Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.111919185A>CCA434879739PHLDB2c.1833A>C (p.Ile611=)
c.1193A>C
c.1914A>C (p.Ile638=)
c.591A>C (p.Ile197=)
 COSMIC COSMIC COSMIC
3g.111919185A>GCA353713798PHLDB2c.1833A>G (p.Ile611Met)
c.1193A>G
c.1914A>G (p.Ile638Met)
c.591A>G (p.Ile197Met)
3g.111919185A>TCA434879743PHLDB2c.1833A>T (p.Ile611=)
c.1193A>T
c.1914A>T (p.Ile638=)
c.591A>T (p.Ile197=)
3g.111919186A>CCA353713799PHLDB2c.1834A>C (p.Asn612His)
c.1194A>C
c.1915A>C (p.Asn639His)
c.592A>C (p.Asn198His)
3g.111919186A>GCA353713800PHLDB2c.1834A>G (p.Asn612Asp)
c.1194A>G
c.1915A>G (p.Asn639Asp)
c.592A>G (p.Asn198Asp)
3g.111919186A>TCA353713802PHLDB2c.1834A>T (p.Asn612Tyr)
c.1194A>T
c.1915A>T (p.Asn639Tyr)
c.592A>T (p.Asn198Tyr)
 gnomAD v4
3g.111919187A>CCA353713804PHLDB2c.1835A>C (p.Asn612Thr)
c.1195A>C
c.1916A>C (p.Asn639Thr)
c.593A>C (p.Asn198Thr)
3g.111919187A>GCA353713806PHLDB2c.1835A>G (p.Asn612Ser)
c.1195A>G
c.1916A>G (p.Asn639Ser)
c.593A>G (p.Asn198Ser)
3g.111919187A>TCA353713809PHLDB2c.1835A>T (p.Asn612Ile)
c.1195A>T
c.1916A>T (p.Asn639Ile)
c.593A>T (p.Asn198Ile)
3g.111919188T>ACA353713813PHLDB2c.1836T>A (p.Asn612Lys)
c.1196T>A
c.1917T>A (p.Asn639Lys)
c.594T>A (p.Asn198Lys)
3g.111919188T>CCA434879762PHLDB2c.1836T>C (p.Asn612=)
c.1196T>C
c.1917T>C (p.Asn639=)
c.594T>C (p.Asn198=)
3g.111919188T>GCA353713811PHLDB2c.1836T>G (p.Asn612Lys)
c.1196T>G
c.1917T>G (p.Asn639Lys)
c.594T>G (p.Asn198Lys)
3g.111919189G>ACA353713814PHLDB2c.1837G>A (p.Asp613Asn)
c.1197G>A
c.1918G>A (p.Asp640Asn)
c.595G>A (p.Asp199Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.111919189G>CCA353713815PHLDB2c.1837G>C (p.Asp613His)
c.1197G>C
c.1918G>C (p.Asp640His)
c.595G>C (p.Asp199His)
3g.111919189G=CA1393619859PHLDB2c.1837G= (p.Asp613=)
c.1197G=
c.1918G= (p.Asp640=)
c.595G= (p.Asp199=)
3g.111919189G>TCA353713816PHLDB2c.1837G>T (p.Asp613Tyr)
c.1197G>T
c.1918G>T (p.Asp640Tyr)
c.595G>T (p.Asp199Tyr)
 dbSNP gnomAD v3 gnomAD v4
3g.111919189_111919190insGATTATTCACACCTCAGTTCTAGACA916980367PHLDB2c.1837_1838insGATTATTCACACCTCAGTTCTAGA (p.Asp613GlyfsTer8)
c.1197_1198insGATTATTCACACCTCAGTTCTAGA
c.1918_1919insGATTATTCACACCTCAGTTCTAGA (p.Asp640GlyfsTer8)
c.595_596insGATTATTCACACCTCAGTTCTAGA (p.Asp199GlyfsTer8)
 dbSNP
3g.111919190A>CCA353713818PHLDB2c.1838A>C (p.Asp613Ala)
c.1198A>C
c.1919A>C (p.Asp640Ala)
c.596A>C (p.Asp199Ala)
3g.111919190A>GCA353713819PHLDB2c.1838A>G (p.Asp613Gly)
c.1198A>G
c.1919A>G (p.Asp640Gly)
c.596A>G (p.Asp199Gly)
 gnomAD v4
3g.111919190A>TCA353713820PHLDB2c.1838A>T (p.Asp613Val)
c.1198A>T
c.1919A>T (p.Asp640Val)
c.596A>T (p.Asp199Val)
3g.111919191T>ACA353713821PHLDB2c.1839T>A (p.Asp613Glu)
c.1199T>A
c.1920T>A (p.Asp640Glu)
c.597T>A (p.Asp199Glu)
3g.111919191T>CCA434879770PHLDB2c.1839T>C (p.Asp613=)
c.1199T>C
c.1920T>C (p.Asp640=)
c.597T>C (p.Asp199=)
 dbSNP
3g.111919191T>GCA353713822PHLDB2c.1839T>G (p.Asp613Glu)
c.1199T>G
c.1920T>G (p.Asp640Glu)
c.597T>G (p.Asp199Glu)
3g.111919191T=CA1393619861PHLDB2c.1839T= (p.Asp613=)
c.1199T=
c.1920T= (p.Asp640=)
c.597T= (p.Asp199=)
3g.111919192C>ACA2535624PHLDB2c.1840C>A (p.Gln614Lys)
c.1200C>A
c.1921C>A (p.Gln641Lys)
c.598C>A (p.Gln200Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
3g.111919192C=CA1393619865PHLDB2c.1840C= (p.Gln614=)
c.1200C=
c.1921C= (p.Gln641=)
c.598C= (p.Gln200=)
3g.111919192C>GCA353713823PHLDB2c.1840C>G (p.Gln614Glu)
c.1200C>G
c.1921C>G (p.Gln641Glu)
c.598C>G (p.Gln200Glu)
3g.111919192C>TCA353713825PHLDB2c.1840C>T (p.Gln614Ter)
c.1200C>T
c.1921C>T (p.Gln641Ter)
c.598C>T (p.Gln200Ter)
 dbSNP
3g.111919193A>CCA353713827PHLDB2c.1841A>C (p.Gln614Pro)
c.1201A>C
c.1922A>C (p.Gln641Pro)
c.599A>C (p.Gln200Pro)
3g.111919193A>GCA353713828PHLDB2c.1841A>G (p.Gln614Arg)
c.1201A>G
c.1922A>G (p.Gln641Arg)
c.599A>G (p.Gln200Arg)
3g.111919193A>TCA353713829PHLDB2c.1841A>T (p.Gln614Leu)
c.1201A>T
c.1922A>T (p.Gln641Leu)
c.599A>T (p.Gln200Leu)
3g.111919193_111919196delCA2666930620PHLDB2c.1841_1844del (p.Gln614ArgfsTer27)
c.1201_1204del
c.1922_1925del (p.Gln641ArgfsTer27)
c.599_602del (p.Gln200ArgfsTer27)
 gnomAD v4
3g.111919194G>ACA434879782PHLDB2c.1842G>A (p.Gln614=)
c.1202G>A
c.1923G>A (p.Gln641=)
c.600G>A (p.Gln200=)
 dbSNP gnomAD v2 gnomAD v4
3g.111919194G>CCA353713830PHLDB2c.1842G>C (p.Gln614His)
c.1202G>C
c.1923G>C (p.Gln641His)
c.600G>C (p.Gln200His)
3g.111919194G=CA1393619866PHLDB2c.1842G= (p.Gln614=)
c.1202G=
c.1923G= (p.Gln641=)
c.600G= (p.Gln200=)
3g.111919194G>TCA353713831PHLDB2c.1842G>T (p.Gln614His)
c.1202G>T
c.1923G>T (p.Gln641His)
c.600G>T (p.Gln200His)
3g.111919195A=CA1393619868PHLDB2c.1843A= (p.Met615=)
c.1203A=
c.1924A= (p.Met642=)
c.601A= (p.Met201=)
3g.111919195A>CCA353713838PHLDB2c.1843A>C (p.Met615Leu)
c.1203A>C
c.1924A>C (p.Met642Leu)
c.601A>C (p.Met201Leu)
3g.111919195A>GCA353713841PHLDB2c.1843A>G (p.Met615Val)
c.1203A>G
c.1924A>G (p.Met642Val)
c.601A>G (p.Met201Val)
 dbSNP gnomAD v4
3g.111919195A>TCA353713845PHLDB2c.1843A>T (p.Met615Leu)
c.1203A>T
c.1924A>T (p.Met642Leu)
c.601A>T (p.Met201Leu)
3g.111919196T>ACA353713847PHLDB2c.1844T>A (p.Met615Lys)
c.1204T>A
c.1925T>A (p.Met642Lys)
c.602T>A (p.Met201Lys)
3g.111919196T>CCA353713848PHLDB2c.1844T>C (p.Met615Thr)
c.1204T>C
c.1925T>C (p.Met642Thr)
c.602T>C (p.Met201Thr)
3g.111919196T>GCA353713849PHLDB2c.1844T>G (p.Met615Arg)
c.1204T>G
c.1925T>G (p.Met642Arg)
c.602T>G (p.Met201Arg)
3g.111919197G>ACA2535625PHLDB2c.1845G>A (p.Met615Ile)
c.1205G>A
c.1926G>A (p.Met642Ile)
c.603G>A (p.Met201Ile)
 dbSNP ExAC gnomAD v2
3g.111919197G>CCA353713850PHLDB2c.1845G>C (p.Met615Ile)
c.1205G>C
c.1926G>C (p.Met642Ile)
c.603G>C (p.Met201Ile)
3g.111919197G=CA1393619870PHLDB2c.1845G= (p.Met615=)
c.1205G=
c.1926G= (p.Met642=)
c.603G= (p.Met201=)
3g.111919197G>TCA353713852PHLDB2c.1845G>T (p.Met615Ile)
c.1205G>T
c.1926G>T (p.Met642Ile)
c.603G>T (p.Met201Ile)
3g.111919198G>ACA353713855PHLDB2c.1846G>A (p.Asp616Asn)
c.1206G>A
c.1927G>A (p.Asp643Asn)
c.604G>A (p.Asp202Asn)
 COSMIC COSMIC COSMIC
3g.111919198G>CCA353713859PHLDB2c.1846G>C (p.Asp616His)
c.1206G>C
c.1927G>C (p.Asp643His)
c.604G>C (p.Asp202His)
3g.111919198G>TCA353713861PHLDB2c.1846G>T (p.Asp616Tyr)
c.1206G>T
c.1927G>T (p.Asp643Tyr)
c.604G>T (p.Asp202Tyr)
3g.111919199A>CCA353713867PHLDB2c.1847A>C (p.Asp616Ala)
c.1207A>C
c.1928A>C (p.Asp643Ala)
c.605A>C (p.Asp202Ala)
3g.111919199A>GCA353713868PHLDB2c.1847A>G (p.Asp616Gly)
c.1207A>G
c.1928A>G (p.Asp643Gly)
c.605A>G (p.Asp202Gly)
3g.111919199A>TCA353713865PHLDB2c.1847A>T (p.Asp616Val)
c.1207A>T
c.1928A>T (p.Asp643Val)
c.605A>T (p.Asp202Val)
3g.111919200T>ACA353713869PHLDB2c.1848T>A (p.Asp616Glu)
c.1208T>A
c.1929T>A (p.Asp643Glu)
c.606T>A (p.Asp202Glu)
3g.111919200T>CCA434879805PHLDB2c.1848T>C (p.Asp616=)
c.1208T>C
c.1929T>C (p.Asp643=)
c.606T>C (p.Asp202=)
 dbSNP gnomAD v3 gnomAD v4
3g.111919200T>GCA353713872PHLDB2c.1848T>G (p.Asp616Glu)
c.1208T>G
c.1929T>G (p.Asp643Glu)
c.606T>G (p.Asp202Glu)
3g.111919200T=CA1393619876PHLDB2c.1848T= (p.Asp616=)
c.1208T=
c.1929T= (p.Asp643=)
c.606T= (p.Asp202=)
3g.111919201G>ACA353713874PHLDB2c.1849G>A (p.Glu617Lys)
c.1209G>A
c.1930G>A (p.Glu644Lys)
c.607G>A (p.Glu203Lys)
3g.111919201G>CCA353713877PHLDB2c.1849G>C (p.Glu617Gln)
c.1209G>C
c.1930G>C (p.Glu644Gln)
c.607G>C (p.Glu203Gln)
 dbSNP gnomAD v4
3g.111919201G=CA1393619880PHLDB2c.1849G= (p.Glu617=)
c.1209G=
c.1930G= (p.Glu644=)
c.607G= (p.Glu203=)
3g.111919201G>TCA353713882PHLDB2c.1849G>T (p.Glu617Ter)
c.1209G>T
c.1930G>T (p.Glu644Ter)
c.607G>T (p.Glu203Ter)
3g.111919202A>CCA353713897PHLDB2c.1850A>C (p.Glu617Ala)
c.1210A>C
c.1931A>C (p.Glu644Ala)
c.608A>C (p.Glu203Ala)
3g.111919202A>GCA353713884PHLDB2c.1850A>G (p.Glu617Gly)
c.1210A>G
c.1931A>G (p.Glu644Gly)
c.608A>G (p.Glu203Gly)
3g.111919202A>TCA353713894PHLDB2c.1850A>T (p.Glu617Val)
c.1210A>T
c.1931A>T (p.Glu644Val)
c.608A>T (p.Glu203Val)
3g.111919203G>ACA434879819PHLDB2c.1851G>A (p.Glu617=)
c.1211G>A
c.1932G>A (p.Glu644=)
c.609G>A (p.Glu203=)
 dbSNP
3g.111919203G>CCA353713898PHLDB2c.1851G>C (p.Glu617Asp)
c.1211G>C
c.1932G>C (p.Glu644Asp)
c.609G>C (p.Glu203Asp)
3g.111919203G=CA1393619883PHLDB2c.1851G= (p.Glu617=)
c.1211G=
c.1932G= (p.Glu644=)
c.609G= (p.Glu203=)
3g.111919203G>TCA353713901PHLDB2c.1851G>T (p.Glu617Asp)
c.1211G>T
c.1932G>T (p.Glu644Asp)
c.609G>T (p.Glu203Asp)
3g.111919204T>ACA353713903PHLDB2c.1852T>A (p.Ser618Thr)
c.1212T>A
c.1933T>A (p.Ser645Thr)
c.610T>A (p.Ser204Thr)
3g.111919204T>CCA2535626PHLDB2c.1852T>C (p.Ser618Pro)
c.1212T>C
c.1933T>C (p.Ser645Pro)
c.610T>C (p.Ser204Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.111919204T>GCA353713904PHLDB2c.1852T>G (p.Ser618Ala)
c.1212T>G
c.1933T>G (p.Ser645Ala)
c.610T>G (p.Ser204Ala)
 gnomAD v4
3g.111919204T=CA1393619887PHLDB2c.1852T= (p.Ser618=)
c.1212T=
c.1933T= (p.Ser645=)
c.610T= (p.Ser204=)
3g.111919205C>ACA353713906PHLDB2c.1853C>A (p.Ser618Tyr)
c.1213C>A
c.1934C>A (p.Ser645Tyr)
c.611C>A (p.Ser204Tyr)
3g.111919205C>GCA353713913PHLDB2c.1853C>G (p.Ser618Cys)
c.1213C>G
c.1934C>G (p.Ser645Cys)
c.611C>G (p.Ser204Cys)
3g.111919205C>TCA353713908PHLDB2c.1853C>T (p.Ser618Phe)
c.1213C>T
c.1934C>T (p.Ser645Phe)
c.611C>T (p.Ser204Phe)
3g.111919206T>ACA434879835PHLDB2c.1854T>A (p.Ser618=)
c.1214T>A
c.1935T>A (p.Ser645=)
c.612T>A (p.Ser204=)
3g.111919206T>CCA434879837PHLDB2c.1854T>C (p.Ser618=)
c.1214T>C
c.1935T>C (p.Ser645=)
c.612T>C (p.Ser204=)
3g.111919206T>GCA434879839PHLDB2c.1854T>G (p.Ser618=)
c.1214T>G
c.1935T>G (p.Ser645=)
c.612T>G (p.Ser204=)
3g.111919207T>ACA353713915PHLDB2c.1855T>A (p.Phe619Ile)
c.1215T>A
c.1936T>A (p.Phe646Ile)
c.613T>A (p.Phe205Ile)
3g.111919207T>CCA353713926PHLDB2c.1855T>C (p.Phe619Leu)
c.1215T>C
c.1936T>C (p.Phe646Leu)
c.613T>C (p.Phe205Leu)
3g.111919207T>GCA2535627PHLDB2c.1855T>G (p.Phe619Val)
c.1215T>G
c.1936T>G (p.Phe646Val)
c.613T>G (p.Phe205Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.111919207T=CA1393619891PHLDB2c.1855T= (p.Phe619=)
c.1215T=
c.1936T= (p.Phe646=)
c.613T= (p.Phe205=)
3g.111919208T>ACA353713927PHLDB2c.1856T>A (p.Phe619Tyr)
c.1216T>A
c.1937T>A (p.Phe646Tyr)
c.614T>A (p.Phe205Tyr)
3g.111919208T>CCA353713931PHLDB2c.1856T>C (p.Phe619Ser)
c.1216T>C
c.1937T>C (p.Phe646Ser)
c.614T>C (p.Phe205Ser)
3g.111919208T>GCA353713934PHLDB2c.1856T>G (p.Phe619Cys)
c.1216T>G
c.1937T>G (p.Phe646Cys)
c.614T>G (p.Phe205Cys)
3g.111919209C>ACA353713939PHLDB2c.1857C>A (p.Phe619Leu)
c.1217C>A
c.1938C>A (p.Phe646Leu)
c.615C>A (p.Phe205Leu)
3g.111919209C>GCA353713948PHLDB2c.1857C>G (p.Phe619Leu)
c.1217C>G
c.1938C>G (p.Phe646Leu)
c.615C>G (p.Phe205Leu)
3g.111919209C>TCA434879853PHLDB2c.1857C>T (p.Phe619=)
c.1217C>T
c.1938C>T (p.Phe646=)
c.615C>T (p.Phe205=)
3g.111919210A=CA1393619896PHLDB2c.1858A= (p.Arg620=)
c.1218A=
c.1939A= (p.Arg647=)
c.616A= (p.Arg206=)
3g.111919210A>CCA434879855PHLDB2c.1858A>C (p.Arg620=)
c.1218A>C
c.1939A>C (p.Arg647=)
c.616A>C (p.Arg206=)
3g.111919210A>GCA353713949PHLDB2c.1858A>G (p.Arg620Gly)
c.1218A>G
c.1939A>G (p.Arg647Gly)
c.616A>G (p.Arg206Gly)
 dbSNP
3g.111919210A>TCA353713952PHLDB2c.1858A>T (p.Arg620Ter)
c.1218A>T
c.1939A>T (p.Arg647Ter)
c.616A>T (p.Arg206Ter)
3g.111919211G>ACA353713957PHLDB2c.1859G>A (p.Arg620Lys)
c.1219G>A
c.1940G>A (p.Arg647Lys)
c.617G>A (p.Arg206Lys)
 gnomAD v4
3g.111919211G>CCA353713959PHLDB2c.1859G>C (p.Arg620Thr)
c.1219G>C
c.1940G>C (p.Arg647Thr)
c.617G>C (p.Arg206Thr)
3g.111919211G>TCA353713963PHLDB2c.1859G>T (p.Arg620Ile)
c.1219G>T
c.1940G>T (p.Arg647Ile)
c.617G>T (p.Arg206Ile)
3g.111919212A>CCA353713966PHLDB2c.1860A>C (p.Arg620Ser)
c.1220A>C
c.1941A>C (p.Arg647Ser)
c.618A>C (p.Arg206Ser)
3g.111919212A>GCA434879864PHLDB2c.1860A>G (p.Arg620=)
c.1220A>G
c.1941A>G (p.Arg647=)
c.618A>G (p.Arg206=)
3g.111919212A>TCA353713967PHLDB2c.1860A>T (p.Arg620Ser)
c.1220A>T
c.1941A>T (p.Arg647Ser)
c.618A>T (p.Arg206Ser)
3g.111919213G>ACA353713973PHLDB2c.1861G>A (p.Glu621Lys)
c.1221G>A
c.1942G>A (p.Glu648Lys)
c.619G>A (p.Glu207Lys)
3g.111919213G>CCA353713968PHLDB2c.1861G>C (p.Glu621Gln)
c.1221G>C
c.1942G>C (p.Glu648Gln)
c.619G>C (p.Glu207Gln)
3g.111919213G=CA1393619899PHLDB2c.1861G= (p.Glu621=)
c.1221G=
c.1942G= (p.Glu648=)
c.619G= (p.Glu207=)
3g.111919213G>TCA353713969PHLDB2c.1861G>T (p.Glu621Ter)
c.1221G>T
c.1942G>T (p.Glu648Ter)
c.619G>T (p.Glu207Ter)
 dbSNP gnomAD v2 gnomAD v4
3g.111919214A>CCA353713976PHLDB2c.1862A>C (p.Glu621Ala)
c.1222A>C
c.1943A>C (p.Glu648Ala)
c.620A>C (p.Glu207Ala)
3g.111919214A>GCA353713979PHLDB2c.1862A>G (p.Glu621Gly)
c.1222A>G
c.1943A>G (p.Glu648Gly)
c.620A>G (p.Glu207Gly)
3g.111919214A>TCA353713981PHLDB2c.1862A>T (p.Glu621Val)
c.1222A>T
c.1943A>T (p.Glu648Val)
c.620A>T (p.Glu207Val)
3g.111919215G>ACA434879877PHLDB2c.1863G>A (p.Glu621=)
c.1223G>A
c.1944G>A (p.Glu648=)
c.621G>A (p.Glu207=)
 gnomAD v4
3g.111919215G>CCA353713984PHLDB2c.1863G>C (p.Glu621Asp)
c.1223G>C
c.1944G>C (p.Glu648Asp)
c.621G>C (p.Glu207Asp)
3g.111919215G>TCA353713986PHLDB2c.1863G>T (p.Glu621Asp)
c.1223G>T
c.1944G>T (p.Glu648Asp)
c.621G>T (p.Glu207Asp)
3g.111919216G>ACA353713988PHLDB2c.1863+1G>A (n.1863+1G>A)
c.1223+1G>A
c.1944+1G>A (n.1944+1G>A)
c.621+1G>A (n.621+1G>A)
 gnomAD v4
3g.111919216G>CCA353713991PHLDB2c.1863+1G>C (n.1863+1G>C)
c.1223+1G>C
c.1944+1G>C (n.1944+1G>C)
c.621+1G>C (n.621+1G>C)
3g.111919216G>TCA353713993PHLDB2c.1863+1G>T (n.1863+1G>T)
c.1223+1G>T
c.1944+1G>T (n.1944+1G>T)
c.621+1G>T (n.621+1G>T)
3g.111919217T>ACA353713996PHLDB2c.1863+2T>A (n.1863+2T>A)
c.1223+2T>A
c.1944+2T>A (n.1944+2T>A)
c.621+2T>A (n.621+2T>A)
3g.111919217T>CCA353714001PHLDB2c.1863+2T>C (n.1863+2T>C)
c.1223+2T>C
c.1944+2T>C (n.1944+2T>C)
c.621+2T>C (n.621+2T>C)
3g.111919217T>GCA353714003PHLDB2c.1863+2T>G (n.1863+2T>G)
c.1223+2T>G
c.1944+2T>G (n.1944+2T>G)
c.621+2T>G (n.621+2T>G)
3g.111919221C>GCA2577849966PHLDB2c.1863+6C>G (n.1863+6C>G)
c.1223+6C>G
c.1944+6C>G (n.1944+6C>G)
c.621+6C>G (n.621+6C>G)
3g.111919222T>CCA2535628PHLDB2c.1863+7T>C (n.1863+7T>C)
c.1223+7T>C
c.1944+7T>C (n.1944+7T>C)
c.621+7T>C (n.621+7T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.111919222T=CA1393619900PHLDB2c.1863+7T= (n.1863+7T=)
c.1223+7T=
c.1944+7T= (n.1944+7T=)
c.621+7T= (n.621+7T=)
3g.111919224T>CCA545023250PHLDB2c.1863+9T>C (n.1863+9T>C)
c.1223+9T>C
c.1944+9T>C (n.1944+9T>C)
c.621+9T>C (n.621+9T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.111919224T=CA1393619904PHLDB2c.1863+9T= (n.1863+9T=)
c.1223+9T=
c.1944+9T= (n.1944+9T=)
c.621+9T= (n.621+9T=)
3g.111919229C>TCA2577849967PHLDB2c.1863+14C>T (n.1863+14C>T)
c.1223+14C>T
c.1944+14C>T (n.1944+14C>T)
c.621+14C>T (n.621+14C>T)
3g.111919230C>ACA2666930621PHLDB2c.1863+15C>A (n.1863+15C>A)
c.1223+15C>A
c.1944+15C>A (n.1944+15C>A)
c.621+15C>A (n.621+15C>A)
 gnomAD v4
3g.111919230C=CA1393619907PHLDB2c.1863+15C= (n.1863+15C=)
c.1223+15C=
c.1944+15C= (n.1944+15C=)
c.621+15C= (n.621+15C=)
3g.111919230C>TCA897144433PHLDB2c.1863+15C>T (n.1863+15C>T)
c.1223+15C>T
c.1944+15C>T (n.1944+15C>T)
c.621+15C>T (n.621+15C>T)
 dbSNP gnomAD v3 gnomAD v4
3g.111919232C>TCA2666930622PHLDB2c.1863+17C>T (n.1863+17C>T)
c.1223+17C>T
c.1944+17C>T (n.1944+17C>T)
c.621+17C>T (n.621+17C>T)
 gnomAD v4
3g.111919233T>CCA545023251PHLDB2c.1863+18T>C (n.1863+18T>C)
c.1223+18T>C
c.1944+18T>C (n.1944+18T>C)
c.621+18T>C (n.621+18T>C)
 dbSNP gnomAD v2 gnomAD v4
3g.111919233T=CA1393619909PHLDB2c.1863+18T= (n.1863+18T=)
c.1223+18T=
c.1944+18T= (n.1944+18T=)
c.621+18T= (n.621+18T=)
3g.111919236C>ACA2757931341PHLDB2c.1863+21C>A (n.1863+21C>A)
c.1223+21C>A
c.1944+21C>A (n.1944+21C>A)
c.621+21C>A (n.621+21C>A)
3g.111919237_111919238delinsCTCA1393619915PHLDB2c.1863+22_1863+23delinsCT (n.1863+22_1863+23delinsCT)
c.1223+22_1223+23delinsCT
c.1944+22_1944+23delinsCT (n.1944+22_1944+23delinsCT)
c.621+22_621+23delinsCT (n.621+22_621+23delinsCT)
3g.111919238T>CCA2535630PHLDB2c.1863+23T>C (n.1863+23T>C)
c.1223+23T>C
c.1944+23T>C (n.1944+23T>C)
c.621+23T>C (n.621+23T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.111919238T=CA1393619929PHLDB2c.1863+23T= (n.1863+23T=)
c.1223+23T=
c.1944+23T= (n.1944+23T=)
c.621+23T= (n.621+23T=)
3g.111919243dupCA1393619924PHLDB2c.1863+28dup (n.1863+28dup)
c.1223+28dup
c.1944+28dup (n.1944+28dup)
c.621+28dup (n.621+28dup)
 dbSNP gnomAD v4
3g.111919243delCA2535629PHLDB2c.1863+28del (n.1863+28del)
c.1223+28del
c.1944+28del (n.1944+28del)
c.621+28del (n.621+28del)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.111919239T>CCA2666930623PHLDB2c.1863+24T>C (n.1863+24T>C)
c.1223+24T>C
c.1944+24T>C (n.1944+24T>C)
c.621+24T>C (n.621+24T>C)
 gnomAD v4
3g.111919241T>CCA2535631PHLDB2c.1863+26T>C (n.1863+26T>C)
c.1223+26T>C
c.1944+26T>C (n.1944+26T>C)
c.621+26T>C (n.621+26T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.111919241T=CA1393619940PHLDB2c.1863+26T= (n.1863+26T=)
c.1223+26T=
c.1944+26T= (n.1944+26T=)
c.621+26T= (n.621+26T=)
3g.111919249_111919252delCA2666930624PHLDB2c.1863+34_1863+37del (n.1863+34_1863+37del)
c.1223+34_1223+37del
c.1944+34_1944+37del (n.1944+34_1944+37del)
c.621+34_621+37del (n.621+34_621+37del)
 gnomAD v4
3g.111919244C>ACA897144442PHLDB2c.1863+29C>A (n.1863+29C>A)
c.1223+29C>A
c.1944+29C>A (n.1944+29C>A)
c.621+29C>A (n.621+29C>A)
 dbSNP
3g.111919244C=CA1393619946PHLDB2c.1863+29C= (n.1863+29C=)
c.1223+29C=
c.1944+29C= (n.1944+29C=)
c.621+29C= (n.621+29C=)
3g.111919244C>TCA1052249262PHLDB2c.1863+29C>T (n.1863+29C>T)
c.1223+29C>T
c.1944+29C>T (n.1944+29C>T)
c.621+29C>T (n.621+29C>T)
 gnomAD v3 gnomAD v4
3g.111919245T>ACA545023252PHLDB2c.1863+30T>A (n.1863+30T>A)
c.1223+30T>A
c.1944+30T>A (n.1944+30T>A)
c.621+30T>A (n.621+30T>A)
 dbSNP gnomAD v2 gnomAD v4
3g.111919245T=CA1393619950PHLDB2c.1863+30T= (n.1863+30T=)
c.1223+30T=
c.1944+30T= (n.1944+30T=)
c.621+30T= (n.621+30T=)
3g.111919246T>GCA2535632PHLDB2c.1863+31T>G (n.1863+31T>G)
c.1223+31T>G
c.1944+31T>G (n.1944+31T>G)
c.621+31T>G (n.621+31T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.111919246T=CA1393619952PHLDB2c.1863+31T= (n.1863+31T=)
c.1223+31T=
c.1944+31T= (n.1944+31T=)
c.621+31T= (n.621+31T=)
3g.111919248C=CA1393619960PHLDB2c.1863+33C= (n.1863+33C=)
c.1223+33C=
c.1944+33C= (n.1944+33C=)
c.621+33C= (n.621+33C=)
3g.111919248C>TCA545023253PHLDB2c.1863+33C>T (n.1863+33C>T)
c.1223+33C>T
c.1944+33C>T (n.1944+33C>T)
c.621+33C>T (n.621+33C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.111919252C=CA1393619967PHLDB2c.1863+37C= (n.1863+37C=)
c.1223+37C=
c.1944+37C= (n.1944+37C=)
c.621+37C= (n.621+37C=)
3g.111919252C>TCA545023254PHLDB2c.1863+37C>T (n.1863+37C>T)
c.1223+37C>T
c.1944+37C>T (n.1944+37C>T)
c.621+37C>T (n.621+37C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.111919253C>ACA2666930625PHLDB2c.1863+38C>A (n.1863+38C>A)
c.1223+38C>A
c.1944+38C>A (n.1944+38C>A)
c.621+38C>A (n.621+38C>A)
 dbSNP gnomAD v4
3g.111919253C=CA1393619972PHLDB2c.1863+38C= (n.1863+38C=)
c.1223+38C=
c.1944+38C= (n.1944+38C=)
c.621+38C= (n.621+38C=)
3g.111919253C>TCA2535633PHLDB2c.1863+38C>T (n.1863+38C>T)
c.1223+38C>T
c.1944+38C>T (n.1944+38C>T)
c.621+38C>T (n.621+38C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.111919255delCA2666930626PHLDB2c.1863+40del (n.1863+40del)
c.1223+40del
c.1944+40del (n.1944+40del)
c.621+40del (n.621+40del)
 gnomAD v4
3g.111919255T>ACA2666930627PHLDB2c.1863+40T>A (n.1863+40T>A)
c.1223+40T>A
c.1944+40T>A (n.1944+40T>A)
c.621+40T>A (n.621+40T>A)
 gnomAD v4
3g.111919256C>ACA2666930628PHLDB2c.1863+41C>A (n.1863+41C>A)
c.1223+41C>A
c.1944+41C>A (n.1944+41C>A)
c.621+41C>A (n.621+41C>A)
 gnomAD v4
3g.111919256C>TCA2703810083PHLDB2c.1863+41C>T (n.1863+41C>T)
c.1223+41C>T
c.1944+41C>T (n.1944+41C>T)
c.621+41C>T (n.621+41C>T)
 dbSNP
3g.111919258G>ACA2535634PHLDB2c.1863+43G>A (n.1863+43G>A)
c.1223+43G>A
c.1944+43G>A (n.1944+43G>A)
c.621+43G>A (n.621+43G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.111919258G=CA1393619973PHLDB2c.1863+43G= (n.1863+43G=)
c.1223+43G=
c.1944+43G= (n.1944+43G=)
c.621+43G= (n.621+43G=)
3g.111919258G>TCA2666930629PHLDB2c.1863+43G>T (n.1863+43G>T)
c.1223+43G>T
c.1944+43G>T (n.1944+43G>T)
c.621+43G>T (n.621+43G>T)
 gnomAD v4
3g.111919259C>ACA2666930630PHLDB2c.1863+44C>A (n.1863+44C>A)
c.1223+44C>A
c.1944+44C>A (n.1944+44C>A)
c.621+44C>A (n.621+44C>A)
 gnomAD v4
3g.111919259C>TCA2666930631PHLDB2c.1863+44C>T (n.1863+44C>T)
c.1223+44C>T
c.1944+44C>T (n.1944+44C>T)
c.621+44C>T (n.621+44C>T)
 gnomAD v4
3g.111919260T>CCA2535635PHLDB2c.1863+45T>C (n.1863+45T>C)
c.1223+45T>C
c.1944+45T>C (n.1944+45T>C)
c.621+45T>C (n.621+45T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.111919260T=CA1393619979PHLDB2c.1863+45T= (n.1863+45T=)
c.1223+45T=
c.1944+45T= (n.1944+45T=)
c.621+45T= (n.621+45T=)
3g.111919261T>CCA2577849968PHLDB2c.1863+46T>C (n.1863+46T>C)
c.1223+46T>C
c.1944+46T>C (n.1944+46T>C)
c.621+46T>C (n.621+46T>C)
3g.111919266A>GCA2666930632PHLDB2c.1863+51A>G (n.1863+51A>G)
c.1223+51A>G
c.1944+51A>G (n.1944+51A>G)
c.621+51A>G (n.621+51A>G)
 gnomAD v4
3g.111919266A>TCA2666930633PHLDB2c.1863+51A>T (n.1863+51A>T)
c.1223+51A>T
c.1944+51A>T (n.1944+51A>T)
c.621+51A>T (n.621+51A>T)
 gnomAD v4
3g.111919268A>GCA2666930634PHLDB2c.1863+53A>G (n.1863+53A>G)
c.1223+53A>G
c.1944+53A>G (n.1944+53A>G)
c.621+53A>G (n.621+53A>G)
 gnomAD v4
3g.111919268A>TCA2577849969PHLDB2c.1863+53A>T (n.1863+53A>T)
c.1223+53A>T
c.1944+53A>T (n.1944+53A>T)
c.621+53A>T (n.621+53A>T)
3g.111919269T>CCA2666930635PHLDB2c.1863+54T>C (n.1863+54T>C)
c.1223+54T>C
c.1944+54T>C (n.1944+54T>C)
c.621+54T>C (n.621+54T>C)
 gnomAD v4
3g.111919270T>CCA80507527PHLDB2c.1863+55T>C (n.1863+55T>C)
c.1223+55T>C
c.1944+55T>C (n.1944+55T>C)
c.621+55T>C (n.621+55T>C)
 dbSNP gnomAD v4
3g.111919270T=CA1393619985PHLDB2c.1863+55T= (n.1863+55T=)
c.1223+55T=
c.1944+55T= (n.1944+55T=)
c.621+55T= (n.621+55T=)
3g.111919271G>ACA1393619988PHLDB2c.1863+56G>A (n.1863+56G>A)
c.1223+56G>A
c.1944+56G>A (n.1944+56G>A)
c.621+56G>A (n.621+56G>A)
 dbSNP gnomAD v4
3g.111919271G=CA1393619986PHLDB2c.1863+56G= (n.1863+56G=)
c.1223+56G=
c.1944+56G= (n.1944+56G=)
c.621+56G= (n.621+56G=)
3g.111919272C>ACA2666930636PHLDB2c.1863+57C>A (n.1863+57C>A)
c.1223+57C>A
c.1944+57C>A (n.1944+57C>A)
c.621+57C>A (n.621+57C>A)
 gnomAD v4
3g.111919273T>CCA1052249270PHLDB2c.1863+58T>C (n.1863+58T>C)
c.1223+58T>C
c.1944+58T>C (n.1944+58T>C)
c.621+58T>C (n.621+58T>C)
 dbSNP gnomAD v3 gnomAD v4
3g.111919273T=CA1393619990PHLDB2c.1863+58T= (n.1863+58T=)
c.1223+58T=
c.1944+58T= (n.1944+58T=)
c.621+58T= (n.621+58T=)
3g.111919274A=CA1393619995PHLDB2c.1863+59A= (n.1863+59A=)
c.1223+59A=
c.1944+59A= (n.1944+59A=)
c.621+59A= (n.621+59A=)
3g.111919274A>CCA2666930637PHLDB2c.1863+59A>C (n.1863+59A>C)
c.1223+59A>C
c.1944+59A>C (n.1944+59A>C)
c.621+59A>C (n.621+59A>C)
 gnomAD v4
3g.111919274A>GCA80507529PHLDB2c.1863+59A>G (n.1863+59A>G)
c.1223+59A>G
c.1944+59A>G (n.1944+59A>G)
c.621+59A>G (n.621+59A>G)
 dbSNP gnomAD v3 gnomAD v4
3g.111919275C=CA1393619996PHLDB2c.1863+60C= (n.1863+60C=)
c.1223+60C=
c.1944+60C= (n.1944+60C=)
c.621+60C= (n.621+60C=)
3g.111919275C>GCA2577849970PHLDB2c.1863+60C>G (n.1863+60C>G)
c.1223+60C>G
c.1944+60C>G (n.1944+60C>G)
c.621+60C>G (n.621+60C>G)
 gnomAD v4
3g.111919275C>TCA1393619997PHLDB2c.1863+60C>T (n.1863+60C>T)
c.1223+60C>T
c.1944+60C>T (n.1944+60C>T)
c.621+60C>T (n.621+60C>T)
 dbSNP gnomAD v4
3g.111919284_111919339delCA2666930638PHLDB2c.1863+69_1863+124del (n.1863+69_1863+124del)
c.1223+69_1223+124del
c.1944+69_1944+124del (n.1944+69_1944+124del)
c.621+69_621+124del (n.621+69_621+124del)
 gnomAD v4
3g.111919280T>CCA2666930639PHLDB2c.1863+65T>C (n.1863+65T>C)
c.1223+65T>C
c.1944+65T>C (n.1944+65T>C)
c.621+65T>C (n.621+65T>C)
 gnomAD v4
3g.111919281C>ACA2666930640PHLDB2c.1863+66C>A (n.1863+66C>A)
c.1223+66C>A
c.1944+66C>A (n.1944+66C>A)
c.621+66C>A (n.621+66C>A)
 gnomAD v4
3g.111919281C>TCA2666930641PHLDB2c.1863+66C>T (n.1863+66C>T)
c.1223+66C>T
c.1944+66C>T (n.1944+66C>T)
c.621+66C>T (n.621+66C>T)
 gnomAD v4
3g.111919282A>GCA2577849971PHLDB2c.1863+67A>G (n.1863+67A>G)
c.1223+67A>G
c.1944+67A>G (n.1944+67A>G)
c.621+67A>G (n.621+67A>G)
 gnomAD v4
3g.111919283G=CA1393620000PHLDB2c.1863+68G= (n.1863+68G=)
c.1223+68G=
c.1944+68G= (n.1944+68G=)
c.621+68G= (n.621+68G=)
3g.111919283G>TCA1052249272PHLDB2c.1863+68G>T (n.1863+68G>T)
c.1223+68G>T
c.1944+68G>T (n.1944+68G>T)
c.621+68G>T (n.621+68G>T)
 dbSNP gnomAD v3 gnomAD v4
3g.111919284G>ACA2666930643PHLDB2c.1863+69G>A (n.1863+69G>A)
c.1223+69G>A
c.1944+69G>A (n.1944+69G>A)
c.621+69G>A (n.621+69G>A)
 gnomAD v4
3g.111919284G>TCA2666930642PHLDB2c.1863+69G>T (n.1863+69G>T)
c.1223+69G>T
c.1944+69G>T (n.1944+69G>T)
c.621+69G>T (n.621+69G>T)
 gnomAD v4
3g.111919285A=CA1393620001PHLDB2c.1863+70A= (n.1863+70A=)
c.1223+70A=
c.1944+70A= (n.1944+70A=)
c.621+70A= (n.621+70A=)
3g.111919285A>CCA80507533PHLDB2c.1863+70A>C (n.1863+70A>C)
c.1223+70A>C
c.1944+70A>C (n.1944+70A>C)
c.621+70A>C (n.621+70A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.111919285A>GCA2581889779PHLDB2c.1863+70A>G (n.1863+70A>G)
c.1223+70A>G
c.1944+70A>G (n.1944+70A>G)
c.621+70A>G (n.621+70A>G)
 gnomAD v4
3g.111919285A>TCA1393620002PHLDB2c.1863+70A>T (n.1863+70A>T)
c.1223+70A>T
c.1944+70A>T (n.1944+70A>T)
c.621+70A>T (n.621+70A>T)
 dbSNP

Number of alleles fetched