312T>A (n.*1312T>A)
c.*1046T>A (n.*1046T>A)
c.2281T>A (n.2281T>A)
c.2021T>A (p.Val674Glu)
n.6427T>A
c.1286T>A (p.Val429Glu)
c.947T>A (p.Val316Glu)
c.1829T>A (p.Val610Glu)
c.1544T>A (p.Val515Glu)
c.986T>A (p.Val329Glu)
c.2117T>A (p.Val706Glu)
4g.102635012C>ACA357757019MANBAc.2329G>T (p.Val777Leu)
c.2191G>T (p.Val731Leu)
c.*831G>T (n.*831G>T)
c.*1213G>T (n.*1213G>T)
c.1859G>T
c.*1311G>T (n.*1311G>T)
c.*1045G>T (n.*1045G>T)
c.2280G>T (n.2280G>T)
c.2020G>T (p.Val674Leu)
n.6426G>T
c.1285G>T (p.Val429Leu)
c.946G>T (p.Val316Leu)
c.1828G>T (p.Val610Leu)
c.1543G>T (p.Val515Leu)
c.985G>T (p.Val329Leu)
c.2116G>T (p.Val706Leu)
4g.102635012C=CA1481458356MANBAc.2329G= (p.Val777=)
c.2191G= (p.Val731=)
c.*831G= (n.*831G=)
c.*1213G= (n.*1213G=)
c.1859G=
c.*1311G= (n.*1311G=)
c.*1045G= (n.*1045G=)
c.2280G= (n.2280G=)
c.2020G= (p.Val674=)
n.6426G=
c.1285G= (p.Val429=)
c.946G= (p.Val316=)
c.1828G= (p.Val610=)
c.1543G= (p.Val515=)
c.985G= (p.Val329=)
c.2116G= (p.Val706=)
4g.102635012C>GCA357757018MANBAc.2329G>C (p.Val777Leu)
c.2191G>C (p.Val731Leu)
c.*831G>C (n.*831G>C)
c.*1213G>C (n.*1213G>C)
c.1859G>C
c.*1311G>C (n.*1311G>C)
c.*1045G>C (n.*1045G>C)
c.2280G>C (n.2280G>C)
c.2020G>C (p.Val674Leu)
n.6426G>C
c.1285G>C (p.Val429Leu)
c.946G>C (p.Val316Leu)
c.1828G>C (p.Val610Leu)
c.1543G>C (p.Val515Leu)
c.985G>C (p.Val329Leu)
c.2116G>C (p.Val706Leu)
4g.102635012C>TCA3026674MANBAc.2329G>A (p.Val777Met)
c.2191G>A (p.Val731Met)
c.*831G>A (n.*831G>A)
c.*1213G>A (n.*1213G>A)
c.1859G>A
c.*1311G>A (n.*1311G>A)
c.*1045G>A (n.*1045G>A)
c.2280G>A (n.2280G>A)
c.2020G>A (p.Val674Met)
n.6426G>A
c.1285G>A (p.Val429Met)
c.946G>A (p.Val316Met)
c.1828G>A (p.Val610Met)
c.1543G>A (p.Val515Met)
c.985G>A (p.Val329Met)
c.2116G>A (p.Val706Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.102635013G>ACA3026675MANBAc.2328C>T (p.Pro776=)
c.2190C>T (p.Pro730=)
c.*830C>T (n.*830C>T)
c.*1212C>T (n.*1212C>T)
c.1858C>T
c.*1310C>T (n.*1310C>T)
c.*1044C>T (n.*1044C>T)
c.2279C>T (n.2279C>T)
c.2019C>T (p.Pro673=)
n.6425C>T
c.1284C>T (p.Pro428=)
c.945C>T (p.Pro315=)
c.1827C>T (p.Pro609=)
c.1542C>T (p.Pro514=)
c.984C>T (p.Pro328=)
c.2115C>T (p.Pro705=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.102635013G>CCA440807780MANBAc.2328C>G (p.Pro776=)
c.2190C>G (p.Pro730=)
c.*830C>G (n.*830C>G)
c.*1212C>G (n.*1212C>G)
c.1858C>G
c.*1310C>G (n.*1310C>G)
c.*1044C>G (n.*1044C>G)
c.2279C>G (n.2279C>G)
c.2019C>G (p.Pro673=)
n.6425C>G
c.1284C>G (p.Pro428=)
c.945C>G (p.Pro315=)
c.1827C>G (p.Pro609=)
c.1542C>G (p.Pro514=)
c.984C>G (p.Pro328=)
c.2115C>G (p.Pro705=)
 dbSNP gnomAD v2 gnomAD v4
4g.102635013G=CA1481458357MANBAc.2328C= (p.Pro776=)
c.2190C= (p.Pro730=)
c.*830C= (n.*830C=)
c.*1212C= (n.*1212C=)
c.1858C=
c.*1310C= (n.*1310C=)
c.*1044C= (n.*1044C=)
c.2279C= (n.2279C=)
c.2019C= (p.Pro673=)
n.6425C=
c.1284C= (p.Pro428=)
c.945C= (p.Pro315=)
c.1827C= (p.Pro609=)
c.1542C= (p.Pro514=)
c.984C= (p.Pro328=)
c.2115C= (p.Pro705=)
4g.102635013G>TCA440807779MANBAc.2328C>A (p.Pro776=)
c.2190C>A (p.Pro730=)
c.*830C>A (n.*830C>A)
c.*1212C>A (n.*1212C>A)
c.1858C>A
c.*1310C>A (n.*1310C>A)
c.*1044C>A (n.*1044C>A)
c.2279C>A (n.2279C>A)
c.2019C>A (p.Pro673=)
n.6425C>A
c.1284C>A (p.Pro428=)
c.945C>A (p.Pro315=)
c.1827C>A (p.Pro609=)
c.1542C>A (p.Pro514=)
c.984C>A (p.Pro328=)
c.2115C>A (p.Pro705=)
4g.102635014G>ACA357757020MANBAc.2327C>T (p.Pro776Leu)
c.2189C>T (p.Pro730Leu)
c.*829C>T (n.*829C>T)
c.*1211C>T (n.*1211C>T)
c.1857C>T
c.*1309C>T (n.*1309C>T)
c.*1043C>T (n.*1043C>T)
c.2278C>T (n.2278C>T)
c.2018C>T (p.Pro673Leu)
n.6424C>T
c.1283C>T (p.Pro428Leu)
c.944C>T (p.Pro315Leu)
c.1826C>T (p.Pro609Leu)
c.1541C>T (p.Pro514Leu)
c.983C>T (p.Pro328Leu)
c.2114C>T (p.Pro705Leu)
 gnomAD v4
4g.102635014G>CCA357757022MANBAc.2327C>G (p.Pro776Arg)
c.2189C>G (p.Pro730Arg)
c.*829C>G (n.*829C>G)
c.*1211C>G (n.*1211C>G)
c.1857C>G
c.*1309C>G (n.*1309C>G)
c.*1043C>G (n.*1043C>G)
c.2278C>G (n.2278C>G)
c.2018C>G (p.Pro673Arg)
n.6424C>G
c.1283C>G (p.Pro428Arg)
c.944C>G (p.Pro315Arg)
c.1826C>G (p.Pro609Arg)
c.1541C>G (p.Pro514Arg)
c.983C>G (p.Pro328Arg)
c.2114C>G (p.Pro705Arg)
 ClinVar dbSNP
4g.102635014G=CA1481458358MANBAc.2327C= (p.Pro776=)
c.2189C= (p.Pro730=)
c.*829C= (n.*829C=)
c.*1211C= (n.*1211C=)
c.1857C=
c.*1309C= (n.*1309C=)
c.*1043C= (n.*1043C=)
c.2278C= (n.2278C=)
c.2018C= (p.Pro673=)
n.6424C=
c.1283C= (p.Pro428=)
c.944C= (p.Pro315=)
c.1826C= (p.Pro609=)
c.1541C= (p.Pro514=)
c.983C= (p.Pro328=)
c.2114C= (p.Pro705=)
4g.102635014G>TCA357757021MANBAc.2327C>A (p.Pro776His)
c.2189C>A (p.Pro730His)
c.*829C>A (n.*829C>A)
c.*1211C>A (n.*1211C>A)
c.1857C>A
c.*1309C>A (n.*1309C>A)
c.*1043C>A (n.*1043C>A)
c.2278C>A (n.2278C>A)
c.2018C>A (p.Pro673His)
n.6424C>A
c.1283C>A (p.Pro428His)
c.944C>A (p.Pro315His)
c.1826C>A (p.Pro609His)
c.1541C>A (p.Pro514His)
c.983C>A (p.Pro328His)
c.2114C>A (p.Pro705His)
4g.102635014_102635019delCA2671583421MANBAc.2322_2327del (p.Glu775_Pro776del)
c.2184_2189del (p.Glu729_Pro730del)
c.*824_*829del (n.*824_*829del)
c.*1206_*1211del (n.*1206_*1211del)
c.1852_1857del
c.*1304_*1309del (n.*1304_*1309del)
c.*1038_*1043del (n.*1038_*1043del)
c.2273_2278del (n.2273_2278del)
c.2013_2018del (p.Glu672_Pro673del)
n.6419_6424del
c.1278_1283del (p.Glu427_Pro428del)
c.939_944del (p.Glu314_Pro315del)
c.1821_1826del (p.Glu608_Pro609del)
c.1536_1541del (p.Glu513_Pro514del)
c.978_983del (p.Glu327_Pro328del)
c.2109_2114del (p.Glu704_Pro705del)
 gnomAD v4
4g.102635015G>ACA357757023MANBAc.2326C>T (p.Pro776Ser)
c.2188C>T (p.Pro730Ser)
c.*828C>T (n.*828C>T)
c.*1210C>T (n.*1210C>T)
c.1856C>T
c.*1308C>T (n.*1308C>T)
c.*1042C>T (n.*1042C>T)
c.2277C>T (n.2277C>T)
c.2017C>T (p.Pro673Ser)
n.6423C>T
c.1282C>T (p.Pro428Ser)
c.943C>T (p.Pro315Ser)
c.1825C>T (p.Pro609Ser)
c.1540C>T (p.Pro514Ser)
c.982C>T (p.Pro328Ser)
c.2113C>T (p.Pro705Ser)
4g.102635015G>CCA357757025MANBAc.2326C>G (p.Pro776Ala)
c.2188C>G (p.Pro730Ala)
c.*828C>G (n.*828C>G)
c.*1210C>G (n.*1210C>G)
c.1856C>G
c.*1308C>G (n.*1308C>G)
c.*1042C>G (n.*1042C>G)
c.2277C>G (n.2277C>G)
c.2017C>G (p.Pro673Ala)
n.6423C>G
c.1282C>G (p.Pro428Ala)
c.943C>G (p.Pro315Ala)
c.1825C>G (p.Pro609Ala)
c.1540C>G (p.Pro514Ala)
c.982C>G (p.Pro328Ala)
c.2113C>G (p.Pro705Ala)
4g.102635015G>TCA357757024MANBAc.2326C>A (p.Pro776Thr)
c.2188C>A (p.Pro730Thr)
c.*828C>A (n.*828C>A)
c.*1210C>A (n.*1210C>A)
c.1856C>A
c.*1308C>A (n.*1308C>A)
c.*1042C>A (n.*1042C>A)
c.2277C>A (n.2277C>A)
c.2017C>A (p.Pro673Thr)
n.6423C>A
c.1282C>A (p.Pro428Thr)
c.943C>A (p.Pro315Thr)
c.1825C>A (p.Pro609Thr)
c.1540C>A (p.Pro514Thr)
c.982C>A (p.Pro328Thr)
c.2113C>A (p.Pro705Thr)
4g.102635015_102635016insAAAGCTGTGTGGTTTCCTTTTACCA2762883449MANBAc.2325_2326insGTAAAAGGAAACCACACAGCTTT (p.Pro776ValfsTer14)
c.2187_2188insGTAAAAGGAAACCACACAGCTTT (p.Pro730ValfsTer14)
c.*827_*828insGTAAAAGGAAACCACACAGCTTT (n.*827_*828insGTAAAAGGAAACCACACAGCTTT)
c.*1209_*1210insGTAAAAGGAAACCACACAGCTTT (n.*1209_*1210insGTAAAAGGAAACCACACAGCTTT)
c.1855_1856insGTAAAAGGAAACCACACAGCTTT
c.*1307_*1308insGTAAAAGGAAACCACACAGCTTT (n.*1307_*1308insGTAAAAGGAAACCACACAGCTTT)
c.*1041_*1042insGTAAAAGGAAACCACACAGCTTT (n.*1041_*1042insGTAAAAGGAAACCACACAGCTTT)
c.2276_2277insGTAAAAGGAAACCACACAGCTTT (n.2276_2277insGTAAAAGGAAACCACACAGCTTT)
c.2016_2017insGTAAAAGGAAACCACACAGCTTT (p.Pro673ValfsTer14)
n.6422_6423insGTAAAAGGAAACCACACAGCTTT
c.1281_1282insGTAAAAGGAAACCACACAGCTTT (p.Pro428ValfsTer14)
c.942_943insGTAAAAGGAAACCACACAGCTTT (p.Pro315ValfsTer14)
c.1824_1825insGTAAAAGGAAACCACACAGCTTT (p.Pro609ValfsTer14)
c.1539_1540insGTAAAAGGAAACCACACAGCTTT (p.Pro514ValfsTer14)
c.981_982insGTAAAAGGAAACCACACAGCTTT (p.Pro328ValfsTer14)
c.2112_2113insGTAAAAGGAAACCACACAGCTTT (p.Pro705ValfsTer14)
4g.102635016C>ACA357757026MANBAc.2325G>T (p.Glu775Asp)
c.2187G>T (p.Glu729Asp)
c.*827G>T (n.*827G>T)
c.*1209G>T (n.*1209G>T)
c.1855G>T
c.*1307G>T (n.*1307G>T)
c.*1041G>T (n.*1041G>T)
c.2276G>T (n.2276G>T)
c.2016G>T (p.Glu672Asp)
n.6422G>T
c.1281G>T (p.Glu427Asp)
c.942G>T (p.Glu314Asp)
c.1824G>T (p.Glu608Asp)
c.1539G>T (p.Glu513Asp)
c.981G>T (p.Glu327Asp)
c.2112G>T (p.Glu704Asp)
4g.102635016C=CA1481458359MANBAc.2325G= (p.Glu775=)
c.2187G= (p.Glu729=)
c.*827G= (n.*827G=)
c.*1209G= (n.*1209G=)
c.1855G=
c.*1307G= (n.*1307G=)
c.*1041G= (n.*1041G=)
c.2276G= (n.2276G=)
c.2016G= (p.Glu672=)
n.6422G=
c.1281G= (p.Glu427=)
c.942G= (p.Glu314=)
c.1824G= (p.Glu608=)
c.1539G= (p.Glu513=)
c.981G= (p.Glu327=)
c.2112G= (p.Glu704=)
4g.102635016C>GCA357757027MANBAc.2325G>C (p.Glu775Asp)
c.2187G>C (p.Glu729Asp)
c.*827G>C (n.*827G>C)
c.*1209G>C (n.*1209G>C)
c.1855G>C
c.*1307G>C (n.*1307G>C)
c.*1041G>C (n.*1041G>C)
c.2276G>C (n.2276G>C)
c.2016G>C (p.Glu672Asp)
n.6422G>C
c.1281G>C (p.Glu427Asp)
c.942G>C (p.Glu314Asp)
c.1824G>C (p.Glu608Asp)
c.1539G>C (p.Glu513Asp)
c.981G>C (p.Glu327Asp)
c.2112G>C (p.Glu704Asp)
4g.102635016C>TCA440807781MANBAc.2325G>A (p.Glu775=)
c.2187G>A (p.Glu729=)
c.*827G>A (n.*827G>A)
c.*1209G>A (n.*1209G>A)
c.1855G>A
c.*1307G>A (n.*1307G>A)
c.*1041G>A (n.*1041G>A)
c.2276G>A (n.2276G>A)
c.2016G>A (p.Glu672=)
n.6422G>A
c.1281G>A (p.Glu427=)
c.942G>A (p.Glu314=)
c.1824G>A (p.Glu608=)
c.1539G>A (p.Glu513=)
c.981G>A (p.Glu327=)
c.2112G>A (p.Glu704=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.102635017T>ACA357757028MANBAc.2324A>T (p.Glu775Val)
c.2186A>T (p.Glu729Val)
c.*826A>T (n.*826A>T)
c.*1208A>T (n.*1208A>T)
c.1854A>T
c.*1306A>T (n.*1306A>T)
c.*1040A>T (n.*1040A>T)
c.2275A>T (n.2275A>T)
c.2015A>T (p.Glu672Val)
n.6421A>T
c.1280A>T (p.Glu427Val)
c.941A>T (p.Glu314Val)
c.1823A>T (p.Glu608Val)
c.1538A>T (p.Glu513Val)
c.980A>T (p.Glu327Val)
c.2111A>T (p.Glu704Val)
4g.102635017T>CCA102712326MANBAc.2324A>G (p.Glu775Gly)
c.2186A>G (p.Glu729Gly)
c.*826A>G (n.*826A>G)
c.*1208A>G (n.*1208A>G)
c.1854A>G
c.*1306A>G (n.*1306A>G)
c.*1040A>G (n.*1040A>G)
c.2275A>G (n.2275A>G)
c.2015A>G (p.Glu672Gly)
n.6421A>G
c.1280A>G (p.Glu427Gly)
c.941A>G (p.Glu314Gly)
c.1823A>G (p.Glu608Gly)
c.1538A>G (p.Glu513Gly)
c.980A>G (p.Glu327Gly)
c.2111A>G (p.Glu704Gly)
 dbSNP gnomAD v4
4g.102635017T>GCA357757029MANBAc.2324A>C (p.Glu775Ala)
c.2186A>C (p.Glu729Ala)
c.*826A>C (n.*826A>C)
c.*1208A>C (n.*1208A>C)
c.1854A>C
c.*1306A>C (n.*1306A>C)
c.*1040A>C (n.*1040A>C)
c.2275A>C (n.2275A>C)
c.2015A>C (p.Glu672Ala)
n.6421A>C
c.1280A>C (p.Glu427Ala)
c.941A>C (p.Glu314Ala)
c.1823A>C (p.Glu608Ala)
c.1538A>C (p.Glu513Ala)
c.980A>C (p.Glu327Ala)
c.2111A>C (p.Glu704Ala)
4g.102635017T=CA1481458360MANBAc.2324A= (p.Glu775=)
c.2186A= (p.Glu729=)
c.*826A= (n.*826A=)
c.*1208A= (n.*1208A=)
c.1854A=
c.*1306A= (n.*1306A=)
c.*1040A= (n.*1040A=)
c.2275A= (n.2275A=)
c.2015A= (p.Glu672=)
n.6421A=
c.1280A= (p.Glu427=)
c.941A= (p.Glu314=)
c.1823A= (p.Glu608=)
c.1538A= (p.Glu513=)
c.980A= (p.Glu327=)
c.2111A= (p.Glu704=)
4g.102635018C>ACA357757030MANBAc.2323G>T (p.Glu775Ter)
c.2185G>T (p.Glu729Ter)
c.*825G>T (n.*825G>T)
c.*1207G>T (n.*1207G>T)
c.1853G>T
c.*1305G>T (n.*1305G>T)
c.*1039G>T (n.*1039G>T)
c.2274G>T (n.2274G>T)
c.2014G>T (p.Glu672Ter)
n.6420G>T
c.1279G>T (p.Glu427Ter)
c.940G>T (p.Glu314Ter)
c.1822G>T (p.Glu608Ter)
c.1537G>T (p.Glu513Ter)
c.979G>T (p.Glu327Ter)
c.2110G>T (p.Glu704Ter)
4g.102635018C=CA1481458361MANBAc.2323G= (p.Glu775=)
c.2185G= (p.Glu729=)
c.*825G= (n.*825G=)
c.*1207G= (n.*1207G=)
c.1853G=
c.*1305G= (n.*1305G=)
c.*1039G= (n.*1039G=)
c.2274G= (n.2274G=)
c.2014G= (p.Glu672=)
n.6420G=
c.1279G= (p.Glu427=)
c.940G= (p.Glu314=)
c.1822G= (p.Glu608=)
c.1537G= (p.Glu513=)
c.979G= (p.Glu327=)
c.2110G= (p.Glu704=)
4g.102635018C>GCA357757031MANBAc.2323G>C (p.Glu775Gln)
c.2185G>C (p.Glu729Gln)
c.*825G>C (n.*825G>C)
c.*1207G>C (n.*1207G>C)
c.1853G>C
c.*1305G>C (n.*1305G>C)
c.*1039G>C (n.*1039G>C)
c.2274G>C (n.2274G>C)
c.2014G>C (p.Glu672Gln)
n.6420G>C
c.1279G>C (p.Glu427Gln)
c.940G>C (p.Glu314Gln)
c.1822G>C (p.Glu608Gln)
c.1537G>C (p.Glu513Gln)
c.979G>C (p.Glu327Gln)
c.2110G>C (p.Glu704Gln)
4g.102635018C>TCA357757032MANBAc.2323G>A (p.Glu775Lys)
c.2185G>A (p.Glu729Lys)
c.*825G>A (n.*825G>A)
c.*1207G>A (n.*1207G>A)
c.1853G>A
c.*1305G>A (n.*1305G>A)
c.*1039G>A (n.*1039G>A)
c.2274G>A (n.2274G>A)
c.2014G>A (p.Glu672Lys)
n.6420G>A
c.1279G>A (p.Glu427Lys)
c.940G>A (p.Glu314Lys)
c.1822G>A (p.Glu608Lys)
c.1537G>A (p.Glu513Lys)
c.979G>A (p.Glu327Lys)
c.2110G>A (p.Glu704Lys)
 dbSNP gnomAD v2 gnomAD v4
4g.102635019C>ACA440807782MANBAc.2322G>T (p.Leu774=)
c.2184G>T (p.Leu728=)
c.*824G>T (n.*824G>T)
c.*1206G>T (n.*1206G>T)
c.1852G>T
c.*1304G>T (n.*1304G>T)
c.*1038G>T (n.*1038G>T)
c.2273G>T (n.2273G>T)
c.2013G>T (p.Leu671=)
n.6419G>T
c.1278G>T (p.Leu426=)
c.939G>T (p.Leu313=)
c.1821G>T (p.Leu607=)
c.1536G>T (p.Leu512=)
c.978G>T (p.Leu326=)
c.2109G>T (p.Leu703=)
4g.102635019C>GCA440807783MANBAc.2322G>C (p.Leu774=)
c.2184G>C (p.Leu728=)
c.*824G>C (n.*824G>C)
c.*1206G>C (n.*1206G>C)
c.1852G>C
c.*1304G>C (n.*1304G>C)
c.*1038G>C (n.*1038G>C)
c.2273G>C (n.2273G>C)
c.2013G>C (p.Leu671=)
n.6419G>C
c.1278G>C (p.Leu426=)
c.939G>C (p.Leu313=)
c.1821G>C (p.Leu607=)
c.1536G>C (p.Leu512=)
c.978G>C (p.Leu326=)
c.2109G>C (p.Leu703=)
4g.102635019C>TCA440807784MANBAc.2322G>A (p.Leu774=)
c.2184G>A (p.Leu728=)
c.*824G>A (n.*824G>A)
c.*1206G>A (n.*1206G>A)
c.1852G>A
c.*1304G>A (n.*1304G>A)
c.*1038G>A (n.*1038G>A)
c.2273G>A (n.2273G>A)
c.2013G>A (p.Leu671=)
n.6419G>A
c.1278G>A (p.Leu426=)
c.939G>A (p.Leu313=)
c.1821G>A (p.Leu607=)
c.1536G>A (p.Leu512=)
c.978G>A (p.Leu326=)
c.2109G>A (p.Leu703=)
4g.102635020A>CCA357757033MANBAc.2321T>G (p.Leu774Arg)
c.2183T>G (p.Leu728Arg)
c.*823T>G (n.*823T>G)
c.*1205T>G (n.*1205T>G)
c.1851T>G
c.*1303T>G (n.*1303T>G)
c.*1037T>G (n.*1037T>G)
c.2272T>G (n.2272T>G)
c.2012T>G (p.Leu671Arg)
n.6418T>G
c.1277T>G (p.Leu426Arg)
c.938T>G (p.Leu313Arg)
c.1820T>G (p.Leu607Arg)
c.1535T>G (p.Leu512Arg)
c.977T>G (p.Leu326Arg)
c.2108T>G (p.Leu703Arg)
4g.102635020A>GCA357757034MANBAc.2321T>C (p.Leu774Pro)
c.2183T>C (p.Leu728Pro)
c.*823T>C (n.*823T>C)
c.*1205T>C (n.*1205T>C)
c.1851T>C
c.*1303T>C (n.*1303T>C)
c.*1037T>C (n.*1037T>C)
c.2272T>C (n.2272T>C)
c.2012T>C (p.Leu671Pro)
n.6418T>C
c.1277T>C (p.Leu426Pro)
c.938T>C (p.Leu313Pro)
c.1820T>C (p.Leu607Pro)
c.1535T>C (p.Leu512Pro)
c.977T>C (p.Leu326Pro)
c.2108T>C (p.Leu703Pro)
4g.102635020A>TCA357757035MANBAc.2321T>A (p.Leu774Gln)
c.2183T>A (p.Leu728Gln)
c.*823T>A (n.*823T>A)
c.*1205T>A (n.*1205T>A)
c.1851T>A
c.*1303T>A (n.*1303T>A)
c.*1037T>A (n.*1037T>A)
c.2272T>A (n.2272T>A)
c.2012T>A (p.Leu671Gln)
n.6418T>A
c.1277T>A (p.Leu426Gln)
c.938T>A (p.Leu313Gln)
c.1820T>A (p.Leu607Gln)
c.1535T>A (p.Leu512Gln)
c.977T>A (p.Leu326Gln)
c.2108T>A (p.Leu703Gln)
4g.102635021G>ACA440807785MANBAc.2320C>T (p.Leu774=)
c.2182C>T (p.Leu728=)
c.*822C>T (n.*822C>T)
c.*1204C>T (n.*1204C>T)
c.1850C>T
c.*1302C>T (n.*1302C>T)
c.*1036C>T (n.*1036C>T)
c.2271C>T (n.2271C>T)
c.2011C>T (p.Leu671=)
n.6417C>T
c.1276C>T (p.Leu426=)
c.937C>T (p.Leu313=)
c.1819C>T (p.Leu607=)
c.1534C>T (p.Leu512=)
c.976C>T (p.Leu326=)
c.2107C>T (p.Leu703=)
 gnomAD v4
4g.102635021G>CCA357757036MANBAc.2320C>G (p.Leu774Val)
c.2182C>G (p.Leu728Val)
c.*822C>G (n.*822C>G)
c.*1204C>G (n.*1204C>G)
c.1850C>G
c.*1302C>G (n.*1302C>G)
c.*1036C>G (n.*1036C>G)
c.2271C>G (n.2271C>G)
c.2011C>G (p.Leu671Val)
n.6417C>G
c.1276C>G (p.Leu426Val)
c.937C>G (p.Leu313Val)
c.1819C>G (p.Leu607Val)
c.1534C>G (p.Leu512Val)
c.976C>G (p.Leu326Val)
c.2107C>G (p.Leu703Val)
4g.102635021G>TCA357757037MANBAc.2320C>A (p.Leu774Met)
c.2182C>A (p.Leu728Met)
c.*822C>A (n.*822C>A)
c.*1204C>A (n.*1204C>A)
c.1850C>A
c.*1302C>A (n.*1302C>A)
c.*1036C>A (n.*1036C>A)
c.2271C>A (n.2271C>A)
c.2011C>A (p.Leu671Met)
n.6417C>A
c.1276C>A (p.Leu426Met)
c.937C>A (p.Leu313Met)
c.1819C>A (p.Leu607Met)
c.1534C>A (p.Leu512Met)
c.976C>A (p.Leu326Met)
c.2107C>A (p.Leu703Met)
4g.102635022_102635023delCA2671583424MANBAc.2319_2320del (p.Leu774GlyfsTer9)
c.2181_2182del (p.Leu728GlyfsTer9)
c.*821_*822del (n.*821_*822del)
c.*1203_*1204del (n.*1203_*1204del)
c.1849_1850del
c.*1301_*1302del (n.*1301_*1302del)
c.*1035_*1036del (n.*1035_*1036del)
c.2270_2271del (n.2270_2271del)
c.2010_2011del (p.Leu671GlyfsTer9)
n.6416_6417del
c.1275_1276del (p.Leu426GlyfsTer9)
c.936_937del (p.Leu313GlyfsTer9)
c.1818_1819del (p.Leu607GlyfsTer9)
c.1533_1534del (p.Leu512GlyfsTer9)
c.975_976del (p.Leu326GlyfsTer9)
c.2106_2107del (p.Leu703GlyfsTer9)
 gnomAD v4

Number of alleles fetched