2 | g.182838518T>A | CA349750601 | FRZB | c.688A>T (p.Ile230Phe)
| |
2 | g.182838518T>C | CA349750603 | FRZB | c.688A>G (p.Ile230Val)
| |
2 | g.182838518T>G | CA349750604 | FRZB | c.688A>C (p.Ile230Leu)
| |
2 | g.182838519G>A | CA430432114 | FRZB | c.687C>T (p.Asn229=)
| dbSNP |
2 | g.182838519G>C | CA349750606 | FRZB | c.687C>G (p.Asn229Lys)
| |
2 | g.182838519G= | CA1312515885 | FRZB | c.687C= (p.Asn229=)
| |
2 | g.182838519G>T | CA2013952 | FRZB | c.687C>A (p.Asn229Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838520T>A | CA349750609 | FRZB | c.686A>T (p.Asn229Ile)
| |
2 | g.182838520T>C | CA349750612 | FRZB | c.686A>G (p.Asn229Ser)
| gnomAD v4 |
2 | g.182838520T>G | CA349750611 | FRZB | c.686A>C (p.Asn229Thr)
| |
2 | g.182838521T>A | CA349750615 | FRZB | c.685A>T (p.Asn229Tyr)
| |
2 | g.182838521T>C | CA349750617 | FRZB | c.685A>G (p.Asn229Asp)
| |
2 | g.182838521T>G | CA349750618 | FRZB | c.685A>C (p.Asn229His)
| gnomAD v4 |
2 | g.182838522T>A | CA430432115 | FRZB | c.684A>T (p.Val228=)
| |
2 | g.182838522T>C | CA430432116 | FRZB | c.684A>G (p.Val228=)
| |
2 | g.182838522T>G | CA430432117 | FRZB | c.684A>C (p.Val228=)
| |
2 | g.182838523A>C | CA349750621 | FRZB | c.683T>G (p.Val228Gly)
| |
2 | g.182838523A>G | CA349750623 | FRZB | c.683T>C (p.Val228Ala)
| |
2 | g.182838523A>T | CA349750624 | FRZB | c.683T>A (p.Val228Glu)
| |
2 | g.182838524C>A | CA349750627 | FRZB | c.682G>T (p.Val228Leu)
| |
2 | g.182838524C= | CA1312515886 | FRZB | c.682G= (p.Val228=)
| |
2 | g.182838524C>G | CA349750629 | FRZB | c.682G>C (p.Val228Leu)
| dbSNP gnomAD v4 |
2 | g.182838524C>T | CA349750631 | FRZB | c.682G>A (p.Val228Ile)
| dbSNP |
2 | g.182838525C>A | CA430432118 | FRZB | c.681G>T (p.Leu227=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838525C= | CA1312515887 | FRZB | c.681G= (p.Leu227=)
| |
2 | g.182838525C>G | CA430432120 | FRZB | c.681G>C (p.Leu227=)
| |
2 | g.182838525C>T | CA430432121 | FRZB | c.681G>A (p.Leu227=)
| |
2 | g.182838526A>C | CA349750637 | FRZB | c.680T>G (p.Leu227Arg)
| |
2 | g.182838526A>G | CA349750635 | FRZB | c.680T>C (p.Leu227Pro)
| |
2 | g.182838526A>T | CA349750633 | FRZB | c.680T>A (p.Leu227Gln)
| |
2 | g.182838526_182838527insAA | CA2013953 | FRZB | c.680_681insTT (p.Val228TrpfsTer2)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.182838526dup | CA2662236419 | FRZB | c.680dup (p.Val228GlyfsTer22)
| gnomAD v4 |
2 | g.182838527G>A | CA430432122 | FRZB | c.679C>T (p.Leu227=)
| |
2 | g.182838527G>C | CA349750640 | FRZB | c.679C>G (p.Leu227Val)
| |
2 | g.182838527G>T | CA349750643 | FRZB | c.679C>A (p.Leu227Met)
| |
2 | g.182838528A>C | CA430432123 | FRZB | c.678T>G (p.Ser226=)
| |
2 | g.182838528A>G | CA430432125 | FRZB | c.678T>C (p.Ser226=)
| |
2 | g.182838528A>T | CA430432124 | FRZB | c.678T>A (p.Ser226=)
| |
2 | g.182838529G>A | CA2013954 | FRZB | c.677C>T (p.Ser226Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838529G>C | CA349750645 | FRZB | c.677C>G (p.Ser226Cys)
| |
2 | g.182838529G= | CA1312515888 | FRZB | c.677C= (p.Ser226=)
| |
2 | g.182838529G>T | CA349750647 | FRZB | c.677C>A (p.Ser226Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.182838530A= | CA1312515889 | FRZB | c.676T= (p.Ser226=)
| |
2 | g.182838530A>C | CA349750649 | FRZB | c.676T>G (p.Ser226Ala)
| |
2 | g.182838530A>G | CA61680189 | FRZB | c.676T>C (p.Ser226Pro)
| dbSNP |
2 | g.182838530A>T | CA349750652 | FRZB | c.676T>A (p.Ser226Thr)
| |
2 | g.182838531G>A | CA430432126 | FRZB | c.675C>T (p.Ser225=)
| |
2 | g.182838531G>C | CA430432127 | FRZB | c.675C>G (p.Ser225=)
| |
2 | g.182838531G>T | CA430432128 | FRZB | c.675C>A (p.Ser225=)
| |
2 | g.182838532G>A | CA349750654 | FRZB | c.674C>T (p.Ser225Phe)
| |
2 | g.182838532G>C | CA2013955 | FRZB | c.674C>G (p.Ser225Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838532G= | CA1312515890 | FRZB | c.674C= (p.Ser225=)
| |
2 | g.182838532G>T | CA349750657 | FRZB | c.674C>A (p.Ser225Tyr)
| |
2 | g.182838533A>C | CA349750661 | FRZB | c.673T>G (p.Ser225Ala)
| |
2 | g.182838533A>G | CA349750663 | FRZB | c.673T>C (p.Ser225Pro)
| |
2 | g.182838533A>T | CA349750659 | FRZB | c.673T>A (p.Ser225Thr)
| |
2 | g.182838534C>A | CA349750665 | FRZB | c.672G>T (p.Lys224Asn)
| |
2 | g.182838534C= | CA1312515891 | FRZB | c.672G= (p.Lys224=)
| |
2 | g.182838534C>G | CA349750667 | FRZB | c.672G>C (p.Lys224Asn)
| |
2 | g.182838534C>T | CA430432129 | FRZB | c.672G>A (p.Lys224=)
| dbSNP |
2 | g.182838535T>A | CA349750670 | FRZB | c.671A>T (p.Lys224Met)
| |
2 | g.182838535T>C | CA349750671 | FRZB | c.671A>G (p.Lys224Arg)
| |
2 | g.182838535T>G | CA349750673 | FRZB | c.671A>C (p.Lys224Thr)
| |
2 | g.182838536T>A | CA349750679 | FRZB | c.670A>T (p.Lys224Ter)
| |
2 | g.182838536T>C | CA349750675 | FRZB | c.670A>G (p.Lys224Glu)
| |
2 | g.182838536T>G | CA349750677 | FRZB | c.670A>C (p.Lys224Gln)
| |
2 | g.182838537T>A | CA430432130 | FRZB | c.669A>T (p.Leu223=)
| |
2 | g.182838537T>C | CA2013956 | FRZB | c.669A>G (p.Leu223=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.182838537T>G | CA430432131 | FRZB | c.669A>C (p.Leu223=)
| |
2 | g.182838537T= | CA1312515892 | FRZB | c.669A= (p.Leu223=)
| |
2 | g.182838538A>C | CA349750682 | FRZB | c.668T>G (p.Leu223Arg)
| gnomAD v4 |
2 | g.182838538A>G | CA349750684 | FRZB | c.668T>C (p.Leu223Pro)
| |
2 | g.182838538A>T | CA349750686 | FRZB | c.668T>A (p.Leu223Gln)
| |
2 | g.182838539G>A | CA430432132 | FRZB | c.667C>T (p.Leu223=)
| |
2 | g.182838539G>C | CA349750688 | FRZB | c.667C>G (p.Leu223Val)
| COSMIC |
2 | g.182838539G>T | CA349750689 | FRZB | c.667C>A (p.Leu223Ile)
| |
2 | g.182838540A= | CA1312515893 | FRZB | c.666T= (p.Ile222=)
| |
2 | g.182838540A>C | CA349750691 | FRZB | c.666T>G (p.Ile222Met)
| |
2 | g.182838540A>G | CA430432133 | FRZB | c.666T>C (p.Ile222=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838540A>T | CA430432134 | FRZB | c.666T>A (p.Ile222=)
| gnomAD v4 |
2 | g.182838541A= | CA1312515894 | FRZB | c.665T= (p.Ile222=)
| |
2 | g.182838541A>C | CA349750697 | FRZB | c.665T>G (p.Ile222Ser)
| gnomAD v4 |
2 | g.182838541A>G | CA349750693 | FRZB | c.665T>C (p.Ile222Thr)
| gnomAD v4 |
2 | g.182838541A>T | CA61680210 | FRZB | c.665T>A (p.Ile222Asn)
| dbSNP gnomAD v4 |
2 | g.182838542T>A | CA349750699 | FRZB | c.664A>T (p.Ile222Phe)
| |
2 | g.182838542T>C | CA349750701 | FRZB | c.664A>G (p.Ile222Val)
| |
2 | g.182838542T>G | CA349750703 | FRZB | c.664A>C (p.Ile222Leu)
| |
2 | g.182838543C>A | CA349750705 | FRZB | c.663G>T (p.Glu221Asp)
| |
2 | g.182838543C>G | CA349750707 | FRZB | c.663G>C (p.Glu221Asp)
| gnomAD v4 |
2 | g.182838543C>T | CA430432135 | FRZB | c.663G>A (p.Glu221=)
| gnomAD v4 |
2 | g.182838544T>A | CA349750709 | FRZB | c.662A>T (p.Glu221Val)
| |
2 | g.182838544T>C | CA349750711 | FRZB | c.662A>G (p.Glu221Gly)
| |
2 | g.182838544T>G | CA349750713 | FRZB | c.662A>C (p.Glu221Ala)
| |
2 | g.182838545C>A | CA349750715 | FRZB | c.661G>T (p.Glu221Ter)
| |
2 | g.182838545C= | CA1312515895 | FRZB | c.661G= (p.Glu221=)
| |
2 | g.182838545C>G | CA2013957 | FRZB | c.661G>C (p.Glu221Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.182838545C>T | CA2013958 | FRZB | c.661G>A (p.Glu221Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838546C>A | CA349750723 | FRZB | c.660G>T (p.Lys220Asn)
| |
2 | g.182838546C= | CA1312515896 | FRZB | c.660G= (p.Lys220=)
| |
2 | g.182838546C>G | CA349750721 | FRZB | c.660G>C (p.Lys220Asn)
| |
2 | g.182838546C>T | CA2013959 | FRZB | c.660G>A (p.Lys220=)
| dbSNP ExAC gnomAD v2 |
2 | g.182838547T>A | CA349750725 | FRZB | c.659A>T (p.Lys220Met)
| |
2 | g.182838547T>C | CA349750727 | FRZB | c.659A>G (p.Lys220Arg)
| |
2 | g.182838547T>G | CA349750728 | FRZB | c.659A>C (p.Lys220Thr)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.182838547T= | CA1312515897 | FRZB | c.659A= (p.Lys220=)
| |
2 | g.182838548T>A | CA349750731 | FRZB | c.658A>T (p.Lys220Ter)
| |
2 | g.182838548T>C | CA349750733 | FRZB | c.658A>G (p.Lys220Glu)
| gnomAD v4 |
2 | g.182838548T>G | CA349750734 | FRZB | c.658A>C (p.Lys220Gln)
| |
2 | g.182838549C>A | CA430432136 | FRZB | c.657G>T (p.Val219=)
| |
2 | g.182838549C= | CA1312515898 | FRZB | c.657G= (p.Val219=)
| |
2 | g.182838549C>G | CA430432137 | FRZB | c.657G>C (p.Val219=)
| |
2 | g.182838549C>T | CA430432138 | FRZB | c.657G>A (p.Val219=)
| dbSNP gnomAD v4 |
2 | g.182838550A= | CA1312515899 | FRZB | c.656T= (p.Val219=)
| |
2 | g.182838550A>C | CA349750737 | FRZB | c.656T>G (p.Val219Gly)
| dbSNP gnomAD v4 |
2 | g.182838550A>G | CA349750738 | FRZB | c.656T>C (p.Val219Ala)
| |
2 | g.182838550A>T | CA349750740 | FRZB | c.656T>A (p.Val219Glu)
| gnomAD v4 |
2 | g.182838551C>A | CA349750742 | FRZB | c.655G>T (p.Val219Leu)
| |
2 | g.182838551C>G | CA349750744 | FRZB | c.655G>C (p.Val219Leu)
| |
2 | g.182838551C>T | CA349750746 | FRZB | c.655G>A (p.Val219Met)
| |
2 | g.182838552C>A | CA349750748 | FRZB | c.654G>T (p.Glu218Asp)
| |
2 | g.182838552C>G | CA349750750 | FRZB | c.654G>C (p.Glu218Asp)
| |
2 | g.182838552C>T | CA430432143 | FRZB | c.654G>A (p.Glu218=)
| gnomAD v4 |
2 | g.182838553T>A | CA349750753 | FRZB | c.653A>T (p.Glu218Val)
| |
2 | g.182838553T>C | CA349750755 | FRZB | c.653A>G (p.Glu218Gly)
| |
2 | g.182838553T>G | CA349750751 | FRZB | c.653A>C (p.Glu218Ala)
| |
2 | g.182838554C>A | CA349750757 | FRZB | c.652G>T (p.Glu218Ter)
| |
2 | g.182838554C>G | CA349750759 | FRZB | c.652G>C (p.Glu218Gln)
| |
2 | g.182838554C>T | CA349750761 | FRZB | c.652G>A (p.Glu218Lys)
| |
2 | g.182838555C>A | CA430432144 | FRZB | c.651G>T (p.Val217=)
| |
2 | g.182838555C= | CA1312515900 | FRZB | c.651G= (p.Val217=)
| |
2 | g.182838555C>G | CA430432145 | FRZB | c.651G>C (p.Val217=)
| |
2 | g.182838555C>T | CA430432146 | FRZB | c.651G>A (p.Val217=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838556A>C | CA349750763 | FRZB | c.650T>G (p.Val217Gly)
| |
2 | g.182838556A>G | CA349750765 | FRZB | c.650T>C (p.Val217Ala)
| gnomAD v4 |
2 | g.182838556A>T | CA349750767 | FRZB | c.650T>A (p.Val217Glu)
| |
2 | g.182838557C>A | CA349750769 | FRZB | c.649G>T (p.Val217Leu)
| |
2 | g.182838557C>G | CA349750771 | FRZB | c.649G>C (p.Val217Leu)
| |
2 | g.182838557C>T | CA349750773 | FRZB | c.649G>A (p.Val217Met)
| |
2 | g.182838558T>A | CA430432147 | FRZB | c.648A>T (p.Val216=)
| |
2 | g.182838558T>C | CA430432149 | FRZB | c.648A>G (p.Val216=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838558T>G | CA430432150 | FRZB | c.648A>C (p.Val216=)
| |
2 | g.182838558T= | CA1312515901 | FRZB | c.648A= (p.Val216=)
| |
2 | g.182838558_182838559insTAATGTTA | CA1312515902 | FRZB | c.647_648insTAACATTA (p.Val217AsnfsTer6)
| dbSNP |
2 | g.182838558_182838559insTAATGTTAATGAGGAATATATCATCATGGGCTATGAAGATG | CA2549528365 | FRZB | c.647_648insCATCTTCATAGCCCATGATGATATATTCCTCATTAACATTA (p.Val217IlefsTer17)
| |
2 | g.182838559A>C | CA349750775 | FRZB | c.647T>G (p.Val216Gly)
| |
2 | g.182838559A>G | CA349750777 | FRZB | c.647T>C (p.Val216Ala)
| |
2 | g.182838559A>T | CA349750780 | FRZB | c.647T>A (p.Val216Glu)
| |
2 | g.182838560C>A | CA349750785 | FRZB | c.646G>T (p.Val216Leu)
| |
2 | g.182838560C>G | CA349750781 | FRZB | c.646G>C (p.Val216Leu)
| |
2 | g.182838560C>T | CA349750783 | FRZB | c.646G>A (p.Val216Ile)
| |
2 | g.182838561T>A | CA430432152 | FRZB | c.645A>T (p.Ala215=)
| |
2 | g.182838561T>C | CA430432154 | FRZB | c.645A>G (p.Ala215=)
| |
2 | g.182838561T>G | CA430432156 | FRZB | c.645A>C (p.Ala215=)
| |
2 | g.182838562G>A | CA349750787 | FRZB | c.644C>T (p.Ala215Val)
| |
2 | g.182838562G>C | CA349750789 | FRZB | c.644C>G (p.Ala215Gly)
| |
2 | g.182838562G>T | CA349750790 | FRZB | c.644C>A (p.Ala215Glu)
| |
2 | g.182838563C>A | CA2013960 | FRZB | c.643G>T (p.Ala215Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.182838563C= | CA1312515903 | FRZB | c.643G= (p.Ala215=)
| |
2 | g.182838563C>G | CA349750793 | FRZB | c.643G>C (p.Ala215Pro)
| |
2 | g.182838563C>T | CA349750794 | FRZB | c.643G>A (p.Ala215Thr)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838564A= | CA1312515904 | FRZB | c.642T= (p.Thr214=)
| |
2 | g.182838564A>C | CA2013962 | FRZB | c.642T>G (p.Thr214=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.182838564A>G | CA2013961 | FRZB | c.642T>C (p.Thr214=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.182838564A>T | CA430432157 | FRZB | c.642T>A (p.Thr214=)
| |
2 | g.182838565G>A | CA349750799 | FRZB | c.641C>T (p.Thr214Ile)
| gnomAD v4 |
2 | g.182838565G>C | CA349750800 | FRZB | c.641C>G (p.Thr214Ser)
| |
2 | g.182838565G>T | CA349750802 | FRZB | c.641C>A (p.Thr214Asn)
| |
2 | g.182838566T>A | CA349750808 | FRZB | c.640A>T (p.Thr214Ser)
| |
2 | g.182838566T>C | CA349750806 | FRZB | c.640A>G (p.Thr214Ala)
| gnomAD v4 |
2 | g.182838566T>G | CA349750804 | FRZB | c.640A>C (p.Thr214Pro)
| |
2 | g.182838567C>A | CA430432160 | FRZB | c.639G>T (p.Val213=)
| |
2 | g.182838567C= | CA1312515905 | FRZB | c.639G= (p.Val213=)
| |
2 | g.182838567C>G | CA430432161 | FRZB | c.639G>C (p.Val213=)
| |
2 | g.182838567C>T | CA430432162 | FRZB | c.639G>A (p.Val213=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838568A>C | CA349750810 | FRZB | c.638T>G (p.Val213Gly)
| |
2 | g.182838568A>G | CA349750815 | FRZB | c.638T>C (p.Val213Ala)
| |
2 | g.182838568A>T | CA349750812 | FRZB | c.638T>A (p.Val213Glu)
| |
2 | g.182838569C>A | CA349750816 | FRZB | c.637G>T (p.Val213Leu)
| |
2 | g.182838569C= | CA1312515906 | FRZB | c.637G= (p.Val213=)
| |
2 | g.182838569C>G | CA349750817 | FRZB | c.637G>C (p.Val213Leu)
| |
2 | g.182838569C>T | CA2013963 | FRZB | c.637G>A (p.Val213Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838570A= | CA1312515907 | FRZB | c.636T= (p.Asp212=)
| |
2 | g.182838570A>C | CA349750818 | FRZB | c.636T>G (p.Asp212Glu)
| |
2 | g.182838570A>G | CA430432167 | FRZB | c.636T>C (p.Asp212=)
| dbSNP |
2 | g.182838570A>T | CA349750819 | FRZB | c.636T>A (p.Asp212Glu)
| gnomAD v4 |
2 | g.182838570_182838571insC | CA2662236420 | FRZB | c.635_636insG (p.Asp212GlufsTer?)
| gnomAD v4 |
2 | g.182838571T>A | CA349750820 | FRZB | c.635A>T (p.Asp212Val)
| gnomAD v4 |
2 | g.182838571T>C | CA349750821 | FRZB | c.635A>G (p.Asp212Gly)
| gnomAD v4 |
2 | g.182838571T>G | CA349750822 | FRZB | c.635A>C (p.Asp212Ala)
| |
2 | g.182838572C>A | CA349750823 | FRZB | c.634G>T (p.Asp212Tyr)
| |
2 | g.182838572C>G | CA349750824 | FRZB | c.634G>C (p.Asp212His)
| |
2 | g.182838572C>T | CA349750825 | FRZB | c.634G>A (p.Asp212Asn)
| |
2 | g.182838573A>C | CA349750826 | FRZB | c.633T>G (p.His211Gln)
| |
2 | g.182838573A>G | CA430432170 | FRZB | c.633T>C (p.His211=)
| |
2 | g.182838573A>T | CA349750827 | FRZB | c.633T>A (p.His211Gln)
| |
2 | g.182838574T>A | CA349750830 | FRZB | c.632A>T (p.His211Leu)
| |
2 | g.182838574T>C | CA349750829 | FRZB | c.632A>G (p.His211Arg)
| gnomAD v4 |
2 | g.182838574T>G | CA349750828 | FRZB | c.632A>C (p.His211Pro)
| |
2 | g.182838575G>A | CA2013964 | FRZB | c.631C>T (p.His211Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.182838575G>C | CA349750831 | FRZB | c.631C>G (p.His211Asp)
| |
2 | g.182838575G= | CA1312515908 | FRZB | c.631C= (p.His211=)
| |
2 | g.182838575G>T | CA349750832 | FRZB | c.631C>A (p.His211Asn)
| |
2 | g.182838576G>A | CA2013965 | FRZB | c.630C>T (p.Cys210=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.182838576G>C | CA349750833 | FRZB | c.630C>G (p.Cys210Trp)
| |
2 | g.182838576G= | CA1312515909 | FRZB | c.630C= (p.Cys210=)
| |
2 | g.182838576G>T | CA349750834 | FRZB | c.630C>A (p.Cys210Ter)
| |
2 | g.182838577C>A | CA349750835 | FRZB | c.629G>T (p.Cys210Phe)
| |
2 | g.182838577C= | CA1312515910 | FRZB | c.629G= (p.Cys210=)
| |
2 | g.182838577C>G | CA349750836 | FRZB | c.629G>C (p.Cys210Ser)
| |
2 | g.182838577C>T | CA2013966 | FRZB | c.629G>A (p.Cys210Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.182838578A>C | CA349750837 | FRZB | c.628T>G (p.Cys210Gly)
| |
2 | g.182838578A>G | CA349750838 | FRZB | c.628T>C (p.Cys210Arg)
| |
2 | g.182838578A>T | CA349750839 | FRZB | c.628T>A (p.Cys210Ser)
| |
2 | g.182838579_182838582dup | CA2662236421 | FRZB | c.625_628dup (p.Cys210Ter)
| gnomAD v4 |
2 | g.182838579C>A | CA349750840 | FRZB | c.627G>T (p.Lys209Asn)
| |
2 | g.182838579C>G | CA349750841 | FRZB | c.627G>C (p.Lys209Asn)
| |
2 | g.182838579C>T | CA430432176 | FRZB | c.627G>A (p.Lys209=)
| |
2 | g.182838580T>A | CA2013967 | FRZB | c.626A>T (p.Lys209Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.182838580T>C | CA349750842 | FRZB | c.626A>G (p.Lys209Arg)
| |
2 | g.182838580T>G | CA349750843 | FRZB | c.626A>C (p.Lys209Thr)
| |
2 | g.182838580T= | CA1312515911 | FRZB | c.626A= (p.Lys209=)
| |
2 | g.182838581T>A | CA349750844 | FRZB | c.625A>T (p.Lys209Ter)
| |
2 | g.182838581T>C | CA61680298 | FRZB | c.625A>G (p.Lys209Glu)
| dbSNP gnomAD v2 |
2 | g.182838581T>G | CA349750845 | FRZB | c.625A>C (p.Lys209Gln)
| |
2 | g.182838581T= | CA1312515912 | FRZB | c.625A= (p.Lys209=)
| |
2 | g.182838582A>C | CA430432179 | FRZB | c.624T>G (p.Thr208=)
| |
2 | g.182838582A>G | CA430432180 | FRZB | c.624T>C (p.Thr208=)
| |
2 | g.182838582A>T | CA430432181 | FRZB | c.624T>A (p.Thr208=)
| |
2 | g.182838583G>A | CA61680308 | FRZB | c.623C>T (p.Thr208Ile)
| dbSNP gnomAD v4 |
2 | g.182838583G>C | CA349750846 | FRZB | c.623C>G (p.Thr208Ser)
| |
2 | g.182838583G= | CA1312515913 | FRZB | c.623C= (p.Thr208=)
| |
2 | g.182838583G>T | CA349750847 | FRZB | c.623C>A (p.Thr208Asn)
| |
2 | g.182838584T>A | CA349750848 | FRZB | c.622A>T (p.Thr208Ser)
| |
2 | g.182838584T>C | CA2013968 | FRZB | c.622A>G (p.Thr208Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838584T>G | CA349750849 | FRZB | c.622A>C (p.Thr208Pro)
| |
2 | g.182838584T= | CA1312515914 | FRZB | c.622A= (p.Thr208=)
| |
2 | g.182838585C>A | CA349750851 | FRZB | c.621G>T (p.Lys207Asn)
| |
2 | g.182838585C= | CA1312515915 | FRZB | c.621G= (p.Lys207=)
| |
2 | g.182838585C>G | CA349750850 | FRZB | c.621G>C (p.Lys207Asn)
| |
2 | g.182838585C>T | CA430432187 | FRZB | c.621G>A (p.Lys207=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838586T>A | CA349750852 | FRZB | c.620A>T (p.Lys207Met)
| |
2 | g.182838586T>C | CA349750853 | FRZB | c.620A>G (p.Lys207Arg)
| |
2 | g.182838586T>G | CA349750854 | FRZB | c.620A>C (p.Lys207Thr)
| |
2 | g.182838587T>A | CA349750855 | FRZB | c.619A>T (p.Lys207Ter)
| |
2 | g.182838587T>C | CA349750856 | FRZB | c.619A>G (p.Lys207Glu)
| dbSNP |
2 | g.182838587T>G | CA349750857 | FRZB | c.619A>C (p.Lys207Gln)
| |
2 | g.182838587T= | CA1312515916 | FRZB | c.619A= (p.Lys207=)
| |
2 | g.182838588T>A | CA430432191 | FRZB | c.618A>T (p.Ile206=)
| |
2 | g.182838588T>C | CA349750858 | FRZB | c.618A>G (p.Ile206Met)
| |
2 | g.182838588T>G | CA430432192 | FRZB | c.618A>C (p.Ile206=)
| |
2 | g.182838589A= | CA1312515917 | FRZB | c.617T= (p.Ile206=)
| |
2 | g.182838589A>C | CA349750859 | FRZB | c.617T>G (p.Ile206Arg)
| COSMIC |
2 | g.182838589A>G | CA349750860 | FRZB | c.617T>C (p.Ile206Thr)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838589A>T | CA349750861 | FRZB | c.617T>A (p.Ile206Lys)
| |
2 | g.182838589_182838590insCCTGGAACGT | CA2753437690 | FRZB | c.616_617insACGTTCCAGG (p.Ile206AsnfsTer7)
| |
2 | g.182838590T>A | CA349750862 | FRZB | c.616A>T (p.Ile206Leu)
| |
2 | g.182838590T>C | CA349750863 | FRZB | c.616A>G (p.Ile206Val)
| COSMIC |
2 | g.182838590T>G | CA349750864 | FRZB | c.616A>C (p.Ile206Leu)
| |
2 | g.182838591C>A | CA349750865 | FRZB | c.615G>T (p.Glu205Asp)
| gnomAD v4 |
2 | g.182838591C= | CA1312515918 | FRZB | c.615G= (p.Glu205=)
| |
2 | g.182838591C>G | CA349750866 | FRZB | c.615G>C (p.Glu205Asp)
| |
2 | g.182838591C>T | CA2013969 | FRZB | c.615G>A (p.Glu205=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.182838591_182838592insCTCA | CA2753437691 | FRZB | c.614_615insTGAG (p.Glu205AspfsTer6)
| |
2 | g.182838592T>A | CA349750869 | FRZB | c.614A>T (p.Glu205Val)
| |
2 | g.182838592T>C | CA349750867 | FRZB | c.614A>G (p.Glu205Gly)
| |
2 | g.182838592T>G | CA349750868 | FRZB | c.614A>C (p.Glu205Ala)
| |
2 | g.182838593C>A | CA349750870 | FRZB | c.613G>T (p.Glu205Ter)
| |
2 | g.182838593C>G | CA349750871 | FRZB | c.613G>C (p.Glu205Gln)
| |
2 | g.182838593C>T | CA349750872 | FRZB | c.613G>A (p.Glu205Lys)
| |
2 | g.182838594T>A | CA349750873 | FRZB | c.612A>T (p.Lys204Asn)
| |
2 | g.182838594T>C | CA430432200 | FRZB | c.612A>G (p.Lys204=)
| |
2 | g.182838594T>G | CA349750874 | FRZB | c.612A>C (p.Lys204Asn)
| |
2 | g.182838595T>A | CA349750875 | FRZB | c.611A>T (p.Lys204Ile)
| |
2 | g.182838595T>C | CA349750876 | FRZB | c.611A>G (p.Lys204Arg)
| |
2 | g.182838595T>G | CA349750877 | FRZB | c.611A>C (p.Lys204Thr)
| |
2 | g.182838596T>A | CA349750878 | FRZB | c.610A>T (p.Lys204Ter)
| |
2 | g.182838596T>C | CA349750879 | FRZB | c.610A>G (p.Lys204Glu)
| |
2 | g.182838596T>G | CA349750880 | FRZB | c.610A>C (p.Lys204Gln)
| |
2 | g.182838597A>C | CA430432203 | FRZB | c.609T>G (p.Val203=)
| |
2 | g.182838597A>G | CA430432204 | FRZB | c.609T>C (p.Val203=)
| |
2 | g.182838597A>T | CA430432205 | FRZB | c.609T>A (p.Val203=)
| |
2 | g.182838598A>C | CA349750881 | FRZB | c.608T>G (p.Val203Gly)
| |
2 | g.182838598A>G | CA349750883 | FRZB | c.608T>C (p.Val203Ala)
| |
2 | g.182838598A>T | CA349750882 | FRZB | c.608T>A (p.Val203Asp)
| |
2 | g.182838599C>A | CA349750884 | FRZB | c.607G>T (p.Val203Phe)
| |
2 | g.182838599C>G | CA349750885 | FRZB | c.607G>C (p.Val203Leu)
| |
2 | g.182838599C>T | CA349750886 | FRZB | c.607G>A (p.Val203Ile)
| |
2 | g.182838600T>A | CA349750887 | FRZB | c.606A>T (p.Lys202Asn)
| gnomAD v4 |
2 | g.182838600T>C | CA430432221 | FRZB | c.606A>G (p.Lys202=)
| |
2 | g.182838600T>G | CA349750888 | FRZB | c.606A>C (p.Lys202Asn)
| |
2 | g.182838601T>A | CA349750889 | FRZB | c.605A>T (p.Lys202Ile)
| |
2 | g.182838601T>C | CA349750890 | FRZB | c.605A>G (p.Lys202Arg)
| |
2 | g.182838601T>G | CA349750891 | FRZB | c.605A>C (p.Lys202Thr)
| gnomAD v4 |
2 | g.182838602T>A | CA349750892 | FRZB | c.604A>T (p.Lys202Ter)
| |
2 | g.182838602T>C | CA349750893 | FRZB | c.604A>G (p.Lys202Glu)
| gnomAD v4 |
2 | g.182838602T>G | CA349750894 | FRZB | c.604A>C (p.Lys202Gln)
| |
2 | g.182838603A>C | CA430432230 | FRZB | c.603T>G (p.Ala201=)
| |
2 | g.182838603A>G | CA430432233 | FRZB | c.603T>C (p.Ala201=)
| |
2 | g.182838603A>T | CA430432235 | FRZB | c.603T>A (p.Ala201=)
| |
2 | g.182838604G>A | CA349750896 | FRZB | c.602C>T (p.Ala201Val)
| |
2 | g.182838604G>C | CA349750897 | FRZB | c.602C>G (p.Ala201Gly)
| |
2 | g.182838604G>T | CA349750895 | FRZB | c.602C>A (p.Ala201Asp)
| gnomAD v4 |
2 | g.182838605C>A | CA349750898 | FRZB | c.601G>T (p.Ala201Ser)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838605C= | CA1312515919 | FRZB | c.601G= (p.Ala201=)
| |
2 | g.182838605C>G | CA349750899 | FRZB | c.601G>C (p.Ala201Pro)
| |
2 | g.182838605C>T | CA349750900 | FRZB | c.601G>A (p.Ala201Thr)
| |
2 | g.182838606C>A | CA430432247 | FRZB | c.600G>T (p.Arg200=)
| |
2 | g.182838606C= | CA1312515920 | FRZB | c.600G= (p.Arg200=)
| |
2 | g.182838606C>G | CA430432245 | FRZB | c.600G>C (p.Arg200=)
| |
2 | g.182838606C>T | CA430432242 | FRZB | c.600G>A (p.Arg200=)
| dbSNP |
2 | g.182838607C>A | CA349750901 | FRZB | c.599G>T (p.Arg200Leu)
| gnomAD v4 COSMIC |
2 | g.182838607C= | CA1312515921 | FRZB | c.599G= (p.Arg200=)
| |
2 | g.182838607C>G | CA349750902 | FRZB | c.599G>C (p.Arg200Pro)
| |
2 | g.182838607C>T | CA2013970 | FRZB | c.599G>A (p.Arg200Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.182838607_182838608insAGTCATTTGGGCTAAA | CA2662236422 | FRZB | c.598_599insTTTAGCCCAAATGACT (p.Arg200LeufsTer2)
| gnomAD v4 |
2 | g.182838608G>A | CA117344 | FRZB | c.598C>T (p.Arg200Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838608G>C | CA349750903 | FRZB | c.598C>G (p.Arg200Gly)
| |
2 | g.182838608G= | CA1312515922 | FRZB | c.598C= (p.Arg200=)
| |
2 | g.182838608G>T | CA430432255 | FRZB | c.598C>A (p.Arg200=)
| |
2 | g.182838609A>C | CA349750904 | FRZB | c.597T>G (p.Ile199Met)
| gnomAD v4 |
2 | g.182838609A>G | CA430432256 | FRZB | c.597T>C (p.Ile199=)
| |
2 | g.182838609A>T | CA430432257 | FRZB | c.597T>A (p.Ile199=)
| |
2 | g.182838610A>C | CA349750905 | FRZB | c.596T>G (p.Ile199Ser)
| |
2 | g.182838610A>G | CA349750906 | FRZB | c.596T>C (p.Ile199Thr)
| |
2 | g.182838610A>T | CA349750907 | FRZB | c.596T>A (p.Ile199Asn)
| |
2 | g.182838611T>A | CA349750909 | FRZB | c.595A>T (p.Ile199Phe)
| |
2 | g.182838611T>C | CA349750910 | FRZB | c.595A>G (p.Ile199Val)
| COSMIC |
2 | g.182838611T>G | CA349750908 | FRZB | c.595A>C (p.Ile199Leu)
| |
2 | g.182838612G>A | CA430432276 | FRZB | c.594C>T (p.Val198=)
| gnomAD v4 |
2 | g.182838612G>C | CA430432278 | FRZB | c.594C>G (p.Val198=)
| dbSNP |
2 | g.182838612G= | CA1312515923 | FRZB | c.594C= (p.Val198=)
| |
2 | g.182838612G>T | CA430432277 | FRZB | c.594C>A (p.Val198=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838613A= | CA1312515924 | FRZB | c.593T= (p.Val198=)
| |
2 | g.182838613A>C | CA349750911 | FRZB | c.593T>G (p.Val198Gly)
| |
2 | g.182838613A>G | CA2013971 | FRZB | c.593T>C (p.Val198Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.182838613A>T | CA349750912 | FRZB | c.593T>A (p.Val198Asp)
| |
2 | g.182838614C>A | CA349750913 | FRZB | c.593-1G>T (n.593-1G>T)
| COSMIC |
2 | g.182838614C>G | CA349750914 | FRZB | c.593-1G>C (n.593-1G>C)
| |
2 | g.182838614C>T | CA349750915 | FRZB | c.593-1G>A (n.593-1G>A)
| |
2 | g.182838615T>A | CA349750918 | FRZB | c.593-2A>T (n.593-2A>T)
| gnomAD v4 |
2 | g.182838615T>C | CA349750916 | FRZB | c.593-2A>G (n.593-2A>G)
| gnomAD v4 |
2 | g.182838615T>G | CA349750917 | FRZB | c.593-2A>C (n.593-2A>C)
| |
2 | g.182838616G>A | CA2013972 | FRZB | c.593-3C>T (n.593-3C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838616G= | CA1312515925 | FRZB | c.593-3C= (n.593-3C=)
| |
2 | g.182838616G>T | CA2662236423 | FRZB | c.593-3C>A (n.593-3C>A)
| gnomAD v4 |
2 | g.182838617G>C | CA2013973 | FRZB | c.593-4C>G (n.593-4C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838617G= | CA1312515926 | FRZB | c.593-4C= (n.593-4C=)
| |
2 | g.182838618G>A | CA645527361 | FRZB | c.593-5C>T (n.593-5C>T)
| COSMIC |