Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154156274A>G | CA2695106748 | OPN1LW | c.745-20A>G (n.745-20A>G) c.334-20A>G (n.334-20A>G) n.589-20A>G | gnomAD v4 |
X | g.154156275C= | CA2466614081 | OPN1LW | c.745-19C= (n.745-19C=) c.334-19C= (n.334-19C=) n.589-19C= | |
X | g.154156275C>G | CA2466614082 | OPN1LW | c.745-19C>G (n.745-19C>G) c.334-19C>G (n.334-19C>G) n.589-19C>G | dbSNP |
X | g.154156278del | CA2824289405 | OPN1LW | c.745-16del (n.745-16del) c.334-16del (n.334-16del) n.589-16del | |
X | g.154156279C= | CA2466614083 | OPN1LW | c.745-15C= (n.745-15C=) c.334-15C= (n.334-15C=) n.589-15C= | |
X | g.154156279C>G | CA10558897 | OPN1LW | c.745-15C>G (n.745-15C>G) c.334-15C>G (n.334-15C>G) n.589-15C>G | dbSNP ExAC |
X | g.154156281_154156282del | CA2695106749 | OPN1LW | c.745-13_745-12del (n.745-13_745-12del) c.334-13_334-12del (n.334-13_334-12del) n.589-13_589-12del | gnomAD v4 |
X | g.154156287C= | CA2466614084 | OPN1LW | c.745-7C= (n.745-7C=) c.334-7C= (n.334-7C=) n.589-7C= | |
X | g.154156287C>G | CA2824289406 | OPN1LW | c.745-7C>G (n.745-7C>G) c.334-7C>G (n.334-7C>G) n.589-7C>G | |
X | g.154156287C>T | CA873311607 | OPN1LW | c.745-7C>T (n.745-7C>T) c.334-7C>T (n.334-7C>T) n.589-7C>T | dbSNP gnomAD v4 |
X | g.154156289C>T | CA2695106750 | OPN1LW | c.745-5C>T (n.745-5C>T) c.334-5C>T (n.334-5C>T) n.589-5C>T | gnomAD v4 |
X | g.154156291T>C | CA1138559731 | OPN1LW | c.745-3T>C (n.745-3T>C) c.334-3T>C (n.334-3T>C) n.589-3T>C | gnomAD v3 gnomAD v4 |
X | g.154156292A>C | CA415307600 | OPN1LW | c.745-2A>C (n.745-2A>C) c.334-2A>C (n.334-2A>C) n.589-2A>C | |
X | g.154156292A>G | CA415307603 | OPN1LW | c.745-2A>G (n.745-2A>G) c.334-2A>G (n.334-2A>G) n.589-2A>G | |
X | g.154156292A>T | CA415307606 | OPN1LW | c.745-2A>T (n.745-2A>T) c.334-2A>T (n.334-2A>T) n.589-2A>T | |
X | g.154156293G>A | CA415307611 | OPN1LW | c.745-1G>A (n.745-1G>A) c.334-1G>A (n.334-1G>A) n.589-1G>A | |
X | g.154156293G>C | CA415307613 | OPN1LW | c.745-1G>C (n.745-1G>C) c.334-1G>C (n.334-1G>C) n.589-1G>C | |
X | g.154156293G>T | CA415307631 | OPN1LW | c.745-1G>T (n.745-1G>T) c.334-1G>T (n.334-1G>T) n.589-1G>T | |
X | g.154156294G>A | CA415307636 | OPN1LW | c.745G>A (p.Val249Met) c.334G>A (p.Val112Met) n.589G>A | |
X | g.154156294G>C | CA415307641 | OPN1LW | c.745G>C (p.Val249Leu) c.334G>C (p.Val112Leu) n.589G>C | |
X | g.154156294G>T | CA415307638 | OPN1LW | c.745G>T (p.Val249Leu) c.334G>T (p.Val112Leu) n.589G>T | |
X | g.154156295T>A | CA415307648 | OPN1LW | c.746T>A (p.Val249Glu) c.335T>A (p.Val112Glu) n.590T>A | |
X | g.154156295T>C | CA415307649 | OPN1LW | c.746T>C (p.Val249Ala) c.335T>C (p.Val112Ala) n.590T>C | |
X | g.154156295T>G | CA415307652 | OPN1LW | c.746T>G (p.Val249Gly) c.335T>G (p.Val112Gly) n.590T>G | |
X | g.154156296G>A | CA519323187 | OPN1LW | c.747G>A (p.Val249=) c.336G>A (p.Val112=) n.591G>A | |
X | g.154156296G>C | CA519323186 | OPN1LW | c.747G>C (p.Val249=) c.336G>C (p.Val112=) n.591G>C | |
X | g.154156296G>T | CA519323185 | OPN1LW | c.747G>T (p.Val249=) c.336G>T (p.Val112=) n.591G>T | |
X | g.154156297G>A | CA415307658 | OPN1LW | c.748G>A (p.Ala250Thr) c.337G>A (p.Ala113Thr) n.592G>A | |
X | g.154156297G>C | CA415307661 | OPN1LW | c.748G>C (p.Ala250Pro) c.337G>C (p.Ala113Pro) n.592G>C | |
X | g.154156297G>T | CA415307665 | OPN1LW | c.748G>T (p.Ala250Ser) c.337G>T (p.Ala113Ser) n.592G>T | COSMIC COSMIC |
X | g.154156298C>A | CA415307670 | OPN1LW | c.749C>A (p.Ala250Glu) c.338C>A (p.Ala113Glu) n.593C>A | |
X | g.154156298C>G | CA415307673 | OPN1LW | c.749C>G (p.Ala250Gly) c.338C>G (p.Ala113Gly) n.593C>G | |
X | g.154156298C>T | CA415307675 | OPN1LW | c.749C>T (p.Ala250Val) c.338C>T (p.Ala113Val) n.593C>T | |
X | g.154156299A>C | CA519323188 | OPN1LW | c.750A>C (p.Ala250=) c.339A>C (p.Ala113=) n.594A>C | |
X | g.154156299A>G | CA519323189 | OPN1LW | c.750A>G (p.Ala250=) c.339A>G (p.Ala113=) n.594A>G | |
X | g.154156299A>T | CA519323190 | OPN1LW | c.750A>T (p.Ala250=) c.339A>T (p.Ala113=) n.594A>T | |
X | g.154156300A>C | CA415307683 | OPN1LW | c.751A>C (p.Lys251Gln) c.340A>C (p.Lys114Gln) n.595A>C | |
X | g.154156300A>G | CA415307687 | OPN1LW | c.751A>G (p.Lys251Glu) c.340A>G (p.Lys114Glu) n.595A>G | |
X | g.154156300A>T | CA415307680 | OPN1LW | c.751A>T (p.Lys251Ter) c.340A>T (p.Lys114Ter) n.595A>T | |
X | g.154156301A>C | CA415307699 | OPN1LW | c.752A>C (p.Lys251Thr) c.341A>C (p.Lys114Thr) n.596A>C | |
X | g.154156301A>G | CA415307691 | OPN1LW | c.752A>G (p.Lys251Arg) c.341A>G (p.Lys114Arg) n.596A>G | gnomAD v4 |
X | g.154156301A>T | CA415307696 | OPN1LW | c.752A>T (p.Lys251Met) c.341A>T (p.Lys114Met) n.596A>T | |
X | g.154156302G>A | CA519323191 | OPN1LW | c.753G>A (p.Lys251=) c.342G>A (p.Lys114=) n.597G>A | gnomAD v4 |
X | g.154156302G>C | CA10558898 | OPN1LW | c.753G>C (p.Lys251Asn) c.342G>C (p.Lys114Asn) n.597G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154156302G= | CA2466614085 | OPN1LW | c.753G= (p.Lys251=) c.342G= (p.Lys114=) n.597G= | |
X | g.154156302G>T | CA415307709 | OPN1LW | c.753G>T (p.Lys251Asn) c.342G>T (p.Lys114Asn) n.597G>T | |
X | g.154156303C>A | CA415307713 | OPN1LW | c.754C>A (p.Gln252Lys) c.343C>A (p.Gln115Lys) n.598C>A | |
X | g.154156303C>G | CA415307716 | OPN1LW | c.754C>G (p.Gln252Glu) c.343C>G (p.Gln115Glu) n.598C>G | |
X | g.154156303C>T | CA415307719 | OPN1LW | c.754C>T (p.Gln252Ter) c.343C>T (p.Gln115Ter) n.598C>T | |
X | g.154156304A>C | CA415307724 | OPN1LW | c.755A>C (p.Gln252Pro) c.344A>C (p.Gln115Pro) n.599A>C | |
X | g.154156304A>G | CA415307726 | OPN1LW | c.755A>G (p.Gln252Arg) c.344A>G (p.Gln115Arg) n.599A>G | |
X | g.154156304A>T | CA415307729 | OPN1LW | c.755A>T (p.Gln252Leu) c.344A>T (p.Gln115Leu) n.599A>T | |
X | g.154156305G>A | CA519323192 | OPN1LW | c.756G>A (p.Gln252=) c.345G>A (p.Gln115=) n.600G>A | gnomAD v4 |
X | g.154156305G>C | CA415307734 | OPN1LW | c.756G>C (p.Gln252His) c.345G>C (p.Gln115His) n.600G>C | |
X | g.154156305G>T | CA415307736 | OPN1LW | c.756G>T (p.Gln252His) c.345G>T (p.Gln115His) n.600G>T | |
X | g.154156306C>A | CA415307748 | OPN1LW | c.757C>A (p.Gln253Lys) c.346C>A (p.Gln116Lys) n.601C>A | |
X | g.154156306C>G | CA415307741 | OPN1LW | c.757C>G (p.Gln253Glu) c.346C>G (p.Gln116Glu) n.601C>G | |
X | g.154156306C>T | CA415307744 | OPN1LW | c.757C>T (p.Gln253Ter) c.346C>T (p.Gln116Ter) n.601C>T | gnomAD v3 gnomAD v4 |
X | g.154156306_154156310delinsCAGAA | CA2466614086 | OPN1LW | c.757_761delinsCAGAA (p.Gln253=) c.346_350delinsCAGAA (p.Gln116=) n.601_605delinsCAGAA | |
X | g.154156307A= | CA2466614087 | OPN1LW | c.758A= (p.Gln253=) c.347A= (p.Gln116=) n.602A= | |
X | g.154156307A>C | CA415307753 | OPN1LW | c.758A>C (p.Gln253Pro) c.347A>C (p.Gln116Pro) n.602A>C | |
X | g.154156307A>G | CA10558899 | OPN1LW | c.758A>G (p.Gln253Arg) c.347A>G (p.Gln116Arg) n.602A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154156307A>T | CA415307758 | OPN1LW | c.758A>T (p.Gln253Leu) c.347A>T (p.Gln116Leu) n.602A>T | |
X | g.154156310_154156313del | CA645292457 | OPN1LW | c.761_764del (p.Lys254SerfsTer12) c.350_353del (p.Lys117SerfsTer?) n.605_608del | dbSNP gnomAD v2 gnomAD v4 |
X | g.154156308G>A | CA519323193 | OPN1LW | c.759G>A (p.Gln253=) c.348G>A (p.Gln116=) n.603G>A | |
X | g.154156308G>C | CA415307764 | OPN1LW | c.759G>C (p.Gln253His) c.348G>C (p.Gln116His) n.603G>C | |
X | g.154156308G>T | CA415307766 | OPN1LW | c.759G>T (p.Gln253His) c.348G>T (p.Gln116His) n.603G>T | |
X | g.154156309A>C | CA415307782 | OPN1LW | c.760A>C (p.Lys254Gln) c.349A>C (p.Lys117Gln) n.604A>C | |
X | g.154156309A>G | CA415307785 | OPN1LW | c.760A>G (p.Lys254Glu) c.349A>G (p.Lys117Glu) n.604A>G | |
X | g.154156309A>T | CA415307788 | OPN1LW | c.760A>T (p.Lys254Ter) c.349A>T (p.Lys117Ter) n.604A>T | |
X | g.154156310A>C | CA415307793 | OPN1LW | c.761A>C (p.Lys254Thr) c.350A>C (p.Lys117Thr) n.605A>C | |
X | g.154156310A>G | CA415307795 | OPN1LW | c.761A>G (p.Lys254Arg) c.350A>G (p.Lys117Arg) n.605A>G | |
X | g.154156310A>T | CA415307798 | OPN1LW | c.761A>T (p.Lys254Ile) c.350A>T (p.Lys117Ile) n.605A>T | |
X | g.154156311A>C | CA415307802 | OPN1LW | c.762A>C (p.Lys254Asn) c.351A>C (p.Lys117Asn) n.606A>C | |
X | g.154156311A>G | CA519323195 | OPN1LW | c.762A>G (p.Lys254=) c.351A>G (p.Lys117=) n.606A>G | |
X | g.154156311A>T | CA415307805 | OPN1LW | c.762A>T (p.Lys254Asn) c.351A>T (p.Lys117Asn) n.606A>T | |
X | g.154156313_154156314del | CA2695197189 | OPN1LW | c.764_765del (p.Glu255ValfsTer2) c.353_354del (p.Glu118ValfsTer2) n.608_609del | ClinVar |
X | g.154156312G>A | CA415307810 | OPN1LW | c.763G>A (p.Glu255Lys) c.352G>A (p.Glu118Lys) n.607G>A | |
X | g.154156312G>C | CA415307812 | OPN1LW | c.763G>C (p.Glu255Gln) c.352G>C (p.Glu118Gln) n.607G>C | |
X | g.154156312G>T | CA415307815 | OPN1LW | c.763G>T (p.Glu255Ter) c.352G>T (p.Glu118Ter) n.607G>T | |
X | g.154156313A>C | CA415307818 | OPN1LW | c.764A>C (p.Glu255Ala) c.353A>C (p.Glu118Ala) n.608A>C | |
X | g.154156313A>G | CA415307821 | OPN1LW | c.764A>G (p.Glu255Gly) c.353A>G (p.Glu118Gly) n.608A>G | |
X | g.154156313A>T | CA415307824 | OPN1LW | c.764A>T (p.Glu255Val) c.353A>T (p.Glu118Val) n.608A>T | |
X | g.154156314G>A | CA10558900 | OPN1LW | c.765G>A (p.Glu255=) c.354G>A (p.Glu118=) n.609G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154156314G>C | CA415307831 | OPN1LW | c.765G>C (p.Glu255Asp) c.354G>C (p.Glu118Asp) n.609G>C | |
X | g.154156314G= | CA2466614088 | OPN1LW | c.765G= (p.Glu255=) c.354G= (p.Glu118=) n.609G= | |
X | g.154156314G>T | CA415307832 | OPN1LW | c.765G>T (p.Glu255Asp) c.354G>T (p.Glu118Asp) n.609G>T | |
X | g.154156315T>A | CA415307836 | OPN1LW | c.766T>A (p.Ser256Thr) c.355T>A (p.Ser119Thr) n.610T>A | |
X | g.154156315T>C | CA415307840 | OPN1LW | c.766T>C (p.Ser256Pro) c.355T>C (p.Ser119Pro) n.610T>C | |
X | g.154156315T>G | CA415307843 | OPN1LW | c.766T>G (p.Ser256Ala) c.355T>G (p.Ser119Ala) n.610T>G | |
X | g.154156316C>A | CA415307855 | OPN1LW | c.767C>A (p.Ser256Tyr) c.356C>A (p.Ser119Tyr) n.611C>A | |
X | g.154156316C>G | CA415307849 | OPN1LW | c.767C>G (p.Ser256Cys) c.356C>G (p.Ser119Cys) n.611C>G | |
X | g.154156316C>T | CA415307852 | OPN1LW | c.767C>T (p.Ser256Phe) c.356C>T (p.Ser119Phe) n.611C>T | |
X | g.154156317T>A | CA519323200 | OPN1LW | c.768T>A (p.Ser256=) c.357T>A (p.Ser119=) n.612T>A | |
X | g.154156317T>C | CA519323202 | OPN1LW | c.768T>C (p.Ser256=) c.357T>C (p.Ser119=) n.612T>C | |
X | g.154156317T>G | CA519323201 | OPN1LW | c.768T>G (p.Ser256=) c.357T>G (p.Ser119=) n.612T>G | |
X | g.154156318G>A | CA415307860 | OPN1LW | c.769G>A (p.Glu257Lys) c.358G>A (p.Glu120Lys) n.613G>A | |
X | g.154156318G>C | CA415307863 | OPN1LW | c.769G>C (p.Glu257Gln) c.358G>C (p.Glu120Gln) n.613G>C | |
X | g.154156318G>T | CA415307866 | OPN1LW | c.769G>T (p.Glu257Ter) c.358G>T (p.Glu120Ter) n.613G>T | |
X | g.154156319A>C | CA415307871 | OPN1LW | c.770A>C (p.Glu257Ala) c.359A>C (p.Glu120Ala) n.614A>C | |
X | g.154156319A>G | CA415307873 | OPN1LW | c.770A>G (p.Glu257Gly) c.359A>G (p.Glu120Gly) n.614A>G | |
X | g.154156319A>T | CA415307876 | OPN1LW | c.770A>T (p.Glu257Val) c.359A>T (p.Glu120Val) n.614A>T | |
X | g.154156320A>C | CA415307879 | OPN1LW | c.771A>C (p.Glu257Asp) c.360A>C (p.Glu120Asp) n.615A>C | |
X | g.154156320A>G | CA519323203 | OPN1LW | c.771A>G (p.Glu257=) c.360A>G (p.Glu120=) n.615A>G | |
X | g.154156320A>T | CA415307882 | OPN1LW | c.771A>T (p.Glu257Asp) c.360A>T (p.Glu120Asp) n.615A>T | |
X | g.154156321T>A | CA415307886 | OPN1LW | c.772T>A (p.Ser258Thr) c.361T>A (p.Ser121Thr) n.616T>A | |
X | g.154156321T>C | CA415307889 | OPN1LW | c.772T>C (p.Ser258Pro) c.361T>C (p.Ser121Pro) n.616T>C | |
X | g.154156321T>G | CA415307894 | OPN1LW | c.772T>G (p.Ser258Ala) c.361T>G (p.Ser121Ala) n.616T>G | |
X | g.154156322C>A | CA415307902 | OPN1LW | c.773C>A (p.Ser258Tyr) c.362C>A (p.Ser121Tyr) n.617C>A | |
X | g.154156322C>G | CA415307906 | OPN1LW | c.773C>G (p.Ser258Cys) c.362C>G (p.Ser121Cys) n.617C>G | |
X | g.154156322C>T | CA415307898 | OPN1LW | c.773C>T (p.Ser258Phe) c.362C>T (p.Ser121Phe) n.617C>T | |
X | g.154156323C>A | CA519323204 | OPN1LW | c.774C>A (p.Ser258=) c.363C>A (p.Ser121=) n.618C>A | |
X | g.154156323C>G | CA519323205 | OPN1LW | c.774C>G (p.Ser258=) c.363C>G (p.Ser121=) n.618C>G | |
X | g.154156323C>T | CA519323206 | OPN1LW | c.774C>T (p.Ser258=) c.363C>T (p.Ser121=) n.618C>T | |
X | g.154156324_154156325del | CA2824289407 | OPN1LW | c.775_776del (p.Thr259ProfsTer?) c.364_365del (p.Thr122ProfsTer20) n.619_620del | |
X | g.154156324A>C | CA415307917 | OPN1LW | c.775A>C (p.Thr259Pro) c.364A>C (p.Thr122Pro) n.619A>C | |
X | g.154156324A>G | CA415307911 | OPN1LW | c.775A>G (p.Thr259Ala) c.364A>G (p.Thr122Ala) n.619A>G | |
X | g.154156324A>T | CA415307915 | OPN1LW | c.775A>T (p.Thr259Ser) c.364A>T (p.Thr122Ser) n.619A>T | |
X | g.154156325C>A | CA415307922 | OPN1LW | c.776C>A (p.Thr259Asn) c.365C>A (p.Thr122Asn) n.620C>A | |
X | g.154156325C>G | CA415307924 | OPN1LW | c.776C>G (p.Thr259Ser) c.365C>G (p.Thr122Ser) n.620C>G | |
X | g.154156325C>T | CA415307927 | OPN1LW | c.776C>T (p.Thr259Ile) c.365C>T (p.Thr122Ile) n.620C>T | |
X | g.154156326C>A | CA519323207 | OPN1LW | c.777C>A (p.Thr259=) c.366C>A (p.Thr122=) n.621C>A | |
X | g.154156326C= | CA2466614089 | OPN1LW | c.777C= (p.Thr259=) c.366C= (p.Thr122=) n.621C= | |
X | g.154156326C>G | CA519323208 | OPN1LW | c.777C>G (p.Thr259=) c.366C>G (p.Thr122=) n.621C>G | |
X | g.154156326C>T | CA519323209 | OPN1LW | c.777C>T (p.Thr259=) c.366C>T (p.Thr122=) n.621C>T | dbSNP |
X | g.154156327C>A | CA415307933 | OPN1LW | c.778C>A (p.Gln260Lys) c.367C>A (p.Gln123Lys) n.622C>A | |
X | g.154156327C= | CA2466614090 | OPN1LW | c.778C= (p.Gln260=) c.367C= (p.Gln123=) n.622C= | |
X | g.154156327C>G | CA415307936 | OPN1LW | c.778C>G (p.Gln260Glu) c.367C>G (p.Gln123Glu) n.622C>G | dbSNP |
X | g.154156327C>T | CA415307939 | OPN1LW | c.778C>T (p.Gln260Ter) c.367C>T (p.Gln123Ter) n.622C>T | |
X | g.154156328A>C | CA415307943 | OPN1LW | c.779A>C (p.Gln260Pro) c.368A>C (p.Gln123Pro) n.623A>C | |
X | g.154156328A>G | CA415307946 | OPN1LW | c.779A>G (p.Gln260Arg) c.368A>G (p.Gln123Arg) n.623A>G | |
X | g.154156328A>T | CA415307949 | OPN1LW | c.779A>T (p.Gln260Leu) c.368A>T (p.Gln123Leu) n.623A>T | |
X | g.154156329G>A | CA519323210 | OPN1LW | c.780G>A (p.Gln260=) c.369G>A (p.Gln123=) n.624G>A | |
X | g.154156329G>C | CA415307952 | OPN1LW | c.780G>C (p.Gln260His) c.369G>C (p.Gln123His) n.624G>C | |
X | g.154156329G>T | CA415307955 | OPN1LW | c.780G>T (p.Gln260His) c.369G>T (p.Gln123His) n.624G>T | |
X | g.154156330A>C | CA415307967 | OPN1LW | c.781A>C (p.Lys261Gln) c.370A>C (p.Lys124Gln) n.625A>C | |
X | g.154156330A>G | CA415307960 | OPN1LW | c.781A>G (p.Lys261Glu) c.370A>G (p.Lys124Glu) n.625A>G | |
X | g.154156330A>T | CA415307964 | OPN1LW | c.781A>T (p.Lys261Ter) c.370A>T (p.Lys124Ter) n.625A>T | |
X | g.154156331A>C | CA415307972 | OPN1LW | c.782A>C (p.Lys261Thr) c.371A>C (p.Lys124Thr) n.626A>C | |
X | g.154156331A>G | CA415307974 | OPN1LW | c.782A>G (p.Lys261Arg) c.371A>G (p.Lys124Arg) n.626A>G | |
X | g.154156331A>T | CA415307977 | OPN1LW | c.782A>T (p.Lys261Met) c.371A>T (p.Lys124Met) n.626A>T | |
X | g.154156332G>A | CA519323211 | OPN1LW | c.783G>A (p.Lys261=) c.372G>A (p.Lys124=) n.627G>A | gnomAD v4 |
X | g.154156332G>C | CA415307982 | OPN1LW | c.783G>C (p.Lys261Asn) c.372G>C (p.Lys124Asn) n.627G>C | |
X | g.154156332G>T | CA415307984 | OPN1LW | c.783G>T (p.Lys261Asn) c.372G>T (p.Lys124Asn) n.627G>T | |
X | g.154156333G>A | CA415307989 | OPN1LW | c.784G>A (p.Ala262Thr) c.373G>A (p.Ala125Thr) n.628G>A | |
X | g.154156333G>C | CA415307992 | OPN1LW | c.784G>C (p.Ala262Pro) c.373G>C (p.Ala125Pro) n.628G>C | |
X | g.154156333G>T | CA415307994 | OPN1LW | c.784G>T (p.Ala262Ser) c.373G>T (p.Ala125Ser) n.628G>T | |
X | g.154156334C>A | CA415308000 | OPN1LW | c.785C>A (p.Ala262Glu) c.374C>A (p.Ala125Glu) n.629C>A | |
X | g.154156334C= | CA2466614091 | OPN1LW | c.785C= (p.Ala262=) c.374C= (p.Ala125=) n.629C= | |
X | g.154156334C>G | CA415308002 | OPN1LW | c.785C>G (p.Ala262Gly) c.374C>G (p.Ala125Gly) n.629C>G | dbSNP |
X | g.154156334C>T | CA415308005 | OPN1LW | c.785C>T (p.Ala262Val) c.374C>T (p.Ala125Val) n.629C>T | |
X | g.154156335A>C | CA519323212 | OPN1LW | c.786A>C (p.Ala262=) c.375A>C (p.Ala125=) n.630A>C | |
X | g.154156335A>G | CA519323213 | OPN1LW | c.786A>G (p.Ala262=) c.375A>G (p.Ala125=) n.630A>G | |
X | g.154156335A>T | CA519323214 | OPN1LW | c.786A>T (p.Ala262=) c.375A>T (p.Ala125=) n.630A>T | |
X | g.154156336G>A | CA415308010 | OPN1LW | c.787G>A (p.Glu263Lys) c.376G>A (p.Glu126Lys) n.631G>A | |
X | g.154156336G>C | CA415308017 | OPN1LW | c.787G>C (p.Glu263Gln) c.376G>C (p.Glu126Gln) n.631G>C | dbSNP gnomAD v2 gnomAD v4 |
X | g.154156336G= | CA2466614092 | OPN1LW | c.787G= (p.Glu263=) c.376G= (p.Glu126=) n.631G= | |
X | g.154156336G>T | CA415308013 | OPN1LW | c.787G>T (p.Glu263Ter) c.376G>T (p.Glu126Ter) n.631G>T | |
X | g.154156337A>C | CA415308021 | OPN1LW | c.788A>C (p.Glu263Ala) c.377A>C (p.Glu126Ala) n.632A>C | |
X | g.154156337A>G | CA415308025 | OPN1LW | c.788A>G (p.Glu263Gly) c.377A>G (p.Glu126Gly) n.632A>G | |
X | g.154156337A>T | CA415308030 | OPN1LW | c.788A>T (p.Glu263Val) c.377A>T (p.Glu126Val) n.632A>T | |
X | g.154156338G>A | CA519323215 | OPN1LW | c.789G>A (p.Glu263=) c.378G>A (p.Glu126=) n.633G>A | |
X | g.154156338G>C | CA415308034 | OPN1LW | c.789G>C (p.Glu263Asp) c.378G>C (p.Glu126Asp) n.633G>C | |
X | g.154156338G>T | CA415308037 | OPN1LW | c.789G>T (p.Glu263Asp) c.378G>T (p.Glu126Asp) n.633G>T | gnomAD v4 |
X | g.154156339A>C | CA415308043 | OPN1LW | c.790A>C (p.Lys264Gln) c.379A>C (p.Lys127Gln) n.634A>C | |
X | g.154156339A>G | CA415308046 | OPN1LW | c.790A>G (p.Lys264Glu) c.379A>G (p.Lys127Glu) n.634A>G | |
X | g.154156339A>T | CA415308049 | OPN1LW | c.790A>T (p.Lys264Ter) c.379A>T (p.Lys127Ter) n.634A>T | |
X | g.154156340A>C | CA415308053 | OPN1LW | c.791A>C (p.Lys264Thr) c.380A>C (p.Lys127Thr) n.635A>C | |
X | g.154156340A>G | CA415308056 | OPN1LW | c.791A>G (p.Lys264Arg) c.380A>G (p.Lys127Arg) n.635A>G | |
X | g.154156340A>T | CA415308058 | OPN1LW | c.791A>T (p.Lys264Met) c.380A>T (p.Lys127Met) n.635A>T | |
X | g.154156341G>A | CA519323216 | OPN1LW | c.792G>A (p.Lys264=) c.381G>A (p.Lys127=) n.636G>A | |
X | g.154156341G>C | CA415308066 | OPN1LW | c.792G>C (p.Lys264Asn) c.381G>C (p.Lys127Asn) n.636G>C | |
X | g.154156341G>T | CA415308064 | OPN1LW | c.792G>T (p.Lys264Asn) c.381G>T (p.Lys127Asn) n.636G>T | |
X | g.154156342G>A | CA415308073 | OPN1LW | c.793G>A (p.Glu265Lys) c.382G>A (p.Glu128Lys) n.637G>A | COSMIC COSMIC |
X | g.154156342G>C | CA415308076 | OPN1LW | c.793G>C (p.Glu265Gln) c.382G>C (p.Glu128Gln) n.637G>C | |
X | g.154156342G>T | CA415308079 | OPN1LW | c.793G>T (p.Glu265Ter) c.382G>T (p.Glu128Ter) n.637G>T | |
X | g.154156343A>C | CA415308083 | OPN1LW | c.794A>C (p.Glu265Ala) c.383A>C (p.Glu128Ala) n.638A>C | |
X | g.154156343A>G | CA415308085 | OPN1LW | c.794A>G (p.Glu265Gly) c.383A>G (p.Glu128Gly) n.638A>G | |
X | g.154156343A>T | CA415308088 | OPN1LW | c.794A>T (p.Glu265Val) c.383A>T (p.Glu128Val) n.638A>T | |
X | g.154156344A>C | CA415308091 | OPN1LW | c.795A>C (p.Glu265Asp) c.384A>C (p.Glu128Asp) n.639A>C | |
X | g.154156344A>G | CA519323220 | OPN1LW | c.795A>G (p.Glu265=) c.384A>G (p.Glu128=) n.639A>G | dbSNP gnomAD v4 |
X | g.154156344A>T | CA415308094 | OPN1LW | c.795A>T (p.Glu265Asp) c.384A>T (p.Glu128Asp) n.639A>T | |
X | g.154156345G>A | CA415308099 | OPN1LW | c.796G>A (p.Val266Met) c.384+1G>A (n.384+1G>A) n.640G>A | |
X | g.154156345G>C | CA415308101 | OPN1LW | c.796G>C (p.Val266Leu) c.384+1G>C (n.384+1G>C) n.640G>C | |
X | g.154156345G>T | CA415308107 | OPN1LW | c.796G>T (p.Val266Leu) c.384+1G>T (n.384+1G>T) n.640G>T | |
X | g.154156346_154156350del | CA2739290588 | OPN1LW | c.797_801del (p.Val266AlafsTer?) c.384+2_384+6del (n.384+2_384+6del) n.641_645del | |
X | g.154156346T>A | CA415308114 | OPN1LW | c.797T>A (p.Val266Glu) c.384+2T>A (n.384+2T>A) n.641T>A | dbSNP gnomAD v3 gnomAD v4 |
X | g.154156346T>C | CA415308116 | OPN1LW | c.797T>C (p.Val266Ala) c.384+2T>C (n.384+2T>C) n.641T>C | |
X | g.154156346T>G | CA415308111 | OPN1LW | c.797T>G (p.Val266Gly) c.384+2T>G (n.384+2T>G) n.641T>G | |
X | g.154156346T= | CA2466614093 | OPN1LW | c.797T= (p.Val266=) c.384+2T= (n.384+2T=) n.641T= | |
X | g.154156347G>A | CA519323223 | OPN1LW | c.798G>A (p.Val266=) c.384+3G>A (n.384+3G>A) n.642G>A | |
X | g.154156347G>C | CA10558901 | OPN1LW | c.798G>C (p.Val266=) c.384+3G>C (n.384+3G>C) n.642G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154156347G= | CA2466614094 | OPN1LW | c.798G= (p.Val266=) c.384+3G= (n.384+3G=) n.642G= | |
X | g.154156347G>T | CA519323222 | OPN1LW | c.798G>T (p.Val266=) c.384+3G>T (n.384+3G>T) n.642G>T | |
X | g.154156348A>C | CA415308125 | OPN1LW | c.799A>C (p.Thr267Pro) c.384+4A>C (n.384+4A>C) n.643A>C | |
X | g.154156348A>G | CA415308130 | OPN1LW | c.799A>G (p.Thr267Ala) c.384+4A>G (n.384+4A>G) n.643A>G | |
X | g.154156348A>T | CA415308133 | OPN1LW | c.799A>T (p.Thr267Ser) c.384+4A>T (n.384+4A>T) n.643A>T | |
X | g.154156349C>A | CA415308138 | OPN1LW | c.800C>A (p.Thr267Lys) c.384+5C>A (n.384+5C>A) n.644C>A | |
X | g.154156349C>G | CA415308141 | OPN1LW | c.800C>G (p.Thr267Arg) c.384+5C>G (n.384+5C>G) n.644C>G | |
X | g.154156349C>T | CA415308144 | OPN1LW | c.800C>T (p.Thr267Met) c.384+5C>T (n.384+5C>T) n.644C>T | gnomAD v4 |
X | g.154156350G>A | CA10558902 | OPN1LW | c.801G>A (p.Thr267=) c.384+6G>A (n.384+6G>A) n.645G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154156350G>C | CA519323229 | OPN1LW | c.801G>C (p.Thr267=) c.384+6G>C (n.384+6G>C) n.645G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154156350G= | CA2466614095 | OPN1LW | c.801G= (p.Thr267=) c.384+6G= (n.384+6G=) n.645G= | |
X | g.154156350G>T | CA519323231 | OPN1LW | c.801G>T (p.Thr267=) c.384+6G>T (n.384+6G>T) n.645G>T | |
X | g.154156351C>A | CA415308154 | OPN1LW | c.802C>A (p.Arg268Ser) c.384+7C>A (n.384+7C>A) n.646C>A | |
X | g.154156351C= | CA2466614096 | OPN1LW | c.802C= (p.Arg268=) c.384+7C= (n.384+7C=) n.646C= | |
X | g.154156351C>G | CA415308156 | OPN1LW | c.802C>G (p.Arg268Gly) c.384+7C>G (n.384+7C>G) n.646C>G | |
X | g.154156351C>T | CA10558903 | OPN1LW | c.802C>T (p.Arg268Cys) c.384+7C>T (n.384+7C>T) n.646C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154156352G>A | CA10558904 | OPN1LW | c.803G>A (p.Arg268His) c.384+8G>A (n.384+8G>A) n.647G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.154156352G>C | CA415308164 | OPN1LW | c.803G>C (p.Arg268Pro) c.384+8G>C (n.384+8G>C) n.647G>C | |
X | g.154156352G= | CA2466614097 | OPN1LW | c.803G= (p.Arg268=) c.384+8G= (n.384+8G=) n.647G= | |
X | g.154156352G>T | CA10558905 | OPN1LW | c.803G>T (p.Arg268Leu) c.384+8G>T (n.384+8G>T) n.647G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154156353C>A | CA519323245 | OPN1LW | c.804C>A (p.Arg268=) c.384+9C>A (n.384+9C>A) n.648C>A | |
X | g.154156353C>G | CA519323247 | OPN1LW | c.804C>G (p.Arg268=) c.384+9C>G (n.384+9C>G) n.648C>G | |
X | g.154156353C>T | CA519323249 | OPN1LW | c.804C>T (p.Arg268=) c.384+9C>T (n.384+9C>T) n.648C>T | |
X | g.154156354A= | CA2466614098 | OPN1LW | c.805A= (p.Met269=) c.384+10A= (n.384+10A=) n.649A= | |
X | g.154156354A>C | CA415308171 | OPN1LW | c.805A>C (p.Met269Leu) c.384+10A>C (n.384+10A>C) n.649A>C | |
X | g.154156354A>G | CA415308175 | OPN1LW | c.805A>G (p.Met269Val) c.384+10A>G (n.384+10A>G) n.649A>G | dbSNP |
X | g.154156354A>T | CA415308178 | OPN1LW | c.805A>T (p.Met269Leu) c.384+10A>T (n.384+10A>T) n.649A>T | |
X | g.154156355T>A | CA415308183 | OPN1LW | c.806T>A (p.Met269Lys) c.384+11T>A (n.384+11T>A) n.650T>A | |
X | g.154156355T>C | CA415308185 | OPN1LW | c.806T>C (p.Met269Thr) c.384+11T>C (n.384+11T>C) n.650T>C | |
X | g.154156355T>G | CA415308189 | OPN1LW | c.806T>G (p.Met269Arg) c.384+11T>G (n.384+11T>G) n.650T>G | |
X | g.154156363_154156365del | CA2739243099 | OPN1LW | c.814_816del (p.Val272del) c.384+19_384+21del (n.384+19_384+21del) n.658_660del | dbSNP |
X | g.154156356G>A | CA415308193 | OPN1LW | c.807G>A (p.Met269Ile) c.384+12G>A (n.384+12G>A) n.651G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.154156356G>C | CA415308195 | OPN1LW | c.807G>C (p.Met269Ile) c.384+12G>C (n.384+12G>C) n.651G>C | |
X | g.154156356G= | CA2466614099 | OPN1LW | c.807G= (p.Met269=) c.384+12G= (n.384+12G=) n.651G= | |
X | g.154156356G>T | CA415308198 | OPN1LW | c.807G>T (p.Met269Ile) c.384+12G>T (n.384+12G>T) n.651G>T | |
X | g.154156357G>A | CA415308203 | OPN1LW | c.808G>A (p.Val270Met) c.384+13G>A (n.384+13G>A) n.652G>A | |
X | g.154156357G>C | CA415308206 | OPN1LW | c.808G>C (p.Val270Leu) c.384+13G>C (n.384+13G>C) n.652G>C | |
X | g.154156357G>T | CA415308209 | OPN1LW | c.808G>T (p.Val270Leu) c.384+13G>T (n.384+13G>T) n.652G>T | |
X | g.154156358T>A | CA415308217 | OPN1LW | c.809T>A (p.Val270Glu) c.384+14T>A (n.384+14T>A) n.653T>A | |
X | g.154156358T>C | CA415308220 | OPN1LW | c.809T>C (p.Val270Ala) c.384+14T>C (n.384+14T>C) n.653T>C | |
X | g.154156358T>G | CA415308214 | OPN1LW | c.809T>G (p.Val270Gly) c.384+14T>G (n.384+14T>G) n.653T>G | COSMIC COSMIC |
X | g.154156359G>A | CA519323273 | OPN1LW | c.810G>A (p.Val270=) c.384+15G>A (n.384+15G>A) n.654G>A | |
X | g.154156359G>C | CA519323275 | OPN1LW | c.810G>C (p.Val270=) c.384+15G>C (n.384+15G>C) n.654G>C | |
X | g.154156359G>T | CA519323278 | OPN1LW | c.810G>T (p.Val270=) c.384+15G>T (n.384+15G>T) n.654G>T | |
X | g.154156360G>A | CA415308224 | OPN1LW | c.811G>A (p.Val271Met) c.384+16G>A (n.384+16G>A) n.655G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154156360G>C | CA415308228 | OPN1LW | c.811G>C (p.Val271Leu) c.384+16G>C (n.384+16G>C) n.655G>C | |
X | g.154156360G= | CA2466614100 | OPN1LW | c.811G= (p.Val271=) c.384+16G= (n.384+16G=) n.655G= | |
X | g.154156360G>T | CA10558906 | OPN1LW | c.811G>T (p.Val271Leu) c.384+16G>T (n.384+16G>T) n.655G>T | dbSNP ExAC |
X | g.154156361T>A | CA415308237 | OPN1LW | c.812T>A (p.Val271Glu) c.384+17T>A (n.384+17T>A) n.656T>A | |
X | g.154156361T>C | CA415308240 | OPN1LW | c.812T>C (p.Val271Ala) c.384+17T>C (n.384+17T>C) n.656T>C | |
X | g.154156361T>G | CA415308243 | OPN1LW | c.812T>G (p.Val271Gly) c.384+17T>G (n.384+17T>G) n.656T>G | |
X | g.154156362G>A | CA519323292 | OPN1LW | c.813G>A (p.Val271=) c.384+18G>A (n.384+18G>A) n.657G>A | dbSNP |
X | g.154156362G>C | CA519323295 | OPN1LW | c.813G>C (p.Val271=) c.384+18G>C (n.384+18G>C) n.657G>C | |
X | g.154156362G= | CA2466614102 | OPN1LW | c.813G= (p.Val271=) c.384+18G= (n.384+18G=) n.657G= | |
X | g.154156362G>T | CA519323290 | OPN1LW | c.813G>T (p.Val271=) c.384+18G>T (n.384+18G>T) n.657G>T | |
X | g.154156362_154156364delinsGGT | CA2466614101 | OPN1LW | c.813_815delinsGGT (p.Val271=) c.384+18_384+20delinsGGT (n.384+18_384+20delinsGGT) n.657_659delinsGGT | |
X | g.154156363G>A | CA415308248 | OPN1LW | c.814G>A (p.Val272Met) c.384+19G>A (n.384+19G>A) n.658G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.154156363G>C | CA415308250 | OPN1LW | c.814G>C (p.Val272Leu) c.384+19G>C (n.384+19G>C) n.658G>C | |
X | g.154156363G= | CA2466614103 | OPN1LW | c.814G= (p.Val272=) c.384+19G= (n.384+19G=) n.658G= | |
X | g.154156363G>T | CA415308255 | OPN1LW | c.814G>T (p.Val272Leu) c.384+19G>T (n.384+19G>T) n.658G>T | |
X | g.154156364_154156365del | CA10558907 | OPN1LW | c.815_816del (p.Val272AspfsTer?) c.384+20_384+21del (n.384+20_384+21del) n.659_660del | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154156364T>A | CA415308260 | OPN1LW | c.815T>A (p.Val272Glu) c.384+20T>A (n.384+20T>A) n.659T>A | |
X | g.154156364T>C | CA415308263 | OPN1LW | c.815T>C (p.Val272Ala) c.384+20T>C (n.384+20T>C) n.659T>C | |
X | g.154156364T>G | CA415308266 | OPN1LW | c.815T>G (p.Val272Gly) c.384+20T>G (n.384+20T>G) n.659T>G | |
X | g.154156368_154156370del | CA2521018357 | OPN1LW | c.819_821del (p.Met273del) c.384+24_384+26del (n.384+24_384+26del) n.663_665del | gnomAD v4 |
X | g.154156365G>A | CA519323308 | OPN1LW | c.816G>A (p.Val272=) c.384+21G>A (n.384+21G>A) n.660G>A | |
X | g.154156365G>C | CA519323310 | OPN1LW | c.816G>C (p.Val272=) c.384+21G>C (n.384+21G>C) n.660G>C | |
X | g.154156365G>T | CA519323312 | OPN1LW | c.816G>T (p.Val272=) c.384+21G>T (n.384+21G>T) n.660G>T | |
X | g.154156366A= | CA2466614104 | OPN1LW | c.817A= (p.Met273=) c.384+22A= (n.384+22A=) n.661A= | |
X | g.154156366A>C | CA415308276 | OPN1LW | c.817A>C (p.Met273Leu) c.384+22A>C (n.384+22A>C) n.661A>C | |
X | g.154156366A>G | CA415308270 | OPN1LW | c.817A>G (p.Met273Val) c.384+22A>G (n.384+22A>G) n.661A>G | |
X | g.154156366A>T | CA415308273 | OPN1LW | c.817A>T (p.Met273Leu) c.384+22A>T (n.384+22A>T) n.661A>T | |
X | g.154156366_154156367insAG | CA10558908 | OPN1LW | c.817_818insAG (p.Met273LysfsTer2) c.384+22_384+23insAG (n.384+22_384+23insAG) n.661_662insAG | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154156367T>A | CA415308283 | OPN1LW | c.818T>A (p.Met273Lys) c.384+23T>A (n.384+23T>A) n.662T>A | |
X | g.154156367T>C | CA415308286 | OPN1LW | c.818T>C (p.Met273Thr) c.384+23T>C (n.384+23T>C) n.662T>C | |
X | g.154156367T>G | CA415308289 | OPN1LW | c.818T>G (p.Met273Arg) c.384+23T>G (n.384+23T>G) n.662T>G | |
X | g.154156368G>A | CA415308294 | OPN1LW | c.819G>A (p.Met273Ile) c.384+24G>A (n.384+24G>A) n.663G>A | gnomAD v4 |
X | g.154156368G>C | CA415308296 | OPN1LW | c.819G>C (p.Met273Ile) c.384+24G>C (n.384+24G>C) n.663G>C | |
X | g.154156368G>T | CA415308300 | OPN1LW | c.819G>T (p.Met273Ile) c.384+24G>T (n.384+24G>T) n.663G>T | COSMIC COSMIC |
X | g.154156368_154156369delinsGA | CA2466614105 | OPN1LW | c.819_820delinsGA (p.Met273=) c.384+24_384+25delinsGA (n.384+24_384+25delinsGA) n.663_664delinsGA | |
X | g.154156369A= | CA2466614106 | OPN1LW | c.820A= (p.Ile274=) c.384+25A= (n.384+25A=) n.664A= | |
X | g.154156369A>C | CA415308304 | OPN1LW | c.820A>C (p.Ile274Leu) c.384+25A>C (n.384+25A>C) n.664A>C | dbSNP gnomAD v3 gnomAD v4 |
X | g.154156369A>G | CA415308307 | OPN1LW | c.820A>G (p.Ile274Val) c.384+25A>G (n.384+25A>G) n.664A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154156369A>T | CA415308312 | OPN1LW | c.820A>T (p.Ile274Phe) c.384+25A>T (n.384+25A>T) n.664A>T | |
X | g.154156369delinsCT | CA920450256 | OPN1LW | c.820delinsCT (p.Ile274LeufsTer?) c.384+25delinsCT (n.384+25delinsCT) n.664delinsCT | dbSNP |
X | g.154156370T>A | CA415308316 | OPN1LW | c.821T>A (p.Ile274Asn) c.384+26T>A (n.384+26T>A) n.665T>A | |
X | g.154156370T>C | CA415308319 | OPN1LW | c.821T>C (p.Ile274Thr) c.384+26T>C (n.384+26T>C) n.665T>C | |
X | g.154156370T>G | CA415308322 | OPN1LW | c.821T>G (p.Ile274Ser) c.384+26T>G (n.384+26T>G) n.665T>G | |
X | g.154156371C>A | CA519323337 | OPN1LW | c.822C>A (p.Ile274=) c.384+27C>A (n.384+27C>A) n.666C>A | |
X | g.154156371C= | CA2466614107 | OPN1LW | c.822C= (p.Ile274=) c.384+27C= (n.384+27C=) n.666C= | |
X | g.154156371C>G | CA415308325 | OPN1LW | c.822C>G (p.Ile274Met) c.384+27C>G (n.384+27C>G) n.666C>G | dbSNP |
X | g.154156371C>T | CA519323340 | OPN1LW | c.822C>T (p.Ile274=) c.384+27C>T (n.384+27C>T) n.666C>T | gnomAD v4 |
X | g.154156372T>A | CA415308334 | OPN1LW | c.823T>A (p.Phe275Ile) c.384+28T>A (n.384+28T>A) n.667T>A | |
X | g.154156372T>C | CA337665818 | OPN1LW | c.823T>C (p.Phe275Leu) c.384+28T>C (n.384+28T>C) n.667T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154156372T>G | CA10558909 | OPN1LW | c.823T>G (p.Phe275Val) c.384+28T>G (n.384+28T>G) n.667T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154156372T= | CA2466614108 | OPN1LW | c.823T= (p.Phe275=) c.384+28T= (n.384+28T=) n.667T= |