Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.232790717C>A | CA431807540 | GIGYF2 | c.732C>A (p.Gly244=) c.78C>A (p.Gly26=) c.213C>A (p.Gly71=) c.-13C>A (n.-13C>A) c.225C>A (p.Gly75=) c.714C>A (p.Gly238=) c.798C>A (p.Gly266=) c.561C>A (p.Gly187=) n.845C>A | |
2 | g.232790717C>G | CA431807543 | GIGYF2 | c.732C>G (p.Gly244=) c.78C>G (p.Gly26=) c.213C>G (p.Gly71=) c.-13C>G (n.-13C>G) c.225C>G (p.Gly75=) c.714C>G (p.Gly238=) c.798C>G (p.Gly266=) c.561C>G (p.Gly187=) n.845C>G | |
2 | g.232790717C>T | CA431807541 | GIGYF2 | c.732C>T (p.Gly244=) c.78C>T (p.Gly26=) c.213C>T (p.Gly71=) c.-13C>T (n.-13C>T) c.225C>T (p.Gly75=) c.714C>T (p.Gly238=) c.798C>T (p.Gly266=) c.561C>T (p.Gly187=) n.845C>T | |
2 | g.232790718T>A | CA351010806 | GIGYF2 | c.733T>A (p.Trp245Arg) c.79T>A (p.Trp27Arg) c.214T>A (p.Trp72Arg) c.-12T>A (n.-12T>A) c.226T>A (p.Trp76Arg) c.715T>A (p.Trp239Arg) c.799T>A (p.Trp267Arg) c.562T>A (p.Trp188Arg) n.846T>A | |
2 | g.232790718T>C | CA351010804 | GIGYF2 | c.733T>C (p.Trp245Arg) c.79T>C (p.Trp27Arg) c.214T>C (p.Trp72Arg) c.-12T>C (n.-12T>C) c.226T>C (p.Trp76Arg) c.715T>C (p.Trp239Arg) c.799T>C (p.Trp267Arg) c.562T>C (p.Trp188Arg) n.846T>C | |
2 | g.232790718T>G | CA351010805 | GIGYF2 | c.733T>G (p.Trp245Gly) c.79T>G (p.Trp27Gly) c.214T>G (p.Trp72Gly) c.-12T>G (n.-12T>G) c.226T>G (p.Trp76Gly) c.715T>G (p.Trp239Gly) c.799T>G (p.Trp267Gly) c.562T>G (p.Trp188Gly) n.846T>G | |
2 | g.232790719G>A | CA351010807 | GIGYF2 | c.734G>A (p.Trp245Ter) c.80G>A (p.Trp27Ter) c.215G>A (p.Trp72Ter) c.-11G>A (n.-11G>A) c.227G>A (p.Trp76Ter) c.716G>A (p.Trp239Ter) c.800G>A (p.Trp267Ter) c.563G>A (p.Trp188Ter) n.847G>A | |
2 | g.232790719G>C | CA351010808 | GIGYF2 | c.734G>C (p.Trp245Ser) c.80G>C (p.Trp27Ser) c.215G>C (p.Trp72Ser) c.-11G>C (n.-11G>C) c.227G>C (p.Trp76Ser) c.716G>C (p.Trp239Ser) c.800G>C (p.Trp267Ser) c.563G>C (p.Trp188Ser) n.847G>C | dbSNP |
2 | g.232790719G= | CA1335433269 | GIGYF2 | c.734G= (p.Trp245=) c.80G= (p.Trp27=) c.215G= (p.Trp72=) c.-11G= (n.-11G=) c.227G= (p.Trp76=) c.716G= (p.Trp239=) c.800G= (p.Trp267=) c.563G= (p.Trp188=) n.847G= | |
2 | g.232790719G>T | CA351010809 | GIGYF2 | c.734G>T (p.Trp245Leu) c.80G>T (p.Trp27Leu) c.215G>T (p.Trp72Leu) c.-11G>T (n.-11G>T) c.227G>T (p.Trp76Leu) c.716G>T (p.Trp239Leu) c.800G>T (p.Trp267Leu) c.563G>T (p.Trp188Leu) n.847G>T | |
2 | g.232790720G>A | CA351010810 | GIGYF2 | c.735G>A (p.Trp245Ter) c.81G>A (p.Trp27Ter) c.216G>A (p.Trp72Ter) c.-10G>A (n.-10G>A) c.228G>A (p.Trp76Ter) c.717G>A (p.Trp239Ter) c.801G>A (p.Trp267Ter) c.564G>A (p.Trp188Ter) n.848G>A | |
2 | g.232790720G>C | CA351010811 | GIGYF2 | c.735G>C (p.Trp245Cys) c.81G>C (p.Trp27Cys) c.216G>C (p.Trp72Cys) c.-10G>C (n.-10G>C) c.228G>C (p.Trp76Cys) c.717G>C (p.Trp239Cys) c.801G>C (p.Trp267Cys) c.564G>C (p.Trp188Cys) n.848G>C | |
2 | g.232790720G>T | CA351010812 | GIGYF2 | c.735G>T (p.Trp245Cys) c.81G>T (p.Trp27Cys) c.216G>T (p.Trp72Cys) c.-10G>T (n.-10G>T) c.228G>T (p.Trp76Cys) c.717G>T (p.Trp239Cys) c.801G>T (p.Trp267Cys) c.564G>T (p.Trp188Cys) n.848G>T | |
2 | g.232790721C>A | CA431807551 | GIGYF2 | c.736C>A (p.Arg246=) c.82C>A (p.Arg28=) c.217C>A (p.Arg73=) c.-9C>A (n.-9C>A) c.229C>A (p.Arg77=) c.718C>A (p.Arg240=) c.802C>A (p.Arg268=) c.565C>A (p.Arg189=) n.849C>A | |
2 | g.232790721C>G | CA351010814 | GIGYF2 | c.736C>G (p.Arg246Gly) c.82C>G (p.Arg28Gly) c.217C>G (p.Arg73Gly) c.-9C>G (n.-9C>G) c.229C>G (p.Arg77Gly) c.718C>G (p.Arg240Gly) c.802C>G (p.Arg268Gly) c.565C>G (p.Arg189Gly) n.849C>G | |
2 | g.232790721C>T | CA351010813 | GIGYF2 | c.736C>T (p.Arg246Trp) c.82C>T (p.Arg28Trp) c.217C>T (p.Arg73Trp) c.-9C>T (n.-9C>T) c.229C>T (p.Arg77Trp) c.718C>T (p.Arg240Trp) c.802C>T (p.Arg268Trp) c.565C>T (p.Arg189Trp) n.849C>T | |
2 | g.232790722G>A | CA351010815 | GIGYF2 | c.737G>A (p.Arg246Gln) c.83G>A (p.Arg28Gln) c.218G>A (p.Arg73Gln) c.-8G>A (n.-8G>A) c.230G>A (p.Arg77Gln) c.719G>A (p.Arg240Gln) c.803G>A (p.Arg268Gln) c.566G>A (p.Arg189Gln) n.850G>A | gnomAD v4 |
2 | g.232790722G>C | CA2170186 | GIGYF2 | c.737G>C (p.Arg246Pro) c.83G>C (p.Arg28Pro) c.218G>C (p.Arg73Pro) c.-8G>C (n.-8G>C) c.230G>C (p.Arg77Pro) c.719G>C (p.Arg240Pro) c.803G>C (p.Arg268Pro) c.566G>C (p.Arg189Pro) n.850G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232790722G= | CA1335433270 | GIGYF2 | c.737G= (p.Arg246=) c.83G= (p.Arg28=) c.218G= (p.Arg73=) c.-8G= (n.-8G=) c.230G= (p.Arg77=) c.719G= (p.Arg240=) c.803G= (p.Arg268=) c.566G= (p.Arg189=) n.850G= | |
2 | g.232790722G>T | CA351010816 | GIGYF2 | c.737G>T (p.Arg246Leu) c.83G>T (p.Arg28Leu) c.218G>T (p.Arg73Leu) c.-8G>T (n.-8G>T) c.230G>T (p.Arg77Leu) c.719G>T (p.Arg240Leu) c.803G>T (p.Arg268Leu) c.566G>T (p.Arg189Leu) n.850G>T | |
2 | g.232790723G>A | CA431807557 | GIGYF2 | c.738G>A (p.Arg246=) c.84G>A (p.Arg28=) c.219G>A (p.Arg73=) c.-7G>A (n.-7G>A) c.231G>A (p.Arg77=) c.720G>A (p.Arg240=) c.804G>A (p.Arg268=) c.567G>A (p.Arg189=) n.851G>A | gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.232790723G>C | CA431807558 | GIGYF2 | c.738G>C (p.Arg246=) c.84G>C (p.Arg28=) c.219G>C (p.Arg73=) c.-7G>C (n.-7G>C) c.231G>C (p.Arg77=) c.720G>C (p.Arg240=) c.804G>C (p.Arg268=) c.567G>C (p.Arg189=) n.851G>C | |
2 | g.232790723G>T | CA431807561 | GIGYF2 | c.738G>T (p.Arg246=) c.84G>T (p.Arg28=) c.219G>T (p.Arg73=) c.-7G>T (n.-7G>T) c.231G>T (p.Arg77=) c.720G>T (p.Arg240=) c.804G>T (p.Arg268=) c.567G>T (p.Arg189=) n.851G>T | |
2 | g.232790724G>A | CA351010817 | GIGYF2 | c.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 | |
2 | g.232790724G>C | CA351010818 | GIGYF2 | c.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 | |
2 | g.232790724G>T | CA351010819 | GIGYF2 | c.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 | |
2 | g.232790725A= | CA1335433271 | GIGYF2 | c.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= | |
2 | g.232790725A>C | CA351010820 | GIGYF2 | c.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 | |
2 | g.232790725A>G | CA351010821 | GIGYF2 | c.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 |
2 | g.232790725A>T | CA2170187 | GIGYF2 | c.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 |
2 | g.232790726A>C | CA351010822 | GIGYF2 | c.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 | |
2 | g.232790726A>G | CA431807568 | GIGYF2 | c.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 | |
2 | g.232790726A>T | CA351010823 | GIGYF2 | c.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 | |
2 | g.232790727C>A | CA351010824 | GIGYF2 | c.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 | |
2 | g.232790727C= | CA1335433272 | GIGYF2 | c.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= | |
2 | g.232790727C>G | CA351010825 | GIGYF2 | c.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 | |
2 | g.232790727C>T | CA351010826 | GIGYF2 | c.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 |
2 | g.232790728A>C | CA351010827 | GIGYF2 | c.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 | |
2 | g.232790728A>G | CA351010828 | GIGYF2 | c.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 | |
2 | g.232790728A>T | CA351010829 | GIGYF2 | c.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 | |
2 | g.232790729C>A | CA351010830 | GIGYF2 | c.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 | |
2 | g.232790729C= | CA1335433273 | GIGYF2 | c.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= | |
2 | g.232790729C>G | CA351010831 | GIGYF2 | c.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 | |
2 | g.232790729C>T | CA2170188 | GIGYF2 | c.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 |
2 | g.232790730A>C | CA351010832 | GIGYF2 | c.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 | |
2 | g.232790730A>G | CA351010834 | GIGYF2 | c.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 | |
2 | g.232790730A>T | CA351010833 | GIGYF2 | c.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 | |
2 | g.232790731T>A | CA351010835 | GIGYF2 | c.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 | |
2 | g.232790731T>C | CA351010837 | GIGYF2 | c.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 |
2 | g.232790731T>G | CA351010836 | GIGYF2 | c.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 | |
2 | g.232790731T= | CA1335433274 | GIGYF2 | c.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= | |
2 | g.232790732G>A | CA351010838 | GIGYF2 | c.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 |
2 | g.232790732G>C | CA351010839 | GIGYF2 | c.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 |
2 | g.232790732G>T | CA351010840 | GIGYF2 | c.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 | |
2 | g.232790733G>A | CA351010841 | GIGYF2 | c.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 | |
2 | g.232790733G>C | CA351010842 | GIGYF2 | c.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 | |
2 | g.232790733G>T | CA351010843 | GIGYF2 | c.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 | |
2 | g.232790734A>C | CA351010844 | GIGYF2 | c.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 | |
2 | g.232790734A>G | CA351010845 | GIGYF2 | c.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 | |
2 | g.232790734A>T | CA351010846 | GIGYF2 | c.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 | |
2 | g.232790735A= | CA1335433275 | GIGYF2 | c.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= | |
2 | g.232790735A>C | CA351010847 | GIGYF2 | c.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 |
2 | g.232790735A>G | CA431807595 | GIGYF2 | c.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 | |
2 | g.232790735A>T | CA351010848 | GIGYF2 | c.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 | |
2 | g.232790736C>A | CA431807597 | GIGYF2 | c.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 | |
2 | g.232790736C= | CA1335433276 | GIGYF2 | c.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= | |
2 | g.232790736C>G | CA351010849 | GIGYF2 | c.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 | |
2 | g.232790736C>T | CA66994371 | GIGYF2 | c.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 |
2 | g.232790737G>A | CA351010850 | GIGYF2 | c.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 |
2 | g.232790737G>C | CA351010852 | GIGYF2 | c.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 | |
2 | g.232790737G= | CA1335433277 | GIGYF2 | c.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= | |
2 | g.232790737G>T | CA351010851 | GIGYF2 | c.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 | |
2 | g.232790738A= | CA1335433278 | GIGYF2 | c.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= | |
2 | g.232790738A>C | CA431807605 | GIGYF2 | c.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 |
2 | g.232790738A>G | CA431807604 | GIGYF2 | c.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 | |
2 | g.232790738A>T | CA431807602 | GIGYF2 | c.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 |
2 | g.232790739C>A | CA351010853 | GIGYF2 | c.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 | |
2 | g.232790739C= | CA1335433279 | GIGYF2 | c.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= | |
2 | g.232790739C>G | CA351010854 | GIGYF2 | c.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 | |
2 | g.232790739C>T | CA2170189 | GIGYF2 | c.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 |
2 | g.232790740G>A | CA351010855 | GIGYF2 | c.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 |
2 | g.232790740G>C | CA351010856 | GIGYF2 | c.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 | |
2 | g.232790740G= | CA1335433280 | GIGYF2 | c.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= | |
2 | g.232790740G>T | CA351010857 | GIGYF2 | c.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 |
2 | g.232790741T>A | CA431807607 | GIGYF2 | c.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 | |
2 | g.232790741T>C | CA431807609 | GIGYF2 | c.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 |
2 | g.232790741T>G | CA431807610 | GIGYF2 | c.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 | |
2 | g.232790742C>A | CA431807613 | GIGYF2 | c.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 | |
2 | g.232790742C= | CA1335433281 | GIGYF2 | c.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= | |
2 | g.232790742C>G | CA351010858 | GIGYF2 | c.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 | |
2 | g.232790742C>T | CA2170190 | GIGYF2 | c.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 |
2 | g.232790743G>A | CA2170191 | GIGYF2 | c.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 |
2 | g.232790743G>C | CA351010859 | GIGYF2 | c.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 | |
2 | g.232790743G= | CA1335433282 | GIGYF2 | c.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= | |
2 | g.232790743G>T | CA351010860 | GIGYF2 | c.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 | |
2 | g.232790744G>A | CA431807624 | GIGYF2 | c.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 | |
2 | g.232790744G>C | CA431807626 | GIGYF2 | c.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 | |
2 | g.232790744G>T | CA431807628 | GIGYF2 | c.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 | |
2 | g.232790745A>C | CA431807629 | GIGYF2 | c.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 | |
2 | g.232790745A>G | CA351010862 | GIGYF2 | c.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 | |
2 | g.232790745A>T | CA351010861 | GIGYF2 | c.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 | |
2 | g.232790746G>A | CA351010863 | GIGYF2 | c.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 |
2 | g.232790746G>C | CA351010864 | GIGYF2 | c.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 | |
2 | g.232790746G>T | CA351010865 | GIGYF2 | c.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 | |
2 | g.232790747G>A | CA431807634 | GIGYF2 | c.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 | |
2 | g.232790747G>C | CA351010866 | GIGYF2 | c.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 | |
2 | g.232790747G>T | CA351010867 | GIGYF2 | c.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 |
2 | g.232790753_232790758dup | CA2663643163 | GIGYF2 | c.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 |
2 | g.232790748T>A | CA351010868 | GIGYF2 | c.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 |
2 | g.232790748T>C | CA351010869 | GIGYF2 | c.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 |
2 | g.232790748T>G | CA351010870 | GIGYF2 | c.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 |
2 | g.232790748T= | CA1335433283 | GIGYF2 | c.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= | |
2 | g.232790749T>A | CA351010871 | GIGYF2 | c.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 |
2 | g.232790749T>C | CA351010872 | GIGYF2 | c.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 | |
2 | g.232790749T>G | CA351010873 | GIGYF2 | c.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 |
2 | g.232790749T= | CA1335433284 | GIGYF2 | c.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= | |
2 | g.232790750T>A | CA351010874 | GIGYF2 | c.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 | |
2 | g.232790750T>C | CA431807644 | GIGYF2 | c.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 |
2 | g.232790750T>G | CA351010875 | GIGYF2 | c.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 | |
2 | g.232790751G>A | CA351010878 | GIGYF2 | c.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 | |
2 | g.232790751G>C | CA351010877 | GIGYF2 | c.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 |
2 | g.232790751G= | CA1335433285 | GIGYF2 | c.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= | |
2 | g.232790751G>T | CA351010876 | GIGYF2 | c.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 | |
2 | g.232790752A>C | CA351010879 | GIGYF2 | c.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 | |
2 | g.232790752A>G | CA351010880 | GIGYF2 | c.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 | |
2 | g.232790752A>T | CA351010881 | GIGYF2 | c.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 | |
2 | g.232790753G>A | CA431807651 | GIGYF2 | c.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 |
2 | g.232790753G>C | CA351010882 | GIGYF2 | c.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 | |
2 | g.232790753G= | CA1335433286 | GIGYF2 | c.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= | |
2 | g.232790753G>T | CA351010883 | GIGYF2 | c.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 | |
2 | g.232790754T>A | CA351010884 | GIGYF2 | c.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 | |
2 | g.232790754T>C | CA351010885 | GIGYF2 | c.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 | |
2 | g.232790754T>G | CA351010886 | GIGYF2 | c.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 |
2 | g.232790754T= | CA1335433287 | GIGYF2 | c.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= | |
2 | g.232790755T>A | CA351010887 | GIGYF2 | c.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 | |
2 | g.232790755T>C | CA351010888 | GIGYF2 | c.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 | |
2 | g.232790755T>G | CA351010889 | GIGYF2 | c.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 | |
2 | g.232790756T>A | CA351010890 | GIGYF2 | c.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 | |
2 | g.232790756T>C | CA431807660 | GIGYF2 | c.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 | |
2 | g.232790756T>G | CA351010891 | GIGYF2 | c.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 |
2 | g.232790756T= | CA1335433288 | GIGYF2 | c.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= | |
2 | g.232790757G>A | CA351010893 | GIGYF2 | c.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 | |
2 | g.232790757G>C | CA351010894 | GIGYF2 | c.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 | |
2 | g.232790757G>T | CA351010892 | GIGYF2 | c.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 |
2 | g.232790758A>C | CA351010895 | GIGYF2 | c.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 | |
2 | g.232790758A>G | CA351010896 | GIGYF2 | c.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 |
2 | g.232790758A>T | CA351010897 | GIGYF2 | c.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 | |
2 | g.232790759T>A | CA351010898 | GIGYF2 | c.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 | |
2 | g.232790759T>C | CA431807665 | GIGYF2 | c.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 | |
2 | g.232790759T>G | CA351010899 | GIGYF2 | c.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 | |
2 | g.232790760T>A | CA351010900 | GIGYF2 | c.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 | |
2 | g.232790760T>C | CA351010901 | GIGYF2 | c.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 | |
2 | g.232790760T>G | CA351010902 | GIGYF2 | c.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 |
2 | g.232790761T>A | CA351010903 | GIGYF2 | c.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 | |
2 | g.232790761T>C | CA351010905 | GIGYF2 | c.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 | |
2 | g.232790761T>G | CA351010904 | GIGYF2 | c.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 | |
2 | g.232790762T>A | CA351010906 | GIGYF2 | c.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 | |
2 | g.232790762T>C | CA431807672 | GIGYF2 | c.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 | |
2 | g.232790762T>G | CA351010907 | GIGYF2 | c.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 | |
2 | g.232790763C>A | CA431807674 | GIGYF2 | c.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 | |
2 | g.232790763C>G | CA351010908 | GIGYF2 | c.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 | |
2 | g.232790763C>T | CA351010909 | GIGYF2 | c.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 |
2 | g.232790764G>A | CA351010910 | GIGYF2 | c.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 |
2 | g.232790764G>C | CA351010912 | GIGYF2 | c.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 | |
2 | g.232790764G>T | CA351010911 | GIGYF2 | c.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 | |
2 | g.232790765A>C | CA431807680 | GIGYF2 | c.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 | |
2 | g.232790765A>G | CA431807682 | GIGYF2 | c.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 |
2 | g.232790765A>T | CA431807683 | GIGYF2 | c.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 | |
2 | g.232790766G>A | CA351010913 | GIGYF2 | c.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 | |
2 | g.232790766G>C | CA351010914 | GIGYF2 | c.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 | |
2 | g.232790766G= | CA1335433289 | GIGYF2 | c.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= | |
2 | g.232790766G>T | CA351010915 | GIGYF2 | c.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 |
2 | g.232790767A= | CA1335433290 | GIGYF2 | c.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= | |
2 | g.232790767A>C | CA351010916 | GIGYF2 | c.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 | |
2 | g.232790767A>G | CA2170192 | GIGYF2 | c.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 |
2 | g.232790767A>T | CA351010917 | GIGYF2 | c.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 | |
2 | g.232790768T>A | CA351010918 | GIGYF2 | c.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 |
2 | g.232790768T>C | CA2170193 | GIGYF2 | c.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 |
2 | g.232790768T>G | CA351010919 | GIGYF2 | c.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 | |
2 | g.232790768T= | CA1335433291 | GIGYF2 | c.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= | |
2 | g.232790769A= | CA1335433292 | GIGYF2 | c.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= | |
2 | g.232790769A>C | CA431807695 | GIGYF2 | c.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 |
2 | g.232790769A>G | CA351010920 | GIGYF2 | c.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 |
2 | g.232790769A>T | CA351010921 | GIGYF2 | c.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 | |
2 | g.232790770G>A | CA351010923 | GIGYF2 | c.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 | |
2 | g.232790770G>C | CA351010927 | GIGYF2 | c.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 | |
2 | g.232790770G>T | CA351010925 | GIGYF2 | c.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 | |
2 | g.232790771A>C | CA351010928 | GIGYF2 | c.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 | |
2 | g.232790771A>G | CA431807700 | GIGYF2 | c.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 |
2 | g.232790771A>T | CA351010929 | GIGYF2 | c.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 | |
2 | g.232790772G>A | CA351010932 | GIGYF2 | c.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 | |
2 | g.232790772G>C | CA351010933 | GIGYF2 | c.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 | |
2 | g.232790772G>T | CA351010935 | GIGYF2 | c.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 | |
2 | g.232790773A= | CA1335433293 | GIGYF2 | c.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= | |
2 | g.232790773A>C | CA351010937 | GIGYF2 | c.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 | |
2 | g.232790773A>G | CA351010938 | GIGYF2 | c.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 |
2 | g.232790773A>T | CA2170194 | GIGYF2 | c.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 |
2 | g.232790774T>A | CA66994372 | GIGYF2 | c.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 |
2 | g.232790774T>C | CA431807706 | GIGYF2 | c.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 | |
2 | g.232790774T>G | CA351010941 | GIGYF2 | c.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 | |
2 | g.232790774T= | CA1335433294 | GIGYF2 | c.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= | |
2 | g.232790775G>A | CA351010942 | GIGYF2 | c.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 | |
2 | g.232790775G>C | CA351010944 | GIGYF2 | c.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 | |
2 | g.232790775G>T | CA351010945 | GIGYF2 | c.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 | |
2 | g.232790776A>C | CA351010948 | GIGYF2 | c.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 | |
2 | g.232790776A>G | CA351010951 | GIGYF2 | c.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 | |
2 | g.232790776A>T | CA351010949 | GIGYF2 | c.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 | |
2 | g.232790777T>A | CA351010952 | GIGYF2 | c.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 | |
2 | g.232790777T>C | CA2170195 | GIGYF2 | c.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 |
2 | g.232790777T>G | CA351010954 | GIGYF2 | c.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 |
2 | g.232790777T= | CA1335433295 | GIGYF2 | c.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= | |
2 | g.232790778G>A | CA351010956 | GIGYF2 | c.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 |
2 | g.232790778G>C | CA351010958 | GIGYF2 | c.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 | |
2 | g.232790778G= | CA1335433296 | GIGYF2 | c.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= | |
2 | g.232790778G>T | CA351010959 | GIGYF2 | c.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 | |
2 | g.232790779A>C | CA351010961 | GIGYF2 | c.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 | |
2 | g.232790779A>G | CA351010963 | GIGYF2 | c.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 | |
2 | g.232790779A>T | CA351010965 | GIGYF2 | c.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 | |
2 | g.232790780A>C | CA351010967 | GIGYF2 | c.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 | |
2 | g.232790780A>G | CA431807720 | GIGYF2 | c.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 |
2 | g.232790780A>T | CA351010969 | GIGYF2 | c.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 | |
2 | g.232790781C>A | CA431807723 | GIGYF2 | c.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 | |
2 | g.232790781C= | CA1335433297 | GIGYF2 | c.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= | |
2 | g.232790781C>G | CA351010972 | GIGYF2 | c.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 | |
2 | g.232790781C>T | CA2170196 | GIGYF2 | c.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 |
2 | g.232790782G>A | CA2170197 | GIGYF2 | c.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 |
2 | g.232790782G>C | CA351010976 | GIGYF2 | c.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 | |
2 | g.232790782G= | CA1335433298 | GIGYF2 | c.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= | |
2 | g.232790782G>T | CA351010974 | GIGYF2 | c.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 | |
2 | g.232790783G>A | CA431807730 | GIGYF2 | c.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 | |
2 | g.232790783G>C | CA431807733 | GIGYF2 | c.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 | |
2 | g.232790783G>T | CA431807731 | GIGYF2 | c.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 | |
2 | g.232790784G>A | CA351010978 | GIGYF2 | c.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 | |
2 | g.232790784G>C | CA351010981 | GIGYF2 | c.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 | |
2 | g.232790784G>T | CA351010980 | GIGYF2 | c.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 | |
2 | g.232790785G>A | CA351010983 | GIGYF2 | c.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 | |
2 | g.232790785G>C | CA351010987 | GIGYF2 | c.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 |
2 | g.232790785G>T | CA351010985 | GIGYF2 | c.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 |
2 | g.232790786T>A | CA431807738 | GIGYF2 | c.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 | |
2 | g.232790786T>C | CA431807739 | GIGYF2 | c.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 | |
2 | g.232790786T>G | CA431807741 | GIGYF2 | c.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 | |
2 | g.232790787T>A | CA351010988 | GIGYF2 | c.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 | |
2 | g.232790787T>C | CA351010990 | GIGYF2 | c.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 | |
2 | g.232790787T>G | CA351010989 | GIGYF2 | c.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 | |
2 | g.232790788A>C | CA351010993 | GIGYF2 | c.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 | |
2 | g.232790788A>G | CA351010996 | GIGYF2 | c.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 | |
2 | g.232790788A>T | CA351010995 | GIGYF2 | c.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 | |
2 | g.232790789C>A | CA351010998 | GIGYF2 | c.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 | |
2 | g.232790789C>G | CA351011000 | GIGYF2 | c.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 | |
2 | g.232790789C>T | CA431807750 | GIGYF2 | c.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 |
2 | g.232790790C>A | CA431807751 | GIGYF2 | c.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 | |
2 | g.232790790C= | CA1335433299 | GIGYF2 | c.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= | |
2 | g.232790790C>G | CA351011002 | GIGYF2 | c.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 | |
2 | g.232790790C>T | CA351011003 | GIGYF2 | c.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 |
2 | g.232790791G>A | CA351011005 | GIGYF2 | c.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 |
2 | g.232790791G>C | CA351011007 | GIGYF2 | c.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 |
2 | g.232790791G= | CA1335433300 | GIGYF2 | c.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= | |
2 | g.232790791G>T | CA351011008 | GIGYF2 | c.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 |
2 | g.232790792A>C | CA431807758 | GIGYF2 | c.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 | |
2 | g.232790792A>G | CA431807760 | GIGYF2 | c.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 | |
2 | g.232790792A>T | CA431807761 | GIGYF2 | c.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 | |
2 | g.232790793A>C | CA431807763 | GIGYF2 | c.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 | |
2 | g.232790793A>G | CA351011010 | GIGYF2 | c.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 | |
2 | g.232790793A>T | CA351011012 | GIGYF2 | c.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 | |
2 | g.232790794G>A | CA351011018 | GIGYF2 | c.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 | |
2 | g.232790794G>C | CA351011016 | GIGYF2 | c.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 | |
2 | g.232790794G>T | CA351011014 | GIGYF2 | c.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 | |
2 | g.232790795G>A | CA431807771 | GIGYF2 | c.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 |
2 | g.232790795G>C | CA351011019 | GIGYF2 | c.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 | |
2 | g.232790795G= | CA1335433301 | GIGYF2 | c.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= | |
2 | g.232790795G>T | CA66994373 | GIGYF2 | c.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 |
2 | g.232790796G>A | CA351011022 | GIGYF2 | c.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 | |
2 | g.232790796G>C | CA351011024 | GIGYF2 | c.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 | |
2 | g.232790796G>T | CA351011025 | GIGYF2 | c.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 | |
2 | g.232790797T>A | CA351011027 | GIGYF2 | c.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 | |
2 | g.232790797T>C | CA351011029 | GIGYF2 | c.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 |
2 | g.232790797T>G | CA351011031 | GIGYF2 | c.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 | |
2 | g.232790797T= | CA1335433302 | GIGYF2 | c.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= | |
2 | g.232790798T>A | CA431807781 | GIGYF2 | c.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 | |
2 | g.232790798T>C | CA431807783 | GIGYF2 | c.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 | |
2 | g.232790798T>G | CA431807789 | GIGYF2 | c.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 | |
2 | g.232790799C>A | CA351011032 | GIGYF2 | c.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 | |
2 | g.232790799C= | CA1335433303 | GIGYF2 | c.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= | |
2 | g.232790799C>G | CA351011034 | GIGYF2 | c.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 | |
2 | g.232790799C>T | CA2170198 | GIGYF2 | c.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 |
2 | g.232790800G>A | CA351011039 | GIGYF2 | c.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 |
2 | g.232790800G>C | CA351011041 | GIGYF2 | c.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 | |
2 | g.232790800G= | CA1335433304 | GIGYF2 | c.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= | |
2 | g.232790800G>T | CA351011037 | GIGYF2 | c.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 |
2 | g.232790801C>A | CA2170199 | GIGYF2 | c.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 |
2 | g.232790801C= | CA1335433305 | GIGYF2 | c.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= | |
2 | g.232790801C>G | CA431807798 | GIGYF2 | c.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 | |
2 | g.232790801C>T | CA431807800 | GIGYF2 | c.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 |
2 | g.232790802T>A | CA351011043 | GIGYF2 | c.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 |
2 | g.232790802T>C | CA351011045 | GIGYF2 | c.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 |
2 | g.232790802T>G | CA351011047 | GIGYF2 | c.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 | |
2 | g.232790802T= | CA1335433306 | GIGYF2 | c.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= | |
2 | g.232790803C>A | CA351011050 | GIGYF2 | c.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 | |
2 | g.232790803C= | CA1335433307 | GIGYF2 | c.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= | |
2 | g.232790803C>G | CA2170201 | GIGYF2 | c.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 |
2 | g.232790803C>T | CA2170200 | GIGYF2 | c.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 |
2 | g.232790804T>A | CA431807806 | GIGYF2 | c.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 |
2 | g.232790804T>C | CA431807808 | GIGYF2 | c.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 | |
2 | g.232790804T>G | CA431807810 | GIGYF2 | c.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 | |
2 | g.232790804T= | CA1335433308 | GIGYF2 | c.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= | |
2 | g.232790805G>A | CA351011052 | GIGYF2 | c.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 | |
2 | g.232790805G>C | CA351011053 | GIGYF2 | c.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 | |
2 | g.232790805G>T | CA351011055 | GIGYF2 | c.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 | |
2 | g.232790806G>A | CA351011058 | GIGYF2 | c.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 | |
2 | g.232790806G>C | CA351011060 | GIGYF2 | c.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 | |
2 | g.232790806G>T | CA351011062 | GIGYF2 | c.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 |
2 | g.232790807C>A | CA431807818 | GIGYF2 | c.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 | |
2 | g.232790807C>G | CA431807819 | GIGYF2 | c.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 | |
2 | g.232790807C>T | CA431807821 | GIGYF2 | c.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 | |
2 | g.232790808A= | CA1335433309 | GIGYF2 | c.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= | |
2 | g.232790808A>C | CA2170203 | GIGYF2 | c.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 |
2 | g.232790808A>G | CA2170202 | GIGYF2 | c.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 |
2 | g.232790808A>T | CA351011065 | GIGYF2 | c.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 | |
2 | g.232790809G>A | CA351011068 | GIGYF2 | c.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 | |
2 | g.232790809G>C | CA351011070 | GIGYF2 | c.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 | |
2 | g.232790809G= | CA1335433310 | GIGYF2 | c.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= | |
2 | g.232790809G>T | CA2170204 | GIGYF2 | c.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 |
2 | g.232790810T>A | CA351011072 | GIGYF2 | c.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 | |
2 | g.232790810T>C | CA431807832 | GIGYF2 | c.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 |
2 | g.232790810T>G | CA351011073 | GIGYF2 | c.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 | |
2 | g.232790811G>A | CA2170205 | GIGYF2 | c.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 |
2 | g.232790811G>C | CA351011074 | GIGYF2 | c.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 | |
2 | g.232790811G= | CA1335433311 | GIGYF2 | c.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= | |
2 | g.232790811G>T | CA351011076 | GIGYF2 | c.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 | |
2 | g.232790812G>A | CA351011078 | GIGYF2 | c.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 |
2 | g.232790812G>C | CA351011080 | GIGYF2 | c.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 | |
2 | g.232790812G>T | CA351011082 | GIGYF2 | c.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 | |
2 | g.232790813G>A | CA431807842 | GIGYF2 | c.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 |
2 | g.232790813G>C | CA2170206 | GIGYF2 | c.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 |
2 | g.232790813G= | CA1335433312 | GIGYF2 | c.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= | |
2 | g.232790813G>T | CA431807840 | GIGYF2 | c.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 | |
2 | g.232790814A>C | CA351011091 | GIGYF2 | c.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 | |
2 | g.232790814A>G | CA351011088 | GIGYF2 | c.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 | |
2 | g.232790814A>T | CA351011087 | GIGYF2 | c.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 | |
2 | g.232790815G>A | CA351011097 | GIGYF2 | c.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 | |
2 | g.232790815G>C | CA351011094 | GIGYF2 | c.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 | |
2 | g.232790815G>T | CA351011096 | GIGYF2 | c.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 | |
2 | g.232790816C>A | CA351011100 | GIGYF2 | c.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 | |
2 | g.232790816C>G | CA351011102 | GIGYF2 | c.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 | |
2 | g.232790816C>T | CA431807849 | GIGYF2 | c.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 | |
2 | g.232790817A= | CA1335433313 | GIGYF2 | c.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= | |
2 | g.232790817A>C | CA351011104 | GIGYF2 | c.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 | |
2 | g.232790817A>G | CA251595 | GIGYF2 | c.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 |
2 | g.232790817A>T | CA351011107 | GIGYF2 | c.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 |