Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.232790724G>ACA351010817GIGYF2c.739G>A (p.Glu247Lys)
c.85G>A (p.Glu29Lys)
c.220G>A (p.Glu74Lys)
c.-6G>A (n.-6G>A)
c.232G>A (p.Glu78Lys)
c.721G>A (p.Glu241Lys)
c.805G>A (p.Glu269Lys)
c.568G>A (p.Glu190Lys)
n.852G>A
2g.232790724G>CCA351010818GIGYF2c.739G>C (p.Glu247Gln)
c.85G>C (p.Glu29Gln)
c.220G>C (p.Glu74Gln)
c.-6G>C (n.-6G>C)
c.232G>C (p.Glu78Gln)
c.721G>C (p.Glu241Gln)
c.805G>C (p.Glu269Gln)
c.568G>C (p.Glu190Gln)
n.852G>C
2g.232790724G>TCA351010819GIGYF2c.739G>T (p.Glu247Ter)
c.85G>T (p.Glu29Ter)
c.220G>T (p.Glu74Ter)
c.-6G>T (n.-6G>T)
c.232G>T (p.Glu78Ter)
c.721G>T (p.Glu241Ter)
c.805G>T (p.Glu269Ter)
c.568G>T (p.Glu190Ter)
n.852G>T
2g.232790725A=CA1335433271GIGYF2c.740A= (p.Glu247=)
c.86A= (p.Glu29=)
c.221A= (p.Glu74=)
c.-5A= (n.-5A=)
c.233A= (p.Glu78=)
c.722A= (p.Glu241=)
c.806A= (p.Glu269=)
c.569A= (p.Glu190=)
n.853A=
2g.232790725A>CCA351010820GIGYF2c.740A>C (p.Glu247Ala)
c.86A>C (p.Glu29Ala)
c.221A>C (p.Glu74Ala)
c.-5A>C (n.-5A>C)
c.233A>C (p.Glu78Ala)
c.722A>C (p.Glu241Ala)
c.806A>C (p.Glu269Ala)
c.569A>C (p.Glu190Ala)
n.853A>C
2g.232790725A>GCA351010821GIGYF2c.740A>G (p.Glu247Gly)
c.86A>G (p.Glu29Gly)
c.221A>G (p.Glu74Gly)
c.-5A>G (n.-5A>G)
c.233A>G (p.Glu78Gly)
c.722A>G (p.Glu241Gly)
c.806A>G (p.Glu269Gly)
c.569A>G (p.Glu190Gly)
n.853A>G
 dbSNP gnomAD v4
2g.232790725A>TCA2170187GIGYF2c.740A>T (p.Glu247Val)
c.86A>T (p.Glu29Val)
c.221A>T (p.Glu74Val)
c.-5A>T (n.-5A>T)
c.233A>T (p.Glu78Val)
c.722A>T (p.Glu241Val)
c.806A>T (p.Glu269Val)
c.569A>T (p.Glu190Val)
n.853A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232790726A>CCA351010822GIGYF2c.741A>C (p.Glu247Asp)
c.87A>C (p.Glu29Asp)
c.222A>C (p.Glu74Asp)
c.-4A>C (n.-4A>C)
c.234A>C (p.Glu78Asp)
c.723A>C (p.Glu241Asp)
c.807A>C (p.Glu269Asp)
c.570A>C (p.Glu190Asp)
n.854A>C
2g.232790726A>GCA431807568GIGYF2c.741A>G (p.Glu247=)
c.87A>G (p.Glu29=)
c.222A>G (p.Glu74=)
c.-4A>G (n.-4A>G)
c.234A>G (p.Glu78=)
c.723A>G (p.Glu241=)
c.807A>G (p.Glu269=)
c.570A>G (p.Glu190=)
n.854A>G
2g.232790726A>TCA351010823GIGYF2c.741A>T (p.Glu247Asp)
c.87A>T (p.Glu29Asp)
c.222A>T (p.Glu74Asp)
c.-4A>T (n.-4A>T)
c.234A>T (p.Glu78Asp)
c.723A>T (p.Glu241Asp)
c.807A>T (p.Glu269Asp)
c.570A>T (p.Glu190Asp)
n.854A>T
2g.232790727C>ACA351010824GIGYF2c.742C>A (p.His248Asn)
c.88C>A (p.His30Asn)
c.223C>A (p.His75Asn)
c.-3C>A (n.-3C>A)
c.235C>A (p.His79Asn)
c.724C>A (p.His242Asn)
c.808C>A (p.His270Asn)
c.571C>A (p.His191Asn)
n.855C>A
2g.232790727C=CA1335433272GIGYF2c.742C= (p.His248=)
c.88C= (p.His30=)
c.223C= (p.His75=)
c.-3C= (n.-3C=)
c.235C= (p.His79=)
c.724C= (p.His242=)
c.808C= (p.His270=)
c.571C= (p.His191=)
n.855C=
2g.232790727C>GCA351010825GIGYF2c.742C>G (p.His248Asp)
c.88C>G (p.His30Asp)
c.223C>G (p.His75Asp)
c.-3C>G (n.-3C>G)
c.235C>G (p.His79Asp)
c.724C>G (p.His242Asp)
c.808C>G (p.His270Asp)
c.571C>G (p.His191Asp)
n.855C>G
2g.232790727C>TCA351010826GIGYF2c.742C>T (p.His248Tyr)
c.88C>T (p.His30Tyr)
c.223C>T (p.His75Tyr)
c.-3C>T (n.-3C>T)
c.235C>T (p.His79Tyr)
c.724C>T (p.His242Tyr)
c.808C>T (p.His270Tyr)
c.571C>T (p.His191Tyr)
n.855C>T
 dbSNP gnomAD v2
2g.232790728A>CCA351010827GIGYF2c.743A>C (p.His248Pro)
c.89A>C (p.His30Pro)
c.224A>C (p.His75Pro)
c.-2A>C (n.-2A>C)
c.236A>C (p.His79Pro)
c.725A>C (p.His242Pro)
c.809A>C (p.His270Pro)
c.572A>C (p.His191Pro)
n.856A>C
2g.232790728A>GCA351010828GIGYF2c.743A>G (p.His248Arg)
c.89A>G (p.His30Arg)
c.224A>G (p.His75Arg)
c.-2A>G (n.-2A>G)
c.236A>G (p.His79Arg)
c.725A>G (p.His242Arg)
c.809A>G (p.His270Arg)
c.572A>G (p.His191Arg)
n.856A>G
2g.232790728A>TCA351010829GIGYF2c.743A>T (p.His248Leu)
c.89A>T (p.His30Leu)
c.224A>T (p.His75Leu)
c.-2A>T (n.-2A>T)
c.236A>T (p.His79Leu)
c.725A>T (p.His242Leu)
c.809A>T (p.His270Leu)
c.572A>T (p.His191Leu)
n.856A>T
2g.232790729C>ACA351010830GIGYF2c.744C>A (p.His248Gln)
c.90C>A (p.His30Gln)
c.225C>A (p.His75Gln)
c.-1C>A (n.-1C>A)
c.237C>A (p.His79Gln)
c.726C>A (p.His242Gln)
c.810C>A (p.His270Gln)
c.573C>A (p.His191Gln)
n.857C>A
2g.232790729C=CA1335433273GIGYF2c.744C= (p.His248=)
c.90C= (p.His30=)
c.225C= (p.His75=)
c.-1C= (n.-1C=)
c.237C= (p.His79=)
c.726C= (p.His242=)
c.810C= (p.His270=)
c.573C= (p.His191=)
n.857C=
2g.232790729C>GCA351010831GIGYF2c.744C>G (p.His248Gln)
c.90C>G (p.His30Gln)
c.225C>G (p.His75Gln)
c.-1C>G (n.-1C>G)
c.237C>G (p.His79Gln)
c.726C>G (p.His242Gln)
c.810C>G (p.His270Gln)
c.573C>G (p.His191Gln)
n.857C>G
2g.232790729C>TCA2170188GIGYF2c.744C>T (p.His248=)
c.90C>T (p.His30=)
c.225C>T (p.His75=)
c.-1C>T (n.-1C>T)
c.237C>T (p.His79=)
c.726C>T (p.His242=)
c.810C>T (p.His270=)
c.573C>T (p.His191=)
n.857C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232790730A>CCA351010832GIGYF2c.745A>C (p.Met249Leu)
c.91A>C (p.Met31Leu)
c.226A>C (p.Met76Leu)
c.1A>C (p.Met1Leu)
c.238A>C (p.Met80Leu)
c.727A>C (p.Met243Leu)
c.811A>C (p.Met271Leu)
c.574A>C (p.Met192Leu)
n.858A>C
2g.232790730A>GCA351010834GIGYF2c.745A>G (p.Met249Val)
c.91A>G (p.Met31Val)
c.226A>G (p.Met76Val)
c.1A>G (p.Met1Val)
c.238A>G (p.Met80Val)
c.727A>G (p.Met243Val)
c.811A>G (p.Met271Val)
c.574A>G (p.Met192Val)
n.858A>G
2g.232790730A>TCA351010833GIGYF2c.745A>T (p.Met249Leu)
c.91A>T (p.Met31Leu)
c.226A>T (p.Met76Leu)
c.1A>T (p.Met1Leu)
c.238A>T (p.Met80Leu)
c.727A>T (p.Met243Leu)
c.811A>T (p.Met271Leu)
c.574A>T (p.Met192Leu)
n.858A>T
2g.232790731T>ACA351010835GIGYF2c.746T>A (p.Met249Lys)
c.92T>A (p.Met31Lys)
c.227T>A (p.Met76Lys)
c.2T>A (p.Met1Lys)
c.239T>A (p.Met80Lys)
c.728T>A (p.Met243Lys)
c.812T>A (p.Met271Lys)
c.575T>A (p.Met192Lys)
n.859T>A
2g.232790731T>CCA351010837GIGYF2c.746T>C (p.Met249Thr)
c.92T>C (p.Met31Thr)
c.227T>C (p.Met76Thr)
c.2T>C (p.Met1Thr)
c.239T>C (p.Met80Thr)
c.728T>C (p.Met243Thr)
c.812T>C (p.Met271Thr)
c.575T>C (p.Met192Thr)
n.859T>C
 dbSNP gnomAD v2 gnomAD v4
2g.232790731T>GCA351010836GIGYF2c.746T>G (p.Met249Arg)
c.92T>G (p.Met31Arg)
c.227T>G (p.Met76Arg)
c.2T>G (p.Met1Arg)
c.239T>G (p.Met80Arg)
c.728T>G (p.Met243Arg)
c.812T>G (p.Met271Arg)
c.575T>G (p.Met192Arg)
n.859T>G
2g.232790731T=CA1335433274GIGYF2c.746T= (p.Met249=)
c.92T= (p.Met31=)
c.227T= (p.Met76=)
c.2T= (p.Met1=)
c.239T= (p.Met80=)
c.728T= (p.Met243=)
c.812T= (p.Met271=)
c.575T= (p.Met192=)
n.859T=
2g.232790732G>ACA351010838GIGYF2c.747G>A (p.Met249Ile)
c.93G>A (p.Met31Ile)
c.228G>A (p.Met76Ile)
c.3G>A (p.Met1Ile)
c.240G>A (p.Met80Ile)
c.729G>A (p.Met243Ile)
c.813G>A (p.Met271Ile)
c.576G>A (p.Met192Ile)
n.860G>A
 gnomAD v4
2g.232790732G>CCA351010839GIGYF2c.747G>C (p.Met249Ile)
c.93G>C (p.Met31Ile)
c.228G>C (p.Met76Ile)
c.3G>C (p.Met1Ile)
c.240G>C (p.Met80Ile)
c.729G>C (p.Met243Ile)
c.813G>C (p.Met271Ile)
c.576G>C (p.Met192Ile)
n.860G>C
 gnomAD v4
2g.232790732G>TCA351010840GIGYF2c.747G>T (p.Met249Ile)
c.93G>T (p.Met31Ile)
c.228G>T (p.Met76Ile)
c.3G>T (p.Met1Ile)
c.240G>T (p.Met80Ile)
c.729G>T (p.Met243Ile)
c.813G>T (p.Met271Ile)
c.576G>T (p.Met192Ile)
n.860G>T
2g.232790733G>ACA351010841GIGYF2c.748G>A (p.Glu250Lys)
c.94G>A (p.Glu32Lys)
c.229G>A (p.Glu77Lys)
c.4G>A (p.Glu2Lys)
c.241G>A (p.Glu81Lys)
c.730G>A (p.Glu244Lys)
c.814G>A (p.Glu272Lys)
c.577G>A (p.Glu193Lys)
n.861G>A
2g.232790733G>CCA351010842GIGYF2c.748G>C (p.Glu250Gln)
c.94G>C (p.Glu32Gln)
c.229G>C (p.Glu77Gln)
c.4G>C (p.Glu2Gln)
c.241G>C (p.Glu81Gln)
c.730G>C (p.Glu244Gln)
c.814G>C (p.Glu272Gln)
c.577G>C (p.Glu193Gln)
n.861G>C
2g.232790733G>TCA351010843GIGYF2c.748G>T (p.Glu250Ter)
c.94G>T (p.Glu32Ter)
c.229G>T (p.Glu77Ter)
c.4G>T (p.Glu2Ter)
c.241G>T (p.Glu81Ter)
c.730G>T (p.Glu244Ter)
c.814G>T (p.Glu272Ter)
c.577G>T (p.Glu193Ter)
n.861G>T
2g.232790734A>CCA351010844GIGYF2c.749A>C (p.Glu250Ala)
c.95A>C (p.Glu32Ala)
c.230A>C (p.Glu77Ala)
c.5A>C (p.Glu2Ala)
c.242A>C (p.Glu81Ala)
c.731A>C (p.Glu244Ala)
c.815A>C (p.Glu272Ala)
c.578A>C (p.Glu193Ala)
n.862A>C
2g.232790734A>GCA351010845GIGYF2c.749A>G (p.Glu250Gly)
c.95A>G (p.Glu32Gly)
c.230A>G (p.Glu77Gly)
c.5A>G (p.Glu2Gly)
c.242A>G (p.Glu81Gly)
c.731A>G (p.Glu244Gly)
c.815A>G (p.Glu272Gly)
c.578A>G (p.Glu193Gly)
n.862A>G
2g.232790734A>TCA351010846GIGYF2c.749A>T (p.Glu250Val)
c.95A>T (p.Glu32Val)
c.230A>T (p.Glu77Val)
c.5A>T (p.Glu2Val)
c.242A>T (p.Glu81Val)
c.731A>T (p.Glu244Val)
c.815A>T (p.Glu272Val)
c.578A>T (p.Glu193Val)
n.862A>T
2g.232790735A=CA1335433275GIGYF2c.750A= (p.Glu250=)
c.96A= (p.Glu32=)
c.231A= (p.Glu77=)
c.6A= (p.Glu2=)
c.243A= (p.Glu81=)
c.732A= (p.Glu244=)
c.816A= (p.Glu272=)
c.579A= (p.Glu193=)
n.863A=
2g.232790735A>CCA351010847GIGYF2c.750A>C (p.Glu250Asp)
c.96A>C (p.Glu32Asp)
c.231A>C (p.Glu77Asp)
c.6A>C (p.Glu2Asp)
c.243A>C (p.Glu81Asp)
c.732A>C (p.Glu244Asp)
c.816A>C (p.Glu272Asp)
c.579A>C (p.Glu193Asp)
n.863A>C
 dbSNP gnomAD v3 gnomAD v4
2g.232790735A>GCA431807595GIGYF2c.750A>G (p.Glu250=)
c.96A>G (p.Glu32=)
c.231A>G (p.Glu77=)
c.6A>G (p.Glu2=)
c.243A>G (p.Glu81=)
c.732A>G (p.Glu244=)
c.816A>G (p.Glu272=)
c.579A>G (p.Glu193=)
n.863A>G
2g.232790735A>TCA351010848GIGYF2c.750A>T (p.Glu250Asp)
c.96A>T (p.Glu32Asp)
c.231A>T (p.Glu77Asp)
c.6A>T (p.Glu2Asp)
c.243A>T (p.Glu81Asp)
c.732A>T (p.Glu244Asp)
c.816A>T (p.Glu272Asp)
c.579A>T (p.Glu193Asp)
n.863A>T
2g.232790736C>ACA431807597GIGYF2c.751C>A (p.Arg251=)
c.97C>A (p.Arg33=)
c.232C>A (p.Arg78=)
c.7C>A (p.Arg3=)
c.244C>A (p.Arg82=)
c.733C>A (p.Arg245=)
c.817C>A (p.Arg273=)
c.580C>A (p.Arg194=)
n.864C>A
2g.232790736C=CA1335433276GIGYF2c.751C= (p.Arg251=)
c.97C= (p.Arg33=)
c.232C= (p.Arg78=)
c.7C= (p.Arg3=)
c.244C= (p.Arg82=)
c.733C= (p.Arg245=)
c.817C= (p.Arg273=)
c.580C= (p.Arg194=)
n.864C=
2g.232790736C>GCA351010849GIGYF2c.751C>G (p.Arg251Gly)
c.97C>G (p.Arg33Gly)
c.232C>G (p.Arg78Gly)
c.7C>G (p.Arg3Gly)
c.244C>G (p.Arg82Gly)
c.733C>G (p.Arg245Gly)
c.817C>G (p.Arg273Gly)
c.580C>G (p.Arg194Gly)
n.864C>G
2g.232790736C>TCA66994371GIGYF2c.751C>T (p.Arg251Ter)
c.97C>T (p.Arg33Ter)
c.232C>T (p.Arg78Ter)
c.7C>T (p.Arg3Ter)
c.244C>T (p.Arg82Ter)
c.733C>T (p.Arg245Ter)
c.817C>T (p.Arg273Ter)
c.580C>T (p.Arg194Ter)
n.864C>T
 dbSNP COSMIC COSMIC COSMIC
2g.232790737G>ACA351010850GIGYF2c.752G>A (p.Arg251Gln)
c.98G>A (p.Arg33Gln)
c.233G>A (p.Arg78Gln)
c.8G>A (p.Arg3Gln)
c.245G>A (p.Arg82Gln)
c.734G>A (p.Arg245Gln)
c.818G>A (p.Arg273Gln)
c.581G>A (p.Arg194Gln)
n.865G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232790737G>CCA351010852GIGYF2c.752G>C (p.Arg251Pro)
c.98G>C (p.Arg33Pro)
c.233G>C (p.Arg78Pro)
c.8G>C (p.Arg3Pro)
c.245G>C (p.Arg82Pro)
c.734G>C (p.Arg245Pro)
c.818G>C (p.Arg273Pro)
c.581G>C (p.Arg194Pro)
n.865G>C
2g.232790737G=CA1335433277GIGYF2c.752G= (p.Arg251=)
c.98G= (p.Arg33=)
c.233G= (p.Arg78=)
c.8G= (p.Arg3=)
c.245G= (p.Arg82=)
c.734G= (p.Arg245=)
c.818G= (p.Arg273=)
c.581G= (p.Arg194=)
n.865G=
2g.232790737G>TCA351010851GIGYF2c.752G>T (p.Arg251Leu)
c.98G>T (p.Arg33Leu)
c.233G>T (p.Arg78Leu)
c.8G>T (p.Arg3Leu)
c.245G>T (p.Arg82Leu)
c.734G>T (p.Arg245Leu)
c.818G>T (p.Arg273Leu)
c.581G>T (p.Arg194Leu)
n.865G>T
2g.232790738A=CA1335433278GIGYF2c.753A= (p.Arg251=)
c.99A= (p.Arg33=)
c.234A= (p.Arg78=)
c.9A= (p.Arg3=)
c.246A= (p.Arg82=)
c.735A= (p.Arg245=)
c.819A= (p.Arg273=)
c.582A= (p.Arg194=)
n.866A=
2g.232790738A>CCA431807605GIGYF2c.753A>C (p.Arg251=)
c.99A>C (p.Arg33=)
c.234A>C (p.Arg78=)
c.9A>C (p.Arg3=)
c.246A>C (p.Arg82=)
c.735A>C (p.Arg245=)
c.819A>C (p.Arg273=)
c.582A>C (p.Arg194=)
n.866A>C
 dbSNP gnomAD v3 gnomAD v4
2g.232790738A>GCA431807604GIGYF2c.753A>G (p.Arg251=)
c.99A>G (p.Arg33=)
c.234A>G (p.Arg78=)
c.9A>G (p.Arg3=)
c.246A>G (p.Arg82=)
c.735A>G (p.Arg245=)
c.819A>G (p.Arg273=)
c.582A>G (p.Arg194=)
n.866A>G
2g.232790738A>TCA431807602GIGYF2c.753A>T (p.Arg251=)
c.99A>T (p.Arg33=)
c.234A>T (p.Arg78=)
c.9A>T (p.Arg3=)
c.246A>T (p.Arg82=)
c.735A>T (p.Arg245=)
c.819A>T (p.Arg273=)
c.582A>T (p.Arg194=)
n.866A>T
 dbSNP gnomAD v2 gnomAD v4
2g.232790739C>ACA351010853GIGYF2c.754C>A (p.Arg252Ser)
c.100C>A (p.Arg34Ser)
c.235C>A (p.Arg79Ser)
c.10C>A (p.Arg4Ser)
c.247C>A (p.Arg83Ser)
c.736C>A (p.Arg246Ser)
c.820C>A (p.Arg274Ser)
c.583C>A (p.Arg195Ser)
n.867C>A
2g.232790739C=CA1335433279GIGYF2c.754C= (p.Arg252=)
c.100C= (p.Arg34=)
c.235C= (p.Arg79=)
c.10C= (p.Arg4=)
c.247C= (p.Arg83=)
c.736C= (p.Arg246=)
c.820C= (p.Arg274=)
c.583C= (p.Arg195=)
n.867C=
2g.232790739C>GCA351010854GIGYF2c.754C>G (p.Arg252Gly)
c.100C>G (p.Arg34Gly)
c.235C>G (p.Arg79Gly)
c.10C>G (p.Arg4Gly)
c.247C>G (p.Arg83Gly)
c.736C>G (p.Arg246Gly)
c.820C>G (p.Arg274Gly)
c.583C>G (p.Arg195Gly)
n.867C>G
2g.232790739C>TCA2170189GIGYF2c.754C>T (p.Arg252Cys)
c.100C>T (p.Arg34Cys)
c.235C>T (p.Arg79Cys)
c.10C>T (p.Arg4Cys)
c.247C>T (p.Arg83Cys)
c.736C>T (p.Arg246Cys)
c.820C>T (p.Arg274Cys)
c.583C>T (p.Arg195Cys)
n.867C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232790740G>ACA351010855GIGYF2c.755G>A (p.Arg252His)
c.101G>A (p.Arg34His)
c.236G>A (p.Arg79His)
c.11G>A (p.Arg4His)
c.248G>A (p.Arg83His)
c.737G>A (p.Arg246His)
c.821G>A (p.Arg274His)
c.584G>A (p.Arg195His)
n.868G>A
 dbSNP gnomAD v2 gnomAD v4
2g.232790740G>CCA351010856GIGYF2c.755G>C (p.Arg252Pro)
c.101G>C (p.Arg34Pro)
c.236G>C (p.Arg79Pro)
c.11G>C (p.Arg4Pro)
c.248G>C (p.Arg83Pro)
c.737G>C (p.Arg246Pro)
c.821G>C (p.Arg274Pro)
c.584G>C (p.Arg195Pro)
n.868G>C
2g.232790740G=CA1335433280GIGYF2c.755G= (p.Arg252=)
c.101G= (p.Arg34=)
c.236G= (p.Arg79=)
c.11G= (p.Arg4=)
c.248G= (p.Arg83=)
c.737G= (p.Arg246=)
c.821G= (p.Arg274=)
c.584G= (p.Arg195=)
n.868G=
2g.232790740G>TCA351010857GIGYF2c.755G>T (p.Arg252Leu)
c.101G>T (p.Arg34Leu)
c.236G>T (p.Arg79Leu)
c.11G>T (p.Arg4Leu)
c.248G>T (p.Arg83Leu)
c.737G>T (p.Arg246Leu)
c.821G>T (p.Arg274Leu)
c.584G>T (p.Arg195Leu)
n.868G>T
 COSMIC COSMIC COSMIC
2g.232790741T>ACA431807607GIGYF2c.756T>A (p.Arg252=)
c.102T>A (p.Arg34=)
c.237T>A (p.Arg79=)
c.12T>A (p.Arg4=)
c.249T>A (p.Arg83=)
c.738T>A (p.Arg246=)
c.822T>A (p.Arg274=)
c.585T>A (p.Arg195=)
n.869T>A
2g.232790741T>CCA431807609GIGYF2c.756T>C (p.Arg252=)
c.102T>C (p.Arg34=)
c.237T>C (p.Arg79=)
c.12T>C (p.Arg4=)
c.249T>C (p.Arg83=)
c.738T>C (p.Arg246=)
c.822T>C (p.Arg274=)
c.585T>C (p.Arg195=)
n.869T>C
 COSMIC COSMIC COSMIC
2g.232790741T>GCA431807610GIGYF2c.756T>G (p.Arg252=)
c.102T>G (p.Arg34=)
c.237T>G (p.Arg79=)
c.12T>G (p.Arg4=)
c.249T>G (p.Arg83=)
c.738T>G (p.Arg246=)
c.822T>G (p.Arg274=)
c.585T>G (p.Arg195=)
n.869T>G
2g.232790742C>ACA431807613GIGYF2c.757C>A (p.Arg253=)
c.103C>A (p.Arg35=)
c.238C>A (p.Arg80=)
c.13C>A (p.Arg5=)
c.250C>A (p.Arg84=)
c.739C>A (p.Arg247=)
c.823C>A (p.Arg275=)
c.586C>A (p.Arg196=)
n.870C>A
2g.232790742C=CA1335433281GIGYF2c.757C= (p.Arg253=)
c.103C= (p.Arg35=)
c.238C= (p.Arg80=)
c.13C= (p.Arg5=)
c.250C= (p.Arg84=)
c.739C= (p.Arg247=)
c.823C= (p.Arg275=)
c.586C= (p.Arg196=)
n.870C=
2g.232790742C>GCA351010858GIGYF2c.757C>G (p.Arg253Gly)
c.103C>G (p.Arg35Gly)
c.238C>G (p.Arg80Gly)
c.13C>G (p.Arg5Gly)
c.250C>G (p.Arg84Gly)
c.739C>G (p.Arg247Gly)
c.823C>G (p.Arg275Gly)
c.586C>G (p.Arg196Gly)
n.870C>G
2g.232790742C>TCA2170190GIGYF2c.757C>T (p.Arg253Trp)
c.103C>T (p.Arg35Trp)
c.238C>T (p.Arg80Trp)
c.13C>T (p.Arg5Trp)
c.250C>T (p.Arg84Trp)
c.739C>T (p.Arg247Trp)
c.823C>T (p.Arg275Trp)
c.586C>T (p.Arg196Trp)
n.870C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232790743G>ACA2170191GIGYF2c.758G>A (p.Arg253Gln)
c.104G>A (p.Arg35Gln)
c.239G>A (p.Arg80Gln)
c.14G>A (p.Arg5Gln)
c.251G>A (p.Arg84Gln)
c.740G>A (p.Arg247Gln)
c.824G>A (p.Arg275Gln)
c.587G>A (p.Arg196Gln)
n.871G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
2g.232790743G>CCA351010859GIGYF2c.758G>C (p.Arg253Pro)
c.104G>C (p.Arg35Pro)
c.239G>C (p.Arg80Pro)
c.14G>C (p.Arg5Pro)
c.251G>C (p.Arg84Pro)
c.740G>C (p.Arg247Pro)
c.824G>C (p.Arg275Pro)
c.587G>C (p.Arg196Pro)
n.871G>C
2g.232790743G=CA1335433282GIGYF2c.758G= (p.Arg253=)
c.104G= (p.Arg35=)
c.239G= (p.Arg80=)
c.14G= (p.Arg5=)
c.251G= (p.Arg84=)
c.740G= (p.Arg247=)
c.824G= (p.Arg275=)
c.587G= (p.Arg196=)
n.871G=
2g.232790743G>TCA351010860GIGYF2c.758G>T (p.Arg253Leu)
c.104G>T (p.Arg35Leu)
c.239G>T (p.Arg80Leu)
c.14G>T (p.Arg5Leu)
c.251G>T (p.Arg84Leu)
c.740G>T (p.Arg247Leu)
c.824G>T (p.Arg275Leu)
c.587G>T (p.Arg196Leu)
n.871G>T
2g.232790744G>ACA431807624GIGYF2c.759G>A (p.Arg253=)
c.105G>A (p.Arg35=)
c.240G>A (p.Arg80=)
c.15G>A (p.Arg5=)
c.252G>A (p.Arg84=)
c.741G>A (p.Arg247=)
c.825G>A (p.Arg275=)
c.588G>A (p.Arg196=)
n.872G>A
2g.232790744G>CCA431807626GIGYF2c.759G>C (p.Arg253=)
c.105G>C (p.Arg35=)
c.240G>C (p.Arg80=)
c.15G>C (p.Arg5=)
c.252G>C (p.Arg84=)
c.741G>C (p.Arg247=)
c.825G>C (p.Arg275=)
c.588G>C (p.Arg196=)
n.872G>C
2g.232790744G>TCA431807628GIGYF2c.759G>T (p.Arg253=)
c.105G>T (p.Arg35=)
c.240G>T (p.Arg80=)
c.15G>T (p.Arg5=)
c.252G>T (p.Arg84=)
c.741G>T (p.Arg247=)
c.825G>T (p.Arg275=)
c.588G>T (p.Arg196=)
n.872G>T
2g.232790745A>CCA431807629GIGYF2c.760A>C (p.Arg254=)
c.106A>C (p.Arg36=)
c.241A>C (p.Arg81=)
c.16A>C (p.Arg6=)
c.253A>C (p.Arg85=)
c.742A>C (p.Arg248=)
c.826A>C (p.Arg276=)
c.589A>C (p.Arg197=)
c.106A>C (p.Ser36Arg)
n.873A>C
2g.232790745A>GCA351010862GIGYF2c.760A>G (p.Arg254Gly)
c.106A>G (p.Arg36Gly)
c.241A>G (p.Arg81Gly)
c.16A>G (p.Arg6Gly)
c.253A>G (p.Arg85Gly)
c.742A>G (p.Arg248Gly)
c.826A>G (p.Arg276Gly)
c.589A>G (p.Arg197Gly)
c.106A>G (p.Ser36Gly)
n.873A>G
2g.232790745A>TCA351010861GIGYF2c.760A>T (p.Arg254Trp)
c.106A>T (p.Arg36Trp)
c.241A>T (p.Arg81Trp)
c.16A>T (p.Arg6Trp)
c.253A>T (p.Arg85Trp)
c.742A>T (p.Arg248Trp)
c.826A>T (p.Arg276Trp)
c.589A>T (p.Arg197Trp)
c.106A>T (p.Ser36Cys)
n.873A>T
2g.232790746G>ACA351010863GIGYF2c.761G>A (p.Arg254Lys)
c.107G>A (p.Arg36Lys)
c.242G>A (p.Arg81Lys)
c.17G>A (p.Arg6Lys)
c.254G>A (p.Arg85Lys)
c.743G>A (p.Arg248Lys)
c.827G>A (p.Arg276Lys)
c.590G>A (p.Arg197Lys)
c.107G>A (p.Ser36Asn)
n.874G>A
 gnomAD v4
2g.232790746G>CCA351010864GIGYF2c.761G>C (p.Arg254Thr)
c.107G>C (p.Arg36Thr)
c.242G>C (p.Arg81Thr)
c.17G>C (p.Arg6Thr)
c.254G>C (p.Arg85Thr)
c.743G>C (p.Arg248Thr)
c.827G>C (p.Arg276Thr)
c.590G>C (p.Arg197Thr)
c.107G>C (p.Ser36Thr)
n.874G>C
2g.232790746G>TCA351010865GIGYF2c.761G>T (p.Arg254Met)
c.107G>T (p.Arg36Met)
c.242G>T (p.Arg81Met)
c.17G>T (p.Arg6Met)
c.254G>T (p.Arg85Met)
c.743G>T (p.Arg248Met)
c.827G>T (p.Arg276Met)
c.590G>T (p.Arg197Met)
c.107G>T (p.Ser36Ile)
n.874G>T
2g.232790747G>ACA431807634GIGYF2c.762G>A (p.Arg254=)
c.108G>A (p.Arg36=)
c.243G>A (p.Arg81=)
c.18G>A (p.Arg6=)
c.255G>A (p.Arg85=)
c.744G>A (p.Arg248=)
c.828G>A (p.Arg276=)
c.591G>A (p.Arg197=)
c.107+1G>A (n.107+1G>A)
n.875G>A
2g.232790747G>CCA351010866GIGYF2c.762G>C (p.Arg254Ser)
c.108G>C (p.Arg36Ser)
c.243G>C (p.Arg81Ser)
c.18G>C (p.Arg6Ser)
c.255G>C (p.Arg85Ser)
c.744G>C (p.Arg248Ser)
c.828G>C (p.Arg276Ser)
c.591G>C (p.Arg197Ser)
c.107+1G>C (n.107+1G>C)
n.875G>C
2g.232790747G>TCA351010867GIGYF2c.762G>T (p.Arg254Ser)
c.108G>T (p.Arg36Ser)
c.243G>T (p.Arg81Ser)
c.18G>T (p.Arg6Ser)
c.255G>T (p.Arg85Ser)
c.744G>T (p.Arg248Ser)
c.828G>T (p.Arg276Ser)
c.591G>T (p.Arg197Ser)
c.107+1G>T (n.107+1G>T)
n.875G>T
 gnomAD v4
2g.232790753_232790758dupCA2663643163GIGYF2c.768_773dup (p.Phe257_Asp258insGluPhe)
c.114_119dup (p.Phe39_Asp40insGluPhe)
c.249_254dup (p.Phe84_Asp85insGluPhe)
c.24_29dup (p.Phe9_Asp10insGluPhe)
c.261_266dup (p.Phe88_Asp89insGluPhe)
c.750_755dup (p.Phe251_Asp252insGluPhe)
c.834_839dup (p.Phe279_Asp280insGluPhe)
c.597_602dup (p.Phe200_Asp201insGluPhe)
c.107+7_107+12dup (n.107+7_107+12dup)
n.881_886dup
 gnomAD v4
2g.232790748T>ACA351010868GIGYF2c.763T>A (p.Phe255Ile)
c.109T>A (p.Phe37Ile)
c.244T>A (p.Phe82Ile)
c.19T>A (p.Phe7Ile)
c.256T>A (p.Phe86Ile)
c.745T>A (p.Phe249Ile)
c.829T>A (p.Phe277Ile)
c.592T>A (p.Phe198Ile)
c.107+2T>A (n.107+2T>A)
n.876T>A
 dbSNP gnomAD v4
2g.232790748T>CCA351010869GIGYF2c.763T>C (p.Phe255Leu)
c.109T>C (p.Phe37Leu)
c.244T>C (p.Phe82Leu)
c.19T>C (p.Phe7Leu)
c.256T>C (p.Phe86Leu)
c.745T>C (p.Phe249Leu)
c.829T>C (p.Phe277Leu)
c.592T>C (p.Phe198Leu)
c.107+2T>C (n.107+2T>C)
n.876T>C
 gnomAD v4
2g.232790748T>GCA351010870GIGYF2c.763T>G (p.Phe255Val)
c.109T>G (p.Phe37Val)
c.244T>G (p.Phe82Val)
c.19T>G (p.Phe7Val)
c.256T>G (p.Phe86Val)
c.745T>G (p.Phe249Val)
c.829T>G (p.Phe277Val)
c.592T>G (p.Phe198Val)
c.107+2T>G (n.107+2T>G)
n.876T>G
 dbSNP
2g.232790748T=CA1335433283GIGYF2c.763T= (p.Phe255=)
c.109T= (p.Phe37=)
c.244T= (p.Phe82=)
c.19T= (p.Phe7=)
c.256T= (p.Phe86=)
c.745T= (p.Phe249=)
c.829T= (p.Phe277=)
c.592T= (p.Phe198=)
c.107+2T= (n.107+2T=)
n.876T=
2g.232790749T>ACA351010871GIGYF2c.764T>A (p.Phe255Tyr)
c.110T>A (p.Phe37Tyr)
c.245T>A (p.Phe82Tyr)
c.20T>A (p.Phe7Tyr)
c.257T>A (p.Phe86Tyr)
c.746T>A (p.Phe249Tyr)
c.830T>A (p.Phe277Tyr)
c.593T>A (p.Phe198Tyr)
c.107+3T>A (n.107+3T>A)
n.877T>A
 gnomAD v4
2g.232790749T>CCA351010872GIGYF2c.764T>C (p.Phe255Ser)
c.110T>C (p.Phe37Ser)
c.245T>C (p.Phe82Ser)
c.20T>C (p.Phe7Ser)
c.257T>C (p.Phe86Ser)
c.746T>C (p.Phe249Ser)
c.830T>C (p.Phe277Ser)
c.593T>C (p.Phe198Ser)
c.107+3T>C (n.107+3T>C)
n.877T>C
2g.232790749T>GCA351010873GIGYF2c.764T>G (p.Phe255Cys)
c.110T>G (p.Phe37Cys)
c.245T>G (p.Phe82Cys)
c.20T>G (p.Phe7Cys)
c.257T>G (p.Phe86Cys)
c.746T>G (p.Phe249Cys)
c.830T>G (p.Phe277Cys)
c.593T>G (p.Phe198Cys)
c.107+3T>G (n.107+3T>G)
n.877T>G
 dbSNP
2g.232790749T=CA1335433284GIGYF2c.764T= (p.Phe255=)
c.110T= (p.Phe37=)
c.245T= (p.Phe82=)
c.20T= (p.Phe7=)
c.257T= (p.Phe86=)
c.746T= (p.Phe249=)
c.830T= (p.Phe277=)
c.593T= (p.Phe198=)
c.107+3T= (n.107+3T=)
n.877T=
2g.232790750T>ACA351010874GIGYF2c.765T>A (p.Phe255Leu)
c.111T>A (p.Phe37Leu)
c.246T>A (p.Phe82Leu)
c.21T>A (p.Phe7Leu)
c.258T>A (p.Phe86Leu)
c.747T>A (p.Phe249Leu)
c.831T>A (p.Phe277Leu)
c.594T>A (p.Phe198Leu)
c.107+4T>A (n.107+4T>A)
n.878T>A
2g.232790750T>CCA431807644GIGYF2c.765T>C (p.Phe255=)
c.111T>C (p.Phe37=)
c.246T>C (p.Phe82=)
c.21T>C (p.Phe7=)
c.258T>C (p.Phe86=)
c.747T>C (p.Phe249=)
c.831T>C (p.Phe277=)
c.594T>C (p.Phe198=)
c.107+4T>C (n.107+4T>C)
n.878T>C
 dbSNP gnomAD v4
2g.232790750T>GCA351010875GIGYF2c.765T>G (p.Phe255Leu)
c.111T>G (p.Phe37Leu)
c.246T>G (p.Phe82Leu)
c.21T>G (p.Phe7Leu)
c.258T>G (p.Phe86Leu)
c.747T>G (p.Phe249Leu)
c.831T>G (p.Phe277Leu)
c.594T>G (p.Phe198Leu)
c.107+4T>G (n.107+4T>G)
n.878T>G
2g.232790751G>ACA351010878GIGYF2c.766G>A (p.Glu256Lys)
c.112G>A (p.Glu38Lys)
c.247G>A (p.Glu83Lys)
c.22G>A (p.Glu8Lys)
c.259G>A (p.Glu87Lys)
c.748G>A (p.Glu250Lys)
c.832G>A (p.Glu278Lys)
c.595G>A (p.Glu199Lys)
c.107+5G>A (n.107+5G>A)
n.879G>A
2g.232790751G>CCA351010877GIGYF2c.766G>C (p.Glu256Gln)
c.112G>C (p.Glu38Gln)
c.247G>C (p.Glu83Gln)
c.22G>C (p.Glu8Gln)
c.259G>C (p.Glu87Gln)
c.748G>C (p.Glu250Gln)
c.832G>C (p.Glu278Gln)
c.595G>C (p.Glu199Gln)
c.107+5G>C (n.107+5G>C)
n.879G>C
 dbSNP
2g.232790751G=CA1335433285GIGYF2c.766G= (p.Glu256=)
c.112G= (p.Glu38=)
c.247G= (p.Glu83=)
c.22G= (p.Glu8=)
c.259G= (p.Glu87=)
c.748G= (p.Glu250=)
c.832G= (p.Glu278=)
c.595G= (p.Glu199=)
c.107+5G= (n.107+5G=)
n.879G=
2g.232790751G>TCA351010876GIGYF2c.766G>T (p.Glu256Ter)
c.112G>T (p.Glu38Ter)
c.247G>T (p.Glu83Ter)
c.22G>T (p.Glu8Ter)
c.259G>T (p.Glu87Ter)
c.748G>T (p.Glu250Ter)
c.832G>T (p.Glu278Ter)
c.595G>T (p.Glu199Ter)
c.107+5G>T (n.107+5G>T)
n.879G>T
2g.232790752A>CCA351010879GIGYF2c.767A>C (p.Glu256Ala)
c.113A>C (p.Glu38Ala)
c.248A>C (p.Glu83Ala)
c.23A>C (p.Glu8Ala)
c.260A>C (p.Glu87Ala)
c.749A>C (p.Glu250Ala)
c.833A>C (p.Glu278Ala)
c.596A>C (p.Glu199Ala)
c.107+6A>C (n.107+6A>C)
n.880A>C
2g.232790752A>GCA351010880GIGYF2c.767A>G (p.Glu256Gly)
c.113A>G (p.Glu38Gly)
c.248A>G (p.Glu83Gly)
c.23A>G (p.Glu8Gly)
c.260A>G (p.Glu87Gly)
c.749A>G (p.Glu250Gly)
c.833A>G (p.Glu278Gly)
c.596A>G (p.Glu199Gly)
c.107+6A>G (n.107+6A>G)
n.880A>G
2g.232790752A>TCA351010881GIGYF2c.767A>T (p.Glu256Val)
c.113A>T (p.Glu38Val)
c.248A>T (p.Glu83Val)
c.23A>T (p.Glu8Val)
c.260A>T (p.Glu87Val)
c.749A>T (p.Glu250Val)
c.833A>T (p.Glu278Val)
c.596A>T (p.Glu199Val)
c.107+6A>T (n.107+6A>T)
n.880A>T
2g.232790753G>ACA431807651GIGYF2c.768G>A (p.Glu256=)
c.114G>A (p.Glu38=)
c.249G>A (p.Glu83=)
c.24G>A (p.Glu8=)
c.261G>A (p.Glu87=)
c.750G>A (p.Glu250=)
c.834G>A (p.Glu278=)
c.597G>A (p.Glu199=)
c.107+7G>A (n.107+7G>A)
n.881G>A
 dbSNP
2g.232790753G>CCA351010882GIGYF2c.768G>C (p.Glu256Asp)
c.114G>C (p.Glu38Asp)
c.249G>C (p.Glu83Asp)
c.24G>C (p.Glu8Asp)
c.261G>C (p.Glu87Asp)
c.750G>C (p.Glu250Asp)
c.834G>C (p.Glu278Asp)
c.597G>C (p.Glu199Asp)
c.107+7G>C (n.107+7G>C)
n.881G>C
2g.232790753G=CA1335433286GIGYF2c.768G= (p.Glu256=)
c.114G= (p.Glu38=)
c.249G= (p.Glu83=)
c.24G= (p.Glu8=)
c.261G= (p.Glu87=)
c.750G= (p.Glu250=)
c.834G= (p.Glu278=)
c.597G= (p.Glu199=)
c.107+7G= (n.107+7G=)
n.881G=
2g.232790753G>TCA351010883GIGYF2c.768G>T (p.Glu256Asp)
c.114G>T (p.Glu38Asp)
c.249G>T (p.Glu83Asp)
c.24G>T (p.Glu8Asp)
c.261G>T (p.Glu87Asp)
c.750G>T (p.Glu250Asp)
c.834G>T (p.Glu278Asp)
c.597G>T (p.Glu199Asp)
c.107+7G>T (n.107+7G>T)
n.881G>T
2g.232790754T>ACA351010884GIGYF2c.769T>A (p.Phe257Ile)
c.115T>A (p.Phe39Ile)
c.250T>A (p.Phe84Ile)
c.25T>A (p.Phe9Ile)
c.262T>A (p.Phe88Ile)
c.751T>A (p.Phe251Ile)
c.835T>A (p.Phe279Ile)
c.598T>A (p.Phe200Ile)
c.107+8T>A (n.107+8T>A)
n.882T>A
2g.232790754T>CCA351010885GIGYF2c.769T>C (p.Phe257Leu)
c.115T>C (p.Phe39Leu)
c.250T>C (p.Phe84Leu)
c.25T>C (p.Phe9Leu)
c.262T>C (p.Phe88Leu)
c.751T>C (p.Phe251Leu)
c.835T>C (p.Phe279Leu)
c.598T>C (p.Phe200Leu)
c.107+8T>C (n.107+8T>C)
n.882T>C
2g.232790754T>GCA351010886GIGYF2c.769T>G (p.Phe257Val)
c.115T>G (p.Phe39Val)
c.250T>G (p.Phe84Val)
c.25T>G (p.Phe9Val)
c.262T>G (p.Phe88Val)
c.751T>G (p.Phe251Val)
c.835T>G (p.Phe279Val)
c.598T>G (p.Phe200Val)
c.107+8T>G (n.107+8T>G)
n.882T>G
 dbSNP
2g.232790754T=CA1335433287GIGYF2c.769T= (p.Phe257=)
c.115T= (p.Phe39=)
c.250T= (p.Phe84=)
c.25T= (p.Phe9=)
c.262T= (p.Phe88=)
c.751T= (p.Phe251=)
c.835T= (p.Phe279=)
c.598T= (p.Phe200=)
c.107+8T= (n.107+8T=)
n.882T=
2g.232790755T>ACA351010887GIGYF2c.770T>A (p.Phe257Tyr)
c.116T>A (p.Phe39Tyr)
c.251T>A (p.Phe84Tyr)
c.26T>A (p.Phe9Tyr)
c.263T>A (p.Phe88Tyr)
c.752T>A (p.Phe251Tyr)
c.836T>A (p.Phe279Tyr)
c.599T>A (p.Phe200Tyr)
c.107+9T>A (n.107+9T>A)
n.883T>A
2g.232790755T>CCA351010888GIGYF2c.770T>C (p.Phe257Ser)
c.116T>C (p.Phe39Ser)
c.251T>C (p.Phe84Ser)
c.26T>C (p.Phe9Ser)
c.263T>C (p.Phe88Ser)
c.752T>C (p.Phe251Ser)
c.836T>C (p.Phe279Ser)
c.599T>C (p.Phe200Ser)
c.107+9T>C (n.107+9T>C)
n.883T>C
2g.232790755T>GCA351010889GIGYF2c.770T>G (p.Phe257Cys)
c.116T>G (p.Phe39Cys)
c.251T>G (p.Phe84Cys)
c.26T>G (p.Phe9Cys)
c.263T>G (p.Phe88Cys)
c.752T>G (p.Phe251Cys)
c.836T>G (p.Phe279Cys)
c.599T>G (p.Phe200Cys)
c.107+9T>G (n.107+9T>G)
n.883T>G
2g.232790756T>ACA351010890GIGYF2c.771T>A (p.Phe257Leu)
c.117T>A (p.Phe39Leu)
c.252T>A (p.Phe84Leu)
c.27T>A (p.Phe9Leu)
c.264T>A (p.Phe88Leu)
c.753T>A (p.Phe251Leu)
c.837T>A (p.Phe279Leu)
c.600T>A (p.Phe200Leu)
c.107+10T>A (n.107+10T>A)
n.884T>A
2g.232790756T>CCA431807660GIGYF2c.771T>C (p.Phe257=)
c.117T>C (p.Phe39=)
c.252T>C (p.Phe84=)
c.27T>C (p.Phe9=)
c.264T>C (p.Phe88=)
c.753T>C (p.Phe251=)
c.837T>C (p.Phe279=)
c.600T>C (p.Phe200=)
c.107+10T>C (n.107+10T>C)
n.884T>C
2g.232790756T>GCA351010891GIGYF2c.771T>G (p.Phe257Leu)
c.117T>G (p.Phe39Leu)
c.252T>G (p.Phe84Leu)
c.27T>G (p.Phe9Leu)
c.264T>G (p.Phe88Leu)
c.753T>G (p.Phe251Leu)
c.837T>G (p.Phe279Leu)
c.600T>G (p.Phe200Leu)
c.107+10T>G (n.107+10T>G)
n.884T>G
 dbSNP
2g.232790756T=CA1335433288GIGYF2c.771T= (p.Phe257=)
c.117T= (p.Phe39=)
c.252T= (p.Phe84=)
c.27T= (p.Phe9=)
c.264T= (p.Phe88=)
c.753T= (p.Phe251=)
c.837T= (p.Phe279=)
c.600T= (p.Phe200=)
c.107+10T= (n.107+10T=)
n.884T=
2g.232790757G>ACA351010893GIGYF2c.772G>A (p.Asp258Asn)
c.118G>A (p.Asp40Asn)
c.253G>A (p.Asp85Asn)
c.28G>A (p.Asp10Asn)
c.265G>A (p.Asp89Asn)
c.754G>A (p.Asp252Asn)
c.838G>A (p.Asp280Asn)
c.601G>A (p.Asp201Asn)
c.107+11G>A (n.107+11G>A)
n.885G>A
2g.232790757G>CCA351010894GIGYF2c.772G>C (p.Asp258His)
c.118G>C (p.Asp40His)
c.253G>C (p.Asp85His)
c.28G>C (p.Asp10His)
c.265G>C (p.Asp89His)
c.754G>C (p.Asp252His)
c.838G>C (p.Asp280His)
c.601G>C (p.Asp201His)
c.107+11G>C (n.107+11G>C)
n.885G>C
2g.232790757G>TCA351010892GIGYF2c.772G>T (p.Asp258Tyr)
c.118G>T (p.Asp40Tyr)
c.253G>T (p.Asp85Tyr)
c.28G>T (p.Asp10Tyr)
c.265G>T (p.Asp89Tyr)
c.754G>T (p.Asp252Tyr)
c.838G>T (p.Asp280Tyr)
c.601G>T (p.Asp201Tyr)
c.107+11G>T (n.107+11G>T)
n.885G>T
 gnomAD v4
2g.232790758A>CCA351010895GIGYF2c.773A>C (p.Asp258Ala)
c.119A>C (p.Asp40Ala)
c.254A>C (p.Asp85Ala)
c.29A>C (p.Asp10Ala)
c.266A>C (p.Asp89Ala)
c.755A>C (p.Asp252Ala)
c.839A>C (p.Asp280Ala)
c.602A>C (p.Asp201Ala)
c.107+12A>C (n.107+12A>C)
n.886A>C
2g.232790758A>GCA351010896GIGYF2c.773A>G (p.Asp258Gly)
c.119A>G (p.Asp40Gly)
c.254A>G (p.Asp85Gly)
c.29A>G (p.Asp10Gly)
c.266A>G (p.Asp89Gly)
c.755A>G (p.Asp252Gly)
c.839A>G (p.Asp280Gly)
c.602A>G (p.Asp201Gly)
c.107+12A>G (n.107+12A>G)
n.886A>G
 dbSNP
2g.232790758A>TCA351010897GIGYF2c.773A>T (p.Asp258Val)
c.119A>T (p.Asp40Val)
c.254A>T (p.Asp85Val)
c.29A>T (p.Asp10Val)
c.266A>T (p.Asp89Val)
c.755A>T (p.Asp252Val)
c.839A>T (p.Asp280Val)
c.602A>T (p.Asp201Val)
c.107+12A>T (n.107+12A>T)
n.886A>T
2g.232790759T>ACA351010898GIGYF2c.774T>A (p.Asp258Glu)
c.120T>A (p.Asp40Glu)
c.255T>A (p.Asp85Glu)
c.30T>A (p.Asp10Glu)
c.267T>A (p.Asp89Glu)
c.756T>A (p.Asp252Glu)
c.840T>A (p.Asp280Glu)
c.603T>A (p.Asp201Glu)
c.107+13T>A (n.107+13T>A)
n.887T>A
2g.232790759T>CCA431807665GIGYF2c.774T>C (p.Asp258=)
c.120T>C (p.Asp40=)
c.255T>C (p.Asp85=)
c.30T>C (p.Asp10=)
c.267T>C (p.Asp89=)
c.756T>C (p.Asp252=)
c.840T>C (p.Asp280=)
c.603T>C (p.Asp201=)
c.107+13T>C (n.107+13T>C)
n.887T>C
2g.232790759T>GCA351010899GIGYF2c.774T>G (p.Asp258Glu)
c.120T>G (p.Asp40Glu)
c.255T>G (p.Asp85Glu)
c.30T>G (p.Asp10Glu)
c.267T>G (p.Asp89Glu)
c.756T>G (p.Asp252Glu)
c.840T>G (p.Asp280Glu)
c.603T>G (p.Asp201Glu)
c.107+13T>G (n.107+13T>G)
n.887T>G
2g.232790760T>ACA351010900GIGYF2c.775T>A (p.Phe259Ile)
c.121T>A (p.Phe41Ile)
c.256T>A (p.Phe86Ile)
c.31T>A (p.Phe11Ile)
c.268T>A (p.Phe90Ile)
c.757T>A (p.Phe253Ile)
c.841T>A (p.Phe281Ile)
c.604T>A (p.Phe202Ile)
c.107+14T>A (n.107+14T>A)
n.888T>A
2g.232790760T>CCA351010901GIGYF2c.775T>C (p.Phe259Leu)
c.121T>C (p.Phe41Leu)
c.256T>C (p.Phe86Leu)
c.31T>C (p.Phe11Leu)
c.268T>C (p.Phe90Leu)
c.757T>C (p.Phe253Leu)
c.841T>C (p.Phe281Leu)
c.604T>C (p.Phe202Leu)
c.107+14T>C (n.107+14T>C)
n.888T>C
2g.232790760T>GCA351010902GIGYF2c.775T>G (p.Phe259Val)
c.121T>G (p.Phe41Val)
c.256T>G (p.Phe86Val)
c.31T>G (p.Phe11Val)
c.268T>G (p.Phe90Val)
c.757T>G (p.Phe253Val)
c.841T>G (p.Phe281Val)
c.604T>G (p.Phe202Val)
c.107+14T>G (n.107+14T>G)
n.888T>G
 gnomAD v4
2g.232790761T>ACA351010903GIGYF2c.776T>A (p.Phe259Tyr)
c.122T>A (p.Phe41Tyr)
c.257T>A (p.Phe86Tyr)
c.32T>A (p.Phe11Tyr)
c.269T>A (p.Phe90Tyr)
c.758T>A (p.Phe253Tyr)
c.842T>A (p.Phe281Tyr)
c.605T>A (p.Phe202Tyr)
c.107+15T>A (n.107+15T>A)
n.889T>A
2g.232790761T>CCA351010905GIGYF2c.776T>C (p.Phe259Ser)
c.122T>C (p.Phe41Ser)
c.257T>C (p.Phe86Ser)
c.32T>C (p.Phe11Ser)
c.269T>C (p.Phe90Ser)
c.758T>C (p.Phe253Ser)
c.842T>C (p.Phe281Ser)
c.605T>C (p.Phe202Ser)
c.107+15T>C (n.107+15T>C)
n.889T>C
2g.232790761T>GCA351010904GIGYF2c.776T>G (p.Phe259Cys)
c.122T>G (p.Phe41Cys)
c.257T>G (p.Phe86Cys)
c.32T>G (p.Phe11Cys)
c.269T>G (p.Phe90Cys)
c.758T>G (p.Phe253Cys)
c.842T>G (p.Phe281Cys)
c.605T>G (p.Phe202Cys)
c.107+15T>G (n.107+15T>G)
n.889T>G
2g.232790762T>ACA351010906GIGYF2c.777T>A (p.Phe259Leu)
c.123T>A (p.Phe41Leu)
c.258T>A (p.Phe86Leu)
c.33T>A (p.Phe11Leu)
c.270T>A (p.Phe90Leu)
c.759T>A (p.Phe253Leu)
c.843T>A (p.Phe281Leu)
c.606T>A (p.Phe202Leu)
c.107+16T>A (n.107+16T>A)
n.890T>A
2g.232790762T>CCA431807672GIGYF2c.777T>C (p.Phe259=)
c.123T>C (p.Phe41=)
c.258T>C (p.Phe86=)
c.33T>C (p.Phe11=)
c.270T>C (p.Phe90=)
c.759T>C (p.Phe253=)
c.843T>C (p.Phe281=)
c.606T>C (p.Phe202=)
c.107+16T>C (n.107+16T>C)
n.890T>C
2g.232790762T>GCA351010907GIGYF2c.777T>G (p.Phe259Leu)
c.123T>G (p.Phe41Leu)
c.258T>G (p.Phe86Leu)
c.33T>G (p.Phe11Leu)
c.270T>G (p.Phe90Leu)
c.759T>G (p.Phe253Leu)
c.843T>G (p.Phe281Leu)
c.606T>G (p.Phe202Leu)
c.107+16T>G (n.107+16T>G)
n.890T>G
2g.232790763C>ACA431807674GIGYF2c.778C>A (p.Arg260=)
c.124C>A (p.Arg42=)
c.259C>A (p.Arg87=)
c.34C>A (p.Arg12=)
c.271C>A (p.Arg91=)
c.760C>A (p.Arg254=)
c.844C>A (p.Arg282=)
c.607C>A (p.Arg203=)
c.107+17C>A (n.107+17C>A)
n.891C>A
2g.232790763C>GCA351010908GIGYF2c.778C>G (p.Arg260Gly)
c.124C>G (p.Arg42Gly)
c.259C>G (p.Arg87Gly)
c.34C>G (p.Arg12Gly)
c.271C>G (p.Arg91Gly)
c.760C>G (p.Arg254Gly)
c.844C>G (p.Arg282Gly)
c.607C>G (p.Arg203Gly)
c.107+17C>G (n.107+17C>G)
n.891C>G
2g.232790763C>TCA351010909GIGYF2c.778C>T (p.Arg260Ter)
c.124C>T (p.Arg42Ter)
c.259C>T (p.Arg87Ter)
c.34C>T (p.Arg12Ter)
c.271C>T (p.Arg91Ter)
c.760C>T (p.Arg254Ter)
c.844C>T (p.Arg282Ter)
c.607C>T (p.Arg203Ter)
c.107+17C>T (n.107+17C>T)
n.891C>T
 COSMIC COSMIC COSMIC
2g.232790764G>ACA351010910GIGYF2c.779G>A (p.Arg260Gln)
c.125G>A (p.Arg42Gln)
c.260G>A (p.Arg87Gln)
c.35G>A (p.Arg12Gln)
c.272G>A (p.Arg91Gln)
c.761G>A (p.Arg254Gln)
c.845G>A (p.Arg282Gln)
c.608G>A (p.Arg203Gln)
c.107+18G>A (n.107+18G>A)
n.892G>A
 gnomAD v4
2g.232790764G>CCA351010912GIGYF2c.779G>C (p.Arg260Pro)
c.125G>C (p.Arg42Pro)
c.260G>C (p.Arg87Pro)
c.35G>C (p.Arg12Pro)
c.272G>C (p.Arg91Pro)
c.761G>C (p.Arg254Pro)
c.845G>C (p.Arg282Pro)
c.608G>C (p.Arg203Pro)
c.107+18G>C (n.107+18G>C)
n.892G>C
2g.232790764G>TCA351010911GIGYF2c.779G>T (p.Arg260Leu)
c.125G>T (p.Arg42Leu)
c.260G>T (p.Arg87Leu)
c.35G>T (p.Arg12Leu)
c.272G>T (p.Arg91Leu)
c.761G>T (p.Arg254Leu)
c.845G>T (p.Arg282Leu)
c.608G>T (p.Arg203Leu)
c.107+18G>T (n.107+18G>T)
n.892G>T
2g.232790765A>CCA431807680GIGYF2c.780A>C (p.Arg260=)
c.126A>C (p.Arg42=)
c.261A>C (p.Arg87=)
c.36A>C (p.Arg12=)
c.273A>C (p.Arg91=)
c.762A>C (p.Arg254=)
c.846A>C (p.Arg282=)
c.609A>C (p.Arg203=)
c.107+19A>C (n.107+19A>C)
n.893A>C
2g.232790765A>GCA431807682GIGYF2c.780A>G (p.Arg260=)
c.126A>G (p.Arg42=)
c.261A>G (p.Arg87=)
c.36A>G (p.Arg12=)
c.273A>G (p.Arg91=)
c.762A>G (p.Arg254=)
c.846A>G (p.Arg282=)
c.609A>G (p.Arg203=)
c.107+19A>G (n.107+19A>G)
n.893A>G
 gnomAD v4
2g.232790765A>TCA431807683GIGYF2c.780A>T (p.Arg260=)
c.126A>T (p.Arg42=)
c.261A>T (p.Arg87=)
c.36A>T (p.Arg12=)
c.273A>T (p.Arg91=)
c.762A>T (p.Arg254=)
c.846A>T (p.Arg282=)
c.609A>T (p.Arg203=)
c.107+19A>T (n.107+19A>T)
n.893A>T
2g.232790766G>ACA351010913GIGYF2c.781G>A (p.Asp261Asn)
c.127G>A (p.Asp43Asn)
c.262G>A (p.Asp88Asn)
c.37G>A (p.Asp13Asn)
c.274G>A (p.Asp92Asn)
c.763G>A (p.Asp255Asn)
c.847G>A (p.Asp283Asn)
c.610G>A (p.Asp204Asn)
c.107+20G>A (n.107+20G>A)
n.894G>A
2g.232790766G>CCA351010914GIGYF2c.781G>C (p.Asp261His)
c.127G>C (p.Asp43His)
c.262G>C (p.Asp88His)
c.37G>C (p.Asp13His)
c.274G>C (p.Asp92His)
c.763G>C (p.Asp255His)
c.847G>C (p.Asp283His)
c.610G>C (p.Asp204His)
c.107+20G>C (n.107+20G>C)
n.894G>C
2g.232790766G=CA1335433289GIGYF2c.781G= (p.Asp261=)
c.127G= (p.Asp43=)
c.262G= (p.Asp88=)
c.37G= (p.Asp13=)
c.274G= (p.Asp92=)
c.763G= (p.Asp255=)
c.847G= (p.Asp283=)
c.610G= (p.Asp204=)
c.107+20G= (n.107+20G=)
n.894G=
2g.232790766G>TCA351010915GIGYF2c.781G>T (p.Asp261Tyr)
c.127G>T (p.Asp43Tyr)
c.262G>T (p.Asp88Tyr)
c.37G>T (p.Asp13Tyr)
c.274G>T (p.Asp92Tyr)
c.763G>T (p.Asp255Tyr)
c.847G>T (p.Asp283Tyr)
c.610G>T (p.Asp204Tyr)
c.107+20G>T (n.107+20G>T)
n.894G>T
 dbSNP gnomAD v2 gnomAD v4
2g.232790767A=CA1335433290GIGYF2c.782A= (p.Asp261=)
c.128A= (p.Asp43=)
c.263A= (p.Asp88=)
c.38A= (p.Asp13=)
c.275A= (p.Asp92=)
c.764A= (p.Asp255=)
c.848A= (p.Asp283=)
c.611A= (p.Asp204=)
c.107+21A= (n.107+21A=)
n.895A=
2g.232790767A>CCA351010916GIGYF2c.782A>C (p.Asp261Ala)
c.128A>C (p.Asp43Ala)
c.263A>C (p.Asp88Ala)
c.38A>C (p.Asp13Ala)
c.275A>C (p.Asp92Ala)
c.764A>C (p.Asp255Ala)
c.848A>C (p.Asp283Ala)
c.611A>C (p.Asp204Ala)
c.107+21A>C (n.107+21A>C)
n.895A>C
2g.232790767A>GCA2170192GIGYF2c.782A>G (p.Asp261Gly)
c.128A>G (p.Asp43Gly)
c.263A>G (p.Asp88Gly)
c.38A>G (p.Asp13Gly)
c.275A>G (p.Asp92Gly)
c.764A>G (p.Asp255Gly)
c.848A>G (p.Asp283Gly)
c.611A>G (p.Asp204Gly)
c.107+21A>G (n.107+21A>G)
n.895A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232790767A>TCA351010917GIGYF2c.782A>T (p.Asp261Val)
c.128A>T (p.Asp43Val)
c.263A>T (p.Asp88Val)
c.38A>T (p.Asp13Val)
c.275A>T (p.Asp92Val)
c.764A>T (p.Asp255Val)
c.848A>T (p.Asp283Val)
c.611A>T (p.Asp204Val)
c.107+21A>T (n.107+21A>T)
n.895A>T
2g.232790768T>ACA351010918GIGYF2c.783T>A (p.Asp261Glu)
c.129T>A (p.Asp43Glu)
c.264T>A (p.Asp88Glu)
c.39T>A (p.Asp13Glu)
c.276T>A (p.Asp92Glu)
c.765T>A (p.Asp255Glu)
c.849T>A (p.Asp283Glu)
c.612T>A (p.Asp204Glu)
c.107+22T>A (n.107+22T>A)
n.896T>A
 gnomAD v4
2g.232790768T>CCA2170193GIGYF2c.783T>C (p.Asp261=)
c.129T>C (p.Asp43=)
c.264T>C (p.Asp88=)
c.39T>C (p.Asp13=)
c.276T>C (p.Asp92=)
c.765T>C (p.Asp255=)
c.849T>C (p.Asp283=)
c.612T>C (p.Asp204=)
c.107+22T>C (n.107+22T>C)
n.896T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.232790768T>GCA351010919GIGYF2c.783T>G (p.Asp261Glu)
c.129T>G (p.Asp43Glu)
c.264T>G (p.Asp88Glu)
c.39T>G (p.Asp13Glu)
c.276T>G (p.Asp92Glu)
c.765T>G (p.Asp255Glu)
c.849T>G (p.Asp283Glu)
c.612T>G (p.Asp204Glu)
c.107+22T>G (n.107+22T>G)
n.896T>G
2g.232790768T=CA1335433291GIGYF2c.783T= (p.Asp261=)
c.129T= (p.Asp43=)
c.264T= (p.Asp88=)
c.39T= (p.Asp13=)
c.276T= (p.Asp92=)
c.765T= (p.Asp255=)
c.849T= (p.Asp283=)
c.612T= (p.Asp204=)
c.107+22T= (n.107+22T=)
n.896T=
2g.232790769A=CA1335433292GIGYF2c.784A= (p.Arg262=)
c.130A= (p.Arg44=)
c.265A= (p.Arg89=)
c.40A= (p.Arg14=)
c.277A= (p.Arg93=)
c.766A= (p.Arg256=)
c.850A= (p.Arg284=)
c.613A= (p.Arg205=)
c.107+23A= (n.107+23A=)
n.897A=
2g.232790769A>CCA431807695GIGYF2c.784A>C (p.Arg262=)
c.130A>C (p.Arg44=)
c.265A>C (p.Arg89=)
c.40A>C (p.Arg14=)
c.277A>C (p.Arg93=)
c.766A>C (p.Arg256=)
c.850A>C (p.Arg284=)
c.613A>C (p.Arg205=)
c.107+23A>C (n.107+23A>C)
n.897A>C
 gnomAD v4
2g.232790769A>GCA351010920GIGYF2c.784A>G (p.Arg262Gly)
c.130A>G (p.Arg44Gly)
c.265A>G (p.Arg89Gly)
c.40A>G (p.Arg14Gly)
c.277A>G (p.Arg93Gly)
c.766A>G (p.Arg256Gly)
c.850A>G (p.Arg284Gly)
c.613A>G (p.Arg205Gly)
c.107+23A>G (n.107+23A>G)
n.897A>G
 dbSNP gnomAD v2 gnomAD v4
2g.232790769A>TCA351010921GIGYF2c.784A>T (p.Arg262Ter)
c.130A>T (p.Arg44Ter)
c.265A>T (p.Arg89Ter)
c.40A>T (p.Arg14Ter)
c.277A>T (p.Arg93Ter)
c.766A>T (p.Arg256Ter)
c.850A>T (p.Arg284Ter)
c.613A>T (p.Arg205Ter)
c.107+23A>T (n.107+23A>T)
n.897A>T
2g.232790770G>ACA351010923GIGYF2c.785G>A (p.Arg262Lys)
c.131G>A (p.Arg44Lys)
c.266G>A (p.Arg89Lys)
c.41G>A (p.Arg14Lys)
c.278G>A (p.Arg93Lys)
c.767G>A (p.Arg256Lys)
c.851G>A (p.Arg284Lys)
c.614G>A (p.Arg205Lys)
c.107+24G>A (n.107+24G>A)
n.898G>A
2g.232790770G>CCA351010927GIGYF2c.785G>C (p.Arg262Thr)
c.131G>C (p.Arg44Thr)
c.266G>C (p.Arg89Thr)
c.41G>C (p.Arg14Thr)
c.278G>C (p.Arg93Thr)
c.767G>C (p.Arg256Thr)
c.851G>C (p.Arg284Thr)
c.614G>C (p.Arg205Thr)
c.107+24G>C (n.107+24G>C)
n.898G>C
2g.232790770G>TCA351010925GIGYF2c.785G>T (p.Arg262Ile)
c.131G>T (p.Arg44Ile)
c.266G>T (p.Arg89Ile)
c.41G>T (p.Arg14Ile)
c.278G>T (p.Arg93Ile)
c.767G>T (p.Arg256Ile)
c.851G>T (p.Arg284Ile)
c.614G>T (p.Arg205Ile)
c.107+24G>T (n.107+24G>T)
n.898G>T
2g.232790771A>CCA351010928GIGYF2c.786A>C (p.Arg262Ser)
c.132A>C (p.Arg44Ser)
c.267A>C (p.Arg89Ser)
c.42A>C (p.Arg14Ser)
c.279A>C (p.Arg93Ser)
c.768A>C (p.Arg256Ser)
c.852A>C (p.Arg284Ser)
c.615A>C (p.Arg205Ser)
c.107+25A>C (n.107+25A>C)
n.899A>C
2g.232790771A>GCA431807700GIGYF2c.786A>G (p.Arg262=)
c.132A>G (p.Arg44=)
c.267A>G (p.Arg89=)
c.42A>G (p.Arg14=)
c.279A>G (p.Arg93=)
c.768A>G (p.Arg256=)
c.852A>G (p.Arg284=)
c.615A>G (p.Arg205=)
c.107+25A>G (n.107+25A>G)
n.899A>G
 gnomAD v3 gnomAD v4
2g.232790771A>TCA351010929GIGYF2c.786A>T (p.Arg262Ser)
c.132A>T (p.Arg44Ser)
c.267A>T (p.Arg89Ser)
c.42A>T (p.Arg14Ser)
c.279A>T (p.Arg93Ser)
c.768A>T (p.Arg256Ser)
c.852A>T (p.Arg284Ser)
c.615A>T (p.Arg205Ser)
c.107+25A>T (n.107+25A>T)
n.899A>T
2g.232790772G>ACA351010932GIGYF2c.787G>A (p.Asp263Asn)
c.133G>A (p.Asp45Asn)
c.268G>A (p.Asp90Asn)
c.43G>A (p.Asp15Asn)
c.280G>A (p.Asp94Asn)
c.769G>A (p.Asp257Asn)
c.853G>A (p.Asp285Asn)
c.616G>A (p.Asp206Asn)
c.107+26G>A (n.107+26G>A)
n.900G>A
2g.232790772G>CCA351010933GIGYF2c.787G>C (p.Asp263His)
c.133G>C (p.Asp45His)
c.268G>C (p.Asp90His)
c.43G>C (p.Asp15His)
c.280G>C (p.Asp94His)
c.769G>C (p.Asp257His)
c.853G>C (p.Asp285His)
c.616G>C (p.Asp206His)
c.107+26G>C (n.107+26G>C)
n.900G>C
2g.232790772G>TCA351010935GIGYF2c.787G>T (p.Asp263Tyr)
c.133G>T (p.Asp45Tyr)
c.268G>T (p.Asp90Tyr)
c.43G>T (p.Asp15Tyr)
c.280G>T (p.Asp94Tyr)
c.769G>T (p.Asp257Tyr)
c.853G>T (p.Asp285Tyr)
c.616G>T (p.Asp206Tyr)
c.107+26G>T (n.107+26G>T)
n.900G>T
2g.232790773A=CA1335433293GIGYF2c.788A= (p.Asp263=)
c.134A= (p.Asp45=)
c.269A= (p.Asp90=)
c.44A= (p.Asp15=)
c.281A= (p.Asp94=)
c.770A= (p.Asp257=)
c.854A= (p.Asp285=)
c.617A= (p.Asp206=)
c.107+27A= (n.107+27A=)
n.901A=
2g.232790773A>CCA351010937GIGYF2c.788A>C (p.Asp263Ala)
c.134A>C (p.Asp45Ala)
c.269A>C (p.Asp90Ala)
c.44A>C (p.Asp15Ala)
c.281A>C (p.Asp94Ala)
c.770A>C (p.Asp257Ala)
c.854A>C (p.Asp285Ala)
c.617A>C (p.Asp206Ala)
c.107+27A>C (n.107+27A>C)
n.901A>C
2g.232790773A>GCA351010938GIGYF2c.788A>G (p.Asp263Gly)
c.134A>G (p.Asp45Gly)
c.269A>G (p.Asp90Gly)
c.44A>G (p.Asp15Gly)
c.281A>G (p.Asp94Gly)
c.770A>G (p.Asp257Gly)
c.854A>G (p.Asp285Gly)
c.617A>G (p.Asp206Gly)
c.107+27A>G (n.107+27A>G)
n.901A>G
 gnomAD v4
2g.232790773A>TCA2170194GIGYF2c.788A>T (p.Asp263Val)
c.134A>T (p.Asp45Val)
c.269A>T (p.Asp90Val)
c.44A>T (p.Asp15Val)
c.281A>T (p.Asp94Val)
c.770A>T (p.Asp257Val)
c.854A>T (p.Asp285Val)
c.617A>T (p.Asp206Val)
c.107+27A>T (n.107+27A>T)
n.901A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232790774T>ACA66994372GIGYF2c.789T>A (p.Asp263Glu)
c.135T>A (p.Asp45Glu)
c.270T>A (p.Asp90Glu)
c.45T>A (p.Asp15Glu)
c.282T>A (p.Asp94Glu)
c.771T>A (p.Asp257Glu)
c.855T>A (p.Asp285Glu)
c.618T>A (p.Asp206Glu)
c.107+28T>A (n.107+28T>A)
n.902T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232790774T>CCA431807706GIGYF2c.789T>C (p.Asp263=)
c.135T>C (p.Asp45=)
c.270T>C (p.Asp90=)
c.45T>C (p.Asp15=)
c.282T>C (p.Asp94=)
c.771T>C (p.Asp257=)
c.855T>C (p.Asp285=)
c.618T>C (p.Asp206=)
c.107+28T>C (n.107+28T>C)
n.902T>C
2g.232790774T>GCA351010941GIGYF2c.789T>G (p.Asp263Glu)
c.135T>G (p.Asp45Glu)
c.270T>G (p.Asp90Glu)
c.45T>G (p.Asp15Glu)
c.282T>G (p.Asp94Glu)
c.771T>G (p.Asp257Glu)
c.855T>G (p.Asp285Glu)
c.618T>G (p.Asp206Glu)
c.107+28T>G (n.107+28T>G)
n.902T>G
2g.232790774T=CA1335433294GIGYF2c.789T= (p.Asp263=)
c.135T= (p.Asp45=)
c.270T= (p.Asp90=)
c.45T= (p.Asp15=)
c.282T= (p.Asp94=)
c.771T= (p.Asp257=)
c.855T= (p.Asp285=)
c.618T= (p.Asp206=)
c.107+28T= (n.107+28T=)
n.902T=
2g.232790775G>ACA351010942GIGYF2c.790G>A (p.Asp264Asn)
c.136G>A (p.Asp46Asn)
c.271G>A (p.Asp91Asn)
c.46G>A (p.Asp16Asn)
c.283G>A (p.Asp95Asn)
c.772G>A (p.Asp258Asn)
c.856G>A (p.Asp286Asn)
c.619G>A (p.Asp207Asn)
c.107+29G>A (n.107+29G>A)
n.903G>A
2g.232790775G>CCA351010944GIGYF2c.790G>C (p.Asp264His)
c.136G>C (p.Asp46His)
c.271G>C (p.Asp91His)
c.46G>C (p.Asp16His)
c.283G>C (p.Asp95His)
c.772G>C (p.Asp258His)
c.856G>C (p.Asp286His)
c.619G>C (p.Asp207His)
c.107+29G>C (n.107+29G>C)
n.903G>C
2g.232790775G>TCA351010945GIGYF2c.790G>T (p.Asp264Tyr)
c.136G>T (p.Asp46Tyr)
c.271G>T (p.Asp91Tyr)
c.46G>T (p.Asp16Tyr)
c.283G>T (p.Asp95Tyr)
c.772G>T (p.Asp258Tyr)
c.856G>T (p.Asp286Tyr)
c.619G>T (p.Asp207Tyr)
c.107+29G>T (n.107+29G>T)
n.903G>T
2g.232790776A>CCA351010948GIGYF2c.791A>C (p.Asp264Ala)
c.137A>C (p.Asp46Ala)
c.272A>C (p.Asp91Ala)
c.47A>C (p.Asp16Ala)
c.284A>C (p.Asp95Ala)
c.773A>C (p.Asp258Ala)
c.857A>C (p.Asp286Ala)
c.620A>C (p.Asp207Ala)
c.107+30A>C (n.107+30A>C)
n.904A>C
2g.232790776A>GCA351010951GIGYF2c.791A>G (p.Asp264Gly)
c.137A>G (p.Asp46Gly)
c.272A>G (p.Asp91Gly)
c.47A>G (p.Asp16Gly)
c.284A>G (p.Asp95Gly)
c.773A>G (p.Asp258Gly)
c.857A>G (p.Asp286Gly)
c.620A>G (p.Asp207Gly)
c.107+30A>G (n.107+30A>G)
n.904A>G
2g.232790776A>TCA351010949GIGYF2c.791A>T (p.Asp264Val)
c.137A>T (p.Asp46Val)
c.272A>T (p.Asp91Val)
c.47A>T (p.Asp16Val)
c.284A>T (p.Asp95Val)
c.773A>T (p.Asp258Val)
c.857A>T (p.Asp286Val)
c.620A>T (p.Asp207Val)
c.107+30A>T (n.107+30A>T)
n.904A>T
2g.232790777T>ACA351010952GIGYF2c.792T>A (p.Asp264Glu)
c.138T>A (p.Asp46Glu)
c.273T>A (p.Asp91Glu)
c.48T>A (p.Asp16Glu)
c.285T>A (p.Asp95Glu)
c.774T>A (p.Asp258Glu)
c.858T>A (p.Asp286Glu)
c.621T>A (p.Asp207Glu)
c.107+31T>A (n.107+31T>A)
n.905T>A
2g.232790777T>CCA2170195GIGYF2c.792T>C (p.Asp264=)
c.138T>C (p.Asp46=)
c.273T>C (p.Asp91=)
c.48T>C (p.Asp16=)
c.285T>C (p.Asp95=)
c.774T>C (p.Asp258=)
c.858T>C (p.Asp286=)
c.621T>C (p.Asp207=)
c.107+31T>C (n.107+31T>C)
n.905T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232790777T>GCA351010954GIGYF2c.792T>G (p.Asp264Glu)
c.138T>G (p.Asp46Glu)
c.273T>G (p.Asp91Glu)
c.48T>G (p.Asp16Glu)
c.285T>G (p.Asp95Glu)
c.774T>G (p.Asp258Glu)
c.858T>G (p.Asp286Glu)
c.621T>G (p.Asp207Glu)
c.107+31T>G (n.107+31T>G)
n.905T>G
 gnomAD v4
2g.232790777T=CA1335433295GIGYF2c.792T= (p.Asp264=)
c.138T= (p.Asp46=)
c.273T= (p.Asp91=)
c.48T= (p.Asp16=)
c.285T= (p.Asp95=)
c.774T= (p.Asp258=)
c.858T= (p.Asp286=)
c.621T= (p.Asp207=)
c.107+31T= (n.107+31T=)
n.905T=
2g.232790778G>ACA351010956GIGYF2c.793G>A (p.Glu265Lys)
c.139G>A (p.Glu47Lys)
c.274G>A (p.Glu92Lys)
c.49G>A (p.Glu17Lys)
c.286G>A (p.Glu96Lys)
c.775G>A (p.Glu259Lys)
c.859G>A (p.Glu287Lys)
c.622G>A (p.Glu208Lys)
c.107+32G>A (n.107+32G>A)
n.906G>A
 dbSNP gnomAD v2 gnomAD v4
2g.232790778G>CCA351010958GIGYF2c.793G>C (p.Glu265Gln)
c.139G>C (p.Glu47Gln)
c.274G>C (p.Glu92Gln)
c.49G>C (p.Glu17Gln)
c.286G>C (p.Glu96Gln)
c.775G>C (p.Glu259Gln)
c.859G>C (p.Glu287Gln)
c.622G>C (p.Glu208Gln)
c.107+32G>C (n.107+32G>C)
n.906G>C
2g.232790778G=CA1335433296GIGYF2c.793G= (p.Glu265=)
c.139G= (p.Glu47=)
c.274G= (p.Glu92=)
c.49G= (p.Glu17=)
c.286G= (p.Glu96=)
c.775G= (p.Glu259=)
c.859G= (p.Glu287=)
c.622G= (p.Glu208=)
c.107+32G= (n.107+32G=)
n.906G=
2g.232790778G>TCA351010959GIGYF2c.793G>T (p.Glu265Ter)
c.139G>T (p.Glu47Ter)
c.274G>T (p.Glu92Ter)
c.49G>T (p.Glu17Ter)
c.286G>T (p.Glu96Ter)
c.775G>T (p.Glu259Ter)
c.859G>T (p.Glu287Ter)
c.622G>T (p.Glu208Ter)
c.107+32G>T (n.107+32G>T)
n.906G>T
2g.232790779A>CCA351010961GIGYF2c.794A>C (p.Glu265Ala)
c.140A>C (p.Glu47Ala)
c.275A>C (p.Glu92Ala)
c.50A>C (p.Glu17Ala)
c.287A>C (p.Glu96Ala)
c.776A>C (p.Glu259Ala)
c.860A>C (p.Glu287Ala)
c.623A>C (p.Glu208Ala)
c.107+33A>C (n.107+33A>C)
n.907A>C
2g.232790779A>GCA351010963GIGYF2c.794A>G (p.Glu265Gly)
c.140A>G (p.Glu47Gly)
c.275A>G (p.Glu92Gly)
c.50A>G (p.Glu17Gly)
c.287A>G (p.Glu96Gly)
c.776A>G (p.Glu259Gly)
c.860A>G (p.Glu287Gly)
c.623A>G (p.Glu208Gly)
c.107+33A>G (n.107+33A>G)
n.907A>G
2g.232790779A>TCA351010965GIGYF2c.794A>T (p.Glu265Val)
c.140A>T (p.Glu47Val)
c.275A>T (p.Glu92Val)
c.50A>T (p.Glu17Val)
c.287A>T (p.Glu96Val)
c.776A>T (p.Glu259Val)
c.860A>T (p.Glu287Val)
c.623A>T (p.Glu208Val)
c.107+33A>T (n.107+33A>T)
n.907A>T
2g.232790780A>CCA351010967GIGYF2c.795A>C (p.Glu265Asp)
c.141A>C (p.Glu47Asp)
c.276A>C (p.Glu92Asp)
c.51A>C (p.Glu17Asp)
c.288A>C (p.Glu96Asp)
c.777A>C (p.Glu259Asp)
c.861A>C (p.Glu287Asp)
c.624A>C (p.Glu208Asp)
c.107+34A>C (n.107+34A>C)
n.908A>C
2g.232790780A>GCA431807720GIGYF2c.795A>G (p.Glu265=)
c.141A>G (p.Glu47=)
c.276A>G (p.Glu92=)
c.51A>G (p.Glu17=)
c.288A>G (p.Glu96=)
c.777A>G (p.Glu259=)
c.861A>G (p.Glu287=)
c.624A>G (p.Glu208=)
c.107+34A>G (n.107+34A>G)
n.908A>G
 gnomAD v4
2g.232790780A>TCA351010969GIGYF2c.795A>T (p.Glu265Asp)
c.141A>T (p.Glu47Asp)
c.276A>T (p.Glu92Asp)
c.51A>T (p.Glu17Asp)
c.288A>T (p.Glu96Asp)
c.777A>T (p.Glu259Asp)
c.861A>T (p.Glu287Asp)
c.624A>T (p.Glu208Asp)
c.107+34A>T (n.107+34A>T)
n.908A>T
2g.232790781C>ACA431807723GIGYF2c.796C>A (p.Arg266=)
c.142C>A (p.Arg48=)
c.277C>A (p.Arg93=)
c.52C>A (p.Arg18=)
c.289C>A (p.Arg97=)
c.778C>A (p.Arg260=)
c.862C>A (p.Arg288=)
c.625C>A (p.Arg209=)
c.107+35C>A (n.107+35C>A)
n.909C>A
2g.232790781C=CA1335433297GIGYF2c.796C= (p.Arg266=)
c.142C= (p.Arg48=)
c.277C= (p.Arg93=)
c.52C= (p.Arg18=)
c.289C= (p.Arg97=)
c.778C= (p.Arg260=)
c.862C= (p.Arg288=)
c.625C= (p.Arg209=)
c.107+35C= (n.107+35C=)
n.909C=
2g.232790781C>GCA351010972GIGYF2c.796C>G (p.Arg266Gly)
c.142C>G (p.Arg48Gly)
c.277C>G (p.Arg93Gly)
c.52C>G (p.Arg18Gly)
c.289C>G (p.Arg97Gly)
c.778C>G (p.Arg260Gly)
c.862C>G (p.Arg288Gly)
c.625C>G (p.Arg209Gly)
c.107+35C>G (n.107+35C>G)
n.909C>G
2g.232790781C>TCA2170196GIGYF2c.796C>T (p.Arg266Trp)
c.142C>T (p.Arg48Trp)
c.277C>T (p.Arg93Trp)
c.52C>T (p.Arg18Trp)
c.289C>T (p.Arg97Trp)
c.778C>T (p.Arg260Trp)
c.862C>T (p.Arg288Trp)
c.625C>T (p.Arg209Trp)
c.107+35C>T (n.107+35C>T)
n.909C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232790782G>ACA2170197GIGYF2c.797G>A (p.Arg266Gln)
c.143G>A (p.Arg48Gln)
c.278G>A (p.Arg93Gln)
c.53G>A (p.Arg18Gln)
c.290G>A (p.Arg97Gln)
c.779G>A (p.Arg260Gln)
c.863G>A (p.Arg288Gln)
c.626G>A (p.Arg209Gln)
c.107+36G>A (n.107+36G>A)
n.910G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232790782G>CCA351010976GIGYF2c.797G>C (p.Arg266Pro)
c.143G>C (p.Arg48Pro)
c.278G>C (p.Arg93Pro)
c.53G>C (p.Arg18Pro)
c.290G>C (p.Arg97Pro)
c.779G>C (p.Arg260Pro)
c.863G>C (p.Arg288Pro)
c.626G>C (p.Arg209Pro)
c.107+36G>C (n.107+36G>C)
n.910G>C
2g.232790782G=CA1335433298GIGYF2c.797G= (p.Arg266=)
c.143G= (p.Arg48=)
c.278G= (p.Arg93=)
c.53G= (p.Arg18=)
c.290G= (p.Arg97=)
c.779G= (p.Arg260=)
c.863G= (p.Arg288=)
c.626G= (p.Arg209=)
c.107+36G= (n.107+36G=)
n.910G=
2g.232790782G>TCA351010974GIGYF2c.797G>T (p.Arg266Leu)
c.143G>T (p.Arg48Leu)
c.278G>T (p.Arg93Leu)
c.53G>T (p.Arg18Leu)
c.290G>T (p.Arg97Leu)
c.779G>T (p.Arg260Leu)
c.863G>T (p.Arg288Leu)
c.626G>T (p.Arg209Leu)
c.107+36G>T (n.107+36G>T)
n.910G>T
2g.232790783G>ACA431807730GIGYF2c.798G>A (p.Arg266=)
c.144G>A (p.Arg48=)
c.279G>A (p.Arg93=)
c.54G>A (p.Arg18=)
c.291G>A (p.Arg97=)
c.780G>A (p.Arg260=)
c.864G>A (p.Arg288=)
c.627G>A (p.Arg209=)
c.107+37G>A (n.107+37G>A)
n.911G>A
2g.232790783G>CCA431807733GIGYF2c.798G>C (p.Arg266=)
c.144G>C (p.Arg48=)
c.279G>C (p.Arg93=)
c.54G>C (p.Arg18=)
c.291G>C (p.Arg97=)
c.780G>C (p.Arg260=)
c.864G>C (p.Arg288=)
c.627G>C (p.Arg209=)
c.107+37G>C (n.107+37G>C)
n.911G>C
2g.232790783G>TCA431807731GIGYF2c.798G>T (p.Arg266=)
c.144G>T (p.Arg48=)
c.279G>T (p.Arg93=)
c.54G>T (p.Arg18=)
c.291G>T (p.Arg97=)
c.780G>T (p.Arg260=)
c.864G>T (p.Arg288=)
c.627G>T (p.Arg209=)
c.107+37G>T (n.107+37G>T)
n.911G>T
2g.232790784G>ACA351010978GIGYF2c.799G>A (p.Gly267Ser)
c.145G>A (p.Gly49Ser)
c.280G>A (p.Gly94Ser)
c.55G>A (p.Gly19Ser)
c.292G>A (p.Gly98Ser)
c.781G>A (p.Gly261Ser)
c.865G>A (p.Gly289Ser)
c.628G>A (p.Gly210Ser)
c.107+38G>A (n.107+38G>A)
n.912G>A
2g.232790784G>CCA351010981GIGYF2c.799G>C (p.Gly267Arg)
c.145G>C (p.Gly49Arg)
c.280G>C (p.Gly94Arg)
c.55G>C (p.Gly19Arg)
c.292G>C (p.Gly98Arg)
c.781G>C (p.Gly261Arg)
c.865G>C (p.Gly289Arg)
c.628G>C (p.Gly210Arg)
c.107+38G>C (n.107+38G>C)
n.912G>C
2g.232790784G>TCA351010980GIGYF2c.799G>T (p.Gly267Cys)
c.145G>T (p.Gly49Cys)
c.280G>T (p.Gly94Cys)
c.55G>T (p.Gly19Cys)
c.292G>T (p.Gly98Cys)
c.781G>T (p.Gly261Cys)
c.865G>T (p.Gly289Cys)
c.628G>T (p.Gly210Cys)
c.107+38G>T (n.107+38G>T)
n.912G>T
2g.232790785G>ACA351010983GIGYF2c.800G>A (p.Gly267Asp)
c.146G>A (p.Gly49Asp)
c.281G>A (p.Gly94Asp)
c.56G>A (p.Gly19Asp)
c.293G>A (p.Gly98Asp)
c.782G>A (p.Gly261Asp)
c.866G>A (p.Gly289Asp)
c.629G>A (p.Gly210Asp)
c.107+39G>A (n.107+39G>A)
n.913G>A
2g.232790785G>CCA351010987GIGYF2c.800G>C (p.Gly267Ala)
c.146G>C (p.Gly49Ala)
c.281G>C (p.Gly94Ala)
c.56G>C (p.Gly19Ala)
c.293G>C (p.Gly98Ala)
c.782G>C (p.Gly261Ala)
c.866G>C (p.Gly289Ala)
c.629G>C (p.Gly210Ala)
c.107+39G>C (n.107+39G>C)
n.913G>C
 gnomAD v4
2g.232790785G>TCA351010985GIGYF2c.800G>T (p.Gly267Val)
c.146G>T (p.Gly49Val)
c.281G>T (p.Gly94Val)
c.56G>T (p.Gly19Val)
c.293G>T (p.Gly98Val)
c.782G>T (p.Gly261Val)
c.866G>T (p.Gly289Val)
c.629G>T (p.Gly210Val)
c.107+39G>T (n.107+39G>T)
n.913G>T
 gnomAD v4
2g.232790786T>ACA431807738GIGYF2c.801T>A (p.Gly267=)
c.147T>A (p.Gly49=)
c.282T>A (p.Gly94=)
c.57T>A (p.Gly19=)
c.294T>A (p.Gly98=)
c.783T>A (p.Gly261=)
c.867T>A (p.Gly289=)
c.630T>A (p.Gly210=)
c.107+40T>A (n.107+40T>A)
n.914T>A
2g.232790786T>CCA431807739GIGYF2c.801T>C (p.Gly267=)
c.147T>C (p.Gly49=)
c.282T>C (p.Gly94=)
c.57T>C (p.Gly19=)
c.294T>C (p.Gly98=)
c.783T>C (p.Gly261=)
c.867T>C (p.Gly289=)
c.630T>C (p.Gly210=)
c.107+40T>C (n.107+40T>C)
n.914T>C
2g.232790786T>GCA431807741GIGYF2c.801T>G (p.Gly267=)
c.147T>G (p.Gly49=)
c.282T>G (p.Gly94=)
c.57T>G (p.Gly19=)
c.294T>G (p.Gly98=)
c.783T>G (p.Gly261=)
c.867T>G (p.Gly289=)
c.630T>G (p.Gly210=)
c.107+40T>G (n.107+40T>G)
n.914T>G
2g.232790787T>ACA351010988GIGYF2c.802T>A (p.Tyr268Asn)
c.148T>A (p.Tyr50Asn)
c.283T>A (p.Tyr95Asn)
c.58T>A (p.Tyr20Asn)
c.295T>A (p.Tyr99Asn)
c.784T>A (p.Tyr262Asn)
c.868T>A (p.Tyr290Asn)
c.631T>A (p.Tyr211Asn)
c.107+41T>A (n.107+41T>A)
n.915T>A
2g.232790787T>CCA351010990GIGYF2c.802T>C (p.Tyr268His)
c.148T>C (p.Tyr50His)
c.283T>C (p.Tyr95His)
c.58T>C (p.Tyr20His)
c.295T>C (p.Tyr99His)
c.784T>C (p.Tyr262His)
c.868T>C (p.Tyr290His)
c.631T>C (p.Tyr211His)
c.107+41T>C (n.107+41T>C)
n.915T>C
2g.232790787T>GCA351010989GIGYF2c.802T>G (p.Tyr268Asp)
c.148T>G (p.Tyr50Asp)
c.283T>G (p.Tyr95Asp)
c.58T>G (p.Tyr20Asp)
c.295T>G (p.Tyr99Asp)
c.784T>G (p.Tyr262Asp)
c.868T>G (p.Tyr290Asp)
c.631T>G (p.Tyr211Asp)
c.107+41T>G (n.107+41T>G)
n.915T>G
2g.232790788A>CCA351010993GIGYF2c.803A>C (p.Tyr268Ser)
c.149A>C (p.Tyr50Ser)
c.284A>C (p.Tyr95Ser)
c.59A>C (p.Tyr20Ser)
c.296A>C (p.Tyr99Ser)
c.785A>C (p.Tyr262Ser)
c.869A>C (p.Tyr290Ser)
c.632A>C (p.Tyr211Ser)
c.107+42A>C (n.107+42A>C)
n.916A>C
2g.232790788A>GCA351010996GIGYF2c.803A>G (p.Tyr268Cys)
c.149A>G (p.Tyr50Cys)
c.284A>G (p.Tyr95Cys)
c.59A>G (p.Tyr20Cys)
c.296A>G (p.Tyr99Cys)
c.785A>G (p.Tyr262Cys)
c.869A>G (p.Tyr290Cys)
c.632A>G (p.Tyr211Cys)
c.107+42A>G (n.107+42A>G)
n.916A>G
2g.232790788A>TCA351010995GIGYF2c.803A>T (p.Tyr268Phe)
c.149A>T (p.Tyr50Phe)
c.284A>T (p.Tyr95Phe)
c.59A>T (p.Tyr20Phe)
c.296A>T (p.Tyr99Phe)
c.785A>T (p.Tyr262Phe)
c.869A>T (p.Tyr290Phe)
c.632A>T (p.Tyr211Phe)
c.107+42A>T (n.107+42A>T)
n.916A>T
2g.232790789C>ACA351010998GIGYF2c.804C>A (p.Tyr268Ter)
c.150C>A (p.Tyr50Ter)
c.285C>A (p.Tyr95Ter)
c.60C>A (p.Tyr20Ter)
c.297C>A (p.Tyr99Ter)
c.786C>A (p.Tyr262Ter)
c.870C>A (p.Tyr290Ter)
c.633C>A (p.Tyr211Ter)
c.107+43C>A (n.107+43C>A)
n.917C>A
2g.232790789C>GCA351011000GIGYF2c.804C>G (p.Tyr268Ter)
c.150C>G (p.Tyr50Ter)
c.285C>G (p.Tyr95Ter)
c.60C>G (p.Tyr20Ter)
c.297C>G (p.Tyr99Ter)
c.786C>G (p.Tyr262Ter)
c.870C>G (p.Tyr290Ter)
c.633C>G (p.Tyr211Ter)
c.107+43C>G (n.107+43C>G)
n.917C>G
2g.232790789C>TCA431807750GIGYF2c.804C>T (p.Tyr268=)
c.150C>T (p.Tyr50=)
c.285C>T (p.Tyr95=)
c.60C>T (p.Tyr20=)
c.297C>T (p.Tyr99=)
c.786C>T (p.Tyr262=)
c.870C>T (p.Tyr290=)
c.633C>T (p.Tyr211=)
c.107+43C>T (n.107+43C>T)
n.917C>T
 gnomAD v4
2g.232790790C>ACA431807751GIGYF2c.805C>A (p.Arg269=)
c.151C>A (p.Arg51=)
c.286C>A (p.Arg96=)
c.61C>A (p.Arg21=)
c.298C>A (p.Arg100=)
c.787C>A (p.Arg263=)
c.871C>A (p.Arg291=)
c.634C>A (p.Arg212=)
c.107+44C>A (n.107+44C>A)
n.918C>A
2g.232790790C=CA1335433299GIGYF2c.805C= (p.Arg269=)
c.151C= (p.Arg51=)
c.286C= (p.Arg96=)
c.61C= (p.Arg21=)
c.298C= (p.Arg100=)
c.787C= (p.Arg263=)
c.871C= (p.Arg291=)
c.634C= (p.Arg212=)
c.107+44C= (n.107+44C=)
n.918C=
2g.232790790C>GCA351011002GIGYF2c.805C>G (p.Arg269Gly)
c.151C>G (p.Arg51Gly)
c.286C>G (p.Arg96Gly)
c.61C>G (p.Arg21Gly)
c.298C>G (p.Arg100Gly)
c.787C>G (p.Arg263Gly)
c.871C>G (p.Arg291Gly)
c.634C>G (p.Arg212Gly)
c.107+44C>G (n.107+44C>G)
n.918C>G
2g.232790790C>TCA351011003GIGYF2c.805C>T (p.Arg269Ter)
c.151C>T (p.Arg51Ter)
c.286C>T (p.Arg96Ter)
c.61C>T (p.Arg21Ter)
c.298C>T (p.Arg100Ter)
c.787C>T (p.Arg263Ter)
c.871C>T (p.Arg291Ter)
c.634C>T (p.Arg212Ter)
c.107+44C>T (n.107+44C>T)
n.918C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.232790791G>ACA351011005GIGYF2c.806G>A (p.Arg269Gln)
c.152G>A (p.Arg51Gln)
c.287G>A (p.Arg96Gln)
c.62G>A (p.Arg21Gln)
c.299G>A (p.Arg100Gln)
c.788G>A (p.Arg263Gln)
c.872G>A (p.Arg291Gln)
c.635G>A (p.Arg212Gln)
c.107+45G>A (n.107+45G>A)
n.919G>A
 dbSNP gnomAD v4
2g.232790791G>CCA351011007GIGYF2c.806G>C (p.Arg269Pro)
c.152G>C (p.Arg51Pro)
c.287G>C (p.Arg96Pro)
c.62G>C (p.Arg21Pro)
c.299G>C (p.Arg100Pro)
c.788G>C (p.Arg263Pro)
c.872G>C (p.Arg291Pro)
c.635G>C (p.Arg212Pro)
c.107+45G>C (n.107+45G>C)
n.919G>C
 gnomAD v4
2g.232790791G=CA1335433300GIGYF2c.806G= (p.Arg269=)
c.152G= (p.Arg51=)
c.287G= (p.Arg96=)
c.62G= (p.Arg21=)
c.299G= (p.Arg100=)
c.788G= (p.Arg263=)
c.872G= (p.Arg291=)
c.635G= (p.Arg212=)
c.107+45G= (n.107+45G=)
n.919G=
2g.232790791G>TCA351011008GIGYF2c.806G>T (p.Arg269Leu)
c.152G>T (p.Arg51Leu)
c.287G>T (p.Arg96Leu)
c.62G>T (p.Arg21Leu)
c.299G>T (p.Arg100Leu)
c.788G>T (p.Arg263Leu)
c.872G>T (p.Arg291Leu)
c.635G>T (p.Arg212Leu)
c.107+45G>T (n.107+45G>T)
n.919G>T
 gnomAD v4
2g.232790792A>CCA431807758GIGYF2c.807A>C (p.Arg269=)
c.153A>C (p.Arg51=)
c.288A>C (p.Arg96=)
c.63A>C (p.Arg21=)
c.300A>C (p.Arg100=)
c.789A>C (p.Arg263=)
c.873A>C (p.Arg291=)
c.636A>C (p.Arg212=)
c.107+46A>C (n.107+46A>C)
n.920A>C
2g.232790792A>GCA431807760GIGYF2c.807A>G (p.Arg269=)
c.153A>G (p.Arg51=)
c.288A>G (p.Arg96=)
c.63A>G (p.Arg21=)
c.300A>G (p.Arg100=)
c.789A>G (p.Arg263=)
c.873A>G (p.Arg291=)
c.636A>G (p.Arg212=)
c.107+46A>G (n.107+46A>G)
n.920A>G
2g.232790792A>TCA431807761GIGYF2c.807A>T (p.Arg269=)
c.153A>T (p.Arg51=)
c.288A>T (p.Arg96=)
c.63A>T (p.Arg21=)
c.300A>T (p.Arg100=)
c.789A>T (p.Arg263=)
c.873A>T (p.Arg291=)
c.636A>T (p.Arg212=)
c.107+46A>T (n.107+46A>T)
n.920A>T
2g.232790793A>CCA431807763GIGYF2c.808A>C (p.Arg270=)
c.154A>C (p.Arg52=)
c.289A>C (p.Arg97=)
c.64A>C (p.Arg22=)
c.301A>C (p.Arg101=)
c.790A>C (p.Arg264=)
c.874A>C (p.Arg292=)
c.637A>C (p.Arg213=)
c.107+47A>C (n.107+47A>C)
n.921A>C
2g.232790793A>GCA351011010GIGYF2c.808A>G (p.Arg270Gly)
c.154A>G (p.Arg52Gly)
c.289A>G (p.Arg97Gly)
c.64A>G (p.Arg22Gly)
c.301A>G (p.Arg101Gly)
c.790A>G (p.Arg264Gly)
c.874A>G (p.Arg292Gly)
c.637A>G (p.Arg213Gly)
c.107+47A>G (n.107+47A>G)
n.921A>G
2g.232790793A>TCA351011012GIGYF2c.808A>T (p.Arg270Trp)
c.154A>T (p.Arg52Trp)
c.289A>T (p.Arg97Trp)
c.64A>T (p.Arg22Trp)
c.301A>T (p.Arg101Trp)
c.790A>T (p.Arg264Trp)
c.874A>T (p.Arg292Trp)
c.637A>T (p.Arg213Trp)
c.107+47A>T (n.107+47A>T)
n.921A>T
2g.232790794G>ACA351011018GIGYF2c.809G>A (p.Arg270Lys)
c.155G>A (p.Arg52Lys)
c.290G>A (p.Arg97Lys)
c.65G>A (p.Arg22Lys)
c.302G>A (p.Arg101Lys)
c.791G>A (p.Arg264Lys)
c.875G>A (p.Arg292Lys)
c.638G>A (p.Arg213Lys)
c.107+48G>A (n.107+48G>A)
n.922G>A
2g.232790794G>CCA351011016GIGYF2c.809G>C (p.Arg270Thr)
c.155G>C (p.Arg52Thr)
c.290G>C (p.Arg97Thr)
c.65G>C (p.Arg22Thr)
c.302G>C (p.Arg101Thr)
c.791G>C (p.Arg264Thr)
c.875G>C (p.Arg292Thr)
c.638G>C (p.Arg213Thr)
c.107+48G>C (n.107+48G>C)
n.922G>C
2g.232790794G>TCA351011014GIGYF2c.809G>T (p.Arg270Met)
c.155G>T (p.Arg52Met)
c.290G>T (p.Arg97Met)
c.65G>T (p.Arg22Met)
c.302G>T (p.Arg101Met)
c.791G>T (p.Arg264Met)
c.875G>T (p.Arg292Met)
c.638G>T (p.Arg213Met)
c.107+48G>T (n.107+48G>T)
n.922G>T
2g.232790795G>ACA431807771GIGYF2c.810G>A (p.Arg270=)
c.156G>A (p.Arg52=)
c.291G>A (p.Arg97=)
c.66G>A (p.Arg22=)
c.303G>A (p.Arg101=)
c.792G>A (p.Arg264=)
c.876G>A (p.Arg292=)
c.639G>A (p.Arg213=)
c.107+49G>A (n.107+49G>A)
n.923G>A
 dbSNP gnomAD v3 gnomAD v4
2g.232790795G>CCA351011019GIGYF2c.810G>C (p.Arg270Ser)
c.156G>C (p.Arg52Ser)
c.291G>C (p.Arg97Ser)
c.66G>C (p.Arg22Ser)
c.303G>C (p.Arg101Ser)
c.792G>C (p.Arg264Ser)
c.876G>C (p.Arg292Ser)
c.639G>C (p.Arg213Ser)
c.107+49G>C (n.107+49G>C)
n.923G>C
2g.232790795G=CA1335433301GIGYF2c.810G= (p.Arg270=)
c.156G= (p.Arg52=)
c.291G= (p.Arg97=)
c.66G= (p.Arg22=)
c.303G= (p.Arg101=)
c.792G= (p.Arg264=)
c.876G= (p.Arg292=)
c.639G= (p.Arg213=)
c.107+49G= (n.107+49G=)
n.923G=
2g.232790795G>TCA66994373GIGYF2c.810G>T (p.Arg270Ser)
c.156G>T (p.Arg52Ser)
c.291G>T (p.Arg97Ser)
c.66G>T (p.Arg22Ser)
c.303G>T (p.Arg101Ser)
c.792G>T (p.Arg264Ser)
c.876G>T (p.Arg292Ser)
c.639G>T (p.Arg213Ser)
c.107+49G>T (n.107+49G>T)
n.923G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232790796G>ACA351011022GIGYF2c.811G>A (p.Val271Ile)
c.157G>A (p.Val53Ile)
c.292G>A (p.Val98Ile)
c.67G>A (p.Val23Ile)
c.304G>A (p.Val102Ile)
c.793G>A (p.Val265Ile)
c.877G>A (p.Val293Ile)
c.640G>A (p.Val214Ile)
c.107+50G>A (n.107+50G>A)
n.924G>A
2g.232790796G>CCA351011024GIGYF2c.811G>C (p.Val271Leu)
c.157G>C (p.Val53Leu)
c.292G>C (p.Val98Leu)
c.67G>C (p.Val23Leu)
c.304G>C (p.Val102Leu)
c.793G>C (p.Val265Leu)
c.877G>C (p.Val293Leu)
c.640G>C (p.Val214Leu)
c.107+50G>C (n.107+50G>C)
n.924G>C
2g.232790796G>TCA351011025GIGYF2c.811G>T (p.Val271Phe)
c.157G>T (p.Val53Phe)
c.292G>T (p.Val98Phe)
c.67G>T (p.Val23Phe)
c.304G>T (p.Val102Phe)
c.793G>T (p.Val265Phe)
c.877G>T (p.Val293Phe)
c.640G>T (p.Val214Phe)
c.107+50G>T (n.107+50G>T)
n.924G>T
2g.232790797T>ACA351011027GIGYF2c.812T>A (p.Val271Asp)
c.158T>A (p.Val53Asp)
c.293T>A (p.Val98Asp)
c.68T>A (p.Val23Asp)
c.305T>A (p.Val102Asp)
c.794T>A (p.Val265Asp)
c.878T>A (p.Val293Asp)
c.641T>A (p.Val214Asp)
c.107+51T>A (n.107+51T>A)
n.925T>A
2g.232790797T>CCA351011029GIGYF2c.812T>C (p.Val271Ala)
c.158T>C (p.Val53Ala)
c.293T>C (p.Val98Ala)
c.68T>C (p.Val23Ala)
c.305T>C (p.Val102Ala)
c.794T>C (p.Val265Ala)
c.878T>C (p.Val293Ala)
c.641T>C (p.Val214Ala)
c.107+51T>C (n.107+51T>C)
n.925T>C
 dbSNP gnomAD v4
2g.232790797T>GCA351011031GIGYF2c.812T>G (p.Val271Gly)
c.158T>G (p.Val53Gly)
c.293T>G (p.Val98Gly)
c.68T>G (p.Val23Gly)
c.305T>G (p.Val102Gly)
c.794T>G (p.Val265Gly)
c.878T>G (p.Val293Gly)
c.641T>G (p.Val214Gly)
c.107+51T>G (n.107+51T>G)
n.925T>G
2g.232790797T=CA1335433302GIGYF2c.812T= (p.Val271=)
c.158T= (p.Val53=)
c.293T= (p.Val98=)
c.68T= (p.Val23=)
c.305T= (p.Val102=)
c.794T= (p.Val265=)
c.878T= (p.Val293=)
c.641T= (p.Val214=)
c.107+51T= (n.107+51T=)
n.925T=
2g.232790798T>ACA431807781GIGYF2c.813T>A (p.Val271=)
c.159T>A (p.Val53=)
c.294T>A (p.Val98=)
c.69T>A (p.Val23=)
c.306T>A (p.Val102=)
c.795T>A (p.Val265=)
c.879T>A (p.Val293=)
c.642T>A (p.Val214=)
c.107+52T>A (n.107+52T>A)
n.926T>A
2g.232790798T>CCA431807783GIGYF2c.813T>C (p.Val271=)
c.159T>C (p.Val53=)
c.294T>C (p.Val98=)
c.69T>C (p.Val23=)
c.306T>C (p.Val102=)
c.795T>C (p.Val265=)
c.879T>C (p.Val293=)
c.642T>C (p.Val214=)
c.107+52T>C (n.107+52T>C)
n.926T>C
2g.232790798T>GCA431807789GIGYF2c.813T>G (p.Val271=)
c.159T>G (p.Val53=)
c.294T>G (p.Val98=)
c.69T>G (p.Val23=)
c.306T>G (p.Val102=)
c.795T>G (p.Val265=)
c.879T>G (p.Val293=)
c.642T>G (p.Val214=)
c.107+52T>G (n.107+52T>G)
n.926T>G
2g.232790799C>ACA351011032GIGYF2c.814C>A (p.Arg272Ser)
c.160C>A (p.Arg54Ser)
c.295C>A (p.Arg99Ser)
c.70C>A (p.Arg24Ser)
c.307C>A (p.Arg103Ser)
c.796C>A (p.Arg266Ser)
c.880C>A (p.Arg294Ser)
c.643C>A (p.Arg215Ser)
c.107+53C>A (n.107+53C>A)
n.927C>A
2g.232790799C=CA1335433303GIGYF2c.814C= (p.Arg272=)
c.160C= (p.Arg54=)
c.295C= (p.Arg99=)
c.70C= (p.Arg24=)
c.307C= (p.Arg103=)
c.796C= (p.Arg266=)
c.880C= (p.Arg294=)
c.643C= (p.Arg215=)
c.107+53C= (n.107+53C=)
n.927C=
2g.232790799C>GCA351011034GIGYF2c.814C>G (p.Arg272Gly)
c.160C>G (p.Arg54Gly)
c.295C>G (p.Arg99Gly)
c.70C>G (p.Arg24Gly)
c.307C>G (p.Arg103Gly)
c.796C>G (p.Arg266Gly)
c.880C>G (p.Arg294Gly)
c.643C>G (p.Arg215Gly)
c.107+53C>G (n.107+53C>G)
n.927C>G
2g.232790799C>TCA2170198GIGYF2c.814C>T (p.Arg272Cys)
c.160C>T (p.Arg54Cys)
c.295C>T (p.Arg99Cys)
c.70C>T (p.Arg24Cys)
c.307C>T (p.Arg103Cys)
c.796C>T (p.Arg266Cys)
c.880C>T (p.Arg294Cys)
c.643C>T (p.Arg215Cys)
c.107+53C>T (n.107+53C>T)
n.927C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.232790800G>ACA351011039GIGYF2c.815G>A (p.Arg272His)
c.161G>A (p.Arg54His)
c.296G>A (p.Arg99His)
c.71G>A (p.Arg24His)
c.308G>A (p.Arg103His)
c.797G>A (p.Arg266His)
c.881G>A (p.Arg294His)
c.644G>A (p.Arg215His)
c.107+54G>A (n.107+54G>A)
n.928G>A
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
2g.232790800G>CCA351011041GIGYF2c.815G>C (p.Arg272Pro)
c.161G>C (p.Arg54Pro)
c.296G>C (p.Arg99Pro)
c.71G>C (p.Arg24Pro)
c.308G>C (p.Arg103Pro)
c.797G>C (p.Arg266Pro)
c.881G>C (p.Arg294Pro)
c.644G>C (p.Arg215Pro)
c.107+54G>C (n.107+54G>C)
n.928G>C
2g.232790800G=CA1335433304GIGYF2c.815G= (p.Arg272=)
c.161G= (p.Arg54=)
c.296G= (p.Arg99=)
c.71G= (p.Arg24=)
c.308G= (p.Arg103=)
c.797G= (p.Arg266=)
c.881G= (p.Arg294=)
c.644G= (p.Arg215=)
c.107+54G= (n.107+54G=)
n.928G=
2g.232790800G>TCA351011037GIGYF2c.815G>T (p.Arg272Leu)
c.161G>T (p.Arg54Leu)
c.296G>T (p.Arg99Leu)
c.71G>T (p.Arg24Leu)
c.308G>T (p.Arg103Leu)
c.797G>T (p.Arg266Leu)
c.881G>T (p.Arg294Leu)
c.644G>T (p.Arg215Leu)
c.107+54G>T (n.107+54G>T)
n.928G>T
 gnomAD v4
2g.232790801C>ACA2170199GIGYF2c.816C>A (p.Arg272=)
c.162C>A (p.Arg54=)
c.297C>A (p.Arg99=)
c.72C>A (p.Arg24=)
c.309C>A (p.Arg103=)
c.798C>A (p.Arg266=)
c.882C>A (p.Arg294=)
c.645C>A (p.Arg215=)
c.107+55C>A (n.107+55C>A)
n.929C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232790801C=CA1335433305GIGYF2c.816C= (p.Arg272=)
c.162C= (p.Arg54=)
c.297C= (p.Arg99=)
c.72C= (p.Arg24=)
c.309C= (p.Arg103=)
c.798C= (p.Arg266=)
c.882C= (p.Arg294=)
c.645C= (p.Arg215=)
c.107+55C= (n.107+55C=)
n.929C=
2g.232790801C>GCA431807798GIGYF2c.816C>G (p.Arg272=)
c.162C>G (p.Arg54=)
c.297C>G (p.Arg99=)
c.72C>G (p.Arg24=)
c.309C>G (p.Arg103=)
c.798C>G (p.Arg266=)
c.882C>G (p.Arg294=)
c.645C>G (p.Arg215=)
c.107+55C>G (n.107+55C>G)
n.929C>G
2g.232790801C>TCA431807800GIGYF2c.816C>T (p.Arg272=)
c.162C>T (p.Arg54=)
c.297C>T (p.Arg99=)
c.72C>T (p.Arg24=)
c.309C>T (p.Arg103=)
c.798C>T (p.Arg266=)
c.882C>T (p.Arg294=)
c.645C>T (p.Arg215=)
c.107+55C>T (n.107+55C>T)
n.929C>T
 gnomAD v4
2g.232790802T>ACA351011043GIGYF2c.817T>A (p.Ser273Thr)
c.163T>A (p.Ser55Thr)
c.298T>A (p.Ser100Thr)
c.73T>A (p.Ser25Thr)
c.310T>A (p.Ser104Thr)
c.799T>A (p.Ser267Thr)
c.883T>A (p.Ser295Thr)
c.646T>A (p.Ser216Thr)
c.107+56T>A (n.107+56T>A)
n.930T>A
 dbSNP gnomAD v4
2g.232790802T>CCA351011045GIGYF2c.817T>C (p.Ser273Pro)
c.163T>C (p.Ser55Pro)
c.298T>C (p.Ser100Pro)
c.73T>C (p.Ser25Pro)
c.310T>C (p.Ser104Pro)
c.799T>C (p.Ser267Pro)
c.883T>C (p.Ser295Pro)
c.646T>C (p.Ser216Pro)
c.107+56T>C (n.107+56T>C)
n.930T>C
 gnomAD v4
2g.232790802T>GCA351011047GIGYF2c.817T>G (p.Ser273Ala)
c.163T>G (p.Ser55Ala)
c.298T>G (p.Ser100Ala)
c.73T>G (p.Ser25Ala)
c.310T>G (p.Ser104Ala)
c.799T>G (p.Ser267Ala)
c.883T>G (p.Ser295Ala)
c.646T>G (p.Ser216Ala)
c.107+56T>G (n.107+56T>G)
n.930T>G
2g.232790802T=CA1335433306GIGYF2c.817T= (p.Ser273=)
c.163T= (p.Ser55=)
c.298T= (p.Ser100=)
c.73T= (p.Ser25=)
c.310T= (p.Ser104=)
c.799T= (p.Ser267=)
c.883T= (p.Ser295=)
c.646T= (p.Ser216=)
c.107+56T= (n.107+56T=)
n.930T=
2g.232790803C>ACA351011050GIGYF2c.818C>A (p.Ser273Tyr)
c.164C>A (p.Ser55Tyr)
c.299C>A (p.Ser100Tyr)
c.74C>A (p.Ser25Tyr)
c.311C>A (p.Ser104Tyr)
c.800C>A (p.Ser267Tyr)
c.884C>A (p.Ser295Tyr)
c.647C>A (p.Ser216Tyr)
c.107+57C>A (n.107+57C>A)
n.931C>A
2g.232790803C=CA1335433307GIGYF2c.818C= (p.Ser273=)
c.164C= (p.Ser55=)
c.299C= (p.Ser100=)
c.74C= (p.Ser25=)
c.311C= (p.Ser104=)
c.800C= (p.Ser267=)
c.884C= (p.Ser295=)
c.647C= (p.Ser216=)
c.107+57C= (n.107+57C=)
n.931C=
2g.232790803C>GCA2170201GIGYF2c.818C>G (p.Ser273Cys)
c.164C>G (p.Ser55Cys)
c.299C>G (p.Ser100Cys)
c.74C>G (p.Ser25Cys)
c.311C>G (p.Ser104Cys)
c.800C>G (p.Ser267Cys)
c.884C>G (p.Ser295Cys)
c.647C>G (p.Ser216Cys)
c.107+57C>G (n.107+57C>G)
n.931C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.232790803C>TCA2170200GIGYF2c.818C>T (p.Ser273Phe)
c.164C>T (p.Ser55Phe)
c.299C>T (p.Ser100Phe)
c.74C>T (p.Ser25Phe)
c.311C>T (p.Ser104Phe)
c.800C>T (p.Ser267Phe)
c.884C>T (p.Ser295Phe)
c.647C>T (p.Ser216Phe)
c.107+57C>T (n.107+57C>T)
n.931C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232790804T>ACA431807806GIGYF2c.819T>A (p.Ser273=)
c.165T>A (p.Ser55=)
c.300T>A (p.Ser100=)
c.75T>A (p.Ser25=)
c.312T>A (p.Ser104=)
c.801T>A (p.Ser267=)
c.885T>A (p.Ser295=)
c.648T>A (p.Ser216=)
c.107+58T>A (n.107+58T>A)
n.932T>A
 dbSNP gnomAD v2 gnomAD v4
2g.232790804T>CCA431807808GIGYF2c.819T>C (p.Ser273=)
c.165T>C (p.Ser55=)
c.300T>C (p.Ser100=)
c.75T>C (p.Ser25=)
c.312T>C (p.Ser104=)
c.801T>C (p.Ser267=)
c.885T>C (p.Ser295=)
c.648T>C (p.Ser216=)
c.107+58T>C (n.107+58T>C)
n.932T>C
2g.232790804T>GCA431807810GIGYF2c.819T>G (p.Ser273=)
c.165T>G (p.Ser55=)
c.300T>G (p.Ser100=)
c.75T>G (p.Ser25=)
c.312T>G (p.Ser104=)
c.801T>G (p.Ser267=)
c.885T>G (p.Ser295=)
c.648T>G (p.Ser216=)
c.107+58T>G (n.107+58T>G)
n.932T>G
2g.232790804T=CA1335433308GIGYF2c.819T= (p.Ser273=)
c.165T= (p.Ser55=)
c.300T= (p.Ser100=)
c.75T= (p.Ser25=)
c.312T= (p.Ser104=)
c.801T= (p.Ser267=)
c.885T= (p.Ser295=)
c.648T= (p.Ser216=)
c.107+58T= (n.107+58T=)
n.932T=
2g.232790805G>ACA351011052GIGYF2c.820G>A (p.Gly274Ser)
c.166G>A (p.Gly56Ser)
c.301G>A (p.Gly101Ser)
c.76G>A (p.Gly26Ser)
c.313G>A (p.Gly105Ser)
c.802G>A (p.Gly268Ser)
c.886G>A (p.Gly296Ser)
c.649G>A (p.Gly217Ser)
c.107+59G>A (n.107+59G>A)
n.933G>A
2g.232790805G>CCA351011053GIGYF2c.820G>C (p.Gly274Arg)
c.166G>C (p.Gly56Arg)
c.301G>C (p.Gly101Arg)
c.76G>C (p.Gly26Arg)
c.313G>C (p.Gly105Arg)
c.802G>C (p.Gly268Arg)
c.886G>C (p.Gly296Arg)
c.649G>C (p.Gly217Arg)
c.107+59G>C (n.107+59G>C)
n.933G>C
2g.232790805G>TCA351011055GIGYF2c.820G>T (p.Gly274Cys)
c.166G>T (p.Gly56Cys)
c.301G>T (p.Gly101Cys)
c.76G>T (p.Gly26Cys)
c.313G>T (p.Gly105Cys)
c.802G>T (p.Gly268Cys)
c.886G>T (p.Gly296Cys)
c.649G>T (p.Gly217Cys)
c.107+59G>T (n.107+59G>T)
n.933G>T
2g.232790806G>ACA351011058GIGYF2c.821G>A (p.Gly274Asp)
c.167G>A (p.Gly56Asp)
c.302G>A (p.Gly101Asp)
c.77G>A (p.Gly26Asp)
c.314G>A (p.Gly105Asp)
c.803G>A (p.Gly268Asp)
c.887G>A (p.Gly296Asp)
c.650G>A (p.Gly217Asp)
c.107+60G>A (n.107+60G>A)
n.934G>A
2g.232790806G>CCA351011060GIGYF2c.821G>C (p.Gly274Ala)
c.167G>C (p.Gly56Ala)
c.302G>C (p.Gly101Ala)
c.77G>C (p.Gly26Ala)
c.314G>C (p.Gly105Ala)
c.803G>C (p.Gly268Ala)
c.887G>C (p.Gly296Ala)
c.650G>C (p.Gly217Ala)
c.107+60G>C (n.107+60G>C)
n.934G>C
2g.232790806G>TCA351011062GIGYF2c.821G>T (p.Gly274Val)
c.167G>T (p.Gly56Val)
c.302G>T (p.Gly101Val)
c.77G>T (p.Gly26Val)
c.314G>T (p.Gly105Val)
c.803G>T (p.Gly268Val)
c.887G>T (p.Gly296Val)
c.650G>T (p.Gly217Val)
c.107+60G>T (n.107+60G>T)
n.934G>T
 gnomAD v4 COSMIC COSMIC COSMIC
2g.232790807C>ACA431807818GIGYF2c.822C>A (p.Gly274=)
c.168C>A (p.Gly56=)
c.303C>A (p.Gly101=)
c.78C>A (p.Gly26=)
c.315C>A (p.Gly105=)
c.804C>A (p.Gly268=)
c.888C>A (p.Gly296=)
c.651C>A (p.Gly217=)
c.107+61C>A (n.107+61C>A)
n.935C>A
2g.232790807C>GCA431807819GIGYF2c.822C>G (p.Gly274=)
c.168C>G (p.Gly56=)
c.303C>G (p.Gly101=)
c.78C>G (p.Gly26=)
c.315C>G (p.Gly105=)
c.804C>G (p.Gly268=)
c.888C>G (p.Gly296=)
c.651C>G (p.Gly217=)
c.107+61C>G (n.107+61C>G)
n.935C>G
2g.232790807C>TCA431807821GIGYF2c.822C>T (p.Gly274=)
c.168C>T (p.Gly56=)
c.303C>T (p.Gly101=)
c.78C>T (p.Gly26=)
c.315C>T (p.Gly105=)
c.804C>T (p.Gly268=)
c.888C>T (p.Gly296=)
c.651C>T (p.Gly217=)
c.107+61C>T (n.107+61C>T)
n.935C>T
2g.232790808A=CA1335433309GIGYF2c.823A= (p.Ser275=)
c.169A= (p.Ser57=)
c.304A= (p.Ser102=)
c.79A= (p.Ser27=)
c.316A= (p.Ser106=)
c.805A= (p.Ser269=)
c.889A= (p.Ser297=)
c.652A= (p.Ser218=)
c.107+62A= (n.107+62A=)
n.936A=
2g.232790808A>CCA2170203GIGYF2c.823A>C (p.Ser275Arg)
c.169A>C (p.Ser57Arg)
c.304A>C (p.Ser102Arg)
c.79A>C (p.Ser27Arg)
c.316A>C (p.Ser106Arg)
c.805A>C (p.Ser269Arg)
c.889A>C (p.Ser297Arg)
c.652A>C (p.Ser218Arg)
c.107+62A>C (n.107+62A>C)
n.936A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232790808A>GCA2170202GIGYF2c.823A>G (p.Ser275Gly)
c.169A>G (p.Ser57Gly)
c.304A>G (p.Ser102Gly)
c.79A>G (p.Ser27Gly)
c.316A>G (p.Ser106Gly)
c.805A>G (p.Ser269Gly)
c.889A>G (p.Ser297Gly)
c.652A>G (p.Ser218Gly)
c.107+62A>G (n.107+62A>G)
n.936A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232790808A>TCA351011065GIGYF2c.823A>T (p.Ser275Cys)
c.169A>T (p.Ser57Cys)
c.304A>T (p.Ser102Cys)
c.79A>T (p.Ser27Cys)
c.316A>T (p.Ser106Cys)
c.805A>T (p.Ser269Cys)
c.889A>T (p.Ser297Cys)
c.652A>T (p.Ser218Cys)
c.107+62A>T (n.107+62A>T)
n.936A>T
2g.232790809G>ACA351011068GIGYF2c.824G>A (p.Ser275Asn)
c.170G>A (p.Ser57Asn)
c.305G>A (p.Ser102Asn)
c.80G>A (p.Ser27Asn)
c.317G>A (p.Ser106Asn)
c.806G>A (p.Ser269Asn)
c.890G>A (p.Ser297Asn)
c.653G>A (p.Ser218Asn)
c.107+63G>A (n.107+63G>A)
n.937G>A
2g.232790809G>CCA351011070GIGYF2c.824G>C (p.Ser275Thr)
c.170G>C (p.Ser57Thr)
c.305G>C (p.Ser102Thr)
c.80G>C (p.Ser27Thr)
c.317G>C (p.Ser106Thr)
c.806G>C (p.Ser269Thr)
c.890G>C (p.Ser297Thr)
c.653G>C (p.Ser218Thr)
c.107+63G>C (n.107+63G>C)
n.937G>C
2g.232790809G=CA1335433310GIGYF2c.824G= (p.Ser275=)
c.170G= (p.Ser57=)
c.305G= (p.Ser102=)
c.80G= (p.Ser27=)
c.317G= (p.Ser106=)
c.806G= (p.Ser269=)
c.890G= (p.Ser297=)
c.653G= (p.Ser218=)
c.107+63G= (n.107+63G=)
n.937G=
2g.232790809G>TCA2170204GIGYF2c.824G>T (p.Ser275Ile)
c.170G>T (p.Ser57Ile)
c.305G>T (p.Ser102Ile)
c.80G>T (p.Ser27Ile)
c.317G>T (p.Ser106Ile)
c.806G>T (p.Ser269Ile)
c.890G>T (p.Ser297Ile)
c.653G>T (p.Ser218Ile)
c.107+63G>T (n.107+63G>T)
n.937G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232790810T>ACA351011072GIGYF2c.825T>A (p.Ser275Arg)
c.171T>A (p.Ser57Arg)
c.306T>A (p.Ser102Arg)
c.81T>A (p.Ser27Arg)
c.318T>A (p.Ser106Arg)
c.807T>A (p.Ser269Arg)
c.891T>A (p.Ser297Arg)
c.654T>A (p.Ser218Arg)
c.107+64T>A (n.107+64T>A)
n.938T>A
2g.232790810T>CCA431807832GIGYF2c.825T>C (p.Ser275=)
c.171T>C (p.Ser57=)
c.306T>C (p.Ser102=)
c.81T>C (p.Ser27=)
c.318T>C (p.Ser106=)
c.807T>C (p.Ser269=)
c.891T>C (p.Ser297=)
c.654T>C (p.Ser218=)
c.107+64T>C (n.107+64T>C)
n.938T>C
 gnomAD v4
2g.232790810T>GCA351011073GIGYF2c.825T>G (p.Ser275Arg)
c.171T>G (p.Ser57Arg)
c.306T>G (p.Ser102Arg)
c.81T>G (p.Ser27Arg)
c.318T>G (p.Ser106Arg)
c.807T>G (p.Ser269Arg)
c.891T>G (p.Ser297Arg)
c.654T>G (p.Ser218Arg)
c.107+64T>G (n.107+64T>G)
n.938T>G
2g.232790811G>ACA2170205GIGYF2c.826G>A (p.Gly276Arg)
c.172G>A (p.Gly58Arg)
c.307G>A (p.Gly103Arg)
c.82G>A (p.Gly28Arg)
c.319G>A (p.Gly107Arg)
c.808G>A (p.Gly270Arg)
c.892G>A (p.Gly298Arg)
c.655G>A (p.Gly219Arg)
c.107+65G>A (n.107+65G>A)
n.939G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232790811G>CCA351011074GIGYF2c.826G>C (p.Gly276Arg)
c.172G>C (p.Gly58Arg)
c.307G>C (p.Gly103Arg)
c.82G>C (p.Gly28Arg)
c.319G>C (p.Gly107Arg)
c.808G>C (p.Gly270Arg)
c.892G>C (p.Gly298Arg)
c.655G>C (p.Gly219Arg)
c.107+65G>C (n.107+65G>C)
n.939G>C
2g.232790811G=CA1335433311GIGYF2c.826G= (p.Gly276=)
c.172G= (p.Gly58=)
c.307G= (p.Gly103=)
c.82G= (p.Gly28=)
c.319G= (p.Gly107=)
c.808G= (p.Gly270=)
c.892G= (p.Gly298=)
c.655G= (p.Gly219=)
c.107+65G= (n.107+65G=)
n.939G=
2g.232790811G>TCA351011076GIGYF2c.826G>T (p.Gly276Trp)
c.172G>T (p.Gly58Trp)
c.307G>T (p.Gly103Trp)
c.82G>T (p.Gly28Trp)
c.319G>T (p.Gly107Trp)
c.808G>T (p.Gly270Trp)
c.892G>T (p.Gly298Trp)
c.655G>T (p.Gly219Trp)
c.107+65G>T (n.107+65G>T)
n.939G>T
2g.232790812G>ACA351011078GIGYF2c.827G>A (p.Gly276Glu)
c.173G>A (p.Gly58Glu)
c.308G>A (p.Gly103Glu)
c.83G>A (p.Gly28Glu)
c.320G>A (p.Gly107Glu)
c.809G>A (p.Gly270Glu)
c.893G>A (p.Gly298Glu)
c.656G>A (p.Gly219Glu)
c.107+66G>A (n.107+66G>A)
n.940G>A
 gnomAD v4
2g.232790812G>CCA351011080GIGYF2c.827G>C (p.Gly276Ala)
c.173G>C (p.Gly58Ala)
c.308G>C (p.Gly103Ala)
c.83G>C (p.Gly28Ala)
c.320G>C (p.Gly107Ala)
c.809G>C (p.Gly270Ala)
c.893G>C (p.Gly298Ala)
c.656G>C (p.Gly219Ala)
c.107+66G>C (n.107+66G>C)
n.940G>C
2g.232790812G>TCA351011082GIGYF2c.827G>T (p.Gly276Val)
c.173G>T (p.Gly58Val)
c.308G>T (p.Gly103Val)
c.83G>T (p.Gly28Val)
c.320G>T (p.Gly107Val)
c.809G>T (p.Gly270Val)
c.893G>T (p.Gly298Val)
c.656G>T (p.Gly219Val)
c.107+66G>T (n.107+66G>T)
n.940G>T
2g.232790813G>ACA431807842GIGYF2c.828G>A (p.Gly276=)
c.174G>A (p.Gly58=)
c.309G>A (p.Gly103=)
c.84G>A (p.Gly28=)
c.321G>A (p.Gly107=)
c.810G>A (p.Gly270=)
c.894G>A (p.Gly298=)
c.657G>A (p.Gly219=)
c.107+67G>A (n.107+67G>A)
n.941G>A
 gnomAD v4
2g.232790813G>CCA2170206GIGYF2c.828G>C (p.Gly276=)
c.174G>C (p.Gly58=)
c.309G>C (p.Gly103=)
c.84G>C (p.Gly28=)
c.321G>C (p.Gly107=)
c.810G>C (p.Gly270=)
c.894G>C (p.Gly298=)
c.657G>C (p.Gly219=)
c.107+67G>C (n.107+67G>C)
n.941G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.232790813G=CA1335433312GIGYF2c.828G= (p.Gly276=)
c.174G= (p.Gly58=)
c.309G= (p.Gly103=)
c.84G= (p.Gly28=)
c.321G= (p.Gly107=)
c.810G= (p.Gly270=)
c.894G= (p.Gly298=)
c.657G= (p.Gly219=)
c.107+67G= (n.107+67G=)
n.941G=
2g.232790813G>TCA431807840GIGYF2c.828G>T (p.Gly276=)
c.174G>T (p.Gly58=)
c.309G>T (p.Gly103=)
c.84G>T (p.Gly28=)
c.321G>T (p.Gly107=)
c.810G>T (p.Gly270=)
c.894G>T (p.Gly298=)
c.657G>T (p.Gly219=)
c.107+67G>T (n.107+67G>T)
n.941G>T
2g.232790814A>CCA351011091GIGYF2c.829A>C (p.Ser277Arg)
c.175A>C (p.Ser59Arg)
c.310A>C (p.Ser104Arg)
c.85A>C (p.Ser29Arg)
c.322A>C (p.Ser108Arg)
c.811A>C (p.Ser271Arg)
c.895A>C (p.Ser299Arg)
c.658A>C (p.Ser220Arg)
c.107+68A>C (n.107+68A>C)
n.942A>C
2g.232790814A>GCA351011088GIGYF2c.829A>G (p.Ser277Gly)
c.175A>G (p.Ser59Gly)
c.310A>G (p.Ser104Gly)
c.85A>G (p.Ser29Gly)
c.322A>G (p.Ser108Gly)
c.811A>G (p.Ser271Gly)
c.895A>G (p.Ser299Gly)
c.658A>G (p.Ser220Gly)
c.107+68A>G (n.107+68A>G)
n.942A>G
2g.232790814A>TCA351011087GIGYF2c.829A>T (p.Ser277Cys)
c.175A>T (p.Ser59Cys)
c.310A>T (p.Ser104Cys)
c.85A>T (p.Ser29Cys)
c.322A>T (p.Ser108Cys)
c.811A>T (p.Ser271Cys)
c.895A>T (p.Ser299Cys)
c.658A>T (p.Ser220Cys)
c.107+68A>T (n.107+68A>T)
n.942A>T
2g.232790815G>ACA351011097GIGYF2c.830G>A (p.Ser277Asn)
c.176G>A (p.Ser59Asn)
c.311G>A (p.Ser104Asn)
c.86G>A (p.Ser29Asn)
c.323G>A (p.Ser108Asn)
c.812G>A (p.Ser271Asn)
c.896G>A (p.Ser299Asn)
c.659G>A (p.Ser220Asn)
c.107+69G>A (n.107+69G>A)
n.943G>A
2g.232790815G>CCA351011094GIGYF2c.830G>C (p.Ser277Thr)
c.176G>C (p.Ser59Thr)
c.311G>C (p.Ser104Thr)
c.86G>C (p.Ser29Thr)
c.323G>C (p.Ser108Thr)
c.812G>C (p.Ser271Thr)
c.896G>C (p.Ser299Thr)
c.659G>C (p.Ser220Thr)
c.107+69G>C (n.107+69G>C)
n.943G>C
2g.232790815G>TCA351011096GIGYF2c.830G>T (p.Ser277Ile)
c.176G>T (p.Ser59Ile)
c.311G>T (p.Ser104Ile)
c.86G>T (p.Ser29Ile)
c.323G>T (p.Ser108Ile)
c.812G>T (p.Ser271Ile)
c.896G>T (p.Ser299Ile)
c.659G>T (p.Ser220Ile)
c.107+69G>T (n.107+69G>T)
n.943G>T
2g.232790816C>ACA351011100GIGYF2c.831C>A (p.Ser277Arg)
c.177C>A (p.Ser59Arg)
c.312C>A (p.Ser104Arg)
c.87C>A (p.Ser29Arg)
c.324C>A (p.Ser108Arg)
c.813C>A (p.Ser271Arg)
c.897C>A (p.Ser299Arg)
c.660C>A (p.Ser220Arg)
c.107+70C>A (n.107+70C>A)
n.944C>A
2g.232790816C>GCA351011102GIGYF2c.831C>G (p.Ser277Arg)
c.177C>G (p.Ser59Arg)
c.312C>G (p.Ser104Arg)
c.87C>G (p.Ser29Arg)
c.324C>G (p.Ser108Arg)
c.813C>G (p.Ser271Arg)
c.897C>G (p.Ser299Arg)
c.660C>G (p.Ser220Arg)
c.107+70C>G (n.107+70C>G)
n.944C>G
2g.232790816C>TCA431807849GIGYF2c.831C>T (p.Ser277=)
c.177C>T (p.Ser59=)
c.312C>T (p.Ser104=)
c.87C>T (p.Ser29=)
c.324C>T (p.Ser108=)
c.813C>T (p.Ser271=)
c.897C>T (p.Ser299=)
c.660C>T (p.Ser220=)
c.107+70C>T (n.107+70C>T)
n.944C>T
2g.232790817A=CA1335433313GIGYF2c.832A= (p.Ile278=)
c.178A= (p.Ile60=)
c.313A= (p.Ile105=)
c.88A= (p.Ile30=)
c.325A= (p.Ile109=)
c.814A= (p.Ile272=)
c.898A= (p.Ile300=)
c.661A= (p.Ile221=)
c.107+71A= (n.107+71A=)
n.945A=
2g.232790817A>CCA351011104GIGYF2c.832A>C (p.Ile278Leu)
c.178A>C (p.Ile60Leu)
c.313A>C (p.Ile105Leu)
c.88A>C (p.Ile30Leu)
c.325A>C (p.Ile109Leu)
c.814A>C (p.Ile272Leu)
c.898A>C (p.Ile300Leu)
c.661A>C (p.Ile221Leu)
c.107+71A>C (n.107+71A>C)
n.945A>C
2g.232790817A>GCA251595GIGYF2c.832A>G (p.Ile278Val)
c.178A>G (p.Ile60Val)
c.313A>G (p.Ile105Val)
c.88A>G (p.Ile30Val)
c.325A>G (p.Ile109Val)
c.814A>G (p.Ile272Val)
c.898A>G (p.Ile300Val)
c.661A>G (p.Ile221Val)
c.107+71A>G (n.107+71A>G)
n.945A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232790817A>TCA351011107GIGYF2c.832A>T (p.Ile278Leu)
c.178A>T (p.Ile60Leu)
c.313A>T (p.Ile105Leu)
c.88A>T (p.Ile30Leu)
c.325A>T (p.Ile109Leu)
c.814A>T (p.Ile272Leu)
c.898A>T (p.Ile300Leu)
c.661A>T (p.Ile221Leu)
c.107+71A>T (n.107+71A>T)
n.945A>T
2g.232790818T>ACA351011108GIGYF2c.833T>A (p.Ile278Lys)
c.179T>A (p.Ile60Lys)
c.314T>A (p.Ile105Lys)
c.89T>A (p.Ile30Lys)
c.326T>A (p.Ile109Lys)
c.815T>A (p.Ile272Lys)
c.899T>A (p.Ile300Lys)
c.662T>A (p.Ile221Lys)
c.107+72T>A (n.107+72T>A)
n.946T>A
2g.232790818T>CCA351011112GIGYF2c.833T>C (p.Ile278Thr)
c.179T>C (p.Ile60Thr)
c.314T>C (p.Ile105Thr)
c.89T>C (p.Ile30Thr)
c.326T>C (p.Ile109Thr)
c.815T>C (p.Ile272Thr)
c.899T>C (p.Ile300Thr)
c.662T>C (p.Ile221Thr)
c.107+72T>C (n.107+72T>C)
n.946T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232790818T>GCA351011110GIGYF2c.833T>G (p.Ile278Arg)
c.179T>G (p.Ile60Arg)
c.314T>G (p.Ile105Arg)
c.89T>G (p.Ile30Arg)
c.326T>G (p.Ile109Arg)
c.815T>G (p.Ile272Arg)
c.899T>G (p.Ile300Arg)
c.662T>G (p.Ile221Arg)
c.107+72T>G (n.107+72T>G)
n.946T>G
 gnomAD v4
2g.232790818T=CA1335433314GIGYF2c.833T= (p.Ile278=)
c.179T= (p.Ile60=)
c.314T= (p.Ile105=)
c.89T= (p.Ile30=)
c.326T= (p.Ile109=)
c.815T= (p.Ile272=)
c.899T= (p.Ile300=)
c.662T= (p.Ile221=)
c.107+72T= (n.107+72T=)
n.946T=
2g.232790819A>CCA431807856GIGYF2c.834A>C (p.Ile278=)
c.180A>C (p.Ile60=)
c.315A>C (p.Ile105=)
c.90A>C (p.Ile30=)
c.327A>C (p.Ile109=)
c.816A>C (p.Ile272=)
c.900A>C (p.Ile300=)
c.663A>C (p.Ile221=)
c.107+73A>C (n.107+73A>C)
n.947A>C
2g.232790819A>GCA351011114GIGYF2c.834A>G (p.Ile278Met)
c.180A>G (p.Ile60Met)
c.315A>G (p.Ile105Met)
c.90A>G (p.Ile30Met)
c.327A>G (p.Ile109Met)
c.816A>G (p.Ile272Met)
c.900A>G (p.Ile300Met)
c.663A>G (p.Ile221Met)
c.107+73A>G (n.107+73A>G)
n.947A>G
2g.232790819A>TCA431807857GIGYF2c.834A>T (p.Ile278=)
c.180A>T (p.Ile60=)
c.315A>T (p.Ile105=)
c.90A>T (p.Ile30=)
c.327A>T (p.Ile109=)
c.816A>T (p.Ile272=)
c.900A>T (p.Ile300=)
c.663A>T (p.Ile221=)
c.107+73A>T (n.107+73A>T)
n.947A>T
2g.232790820G>ACA351011116GIGYF2c.835G>A (p.Asp279Asn)
c.181G>A (p.Asp61Asn)
c.316G>A (p.Asp106Asn)
c.91G>A (p.Asp31Asn)
c.328G>A (p.Asp110Asn)
c.817G>A (p.Asp273Asn)
c.901G>A (p.Asp301Asn)
c.664G>A (p.Asp222Asn)
c.107+74G>A (n.107+74G>A)
n.948G>A
 gnomAD v4
2g.232790820G>CCA351011119GIGYF2c.835G>C (p.Asp279His)
c.181G>C (p.Asp61His)
c.316G>C (p.Asp106His)
c.91G>C (p.Asp31His)
c.328G>C (p.Asp110His)
c.817G>C (p.Asp273His)
c.901G>C (p.Asp301His)
c.664G>C (p.Asp222His)
c.107+74G>C (n.107+74G>C)
n.948G>C
2g.232790820G>TCA351011121GIGYF2c.835G>T (p.Asp279Tyr)
c.181G>T (p.Asp61Tyr)
c.316G>T (p.Asp106Tyr)
c.91G>T (p.Asp31Tyr)
c.328G>T (p.Asp110Tyr)
c.817G>T (p.Asp273Tyr)
c.901G>T (p.Asp301Tyr)
c.664G>T (p.Asp222Tyr)
c.107+74G>T (n.107+74G>T)
n.948G>T
2g.232790821A=CA1335433315GIGYF2c.836A= (p.Asp279=)
c.182A= (p.Asp61=)
c.317A= (p.Asp106=)
c.92A= (p.Asp31=)
c.329A= (p.Asp110=)
c.818A= (p.Asp273=)
c.902A= (p.Asp301=)
c.665A= (p.Asp222=)
c.107+75A= (n.107+75A=)
n.949A=
2g.232790821A>CCA351011126GIGYF2c.836A>C (p.Asp279Ala)
c.182A>C (p.Asp61Ala)
c.317A>C (p.Asp106Ala)
c.92A>C (p.Asp31Ala)
c.329A>C (p.Asp110Ala)
c.818A>C (p.Asp273Ala)
c.902A>C (p.Asp301Ala)
c.665A>C (p.Asp222Ala)
c.107+75A>C (n.107+75A>C)
n.949A>C
2g.232790821A>GCA2170207GIGYF2c.836A>G (p.Asp279Gly)
c.182A>G (p.Asp61Gly)
c.317A>G (p.Asp106Gly)
c.92A>G (p.Asp31Gly)
c.329A>G (p.Asp110Gly)
c.818A>G (p.Asp273Gly)
c.902A>G (p.Asp301Gly)
c.665A>G (p.Asp222Gly)
c.107+75A>G (n.107+75A>G)
n.949A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232790821A>TCA351011125GIGYF2c.836A>T (p.Asp279Val)
c.182A>T (p.Asp61Val)
c.317A>T (p.Asp106Val)
c.92A>T (p.Asp31Val)
c.329A>T (p.Asp110Val)
c.818A>T (p.Asp273Val)
c.902A>T (p.Asp301Val)
c.665A>T (p.Asp222Val)
c.107+75A>T (n.107+75A>T)
n.949A>T
2g.232790822T>ACA351011129GIGYF2c.837T>A (p.Asp279Glu)
c.183T>A (p.Asp61Glu)
c.318T>A (p.Asp106Glu)
c.93T>A (p.Asp31Glu)
c.330T>A (p.Asp110Glu)
c.819T>A (p.Asp273Glu)
c.903T>A (p.Asp301Glu)
c.666T>A (p.Asp222Glu)
c.107+76T>A (n.107+76T>A)
n.950T>A
2g.232790822T>CCA431807864GIGYF2c.837T>C (p.Asp279=)
c.183T>C (p.Asp61=)
c.318T>C (p.Asp106=)
c.93T>C (p.Asp31=)
c.330T>C (p.Asp110=)
c.819T>C (p.Asp273=)
c.903T>C (p.Asp301=)
c.666T>C (p.Asp222=)
c.107+76T>C (n.107+76T>C)
n.950T>C
2g.232790822T>GCA351011130GIGYF2c.837T>G (p.Asp279Glu)
c.183T>G (p.Asp61Glu)
c.318T>G (p.Asp106Glu)
c.93T>G (p.Asp31Glu)
c.330T>G (p.Asp110Glu)
c.819T>G (p.Asp273Glu)
c.903T>G (p.Asp301Glu)
c.666T>G (p.Asp222Glu)
c.107+76T>G (n.107+76T>G)
n.950T>G
2g.232790823G>ACA351011132GIGYF2c.838G>A (p.Asp280Asn)
c.184G>A (p.Asp62Asn)
c.319G>A (p.Asp107Asn)
c.94G>A (p.Asp32Asn)
c.331G>A (p.Asp111Asn)
c.820G>A (p.Asp274Asn)
c.904G>A (p.Asp302Asn)
c.667G>A (p.Asp223Asn)
c.107+77G>A (n.107+77G>A)
n.951G>A
2g.232790823G>CCA351011134GIGYF2c.838G>C (p.Asp280His)
c.184G>C (p.Asp62His)
c.319G>C (p.Asp107His)
c.94G>C (p.Asp32His)
c.331G>C (p.Asp111His)
c.820G>C (p.Asp274His)
c.904G>C (p.Asp302His)
c.667G>C (p.Asp223His)
c.107+77G>C (n.107+77G>C)
n.951G>C
 dbSNP
2g.232790823G=CA1335433316GIGYF2c.838G= (p.Asp280=)
c.184G= (p.Asp62=)
c.319G= (p.Asp107=)
c.94G= (p.Asp32=)
c.331G= (p.Asp111=)
c.820G= (p.Asp274=)
c.904G= (p.Asp302=)
c.667G= (p.Asp223=)
c.107+77G= (n.107+77G=)
n.951G=
2g.232790823G>TCA351011135GIGYF2c.838G>T (p.Asp280Tyr)
c.184G>T (p.Asp62Tyr)
c.319G>T (p.Asp107Tyr)
c.94G>T (p.Asp32Tyr)
c.331G>T (p.Asp111Tyr)
c.820G>T (p.Asp274Tyr)
c.904G>T (p.Asp302Tyr)
c.667G>T (p.Asp223Tyr)
c.107+77G>T (n.107+77G>T)
n.951G>T
2g.232790824A>CCA351011138GIGYF2c.839A>C (p.Asp280Ala)
c.185A>C (p.Asp62Ala)
c.320A>C (p.Asp107Ala)
c.95A>C (p.Asp32Ala)
c.332A>C (p.Asp111Ala)
c.821A>C (p.Asp274Ala)
c.905A>C (p.Asp302Ala)
c.668A>C (p.Asp223Ala)
c.107+78A>C (n.107+78A>C)
n.952A>C
2g.232790824A>GCA351011139GIGYF2c.839A>G (p.Asp280Gly)
c.185A>G (p.Asp62Gly)
c.320A>G (p.Asp107Gly)
c.95A>G (p.Asp32Gly)
c.332A>G (p.Asp111Gly)
c.821A>G (p.Asp274Gly)
c.905A>G (p.Asp302Gly)
c.668A>G (p.Asp223Gly)
c.107+78A>G (n.107+78A>G)
n.952A>G
 gnomAD v4
2g.232790824A>TCA351011142GIGYF2c.839A>T (p.Asp280Val)
c.185A>T (p.Asp62Val)
c.320A>T (p.Asp107Val)
c.95A>T (p.Asp32Val)
c.332A>T (p.Asp111Val)
c.821A>T (p.Asp274Val)
c.905A>T (p.Asp302Val)
c.668A>T (p.Asp223Val)
c.107+78A>T (n.107+78A>T)
n.952A>T

Number of alleles fetched