Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.32611221_32611222delinsGA | CA2026267802 | FGD4 | c.1276_1277delinsGA (p.Glu426=) c.1531_1532delinsGA (p.Glu511=) c.997_998delinsGA (p.Glu333=) c.88_89delinsGA (p.Glu30=) n.783_784delinsGA c.1687_1688delinsGA (p.Glu563=) c.*668_*669delinsGA (n.*668_*669delinsGA) c.*687_*688delinsGA (n.*687_*688delinsGA) c.865_866delinsGA c.1612_1613delinsGA (p.Glu538=) c.*645_*646delinsGA (n.*645_*646delinsGA) c.532_533delinsGA (p.Glu178=) c.244_245delinsGA (p.Glu82=) c.1768_1769delinsGA (p.Glu590=) c.1570_1571delinsGA (p.Glu524=) c.724_725delinsGA (p.Glu242=) c.679_680delinsGA (p.Glu227=) c.511_512delinsGA (p.Glu171=) c.385_386delinsGA (p.Glu129=) n.1977_1978delinsGA | |
12 | g.32611222A= | CA2026267803 | FGD4 | c.1277A= (p.Glu426=) c.1532A= (p.Glu511=) c.998A= (p.Glu333=) c.89A= (p.Glu30=) n.784A= c.1688A= (p.Glu563=) c.*669A= (n.*669A=) c.*688A= (n.*688A=) c.866A= c.1613A= (p.Glu538=) c.*646A= (n.*646A=) c.533A= (p.Glu178=) c.245A= (p.Glu82=) c.1769A= (p.Glu590=) c.1571A= (p.Glu524=) c.725A= (p.Glu242=) c.680A= (p.Glu227=) c.512A= (p.Glu171=) c.386A= (p.Glu129=) n.1978A= | |
12 | g.32611222A>C | CA384361130 | FGD4 | c.1277A>C (p.Glu426Ala) c.1532A>C (p.Glu511Ala) c.998A>C (p.Glu333Ala) c.89A>C (p.Glu30Ala) n.784A>C c.1688A>C (p.Glu563Ala) c.*669A>C (n.*669A>C) c.*688A>C (n.*688A>C) c.866A>C c.1613A>C (p.Glu538Ala) c.*646A>C (n.*646A>C) c.533A>C (p.Glu178Ala) c.245A>C (p.Glu82Ala) c.1769A>C (p.Glu590Ala) c.1571A>C (p.Glu524Ala) c.725A>C (p.Glu242Ala) c.680A>C (p.Glu227Ala) c.512A>C (p.Glu171Ala) c.386A>C (p.Glu129Ala) n.1978A>C | |
12 | g.32611222A>G | CA384361131 | FGD4 | c.1277A>G (p.Glu426Gly) c.1532A>G (p.Glu511Gly) c.998A>G (p.Glu333Gly) c.89A>G (p.Glu30Gly) n.784A>G c.1688A>G (p.Glu563Gly) c.*669A>G (n.*669A>G) c.*688A>G (n.*688A>G) c.866A>G c.1613A>G (p.Glu538Gly) c.*646A>G (n.*646A>G) c.533A>G (p.Glu178Gly) c.245A>G (p.Glu82Gly) c.1769A>G (p.Glu590Gly) c.1571A>G (p.Glu524Gly) c.725A>G (p.Glu242Gly) c.680A>G (p.Glu227Gly) c.512A>G (p.Glu171Gly) c.386A>G (p.Glu129Gly) n.1978A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.32611222A>T | CA384361132 | FGD4 | c.1277A>T (p.Glu426Val) c.1532A>T (p.Glu511Val) c.998A>T (p.Glu333Val) c.89A>T (p.Glu30Val) n.784A>T c.1688A>T (p.Glu563Val) c.*669A>T (n.*669A>T) c.*688A>T (n.*688A>T) c.866A>T c.1613A>T (p.Glu538Val) c.*646A>T (n.*646A>T) c.533A>T (p.Glu178Val) c.245A>T (p.Glu82Val) c.1769A>T (p.Glu590Val) c.1571A>T (p.Glu524Val) c.725A>T (p.Glu242Val) c.680A>T (p.Glu227Val) c.512A>T (p.Glu171Val) c.386A>T (p.Glu129Val) n.1978A>T | |
12 | g.32611223del | CA6506856 | FGD4 | c.1278del (p.Gly427AspfsTer6) c.1533del (p.Gly512AspfsTer6) c.999del (p.Gly334AspfsTer6) c.90del (p.Gly31AspfsTer6) n.785del c.1689del (p.Gly564AspfsTer6) c.*670del (n.*670del) c.*689del (n.*689del) c.867del c.1614del (p.Gly539AspfsTer6) c.*647del (n.*647del) c.534del (p.Gly179AspfsTer6) c.246del (p.Gly83AspfsTer6) c.1770del (p.Gly591AspfsTer6) c.1572del (p.Gly525AspfsTer6) c.726del (p.Gly243AspfsTer6) c.681del (p.Gly228AspfsTer6) c.513del (p.Gly172AspfsTer6) c.387del (p.Gly130AspfsTer6) n.1979del | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.32611223A= | CA2026267804 | FGD4 | c.1278A= (p.Glu426=) c.1533A= (p.Glu511=) c.999A= (p.Glu333=) c.90A= (p.Glu30=) n.785A= c.1689A= (p.Glu563=) c.*670A= (n.*670A=) c.*689A= (n.*689A=) c.867A= c.1614A= (p.Glu538=) c.*647A= (n.*647A=) c.534A= (p.Glu178=) c.246A= (p.Glu82=) c.1770A= (p.Glu590=) c.1572A= (p.Glu524=) c.726A= (p.Glu242=) c.681A= (p.Glu227=) c.513A= (p.Glu171=) c.387A= (p.Glu129=) n.1979A= | |
12 | g.32611223A>C | CA10584432 | FGD4 | c.1278A>C (p.Glu426Asp) c.1533A>C (p.Glu511Asp) c.999A>C (p.Glu333Asp) c.90A>C (p.Glu30Asp) n.785A>C c.1689A>C (p.Glu563Asp) c.*670A>C (n.*670A>C) c.*689A>C (n.*689A>C) c.867A>C c.1614A>C (p.Glu538Asp) c.*647A>C (n.*647A>C) c.534A>C (p.Glu178Asp) c.246A>C (p.Glu82Asp) c.1770A>C (p.Glu590Asp) c.1572A>C (p.Glu524Asp) c.726A>C (p.Glu242Asp) c.681A>C (p.Glu227Asp) c.513A>C (p.Glu171Asp) c.387A>C (p.Glu129Asp) n.1979A>C | ClinVar dbSNP |
12 | g.32611223A>G | CA479167868 | FGD4 | c.1278A>G (p.Glu426=) c.1533A>G (p.Glu511=) c.999A>G (p.Glu333=) c.90A>G (p.Glu30=) n.785A>G c.1689A>G (p.Glu563=) c.*670A>G (n.*670A>G) c.*689A>G (n.*689A>G) c.867A>G c.1614A>G (p.Glu538=) c.*647A>G (n.*647A>G) c.534A>G (p.Glu178=) c.246A>G (p.Glu82=) c.1770A>G (p.Glu590=) c.1572A>G (p.Glu524=) c.726A>G (p.Glu242=) c.681A>G (p.Glu227=) c.513A>G (p.Glu171=) c.387A>G (p.Glu129=) n.1979A>G | dbSNP gnomAD v4 |
12 | g.32611223A>T | CA384361133 | FGD4 | c.1278A>T (p.Glu426Asp) c.1533A>T (p.Glu511Asp) c.999A>T (p.Glu333Asp) c.90A>T (p.Glu30Asp) n.785A>T c.1689A>T (p.Glu563Asp) c.*670A>T (n.*670A>T) c.*689A>T (n.*689A>T) c.867A>T c.1614A>T (p.Glu538Asp) c.*647A>T (n.*647A>T) c.534A>T (p.Glu178Asp) c.246A>T (p.Glu82Asp) c.1770A>T (p.Glu590Asp) c.1572A>T (p.Glu524Asp) c.726A>T (p.Glu242Asp) c.681A>T (p.Glu227Asp) c.513A>T (p.Glu171Asp) c.387A>T (p.Glu129Asp) n.1979A>T | |
12 | g.32611224G>A | CA384361134 | FGD4 | c.1279G>A (p.Gly427Arg) c.1534G>A (p.Gly512Arg) c.1000G>A (p.Gly334Arg) c.91G>A (p.Gly31Arg) n.786G>A c.1690G>A (p.Gly564Arg) c.*671G>A (n.*671G>A) c.*690G>A (n.*690G>A) c.868G>A c.1615G>A (p.Gly539Arg) c.*648G>A (n.*648G>A) c.535G>A (p.Gly179Arg) c.247G>A (p.Gly83Arg) c.1771G>A (p.Gly591Arg) c.1573G>A (p.Gly525Arg) c.727G>A (p.Gly243Arg) c.682G>A (p.Gly228Arg) c.514G>A (p.Gly172Arg) c.388G>A (p.Gly130Arg) n.1980G>A | |
12 | g.32611224G>C | CA384361135 | FGD4 | c.1279G>C (p.Gly427Arg) c.1534G>C (p.Gly512Arg) c.1000G>C (p.Gly334Arg) c.91G>C (p.Gly31Arg) n.786G>C c.1690G>C (p.Gly564Arg) c.*671G>C (n.*671G>C) c.*690G>C (n.*690G>C) c.868G>C c.1615G>C (p.Gly539Arg) c.*648G>C (n.*648G>C) c.535G>C (p.Gly179Arg) c.247G>C (p.Gly83Arg) c.1771G>C (p.Gly591Arg) c.1573G>C (p.Gly525Arg) c.727G>C (p.Gly243Arg) c.682G>C (p.Gly228Arg) c.514G>C (p.Gly172Arg) c.388G>C (p.Gly130Arg) n.1980G>C | |
12 | g.32611224G>T | CA384361136 | FGD4 | c.1279G>T (p.Gly427Ter) c.1534G>T (p.Gly512Ter) c.1000G>T (p.Gly334Ter) c.91G>T (p.Gly31Ter) n.786G>T c.1690G>T (p.Gly564Ter) c.*671G>T (n.*671G>T) c.*690G>T (n.*690G>T) c.868G>T c.1615G>T (p.Gly539Ter) c.*648G>T (n.*648G>T) c.535G>T (p.Gly179Ter) c.247G>T (p.Gly83Ter) c.1771G>T (p.Gly591Ter) c.1573G>T (p.Gly525Ter) c.727G>T (p.Gly243Ter) c.682G>T (p.Gly228Ter) c.514G>T (p.Gly172Ter) c.388G>T (p.Gly130Ter) n.1980G>T | |
12 | g.32611225G>A | CA384361137 | FGD4 | c.1280G>A (p.Gly427Glu) c.1535G>A (p.Gly512Glu) c.1001G>A (p.Gly334Glu) c.92G>A (p.Gly31Glu) n.787G>A c.1691G>A (p.Gly564Glu) c.*672G>A (n.*672G>A) c.*691G>A (n.*691G>A) c.869G>A c.1616G>A (p.Gly539Glu) c.*649G>A (n.*649G>A) c.536G>A (p.Gly179Glu) c.248G>A (p.Gly83Glu) c.1772G>A (p.Gly591Glu) c.1574G>A (p.Gly525Glu) c.728G>A (p.Gly243Glu) c.683G>A (p.Gly228Glu) c.515G>A (p.Gly172Glu) c.389G>A (p.Gly130Glu) n.1981G>A | |
12 | g.32611225G>C | CA384361138 | FGD4 | c.1280G>C (p.Gly427Ala) c.1535G>C (p.Gly512Ala) c.1001G>C (p.Gly334Ala) c.92G>C (p.Gly31Ala) n.787G>C c.1691G>C (p.Gly564Ala) c.*672G>C (n.*672G>C) c.*691G>C (n.*691G>C) c.869G>C c.1616G>C (p.Gly539Ala) c.*649G>C (n.*649G>C) c.536G>C (p.Gly179Ala) c.248G>C (p.Gly83Ala) c.1772G>C (p.Gly591Ala) c.1574G>C (p.Gly525Ala) c.728G>C (p.Gly243Ala) c.683G>C (p.Gly228Ala) c.515G>C (p.Gly172Ala) c.389G>C (p.Gly130Ala) n.1981G>C | |
12 | g.32611225G>T | CA384361139 | FGD4 | c.1280G>T (p.Gly427Val) c.1535G>T (p.Gly512Val) c.1001G>T (p.Gly334Val) c.92G>T (p.Gly31Val) n.787G>T c.1691G>T (p.Gly564Val) c.*672G>T (n.*672G>T) c.*691G>T (n.*691G>T) c.869G>T c.1616G>T (p.Gly539Val) c.*649G>T (n.*649G>T) c.536G>T (p.Gly179Val) c.248G>T (p.Gly83Val) c.1772G>T (p.Gly591Val) c.1574G>T (p.Gly525Val) c.728G>T (p.Gly243Val) c.683G>T (p.Gly228Val) c.515G>T (p.Gly172Val) c.389G>T (p.Gly130Val) n.1981G>T | |
12 | g.32611226A>C | CA479167869 | FGD4 | c.1281A>C (p.Gly427=) c.1536A>C (p.Gly512=) c.1002A>C (p.Gly334=) c.93A>C (p.Gly31=) n.788A>C c.1692A>C (p.Gly564=) c.*673A>C (n.*673A>C) c.*692A>C (n.*692A>C) c.870A>C c.1617A>C (p.Gly539=) c.*650A>C (n.*650A>C) c.537A>C (p.Gly179=) c.249A>C (p.Gly83=) c.1773A>C (p.Gly591=) c.1575A>C (p.Gly525=) c.729A>C (p.Gly243=) c.684A>C (p.Gly228=) c.516A>C (p.Gly172=) c.390A>C (p.Gly130=) n.1982A>C | |
12 | g.32611226A>G | CA479167870 | FGD4 | c.1281A>G (p.Gly427=) c.1536A>G (p.Gly512=) c.1002A>G (p.Gly334=) c.93A>G (p.Gly31=) n.788A>G c.1692A>G (p.Gly564=) c.*673A>G (n.*673A>G) c.*692A>G (n.*692A>G) c.870A>G c.1617A>G (p.Gly539=) c.*650A>G (n.*650A>G) c.537A>G (p.Gly179=) c.249A>G (p.Gly83=) c.1773A>G (p.Gly591=) c.1575A>G (p.Gly525=) c.729A>G (p.Gly243=) c.684A>G (p.Gly228=) c.516A>G (p.Gly172=) c.390A>G (p.Gly130=) n.1982A>G | |
12 | g.32611226A>T | CA479167871 | FGD4 | c.1281A>T (p.Gly427=) c.1536A>T (p.Gly512=) c.1002A>T (p.Gly334=) c.93A>T (p.Gly31=) n.788A>T c.1692A>T (p.Gly564=) c.*673A>T (n.*673A>T) c.*692A>T (n.*692A>T) c.870A>T c.1617A>T (p.Gly539=) c.*650A>T (n.*650A>T) c.537A>T (p.Gly179=) c.249A>T (p.Gly83=) c.1773A>T (p.Gly591=) c.1575A>T (p.Gly525=) c.729A>T (p.Gly243=) c.684A>T (p.Gly228=) c.516A>T (p.Gly172=) c.390A>T (p.Gly130=) n.1982A>T | |
12 | g.32611227C>A | CA384361140 | FGD4 | c.1282C>A (p.Gln428Lys) c.1537C>A (p.Gln513Lys) c.1003C>A (p.Gln335Lys) c.94C>A (p.Gln32Lys) n.789C>A c.1693C>A (p.Gln565Lys) c.*674C>A (n.*674C>A) c.*693C>A (n.*693C>A) c.871C>A c.1618C>A (p.Gln540Lys) c.*651C>A (n.*651C>A) c.538C>A (p.Gln180Lys) c.250C>A (p.Gln84Lys) c.1774C>A (p.Gln592Lys) c.1576C>A (p.Gln526Lys) c.730C>A (p.Gln244Lys) c.685C>A (p.Gln229Lys) c.517C>A (p.Gln173Lys) c.391C>A (p.Gln131Lys) n.1983C>A | |
12 | g.32611227C>G | CA384361141 | FGD4 | c.1282C>G (p.Gln428Glu) c.1537C>G (p.Gln513Glu) c.1003C>G (p.Gln335Glu) c.94C>G (p.Gln32Glu) n.789C>G c.1693C>G (p.Gln565Glu) c.*674C>G (n.*674C>G) c.*693C>G (n.*693C>G) c.871C>G c.1618C>G (p.Gln540Glu) c.*651C>G (n.*651C>G) c.538C>G (p.Gln180Glu) c.250C>G (p.Gln84Glu) c.1774C>G (p.Gln592Glu) c.1576C>G (p.Gln526Glu) c.730C>G (p.Gln244Glu) c.685C>G (p.Gln229Glu) c.517C>G (p.Gln173Glu) c.391C>G (p.Gln131Glu) n.1983C>G | |
12 | g.32611227C>T | CA384361142 | FGD4 | c.1282C>T (p.Gln428Ter) c.1537C>T (p.Gln513Ter) c.1003C>T (p.Gln335Ter) c.94C>T (p.Gln32Ter) n.789C>T c.1693C>T (p.Gln565Ter) c.*674C>T (n.*674C>T) c.*693C>T (n.*693C>T) c.871C>T c.1618C>T (p.Gln540Ter) c.*651C>T (n.*651C>T) c.538C>T (p.Gln180Ter) c.250C>T (p.Gln84Ter) c.1774C>T (p.Gln592Ter) c.1576C>T (p.Gln526Ter) c.730C>T (p.Gln244Ter) c.685C>T (p.Gln229Ter) c.517C>T (p.Gln173Ter) c.391C>T (p.Gln131Ter) n.1983C>T | COSMIC COSMIC COSMIC |
12 | g.32611228A= | CA2026267805 | FGD4 | c.1283A= (p.Gln428=) c.1538A= (p.Gln513=) c.1004A= (p.Gln335=) c.95A= (p.Gln32=) n.790A= c.1694A= (p.Gln565=) c.*675A= (n.*675A=) c.*694A= (n.*694A=) c.872A= c.1619A= (p.Gln540=) c.*652A= (n.*652A=) c.539A= (p.Gln180=) c.251A= (p.Gln84=) c.1775A= (p.Gln592=) c.1577A= (p.Gln526=) c.731A= (p.Gln244=) c.686A= (p.Gln229=) c.518A= (p.Gln173=) c.392A= (p.Gln131=) n.1984A= | |
12 | g.32611228A>C | CA6506857 | FGD4 | c.1283A>C (p.Gln428Pro) c.1538A>C (p.Gln513Pro) c.1004A>C (p.Gln335Pro) c.95A>C (p.Gln32Pro) n.790A>C c.1694A>C (p.Gln565Pro) c.*675A>C (n.*675A>C) c.*694A>C (n.*694A>C) c.872A>C c.1619A>C (p.Gln540Pro) c.*652A>C (n.*652A>C) c.539A>C (p.Gln180Pro) c.251A>C (p.Gln84Pro) c.1775A>C (p.Gln592Pro) c.1577A>C (p.Gln526Pro) c.731A>C (p.Gln244Pro) c.686A>C (p.Gln229Pro) c.518A>C (p.Gln173Pro) c.392A>C (p.Gln131Pro) n.1984A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.32611228A>G | CA384361143 | FGD4 | c.1283A>G (p.Gln428Arg) c.1538A>G (p.Gln513Arg) c.1004A>G (p.Gln335Arg) c.95A>G (p.Gln32Arg) n.790A>G c.1694A>G (p.Gln565Arg) c.*675A>G (n.*675A>G) c.*694A>G (n.*694A>G) c.872A>G c.1619A>G (p.Gln540Arg) c.*652A>G (n.*652A>G) c.539A>G (p.Gln180Arg) c.251A>G (p.Gln84Arg) c.1775A>G (p.Gln592Arg) c.1577A>G (p.Gln526Arg) c.731A>G (p.Gln244Arg) c.686A>G (p.Gln229Arg) c.518A>G (p.Gln173Arg) c.392A>G (p.Gln131Arg) n.1984A>G | |
12 | g.32611228A>T | CA384361144 | FGD4 | c.1283A>T (p.Gln428Leu) c.1538A>T (p.Gln513Leu) c.1004A>T (p.Gln335Leu) c.95A>T (p.Gln32Leu) n.790A>T c.1694A>T (p.Gln565Leu) c.*675A>T (n.*675A>T) c.*694A>T (n.*694A>T) c.872A>T c.1619A>T (p.Gln540Leu) c.*652A>T (n.*652A>T) c.539A>T (p.Gln180Leu) c.251A>T (p.Gln84Leu) c.1775A>T (p.Gln592Leu) c.1577A>T (p.Gln526Leu) c.731A>T (p.Gln244Leu) c.686A>T (p.Gln229Leu) c.518A>T (p.Gln173Leu) c.392A>T (p.Gln131Leu) n.1984A>T | |
12 | g.32611229G>A | CA479167872 | FGD4 | c.1284G>A (p.Gln428=) c.1539G>A (p.Gln513=) c.1005G>A (p.Gln335=) c.96G>A (p.Gln32=) n.791G>A c.1695G>A (p.Gln565=) c.*676G>A (n.*676G>A) c.*695G>A (n.*695G>A) c.873G>A c.1620G>A (p.Gln540=) c.*653G>A (n.*653G>A) c.540G>A (p.Gln180=) c.252G>A (p.Gln84=) c.1776G>A (p.Gln592=) c.1578G>A (p.Gln526=) c.732G>A (p.Gln244=) c.687G>A (p.Gln229=) c.519G>A (p.Gln173=) c.393G>A (p.Gln131=) n.1985G>A | dbSNP |
12 | g.32611229G>C | CA384361145 | FGD4 | c.1284G>C (p.Gln428His) c.1539G>C (p.Gln513His) c.1005G>C (p.Gln335His) c.96G>C (p.Gln32His) n.791G>C c.1695G>C (p.Gln565His) c.*676G>C (n.*676G>C) c.*695G>C (n.*695G>C) c.873G>C c.1620G>C (p.Gln540His) c.*653G>C (n.*653G>C) c.540G>C (p.Gln180His) c.252G>C (p.Gln84His) c.1776G>C (p.Gln592His) c.1578G>C (p.Gln526His) c.732G>C (p.Gln244His) c.687G>C (p.Gln229His) c.519G>C (p.Gln173His) c.393G>C (p.Gln131His) n.1985G>C | dbSNP |
12 | g.32611229G= | CA2026267806 | FGD4 | c.1284G= (p.Gln428=) c.1539G= (p.Gln513=) c.1005G= (p.Gln335=) c.96G= (p.Gln32=) n.791G= c.1695G= (p.Gln565=) c.*676G= (n.*676G=) c.*695G= (n.*695G=) c.873G= c.1620G= (p.Gln540=) c.*653G= (n.*653G=) c.540G= (p.Gln180=) c.252G= (p.Gln84=) c.1776G= (p.Gln592=) c.1578G= (p.Gln526=) c.732G= (p.Gln244=) c.687G= (p.Gln229=) c.519G= (p.Gln173=) c.393G= (p.Gln131=) n.1985G= | |
12 | g.32611229G>T | CA384361146 | FGD4 | c.1284G>T (p.Gln428His) c.1539G>T (p.Gln513His) c.1005G>T (p.Gln335His) c.96G>T (p.Gln32His) n.791G>T c.1695G>T (p.Gln565His) c.*676G>T (n.*676G>T) c.*695G>T (n.*695G>T) c.873G>T c.1620G>T (p.Gln540His) c.*653G>T (n.*653G>T) c.540G>T (p.Gln180His) c.252G>T (p.Gln84His) c.1776G>T (p.Gln592His) c.1578G>T (p.Gln526His) c.732G>T (p.Gln244His) c.687G>T (p.Gln229His) c.519G>T (p.Gln173His) c.393G>T (p.Gln131His) n.1985G>T | |
12 | g.32611230A>C | CA384361147 | FGD4 | c.1285A>C (p.Ile429Leu) c.1540A>C (p.Ile514Leu) c.1006A>C (p.Ile336Leu) c.97A>C (p.Ile33Leu) n.792A>C c.1696A>C (p.Ile566Leu) c.*677A>C (n.*677A>C) c.*696A>C (n.*696A>C) c.874A>C c.1621A>C (p.Ile541Leu) c.*654A>C (n.*654A>C) c.541A>C (p.Ile181Leu) c.253A>C (p.Ile85Leu) c.1777A>C (p.Ile593Leu) c.1579A>C (p.Ile527Leu) c.733A>C (p.Ile245Leu) c.688A>C (p.Ile230Leu) c.520A>C (p.Ile174Leu) c.394A>C (p.Ile132Leu) n.1986A>C | |
12 | g.32611230A>G | CA384361148 | FGD4 | c.1285A>G (p.Ile429Val) c.1540A>G (p.Ile514Val) c.1006A>G (p.Ile336Val) c.97A>G (p.Ile33Val) n.792A>G c.1696A>G (p.Ile566Val) c.*677A>G (n.*677A>G) c.*696A>G (n.*696A>G) c.874A>G c.1621A>G (p.Ile541Val) c.*654A>G (n.*654A>G) c.541A>G (p.Ile181Val) c.253A>G (p.Ile85Val) c.1777A>G (p.Ile593Val) c.1579A>G (p.Ile527Val) c.733A>G (p.Ile245Val) c.688A>G (p.Ile230Val) c.520A>G (p.Ile174Val) c.394A>G (p.Ile132Val) n.1986A>G | |
12 | g.32611230A>T | CA384361149 | FGD4 | c.1285A>T (p.Ile429Phe) c.1540A>T (p.Ile514Phe) c.1006A>T (p.Ile336Phe) c.97A>T (p.Ile33Phe) n.792A>T c.1696A>T (p.Ile566Phe) c.*677A>T (n.*677A>T) c.*696A>T (n.*696A>T) c.874A>T c.1621A>T (p.Ile541Phe) c.*654A>T (n.*654A>T) c.541A>T (p.Ile181Phe) c.253A>T (p.Ile85Phe) c.1777A>T (p.Ile593Phe) c.1579A>T (p.Ile527Phe) c.733A>T (p.Ile245Phe) c.688A>T (p.Ile230Phe) c.520A>T (p.Ile174Phe) c.394A>T (p.Ile132Phe) n.1986A>T | |
12 | g.32611231T>A | CA384361150 | FGD4 | c.1286T>A (p.Ile429Asn) c.1541T>A (p.Ile514Asn) c.1007T>A (p.Ile336Asn) c.98T>A (p.Ile33Asn) n.793T>A c.1697T>A (p.Ile566Asn) c.*678T>A (n.*678T>A) c.*697T>A (n.*697T>A) c.875T>A c.1622T>A (p.Ile541Asn) c.*655T>A (n.*655T>A) c.542T>A (p.Ile181Asn) c.254T>A (p.Ile85Asn) c.1778T>A (p.Ile593Asn) c.1580T>A (p.Ile527Asn) c.734T>A (p.Ile245Asn) c.689T>A (p.Ile230Asn) c.521T>A (p.Ile174Asn) c.395T>A (p.Ile132Asn) n.1987T>A | |
12 | g.32611231T>C | CA384361151 | FGD4 | c.1286T>C (p.Ile429Thr) c.1541T>C (p.Ile514Thr) c.1007T>C (p.Ile336Thr) c.98T>C (p.Ile33Thr) n.793T>C c.1697T>C (p.Ile566Thr) c.*678T>C (n.*678T>C) c.*697T>C (n.*697T>C) c.875T>C c.1622T>C (p.Ile541Thr) c.*655T>C (n.*655T>C) c.542T>C (p.Ile181Thr) c.254T>C (p.Ile85Thr) c.1778T>C (p.Ile593Thr) c.1580T>C (p.Ile527Thr) c.734T>C (p.Ile245Thr) c.689T>C (p.Ile230Thr) c.521T>C (p.Ile174Thr) c.395T>C (p.Ile132Thr) n.1987T>C | gnomAD v4 |
12 | g.32611231T>G | CA384361152 | FGD4 | c.1286T>G (p.Ile429Ser) c.1541T>G (p.Ile514Ser) c.1007T>G (p.Ile336Ser) c.98T>G (p.Ile33Ser) n.793T>G c.1697T>G (p.Ile566Ser) c.*678T>G (n.*678T>G) c.*697T>G (n.*697T>G) c.875T>G c.1622T>G (p.Ile541Ser) c.*655T>G (n.*655T>G) c.542T>G (p.Ile181Ser) c.254T>G (p.Ile85Ser) c.1778T>G (p.Ile593Ser) c.1580T>G (p.Ile527Ser) c.734T>G (p.Ile245Ser) c.689T>G (p.Ile230Ser) c.521T>G (p.Ile174Ser) c.395T>G (p.Ile132Ser) n.1987T>G | |
12 | g.32611232C>A | CA479167873 | FGD4 | c.1287C>A (p.Ile429=) c.1542C>A (p.Ile514=) c.1008C>A (p.Ile336=) c.99C>A (p.Ile33=) n.794C>A c.1698C>A (p.Ile566=) c.*679C>A (n.*679C>A) c.*698C>A (n.*698C>A) c.876C>A c.1623C>A (p.Ile541=) c.*656C>A (n.*656C>A) c.543C>A (p.Ile181=) c.255C>A (p.Ile85=) c.1779C>A (p.Ile593=) c.1581C>A (p.Ile527=) c.735C>A (p.Ile245=) c.690C>A (p.Ile230=) c.522C>A (p.Ile174=) c.396C>A (p.Ile132=) n.1988C>A | gnomAD v4 |
12 | g.32611232C>G | CA384361153 | FGD4 | c.1287C>G (p.Ile429Met) c.1542C>G (p.Ile514Met) c.1008C>G (p.Ile336Met) c.99C>G (p.Ile33Met) n.794C>G c.1698C>G (p.Ile566Met) c.*679C>G (n.*679C>G) c.*698C>G (n.*698C>G) c.876C>G c.1623C>G (p.Ile541Met) c.*656C>G (n.*656C>G) c.543C>G (p.Ile181Met) c.255C>G (p.Ile85Met) c.1779C>G (p.Ile593Met) c.1581C>G (p.Ile527Met) c.735C>G (p.Ile245Met) c.690C>G (p.Ile230Met) c.522C>G (p.Ile174Met) c.396C>G (p.Ile132Met) n.1988C>G | |
12 | g.32611232C>T | CA479167874 | FGD4 | c.1287C>T (p.Ile429=) c.1542C>T (p.Ile514=) c.1008C>T (p.Ile336=) c.99C>T (p.Ile33=) n.794C>T c.1698C>T (p.Ile566=) c.*679C>T (n.*679C>T) c.*698C>T (n.*698C>T) c.876C>T c.1623C>T (p.Ile541=) c.*656C>T (n.*656C>T) c.543C>T (p.Ile181=) c.255C>T (p.Ile85=) c.1779C>T (p.Ile593=) c.1581C>T (p.Ile527=) c.735C>T (p.Ile245=) c.690C>T (p.Ile230=) c.522C>T (p.Ile174=) c.396C>T (p.Ile132=) n.1988C>T | |
12 | g.32611233C>A | CA384361154 | FGD4 | c.1288C>A (p.Leu430Ile) c.1543C>A (p.Leu515Ile) c.1009C>A (p.Leu337Ile) c.100C>A (p.Leu34Ile) n.795C>A c.1699C>A (p.Leu567Ile) c.*680C>A (n.*680C>A) c.*699C>A (n.*699C>A) c.877C>A c.1624C>A (p.Leu542Ile) c.*657C>A (n.*657C>A) c.544C>A (p.Leu182Ile) c.256C>A (p.Leu86Ile) c.1780C>A (p.Leu594Ile) c.1582C>A (p.Leu528Ile) c.736C>A (p.Leu246Ile) c.691C>A (p.Leu231Ile) c.523C>A (p.Leu175Ile) c.397C>A (p.Leu133Ile) n.1989C>A | |
12 | g.32611233C>G | CA384361155 | FGD4 | c.1288C>G (p.Leu430Val) c.1543C>G (p.Leu515Val) c.1009C>G (p.Leu337Val) c.100C>G (p.Leu34Val) n.795C>G c.1699C>G (p.Leu567Val) c.*680C>G (n.*680C>G) c.*699C>G (n.*699C>G) c.877C>G c.1624C>G (p.Leu542Val) c.*657C>G (n.*657C>G) c.544C>G (p.Leu182Val) c.256C>G (p.Leu86Val) c.1780C>G (p.Leu594Val) c.1582C>G (p.Leu528Val) c.736C>G (p.Leu246Val) c.691C>G (p.Leu231Val) c.523C>G (p.Leu175Val) c.397C>G (p.Leu133Val) n.1989C>G | |
12 | g.32611233C>T | CA384361156 | FGD4 | c.1288C>T (p.Leu430Phe) c.1543C>T (p.Leu515Phe) c.1009C>T (p.Leu337Phe) c.100C>T (p.Leu34Phe) n.795C>T c.1699C>T (p.Leu567Phe) c.*680C>T (n.*680C>T) c.*699C>T (n.*699C>T) c.877C>T c.1624C>T (p.Leu542Phe) c.*657C>T (n.*657C>T) c.544C>T (p.Leu182Phe) c.256C>T (p.Leu86Phe) c.1780C>T (p.Leu594Phe) c.1582C>T (p.Leu528Phe) c.736C>T (p.Leu246Phe) c.691C>T (p.Leu231Phe) c.523C>T (p.Leu175Phe) c.397C>T (p.Leu133Phe) n.1989C>T | ClinVar |
12 | g.32611234T>A | CA384361157 | FGD4 | c.1289T>A (p.Leu430His) c.1544T>A (p.Leu515His) c.1010T>A (p.Leu337His) c.101T>A (p.Leu34His) n.796T>A c.1700T>A (p.Leu567His) c.*681T>A (n.*681T>A) c.*700T>A (n.*700T>A) c.878T>A c.1625T>A (p.Leu542His) c.*658T>A (n.*658T>A) c.545T>A (p.Leu182His) c.257T>A (p.Leu86His) c.1781T>A (p.Leu594His) c.1583T>A (p.Leu528His) c.737T>A (p.Leu246His) c.692T>A (p.Leu231His) c.524T>A (p.Leu175His) c.398T>A (p.Leu133His) n.1990T>A | gnomAD v4 |
12 | g.32611234T>C | CA384361158 | FGD4 | c.1289T>C (p.Leu430Pro) c.1544T>C (p.Leu515Pro) c.1010T>C (p.Leu337Pro) c.101T>C (p.Leu34Pro) n.796T>C c.1700T>C (p.Leu567Pro) c.*681T>C (n.*681T>C) c.*700T>C (n.*700T>C) c.878T>C c.1625T>C (p.Leu542Pro) c.*658T>C (n.*658T>C) c.545T>C (p.Leu182Pro) c.257T>C (p.Leu86Pro) c.1781T>C (p.Leu594Pro) c.1583T>C (p.Leu528Pro) c.737T>C (p.Leu246Pro) c.692T>C (p.Leu231Pro) c.524T>C (p.Leu175Pro) c.398T>C (p.Leu133Pro) n.1990T>C | |
12 | g.32611234T>G | CA384361159 | FGD4 | c.1289T>G (p.Leu430Arg) c.1544T>G (p.Leu515Arg) c.1010T>G (p.Leu337Arg) c.101T>G (p.Leu34Arg) n.796T>G c.1700T>G (p.Leu567Arg) c.*681T>G (n.*681T>G) c.*700T>G (n.*700T>G) c.878T>G c.1625T>G (p.Leu542Arg) c.*658T>G (n.*658T>G) c.545T>G (p.Leu182Arg) c.257T>G (p.Leu86Arg) c.1781T>G (p.Leu594Arg) c.1583T>G (p.Leu528Arg) c.737T>G (p.Leu246Arg) c.692T>G (p.Leu231Arg) c.524T>G (p.Leu175Arg) c.398T>G (p.Leu133Arg) n.1990T>G | |
12 | g.32611235C>A | CA479167876 | FGD4 | c.1290C>A (p.Leu430=) c.1545C>A (p.Leu515=) c.1011C>A (p.Leu337=) c.102C>A (p.Leu34=) n.797C>A c.1701C>A (p.Leu567=) c.*682C>A (n.*682C>A) c.*701C>A (n.*701C>A) c.879C>A c.1626C>A (p.Leu542=) c.*659C>A (n.*659C>A) c.546C>A (p.Leu182=) c.258C>A (p.Leu86=) c.1782C>A (p.Leu594=) c.1584C>A (p.Leu528=) c.738C>A (p.Leu246=) c.693C>A (p.Leu231=) c.525C>A (p.Leu175=) c.399C>A (p.Leu133=) n.1991C>A | |
12 | g.32611235C>G | CA479167877 | FGD4 | c.1290C>G (p.Leu430=) c.1545C>G (p.Leu515=) c.1011C>G (p.Leu337=) c.102C>G (p.Leu34=) n.797C>G c.1701C>G (p.Leu567=) c.*682C>G (n.*682C>G) c.*701C>G (n.*701C>G) c.879C>G c.1626C>G (p.Leu542=) c.*659C>G (n.*659C>G) c.546C>G (p.Leu182=) c.258C>G (p.Leu86=) c.1782C>G (p.Leu594=) c.1584C>G (p.Leu528=) c.738C>G (p.Leu246=) c.693C>G (p.Leu231=) c.525C>G (p.Leu175=) c.399C>G (p.Leu133=) n.1991C>G | |
12 | g.32611235C>T | CA479167875 | FGD4 | c.1290C>T (p.Leu430=) c.1545C>T (p.Leu515=) c.1011C>T (p.Leu337=) c.102C>T (p.Leu34=) n.797C>T c.1701C>T (p.Leu567=) c.*682C>T (n.*682C>T) c.*701C>T (n.*701C>T) c.879C>T c.1626C>T (p.Leu542=) c.*659C>T (n.*659C>T) c.546C>T (p.Leu182=) c.258C>T (p.Leu86=) c.1782C>T (p.Leu594=) c.1584C>T (p.Leu528=) c.738C>T (p.Leu246=) c.693C>T (p.Leu231=) c.525C>T (p.Leu175=) c.399C>T (p.Leu133=) n.1991C>T | |
12 | g.32611236A>C | CA384361162 | FGD4 | c.1291A>C (p.Lys431Gln) c.1546A>C (p.Lys516Gln) c.1012A>C (p.Lys338Gln) c.103A>C (p.Lys35Gln) n.798A>C c.1702A>C (p.Lys568Gln) c.*683A>C (n.*683A>C) c.*702A>C (n.*702A>C) c.880A>C c.1627A>C (p.Lys543Gln) c.*660A>C (n.*660A>C) c.547A>C (p.Lys183Gln) c.259A>C (p.Lys87Gln) c.1783A>C (p.Lys595Gln) c.1585A>C (p.Lys529Gln) c.739A>C (p.Lys247Gln) c.694A>C (p.Lys232Gln) c.526A>C (p.Lys176Gln) c.400A>C (p.Lys134Gln) n.1992A>C | |
12 | g.32611236A>G | CA384361160 | FGD4 | c.1291A>G (p.Lys431Glu) c.1546A>G (p.Lys516Glu) c.1012A>G (p.Lys338Glu) c.103A>G (p.Lys35Glu) n.798A>G c.1702A>G (p.Lys568Glu) c.*683A>G (n.*683A>G) c.*702A>G (n.*702A>G) c.880A>G c.1627A>G (p.Lys543Glu) c.*660A>G (n.*660A>G) c.547A>G (p.Lys183Glu) c.259A>G (p.Lys87Glu) c.1783A>G (p.Lys595Glu) c.1585A>G (p.Lys529Glu) c.739A>G (p.Lys247Glu) c.694A>G (p.Lys232Glu) c.526A>G (p.Lys176Glu) c.400A>G (p.Lys134Glu) n.1992A>G | |
12 | g.32611236A>T | CA384361161 | FGD4 | c.1291A>T (p.Lys431Ter) c.1546A>T (p.Lys516Ter) c.1012A>T (p.Lys338Ter) c.103A>T (p.Lys35Ter) n.798A>T c.1702A>T (p.Lys568Ter) c.*683A>T (n.*683A>T) c.*702A>T (n.*702A>T) c.880A>T c.1627A>T (p.Lys543Ter) c.*660A>T (n.*660A>T) c.547A>T (p.Lys183Ter) c.259A>T (p.Lys87Ter) c.1783A>T (p.Lys595Ter) c.1585A>T (p.Lys529Ter) c.739A>T (p.Lys247Ter) c.694A>T (p.Lys232Ter) c.526A>T (p.Lys176Ter) c.400A>T (p.Lys134Ter) n.1992A>T | |
12 | g.32611237A= | CA2026267807 | FGD4 | c.1292A= (p.Lys431=) c.1547A= (p.Lys516=) c.1013A= (p.Lys338=) c.104A= (p.Lys35=) n.799A= c.1703A= (p.Lys568=) c.*684A= (n.*684A=) c.*703A= (n.*703A=) c.881A= c.1628A= (p.Lys543=) c.*661A= (n.*661A=) c.548A= (p.Lys183=) c.260A= (p.Lys87=) c.1784A= (p.Lys595=) c.1586A= (p.Lys529=) c.740A= (p.Lys247=) c.695A= (p.Lys232=) c.527A= (p.Lys176=) c.401A= (p.Lys134=) n.1993A= | |
12 | g.32611237A>C | CA384361163 | FGD4 | c.1292A>C (p.Lys431Thr) c.1547A>C (p.Lys516Thr) c.1013A>C (p.Lys338Thr) c.104A>C (p.Lys35Thr) n.799A>C c.1703A>C (p.Lys568Thr) c.*684A>C (n.*684A>C) c.*703A>C (n.*703A>C) c.881A>C c.1628A>C (p.Lys543Thr) c.*661A>C (n.*661A>C) c.548A>C (p.Lys183Thr) c.260A>C (p.Lys87Thr) c.1784A>C (p.Lys595Thr) c.1586A>C (p.Lys529Thr) c.740A>C (p.Lys247Thr) c.695A>C (p.Lys232Thr) c.527A>C (p.Lys176Thr) c.401A>C (p.Lys134Thr) n.1993A>C | gnomAD v4 |
12 | g.32611237A>G | CA384361164 | FGD4 | c.1292A>G (p.Lys431Arg) c.1547A>G (p.Lys516Arg) c.1013A>G (p.Lys338Arg) c.104A>G (p.Lys35Arg) n.799A>G c.1703A>G (p.Lys568Arg) c.*684A>G (n.*684A>G) c.*703A>G (n.*703A>G) c.881A>G c.1628A>G (p.Lys543Arg) c.*661A>G (n.*661A>G) c.548A>G (p.Lys183Arg) c.260A>G (p.Lys87Arg) c.1784A>G (p.Lys595Arg) c.1586A>G (p.Lys529Arg) c.740A>G (p.Lys247Arg) c.695A>G (p.Lys232Arg) c.527A>G (p.Lys176Arg) c.401A>G (p.Lys134Arg) n.1993A>G | |
12 | g.32611237A>T | CA384361165 | FGD4 | c.1292A>T (p.Lys431Ile) c.1547A>T (p.Lys516Ile) c.1013A>T (p.Lys338Ile) c.104A>T (p.Lys35Ile) n.799A>T c.1703A>T (p.Lys568Ile) c.*684A>T (n.*684A>T) c.*703A>T (n.*703A>T) c.881A>T c.1628A>T (p.Lys543Ile) c.*661A>T (n.*661A>T) c.548A>T (p.Lys183Ile) c.260A>T (p.Lys87Ile) c.1784A>T (p.Lys595Ile) c.1586A>T (p.Lys529Ile) c.740A>T (p.Lys247Ile) c.695A>T (p.Lys232Ile) c.527A>T (p.Lys176Ile) c.401A>T (p.Lys134Ile) n.1993A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.32611238A>C | CA384361166 | FGD4 | c.1293A>C (p.Lys431Asn) c.1548A>C (p.Lys516Asn) c.1014A>C (p.Lys338Asn) c.105A>C (p.Lys35Asn) n.800A>C c.1704A>C (p.Lys568Asn) c.*685A>C (n.*685A>C) c.*704A>C (n.*704A>C) c.882A>C c.1629A>C (p.Lys543Asn) c.*662A>C (n.*662A>C) c.549A>C (p.Lys183Asn) c.261A>C (p.Lys87Asn) c.1785A>C (p.Lys595Asn) c.1587A>C (p.Lys529Asn) c.741A>C (p.Lys247Asn) c.696A>C (p.Lys232Asn) c.528A>C (p.Lys176Asn) c.402A>C (p.Lys134Asn) n.1994A>C | |
12 | g.32611238A>G | CA479167878 | FGD4 | c.1293A>G (p.Lys431=) c.1548A>G (p.Lys516=) c.1014A>G (p.Lys338=) c.105A>G (p.Lys35=) n.800A>G c.1704A>G (p.Lys568=) c.*685A>G (n.*685A>G) c.*704A>G (n.*704A>G) c.882A>G c.1629A>G (p.Lys543=) c.*662A>G (n.*662A>G) c.549A>G (p.Lys183=) c.261A>G (p.Lys87=) c.1785A>G (p.Lys595=) c.1587A>G (p.Lys529=) c.741A>G (p.Lys247=) c.696A>G (p.Lys232=) c.528A>G (p.Lys176=) c.402A>G (p.Lys134=) n.1994A>G | |
12 | g.32611238A>T | CA384361167 | FGD4 | c.1293A>T (p.Lys431Asn) c.1548A>T (p.Lys516Asn) c.1014A>T (p.Lys338Asn) c.105A>T (p.Lys35Asn) n.800A>T c.1704A>T (p.Lys568Asn) c.*685A>T (n.*685A>T) c.*704A>T (n.*704A>T) c.882A>T c.1629A>T (p.Lys543Asn) c.*662A>T (n.*662A>T) c.549A>T (p.Lys183Asn) c.261A>T (p.Lys87Asn) c.1785A>T (p.Lys595Asn) c.1587A>T (p.Lys529Asn) c.741A>T (p.Lys247Asn) c.696A>T (p.Lys232Asn) c.528A>T (p.Lys176Asn) c.402A>T (p.Lys134Asn) n.1994A>T | |
12 | g.32611239C>A | CA384361168 | FGD4 | c.1294C>A (p.Leu432Ile) c.1549C>A (p.Leu517Ile) c.1015C>A (p.Leu339Ile) c.106C>A (p.Leu36Ile) n.801C>A c.1705C>A (p.Leu569Ile) c.*686C>A (n.*686C>A) c.*705C>A (n.*705C>A) c.883C>A c.1630C>A (p.Leu544Ile) c.*663C>A (n.*663C>A) c.550C>A (p.Leu184Ile) c.262C>A (p.Leu88Ile) c.1786C>A (p.Leu596Ile) c.1588C>A (p.Leu530Ile) c.742C>A (p.Leu248Ile) c.697C>A (p.Leu233Ile) c.529C>A (p.Leu177Ile) c.403C>A (p.Leu135Ile) n.1995C>A | |
12 | g.32611239C= | CA2026267808 | FGD4 | c.1294C= (p.Leu432=) c.1549C= (p.Leu517=) c.1015C= (p.Leu339=) c.106C= (p.Leu36=) n.801C= c.1705C= (p.Leu569=) c.*686C= (n.*686C=) c.*705C= (n.*705C=) c.883C= c.1630C= (p.Leu544=) c.*663C= (n.*663C=) c.550C= (p.Leu184=) c.262C= (p.Leu88=) c.1786C= (p.Leu596=) c.1588C= (p.Leu530=) c.742C= (p.Leu248=) c.697C= (p.Leu233=) c.529C= (p.Leu177=) c.403C= (p.Leu135=) n.1995C= | |
12 | g.32611239C>G | CA384361169 | FGD4 | c.1294C>G (p.Leu432Val) c.1549C>G (p.Leu517Val) c.1015C>G (p.Leu339Val) c.106C>G (p.Leu36Val) n.801C>G c.1705C>G (p.Leu569Val) c.*686C>G (n.*686C>G) c.*705C>G (n.*705C>G) c.883C>G c.1630C>G (p.Leu544Val) c.*663C>G (n.*663C>G) c.550C>G (p.Leu184Val) c.262C>G (p.Leu88Val) c.1786C>G (p.Leu596Val) c.1588C>G (p.Leu530Val) c.742C>G (p.Leu248Val) c.697C>G (p.Leu233Val) c.529C>G (p.Leu177Val) c.403C>G (p.Leu135Val) n.1995C>G | dbSNP |
12 | g.32611239C>T | CA235216107 | FGD4 | c.1294C>T (p.Leu432=) c.1549C>T (p.Leu517=) c.1015C>T (p.Leu339=) c.106C>T (p.Leu36=) n.801C>T c.1705C>T (p.Leu569=) c.*686C>T (n.*686C>T) c.*705C>T (n.*705C>T) c.883C>T c.1630C>T (p.Leu544=) c.*663C>T (n.*663C>T) c.550C>T (p.Leu184=) c.262C>T (p.Leu88=) c.1786C>T (p.Leu596=) c.1588C>T (p.Leu530=) c.742C>T (p.Leu248=) c.697C>T (p.Leu233=) c.529C>T (p.Leu177=) c.403C>T (p.Leu135=) n.1995C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.32611240T>A | CA384361170 | FGD4 | c.1295T>A (p.Leu432Gln) c.1550T>A (p.Leu517Gln) c.1016T>A (p.Leu339Gln) c.107T>A (p.Leu36Gln) n.802T>A c.1706T>A (p.Leu569Gln) c.*687T>A (n.*687T>A) c.*706T>A (n.*706T>A) c.884T>A c.1631T>A (p.Leu544Gln) c.*664T>A (n.*664T>A) c.551T>A (p.Leu184Gln) c.263T>A (p.Leu88Gln) c.1787T>A (p.Leu596Gln) c.1589T>A (p.Leu530Gln) c.743T>A (p.Leu248Gln) c.698T>A (p.Leu233Gln) c.530T>A (p.Leu177Gln) c.404T>A (p.Leu135Gln) n.1996T>A | |
12 | g.32611240T>C | CA384361172 | FGD4 | c.1295T>C (p.Leu432Pro) c.1550T>C (p.Leu517Pro) c.1016T>C (p.Leu339Pro) c.107T>C (p.Leu36Pro) n.802T>C c.1706T>C (p.Leu569Pro) c.*687T>C (n.*687T>C) c.*706T>C (n.*706T>C) c.884T>C c.1631T>C (p.Leu544Pro) c.*664T>C (n.*664T>C) c.551T>C (p.Leu184Pro) c.263T>C (p.Leu88Pro) c.1787T>C (p.Leu596Pro) c.1589T>C (p.Leu530Pro) c.743T>C (p.Leu248Pro) c.698T>C (p.Leu233Pro) c.530T>C (p.Leu177Pro) c.404T>C (p.Leu135Pro) n.1996T>C | gnomAD v4 |
12 | g.32611240T>G | CA384361171 | FGD4 | c.1295T>G (p.Leu432Arg) c.1550T>G (p.Leu517Arg) c.1016T>G (p.Leu339Arg) c.107T>G (p.Leu36Arg) n.802T>G c.1706T>G (p.Leu569Arg) c.*687T>G (n.*687T>G) c.*706T>G (n.*706T>G) c.884T>G c.1631T>G (p.Leu544Arg) c.*664T>G (n.*664T>G) c.551T>G (p.Leu184Arg) c.263T>G (p.Leu88Arg) c.1787T>G (p.Leu596Arg) c.1589T>G (p.Leu530Arg) c.743T>G (p.Leu248Arg) c.698T>G (p.Leu233Arg) c.530T>G (p.Leu177Arg) c.404T>G (p.Leu135Arg) n.1996T>G | |
12 | g.32611241A= | CA2026267809 | FGD4 | c.1296A= (p.Leu432=) c.1551A= (p.Leu517=) c.1017A= (p.Leu339=) c.108A= (p.Leu36=) n.803A= c.1707A= (p.Leu569=) c.*688A= (n.*688A=) c.*707A= (n.*707A=) c.885A= c.1632A= (p.Leu544=) c.*665A= (n.*665A=) c.552A= (p.Leu184=) c.264A= (p.Leu88=) c.1788A= (p.Leu596=) c.1590A= (p.Leu530=) c.744A= (p.Leu248=) c.699A= (p.Leu233=) c.531A= (p.Leu177=) c.405A= (p.Leu135=) n.1997A= | |
12 | g.32611241A>C | CA479167880 | FGD4 | c.1296A>C (p.Leu432=) c.1551A>C (p.Leu517=) c.1017A>C (p.Leu339=) c.108A>C (p.Leu36=) n.803A>C c.1707A>C (p.Leu569=) c.*688A>C (n.*688A>C) c.*707A>C (n.*707A>C) c.885A>C c.1632A>C (p.Leu544=) c.*665A>C (n.*665A>C) c.552A>C (p.Leu184=) c.264A>C (p.Leu88=) c.1788A>C (p.Leu596=) c.1590A>C (p.Leu530=) c.744A>C (p.Leu248=) c.699A>C (p.Leu233=) c.531A>C (p.Leu177=) c.405A>C (p.Leu135=) n.1997A>C | |
12 | g.32611241A>G | CA6506858 | FGD4 | c.1296A>G (p.Leu432=) c.1551A>G (p.Leu517=) c.1017A>G (p.Leu339=) c.108A>G (p.Leu36=) n.803A>G c.1707A>G (p.Leu569=) c.*688A>G (n.*688A>G) c.*707A>G (n.*707A>G) c.885A>G c.1632A>G (p.Leu544=) c.*665A>G (n.*665A>G) c.552A>G (p.Leu184=) c.264A>G (p.Leu88=) c.1788A>G (p.Leu596=) c.1590A>G (p.Leu530=) c.744A>G (p.Leu248=) c.699A>G (p.Leu233=) c.531A>G (p.Leu177=) c.405A>G (p.Leu135=) n.1997A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.32611241A>T | CA479167879 | FGD4 | c.1296A>T (p.Leu432=) c.1551A>T (p.Leu517=) c.1017A>T (p.Leu339=) c.108A>T (p.Leu36=) n.803A>T c.1707A>T (p.Leu569=) c.*688A>T (n.*688A>T) c.*707A>T (n.*707A>T) c.885A>T c.1632A>T (p.Leu544=) c.*665A>T (n.*665A>T) c.552A>T (p.Leu184=) c.264A>T (p.Leu88=) c.1788A>T (p.Leu596=) c.1590A>T (p.Leu530=) c.744A>T (p.Leu248=) c.699A>T (p.Leu233=) c.531A>T (p.Leu177=) c.405A>T (p.Leu135=) n.1997A>T | |
12 | g.32611242G>A | CA384361173 | FGD4 | c.1297G>A (p.Ala433Thr) c.1552G>A (p.Ala518Thr) c.1018G>A (p.Ala340Thr) c.109G>A (p.Ala37Thr) n.804G>A c.1708G>A (p.Ala570Thr) c.*689G>A (n.*689G>A) c.*708G>A (n.*708G>A) c.886G>A c.1633G>A (p.Ala545Thr) c.*666G>A (n.*666G>A) c.553G>A (p.Ala185Thr) c.265G>A (p.Ala89Thr) c.1789G>A (p.Ala597Thr) c.1591G>A (p.Ala531Thr) c.745G>A (p.Ala249Thr) c.700G>A (p.Ala234Thr) c.532G>A (p.Ala178Thr) c.406G>A (p.Ala136Thr) n.1998G>A | |
12 | g.32611242G>C | CA384361174 | FGD4 | c.1297G>C (p.Ala433Pro) c.1552G>C (p.Ala518Pro) c.1018G>C (p.Ala340Pro) c.109G>C (p.Ala37Pro) n.804G>C c.1708G>C (p.Ala570Pro) c.*689G>C (n.*689G>C) c.*708G>C (n.*708G>C) c.886G>C c.1633G>C (p.Ala545Pro) c.*666G>C (n.*666G>C) c.553G>C (p.Ala185Pro) c.265G>C (p.Ala89Pro) c.1789G>C (p.Ala597Pro) c.1591G>C (p.Ala531Pro) c.745G>C (p.Ala249Pro) c.700G>C (p.Ala234Pro) c.532G>C (p.Ala178Pro) c.406G>C (p.Ala136Pro) n.1998G>C | |
12 | g.32611242G>T | CA384361175 | FGD4 | c.1297G>T (p.Ala433Ser) c.1552G>T (p.Ala518Ser) c.1018G>T (p.Ala340Ser) c.109G>T (p.Ala37Ser) n.804G>T c.1708G>T (p.Ala570Ser) c.*689G>T (n.*689G>T) c.*708G>T (n.*708G>T) c.886G>T c.1633G>T (p.Ala545Ser) c.*666G>T (n.*666G>T) c.553G>T (p.Ala185Ser) c.265G>T (p.Ala89Ser) c.1789G>T (p.Ala597Ser) c.1591G>T (p.Ala531Ser) c.745G>T (p.Ala249Ser) c.700G>T (p.Ala234Ser) c.532G>T (p.Ala178Ser) c.406G>T (p.Ala136Ser) n.1998G>T | |
12 | g.32611243C>A | CA384361178 | FGD4 | c.1298C>A (p.Ala433Asp) c.1553C>A (p.Ala518Asp) c.1019C>A (p.Ala340Asp) c.110C>A (p.Ala37Asp) n.805C>A c.1709C>A (p.Ala570Asp) c.*690C>A (n.*690C>A) c.*709C>A (n.*709C>A) c.887C>A c.1634C>A (p.Ala545Asp) c.*667C>A (n.*667C>A) c.554C>A (p.Ala185Asp) c.266C>A (p.Ala89Asp) c.1790C>A (p.Ala597Asp) c.1592C>A (p.Ala531Asp) c.746C>A (p.Ala249Asp) c.701C>A (p.Ala234Asp) c.533C>A (p.Ala178Asp) c.407C>A (p.Ala136Asp) n.1999C>A | |
12 | g.32611243C>G | CA384361176 | FGD4 | c.1298C>G (p.Ala433Gly) c.1553C>G (p.Ala518Gly) c.1019C>G (p.Ala340Gly) c.110C>G (p.Ala37Gly) n.805C>G c.1709C>G (p.Ala570Gly) c.*690C>G (n.*690C>G) c.*709C>G (n.*709C>G) c.887C>G c.1634C>G (p.Ala545Gly) c.*667C>G (n.*667C>G) c.554C>G (p.Ala185Gly) c.266C>G (p.Ala89Gly) c.1790C>G (p.Ala597Gly) c.1592C>G (p.Ala531Gly) c.746C>G (p.Ala249Gly) c.701C>G (p.Ala234Gly) c.533C>G (p.Ala178Gly) c.407C>G (p.Ala136Gly) n.1999C>G | |
12 | g.32611243C>T | CA384361177 | FGD4 | c.1298C>T (p.Ala433Val) c.1553C>T (p.Ala518Val) c.1019C>T (p.Ala340Val) c.110C>T (p.Ala37Val) n.805C>T c.1709C>T (p.Ala570Val) c.*690C>T (n.*690C>T) c.*709C>T (n.*709C>T) c.887C>T c.1634C>T (p.Ala545Val) c.*667C>T (n.*667C>T) c.554C>T (p.Ala185Val) c.266C>T (p.Ala89Val) c.1790C>T (p.Ala597Val) c.1592C>T (p.Ala531Val) c.746C>T (p.Ala249Val) c.701C>T (p.Ala234Val) c.533C>T (p.Ala178Val) c.407C>T (p.Ala136Val) n.1999C>T | |
12 | g.32611244T>A | CA479167881 | FGD4 | c.1299T>A (p.Ala433=) c.1554T>A (p.Ala518=) c.1020T>A (p.Ala340=) c.111T>A (p.Ala37=) n.806T>A c.1710T>A (p.Ala570=) c.*691T>A (n.*691T>A) c.*710T>A (n.*710T>A) c.888T>A c.1635T>A (p.Ala545=) c.*668T>A (n.*668T>A) c.555T>A (p.Ala185=) c.267T>A (p.Ala89=) c.1791T>A (p.Ala597=) c.1593T>A (p.Ala531=) c.747T>A (p.Ala249=) c.702T>A (p.Ala234=) c.534T>A (p.Ala178=) c.408T>A (p.Ala136=) n.2000T>A | |
12 | g.32611244T>C | CA479167882 | FGD4 | c.1299T>C (p.Ala433=) c.1554T>C (p.Ala518=) c.1020T>C (p.Ala340=) c.111T>C (p.Ala37=) n.806T>C c.1710T>C (p.Ala570=) c.*691T>C (n.*691T>C) c.*710T>C (n.*710T>C) c.888T>C c.1635T>C (p.Ala545=) c.*668T>C (n.*668T>C) c.555T>C (p.Ala185=) c.267T>C (p.Ala89=) c.1791T>C (p.Ala597=) c.1593T>C (p.Ala531=) c.747T>C (p.Ala249=) c.702T>C (p.Ala234=) c.534T>C (p.Ala178=) c.408T>C (p.Ala136=) n.2000T>C | dbSNP |
12 | g.32611244T>G | CA479167883 | FGD4 | c.1299T>G (p.Ala433=) c.1554T>G (p.Ala518=) c.1020T>G (p.Ala340=) c.111T>G (p.Ala37=) n.806T>G c.1710T>G (p.Ala570=) c.*691T>G (n.*691T>G) c.*710T>G (n.*710T>G) c.888T>G c.1635T>G (p.Ala545=) c.*668T>G (n.*668T>G) c.555T>G (p.Ala185=) c.267T>G (p.Ala89=) c.1791T>G (p.Ala597=) c.1593T>G (p.Ala531=) c.747T>G (p.Ala249=) c.702T>G (p.Ala234=) c.534T>G (p.Ala178=) c.408T>G (p.Ala136=) n.2000T>G | |
12 | g.32611244T= | CA2026267810 | FGD4 | c.1299T= (p.Ala433=) c.1554T= (p.Ala518=) c.1020T= (p.Ala340=) c.111T= (p.Ala37=) n.806T= c.1710T= (p.Ala570=) c.*691T= (n.*691T=) c.*710T= (n.*710T=) c.888T= c.1635T= (p.Ala545=) c.*668T= (n.*668T=) c.555T= (p.Ala185=) c.267T= (p.Ala89=) c.1791T= (p.Ala597=) c.1593T= (p.Ala531=) c.747T= (p.Ala249=) c.702T= (p.Ala234=) c.534T= (p.Ala178=) c.408T= (p.Ala136=) n.2000T= | |
12 | g.32611245G>A | CA384361179 | FGD4 | c.1300G>A (p.Ala434Thr) c.1555G>A (p.Ala519Thr) c.1021G>A (p.Ala341Thr) c.112G>A (p.Ala38Thr) n.807G>A c.1711G>A (p.Ala571Thr) c.*692G>A (n.*692G>A) c.*711G>A (n.*711G>A) c.889G>A c.1636G>A (p.Ala546Thr) c.*669G>A (n.*669G>A) c.556G>A (p.Ala186Thr) c.268G>A (p.Ala90Thr) c.1792G>A (p.Ala598Thr) c.1594G>A (p.Ala532Thr) c.748G>A (p.Ala250Thr) c.703G>A (p.Ala235Thr) c.535G>A (p.Ala179Thr) c.409G>A (p.Ala137Thr) n.2001G>A | |
12 | g.32611245G>C | CA384361180 | FGD4 | c.1300G>C (p.Ala434Pro) c.1555G>C (p.Ala519Pro) c.1021G>C (p.Ala341Pro) c.112G>C (p.Ala38Pro) n.807G>C c.1711G>C (p.Ala571Pro) c.*692G>C (n.*692G>C) c.*711G>C (n.*711G>C) c.889G>C c.1636G>C (p.Ala546Pro) c.*669G>C (n.*669G>C) c.556G>C (p.Ala186Pro) c.268G>C (p.Ala90Pro) c.1792G>C (p.Ala598Pro) c.1594G>C (p.Ala532Pro) c.748G>C (p.Ala250Pro) c.703G>C (p.Ala235Pro) c.535G>C (p.Ala179Pro) c.409G>C (p.Ala137Pro) n.2001G>C | gnomAD v4 |
12 | g.32611245G>T | CA384361181 | FGD4 | c.1300G>T (p.Ala434Ser) c.1555G>T (p.Ala519Ser) c.1021G>T (p.Ala341Ser) c.112G>T (p.Ala38Ser) n.807G>T c.1711G>T (p.Ala571Ser) c.*692G>T (n.*692G>T) c.*711G>T (n.*711G>T) c.889G>T c.1636G>T (p.Ala546Ser) c.*669G>T (n.*669G>T) c.556G>T (p.Ala186Ser) c.268G>T (p.Ala90Ser) c.1792G>T (p.Ala598Ser) c.1594G>T (p.Ala532Ser) c.748G>T (p.Ala250Ser) c.703G>T (p.Ala235Ser) c.535G>T (p.Ala179Ser) c.409G>T (p.Ala137Ser) n.2001G>T | |
12 | g.32611246C>A | CA384361182 | FGD4 | c.1301C>A (p.Ala434Asp) c.1556C>A (p.Ala519Asp) c.1022C>A (p.Ala341Asp) c.113C>A (p.Ala38Asp) n.808C>A c.1712C>A (p.Ala571Asp) c.*693C>A (n.*693C>A) c.*712C>A (n.*712C>A) c.890C>A c.1637C>A (p.Ala546Asp) c.*670C>A (n.*670C>A) c.557C>A (p.Ala186Asp) c.269C>A (p.Ala90Asp) c.1793C>A (p.Ala598Asp) c.1595C>A (p.Ala532Asp) c.749C>A (p.Ala250Asp) c.704C>A (p.Ala235Asp) c.536C>A (p.Ala179Asp) c.410C>A (p.Ala137Asp) n.2002C>A | |
12 | g.32611246C= | CA2026267811 | FGD4 | c.1301C= (p.Ala434=) c.1556C= (p.Ala519=) c.1022C= (p.Ala341=) c.113C= (p.Ala38=) n.808C= c.1712C= (p.Ala571=) c.*693C= (n.*693C=) c.*712C= (n.*712C=) c.890C= c.1637C= (p.Ala546=) c.*670C= (n.*670C=) c.557C= (p.Ala186=) c.269C= (p.Ala90=) c.1793C= (p.Ala598=) c.1595C= (p.Ala532=) c.749C= (p.Ala250=) c.704C= (p.Ala235=) c.536C= (p.Ala179=) c.410C= (p.Ala137=) n.2002C= | |
12 | g.32611246C>G | CA384361183 | FGD4 | c.1301C>G (p.Ala434Gly) c.1556C>G (p.Ala519Gly) c.1022C>G (p.Ala341Gly) c.113C>G (p.Ala38Gly) n.808C>G c.1712C>G (p.Ala571Gly) c.*693C>G (n.*693C>G) c.*712C>G (n.*712C>G) c.890C>G c.1637C>G (p.Ala546Gly) c.*670C>G (n.*670C>G) c.557C>G (p.Ala186Gly) c.269C>G (p.Ala90Gly) c.1793C>G (p.Ala598Gly) c.1595C>G (p.Ala532Gly) c.749C>G (p.Ala250Gly) c.704C>G (p.Ala235Gly) c.536C>G (p.Ala179Gly) c.410C>G (p.Ala137Gly) n.2002C>G | dbSNP |
12 | g.32611246C>T | CA384361184 | FGD4 | c.1301C>T (p.Ala434Val) c.1556C>T (p.Ala519Val) c.1022C>T (p.Ala341Val) c.113C>T (p.Ala38Val) n.808C>T c.1712C>T (p.Ala571Val) c.*693C>T (n.*693C>T) c.*712C>T (n.*712C>T) c.890C>T c.1637C>T (p.Ala546Val) c.*670C>T (n.*670C>T) c.557C>T (p.Ala186Val) c.269C>T (p.Ala90Val) c.1793C>T (p.Ala598Val) c.1595C>T (p.Ala532Val) c.749C>T (p.Ala250Val) c.704C>T (p.Ala235Val) c.536C>T (p.Ala179Val) c.410C>T (p.Ala137Val) n.2002C>T | |
12 | g.32611247T>A | CA479167884 | FGD4 | c.1302T>A (p.Ala434=) c.1557T>A (p.Ala519=) c.1023T>A (p.Ala341=) c.114T>A (p.Ala38=) n.809T>A c.1713T>A (p.Ala571=) c.*694T>A (n.*694T>A) c.*713T>A (n.*713T>A) c.891T>A c.1638T>A (p.Ala546=) c.*671T>A (n.*671T>A) c.558T>A (p.Ala186=) c.270T>A (p.Ala90=) c.1794T>A (p.Ala598=) c.1596T>A (p.Ala532=) c.750T>A (p.Ala250=) c.705T>A (p.Ala235=) c.537T>A (p.Ala179=) c.411T>A (p.Ala137=) n.2003T>A | |
12 | g.32611247T>C | CA479167885 | FGD4 | c.1302T>C (p.Ala434=) c.1557T>C (p.Ala519=) c.1023T>C (p.Ala341=) c.114T>C (p.Ala38=) n.809T>C c.1713T>C (p.Ala571=) c.*694T>C (n.*694T>C) c.*713T>C (n.*713T>C) c.891T>C c.1638T>C (p.Ala546=) c.*671T>C (n.*671T>C) c.558T>C (p.Ala186=) c.270T>C (p.Ala90=) c.1794T>C (p.Ala598=) c.1596T>C (p.Ala532=) c.750T>C (p.Ala250=) c.705T>C (p.Ala235=) c.537T>C (p.Ala179=) c.411T>C (p.Ala137=) n.2003T>C | |
12 | g.32611247T>G | CA479167886 | FGD4 | c.1302T>G (p.Ala434=) c.1557T>G (p.Ala519=) c.1023T>G (p.Ala341=) c.114T>G (p.Ala38=) n.809T>G c.1713T>G (p.Ala571=) c.*694T>G (n.*694T>G) c.*713T>G (n.*713T>G) c.891T>G c.1638T>G (p.Ala546=) c.*671T>G (n.*671T>G) c.558T>G (p.Ala186=) c.270T>G (p.Ala90=) c.1794T>G (p.Ala598=) c.1596T>G (p.Ala532=) c.750T>G (p.Ala250=) c.705T>G (p.Ala235=) c.537T>G (p.Ala179=) c.411T>G (p.Ala137=) n.2003T>G | gnomAD v3 gnomAD v4 |
12 | g.32611248C>A | CA479167887 | FGD4 | c.1303C>A (p.Arg435=) c.1558C>A (p.Arg520=) c.1024C>A (p.Arg342=) c.115C>A (p.Arg39=) n.810C>A c.1714C>A (p.Arg572=) c.*695C>A (n.*695C>A) c.*714C>A (n.*714C>A) c.892C>A c.1639C>A (p.Arg547=) c.*672C>A (n.*672C>A) c.559C>A (p.Arg187=) c.271C>A (p.Arg91=) c.1795C>A (p.Arg599=) c.1597C>A (p.Arg533=) c.751C>A (p.Arg251=) c.706C>A (p.Arg236=) c.538C>A (p.Arg180=) c.412C>A (p.Arg138=) n.2004C>A | gnomAD v4 |
12 | g.32611248C= | CA2026267812 | FGD4 | c.1303C= (p.Arg435=) c.1558C= (p.Arg520=) c.1024C= (p.Arg342=) c.115C= (p.Arg39=) n.810C= c.1714C= (p.Arg572=) c.*695C= (n.*695C=) c.*714C= (n.*714C=) c.892C= c.1639C= (p.Arg547=) c.*672C= (n.*672C=) c.559C= (p.Arg187=) c.271C= (p.Arg91=) c.1795C= (p.Arg599=) c.1597C= (p.Arg533=) c.751C= (p.Arg251=) c.706C= (p.Arg236=) c.538C= (p.Arg180=) c.412C= (p.Arg138=) n.2004C= | |
12 | g.32611248C>G | CA384361185 | FGD4 | c.1303C>G (p.Arg435Gly) c.1558C>G (p.Arg520Gly) c.1024C>G (p.Arg342Gly) c.115C>G (p.Arg39Gly) n.810C>G c.1714C>G (p.Arg572Gly) c.*695C>G (n.*695C>G) c.*714C>G (n.*714C>G) c.892C>G c.1639C>G (p.Arg547Gly) c.*672C>G (n.*672C>G) c.559C>G (p.Arg187Gly) c.271C>G (p.Arg91Gly) c.1795C>G (p.Arg599Gly) c.1597C>G (p.Arg533Gly) c.751C>G (p.Arg251Gly) c.706C>G (p.Arg236Gly) c.538C>G (p.Arg180Gly) c.412C>G (p.Arg138Gly) n.2004C>G | |
12 | g.32611248C>T | CA235216113 | FGD4 | c.1303C>T (p.Arg435Trp) c.1558C>T (p.Arg520Trp) c.1024C>T (p.Arg342Trp) c.115C>T (p.Arg39Trp) n.810C>T c.1714C>T (p.Arg572Trp) c.*695C>T (n.*695C>T) c.*714C>T (n.*714C>T) c.892C>T c.1639C>T (p.Arg547Trp) c.*672C>T (n.*672C>T) c.559C>T (p.Arg187Trp) c.271C>T (p.Arg91Trp) c.1795C>T (p.Arg599Trp) c.1597C>T (p.Arg533Trp) c.751C>T (p.Arg251Trp) c.706C>T (p.Arg236Trp) c.538C>T (p.Arg180Trp) c.412C>T (p.Arg138Trp) n.2004C>T | dbSNP gnomAD v4 COSMIC |
12 | g.32611249G>A | CA6506859 | FGD4 | c.1304G>A (p.Arg435Gln) c.1559G>A (p.Arg520Gln) c.1025G>A (p.Arg342Gln) c.116G>A (p.Arg39Gln) n.811G>A c.1715G>A (p.Arg572Gln) c.*696G>A (n.*696G>A) c.*715G>A (n.*715G>A) c.893G>A c.1640G>A (p.Arg547Gln) c.*673G>A (n.*673G>A) c.560G>A (p.Arg187Gln) c.272G>A (p.Arg91Gln) c.1796G>A (p.Arg599Gln) c.1598G>A (p.Arg533Gln) c.752G>A (p.Arg251Gln) c.707G>A (p.Arg236Gln) c.539G>A (p.Arg180Gln) c.413G>A (p.Arg138Gln) n.2005G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.32611249G>C | CA384361186 | FGD4 | c.1304G>C (p.Arg435Pro) c.1559G>C (p.Arg520Pro) c.1025G>C (p.Arg342Pro) c.116G>C (p.Arg39Pro) n.811G>C c.1715G>C (p.Arg572Pro) c.*696G>C (n.*696G>C) c.*715G>C (n.*715G>C) c.893G>C c.1640G>C (p.Arg547Pro) c.*673G>C (n.*673G>C) c.560G>C (p.Arg187Pro) c.272G>C (p.Arg91Pro) c.1796G>C (p.Arg599Pro) c.1598G>C (p.Arg533Pro) c.752G>C (p.Arg251Pro) c.707G>C (p.Arg236Pro) c.539G>C (p.Arg180Pro) c.413G>C (p.Arg138Pro) n.2005G>C | |
12 | g.32611249G= | CA2026267813 | FGD4 | c.1304G= (p.Arg435=) c.1559G= (p.Arg520=) c.1025G= (p.Arg342=) c.116G= (p.Arg39=) n.811G= c.1715G= (p.Arg572=) c.*696G= (n.*696G=) c.*715G= (n.*715G=) c.893G= c.1640G= (p.Arg547=) c.*673G= (n.*673G=) c.560G= (p.Arg187=) c.272G= (p.Arg91=) c.1796G= (p.Arg599=) c.1598G= (p.Arg533=) c.752G= (p.Arg251=) c.707G= (p.Arg236=) c.539G= (p.Arg180=) c.413G= (p.Arg138=) n.2005G= | |
12 | g.32611249G>T | CA384361187 | FGD4 | c.1304G>T (p.Arg435Leu) c.1559G>T (p.Arg520Leu) c.1025G>T (p.Arg342Leu) c.116G>T (p.Arg39Leu) n.811G>T c.1715G>T (p.Arg572Leu) c.*696G>T (n.*696G>T) c.*715G>T (n.*715G>T) c.893G>T c.1640G>T (p.Arg547Leu) c.*673G>T (n.*673G>T) c.560G>T (p.Arg187Leu) c.272G>T (p.Arg91Leu) c.1796G>T (p.Arg599Leu) c.1598G>T (p.Arg533Leu) c.752G>T (p.Arg251Leu) c.707G>T (p.Arg236Leu) c.539G>T (p.Arg180Leu) c.413G>T (p.Arg138Leu) n.2005G>T | |
12 | g.32611249_32611250delinsAA | CA2695216222 | FGD4 | c.1304_1305delinsAA (p.Arg435Gln) c.1559_1560delinsAA (p.Arg520Gln) c.1025_1026delinsAA (p.Arg342Gln) c.116_117delinsAA (p.Arg39Gln) n.811_812delinsAA c.1715_1716delinsAA (p.Arg572Gln) c.*696_*697delinsAA (n.*696_*697delinsAA) c.*715_*716delinsAA (n.*715_*716delinsAA) c.893_894delinsAA c.1640_1641delinsAA (p.Arg547Gln) c.*673_*674delinsAA (n.*673_*674delinsAA) c.560_561delinsAA (p.Arg187Gln) c.272_273delinsAA (p.Arg91Gln) c.1796_1797delinsAA (p.Arg599Gln) c.1598_1599delinsAA (p.Arg533Gln) c.752_753delinsAA (p.Arg251Gln) c.707_708delinsAA (p.Arg236Gln) c.539_540delinsAA (p.Arg180Gln) c.413_414delinsAA (p.Arg138Gln) n.2005_2006delinsAA | |
12 | g.32611250G>A | CA290926 | FGD4 | c.1305G>A (p.Arg435=) c.1560G>A (p.Arg520=) c.1026G>A (p.Arg342=) c.117G>A (p.Arg39=) n.812G>A c.1716G>A (p.Arg572=) c.*697G>A (n.*697G>A) c.*716G>A (n.*716G>A) c.894G>A c.1641G>A (p.Arg547=) c.*674G>A (n.*674G>A) c.561G>A (p.Arg187=) c.273G>A (p.Arg91=) c.1797G>A (p.Arg599=) c.1599G>A (p.Arg533=) c.753G>A (p.Arg251=) c.708G>A (p.Arg236=) c.540G>A (p.Arg180=) c.414G>A (p.Arg138=) n.2006G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.32611250G>C | CA479167888 | FGD4 | c.1305G>C (p.Arg435=) c.1560G>C (p.Arg520=) c.1026G>C (p.Arg342=) c.117G>C (p.Arg39=) n.812G>C c.1716G>C (p.Arg572=) c.*697G>C (n.*697G>C) c.*716G>C (n.*716G>C) c.894G>C c.1641G>C (p.Arg547=) c.*674G>C (n.*674G>C) c.561G>C (p.Arg187=) c.273G>C (p.Arg91=) c.1797G>C (p.Arg599=) c.1599G>C (p.Arg533=) c.753G>C (p.Arg251=) c.708G>C (p.Arg236=) c.540G>C (p.Arg180=) c.414G>C (p.Arg138=) n.2006G>C | |
12 | g.32611250G= | CA2026267814 | FGD4 | c.1305G= (p.Arg435=) c.1560G= (p.Arg520=) c.1026G= (p.Arg342=) c.117G= (p.Arg39=) n.812G= c.1716G= (p.Arg572=) c.*697G= (n.*697G=) c.*716G= (n.*716G=) c.894G= c.1641G= (p.Arg547=) c.*674G= (n.*674G=) c.561G= (p.Arg187=) c.273G= (p.Arg91=) c.1797G= (p.Arg599=) c.1599G= (p.Arg533=) c.753G= (p.Arg251=) c.708G= (p.Arg236=) c.540G= (p.Arg180=) c.414G= (p.Arg138=) n.2006G= | |
12 | g.32611250G>T | CA479167889 | FGD4 | c.1305G>T (p.Arg435=) c.1560G>T (p.Arg520=) c.1026G>T (p.Arg342=) c.117G>T (p.Arg39=) n.812G>T c.1716G>T (p.Arg572=) c.*697G>T (n.*697G>T) c.*716G>T (n.*716G>T) c.894G>T c.1641G>T (p.Arg547=) c.*674G>T (n.*674G>T) c.561G>T (p.Arg187=) c.273G>T (p.Arg91=) c.1797G>T (p.Arg599=) c.1599G>T (p.Arg533=) c.753G>T (p.Arg251=) c.708G>T (p.Arg236=) c.540G>T (p.Arg180=) c.414G>T (p.Arg138=) n.2006G>T | |
12 | g.32611251A= | CA2026267815 | FGD4 | c.1306A= (p.Asn436=) c.1561A= (p.Asn521=) c.1027A= (p.Asn343=) c.118A= (p.Asn40=) n.813A= c.1717A= (p.Asn573=) c.*698A= (n.*698A=) c.*717A= (n.*717A=) c.895A= c.1642A= (p.Asn548=) c.*675A= (n.*675A=) c.562A= (p.Asn188=) c.274A= (p.Asn92=) c.1798A= (p.Asn600=) c.1600A= (p.Asn534=) c.754A= (p.Asn252=) c.709A= (p.Asn237=) c.541A= (p.Asn181=) c.415A= (p.Asn139=) n.2007A= | |
12 | g.32611251A>C | CA384361188 | FGD4 | c.1306A>C (p.Asn436His) c.1561A>C (p.Asn521His) c.1027A>C (p.Asn343His) c.118A>C (p.Asn40His) n.813A>C c.1717A>C (p.Asn573His) c.*698A>C (n.*698A>C) c.*717A>C (n.*717A>C) c.895A>C c.1642A>C (p.Asn548His) c.*675A>C (n.*675A>C) c.562A>C (p.Asn188His) c.274A>C (p.Asn92His) c.1798A>C (p.Asn600His) c.1600A>C (p.Asn534His) c.754A>C (p.Asn252His) c.709A>C (p.Asn237His) c.541A>C (p.Asn181His) c.415A>C (p.Asn139His) n.2007A>C | |
12 | g.32611251A>G | CA384361190 | FGD4 | c.1306A>G (p.Asn436Asp) c.1561A>G (p.Asn521Asp) c.1027A>G (p.Asn343Asp) c.118A>G (p.Asn40Asp) n.813A>G c.1717A>G (p.Asn573Asp) c.*698A>G (n.*698A>G) c.*717A>G (n.*717A>G) c.895A>G c.1642A>G (p.Asn548Asp) c.*675A>G (n.*675A>G) c.562A>G (p.Asn188Asp) c.274A>G (p.Asn92Asp) c.1798A>G (p.Asn600Asp) c.1600A>G (p.Asn534Asp) c.754A>G (p.Asn252Asp) c.709A>G (p.Asn237Asp) c.541A>G (p.Asn181Asp) c.415A>G (p.Asn139Asp) n.2007A>G | dbSNP |
12 | g.32611251A>T | CA384361189 | FGD4 | c.1306A>T (p.Asn436Tyr) c.1561A>T (p.Asn521Tyr) c.1027A>T (p.Asn343Tyr) c.118A>T (p.Asn40Tyr) n.813A>T c.1717A>T (p.Asn573Tyr) c.*698A>T (n.*698A>T) c.*717A>T (n.*717A>T) c.895A>T c.1642A>T (p.Asn548Tyr) c.*675A>T (n.*675A>T) c.562A>T (p.Asn188Tyr) c.274A>T (p.Asn92Tyr) c.1798A>T (p.Asn600Tyr) c.1600A>T (p.Asn534Tyr) c.754A>T (p.Asn252Tyr) c.709A>T (p.Asn237Tyr) c.541A>T (p.Asn181Tyr) c.415A>T (p.Asn139Tyr) n.2007A>T | |
12 | g.32611252A>C | CA384361191 | FGD4 | c.1307A>C (p.Asn436Thr) c.1562A>C (p.Asn521Thr) c.1028A>C (p.Asn343Thr) c.119A>C (p.Asn40Thr) n.814A>C c.1718A>C (p.Asn573Thr) c.*699A>C (n.*699A>C) c.*718A>C (n.*718A>C) c.896A>C c.1643A>C (p.Asn548Thr) c.*676A>C (n.*676A>C) c.563A>C (p.Asn188Thr) c.275A>C (p.Asn92Thr) c.1799A>C (p.Asn600Thr) c.1601A>C (p.Asn534Thr) c.755A>C (p.Asn252Thr) c.710A>C (p.Asn237Thr) c.542A>C (p.Asn181Thr) c.416A>C (p.Asn139Thr) n.2008A>C | gnomAD v4 |
12 | g.32611252A>G | CA384361193 | FGD4 | c.1307A>G (p.Asn436Ser) c.1562A>G (p.Asn521Ser) c.1028A>G (p.Asn343Ser) c.119A>G (p.Asn40Ser) n.814A>G c.1718A>G (p.Asn573Ser) c.*699A>G (n.*699A>G) c.*718A>G (n.*718A>G) c.896A>G c.1643A>G (p.Asn548Ser) c.*676A>G (n.*676A>G) c.563A>G (p.Asn188Ser) c.275A>G (p.Asn92Ser) c.1799A>G (p.Asn600Ser) c.1601A>G (p.Asn534Ser) c.755A>G (p.Asn252Ser) c.710A>G (p.Asn237Ser) c.542A>G (p.Asn181Ser) c.416A>G (p.Asn139Ser) n.2008A>G | |
12 | g.32611252A>T | CA384361192 | FGD4 | c.1307A>T (p.Asn436Ile) c.1562A>T (p.Asn521Ile) c.1028A>T (p.Asn343Ile) c.119A>T (p.Asn40Ile) n.814A>T c.1718A>T (p.Asn573Ile) c.*699A>T (n.*699A>T) c.*718A>T (n.*718A>T) c.896A>T c.1643A>T (p.Asn548Ile) c.*676A>T (n.*676A>T) c.563A>T (p.Asn188Ile) c.275A>T (p.Asn92Ile) c.1799A>T (p.Asn600Ile) c.1601A>T (p.Asn534Ile) c.755A>T (p.Asn252Ile) c.710A>T (p.Asn237Ile) c.542A>T (p.Asn181Ile) c.416A>T (p.Asn139Ile) n.2008A>T | |
12 | g.32611253C>A | CA384361194 | FGD4 | c.1308C>A (p.Asn436Lys) c.1563C>A (p.Asn521Lys) c.1029C>A (p.Asn343Lys) c.120C>A (p.Asn40Lys) n.815C>A c.1719C>A (p.Asn573Lys) c.*700C>A (n.*700C>A) c.*719C>A (n.*719C>A) c.897C>A c.1644C>A (p.Asn548Lys) c.*677C>A (n.*677C>A) c.564C>A (p.Asn188Lys) c.276C>A (p.Asn92Lys) c.1800C>A (p.Asn600Lys) c.1602C>A (p.Asn534Lys) c.756C>A (p.Asn252Lys) c.711C>A (p.Asn237Lys) c.543C>A (p.Asn181Lys) c.417C>A (p.Asn139Lys) n.2009C>A | |
12 | g.32611253C= | CA2026267816 | FGD4 | c.1308C= (p.Asn436=) c.1563C= (p.Asn521=) c.1029C= (p.Asn343=) c.120C= (p.Asn40=) n.815C= c.1719C= (p.Asn573=) c.*700C= (n.*700C=) c.*719C= (n.*719C=) c.897C= c.1644C= (p.Asn548=) c.*677C= (n.*677C=) c.564C= (p.Asn188=) c.276C= (p.Asn92=) c.1800C= (p.Asn600=) c.1602C= (p.Asn534=) c.756C= (p.Asn252=) c.711C= (p.Asn237=) c.543C= (p.Asn181=) c.417C= (p.Asn139=) n.2009C= | |
12 | g.32611253C>G | CA384361195 | FGD4 | c.1308C>G (p.Asn436Lys) c.1563C>G (p.Asn521Lys) c.1029C>G (p.Asn343Lys) c.120C>G (p.Asn40Lys) n.815C>G c.1719C>G (p.Asn573Lys) c.*700C>G (n.*700C>G) c.*719C>G (n.*719C>G) c.897C>G c.1644C>G (p.Asn548Lys) c.*677C>G (n.*677C>G) c.564C>G (p.Asn188Lys) c.276C>G (p.Asn92Lys) c.1800C>G (p.Asn600Lys) c.1602C>G (p.Asn534Lys) c.756C>G (p.Asn252Lys) c.711C>G (p.Asn237Lys) c.543C>G (p.Asn181Lys) c.417C>G (p.Asn139Lys) n.2009C>G | |
12 | g.32611253C>T | CA479167890 | FGD4 | c.1308C>T (p.Asn436=) c.1563C>T (p.Asn521=) c.1029C>T (p.Asn343=) c.120C>T (p.Asn40=) n.815C>T c.1719C>T (p.Asn573=) c.*700C>T (n.*700C>T) c.*719C>T (n.*719C>T) c.897C>T c.1644C>T (p.Asn548=) c.*677C>T (n.*677C>T) c.564C>T (p.Asn188=) c.276C>T (p.Asn92=) c.1800C>T (p.Asn600=) c.1602C>T (p.Asn534=) c.756C>T (p.Asn252=) c.711C>T (p.Asn237=) c.543C>T (p.Asn181=) c.417C>T (p.Asn139=) n.2009C>T | dbSNP gnomAD v2 |
12 | g.32611254A>C | CA384361196 | FGD4 | c.1309A>C (p.Thr437Pro) c.1564A>C (p.Thr522Pro) c.1030A>C (p.Thr344Pro) c.121A>C (p.Thr41Pro) n.816A>C c.1720A>C (p.Thr574Pro) c.*701A>C (n.*701A>C) c.*720A>C (n.*720A>C) c.898A>C c.1645A>C (p.Thr549Pro) c.*678A>C (n.*678A>C) c.565A>C (p.Thr189Pro) c.277A>C (p.Thr93Pro) c.1801A>C (p.Thr601Pro) c.1603A>C (p.Thr535Pro) c.757A>C (p.Thr253Pro) c.712A>C (p.Thr238Pro) c.544A>C (p.Thr182Pro) c.418A>C (p.Thr140Pro) n.2010A>C | |
12 | g.32611254A>G | CA384361197 | FGD4 | c.1309A>G (p.Thr437Ala) c.1564A>G (p.Thr522Ala) c.1030A>G (p.Thr344Ala) c.121A>G (p.Thr41Ala) n.816A>G c.1720A>G (p.Thr574Ala) c.*701A>G (n.*701A>G) c.*720A>G (n.*720A>G) c.898A>G c.1645A>G (p.Thr549Ala) c.*678A>G (n.*678A>G) c.565A>G (p.Thr189Ala) c.277A>G (p.Thr93Ala) c.1801A>G (p.Thr601Ala) c.1603A>G (p.Thr535Ala) c.757A>G (p.Thr253Ala) c.712A>G (p.Thr238Ala) c.544A>G (p.Thr182Ala) c.418A>G (p.Thr140Ala) n.2010A>G | |
12 | g.32611254A>T | CA384361198 | FGD4 | c.1309A>T (p.Thr437Ser) c.1564A>T (p.Thr522Ser) c.1030A>T (p.Thr344Ser) c.121A>T (p.Thr41Ser) n.816A>T c.1720A>T (p.Thr574Ser) c.*701A>T (n.*701A>T) c.*720A>T (n.*720A>T) c.898A>T c.1645A>T (p.Thr549Ser) c.*678A>T (n.*678A>T) c.565A>T (p.Thr189Ser) c.277A>T (p.Thr93Ser) c.1801A>T (p.Thr601Ser) c.1603A>T (p.Thr535Ser) c.757A>T (p.Thr253Ser) c.712A>T (p.Thr238Ser) c.544A>T (p.Thr182Ser) c.418A>T (p.Thr140Ser) n.2010A>T | |
12 | g.32611255C>A | CA384361199 | FGD4 | c.1310C>A (p.Thr437Asn) c.1565C>A (p.Thr522Asn) c.1031C>A (p.Thr344Asn) c.122C>A (p.Thr41Asn) n.817C>A c.1721C>A (p.Thr574Asn) c.*702C>A (n.*702C>A) c.*721C>A (n.*721C>A) c.899C>A c.1646C>A (p.Thr549Asn) c.*679C>A (n.*679C>A) c.566C>A (p.Thr189Asn) c.278C>A (p.Thr93Asn) c.1802C>A (p.Thr601Asn) c.1604C>A (p.Thr535Asn) c.758C>A (p.Thr253Asn) c.713C>A (p.Thr238Asn) c.545C>A (p.Thr182Asn) c.419C>A (p.Thr140Asn) n.2011C>A | |
12 | g.32611255C>G | CA384361200 | FGD4 | c.1310C>G (p.Thr437Ser) c.1565C>G (p.Thr522Ser) c.1031C>G (p.Thr344Ser) c.122C>G (p.Thr41Ser) n.817C>G c.1721C>G (p.Thr574Ser) c.*702C>G (n.*702C>G) c.*721C>G (n.*721C>G) c.899C>G c.1646C>G (p.Thr549Ser) c.*679C>G (n.*679C>G) c.566C>G (p.Thr189Ser) c.278C>G (p.Thr93Ser) c.1802C>G (p.Thr601Ser) c.1604C>G (p.Thr535Ser) c.758C>G (p.Thr253Ser) c.713C>G (p.Thr238Ser) c.545C>G (p.Thr182Ser) c.419C>G (p.Thr140Ser) n.2011C>G | gnomAD v4 |
12 | g.32611255C>T | CA384361201 | FGD4 | c.1310C>T (p.Thr437Ile) c.1565C>T (p.Thr522Ile) c.1031C>T (p.Thr344Ile) c.122C>T (p.Thr41Ile) n.817C>T c.1721C>T (p.Thr574Ile) c.*702C>T (n.*702C>T) c.*721C>T (n.*721C>T) c.899C>T c.1646C>T (p.Thr549Ile) c.*679C>T (n.*679C>T) c.566C>T (p.Thr189Ile) c.278C>T (p.Thr93Ile) c.1802C>T (p.Thr601Ile) c.1604C>T (p.Thr535Ile) c.758C>T (p.Thr253Ile) c.713C>T (p.Thr238Ile) c.545C>T (p.Thr182Ile) c.419C>T (p.Thr140Ile) n.2011C>T | |
12 | g.32611256T>A | CA479167893 | FGD4 | c.1311T>A (p.Thr437=) c.1566T>A (p.Thr522=) c.1032T>A (p.Thr344=) c.123T>A (p.Thr41=) n.818T>A c.1722T>A (p.Thr574=) c.*703T>A (n.*703T>A) c.*722T>A (n.*722T>A) c.900T>A c.1647T>A (p.Thr549=) c.*680T>A (n.*680T>A) c.567T>A (p.Thr189=) c.279T>A (p.Thr93=) c.1803T>A (p.Thr601=) c.1605T>A (p.Thr535=) c.759T>A (p.Thr253=) c.714T>A (p.Thr238=) c.546T>A (p.Thr182=) c.420T>A (p.Thr140=) n.2012T>A | |
12 | g.32611256T>C | CA479167892 | FGD4 | c.1311T>C (p.Thr437=) c.1566T>C (p.Thr522=) c.1032T>C (p.Thr344=) c.123T>C (p.Thr41=) n.818T>C c.1722T>C (p.Thr574=) c.*703T>C (n.*703T>C) c.*722T>C (n.*722T>C) c.900T>C c.1647T>C (p.Thr549=) c.*680T>C (n.*680T>C) c.567T>C (p.Thr189=) c.279T>C (p.Thr93=) c.1803T>C (p.Thr601=) c.1605T>C (p.Thr535=) c.759T>C (p.Thr253=) c.714T>C (p.Thr238=) c.546T>C (p.Thr182=) c.420T>C (p.Thr140=) n.2012T>C | |
12 | g.32611256T>G | CA479167891 | FGD4 | c.1311T>G (p.Thr437=) c.1566T>G (p.Thr522=) c.1032T>G (p.Thr344=) c.123T>G (p.Thr41=) n.818T>G c.1722T>G (p.Thr574=) c.*703T>G (n.*703T>G) c.*722T>G (n.*722T>G) c.900T>G c.1647T>G (p.Thr549=) c.*680T>G (n.*680T>G) c.567T>G (p.Thr189=) c.279T>G (p.Thr93=) c.1803T>G (p.Thr601=) c.1605T>G (p.Thr535=) c.759T>G (p.Thr253=) c.714T>G (p.Thr238=) c.546T>G (p.Thr182=) c.420T>G (p.Thr140=) n.2012T>G | gnomAD v4 |
12 | g.32611257T>A | CA384361202 | FGD4 | c.1312T>A (p.Ser438Thr) c.1567T>A (p.Ser523Thr) c.1033T>A (p.Ser345Thr) c.124T>A (p.Ser42Thr) n.819T>A c.1723T>A (p.Ser575Thr) c.*704T>A (n.*704T>A) c.*723T>A (n.*723T>A) c.901T>A c.1648T>A (p.Ser550Thr) c.*681T>A (n.*681T>A) c.568T>A (p.Ser190Thr) c.280T>A (p.Ser94Thr) c.1804T>A (p.Ser602Thr) c.1606T>A (p.Ser536Thr) c.760T>A (p.Ser254Thr) c.715T>A (p.Ser239Thr) c.547T>A (p.Ser183Thr) c.421T>A (p.Ser141Thr) n.2013T>A | |
12 | g.32611257T>C | CA384361203 | FGD4 | c.1312T>C (p.Ser438Pro) c.1567T>C (p.Ser523Pro) c.1033T>C (p.Ser345Pro) c.124T>C (p.Ser42Pro) n.819T>C c.1723T>C (p.Ser575Pro) c.*704T>C (n.*704T>C) c.*723T>C (n.*723T>C) c.901T>C c.1648T>C (p.Ser550Pro) c.*681T>C (n.*681T>C) c.568T>C (p.Ser190Pro) c.280T>C (p.Ser94Pro) c.1804T>C (p.Ser602Pro) c.1606T>C (p.Ser536Pro) c.760T>C (p.Ser254Pro) c.715T>C (p.Ser239Pro) c.547T>C (p.Ser183Pro) c.421T>C (p.Ser141Pro) n.2013T>C | |
12 | g.32611257T>G | CA384361204 | FGD4 | c.1312T>G (p.Ser438Ala) c.1567T>G (p.Ser523Ala) c.1033T>G (p.Ser345Ala) c.124T>G (p.Ser42Ala) n.819T>G c.1723T>G (p.Ser575Ala) c.*704T>G (n.*704T>G) c.*723T>G (n.*723T>G) c.901T>G c.1648T>G (p.Ser550Ala) c.*681T>G (n.*681T>G) c.568T>G (p.Ser190Ala) c.280T>G (p.Ser94Ala) c.1804T>G (p.Ser602Ala) c.1606T>G (p.Ser536Ala) c.760T>G (p.Ser254Ala) c.715T>G (p.Ser239Ala) c.547T>G (p.Ser183Ala) c.421T>G (p.Ser141Ala) n.2013T>G | |
12 | g.32611258C>A | CA384361207 | FGD4 | c.1313C>A (p.Ser438Ter) c.1568C>A (p.Ser523Ter) c.1034C>A (p.Ser345Ter) c.125C>A (p.Ser42Ter) n.820C>A c.1724C>A (p.Ser575Ter) c.*705C>A (n.*705C>A) c.*724C>A (n.*724C>A) c.902C>A c.1649C>A (p.Ser550Ter) c.*682C>A (n.*682C>A) c.569C>A (p.Ser190Ter) c.281C>A (p.Ser94Ter) c.1805C>A (p.Ser602Ter) c.1607C>A (p.Ser536Ter) c.761C>A (p.Ser254Ter) c.716C>A (p.Ser239Ter) c.548C>A (p.Ser183Ter) c.422C>A (p.Ser141Ter) n.2014C>A | |
12 | g.32611258C>G | CA384361206 | FGD4 | c.1313C>G (p.Ser438Ter) c.1568C>G (p.Ser523Ter) c.1034C>G (p.Ser345Ter) c.125C>G (p.Ser42Ter) n.820C>G c.1724C>G (p.Ser575Ter) c.*705C>G (n.*705C>G) c.*724C>G (n.*724C>G) c.902C>G c.1649C>G (p.Ser550Ter) c.*682C>G (n.*682C>G) c.569C>G (p.Ser190Ter) c.281C>G (p.Ser94Ter) c.1805C>G (p.Ser602Ter) c.1607C>G (p.Ser536Ter) c.761C>G (p.Ser254Ter) c.716C>G (p.Ser239Ter) c.548C>G (p.Ser183Ter) c.422C>G (p.Ser141Ter) n.2014C>G | gnomAD v4 |
12 | g.32611258C>T | CA384361205 | FGD4 | c.1313C>T (p.Ser438Leu) c.1568C>T (p.Ser523Leu) c.1034C>T (p.Ser345Leu) c.125C>T (p.Ser42Leu) n.820C>T c.1724C>T (p.Ser575Leu) c.*705C>T (n.*705C>T) c.*724C>T (n.*724C>T) c.902C>T c.1649C>T (p.Ser550Leu) c.*682C>T (n.*682C>T) c.569C>T (p.Ser190Leu) c.281C>T (p.Ser94Leu) c.1805C>T (p.Ser602Leu) c.1607C>T (p.Ser536Leu) c.761C>T (p.Ser254Leu) c.716C>T (p.Ser239Leu) c.548C>T (p.Ser183Leu) c.422C>T (p.Ser141Leu) n.2014C>T | COSMIC COSMIC COSMIC |
12 | g.32611259A>C | CA479167896 | FGD4 | c.1314A>C (p.Ser438=) c.1569A>C (p.Ser523=) c.1035A>C (p.Ser345=) c.126A>C (p.Ser42=) n.821A>C c.1725A>C (p.Ser575=) c.*706A>C (n.*706A>C) c.*725A>C (n.*725A>C) c.903A>C c.1650A>C (p.Ser550=) c.*683A>C (n.*683A>C) c.570A>C (p.Ser190=) c.282A>C (p.Ser94=) c.1806A>C (p.Ser602=) c.1608A>C (p.Ser536=) c.762A>C (p.Ser254=) c.717A>C (p.Ser239=) c.549A>C (p.Ser183=) c.423A>C (p.Ser141=) n.2015A>C | |
12 | g.32611259A>G | CA479167895 | FGD4 | c.1314A>G (p.Ser438=) c.1569A>G (p.Ser523=) c.1035A>G (p.Ser345=) c.126A>G (p.Ser42=) n.821A>G c.1725A>G (p.Ser575=) c.*706A>G (n.*706A>G) c.*725A>G (n.*725A>G) c.903A>G c.1650A>G (p.Ser550=) c.*683A>G (n.*683A>G) c.570A>G (p.Ser190=) c.282A>G (p.Ser94=) c.1806A>G (p.Ser602=) c.1608A>G (p.Ser536=) c.762A>G (p.Ser254=) c.717A>G (p.Ser239=) c.549A>G (p.Ser183=) c.423A>G (p.Ser141=) n.2015A>G | gnomAD v3 gnomAD v4 |
12 | g.32611259A>T | CA479167894 | FGD4 | c.1314A>T (p.Ser438=) c.1569A>T (p.Ser523=) c.1035A>T (p.Ser345=) c.126A>T (p.Ser42=) n.821A>T c.1725A>T (p.Ser575=) c.*706A>T (n.*706A>T) c.*725A>T (n.*725A>T) c.903A>T c.1650A>T (p.Ser550=) c.*683A>T (n.*683A>T) c.570A>T (p.Ser190=) c.282A>T (p.Ser94=) c.1806A>T (p.Ser602=) c.1608A>T (p.Ser536=) c.762A>T (p.Ser254=) c.717A>T (p.Ser239=) c.549A>T (p.Ser183=) c.423A>T (p.Ser141=) n.2015A>T | |
12 | g.32611260G>A | CA384361208 | FGD4 | c.1315G>A (p.Ala439Thr) c.1570G>A (p.Ala524Thr) c.1036G>A (p.Ala346Thr) c.127G>A (p.Ala43Thr) n.822G>A c.1726G>A (p.Ala576Thr) c.*707G>A (n.*707G>A) c.*726G>A (n.*726G>A) c.904G>A c.1651G>A (p.Ala551Thr) c.*684G>A (n.*684G>A) c.571G>A (p.Ala191Thr) c.283G>A (p.Ala95Thr) c.1807G>A (p.Ala603Thr) c.1609G>A (p.Ala537Thr) c.763G>A (p.Ala255Thr) c.718G>A (p.Ala240Thr) c.550G>A (p.Ala184Thr) c.424G>A (p.Ala142Thr) n.2016G>A | COSMIC COSMIC COSMIC |
12 | g.32611260G>C | CA384361209 | FGD4 | c.1315G>C (p.Ala439Pro) c.1570G>C (p.Ala524Pro) c.1036G>C (p.Ala346Pro) c.127G>C (p.Ala43Pro) n.822G>C c.1726G>C (p.Ala576Pro) c.*707G>C (n.*707G>C) c.*726G>C (n.*726G>C) c.904G>C c.1651G>C (p.Ala551Pro) c.*684G>C (n.*684G>C) c.571G>C (p.Ala191Pro) c.283G>C (p.Ala95Pro) c.1807G>C (p.Ala603Pro) c.1609G>C (p.Ala537Pro) c.763G>C (p.Ala255Pro) c.718G>C (p.Ala240Pro) c.550G>C (p.Ala184Pro) c.424G>C (p.Ala142Pro) n.2016G>C | |
12 | g.32611260G>T | CA384361210 | FGD4 | c.1315G>T (p.Ala439Ser) c.1570G>T (p.Ala524Ser) c.1036G>T (p.Ala346Ser) c.127G>T (p.Ala43Ser) n.822G>T c.1726G>T (p.Ala576Ser) c.*707G>T (n.*707G>T) c.*726G>T (n.*726G>T) c.904G>T c.1651G>T (p.Ala551Ser) c.*684G>T (n.*684G>T) c.571G>T (p.Ala191Ser) c.283G>T (p.Ala95Ser) c.1807G>T (p.Ala603Ser) c.1609G>T (p.Ala537Ser) c.763G>T (p.Ala255Ser) c.718G>T (p.Ala240Ser) c.550G>T (p.Ala184Ser) c.424G>T (p.Ala142Ser) n.2016G>T | |
12 | g.32611261C>A | CA384361211 | FGD4 | c.1316C>A (p.Ala439Glu) c.1571C>A (p.Ala524Glu) c.1037C>A (p.Ala346Glu) c.128C>A (p.Ala43Glu) n.823C>A c.1727C>A (p.Ala576Glu) c.*708C>A (n.*708C>A) c.*727C>A (n.*727C>A) c.905C>A c.1652C>A (p.Ala551Glu) c.*685C>A (n.*685C>A) c.572C>A (p.Ala191Glu) c.284C>A (p.Ala95Glu) c.1808C>A (p.Ala603Glu) c.1610C>A (p.Ala537Glu) c.764C>A (p.Ala255Glu) c.719C>A (p.Ala240Glu) c.551C>A (p.Ala184Glu) c.425C>A (p.Ala142Glu) n.2017C>A | |
12 | g.32611261C>G | CA384361212 | FGD4 | c.1316C>G (p.Ala439Gly) c.1571C>G (p.Ala524Gly) c.1037C>G (p.Ala346Gly) c.128C>G (p.Ala43Gly) n.823C>G c.1727C>G (p.Ala576Gly) c.*708C>G (n.*708C>G) c.*727C>G (n.*727C>G) c.905C>G c.1652C>G (p.Ala551Gly) c.*685C>G (n.*685C>G) c.572C>G (p.Ala191Gly) c.284C>G (p.Ala95Gly) c.1808C>G (p.Ala603Gly) c.1610C>G (p.Ala537Gly) c.764C>G (p.Ala255Gly) c.719C>G (p.Ala240Gly) c.551C>G (p.Ala184Gly) c.425C>G (p.Ala142Gly) n.2017C>G | |
12 | g.32611261C>T | CA384361213 | FGD4 | c.1316C>T (p.Ala439Val) c.1571C>T (p.Ala524Val) c.1037C>T (p.Ala346Val) c.128C>T (p.Ala43Val) n.823C>T c.1727C>T (p.Ala576Val) c.*708C>T (n.*708C>T) c.*727C>T (n.*727C>T) c.905C>T c.1652C>T (p.Ala551Val) c.*685C>T (n.*685C>T) c.572C>T (p.Ala191Val) c.284C>T (p.Ala95Val) c.1808C>T (p.Ala603Val) c.1610C>T (p.Ala537Val) c.764C>T (p.Ala255Val) c.719C>T (p.Ala240Val) c.551C>T (p.Ala184Val) c.425C>T (p.Ala142Val) n.2017C>T | |
12 | g.32611262A>C | CA479167897 | FGD4 | c.1317A>C (p.Ala439=) c.1572A>C (p.Ala524=) c.1038A>C (p.Ala346=) c.129A>C (p.Ala43=) n.824A>C c.1728A>C (p.Ala576=) c.*709A>C (n.*709A>C) c.*728A>C (n.*728A>C) c.906A>C c.1653A>C (p.Ala551=) c.*686A>C (n.*686A>C) c.573A>C (p.Ala191=) c.285A>C (p.Ala95=) c.1809A>C (p.Ala603=) c.1611A>C (p.Ala537=) c.765A>C (p.Ala255=) c.720A>C (p.Ala240=) c.552A>C (p.Ala184=) c.426A>C (p.Ala142=) n.2018A>C | gnomAD v4 |
12 | g.32611262A>G | CA479167899 | FGD4 | c.1317A>G (p.Ala439=) c.1572A>G (p.Ala524=) c.1038A>G (p.Ala346=) c.129A>G (p.Ala43=) n.824A>G c.1728A>G (p.Ala576=) c.*709A>G (n.*709A>G) c.*728A>G (n.*728A>G) c.906A>G c.1653A>G (p.Ala551=) c.*686A>G (n.*686A>G) c.573A>G (p.Ala191=) c.285A>G (p.Ala95=) c.1809A>G (p.Ala603=) c.1611A>G (p.Ala537=) c.765A>G (p.Ala255=) c.720A>G (p.Ala240=) c.552A>G (p.Ala184=) c.426A>G (p.Ala142=) n.2018A>G | |
12 | g.32611262A>T | CA479167898 | FGD4 | c.1317A>T (p.Ala439=) c.1572A>T (p.Ala524=) c.1038A>T (p.Ala346=) c.129A>T (p.Ala43=) n.824A>T c.1728A>T (p.Ala576=) c.*709A>T (n.*709A>T) c.*728A>T (n.*728A>T) c.906A>T c.1653A>T (p.Ala551=) c.*686A>T (n.*686A>T) c.573A>T (p.Ala191=) c.285A>T (p.Ala95=) c.1809A>T (p.Ala603=) c.1611A>T (p.Ala537=) c.765A>T (p.Ala255=) c.720A>T (p.Ala240=) c.552A>T (p.Ala184=) c.426A>T (p.Ala142=) n.2018A>T | |
12 | g.32611263C>A | CA384361214 | FGD4 | c.1318C>A (p.Gln440Lys) c.1573C>A (p.Gln525Lys) c.1039C>A (p.Gln347Lys) c.130C>A (p.Gln44Lys) n.825C>A c.1729C>A (p.Gln577Lys) c.*710C>A (n.*710C>A) c.*729C>A (n.*729C>A) c.907C>A c.1654C>A (p.Gln552Lys) c.*687C>A (n.*687C>A) c.574C>A (p.Gln192Lys) c.286C>A (p.Gln96Lys) c.1810C>A (p.Gln604Lys) c.1612C>A (p.Gln538Lys) c.766C>A (p.Gln256Lys) c.721C>A (p.Gln241Lys) c.553C>A (p.Gln185Lys) c.427C>A (p.Gln143Lys) n.2019C>A | |
12 | g.32611263C>G | CA384361215 | FGD4 | c.1318C>G (p.Gln440Glu) c.1573C>G (p.Gln525Glu) c.1039C>G (p.Gln347Glu) c.130C>G (p.Gln44Glu) n.825C>G c.1729C>G (p.Gln577Glu) c.*710C>G (n.*710C>G) c.*729C>G (n.*729C>G) c.907C>G c.1654C>G (p.Gln552Glu) c.*687C>G (n.*687C>G) c.574C>G (p.Gln192Glu) c.286C>G (p.Gln96Glu) c.1810C>G (p.Gln604Glu) c.1612C>G (p.Gln538Glu) c.766C>G (p.Gln256Glu) c.721C>G (p.Gln241Glu) c.553C>G (p.Gln185Glu) c.427C>G (p.Gln143Glu) n.2019C>G | |
12 | g.32611263C>T | CA384361216 | FGD4 | c.1318C>T (p.Gln440Ter) c.1573C>T (p.Gln525Ter) c.1039C>T (p.Gln347Ter) c.130C>T (p.Gln44Ter) n.825C>T c.1729C>T (p.Gln577Ter) c.*710C>T (n.*710C>T) c.*729C>T (n.*729C>T) c.907C>T c.1654C>T (p.Gln552Ter) c.*687C>T (n.*687C>T) c.574C>T (p.Gln192Ter) c.286C>T (p.Gln96Ter) c.1810C>T (p.Gln604Ter) c.1612C>T (p.Gln538Ter) c.766C>T (p.Gln256Ter) c.721C>T (p.Gln241Ter) c.553C>T (p.Gln185Ter) c.427C>T (p.Gln143Ter) n.2019C>T | |
12 | g.32611264A>C | CA384361217 | FGD4 | c.1319A>C (p.Gln440Pro) c.1574A>C (p.Gln525Pro) c.1040A>C (p.Gln347Pro) c.131A>C (p.Gln44Pro) n.826A>C c.1730A>C (p.Gln577Pro) c.*711A>C (n.*711A>C) c.*730A>C (n.*730A>C) c.908A>C c.1655A>C (p.Gln552Pro) c.*688A>C (n.*688A>C) c.575A>C (p.Gln192Pro) c.287A>C (p.Gln96Pro) c.1811A>C (p.Gln604Pro) c.1613A>C (p.Gln538Pro) c.767A>C (p.Gln256Pro) c.722A>C (p.Gln241Pro) c.554A>C (p.Gln185Pro) c.428A>C (p.Gln143Pro) n.2020A>C | |
12 | g.32611264A>G | CA384361218 | FGD4 | c.1319A>G (p.Gln440Arg) c.1574A>G (p.Gln525Arg) c.1040A>G (p.Gln347Arg) c.131A>G (p.Gln44Arg) n.826A>G c.1730A>G (p.Gln577Arg) c.*711A>G (n.*711A>G) c.*730A>G (n.*730A>G) c.908A>G c.1655A>G (p.Gln552Arg) c.*688A>G (n.*688A>G) c.575A>G (p.Gln192Arg) c.287A>G (p.Gln96Arg) c.1811A>G (p.Gln604Arg) c.1613A>G (p.Gln538Arg) c.767A>G (p.Gln256Arg) c.722A>G (p.Gln241Arg) c.554A>G (p.Gln185Arg) c.428A>G (p.Gln143Arg) n.2020A>G | ClinVar dbSNP gnomAD v4 |
12 | g.32611264A>T | CA384361220 | FGD4 | c.1319A>T (p.Gln440Leu) c.1574A>T (p.Gln525Leu) c.1040A>T (p.Gln347Leu) c.131A>T (p.Gln44Leu) n.826A>T c.1730A>T (p.Gln577Leu) c.*711A>T (n.*711A>T) c.*730A>T (n.*730A>T) c.908A>T c.1655A>T (p.Gln552Leu) c.*688A>T (n.*688A>T) c.575A>T (p.Gln192Leu) c.287A>T (p.Gln96Leu) c.1811A>T (p.Gln604Leu) c.1613A>T (p.Gln538Leu) c.767A>T (p.Gln256Leu) c.722A>T (p.Gln241Leu) c.554A>T (p.Gln185Leu) c.428A>T (p.Gln143Leu) n.2020A>T | |
12 | g.32611265A= | CA2026267818 | FGD4 | c.1320A= (p.Gln440=) c.1575A= (p.Gln525=) c.1041A= (p.Gln347=) c.132A= (p.Gln44=) n.827A= c.1731A= (p.Gln577=) c.*712A= (n.*712A=) c.*731A= (n.*731A=) c.909A= c.1656A= (p.Gln552=) c.*689A= (n.*689A=) c.576A= (p.Gln192=) c.288A= (p.Gln96=) c.1812A= (p.Gln604=) c.1614A= (p.Gln538=) c.768A= (p.Gln256=) c.723A= (p.Gln241=) c.555A= (p.Gln185=) c.429A= (p.Gln143=) n.2021A= | |
12 | g.32611265A>C | CA384361221 | FGD4 | c.1320A>C (p.Gln440His) c.1575A>C (p.Gln525His) c.1041A>C (p.Gln347His) c.132A>C (p.Gln44His) n.827A>C c.1731A>C (p.Gln577His) c.*712A>C (n.*712A>C) c.*731A>C (n.*731A>C) c.909A>C c.1656A>C (p.Gln552His) c.*689A>C (n.*689A>C) c.576A>C (p.Gln192His) c.288A>C (p.Gln96His) c.1812A>C (p.Gln604His) c.1614A>C (p.Gln538His) c.768A>C (p.Gln256His) c.723A>C (p.Gln241His) c.555A>C (p.Gln185His) c.429A>C (p.Gln143His) n.2021A>C | |
12 | g.32611265A>G | CA479167900 | FGD4 | c.1320A>G (p.Gln440=) c.1575A>G (p.Gln525=) c.1041A>G (p.Gln347=) c.132A>G (p.Gln44=) n.827A>G c.1731A>G (p.Gln577=) c.*712A>G (n.*712A>G) c.*731A>G (n.*731A>G) c.909A>G c.1656A>G (p.Gln552=) c.*689A>G (n.*689A>G) c.576A>G (p.Gln192=) c.288A>G (p.Gln96=) c.1812A>G (p.Gln604=) c.1614A>G (p.Gln538=) c.768A>G (p.Gln256=) c.723A>G (p.Gln241=) c.555A>G (p.Gln185=) c.429A>G (p.Gln143=) n.2021A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.32611265A>T | CA384361223 | FGD4 | c.1320A>T (p.Gln440His) c.1575A>T (p.Gln525His) c.1041A>T (p.Gln347His) c.132A>T (p.Gln44His) n.827A>T c.1731A>T (p.Gln577His) c.*712A>T (n.*712A>T) c.*731A>T (n.*731A>T) c.909A>T c.1656A>T (p.Gln552His) c.*689A>T (n.*689A>T) c.576A>T (p.Gln192His) c.288A>T (p.Gln96His) c.1812A>T (p.Gln604His) c.1614A>T (p.Gln538His) c.768A>T (p.Gln256His) c.723A>T (p.Gln241His) c.555A>T (p.Gln185His) c.429A>T (p.Gln143His) n.2021A>T | |
12 | g.32611266G>A | CA384361225 | FGD4 | c.1321G>A (p.Glu441Lys) c.1576G>A (p.Glu526Lys) c.1042G>A (p.Glu348Lys) c.133G>A (p.Glu45Lys) n.828G>A c.1732G>A (p.Glu578Lys) c.*713G>A (n.*713G>A) c.*732G>A (n.*732G>A) c.910G>A c.1657G>A (p.Glu553Lys) c.*690G>A (n.*690G>A) c.577G>A (p.Glu193Lys) c.289G>A (p.Glu97Lys) c.1813G>A (p.Glu605Lys) c.1615G>A (p.Glu539Lys) c.769G>A (p.Glu257Lys) c.724G>A (p.Glu242Lys) c.556G>A (p.Glu186Lys) c.430G>A (p.Glu144Lys) n.2022G>A | |
12 | g.32611266G>C | CA384361227 | FGD4 | c.1321G>C (p.Glu441Gln) c.1576G>C (p.Glu526Gln) c.1042G>C (p.Glu348Gln) c.133G>C (p.Glu45Gln) n.828G>C c.1732G>C (p.Glu578Gln) c.*713G>C (n.*713G>C) c.*732G>C (n.*732G>C) c.910G>C c.1657G>C (p.Glu553Gln) c.*690G>C (n.*690G>C) c.577G>C (p.Glu193Gln) c.289G>C (p.Glu97Gln) c.1813G>C (p.Glu605Gln) c.1615G>C (p.Glu539Gln) c.769G>C (p.Glu257Gln) c.724G>C (p.Glu242Gln) c.556G>C (p.Glu186Gln) c.430G>C (p.Glu144Gln) n.2022G>C | |
12 | g.32611266G>T | CA384361228 | FGD4 | c.1321G>T (p.Glu441Ter) c.1576G>T (p.Glu526Ter) c.1042G>T (p.Glu348Ter) c.133G>T (p.Glu45Ter) n.828G>T c.1732G>T (p.Glu578Ter) c.*713G>T (n.*713G>T) c.*732G>T (n.*732G>T) c.910G>T c.1657G>T (p.Glu553Ter) c.*690G>T (n.*690G>T) c.577G>T (p.Glu193Ter) c.289G>T (p.Glu97Ter) c.1813G>T (p.Glu605Ter) c.1615G>T (p.Glu539Ter) c.769G>T (p.Glu257Ter) c.724G>T (p.Glu242Ter) c.556G>T (p.Glu186Ter) c.430G>T (p.Glu144Ter) n.2022G>T | |
12 | g.32611267A>C | CA384361229 | FGD4 | c.1322A>C (p.Glu441Ala) c.1577A>C (p.Glu526Ala) c.1043A>C (p.Glu348Ala) c.134A>C (p.Glu45Ala) n.829A>C c.1733A>C (p.Glu578Ala) c.*714A>C (n.*714A>C) c.*733A>C (n.*733A>C) c.911A>C c.1658A>C (p.Glu553Ala) c.*691A>C (n.*691A>C) c.578A>C (p.Glu193Ala) c.290A>C (p.Glu97Ala) c.1814A>C (p.Glu605Ala) c.1616A>C (p.Glu539Ala) c.770A>C (p.Glu257Ala) c.725A>C (p.Glu242Ala) c.557A>C (p.Glu186Ala) c.431A>C (p.Glu144Ala) n.2023A>C | |
12 | g.32611267A>G | CA384361230 | FGD4 | c.1322A>G (p.Glu441Gly) c.1577A>G (p.Glu526Gly) c.1043A>G (p.Glu348Gly) c.134A>G (p.Glu45Gly) n.829A>G c.1733A>G (p.Glu578Gly) c.*714A>G (n.*714A>G) c.*733A>G (n.*733A>G) c.911A>G c.1658A>G (p.Glu553Gly) c.*691A>G (n.*691A>G) c.578A>G (p.Glu193Gly) c.290A>G (p.Glu97Gly) c.1814A>G (p.Glu605Gly) c.1616A>G (p.Glu539Gly) c.770A>G (p.Glu257Gly) c.725A>G (p.Glu242Gly) c.557A>G (p.Glu186Gly) c.431A>G (p.Glu144Gly) n.2023A>G | |
12 | g.32611267A>T | CA384361231 | FGD4 | c.1322A>T (p.Glu441Val) c.1577A>T (p.Glu526Val) c.1043A>T (p.Glu348Val) c.134A>T (p.Glu45Val) n.829A>T c.1733A>T (p.Glu578Val) c.*714A>T (n.*714A>T) c.*733A>T (n.*733A>T) c.911A>T c.1658A>T (p.Glu553Val) c.*691A>T (n.*691A>T) c.578A>T (p.Glu193Val) c.290A>T (p.Glu97Val) c.1814A>T (p.Glu605Val) c.1616A>T (p.Glu539Val) c.770A>T (p.Glu257Val) c.725A>T (p.Glu242Val) c.557A>T (p.Glu186Val) c.431A>T (p.Glu144Val) n.2023A>T | |
12 | g.32611268A= | CA2026267820 | FGD4 | c.1323A= (p.Glu441=) c.1578A= (p.Glu526=) c.1044A= (p.Glu348=) c.135A= (p.Glu45=) n.830A= c.1734A= (p.Glu578=) c.*715A= (n.*715A=) c.*734A= (n.*734A=) c.912A= c.1659A= (p.Glu553=) c.*692A= (n.*692A=) c.579A= (p.Glu193=) c.291A= (p.Glu97=) c.1815A= (p.Glu605=) c.1617A= (p.Glu539=) c.771A= (p.Glu257=) c.726A= (p.Glu242=) c.558A= (p.Glu186=) c.432A= (p.Glu144=) n.2024A= | |
12 | g.32611268A>C | CA384361235 | FGD4 | c.1323A>C (p.Glu441Asp) c.1578A>C (p.Glu526Asp) c.1044A>C (p.Glu348Asp) c.135A>C (p.Glu45Asp) n.830A>C c.1734A>C (p.Glu578Asp) c.*715A>C (n.*715A>C) c.*734A>C (n.*734A>C) c.912A>C c.1659A>C (p.Glu553Asp) c.*692A>C (n.*692A>C) c.579A>C (p.Glu193Asp) c.291A>C (p.Glu97Asp) c.1815A>C (p.Glu605Asp) c.1617A>C (p.Glu539Asp) c.771A>C (p.Glu257Asp) c.726A>C (p.Glu242Asp) c.558A>C (p.Glu186Asp) c.432A>C (p.Glu144Asp) n.2024A>C | |
12 | g.32611268A>G | CA479167901 | FGD4 | c.1323A>G (p.Glu441=) c.1578A>G (p.Glu526=) c.1044A>G (p.Glu348=) c.135A>G (p.Glu45=) n.830A>G c.1734A>G (p.Glu578=) c.*715A>G (n.*715A>G) c.*734A>G (n.*734A>G) c.912A>G c.1659A>G (p.Glu553=) c.*692A>G (n.*692A>G) c.579A>G (p.Glu193=) c.291A>G (p.Glu97=) c.1815A>G (p.Glu605=) c.1617A>G (p.Glu539=) c.771A>G (p.Glu257=) c.726A>G (p.Glu242=) c.558A>G (p.Glu186=) c.432A>G (p.Glu144=) n.2024A>G | dbSNP gnomAD v4 |
12 | g.32611268A>T | CA384361233 | FGD4 | c.1323A>T (p.Glu441Asp) c.1578A>T (p.Glu526Asp) c.1044A>T (p.Glu348Asp) c.135A>T (p.Glu45Asp) n.830A>T c.1734A>T (p.Glu578Asp) c.*715A>T (n.*715A>T) c.*734A>T (n.*734A>T) c.912A>T c.1659A>T (p.Glu553Asp) c.*692A>T (n.*692A>T) c.579A>T (p.Glu193Asp) c.291A>T (p.Glu97Asp) c.1815A>T (p.Glu605Asp) c.1617A>T (p.Glu539Asp) c.771A>T (p.Glu257Asp) c.726A>T (p.Glu242Asp) c.558A>T (p.Glu186Asp) c.432A>T (p.Glu144Asp) n.2024A>T | |
12 | g.32611269C>A | CA384361236 | FGD4 | c.1324C>A (p.Arg442Ser) c.1579C>A (p.Arg527Ser) c.1045C>A (p.Arg349Ser) c.136C>A (p.Arg46Ser) n.831C>A c.1735C>A (p.Arg579Ser) c.*716C>A (n.*716C>A) c.*735C>A (n.*735C>A) c.913C>A c.1660C>A (p.Arg554Ser) c.*693C>A (n.*693C>A) c.580C>A (p.Arg194Ser) c.292C>A (p.Arg98Ser) c.1816C>A (p.Arg606Ser) c.1618C>A (p.Arg540Ser) c.772C>A (p.Arg258Ser) c.727C>A (p.Arg243Ser) c.559C>A (p.Arg187Ser) c.433C>A (p.Arg145Ser) n.2025C>A | gnomAD v4 |
12 | g.32611269C= | CA2026267823 | FGD4 | c.1324C= (p.Arg442=) c.1579C= (p.Arg527=) c.1045C= (p.Arg349=) c.136C= (p.Arg46=) n.831C= c.1735C= (p.Arg579=) c.*716C= (n.*716C=) c.*735C= (n.*735C=) c.913C= c.1660C= (p.Arg554=) c.*693C= (n.*693C=) c.580C= (p.Arg194=) c.292C= (p.Arg98=) c.1816C= (p.Arg606=) c.1618C= (p.Arg540=) c.772C= (p.Arg258=) c.727C= (p.Arg243=) c.559C= (p.Arg187=) c.433C= (p.Arg145=) n.2025C= | |
12 | g.32611269C>G | CA384361238 | FGD4 | c.1324C>G (p.Arg442Gly) c.1579C>G (p.Arg527Gly) c.1045C>G (p.Arg349Gly) c.136C>G (p.Arg46Gly) n.831C>G c.1735C>G (p.Arg579Gly) c.*716C>G (n.*716C>G) c.*735C>G (n.*735C>G) c.913C>G c.1660C>G (p.Arg554Gly) c.*693C>G (n.*693C>G) c.580C>G (p.Arg194Gly) c.292C>G (p.Arg98Gly) c.1816C>G (p.Arg606Gly) c.1618C>G (p.Arg540Gly) c.772C>G (p.Arg258Gly) c.727C>G (p.Arg243Gly) c.559C>G (p.Arg187Gly) c.433C>G (p.Arg145Gly) n.2025C>G | |
12 | g.32611269C>T | CA384361240 | FGD4 | c.1324C>T (p.Arg442Cys) c.1579C>T (p.Arg527Cys) c.1045C>T (p.Arg349Cys) c.136C>T (p.Arg46Cys) n.831C>T c.1735C>T (p.Arg579Cys) c.*716C>T (n.*716C>T) c.*735C>T (n.*735C>T) c.913C>T c.1660C>T (p.Arg554Cys) c.*693C>T (n.*693C>T) c.580C>T (p.Arg194Cys) c.292C>T (p.Arg98Cys) c.1816C>T (p.Arg606Cys) c.1618C>T (p.Arg540Cys) c.772C>T (p.Arg258Cys) c.727C>T (p.Arg243Cys) c.559C>T (p.Arg187Cys) c.433C>T (p.Arg145Cys) n.2025C>T | ClinVar dbSNP gnomAD v4 |
12 | g.32611270G>A | CA343101 | FGD4 | c.1325G>A (p.Arg442His) c.1580G>A (p.Arg527His) c.1046G>A (p.Arg349His) c.137G>A (p.Arg46His) n.832G>A c.1736G>A (p.Arg579His) c.*717G>A (n.*717G>A) c.*736G>A (n.*736G>A) c.914G>A c.1661G>A (p.Arg554His) c.*694G>A (n.*694G>A) c.581G>A (p.Arg194His) c.293G>A (p.Arg98His) c.1817G>A (p.Arg606His) c.1619G>A (p.Arg540His) c.773G>A (p.Arg258His) c.728G>A (p.Arg243His) c.560G>A (p.Arg187His) c.434G>A (p.Arg145His) n.2026G>A | ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.32611270G>C | CA384361243 | FGD4 | c.1325G>C (p.Arg442Pro) c.1580G>C (p.Arg527Pro) c.1046G>C (p.Arg349Pro) c.137G>C (p.Arg46Pro) n.832G>C c.1736G>C (p.Arg579Pro) c.*717G>C (n.*717G>C) c.*736G>C (n.*736G>C) c.914G>C c.1661G>C (p.Arg554Pro) c.*694G>C (n.*694G>C) c.581G>C (p.Arg194Pro) c.293G>C (p.Arg98Pro) c.1817G>C (p.Arg606Pro) c.1619G>C (p.Arg540Pro) c.773G>C (p.Arg258Pro) c.728G>C (p.Arg243Pro) c.560G>C (p.Arg187Pro) c.434G>C (p.Arg145Pro) n.2026G>C | |
12 | g.32611270G= | CA2026267826 | FGD4 | c.1325G= (p.Arg442=) c.1580G= (p.Arg527=) c.1046G= (p.Arg349=) c.137G= (p.Arg46=) n.832G= c.1736G= (p.Arg579=) c.*717G= (n.*717G=) c.*736G= (n.*736G=) c.914G= c.1661G= (p.Arg554=) c.*694G= (n.*694G=) c.581G= (p.Arg194=) c.293G= (p.Arg98=) c.1817G= (p.Arg606=) c.1619G= (p.Arg540=) c.773G= (p.Arg258=) c.728G= (p.Arg243=) c.560G= (p.Arg187=) c.434G= (p.Arg145=) n.2026G= | |
12 | g.32611270G>T | CA384361245 | FGD4 | c.1325G>T (p.Arg442Leu) c.1580G>T (p.Arg527Leu) c.1046G>T (p.Arg349Leu) c.137G>T (p.Arg46Leu) n.832G>T c.1736G>T (p.Arg579Leu) c.*717G>T (n.*717G>T) c.*736G>T (n.*736G>T) c.914G>T c.1661G>T (p.Arg554Leu) c.*694G>T (n.*694G>T) c.581G>T (p.Arg194Leu) c.293G>T (p.Arg98Leu) c.1817G>T (p.Arg606Leu) c.1619G>T (p.Arg540Leu) c.773G>T (p.Arg258Leu) c.728G>T (p.Arg243Leu) c.560G>T (p.Arg187Leu) c.434G>T (p.Arg145Leu) n.2026G>T | |
12 | g.32611271C>A | CA479167902 | FGD4 | c.1326C>A (p.Arg442=) c.1581C>A (p.Arg527=) c.1047C>A (p.Arg349=) c.138C>A (p.Arg46=) n.833C>A c.1737C>A (p.Arg579=) c.*718C>A (n.*718C>A) c.*737C>A (n.*737C>A) c.915C>A c.1662C>A (p.Arg554=) c.*695C>A (n.*695C>A) c.582C>A (p.Arg194=) c.294C>A (p.Arg98=) c.1818C>A (p.Arg606=) c.1620C>A (p.Arg540=) c.774C>A (p.Arg258=) c.729C>A (p.Arg243=) c.561C>A (p.Arg187=) c.435C>A (p.Arg145=) n.2027C>A | |
12 | g.32611271C>G | CA479167903 | FGD4 | c.1326C>G (p.Arg442=) c.1581C>G (p.Arg527=) c.1047C>G (p.Arg349=) c.138C>G (p.Arg46=) n.833C>G c.1737C>G (p.Arg579=) c.*718C>G (n.*718C>G) c.*737C>G (n.*737C>G) c.915C>G c.1662C>G (p.Arg554=) c.*695C>G (n.*695C>G) c.582C>G (p.Arg194=) c.294C>G (p.Arg98=) c.1818C>G (p.Arg606=) c.1620C>G (p.Arg540=) c.774C>G (p.Arg258=) c.729C>G (p.Arg243=) c.561C>G (p.Arg187=) c.435C>G (p.Arg145=) n.2027C>G | |
12 | g.32611271C>T | CA479167904 | FGD4 | c.1326C>T (p.Arg442=) c.1581C>T (p.Arg527=) c.1047C>T (p.Arg349=) c.138C>T (p.Arg46=) n.833C>T c.1737C>T (p.Arg579=) c.*718C>T (n.*718C>T) c.*737C>T (n.*737C>T) c.915C>T c.1662C>T (p.Arg554=) c.*695C>T (n.*695C>T) c.582C>T (p.Arg194=) c.294C>T (p.Arg98=) c.1818C>T (p.Arg606=) c.1620C>T (p.Arg540=) c.774C>T (p.Arg258=) c.729C>T (p.Arg243=) c.561C>T (p.Arg187=) c.435C>T (p.Arg145=) n.2027C>T | |
12 | g.32611272T>A | CA384361247 | FGD4 | c.1327T>A (p.Tyr443Asn) c.1582T>A (p.Tyr528Asn) c.1048T>A (p.Tyr350Asn) c.139T>A (p.Tyr47Asn) n.834T>A c.1738T>A (p.Tyr580Asn) c.*719T>A (n.*719T>A) c.*738T>A (n.*738T>A) c.916T>A c.1663T>A (p.Tyr555Asn) c.*696T>A (n.*696T>A) c.583T>A (p.Tyr195Asn) c.295T>A (p.Tyr99Asn) c.1819T>A (p.Tyr607Asn) c.1621T>A (p.Tyr541Asn) c.775T>A (p.Tyr259Asn) c.730T>A (p.Tyr244Asn) c.562T>A (p.Tyr188Asn) c.436T>A (p.Tyr146Asn) n.2028T>A | |
12 | g.32611272T>C | CA384361249 | FGD4 | c.1327T>C (p.Tyr443His) c.1582T>C (p.Tyr528His) c.1048T>C (p.Tyr350His) c.139T>C (p.Tyr47His) n.834T>C c.1738T>C (p.Tyr580His) c.*719T>C (n.*719T>C) c.*738T>C (n.*738T>C) c.916T>C c.1663T>C (p.Tyr555His) c.*696T>C (n.*696T>C) c.583T>C (p.Tyr195His) c.295T>C (p.Tyr99His) c.1819T>C (p.Tyr607His) c.1621T>C (p.Tyr541His) c.775T>C (p.Tyr259His) c.730T>C (p.Tyr244His) c.562T>C (p.Tyr188His) c.436T>C (p.Tyr146His) n.2028T>C | ClinVar dbSNP |
12 | g.32611272T>G | CA384361248 | FGD4 | c.1327T>G (p.Tyr443Asp) c.1582T>G (p.Tyr528Asp) c.1048T>G (p.Tyr350Asp) c.139T>G (p.Tyr47Asp) n.834T>G c.1738T>G (p.Tyr580Asp) c.*719T>G (n.*719T>G) c.*738T>G (n.*738T>G) c.916T>G c.1663T>G (p.Tyr555Asp) c.*696T>G (n.*696T>G) c.583T>G (p.Tyr195Asp) c.295T>G (p.Tyr99Asp) c.1819T>G (p.Tyr607Asp) c.1621T>G (p.Tyr541Asp) c.775T>G (p.Tyr259Asp) c.730T>G (p.Tyr244Asp) c.562T>G (p.Tyr188Asp) c.436T>G (p.Tyr146Asp) n.2028T>G | |
12 | g.32611272T= | CA2026267831 | FGD4 | c.1327T= (p.Tyr443=) c.1582T= (p.Tyr528=) c.1048T= (p.Tyr350=) c.139T= (p.Tyr47=) n.834T= c.1738T= (p.Tyr580=) c.*719T= (n.*719T=) c.*738T= (n.*738T=) c.916T= c.1663T= (p.Tyr555=) c.*696T= (n.*696T=) c.583T= (p.Tyr195=) c.295T= (p.Tyr99=) c.1819T= (p.Tyr607=) c.1621T= (p.Tyr541=) c.775T= (p.Tyr259=) c.730T= (p.Tyr244=) c.562T= (p.Tyr188=) c.436T= (p.Tyr146=) n.2028T= | |
12 | g.32611273A>C | CA384361250 | FGD4 | c.1328A>C (p.Tyr443Ser) c.1583A>C (p.Tyr528Ser) c.1049A>C (p.Tyr350Ser) c.140A>C (p.Tyr47Ser) n.835A>C c.1739A>C (p.Tyr580Ser) c.*720A>C (n.*720A>C) c.*739A>C (n.*739A>C) c.917A>C c.1664A>C (p.Tyr555Ser) c.*697A>C (n.*697A>C) c.584A>C (p.Tyr195Ser) c.296A>C (p.Tyr99Ser) c.1820A>C (p.Tyr607Ser) c.1622A>C (p.Tyr541Ser) c.776A>C (p.Tyr259Ser) c.731A>C (p.Tyr244Ser) c.563A>C (p.Tyr188Ser) c.437A>C (p.Tyr146Ser) n.2029A>C | |
12 | g.32611273A>G | CA384361251 | FGD4 | c.1328A>G (p.Tyr443Cys) c.1583A>G (p.Tyr528Cys) c.1049A>G (p.Tyr350Cys) c.140A>G (p.Tyr47Cys) n.835A>G c.1739A>G (p.Tyr580Cys) c.*720A>G (n.*720A>G) c.*739A>G (n.*739A>G) c.917A>G c.1664A>G (p.Tyr555Cys) c.*697A>G (n.*697A>G) c.584A>G (p.Tyr195Cys) c.296A>G (p.Tyr99Cys) c.1820A>G (p.Tyr607Cys) c.1622A>G (p.Tyr541Cys) c.776A>G (p.Tyr259Cys) c.731A>G (p.Tyr244Cys) c.563A>G (p.Tyr188Cys) c.437A>G (p.Tyr146Cys) n.2029A>G | |
12 | g.32611273A>T | CA384361252 | FGD4 | c.1328A>T (p.Tyr443Phe) c.1583A>T (p.Tyr528Phe) c.1049A>T (p.Tyr350Phe) c.140A>T (p.Tyr47Phe) n.835A>T c.1739A>T (p.Tyr580Phe) c.*720A>T (n.*720A>T) c.*739A>T (n.*739A>T) c.917A>T c.1664A>T (p.Tyr555Phe) c.*697A>T (n.*697A>T) c.584A>T (p.Tyr195Phe) c.296A>T (p.Tyr99Phe) c.1820A>T (p.Tyr607Phe) c.1622A>T (p.Tyr541Phe) c.776A>T (p.Tyr259Phe) c.731A>T (p.Tyr244Phe) c.563A>T (p.Tyr188Phe) c.437A>T (p.Tyr146Phe) n.2029A>T | |
12 | g.32611274C>A | CA10603250 | FGD4 | c.1329C>A (p.Tyr443Ter) c.1584C>A (p.Tyr528Ter) c.1050C>A (p.Tyr350Ter) c.141C>A (p.Tyr47Ter) n.836C>A c.1740C>A (p.Tyr580Ter) c.*721C>A (n.*721C>A) c.*740C>A (n.*740C>A) c.918C>A c.1665C>A (p.Tyr555Ter) c.*698C>A (n.*698C>A) c.585C>A (p.Tyr195Ter) c.297C>A (p.Tyr99Ter) c.1821C>A (p.Tyr607Ter) c.1623C>A (p.Tyr541Ter) c.777C>A (p.Tyr259Ter) c.732C>A (p.Tyr244Ter) c.564C>A (p.Tyr188Ter) c.438C>A (p.Tyr146Ter) n.2030C>A | ClinVar dbSNP |
12 | g.32611274C= | CA2026267835 | FGD4 | c.1329C= (p.Tyr443=) c.1584C= (p.Tyr528=) c.1050C= (p.Tyr350=) c.141C= (p.Tyr47=) n.836C= c.1740C= (p.Tyr580=) c.*721C= (n.*721C=) c.*740C= (n.*740C=) c.918C= c.1665C= (p.Tyr555=) c.*698C= (n.*698C=) c.585C= (p.Tyr195=) c.297C= (p.Tyr99=) c.1821C= (p.Tyr607=) c.1623C= (p.Tyr541=) c.777C= (p.Tyr259=) c.732C= (p.Tyr244=) c.564C= (p.Tyr188=) c.438C= (p.Tyr146=) n.2030C= | |
12 | g.32611274C>G | CA384361254 | FGD4 | c.1329C>G (p.Tyr443Ter) c.1584C>G (p.Tyr528Ter) c.1050C>G (p.Tyr350Ter) c.141C>G (p.Tyr47Ter) n.836C>G c.1740C>G (p.Tyr580Ter) c.*721C>G (n.*721C>G) c.*740C>G (n.*740C>G) c.918C>G c.1665C>G (p.Tyr555Ter) c.*698C>G (n.*698C>G) c.585C>G (p.Tyr195Ter) c.297C>G (p.Tyr99Ter) c.1821C>G (p.Tyr607Ter) c.1623C>G (p.Tyr541Ter) c.777C>G (p.Tyr259Ter) c.732C>G (p.Tyr244Ter) c.564C>G (p.Tyr188Ter) c.438C>G (p.Tyr146Ter) n.2030C>G | |
12 | g.32611274C>T | CA479167905 | FGD4 | c.1329C>T (p.Tyr443=) c.1584C>T (p.Tyr528=) c.1050C>T (p.Tyr350=) c.141C>T (p.Tyr47=) n.836C>T c.1740C>T (p.Tyr580=) c.*721C>T (n.*721C>T) c.*740C>T (n.*740C>T) c.918C>T c.1665C>T (p.Tyr555=) c.*698C>T (n.*698C>T) c.585C>T (p.Tyr195=) c.297C>T (p.Tyr99=) c.1821C>T (p.Tyr607=) c.1623C>T (p.Tyr541=) c.777C>T (p.Tyr259=) c.732C>T (p.Tyr244=) c.564C>T (p.Tyr188=) c.438C>T (p.Tyr146=) n.2030C>T | |
12 | g.32611275C>A | CA384361256 | FGD4 | c.1330C>A (p.Leu444Ile) c.1585C>A (p.Leu529Ile) c.1051C>A (p.Leu351Ile) c.142C>A (p.Leu48Ile) n.837C>A c.1741C>A (p.Leu581Ile) c.*722C>A (n.*722C>A) c.*741C>A (n.*741C>A) c.919C>A c.1666C>A (p.Leu556Ile) c.*699C>A (n.*699C>A) c.586C>A (p.Leu196Ile) c.298C>A (p.Leu100Ile) c.1822C>A (p.Leu608Ile) c.1624C>A (p.Leu542Ile) c.778C>A (p.Leu260Ile) c.733C>A (p.Leu245Ile) c.565C>A (p.Leu189Ile) c.439C>A (p.Leu147Ile) n.2031C>A | |
12 | g.32611275C>G | CA384361259 | FGD4 | c.1330C>G (p.Leu444Val) c.1585C>G (p.Leu529Val) c.1051C>G (p.Leu351Val) c.142C>G (p.Leu48Val) n.837C>G c.1741C>G (p.Leu581Val) c.*722C>G (n.*722C>G) c.*741C>G (n.*741C>G) c.919C>G c.1666C>G (p.Leu556Val) c.*699C>G (n.*699C>G) c.586C>G (p.Leu196Val) c.298C>G (p.Leu100Val) c.1822C>G (p.Leu608Val) c.1624C>G (p.Leu542Val) c.778C>G (p.Leu260Val) c.733C>G (p.Leu245Val) c.565C>G (p.Leu189Val) c.439C>G (p.Leu147Val) n.2031C>G | |
12 | g.32611275C>T | CA384361261 | FGD4 | c.1330C>T (p.Leu444Phe) c.1585C>T (p.Leu529Phe) c.1051C>T (p.Leu351Phe) c.142C>T (p.Leu48Phe) n.837C>T c.1741C>T (p.Leu581Phe) c.*722C>T (n.*722C>T) c.*741C>T (n.*741C>T) c.919C>T c.1666C>T (p.Leu556Phe) c.*699C>T (n.*699C>T) c.586C>T (p.Leu196Phe) c.298C>T (p.Leu100Phe) c.1822C>T (p.Leu608Phe) c.1624C>T (p.Leu542Phe) c.778C>T (p.Leu260Phe) c.733C>T (p.Leu245Phe) c.565C>T (p.Leu189Phe) c.439C>T (p.Leu147Phe) n.2031C>T | |
12 | g.32611276T>A | CA384361264 | FGD4 | c.1331T>A (p.Leu444His) c.1586T>A (p.Leu529His) c.1052T>A (p.Leu351His) c.143T>A (p.Leu48His) n.838T>A c.1742T>A (p.Leu581His) c.*723T>A (n.*723T>A) c.*742T>A (n.*742T>A) c.920T>A c.1667T>A (p.Leu556His) c.*700T>A (n.*700T>A) c.587T>A (p.Leu196His) c.299T>A (p.Leu100His) c.1823T>A (p.Leu608His) c.1625T>A (p.Leu542His) c.779T>A (p.Leu260His) c.734T>A (p.Leu245His) c.566T>A (p.Leu189His) c.440T>A (p.Leu147His) n.2032T>A | |
12 | g.32611276T>C | CA384361266 | FGD4 | c.1331T>C (p.Leu444Pro) c.1586T>C (p.Leu529Pro) c.1052T>C (p.Leu351Pro) c.143T>C (p.Leu48Pro) n.838T>C c.1742T>C (p.Leu581Pro) c.*723T>C (n.*723T>C) c.*742T>C (n.*742T>C) c.920T>C c.1667T>C (p.Leu556Pro) c.*700T>C (n.*700T>C) c.587T>C (p.Leu196Pro) c.299T>C (p.Leu100Pro) c.1823T>C (p.Leu608Pro) c.1625T>C (p.Leu542Pro) c.779T>C (p.Leu260Pro) c.734T>C (p.Leu245Pro) c.566T>C (p.Leu189Pro) c.440T>C (p.Leu147Pro) n.2032T>C | |
12 | g.32611276T>G | CA384361267 | FGD4 | c.1331T>G (p.Leu444Arg) c.1586T>G (p.Leu529Arg) c.1052T>G (p.Leu351Arg) c.143T>G (p.Leu48Arg) n.838T>G c.1742T>G (p.Leu581Arg) c.*723T>G (n.*723T>G) c.*742T>G (n.*742T>G) c.920T>G c.1667T>G (p.Leu556Arg) c.*700T>G (n.*700T>G) c.587T>G (p.Leu196Arg) c.299T>G (p.Leu100Arg) c.1823T>G (p.Leu608Arg) c.1625T>G (p.Leu542Arg) c.779T>G (p.Leu260Arg) c.734T>G (p.Leu245Arg) c.566T>G (p.Leu189Arg) c.440T>G (p.Leu147Arg) n.2032T>G | |
12 | g.32611279del | CA2618214721 | FGD4 | c.1334del (p.Phe445SerfsTer17) c.1589del (p.Phe530SerfsTer17) c.1055del (p.Phe352SerfsTer17) c.146del (p.Phe49SerfsTer17) n.841del c.1745del (p.Phe582SerfsTer17) c.*726del (n.*726del) c.*745del (n.*745del) c.923del c.1670del (p.Phe557SerfsTer17) c.*703del (n.*703del) c.590del (p.Phe197SerfsTer17) c.302del (p.Phe101SerfsTer17) c.1826del (p.Phe609SerfsTer17) c.1628del (p.Phe543SerfsTer17) c.782del (p.Phe261SerfsTer17) c.737del (p.Phe246SerfsTer17) c.569del (p.Phe190SerfsTer17) c.443del (p.Phe148SerfsTer17) n.2035del | gnomAD v4 |
12 | g.32611277T>A | CA479167907 | FGD4 | c.1332T>A (p.Leu444=) c.1587T>A (p.Leu529=) c.1053T>A (p.Leu351=) c.144T>A (p.Leu48=) n.839T>A c.1743T>A (p.Leu581=) c.*724T>A (n.*724T>A) c.*743T>A (n.*743T>A) c.921T>A c.1668T>A (p.Leu556=) c.*701T>A (n.*701T>A) c.588T>A (p.Leu196=) c.300T>A (p.Leu100=) c.1824T>A (p.Leu608=) c.1626T>A (p.Leu542=) c.780T>A (p.Leu260=) c.735T>A (p.Leu245=) c.567T>A (p.Leu189=) c.441T>A (p.Leu147=) n.2033T>A | |
12 | g.32611277T>C | CA479167908 | FGD4 | c.1332T>C (p.Leu444=) c.1587T>C (p.Leu529=) c.1053T>C (p.Leu351=) c.144T>C (p.Leu48=) n.839T>C c.1743T>C (p.Leu581=) c.*724T>C (n.*724T>C) c.*743T>C (n.*743T>C) c.921T>C c.1668T>C (p.Leu556=) c.*701T>C (n.*701T>C) c.588T>C (p.Leu196=) c.300T>C (p.Leu100=) c.1824T>C (p.Leu608=) c.1626T>C (p.Leu542=) c.780T>C (p.Leu260=) c.735T>C (p.Leu245=) c.567T>C (p.Leu189=) c.441T>C (p.Leu147=) n.2033T>C | |
12 | g.32611277T>G | CA479167906 | FGD4 | c.1332T>G (p.Leu444=) c.1587T>G (p.Leu529=) c.1053T>G (p.Leu351=) c.144T>G (p.Leu48=) n.839T>G c.1743T>G (p.Leu581=) c.*724T>G (n.*724T>G) c.*743T>G (n.*743T>G) c.921T>G c.1668T>G (p.Leu556=) c.*701T>G (n.*701T>G) c.588T>G (p.Leu196=) c.300T>G (p.Leu100=) c.1824T>G (p.Leu608=) c.1626T>G (p.Leu542=) c.780T>G (p.Leu260=) c.735T>G (p.Leu245=) c.567T>G (p.Leu189=) c.441T>G (p.Leu147=) n.2033T>G | |
12 | g.32611278T>A | CA384361272 | FGD4 | c.1333T>A (p.Phe445Ile) c.1588T>A (p.Phe530Ile) c.1054T>A (p.Phe352Ile) c.145T>A (p.Phe49Ile) n.840T>A c.1744T>A (p.Phe582Ile) c.*725T>A (n.*725T>A) c.*744T>A (n.*744T>A) c.922T>A c.1669T>A (p.Phe557Ile) c.*702T>A (n.*702T>A) c.589T>A (p.Phe197Ile) c.301T>A (p.Phe101Ile) c.1825T>A (p.Phe609Ile) c.1627T>A (p.Phe543Ile) c.781T>A (p.Phe261Ile) c.736T>A (p.Phe246Ile) c.568T>A (p.Phe190Ile) c.442T>A (p.Phe148Ile) n.2034T>A | |
12 | g.32611278T>C | CA384361274 | FGD4 | c.1333T>C (p.Phe445Leu) c.1588T>C (p.Phe530Leu) c.1054T>C (p.Phe352Leu) c.145T>C (p.Phe49Leu) n.840T>C c.1744T>C (p.Phe582Leu) c.*725T>C (n.*725T>C) c.*744T>C (n.*744T>C) c.922T>C c.1669T>C (p.Phe557Leu) c.*702T>C (n.*702T>C) c.589T>C (p.Phe197Leu) c.301T>C (p.Phe101Leu) c.1825T>C (p.Phe609Leu) c.1627T>C (p.Phe543Leu) c.781T>C (p.Phe261Leu) c.736T>C (p.Phe246Leu) c.568T>C (p.Phe190Leu) c.442T>C (p.Phe148Leu) n.2034T>C | |
12 | g.32611278T>G | CA384361271 | FGD4 | c.1333T>G (p.Phe445Val) c.1588T>G (p.Phe530Val) c.1054T>G (p.Phe352Val) c.145T>G (p.Phe49Val) n.840T>G c.1744T>G (p.Phe582Val) c.*725T>G (n.*725T>G) c.*744T>G (n.*744T>G) c.922T>G c.1669T>G (p.Phe557Val) c.*702T>G (n.*702T>G) c.589T>G (p.Phe197Val) c.301T>G (p.Phe101Val) c.1825T>G (p.Phe609Val) c.1627T>G (p.Phe543Val) c.781T>G (p.Phe261Val) c.736T>G (p.Phe246Val) c.568T>G (p.Phe190Val) c.442T>G (p.Phe148Val) n.2034T>G | |
12 | g.32611279T>A | CA384361278 | FGD4 | c.1334T>A (p.Phe445Tyr) c.1589T>A (p.Phe530Tyr) c.1055T>A (p.Phe352Tyr) c.146T>A (p.Phe49Tyr) n.841T>A c.1745T>A (p.Phe582Tyr) c.*726T>A (n.*726T>A) c.*745T>A (n.*745T>A) c.923T>A c.1670T>A (p.Phe557Tyr) c.*703T>A (n.*703T>A) c.590T>A (p.Phe197Tyr) c.302T>A (p.Phe101Tyr) c.1826T>A (p.Phe609Tyr) c.1628T>A (p.Phe543Tyr) c.782T>A (p.Phe261Tyr) c.737T>A (p.Phe246Tyr) c.569T>A (p.Phe190Tyr) c.443T>A (p.Phe148Tyr) n.2035T>A | |
12 | g.32611279T>C | CA384361276 | FGD4 | c.1334T>C (p.Phe445Ser) c.1589T>C (p.Phe530Ser) c.1055T>C (p.Phe352Ser) c.146T>C (p.Phe49Ser) n.841T>C c.1745T>C (p.Phe582Ser) c.*726T>C (n.*726T>C) c.*745T>C (n.*745T>C) c.923T>C c.1670T>C (p.Phe557Ser) c.*703T>C (n.*703T>C) c.590T>C (p.Phe197Ser) c.302T>C (p.Phe101Ser) c.1826T>C (p.Phe609Ser) c.1628T>C (p.Phe543Ser) c.782T>C (p.Phe261Ser) c.737T>C (p.Phe246Ser) c.569T>C (p.Phe190Ser) c.443T>C (p.Phe148Ser) n.2035T>C | |
12 | g.32611279T>G | CA384361280 | FGD4 | c.1334T>G (p.Phe445Cys) c.1589T>G (p.Phe530Cys) c.1055T>G (p.Phe352Cys) c.146T>G (p.Phe49Cys) n.841T>G c.1745T>G (p.Phe582Cys) c.*726T>G (n.*726T>G) c.*745T>G (n.*745T>G) c.923T>G c.1670T>G (p.Phe557Cys) c.*703T>G (n.*703T>G) c.590T>G (p.Phe197Cys) c.302T>G (p.Phe101Cys) c.1826T>G (p.Phe609Cys) c.1628T>G (p.Phe543Cys) c.782T>G (p.Phe261Cys) c.737T>G (p.Phe246Cys) c.569T>G (p.Phe190Cys) c.443T>G (p.Phe148Cys) n.2035T>G | |
12 | g.32611280C>A | CA384361282 | FGD4 | c.1335C>A (p.Phe445Leu) c.1590C>A (p.Phe530Leu) c.1056C>A (p.Phe352Leu) c.147C>A (p.Phe49Leu) n.842C>A c.1746C>A (p.Phe582Leu) c.*727C>A (n.*727C>A) c.*746C>A (n.*746C>A) c.924C>A c.1671C>A (p.Phe557Leu) c.*704C>A (n.*704C>A) c.591C>A (p.Phe197Leu) c.303C>A (p.Phe101Leu) c.1827C>A (p.Phe609Leu) c.1629C>A (p.Phe543Leu) c.783C>A (p.Phe261Leu) c.738C>A (p.Phe246Leu) c.570C>A (p.Phe190Leu) c.444C>A (p.Phe148Leu) n.2036C>A | |
12 | g.32611280C>G | CA384361286 | FGD4 | c.1335C>G (p.Phe445Leu) c.1590C>G (p.Phe530Leu) c.1056C>G (p.Phe352Leu) c.147C>G (p.Phe49Leu) n.842C>G c.1746C>G (p.Phe582Leu) c.*727C>G (n.*727C>G) c.*746C>G (n.*746C>G) c.924C>G c.1671C>G (p.Phe557Leu) c.*704C>G (n.*704C>G) c.591C>G (p.Phe197Leu) c.303C>G (p.Phe101Leu) c.1827C>G (p.Phe609Leu) c.1629C>G (p.Phe543Leu) c.783C>G (p.Phe261Leu) c.738C>G (p.Phe246Leu) c.570C>G (p.Phe190Leu) c.444C>G (p.Phe148Leu) n.2036C>G | gnomAD v4 |
12 | g.32611280C>T | CA479167909 | FGD4 | c.1335C>T (p.Phe445=) c.1590C>T (p.Phe530=) c.1056C>T (p.Phe352=) c.147C>T (p.Phe49=) n.842C>T c.1746C>T (p.Phe582=) c.*727C>T (n.*727C>T) c.*746C>T (n.*746C>T) c.924C>T c.1671C>T (p.Phe557=) c.*704C>T (n.*704C>T) c.591C>T (p.Phe197=) c.303C>T (p.Phe101=) c.1827C>T (p.Phe609=) c.1629C>T (p.Phe543=) c.783C>T (p.Phe261=) c.738C>T (p.Phe246=) c.570C>T (p.Phe190=) c.444C>T (p.Phe148=) n.2036C>T | |
12 | g.32611281T>A | CA384361288 | FGD4 | c.1336T>A (p.Leu446Ile) c.1591T>A (p.Leu531Ile) c.1057T>A (p.Leu353Ile) c.148T>A (p.Leu50Ile) n.843T>A c.1747T>A (p.Leu583Ile) c.*728T>A (n.*728T>A) c.*747T>A (n.*747T>A) c.925T>A c.1672T>A (p.Leu558Ile) c.*705T>A (n.*705T>A) c.592T>A (p.Leu198Ile) c.304T>A (p.Leu102Ile) c.1828T>A (p.Leu610Ile) c.1630T>A (p.Leu544Ile) c.784T>A (p.Leu262Ile) c.739T>A (p.Leu247Ile) c.571T>A (p.Leu191Ile) c.445T>A (p.Leu149Ile) n.2037T>A | |
12 | g.32611281T>C | CA479167910 | FGD4 | c.1336T>C (p.Leu446=) c.1591T>C (p.Leu531=) c.1057T>C (p.Leu353=) c.148T>C (p.Leu50=) n.843T>C c.1747T>C (p.Leu583=) c.*728T>C (n.*728T>C) c.*747T>C (n.*747T>C) c.925T>C c.1672T>C (p.Leu558=) c.*705T>C (n.*705T>C) c.592T>C (p.Leu198=) c.304T>C (p.Leu102=) c.1828T>C (p.Leu610=) c.1630T>C (p.Leu544=) c.784T>C (p.Leu262=) c.739T>C (p.Leu247=) c.571T>C (p.Leu191=) c.445T>C (p.Leu149=) n.2037T>C | |
12 | g.32611281T>G | CA384361289 | FGD4 | c.1336T>G (p.Leu446Val) c.1591T>G (p.Leu531Val) c.1057T>G (p.Leu353Val) c.148T>G (p.Leu50Val) n.843T>G c.1747T>G (p.Leu583Val) c.*728T>G (n.*728T>G) c.*747T>G (n.*747T>G) c.925T>G c.1672T>G (p.Leu558Val) c.*705T>G (n.*705T>G) c.592T>G (p.Leu198Val) c.304T>G (p.Leu102Val) c.1828T>G (p.Leu610Val) c.1630T>G (p.Leu544Val) c.784T>G (p.Leu262Val) c.739T>G (p.Leu247Val) c.571T>G (p.Leu191Val) c.445T>G (p.Leu149Val) n.2037T>G | |
12 | g.32611282T>A | CA384361291 | FGD4 | c.1337T>A (p.Leu446Ter) c.1592T>A (p.Leu531Ter) c.1058T>A (p.Leu353Ter) c.149T>A (p.Leu50Ter) n.844T>A c.1748T>A (p.Leu583Ter) c.*729T>A (n.*729T>A) c.*748T>A (n.*748T>A) c.926T>A c.1673T>A (p.Leu558Ter) c.*706T>A (n.*706T>A) c.593T>A (p.Leu198Ter) c.305T>A (p.Leu102Ter) c.1829T>A (p.Leu610Ter) c.1631T>A (p.Leu544Ter) c.785T>A (p.Leu262Ter) c.740T>A (p.Leu247Ter) c.572T>A (p.Leu191Ter) c.446T>A (p.Leu149Ter) n.2038T>A | |
12 | g.32611282T>C | CA384361293 | FGD4 | c.1337T>C (p.Leu446Ser) c.1592T>C (p.Leu531Ser) c.1058T>C (p.Leu353Ser) c.149T>C (p.Leu50Ser) n.844T>C c.1748T>C (p.Leu583Ser) c.*729T>C (n.*729T>C) c.*748T>C (n.*748T>C) c.926T>C c.1673T>C (p.Leu558Ser) c.*706T>C (n.*706T>C) c.593T>C (p.Leu198Ser) c.305T>C (p.Leu102Ser) c.1829T>C (p.Leu610Ser) c.1631T>C (p.Leu544Ser) c.785T>C (p.Leu262Ser) c.740T>C (p.Leu247Ser) c.572T>C (p.Leu191Ser) c.446T>C (p.Leu149Ser) n.2038T>C | |
12 | g.32611282T>G | CA384361295 | FGD4 | c.1337T>G (p.Leu446Ter) c.1592T>G (p.Leu531Ter) c.1058T>G (p.Leu353Ter) c.149T>G (p.Leu50Ter) n.844T>G c.1748T>G (p.Leu583Ter) c.*729T>G (n.*729T>G) c.*748T>G (n.*748T>G) c.926T>G c.1673T>G (p.Leu558Ter) c.*706T>G (n.*706T>G) c.593T>G (p.Leu198Ter) c.305T>G (p.Leu102Ter) c.1829T>G (p.Leu610Ter) c.1631T>G (p.Leu544Ter) c.785T>G (p.Leu262Ter) c.740T>G (p.Leu247Ter) c.572T>G (p.Leu191Ter) c.446T>G (p.Leu149Ter) n.2038T>G | |
12 | g.32611283A>C | CA384361297 | FGD4 | c.1338A>C (p.Leu446Phe) c.1593A>C (p.Leu531Phe) c.1059A>C (p.Leu353Phe) c.150A>C (p.Leu50Phe) n.845A>C c.1749A>C (p.Leu583Phe) c.*730A>C (n.*730A>C) c.*749A>C (n.*749A>C) c.927A>C c.1674A>C (p.Leu558Phe) c.*707A>C (n.*707A>C) c.594A>C (p.Leu198Phe) c.306A>C (p.Leu102Phe) c.1830A>C (p.Leu610Phe) c.1632A>C (p.Leu544Phe) c.786A>C (p.Leu262Phe) c.741A>C (p.Leu247Phe) c.573A>C (p.Leu191Phe) c.447A>C (p.Leu149Phe) n.2039A>C | |
12 | g.32611283A>G | CA479167911 | FGD4 | c.1338A>G (p.Leu446=) c.1593A>G (p.Leu531=) c.1059A>G (p.Leu353=) c.150A>G (p.Leu50=) n.845A>G c.1749A>G (p.Leu583=) c.*730A>G (n.*730A>G) c.*749A>G (n.*749A>G) c.927A>G c.1674A>G (p.Leu558=) c.*707A>G (n.*707A>G) c.594A>G (p.Leu198=) c.306A>G (p.Leu102=) c.1830A>G (p.Leu610=) c.1632A>G (p.Leu544=) c.786A>G (p.Leu262=) c.741A>G (p.Leu247=) c.573A>G (p.Leu191=) c.447A>G (p.Leu149=) n.2039A>G | |
12 | g.32611283A>T | CA384361299 | FGD4 | c.1338A>T (p.Leu446Phe) c.1593A>T (p.Leu531Phe) c.1059A>T (p.Leu353Phe) c.150A>T (p.Leu50Phe) n.845A>T c.1749A>T (p.Leu583Phe) c.*730A>T (n.*730A>T) c.*749A>T (n.*749A>T) c.927A>T c.1674A>T (p.Leu558Phe) c.*707A>T (n.*707A>T) c.594A>T (p.Leu198Phe) c.306A>T (p.Leu102Phe) c.1830A>T (p.Leu610Phe) c.1632A>T (p.Leu544Phe) c.786A>T (p.Leu262Phe) c.741A>T (p.Leu247Phe) c.573A>T (p.Leu191Phe) c.447A>T (p.Leu149Phe) n.2039A>T | |
12 | g.32611286_32611289del | CA2618214722 | FGD4 | c.1338+3_1338+6del c.1593+3_1593+6del c.1059+3_1059+6del c.150+3_150+6del n.845+3_845+6del c.1749+3_1749+6del c.*730+3_*730+6del c.*749+3_*749+6del c.927+3_927+6del c.1674+3_1674+6del c.*707+3_*707+6del c.594+3_594+6del c.306+3_306+6del c.1830+3_1830+6del c.1632+3_1632+6del c.786+3_786+6del c.741+3_741+6del c.573+3_573+6del c.447+3_447+6del | gnomAD v4 |
12 | g.32611284G>A | CA384361300 | FGD4 | c.1338+1G>A (n.1338+1G>A) c.1593+1G>A (n.1593+1G>A) c.1059+1G>A (n.1059+1G>A) c.150+1G>A (n.150+1G>A) n.845+1G>A c.1749+1G>A (n.1749+1G>A) c.*730+1G>A (n.*730+1G>A) c.*749+1G>A (n.*749+1G>A) c.927+1G>A c.1674+1G>A (n.1674+1G>A) c.*707+1G>A (n.*707+1G>A) c.594+1G>A (n.594+1G>A) c.306+1G>A (n.306+1G>A) c.1830+1G>A (n.1830+1G>A) c.1632+1G>A (n.1632+1G>A) c.786+1G>A (n.786+1G>A) c.741+1G>A (n.741+1G>A) c.573+1G>A (n.573+1G>A) c.447+1G>A (n.447+1G>A) | |
12 | g.32611284G>C | CA384361301 | FGD4 | c.1338+1G>C (n.1338+1G>C) c.1593+1G>C (n.1593+1G>C) c.1059+1G>C (n.1059+1G>C) c.150+1G>C (n.150+1G>C) n.845+1G>C c.1749+1G>C (n.1749+1G>C) c.*730+1G>C (n.*730+1G>C) c.*749+1G>C (n.*749+1G>C) c.927+1G>C c.1674+1G>C (n.1674+1G>C) c.*707+1G>C (n.*707+1G>C) c.594+1G>C (n.594+1G>C) c.306+1G>C (n.306+1G>C) c.1830+1G>C (n.1830+1G>C) c.1632+1G>C (n.1632+1G>C) c.786+1G>C (n.786+1G>C) c.741+1G>C (n.741+1G>C) c.573+1G>C (n.573+1G>C) c.447+1G>C (n.447+1G>C) | |
12 | g.32611284G>T | CA384361302 | FGD4 | c.1338+1G>T (n.1338+1G>T) c.1593+1G>T (n.1593+1G>T) c.1059+1G>T (n.1059+1G>T) c.150+1G>T (n.150+1G>T) n.845+1G>T c.1749+1G>T (n.1749+1G>T) c.*730+1G>T (n.*730+1G>T) c.*749+1G>T (n.*749+1G>T) c.927+1G>T c.1674+1G>T (n.1674+1G>T) c.*707+1G>T (n.*707+1G>T) c.594+1G>T (n.594+1G>T) c.306+1G>T (n.306+1G>T) c.1830+1G>T (n.1830+1G>T) c.1632+1G>T (n.1632+1G>T) c.786+1G>T (n.786+1G>T) c.741+1G>T (n.741+1G>T) c.573+1G>T (n.573+1G>T) c.447+1G>T (n.447+1G>T) | |
12 | g.32611285T>A | CA384361303 | FGD4 | c.1338+2T>A (n.1338+2T>A) c.1593+2T>A (n.1593+2T>A) c.1059+2T>A (n.1059+2T>A) c.150+2T>A (n.150+2T>A) n.845+2T>A c.1749+2T>A (n.1749+2T>A) c.*730+2T>A (n.*730+2T>A) c.*749+2T>A (n.*749+2T>A) c.927+2T>A c.1674+2T>A (n.1674+2T>A) c.*707+2T>A (n.*707+2T>A) c.594+2T>A (n.594+2T>A) c.306+2T>A (n.306+2T>A) c.1830+2T>A (n.1830+2T>A) c.1632+2T>A (n.1632+2T>A) c.786+2T>A (n.786+2T>A) c.741+2T>A (n.741+2T>A) c.573+2T>A (n.573+2T>A) c.447+2T>A (n.447+2T>A) | |
12 | g.32611285T>C | CA384361304 | FGD4 | c.1338+2T>C (n.1338+2T>C) c.1593+2T>C (n.1593+2T>C) c.1059+2T>C (n.1059+2T>C) c.150+2T>C (n.150+2T>C) n.845+2T>C c.1749+2T>C (n.1749+2T>C) c.*730+2T>C (n.*730+2T>C) c.*749+2T>C (n.*749+2T>C) c.927+2T>C c.1674+2T>C (n.1674+2T>C) c.*707+2T>C (n.*707+2T>C) c.594+2T>C (n.594+2T>C) c.306+2T>C (n.306+2T>C) c.1830+2T>C (n.1830+2T>C) c.1632+2T>C (n.1632+2T>C) c.786+2T>C (n.786+2T>C) c.741+2T>C (n.741+2T>C) c.573+2T>C (n.573+2T>C) c.447+2T>C (n.447+2T>C) | |
12 | g.32611285T>G | CA384361305 | FGD4 | c.1338+2T>G (n.1338+2T>G) c.1593+2T>G (n.1593+2T>G) c.1059+2T>G (n.1059+2T>G) c.150+2T>G (n.150+2T>G) n.845+2T>G c.1749+2T>G (n.1749+2T>G) c.*730+2T>G (n.*730+2T>G) c.*749+2T>G (n.*749+2T>G) c.927+2T>G c.1674+2T>G (n.1674+2T>G) c.*707+2T>G (n.*707+2T>G) c.594+2T>G (n.594+2T>G) c.306+2T>G (n.306+2T>G) c.1830+2T>G (n.1830+2T>G) c.1632+2T>G (n.1632+2T>G) c.786+2T>G (n.786+2T>G) c.741+2T>G (n.741+2T>G) c.573+2T>G (n.573+2T>G) c.447+2T>G (n.447+2T>G) | |
12 | g.32611286G>A | CA6506860 | FGD4 | c.1338+3G>A (n.1338+3G>A) c.1593+3G>A (n.1593+3G>A) c.1059+3G>A (n.1059+3G>A) c.150+3G>A (n.150+3G>A) n.845+3G>A c.1749+3G>A (n.1749+3G>A) c.*730+3G>A (n.*730+3G>A) c.*749+3G>A (n.*749+3G>A) c.927+3G>A c.1674+3G>A (n.1674+3G>A) c.*707+3G>A (n.*707+3G>A) c.594+3G>A (n.594+3G>A) c.306+3G>A (n.306+3G>A) c.1830+3G>A (n.1830+3G>A) c.1632+3G>A (n.1632+3G>A) c.786+3G>A (n.786+3G>A) c.741+3G>A (n.741+3G>A) c.573+3G>A (n.573+3G>A) c.447+3G>A (n.447+3G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.32611286G= | CA2026267840 | FGD4 | c.1338+3G= (n.1338+3G=) c.1593+3G= (n.1593+3G=) c.1059+3G= (n.1059+3G=) c.150+3G= (n.150+3G=) n.845+3G= c.1749+3G= (n.1749+3G=) c.*730+3G= (n.*730+3G=) c.*749+3G= (n.*749+3G=) c.927+3G= c.1674+3G= (n.1674+3G=) c.*707+3G= (n.*707+3G=) c.594+3G= (n.594+3G=) c.306+3G= (n.306+3G=) c.1830+3G= (n.1830+3G=) c.1632+3G= (n.1632+3G=) c.786+3G= (n.786+3G=) c.741+3G= (n.741+3G=) c.573+3G= (n.573+3G=) c.447+3G= (n.447+3G=) | |
12 | g.32611287A>G | CA2575117614 | FGD4 | c.1338+4A>G (n.1338+4A>G) c.1593+4A>G (n.1593+4A>G) c.1059+4A>G (n.1059+4A>G) c.150+4A>G (n.150+4A>G) n.845+4A>G c.1749+4A>G (n.1749+4A>G) c.*730+4A>G (n.*730+4A>G) c.*749+4A>G (n.*749+4A>G) c.927+4A>G c.1674+4A>G (n.1674+4A>G) c.*707+4A>G (n.*707+4A>G) c.594+4A>G (n.594+4A>G) c.306+4A>G (n.306+4A>G) c.1830+4A>G (n.1830+4A>G) c.1632+4A>G (n.1632+4A>G) c.786+4A>G (n.786+4A>G) c.741+4A>G (n.741+4A>G) c.573+4A>G (n.573+4A>G) c.447+4A>G (n.447+4A>G) | |
12 | g.32611288G>A | CA6506861 | FGD4 | c.1338+5G>A (n.1338+5G>A) c.1593+5G>A (n.1593+5G>A) c.1059+5G>A (n.1059+5G>A) c.150+5G>A (n.150+5G>A) n.845+5G>A c.1749+5G>A (n.1749+5G>A) c.*730+5G>A (n.*730+5G>A) c.*749+5G>A (n.*749+5G>A) c.927+5G>A c.1674+5G>A (n.1674+5G>A) c.*707+5G>A (n.*707+5G>A) c.594+5G>A (n.594+5G>A) c.306+5G>A (n.306+5G>A) c.1830+5G>A (n.1830+5G>A) c.1632+5G>A (n.1632+5G>A) c.786+5G>A (n.786+5G>A) c.741+5G>A (n.741+5G>A) c.573+5G>A (n.573+5G>A) c.447+5G>A (n.447+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.32611288G= | CA2026267843 | FGD4 | c.1338+5G= (n.1338+5G=) c.1593+5G= (n.1593+5G=) c.1059+5G= (n.1059+5G=) c.150+5G= (n.150+5G=) n.845+5G= c.1749+5G= (n.1749+5G=) c.*730+5G= (n.*730+5G=) c.*749+5G= (n.*749+5G=) c.927+5G= c.1674+5G= (n.1674+5G=) c.*707+5G= (n.*707+5G=) c.594+5G= (n.594+5G=) c.306+5G= (n.306+5G=) c.1830+5G= (n.1830+5G=) c.1632+5G= (n.1632+5G=) c.786+5G= (n.786+5G=) c.741+5G= (n.741+5G=) c.573+5G= (n.573+5G=) c.447+5G= (n.447+5G=) | |
12 | g.32611289T>C | CA946284623 | FGD4 | c.1338+6T>C (n.1338+6T>C) c.1593+6T>C (n.1593+6T>C) c.1059+6T>C (n.1059+6T>C) c.150+6T>C (n.150+6T>C) n.845+6T>C c.1749+6T>C (n.1749+6T>C) c.*730+6T>C (n.*730+6T>C) c.*749+6T>C (n.*749+6T>C) c.927+6T>C c.1674+6T>C (n.1674+6T>C) c.*707+6T>C (n.*707+6T>C) c.594+6T>C (n.594+6T>C) c.306+6T>C (n.306+6T>C) c.1830+6T>C (n.1830+6T>C) c.1632+6T>C (n.1632+6T>C) c.786+6T>C (n.786+6T>C) c.741+6T>C (n.741+6T>C) c.573+6T>C (n.573+6T>C) c.447+6T>C (n.447+6T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.32611289T= | CA2026267845 | FGD4 | c.1338+6T= (n.1338+6T=) c.1593+6T= (n.1593+6T=) c.1059+6T= (n.1059+6T=) c.150+6T= (n.150+6T=) n.845+6T= c.1749+6T= (n.1749+6T=) c.*730+6T= (n.*730+6T=) c.*749+6T= (n.*749+6T=) c.927+6T= c.1674+6T= (n.1674+6T=) c.*707+6T= (n.*707+6T=) c.594+6T= (n.594+6T=) c.306+6T= (n.306+6T=) c.1830+6T= (n.1830+6T=) c.1632+6T= (n.1632+6T=) c.786+6T= (n.786+6T=) c.741+6T= (n.741+6T=) c.573+6T= (n.573+6T=) c.447+6T= (n.447+6T=) | |
12 | g.32611291T>C | CA235216183 | FGD4 | c.1338+8T>C (n.1338+8T>C) c.1593+8T>C (n.1593+8T>C) c.1059+8T>C (n.1059+8T>C) c.150+8T>C (n.150+8T>C) n.845+8T>C c.1749+8T>C (n.1749+8T>C) c.*730+8T>C (n.*730+8T>C) c.*749+8T>C (n.*749+8T>C) c.927+8T>C c.1674+8T>C (n.1674+8T>C) c.*707+8T>C (n.*707+8T>C) c.594+8T>C (n.594+8T>C) c.306+8T>C (n.306+8T>C) c.1830+8T>C (n.1830+8T>C) c.1632+8T>C (n.1632+8T>C) c.786+8T>C (n.786+8T>C) c.741+8T>C (n.741+8T>C) c.573+8T>C (n.573+8T>C) c.447+8T>C (n.447+8T>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.32611291T= | CA2026267847 | FGD4 | c.1338+8T= (n.1338+8T=) c.1593+8T= (n.1593+8T=) c.1059+8T= (n.1059+8T=) c.150+8T= (n.150+8T=) n.845+8T= c.1749+8T= (n.1749+8T=) c.*730+8T= (n.*730+8T=) c.*749+8T= (n.*749+8T=) c.927+8T= c.1674+8T= (n.1674+8T=) c.*707+8T= (n.*707+8T=) c.594+8T= (n.594+8T=) c.306+8T= (n.306+8T=) c.1830+8T= (n.1830+8T=) c.1632+8T= (n.1632+8T=) c.786+8T= (n.786+8T=) c.741+8T= (n.741+8T=) c.573+8T= (n.573+8T=) c.447+8T= (n.447+8T=) | |
12 | g.32611293A= | CA2026267848 | FGD4 | c.1338+10A= (n.1338+10A=) c.1593+10A= (n.1593+10A=) c.1059+10A= (n.1059+10A=) c.150+10A= (n.150+10A=) n.845+10A= c.1749+10A= (n.1749+10A=) c.*730+10A= (n.*730+10A=) c.*749+10A= (n.*749+10A=) c.927+10A= c.1674+10A= (n.1674+10A=) c.*707+10A= (n.*707+10A=) c.594+10A= (n.594+10A=) c.306+10A= (n.306+10A=) c.1830+10A= (n.1830+10A=) c.1632+10A= (n.1632+10A=) c.786+10A= (n.786+10A=) c.741+10A= (n.741+10A=) c.573+10A= (n.573+10A=) c.447+10A= (n.447+10A=) | |
12 | g.32611293A>G | CA687442883 | FGD4 | c.1338+10A>G (n.1338+10A>G) c.1593+10A>G (n.1593+10A>G) c.1059+10A>G (n.1059+10A>G) c.150+10A>G (n.150+10A>G) n.845+10A>G c.1749+10A>G (n.1749+10A>G) c.*730+10A>G (n.*730+10A>G) c.*749+10A>G (n.*749+10A>G) c.927+10A>G c.1674+10A>G (n.1674+10A>G) c.*707+10A>G (n.*707+10A>G) c.594+10A>G (n.594+10A>G) c.306+10A>G (n.306+10A>G) c.1830+10A>G (n.1830+10A>G) c.1632+10A>G (n.1632+10A>G) c.786+10A>G (n.786+10A>G) c.741+10A>G (n.741+10A>G) c.573+10A>G (n.573+10A>G) c.447+10A>G (n.447+10A>G) | dbSNP gnomAD v4 |
12 | g.32611294T>C | CA604224697 | FGD4 | c.1338+11T>C (n.1338+11T>C) c.1593+11T>C (n.1593+11T>C) c.1059+11T>C (n.1059+11T>C) c.150+11T>C (n.150+11T>C) n.845+11T>C c.1749+11T>C (n.1749+11T>C) c.*730+11T>C (n.*730+11T>C) c.*749+11T>C (n.*749+11T>C) c.927+11T>C c.1674+11T>C (n.1674+11T>C) c.*707+11T>C (n.*707+11T>C) c.594+11T>C (n.594+11T>C) c.306+11T>C (n.306+11T>C) c.1830+11T>C (n.1830+11T>C) c.1632+11T>C (n.1632+11T>C) c.786+11T>C (n.786+11T>C) c.741+11T>C (n.741+11T>C) c.573+11T>C (n.573+11T>C) c.447+11T>C (n.447+11T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.32611294T= | CA2026267849 | FGD4 | c.1338+11T= (n.1338+11T=) c.1593+11T= (n.1593+11T=) c.1059+11T= (n.1059+11T=) c.150+11T= (n.150+11T=) n.845+11T= c.1749+11T= (n.1749+11T=) c.*730+11T= (n.*730+11T=) c.*749+11T= (n.*749+11T=) c.927+11T= c.1674+11T= (n.1674+11T=) c.*707+11T= (n.*707+11T=) c.594+11T= (n.594+11T=) c.306+11T= (n.306+11T=) c.1830+11T= (n.1830+11T=) c.1632+11T= (n.1632+11T=) c.786+11T= (n.786+11T=) c.741+11T= (n.741+11T=) c.573+11T= (n.573+11T=) c.447+11T= (n.447+11T=) | |
12 | g.32611295A>G | CA2575117615 | FGD4 | c.1338+12A>G (n.1338+12A>G) c.1593+12A>G (n.1593+12A>G) c.1059+12A>G (n.1059+12A>G) c.150+12A>G (n.150+12A>G) n.845+12A>G c.1749+12A>G (n.1749+12A>G) c.*730+12A>G (n.*730+12A>G) c.*749+12A>G (n.*749+12A>G) c.927+12A>G c.1674+12A>G (n.1674+12A>G) c.*707+12A>G (n.*707+12A>G) c.594+12A>G (n.594+12A>G) c.306+12A>G (n.306+12A>G) c.1830+12A>G (n.1830+12A>G) c.1632+12A>G (n.1632+12A>G) c.786+12A>G (n.786+12A>G) c.741+12A>G (n.741+12A>G) c.573+12A>G (n.573+12A>G) c.447+12A>G (n.447+12A>G) | |
12 | g.32611296G>A | CA6506862 | FGD4 | c.1338+13G>A (n.1338+13G>A) c.1593+13G>A (n.1593+13G>A) c.1059+13G>A (n.1059+13G>A) c.150+13G>A (n.150+13G>A) n.845+13G>A c.1749+13G>A (n.1749+13G>A) c.*730+13G>A (n.*730+13G>A) c.*749+13G>A (n.*749+13G>A) c.927+13G>A c.1674+13G>A (n.1674+13G>A) c.*707+13G>A (n.*707+13G>A) c.594+13G>A (n.594+13G>A) c.306+13G>A (n.306+13G>A) c.1830+13G>A (n.1830+13G>A) c.1632+13G>A (n.1632+13G>A) c.786+13G>A (n.786+13G>A) c.741+13G>A (n.741+13G>A) c.573+13G>A (n.573+13G>A) c.447+13G>A (n.447+13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.32611296G= | CA2026267851 | FGD4 | c.1338+13G= (n.1338+13G=) c.1593+13G= (n.1593+13G=) c.1059+13G= (n.1059+13G=) c.150+13G= (n.150+13G=) n.845+13G= c.1749+13G= (n.1749+13G=) c.*730+13G= (n.*730+13G=) c.*749+13G= (n.*749+13G=) c.927+13G= c.1674+13G= (n.1674+13G=) c.*707+13G= (n.*707+13G=) c.594+13G= (n.594+13G=) c.306+13G= (n.306+13G=) c.1830+13G= (n.1830+13G=) c.1632+13G= (n.1632+13G=) c.786+13G= (n.786+13G=) c.741+13G= (n.741+13G=) c.573+13G= (n.573+13G=) c.447+13G= (n.447+13G=) | |
12 | g.32611296_32611297insC | CA604224705 | FGD4 | c.1338+13_1338+14insC (n.1338+13_1338+14insC) c.1593+13_1593+14insC (n.1593+13_1593+14insC) c.1059+13_1059+14insC (n.1059+13_1059+14insC) c.150+13_150+14insC (n.150+13_150+14insC) n.845+13_845+14insC c.1749+13_1749+14insC (n.1749+13_1749+14insC) c.*730+13_*730+14insC (n.*730+13_*730+14insC) c.*749+13_*749+14insC (n.*749+13_*749+14insC) c.927+13_927+14insC c.1674+13_1674+14insC (n.1674+13_1674+14insC) c.*707+13_*707+14insC (n.*707+13_*707+14insC) c.594+13_594+14insC (n.594+13_594+14insC) c.306+13_306+14insC (n.306+13_306+14insC) c.1830+13_1830+14insC (n.1830+13_1830+14insC) c.1632+13_1632+14insC (n.1632+13_1632+14insC) c.786+13_786+14insC (n.786+13_786+14insC) c.741+13_741+14insC (n.741+13_741+14insC) c.573+13_573+14insC (n.573+13_573+14insC) c.447+13_447+14insC (n.447+13_447+14insC) | gnomAD v2 |
12 | g.32611298G>A | CA946284625 | FGD4 | c.1338+15G>A (n.1338+15G>A) c.1593+15G>A (n.1593+15G>A) c.1059+15G>A (n.1059+15G>A) c.150+15G>A (n.150+15G>A) n.845+15G>A c.1749+15G>A (n.1749+15G>A) c.*730+15G>A (n.*730+15G>A) c.*749+15G>A (n.*749+15G>A) c.927+15G>A c.1674+15G>A (n.1674+15G>A) c.*707+15G>A (n.*707+15G>A) c.594+15G>A (n.594+15G>A) c.306+15G>A (n.306+15G>A) c.1830+15G>A (n.1830+15G>A) c.1632+15G>A (n.1632+15G>A) c.786+15G>A (n.786+15G>A) c.741+15G>A (n.741+15G>A) c.573+15G>A (n.573+15G>A) c.447+15G>A (n.447+15G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.32611298G= | CA2026267852 | FGD4 | c.1338+15G= (n.1338+15G=) c.1593+15G= (n.1593+15G=) c.1059+15G= (n.1059+15G=) c.150+15G= (n.150+15G=) n.845+15G= c.1749+15G= (n.1749+15G=) c.*730+15G= (n.*730+15G=) c.*749+15G= (n.*749+15G=) c.927+15G= c.1674+15G= (n.1674+15G=) c.*707+15G= (n.*707+15G=) c.594+15G= (n.594+15G=) c.306+15G= (n.306+15G=) c.1830+15G= (n.1830+15G=) c.1632+15G= (n.1632+15G=) c.786+15G= (n.786+15G=) c.741+15G= (n.741+15G=) c.573+15G= (n.573+15G=) c.447+15G= (n.447+15G=) | |
12 | g.32611301G>A | CA2618214723 | FGD4 | c.1338+18G>A (n.1338+18G>A) c.1593+18G>A (n.1593+18G>A) c.1059+18G>A (n.1059+18G>A) c.150+18G>A (n.150+18G>A) n.845+18G>A c.1749+18G>A (n.1749+18G>A) c.*730+18G>A (n.*730+18G>A) c.*749+18G>A (n.*749+18G>A) c.927+18G>A c.1674+18G>A (n.1674+18G>A) c.*707+18G>A (n.*707+18G>A) c.594+18G>A (n.594+18G>A) c.306+18G>A (n.306+18G>A) c.1830+18G>A (n.1830+18G>A) c.1632+18G>A (n.1632+18G>A) c.786+18G>A (n.786+18G>A) c.741+18G>A (n.741+18G>A) c.573+18G>A (n.573+18G>A) c.447+18G>A (n.447+18G>A) | gnomAD v4 |
12 | g.32611301G>C | CA2573148560 | FGD4 | c.1338+18G>C (n.1338+18G>C) c.1593+18G>C (n.1593+18G>C) c.1059+18G>C (n.1059+18G>C) c.150+18G>C (n.150+18G>C) n.845+18G>C c.1749+18G>C (n.1749+18G>C) c.*730+18G>C (n.*730+18G>C) c.*749+18G>C (n.*749+18G>C) c.927+18G>C c.1674+18G>C (n.1674+18G>C) c.*707+18G>C (n.*707+18G>C) c.594+18G>C (n.594+18G>C) c.306+18G>C (n.306+18G>C) c.1830+18G>C (n.1830+18G>C) c.1632+18G>C (n.1632+18G>C) c.786+18G>C (n.786+18G>C) c.741+18G>C (n.741+18G>C) c.573+18G>C (n.573+18G>C) c.447+18G>C (n.447+18G>C) | ClinVar dbSNP gnomAD v4 |
12 | g.32611305A>C | CA2507908130 | FGD4 | c.1338+22A>C (n.1338+22A>C) c.1593+22A>C (n.1593+22A>C) c.1059+22A>C (n.1059+22A>C) c.150+22A>C (n.150+22A>C) n.845+22A>C c.1749+22A>C (n.1749+22A>C) c.*730+22A>C (n.*730+22A>C) c.*749+22A>C (n.*749+22A>C) c.927+22A>C c.1674+22A>C (n.1674+22A>C) c.*707+22A>C (n.*707+22A>C) c.594+22A>C (n.594+22A>C) c.306+22A>C (n.306+22A>C) c.1830+22A>C (n.1830+22A>C) c.1632+22A>C (n.1632+22A>C) c.786+22A>C (n.786+22A>C) c.741+22A>C (n.741+22A>C) c.573+22A>C (n.573+22A>C) c.447+22A>C (n.447+22A>C) | gnomAD v4 |
12 | g.32611306G>A | CA2575117616 | FGD4 | c.1338+23G>A (n.1338+23G>A) c.1593+23G>A (n.1593+23G>A) c.1059+23G>A (n.1059+23G>A) c.150+23G>A (n.150+23G>A) n.845+23G>A c.1749+23G>A (n.1749+23G>A) c.*730+23G>A (n.*730+23G>A) c.*749+23G>A (n.*749+23G>A) c.927+23G>A c.1674+23G>A (n.1674+23G>A) c.*707+23G>A (n.*707+23G>A) c.594+23G>A (n.594+23G>A) c.306+23G>A (n.306+23G>A) c.1830+23G>A (n.1830+23G>A) c.1632+23G>A (n.1632+23G>A) c.786+23G>A (n.786+23G>A) c.741+23G>A (n.741+23G>A) c.573+23G>A (n.573+23G>A) c.447+23G>A (n.447+23G>A) | |
12 | g.32611306G>T | CA654666501 | FGD4 | c.1338+23G>T (n.1338+23G>T) c.1593+23G>T (n.1593+23G>T) c.1059+23G>T (n.1059+23G>T) c.150+23G>T (n.150+23G>T) n.845+23G>T c.1749+23G>T (n.1749+23G>T) c.*730+23G>T (n.*730+23G>T) c.*749+23G>T (n.*749+23G>T) c.927+23G>T c.1674+23G>T (n.1674+23G>T) c.*707+23G>T (n.*707+23G>T) c.594+23G>T (n.594+23G>T) c.306+23G>T (n.306+23G>T) c.1830+23G>T (n.1830+23G>T) c.1632+23G>T (n.1632+23G>T) c.786+23G>T (n.786+23G>T) c.741+23G>T (n.741+23G>T) c.573+23G>T (n.573+23G>T) c.447+23G>T (n.447+23G>T) | COSMIC |
12 | g.32611308C>A | CA2618214724 | FGD4 | c.1338+25C>A (n.1338+25C>A) c.1593+25C>A (n.1593+25C>A) c.1059+25C>A (n.1059+25C>A) c.150+25C>A (n.150+25C>A) n.845+25C>A c.1749+25C>A (n.1749+25C>A) c.*730+25C>A (n.*730+25C>A) c.*749+25C>A (n.*749+25C>A) c.927+25C>A c.1674+25C>A (n.1674+25C>A) c.*707+25C>A (n.*707+25C>A) c.594+25C>A (n.594+25C>A) c.306+25C>A (n.306+25C>A) c.1830+25C>A (n.1830+25C>A) c.1632+25C>A (n.1632+25C>A) c.786+25C>A (n.786+25C>A) c.741+25C>A (n.741+25C>A) c.573+25C>A (n.573+25C>A) c.447+25C>A (n.447+25C>A) | gnomAD v4 |
12 | g.32611311A= | CA2026267854 | FGD4 | c.1338+28A= (n.1338+28A=) c.1593+28A= (n.1593+28A=) c.1059+28A= (n.1059+28A=) c.150+28A= (n.150+28A=) n.845+28A= c.1749+28A= (n.1749+28A=) c.*730+28A= (n.*730+28A=) c.*749+28A= (n.*749+28A=) c.927+28A= c.1674+28A= (n.1674+28A=) c.*707+28A= (n.*707+28A=) c.594+28A= (n.594+28A=) c.306+28A= (n.306+28A=) c.1830+28A= (n.1830+28A=) c.1632+28A= (n.1632+28A=) c.786+28A= (n.786+28A=) c.741+28A= (n.741+28A=) c.573+28A= (n.573+28A=) c.447+28A= (n.447+28A=) | |
12 | g.32611311A>G | CA604224707 | FGD4 | c.1338+28A>G (n.1338+28A>G) c.1593+28A>G (n.1593+28A>G) c.1059+28A>G (n.1059+28A>G) c.150+28A>G (n.150+28A>G) n.845+28A>G c.1749+28A>G (n.1749+28A>G) c.*730+28A>G (n.*730+28A>G) c.*749+28A>G (n.*749+28A>G) c.927+28A>G c.1674+28A>G (n.1674+28A>G) c.*707+28A>G (n.*707+28A>G) c.594+28A>G (n.594+28A>G) c.306+28A>G (n.306+28A>G) c.1830+28A>G (n.1830+28A>G) c.1632+28A>G (n.1632+28A>G) c.786+28A>G (n.786+28A>G) c.741+28A>G (n.741+28A>G) c.573+28A>G (n.573+28A>G) c.447+28A>G (n.447+28A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.32611312T>C | CA235216190 | FGD4 | c.1338+29T>C (n.1338+29T>C) c.1593+29T>C (n.1593+29T>C) c.1059+29T>C (n.1059+29T>C) c.150+29T>C (n.150+29T>C) n.845+29T>C c.1749+29T>C (n.1749+29T>C) c.*730+29T>C (n.*730+29T>C) c.*749+29T>C (n.*749+29T>C) c.927+29T>C c.1674+29T>C (n.1674+29T>C) c.*707+29T>C (n.*707+29T>C) c.594+29T>C (n.594+29T>C) c.306+29T>C (n.306+29T>C) c.1830+29T>C (n.1830+29T>C) c.1632+29T>C (n.1632+29T>C) c.786+29T>C (n.786+29T>C) c.741+29T>C (n.741+29T>C) c.573+29T>C (n.573+29T>C) c.447+29T>C (n.447+29T>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.32611312T= | CA2026267856 | FGD4 | c.1338+29T= (n.1338+29T=) c.1593+29T= (n.1593+29T=) c.1059+29T= (n.1059+29T=) c.150+29T= (n.150+29T=) n.845+29T= c.1749+29T= (n.1749+29T=) c.*730+29T= (n.*730+29T=) c.*749+29T= (n.*749+29T=) c.927+29T= c.1674+29T= (n.1674+29T=) c.*707+29T= (n.*707+29T=) c.594+29T= (n.594+29T=) c.306+29T= (n.306+29T=) c.1830+29T= (n.1830+29T=) c.1632+29T= (n.1632+29T=) c.786+29T= (n.786+29T=) c.741+29T= (n.741+29T=) c.573+29T= (n.573+29T=) c.447+29T= (n.447+29T=) | |
12 | g.32611314A>G | CA2618214725 | FGD4 | c.1338+31A>G (n.1338+31A>G) c.1593+31A>G (n.1593+31A>G) c.1059+31A>G (n.1059+31A>G) c.150+31A>G (n.150+31A>G) n.845+31A>G c.1749+31A>G (n.1749+31A>G) c.*730+31A>G (n.*730+31A>G) c.*749+31A>G (n.*749+31A>G) c.927+31A>G c.1674+31A>G (n.1674+31A>G) c.*707+31A>G (n.*707+31A>G) c.594+31A>G (n.594+31A>G) c.306+31A>G (n.306+31A>G) c.1830+31A>G (n.1830+31A>G) c.1632+31A>G (n.1632+31A>G) c.786+31A>G (n.786+31A>G) c.741+31A>G (n.741+31A>G) c.573+31A>G (n.573+31A>G) c.447+31A>G (n.447+31A>G) | gnomAD v4 |
12 | g.32611315G>C | CA2618214726 | FGD4 | c.1338+32G>C (n.1338+32G>C) c.1593+32G>C (n.1593+32G>C) c.1059+32G>C (n.1059+32G>C) c.150+32G>C (n.150+32G>C) n.845+32G>C c.1749+32G>C (n.1749+32G>C) c.*730+32G>C (n.*730+32G>C) c.*749+32G>C (n.*749+32G>C) c.927+32G>C c.1674+32G>C (n.1674+32G>C) c.*707+32G>C (n.*707+32G>C) c.594+32G>C (n.594+32G>C) c.306+32G>C (n.306+32G>C) c.1830+32G>C (n.1830+32G>C) c.1632+32G>C (n.1632+32G>C) c.786+32G>C (n.786+32G>C) c.741+32G>C (n.741+32G>C) c.573+32G>C (n.573+32G>C) c.447+32G>C (n.447+32G>C) | gnomAD v4 |
12 | g.32611317A>G | CA2618214727 | FGD4 | c.1338+34A>G (n.1338+34A>G) c.1593+34A>G (n.1593+34A>G) c.1059+34A>G (n.1059+34A>G) c.150+34A>G (n.150+34A>G) n.845+34A>G c.1749+34A>G (n.1749+34A>G) c.*730+34A>G (n.*730+34A>G) c.*749+34A>G (n.*749+34A>G) c.927+34A>G c.1674+34A>G (n.1674+34A>G) c.*707+34A>G (n.*707+34A>G) c.594+34A>G (n.594+34A>G) c.306+34A>G (n.306+34A>G) c.1830+34A>G (n.1830+34A>G) c.1632+34A>G (n.1632+34A>G) c.786+34A>G (n.786+34A>G) c.741+34A>G (n.741+34A>G) c.573+34A>G (n.573+34A>G) c.447+34A>G (n.447+34A>G) | gnomAD v4 |
12 | g.32611318T>A | CA946284629 | FGD4 | c.1338+35T>A (n.1338+35T>A) c.1593+35T>A (n.1593+35T>A) c.1059+35T>A (n.1059+35T>A) c.150+35T>A (n.150+35T>A) n.845+35T>A c.1749+35T>A (n.1749+35T>A) c.*730+35T>A (n.*730+35T>A) c.*749+35T>A (n.*749+35T>A) c.927+35T>A c.1674+35T>A (n.1674+35T>A) c.*707+35T>A (n.*707+35T>A) c.594+35T>A (n.594+35T>A) c.306+35T>A (n.306+35T>A) c.1830+35T>A (n.1830+35T>A) c.1632+35T>A (n.1632+35T>A) c.786+35T>A (n.786+35T>A) c.741+35T>A (n.741+35T>A) c.573+35T>A (n.573+35T>A) c.447+35T>A (n.447+35T>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.32611318T>C | CA2618214728 | FGD4 | c.1338+35T>C (n.1338+35T>C) c.1593+35T>C (n.1593+35T>C) c.1059+35T>C (n.1059+35T>C) c.150+35T>C (n.150+35T>C) n.845+35T>C c.1749+35T>C (n.1749+35T>C) c.*730+35T>C (n.*730+35T>C) c.*749+35T>C (n.*749+35T>C) c.927+35T>C c.1674+35T>C (n.1674+35T>C) c.*707+35T>C (n.*707+35T>C) c.594+35T>C (n.594+35T>C) c.306+35T>C (n.306+35T>C) c.1830+35T>C (n.1830+35T>C) c.1632+35T>C (n.1632+35T>C) c.786+35T>C (n.786+35T>C) c.741+35T>C (n.741+35T>C) c.573+35T>C (n.573+35T>C) c.447+35T>C (n.447+35T>C) | gnomAD v4 |
12 | g.32611318T= | CA2026267859 | FGD4 | c.1338+35T= (n.1338+35T=) c.1593+35T= (n.1593+35T=) c.1059+35T= (n.1059+35T=) c.150+35T= (n.150+35T=) n.845+35T= c.1749+35T= (n.1749+35T=) c.*730+35T= (n.*730+35T=) c.*749+35T= (n.*749+35T=) c.927+35T= c.1674+35T= (n.1674+35T=) c.*707+35T= (n.*707+35T=) c.594+35T= (n.594+35T=) c.306+35T= (n.306+35T=) c.1830+35T= (n.1830+35T=) c.1632+35T= (n.1632+35T=) c.786+35T= (n.786+35T=) c.741+35T= (n.741+35T=) c.573+35T= (n.573+35T=) c.447+35T= (n.447+35T=) | |
12 | g.32611321T>A | CA2618214729 | FGD4 | c.1338+38T>A (n.1338+38T>A) c.1593+38T>A (n.1593+38T>A) c.1059+38T>A (n.1059+38T>A) c.150+38T>A (n.150+38T>A) n.845+38T>A c.1749+38T>A (n.1749+38T>A) c.*730+38T>A (n.*730+38T>A) c.*749+38T>A (n.*749+38T>A) c.927+38T>A c.1674+38T>A (n.1674+38T>A) c.*707+38T>A (n.*707+38T>A) c.594+38T>A (n.594+38T>A) c.306+38T>A (n.306+38T>A) c.1830+38T>A (n.1830+38T>A) c.1632+38T>A (n.1632+38T>A) c.786+38T>A (n.786+38T>A) c.741+38T>A (n.741+38T>A) c.573+38T>A (n.573+38T>A) c.447+38T>A (n.447+38T>A) | gnomAD v4 |
12 | g.32611322A>G | CA2618214730 | FGD4 | c.1338+39A>G (n.1338+39A>G) c.1593+39A>G (n.1593+39A>G) c.1059+39A>G (n.1059+39A>G) c.150+39A>G (n.150+39A>G) n.845+39A>G c.1749+39A>G (n.1749+39A>G) c.*730+39A>G (n.*730+39A>G) c.*749+39A>G (n.*749+39A>G) c.927+39A>G c.1674+39A>G (n.1674+39A>G) c.*707+39A>G (n.*707+39A>G) c.594+39A>G (n.594+39A>G) c.306+39A>G (n.306+39A>G) c.1830+39A>G (n.1830+39A>G) c.1632+39A>G (n.1632+39A>G) c.786+39A>G (n.786+39A>G) c.741+39A>G (n.741+39A>G) c.573+39A>G (n.573+39A>G) c.447+39A>G (n.447+39A>G) | gnomAD v4 |