Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48963022G>ACA47326576FSHRc.1799C>T (p.Pro600Leu)
c.1721C>T (p.Pro574Leu)
c.1901C>T (p.Pro634Leu)
c.1568C>T (p.Pro523Leu)
c.1007C>T (p.Pro336Leu)
c.956+5676C>T (n.956+5676C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.48963022G>CCA346766869FSHRc.1799C>G (p.Pro600Arg)
c.1721C>G (p.Pro574Arg)
c.1901C>G (p.Pro634Arg)
c.1568C>G (p.Pro523Arg)
c.1007C>G (p.Pro336Arg)
c.956+5676C>G (n.956+5676C>G)
2g.48963022G=CA1248750966FSHRc.1799C= (p.Pro600=)
c.1721C= (p.Pro574=)
c.1901C= (p.Pro634=)
c.1568C= (p.Pro523=)
c.1007C= (p.Pro336=)
c.956+5676C= (n.956+5676C=)
2g.48963022G>TCA346766870FSHRc.1799C>A (p.Pro600His)
c.1721C>A (p.Pro574His)
c.1901C>A (p.Pro634His)
c.1568C>A (p.Pro523His)
c.1007C>A (p.Pro336His)
c.956+5676C>A (n.956+5676C>A)
2g.48963023G>ACA1653589FSHRc.1798C>T (p.Pro600Ser)
c.1720C>T (p.Pro574Ser)
c.1900C>T (p.Pro634Ser)
c.1567C>T (p.Pro523Ser)
c.1006C>T (p.Pro336Ser)
c.956+5675C>T (n.956+5675C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48963023G>CCA346766872FSHRc.1798C>G (p.Pro600Ala)
c.1720C>G (p.Pro574Ala)
c.1900C>G (p.Pro634Ala)
c.1567C>G (p.Pro523Ala)
c.1006C>G (p.Pro336Ala)
c.956+5675C>G (n.956+5675C>G)
2g.48963023G=CA1248750967FSHRc.1798C= (p.Pro600=)
c.1720C= (p.Pro574=)
c.1900C= (p.Pro634=)
c.1567C= (p.Pro523=)
c.1006C= (p.Pro336=)
c.956+5675C= (n.956+5675C=)
2g.48963023G>TCA346766871FSHRc.1798C>A (p.Pro600Thr)
c.1720C>A (p.Pro574Thr)
c.1900C>A (p.Pro634Thr)
c.1567C>A (p.Pro523Thr)
c.1006C>A (p.Pro336Thr)
c.956+5675C>A (n.956+5675C>A)
 gnomAD v4
2g.48963024C>ACA426124648FSHRc.1797G>T (p.Val599=)
c.1719G>T (p.Val573=)
c.1899G>T (p.Val633=)
c.1566G>T (p.Val522=)
c.1005G>T (p.Val335=)
c.956+5674G>T (n.956+5674G>T)
2g.48963024C>GCA426124649FSHRc.1797G>C (p.Val599=)
c.1719G>C (p.Val573=)
c.1899G>C (p.Val633=)
c.1566G>C (p.Val522=)
c.1005G>C (p.Val335=)
c.956+5674G>C (n.956+5674G>C)
2g.48963024C>TCA426124650FSHRc.1797G>A (p.Val599=)
c.1719G>A (p.Val573=)
c.1899G>A (p.Val633=)
c.1566G>A (p.Val522=)
c.1005G>A (p.Val335=)
c.956+5674G>A (n.956+5674G>A)
 gnomAD v4
2g.48963025A>CCA346766873FSHRc.1796T>G (p.Val599Gly)
c.1718T>G (p.Val573Gly)
c.1898T>G (p.Val633Gly)
c.1565T>G (p.Val522Gly)
c.1004T>G (p.Val335Gly)
c.956+5673T>G (n.956+5673T>G)
2g.48963025A>GCA346766874FSHRc.1796T>C (p.Val599Ala)
c.1718T>C (p.Val573Ala)
c.1898T>C (p.Val633Ala)
c.1565T>C (p.Val522Ala)
c.1004T>C (p.Val335Ala)
c.956+5673T>C (n.956+5673T>C)
2g.48963025A>TCA346766875FSHRc.1796T>A (p.Val599Glu)
c.1718T>A (p.Val573Glu)
c.1898T>A (p.Val633Glu)
c.1565T>A (p.Val522Glu)
c.1004T>A (p.Val335Glu)
c.956+5673T>A (n.956+5673T>A)
2g.48963026C>ACA346766876FSHRc.1795G>T (p.Val599Leu)
c.1717G>T (p.Val573Leu)
c.1897G>T (p.Val633Leu)
c.1564G>T (p.Val522Leu)
c.1003G>T (p.Val335Leu)
c.956+5672G>T (n.956+5672G>T)
2g.48963026C=CA1248750968FSHRc.1795G= (p.Val599=)
c.1717G= (p.Val573=)
c.1897G= (p.Val633=)
c.1564G= (p.Val522=)
c.1003G= (p.Val335=)
c.956+5672G= (n.956+5672G=)
2g.48963026C>GCA1653590FSHRc.1795G>C (p.Val599Leu)
c.1717G>C (p.Val573Leu)
c.1897G>C (p.Val633Leu)
c.1564G>C (p.Val522Leu)
c.1003G>C (p.Val335Leu)
c.956+5672G>C (n.956+5672G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48963026C>TCA346766877FSHRc.1795G>A (p.Val599Met)
c.1717G>A (p.Val573Met)
c.1897G>A (p.Val633Met)
c.1564G>A (p.Val522Met)
c.1003G>A (p.Val335Met)
c.956+5672G>A (n.956+5672G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48963027C>ACA346766878FSHRc.1794G>T (p.Lys598Asn)
c.1716G>T (p.Lys572Asn)
c.1896G>T (p.Lys632Asn)
c.1563G>T (p.Lys521Asn)
c.1002G>T (p.Lys334Asn)
c.956+5671G>T (n.956+5671G>T)
2g.48963027C>GCA346766879FSHRc.1794G>C (p.Lys598Asn)
c.1716G>C (p.Lys572Asn)
c.1896G>C (p.Lys632Asn)
c.1563G>C (p.Lys521Asn)
c.1002G>C (p.Lys334Asn)
c.956+5671G>C (n.956+5671G>C)
 gnomAD v4
2g.48963027C>TCA426124651FSHRc.1794G>A (p.Lys598=)
c.1716G>A (p.Lys572=)
c.1896G>A (p.Lys632=)
c.1563G>A (p.Lys521=)
c.1002G>A (p.Lys334=)
c.956+5671G>A (n.956+5671G>A)
 gnomAD v4
2g.48963028T>ACA346766880FSHRc.1793A>T (p.Lys598Met)
c.1715A>T (p.Lys572Met)
c.1895A>T (p.Lys632Met)
c.1562A>T (p.Lys521Met)
c.1001A>T (p.Lys334Met)
c.956+5670A>T (n.956+5670A>T)
2g.48963028T>CCA346766881FSHRc.1793A>G (p.Lys598Arg)
c.1715A>G (p.Lys572Arg)
c.1895A>G (p.Lys632Arg)
c.1562A>G (p.Lys521Arg)
c.1001A>G (p.Lys334Arg)
c.956+5670A>G (n.956+5670A>G)
2g.48963028T>GCA346766882FSHRc.1793A>C (p.Lys598Thr)
c.1715A>C (p.Lys572Thr)
c.1895A>C (p.Lys632Thr)
c.1562A>C (p.Lys521Thr)
c.1001A>C (p.Lys334Thr)
c.956+5670A>C (n.956+5670A>C)
2g.48963029T>ACA346766883FSHRc.1792A>T (p.Lys598Ter)
c.1714A>T (p.Lys572Ter)
c.1894A>T (p.Lys632Ter)
c.1561A>T (p.Lys521Ter)
c.1000A>T (p.Lys334Ter)
c.956+5669A>T (n.956+5669A>T)
2g.48963029T>CCA1653591FSHRc.1792A>G (p.Lys598Glu)
c.1714A>G (p.Lys572Glu)
c.1894A>G (p.Lys632Glu)
c.1561A>G (p.Lys521Glu)
c.1000A>G (p.Lys334Glu)
c.956+5669A>G (n.956+5669A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48963029T>GCA346766884FSHRc.1792A>C (p.Lys598Gln)
c.1714A>C (p.Lys572Gln)
c.1894A>C (p.Lys632Gln)
c.1561A>C (p.Lys521Gln)
c.1000A>C (p.Lys334Gln)
c.956+5669A>C (n.956+5669A>C)
2g.48963029T=CA1248750969FSHRc.1792A= (p.Lys598=)
c.1714A= (p.Lys572=)
c.1894A= (p.Lys632=)
c.1561A= (p.Lys521=)
c.1000A= (p.Lys334=)
c.956+5669A= (n.956+5669A=)
2g.48963030G>ACA426124652FSHRc.1791C>T (p.Leu597=)
c.1713C>T (p.Leu571=)
c.1893C>T (p.Leu631=)
c.1560C>T (p.Leu520=)
c.999C>T (p.Leu333=)
c.956+5668C>T (n.956+5668C>T)
2g.48963030G>CCA426124653FSHRc.1791C>G (p.Leu597=)
c.1713C>G (p.Leu571=)
c.1893C>G (p.Leu631=)
c.1560C>G (p.Leu520=)
c.999C>G (p.Leu333=)
c.956+5668C>G (n.956+5668C>G)
2g.48963030G>TCA426124654FSHRc.1791C>A (p.Leu597=)
c.1713C>A (p.Leu571=)
c.1893C>A (p.Leu631=)
c.1560C>A (p.Leu520=)
c.999C>A (p.Leu333=)
c.956+5668C>A (n.956+5668C>A)
2g.48963031A>CCA346766886FSHRc.1790T>G (p.Leu597Arg)
c.1712T>G (p.Leu571Arg)
c.1892T>G (p.Leu631Arg)
c.1559T>G (p.Leu520Arg)
c.998T>G (p.Leu333Arg)
c.956+5667T>G (n.956+5667T>G)
2g.48963031A>GCA346766887FSHRc.1790T>C (p.Leu597Pro)
c.1712T>C (p.Leu571Pro)
c.1892T>C (p.Leu631Pro)
c.1559T>C (p.Leu520Pro)
c.998T>C (p.Leu333Pro)
c.956+5667T>C (n.956+5667T>C)
2g.48963031A>TCA346766885FSHRc.1790T>A (p.Leu597His)
c.1712T>A (p.Leu571His)
c.1892T>A (p.Leu631His)
c.1559T>A (p.Leu520His)
c.998T>A (p.Leu333His)
c.956+5667T>A (n.956+5667T>A)
2g.48963032G>ACA346766889FSHRc.1789C>T (p.Leu597Phe)
c.1711C>T (p.Leu571Phe)
c.1891C>T (p.Leu631Phe)
c.1558C>T (p.Leu520Phe)
c.997C>T (p.Leu333Phe)
c.956+5666C>T (n.956+5666C>T)
 dbSNP
2g.48963032G>CCA346766888FSHRc.1789C>G (p.Leu597Val)
c.1711C>G (p.Leu571Val)
c.1891C>G (p.Leu631Val)
c.1558C>G (p.Leu520Val)
c.997C>G (p.Leu333Val)
c.956+5666C>G (n.956+5666C>G)
2g.48963032G=CA1248750970FSHRc.1789C= (p.Leu597=)
c.1711C= (p.Leu571=)
c.1891C= (p.Leu631=)
c.1558C= (p.Leu520=)
c.997C= (p.Leu333=)
c.956+5666C= (n.956+5666C=)
2g.48963032G>TCA346766890FSHRc.1789C>A (p.Leu597Ile)
c.1711C>A (p.Leu571Ile)
c.1891C>A (p.Leu631Ile)
c.1558C>A (p.Leu520Ile)
c.997C>A (p.Leu333Ile)
c.956+5666C>A (n.956+5666C>A)
 dbSNP
2g.48963033G>ACA426124655FSHRc.1788C>T (p.Ser596=)
c.1710C>T (p.Ser570=)
c.1890C>T (p.Ser630=)
c.1557C>T (p.Ser519=)
c.996C>T (p.Ser332=)
c.956+5665C>T (n.956+5665C>T)
 dbSNP
2g.48963033G>CCA426124657FSHRc.1788C>G (p.Ser596=)
c.1710C>G (p.Ser570=)
c.1890C>G (p.Ser630=)
c.1557C>G (p.Ser519=)
c.996C>G (p.Ser332=)
c.956+5665C>G (n.956+5665C>G)
2g.48963033G=CA1248750971FSHRc.1788C= (p.Ser596=)
c.1710C= (p.Ser570=)
c.1890C= (p.Ser630=)
c.1557C= (p.Ser519=)
c.996C= (p.Ser332=)
c.956+5665C= (n.956+5665C=)
2g.48963033G>TCA426124656FSHRc.1788C>A (p.Ser596=)
c.1710C>A (p.Ser570=)
c.1890C>A (p.Ser630=)
c.1557C>A (p.Ser519=)
c.996C>A (p.Ser332=)
c.956+5665C>A (n.956+5665C>A)
2g.48963034G>ACA346766891FSHRc.1787C>T (p.Ser596Phe)
c.1709C>T (p.Ser570Phe)
c.1889C>T (p.Ser630Phe)
c.1556C>T (p.Ser519Phe)
c.995C>T (p.Ser332Phe)
c.956+5664C>T (n.956+5664C>T)
2g.48963034G>CCA346766892FSHRc.1787C>G (p.Ser596Cys)
c.1709C>G (p.Ser570Cys)
c.1889C>G (p.Ser630Cys)
c.1556C>G (p.Ser519Cys)
c.995C>G (p.Ser332Cys)
c.956+5664C>G (n.956+5664C>G)
2g.48963034G>TCA346766893FSHRc.1787C>A (p.Ser596Tyr)
c.1709C>A (p.Ser570Tyr)
c.1889C>A (p.Ser630Tyr)
c.1556C>A (p.Ser519Tyr)
c.995C>A (p.Ser332Tyr)
c.956+5664C>A (n.956+5664C>A)
2g.48963035A=CA1248750972FSHRc.1786T= (p.Ser596=)
c.1708T= (p.Ser570=)
c.1888T= (p.Ser630=)
c.1555T= (p.Ser519=)
c.994T= (p.Ser332=)
c.956+5663T= (n.956+5663T=)
2g.48963035A>CCA346766894FSHRc.1786T>G (p.Ser596Ala)
c.1708T>G (p.Ser570Ala)
c.1888T>G (p.Ser630Ala)
c.1555T>G (p.Ser519Ala)
c.994T>G (p.Ser332Ala)
c.956+5663T>G (n.956+5663T>G)
2g.48963035A>GCA346766895FSHRc.1786T>C (p.Ser596Pro)
c.1708T>C (p.Ser570Pro)
c.1888T>C (p.Ser630Pro)
c.1555T>C (p.Ser519Pro)
c.994T>C (p.Ser332Pro)
c.956+5663T>C (n.956+5663T>C)
 gnomAD v3 gnomAD v4
2g.48963035A>TCA1653592FSHRc.1786T>A (p.Ser596Thr)
c.1708T>A (p.Ser570Thr)
c.1888T>A (p.Ser630Thr)
c.1555T>A (p.Ser519Thr)
c.994T>A (p.Ser332Thr)
c.956+5663T>A (n.956+5663T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48963036G>ACA426124658FSHRc.1785C>T (p.Ala595=)
c.1707C>T (p.Ala569=)
c.1887C>T (p.Ala629=)
c.1554C>T (p.Ala518=)
c.993C>T (p.Ala331=)
c.956+5662C>T (n.956+5662C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched