Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48963145G>ACA47326806FSHRc.1676C>T (p.Pro559Leu)
c.1598C>T (p.Pro533Leu)
c.1778C>T (p.Pro593Leu)
c.1445C>T (p.Pro482Leu)
c.884C>T (p.Pro295Leu)
c.956+5553C>T (n.956+5553C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.48963145G>CCA346767128FSHRc.1676C>G (p.Pro559Arg)
c.1598C>G (p.Pro533Arg)
c.1778C>G (p.Pro593Arg)
c.1445C>G (p.Pro482Arg)
c.884C>G (p.Pro295Arg)
c.956+5553C>G (n.956+5553C>G)
 gnomAD v4
2g.48963145G=CA1248751025FSHRc.1676C= (p.Pro559=)
c.1598C= (p.Pro533=)
c.1778C= (p.Pro593=)
c.1445C= (p.Pro482=)
c.884C= (p.Pro295=)
c.956+5553C= (n.956+5553C=)
2g.48963145G>TCA346767129FSHRc.1676C>A (p.Pro559His)
c.1598C>A (p.Pro533His)
c.1778C>A (p.Pro593His)
c.1445C>A (p.Pro482His)
c.884C>A (p.Pro295His)
c.956+5553C>A (n.956+5553C>A)
2g.48963146G>ACA346767130FSHRc.1675C>T (p.Pro559Ser)
c.1597C>T (p.Pro533Ser)
c.1777C>T (p.Pro593Ser)
c.1444C>T (p.Pro482Ser)
c.883C>T (p.Pro295Ser)
c.956+5552C>T (n.956+5552C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.48963146G>CCA346767131FSHRc.1675C>G (p.Pro559Ala)
c.1597C>G (p.Pro533Ala)
c.1777C>G (p.Pro593Ala)
c.1444C>G (p.Pro482Ala)
c.883C>G (p.Pro295Ala)
c.956+5552C>G (n.956+5552C>G)
2g.48963146G=CA1248751026FSHRc.1675C= (p.Pro559=)
c.1597C= (p.Pro533=)
c.1777C= (p.Pro593=)
c.1444C= (p.Pro482=)
c.883C= (p.Pro295=)
c.956+5552C= (n.956+5552C=)
2g.48963146G>TCA346767132FSHRc.1675C>A (p.Pro559Thr)
c.1597C>A (p.Pro533Thr)
c.1777C>A (p.Pro593Thr)
c.1444C>A (p.Pro482Thr)
c.883C>A (p.Pro295Thr)
c.956+5552C>A (n.956+5552C>A)
2g.48963147G>ACA426124789FSHRc.1674C>T (p.Asn558=)
c.1596C>T (p.Asn532=)
c.1776C>T (p.Asn592=)
c.1443C>T (p.Asn481=)
c.882C>T (p.Asn294=)
c.956+5551C>T (n.956+5551C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48963147G>CCA346767133FSHRc.1674C>G (p.Asn558Lys)
c.1596C>G (p.Asn532Lys)
c.1776C>G (p.Asn592Lys)
c.1443C>G (p.Asn481Lys)
c.882C>G (p.Asn294Lys)
c.956+5551C>G (n.956+5551C>G)
 gnomAD v4
2g.48963147G=CA1248751027FSHRc.1674C= (p.Asn558=)
c.1596C= (p.Asn532=)
c.1776C= (p.Asn592=)
c.1443C= (p.Asn481=)
c.882C= (p.Asn294=)
c.956+5551C= (n.956+5551C=)
2g.48963147G>TCA346767134FSHRc.1674C>A (p.Asn558Lys)
c.1596C>A (p.Asn532Lys)
c.1776C>A (p.Asn592Lys)
c.1443C>A (p.Asn481Lys)
c.882C>A (p.Asn294Lys)
c.956+5551C>A (n.956+5551C>A)
 COSMIC
2g.48963148T>ACA346767135FSHRc.1673A>T (p.Asn558Ile)
c.1595A>T (p.Asn532Ile)
c.1775A>T (p.Asn592Ile)
c.1442A>T (p.Asn481Ile)
c.881A>T (p.Asn294Ile)
c.956+5550A>T (n.956+5550A>T)
2g.48963148T>CCA346767136FSHRc.1673A>G (p.Asn558Ser)
c.1595A>G (p.Asn532Ser)
c.1775A>G (p.Asn592Ser)
c.1442A>G (p.Asn481Ser)
c.881A>G (p.Asn294Ser)
c.956+5550A>G (n.956+5550A>G)
 COSMIC
2g.48963148T>GCA346767137FSHRc.1673A>C (p.Asn558Thr)
c.1595A>C (p.Asn532Thr)
c.1775A>C (p.Asn592Thr)
c.1442A>C (p.Asn481Thr)
c.881A>C (p.Asn294Thr)
c.956+5550A>C (n.956+5550A>C)
2g.48963149T>ACA346767138FSHRc.1672A>T (p.Asn558Tyr)
c.1594A>T (p.Asn532Tyr)
c.1774A>T (p.Asn592Tyr)
c.1441A>T (p.Asn481Tyr)
c.880A>T (p.Asn294Tyr)
c.956+5549A>T (n.956+5549A>T)
2g.48963149T>CCA346767139FSHRc.1672A>G (p.Asn558Asp)
c.1594A>G (p.Asn532Asp)
c.1774A>G (p.Asn592Asp)
c.1441A>G (p.Asn481Asp)
c.880A>G (p.Asn294Asp)
c.956+5549A>G (n.956+5549A>G)
2g.48963149T>GCA1653614FSHRc.1672A>C (p.Asn558His)
c.1594A>C (p.Asn532His)
c.1774A>C (p.Asn592His)
c.1441A>C (p.Asn481His)
c.880A>C (p.Asn294His)
c.956+5549A>C (n.956+5549A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48963149T=CA1248751028FSHRc.1672A= (p.Asn558=)
c.1594A= (p.Asn532=)
c.1774A= (p.Asn592=)
c.1441A= (p.Asn481=)
c.880A= (p.Asn294=)
c.956+5549A= (n.956+5549A=)
2g.48963150C>ACA426124795FSHRc.1671G>T (p.Arg557=)
c.1593G>T (p.Arg531=)
c.1773G>T (p.Arg591=)
c.1440G>T (p.Arg480=)
c.879G>T (p.Arg293=)
c.956+5548G>T (n.956+5548G>T)
2g.48963150C>GCA426124794FSHRc.1671G>C (p.Arg557=)
c.1593G>C (p.Arg531=)
c.1773G>C (p.Arg591=)
c.1440G>C (p.Arg480=)
c.879G>C (p.Arg293=)
c.956+5548G>C (n.956+5548G>C)
2g.48963150C>TCA426124793FSHRc.1671G>A (p.Arg557=)
c.1593G>A (p.Arg531=)
c.1773G>A (p.Arg591=)
c.1440G>A (p.Arg480=)
c.879G>A (p.Arg293=)
c.956+5548G>A (n.956+5548G>A)
2g.48963151C>ACA346767140FSHRc.1670G>T (p.Arg557Leu)
c.1592G>T (p.Arg531Leu)
c.1772G>T (p.Arg591Leu)
c.1439G>T (p.Arg480Leu)
c.878G>T (p.Arg293Leu)
c.956+5547G>T (n.956+5547G>T)
2g.48963151C=CA1248751029FSHRc.1670G= (p.Arg557=)
c.1592G= (p.Arg531=)
c.1772G= (p.Arg591=)
c.1439G= (p.Arg480=)
c.878G= (p.Arg293=)
c.956+5547G= (n.956+5547G=)
2g.48963151C>GCA346767141FSHRc.1670G>C (p.Arg557Pro)
c.1592G>C (p.Arg531Pro)
c.1772G>C (p.Arg591Pro)
c.1439G>C (p.Arg480Pro)
c.878G>C (p.Arg293Pro)
c.956+5547G>C (n.956+5547G>C)
2g.48963151C>TCA1653615FSHRc.1670G>A (p.Arg557Gln)
c.1592G>A (p.Arg531Gln)
c.1772G>A (p.Arg591Gln)
c.1439G>A (p.Arg480Gln)
c.878G>A (p.Arg293Gln)
c.956+5547G>A (n.956+5547G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.48963152G>ACA1653616FSHRc.1669C>T (p.Arg557Trp)
c.1591C>T (p.Arg531Trp)
c.1771C>T (p.Arg591Trp)
c.1438C>T (p.Arg480Trp)
c.877C>T (p.Arg293Trp)
c.956+5546C>T (n.956+5546C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48963152G>CCA346767142FSHRc.1669C>G (p.Arg557Gly)
c.1591C>G (p.Arg531Gly)
c.1771C>G (p.Arg591Gly)
c.1438C>G (p.Arg480Gly)
c.877C>G (p.Arg293Gly)
c.956+5546C>G (n.956+5546C>G)
2g.48963152G=CA1248751030FSHRc.1669C= (p.Arg557=)
c.1591C= (p.Arg531=)
c.1771C= (p.Arg591=)
c.1438C= (p.Arg480=)
c.877C= (p.Arg293=)
c.956+5546C= (n.956+5546C=)
2g.48963152G>TCA426124797FSHRc.1669C>A (p.Arg557=)
c.1591C>A (p.Arg531=)
c.1771C>A (p.Arg591=)
c.1438C>A (p.Arg480=)
c.877C>A (p.Arg293=)
c.956+5546C>A (n.956+5546C>A)
 COSMIC
2g.48963153C>ACA1653617FSHRc.1668G>T (p.Val556=)
c.1590G>T (p.Val530=)
c.1770G>T (p.Val590=)
c.1437G>T (p.Val479=)
c.876G>T (p.Val292=)
c.956+5545G>T (n.956+5545G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48963153C=CA1248751031FSHRc.1668G= (p.Val556=)
c.1590G= (p.Val530=)
c.1770G= (p.Val590=)
c.1437G= (p.Val479=)
c.876G= (p.Val292=)
c.956+5545G= (n.956+5545G=)
2g.48963153C>GCA426124799FSHRc.1668G>C (p.Val556=)
c.1590G>C (p.Val530=)
c.1770G>C (p.Val590=)
c.1437G>C (p.Val479=)
c.876G>C (p.Val292=)
c.956+5545G>C (n.956+5545G>C)
2g.48963153C>TCA426124798FSHRc.1668G>A (p.Val556=)
c.1590G>A (p.Val530=)
c.1770G>A (p.Val590=)
c.1437G>A (p.Val479=)
c.876G>A (p.Val292=)
c.956+5545G>A (n.956+5545G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.48963154A>CCA346767143FSHRc.1667T>G (p.Val556Gly)
c.1589T>G (p.Val530Gly)
c.1769T>G (p.Val590Gly)
c.1436T>G (p.Val479Gly)
c.875T>G (p.Val292Gly)
c.956+5544T>G (n.956+5544T>G)
 gnomAD v4
2g.48963154A>GCA346767144FSHRc.1667T>C (p.Val556Ala)
c.1589T>C (p.Val530Ala)
c.1769T>C (p.Val590Ala)
c.1436T>C (p.Val479Ala)
c.875T>C (p.Val292Ala)
c.956+5544T>C (n.956+5544T>C)
2g.48963154A>TCA346767145FSHRc.1667T>A (p.Val556Glu)
c.1589T>A (p.Val530Glu)
c.1769T>A (p.Val590Glu)
c.1436T>A (p.Val479Glu)
c.875T>A (p.Val292Glu)
c.956+5544T>A (n.956+5544T>A)
 COSMIC
2g.48963155C>ACA346767146FSHRc.1666G>T (p.Val556Leu)
c.1588G>T (p.Val530Leu)
c.1768G>T (p.Val590Leu)
c.1435G>T (p.Val479Leu)
c.874G>T (p.Val292Leu)
c.956+5543G>T (n.956+5543G>T)
2g.48963155C=CA1248751032FSHRc.1666G= (p.Val556=)
c.1588G= (p.Val530=)
c.1768G= (p.Val590=)
c.1435G= (p.Val479=)
c.874G= (p.Val292=)
c.956+5543G= (n.956+5543G=)
2g.48963155C>GCA346767147FSHRc.1666G>C (p.Val556Leu)
c.1588G>C (p.Val530Leu)
c.1768G>C (p.Val590Leu)
c.1435G>C (p.Val479Leu)
c.874G>C (p.Val292Leu)
c.956+5543G>C (n.956+5543G>C)
2g.48963155C>TCA346767148FSHRc.1666G>A (p.Val556Met)
c.1588G>A (p.Val530Met)
c.1768G>A (p.Val590Met)
c.1435G>A (p.Val479Met)
c.874G>A (p.Val292Met)
c.956+5543G>A (n.956+5543G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.48963156_48963181delCA645522314FSHRc.1641_1666del (p.Cys548AlafsTer10)
c.1563_1588del (p.Cys522AlafsTer10)
c.1743_1768del (p.Cys582AlafsTer10)
c.1410_1435del (p.Cys471AlafsTer10)
c.849_874del (p.Cys284AlafsTer10)
c.956+5518_956+5543del (n.956+5518_956+5543del)
 COSMIC
2g.48963156T>ACA426124803FSHRc.1665A>T (p.Thr555=)
c.1587A>T (p.Thr529=)
c.1767A>T (p.Thr589=)
c.1434A>T (p.Thr478=)
c.873A>T (p.Thr291=)
c.956+5542A>T (n.956+5542A>T)
 COSMIC
2g.48963156T>CCA426124804FSHRc.1665A>G (p.Thr555=)
c.1587A>G (p.Thr529=)
c.1767A>G (p.Thr589=)
c.1434A>G (p.Thr478=)
c.873A>G (p.Thr291=)
c.956+5542A>G (n.956+5542A>G)
2g.48963156T>GCA426124805FSHRc.1665A>C (p.Thr555=)
c.1587A>C (p.Thr529=)
c.1767A>C (p.Thr589=)
c.1434A>C (p.Thr478=)
c.873A>C (p.Thr291=)
c.956+5542A>C (n.956+5542A>C)
2g.48963157G>ACA1653618FSHRc.1664C>T (p.Thr555Ile)
c.1586C>T (p.Thr529Ile)
c.1766C>T (p.Thr589Ile)
c.1433C>T (p.Thr478Ile)
c.872C>T (p.Thr291Ile)
c.956+5541C>T (n.956+5541C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48963157G>CCA346767149FSHRc.1664C>G (p.Thr555Arg)
c.1586C>G (p.Thr529Arg)
c.1766C>G (p.Thr589Arg)
c.1433C>G (p.Thr478Arg)
c.872C>G (p.Thr291Arg)
c.956+5541C>G (n.956+5541C>G)
2g.48963157G=CA1248751033FSHRc.1664C= (p.Thr555=)
c.1586C= (p.Thr529=)
c.1766C= (p.Thr589=)
c.1433C= (p.Thr478=)
c.872C= (p.Thr291=)
c.956+5541C= (n.956+5541C=)
2g.48963157G>TCA346767150FSHRc.1664C>A (p.Thr555Lys)
c.1586C>A (p.Thr529Lys)
c.1766C>A (p.Thr589Lys)
c.1433C>A (p.Thr478Lys)
c.872C>A (p.Thr291Lys)
c.956+5541C>A (n.956+5541C>A)
 gnomAD v4
2g.48963158T>ACA346767151FSHRc.1663A>T (p.Thr555Ser)
c.1585A>T (p.Thr529Ser)
c.1765A>T (p.Thr589Ser)
c.1432A>T (p.Thr478Ser)
c.871A>T (p.Thr291Ser)
c.956+5540A>T (n.956+5540A>T)
2g.48963158T>CCA346767152FSHRc.1663A>G (p.Thr555Ala)
c.1585A>G (p.Thr529Ala)
c.1765A>G (p.Thr589Ala)
c.1432A>G (p.Thr478Ala)
c.871A>G (p.Thr291Ala)
c.956+5540A>G (n.956+5540A>G)
2g.48963158T>GCA346767153FSHRc.1663A>C (p.Thr555Pro)
c.1585A>C (p.Thr529Pro)
c.1765A>C (p.Thr589Pro)
c.1432A>C (p.Thr478Pro)
c.871A>C (p.Thr291Pro)
c.956+5540A>C (n.956+5540A>C)
2g.48963159G>ACA426124809FSHRc.1662C>T (p.Leu554=)
c.1584C>T (p.Leu528=)
c.1764C>T (p.Leu588=)
c.1431C>T (p.Leu477=)
c.870C>T (p.Leu290=)
c.956+5539C>T (n.956+5539C>T)
2g.48963159G>CCA426124810FSHRc.1662C>G (p.Leu554=)
c.1584C>G (p.Leu528=)
c.1764C>G (p.Leu588=)
c.1431C>G (p.Leu477=)
c.870C>G (p.Leu290=)
c.956+5539C>G (n.956+5539C>G)
2g.48963159G>TCA426124811FSHRc.1662C>A (p.Leu554=)
c.1584C>A (p.Leu528=)
c.1764C>A (p.Leu588=)
c.1431C>A (p.Leu477=)
c.870C>A (p.Leu290=)
c.956+5539C>A (n.956+5539C>A)
2g.48963160A>CCA346767154FSHRc.1661T>G (p.Leu554Arg)
c.1583T>G (p.Leu528Arg)
c.1763T>G (p.Leu588Arg)
c.1430T>G (p.Leu477Arg)
c.869T>G (p.Leu290Arg)
c.956+5538T>G (n.956+5538T>G)
2g.48963160A>GCA346767156FSHRc.1661T>C (p.Leu554Pro)
c.1583T>C (p.Leu528Pro)
c.1763T>C (p.Leu588Pro)
c.1430T>C (p.Leu477Pro)
c.869T>C (p.Leu290Pro)
c.956+5538T>C (n.956+5538T>C)
2g.48963160A>TCA346767155FSHRc.1661T>A (p.Leu554His)
c.1583T>A (p.Leu528His)
c.1763T>A (p.Leu588His)
c.1430T>A (p.Leu477His)
c.869T>A (p.Leu290His)
c.956+5538T>A (n.956+5538T>A)
 gnomAD v4
2g.48963161G>ACA47326854FSHRc.1660C>T (p.Leu554Phe)
c.1582C>T (p.Leu528Phe)
c.1762C>T (p.Leu588Phe)
c.1429C>T (p.Leu477Phe)
c.868C>T (p.Leu290Phe)
c.956+5537C>T (n.956+5537C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48963161G>CCA346767157FSHRc.1660C>G (p.Leu554Val)
c.1582C>G (p.Leu528Val)
c.1762C>G (p.Leu588Val)
c.1429C>G (p.Leu477Val)
c.868C>G (p.Leu290Val)
c.956+5537C>G (n.956+5537C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.48963161G=CA1248751034FSHRc.1660C= (p.Leu554=)
c.1582C= (p.Leu528=)
c.1762C= (p.Leu588=)
c.1429C= (p.Leu477=)
c.868C= (p.Leu290=)
c.956+5537C= (n.956+5537C=)
2g.48963161G>TCA346767158FSHRc.1660C>A (p.Leu554Ile)
c.1582C>A (p.Leu528Ile)
c.1762C>A (p.Leu588Ile)
c.1429C>A (p.Leu477Ile)
c.868C>A (p.Leu290Ile)
c.956+5537C>A (n.956+5537C>A)
 COSMIC
2g.48963162G>ACA426124813FSHRc.1659C>T (p.Tyr553=)
c.1581C>T (p.Tyr527=)
c.1761C>T (p.Tyr587=)
c.1428C>T (p.Tyr476=)
c.867C>T (p.Tyr289=)
c.956+5536C>T (n.956+5536C>T)
 gnomAD v4
2g.48963162G>CCA346767159FSHRc.1659C>G (p.Tyr553Ter)
c.1581C>G (p.Tyr527Ter)
c.1761C>G (p.Tyr587Ter)
c.1428C>G (p.Tyr476Ter)
c.867C>G (p.Tyr289Ter)
c.956+5536C>G (n.956+5536C>G)
2g.48963162G=CA1248751035FSHRc.1659C= (p.Tyr553=)
c.1581C= (p.Tyr527=)
c.1761C= (p.Tyr587=)
c.1428C= (p.Tyr476=)
c.867C= (p.Tyr289=)
c.956+5536C= (n.956+5536C=)
2g.48963162G>TCA1653619FSHRc.1659C>A (p.Tyr553Ter)
c.1581C>A (p.Tyr527Ter)
c.1761C>A (p.Tyr587Ter)
c.1428C>A (p.Tyr476Ter)
c.867C>A (p.Tyr289Ter)
c.956+5536C>A (n.956+5536C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48963163T>ACA346767160FSHRc.1658A>T (p.Tyr553Phe)
c.1580A>T (p.Tyr527Phe)
c.1760A>T (p.Tyr587Phe)
c.1427A>T (p.Tyr476Phe)
c.866A>T (p.Tyr289Phe)
c.956+5535A>T (n.956+5535A>T)
2g.48963163T>CCA47326881FSHRc.1658A>G (p.Tyr553Cys)
c.1580A>G (p.Tyr527Cys)
c.1760A>G (p.Tyr587Cys)
c.1427A>G (p.Tyr476Cys)
c.866A>G (p.Tyr289Cys)
c.956+5535A>G (n.956+5535A>G)
 dbSNP gnomAD v4
2g.48963163T>GCA1653620FSHRc.1658A>C (p.Tyr553Ser)
c.1580A>C (p.Tyr527Ser)
c.1760A>C (p.Tyr587Ser)
c.1427A>C (p.Tyr476Ser)
c.866A>C (p.Tyr289Ser)
c.956+5535A>C (n.956+5535A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48963163T=CA1248751036FSHRc.1658A= (p.Tyr553=)
c.1580A= (p.Tyr527=)
c.1760A= (p.Tyr587=)
c.1427A= (p.Tyr476=)
c.866A= (p.Tyr289=)
c.956+5535A= (n.956+5535A=)
2g.48963164A>CCA346767161FSHRc.1657T>G (p.Tyr553Asp)
c.1579T>G (p.Tyr527Asp)
c.1759T>G (p.Tyr587Asp)
c.1426T>G (p.Tyr476Asp)
c.865T>G (p.Tyr289Asp)
c.956+5534T>G (n.956+5534T>G)
2g.48963164A>GCA346767162FSHRc.1657T>C (p.Tyr553His)
c.1579T>C (p.Tyr527His)
c.1759T>C (p.Tyr587His)
c.1426T>C (p.Tyr476His)
c.865T>C (p.Tyr289His)
c.956+5534T>C (n.956+5534T>C)
2g.48963164A>TCA346767163FSHRc.1657T>A (p.Tyr553Asn)
c.1579T>A (p.Tyr527Asn)
c.1759T>A (p.Tyr587Asn)
c.1426T>A (p.Tyr476Asn)
c.865T>A (p.Tyr289Asn)
c.956+5534T>A (n.956+5534T>A)
2g.48963165G>ACA426124814FSHRc.1656C>T (p.Ile552=)
c.1578C>T (p.Ile526=)
c.1758C>T (p.Ile586=)
c.1425C>T (p.Ile475=)
c.864C>T (p.Ile288=)
c.956+5533C>T (n.956+5533C>T)
2g.48963165G>CCA346767164FSHRc.1656C>G (p.Ile552Met)
c.1578C>G (p.Ile526Met)
c.1758C>G (p.Ile586Met)
c.1425C>G (p.Ile475Met)
c.864C>G (p.Ile288Met)
c.956+5533C>G (n.956+5533C>G)
 dbSNP
2g.48963165G>TCA426124815FSHRc.1656C>A (p.Ile552=)
c.1578C>A (p.Ile526=)
c.1758C>A (p.Ile586=)
c.1425C>A (p.Ile475=)
c.864C>A (p.Ile288=)
c.956+5533C>A (n.956+5533C>A)
 COSMIC
2g.48963166A>CCA346767167FSHRc.1655T>G (p.Ile552Ser)
c.1577T>G (p.Ile526Ser)
c.1757T>G (p.Ile586Ser)
c.1424T>G (p.Ile475Ser)
c.863T>G (p.Ile288Ser)
c.956+5532T>G (n.956+5532T>G)
2g.48963166A>GCA346767165FSHRc.1655T>C (p.Ile552Thr)
c.1577T>C (p.Ile526Thr)
c.1757T>C (p.Ile586Thr)
c.1424T>C (p.Ile475Thr)
c.863T>C (p.Ile288Thr)
c.956+5532T>C (n.956+5532T>C)
2g.48963166A>TCA346767166FSHRc.1655T>A (p.Ile552Asn)
c.1577T>A (p.Ile526Asn)
c.1757T>A (p.Ile586Asn)
c.1424T>A (p.Ile475Asn)
c.863T>A (p.Ile288Asn)
c.956+5532T>A (n.956+5532T>A)
2g.48963167T>ACA346767168FSHRc.1654A>T (p.Ile552Phe)
c.1576A>T (p.Ile526Phe)
c.1756A>T (p.Ile586Phe)
c.1423A>T (p.Ile475Phe)
c.862A>T (p.Ile288Phe)
c.956+5531A>T (n.956+5531A>T)
2g.48963167T>CCA346767169FSHRc.1654A>G (p.Ile552Val)
c.1576A>G (p.Ile526Val)
c.1756A>G (p.Ile586Val)
c.1423A>G (p.Ile475Val)
c.862A>G (p.Ile288Val)
c.956+5531A>G (n.956+5531A>G)
2g.48963167T>GCA346767170FSHRc.1654A>C (p.Ile552Leu)
c.1576A>C (p.Ile526Leu)
c.1756A>C (p.Ile586Leu)
c.1423A>C (p.Ile475Leu)
c.862A>C (p.Ile288Leu)
c.956+5531A>C (n.956+5531A>C)
2g.48963168G>ACA426124816FSHRc.1653C>T (p.His551=)
c.1575C>T (p.His525=)
c.1755C>T (p.His585=)
c.1422C>T (p.His474=)
c.861C>T (p.His287=)
c.956+5530C>T (n.956+5530C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.48963168G>CCA346767171FSHRc.1653C>G (p.His551Gln)
c.1575C>G (p.His525Gln)
c.1755C>G (p.His585Gln)
c.1422C>G (p.His474Gln)
c.861C>G (p.His287Gln)
c.956+5530C>G (n.956+5530C>G)
2g.48963168G=CA1248751037FSHRc.1653C= (p.His551=)
c.1575C= (p.His525=)
c.1755C= (p.His585=)
c.1422C= (p.His474=)
c.861C= (p.His287=)
c.956+5530C= (n.956+5530C=)
2g.48963168G>TCA346767172FSHRc.1653C>A (p.His551Gln)
c.1575C>A (p.His525Gln)
c.1755C>A (p.His585Gln)
c.1422C>A (p.His474Gln)
c.861C>A (p.His287Gln)
c.956+5530C>A (n.956+5530C>A)
2g.48963169T>ACA346767173FSHRc.1652A>T (p.His551Leu)
c.1574A>T (p.His525Leu)
c.1754A>T (p.His585Leu)
c.1421A>T (p.His474Leu)
c.860A>T (p.His287Leu)
c.956+5529A>T (n.956+5529A>T)
2g.48963169T>CCA346767174FSHRc.1652A>G (p.His551Arg)
c.1574A>G (p.His525Arg)
c.1754A>G (p.His585Arg)
c.1421A>G (p.His474Arg)
c.860A>G (p.His287Arg)
c.956+5529A>G (n.956+5529A>G)
2g.48963169T>GCA346767175FSHRc.1652A>C (p.His551Pro)
c.1574A>C (p.His525Pro)
c.1754A>C (p.His585Pro)
c.1421A>C (p.His474Pro)
c.860A>C (p.His287Pro)
c.956+5529A>C (n.956+5529A>C)
2g.48963170G>ACA346767176FSHRc.1651C>T (p.His551Tyr)
c.1573C>T (p.His525Tyr)
c.1753C>T (p.His585Tyr)
c.1420C>T (p.His474Tyr)
c.859C>T (p.His287Tyr)
c.956+5528C>T (n.956+5528C>T)
 dbSNP COSMIC
2g.48963170G>CCA346767177FSHRc.1651C>G (p.His551Asp)
c.1573C>G (p.His525Asp)
c.1753C>G (p.His585Asp)
c.1420C>G (p.His474Asp)
c.859C>G (p.His287Asp)
c.956+5528C>G (n.956+5528C>G)
2g.48963170G=CA1248751038FSHRc.1651C= (p.His551=)
c.1573C= (p.His525=)
c.1753C= (p.His585=)
c.1420C= (p.His474=)
c.859C= (p.His287=)
c.956+5528C= (n.956+5528C=)
2g.48963170G>TCA346767178FSHRc.1651C>A (p.His551Asn)
c.1573C>A (p.His525Asn)
c.1753C>A (p.His585Asn)
c.1420C>A (p.His474Asn)
c.859C>A (p.His287Asn)
c.956+5528C>A (n.956+5528C>A)
2g.48963171G>ACA426124817FSHRc.1650C>T (p.Ile550=)
c.1572C>T (p.Ile524=)
c.1752C>T (p.Ile584=)
c.1419C>T (p.Ile473=)
c.858C>T (p.Ile286=)
c.956+5527C>T (n.956+5527C>T)
2g.48963171G>CCA346767179FSHRc.1650C>G (p.Ile550Met)
c.1572C>G (p.Ile524Met)
c.1752C>G (p.Ile584Met)
c.1419C>G (p.Ile473Met)
c.858C>G (p.Ile286Met)
c.956+5527C>G (n.956+5527C>G)
 gnomAD v4
2g.48963171G=CA1248751039FSHRc.1650C= (p.Ile550=)
c.1572C= (p.Ile524=)
c.1752C= (p.Ile584=)
c.1419C= (p.Ile473=)
c.858C= (p.Ile286=)
c.956+5527C= (n.956+5527C=)
2g.48963171G>TCA1653621FSHRc.1650C>A (p.Ile550=)
c.1572C>A (p.Ile524=)
c.1752C>A (p.Ile584=)
c.1419C>A (p.Ile473=)
c.858C>A (p.Ile286=)
c.956+5527C>A (n.956+5527C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48963172A=CA1248751040FSHRc.1649T= (p.Ile550=)
c.1571T= (p.Ile524=)
c.1751T= (p.Ile584=)
c.1418T= (p.Ile473=)
c.857T= (p.Ile286=)
c.956+5526T= (n.956+5526T=)
2g.48963172A>CCA346767180FSHRc.1649T>G (p.Ile550Ser)
c.1571T>G (p.Ile524Ser)
c.1751T>G (p.Ile584Ser)
c.1418T>G (p.Ile473Ser)
c.857T>G (p.Ile286Ser)
c.956+5526T>G (n.956+5526T>G)
2g.48963172A>GCA346767181FSHRc.1649T>C (p.Ile550Thr)
c.1571T>C (p.Ile524Thr)
c.1751T>C (p.Ile584Thr)
c.1418T>C (p.Ile473Thr)
c.857T>C (p.Ile286Thr)
c.956+5526T>C (n.956+5526T>C)
2g.48963172A>TCA346767182FSHRc.1649T>A (p.Ile550Asn)
c.1571T>A (p.Ile524Asn)
c.1751T>A (p.Ile584Asn)
c.1418T>A (p.Ile473Asn)
c.857T>A (p.Ile286Asn)
c.956+5526T>A (n.956+5526T>A)
 dbSNP
2g.48963173T>ACA346767183FSHRc.1648A>T (p.Ile550Phe)
c.1570A>T (p.Ile524Phe)
c.1750A>T (p.Ile584Phe)
c.1417A>T (p.Ile473Phe)
c.856A>T (p.Ile286Phe)
c.956+5525A>T (n.956+5525A>T)
2g.48963173T>CCA346767184FSHRc.1648A>G (p.Ile550Val)
c.1570A>G (p.Ile524Val)
c.1750A>G (p.Ile584Val)
c.1417A>G (p.Ile473Val)
c.856A>G (p.Ile286Val)
c.956+5525A>G (n.956+5525A>G)
2g.48963173T>GCA346767185FSHRc.1648A>C (p.Ile550Leu)
c.1570A>C (p.Ile524Leu)
c.1750A>C (p.Ile584Leu)
c.1417A>C (p.Ile473Leu)
c.856A>C (p.Ile286Leu)
c.956+5525A>C (n.956+5525A>C)
2g.48963174A=CA1248751041FSHRc.1647T= (p.Tyr549=)
c.1569T= (p.Tyr523=)
c.1749T= (p.Tyr583=)
c.1416T= (p.Tyr472=)
c.855T= (p.Tyr285=)
c.956+5524T= (n.956+5524T=)
2g.48963174A>CCA346767186FSHRc.1647T>G (p.Tyr549Ter)
c.1569T>G (p.Tyr523Ter)
c.1749T>G (p.Tyr583Ter)
c.1416T>G (p.Tyr472Ter)
c.855T>G (p.Tyr285Ter)
c.956+5524T>G (n.956+5524T>G)
2g.48963174A>GCA426124818FSHRc.1647T>C (p.Tyr549=)
c.1569T>C (p.Tyr523=)
c.1749T>C (p.Tyr583=)
c.1416T>C (p.Tyr472=)
c.855T>C (p.Tyr285=)
c.956+5524T>C (n.956+5524T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.48963174A>TCA346767187FSHRc.1647T>A (p.Tyr549Ter)
c.1569T>A (p.Tyr523Ter)
c.1749T>A (p.Tyr583Ter)
c.1416T>A (p.Tyr472Ter)
c.855T>A (p.Tyr285Ter)
c.956+5524T>A (n.956+5524T>A)
2g.48963175T>ACA346767188FSHRc.1646A>T (p.Tyr549Phe)
c.1568A>T (p.Tyr523Phe)
c.1748A>T (p.Tyr583Phe)
c.1415A>T (p.Tyr472Phe)
c.854A>T (p.Tyr285Phe)
c.956+5523A>T (n.956+5523A>T)
2g.48963175T>CCA346767189FSHRc.1646A>G (p.Tyr549Cys)
c.1568A>G (p.Tyr523Cys)
c.1748A>G (p.Tyr583Cys)
c.1415A>G (p.Tyr472Cys)
c.854A>G (p.Tyr285Cys)
c.956+5523A>G (n.956+5523A>G)
2g.48963175T>GCA346767190FSHRc.1646A>C (p.Tyr549Ser)
c.1568A>C (p.Tyr523Ser)
c.1748A>C (p.Tyr583Ser)
c.1415A>C (p.Tyr472Ser)
c.854A>C (p.Tyr285Ser)
c.956+5523A>C (n.956+5523A>C)
2g.48963176A>CCA346767191FSHRc.1645T>G (p.Tyr549Asp)
c.1567T>G (p.Tyr523Asp)
c.1747T>G (p.Tyr583Asp)
c.1414T>G (p.Tyr472Asp)
c.853T>G (p.Tyr285Asp)
c.956+5522T>G (n.956+5522T>G)
2g.48963176A>GCA346767192FSHRc.1645T>C (p.Tyr549His)
c.1567T>C (p.Tyr523His)
c.1747T>C (p.Tyr583His)
c.1414T>C (p.Tyr472His)
c.853T>C (p.Tyr285His)
c.956+5522T>C (n.956+5522T>C)
2g.48963176A>TCA346767193FSHRc.1645T>A (p.Tyr549Asn)
c.1567T>A (p.Tyr523Asn)
c.1747T>A (p.Tyr583Asn)
c.1414T>A (p.Tyr472Asn)
c.853T>A (p.Tyr285Asn)
c.956+5522T>A (n.956+5522T>A)
2g.48963177G>ACA426124819FSHRc.1644C>T (p.Cys548=)
c.1566C>T (p.Cys522=)
c.1746C>T (p.Cys582=)
c.1413C>T (p.Cys471=)
c.852C>T (p.Cys284=)
c.956+5521C>T (n.956+5521C>T)
2g.48963177G>CCA346767195FSHRc.1644C>G (p.Cys548Trp)
c.1566C>G (p.Cys522Trp)
c.1746C>G (p.Cys582Trp)
c.1413C>G (p.Cys471Trp)
c.852C>G (p.Cys284Trp)
c.956+5521C>G (n.956+5521C>G)
 dbSNP
2g.48963177G=CA1248751042FSHRc.1644C= (p.Cys548=)
c.1566C= (p.Cys522=)
c.1746C= (p.Cys582=)
c.1413C= (p.Cys471=)
c.852C= (p.Cys284=)
c.956+5521C= (n.956+5521C=)
2g.48963177G>TCA346767194FSHRc.1644C>A (p.Cys548Ter)
c.1566C>A (p.Cys522Ter)
c.1746C>A (p.Cys582Ter)
c.1413C>A (p.Cys471Ter)
c.852C>A (p.Cys284Ter)
c.956+5521C>A (n.956+5521C>A)
 dbSNP gnomAD v2
2g.48963178C>ACA346767196FSHRc.1643G>T (p.Cys548Phe)
c.1565G>T (p.Cys522Phe)
c.1745G>T (p.Cys582Phe)
c.1412G>T (p.Cys471Phe)
c.851G>T (p.Cys284Phe)
c.956+5520G>T (n.956+5520G>T)
2g.48963178C=CA1248751043FSHRc.1643G= (p.Cys548=)
c.1565G= (p.Cys522=)
c.1745G= (p.Cys582=)
c.1412G= (p.Cys471=)
c.851G= (p.Cys284=)
c.956+5520G= (n.956+5520G=)
2g.48963178C>GCA346767197FSHRc.1643G>C (p.Cys548Ser)
c.1565G>C (p.Cys522Ser)
c.1745G>C (p.Cys582Ser)
c.1412G>C (p.Cys471Ser)
c.851G>C (p.Cys284Ser)
c.956+5520G>C (n.956+5520G>C)
2g.48963178C>TCA1653622FSHRc.1643G>A (p.Cys548Tyr)
c.1565G>A (p.Cys522Tyr)
c.1745G>A (p.Cys582Tyr)
c.1412G>A (p.Cys471Tyr)
c.851G>A (p.Cys284Tyr)
c.956+5520G>A (n.956+5520G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48963179A=CA1248751044FSHRc.1642T= (p.Cys548=)
c.1564T= (p.Cys522=)
c.1744T= (p.Cys582=)
c.1411T= (p.Cys471=)
c.850T= (p.Cys284=)
c.956+5519T= (n.956+5519T=)
2g.48963179A>CCA346767198FSHRc.1642T>G (p.Cys548Gly)
c.1564T>G (p.Cys522Gly)
c.1744T>G (p.Cys582Gly)
c.1411T>G (p.Cys471Gly)
c.850T>G (p.Cys284Gly)
c.956+5519T>G (n.956+5519T>G)
 dbSNP gnomAD v3 gnomAD v4
2g.48963179A>GCA346767199FSHRc.1642T>C (p.Cys548Arg)
c.1564T>C (p.Cys522Arg)
c.1744T>C (p.Cys582Arg)
c.1411T>C (p.Cys471Arg)
c.850T>C (p.Cys284Arg)
c.956+5519T>C (n.956+5519T>C)
2g.48963179A>TCA346767200FSHRc.1642T>A (p.Cys548Ser)
c.1564T>A (p.Cys522Ser)
c.1744T>A (p.Cys582Ser)
c.1411T>A (p.Cys471Ser)
c.850T>A (p.Cys284Ser)
c.956+5519T>A (n.956+5519T>A)
2g.48963180G>ACA426124820FSHRc.1641C>T (p.Gly547=)
c.1563C>T (p.Gly521=)
c.1743C>T (p.Gly581=)
c.1410C>T (p.Gly470=)
c.849C>T (p.Gly283=)
c.956+5518C>T (n.956+5518C>T)
2g.48963180G>CCA426124822FSHRc.1641C>G (p.Gly547=)
c.1563C>G (p.Gly521=)
c.1743C>G (p.Gly581=)
c.1410C>G (p.Gly470=)
c.849C>G (p.Gly283=)
c.956+5518C>G (n.956+5518C>G)
2g.48963180G>TCA426124821FSHRc.1641C>A (p.Gly547=)
c.1563C>A (p.Gly521=)
c.1743C>A (p.Gly581=)
c.1410C>A (p.Gly470=)
c.849C>A (p.Gly283=)
c.956+5518C>A (n.956+5518C>A)
2g.48963181C>ACA47326900FSHRc.1640G>T (p.Gly547Val)
c.1562G>T (p.Gly521Val)
c.1742G>T (p.Gly581Val)
c.1409G>T (p.Gly470Val)
c.848G>T (p.Gly283Val)
c.956+5517G>T (n.956+5517G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.48963181C=CA1248751045FSHRc.1640G= (p.Gly547=)
c.1562G= (p.Gly521=)
c.1742G= (p.Gly581=)
c.1409G= (p.Gly470=)
c.848G= (p.Gly283=)
c.956+5517G= (n.956+5517G=)
2g.48963181C>GCA346767201FSHRc.1640G>C (p.Gly547Ala)
c.1562G>C (p.Gly521Ala)
c.1742G>C (p.Gly581Ala)
c.1409G>C (p.Gly470Ala)
c.848G>C (p.Gly283Ala)
c.956+5517G>C (n.956+5517G>C)
2g.48963181C>TCA346767202FSHRc.1640G>A (p.Gly547Asp)
c.1562G>A (p.Gly521Asp)
c.1742G>A (p.Gly581Asp)
c.1409G>A (p.Gly470Asp)
c.848G>A (p.Gly283Asp)
c.956+5517G>A (n.956+5517G>A)
2g.48963182C>ACA346767203FSHRc.1639G>T (p.Gly547Cys)
c.1561G>T (p.Gly521Cys)
c.1741G>T (p.Gly581Cys)
c.1408G>T (p.Gly470Cys)
c.847G>T (p.Gly283Cys)
c.956+5516G>T (n.956+5516G>T)
 dbSNP COSMIC
2g.48963182C=CA1248751046FSHRc.1639G= (p.Gly547=)
c.1561G= (p.Gly521=)
c.1741G= (p.Gly581=)
c.1408G= (p.Gly470=)
c.847G= (p.Gly283=)
c.956+5516G= (n.956+5516G=)
2g.48963182C>GCA346767204FSHRc.1639G>C (p.Gly547Arg)
c.1561G>C (p.Gly521Arg)
c.1741G>C (p.Gly581Arg)
c.1408G>C (p.Gly470Arg)
c.847G>C (p.Gly283Arg)
c.956+5516G>C (n.956+5516G>C)
2g.48963182C>TCA1653623FSHRc.1639G>A (p.Gly547Ser)
c.1561G>A (p.Gly521Ser)
c.1741G>A (p.Gly581Ser)
c.1408G>A (p.Gly470Ser)
c.847G>A (p.Gly283Ser)
c.956+5516G>A (n.956+5516G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48963183A>CCA346767205FSHRc.1638T>G (p.Cys546Trp)
c.1560T>G (p.Cys520Trp)
c.1740T>G (p.Cys580Trp)
c.1407T>G (p.Cys469Trp)
c.846T>G (p.Cys282Trp)
c.956+5515T>G (n.956+5515T>G)
2g.48963183A>GCA426124823FSHRc.1638T>C (p.Cys546=)
c.1560T>C (p.Cys520=)
c.1740T>C (p.Cys580=)
c.1407T>C (p.Cys469=)
c.846T>C (p.Cys282=)
c.956+5515T>C (n.956+5515T>C)
2g.48963183A>TCA346767206FSHRc.1638T>A (p.Cys546Ter)
c.1560T>A (p.Cys520Ter)
c.1740T>A (p.Cys580Ter)
c.1407T>A (p.Cys469Ter)
c.846T>A (p.Cys282Ter)
c.956+5515T>A (n.956+5515T>A)
2g.48963184C>ACA346767207FSHRc.1637G>T (p.Cys546Phe)
c.1559G>T (p.Cys520Phe)
c.1739G>T (p.Cys580Phe)
c.1406G>T (p.Cys469Phe)
c.845G>T (p.Cys282Phe)
c.956+5514G>T (n.956+5514G>T)
2g.48963184C>GCA346767209FSHRc.1637G>C (p.Cys546Ser)
c.1559G>C (p.Cys520Ser)
c.1739G>C (p.Cys580Ser)
c.1406G>C (p.Cys469Ser)
c.845G>C (p.Cys282Ser)
c.956+5514G>C (n.956+5514G>C)
2g.48963184C>TCA346767208FSHRc.1637G>A (p.Cys546Tyr)
c.1559G>A (p.Cys520Tyr)
c.1739G>A (p.Cys580Tyr)
c.1406G>A (p.Cys469Tyr)
c.845G>A (p.Cys282Tyr)
c.956+5514G>A (n.956+5514G>A)
2g.48963185A>CCA346767210FSHRc.1636T>G (p.Cys546Gly)
c.1558T>G (p.Cys520Gly)
c.1738T>G (p.Cys580Gly)
c.1405T>G (p.Cys469Gly)
c.844T>G (p.Cys282Gly)
c.956+5513T>G (n.956+5513T>G)
2g.48963185A>GCA346767211FSHRc.1636T>C (p.Cys546Arg)
c.1558T>C (p.Cys520Arg)
c.1738T>C (p.Cys580Arg)
c.1405T>C (p.Cys469Arg)
c.844T>C (p.Cys282Arg)
c.956+5513T>C (n.956+5513T>C)
2g.48963185A>TCA346767212FSHRc.1636T>A (p.Cys546Ser)
c.1558T>A (p.Cys520Ser)
c.1738T>A (p.Cys580Ser)
c.1405T>A (p.Cys469Ser)
c.844T>A (p.Cys282Ser)
c.956+5513T>A (n.956+5513T>A)
2g.48963186G>ACA426124824FSHRc.1635C>T (p.Ile545=)
c.1557C>T (p.Ile519=)
c.1737C>T (p.Ile579=)
c.1404C>T (p.Ile468=)
c.843C>T (p.Ile281=)
c.956+5512C>T (n.956+5512C>T)
 gnomAD v4
2g.48963186G>CCA346767213FSHRc.1635C>G (p.Ile545Met)
c.1557C>G (p.Ile519Met)
c.1737C>G (p.Ile579Met)
c.1404C>G (p.Ile468Met)
c.843C>G (p.Ile281Met)
c.956+5512C>G (n.956+5512C>G)
 dbSNP
2g.48963186G=CA1248751047FSHRc.1635C= (p.Ile545=)
c.1557C= (p.Ile519=)
c.1737C= (p.Ile579=)
c.1404C= (p.Ile468=)
c.843C= (p.Ile281=)
c.956+5512C= (n.956+5512C=)
2g.48963186G>TCA426124825FSHRc.1635C>A (p.Ile545=)
c.1557C>A (p.Ile519=)
c.1737C>A (p.Ile579=)
c.1404C>A (p.Ile468=)
c.843C>A (p.Ile281=)
c.956+5512C>A (n.956+5512C>A)
2g.48963187A=CA1248751048FSHRc.1634T= (p.Ile545=)
c.1556T= (p.Ile519=)
c.1736T= (p.Ile579=)
c.1403T= (p.Ile468=)
c.842T= (p.Ile281=)
c.956+5511T= (n.956+5511T=)
2g.48963187A>CCA346767214FSHRc.1634T>G (p.Ile545Ser)
c.1556T>G (p.Ile519Ser)
c.1736T>G (p.Ile579Ser)
c.1403T>G (p.Ile468Ser)
c.842T>G (p.Ile281Ser)
c.956+5511T>G (n.956+5511T>G)
2g.48963187A>GCA126330FSHRc.1634T>C (p.Ile545Thr)
c.1556T>C (p.Ile519Thr)
c.1736T>C (p.Ile579Thr)
c.1403T>C (p.Ile468Thr)
c.842T>C (p.Ile281Thr)
c.956+5511T>C (n.956+5511T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.48963187A>TCA346767215FSHRc.1634T>A (p.Ile545Asn)
c.1556T>A (p.Ile519Asn)
c.1736T>A (p.Ile579Asn)
c.1403T>A (p.Ile468Asn)
c.842T>A (p.Ile281Asn)
c.956+5511T>A (n.956+5511T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.48963188T>ACA346767216FSHRc.1633A>T (p.Ile545Phe)
c.1555A>T (p.Ile519Phe)
c.1735A>T (p.Ile579Phe)
c.1402A>T (p.Ile468Phe)
c.841A>T (p.Ile281Phe)
c.956+5510A>T (n.956+5510A>T)
2g.48963188T>CCA346767217FSHRc.1633A>G (p.Ile545Val)
c.1555A>G (p.Ile519Val)
c.1735A>G (p.Ile579Val)
c.1402A>G (p.Ile468Val)
c.841A>G (p.Ile281Val)
c.956+5510A>G (n.956+5510A>G)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.48963188T>GCA346767218FSHRc.1633A>C (p.Ile545Leu)
c.1555A>C (p.Ile519Leu)
c.1735A>C (p.Ile579Leu)
c.1402A>C (p.Ile468Leu)
c.841A>C (p.Ile281Leu)
c.956+5510A>C (n.956+5510A>C)
2g.48963188T=CA1248751049FSHRc.1633A= (p.Ile545=)
c.1555A= (p.Ile519=)
c.1735A= (p.Ile579=)
c.1402A= (p.Ile468=)
c.841A= (p.Ile281=)
c.956+5510A= (n.956+5510A=)
2g.48963189G>ACA426124826FSHRc.1632C>T (p.Val544=)
c.1554C>T (p.Val518=)
c.1734C>T (p.Val578=)
c.1401C>T (p.Val467=)
c.840C>T (p.Val280=)
c.956+5509C>T (n.956+5509C>T)
 COSMIC
2g.48963189G>CCA426124827FSHRc.1632C>G (p.Val544=)
c.1554C>G (p.Val518=)
c.1734C>G (p.Val578=)
c.1401C>G (p.Val467=)
c.840C>G (p.Val280=)
c.956+5509C>G (n.956+5509C>G)
 gnomAD v4
2g.48963189G>TCA426124828FSHRc.1632C>A (p.Val544=)
c.1554C>A (p.Val518=)
c.1734C>A (p.Val578=)
c.1401C>A (p.Val467=)
c.840C>A (p.Val280=)
c.956+5509C>A (n.956+5509C>A)
2g.48963190A>CCA346767219FSHRc.1631T>G (p.Val544Gly)
c.1553T>G (p.Val518Gly)
c.1733T>G (p.Val578Gly)
c.1400T>G (p.Val467Gly)
c.839T>G (p.Val280Gly)
c.956+5508T>G (n.956+5508T>G)
2g.48963190A>GCA346767220FSHRc.1631T>C (p.Val544Ala)
c.1553T>C (p.Val518Ala)
c.1733T>C (p.Val578Ala)
c.1400T>C (p.Val467Ala)
c.839T>C (p.Val280Ala)
c.956+5508T>C (n.956+5508T>C)
2g.48963190A>TCA346767221FSHRc.1631T>A (p.Val544Asp)
c.1553T>A (p.Val518Asp)
c.1733T>A (p.Val578Asp)
c.1400T>A (p.Val467Asp)
c.839T>A (p.Val280Asp)
c.956+5508T>A (n.956+5508T>A)
2g.48963191C>ACA346767224FSHRc.1630G>T (p.Val544Phe)
c.1552G>T (p.Val518Phe)
c.1732G>T (p.Val578Phe)
c.1399G>T (p.Val467Phe)
c.838G>T (p.Val280Phe)
c.956+5507G>T (n.956+5507G>T)
2g.48963191C>GCA346767222FSHRc.1630G>C (p.Val544Leu)
c.1552G>C (p.Val518Leu)
c.1732G>C (p.Val578Leu)
c.1399G>C (p.Val467Leu)
c.838G>C (p.Val280Leu)
c.956+5507G>C (n.956+5507G>C)
2g.48963191C>TCA346767223FSHRc.1630G>A (p.Val544Ile)
c.1552G>A (p.Val518Ile)
c.1732G>A (p.Val578Ile)
c.1399G>A (p.Val467Ile)
c.838G>A (p.Val280Ile)
c.956+5507G>A (n.956+5507G>A)
2g.48963192C>ACA426124829FSHRc.1629G>T (p.Val543=)
c.1551G>T (p.Val517=)
c.1731G>T (p.Val577=)
c.1398G>T (p.Val466=)
c.837G>T (p.Val279=)
c.956+5506G>T (n.956+5506G>T)
 gnomAD v4
2g.48963192C>GCA426124830FSHRc.1629G>C (p.Val543=)
c.1551G>C (p.Val517=)
c.1731G>C (p.Val577=)
c.1398G>C (p.Val466=)
c.837G>C (p.Val279=)
c.956+5506G>C (n.956+5506G>C)
2g.48963192C>TCA426124831FSHRc.1629G>A (p.Val543=)
c.1551G>A (p.Val517=)
c.1731G>A (p.Val577=)
c.1398G>A (p.Val466=)
c.837G>A (p.Val279=)
c.956+5506G>A (n.956+5506G>A)
 gnomAD v4
2g.48963193A>CCA346767225FSHRc.1628T>G (p.Val543Gly)
c.1550T>G (p.Val517Gly)
c.1730T>G (p.Val577Gly)
c.1397T>G (p.Val466Gly)
c.836T>G (p.Val279Gly)
c.956+5505T>G (n.956+5505T>G)
2g.48963193A>GCA346767226FSHRc.1628T>C (p.Val543Ala)
c.1550T>C (p.Val517Ala)
c.1730T>C (p.Val577Ala)
c.1397T>C (p.Val466Ala)
c.836T>C (p.Val279Ala)
c.956+5505T>C (n.956+5505T>C)
2g.48963193A>TCA346767227FSHRc.1628T>A (p.Val543Glu)
c.1550T>A (p.Val517Glu)
c.1730T>A (p.Val577Glu)
c.1397T>A (p.Val466Glu)
c.836T>A (p.Val279Glu)
c.956+5505T>A (n.956+5505T>A)
2g.48963194C>ACA346767228FSHRc.1627G>T (p.Val543Leu)
c.1549G>T (p.Val517Leu)
c.1729G>T (p.Val577Leu)
c.1396G>T (p.Val466Leu)
c.835G>T (p.Val279Leu)
c.956+5504G>T (n.956+5504G>T)
2g.48963194C=CA1248751050FSHRc.1627G= (p.Val543=)
c.1549G= (p.Val517=)
c.1729G= (p.Val577=)
c.1396G= (p.Val466=)
c.835G= (p.Val279=)
c.956+5504G= (n.956+5504G=)
2g.48963194C>GCA346767229FSHRc.1627G>C (p.Val543Leu)
c.1549G>C (p.Val517Leu)
c.1729G>C (p.Val577Leu)
c.1396G>C (p.Val466Leu)
c.835G>C (p.Val279Leu)
c.956+5504G>C (n.956+5504G>C)
 dbSNP gnomAD v3 gnomAD v4
2g.48963194C>TCA346767230FSHRc.1627G>A (p.Val543Met)
c.1549G>A (p.Val517Met)
c.1729G>A (p.Val577Met)
c.1396G>A (p.Val466Met)
c.835G>A (p.Val279Met)
c.956+5504G>A (n.956+5504G>A)
2g.48963194_48963195delinsCACA1248751051FSHRc.1626_1627delinsTG (p.Phe542=)
c.1548_1549delinsTG (p.Phe516=)
c.1728_1729delinsTG (p.Phe576=)
c.1395_1396delinsTG (p.Phe465=)
c.834_835delinsTG (p.Phe278=)
c.956+5503_956+5504delinsTG (n.956+5503_956+5504delinsTG)
2g.48963195A>CCA346767231FSHRc.1626T>G (p.Phe542Leu)
c.1548T>G (p.Phe516Leu)
c.1728T>G (p.Phe576Leu)
c.1395T>G (p.Phe465Leu)
c.834T>G (p.Phe278Leu)
c.956+5503T>G (n.956+5503T>G)
 dbSNP
2g.48963195A>GCA426124832FSHRc.1626T>C (p.Phe542=)
c.1548T>C (p.Phe516=)
c.1728T>C (p.Phe576=)
c.1395T>C (p.Phe465=)
c.834T>C (p.Phe278=)
c.956+5503T>C (n.956+5503T>C)
2g.48963195A>TCA346767232FSHRc.1626T>A (p.Phe542Leu)
c.1548T>A (p.Phe516Leu)
c.1728T>A (p.Phe576Leu)
c.1395T>A (p.Phe465Leu)
c.834T>A (p.Phe278Leu)
c.956+5503T>A (n.956+5503T>A)
2g.48963197delCA1248751052FSHRc.1626del (p.Phe542LeufsTer?)
c.1548del (p.Phe516LeufsTer?)
c.1728del (p.Phe576LeufsTer?)
c.1395del (p.Phe465LeufsTer?)
c.834del (p.Phe278LeufsTer?)
c.956+5503del (n.956+5503del)
 dbSNP
2g.48963196A>CCA346767233FSHRc.1625T>G (p.Phe542Cys)
c.1547T>G (p.Phe516Cys)
c.1727T>G (p.Phe576Cys)
c.1394T>G (p.Phe465Cys)
c.833T>G (p.Phe278Cys)
c.956+5502T>G (n.956+5502T>G)
2g.48963196A>GCA346767234FSHRc.1625T>C (p.Phe542Ser)
c.1547T>C (p.Phe516Ser)
c.1727T>C (p.Phe576Ser)
c.1394T>C (p.Phe465Ser)
c.833T>C (p.Phe278Ser)
c.956+5502T>C (n.956+5502T>C)
2g.48963196A>TCA346767235FSHRc.1625T>A (p.Phe542Tyr)
c.1547T>A (p.Phe516Tyr)
c.1727T>A (p.Phe576Tyr)
c.1394T>A (p.Phe465Tyr)
c.833T>A (p.Phe278Tyr)
c.956+5502T>A (n.956+5502T>A)
2g.48963197A=CA1248751053FSHRc.1624T= (p.Phe542=)
c.1546T= (p.Phe516=)
c.1726T= (p.Phe576=)
c.1393T= (p.Phe465=)
c.832T= (p.Phe278=)
c.956+5501T= (n.956+5501T=)
2g.48963197A>CCA346767238FSHRc.1624T>G (p.Phe542Val)
c.1546T>G (p.Phe516Val)
c.1726T>G (p.Phe576Val)
c.1393T>G (p.Phe465Val)
c.832T>G (p.Phe278Val)
c.956+5501T>G (n.956+5501T>G)
 dbSNP
2g.48963197A>GCA346767237FSHRc.1624T>C (p.Phe542Leu)
c.1546T>C (p.Phe516Leu)
c.1726T>C (p.Phe576Leu)
c.1393T>C (p.Phe465Leu)
c.832T>C (p.Phe278Leu)
c.956+5501T>C (n.956+5501T>C)
2g.48963197A>TCA346767236FSHRc.1624T>A (p.Phe542Ile)
c.1546T>A (p.Phe516Ile)
c.1726T>A (p.Phe576Ile)
c.1393T>A (p.Phe465Ile)
c.832T>A (p.Phe278Ile)
c.956+5501T>A (n.956+5501T>A)
2g.48963198G>ACA426124833FSHRc.1623C>T (p.Ala541=)
c.1545C>T (p.Ala515=)
c.1725C>T (p.Ala575=)
c.1392C>T (p.Ala464=)
c.831C>T (p.Ala277=)
c.956+5500C>T (n.956+5500C>T)
 COSMIC
2g.48963198G>CCA426124834FSHRc.1623C>G (p.Ala541=)
c.1545C>G (p.Ala515=)
c.1725C>G (p.Ala575=)
c.1392C>G (p.Ala464=)
c.831C>G (p.Ala277=)
c.956+5500C>G (n.956+5500C>G)
2g.48963198G=CA1248751054FSHRc.1623C= (p.Ala541=)
c.1545C= (p.Ala515=)
c.1725C= (p.Ala575=)
c.1392C= (p.Ala464=)
c.831C= (p.Ala277=)
c.956+5500C= (n.956+5500C=)
2g.48963198G>TCA426124835FSHRc.1623C>A (p.Ala541=)
c.1545C>A (p.Ala515=)
c.1725C>A (p.Ala575=)
c.1392C>A (p.Ala464=)
c.831C>A (p.Ala277=)
c.956+5500C>A (n.956+5500C>A)
 dbSNP gnomAD v4
2g.48963199G>ACA346767239FSHRc.1622C>T (p.Ala541Val)
c.1544C>T (p.Ala515Val)
c.1724C>T (p.Ala575Val)
c.1391C>T (p.Ala464Val)
c.830C>T (p.Ala277Val)
c.956+5499C>T (n.956+5499C>T)
 COSMIC
2g.48963199G>CCA346767241FSHRc.1622C>G (p.Ala541Gly)
c.1544C>G (p.Ala515Gly)
c.1724C>G (p.Ala575Gly)
c.1391C>G (p.Ala464Gly)
c.830C>G (p.Ala277Gly)
c.956+5499C>G (n.956+5499C>G)
2g.48963199G>TCA346767240FSHRc.1622C>A (p.Ala541Asp)
c.1544C>A (p.Ala515Asp)
c.1724C>A (p.Ala575Asp)
c.1391C>A (p.Ala464Asp)
c.830C>A (p.Ala277Asp)
c.956+5499C>A (n.956+5499C>A)
 gnomAD v4 COSMIC
2g.48963200C>ACA346767242FSHRc.1621G>T (p.Ala541Ser)
c.1543G>T (p.Ala515Ser)
c.1723G>T (p.Ala575Ser)
c.1390G>T (p.Ala464Ser)
c.829G>T (p.Ala277Ser)
c.956+5498G>T (n.956+5498G>T)
 gnomAD v4
2g.48963200C>GCA346767244FSHRc.1621G>C (p.Ala541Pro)
c.1543G>C (p.Ala515Pro)
c.1723G>C (p.Ala575Pro)
c.1390G>C (p.Ala464Pro)
c.829G>C (p.Ala277Pro)
c.956+5498G>C (n.956+5498G>C)
2g.48963200C>TCA346767243FSHRc.1621G>A (p.Ala541Thr)
c.1543G>A (p.Ala515Thr)
c.1723G>A (p.Ala575Thr)
c.1390G>A (p.Ala464Thr)
c.829G>A (p.Ala277Thr)
c.956+5498G>A (n.956+5498G>A)
2g.48963201C>ACA426124837FSHRc.1620G>T (p.Leu540=)
c.1542G>T (p.Leu514=)
c.1722G>T (p.Leu574=)
c.1389G>T (p.Leu463=)
c.828G>T (p.Leu276=)
c.956+5497G>T (n.956+5497G>T)
2g.48963201C>GCA426124838FSHRc.1620G>C (p.Leu540=)
c.1542G>C (p.Leu514=)
c.1722G>C (p.Leu574=)
c.1389G>C (p.Leu463=)
c.828G>C (p.Leu276=)
c.956+5497G>C (n.956+5497G>C)
2g.48963201C>TCA426124836FSHRc.1620G>A (p.Leu540=)
c.1542G>A (p.Leu514=)
c.1722G>A (p.Leu574=)
c.1389G>A (p.Leu463=)
c.828G>A (p.Leu276=)
c.956+5497G>A (n.956+5497G>A)
2g.48963202A>CCA346767245FSHRc.1619T>G (p.Leu540Arg)
c.1541T>G (p.Leu514Arg)
c.1721T>G (p.Leu574Arg)
c.1388T>G (p.Leu463Arg)
c.827T>G (p.Leu276Arg)
c.956+5496T>G (n.956+5496T>G)
2g.48963202A>GCA346767247FSHRc.1619T>C (p.Leu540Pro)
c.1541T>C (p.Leu514Pro)
c.1721T>C (p.Leu574Pro)
c.1388T>C (p.Leu463Pro)
c.827T>C (p.Leu276Pro)
c.956+5496T>C (n.956+5496T>C)
2g.48963202A>TCA346767246FSHRc.1619T>A (p.Leu540Gln)
c.1541T>A (p.Leu514Gln)
c.1721T>A (p.Leu574Gln)
c.1388T>A (p.Leu463Gln)
c.827T>A (p.Leu276Gln)
c.956+5496T>A (n.956+5496T>A)
2g.48963203G>ACA426125006FSHRc.1618C>T (p.Leu540=)
c.1540C>T (p.Leu514=)
c.1720C>T (p.Leu574=)
c.1387C>T (p.Leu463=)
c.826C>T (p.Leu276=)
c.956+5495C>T (n.956+5495C>T)
2g.48963203G>CCA346767248FSHRc.1618C>G (p.Leu540Val)
c.1540C>G (p.Leu514Val)
c.1720C>G (p.Leu574Val)
c.1387C>G (p.Leu463Val)
c.826C>G (p.Leu276Val)
c.956+5495C>G (n.956+5495C>G)
2g.48963203G>TCA346767249FSHRc.1618C>A (p.Leu540Met)
c.1540C>A (p.Leu514Met)
c.1720C>A (p.Leu574Met)
c.1387C>A (p.Leu463Met)
c.826C>A (p.Leu276Met)
c.956+5495C>A (n.956+5495C>A)
 COSMIC
2g.48963204G>ACA426125009FSHRc.1617C>T (p.Val539=)
c.1539C>T (p.Val513=)
c.1719C>T (p.Val573=)
c.1386C>T (p.Val462=)
c.825C>T (p.Val275=)
c.956+5494C>T (n.956+5494C>T)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.48963204G>CCA426125008FSHRc.1617C>G (p.Val539=)
c.1539C>G (p.Val513=)
c.1719C>G (p.Val573=)
c.1386C>G (p.Val462=)
c.825C>G (p.Val275=)
c.956+5494C>G (n.956+5494C>G)
2g.48963204G=CA1248751055FSHRc.1617C= (p.Val539=)
c.1539C= (p.Val513=)
c.1719C= (p.Val573=)
c.1386C= (p.Val462=)
c.825C= (p.Val275=)
c.956+5494C= (n.956+5494C=)
2g.48963204G>TCA426125007FSHRc.1617C>A (p.Val539=)
c.1539C>A (p.Val513=)
c.1719C>A (p.Val573=)
c.1386C>A (p.Val462=)
c.825C>A (p.Val275=)
c.956+5494C>A (n.956+5494C>A)
2g.48963205A>CCA346767250FSHRc.1616T>G (p.Val539Gly)
c.1538T>G (p.Val513Gly)
c.1718T>G (p.Val573Gly)
c.1385T>G (p.Val462Gly)
c.824T>G (p.Val275Gly)
c.956+5493T>G (n.956+5493T>G)
2g.48963205A>GCA346767251FSHRc.1616T>C (p.Val539Ala)
c.1538T>C (p.Val513Ala)
c.1718T>C (p.Val573Ala)
c.1385T>C (p.Val462Ala)
c.824T>C (p.Val275Ala)
c.956+5493T>C (n.956+5493T>C)
2g.48963205A>TCA346767252FSHRc.1616T>A (p.Val539Asp)
c.1538T>A (p.Val513Asp)
c.1718T>A (p.Val573Asp)
c.1385T>A (p.Val462Asp)
c.824T>A (p.Val275Asp)
c.956+5493T>A (n.956+5493T>A)
 gnomAD v4
2g.48963206C>ACA346767253FSHRc.1615G>T (p.Val539Phe)
c.1537G>T (p.Val513Phe)
c.1717G>T (p.Val573Phe)
c.1384G>T (p.Val462Phe)
c.823G>T (p.Val275Phe)
c.956+5492G>T (n.956+5492G>T)
2g.48963206C>GCA346767254FSHRc.1615G>C (p.Val539Leu)
c.1537G>C (p.Val513Leu)
c.1717G>C (p.Val573Leu)
c.1384G>C (p.Val462Leu)
c.823G>C (p.Val275Leu)
c.956+5492G>C (n.956+5492G>C)
2g.48963206C>TCA346767255FSHRc.1615G>A (p.Val539Ile)
c.1537G>A (p.Val513Ile)
c.1717G>A (p.Val573Ile)
c.1384G>A (p.Val462Ile)
c.823G>A (p.Val275Ile)
c.956+5492G>A (n.956+5492G>A)
 COSMIC
2g.48963207A=CA1248751056FSHRc.1614T= (p.Asn538=)
c.1536T= (p.Asn512=)
c.1716T= (p.Asn572=)
c.1383T= (p.Asn461=)
c.822T= (p.Asn274=)
c.956+5491T= (n.956+5491T=)
2g.48963207A>CCA346767256FSHRc.1614T>G (p.Asn538Lys)
c.1536T>G (p.Asn512Lys)
c.1716T>G (p.Asn572Lys)
c.1383T>G (p.Asn461Lys)
c.822T>G (p.Asn274Lys)
c.956+5491T>G (n.956+5491T>G)
2g.48963207A>GCA47326924FSHRc.1614T>C (p.Asn538=)
c.1536T>C (p.Asn512=)
c.1716T>C (p.Asn572=)
c.1383T>C (p.Asn461=)
c.822T>C (p.Asn274=)
c.956+5491T>C (n.956+5491T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48963207A>TCA346767257FSHRc.1614T>A (p.Asn538Lys)
c.1536T>A (p.Asn512Lys)
c.1716T>A (p.Asn572Lys)
c.1383T>A (p.Asn461Lys)
c.822T>A (p.Asn274Lys)
c.956+5491T>A (n.956+5491T>A)
2g.48963208T>ACA346767260FSHRc.1613A>T (p.Asn538Ile)
c.1535A>T (p.Asn512Ile)
c.1715A>T (p.Asn572Ile)
c.1382A>T (p.Asn461Ile)
c.821A>T (p.Asn274Ile)
c.956+5490A>T (n.956+5490A>T)
2g.48963208T>CCA346767258FSHRc.1613A>G (p.Asn538Ser)
c.1535A>G (p.Asn512Ser)
c.1715A>G (p.Asn572Ser)
c.1382A>G (p.Asn461Ser)
c.821A>G (p.Asn274Ser)
c.956+5490A>G (n.956+5490A>G)
 dbSNP
2g.48963208T>GCA346767259FSHRc.1613A>C (p.Asn538Thr)
c.1535A>C (p.Asn512Thr)
c.1715A>C (p.Asn572Thr)
c.1382A>C (p.Asn461Thr)
c.821A>C (p.Asn274Thr)
c.956+5490A>C (n.956+5490A>C)
2g.48963208T=CA1248751057FSHRc.1613A= (p.Asn538=)
c.1535A= (p.Asn512=)
c.1715A= (p.Asn572=)
c.1382A= (p.Asn461=)
c.821A= (p.Asn274=)
c.956+5490A= (n.956+5490A=)
2g.48963209T>ACA346767261FSHRc.1612A>T (p.Asn538Tyr)
c.1534A>T (p.Asn512Tyr)
c.1714A>T (p.Asn572Tyr)
c.1381A>T (p.Asn461Tyr)
c.820A>T (p.Asn274Tyr)
c.956+5489A>T (n.956+5489A>T)
2g.48963209T>CCA346767262FSHRc.1612A>G (p.Asn538Asp)
c.1534A>G (p.Asn512Asp)
c.1714A>G (p.Asn572Asp)
c.1381A>G (p.Asn461Asp)
c.820A>G (p.Asn274Asp)
c.956+5489A>G (n.956+5489A>G)
2g.48963209T>GCA346767263FSHRc.1612A>C (p.Asn538His)
c.1534A>C (p.Asn512His)
c.1714A>C (p.Asn572His)
c.1381A>C (p.Asn461His)
c.820A>C (p.Asn274His)
c.956+5489A>C (n.956+5489A>C)
2g.48963210G>ACA426125012FSHRc.1611C>T (p.Leu537=)
c.1533C>T (p.Leu511=)
c.1713C>T (p.Leu571=)
c.1380C>T (p.Leu460=)
c.819C>T (p.Leu273=)
c.956+5488C>T (n.956+5488C>T)
2g.48963210G>CCA426125013FSHRc.1611C>G (p.Leu537=)
c.1533C>G (p.Leu511=)
c.1713C>G (p.Leu571=)
c.1380C>G (p.Leu460=)
c.819C>G (p.Leu273=)
c.956+5488C>G (n.956+5488C>G)
2g.48963210G>TCA426125014FSHRc.1611C>A (p.Leu537=)
c.1533C>A (p.Leu511=)
c.1713C>A (p.Leu571=)
c.1380C>A (p.Leu460=)
c.819C>A (p.Leu273=)
c.956+5488C>A (n.956+5488C>A)
2g.48963211A>CCA346767264FSHRc.1610T>G (p.Leu537Arg)
c.1532T>G (p.Leu511Arg)
c.1712T>G (p.Leu571Arg)
c.1379T>G (p.Leu460Arg)
c.818T>G (p.Leu273Arg)
c.956+5487T>G (n.956+5487T>G)
2g.48963211A>GCA346767265FSHRc.1610T>C (p.Leu537Pro)
c.1532T>C (p.Leu511Pro)
c.1712T>C (p.Leu571Pro)
c.1379T>C (p.Leu460Pro)
c.818T>C (p.Leu273Pro)
c.956+5487T>C (n.956+5487T>C)
 COSMIC
2g.48963211A>TCA346767266FSHRc.1610T>A (p.Leu537His)
c.1532T>A (p.Leu511His)
c.1712T>A (p.Leu571His)
c.1379T>A (p.Leu460His)
c.818T>A (p.Leu273His)
c.956+5487T>A (n.956+5487T>A)
2g.48963212G>ACA346767267FSHRc.1609C>T (p.Leu537Phe)
c.1531C>T (p.Leu511Phe)
c.1711C>T (p.Leu571Phe)
c.1378C>T (p.Leu460Phe)
c.817C>T (p.Leu273Phe)
c.956+5486C>T (n.956+5486C>T)
2g.48963212G>CCA346767268FSHRc.1609C>G (p.Leu537Val)
c.1531C>G (p.Leu511Val)
c.1711C>G (p.Leu571Val)
c.1378C>G (p.Leu460Val)
c.817C>G (p.Leu273Val)
c.956+5486C>G (n.956+5486C>G)
2g.48963212G>TCA346767269FSHRc.1609C>A (p.Leu537Ile)
c.1531C>A (p.Leu511Ile)
c.1711C>A (p.Leu571Ile)
c.1378C>A (p.Leu460Ile)
c.817C>A (p.Leu273Ile)
c.956+5486C>A (n.956+5486C>A)
2g.48963213C>ACA426125019FSHRc.1608G>T (p.Val536=)
c.1530G>T (p.Val510=)
c.1710G>T (p.Val570=)
c.1377G>T (p.Val459=)
c.816G>T (p.Val272=)
c.956+5485G>T (n.956+5485G>T)
2g.48963213C>GCA426125020FSHRc.1608G>C (p.Val536=)
c.1530G>C (p.Val510=)
c.1710G>C (p.Val570=)
c.1377G>C (p.Val459=)
c.816G>C (p.Val272=)
c.956+5485G>C (n.956+5485G>C)
 gnomAD v4
2g.48963213C>TCA426125021FSHRc.1608G>A (p.Val536=)
c.1530G>A (p.Val510=)
c.1710G>A (p.Val570=)
c.1377G>A (p.Val459=)
c.816G>A (p.Val272=)
c.956+5485G>A (n.956+5485G>A)
2g.48963214A=CA1248751058FSHRc.1607T= (p.Val536=)
c.1529T= (p.Val510=)
c.1709T= (p.Val570=)
c.1376T= (p.Val459=)
c.815T= (p.Val272=)
c.956+5484T= (n.956+5484T=)
2g.48963214A>CCA346767271FSHRc.1607T>G (p.Val536Gly)
c.1529T>G (p.Val510Gly)
c.1709T>G (p.Val570Gly)
c.1376T>G (p.Val459Gly)
c.815T>G (p.Val272Gly)
c.956+5484T>G (n.956+5484T>G)
2g.48963214A>GCA346767272FSHRc.1607T>C (p.Val536Ala)
c.1529T>C (p.Val510Ala)
c.1709T>C (p.Val570Ala)
c.1376T>C (p.Val459Ala)
c.815T>C (p.Val272Ala)
c.956+5484T>C (n.956+5484T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.48963214A>TCA346767270FSHRc.1607T>A (p.Val536Glu)
c.1529T>A (p.Val510Glu)
c.1709T>A (p.Val570Glu)
c.1376T>A (p.Val459Glu)
c.815T>A (p.Val272Glu)
c.956+5484T>A (n.956+5484T>A)
2g.48963215C>ACA1653624FSHRc.1606G>T (p.Val536Leu)
c.1528G>T (p.Val510Leu)
c.1708G>T (p.Val570Leu)
c.1375G>T (p.Val459Leu)
c.814G>T (p.Val272Leu)
c.956+5483G>T (n.956+5483G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48963215C=CA1248751059FSHRc.1606G= (p.Val536=)
c.1528G= (p.Val510=)
c.1708G= (p.Val570=)
c.1375G= (p.Val459=)
c.814G= (p.Val272=)
c.956+5483G= (n.956+5483G=)
2g.48963215C>GCA346767273FSHRc.1606G>C (p.Val536Leu)
c.1528G>C (p.Val510Leu)
c.1708G>C (p.Val570Leu)
c.1375G>C (p.Val459Leu)
c.814G>C (p.Val272Leu)
c.956+5483G>C (n.956+5483G>C)
2g.48963215C>TCA346767274FSHRc.1606G>A (p.Val536Met)
c.1528G>A (p.Val510Met)
c.1708G>A (p.Val570Met)
c.1375G>A (p.Val459Met)
c.814G>A (p.Val272Met)
c.956+5483G>A (n.956+5483G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.48963215_48963216insTAACA2567803311FSHRc.1605_1606insTTA (p.Leu535_Val536insLeu)
c.1527_1528insTTA (p.Leu509_Val510insLeu)
c.1707_1708insTTA (p.Leu569_Val570insLeu)
c.1374_1375insTTA (p.Leu458_Val459insLeu)
c.813_814insTTA (p.Leu271_Val272insLeu)
c.956+5482_956+5483insTTA (n.956+5482_956+5483insTTA)
2g.48963216A>CCA426125025FSHRc.1605T>G (p.Leu535=)
c.1527T>G (p.Leu509=)
c.1707T>G (p.Leu569=)
c.1374T>G (p.Leu458=)
c.813T>G (p.Leu271=)
c.956+5482T>G (n.956+5482T>G)
2g.48963216A>GCA426125026FSHRc.1605T>C (p.Leu535=)
c.1527T>C (p.Leu509=)
c.1707T>C (p.Leu569=)
c.1374T>C (p.Leu458=)
c.813T>C (p.Leu271=)
c.956+5482T>C (n.956+5482T>C)
2g.48963216A>TCA426125027FSHRc.1605T>A (p.Leu535=)
c.1527T>A (p.Leu509=)
c.1707T>A (p.Leu569=)
c.1374T>A (p.Leu458=)
c.813T>A (p.Leu271=)
c.956+5482T>A (n.956+5482T>A)
2g.48963217A=CA1248751060FSHRc.1604T= (p.Leu535=)
c.1526T= (p.Leu509=)
c.1706T= (p.Leu569=)
c.1373T= (p.Leu458=)
c.812T= (p.Leu271=)
c.956+5481T= (n.956+5481T=)
2g.48963217A>CCA346767275FSHRc.1604T>G (p.Leu535Arg)
c.1526T>G (p.Leu509Arg)
c.1706T>G (p.Leu569Arg)
c.1373T>G (p.Leu458Arg)
c.812T>G (p.Leu271Arg)
c.956+5481T>G (n.956+5481T>G)
2g.48963217A>GCA346767276FSHRc.1604T>C (p.Leu535Pro)
c.1526T>C (p.Leu509Pro)
c.1706T>C (p.Leu569Pro)
c.1373T>C (p.Leu458Pro)
c.812T>C (p.Leu271Pro)
c.956+5481T>C (n.956+5481T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.48963217A>TCA1653625FSHRc.1604T>A (p.Leu535His)
c.1526T>A (p.Leu509His)
c.1706T>A (p.Leu569His)
c.1373T>A (p.Leu458His)
c.812T>A (p.Leu271His)
c.956+5481T>A (n.956+5481T>A)
 dbSNP ExAC
2g.48963218G>ACA346767277FSHRc.1603C>T (p.Leu535Phe)
c.1525C>T (p.Leu509Phe)
c.1705C>T (p.Leu569Phe)
c.1372C>T (p.Leu458Phe)
c.811C>T (p.Leu271Phe)
c.956+5480C>T (n.956+5480C>T)
2g.48963218G>CCA346767278FSHRc.1603C>G (p.Leu535Val)
c.1525C>G (p.Leu509Val)
c.1705C>G (p.Leu569Val)
c.1372C>G (p.Leu458Val)
c.811C>G (p.Leu271Val)
c.956+5480C>G (n.956+5480C>G)
2g.48963218G=CA1248751061FSHRc.1603C= (p.Leu535=)
c.1525C= (p.Leu509=)
c.1705C= (p.Leu569=)
c.1372C= (p.Leu458=)
c.811C= (p.Leu271=)
c.956+5480C= (n.956+5480C=)
2g.48963218G>TCA346767279FSHRc.1603C>A (p.Leu535Ile)
c.1525C>A (p.Leu509Ile)
c.1705C>A (p.Leu569Ile)
c.1372C>A (p.Leu458Ile)
c.811C>A (p.Leu271Ile)
c.956+5480C>A (n.956+5480C>A)
 dbSNP
2g.48963219G>ACA426125034FSHRc.1602C>T (p.Leu534=)
c.1524C>T (p.Leu508=)
c.1704C>T (p.Leu568=)
c.1371C>T (p.Leu457=)
c.810C>T (p.Leu270=)
c.956+5479C>T (n.956+5479C>T)
 dbSNP
2g.48963219G>CCA426125035FSHRc.1602C>G (p.Leu534=)
c.1524C>G (p.Leu508=)
c.1704C>G (p.Leu568=)
c.1371C>G (p.Leu457=)
c.810C>G (p.Leu270=)
c.956+5479C>G (n.956+5479C>G)
2g.48963219G=CA1248751062FSHRc.1602C= (p.Leu534=)
c.1524C= (p.Leu508=)
c.1704C= (p.Leu568=)
c.1371C= (p.Leu457=)
c.810C= (p.Leu270=)
c.956+5479C= (n.956+5479C=)
2g.48963219G>TCA426125036FSHRc.1602C>A (p.Leu534=)
c.1524C>A (p.Leu508=)
c.1704C>A (p.Leu568=)
c.1371C>A (p.Leu457=)
c.810C>A (p.Leu270=)
c.956+5479C>A (n.956+5479C>A)
 COSMIC
2g.48963220A>CCA346767280FSHRc.1601T>G (p.Leu534Arg)
c.1523T>G (p.Leu508Arg)
c.1703T>G (p.Leu568Arg)
c.1370T>G (p.Leu457Arg)
c.809T>G (p.Leu270Arg)
c.956+5478T>G (n.956+5478T>G)
2g.48963220A>GCA346767281FSHRc.1601T>C (p.Leu534Pro)
c.1523T>C (p.Leu508Pro)
c.1703T>C (p.Leu568Pro)
c.1370T>C (p.Leu457Pro)
c.809T>C (p.Leu270Pro)
c.956+5478T>C (n.956+5478T>C)
2g.48963220A>TCA346767282FSHRc.1601T>A (p.Leu534His)
c.1523T>A (p.Leu508His)
c.1703T>A (p.Leu568His)
c.1370T>A (p.Leu457His)
c.809T>A (p.Leu270His)
c.956+5478T>A (n.956+5478T>A)
2g.48963221G>ACA346767285FSHRc.1600C>T (p.Leu534Phe)
c.1522C>T (p.Leu508Phe)
c.1702C>T (p.Leu568Phe)
c.1369C>T (p.Leu457Phe)
c.808C>T (p.Leu270Phe)
c.956+5477C>T (n.956+5477C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.48963221G>CCA346767283FSHRc.1600C>G (p.Leu534Val)
c.1522C>G (p.Leu508Val)
c.1702C>G (p.Leu568Val)
c.1369C>G (p.Leu457Val)
c.808C>G (p.Leu270Val)
c.956+5477C>G (n.956+5477C>G)
2g.48963221G=CA1248751063FSHRc.1600C= (p.Leu534=)
c.1522C= (p.Leu508=)
c.1702C= (p.Leu568=)
c.1369C= (p.Leu457=)
c.808C= (p.Leu270=)
c.956+5477C= (n.956+5477C=)
2g.48963221G>TCA346767284FSHRc.1600C>A (p.Leu534Ile)
c.1522C>A (p.Leu508Ile)
c.1702C>A (p.Leu568Ile)
c.1369C>A (p.Leu457Ile)
c.808C>A (p.Leu270Ile)
c.956+5477C>A (n.956+5477C>A)
2g.48963223delCA2658997012FSHRc.1600del (p.Leu534SerfsTer?)
c.1522del (p.Leu508SerfsTer?)
c.1702del (p.Leu568SerfsTer?)
c.1369del (p.Leu457SerfsTer?)
c.808del (p.Leu270SerfsTer?)
c.956+5477del (n.956+5477del)
 gnomAD v4
2g.48963222G>ACA426125040FSHRc.1599C>T (p.Ser533=)
c.1521C>T (p.Ser507=)
c.1701C>T (p.Ser567=)
c.1368C>T (p.Ser456=)
c.807C>T (p.Ser269=)
c.956+5476C>T (n.956+5476C>T)
 gnomAD v4
2g.48963222G>CCA426125044FSHRc.1599C>G (p.Ser533=)
c.1521C>G (p.Ser507=)
c.1701C>G (p.Ser567=)
c.1368C>G (p.Ser456=)
c.807C>G (p.Ser269=)
c.956+5476C>G (n.956+5476C>G)
 gnomAD v4
2g.48963222G>TCA426125041FSHRc.1599C>A (p.Ser533=)
c.1521C>A (p.Ser507=)
c.1701C>A (p.Ser567=)
c.1368C>A (p.Ser456=)
c.807C>A (p.Ser269=)
c.956+5476C>A (n.956+5476C>A)
 gnomAD v4
2g.48963223G>ACA346767286FSHRc.1598C>T (p.Ser533Phe)
c.1520C>T (p.Ser507Phe)
c.1700C>T (p.Ser567Phe)
c.1367C>T (p.Ser456Phe)
c.806C>T (p.Ser269Phe)
c.956+5475C>T (n.956+5475C>T)
2g.48963223G>CCA346767287FSHRc.1598C>G (p.Ser533Cys)
c.1520C>G (p.Ser507Cys)
c.1700C>G (p.Ser567Cys)
c.1367C>G (p.Ser456Cys)
c.806C>G (p.Ser269Cys)
c.956+5475C>G (n.956+5475C>G)
2g.48963223G>TCA346767288FSHRc.1598C>A (p.Ser533Tyr)
c.1520C>A (p.Ser507Tyr)
c.1700C>A (p.Ser567Tyr)
c.1367C>A (p.Ser456Tyr)
c.806C>A (p.Ser269Tyr)
c.956+5475C>A (n.956+5475C>A)
2g.48963224A=CA1248751064FSHRc.1597T= (p.Ser533=)
c.1519T= (p.Ser507=)
c.1699T= (p.Ser567=)
c.1366T= (p.Ser456=)
c.805T= (p.Ser269=)
c.956+5474T= (n.956+5474T=)
2g.48963224A>CCA346767289FSHRc.1597T>G (p.Ser533Ala)
c.1519T>G (p.Ser507Ala)
c.1699T>G (p.Ser567Ala)
c.1366T>G (p.Ser456Ala)
c.805T>G (p.Ser269Ala)
c.956+5474T>G (n.956+5474T>G)
2g.48963224A>GCA346767290FSHRc.1597T>C (p.Ser533Pro)
c.1519T>C (p.Ser507Pro)
c.1699T>C (p.Ser567Pro)
c.1366T>C (p.Ser456Pro)
c.805T>C (p.Ser269Pro)
c.956+5474T>C (n.956+5474T>C)
 gnomAD v4
2g.48963224A>TCA346767291FSHRc.1597T>A (p.Ser533Thr)
c.1519T>A (p.Ser507Thr)
c.1699T>A (p.Ser567Thr)
c.1366T>A (p.Ser456Thr)
c.805T>A (p.Ser269Thr)
c.956+5474T>A (n.956+5474T>A)
2g.48963225C>ACA346767292FSHRc.1596G>T (p.Met532Ile)
c.1518G>T (p.Met506Ile)
c.1698G>T (p.Met566Ile)
c.1365G>T (p.Met455Ile)
c.804G>T (p.Met268Ile)
c.956+5473G>T (n.956+5473G>T)
2g.48963225C=CA1248751066FSHRc.1596G= (p.Met532=)
c.1518G= (p.Met506=)
c.1698G= (p.Met566=)
c.1365G= (p.Met455=)
c.804G= (p.Met268=)
c.956+5473G= (n.956+5473G=)
2g.48963225C>GCA346767293FSHRc.1596G>C (p.Met532Ile)
c.1518G>C (p.Met506Ile)
c.1698G>C (p.Met566Ile)
c.1365G>C (p.Met455Ile)
c.804G>C (p.Met268Ile)
c.956+5473G>C (n.956+5473G>C)
2g.48963225C>TCA1653626FSHRc.1596G>A (p.Met532Ile)
c.1518G>A (p.Met506Ile)
c.1698G>A (p.Met566Ile)
c.1365G>A (p.Met455Ile)
c.804G>A (p.Met268Ile)
c.956+5473G>A (n.956+5473G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.48963225dupCA1248751065FSHRc.1596dup (p.Ser533ValfsTer?)
c.1518dup (p.Ser507ValfsTer?)
c.1698dup (p.Ser567ValfsTer?)
c.1365dup (p.Ser456ValfsTer?)
c.804dup (p.Ser269ValfsTer?)
c.956+5473dup (n.956+5473dup)
 dbSNP
2g.48963226A=CA1248751067FSHRc.1595T= (p.Met532=)
c.1517T= (p.Met506=)
c.1697T= (p.Met566=)
c.1364T= (p.Met455=)
c.803T= (p.Met268=)
c.956+5472T= (n.956+5472T=)
2g.48963226A>CCA346767294FSHRc.1595T>G (p.Met532Arg)
c.1517T>G (p.Met506Arg)
c.1697T>G (p.Met566Arg)
c.1364T>G (p.Met455Arg)
c.803T>G (p.Met268Arg)
c.956+5472T>G (n.956+5472T>G)
2g.48963226A>GCA47326934FSHRc.1595T>C (p.Met532Thr)
c.1517T>C (p.Met506Thr)
c.1697T>C (p.Met566Thr)
c.1364T>C (p.Met455Thr)
c.803T>C (p.Met268Thr)
c.956+5472T>C (n.956+5472T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.48963226A>TCA346767295FSHRc.1595T>A (p.Met532Lys)
c.1517T>A (p.Met506Lys)
c.1697T>A (p.Met566Lys)
c.1364T>A (p.Met455Lys)
c.803T>A (p.Met268Lys)
c.956+5472T>A (n.956+5472T>A)
2g.48963227T>ACA346767297FSHRc.1594A>T (p.Met532Leu)
c.1516A>T (p.Met506Leu)
c.1696A>T (p.Met566Leu)
c.1363A>T (p.Met455Leu)
c.802A>T (p.Met268Leu)
c.956+5471A>T (n.956+5471A>T)
 dbSNP gnomAD v4
2g.48963227T>CCA346767298FSHRc.1594A>G (p.Met532Val)
c.1516A>G (p.Met506Val)
c.1696A>G (p.Met566Val)
c.1363A>G (p.Met455Val)
c.802A>G (p.Met268Val)
c.956+5471A>G (n.956+5471A>G)
 gnomAD v4
2g.48963227T>GCA346767296FSHRc.1594A>C (p.Met532Leu)
c.1516A>C (p.Met506Leu)
c.1696A>C (p.Met566Leu)
c.1363A>C (p.Met455Leu)
c.802A>C (p.Met268Leu)
c.956+5471A>C (n.956+5471A>C)
2g.48963227T=CA1248751068FSHRc.1594A= (p.Met532=)
c.1516A= (p.Met506=)
c.1696A= (p.Met566=)
c.1363A= (p.Met455=)
c.802A= (p.Met268=)
c.956+5471A= (n.956+5471A=)
2g.48963228G>ACA426125051FSHRc.1593C>T (p.Val531=)
c.1515C>T (p.Val505=)
c.1695C>T (p.Val565=)
c.1362C>T (p.Val454=)
c.801C>T (p.Val267=)
c.956+5470C>T (n.956+5470C>T)
2g.48963228G>CCA426125053FSHRc.1593C>G (p.Val531=)
c.1515C>G (p.Val505=)
c.1695C>G (p.Val565=)
c.1362C>G (p.Val454=)
c.801C>G (p.Val267=)
c.956+5470C>G (n.956+5470C>G)
2g.48963228G>TCA426125054FSHRc.1593C>A (p.Val531=)
c.1515C>A (p.Val505=)
c.1695C>A (p.Val565=)
c.1362C>A (p.Val454=)
c.801C>A (p.Val267=)
c.956+5470C>A (n.956+5470C>A)
2g.48963229A=CA1248751069FSHRc.1592T= (p.Val531=)
c.1514T= (p.Val505=)
c.1694T= (p.Val565=)
c.1361T= (p.Val454=)
c.800T= (p.Val267=)
c.956+5469T= (n.956+5469T=)
2g.48963229A>CCA346767301FSHRc.1592T>G (p.Val531Gly)
c.1514T>G (p.Val505Gly)
c.1694T>G (p.Val565Gly)
c.1361T>G (p.Val454Gly)
c.800T>G (p.Val267Gly)
c.956+5469T>G (n.956+5469T>G)
2g.48963229A>GCA346767299FSHRc.1592T>C (p.Val531Ala)
c.1514T>C (p.Val505Ala)
c.1694T>C (p.Val565Ala)
c.1361T>C (p.Val454Ala)
c.800T>C (p.Val267Ala)
c.956+5469T>C (n.956+5469T>C)
 gnomAD v4
2g.48963229A>TCA346767300FSHRc.1592T>A (p.Val531Asp)
c.1514T>A (p.Val505Asp)
c.1694T>A (p.Val565Asp)
c.1361T>A (p.Val454Asp)
c.800T>A (p.Val267Asp)
c.956+5469T>A (n.956+5469T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48963230C>ACA346767302FSHRc.1591G>T (p.Val531Phe)
c.1513G>T (p.Val505Phe)
c.1693G>T (p.Val565Phe)
c.1360G>T (p.Val454Phe)
c.799G>T (p.Val267Phe)
c.956+5468G>T (n.956+5468G>T)
 gnomAD v4
2g.48963230C>GCA346767303FSHRc.1591G>C (p.Val531Leu)
c.1513G>C (p.Val505Leu)
c.1693G>C (p.Val565Leu)
c.1360G>C (p.Val454Leu)
c.799G>C (p.Val267Leu)
c.956+5468G>C (n.956+5468G>C)
 COSMIC
2g.48963230C>TCA346767304FSHRc.1591G>A (p.Val531Ile)
c.1513G>A (p.Val505Ile)
c.1693G>A (p.Val565Ile)
c.1360G>A (p.Val454Ile)
c.799G>A (p.Val267Ile)
c.956+5468G>A (n.956+5468G>A)
 gnomAD v4
2g.48963231A>CCA346767305FSHRc.1590T>G (p.Tyr530Ter)
c.1512T>G (p.Tyr504Ter)
c.1692T>G (p.Tyr564Ter)
c.1359T>G (p.Tyr453Ter)
c.798T>G (p.Tyr266Ter)
c.956+5467T>G (n.956+5467T>G)
 gnomAD v4
2g.48963231A>GCA426125058FSHRc.1590T>C (p.Tyr530=)
c.1512T>C (p.Tyr504=)
c.1692T>C (p.Tyr564=)
c.1359T>C (p.Tyr453=)
c.798T>C (p.Tyr266=)
c.956+5467T>C (n.956+5467T>C)
2g.48963231A>TCA346767306FSHRc.1590T>A (p.Tyr530Ter)
c.1512T>A (p.Tyr504Ter)
c.1692T>A (p.Tyr564Ter)
c.1359T>A (p.Tyr453Ter)
c.798T>A (p.Tyr266Ter)
c.956+5467T>A (n.956+5467T>A)
2g.48963232T>ACA346767307FSHRc.1589A>T (p.Tyr530Phe)
c.1511A>T (p.Tyr504Phe)
c.1691A>T (p.Tyr564Phe)
c.1358A>T (p.Tyr453Phe)
c.797A>T (p.Tyr266Phe)
c.956+5466A>T (n.956+5466A>T)
2g.48963232T>CCA346767309FSHRc.1589A>G (p.Tyr530Cys)
c.1511A>G (p.Tyr504Cys)
c.1691A>G (p.Tyr564Cys)
c.1358A>G (p.Tyr453Cys)
c.797A>G (p.Tyr266Cys)
c.956+5466A>G (n.956+5466A>G)
2g.48963232T>GCA346767308FSHRc.1589A>C (p.Tyr530Ser)
c.1511A>C (p.Tyr504Ser)
c.1691A>C (p.Tyr564Ser)
c.1358A>C (p.Tyr453Ser)
c.797A>C (p.Tyr266Ser)
c.956+5466A>C (n.956+5466A>C)
2g.48963233A>CCA346767310FSHRc.1588T>G (p.Tyr530Asp)
c.1510T>G (p.Tyr504Asp)
c.1690T>G (p.Tyr564Asp)
c.1357T>G (p.Tyr453Asp)
c.796T>G (p.Tyr266Asp)
c.956+5465T>G (n.956+5465T>G)
2g.48963233A>GCA346767311FSHRc.1588T>C (p.Tyr530His)
c.1510T>C (p.Tyr504His)
c.1690T>C (p.Tyr564His)
c.1357T>C (p.Tyr453His)
c.796T>C (p.Tyr266His)
c.956+5465T>C (n.956+5465T>C)
2g.48963233A>TCA346767312FSHRc.1588T>A (p.Tyr530Asn)
c.1510T>A (p.Tyr504Asn)
c.1690T>A (p.Tyr564Asn)
c.1357T>A (p.Tyr453Asn)
c.796T>A (p.Tyr266Asn)
c.956+5465T>A (n.956+5465T>A)
2g.48963234C>ACA426125063FSHRc.1587G>T (p.Leu529=)
c.1509G>T (p.Leu503=)
c.1689G>T (p.Leu563=)
c.1356G>T (p.Leu452=)
c.795G>T (p.Leu265=)
c.956+5464G>T (n.956+5464G>T)
2g.48963234C=CA1248751070FSHRc.1587G= (p.Leu529=)
c.1509G= (p.Leu503=)
c.1689G= (p.Leu563=)
c.1356G= (p.Leu452=)
c.795G= (p.Leu265=)
c.956+5464G= (n.956+5464G=)
2g.48963234C>GCA1653627FSHRc.1587G>C (p.Leu529=)
c.1509G>C (p.Leu503=)
c.1689G>C (p.Leu563=)
c.1356G>C (p.Leu452=)
c.795G>C (p.Leu265=)
c.956+5464G>C (n.956+5464G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48963234C>TCA426125066FSHRc.1587G>A (p.Leu529=)
c.1509G>A (p.Leu503=)
c.1689G>A (p.Leu563=)
c.1356G>A (p.Leu452=)
c.795G>A (p.Leu265=)
c.956+5464G>A (n.956+5464G>A)
 gnomAD v4
2g.48963235A=CA1248751071FSHRc.1586T= (p.Leu529=)
c.1508T= (p.Leu503=)
c.1688T= (p.Leu563=)
c.1355T= (p.Leu452=)
c.794T= (p.Leu265=)
c.956+5463T= (n.956+5463T=)
2g.48963235A>CCA346767313FSHRc.1586T>G (p.Leu529Arg)
c.1508T>G (p.Leu503Arg)
c.1688T>G (p.Leu563Arg)
c.1355T>G (p.Leu452Arg)
c.794T>G (p.Leu265Arg)
c.956+5463T>G (n.956+5463T>G)
2g.48963235A>GCA1653628FSHRc.1586T>C (p.Leu529Pro)
c.1508T>C (p.Leu503Pro)
c.1688T>C (p.Leu563Pro)
c.1355T>C (p.Leu452Pro)
c.794T>C (p.Leu265Pro)
c.956+5463T>C (n.956+5463T>C)
 dbSNP ExAC
2g.48963235A>TCA346767314FSHRc.1586T>A (p.Leu529Gln)
c.1508T>A (p.Leu503Gln)
c.1688T>A (p.Leu563Gln)
c.1355T>A (p.Leu452Gln)
c.794T>A (p.Leu265Gln)
c.956+5463T>A (n.956+5463T>A)
2g.48963236G>ACA426125068FSHRc.1585C>T (p.Leu529=)
c.1507C>T (p.Leu503=)
c.1687C>T (p.Leu563=)
c.1354C>T (p.Leu452=)
c.793C>T (p.Leu265=)
c.956+5462C>T (n.956+5462C>T)
2g.48963236G>CCA346767315FSHRc.1585C>G (p.Leu529Val)
c.1507C>G (p.Leu503Val)
c.1687C>G (p.Leu563Val)
c.1354C>G (p.Leu452Val)
c.793C>G (p.Leu265Val)
c.956+5462C>G (n.956+5462C>G)
2g.48963236G>TCA346767316FSHRc.1585C>A (p.Leu529Met)
c.1507C>A (p.Leu503Met)
c.1687C>A (p.Leu563Met)
c.1354C>A (p.Leu452Met)
c.793C>A (p.Leu265Met)
c.956+5462C>A (n.956+5462C>A)
2g.48963237C>ACA346767317FSHRc.1584G>T (p.Gln528His)
c.1506G>T (p.Gln502His)
c.1686G>T (p.Gln562His)
c.1353G>T (p.Gln451His)
c.792G>T (p.Gln264His)
c.956+5461G>T (n.956+5461G>T)
2g.48963237C>GCA346767318FSHRc.1584G>C (p.Gln528His)
c.1506G>C (p.Gln502His)
c.1686G>C (p.Gln562His)
c.1353G>C (p.Gln451His)
c.792G>C (p.Gln264His)
c.956+5461G>C (n.956+5461G>C)
2g.48963237C>TCA426125072FSHRc.1584G>A (p.Gln528=)
c.1506G>A (p.Gln502=)
c.1686G>A (p.Gln562=)
c.1353G>A (p.Gln451=)
c.792G>A (p.Gln264=)
c.956+5461G>A (n.956+5461G>A)
2g.48963238T>ACA346767319FSHRc.1583A>T (p.Gln528Leu)
c.1505A>T (p.Gln502Leu)
c.1685A>T (p.Gln562Leu)
c.1352A>T (p.Gln451Leu)
c.791A>T (p.Gln264Leu)
c.956+5460A>T (n.956+5460A>T)
2g.48963238T>CCA1653629FSHRc.1583A>G (p.Gln528Arg)
c.1505A>G (p.Gln502Arg)
c.1685A>G (p.Gln562Arg)
c.1352A>G (p.Gln451Arg)
c.791A>G (p.Gln264Arg)
c.956+5460A>G (n.956+5460A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48963238T>GCA346767320FSHRc.1583A>C (p.Gln528Pro)
c.1505A>C (p.Gln502Pro)
c.1685A>C (p.Gln562Pro)
c.1352A>C (p.Gln451Pro)
c.791A>C (p.Gln264Pro)
c.956+5460A>C (n.956+5460A>C)
2g.48963238T=CA1248751072FSHRc.1583A= (p.Gln528=)
c.1505A= (p.Gln502=)
c.1685A= (p.Gln562=)
c.1352A= (p.Gln451=)
c.791A= (p.Gln264=)
c.956+5460A= (n.956+5460A=)
2g.48963239G>ACA346767321FSHRc.1582C>T (p.Gln528Ter)
c.1504C>T (p.Gln502Ter)
c.1684C>T (p.Gln562Ter)
c.1351C>T (p.Gln451Ter)
c.790C>T (p.Gln264Ter)
c.956+5459C>T (n.956+5459C>T)
2g.48963239G>CCA346767322FSHRc.1582C>G (p.Gln528Glu)
c.1504C>G (p.Gln502Glu)
c.1684C>G (p.Gln562Glu)
c.1351C>G (p.Gln451Glu)
c.790C>G (p.Gln264Glu)
c.956+5459C>G (n.956+5459C>G)
 gnomAD v4
2g.48963239G=CA1248751073FSHRc.1582C= (p.Gln528=)
c.1504C= (p.Gln502=)
c.1684C= (p.Gln562=)
c.1351C= (p.Gln451=)
c.790C= (p.Gln264=)
c.956+5459C= (n.956+5459C=)
2g.48963239G>TCA1653630FSHRc.1582C>A (p.Gln528Lys)
c.1504C>A (p.Gln502Lys)
c.1684C>A (p.Gln562Lys)
c.1351C>A (p.Gln451Lys)
c.790C>A (p.Gln264Lys)
c.956+5459C>A (n.956+5459C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48963240T>ACA426125075FSHRc.1581A>T (p.Ser527=)
c.1503A>T (p.Ser501=)
c.1683A>T (p.Ser561=)
c.1350A>T (p.Ser450=)
c.789A>T (p.Ser263=)
c.956+5458A>T (n.956+5458A>T)
2g.48963240T>CCA426125076FSHRc.1581A>G (p.Ser527=)
c.1503A>G (p.Ser501=)
c.1683A>G (p.Ser561=)
c.1350A>G (p.Ser450=)
c.789A>G (p.Ser263=)
c.956+5458A>G (n.956+5458A>G)
 gnomAD v4
2g.48963240T>GCA426125077FSHRc.1581A>C (p.Ser527=)
c.1503A>C (p.Ser501=)
c.1683A>C (p.Ser561=)
c.1350A>C (p.Ser450=)
c.789A>C (p.Ser263=)
c.956+5458A>C (n.956+5458A>C)
2g.48963241G>ACA47326994FSHRc.1580C>T (p.Ser527Leu)
c.1502C>T (p.Ser501Leu)
c.1682C>T (p.Ser561Leu)
c.1349C>T (p.Ser450Leu)
c.788C>T (p.Ser263Leu)
c.956+5457C>T (n.956+5457C>T)
 dbSNP
2g.48963241G>CCA346767324FSHRc.1580C>G (p.Ser527Ter)
c.1502C>G (p.Ser501Ter)
c.1682C>G (p.Ser561Ter)
c.1349C>G (p.Ser450Ter)
c.788C>G (p.Ser263Ter)
c.956+5457C>G (n.956+5457C>G)
2g.48963241G=CA1248751074FSHRc.1580C= (p.Ser527=)
c.1502C= (p.Ser501=)
c.1682C= (p.Ser561=)
c.1349C= (p.Ser450=)
c.788C= (p.Ser263=)
c.956+5457C= (n.956+5457C=)
2g.48963241G>TCA346767323FSHRc.1580C>A (p.Ser527Ter)
c.1502C>A (p.Ser501Ter)
c.1682C>A (p.Ser561Ter)
c.1349C>A (p.Ser450Ter)
c.788C>A (p.Ser263Ter)
c.956+5457C>A (n.956+5457C>A)
2g.48963242A>CCA346767325FSHRc.1579T>G (p.Ser527Ala)
c.1501T>G (p.Ser501Ala)
c.1681T>G (p.Ser561Ala)
c.1348T>G (p.Ser450Ala)
c.787T>G (p.Ser263Ala)
c.956+5456T>G (n.956+5456T>G)
2g.48963242A>GCA346767326FSHRc.1579T>C (p.Ser527Pro)
c.1501T>C (p.Ser501Pro)
c.1681T>C (p.Ser561Pro)
c.1348T>C (p.Ser450Pro)
c.787T>C (p.Ser263Pro)
c.956+5456T>C (n.956+5456T>C)
2g.48963242A>TCA346767327FSHRc.1579T>A (p.Ser527Thr)
c.1501T>A (p.Ser501Thr)
c.1681T>A (p.Ser561Thr)
c.1348T>A (p.Ser450Thr)
c.787T>A (p.Ser263Thr)
c.956+5456T>A (n.956+5456T>A)
2g.48963243C>ACA346767328FSHRc.1578G>T (p.Leu526Phe)
c.1500G>T (p.Leu500Phe)
c.1680G>T (p.Leu560Phe)
c.1347G>T (p.Leu449Phe)
c.786G>T (p.Leu262Phe)
c.956+5455G>T (n.956+5455G>T)
 dbSNP gnomAD v4
2g.48963243C=CA1248751075FSHRc.1578G= (p.Leu526=)
c.1500G= (p.Leu500=)
c.1680G= (p.Leu560=)
c.1347G= (p.Leu449=)
c.786G= (p.Leu262=)
c.956+5455G= (n.956+5455G=)
2g.48963243C>GCA346767329FSHRc.1578G>C (p.Leu526Phe)
c.1500G>C (p.Leu500Phe)
c.1680G>C (p.Leu560Phe)
c.1347G>C (p.Leu449Phe)
c.786G>C (p.Leu262Phe)
c.956+5455G>C (n.956+5455G>C)
2g.48963243C>TCA426125079FSHRc.1578G>A (p.Leu526=)
c.1500G>A (p.Leu500=)
c.1680G>A (p.Leu560=)
c.1347G>A (p.Leu449=)
c.786G>A (p.Leu262=)
c.956+5455G>A (n.956+5455G>A)
2g.48963244A>CCA346767332FSHRc.1577T>G (p.Leu526Trp)
c.1499T>G (p.Leu500Trp)
c.1679T>G (p.Leu560Trp)
c.1346T>G (p.Leu449Trp)
c.785T>G (p.Leu262Trp)
c.956+5454T>G (n.956+5454T>G)
2g.48963244A>GCA346767331FSHRc.1577T>C (p.Leu526Ser)
c.1499T>C (p.Leu500Ser)
c.1679T>C (p.Leu560Ser)
c.1346T>C (p.Leu449Ser)
c.785T>C (p.Leu262Ser)
c.956+5454T>C (n.956+5454T>C)
2g.48963244A>TCA346767330FSHRc.1577T>A (p.Leu526Ter)
c.1499T>A (p.Leu500Ter)
c.1679T>A (p.Leu560Ter)
c.1346T>A (p.Leu449Ter)
c.785T>A (p.Leu262Ter)
c.956+5454T>A (n.956+5454T>A)
2g.48963245A=CA1248751076FSHRc.1576T= (p.Leu526=)
c.1498T= (p.Leu500=)
c.1678T= (p.Leu560=)
c.1345T= (p.Leu449=)
c.784T= (p.Leu262=)
c.956+5453T= (n.956+5453T=)
2g.48963245A>CCA47326996FSHRc.1576T>G (p.Leu526Val)
c.1498T>G (p.Leu500Val)
c.1678T>G (p.Leu560Val)
c.1345T>G (p.Leu449Val)
c.784T>G (p.Leu262Val)
c.956+5453T>G (n.956+5453T>G)
 dbSNP
2g.48963245A>GCA1653631FSHRc.1576T>C (p.Leu526=)
c.1498T>C (p.Leu500=)
c.1678T>C (p.Leu560=)
c.1345T>C (p.Leu449=)
c.784T>C (p.Leu262=)
c.956+5453T>C (n.956+5453T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48963245A>TCA346767333FSHRc.1576T>A (p.Leu526Met)
c.1498T>A (p.Leu500Met)
c.1678T>A (p.Leu560Met)
c.1345T>A (p.Leu449Met)
c.784T>A (p.Leu262Met)
c.956+5453T>A (n.956+5453T>A)
 gnomAD v4

Number of alleles fetched