UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.54446185A= | CA2430182809 | FGD1,TSR2 | c.2810T= (p.Met937=) c.*1635A= (n.*1635A=) | |
| X | g.54446185A>C | CA413357835 | FGD1,TSR2 | c.2810T>G (p.Met937Arg) c.*1635A>C (n.*1635A>C) | |
| X | g.54446185A>G | CA10424893 | FGD1,TSR2 | c.2810T>C (p.Met937Thr) c.*1635A>G (n.*1635A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.54446185A>T | CA413357836 | FGD1,TSR2 | c.2810T>A (p.Met937Lys) c.*1635A>T (n.*1635A>T) | |
| X | g.54446186T>A | CA413357837 | FGD1,TSR2 | c.2809A>T (p.Met937Leu) c.*1636T>A (n.*1636T>A) | |
| X | g.54446186T>C | CA413357838 | FGD1,TSR2 | c.2809A>G (p.Met937Val) c.*1636T>C (n.*1636T>C) | |
| X | g.54446186T>G | CA413357839 | FGD1,TSR2 | c.2809A>C (p.Met937Leu) c.*1636T>G (n.*1636T>G) | |
| X | g.54446187C>A | CA413357840 | FGD1,TSR2 | c.2808G>T (p.Glu936Asp) c.*1637C>A (n.*1637C>A) | |
| X | g.54446187C>G | CA413357841 | FGD1,TSR2 | c.2808G>C (p.Glu936Asp) c.*1637C>G (n.*1637C>G) | |
| X | g.54446187C>T | CA516697889 | FGD1,TSR2 | c.2808G>A (p.Glu936=) c.*1637C>T (n.*1637C>T) | |
| X | g.54446188T>A | CA413357842 | FGD1,TSR2 | c.2807A>T (p.Glu936Val) c.*1638T>A (n.*1638T>A) | |
| X | g.54446188T>C | CA413357844 | FGD1,TSR2 | c.2807A>G (p.Glu936Gly) c.*1638T>C (n.*1638T>C) | |
| X | g.54446188T>G | CA413357843 | FGD1,TSR2 | c.2807A>C (p.Glu936Ala) c.*1638T>G (n.*1638T>G) | |
| X | g.54446189C>A | CA413357845 | FGD1,TSR2 | c.2806G>T (p.Glu936Ter) c.*1639C>A (n.*1639C>A) | |
| X | g.54446189C>G | CA413357846 | FGD1,TSR2 | c.2806G>C (p.Glu936Gln) c.*1639C>G (n.*1639C>G) | |
| X | g.54446189C>T | CA413357847 | FGD1,TSR2 | c.2806G>A (p.Glu936Lys) c.*1639C>T (n.*1639C>T) | |
| X | g.54446190C>A | CA413357848 | FGD1,TSR2 | c.2805G>T (p.Arg935Ser) c.*1640C>A (n.*1640C>A) | |
| X | g.54446190C= | CA2430182810 | FGD1,TSR2 | c.2805G= (p.Arg935=) c.*1640C= (n.*1640C=) | |
| X | g.54446190C>G | CA10424894 | FGD1,TSR2 | c.2805G>C (p.Arg935Ser) c.*1640C>G (n.*1640C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.54446190C>T | CA516697893 | FGD1,TSR2 | c.2805G>A (p.Arg935=) c.*1640C>T (n.*1640C>T) | ClinVar dbSNP |
| X | g.54446191C>A | CA413357849 | FGD1,TSR2 | c.2804G>T (p.Arg935Met) c.*1641C>A (n.*1641C>A) | |
| X | g.54446191C>G | CA413357851 | FGD1,TSR2 | c.2804G>C (p.Arg935Thr) c.*1641C>G (n.*1641C>G) | |
| X | g.54446191C>T | CA413357850 | FGD1,TSR2 | c.2804G>A (p.Arg935Lys) c.*1641C>T (n.*1641C>T) | |
| X | g.54446192T>A | CA413357852 | FGD1,TSR2 | c.2803A>T (p.Arg935Trp) c.*1642T>A (n.*1642T>A) | |
| X | g.54446192T>C | CA413357853 | FGD1,TSR2 | c.2803A>G (p.Arg935Gly) c.*1642T>C (n.*1642T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.54446192T>G | CA516697894 | FGD1,TSR2 | c.2803A>C (p.Arg935=) c.*1642T>G (n.*1642T>G) | |
| X | g.54446192T= | CA2430182811 | FGD1,TSR2 | c.2803A= (p.Arg935=) c.*1642T= (n.*1642T=) | |
| X | g.54446193G>A | CA516697896 | FGD1,TSR2 | c.2802C>T (p.Asp934=) c.*1643G>A (n.*1643G>A) | dbSNP gnomAD v4 |
| X | g.54446193G>C | CA413357854 | FGD1,TSR2 | c.2802C>G (p.Asp934Glu) c.*1643G>C (n.*1643G>C) | |
| X | g.54446193G= | CA2430182812 | FGD1,TSR2 | c.2802C= (p.Asp934=) c.*1643G= (n.*1643G=) | |
| X | g.54446193G>T | CA413357855 | FGD1,TSR2 | c.2802C>A (p.Asp934Glu) c.*1643G>T (n.*1643G>T) | |
| X | g.54446193_54446196delinsGTCC | CA2430182813 | FGD1,TSR2 | c.2799_2802delinsGGAC (p.Glu933=) c.*1643_*1646delinsGTCC (n.*1643_*1646delinsGTCC) | |
| X | g.54446194T>A | CA413357856 | FGD1,TSR2 | c.2801A>T (p.Asp934Val) c.*1644T>A (n.*1644T>A) | |
| X | g.54446194T>C | CA413357857 | FGD1,TSR2 | c.2801A>G (p.Asp934Gly) c.*1644T>C (n.*1644T>C) | |
| X | g.54446194T>G | CA413357858 | FGD1,TSR2 | c.2801A>C (p.Asp934Ala) c.*1644T>G (n.*1644T>G) | |
| X | g.54446196_54446198del | CA2430182814 | FGD1,TSR2 | c.2799_2801del (p.Glu933del) c.*1646_*1648del (n.*1646_*1648del) | dbSNP |
| X | g.54446195C>A | CA413357859 | FGD1,TSR2 | c.2800G>T (p.Asp934Tyr) c.*1645C>A (n.*1645C>A) | |
| X | g.54446195C>G | CA413357860 | FGD1,TSR2 | c.2800G>C (p.Asp934His) c.*1645C>G (n.*1645C>G) | |
| X | g.54446195C>T | CA413357861 | FGD1,TSR2 | c.2800G>A (p.Asp934Asn) c.*1645C>T (n.*1645C>T) | gnomAD v4 |
| X | g.54446196C>A | CA413357862 | FGD1,TSR2 | c.2799G>T (p.Glu933Asp) c.*1646C>A (n.*1646C>A) | |
| X | g.54446196C= | CA2430182815 | FGD1,TSR2 | c.2799G= (p.Glu933=) c.*1646C= (n.*1646C=) | |
| X | g.54446196C>G | CA413357863 | FGD1,TSR2 | c.2799G>C (p.Glu933Asp) c.*1646C>G (n.*1646C>G) | |
| X | g.54446196C>T | CA516697897 | FGD1,TSR2 | c.2799G>A (p.Glu933=) c.*1646C>T (n.*1646C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.54446197T>A | CA413357864 | FGD1,TSR2 | c.2798A>T (p.Glu933Val) c.*1647T>A (n.*1647T>A) | |
| X | g.54446197T>C | CA413357866 | FGD1,TSR2 | c.2798A>G (p.Glu933Gly) c.*1647T>C (n.*1647T>C) | |
| X | g.54446197T>G | CA413357865 | FGD1,TSR2 | c.2798A>C (p.Glu933Ala) c.*1647T>G (n.*1647T>G) | |
| X | g.54446198C>A | CA413357867 | FGD1,TSR2 | c.2797G>T (p.Glu933Ter) c.*1648C>A (n.*1648C>A) | |
| X | g.54446198C= | CA2430182816 | FGD1,TSR2 | c.2797G= (p.Glu933=) c.*1648C= (n.*1648C=) | |
| X | g.54446198C>G | CA413357868 | FGD1,TSR2 | c.2797G>C (p.Glu933Gln) c.*1648C>G (n.*1648C>G) | |
| X | g.54446198C>T | CA329088192 | FGD1,TSR2 | c.2797G>A (p.Glu933Lys) c.*1648C>T (n.*1648C>T) | dbSNP |
| X | g.54446201_54446204del | CA2580612331 | FGD1,TSR2 | c.2794_2797del (p.Ser932ArgfsTer13) c.*1651_*1654del (n.*1651_*1654del) | ClinVar |
| X | g.54446199A>C | CA516697899 | FGD1,TSR2 | c.2796T>G (p.Ser932=) c.*1649A>C (n.*1649A>C) | |
| X | g.54446199A>G | CA516697900 | FGD1,TSR2 | c.2796T>C (p.Ser932=) c.*1649A>G (n.*1649A>G) | gnomAD v4 |
| X | g.54446199A>T | CA516697901 | FGD1,TSR2 | c.2796T>A (p.Ser932=) c.*1649A>T (n.*1649A>T) | |
| X | g.54446199dup | CA2693843678 | FGD1,TSR2 | c.2796dup (p.Glu933Ter) c.*1649dup (n.*1649dup) | gnomAD v4 |
| X | g.54446200G>A | CA413357869 | FGD1,TSR2 | c.2795C>T (p.Ser932Phe) c.*1650G>A (n.*1650G>A) | |
| X | g.54446200G>C | CA413357870 | FGD1,TSR2 | c.2795C>G (p.Ser932Cys) c.*1650G>C (n.*1650G>C) | |
| X | g.54446200G>T | CA413357871 | FGD1,TSR2 | c.2795C>A (p.Ser932Tyr) c.*1650G>T (n.*1650G>T) | |
| X | g.54446201A>C | CA413357874 | FGD1,TSR2 | c.2794T>G (p.Ser932Ala) c.*1651A>C (n.*1651A>C) | |
| X | g.54446201A>G | CA413357872 | FGD1,TSR2 | c.2794T>C (p.Ser932Pro) c.*1651A>G (n.*1651A>G) | |
| X | g.54446201A>T | CA413357873 | FGD1,TSR2 | c.2794T>A (p.Ser932Thr) c.*1651A>T (n.*1651A>T) | |
| X | g.54446202C>A | CA516697902 | FGD1,TSR2 | c.2793G>T (p.Leu931=) c.*1652C>A (n.*1652C>A) | |
| X | g.54446202C>G | CA516697903 | FGD1,TSR2 | c.2793G>C (p.Leu931=) c.*1652C>G (n.*1652C>G) | |
| X | g.54446202C>T | CA516697904 | FGD1,TSR2 | c.2793G>A (p.Leu931=) c.*1652C>T (n.*1652C>T) | gnomAD v4 |
| X | g.54446203A>C | CA413357875 | FGD1,TSR2 | c.2792T>G (p.Leu931Arg) c.*1653A>C (n.*1653A>C) | gnomAD v4 |
| X | g.54446203A>G | CA413357876 | FGD1,TSR2 | c.2792T>C (p.Leu931Pro) c.*1653A>G (n.*1653A>G) | |
| X | g.54446203A>T | CA413357877 | FGD1,TSR2 | c.2792T>A (p.Leu931Gln) c.*1653A>T (n.*1653A>T) | |
| X | g.54446204G>A | CA516697907 | FGD1,TSR2 | c.2791C>T (p.Leu931=) c.*1654G>A (n.*1654G>A) | |
| X | g.54446204G>C | CA413357878 | FGD1,TSR2 | c.2791C>G (p.Leu931Val) c.*1654G>C (n.*1654G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.54446204G= | CA2430182817 | FGD1,TSR2 | c.2791C= (p.Leu931=) c.*1654G= (n.*1654G=) | |
| X | g.54446204G>T | CA413357879 | FGD1,TSR2 | c.2791C>A (p.Leu931Met) c.*1654G>T (n.*1654G>T) | |
| X | g.54446207_54446208del | CA2693843679 | FGD1,TSR2 | c.2790_2791del (p.Leu931ValfsTer2) c.*1657_*1658del (n.*1657_*1658del) | gnomAD v4 |
| X | g.54446205T>A | CA516697908 | FGD1,TSR2 | c.2790A>T (p.Thr930=) c.*1655T>A (n.*1655T>A) | |
| X | g.54446205T>C | CA516697909 | FGD1,TSR2 | c.2790A>G (p.Thr930=) c.*1655T>C (n.*1655T>C) | dbSNP gnomAD v4 |
| X | g.54446205T>G | CA516697910 | FGD1,TSR2 | c.2790A>C (p.Thr930=) c.*1655T>G (n.*1655T>G) | |
| X | g.54446205T= | CA2430182818 | FGD1,TSR2 | c.2790A= (p.Thr930=) c.*1655T= (n.*1655T=) | |
| X | g.54446206G>A | CA413357880 | FGD1,TSR2 | c.2789C>T (p.Thr930Ile) c.*1656G>A (n.*1656G>A) | dbSNP gnomAD v4 |
| X | g.54446206G>C | CA413357882 | FGD1,TSR2 | c.2789C>G (p.Thr930Arg) c.*1656G>C (n.*1656G>C) | |
| X | g.54446206G= | CA2430182819 | FGD1,TSR2 | c.2789C= (p.Thr930=) c.*1656G= (n.*1656G=) | |
| X | g.54446206G>T | CA413357881 | FGD1,TSR2 | c.2789C>A (p.Thr930Lys) c.*1656G>T (n.*1656G>T) | |
| X | g.54446207T>A | CA413357883 | FGD1,TSR2 | c.2788A>T (p.Thr930Ser) c.*1657T>A (n.*1657T>A) | |
| X | g.54446207T>C | CA413357884 | FGD1,TSR2 | c.2788A>G (p.Thr930Ala) c.*1657T>C (n.*1657T>C) | |
| X | g.54446207T>G | CA413357885 | FGD1,TSR2 | c.2788A>C (p.Thr930Pro) c.*1657T>G (n.*1657T>G) | |
| X | g.54446208G>A | CA10424895 | FGD1,TSR2 | c.2787C>T (p.Pro929=) c.*1658G>A (n.*1658G>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.54446208G>C | CA516697913 | FGD1,TSR2 | c.2787C>G (p.Pro929=) c.*1658G>C (n.*1658G>C) | |
| X | g.54446208G= | CA2430182820 | FGD1,TSR2 | c.2787C= (p.Pro929=) c.*1658G= (n.*1658G=) | |
| X | g.54446208G>T | CA516697911 | FGD1,TSR2 | c.2787C>A (p.Pro929=) c.*1658G>T (n.*1658G>T) | |
| X | g.54446209G>A | CA233984 | FGD1,TSR2 | c.2786C>T (p.Pro929Leu) c.*1659G>A (n.*1659G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.54446209G>C | CA413357886 | FGD1,TSR2 | c.2786C>G (p.Pro929Arg) c.*1659G>C (n.*1659G>C) | |
| X | g.54446209G= | CA2430182821 | FGD1,TSR2 | c.2786C= (p.Pro929=) c.*1659G= (n.*1659G=) | |
| X | g.54446209G>T | CA413357887 | FGD1,TSR2 | c.2786C>A (p.Pro929His) c.*1659G>T (n.*1659G>T) | |
| X | g.54446210G>A | CA413357888 | FGD1,TSR2 | c.2785C>T (p.Pro929Ser) c.*1660G>A (n.*1660G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.54446210G>C | CA413357889 | FGD1,TSR2 | c.2785C>G (p.Pro929Ala) c.*1660G>C (n.*1660G>C) | |
| X | g.54446210G= | CA2430182822 | FGD1,TSR2 | c.2785C= (p.Pro929=) c.*1660G= (n.*1660G=) | |
| X | g.54446210G>T | CA413357890 | FGD1,TSR2 | c.2785C>A (p.Pro929Thr) c.*1660G>T (n.*1660G>T) | |
| X | g.54446211C>A | CA516697917 | FGD1,TSR2 | c.2784G>T (p.Gly928=) c.*1661C>A (n.*1661C>A) | |
| X | g.54446211C>G | CA516697915 | FGD1,TSR2 | c.2784G>C (p.Gly928=) c.*1661C>G (n.*1661C>G) | |
| X | g.54446211C>T | CA516697916 | FGD1,TSR2 | c.2784G>A (p.Gly928=) c.*1661C>T (n.*1661C>T) | gnomAD v4 COSMIC |
| X | g.54446212C>A | CA413357891 | FGD1,TSR2 | c.2783G>T (p.Gly928Val) c.*1662C>A (n.*1662C>A) | |
| X | g.54446212C>G | CA413357893 | FGD1,TSR2 | c.2783G>C (p.Gly928Ala) c.*1662C>G (n.*1662C>G) | |
| X | g.54446212C>T | CA413357892 | FGD1,TSR2 | c.2783G>A (p.Gly928Glu) c.*1662C>T (n.*1662C>T) | |
| X | g.54446213C>A | CA413357894 | FGD1,TSR2 | c.2782G>T (p.Gly928Trp) c.*1663C>A (n.*1663C>A) | |
| X | g.54446213C>G | CA413357895 | FGD1,TSR2 | c.2782G>C (p.Gly928Arg) c.*1663C>G (n.*1663C>G) | |
| X | g.54446213C>T | CA413357896 | FGD1,TSR2 | c.2782G>A (p.Gly928Arg) c.*1663C>T (n.*1663C>T) | |
| X | g.54446214C>A | CA516697922 | FGD1,TSR2 | c.2781G>T (p.Pro927=) c.*1664C>A (n.*1664C>A) | |
| X | g.54446214C= | CA2430182823 | FGD1,TSR2 | c.2781G= (p.Pro927=) c.*1664C= (n.*1664C=) | |
| X | g.54446214C>G | CA516697923 | FGD1,TSR2 | c.2781G>C (p.Pro927=) c.*1664C>G (n.*1664C>G) | |
| X | g.54446214C>T | CA10424896 | FGD1,TSR2 | c.2781G>A (p.Pro927=) c.*1664C>T (n.*1664C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.54446215G>A | CA10424897 | FGD1,TSR2 | c.2780C>T (p.Pro927Leu) c.*1665G>A (n.*1665G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.54446215G>C | CA413357897 | FGD1,TSR2 | c.2780C>G (p.Pro927Arg) c.*1665G>C (n.*1665G>C) | |
| X | g.54446215G= | CA2430182824 | FGD1,TSR2 | c.2780C= (p.Pro927=) c.*1665G= (n.*1665G=) | |
| X | g.54446215G>T | CA413357898 | FGD1,TSR2 | c.2780C>A (p.Pro927Gln) c.*1665G>T (n.*1665G>T) | |
| X | g.54446217dup | CA641899293 | FGD1,TSR2 | c.2780dup (p.Pro929AlafsTer5) c.*1667dup (n.*1667dup) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.54446216G>A | CA413357901 | FGD1,TSR2 | c.2779C>T (p.Pro927Ser) c.*1666G>A (n.*1666G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.54446216G>C | CA413357899 | FGD1,TSR2 | c.2779C>G (p.Pro927Ala) c.*1666G>C (n.*1666G>C) | |
| X | g.54446216G= | CA2430182825 | FGD1,TSR2 | c.2779C= (p.Pro927=) c.*1666G= (n.*1666G=) | |
| X | g.54446216G>T | CA413357900 | FGD1,TSR2 | c.2779C>A (p.Pro927Thr) c.*1666G>T (n.*1666G>T) | |
| X | g.54446219_54446236dup | CA2693843680 | FGD1,TSR2 | c.2762_2779dup (p.Cys926_Pro927insArgGlyAspThrPheCys) c.*1669_*1686dup (n.*1669_*1686dup) | gnomAD v4 |
| X | g.54446217G>A | CA516697927 | FGD1,TSR2 | c.2778C>T (p.Cys926=) c.*1667G>A (n.*1667G>A) | |
| X | g.54446217G>C | CA413357902 | FGD1,TSR2 | c.2778C>G (p.Cys926Trp) c.*1667G>C (n.*1667G>C) | |
| X | g.54446217G>T | CA413357903 | FGD1,TSR2 | c.2778C>A (p.Cys926Ter) c.*1667G>T (n.*1667G>T) | |
| X | g.54446218C>A | CA413357904 | FGD1,TSR2 | c.2777G>T (p.Cys926Phe) c.*1668C>A (n.*1668C>A) | |
| X | g.54446218C= | CA2430182826 | FGD1,TSR2 | c.2777G= (p.Cys926=) c.*1668C= (n.*1668C=) | |
| X | g.54446218C>G | CA413357905 | FGD1,TSR2 | c.2777G>C (p.Cys926Ser) c.*1668C>G (n.*1668C>G) | |
| X | g.54446218C>T | CA413357906 | FGD1,TSR2 | c.2777G>A (p.Cys926Tyr) c.*1668C>T (n.*1668C>T) | dbSNP gnomAD v4 |
| X | g.54446219A>C | CA413357907 | FGD1,TSR2 | c.2776T>G (p.Cys926Gly) c.*1669A>C (n.*1669A>C) | |
| X | g.54446219A>G | CA413357909 | FGD1,TSR2 | c.2776T>C (p.Cys926Arg) c.*1669A>G (n.*1669A>G) | |
| X | g.54446219A>T | CA413357908 | FGD1,TSR2 | c.2776T>A (p.Cys926Ser) c.*1669A>T (n.*1669A>T) | |
| X | g.54446220G>A | CA516697932 | FGD1,TSR2 | c.2775C>T (p.Phe925=) c.*1670G>A (n.*1670G>A) | |
| X | g.54446220G>C | CA413357910 | FGD1,TSR2 | c.2775C>G (p.Phe925Leu) c.*1670G>C (n.*1670G>C) | |
| X | g.54446220G>T | CA413357911 | FGD1,TSR2 | c.2775C>A (p.Phe925Leu) c.*1670G>T (n.*1670G>T) | |
| X | g.54446221A>C | CA413357912 | FGD1,TSR2 | c.2774T>G (p.Phe925Cys) c.*1671A>C (n.*1671A>C) | |
| X | g.54446221A>G | CA413357913 | FGD1,TSR2 | c.2774T>C (p.Phe925Ser) c.*1671A>G (n.*1671A>G) | |
| X | g.54446221A>T | CA413357914 | FGD1,TSR2 | c.2774T>A (p.Phe925Tyr) c.*1671A>T (n.*1671A>T) | |
| X | g.54446222A= | CA2430182827 | FGD1,TSR2 | c.2773T= (p.Phe925=) c.*1672A= (n.*1672A=) | |
| X | g.54446222A>C | CA413357915 | FGD1,TSR2 | c.2773T>G (p.Phe925Val) c.*1672A>C (n.*1672A>C) | ClinVar dbSNP gnomAD v4 |
| X | g.54446222A>G | CA413357916 | FGD1,TSR2 | c.2773T>C (p.Phe925Leu) c.*1672A>G (n.*1672A>G) | |
| X | g.54446222A>T | CA413357917 | FGD1,TSR2 | c.2773T>A (p.Phe925Ile) c.*1672A>T (n.*1672A>T) | |
| X | g.54446223C>A | CA516697935 | FGD1,TSR2 | c.2772G>T (p.Thr924=) c.*1673C>A (n.*1673C>A) | |
| X | g.54446223C>G | CA516697937 | FGD1,TSR2 | c.2772G>C (p.Thr924=) c.*1673C>G (n.*1673C>G) | |
| X | g.54446223C>T | CA516697939 | FGD1,TSR2 | c.2772G>A (p.Thr924=) c.*1673C>T (n.*1673C>T) | gnomAD v4 COSMIC |
| X | g.54446224G>A | CA413357918 | FGD1,TSR2 | c.2771C>T (p.Thr924Met) c.*1674G>A (n.*1674G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.54446224G>C | CA413357919 | FGD1,TSR2 | c.2771C>G (p.Thr924Arg) c.*1674G>C (n.*1674G>C) | |
| X | g.54446224G= | CA2430182828 | FGD1,TSR2 | c.2771C= (p.Thr924=) c.*1674G= (n.*1674G=) | |
| X | g.54446224G>T | CA413357920 | FGD1,TSR2 | c.2771C>A (p.Thr924Lys) c.*1674G>T (n.*1674G>T) | |
| X | g.54446225T>A | CA413357921 | FGD1,TSR2 | c.2770A>T (p.Thr924Ser) c.*1675T>A (n.*1675T>A) | |
| X | g.54446225T>C | CA413357923 | FGD1,TSR2 | c.2770A>G (p.Thr924Ala) c.*1675T>C (n.*1675T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.54446225T>G | CA413357922 | FGD1,TSR2 | c.2770A>C (p.Thr924Pro) c.*1675T>G (n.*1675T>G) | |
| X | g.54446225T= | CA2430182829 | FGD1,TSR2 | c.2770A= (p.Thr924=) c.*1675T= (n.*1675T=) | |
| X | g.54446226G>A | CA516697943 | FGD1,TSR2 | c.2769C>T (p.Asp923=) c.*1676G>A (n.*1676G>A) | gnomAD v4 |
| X | g.54446226G>C | CA413357924 | FGD1,TSR2 | c.2769C>G (p.Asp923Glu) c.*1676G>C (n.*1676G>C) | dbSNP |
| X | g.54446226G= | CA2430182830 | FGD1,TSR2 | c.2769C= (p.Asp923=) c.*1676G= (n.*1676G=) | |
| X | g.54446226G>T | CA413357925 | FGD1,TSR2 | c.2769C>A (p.Asp923Glu) c.*1676G>T (n.*1676G>T) | |
| X | g.54446227T>A | CA413357926 | FGD1,TSR2 | c.2768A>T (p.Asp923Val) c.*1677T>A (n.*1677T>A) | |
| X | g.54446227T>C | CA413357927 | FGD1,TSR2 | c.2768A>G (p.Asp923Gly) c.*1677T>C (n.*1677T>C) | |
| X | g.54446227T>G | CA413357928 | FGD1,TSR2 | c.2768A>C (p.Asp923Ala) c.*1677T>G (n.*1677T>G) | |
| X | g.54446228C>A | CA413357929 | FGD1,TSR2 | c.2767G>T (p.Asp923Tyr) c.*1678C>A (n.*1678C>A) | |
| X | g.54446228C= | CA2430182831 | FGD1,TSR2 | c.2767G= (p.Asp923=) c.*1678C= (n.*1678C=) | |
| X | g.54446228C>G | CA413357930 | FGD1,TSR2 | c.2767G>C (p.Asp923His) c.*1678C>G (n.*1678C>G) | |
| X | g.54446228C>T | CA413357931 | FGD1,TSR2 | c.2767G>A (p.Asp923Asn) c.*1678C>T (n.*1678C>T) | dbSNP |
| X | g.54446229C>A | CA516697948 | FGD1,TSR2 | c.2766G>T (p.Gly922=) c.*1679C>A (n.*1679C>A) | |
| X | g.54446229C>G | CA516697950 | FGD1,TSR2 | c.2766G>C (p.Gly922=) c.*1679C>G (n.*1679C>G) | |
| X | g.54446229C>T | CA516697949 | FGD1,TSR2 | c.2766G>A (p.Gly922=) c.*1679C>T (n.*1679C>T) | gnomAD v4 |
| X | g.54446230C>A | CA413357932 | FGD1,TSR2 | c.2765G>T (p.Gly922Val) c.*1680C>A (n.*1680C>A) | |
| X | g.54446230C>G | CA413357933 | FGD1,TSR2 | c.2765G>C (p.Gly922Ala) c.*1680C>G (n.*1680C>G) | |
| X | g.54446230C>T | CA413357934 | FGD1,TSR2 | c.2765G>A (p.Gly922Glu) c.*1680C>T (n.*1680C>T) | gnomAD v4 |
| X | g.54446231C>A | CA413357937 | FGD1,TSR2 | c.2764G>T (p.Gly922Trp) c.*1681C>A (n.*1681C>A) | |
| X | g.54446231C>G | CA413357936 | FGD1,TSR2 | c.2764G>C (p.Gly922Arg) c.*1681C>G (n.*1681C>G) | |
| X | g.54446231C>T | CA413357935 | FGD1,TSR2 | c.2764G>A (p.Gly922Arg) c.*1681C>T (n.*1681C>T) | |
| X | g.54446232T>A | CA516697953 | FGD1,TSR2 | c.2763A>T (p.Arg921=) c.*1682T>A (n.*1682T>A) | |
| X | g.54446232T>C | CA516697954 | FGD1,TSR2 | c.2763A>G (p.Arg921=) c.*1682T>C (n.*1682T>C) | |
| X | g.54446232T>G | CA516697955 | FGD1,TSR2 | c.2763A>C (p.Arg921=) c.*1682T>G (n.*1682T>G) | |
| X | g.54446233C>A | CA413357938 | FGD1,TSR2 | c.2762G>T (p.Arg921Leu) c.*1683C>A (n.*1683C>A) | |
| X | g.54446233C= | CA2430182832 | FGD1,TSR2 | c.2762G= (p.Arg921=) c.*1683C= (n.*1683C=) | |
| X | g.54446233C>G | CA413357939 | FGD1,TSR2 | c.2762G>C (p.Arg921Pro) c.*1683C>G (n.*1683C>G) | |
| X | g.54446233C>T | CA329088222 | FGD1,TSR2 | c.2762G>A (p.Arg921Gln) c.*1683C>T (n.*1683C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.54446234G>A | CA353590 | FGD1,TSR2 | c.2761C>T (p.Arg921Ter) c.*1684G>A (n.*1684G>A) | ClinVar dbSNP COSMIC |
| X | g.54446234G>C | CA413357940 | FGD1,TSR2 | c.2761C>G (p.Arg921Gly) c.*1684G>C (n.*1684G>C) | |
| X | g.54446234G= | CA2430182833 | FGD1,TSR2 | c.2761C= (p.Arg921=) c.*1684G= (n.*1684G=) | |
| X | g.54446234G>T | CA516697958 | FGD1,TSR2 | c.2761C>A (p.Arg921=) c.*1684G>T (n.*1684G>T) | ClinVar |
| X | g.54446235G>A | CA516697959 | FGD1,TSR2 | c.2760C>T (p.Gly920=) c.*1685G>A (n.*1685G>A) | |
| X | g.54446235G>C | CA516697960 | FGD1,TSR2 | c.2760C>G (p.Gly920=) c.*1685G>C (n.*1685G>C) | |
| X | g.54446235G>T | CA516697961 | FGD1,TSR2 | c.2760C>A (p.Gly920=) c.*1685G>T (n.*1685G>T) | |
| X | g.54446236C>A | CA413357941 | FGD1,TSR2 | c.2759G>T (p.Gly920Val) c.*1686C>A (n.*1686C>A) | |
| X | g.54446236C>G | CA413357942 | FGD1,TSR2 | c.2759G>C (p.Gly920Ala) c.*1686C>G (n.*1686C>G) | |
| X | g.54446236C>T | CA413357943 | FGD1,TSR2 | c.2759G>A (p.Gly920Asp) c.*1686C>T (n.*1686C>T) | |
| X | g.54446237C>A | CA413357944 | FGD1,TSR2 | c.2758G>T (p.Gly920Cys) c.*1687C>A (n.*1687C>A) | |
| X | g.54446237C>G | CA413357945 | FGD1,TSR2 | c.2758G>C (p.Gly920Arg) c.*1687C>G (n.*1687C>G) | |
| X | g.54446237C>T | CA413357946 | FGD1,TSR2 | c.2758G>A (p.Gly920Ser) c.*1687C>T (n.*1687C>T) | |
| X | g.54446238C>A | CA516697968 | FGD1,TSR2 | c.2757G>T (p.Ala919=) c.*1688C>A (n.*1688C>A) | |
| X | g.54446238C= | CA2430182834 | FGD1,TSR2 | c.2757G= (p.Ala919=) c.*1688C= (n.*1688C=) | |
| X | g.54446238C>G | CA516697969 | FGD1,TSR2 | c.2757G>C (p.Ala919=) c.*1688C>G (n.*1688C>G) | |
| X | g.54446238C>T | CA10424898 | FGD1,TSR2 | c.2757G>A (p.Ala919=) c.*1688C>T (n.*1688C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.54446239G>A | CA413357949 | FGD1,TSR2 | c.2756C>T (p.Ala919Val) c.*1689G>A (n.*1689G>A) | gnomAD v4 |
| X | g.54446239G>C | CA413357948 | FGD1,TSR2 | c.2756C>G (p.Ala919Gly) c.*1689G>C (n.*1689G>C) | |
| X | g.54446239G>T | CA413357947 | FGD1,TSR2 | c.2756C>A (p.Ala919Glu) c.*1689G>T (n.*1689G>T) | |
| X | g.54446240C>A | CA413357950 | FGD1,TSR2 | c.2755G>T (p.Ala919Ser) c.*1690C>A (n.*1690C>A) | |
| X | g.54446240C>G | CA413357952 | FGD1,TSR2 | c.2755G>C (p.Ala919Pro) c.*1690C>G (n.*1690C>G) | |
| X | g.54446240C>T | CA413357951 | FGD1,TSR2 | c.2755G>A (p.Ala919Thr) c.*1690C>T (n.*1690C>T) | |
| X | g.54446242del | CA2543924724 | FGD1,TSR2 | c.2755del (p.Ala919ArgfsTer27) c.*1692del (n.*1692del) | |
| X | g.54446241C>A | CA516697972 | FGD1,TSR2 | c.2754G>T (p.Arg918=) c.*1691C>A (n.*1691C>A) | |
| X | g.54446241C>G | CA516697974 | FGD1,TSR2 | c.2754G>C (p.Arg918=) c.*1691C>G (n.*1691C>G) | |
| X | g.54446241C>T | CA516697973 | FGD1,TSR2 | c.2754G>A (p.Arg918=) c.*1691C>T (n.*1691C>T) | |
| X | g.54446242C>A | CA413357953 | FGD1,TSR2 | c.2753G>T (p.Arg918Leu) c.*1692C>A (n.*1692C>A) | |
| X | g.54446242C= | CA2430182835 | FGD1,TSR2 | c.2753G= (p.Arg918=) c.*1692C= (n.*1692C=) | |
| X | g.54446242C>G | CA413357954 | FGD1,TSR2 | c.2753G>C (p.Arg918Pro) c.*1692C>G (n.*1692C>G) | |
| X | g.54446242C>T | CA10424899 | FGD1,TSR2 | c.2753G>A (p.Arg918Gln) c.*1692C>T (n.*1692C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.54446243G>A | CA413357955 | FGD1,TSR2 | c.2752C>T (p.Arg918Trp) c.*1693G>A (n.*1693G>A) | gnomAD v4 COSMIC |
| X | g.54446243G>C | CA413357956 | FGD1,TSR2 | c.2752C>G (p.Arg918Gly) c.*1693G>C (n.*1693G>C) | |
| X | g.54446243G>T | CA516697975 | FGD1,TSR2 | c.2752C>A (p.Arg918=) c.*1693G>T (n.*1693G>T) | |
| X | g.54446244G>A | CA10604387 | FGD1,TSR2 | c.2751C>T (p.Gly917=) c.*1694G>A (n.*1694G>A) | ClinVar dbSNP gnomAD v4 |
| X | g.54446244G>C | CA516697976 | FGD1,TSR2 | c.2751C>G (p.Gly917=) c.*1694G>C (n.*1694G>C) | |
| X | g.54446244G= | CA2430182836 | FGD1,TSR2 | c.2751C= (p.Gly917=) c.*1694G= (n.*1694G=) | |
| X | g.54446244G>T | CA516697977 | FGD1,TSR2 | c.2751C>A (p.Gly917=) c.*1694G>T (n.*1694G>T) | |
| X | g.54446245C>A | CA413357958 | FGD1,TSR2 | c.2750G>T (p.Gly917Val) c.*1695C>A (n.*1695C>A) | |
| X | g.54446245C>G | CA413357957 | FGD1,TSR2 | c.2750G>C (p.Gly917Ala) c.*1695C>G (n.*1695C>G) | |
| X | g.54446245C>T | CA413357959 | FGD1,TSR2 | c.2750G>A (p.Gly917Asp) c.*1695C>T (n.*1695C>T) | |
| X | g.54446246C>A | CA413357960 | FGD1,TSR2 | c.2749G>T (p.Gly917Cys) c.*1696C>A (n.*1696C>A) | |
| X | g.54446246C>G | CA413357962 | FGD1,TSR2 | c.2749G>C (p.Gly917Arg) c.*1696C>G (n.*1696C>G) | |
| X | g.54446246C>T | CA413357961 | FGD1,TSR2 | c.2749G>A (p.Gly917Ser) c.*1696C>T (n.*1696C>T) | |
| X | g.54446247A>C | CA516697979 | FGD1,TSR2 | c.2748T>G (p.Leu916=) c.*1697A>C (n.*1697A>C) | |
| X | g.54446247A>G | CA516697980 | FGD1,TSR2 | c.2748T>C (p.Leu916=) c.*1697A>G (n.*1697A>G) | |
| X | g.54446247A>T | CA516697981 | FGD1,TSR2 | c.2748T>A (p.Leu916=) c.*1697A>T (n.*1697A>T) | ClinVar |
| X | g.54446248A>C | CA413357963 | FGD1,TSR2 | c.2747T>G (p.Leu916Arg) c.*1698A>C (n.*1698A>C) | |
| X | g.54446248A>G | CA413357965 | FGD1,TSR2 | c.2747T>C (p.Leu916Pro) c.*1698A>G (n.*1698A>G) | |
| X | g.54446248A>T | CA413357964 | FGD1,TSR2 | c.2747T>A (p.Leu916His) c.*1698A>T (n.*1698A>T) | |
| X | g.54446249G>A | CA413357966 | FGD1,TSR2 | c.2746C>T (p.Leu916Phe) c.*1699G>A (n.*1699G>A) | |
| X | g.54446249G>C | CA413357967 | FGD1,TSR2 | c.2746C>G (p.Leu916Val) c.*1699G>C (n.*1699G>C) | |
| X | g.54446249G>T | CA413357968 | FGD1,TSR2 | c.2746C>A (p.Leu916Ile) c.*1699G>T (n.*1699G>T) | |
| X | g.54446250C>A | CA516697984 | FGD1,TSR2 | c.2745G>T (p.Val915=) c.*1700C>A (n.*1700C>A) | |
| X | g.54446250C>G | CA516697985 | FGD1,TSR2 | c.2745G>C (p.Val915=) c.*1700C>G (n.*1700C>G) | |
| X | g.54446250C>T | CA516697986 | FGD1,TSR2 | c.2745G>A (p.Val915=) c.*1700C>T (n.*1700C>T) | |
| X | g.54446251A>C | CA413357969 | FGD1,TSR2 | c.2744T>G (p.Val915Gly) c.*1701A>C (n.*1701A>C) | |
| X | g.54446251A>G | CA413357970 | FGD1,TSR2 | c.2744T>C (p.Val915Ala) c.*1701A>G (n.*1701A>G) | |
| X | g.54446251A>T | CA413357971 | FGD1,TSR2 | c.2744T>A (p.Val915Glu) c.*1701A>T (n.*1701A>T) | |
| X | g.54446252C>A | CA413357972 | FGD1,TSR2 | c.2743G>T (p.Val915Leu) c.*1702C>A (n.*1702C>A) | |
| X | g.54446252C>G | CA413357973 | FGD1,TSR2 | c.2743G>C (p.Val915Leu) c.*1702C>G (n.*1702C>G) | |
| X | g.54446252C>T | CA413357974 | FGD1,TSR2 | c.2743G>A (p.Val915Met) c.*1702C>T (n.*1702C>T) | |
| X | g.54446253A>C | CA516697987 | FGD1,TSR2 | c.2742T>G (p.Ala914=) c.*1703A>C (n.*1703A>C) | |
| X | g.54446253A>G | CA516697989 | FGD1,TSR2 | c.2742T>C (p.Ala914=) c.*1703A>G (n.*1703A>G) | |
| X | g.54446253A>T | CA516697990 | FGD1,TSR2 | c.2742T>A (p.Ala914=) c.*1703A>T (n.*1703A>T) | |
| X | g.54446254G>A | CA413357975 | FGD1,TSR2 | c.2741C>T (p.Ala914Val) c.*1704G>A (n.*1704G>A) | |
| X | g.54446254G>C | CA413357976 | FGD1,TSR2 | c.2741C>G (p.Ala914Gly) c.*1704G>C (n.*1704G>C) | |
| X | g.54446254G>T | CA413357977 | FGD1,TSR2 | c.2741C>A (p.Ala914Asp) c.*1704G>T (n.*1704G>T) | |
| X | g.54446255C>A | CA413357978 | FGD1,TSR2 | c.2740G>T (p.Ala914Ser) c.*1705C>A (n.*1705C>A) | |
| X | g.54446255C>G | CA413357980 | FGD1,TSR2 | c.2740G>C (p.Ala914Pro) c.*1705C>G (n.*1705C>G) | |
| X | g.54446255C>T | CA413357979 | FGD1,TSR2 | c.2740G>A (p.Ala914Thr) c.*1705C>T (n.*1705C>T) | |
| X | g.54446256C>A | CA413357981 | FGD1,TSR2 | c.2739G>T (p.Met913Ile) c.*1706C>A (n.*1706C>A) | |
| X | g.54446256C>G | CA413357982 | FGD1,TSR2 | c.2739G>C (p.Met913Ile) c.*1706C>G (n.*1706C>G) | |
| X | g.54446256C>T | CA413357983 | FGD1,TSR2 | c.2739G>A (p.Met913Ile) c.*1706C>T (n.*1706C>T) | |
| X | g.54446257A>C | CA413357984 | FGD1,TSR2 | c.2738T>G (p.Met913Arg) c.*1707A>C (n.*1707A>C) | |
| X | g.54446257A>G | CA413357985 | FGD1,TSR2 | c.2738T>C (p.Met913Thr) c.*1707A>G (n.*1707A>G) | |
| X | g.54446257A>T | CA413357986 | FGD1,TSR2 | c.2738T>A (p.Met913Lys) c.*1707A>T (n.*1707A>T) | |
| X | g.54446258T>A | CA413357987 | FGD1,TSR2 | c.2737A>T (p.Met913Leu) c.*1708T>A (n.*1708T>A) | |
| X | g.54446258T>C | CA413357988 | FGD1,TSR2 | c.2737A>G (p.Met913Val) c.*1708T>C (n.*1708T>C) | |
| X | g.54446258T>G | CA413357989 | FGD1,TSR2 | c.2737A>C (p.Met913Leu) c.*1708T>G (n.*1708T>G) | |
| X | g.54446259C>A | CA413357992 | FGD1,TSR2 | c.2736G>T (p.Trp912Cys) c.*1709C>A (n.*1709C>A) | |
| X | g.54446259C>G | CA413357991 | FGD1,TSR2 | c.2736G>C (p.Trp912Cys) c.*1709C>G (n.*1709C>G) | |
| X | g.54446259C>T | CA413357990 | FGD1,TSR2 | c.2736G>A (p.Trp912Ter) c.*1709C>T (n.*1709C>T) | gnomAD v4 |
| X | g.54446260C>A | CA413357993 | FGD1,TSR2 | c.2735G>T (p.Trp912Leu) c.*1710C>A (n.*1710C>A) | |
| X | g.54446260C= | CA2430182837 | FGD1,TSR2 | c.2735G= (p.Trp912=) c.*1710C= (n.*1710C=) | |
| X | g.54446260C>G | CA413357994 | FGD1,TSR2 | c.2735G>C (p.Trp912Ser) c.*1710C>G (n.*1710C>G) | |
| X | g.54446260C>T | CA413357995 | FGD1,TSR2 | c.2735G>A (p.Trp912Ter) c.*1710C>T (n.*1710C>T) | ClinVar dbSNP |
| X | g.54446261A>C | CA413357996 | FGD1,TSR2 | c.2734T>G (p.Trp912Gly) c.*1711A>C (n.*1711A>C) | |
| X | g.54446261A>G | CA413357997 | FGD1,TSR2 | c.2734T>C (p.Trp912Arg) c.*1711A>G (n.*1711A>G) | ClinVar dbSNP |
| X | g.54446261A>T | CA413357998 | FGD1,TSR2 | c.2734T>A (p.Trp912Arg) c.*1711A>T (n.*1711A>T) | |
| X | g.54446262G>A | CA516697993 | FGD1,TSR2 | c.2733C>T (p.Arg911=) c.*1712G>A (n.*1712G>A) | gnomAD v4 |
| X | g.54446262G>C | CA10424900 | FGD1,TSR2 | c.2733C>G (p.Arg911=) c.*1712G>C (n.*1712G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.54446262G= | CA2430182838 | FGD1,TSR2 | c.2733C= (p.Arg911=) c.*1712G= (n.*1712G=) | |
| X | g.54446262G>T | CA516697996 | FGD1,TSR2 | c.2733C>A (p.Arg911=) c.*1712G>T (n.*1712G>T) | |
| X | g.54446263_54446270del | CA2693843681 | FGD1,TSR2 | c.2726_2733del (p.Gln909LeufsTer22) c.*1713_*1720del (n.*1713_*1720del) | gnomAD v4 |
| X | g.54446263C>A | CA413357999 | FGD1,TSR2 | c.2732G>T (p.Arg911Leu) c.*1713C>A (n.*1713C>A) | |
| X | g.54446263C= | CA2430182839 | FGD1,TSR2 | c.2732G= (p.Arg911=) c.*1713C= (n.*1713C=) | |
| X | g.54446263C>G | CA413358000 | FGD1,TSR2 | c.2732G>C (p.Arg911Pro) c.*1713C>G (n.*1713C>G) | |
| X | g.54446263C>T | CA329088235 | FGD1,TSR2 | c.2732G>A (p.Arg911His) c.*1713C>T (n.*1713C>T) | dbSNP gnomAD v4 |
| X | g.54446264G>A | CA413358001 | FGD1,TSR2 | c.2731C>T (p.Arg911Cys) c.*1714G>A (n.*1714G>A) | gnomAD v4 |
| X | g.54446264G>C | CA413358002 | FGD1,TSR2 | c.2731C>G (p.Arg911Gly) c.*1714G>C (n.*1714G>C) | |
| X | g.54446264G>T | CA413358003 | FGD1,TSR2 | c.2731C>A (p.Arg911Ser) c.*1714G>T (n.*1714G>T) | |
| X | g.54446265T>A | CA516697998 | FGD1,TSR2 | c.2730A>T (p.Arg910=) c.*1715T>A (n.*1715T>A) | |
| X | g.54446265T>C | CA516697999 | FGD1,TSR2 | c.2730A>G (p.Arg910=) c.*1715T>C (n.*1715T>C) | |
| X | g.54446265T>G | CA516698000 | FGD1,TSR2 | c.2730A>C (p.Arg910=) c.*1715T>G (n.*1715T>G) | |
| X | g.54446266C>A | CA413358004 | FGD1,TSR2 | c.2729G>T (p.Arg910Leu) c.*1716C>A (n.*1716C>A) | |
| X | g.54446266C= | CA2430182840 | FGD1,TSR2 | c.2729G= (p.Arg910=) c.*1716C= (n.*1716C=) | |
| X | g.54446266C>G | CA413358005 | FGD1,TSR2 | c.2729G>C (p.Arg910Pro) c.*1716C>G (n.*1716C>G) | |
| X | g.54446266C>T | CA10424901 | FGD1,TSR2 | c.2729G>A (p.Arg910Gln) c.*1716C>T (n.*1716C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.54446267G>A | CA413358006 | FGD1,TSR2 | c.2728C>T (p.Arg910Ter) c.*1717G>A (n.*1717G>A) | ClinVar dbSNP gnomAD v2 |
| X | g.54446267G>C | CA413358007 | FGD1,TSR2 | c.2728C>G (p.Arg910Gly) c.*1717G>C (n.*1717G>C) | |
| X | g.54446267G= | CA2430182841 | FGD1,TSR2 | c.2728C= (p.Arg910=) c.*1717G= (n.*1717G=) | |
| X | g.54446267G>T | CA516698002 | FGD1,TSR2 | c.2728C>A (p.Arg910=) c.*1717G>T (n.*1717G>T) | |
| X | g.54446268C>A | CA413358008 | FGD1,TSR2 | c.2727G>T (p.Gln909His) c.*1718C>A (n.*1718C>A) | |
| X | g.54446268C>G | CA413358009 | FGD1,TSR2 | c.2727G>C (p.Gln909His) c.*1718C>G (n.*1718C>G) | |
| X | g.54446268C>T | CA516698003 | FGD1,TSR2 | c.2727G>A (p.Gln909=) c.*1718C>T (n.*1718C>T) | gnomAD v4 |
| X | g.54446269T>A | CA413358010 | FGD1,TSR2 | c.2726A>T (p.Gln909Leu) c.*1719T>A (n.*1719T>A) | |
| X | g.54446269T>C | CA413358011 | FGD1,TSR2 | c.2726A>G (p.Gln909Arg) c.*1719T>C (n.*1719T>C) | |
| X | g.54446269T>G | CA413358012 | FGD1,TSR2 | c.2726A>C (p.Gln909Pro) c.*1719T>G (n.*1719T>G) | |
| X | g.54446270G>A | CA413358013 | FGD1,TSR2 | c.2725C>T (p.Gln909Ter) c.*1720G>A (n.*1720G>A) | |
| X | g.54446270G>C | CA413358014 | FGD1,TSR2 | c.2725C>G (p.Gln909Glu) c.*1720G>C (n.*1720G>C) | |
| X | g.54446270G>T | CA413358015 | FGD1,TSR2 | c.2725C>A (p.Gln909Lys) c.*1720G>T (n.*1720G>T) | |
| X | g.54446271T>A | CA516698005 | FGD1,TSR2 | c.2724A>T (p.Leu908=) c.*1721T>A (n.*1721T>A) | |
| X | g.54446271T>C | CA516698006 | FGD1,TSR2 | c.2724A>G (p.Leu908=) c.*1721T>C (n.*1721T>C) | gnomAD v4 |
| X | g.54446271T>G | CA516698004 | FGD1,TSR2 | c.2724A>C (p.Leu908=) c.*1721T>G (n.*1721T>G) | |
| X | g.54446272A>C | CA413358017 | FGD1,TSR2 | c.2723T>G (p.Leu908Arg) c.*1722A>C (n.*1722A>C) | |
| X | g.54446272A>G | CA413358018 | FGD1,TSR2 | c.2723T>C (p.Leu908Pro) c.*1722A>G (n.*1722A>G) | |
| X | g.54446272A>T | CA413358016 | FGD1,TSR2 | c.2723T>A (p.Leu908Gln) c.*1722A>T (n.*1722A>T) | |
| X | g.54446273G>A | CA516698007 | FGD1,TSR2 | c.2722C>T (p.Leu908=) c.*1723G>A (n.*1723G>A) | dbSNP |
| X | g.54446273G>C | CA413358019 | FGD1,TSR2 | c.2722C>G (p.Leu908Val) c.*1723G>C (n.*1723G>C) | COSMIC |
| X | g.54446273G= | CA2430182842 | FGD1,TSR2 | c.2722C= (p.Leu908=) c.*1723G= (n.*1723G=) | |
| X | g.54446273G>T | CA413358020 | FGD1,TSR2 | c.2722C>A (p.Leu908Ile) c.*1723G>T (n.*1723G>T) | |
| X | g.54446274T>A | CA413358021 | FGD1,TSR2 | c.2721A>T (p.Glu907Asp) c.*1724T>A (n.*1724T>A) | |
| X | g.54446274T>C | CA516698008 | FGD1,TSR2 | c.2721A>G (p.Glu907=) c.*1724T>C (n.*1724T>C) | |
| X | g.54446274T>G | CA413358022 | FGD1,TSR2 | c.2721A>C (p.Glu907Asp) c.*1724T>G (n.*1724T>G) | |
| X | g.54446275T>A | CA413358023 | FGD1,TSR2 | c.2720A>T (p.Glu907Val) c.*1725T>A (n.*1725T>A) | |
| X | g.54446275T>C | CA413358024 | FGD1,TSR2 | c.2720A>G (p.Glu907Gly) c.*1725T>C (n.*1725T>C) | |
| X | g.54446275T>G | CA413358025 | FGD1,TSR2 | c.2720A>C (p.Glu907Ala) c.*1725T>G (n.*1725T>G) | |
| X | g.54446276C>A | CA413358026 | FGD1,TSR2 | c.2719G>T (p.Glu907Ter) c.*1726C>A (n.*1726C>A) | ClinVar dbSNP |
| X | g.54446276C= | CA2430182843 | FGD1,TSR2 | c.2719G= (p.Glu907=) c.*1726C= (n.*1726C=) | |
| X | g.54446276C>G | CA413358027 | FGD1,TSR2 | c.2719G>C (p.Glu907Gln) c.*1726C>G (n.*1726C>G) | |
| X | g.54446276C>T | CA413358028 | FGD1,TSR2 | c.2719G>A (p.Glu907Lys) c.*1726C>T (n.*1726C>T) | |
| X | g.54446277C>A | CA413358029 | FGD1,TSR2 | c.2718G>T (p.Glu906Asp) c.*1727C>A (n.*1727C>A) | |
| X | g.54446277C>G | CA413358030 | FGD1,TSR2 | c.2718G>C (p.Glu906Asp) c.*1727C>G (n.*1727C>G) | |
| X | g.54446277C>T | CA516698011 | FGD1,TSR2 | c.2718G>A (p.Glu906=) c.*1727C>T (n.*1727C>T) | |
| X | g.54446279_54446280del | CA2739273537 | FGD1,TSR2 | c.2717_2718del (p.Glu906GlyfsTer27) c.*1729_*1730del (n.*1729_*1730del) | ClinVar |
| X | g.54446278T>A | CA413358033 | FGD1,TSR2 | c.2717A>T (p.Glu906Val) c.*1728T>A (n.*1728T>A) | |
| X | g.54446278T>C | CA413358032 | FGD1,TSR2 | c.2717A>G (p.Glu906Gly) c.*1728T>C (n.*1728T>C) | |
| X | g.54446278T>G | CA413358031 | FGD1,TSR2 | c.2717A>C (p.Glu906Ala) c.*1728T>G (n.*1728T>G) | |
| X | g.54446279C>A | CA413358034 | FGD1,TSR2 | c.2716G>T (p.Glu906Ter) c.*1729C>A (n.*1729C>A) | |
| X | g.54446279C>G | CA413358035 | FGD1,TSR2 | c.2716G>C (p.Glu906Gln) c.*1729C>G (n.*1729C>G) | |
| X | g.54446279C>T | CA413358036 | FGD1,TSR2 | c.2716G>A (p.Glu906Lys) c.*1729C>T (n.*1729C>T) | |
| X | g.54446280T>A | CA516698013 | FGD1,TSR2 | c.2715A>T (p.Thr905=) c.*1730T>A (n.*1730T>A) | |
| X | g.54446280T>C | CA516698014 | FGD1,TSR2 | c.2715A>G (p.Thr905=) c.*1730T>C (n.*1730T>C) | |
| X | g.54446280T>G | CA516698015 | FGD1,TSR2 | c.2715A>C (p.Thr905=) c.*1730T>G (n.*1730T>G) | |
| X | g.54446281G>A | CA413358037 | FGD1,TSR2 | c.2714C>T (p.Thr905Ile) c.*1731G>A (n.*1731G>A) | |
| X | g.54446281G>C | CA413358038 | FGD1,TSR2 | c.2714C>G (p.Thr905Arg) c.*1731G>C (n.*1731G>C) | |
| X | g.54446281G>T | CA413358039 | FGD1,TSR2 | c.2714C>A (p.Thr905Lys) c.*1731G>T (n.*1731G>T) | |
| X | g.54446282T>A | CA413358040 | FGD1,TSR2 | c.2713A>T (p.Thr905Ser) c.*1732T>A (n.*1732T>A) | |
| X | g.54446282T>C | CA413358041 | FGD1,TSR2 | c.2713A>G (p.Thr905Ala) c.*1732T>C (n.*1732T>C) | |
| X | g.54446282T>G | CA413358042 | FGD1,TSR2 | c.2713A>C (p.Thr905Pro) c.*1732T>G (n.*1732T>G) | |
| X | g.54446284_54446285del | CA2579621433 | FGD1,TSR2 | c.2712_2713del (p.Glu904AspfsTer29) c.*1734_*1735del (n.*1734_*1735del) | |
| X | g.54446283C>A | CA413358043 | FGD1,TSR2 | c.2712G>T (p.Glu904Asp) c.*1733C>A (n.*1733C>A) | |
| X | g.54446283C>G | CA413358044 | FGD1,TSR2 | c.2712G>C (p.Glu904Asp) c.*1733C>G (n.*1733C>G) | |
| X | g.54446283C>T | CA516698018 | FGD1,TSR2 | c.2712G>A (p.Glu904=) c.*1733C>T (n.*1733C>T) | |
| X | g.54446284T>A | CA413358045 | FGD1,TSR2 | c.2711A>T (p.Glu904Val) c.*1734T>A (n.*1734T>A) | |
| X | g.54446284T>C | CA413358046 | FGD1,TSR2 | c.2711A>G (p.Glu904Gly) c.*1734T>C (n.*1734T>C) | |
| X | g.54446284T>G | CA413358047 | FGD1,TSR2 | c.2711A>C (p.Glu904Ala) c.*1734T>G (n.*1734T>G) | |
| X | g.54446285C>A | CA413358049 | FGD1,TSR2 | c.2710G>T (p.Glu904Ter) c.*1735C>A (n.*1735C>A) | |
| X | g.54446285C>G | CA413358050 | FGD1,TSR2 | c.2710G>C (p.Glu904Gln) c.*1735C>G (n.*1735C>G) | |
| X | g.54446285C>T | CA413358048 | FGD1,TSR2 | c.2710G>A (p.Glu904Lys) c.*1735C>T (n.*1735C>T) |