| 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 |