Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.69951809_69951818delCA2666480716MITFc.833-21_833-12del (n.833-21_833-12del)
c.830-21_830-12del (n.830-21_830-12del)
n.1055-21_1055-12del
c.806-21_806-12del (n.806-21_806-12del)
c.881-3_887del
c.560-3_566del
c.878-21_878-12del (n.878-21_878-12del)
c.881-21_881-12del (n.881-21_881-12del)
c.560-21_560-12del (n.560-21_560-12del)
c.833-3_839del
c.725-21_725-12del (n.725-21_725-12del)
c.*207-3_*213del
c.392-21_392-12del (n.392-21_392-12del)
c.725-3_731del
c.878-3_884del
c.830-3_836del
c.713-3_719del
c.713-21_713-12del (n.713-21_713-12del)
 gnomAD v4
3g.69951810A>CCA353561494MITFc.833-20A>C (n.833-20A>C)
c.830-20A>C (n.830-20A>C)
n.1055-20A>C
c.806-20A>C (n.806-20A>C)
c.881-2A>C (n.881-2A>C)
c.560-2A>C (n.560-2A>C)
c.878-20A>C (n.878-20A>C)
c.881-20A>C (n.881-20A>C)
c.560-20A>C (n.560-20A>C)
c.833-2A>C (n.833-2A>C)
c.725-20A>C (n.725-20A>C)
c.*207-2A>C (n.*207-2A>C)
c.392-20A>C (n.392-20A>C)
c.725-2A>C (n.725-2A>C)
c.878-2A>C (n.878-2A>C)
c.830-2A>C (n.830-2A>C)
c.713-2A>C (n.713-2A>C)
c.713-20A>C (n.713-20A>C)
3g.69951810A>GCA353561495MITFc.833-20A>G (n.833-20A>G)
c.830-20A>G (n.830-20A>G)
n.1055-20A>G
c.806-20A>G (n.806-20A>G)
c.881-2A>G (n.881-2A>G)
c.560-2A>G (n.560-2A>G)
c.878-20A>G (n.878-20A>G)
c.881-20A>G (n.881-20A>G)
c.560-20A>G (n.560-20A>G)
c.833-2A>G (n.833-2A>G)
c.725-20A>G (n.725-20A>G)
c.*207-2A>G (n.*207-2A>G)
c.392-20A>G (n.392-20A>G)
c.725-2A>G (n.725-2A>G)
c.878-2A>G (n.878-2A>G)
c.830-2A>G (n.830-2A>G)
c.713-2A>G (n.713-2A>G)
c.713-20A>G (n.713-20A>G)
 gnomAD v4 COSMIC
3g.69951810A>TCA353561496MITFc.833-20A>T (n.833-20A>T)
c.830-20A>T (n.830-20A>T)
n.1055-20A>T
c.806-20A>T (n.806-20A>T)
c.881-2A>T (n.881-2A>T)
c.560-2A>T (n.560-2A>T)
c.878-20A>T (n.878-20A>T)
c.881-20A>T (n.881-20A>T)
c.560-20A>T (n.560-20A>T)
c.833-2A>T (n.833-2A>T)
c.725-20A>T (n.725-20A>T)
c.*207-2A>T (n.*207-2A>T)
c.392-20A>T (n.392-20A>T)
c.725-2A>T (n.725-2A>T)
c.878-2A>T (n.878-2A>T)
c.830-2A>T (n.830-2A>T)
c.713-2A>T (n.713-2A>T)
c.713-20A>T (n.713-20A>T)
3g.69951811G>ACA353561497MITFc.833-19G>A (n.833-19G>A)
c.830-19G>A (n.830-19G>A)
n.1055-19G>A
c.806-19G>A (n.806-19G>A)
c.881-1G>A (n.881-1G>A)
c.560-1G>A (n.560-1G>A)
c.878-19G>A (n.878-19G>A)
c.881-19G>A (n.881-19G>A)
c.560-19G>A (n.560-19G>A)
c.833-1G>A (n.833-1G>A)
c.725-19G>A (n.725-19G>A)
c.*207-1G>A (n.*207-1G>A)
c.392-19G>A (n.392-19G>A)
c.725-1G>A (n.725-1G>A)
c.878-1G>A (n.878-1G>A)
c.830-1G>A (n.830-1G>A)
c.713-1G>A (n.713-1G>A)
c.713-19G>A (n.713-19G>A)
3g.69951811G>CCA353561498MITFc.833-19G>C (n.833-19G>C)
c.830-19G>C (n.830-19G>C)
n.1055-19G>C
c.806-19G>C (n.806-19G>C)
c.881-1G>C (n.881-1G>C)
c.560-1G>C (n.560-1G>C)
c.878-19G>C (n.878-19G>C)
c.881-19G>C (n.881-19G>C)
c.560-19G>C (n.560-19G>C)
c.833-1G>C (n.833-1G>C)
c.725-19G>C (n.725-19G>C)
c.*207-1G>C (n.*207-1G>C)
c.392-19G>C (n.392-19G>C)
c.725-1G>C (n.725-1G>C)
c.878-1G>C (n.878-1G>C)
c.830-1G>C (n.830-1G>C)
c.713-1G>C (n.713-1G>C)
c.713-19G>C (n.713-19G>C)
 COSMIC
3g.69951811G>TCA353561499MITFc.833-19G>T (n.833-19G>T)
c.830-19G>T (n.830-19G>T)
n.1055-19G>T
c.806-19G>T (n.806-19G>T)
c.881-1G>T (n.881-1G>T)
c.560-1G>T (n.560-1G>T)
c.878-19G>T (n.878-19G>T)
c.881-19G>T (n.881-19G>T)
c.560-19G>T (n.560-19G>T)
c.833-1G>T (n.833-1G>T)
c.725-19G>T (n.725-19G>T)
c.*207-1G>T (n.*207-1G>T)
c.392-19G>T (n.392-19G>T)
c.725-1G>T (n.725-1G>T)
c.878-1G>T (n.878-1G>T)
c.830-1G>T (n.830-1G>T)
c.713-1G>T (n.713-1G>T)
c.713-19G>T (n.713-19G>T)
3g.69951811_69951818delCA2577819624MITFc.833-19_833-12del (n.833-19_833-12del)
c.830-19_830-12del (n.830-19_830-12del)
n.1055-19_1055-12del
c.806-19_806-12del (n.806-19_806-12del)
c.881-1_887del
c.560-1_566del
c.878-19_878-12del (n.878-19_878-12del)
c.881-19_881-12del (n.881-19_881-12del)
c.560-19_560-12del (n.560-19_560-12del)
c.833-1_839del
c.725-19_725-12del (n.725-19_725-12del)
c.*207-1_*213del
c.392-19_392-12del (n.392-19_392-12del)
c.725-1_731del
c.878-1_884del
c.830-1_836del
c.713-1_719del
c.713-19_713-12del (n.713-19_713-12del)
3g.69951812C>ACA353561500MITFc.833-18C>A (n.833-18C>A)
c.830-18C>A (n.830-18C>A)
n.1055-18C>A
c.806-18C>A (n.806-18C>A)
c.881C>A (p.Ala294Glu)
c.560C>A (p.Ala187Glu)
c.878-18C>A (n.878-18C>A)
c.881-18C>A (n.881-18C>A)
c.560-18C>A (n.560-18C>A)
c.833C>A (p.Ala278Glu)
c.725-18C>A (n.725-18C>A)
c.*207C>A (n.*207C>A)
c.392-18C>A (n.392-18C>A)
c.725C>A (p.Ala242Glu)
c.878C>A (p.Ala293Glu)
c.830C>A (p.Ala277Glu)
c.713C>A (p.Ala238Glu)
c.713-18C>A (n.713-18C>A)
 gnomAD v4
3g.69951812C=CA1373443495MITFc.833-18C= (n.833-18C=)
c.830-18C= (n.830-18C=)
n.1055-18C=
c.806-18C= (n.806-18C=)
c.881C= (p.Ala294=)
c.560C= (p.Ala187=)
c.878-18C= (n.878-18C=)
c.881-18C= (n.881-18C=)
c.560-18C= (n.560-18C=)
c.833C= (p.Ala278=)
c.725-18C= (n.725-18C=)
c.*207C= (n.*207C=)
c.392-18C= (n.392-18C=)
c.725C= (p.Ala242=)
c.878C= (p.Ala293=)
c.830C= (p.Ala277=)
c.713C= (p.Ala238=)
c.713-18C= (n.713-18C=)
3g.69951812C>GCA353561501MITFc.833-18C>G (n.833-18C>G)
c.830-18C>G (n.830-18C>G)
n.1055-18C>G
c.806-18C>G (n.806-18C>G)
c.881C>G (p.Ala294Gly)
c.560C>G (p.Ala187Gly)
c.878-18C>G (n.878-18C>G)
c.881-18C>G (n.881-18C>G)
c.560-18C>G (n.560-18C>G)
c.833C>G (p.Ala278Gly)
c.725-18C>G (n.725-18C>G)
c.*207C>G (n.*207C>G)
c.392-18C>G (n.392-18C>G)
c.725C>G (p.Ala242Gly)
c.878C>G (p.Ala293Gly)
c.830C>G (p.Ala277Gly)
c.713C>G (p.Ala238Gly)
c.713-18C>G (n.713-18C>G)
3g.69951812C>TCA2490507MITFc.833-18C>T (n.833-18C>T)
c.830-18C>T (n.830-18C>T)
n.1055-18C>T
c.806-18C>T (n.806-18C>T)
c.881C>T (p.Ala294Val)
c.560C>T (p.Ala187Val)
c.878-18C>T (n.878-18C>T)
c.881-18C>T (n.881-18C>T)
c.560-18C>T (n.560-18C>T)
c.833C>T (p.Ala278Val)
c.725-18C>T (n.725-18C>T)
c.*207C>T (n.*207C>T)
c.392-18C>T (n.392-18C>T)
c.725C>T (p.Ala242Val)
c.878C>T (p.Ala293Val)
c.830C>T (p.Ala277Val)
c.713C>T (p.Ala238Val)
c.713-18C>T (n.713-18C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69951813G>ACA2490508MITFc.833-17G>A (n.833-17G>A)
c.830-17G>A (n.830-17G>A)
n.1055-17G>A
c.806-17G>A (n.806-17G>A)
c.882G>A (p.Ala294=)
c.561G>A (p.Ala187=)
c.878-17G>A (n.878-17G>A)
c.881-17G>A (n.881-17G>A)
c.560-17G>A (n.560-17G>A)
c.834G>A (p.Ala278=)
c.725-17G>A (n.725-17G>A)
c.*208G>A (n.*208G>A)
c.392-17G>A (n.392-17G>A)
c.726G>A (p.Ala242=)
c.879G>A (p.Ala293=)
c.831G>A (p.Ala277=)
c.714G>A (p.Ala238=)
c.713-17G>A (n.713-17G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.69951813G=CA1373443498MITFc.833-17G= (n.833-17G=)
c.830-17G= (n.830-17G=)
n.1055-17G=
c.806-17G= (n.806-17G=)
c.882G= (p.Ala294=)
c.561G= (p.Ala187=)
c.878-17G= (n.878-17G=)
c.881-17G= (n.881-17G=)
c.560-17G= (n.560-17G=)
c.834G= (p.Ala278=)
c.725-17G= (n.725-17G=)
c.*208G= (n.*208G=)
c.392-17G= (n.392-17G=)
c.726G= (p.Ala242=)
c.879G= (p.Ala293=)
c.831G= (p.Ala277=)
c.714G= (p.Ala238=)
c.713-17G= (n.713-17G=)
3g.69951814T>ACA353561502MITFc.833-16T>A (n.833-16T>A)
c.830-16T>A (n.830-16T>A)
n.1055-16T>A
c.806-16T>A (n.806-16T>A)
c.883T>A (p.Cys295Ser)
c.562T>A (p.Cys188Ser)
c.878-16T>A (n.878-16T>A)
c.881-16T>A (n.881-16T>A)
c.560-16T>A (n.560-16T>A)
c.835T>A (p.Cys279Ser)
c.725-16T>A (n.725-16T>A)
c.*209T>A (n.*209T>A)
c.392-16T>A (n.392-16T>A)
c.727T>A (p.Cys243Ser)
c.880T>A (p.Cys294Ser)
c.832T>A (p.Cys278Ser)
c.715T>A (p.Cys239Ser)
c.713-16T>A (n.713-16T>A)
3g.69951814T>CCA353561503MITFc.833-16T>C (n.833-16T>C)
c.830-16T>C (n.830-16T>C)
n.1055-16T>C
c.806-16T>C (n.806-16T>C)
c.883T>C (p.Cys295Arg)
c.562T>C (p.Cys188Arg)
c.878-16T>C (n.878-16T>C)
c.881-16T>C (n.881-16T>C)
c.560-16T>C (n.560-16T>C)
c.835T>C (p.Cys279Arg)
c.725-16T>C (n.725-16T>C)
c.*209T>C (n.*209T>C)
c.392-16T>C (n.392-16T>C)
c.727T>C (p.Cys243Arg)
c.880T>C (p.Cys294Arg)
c.832T>C (p.Cys278Arg)
c.715T>C (p.Cys239Arg)
c.713-16T>C (n.713-16T>C)
3g.69951814T>GCA353561504MITFc.833-16T>G (n.833-16T>G)
c.830-16T>G (n.830-16T>G)
n.1055-16T>G
c.806-16T>G (n.806-16T>G)
c.883T>G (p.Cys295Gly)
c.562T>G (p.Cys188Gly)
c.878-16T>G (n.878-16T>G)
c.881-16T>G (n.881-16T>G)
c.560-16T>G (n.560-16T>G)
c.835T>G (p.Cys279Gly)
c.725-16T>G (n.725-16T>G)
c.*209T>G (n.*209T>G)
c.392-16T>G (n.392-16T>G)
c.727T>G (p.Cys243Gly)
c.880T>G (p.Cys294Gly)
c.832T>G (p.Cys278Gly)
c.715T>G (p.Cys239Gly)
c.713-16T>G (n.713-16T>G)
3g.69951815G>ACA353561505MITFc.833-15G>A (n.833-15G>A)
c.830-15G>A (n.830-15G>A)
n.1055-15G>A
c.806-15G>A (n.806-15G>A)
c.884G>A (p.Cys295Tyr)
c.563G>A (p.Cys188Tyr)
c.878-15G>A (n.878-15G>A)
c.881-15G>A (n.881-15G>A)
c.560-15G>A (n.560-15G>A)
c.836G>A (p.Cys279Tyr)
c.725-15G>A (n.725-15G>A)
c.*210G>A (n.*210G>A)
c.392-15G>A (n.392-15G>A)
c.728G>A (p.Cys243Tyr)
c.881G>A (p.Cys294Tyr)
c.833G>A (p.Cys278Tyr)
c.716G>A (p.Cys239Tyr)
c.713-15G>A (n.713-15G>A)
 ClinVar gnomAD v4
3g.69951815G>CCA353561506MITFc.833-15G>C (n.833-15G>C)
c.830-15G>C (n.830-15G>C)
n.1055-15G>C
c.806-15G>C (n.806-15G>C)
c.884G>C (p.Cys295Ser)
c.563G>C (p.Cys188Ser)
c.878-15G>C (n.878-15G>C)
c.881-15G>C (n.881-15G>C)
c.560-15G>C (n.560-15G>C)
c.836G>C (p.Cys279Ser)
c.725-15G>C (n.725-15G>C)
c.*210G>C (n.*210G>C)
c.392-15G>C (n.392-15G>C)
c.728G>C (p.Cys243Ser)
c.881G>C (p.Cys294Ser)
c.833G>C (p.Cys278Ser)
c.716G>C (p.Cys239Ser)
c.713-15G>C (n.713-15G>C)
3g.69951815G>TCA353561507MITFc.833-15G>T (n.833-15G>T)
c.830-15G>T (n.830-15G>T)
n.1055-15G>T
c.806-15G>T (n.806-15G>T)
c.884G>T (p.Cys295Phe)
c.563G>T (p.Cys188Phe)
c.878-15G>T (n.878-15G>T)
c.881-15G>T (n.881-15G>T)
c.560-15G>T (n.560-15G>T)
c.836G>T (p.Cys279Phe)
c.725-15G>T (n.725-15G>T)
c.*210G>T (n.*210G>T)
c.392-15G>T (n.392-15G>T)
c.728G>T (p.Cys243Phe)
c.881G>T (p.Cys294Phe)
c.833G>T (p.Cys278Phe)
c.716G>T (p.Cys239Phe)
c.713-15G>T (n.713-15G>T)
 gnomAD v4
3g.69951816T>ACA353561508MITFc.833-14T>A (n.833-14T>A)
c.830-14T>A (n.830-14T>A)
n.1055-14T>A
c.806-14T>A (n.806-14T>A)
c.885T>A (p.Cys295Ter)
c.564T>A (p.Cys188Ter)
c.878-14T>A (n.878-14T>A)
c.881-14T>A (n.881-14T>A)
c.560-14T>A (n.560-14T>A)
c.837T>A (p.Cys279Ter)
c.725-14T>A (n.725-14T>A)
c.*211T>A (n.*211T>A)
c.392-14T>A (n.392-14T>A)
c.729T>A (p.Cys243Ter)
c.882T>A (p.Cys294Ter)
c.834T>A (p.Cys278Ter)
c.717T>A (p.Cys239Ter)
c.713-14T>A (n.713-14T>A)
3g.69951816T>GCA353561509MITFc.833-14T>G (n.833-14T>G)
c.830-14T>G (n.830-14T>G)
n.1055-14T>G
c.806-14T>G (n.806-14T>G)
c.885T>G (p.Cys295Trp)
c.564T>G (p.Cys188Trp)
c.878-14T>G (n.878-14T>G)
c.881-14T>G (n.881-14T>G)
c.560-14T>G (n.560-14T>G)
c.837T>G (p.Cys279Trp)
c.725-14T>G (n.725-14T>G)
c.*211T>G (n.*211T>G)
c.392-14T>G (n.392-14T>G)
c.729T>G (p.Cys243Trp)
c.882T>G (p.Cys294Trp)
c.834T>G (p.Cys278Trp)
c.717T>G (p.Cys239Trp)
c.713-14T>G (n.713-14T>G)
3g.69951817A=CA1373443504MITFc.833-13A= (n.833-13A=)
c.830-13A= (n.830-13A=)
n.1055-13A=
c.806-13A= (n.806-13A=)
c.886A= (p.Ile296=)
c.565A= (p.Ile189=)
c.878-13A= (n.878-13A=)
c.881-13A= (n.881-13A=)
c.560-13A= (n.560-13A=)
c.838A= (p.Ile280=)
c.725-13A= (n.725-13A=)
c.*212A= (n.*212A=)
c.392-13A= (n.392-13A=)
c.730A= (p.Ile244=)
c.883A= (p.Ile295=)
c.835A= (p.Ile279=)
c.718A= (p.Ile240=)
c.713-13A= (n.713-13A=)
3g.69951817A>CCA353561510MITFc.833-13A>C (n.833-13A>C)
c.830-13A>C (n.830-13A>C)
n.1055-13A>C
c.806-13A>C (n.806-13A>C)
c.886A>C (p.Ile296Leu)
c.565A>C (p.Ile189Leu)
c.878-13A>C (n.878-13A>C)
c.881-13A>C (n.881-13A>C)
c.560-13A>C (n.560-13A>C)
c.838A>C (p.Ile280Leu)
c.725-13A>C (n.725-13A>C)
c.*212A>C (n.*212A>C)
c.392-13A>C (n.392-13A>C)
c.730A>C (p.Ile244Leu)
c.883A>C (p.Ile295Leu)
c.835A>C (p.Ile279Leu)
c.718A>C (p.Ile240Leu)
c.713-13A>C (n.713-13A>C)
3g.69951817A>GCA353561511MITFc.833-13A>G (n.833-13A>G)
c.830-13A>G (n.830-13A>G)
n.1055-13A>G
c.806-13A>G (n.806-13A>G)
c.886A>G (p.Ile296Val)
c.565A>G (p.Ile189Val)
c.878-13A>G (n.878-13A>G)
c.881-13A>G (n.881-13A>G)
c.560-13A>G (n.560-13A>G)
c.838A>G (p.Ile280Val)
c.725-13A>G (n.725-13A>G)
c.*212A>G (n.*212A>G)
c.392-13A>G (n.392-13A>G)
c.730A>G (p.Ile244Val)
c.883A>G (p.Ile295Val)
c.835A>G (p.Ile279Val)
c.718A>G (p.Ile240Val)
c.713-13A>G (n.713-13A>G)
 gnomAD v4
3g.69951817A>TCA353561512MITFc.833-13A>T (n.833-13A>T)
c.830-13A>T (n.830-13A>T)
n.1055-13A>T
c.806-13A>T (n.806-13A>T)
c.886A>T (p.Ile296Phe)
c.565A>T (p.Ile189Phe)
c.878-13A>T (n.878-13A>T)
c.881-13A>T (n.881-13A>T)
c.560-13A>T (n.560-13A>T)
c.838A>T (p.Ile280Phe)
c.725-13A>T (n.725-13A>T)
c.*212A>T (n.*212A>T)
c.392-13A>T (n.392-13A>T)
c.730A>T (p.Ile244Phe)
c.883A>T (p.Ile295Phe)
c.835A>T (p.Ile279Phe)
c.718A>T (p.Ile240Phe)
c.713-13A>T (n.713-13A>T)
3g.69951818T>ACA353561515MITFc.833-12T>A (n.833-12T>A)
c.830-12T>A (n.830-12T>A)
n.1055-12T>A
c.806-12T>A (n.806-12T>A)
c.887T>A (p.Ile296Asn)
c.566T>A (p.Ile189Asn)
c.878-12T>A (n.878-12T>A)
c.881-12T>A (n.881-12T>A)
c.560-12T>A (n.560-12T>A)
c.839T>A (p.Ile280Asn)
c.725-12T>A (n.725-12T>A)
c.*213T>A (n.*213T>A)
c.392-12T>A (n.392-12T>A)
c.731T>A (p.Ile244Asn)
c.884T>A (p.Ile295Asn)
c.836T>A (p.Ile279Asn)
c.719T>A (p.Ile240Asn)
c.713-12T>A (n.713-12T>A)
3g.69951818T>CCA353561514MITFc.833-12T>C (n.833-12T>C)
c.830-12T>C (n.830-12T>C)
n.1055-12T>C
c.806-12T>C (n.806-12T>C)
c.887T>C (p.Ile296Thr)
c.566T>C (p.Ile189Thr)
c.878-12T>C (n.878-12T>C)
c.881-12T>C (n.881-12T>C)
c.560-12T>C (n.560-12T>C)
c.839T>C (p.Ile280Thr)
c.725-12T>C (n.725-12T>C)
c.*213T>C (n.*213T>C)
c.392-12T>C (n.392-12T>C)
c.731T>C (p.Ile244Thr)
c.884T>C (p.Ile295Thr)
c.836T>C (p.Ile279Thr)
c.719T>C (p.Ile240Thr)
c.713-12T>C (n.713-12T>C)
3g.69951818T>GCA353561513MITFc.833-12T>G (n.833-12T>G)
c.830-12T>G (n.830-12T>G)
n.1055-12T>G
c.806-12T>G (n.806-12T>G)
c.887T>G (p.Ile296Ser)
c.566T>G (p.Ile189Ser)
c.878-12T>G (n.878-12T>G)
c.881-12T>G (n.881-12T>G)
c.560-12T>G (n.560-12T>G)
c.839T>G (p.Ile280Ser)
c.725-12T>G (n.725-12T>G)
c.*213T>G (n.*213T>G)
c.392-12T>G (n.392-12T>G)
c.731T>G (p.Ile244Ser)
c.884T>G (p.Ile295Ser)
c.836T>G (p.Ile279Ser)
c.719T>G (p.Ile240Ser)
c.713-12T>G (n.713-12T>G)
3g.69951822dupCA1373443507MITFc.833-8dup (n.833-8dup)
c.830-8dup (n.830-8dup)
n.1055-8dup
c.806-8dup (n.806-8dup)
c.891dup (p.Pro298SerfsTer5)
c.570dup (p.Pro191SerfsTer5)
c.878-8dup (n.878-8dup)
c.881-8dup (n.881-8dup)
c.560-8dup (n.560-8dup)
c.843dup (p.Pro282SerfsTer5)
c.725-8dup (n.725-8dup)
c.*217dup (n.*217dup)
c.392-8dup (n.392-8dup)
c.735dup (p.Pro246SerfsTer5)
c.888dup (p.Pro297SerfsTer5)
c.840dup (p.Pro281SerfsTer5)
c.723dup (p.Pro242SerfsTer5)
c.713-8dup (n.713-8dup)
 dbSNP
3g.69951822delCA2702972924MITFc.833-8del (n.833-8del)
c.830-8del (n.830-8del)
n.1055-8del
c.806-8del (n.806-8del)
c.891del (p.Thr299GlnfsTer20)
c.570del (p.Thr192GlnfsTer20)
c.878-8del (n.878-8del)
c.881-8del (n.881-8del)
c.560-8del (n.560-8del)
c.843del (p.Thr283GlnfsTer20)
c.725-8del (n.725-8del)
c.*217del (n.*217del)
c.392-8del (n.392-8del)
c.735del (p.Thr247GlnfsTer20)
c.888del (p.Thr298GlnfsTer20)
c.840del (p.Thr282GlnfsTer20)
c.723del (p.Thr243GlnfsTer20)
c.713-8del (n.713-8del)
 dbSNP
3g.69951818_69951825dupCA1373443508MITFc.833-12_833-5dup (n.833-12_833-5dup)
c.830-12_830-5dup (n.830-12_830-5dup)
n.1055-12_1055-5dup
c.806-12_806-5dup (n.806-12_806-5dup)
c.887_894dup (p.Thr299PhefsTer23)
c.566_573dup (p.Thr192PhefsTer23)
c.878-12_878-5dup (n.878-12_878-5dup)
c.881-12_881-5dup (n.881-12_881-5dup)
c.560-12_560-5dup (n.560-12_560-5dup)
c.839_846dup (p.Thr283PhefsTer23)
c.725-12_725-5dup (n.725-12_725-5dup)
c.*213_*220dup (n.*213_*220dup)
c.392-12_392-5dup (n.392-12_392-5dup)
c.731_738dup (p.Thr247PhefsTer23)
c.884_891dup (p.Thr298PhefsTer23)
c.836_843dup (p.Thr282PhefsTer23)
c.719_726dup (p.Thr243PhefsTer23)
c.713-12_713-5dup (n.713-12_713-5dup)
 dbSNP gnomAD v4
3g.69951819T>GCA353561516MITFc.833-11T>G (n.833-11T>G)
c.830-11T>G (n.830-11T>G)
n.1055-11T>G
c.806-11T>G (n.806-11T>G)
c.888T>G (p.Ile296Met)
c.567T>G (p.Ile189Met)
c.878-11T>G (n.878-11T>G)
c.881-11T>G (n.881-11T>G)
c.560-11T>G (n.560-11T>G)
c.840T>G (p.Ile280Met)
c.725-11T>G (n.725-11T>G)
c.*214T>G (n.*214T>G)
c.392-11T>G (n.392-11T>G)
c.732T>G (p.Ile244Met)
c.885T>G (p.Ile295Met)
c.837T>G (p.Ile279Met)
c.720T>G (p.Ile240Met)
c.713-11T>G (n.713-11T>G)
3g.69951820T>ACA353561517MITFc.833-10T>A (n.833-10T>A)
c.830-10T>A (n.830-10T>A)
n.1055-10T>A
c.806-10T>A (n.806-10T>A)
c.889T>A (p.Phe297Ile)
c.568T>A (p.Phe190Ile)
c.878-10T>A (n.878-10T>A)
c.881-10T>A (n.881-10T>A)
c.560-10T>A (n.560-10T>A)
c.841T>A (p.Phe281Ile)
c.725-10T>A (n.725-10T>A)
c.*215T>A (n.*215T>A)
c.392-10T>A (n.392-10T>A)
c.733T>A (p.Phe245Ile)
c.886T>A (p.Phe296Ile)
c.838T>A (p.Phe280Ile)
c.721T>A (p.Phe241Ile)
c.713-10T>A (n.713-10T>A)
3g.69951820T>CCA353561518MITFc.833-10T>C (n.833-10T>C)
c.830-10T>C (n.830-10T>C)
n.1055-10T>C
c.806-10T>C (n.806-10T>C)
c.889T>C (p.Phe297Leu)
c.568T>C (p.Phe190Leu)
c.878-10T>C (n.878-10T>C)
c.881-10T>C (n.881-10T>C)
c.560-10T>C (n.560-10T>C)
c.841T>C (p.Phe281Leu)
c.725-10T>C (n.725-10T>C)
c.*215T>C (n.*215T>C)
c.392-10T>C (n.392-10T>C)
c.733T>C (p.Phe245Leu)
c.886T>C (p.Phe296Leu)
c.838T>C (p.Phe280Leu)
c.721T>C (p.Phe241Leu)
c.713-10T>C (n.713-10T>C)
3g.69951820T>GCA353561519MITFc.833-10T>G (n.833-10T>G)
c.830-10T>G (n.830-10T>G)
n.1055-10T>G
c.806-10T>G (n.806-10T>G)
c.889T>G (p.Phe297Val)
c.568T>G (p.Phe190Val)
c.878-10T>G (n.878-10T>G)
c.881-10T>G (n.881-10T>G)
c.560-10T>G (n.560-10T>G)
c.841T>G (p.Phe281Val)
c.725-10T>G (n.725-10T>G)
c.*215T>G (n.*215T>G)
c.392-10T>G (n.392-10T>G)
c.733T>G (p.Phe245Val)
c.886T>G (p.Phe296Val)
c.838T>G (p.Phe280Val)
c.721T>G (p.Phe241Val)
c.713-10T>G (n.713-10T>G)
3g.69951821T>ACA353561520MITFc.833-9T>A (n.833-9T>A)
c.830-9T>A (n.830-9T>A)
n.1055-9T>A
c.806-9T>A (n.806-9T>A)
c.890T>A (p.Phe297Tyr)
c.569T>A (p.Phe190Tyr)
c.878-9T>A (n.878-9T>A)
c.881-9T>A (n.881-9T>A)
c.560-9T>A (n.560-9T>A)
c.842T>A (p.Phe281Tyr)
c.725-9T>A (n.725-9T>A)
c.*216T>A (n.*216T>A)
c.392-9T>A (n.392-9T>A)
c.734T>A (p.Phe245Tyr)
c.887T>A (p.Phe296Tyr)
c.839T>A (p.Phe280Tyr)
c.722T>A (p.Phe241Tyr)
c.713-9T>A (n.713-9T>A)
3g.69951821T>CCA353561521MITFc.833-9T>C (n.833-9T>C)
c.830-9T>C (n.830-9T>C)
n.1055-9T>C
c.806-9T>C (n.806-9T>C)
c.890T>C (p.Phe297Ser)
c.569T>C (p.Phe190Ser)
c.878-9T>C (n.878-9T>C)
c.881-9T>C (n.881-9T>C)
c.560-9T>C (n.560-9T>C)
c.842T>C (p.Phe281Ser)
c.725-9T>C (n.725-9T>C)
c.*216T>C (n.*216T>C)
c.392-9T>C (n.392-9T>C)
c.734T>C (p.Phe245Ser)
c.887T>C (p.Phe296Ser)
c.839T>C (p.Phe280Ser)
c.722T>C (p.Phe241Ser)
c.713-9T>C (n.713-9T>C)
 ClinVar
3g.69951821T>GCA353561522MITFc.833-9T>G (n.833-9T>G)
c.830-9T>G (n.830-9T>G)
n.1055-9T>G
c.806-9T>G (n.806-9T>G)
c.890T>G (p.Phe297Cys)
c.569T>G (p.Phe190Cys)
c.878-9T>G (n.878-9T>G)
c.881-9T>G (n.881-9T>G)
c.560-9T>G (n.560-9T>G)
c.842T>G (p.Phe281Cys)
c.725-9T>G (n.725-9T>G)
c.*216T>G (n.*216T>G)
c.392-9T>G (n.392-9T>G)
c.734T>G (p.Phe245Cys)
c.887T>G (p.Phe296Cys)
c.839T>G (p.Phe280Cys)
c.722T>G (p.Phe241Cys)
c.713-9T>G (n.713-9T>G)
3g.69951822T>ACA353561523MITFc.833-8T>A (n.833-8T>A)
c.830-8T>A (n.830-8T>A)
n.1055-8T>A
c.806-8T>A (n.806-8T>A)
c.891T>A (p.Phe297Leu)
c.570T>A (p.Phe190Leu)
c.878-8T>A (n.878-8T>A)
c.881-8T>A (n.881-8T>A)
c.560-8T>A (n.560-8T>A)
c.843T>A (p.Phe281Leu)
c.725-8T>A (n.725-8T>A)
c.*217T>A (n.*217T>A)
c.392-8T>A (n.392-8T>A)
c.735T>A (p.Phe245Leu)
c.888T>A (p.Phe296Leu)
c.840T>A (p.Phe280Leu)
c.723T>A (p.Phe241Leu)
c.713-8T>A (n.713-8T>A)
3g.69951822T>GCA353561524MITFc.833-8T>G (n.833-8T>G)
c.830-8T>G (n.830-8T>G)
n.1055-8T>G
c.806-8T>G (n.806-8T>G)
c.891T>G (p.Phe297Leu)
c.570T>G (p.Phe190Leu)
c.878-8T>G (n.878-8T>G)
c.881-8T>G (n.881-8T>G)
c.560-8T>G (n.560-8T>G)
c.843T>G (p.Phe281Leu)
c.725-8T>G (n.725-8T>G)
c.*217T>G (n.*217T>G)
c.392-8T>G (n.392-8T>G)
c.735T>G (p.Phe245Leu)
c.888T>G (p.Phe296Leu)
c.840T>G (p.Phe280Leu)
c.723T>G (p.Phe241Leu)
c.713-8T>G (n.713-8T>G)
3g.69951823C>ACA353561525MITFc.833-7C>A (n.833-7C>A)
c.830-7C>A (n.830-7C>A)
n.1055-7C>A
c.806-7C>A (n.806-7C>A)
c.892C>A (p.Pro298Thr)
c.571C>A (p.Pro191Thr)
c.878-7C>A (n.878-7C>A)
c.881-7C>A (n.881-7C>A)
c.560-7C>A (n.560-7C>A)
c.844C>A (p.Pro282Thr)
c.725-7C>A (n.725-7C>A)
c.*218C>A (n.*218C>A)
c.392-7C>A (n.392-7C>A)
c.736C>A (p.Pro246Thr)
c.889C>A (p.Pro297Thr)
c.841C>A (p.Pro281Thr)
c.724C>A (p.Pro242Thr)
c.713-7C>A (n.713-7C>A)
 dbSNP gnomAD v4
3g.69951823C>GCA353561526MITFc.833-7C>G (n.833-7C>G)
c.830-7C>G (n.830-7C>G)
n.1055-7C>G
c.806-7C>G (n.806-7C>G)
c.892C>G (p.Pro298Ala)
c.571C>G (p.Pro191Ala)
c.878-7C>G (n.878-7C>G)
c.881-7C>G (n.881-7C>G)
c.560-7C>G (n.560-7C>G)
c.844C>G (p.Pro282Ala)
c.725-7C>G (n.725-7C>G)
c.*218C>G (n.*218C>G)
c.392-7C>G (n.392-7C>G)
c.736C>G (p.Pro246Ala)
c.889C>G (p.Pro297Ala)
c.841C>G (p.Pro281Ala)
c.724C>G (p.Pro242Ala)
c.713-7C>G (n.713-7C>G)
3g.69951823C>TCA353561527MITFc.833-7C>T (n.833-7C>T)
c.830-7C>T (n.830-7C>T)
n.1055-7C>T
c.806-7C>T (n.806-7C>T)
c.892C>T (p.Pro298Ser)
c.571C>T (p.Pro191Ser)
c.878-7C>T (n.878-7C>T)
c.881-7C>T (n.881-7C>T)
c.560-7C>T (n.560-7C>T)
c.844C>T (p.Pro282Ser)
c.725-7C>T (n.725-7C>T)
c.*218C>T (n.*218C>T)
c.392-7C>T (n.392-7C>T)
c.736C>T (p.Pro246Ser)
c.889C>T (p.Pro297Ser)
c.841C>T (p.Pro281Ser)
c.724C>T (p.Pro242Ser)
c.713-7C>T (n.713-7C>T)
 dbSNP
3g.69951825dupCA2547354005MITFc.833-5dup (n.833-5dup)
c.830-5dup (n.830-5dup)
n.1055-5dup
c.806-5dup (n.806-5dup)
c.894dup (p.Thr299HisfsTer4)
c.573dup (p.Thr192HisfsTer4)
c.878-5dup (n.878-5dup)
c.881-5dup (n.881-5dup)
c.560-5dup (n.560-5dup)
c.846dup (p.Thr283HisfsTer4)
c.725-5dup (n.725-5dup)
c.*220dup (n.*220dup)
c.392-5dup (n.392-5dup)
c.738dup (p.Thr247HisfsTer4)
c.891dup (p.Thr298HisfsTer4)
c.843dup (p.Thr282HisfsTer4)
c.726dup (p.Thr243HisfsTer4)
c.713-5dup (n.713-5dup)
3g.69951824C>ACA353561528MITFc.833-6C>A (n.833-6C>A)
c.830-6C>A (n.830-6C>A)
n.1055-6C>A
c.806-6C>A (n.806-6C>A)
c.893C>A (p.Pro298His)
c.572C>A (p.Pro191His)
c.878-6C>A (n.878-6C>A)
c.881-6C>A (n.881-6C>A)
c.560-6C>A (n.560-6C>A)
c.845C>A (p.Pro282His)
c.725-6C>A (n.725-6C>A)
c.*219C>A (n.*219C>A)
c.392-6C>A (n.392-6C>A)
c.737C>A (p.Pro246His)
c.890C>A (p.Pro297His)
c.842C>A (p.Pro281His)
c.725C>A (p.Pro242His)
c.713-6C>A (n.713-6C>A)
3g.69951824C=CA1373443510MITFc.833-6C= (n.833-6C=)
c.830-6C= (n.830-6C=)
n.1055-6C=
c.806-6C= (n.806-6C=)
c.893C= (p.Pro298=)
c.572C= (p.Pro191=)
c.878-6C= (n.878-6C=)
c.881-6C= (n.881-6C=)
c.560-6C= (n.560-6C=)
c.845C= (p.Pro282=)
c.725-6C= (n.725-6C=)
c.*219C= (n.*219C=)
c.392-6C= (n.392-6C=)
c.737C= (p.Pro246=)
c.890C= (p.Pro297=)
c.842C= (p.Pro281=)
c.725C= (p.Pro242=)
c.713-6C= (n.713-6C=)
3g.69951824C>GCA353561530MITFc.833-6C>G (n.833-6C>G)
c.830-6C>G (n.830-6C>G)
n.1055-6C>G
c.806-6C>G (n.806-6C>G)
c.893C>G (p.Pro298Arg)
c.572C>G (p.Pro191Arg)
c.878-6C>G (n.878-6C>G)
c.881-6C>G (n.881-6C>G)
c.560-6C>G (n.560-6C>G)
c.845C>G (p.Pro282Arg)
c.725-6C>G (n.725-6C>G)
c.*219C>G (n.*219C>G)
c.392-6C>G (n.392-6C>G)
c.737C>G (p.Pro246Arg)
c.890C>G (p.Pro297Arg)
c.842C>G (p.Pro281Arg)
c.725C>G (p.Pro242Arg)
c.713-6C>G (n.713-6C>G)
3g.69951824C>TCA353561529MITFc.833-6C>T (n.833-6C>T)
c.830-6C>T (n.830-6C>T)
n.1055-6C>T
c.806-6C>T (n.806-6C>T)
c.893C>T (p.Pro298Leu)
c.572C>T (p.Pro191Leu)
c.878-6C>T (n.878-6C>T)
c.881-6C>T (n.881-6C>T)
c.560-6C>T (n.560-6C>T)
c.845C>T (p.Pro282Leu)
c.725-6C>T (n.725-6C>T)
c.*219C>T (n.*219C>T)
c.392-6C>T (n.392-6C>T)
c.737C>T (p.Pro246Leu)
c.890C>T (p.Pro297Leu)
c.842C>T (p.Pro281Leu)
c.725C>T (p.Pro242Leu)
c.713-6C>T (n.713-6C>T)
 dbSNP
3g.69951825C>ACA77002070MITFc.833-5C>A (n.833-5C>A)
c.830-5C>A (n.830-5C>A)
n.1055-5C>A
c.806-5C>A (n.806-5C>A)
c.894C>A (p.Pro298=)
c.573C>A (p.Pro191=)
c.878-5C>A (n.878-5C>A)
c.881-5C>A (n.881-5C>A)
c.560-5C>A (n.560-5C>A)
c.846C>A (p.Pro282=)
c.725-5C>A (n.725-5C>A)
c.*220C>A (n.*220C>A)
c.392-5C>A (n.392-5C>A)
c.738C>A (p.Pro246=)
c.891C>A (p.Pro297=)
c.843C>A (p.Pro281=)
c.726C>A (p.Pro242=)
c.713-5C>A (n.713-5C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69951825C=CA1373443512MITFc.833-5C= (n.833-5C=)
c.830-5C= (n.830-5C=)
n.1055-5C=
c.806-5C= (n.806-5C=)
c.894C= (p.Pro298=)
c.573C= (p.Pro191=)
c.878-5C= (n.878-5C=)
c.881-5C= (n.881-5C=)
c.560-5C= (n.560-5C=)
c.846C= (p.Pro282=)
c.725-5C= (n.725-5C=)
c.*220C= (n.*220C=)
c.392-5C= (n.392-5C=)
c.738C= (p.Pro246=)
c.891C= (p.Pro297=)
c.843C= (p.Pro281=)
c.726C= (p.Pro242=)
c.713-5C= (n.713-5C=)
3g.69951825C>TCA2666480718MITFc.833-5C>T (n.833-5C>T)
c.830-5C>T (n.830-5C>T)
n.1055-5C>T
c.806-5C>T (n.806-5C>T)
c.894C>T (p.Pro298=)
c.573C>T (p.Pro191=)
c.878-5C>T (n.878-5C>T)
c.881-5C>T (n.881-5C>T)
c.560-5C>T (n.560-5C>T)
c.846C>T (p.Pro282=)
c.725-5C>T (n.725-5C>T)
c.*220C>T (n.*220C>T)
c.392-5C>T (n.392-5C>T)
c.738C>T (p.Pro246=)
c.891C>T (p.Pro297=)
c.843C>T (p.Pro281=)
c.726C>T (p.Pro242=)
c.713-5C>T (n.713-5C>T)
 gnomAD v4
3g.69951827_69951828delCA2666480717MITFc.833-3_833-2del (n.833-3_833-2del)
c.830-3_830-2del (n.830-3_830-2del)
n.1055-3_1055-2del
c.806-3_806-2del (n.806-3_806-2del)
c.896_897del (p.Thr299ArgfsTer3)
c.575_576del (p.Thr192ArgfsTer3)
c.878-3_878-2del (n.878-3_878-2del)
c.881-3_881-2del (n.881-3_881-2del)
c.560-3_560-2del (n.560-3_560-2del)
c.848_849del (p.Thr283ArgfsTer3)
c.725-3_725-2del (n.725-3_725-2del)
c.*222_*223del (n.*222_*223del)
c.392-3_392-2del (n.392-3_392-2del)
c.740_741del (p.Thr247ArgfsTer3)
c.893_894del (p.Thr298ArgfsTer3)
c.845_846del (p.Thr282ArgfsTer3)
c.728_729del (p.Thr243ArgfsTer3)
c.713-3_713-2del (n.713-3_713-2del)
 gnomAD v4
3g.69951826A=CA1373443515MITFc.833-4A= (n.833-4A=)
c.830-4A= (n.830-4A=)
n.1055-4A=
c.806-4A= (n.806-4A=)
c.895A= (p.Thr299=)
c.574A= (p.Thr192=)
c.878-4A= (n.878-4A=)
c.881-4A= (n.881-4A=)
c.560-4A= (n.560-4A=)
c.847A= (p.Thr283=)
c.725-4A= (n.725-4A=)
c.*221A= (n.*221A=)
c.392-4A= (n.392-4A=)
c.739A= (p.Thr247=)
c.892A= (p.Thr298=)
c.844A= (p.Thr282=)
c.727A= (p.Thr243=)
c.713-4A= (n.713-4A=)
3g.69951826A>CCA353561532MITFc.833-4A>C (n.833-4A>C)
c.830-4A>C (n.830-4A>C)
n.1055-4A>C
c.806-4A>C (n.806-4A>C)
c.895A>C (p.Thr299Pro)
c.574A>C (p.Thr192Pro)
c.878-4A>C (n.878-4A>C)
c.881-4A>C (n.881-4A>C)
c.560-4A>C (n.560-4A>C)
c.847A>C (p.Thr283Pro)
c.725-4A>C (n.725-4A>C)
c.*221A>C (n.*221A>C)
c.392-4A>C (n.392-4A>C)
c.739A>C (p.Thr247Pro)
c.892A>C (p.Thr298Pro)
c.844A>C (p.Thr282Pro)
c.727A>C (p.Thr243Pro)
c.713-4A>C (n.713-4A>C)
3g.69951826A>GCA353561531MITFc.833-4A>G (n.833-4A>G)
c.830-4A>G (n.830-4A>G)
n.1055-4A>G
c.806-4A>G (n.806-4A>G)
c.895A>G (p.Thr299Ala)
c.574A>G (p.Thr192Ala)
c.878-4A>G (n.878-4A>G)
c.881-4A>G (n.881-4A>G)
c.560-4A>G (n.560-4A>G)
c.847A>G (p.Thr283Ala)
c.725-4A>G (n.725-4A>G)
c.*221A>G (n.*221A>G)
c.392-4A>G (n.392-4A>G)
c.739A>G (p.Thr247Ala)
c.892A>G (p.Thr298Ala)
c.844A>G (p.Thr282Ala)
c.727A>G (p.Thr243Ala)
c.713-4A>G (n.713-4A>G)
 gnomAD v4
3g.69951826A>TCA353561533MITFc.833-4A>T (n.833-4A>T)
c.830-4A>T (n.830-4A>T)
n.1055-4A>T
c.806-4A>T (n.806-4A>T)
c.895A>T (p.Thr299Ser)
c.574A>T (p.Thr192Ser)
c.878-4A>T (n.878-4A>T)
c.881-4A>T (n.881-4A>T)
c.560-4A>T (n.560-4A>T)
c.847A>T (p.Thr283Ser)
c.725-4A>T (n.725-4A>T)
c.*221A>T (n.*221A>T)
c.392-4A>T (n.392-4A>T)
c.739A>T (p.Thr247Ser)
c.892A>T (p.Thr298Ser)
c.844A>T (p.Thr282Ser)
c.727A>T (p.Thr243Ser)
c.713-4A>T (n.713-4A>T)
 dbSNP
3g.69951827delCA2586972641MITFc.833-3del (n.833-3del)
c.830-3del (n.830-3del)
n.1055-3del
c.806-3del (n.806-3del)
c.896del (p.Thr299LysfsTer20)
c.575del (p.Thr192LysfsTer20)
c.878-3del (n.878-3del)
c.881-3del (n.881-3del)
c.560-3del (n.560-3del)
c.848del (p.Thr283LysfsTer20)
c.725-3del (n.725-3del)
c.*222del (n.*222del)
c.392-3del (n.392-3del)
c.740del (p.Thr247LysfsTer20)
c.893del (p.Thr298LysfsTer20)
c.845del (p.Thr282LysfsTer20)
c.728del (p.Thr243LysfsTer20)
c.713-3del (n.713-3del)
3g.69951827C>ACA353561534MITFc.833-3C>A (n.833-3C>A)
c.830-3C>A (n.830-3C>A)
n.1055-3C>A
c.806-3C>A (n.806-3C>A)
c.896C>A (p.Thr299Lys)
c.575C>A (p.Thr192Lys)
c.878-3C>A (n.878-3C>A)
c.881-3C>A (n.881-3C>A)
c.560-3C>A (n.560-3C>A)
c.848C>A (p.Thr283Lys)
c.725-3C>A (n.725-3C>A)
c.*222C>A (n.*222C>A)
c.392-3C>A (n.392-3C>A)
c.740C>A (p.Thr247Lys)
c.893C>A (p.Thr298Lys)
c.845C>A (p.Thr282Lys)
c.728C>A (p.Thr243Lys)
c.713-3C>A (n.713-3C>A)
 dbSNP
3g.69951827C>GCA353561536MITFc.833-3C>G (n.833-3C>G)
c.830-3C>G (n.830-3C>G)
n.1055-3C>G
c.806-3C>G (n.806-3C>G)
c.896C>G (p.Thr299Arg)
c.575C>G (p.Thr192Arg)
c.878-3C>G (n.878-3C>G)
c.881-3C>G (n.881-3C>G)
c.560-3C>G (n.560-3C>G)
c.848C>G (p.Thr283Arg)
c.725-3C>G (n.725-3C>G)
c.*222C>G (n.*222C>G)
c.392-3C>G (n.392-3C>G)
c.740C>G (p.Thr247Arg)
c.893C>G (p.Thr298Arg)
c.845C>G (p.Thr282Arg)
c.728C>G (p.Thr243Arg)
c.713-3C>G (n.713-3C>G)
3g.69951827C>TCA353561535MITFc.833-3C>T (n.833-3C>T)
c.830-3C>T (n.830-3C>T)
n.1055-3C>T
c.806-3C>T (n.806-3C>T)
c.896C>T (p.Thr299Ile)
c.575C>T (p.Thr192Ile)
c.878-3C>T (n.878-3C>T)
c.881-3C>T (n.881-3C>T)
c.560-3C>T (n.560-3C>T)
c.848C>T (p.Thr283Ile)
c.725-3C>T (n.725-3C>T)
c.*222C>T (n.*222C>T)
c.392-3C>T (n.392-3C>T)
c.740C>T (p.Thr247Ile)
c.893C>T (p.Thr298Ile)
c.845C>T (p.Thr282Ile)
c.728C>T (p.Thr243Ile)
c.713-3C>T (n.713-3C>T)
 dbSNP
3g.69951828A>CCA353561537MITFc.833-2A>C (n.833-2A>C)
c.830-2A>C (n.830-2A>C)
n.1055-2A>C
c.806-2A>C (n.806-2A>C)
c.897A>C (p.Thr299=)
c.576A>C (p.Thr192=)
c.878-2A>C (n.878-2A>C)
c.881-2A>C (n.881-2A>C)
c.560-2A>C (n.560-2A>C)
c.849A>C (p.Thr283=)
c.725-2A>C (n.725-2A>C)
c.*223A>C (n.*223A>C)
c.392-2A>C (n.392-2A>C)
c.741A>C (p.Thr247=)
c.894A>C (p.Thr298=)
c.846A>C (p.Thr282=)
c.729A>C (p.Thr243=)
c.713-2A>C (n.713-2A>C)
3g.69951828A>GCA353561538MITFc.833-2A>G (n.833-2A>G)
c.830-2A>G (n.830-2A>G)
n.1055-2A>G
c.806-2A>G (n.806-2A>G)
c.897A>G (p.Thr299=)
c.576A>G (p.Thr192=)
c.878-2A>G (n.878-2A>G)
c.881-2A>G (n.881-2A>G)
c.560-2A>G (n.560-2A>G)
c.849A>G (p.Thr283=)
c.725-2A>G (n.725-2A>G)
c.*223A>G (n.*223A>G)
c.392-2A>G (n.392-2A>G)
c.741A>G (p.Thr247=)
c.894A>G (p.Thr298=)
c.846A>G (p.Thr282=)
c.729A>G (p.Thr243=)
c.713-2A>G (n.713-2A>G)
3g.69951828A>TCA353561539MITFc.833-2A>T (n.833-2A>T)
c.830-2A>T (n.830-2A>T)
n.1055-2A>T
c.806-2A>T (n.806-2A>T)
c.897A>T (p.Thr299=)
c.576A>T (p.Thr192=)
c.878-2A>T (n.878-2A>T)
c.881-2A>T (n.881-2A>T)
c.560-2A>T (n.560-2A>T)
c.849A>T (p.Thr283=)
c.725-2A>T (n.725-2A>T)
c.*223A>T (n.*223A>T)
c.392-2A>T (n.392-2A>T)
c.741A>T (p.Thr247=)
c.894A>T (p.Thr298=)
c.846A>T (p.Thr282=)
c.729A>T (p.Thr243=)
c.713-2A>T (n.713-2A>T)
3g.69951830_69951831delCA2580616496MITFc.833_834del
c.830_831del
n.1055_1056del
c.806_807del
c.899_900del (p.Glu300ValfsTer2)
c.578_579del (p.Glu193ValfsTer2)
c.878_879del
c.881_882del
c.560_561del
c.851_852del (p.Glu284ValfsTer2)
c.725_726del
c.*225_*226del (n.*225_*226del)
c.392_393del
c.743_744del (p.Glu248ValfsTer2)
c.896_897del (p.Glu299ValfsTer2)
c.848_849del (p.Glu283ValfsTer2)
c.731_732del (p.Glu244ValfsTer2)
c.713_714del
 ClinVar dbSNP
3g.69951829G>ACA353561540MITFc.833-1G>A (n.833-1G>A)
c.830-1G>A (n.830-1G>A)
n.1055-1G>A
c.806-1G>A (n.806-1G>A)
c.898G>A (p.Glu300Lys)
c.577G>A (p.Glu193Lys)
c.878-1G>A (n.878-1G>A)
c.881-1G>A (n.881-1G>A)
c.560-1G>A (n.560-1G>A)
c.850G>A (p.Glu284Lys)
c.725-1G>A (n.725-1G>A)
c.*224G>A (n.*224G>A)
c.392-1G>A (n.392-1G>A)
c.742G>A (p.Glu248Lys)
c.895G>A (p.Glu299Lys)
c.847G>A (p.Glu283Lys)
c.730G>A (p.Glu244Lys)
c.713-1G>A (n.713-1G>A)
3g.69951829G>CCA353561541MITFc.833-1G>C (n.833-1G>C)
c.830-1G>C (n.830-1G>C)
n.1055-1G>C
c.806-1G>C (n.806-1G>C)
c.898G>C (p.Glu300Gln)
c.577G>C (p.Glu193Gln)
c.878-1G>C (n.878-1G>C)
c.881-1G>C (n.881-1G>C)
c.560-1G>C (n.560-1G>C)
c.850G>C (p.Glu284Gln)
c.725-1G>C (n.725-1G>C)
c.*224G>C (n.*224G>C)
c.392-1G>C (n.392-1G>C)
c.742G>C (p.Glu248Gln)
c.895G>C (p.Glu299Gln)
c.847G>C (p.Glu283Gln)
c.730G>C (p.Glu244Gln)
c.713-1G>C (n.713-1G>C)
 gnomAD v4
3g.69951829G>TCA353561542MITFc.833-1G>T (n.833-1G>T)
c.830-1G>T (n.830-1G>T)
n.1055-1G>T
c.806-1G>T (n.806-1G>T)
c.898G>T (p.Glu300Ter)
c.577G>T (p.Glu193Ter)
c.878-1G>T (n.878-1G>T)
c.881-1G>T (n.881-1G>T)
c.560-1G>T (n.560-1G>T)
c.850G>T (p.Glu284Ter)
c.725-1G>T (n.725-1G>T)
c.*224G>T (n.*224G>T)
c.392-1G>T (n.392-1G>T)
c.742G>T (p.Glu248Ter)
c.895G>T (p.Glu299Ter)
c.847G>T (p.Glu283Ter)
c.730G>T (p.Glu244Ter)
c.713-1G>T (n.713-1G>T)
3g.69951830A>CCA353561543MITFc.833A>C (p.Glu278Ala)
c.830A>C (p.Glu277Ala)
n.1055A>C
c.806A>C (p.Glu269Ala)
c.899A>C (p.Glu300Ala)
c.578A>C (p.Glu193Ala)
c.878A>C (p.Glu293Ala)
c.881A>C (p.Glu294Ala)
c.560A>C (p.Glu187Ala)
c.851A>C (p.Glu284Ala)
c.725A>C (p.Glu242Ala)
c.*225A>C (n.*225A>C)
c.392A>C (p.Glu131Ala)
c.743A>C (p.Glu248Ala)
c.896A>C (p.Glu299Ala)
c.848A>C (p.Glu283Ala)
c.731A>C (p.Glu244Ala)
c.713A>C (p.Glu238Ala)
3g.69951830A>GCA353561544MITFc.833A>G (p.Glu278Gly)
c.830A>G (p.Glu277Gly)
n.1055A>G
c.806A>G (p.Glu269Gly)
c.899A>G (p.Glu300Gly)
c.578A>G (p.Glu193Gly)
c.878A>G (p.Glu293Gly)
c.881A>G (p.Glu294Gly)
c.560A>G (p.Glu187Gly)
c.851A>G (p.Glu284Gly)
c.725A>G (p.Glu242Gly)
c.*225A>G (n.*225A>G)
c.392A>G (p.Glu131Gly)
c.743A>G (p.Glu248Gly)
c.896A>G (p.Glu299Gly)
c.848A>G (p.Glu283Gly)
c.731A>G (p.Glu244Gly)
c.713A>G (p.Glu238Gly)
3g.69951830A>TCA353561545MITFc.833A>T (p.Glu278Val)
c.830A>T (p.Glu277Val)
n.1055A>T
c.806A>T (p.Glu269Val)
c.899A>T (p.Glu300Val)
c.578A>T (p.Glu193Val)
c.878A>T (p.Glu293Val)
c.881A>T (p.Glu294Val)
c.560A>T (p.Glu187Val)
c.851A>T (p.Glu284Val)
c.725A>T (p.Glu242Val)
c.*225A>T (n.*225A>T)
c.392A>T (p.Glu131Val)
c.743A>T (p.Glu248Val)
c.896A>T (p.Glu299Val)
c.848A>T (p.Glu283Val)
c.731A>T (p.Glu244Val)
c.713A>T (p.Glu238Val)
3g.69951831G>ACA77002071MITFc.834G>A (p.Glu278=)
c.831G>A (p.Glu277=)
n.1056G>A
c.807G>A (p.Glu269=)
c.900G>A (p.Glu300=)
c.579G>A (p.Glu193=)
c.879G>A (p.Glu293=)
c.882G>A (p.Glu294=)
c.561G>A (p.Glu187=)
c.852G>A (p.Glu284=)
c.726G>A (p.Glu242=)
c.*226G>A (n.*226G>A)
c.393G>A (p.Glu131=)
c.744G>A (p.Glu248=)
c.897G>A (p.Glu299=)
c.849G>A (p.Glu283=)
c.732G>A (p.Glu244=)
c.714G>A (p.Glu238=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.69951831G>CCA353561546MITFc.834G>C (p.Glu278Asp)
c.831G>C (p.Glu277Asp)
n.1056G>C
c.807G>C (p.Glu269Asp)
c.900G>C (p.Glu300Asp)
c.579G>C (p.Glu193Asp)
c.879G>C (p.Glu293Asp)
c.882G>C (p.Glu294Asp)
c.561G>C (p.Glu187Asp)
c.852G>C (p.Glu284Asp)
c.726G>C (p.Glu242Asp)
c.*226G>C (n.*226G>C)
c.393G>C (p.Glu131Asp)
c.744G>C (p.Glu248Asp)
c.897G>C (p.Glu299Asp)
c.849G>C (p.Glu283Asp)
c.732G>C (p.Glu244Asp)
c.714G>C (p.Glu238Asp)
3g.69951831G=CA1373443517MITFc.834G= (p.Glu278=)
c.831G= (p.Glu277=)
n.1056G=
c.807G= (p.Glu269=)
c.900G= (p.Glu300=)
c.579G= (p.Glu193=)
c.879G= (p.Glu293=)
c.882G= (p.Glu294=)
c.561G= (p.Glu187=)
c.852G= (p.Glu284=)
c.726G= (p.Glu242=)
c.*226G= (n.*226G=)
c.393G= (p.Glu131=)
c.744G= (p.Glu248=)
c.897G= (p.Glu299=)
c.849G= (p.Glu283=)
c.732G= (p.Glu244=)
c.714G= (p.Glu238=)
3g.69951831G>TCA353561547MITFc.834G>T (p.Glu278Asp)
c.831G>T (p.Glu277Asp)
n.1056G>T
c.807G>T (p.Glu269Asp)
c.900G>T (p.Glu300Asp)
c.579G>T (p.Glu193Asp)
c.879G>T (p.Glu293Asp)
c.882G>T (p.Glu294Asp)
c.561G>T (p.Glu187Asp)
c.852G>T (p.Glu284Asp)
c.726G>T (p.Glu242Asp)
c.*226G>T (n.*226G>T)
c.393G>T (p.Glu131Asp)
c.744G>T (p.Glu248Asp)
c.897G>T (p.Glu299Asp)
c.849G>T (p.Glu283Asp)
c.732G>T (p.Glu244Asp)
c.714G>T (p.Glu238Asp)
3g.69951832T>ACA353561550MITFc.835T>A (p.Ser279Thr)
c.832T>A (p.Ser278Thr)
n.1057T>A
c.808T>A (p.Ser270Thr)
c.901T>A (p.Ser301Thr)
c.580T>A (p.Ser194Thr)
c.880T>A (p.Ser294Thr)
c.883T>A (p.Ser295Thr)
c.562T>A (p.Ser188Thr)
c.853T>A (p.Ser285Thr)
c.727T>A (p.Ser243Thr)
c.*227T>A (n.*227T>A)
c.394T>A (p.Ser132Thr)
c.745T>A (p.Ser249Thr)
c.898T>A (p.Ser300Thr)
c.850T>A (p.Ser284Thr)
c.733T>A (p.Ser245Thr)
c.715T>A (p.Ser239Thr)
 dbSNP
3g.69951832T>CCA353561549MITFc.835T>C (p.Ser279Pro)
c.832T>C (p.Ser278Pro)
n.1057T>C
c.808T>C (p.Ser270Pro)
c.901T>C (p.Ser301Pro)
c.580T>C (p.Ser194Pro)
c.880T>C (p.Ser294Pro)
c.883T>C (p.Ser295Pro)
c.562T>C (p.Ser188Pro)
c.853T>C (p.Ser285Pro)
c.727T>C (p.Ser243Pro)
c.*227T>C (n.*227T>C)
c.394T>C (p.Ser132Pro)
c.745T>C (p.Ser249Pro)
c.898T>C (p.Ser300Pro)
c.850T>C (p.Ser284Pro)
c.733T>C (p.Ser245Pro)
c.715T>C (p.Ser239Pro)
3g.69951832T>GCA353561548MITFc.835T>G (p.Ser279Ala)
c.832T>G (p.Ser278Ala)
n.1057T>G
c.808T>G (p.Ser270Ala)
c.901T>G (p.Ser301Ala)
c.580T>G (p.Ser194Ala)
c.880T>G (p.Ser294Ala)
c.883T>G (p.Ser295Ala)
c.562T>G (p.Ser188Ala)
c.853T>G (p.Ser285Ala)
c.727T>G (p.Ser243Ala)
c.*227T>G (n.*227T>G)
c.394T>G (p.Ser132Ala)
c.745T>G (p.Ser249Ala)
c.898T>G (p.Ser300Ala)
c.850T>G (p.Ser284Ala)
c.733T>G (p.Ser245Ala)
c.715T>G (p.Ser239Ala)
3g.69951833C>ACA353561552MITFc.836C>A (p.Ser279Tyr)
c.833C>A (p.Ser278Tyr)
n.1058C>A
c.809C>A (p.Ser270Tyr)
c.902C>A (p.Ser301Tyr)
c.581C>A (p.Ser194Tyr)
c.881C>A (p.Ser294Tyr)
c.884C>A (p.Ser295Tyr)
c.563C>A (p.Ser188Tyr)
c.854C>A (p.Ser285Tyr)
c.728C>A (p.Ser243Tyr)
c.*228C>A (n.*228C>A)
c.395C>A (p.Ser132Tyr)
c.746C>A (p.Ser249Tyr)
c.899C>A (p.Ser300Tyr)
c.851C>A (p.Ser284Tyr)
c.734C>A (p.Ser245Tyr)
c.716C>A (p.Ser239Tyr)
3g.69951833C>GCA353561553MITFc.836C>G (p.Ser279Cys)
c.833C>G (p.Ser278Cys)
n.1058C>G
c.809C>G (p.Ser270Cys)
c.902C>G (p.Ser301Cys)
c.581C>G (p.Ser194Cys)
c.881C>G (p.Ser294Cys)
c.884C>G (p.Ser295Cys)
c.563C>G (p.Ser188Cys)
c.854C>G (p.Ser285Cys)
c.728C>G (p.Ser243Cys)
c.*228C>G (n.*228C>G)
c.395C>G (p.Ser132Cys)
c.746C>G (p.Ser249Cys)
c.899C>G (p.Ser300Cys)
c.851C>G (p.Ser284Cys)
c.734C>G (p.Ser245Cys)
c.716C>G (p.Ser239Cys)
3g.69951833C>TCA353561554MITFc.836C>T (p.Ser279Phe)
c.833C>T (p.Ser278Phe)
n.1058C>T
c.809C>T (p.Ser270Phe)
c.902C>T (p.Ser301Phe)
c.581C>T (p.Ser194Phe)
c.881C>T (p.Ser294Phe)
c.884C>T (p.Ser295Phe)
c.563C>T (p.Ser188Phe)
c.854C>T (p.Ser285Phe)
c.728C>T (p.Ser243Phe)
c.*228C>T (n.*228C>T)
c.395C>T (p.Ser132Phe)
c.746C>T (p.Ser249Phe)
c.899C>T (p.Ser300Phe)
c.851C>T (p.Ser284Phe)
c.734C>T (p.Ser245Phe)
c.716C>T (p.Ser239Phe)
3g.69951834T>ACA434306266MITFc.837T>A (p.Ser279=)
c.834T>A (p.Ser278=)
n.1059T>A
c.810T>A (p.Ser270=)
c.903T>A (p.Ser301=)
c.582T>A (p.Ser194=)
c.882T>A (p.Ser294=)
c.885T>A (p.Ser295=)
c.564T>A (p.Ser188=)
c.855T>A (p.Ser285=)
c.729T>A (p.Ser243=)
c.*229T>A (n.*229T>A)
c.396T>A (p.Ser132=)
c.747T>A (p.Ser249=)
c.900T>A (p.Ser300=)
c.852T>A (p.Ser284=)
c.735T>A (p.Ser245=)
c.717T>A (p.Ser239=)
3g.69951834T>CCA434306267MITFc.837T>C (p.Ser279=)
c.834T>C (p.Ser278=)
n.1059T>C
c.810T>C (p.Ser270=)
c.903T>C (p.Ser301=)
c.582T>C (p.Ser194=)
c.882T>C (p.Ser294=)
c.885T>C (p.Ser295=)
c.564T>C (p.Ser188=)
c.855T>C (p.Ser285=)
c.729T>C (p.Ser243=)
c.*229T>C (n.*229T>C)
c.396T>C (p.Ser132=)
c.747T>C (p.Ser249=)
c.900T>C (p.Ser300=)
c.852T>C (p.Ser284=)
c.735T>C (p.Ser245=)
c.717T>C (p.Ser239=)
3g.69951834T>GCA434306268MITFc.837T>G (p.Ser279=)
c.834T>G (p.Ser278=)
n.1059T>G
c.810T>G (p.Ser270=)
c.903T>G (p.Ser301=)
c.582T>G (p.Ser194=)
c.882T>G (p.Ser294=)
c.885T>G (p.Ser295=)
c.564T>G (p.Ser188=)
c.855T>G (p.Ser285=)
c.729T>G (p.Ser243=)
c.*229T>G (n.*229T>G)
c.396T>G (p.Ser132=)
c.747T>G (p.Ser249=)
c.900T>G (p.Ser300=)
c.852T>G (p.Ser284=)
c.735T>G (p.Ser245=)
c.717T>G (p.Ser239=)
3g.69951835G>ACA353561555MITFc.838G>A (p.Glu280Lys)
c.835G>A (p.Glu279Lys)
n.1060G>A
c.811G>A (p.Glu271Lys)
c.904G>A (p.Glu302Lys)
c.583G>A (p.Glu195Lys)
c.883G>A (p.Glu295Lys)
c.886G>A (p.Glu296Lys)
c.565G>A (p.Glu189Lys)
c.856G>A (p.Glu286Lys)
c.730G>A (p.Glu244Lys)
c.*230G>A (n.*230G>A)
c.397G>A (p.Glu133Lys)
c.748G>A (p.Glu250Lys)
c.901G>A (p.Glu301Lys)
c.853G>A (p.Glu285Lys)
c.736G>A (p.Glu246Lys)
c.718G>A (p.Glu240Lys)
3g.69951835G>CCA353561556MITFc.838G>C (p.Glu280Gln)
c.835G>C (p.Glu279Gln)
n.1060G>C
c.811G>C (p.Glu271Gln)
c.904G>C (p.Glu302Gln)
c.583G>C (p.Glu195Gln)
c.883G>C (p.Glu295Gln)
c.886G>C (p.Glu296Gln)
c.565G>C (p.Glu189Gln)
c.856G>C (p.Glu286Gln)
c.730G>C (p.Glu244Gln)
c.*230G>C (n.*230G>C)
c.397G>C (p.Glu133Gln)
c.748G>C (p.Glu250Gln)
c.901G>C (p.Glu301Gln)
c.853G>C (p.Glu285Gln)
c.736G>C (p.Glu246Gln)
c.718G>C (p.Glu240Gln)
3g.69951835G>TCA353561557MITFc.838G>T (p.Glu280Ter)
c.835G>T (p.Glu279Ter)
n.1060G>T
c.811G>T (p.Glu271Ter)
c.904G>T (p.Glu302Ter)
c.583G>T (p.Glu195Ter)
c.883G>T (p.Glu295Ter)
c.886G>T (p.Glu296Ter)
c.565G>T (p.Glu189Ter)
c.856G>T (p.Glu286Ter)
c.730G>T (p.Glu244Ter)
c.*230G>T (n.*230G>T)
c.397G>T (p.Glu133Ter)
c.748G>T (p.Glu250Ter)
c.901G>T (p.Glu301Ter)
c.853G>T (p.Glu285Ter)
c.736G>T (p.Glu246Ter)
c.718G>T (p.Glu240Ter)
3g.69951836A>CCA353561558MITFc.839A>C (p.Glu280Ala)
c.836A>C (p.Glu279Ala)
n.1061A>C
c.812A>C (p.Glu271Ala)
c.905A>C (p.Glu302Ala)
c.584A>C (p.Glu195Ala)
c.884A>C (p.Glu295Ala)
c.887A>C (p.Glu296Ala)
c.566A>C (p.Glu189Ala)
c.857A>C (p.Glu286Ala)
c.731A>C (p.Glu244Ala)
c.*231A>C (n.*231A>C)
c.398A>C (p.Glu133Ala)
c.749A>C (p.Glu250Ala)
c.902A>C (p.Glu301Ala)
c.854A>C (p.Glu285Ala)
c.737A>C (p.Glu246Ala)
c.719A>C (p.Glu240Ala)
3g.69951836A>GCA353561559MITFc.839A>G (p.Glu280Gly)
c.836A>G (p.Glu279Gly)
n.1061A>G
c.812A>G (p.Glu271Gly)
c.905A>G (p.Glu302Gly)
c.584A>G (p.Glu195Gly)
c.884A>G (p.Glu295Gly)
c.887A>G (p.Glu296Gly)
c.566A>G (p.Glu189Gly)
c.857A>G (p.Glu286Gly)
c.731A>G (p.Glu244Gly)
c.*231A>G (n.*231A>G)
c.398A>G (p.Glu133Gly)
c.749A>G (p.Glu250Gly)
c.902A>G (p.Glu301Gly)
c.854A>G (p.Glu285Gly)
c.737A>G (p.Glu246Gly)
c.719A>G (p.Glu240Gly)
3g.69951836A>TCA353561560MITFc.839A>T (p.Glu280Val)
c.836A>T (p.Glu279Val)
n.1061A>T
c.812A>T (p.Glu271Val)
c.905A>T (p.Glu302Val)
c.584A>T (p.Glu195Val)
c.884A>T (p.Glu295Val)
c.887A>T (p.Glu296Val)
c.566A>T (p.Glu189Val)
c.857A>T (p.Glu286Val)
c.731A>T (p.Glu244Val)
c.*231A>T (n.*231A>T)
c.398A>T (p.Glu133Val)
c.749A>T (p.Glu250Val)
c.902A>T (p.Glu301Val)
c.854A>T (p.Glu285Val)
c.737A>T (p.Glu246Val)
c.719A>T (p.Glu240Val)
3g.69951837A>CCA353561561MITFc.840A>C (p.Glu280Asp)
c.837A>C (p.Glu279Asp)
n.1062A>C
c.813A>C (p.Glu271Asp)
c.906A>C (p.Glu302Asp)
c.585A>C (p.Glu195Asp)
c.885A>C (p.Glu295Asp)
c.888A>C (p.Glu296Asp)
c.567A>C (p.Glu189Asp)
c.858A>C (p.Glu286Asp)
c.732A>C (p.Glu244Asp)
c.*232A>C (n.*232A>C)
c.399A>C (p.Glu133Asp)
c.750A>C (p.Glu250Asp)
c.903A>C (p.Glu301Asp)
c.855A>C (p.Glu285Asp)
c.738A>C (p.Glu246Asp)
c.720A>C (p.Glu240Asp)
3g.69951837A>GCA434306269MITFc.840A>G (p.Glu280=)
c.837A>G (p.Glu279=)
n.1062A>G
c.813A>G (p.Glu271=)
c.906A>G (p.Glu302=)
c.585A>G (p.Glu195=)
c.885A>G (p.Glu295=)
c.888A>G (p.Glu296=)
c.567A>G (p.Glu189=)
c.858A>G (p.Glu286=)
c.732A>G (p.Glu244=)
c.*232A>G (n.*232A>G)
c.399A>G (p.Glu133=)
c.750A>G (p.Glu250=)
c.903A>G (p.Glu301=)
c.855A>G (p.Glu285=)
c.738A>G (p.Glu246=)
c.720A>G (p.Glu240=)
3g.69951837A>TCA353561562MITFc.840A>T (p.Glu280Asp)
c.837A>T (p.Glu279Asp)
n.1062A>T
c.813A>T (p.Glu271Asp)
c.906A>T (p.Glu302Asp)
c.585A>T (p.Glu195Asp)
c.885A>T (p.Glu295Asp)
c.888A>T (p.Glu296Asp)
c.567A>T (p.Glu189Asp)
c.858A>T (p.Glu286Asp)
c.732A>T (p.Glu244Asp)
c.*232A>T (n.*232A>T)
c.399A>T (p.Glu133Asp)
c.750A>T (p.Glu250Asp)
c.903A>T (p.Glu301Asp)
c.855A>T (p.Glu285Asp)
c.738A>T (p.Glu246Asp)
c.720A>T (p.Glu240Asp)
3g.69951838G>ACA353561565MITFc.841G>A (p.Ala281Thr)
c.838G>A (p.Ala280Thr)
n.1063G>A
c.814G>A (p.Ala272Thr)
c.907G>A (p.Ala303Thr)
c.586G>A (p.Ala196Thr)
c.886G>A (p.Ala296Thr)
c.889G>A (p.Ala297Thr)
c.568G>A (p.Ala190Thr)
c.859G>A (p.Ala287Thr)
c.733G>A (p.Ala245Thr)
c.*233G>A (n.*233G>A)
c.400G>A (p.Ala134Thr)
c.751G>A (p.Ala251Thr)
c.904G>A (p.Ala302Thr)
c.856G>A (p.Ala286Thr)
c.739G>A (p.Ala247Thr)
c.721G>A (p.Ala241Thr)
3g.69951838G>CCA353561564MITFc.841G>C (p.Ala281Pro)
c.838G>C (p.Ala280Pro)
n.1063G>C
c.814G>C (p.Ala272Pro)
c.907G>C (p.Ala303Pro)
c.586G>C (p.Ala196Pro)
c.886G>C (p.Ala296Pro)
c.889G>C (p.Ala297Pro)
c.568G>C (p.Ala190Pro)
c.859G>C (p.Ala287Pro)
c.733G>C (p.Ala245Pro)
c.*233G>C (n.*233G>C)
c.400G>C (p.Ala134Pro)
c.751G>C (p.Ala251Pro)
c.904G>C (p.Ala302Pro)
c.856G>C (p.Ala286Pro)
c.739G>C (p.Ala247Pro)
c.721G>C (p.Ala241Pro)
3g.69951838G>TCA353561563MITFc.841G>T (p.Ala281Ser)
c.838G>T (p.Ala280Ser)
n.1063G>T
c.814G>T (p.Ala272Ser)
c.907G>T (p.Ala303Ser)
c.586G>T (p.Ala196Ser)
c.886G>T (p.Ala296Ser)
c.889G>T (p.Ala297Ser)
c.568G>T (p.Ala190Ser)
c.859G>T (p.Ala287Ser)
c.733G>T (p.Ala245Ser)
c.*233G>T (n.*233G>T)
c.400G>T (p.Ala134Ser)
c.751G>T (p.Ala251Ser)
c.904G>T (p.Ala302Ser)
c.856G>T (p.Ala286Ser)
c.739G>T (p.Ala247Ser)
c.721G>T (p.Ala241Ser)
3g.69951839C>ACA353561566MITFc.842C>A (p.Ala281Glu)
c.839C>A (p.Ala280Glu)
n.1064C>A
c.815C>A (p.Ala272Glu)
c.908C>A (p.Ala303Glu)
c.587C>A (p.Ala196Glu)
c.887C>A (p.Ala296Glu)
c.890C>A (p.Ala297Glu)
c.569C>A (p.Ala190Glu)
c.860C>A (p.Ala287Glu)
c.734C>A (p.Ala245Glu)
c.*234C>A (n.*234C>A)
c.401C>A (p.Ala134Glu)
c.752C>A (p.Ala251Glu)
c.905C>A (p.Ala302Glu)
c.857C>A (p.Ala286Glu)
c.740C>A (p.Ala247Glu)
c.722C>A (p.Ala241Glu)
3g.69951839C>GCA353561567MITFc.842C>G (p.Ala281Gly)
c.839C>G (p.Ala280Gly)
n.1064C>G
c.815C>G (p.Ala272Gly)
c.908C>G (p.Ala303Gly)
c.587C>G (p.Ala196Gly)
c.887C>G (p.Ala296Gly)
c.890C>G (p.Ala297Gly)
c.569C>G (p.Ala190Gly)
c.860C>G (p.Ala287Gly)
c.734C>G (p.Ala245Gly)
c.*234C>G (n.*234C>G)
c.401C>G (p.Ala134Gly)
c.752C>G (p.Ala251Gly)
c.905C>G (p.Ala302Gly)
c.857C>G (p.Ala286Gly)
c.740C>G (p.Ala247Gly)
c.722C>G (p.Ala241Gly)
3g.69951839C>TCA353561568MITFc.842C>T (p.Ala281Val)
c.839C>T (p.Ala280Val)
n.1064C>T
c.815C>T (p.Ala272Val)
c.908C>T (p.Ala303Val)
c.587C>T (p.Ala196Val)
c.887C>T (p.Ala296Val)
c.890C>T (p.Ala297Val)
c.569C>T (p.Ala190Val)
c.860C>T (p.Ala287Val)
c.734C>T (p.Ala245Val)
c.*234C>T (n.*234C>T)
c.401C>T (p.Ala134Val)
c.752C>T (p.Ala251Val)
c.905C>T (p.Ala302Val)
c.857C>T (p.Ala286Val)
c.740C>T (p.Ala247Val)
c.722C>T (p.Ala241Val)
3g.69951840A=CA1373443521MITFc.843A= (p.Ala281=)
c.840A= (p.Ala280=)
n.1065A=
c.816A= (p.Ala272=)
c.909A= (p.Ala303=)
c.588A= (p.Ala196=)
c.888A= (p.Ala296=)
c.891A= (p.Ala297=)
c.570A= (p.Ala190=)
c.861A= (p.Ala287=)
c.735A= (p.Ala245=)
c.*235A= (n.*235A=)
c.402A= (p.Ala134=)
c.753A= (p.Ala251=)
c.906A= (p.Ala302=)
c.858A= (p.Ala286=)
c.741A= (p.Ala247=)
c.723A= (p.Ala241=)
3g.69951840A>CCA434306270MITFc.843A>C (p.Ala281=)
c.840A>C (p.Ala280=)
n.1065A>C
c.816A>C (p.Ala272=)
c.909A>C (p.Ala303=)
c.588A>C (p.Ala196=)
c.888A>C (p.Ala296=)
c.891A>C (p.Ala297=)
c.570A>C (p.Ala190=)
c.861A>C (p.Ala287=)
c.735A>C (p.Ala245=)
c.*235A>C (n.*235A>C)
c.402A>C (p.Ala134=)
c.753A>C (p.Ala251=)
c.906A>C (p.Ala302=)
c.858A>C (p.Ala286=)
c.741A>C (p.Ala247=)
c.723A>C (p.Ala241=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69951840A>GCA434306271MITFc.843A>G (p.Ala281=)
c.840A>G (p.Ala280=)
n.1065A>G
c.816A>G (p.Ala272=)
c.909A>G (p.Ala303=)
c.588A>G (p.Ala196=)
c.888A>G (p.Ala296=)
c.891A>G (p.Ala297=)
c.570A>G (p.Ala190=)
c.861A>G (p.Ala287=)
c.735A>G (p.Ala245=)
c.*235A>G (n.*235A>G)
c.402A>G (p.Ala134=)
c.753A>G (p.Ala251=)
c.906A>G (p.Ala302=)
c.858A>G (p.Ala286=)
c.741A>G (p.Ala247=)
c.723A>G (p.Ala241=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69951840A>TCA434306272MITFc.843A>T (p.Ala281=)
c.840A>T (p.Ala280=)
n.1065A>T
c.816A>T (p.Ala272=)
c.909A>T (p.Ala303=)
c.588A>T (p.Ala196=)
c.888A>T (p.Ala296=)
c.891A>T (p.Ala297=)
c.570A>T (p.Ala190=)
c.861A>T (p.Ala287=)
c.735A>T (p.Ala245=)
c.*235A>T (n.*235A>T)
c.402A>T (p.Ala134=)
c.753A>T (p.Ala251=)
c.906A>T (p.Ala302=)
c.858A>T (p.Ala286=)
c.741A>T (p.Ala247=)
c.723A>T (p.Ala241=)
3g.69951841A>CCA434306273MITFc.844A>C (p.Arg282=)
c.841A>C (p.Arg281=)
n.1066A>C
c.817A>C (p.Arg273=)
c.910A>C (p.Arg304=)
c.589A>C (p.Arg197=)
c.889A>C (p.Arg297=)
c.892A>C (p.Arg298=)
c.571A>C (p.Arg191=)
c.862A>C (p.Arg288=)
c.736A>C (p.Arg246=)
c.*236A>C (n.*236A>C)
c.403A>C (p.Arg135=)
c.754A>C (p.Arg252=)
c.907A>C (p.Arg303=)
c.859A>C (p.Arg287=)
c.742A>C (p.Arg248=)
c.724A>C (p.Arg242=)
3g.69951841A>GCA353561569MITFc.844A>G (p.Arg282Gly)
c.841A>G (p.Arg281Gly)
n.1066A>G
c.817A>G (p.Arg273Gly)
c.910A>G (p.Arg304Gly)
c.589A>G (p.Arg197Gly)
c.889A>G (p.Arg297Gly)
c.892A>G (p.Arg298Gly)
c.571A>G (p.Arg191Gly)
c.862A>G (p.Arg288Gly)
c.736A>G (p.Arg246Gly)
c.*236A>G (n.*236A>G)
c.403A>G (p.Arg135Gly)
c.754A>G (p.Arg252Gly)
c.907A>G (p.Arg303Gly)
c.859A>G (p.Arg287Gly)
c.742A>G (p.Arg248Gly)
c.724A>G (p.Arg242Gly)
3g.69951841A>TCA353561570MITFc.844A>T (p.Arg282Ter)
c.841A>T (p.Arg281Ter)
n.1066A>T
c.817A>T (p.Arg273Ter)
c.910A>T (p.Arg304Ter)
c.589A>T (p.Arg197Ter)
c.889A>T (p.Arg297Ter)
c.892A>T (p.Arg298Ter)
c.571A>T (p.Arg191Ter)
c.862A>T (p.Arg288Ter)
c.736A>T (p.Arg246Ter)
c.*236A>T (n.*236A>T)
c.403A>T (p.Arg135Ter)
c.754A>T (p.Arg252Ter)
c.907A>T (p.Arg303Ter)
c.859A>T (p.Arg287Ter)
c.742A>T (p.Arg248Ter)
c.724A>T (p.Arg242Ter)
3g.69951842G>ACA353561571MITFc.845G>A (p.Arg282Lys)
c.842G>A (p.Arg281Lys)
n.1067G>A
c.818G>A (p.Arg273Lys)
c.911G>A (p.Arg304Lys)
c.590G>A (p.Arg197Lys)
c.890G>A (p.Arg297Lys)
c.893G>A (p.Arg298Lys)
c.572G>A (p.Arg191Lys)
c.863G>A (p.Arg288Lys)
c.737G>A (p.Arg246Lys)
c.*237G>A (n.*237G>A)
c.404G>A (p.Arg135Lys)
c.755G>A (p.Arg252Lys)
c.908G>A (p.Arg303Lys)
c.860G>A (p.Arg287Lys)
c.743G>A (p.Arg248Lys)
c.725G>A (p.Arg242Lys)
3g.69951842G>CCA353561572MITFc.845G>C (p.Arg282Thr)
c.842G>C (p.Arg281Thr)
n.1067G>C
c.818G>C (p.Arg273Thr)
c.911G>C (p.Arg304Thr)
c.590G>C (p.Arg197Thr)
c.890G>C (p.Arg297Thr)
c.893G>C (p.Arg298Thr)
c.572G>C (p.Arg191Thr)
c.863G>C (p.Arg288Thr)
c.737G>C (p.Arg246Thr)
c.*237G>C (n.*237G>C)
c.404G>C (p.Arg135Thr)
c.755G>C (p.Arg252Thr)
c.908G>C (p.Arg303Thr)
c.860G>C (p.Arg287Thr)
c.743G>C (p.Arg248Thr)
c.725G>C (p.Arg242Thr)
 gnomAD v4
3g.69951842G>TCA353561573MITFc.845G>T (p.Arg282Ile)
c.842G>T (p.Arg281Ile)
n.1067G>T
c.818G>T (p.Arg273Ile)
c.911G>T (p.Arg304Ile)
c.590G>T (p.Arg197Ile)
c.890G>T (p.Arg297Ile)
c.893G>T (p.Arg298Ile)
c.572G>T (p.Arg191Ile)
c.863G>T (p.Arg288Ile)
c.737G>T (p.Arg246Ile)
c.*237G>T (n.*237G>T)
c.404G>T (p.Arg135Ile)
c.755G>T (p.Arg252Ile)
c.908G>T (p.Arg303Ile)
c.860G>T (p.Arg287Ile)
c.743G>T (p.Arg248Ile)
c.725G>T (p.Arg242Ile)
3g.69951843A>CCA353561574MITFc.846A>C (p.Arg282Ser)
c.843A>C (p.Arg281Ser)
n.1068A>C
c.819A>C (p.Arg273Ser)
c.912A>C (p.Arg304Ser)
c.591A>C (p.Arg197Ser)
c.891A>C (p.Arg297Ser)
c.894A>C (p.Arg298Ser)
c.573A>C (p.Arg191Ser)
c.864A>C (p.Arg288Ser)
c.738A>C (p.Arg246Ser)
c.*238A>C (n.*238A>C)
c.405A>C (p.Arg135Ser)
c.756A>C (p.Arg252Ser)
c.909A>C (p.Arg303Ser)
c.861A>C (p.Arg287Ser)
c.744A>C (p.Arg248Ser)
c.726A>C (p.Arg242Ser)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
3g.69951843A>GCA434306274MITFc.846A>G (p.Arg282=)
c.843A>G (p.Arg281=)
n.1068A>G
c.819A>G (p.Arg273=)
c.912A>G (p.Arg304=)
c.591A>G (p.Arg197=)
c.891A>G (p.Arg297=)
c.894A>G (p.Arg298=)
c.573A>G (p.Arg191=)
c.864A>G (p.Arg288=)
c.738A>G (p.Arg246=)
c.*238A>G (n.*238A>G)
c.405A>G (p.Arg135=)
c.756A>G (p.Arg252=)
c.909A>G (p.Arg303=)
c.861A>G (p.Arg287=)
c.744A>G (p.Arg248=)
c.726A>G (p.Arg242=)
3g.69951843A>TCA353561575MITFc.846A>T (p.Arg282Ser)
c.843A>T (p.Arg281Ser)
n.1068A>T
c.819A>T (p.Arg273Ser)
c.912A>T (p.Arg304Ser)
c.591A>T (p.Arg197Ser)
c.891A>T (p.Arg297Ser)
c.894A>T (p.Arg298Ser)
c.573A>T (p.Arg191Ser)
c.864A>T (p.Arg288Ser)
c.738A>T (p.Arg246Ser)
c.*238A>T (n.*238A>T)
c.405A>T (p.Arg135Ser)
c.756A>T (p.Arg252Ser)
c.909A>T (p.Arg303Ser)
c.861A>T (p.Arg287Ser)
c.744A>T (p.Arg248Ser)
c.726A>T (p.Arg242Ser)
3g.69951844G>ACA353561576MITFc.847G>A (p.Ala283Thr)
c.844G>A (p.Ala282Thr)
n.1069G>A
c.820G>A (p.Ala274Thr)
c.913G>A (p.Ala305Thr)
c.592G>A (p.Ala198Thr)
c.892G>A (p.Ala298Thr)
c.895G>A (p.Ala299Thr)
c.574G>A (p.Ala192Thr)
c.865G>A (p.Ala289Thr)
c.739G>A (p.Ala247Thr)
c.*239G>A (n.*239G>A)
c.406G>A (p.Ala136Thr)
c.757G>A (p.Ala253Thr)
c.910G>A (p.Ala304Thr)
c.862G>A (p.Ala288Thr)
c.745G>A (p.Ala249Thr)
c.727G>A (p.Ala243Thr)
 dbSNP gnomAD v2 gnomAD v4
3g.69951844G>CCA353561577MITFc.847G>C (p.Ala283Pro)
c.844G>C (p.Ala282Pro)
n.1069G>C
c.820G>C (p.Ala274Pro)
c.913G>C (p.Ala305Pro)
c.592G>C (p.Ala198Pro)
c.892G>C (p.Ala298Pro)
c.895G>C (p.Ala299Pro)
c.574G>C (p.Ala192Pro)
c.865G>C (p.Ala289Pro)
c.739G>C (p.Ala247Pro)
c.*239G>C (n.*239G>C)
c.406G>C (p.Ala136Pro)
c.757G>C (p.Ala253Pro)
c.910G>C (p.Ala304Pro)
c.862G>C (p.Ala288Pro)
c.745G>C (p.Ala249Pro)
c.727G>C (p.Ala243Pro)
3g.69951844G=CA1373443524MITFc.847G= (p.Ala283=)
c.844G= (p.Ala282=)
n.1069G=
c.820G= (p.Ala274=)
c.913G= (p.Ala305=)
c.592G= (p.Ala198=)
c.892G= (p.Ala298=)
c.895G= (p.Ala299=)
c.574G= (p.Ala192=)
c.865G= (p.Ala289=)
c.739G= (p.Ala247=)
c.*239G= (n.*239G=)
c.406G= (p.Ala136=)
c.757G= (p.Ala253=)
c.910G= (p.Ala304=)
c.862G= (p.Ala288=)
c.745G= (p.Ala249=)
c.727G= (p.Ala243=)
3g.69951844G>TCA2490509MITFc.847G>T (p.Ala283Ser)
c.844G>T (p.Ala282Ser)
n.1069G>T
c.820G>T (p.Ala274Ser)
c.913G>T (p.Ala305Ser)
c.592G>T (p.Ala198Ser)
c.892G>T (p.Ala298Ser)
c.895G>T (p.Ala299Ser)
c.574G>T (p.Ala192Ser)
c.865G>T (p.Ala289Ser)
c.739G>T (p.Ala247Ser)
c.*239G>T (n.*239G>T)
c.406G>T (p.Ala136Ser)
c.757G>T (p.Ala253Ser)
c.910G>T (p.Ala304Ser)
c.862G>T (p.Ala288Ser)
c.745G>T (p.Ala249Ser)
c.727G>T (p.Ala243Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.69951845C>ACA353561580MITFc.848C>A (p.Ala283Glu)
c.845C>A (p.Ala282Glu)
n.1070C>A
c.821C>A (p.Ala274Glu)
c.914C>A (p.Ala305Glu)
c.593C>A (p.Ala198Glu)
c.893C>A (p.Ala298Glu)
c.896C>A (p.Ala299Glu)
c.575C>A (p.Ala192Glu)
c.866C>A (p.Ala289Glu)
c.740C>A (p.Ala247Glu)
c.*240C>A (n.*240C>A)
c.407C>A (p.Ala136Glu)
c.758C>A (p.Ala253Glu)
c.911C>A (p.Ala304Glu)
c.863C>A (p.Ala288Glu)
c.746C>A (p.Ala249Glu)
c.728C>A (p.Ala243Glu)
3g.69951845C=CA1373443529MITFc.848C= (p.Ala283=)
c.845C= (p.Ala282=)
n.1070C=
c.821C= (p.Ala274=)
c.914C= (p.Ala305=)
c.593C= (p.Ala198=)
c.893C= (p.Ala298=)
c.896C= (p.Ala299=)
c.575C= (p.Ala192=)
c.866C= (p.Ala289=)
c.740C= (p.Ala247=)
c.*240C= (n.*240C=)
c.407C= (p.Ala136=)
c.758C= (p.Ala253=)
c.911C= (p.Ala304=)
c.863C= (p.Ala288=)
c.746C= (p.Ala249=)
c.728C= (p.Ala243=)
3g.69951845C>GCA353561578MITFc.848C>G (p.Ala283Gly)
c.845C>G (p.Ala282Gly)
n.1070C>G
c.821C>G (p.Ala274Gly)
c.914C>G (p.Ala305Gly)
c.593C>G (p.Ala198Gly)
c.893C>G (p.Ala298Gly)
c.896C>G (p.Ala299Gly)
c.575C>G (p.Ala192Gly)
c.866C>G (p.Ala289Gly)
c.740C>G (p.Ala247Gly)
c.*240C>G (n.*240C>G)
c.407C>G (p.Ala136Gly)
c.758C>G (p.Ala253Gly)
c.911C>G (p.Ala304Gly)
c.863C>G (p.Ala288Gly)
c.746C>G (p.Ala249Gly)
c.728C>G (p.Ala243Gly)
3g.69951845C>TCA353561579MITFc.848C>T (p.Ala283Val)
c.845C>T (p.Ala282Val)
n.1070C>T
c.821C>T (p.Ala274Val)
c.914C>T (p.Ala305Val)
c.593C>T (p.Ala198Val)
c.893C>T (p.Ala298Val)
c.896C>T (p.Ala299Val)
c.575C>T (p.Ala192Val)
c.866C>T (p.Ala289Val)
c.740C>T (p.Ala247Val)
c.*240C>T (n.*240C>T)
c.407C>T (p.Ala136Val)
c.758C>T (p.Ala253Val)
c.911C>T (p.Ala304Val)
c.863C>T (p.Ala288Val)
c.746C>T (p.Ala249Val)
c.728C>T (p.Ala243Val)
 gnomAD v4
3g.69951846A>CCA434306275MITFc.849A>C (p.Ala283=)
c.846A>C (p.Ala282=)
n.1071A>C
c.822A>C (p.Ala274=)
c.915A>C (p.Ala305=)
c.594A>C (p.Ala198=)
c.894A>C (p.Ala298=)
c.897A>C (p.Ala299=)
c.576A>C (p.Ala192=)
c.867A>C (p.Ala289=)
c.741A>C (p.Ala247=)
c.*241A>C (n.*241A>C)
c.408A>C (p.Ala136=)
c.759A>C (p.Ala253=)
c.912A>C (p.Ala304=)
c.864A>C (p.Ala288=)
c.747A>C (p.Ala249=)
c.729A>C (p.Ala243=)
3g.69951846A>GCA434306276MITFc.849A>G (p.Ala283=)
c.846A>G (p.Ala282=)
n.1071A>G
c.822A>G (p.Ala274=)
c.915A>G (p.Ala305=)
c.594A>G (p.Ala198=)
c.894A>G (p.Ala298=)
c.897A>G (p.Ala299=)
c.576A>G (p.Ala192=)
c.867A>G (p.Ala289=)
c.741A>G (p.Ala247=)
c.*241A>G (n.*241A>G)
c.408A>G (p.Ala136=)
c.759A>G (p.Ala253=)
c.912A>G (p.Ala304=)
c.864A>G (p.Ala288=)
c.747A>G (p.Ala249=)
c.729A>G (p.Ala243=)
3g.69951846A>TCA434306277MITFc.849A>T (p.Ala283=)
c.846A>T (p.Ala282=)
n.1071A>T
c.822A>T (p.Ala274=)
c.915A>T (p.Ala305=)
c.594A>T (p.Ala198=)
c.894A>T (p.Ala298=)
c.897A>T (p.Ala299=)
c.576A>T (p.Ala192=)
c.867A>T (p.Ala289=)
c.741A>T (p.Ala247=)
c.*241A>T (n.*241A>T)
c.408A>T (p.Ala136=)
c.759A>T (p.Ala253=)
c.912A>T (p.Ala304=)
c.864A>T (p.Ala288=)
c.747A>T (p.Ala249=)
c.729A>T (p.Ala243=)
3g.69951846dupCA1373443532MITFc.849dup (p.Leu284ThrfsTer15)
c.846dup (p.Leu283ThrfsTer15)
n.1071dup
c.822dup (p.Leu275ThrfsTer15)
c.915dup (p.Leu306ThrfsTer15)
c.594dup (p.Leu199ThrfsTer15)
c.894dup (p.Leu299ThrfsTer15)
c.897dup (p.Leu300ThrfsTer15)
c.576dup (p.Leu193ThrfsTer15)
c.867dup (p.Leu290ThrfsTer15)
c.741dup (p.Leu248ThrfsTer15)
c.*241dup (n.*241dup)
c.408dup (p.Leu137ThrfsTer15)
c.759dup (p.Leu254ThrfsTer15)
c.912dup (p.Leu305ThrfsTer15)
c.864dup (p.Leu289ThrfsTer15)
c.747dup (p.Leu250ThrfsTer15)
c.729dup (p.Leu244ThrfsTer15)
 ClinVar dbSNP
3g.69951847C>ACA353561581MITFc.850C>A (p.Leu284Met)
c.847C>A (p.Leu283Met)
n.1072C>A
c.823C>A (p.Leu275Met)
c.916C>A (p.Leu306Met)
c.595C>A (p.Leu199Met)
c.895C>A (p.Leu299Met)
c.898C>A (p.Leu300Met)
c.577C>A (p.Leu193Met)
c.868C>A (p.Leu290Met)
c.742C>A (p.Leu248Met)
c.*242C>A (n.*242C>A)
c.409C>A (p.Leu137Met)
c.760C>A (p.Leu254Met)
c.913C>A (p.Leu305Met)
c.865C>A (p.Leu289Met)
c.748C>A (p.Leu250Met)
c.730C>A (p.Leu244Met)
3g.69951847C=CA1373443534MITFc.850C= (p.Leu284=)
c.847C= (p.Leu283=)
n.1072C=
c.823C= (p.Leu275=)
c.916C= (p.Leu306=)
c.595C= (p.Leu199=)
c.895C= (p.Leu299=)
c.898C= (p.Leu300=)
c.577C= (p.Leu193=)
c.868C= (p.Leu290=)
c.742C= (p.Leu248=)
c.*242C= (n.*242C=)
c.409C= (p.Leu137=)
c.760C= (p.Leu254=)
c.913C= (p.Leu305=)
c.865C= (p.Leu289=)
c.748C= (p.Leu250=)
c.730C= (p.Leu244=)
3g.69951847C>GCA353561582MITFc.850C>G (p.Leu284Val)
c.847C>G (p.Leu283Val)
n.1072C>G
c.823C>G (p.Leu275Val)
c.916C>G (p.Leu306Val)
c.595C>G (p.Leu199Val)
c.895C>G (p.Leu299Val)
c.898C>G (p.Leu300Val)
c.577C>G (p.Leu193Val)
c.868C>G (p.Leu290Val)
c.742C>G (p.Leu248Val)
c.*242C>G (n.*242C>G)
c.409C>G (p.Leu137Val)
c.760C>G (p.Leu254Val)
c.913C>G (p.Leu305Val)
c.865C>G (p.Leu289Val)
c.748C>G (p.Leu250Val)
c.730C>G (p.Leu244Val)
3g.69951847C>TCA434306278MITFc.850C>T (p.Leu284=)
c.847C>T (p.Leu283=)
n.1072C>T
c.823C>T (p.Leu275=)
c.916C>T (p.Leu306=)
c.595C>T (p.Leu199=)
c.895C>T (p.Leu299=)
c.898C>T (p.Leu300=)
c.577C>T (p.Leu193=)
c.868C>T (p.Leu290=)
c.742C>T (p.Leu248=)
c.*242C>T (n.*242C>T)
c.409C>T (p.Leu137=)
c.760C>T (p.Leu254=)
c.913C>T (p.Leu305=)
c.865C>T (p.Leu289=)
c.748C>T (p.Leu250=)
c.730C>T (p.Leu244=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69951848T>ACA353561583MITFc.851T>A (p.Leu284Gln)
c.848T>A (p.Leu283Gln)
n.1073T>A
c.824T>A (p.Leu275Gln)
c.917T>A (p.Leu306Gln)
c.596T>A (p.Leu199Gln)
c.896T>A (p.Leu299Gln)
c.899T>A (p.Leu300Gln)
c.578T>A (p.Leu193Gln)
c.869T>A (p.Leu290Gln)
c.743T>A (p.Leu248Gln)
c.*243T>A (n.*243T>A)
c.410T>A (p.Leu137Gln)
c.761T>A (p.Leu254Gln)
c.914T>A (p.Leu305Gln)
c.866T>A (p.Leu289Gln)
c.749T>A (p.Leu250Gln)
c.731T>A (p.Leu244Gln)
3g.69951848T>CCA353561584MITFc.851T>C (p.Leu284Pro)
c.848T>C (p.Leu283Pro)
n.1073T>C
c.824T>C (p.Leu275Pro)
c.917T>C (p.Leu306Pro)
c.596T>C (p.Leu199Pro)
c.896T>C (p.Leu299Pro)
c.899T>C (p.Leu300Pro)
c.578T>C (p.Leu193Pro)
c.869T>C (p.Leu290Pro)
c.743T>C (p.Leu248Pro)
c.*243T>C (n.*243T>C)
c.410T>C (p.Leu137Pro)
c.761T>C (p.Leu254Pro)
c.914T>C (p.Leu305Pro)
c.866T>C (p.Leu289Pro)
c.749T>C (p.Leu250Pro)
c.731T>C (p.Leu244Pro)
3g.69951848T>GCA353561585MITFc.851T>G (p.Leu284Arg)
c.848T>G (p.Leu283Arg)
n.1073T>G
c.824T>G (p.Leu275Arg)
c.917T>G (p.Leu306Arg)
c.596T>G (p.Leu199Arg)
c.896T>G (p.Leu299Arg)
c.899T>G (p.Leu300Arg)
c.578T>G (p.Leu193Arg)
c.869T>G (p.Leu290Arg)
c.743T>G (p.Leu248Arg)
c.*243T>G (n.*243T>G)
c.410T>G (p.Leu137Arg)
c.761T>G (p.Leu254Arg)
c.914T>G (p.Leu305Arg)
c.866T>G (p.Leu289Arg)
c.749T>G (p.Leu250Arg)
c.731T>G (p.Leu244Arg)
3g.69951849G>ACA434306279MITFc.852G>A (p.Leu284=)
c.849G>A (p.Leu283=)
n.1074G>A
c.825G>A (p.Leu275=)
c.918G>A (p.Leu306=)
c.597G>A (p.Leu199=)
c.897G>A (p.Leu299=)
c.900G>A (p.Leu300=)
c.579G>A (p.Leu193=)
c.870G>A (p.Leu290=)
c.744G>A (p.Leu248=)
c.*244G>A (n.*244G>A)
c.411G>A (p.Leu137=)
c.762G>A (p.Leu254=)
c.915G>A (p.Leu305=)
c.867G>A (p.Leu289=)
c.750G>A (p.Leu250=)
c.732G>A (p.Leu244=)
 ClinVar
3g.69951849G>CCA434306280MITFc.852G>C (p.Leu284=)
c.849G>C (p.Leu283=)
n.1074G>C
c.825G>C (p.Leu275=)
c.918G>C (p.Leu306=)
c.597G>C (p.Leu199=)
c.897G>C (p.Leu299=)
c.900G>C (p.Leu300=)
c.579G>C (p.Leu193=)
c.870G>C (p.Leu290=)
c.744G>C (p.Leu248=)
c.*244G>C (n.*244G>C)
c.411G>C (p.Leu137=)
c.762G>C (p.Leu254=)
c.915G>C (p.Leu305=)
c.867G>C (p.Leu289=)
c.750G>C (p.Leu250=)
c.732G>C (p.Leu244=)
3g.69951849G>TCA434306281MITFc.852G>T (p.Leu284=)
c.849G>T (p.Leu283=)
n.1074G>T
c.825G>T (p.Leu275=)
c.918G>T (p.Leu306=)
c.597G>T (p.Leu199=)
c.897G>T (p.Leu299=)
c.900G>T (p.Leu300=)
c.579G>T (p.Leu193=)
c.870G>T (p.Leu290=)
c.744G>T (p.Leu248=)
c.*244G>T (n.*244G>T)
c.411G>T (p.Leu137=)
c.762G>T (p.Leu254=)
c.915G>T (p.Leu305=)
c.867G>T (p.Leu289=)
c.750G>T (p.Leu250=)
c.732G>T (p.Leu244=)
 COSMIC COSMIC
3g.69951850G>ACA353561586MITFc.853G>A (p.Ala285Thr)
c.850G>A (p.Ala284Thr)
n.1075G>A
c.826G>A (p.Ala276Thr)
c.919G>A (p.Ala307Thr)
c.598G>A (p.Ala200Thr)
c.898G>A (p.Ala300Thr)
c.901G>A (p.Ala301Thr)
c.580G>A (p.Ala194Thr)
c.871G>A (p.Ala291Thr)
c.745G>A (p.Ala249Thr)
c.*245G>A (n.*245G>A)
c.412G>A (p.Ala138Thr)
c.763G>A (p.Ala255Thr)
c.916G>A (p.Ala306Thr)
c.868G>A (p.Ala290Thr)
c.751G>A (p.Ala251Thr)
c.733G>A (p.Ala245Thr)
 dbSNP
3g.69951850G>CCA353561587MITFc.853G>C (p.Ala285Pro)
c.850G>C (p.Ala284Pro)
n.1075G>C
c.826G>C (p.Ala276Pro)
c.919G>C (p.Ala307Pro)
c.598G>C (p.Ala200Pro)
c.898G>C (p.Ala300Pro)
c.901G>C (p.Ala301Pro)
c.580G>C (p.Ala194Pro)
c.871G>C (p.Ala291Pro)
c.745G>C (p.Ala249Pro)
c.*245G>C (n.*245G>C)
c.412G>C (p.Ala138Pro)
c.763G>C (p.Ala255Pro)
c.916G>C (p.Ala306Pro)
c.868G>C (p.Ala290Pro)
c.751G>C (p.Ala251Pro)
c.733G>C (p.Ala245Pro)
3g.69951850G=CA1373443536MITFc.853G= (p.Ala285=)
c.850G= (p.Ala284=)
n.1075G=
c.826G= (p.Ala276=)
c.919G= (p.Ala307=)
c.598G= (p.Ala200=)
c.898G= (p.Ala300=)
c.901G= (p.Ala301=)
c.580G= (p.Ala194=)
c.871G= (p.Ala291=)
c.745G= (p.Ala249=)
c.*245G= (n.*245G=)
c.412G= (p.Ala138=)
c.763G= (p.Ala255=)
c.916G= (p.Ala306=)
c.868G= (p.Ala290=)
c.751G= (p.Ala251=)
c.733G= (p.Ala245=)
3g.69951850G>TCA353561588MITFc.853G>T (p.Ala285Ser)
c.850G>T (p.Ala284Ser)
n.1075G>T
c.826G>T (p.Ala276Ser)
c.919G>T (p.Ala307Ser)
c.598G>T (p.Ala200Ser)
c.898G>T (p.Ala300Ser)
c.901G>T (p.Ala301Ser)
c.580G>T (p.Ala194Ser)
c.871G>T (p.Ala291Ser)
c.745G>T (p.Ala249Ser)
c.*245G>T (n.*245G>T)
c.412G>T (p.Ala138Ser)
c.763G>T (p.Ala255Ser)
c.916G>T (p.Ala306Ser)
c.868G>T (p.Ala290Ser)
c.751G>T (p.Ala251Ser)
c.733G>T (p.Ala245Ser)
 dbSNP
3g.69951851C>ACA353561589MITFc.854C>A (p.Ala285Asp)
c.851C>A (p.Ala284Asp)
n.1076C>A
c.827C>A (p.Ala276Asp)
c.920C>A (p.Ala307Asp)
c.599C>A (p.Ala200Asp)
c.899C>A (p.Ala300Asp)
c.902C>A (p.Ala301Asp)
c.581C>A (p.Ala194Asp)
c.872C>A (p.Ala291Asp)
c.746C>A (p.Ala249Asp)
c.*246C>A (n.*246C>A)
c.413C>A (p.Ala138Asp)
c.764C>A (p.Ala255Asp)
c.917C>A (p.Ala306Asp)
c.869C>A (p.Ala290Asp)
c.752C>A (p.Ala251Asp)
c.734C>A (p.Ala245Asp)
 dbSNP
3g.69951851C>GCA353561590MITFc.854C>G (p.Ala285Gly)
c.851C>G (p.Ala284Gly)
n.1076C>G
c.827C>G (p.Ala276Gly)
c.920C>G (p.Ala307Gly)
c.599C>G (p.Ala200Gly)
c.899C>G (p.Ala300Gly)
c.902C>G (p.Ala301Gly)
c.581C>G (p.Ala194Gly)
c.872C>G (p.Ala291Gly)
c.746C>G (p.Ala249Gly)
c.*246C>G (n.*246C>G)
c.413C>G (p.Ala138Gly)
c.764C>G (p.Ala255Gly)
c.917C>G (p.Ala306Gly)
c.869C>G (p.Ala290Gly)
c.752C>G (p.Ala251Gly)
c.734C>G (p.Ala245Gly)
3g.69951851C>TCA353561591MITFc.854C>T (p.Ala285Val)
c.851C>T (p.Ala284Val)
n.1076C>T
c.827C>T (p.Ala276Val)
c.920C>T (p.Ala307Val)
c.599C>T (p.Ala200Val)
c.899C>T (p.Ala300Val)
c.902C>T (p.Ala301Val)
c.581C>T (p.Ala194Val)
c.872C>T (p.Ala291Val)
c.746C>T (p.Ala249Val)
c.*246C>T (n.*246C>T)
c.413C>T (p.Ala138Val)
c.764C>T (p.Ala255Val)
c.917C>T (p.Ala306Val)
c.869C>T (p.Ala290Val)
c.752C>T (p.Ala251Val)
c.734C>T (p.Ala245Val)
 dbSNP
3g.69951852C>ACA434306282MITFc.855C>A (p.Ala285=)
c.852C>A (p.Ala284=)
n.1077C>A
c.828C>A (p.Ala276=)
c.921C>A (p.Ala307=)
c.600C>A (p.Ala200=)
c.900C>A (p.Ala300=)
c.903C>A (p.Ala301=)
c.582C>A (p.Ala194=)
c.873C>A (p.Ala291=)
c.747C>A (p.Ala249=)
c.*247C>A (n.*247C>A)
c.414C>A (p.Ala138=)
c.765C>A (p.Ala255=)
c.918C>A (p.Ala306=)
c.870C>A (p.Ala290=)
c.753C>A (p.Ala251=)
c.735C>A (p.Ala245=)
3g.69951852C=CA1373443540MITFc.855C= (p.Ala285=)
c.852C= (p.Ala284=)
n.1077C=
c.828C= (p.Ala276=)
c.921C= (p.Ala307=)
c.600C= (p.Ala200=)
c.900C= (p.Ala300=)
c.903C= (p.Ala301=)
c.582C= (p.Ala194=)
c.873C= (p.Ala291=)
c.747C= (p.Ala249=)
c.*247C= (n.*247C=)
c.414C= (p.Ala138=)
c.765C= (p.Ala255=)
c.918C= (p.Ala306=)
c.870C= (p.Ala290=)
c.753C= (p.Ala251=)
c.735C= (p.Ala245=)
3g.69951852C>GCA434306283MITFc.855C>G (p.Ala285=)
c.852C>G (p.Ala284=)
n.1077C>G
c.828C>G (p.Ala276=)
c.921C>G (p.Ala307=)
c.600C>G (p.Ala200=)
c.900C>G (p.Ala300=)
c.903C>G (p.Ala301=)
c.582C>G (p.Ala194=)
c.873C>G (p.Ala291=)
c.747C>G (p.Ala249=)
c.*247C>G (n.*247C>G)
c.414C>G (p.Ala138=)
c.765C>G (p.Ala255=)
c.918C>G (p.Ala306=)
c.870C>G (p.Ala290=)
c.753C>G (p.Ala251=)
c.735C>G (p.Ala245=)
3g.69951852C>TCA77002072MITFc.855C>T (p.Ala285=)
c.852C>T (p.Ala284=)
n.1077C>T
c.828C>T (p.Ala276=)
c.921C>T (p.Ala307=)
c.600C>T (p.Ala200=)
c.900C>T (p.Ala300=)
c.903C>T (p.Ala301=)
c.582C>T (p.Ala194=)
c.873C>T (p.Ala291=)
c.747C>T (p.Ala249=)
c.*247C>T (n.*247C>T)
c.414C>T (p.Ala138=)
c.765C>T (p.Ala255=)
c.918C>T (p.Ala306=)
c.870C>T (p.Ala290=)
c.753C>T (p.Ala251=)
c.735C>T (p.Ala245=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69951853A>CCA353561594MITFc.856A>C (p.Lys286Gln)
c.853A>C (p.Lys285Gln)
n.1078A>C
c.829A>C (p.Lys277Gln)
c.922A>C (p.Lys308Gln)
c.601A>C (p.Lys201Gln)
c.901A>C (p.Lys301Gln)
c.904A>C (p.Lys302Gln)
c.583A>C (p.Lys195Gln)
c.874A>C (p.Lys292Gln)
c.748A>C (p.Lys250Gln)
c.*248A>C (n.*248A>C)
c.415A>C (p.Lys139Gln)
c.766A>C (p.Lys256Gln)
c.919A>C (p.Lys307Gln)
c.871A>C (p.Lys291Gln)
c.754A>C (p.Lys252Gln)
c.736A>C (p.Lys246Gln)
3g.69951853A>GCA353561593MITFc.856A>G (p.Lys286Glu)
c.853A>G (p.Lys285Glu)
n.1078A>G
c.829A>G (p.Lys277Glu)
c.922A>G (p.Lys308Glu)
c.601A>G (p.Lys201Glu)
c.901A>G (p.Lys301Glu)
c.904A>G (p.Lys302Glu)
c.583A>G (p.Lys195Glu)
c.874A>G (p.Lys292Glu)
c.748A>G (p.Lys250Glu)
c.*248A>G (n.*248A>G)
c.415A>G (p.Lys139Glu)
c.766A>G (p.Lys256Glu)
c.919A>G (p.Lys307Glu)
c.871A>G (p.Lys291Glu)
c.754A>G (p.Lys252Glu)
c.736A>G (p.Lys246Glu)
3g.69951853A>TCA353561592MITFc.856A>T (p.Lys286Ter)
c.853A>T (p.Lys285Ter)
n.1078A>T
c.829A>T (p.Lys277Ter)
c.922A>T (p.Lys308Ter)
c.601A>T (p.Lys201Ter)
c.901A>T (p.Lys301Ter)
c.904A>T (p.Lys302Ter)
c.583A>T (p.Lys195Ter)
c.874A>T (p.Lys292Ter)
c.748A>T (p.Lys250Ter)
c.*248A>T (n.*248A>T)
c.415A>T (p.Lys139Ter)
c.766A>T (p.Lys256Ter)
c.919A>T (p.Lys307Ter)
c.871A>T (p.Lys291Ter)
c.754A>T (p.Lys252Ter)
c.736A>T (p.Lys246Ter)
3g.69951854A>CCA353561595MITFc.857A>C (p.Lys286Thr)
c.854A>C (p.Lys285Thr)
n.1079A>C
c.830A>C (p.Lys277Thr)
c.923A>C (p.Lys308Thr)
c.602A>C (p.Lys201Thr)
c.902A>C (p.Lys301Thr)
c.905A>C (p.Lys302Thr)
c.584A>C (p.Lys195Thr)
c.875A>C (p.Lys292Thr)
c.749A>C (p.Lys250Thr)
c.*249A>C (n.*249A>C)
c.416A>C (p.Lys139Thr)
c.767A>C (p.Lys256Thr)
c.920A>C (p.Lys307Thr)
c.872A>C (p.Lys291Thr)
c.755A>C (p.Lys252Thr)
c.737A>C (p.Lys246Thr)
3g.69951854A>GCA353561596MITFc.857A>G (p.Lys286Arg)
c.854A>G (p.Lys285Arg)
n.1079A>G
c.830A>G (p.Lys277Arg)
c.923A>G (p.Lys308Arg)
c.602A>G (p.Lys201Arg)
c.902A>G (p.Lys301Arg)
c.905A>G (p.Lys302Arg)
c.584A>G (p.Lys195Arg)
c.875A>G (p.Lys292Arg)
c.749A>G (p.Lys250Arg)
c.*249A>G (n.*249A>G)
c.416A>G (p.Lys139Arg)
c.767A>G (p.Lys256Arg)
c.920A>G (p.Lys307Arg)
c.872A>G (p.Lys291Arg)
c.755A>G (p.Lys252Arg)
c.737A>G (p.Lys246Arg)
 gnomAD v4
3g.69951854A>TCA353561597MITFc.857A>T (p.Lys286Ile)
c.854A>T (p.Lys285Ile)
n.1079A>T
c.830A>T (p.Lys277Ile)
c.923A>T (p.Lys308Ile)
c.602A>T (p.Lys201Ile)
c.902A>T (p.Lys301Ile)
c.905A>T (p.Lys302Ile)
c.584A>T (p.Lys195Ile)
c.875A>T (p.Lys292Ile)
c.749A>T (p.Lys250Ile)
c.*249A>T (n.*249A>T)
c.416A>T (p.Lys139Ile)
c.767A>T (p.Lys256Ile)
c.920A>T (p.Lys307Ile)
c.872A>T (p.Lys291Ile)
c.755A>T (p.Lys252Ile)
c.737A>T (p.Lys246Ile)
3g.69951855A>CCA353561598MITFc.858A>C (p.Lys286Asn)
c.855A>C (p.Lys285Asn)
n.1080A>C
c.831A>C (p.Lys277Asn)
c.924A>C (p.Lys308Asn)
c.603A>C (p.Lys201Asn)
c.903A>C (p.Lys301Asn)
c.906A>C (p.Lys302Asn)
c.585A>C (p.Lys195Asn)
c.876A>C (p.Lys292Asn)
c.750A>C (p.Lys250Asn)
c.*250A>C (n.*250A>C)
c.417A>C (p.Lys139Asn)
c.768A>C (p.Lys256Asn)
c.921A>C (p.Lys307Asn)
c.873A>C (p.Lys291Asn)
c.756A>C (p.Lys252Asn)
c.738A>C (p.Lys246Asn)
3g.69951855A>GCA434306284MITFc.858A>G (p.Lys286=)
c.855A>G (p.Lys285=)
n.1080A>G
c.831A>G (p.Lys277=)
c.924A>G (p.Lys308=)
c.603A>G (p.Lys201=)
c.903A>G (p.Lys301=)
c.906A>G (p.Lys302=)
c.585A>G (p.Lys195=)
c.876A>G (p.Lys292=)
c.750A>G (p.Lys250=)
c.*250A>G (n.*250A>G)
c.417A>G (p.Lys139=)
c.768A>G (p.Lys256=)
c.921A>G (p.Lys307=)
c.873A>G (p.Lys291=)
c.756A>G (p.Lys252=)
c.738A>G (p.Lys246=)
 gnomAD v4
3g.69951855A>TCA353561599MITFc.858A>T (p.Lys286Asn)
c.855A>T (p.Lys285Asn)
n.1080A>T
c.831A>T (p.Lys277Asn)
c.924A>T (p.Lys308Asn)
c.603A>T (p.Lys201Asn)
c.903A>T (p.Lys301Asn)
c.906A>T (p.Lys302Asn)
c.585A>T (p.Lys195Asn)
c.876A>T (p.Lys292Asn)
c.750A>T (p.Lys250Asn)
c.*250A>T (n.*250A>T)
c.417A>T (p.Lys139Asn)
c.768A>T (p.Lys256Asn)
c.921A>T (p.Lys307Asn)
c.873A>T (p.Lys291Asn)
c.756A>T (p.Lys252Asn)
c.738A>T (p.Lys246Asn)
3g.69951856G>ACA353561600MITFc.859G>A (p.Glu287Lys)
c.856G>A (p.Glu286Lys)
n.1081G>A
c.832G>A (p.Glu278Lys)
c.925G>A (p.Glu309Lys)
c.604G>A (p.Glu202Lys)
c.904G>A (p.Glu302Lys)
c.907G>A (p.Glu303Lys)
c.586G>A (p.Glu196Lys)
c.877G>A (p.Glu293Lys)
c.751G>A (p.Glu251Lys)
c.*251G>A (n.*251G>A)
c.418G>A (p.Glu140Lys)
c.769G>A (p.Glu257Lys)
c.922G>A (p.Glu308Lys)
c.874G>A (p.Glu292Lys)
c.757G>A (p.Glu253Lys)
c.739G>A (p.Glu247Lys)
 ClinVar dbSNP
3g.69951856G>CCA353561601MITFc.859G>C (p.Glu287Gln)
c.856G>C (p.Glu286Gln)
n.1081G>C
c.832G>C (p.Glu278Gln)
c.925G>C (p.Glu309Gln)
c.604G>C (p.Glu202Gln)
c.904G>C (p.Glu302Gln)
c.907G>C (p.Glu303Gln)
c.586G>C (p.Glu196Gln)
c.877G>C (p.Glu293Gln)
c.751G>C (p.Glu251Gln)
c.*251G>C (n.*251G>C)
c.418G>C (p.Glu140Gln)
c.769G>C (p.Glu257Gln)
c.922G>C (p.Glu308Gln)
c.874G>C (p.Glu292Gln)
c.757G>C (p.Glu253Gln)
c.739G>C (p.Glu247Gln)
 dbSNP gnomAD v3 gnomAD v4
3g.69951856G=CA1373443547MITFc.859G= (p.Glu287=)
c.856G= (p.Glu286=)
n.1081G=
c.832G= (p.Glu278=)
c.925G= (p.Glu309=)
c.604G= (p.Glu202=)
c.904G= (p.Glu302=)
c.907G= (p.Glu303=)
c.586G= (p.Glu196=)
c.877G= (p.Glu293=)
c.751G= (p.Glu251=)
c.*251G= (n.*251G=)
c.418G= (p.Glu140=)
c.769G= (p.Glu257=)
c.922G= (p.Glu308=)
c.874G= (p.Glu292=)
c.757G= (p.Glu253=)
c.739G= (p.Glu247=)
3g.69951856G>TCA353561602MITFc.859G>T (p.Glu287Ter)
c.856G>T (p.Glu286Ter)
n.1081G>T
c.832G>T (p.Glu278Ter)
c.925G>T (p.Glu309Ter)
c.604G>T (p.Glu202Ter)
c.904G>T (p.Glu302Ter)
c.907G>T (p.Glu303Ter)
c.586G>T (p.Glu196Ter)
c.877G>T (p.Glu293Ter)
c.751G>T (p.Glu251Ter)
c.*251G>T (n.*251G>T)
c.418G>T (p.Glu140Ter)
c.769G>T (p.Glu257Ter)
c.922G>T (p.Glu308Ter)
c.874G>T (p.Glu292Ter)
c.757G>T (p.Glu253Ter)
c.739G>T (p.Glu247Ter)
3g.69951857A>CCA353561603MITFc.860A>C (p.Glu287Ala)
c.857A>C (p.Glu286Ala)
n.1082A>C
c.833A>C (p.Glu278Ala)
c.926A>C (p.Glu309Ala)
c.605A>C (p.Glu202Ala)
c.905A>C (p.Glu302Ala)
c.908A>C (p.Glu303Ala)
c.587A>C (p.Glu196Ala)
c.878A>C (p.Glu293Ala)
c.752A>C (p.Glu251Ala)
c.*252A>C (n.*252A>C)
c.419A>C (p.Glu140Ala)
c.770A>C (p.Glu257Ala)
c.923A>C (p.Glu308Ala)
c.875A>C (p.Glu292Ala)
c.758A>C (p.Glu253Ala)
c.740A>C (p.Glu247Ala)
3g.69951857A>GCA353561605MITFc.860A>G (p.Glu287Gly)
c.857A>G (p.Glu286Gly)
n.1082A>G
c.833A>G (p.Glu278Gly)
c.926A>G (p.Glu309Gly)
c.605A>G (p.Glu202Gly)
c.905A>G (p.Glu302Gly)
c.908A>G (p.Glu303Gly)
c.587A>G (p.Glu196Gly)
c.878A>G (p.Glu293Gly)
c.752A>G (p.Glu251Gly)
c.*252A>G (n.*252A>G)
c.419A>G (p.Glu140Gly)
c.770A>G (p.Glu257Gly)
c.923A>G (p.Glu308Gly)
c.875A>G (p.Glu292Gly)
c.758A>G (p.Glu253Gly)
c.740A>G (p.Glu247Gly)
 COSMIC COSMIC COSMIC COSMIC
3g.69951857A>TCA353561604MITFc.860A>T (p.Glu287Val)
c.857A>T (p.Glu286Val)
n.1082A>T
c.833A>T (p.Glu278Val)
c.926A>T (p.Glu309Val)
c.605A>T (p.Glu202Val)
c.905A>T (p.Glu302Val)
c.908A>T (p.Glu303Val)
c.587A>T (p.Glu196Val)
c.878A>T (p.Glu293Val)
c.752A>T (p.Glu251Val)
c.*252A>T (n.*252A>T)
c.419A>T (p.Glu140Val)
c.770A>T (p.Glu257Val)
c.923A>T (p.Glu308Val)
c.875A>T (p.Glu292Val)
c.758A>T (p.Glu253Val)
c.740A>T (p.Glu247Val)
3g.69951858G>ACA434306285MITFc.861G>A (p.Glu287=)
c.858G>A (p.Glu286=)
n.1083G>A
c.834G>A (p.Glu278=)
c.927G>A (p.Glu309=)
c.606G>A (p.Glu202=)
c.906G>A (p.Glu302=)
c.909G>A (p.Glu303=)
c.588G>A (p.Glu196=)
c.879G>A (p.Glu293=)
c.753G>A (p.Glu251=)
c.*253G>A (n.*253G>A)
c.420G>A (p.Glu140=)
c.771G>A (p.Glu257=)
c.924G>A (p.Glu308=)
c.876G>A (p.Glu292=)
c.759G>A (p.Glu253=)
c.741G>A (p.Glu247=)
 ClinVar gnomAD v4
3g.69951858G>CCA353561606MITFc.861G>C (p.Glu287Asp)
c.858G>C (p.Glu286Asp)
n.1083G>C
c.834G>C (p.Glu278Asp)
c.927G>C (p.Glu309Asp)
c.606G>C (p.Glu202Asp)
c.906G>C (p.Glu302Asp)
c.909G>C (p.Glu303Asp)
c.588G>C (p.Glu196Asp)
c.879G>C (p.Glu293Asp)
c.753G>C (p.Glu251Asp)
c.*253G>C (n.*253G>C)
c.420G>C (p.Glu140Asp)
c.771G>C (p.Glu257Asp)
c.924G>C (p.Glu308Asp)
c.876G>C (p.Glu292Asp)
c.759G>C (p.Glu253Asp)
c.741G>C (p.Glu247Asp)
3g.69951858G>TCA353561607MITFc.861G>T (p.Glu287Asp)
c.858G>T (p.Glu286Asp)
n.1083G>T
c.834G>T (p.Glu278Asp)
c.927G>T (p.Glu309Asp)
c.606G>T (p.Glu202Asp)
c.906G>T (p.Glu302Asp)
c.909G>T (p.Glu303Asp)
c.588G>T (p.Glu196Asp)
c.879G>T (p.Glu293Asp)
c.753G>T (p.Glu251Asp)
c.*253G>T (n.*253G>T)
c.420G>T (p.Glu140Asp)
c.771G>T (p.Glu257Asp)
c.924G>T (p.Glu308Asp)
c.876G>T (p.Glu292Asp)
c.759G>T (p.Glu253Asp)
c.741G>T (p.Glu247Asp)
3g.69951859A=CA1373443553MITFc.862A= (p.Arg288=)
c.859A= (p.Arg287=)
n.1084A=
c.835A= (p.Arg279=)
c.928A= (p.Arg310=)
c.607A= (p.Arg203=)
c.907A= (p.Arg303=)
c.910A= (p.Arg304=)
c.589A= (p.Arg197=)
c.880A= (p.Arg294=)
c.754A= (p.Arg252=)
c.*254A= (n.*254A=)
c.421A= (p.Arg141=)
c.772A= (p.Arg258=)
c.925A= (p.Arg309=)
c.877A= (p.Arg293=)
c.760A= (p.Arg254=)
c.742A= (p.Arg248=)
3g.69951859A>CCA434306286MITFc.862A>C (p.Arg288=)
c.859A>C (p.Arg287=)
n.1084A>C
c.835A>C (p.Arg279=)
c.928A>C (p.Arg310=)
c.607A>C (p.Arg203=)
c.907A>C (p.Arg303=)
c.910A>C (p.Arg304=)
c.589A>C (p.Arg197=)
c.880A>C (p.Arg294=)
c.754A>C (p.Arg252=)
c.*254A>C (n.*254A>C)
c.421A>C (p.Arg141=)
c.772A>C (p.Arg258=)
c.925A>C (p.Arg309=)
c.877A>C (p.Arg293=)
c.760A>C (p.Arg254=)
c.742A>C (p.Arg248=)
3g.69951859A>GCA353561608MITFc.862A>G (p.Arg288Gly)
c.859A>G (p.Arg287Gly)
n.1084A>G
c.835A>G (p.Arg279Gly)
c.928A>G (p.Arg310Gly)
c.607A>G (p.Arg203Gly)
c.907A>G (p.Arg303Gly)
c.910A>G (p.Arg304Gly)
c.589A>G (p.Arg197Gly)
c.880A>G (p.Arg294Gly)
c.754A>G (p.Arg252Gly)
c.*254A>G (n.*254A>G)
c.421A>G (p.Arg141Gly)
c.772A>G (p.Arg258Gly)
c.925A>G (p.Arg309Gly)
c.877A>G (p.Arg293Gly)
c.760A>G (p.Arg254Gly)
c.742A>G (p.Arg248Gly)
 ClinVar dbSNP
3g.69951859A>TCA353561609MITFc.862A>T (p.Arg288Trp)
c.859A>T (p.Arg287Trp)
n.1084A>T
c.835A>T (p.Arg279Trp)
c.928A>T (p.Arg310Trp)
c.607A>T (p.Arg203Trp)
c.907A>T (p.Arg303Trp)
c.910A>T (p.Arg304Trp)
c.589A>T (p.Arg197Trp)
c.880A>T (p.Arg294Trp)
c.754A>T (p.Arg252Trp)
c.*254A>T (n.*254A>T)
c.421A>T (p.Arg141Trp)
c.772A>T (p.Arg258Trp)
c.925A>T (p.Arg309Trp)
c.877A>T (p.Arg293Trp)
c.760A>T (p.Arg254Trp)
c.742A>T (p.Arg248Trp)
3g.69951860G>ACA353561610MITFc.863G>A (p.Arg288Lys)
c.860G>A (p.Arg287Lys)
n.1085G>A
c.836G>A (p.Arg279Lys)
c.929G>A (p.Arg310Lys)
c.608G>A (p.Arg203Lys)
c.908G>A (p.Arg303Lys)
c.911G>A (p.Arg304Lys)
c.590G>A (p.Arg197Lys)
c.881G>A (p.Arg294Lys)
c.755G>A (p.Arg252Lys)
c.*255G>A (n.*255G>A)
c.422G>A (p.Arg141Lys)
c.773G>A (p.Arg258Lys)
c.926G>A (p.Arg309Lys)
c.878G>A (p.Arg293Lys)
c.761G>A (p.Arg254Lys)
c.743G>A (p.Arg248Lys)
 ClinVar
3g.69951860G>CCA353561612MITFc.863G>C (p.Arg288Thr)
c.860G>C (p.Arg287Thr)
n.1085G>C
c.836G>C (p.Arg279Thr)
c.929G>C (p.Arg310Thr)
c.608G>C (p.Arg203Thr)
c.908G>C (p.Arg303Thr)
c.911G>C (p.Arg304Thr)
c.590G>C (p.Arg197Thr)
c.881G>C (p.Arg294Thr)
c.755G>C (p.Arg252Thr)
c.*255G>C (n.*255G>C)
c.422G>C (p.Arg141Thr)
c.773G>C (p.Arg258Thr)
c.926G>C (p.Arg309Thr)
c.878G>C (p.Arg293Thr)
c.761G>C (p.Arg254Thr)
c.743G>C (p.Arg248Thr)
3g.69951860G>TCA353561611MITFc.863G>T (p.Arg288Met)
c.860G>T (p.Arg287Met)
n.1085G>T
c.836G>T (p.Arg279Met)
c.929G>T (p.Arg310Met)
c.608G>T (p.Arg203Met)
c.908G>T (p.Arg303Met)
c.911G>T (p.Arg304Met)
c.590G>T (p.Arg197Met)
c.881G>T (p.Arg294Met)
c.755G>T (p.Arg252Met)
c.*255G>T (n.*255G>T)
c.422G>T (p.Arg141Met)
c.773G>T (p.Arg258Met)
c.926G>T (p.Arg309Met)
c.878G>T (p.Arg293Met)
c.761G>T (p.Arg254Met)
c.743G>T (p.Arg248Met)
3g.69951861G>ACA2490510MITFc.864G>A (p.Arg288=)
c.861G>A (p.Arg287=)
n.1086G>A
c.837G>A (p.Arg279=)
c.930G>A (p.Arg310=)
c.609G>A (p.Arg203=)
c.909G>A (p.Arg303=)
c.912G>A (p.Arg304=)
c.591G>A (p.Arg197=)
c.882G>A (p.Arg294=)
c.756G>A (p.Arg252=)
c.*256G>A (n.*256G>A)
c.423G>A (p.Arg141=)
c.774G>A (p.Arg258=)
c.927G>A (p.Arg309=)
c.879G>A (p.Arg293=)
c.762G>A (p.Arg254=)
c.744G>A (p.Arg248=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69951861G>CCA353561613MITFc.864G>C (p.Arg288Ser)
c.861G>C (p.Arg287Ser)
n.1086G>C
c.837G>C (p.Arg279Ser)
c.930G>C (p.Arg310Ser)
c.609G>C (p.Arg203Ser)
c.909G>C (p.Arg303Ser)
c.912G>C (p.Arg304Ser)
c.591G>C (p.Arg197Ser)
c.882G>C (p.Arg294Ser)
c.756G>C (p.Arg252Ser)
c.*256G>C (n.*256G>C)
c.423G>C (p.Arg141Ser)
c.774G>C (p.Arg258Ser)
c.927G>C (p.Arg309Ser)
c.879G>C (p.Arg293Ser)
c.762G>C (p.Arg254Ser)
c.744G>C (p.Arg248Ser)
3g.69951861G=CA1373443555MITFc.864G= (p.Arg288=)
c.861G= (p.Arg287=)
n.1086G=
c.837G= (p.Arg279=)
c.930G= (p.Arg310=)
c.609G= (p.Arg203=)
c.909G= (p.Arg303=)
c.912G= (p.Arg304=)
c.591G= (p.Arg197=)
c.882G= (p.Arg294=)
c.756G= (p.Arg252=)
c.*256G= (n.*256G=)
c.423G= (p.Arg141=)
c.774G= (p.Arg258=)
c.927G= (p.Arg309=)
c.879G= (p.Arg293=)
c.762G= (p.Arg254=)
c.744G= (p.Arg248=)
3g.69951861G>TCA353561614MITFc.864G>T (p.Arg288Ser)
c.861G>T (p.Arg287Ser)
n.1086G>T
c.837G>T (p.Arg279Ser)
c.930G>T (p.Arg310Ser)
c.609G>T (p.Arg203Ser)
c.909G>T (p.Arg303Ser)
c.912G>T (p.Arg304Ser)
c.591G>T (p.Arg197Ser)
c.882G>T (p.Arg294Ser)
c.756G>T (p.Arg252Ser)
c.*256G>T (n.*256G>T)
c.423G>T (p.Arg141Ser)
c.774G>T (p.Arg258Ser)
c.927G>T (p.Arg309Ser)
c.879G>T (p.Arg293Ser)
c.762G>T (p.Arg254Ser)
c.744G>T (p.Arg248Ser)
3g.69951862C>ACA353561615MITFc.865C>A (p.Gln289Lys)
c.862C>A (p.Gln288Lys)
n.1087C>A
c.838C>A (p.Gln280Lys)
c.931C>A (p.Gln311Lys)
c.610C>A (p.Gln204Lys)
c.910C>A (p.Gln304Lys)
c.913C>A (p.Gln305Lys)
c.592C>A (p.Gln198Lys)
c.883C>A (p.Gln295Lys)
c.757C>A (p.Gln253Lys)
c.*257C>A (n.*257C>A)
c.424C>A (p.Gln142Lys)
c.775C>A (p.Gln259Lys)
c.928C>A (p.Gln310Lys)
c.880C>A (p.Gln294Lys)
c.763C>A (p.Gln255Lys)
c.745C>A (p.Gln249Lys)
3g.69951862C=CA1373443558MITFc.865C= (p.Gln289=)
c.862C= (p.Gln288=)
n.1087C=
c.838C= (p.Gln280=)
c.931C= (p.Gln311=)
c.610C= (p.Gln204=)
c.910C= (p.Gln304=)
c.913C= (p.Gln305=)
c.592C= (p.Gln198=)
c.883C= (p.Gln295=)
c.757C= (p.Gln253=)
c.*257C= (n.*257C=)
c.424C= (p.Gln142=)
c.775C= (p.Gln259=)
c.928C= (p.Gln310=)
c.880C= (p.Gln294=)
c.763C= (p.Gln255=)
c.745C= (p.Gln249=)
3g.69951862C>GCA353561616MITFc.865C>G (p.Gln289Glu)
c.862C>G (p.Gln288Glu)
n.1087C>G
c.838C>G (p.Gln280Glu)
c.931C>G (p.Gln311Glu)
c.610C>G (p.Gln204Glu)
c.910C>G (p.Gln304Glu)
c.913C>G (p.Gln305Glu)
c.592C>G (p.Gln198Glu)
c.883C>G (p.Gln295Glu)
c.757C>G (p.Gln253Glu)
c.*257C>G (n.*257C>G)
c.424C>G (p.Gln142Glu)
c.775C>G (p.Gln259Glu)
c.928C>G (p.Gln310Glu)
c.880C>G (p.Gln294Glu)
c.763C>G (p.Gln255Glu)
c.745C>G (p.Gln249Glu)
3g.69951862C>TCA353561617MITFc.865C>T (p.Gln289Ter)
c.862C>T (p.Gln288Ter)
n.1087C>T
c.838C>T (p.Gln280Ter)
c.931C>T (p.Gln311Ter)
c.610C>T (p.Gln204Ter)
c.910C>T (p.Gln304Ter)
c.913C>T (p.Gln305Ter)
c.592C>T (p.Gln198Ter)
c.883C>T (p.Gln295Ter)
c.757C>T (p.Gln253Ter)
c.*257C>T (n.*257C>T)
c.424C>T (p.Gln142Ter)
c.775C>T (p.Gln259Ter)
c.928C>T (p.Gln310Ter)
c.880C>T (p.Gln294Ter)
c.763C>T (p.Gln255Ter)
c.745C>T (p.Gln249Ter)
 ClinVar dbSNP
3g.69951863A>CCA353561618MITFc.866A>C (p.Gln289Pro)
c.863A>C (p.Gln288Pro)
n.1088A>C
c.839A>C (p.Gln280Pro)
c.932A>C (p.Gln311Pro)
c.611A>C (p.Gln204Pro)
c.911A>C (p.Gln304Pro)
c.914A>C (p.Gln305Pro)
c.593A>C (p.Gln198Pro)
c.884A>C (p.Gln295Pro)
c.758A>C (p.Gln253Pro)
c.*258A>C (n.*258A>C)
c.425A>C (p.Gln142Pro)
c.776A>C (p.Gln259Pro)
c.929A>C (p.Gln310Pro)
c.881A>C (p.Gln294Pro)
c.764A>C (p.Gln255Pro)
c.746A>C (p.Gln249Pro)
3g.69951863A>GCA353561619MITFc.866A>G (p.Gln289Arg)
c.863A>G (p.Gln288Arg)
n.1088A>G
c.839A>G (p.Gln280Arg)
c.932A>G (p.Gln311Arg)
c.611A>G (p.Gln204Arg)
c.911A>G (p.Gln304Arg)
c.914A>G (p.Gln305Arg)
c.593A>G (p.Gln198Arg)
c.884A>G (p.Gln295Arg)
c.758A>G (p.Gln253Arg)
c.*258A>G (n.*258A>G)
c.425A>G (p.Gln142Arg)
c.776A>G (p.Gln259Arg)
c.929A>G (p.Gln310Arg)
c.881A>G (p.Gln294Arg)
c.764A>G (p.Gln255Arg)
c.746A>G (p.Gln249Arg)
3g.69951863A>TCA353561620MITFc.866A>T (p.Gln289Leu)
c.863A>T (p.Gln288Leu)
n.1088A>T
c.839A>T (p.Gln280Leu)
c.932A>T (p.Gln311Leu)
c.611A>T (p.Gln204Leu)
c.911A>T (p.Gln304Leu)
c.914A>T (p.Gln305Leu)
c.593A>T (p.Gln198Leu)
c.884A>T (p.Gln295Leu)
c.758A>T (p.Gln253Leu)
c.*258A>T (n.*258A>T)
c.425A>T (p.Gln142Leu)
c.776A>T (p.Gln259Leu)
c.929A>T (p.Gln310Leu)
c.881A>T (p.Gln294Leu)
c.764A>T (p.Gln255Leu)
c.746A>T (p.Gln249Leu)
3g.69951864G>ACA434306287MITFc.867G>A (p.Gln289=)
c.864G>A (p.Gln288=)
n.1089G>A
c.840G>A (p.Gln280=)
c.933G>A (p.Gln311=)
c.612G>A (p.Gln204=)
c.912G>A (p.Gln304=)
c.915G>A (p.Gln305=)
c.594G>A (p.Gln198=)
c.885G>A (p.Gln295=)
c.759G>A (p.Gln253=)
c.*259G>A (n.*259G>A)
c.426G>A (p.Gln142=)
c.777G>A (p.Gln259=)
c.930G>A (p.Gln310=)
c.882G>A (p.Gln294=)
c.765G>A (p.Gln255=)
c.747G>A (p.Gln249=)
 dbSNP
3g.69951864G>CCA353561621MITFc.867G>C (p.Gln289His)
c.864G>C (p.Gln288His)
n.1089G>C
c.840G>C (p.Gln280His)
c.933G>C (p.Gln311His)
c.612G>C (p.Gln204His)
c.912G>C (p.Gln304His)
c.915G>C (p.Gln305His)
c.594G>C (p.Gln198His)
c.885G>C (p.Gln295His)
c.759G>C (p.Gln253His)
c.*259G>C (n.*259G>C)
c.426G>C (p.Gln142His)
c.777G>C (p.Gln259His)
c.930G>C (p.Gln310His)
c.882G>C (p.Gln294His)
c.765G>C (p.Gln255His)
c.747G>C (p.Gln249His)
3g.69951864G>TCA353561622MITFc.867G>T (p.Gln289His)
c.864G>T (p.Gln288His)
n.1089G>T
c.840G>T (p.Gln280His)
c.933G>T (p.Gln311His)
c.612G>T (p.Gln204His)
c.912G>T (p.Gln304His)
c.915G>T (p.Gln305His)
c.594G>T (p.Gln198His)
c.885G>T (p.Gln295His)
c.759G>T (p.Gln253His)
c.*259G>T (n.*259G>T)
c.426G>T (p.Gln142His)
c.777G>T (p.Gln259His)
c.930G>T (p.Gln310His)
c.882G>T (p.Gln294His)
c.765G>T (p.Gln255His)
c.747G>T (p.Gln249His)
3g.69951865A>CCA353561623MITFc.868A>C (p.Lys290Gln)
c.865A>C (p.Lys289Gln)
n.1090A>C
c.841A>C (p.Lys281Gln)
c.934A>C (p.Lys312Gln)
c.613A>C (p.Lys205Gln)
c.913A>C (p.Lys305Gln)
c.916A>C (p.Lys306Gln)
c.595A>C (p.Lys199Gln)
c.886A>C (p.Lys296Gln)
c.760A>C (p.Lys254Gln)
c.*260A>C (n.*260A>C)
c.427A>C (p.Lys143Gln)
c.778A>C (p.Lys260Gln)
c.931A>C (p.Lys311Gln)
c.883A>C (p.Lys295Gln)
c.766A>C (p.Lys256Gln)
c.748A>C (p.Lys250Gln)
3g.69951865A>GCA353561625MITFc.868A>G (p.Lys290Glu)
c.865A>G (p.Lys289Glu)
n.1090A>G
c.841A>G (p.Lys281Glu)
c.934A>G (p.Lys312Glu)
c.613A>G (p.Lys205Glu)
c.913A>G (p.Lys305Glu)
c.916A>G (p.Lys306Glu)
c.595A>G (p.Lys199Glu)
c.886A>G (p.Lys296Glu)
c.760A>G (p.Lys254Glu)
c.*260A>G (n.*260A>G)
c.427A>G (p.Lys143Glu)
c.778A>G (p.Lys260Glu)
c.931A>G (p.Lys311Glu)
c.883A>G (p.Lys295Glu)
c.766A>G (p.Lys256Glu)
c.748A>G (p.Lys250Glu)
3g.69951865A>TCA353561624MITFc.868A>T (p.Lys290Ter)
c.865A>T (p.Lys289Ter)
n.1090A>T
c.841A>T (p.Lys281Ter)
c.934A>T (p.Lys312Ter)
c.613A>T (p.Lys205Ter)
c.913A>T (p.Lys305Ter)
c.916A>T (p.Lys306Ter)
c.595A>T (p.Lys199Ter)
c.886A>T (p.Lys296Ter)
c.760A>T (p.Lys254Ter)
c.*260A>T (n.*260A>T)
c.427A>T (p.Lys143Ter)
c.778A>T (p.Lys260Ter)
c.931A>T (p.Lys311Ter)
c.883A>T (p.Lys295Ter)
c.766A>T (p.Lys256Ter)
c.748A>T (p.Lys250Ter)
3g.69951869delCA645533382MITFc.872del (p.Lys291ArgfsTer6)
c.869del (p.Lys290ArgfsTer6)
n.1094del
c.845del (p.Lys282ArgfsTer6)
c.938del (p.Lys313ArgfsTer6)
c.617del (p.Lys206ArgfsTer6)
c.917del (p.Lys306ArgfsTer6)
c.920del (p.Lys307ArgfsTer6)
c.599del (p.Lys200ArgfsTer6)
c.890del (p.Lys297ArgfsTer6)
c.764del (p.Lys255ArgfsTer6)
c.*264del (n.*264del)
c.431del (p.Lys144ArgfsTer6)
c.782del (p.Lys261ArgfsTer6)
c.935del (p.Lys312ArgfsTer6)
c.887del (p.Lys296ArgfsTer6)
c.770del (p.Lys257ArgfsTer6)
c.752del (p.Lys251ArgfsTer6)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
3g.69951868_69951869delCA2586972643MITFc.871_872del (p.Lys291GlyfsTer7)
c.868_869del (p.Lys290GlyfsTer7)
n.1093_1094del
c.844_845del (p.Lys282GlyfsTer7)
c.937_938del (p.Lys313GlyfsTer7)
c.616_617del (p.Lys206GlyfsTer7)
c.916_917del (p.Lys306GlyfsTer7)
c.919_920del (p.Lys307GlyfsTer7)
c.598_599del (p.Lys200GlyfsTer7)
c.889_890del (p.Lys297GlyfsTer7)
c.763_764del (p.Lys255GlyfsTer7)
c.*263_*264del (n.*263_*264del)
c.430_431del (p.Lys144GlyfsTer7)
c.781_782del (p.Lys261GlyfsTer7)
c.934_935del (p.Lys312GlyfsTer7)
c.886_887del (p.Lys296GlyfsTer7)
c.769_770del (p.Lys257GlyfsTer7)
c.751_752del (p.Lys251GlyfsTer7)
3g.69951866A>CCA353561626MITFc.869A>C (p.Lys290Thr)
c.866A>C (p.Lys289Thr)
n.1091A>C
c.842A>C (p.Lys281Thr)
c.935A>C (p.Lys312Thr)
c.614A>C (p.Lys205Thr)
c.914A>C (p.Lys305Thr)
c.917A>C (p.Lys306Thr)
c.596A>C (p.Lys199Thr)
c.887A>C (p.Lys296Thr)
c.761A>C (p.Lys254Thr)
c.*261A>C (n.*261A>C)
c.428A>C (p.Lys143Thr)
c.779A>C (p.Lys260Thr)
c.932A>C (p.Lys311Thr)
c.884A>C (p.Lys295Thr)
c.767A>C (p.Lys256Thr)
c.749A>C (p.Lys250Thr)
3g.69951866A>GCA353561627MITFc.869A>G (p.Lys290Arg)
c.866A>G (p.Lys289Arg)
n.1091A>G
c.842A>G (p.Lys281Arg)
c.935A>G (p.Lys312Arg)
c.614A>G (p.Lys205Arg)
c.914A>G (p.Lys305Arg)
c.917A>G (p.Lys306Arg)
c.596A>G (p.Lys199Arg)
c.887A>G (p.Lys296Arg)
c.761A>G (p.Lys254Arg)
c.*261A>G (n.*261A>G)
c.428A>G (p.Lys143Arg)
c.779A>G (p.Lys260Arg)
c.932A>G (p.Lys311Arg)
c.884A>G (p.Lys295Arg)
c.767A>G (p.Lys256Arg)
c.749A>G (p.Lys250Arg)
3g.69951866A>TCA353561628MITFc.869A>T (p.Lys290Ile)
c.866A>T (p.Lys289Ile)
n.1091A>T
c.842A>T (p.Lys281Ile)
c.935A>T (p.Lys312Ile)
c.614A>T (p.Lys205Ile)
c.914A>T (p.Lys305Ile)
c.917A>T (p.Lys306Ile)
c.596A>T (p.Lys199Ile)
c.887A>T (p.Lys296Ile)
c.761A>T (p.Lys254Ile)
c.*261A>T (n.*261A>T)
c.428A>T (p.Lys143Ile)
c.779A>T (p.Lys260Ile)
c.932A>T (p.Lys311Ile)
c.884A>T (p.Lys295Ile)
c.767A>T (p.Lys256Ile)
c.749A>T (p.Lys250Ile)
3g.69951867A>CCA353561629MITFc.870A>C (p.Lys290Asn)
c.867A>C (p.Lys289Asn)
n.1092A>C
c.843A>C (p.Lys281Asn)
c.936A>C (p.Lys312Asn)
c.615A>C (p.Lys205Asn)
c.915A>C (p.Lys305Asn)
c.918A>C (p.Lys306Asn)
c.597A>C (p.Lys199Asn)
c.888A>C (p.Lys296Asn)
c.762A>C (p.Lys254Asn)
c.*262A>C (n.*262A>C)
c.429A>C (p.Lys143Asn)
c.780A>C (p.Lys260Asn)
c.933A>C (p.Lys311Asn)
c.885A>C (p.Lys295Asn)
c.768A>C (p.Lys256Asn)
c.750A>C (p.Lys250Asn)
3g.69951867A>GCA434306288MITFc.870A>G (p.Lys290=)
c.867A>G (p.Lys289=)
n.1092A>G
c.843A>G (p.Lys281=)
c.936A>G (p.Lys312=)
c.615A>G (p.Lys205=)
c.915A>G (p.Lys305=)
c.918A>G (p.Lys306=)
c.597A>G (p.Lys199=)
c.888A>G (p.Lys296=)
c.762A>G (p.Lys254=)
c.*262A>G (n.*262A>G)
c.429A>G (p.Lys143=)
c.780A>G (p.Lys260=)
c.933A>G (p.Lys311=)
c.885A>G (p.Lys295=)
c.768A>G (p.Lys256=)
c.750A>G (p.Lys250=)
3g.69951867A>TCA353561630MITFc.870A>T (p.Lys290Asn)
c.867A>T (p.Lys289Asn)
n.1092A>T
c.843A>T (p.Lys281Asn)
c.936A>T (p.Lys312Asn)
c.615A>T (p.Lys205Asn)
c.915A>T (p.Lys305Asn)
c.918A>T (p.Lys306Asn)
c.597A>T (p.Lys199Asn)
c.888A>T (p.Lys296Asn)
c.762A>T (p.Lys254Asn)
c.*262A>T (n.*262A>T)
c.429A>T (p.Lys143Asn)
c.780A>T (p.Lys260Asn)
c.933A>T (p.Lys311Asn)
c.885A>T (p.Lys295Asn)
c.768A>T (p.Lys256Asn)
c.750A>T (p.Lys250Asn)
3g.69951868A>CCA353561631MITFc.871A>C (p.Lys291Gln)
c.868A>C (p.Lys290Gln)
n.1093A>C
c.844A>C (p.Lys282Gln)
c.937A>C (p.Lys313Gln)
c.616A>C (p.Lys206Gln)
c.916A>C (p.Lys306Gln)
c.919A>C (p.Lys307Gln)
c.598A>C (p.Lys200Gln)
c.889A>C (p.Lys297Gln)
c.763A>C (p.Lys255Gln)
c.*263A>C (n.*263A>C)
c.430A>C (p.Lys144Gln)
c.781A>C (p.Lys261Gln)
c.934A>C (p.Lys312Gln)
c.886A>C (p.Lys296Gln)
c.769A>C (p.Lys257Gln)
c.751A>C (p.Lys251Gln)
 ClinVar
3g.69951868A>GCA353561632MITFc.871A>G (p.Lys291Glu)
c.868A>G (p.Lys290Glu)
n.1093A>G
c.844A>G (p.Lys282Glu)
c.937A>G (p.Lys313Glu)
c.616A>G (p.Lys206Glu)
c.916A>G (p.Lys306Glu)
c.919A>G (p.Lys307Glu)
c.598A>G (p.Lys200Glu)
c.889A>G (p.Lys297Glu)
c.763A>G (p.Lys255Glu)
c.*263A>G (n.*263A>G)
c.430A>G (p.Lys144Glu)
c.781A>G (p.Lys261Glu)
c.934A>G (p.Lys312Glu)
c.886A>G (p.Lys296Glu)
c.769A>G (p.Lys257Glu)
c.751A>G (p.Lys251Glu)
3g.69951868A>TCA353561633MITFc.871A>T (p.Lys291Ter)
c.868A>T (p.Lys290Ter)
n.1093A>T
c.844A>T (p.Lys282Ter)
c.937A>T (p.Lys313Ter)
c.616A>T (p.Lys206Ter)
c.916A>T (p.Lys306Ter)
c.919A>T (p.Lys307Ter)
c.598A>T (p.Lys200Ter)
c.889A>T (p.Lys297Ter)
c.763A>T (p.Lys255Ter)
c.*263A>T (n.*263A>T)
c.430A>T (p.Lys144Ter)
c.781A>T (p.Lys261Ter)
c.934A>T (p.Lys312Ter)
c.886A>T (p.Lys296Ter)
c.769A>T (p.Lys257Ter)
c.751A>T (p.Lys251Ter)
3g.69951869A>CCA353561634MITFc.872A>C (p.Lys291Thr)
c.869A>C (p.Lys290Thr)
n.1094A>C
c.845A>C (p.Lys282Thr)
c.938A>C (p.Lys313Thr)
c.617A>C (p.Lys206Thr)
c.917A>C (p.Lys306Thr)
c.920A>C (p.Lys307Thr)
c.599A>C (p.Lys200Thr)
c.890A>C (p.Lys297Thr)
c.764A>C (p.Lys255Thr)
c.*264A>C (n.*264A>C)
c.431A>C (p.Lys144Thr)
c.782A>C (p.Lys261Thr)
c.935A>C (p.Lys312Thr)
c.887A>C (p.Lys296Thr)
c.770A>C (p.Lys257Thr)
c.752A>C (p.Lys251Thr)
3g.69951869A>GCA353561635MITFc.872A>G (p.Lys291Arg)
c.869A>G (p.Lys290Arg)
n.1094A>G
c.845A>G (p.Lys282Arg)
c.938A>G (p.Lys313Arg)
c.617A>G (p.Lys206Arg)
c.917A>G (p.Lys306Arg)
c.920A>G (p.Lys307Arg)
c.599A>G (p.Lys200Arg)
c.890A>G (p.Lys297Arg)
c.764A>G (p.Lys255Arg)
c.*264A>G (n.*264A>G)
c.431A>G (p.Lys144Arg)
c.782A>G (p.Lys261Arg)
c.935A>G (p.Lys312Arg)
c.887A>G (p.Lys296Arg)
c.770A>G (p.Lys257Arg)
c.752A>G (p.Lys251Arg)
 dbSNP gnomAD v4
3g.69951869A>TCA353561636MITFc.872A>T (p.Lys291Met)
c.869A>T (p.Lys290Met)
n.1094A>T
c.845A>T (p.Lys282Met)
c.938A>T (p.Lys313Met)
c.617A>T (p.Lys206Met)
c.917A>T (p.Lys306Met)
c.920A>T (p.Lys307Met)
c.599A>T (p.Lys200Met)
c.890A>T (p.Lys297Met)
c.764A>T (p.Lys255Met)
c.*264A>T (n.*264A>T)
c.431A>T (p.Lys144Met)
c.782A>T (p.Lys261Met)
c.935A>T (p.Lys312Met)
c.887A>T (p.Lys296Met)
c.770A>T (p.Lys257Met)
c.752A>T (p.Lys251Met)
 COSMIC COSMIC COSMIC COSMIC
3g.69951870G>ACA434306289MITFc.873G>A (p.Lys291=)
c.870G>A (p.Lys290=)
n.1095G>A
c.846G>A (p.Lys282=)
c.939G>A (p.Lys313=)
c.618G>A (p.Lys206=)
c.918G>A (p.Lys306=)
c.921G>A (p.Lys307=)
c.600G>A (p.Lys200=)
c.891G>A (p.Lys297=)
c.765G>A (p.Lys255=)
c.*265G>A (n.*265G>A)
c.432G>A (p.Lys144=)
c.783G>A (p.Lys261=)
c.936G>A (p.Lys312=)
c.888G>A (p.Lys296=)
c.771G>A (p.Lys257=)
c.753G>A (p.Lys251=)
3g.69951870G>CCA16044010MITFc.873G>C (p.Lys291Asn)
c.870G>C (p.Lys290Asn)
n.1095G>C
c.846G>C (p.Lys282Asn)
c.939G>C (p.Lys313Asn)
c.618G>C (p.Lys206Asn)
c.918G>C (p.Lys306Asn)
c.921G>C (p.Lys307Asn)
c.600G>C (p.Lys200Asn)
c.891G>C (p.Lys297Asn)
c.765G>C (p.Lys255Asn)
c.*265G>C (n.*265G>C)
c.432G>C (p.Lys144Asn)
c.783G>C (p.Lys261Asn)
c.936G>C (p.Lys312Asn)
c.888G>C (p.Lys296Asn)
c.771G>C (p.Lys257Asn)
c.753G>C (p.Lys251Asn)
 ClinVar dbSNP
3g.69951870G=CA1373443565MITFc.873G= (p.Lys291=)
c.870G= (p.Lys290=)
n.1095G=
c.846G= (p.Lys282=)
c.939G= (p.Lys313=)
c.618G= (p.Lys206=)
c.918G= (p.Lys306=)
c.921G= (p.Lys307=)
c.600G= (p.Lys200=)
c.891G= (p.Lys297=)
c.765G= (p.Lys255=)
c.*265G= (n.*265G=)
c.432G= (p.Lys144=)
c.783G= (p.Lys261=)
c.936G= (p.Lys312=)
c.888G= (p.Lys296=)
c.771G= (p.Lys257=)
c.753G= (p.Lys251=)
3g.69951870G>TCA353561637MITFc.873G>T (p.Lys291Asn)
c.870G>T (p.Lys290Asn)
n.1095G>T
c.846G>T (p.Lys282Asn)
c.939G>T (p.Lys313Asn)
c.618G>T (p.Lys206Asn)
c.918G>T (p.Lys306Asn)
c.921G>T (p.Lys307Asn)
c.600G>T (p.Lys200Asn)
c.891G>T (p.Lys297Asn)
c.765G>T (p.Lys255Asn)
c.*265G>T (n.*265G>T)
c.432G>T (p.Lys144Asn)
c.783G>T (p.Lys261Asn)
c.936G>T (p.Lys312Asn)
c.888G>T (p.Lys296Asn)
c.771G>T (p.Lys257Asn)
c.753G>T (p.Lys251Asn)
3g.69951871G>ACA353561638MITFc.874G>A (p.Asp292Asn)
c.871G>A (p.Asp291Asn)
n.1096G>A
c.847G>A (p.Asp283Asn)
c.940G>A (p.Asp314Asn)
c.619G>A (p.Asp207Asn)
c.919G>A (p.Asp307Asn)
c.922G>A (p.Asp308Asn)
c.601G>A (p.Asp201Asn)
c.892G>A (p.Asp298Asn)
c.766G>A (p.Asp256Asn)
c.*266G>A (n.*266G>A)
c.433G>A (p.Asp145Asn)
c.784G>A (p.Asp262Asn)
c.937G>A (p.Asp313Asn)
c.889G>A (p.Asp297Asn)
c.772G>A (p.Asp258Asn)
c.754G>A (p.Asp252Asn)
 gnomAD v4
3g.69951871G>CCA353561640MITFc.874G>C (p.Asp292His)
c.871G>C (p.Asp291His)
n.1096G>C
c.847G>C (p.Asp283His)
c.940G>C (p.Asp314His)
c.619G>C (p.Asp207His)
c.919G>C (p.Asp307His)
c.922G>C (p.Asp308His)
c.601G>C (p.Asp201His)
c.892G>C (p.Asp298His)
c.766G>C (p.Asp256His)
c.*266G>C (n.*266G>C)
c.433G>C (p.Asp145His)
c.784G>C (p.Asp262His)
c.937G>C (p.Asp313His)
c.889G>C (p.Asp297His)
c.772G>C (p.Asp258His)
c.754G>C (p.Asp252His)
3g.69951871G>TCA353561639MITFc.874G>T (p.Asp292Tyr)
c.871G>T (p.Asp291Tyr)
n.1096G>T
c.847G>T (p.Asp283Tyr)
c.940G>T (p.Asp314Tyr)
c.619G>T (p.Asp207Tyr)
c.919G>T (p.Asp307Tyr)
c.922G>T (p.Asp308Tyr)
c.601G>T (p.Asp201Tyr)
c.892G>T (p.Asp298Tyr)
c.766G>T (p.Asp256Tyr)
c.*266G>T (n.*266G>T)
c.433G>T (p.Asp145Tyr)
c.784G>T (p.Asp262Tyr)
c.937G>T (p.Asp313Tyr)
c.889G>T (p.Asp297Tyr)
c.772G>T (p.Asp258Tyr)
c.754G>T (p.Asp252Tyr)
3g.69951872A>CCA353561641MITFc.875A>C (p.Asp292Ala)
c.872A>C (p.Asp291Ala)
n.1097A>C
c.848A>C (p.Asp283Ala)
c.941A>C (p.Asp314Ala)
c.620A>C (p.Asp207Ala)
c.920A>C (p.Asp307Ala)
c.923A>C (p.Asp308Ala)
c.602A>C (p.Asp201Ala)
c.893A>C (p.Asp298Ala)
c.767A>C (p.Asp256Ala)
c.*267A>C (n.*267A>C)
c.434A>C (p.Asp145Ala)
c.785A>C (p.Asp262Ala)
c.938A>C (p.Asp313Ala)
c.890A>C (p.Asp297Ala)
c.773A>C (p.Asp258Ala)
c.755A>C (p.Asp252Ala)
3g.69951872A>GCA353561642MITFc.875A>G (p.Asp292Gly)
c.872A>G (p.Asp291Gly)
n.1097A>G
c.848A>G (p.Asp283Gly)
c.941A>G (p.Asp314Gly)
c.620A>G (p.Asp207Gly)
c.920A>G (p.Asp307Gly)
c.923A>G (p.Asp308Gly)
c.602A>G (p.Asp201Gly)
c.893A>G (p.Asp298Gly)
c.767A>G (p.Asp256Gly)
c.*267A>G (n.*267A>G)
c.434A>G (p.Asp145Gly)
c.785A>G (p.Asp262Gly)
c.938A>G (p.Asp313Gly)
c.890A>G (p.Asp297Gly)
c.773A>G (p.Asp258Gly)
c.755A>G (p.Asp252Gly)
3g.69951872A>TCA353561643MITFc.875A>T (p.Asp292Val)
c.872A>T (p.Asp291Val)
n.1097A>T
c.848A>T (p.Asp283Val)
c.941A>T (p.Asp314Val)
c.620A>T (p.Asp207Val)
c.920A>T (p.Asp307Val)
c.923A>T (p.Asp308Val)
c.602A>T (p.Asp201Val)
c.893A>T (p.Asp298Val)
c.767A>T (p.Asp256Val)
c.*267A>T (n.*267A>T)
c.434A>T (p.Asp145Val)
c.785A>T (p.Asp262Val)
c.938A>T (p.Asp313Val)
c.890A>T (p.Asp297Val)
c.773A>T (p.Asp258Val)
c.755A>T (p.Asp252Val)
3g.69951873C>ACA353561644MITFc.876C>A (p.Asp292Glu)
c.873C>A (p.Asp291Glu)
n.1098C>A
c.849C>A (p.Asp283Glu)
c.942C>A (p.Asp314Glu)
c.621C>A (p.Asp207Glu)
c.921C>A (p.Asp307Glu)
c.924C>A (p.Asp308Glu)
c.603C>A (p.Asp201Glu)
c.894C>A (p.Asp298Glu)
c.768C>A (p.Asp256Glu)
c.*268C>A (n.*268C>A)
c.435C>A (p.Asp145Glu)
c.786C>A (p.Asp262Glu)
c.939C>A (p.Asp313Glu)
c.891C>A (p.Asp297Glu)
c.774C>A (p.Asp258Glu)
c.756C>A (p.Asp252Glu)
3g.69951873C>GCA353561645MITFc.876C>G (p.Asp292Glu)
c.873C>G (p.Asp291Glu)
n.1098C>G
c.849C>G (p.Asp283Glu)
c.942C>G (p.Asp314Glu)
c.621C>G (p.Asp207Glu)
c.921C>G (p.Asp307Glu)
c.924C>G (p.Asp308Glu)
c.603C>G (p.Asp201Glu)
c.894C>G (p.Asp298Glu)
c.768C>G (p.Asp256Glu)
c.*268C>G (n.*268C>G)
c.435C>G (p.Asp145Glu)
c.786C>G (p.Asp262Glu)
c.939C>G (p.Asp313Glu)
c.891C>G (p.Asp297Glu)
c.774C>G (p.Asp258Glu)
c.756C>G (p.Asp252Glu)
3g.69951873C>TCA434306290MITFc.876C>T (p.Asp292=)
c.873C>T (p.Asp291=)
n.1098C>T
c.849C>T (p.Asp283=)
c.942C>T (p.Asp314=)
c.621C>T (p.Asp207=)
c.921C>T (p.Asp307=)
c.924C>T (p.Asp308=)
c.603C>T (p.Asp201=)
c.894C>T (p.Asp298=)
c.768C>T (p.Asp256=)
c.*268C>T (n.*268C>T)
c.435C>T (p.Asp145=)
c.786C>T (p.Asp262=)
c.939C>T (p.Asp313=)
c.891C>T (p.Asp297=)
c.774C>T (p.Asp258=)
c.756C>T (p.Asp252=)
3g.69951874A>CCA353561646MITFc.877A>C (p.Asn293His)
c.874A>C (p.Asn292His)
n.1099A>C
c.850A>C (p.Asn284His)
c.943A>C (p.Asn315His)
c.622A>C (p.Asn208His)
c.922A>C (p.Asn308His)
c.925A>C (p.Asn309His)
c.604A>C (p.Asn202His)
c.895A>C (p.Asn299His)
c.769A>C (p.Asn257His)
c.*269A>C (n.*269A>C)
c.436A>C (p.Asn146His)
c.787A>C (p.Asn263His)
c.940A>C (p.Asn314His)
c.892A>C (p.Asn298His)
c.775A>C (p.Asn259His)
c.757A>C (p.Asn253His)
3g.69951874A>GCA353561647MITFc.877A>G (p.Asn293Asp)
c.874A>G (p.Asn292Asp)
n.1099A>G
c.850A>G (p.Asn284Asp)
c.943A>G (p.Asn315Asp)
c.622A>G (p.Asn208Asp)
c.922A>G (p.Asn308Asp)
c.925A>G (p.Asn309Asp)
c.604A>G (p.Asn202Asp)
c.895A>G (p.Asn299Asp)
c.769A>G (p.Asn257Asp)
c.*269A>G (n.*269A>G)
c.436A>G (p.Asn146Asp)
c.787A>G (p.Asn263Asp)
c.940A>G (p.Asn314Asp)
c.892A>G (p.Asn298Asp)
c.775A>G (p.Asn259Asp)
c.757A>G (p.Asn253Asp)
3g.69951874A>TCA353561648MITFc.877A>T (p.Asn293Tyr)
c.874A>T (p.Asn292Tyr)
n.1099A>T
c.850A>T (p.Asn284Tyr)
c.943A>T (p.Asn315Tyr)
c.622A>T (p.Asn208Tyr)
c.922A>T (p.Asn308Tyr)
c.925A>T (p.Asn309Tyr)
c.604A>T (p.Asn202Tyr)
c.895A>T (p.Asn299Tyr)
c.769A>T (p.Asn257Tyr)
c.*269A>T (n.*269A>T)
c.436A>T (p.Asn146Tyr)
c.787A>T (p.Asn263Tyr)
c.940A>T (p.Asn314Tyr)
c.892A>T (p.Asn298Tyr)
c.775A>T (p.Asn259Tyr)
c.757A>T (p.Asn253Tyr)
3g.69951875A=CA1373443568MITFc.878A= (p.Asn293=)
c.875A= (p.Asn292=)
n.1100A=
c.851A= (p.Asn284=)
c.944A= (p.Asn315=)
c.623A= (p.Asn208=)
c.923A= (p.Asn308=)
c.926A= (p.Asn309=)
c.605A= (p.Asn202=)
c.896A= (p.Asn299=)
c.770A= (p.Asn257=)
c.*270A= (n.*270A=)
c.437A= (p.Asn146=)
c.788A= (p.Asn263=)
c.941A= (p.Asn314=)
c.893A= (p.Asn298=)
c.776A= (p.Asn259=)
c.758A= (p.Asn253=)
3g.69951875A>CCA353561649MITFc.878A>C (p.Asn293Thr)
c.875A>C (p.Asn292Thr)
n.1100A>C
c.851A>C (p.Asn284Thr)
c.944A>C (p.Asn315Thr)
c.623A>C (p.Asn208Thr)
c.923A>C (p.Asn308Thr)
c.926A>C (p.Asn309Thr)
c.605A>C (p.Asn202Thr)
c.896A>C (p.Asn299Thr)
c.770A>C (p.Asn257Thr)
c.*270A>C (n.*270A>C)
c.437A>C (p.Asn146Thr)
c.788A>C (p.Asn263Thr)
c.941A>C (p.Asn314Thr)
c.893A>C (p.Asn298Thr)
c.776A>C (p.Asn259Thr)
c.758A>C (p.Asn253Thr)
3g.69951875A>GCA353561650MITFc.878A>G (p.Asn293Ser)
c.875A>G (p.Asn292Ser)
n.1100A>G
c.851A>G (p.Asn284Ser)
c.944A>G (p.Asn315Ser)
c.623A>G (p.Asn208Ser)
c.923A>G (p.Asn308Ser)
c.926A>G (p.Asn309Ser)
c.605A>G (p.Asn202Ser)
c.896A>G (p.Asn299Ser)
c.770A>G (p.Asn257Ser)
c.*270A>G (n.*270A>G)
c.437A>G (p.Asn146Ser)
c.788A>G (p.Asn263Ser)
c.941A>G (p.Asn314Ser)
c.893A>G (p.Asn298Ser)
c.776A>G (p.Asn259Ser)
c.758A>G (p.Asn253Ser)
 dbSNP gnomAD v4
3g.69951875A>TCA353561651MITFc.878A>T (p.Asn293Ile)
c.875A>T (p.Asn292Ile)
n.1100A>T
c.851A>T (p.Asn284Ile)
c.944A>T (p.Asn315Ile)
c.623A>T (p.Asn208Ile)
c.923A>T (p.Asn308Ile)
c.926A>T (p.Asn309Ile)
c.605A>T (p.Asn202Ile)
c.896A>T (p.Asn299Ile)
c.770A>T (p.Asn257Ile)
c.*270A>T (n.*270A>T)
c.437A>T (p.Asn146Ile)
c.788A>T (p.Asn263Ile)
c.941A>T (p.Asn314Ile)
c.893A>T (p.Asn298Ile)
c.776A>T (p.Asn259Ile)
c.758A>T (p.Asn253Ile)
3g.69951876T>ACA353561653MITFc.879T>A (p.Asn293Lys)
c.876T>A (p.Asn292Lys)
n.1101T>A
c.852T>A (p.Asn284Lys)
c.945T>A (p.Asn315Lys)
c.624T>A (p.Asn208Lys)
c.924T>A (p.Asn308Lys)
c.927T>A (p.Asn309Lys)
c.606T>A (p.Asn202Lys)
c.897T>A (p.Asn299Lys)
c.771T>A (p.Asn257Lys)
c.*271T>A (n.*271T>A)
c.438T>A (p.Asn146Lys)
c.789T>A (p.Asn263Lys)
c.942T>A (p.Asn314Lys)
c.894T>A (p.Asn298Lys)
c.777T>A (p.Asn259Lys)
c.759T>A (p.Asn253Lys)
 gnomAD v4
3g.69951876T>CCA434306298MITFc.879T>C (p.Asn293=)
c.876T>C (p.Asn292=)
n.1101T>C
c.852T>C (p.Asn284=)
c.945T>C (p.Asn315=)
c.624T>C (p.Asn208=)
c.924T>C (p.Asn308=)
c.927T>C (p.Asn309=)
c.606T>C (p.Asn202=)
c.897T>C (p.Asn299=)
c.771T>C (p.Asn257=)
c.*271T>C (n.*271T>C)
c.438T>C (p.Asn146=)
c.789T>C (p.Asn263=)
c.942T>C (p.Asn314=)
c.894T>C (p.Asn298=)
c.777T>C (p.Asn259=)
c.759T>C (p.Asn253=)
 gnomAD v4
3g.69951876T>GCA353561652MITFc.879T>G (p.Asn293Lys)
c.876T>G (p.Asn292Lys)
n.1101T>G
c.852T>G (p.Asn284Lys)
c.945T>G (p.Asn315Lys)
c.624T>G (p.Asn208Lys)
c.924T>G (p.Asn308Lys)
c.927T>G (p.Asn309Lys)
c.606T>G (p.Asn202Lys)
c.897T>G (p.Asn299Lys)
c.771T>G (p.Asn257Lys)
c.*271T>G (n.*271T>G)
c.438T>G (p.Asn146Lys)
c.789T>G (p.Asn263Lys)
c.942T>G (p.Asn314Lys)
c.894T>G (p.Asn298Lys)
c.777T>G (p.Asn259Lys)
c.759T>G (p.Asn253Lys)
3g.69951877C>ACA353561654MITFc.880C>A (p.His294Asn)
c.877C>A (p.His293Asn)
n.1102C>A
c.853C>A (p.His285Asn)
c.946C>A (p.His316Asn)
c.625C>A (p.His209Asn)
c.925C>A (p.His309Asn)
c.928C>A (p.His310Asn)
c.607C>A (p.His203Asn)
c.898C>A (p.His300Asn)
c.772C>A (p.His258Asn)
c.*272C>A (n.*272C>A)
c.439C>A (p.His147Asn)
c.790C>A (p.His264Asn)
c.943C>A (p.His315Asn)
c.895C>A (p.His299Asn)
c.778C>A (p.His260Asn)
c.760C>A (p.His254Asn)
 gnomAD v4
3g.69951877C>GCA353561656MITFc.880C>G (p.His294Asp)
c.877C>G (p.His293Asp)
n.1102C>G
c.853C>G (p.His285Asp)
c.946C>G (p.His316Asp)
c.625C>G (p.His209Asp)
c.925C>G (p.His309Asp)
c.928C>G (p.His310Asp)
c.607C>G (p.His203Asp)
c.898C>G (p.His300Asp)
c.772C>G (p.His258Asp)
c.*272C>G (n.*272C>G)
c.439C>G (p.His147Asp)
c.790C>G (p.His264Asp)
c.943C>G (p.His315Asp)
c.895C>G (p.His299Asp)
c.778C>G (p.His260Asp)
c.760C>G (p.His254Asp)
3g.69951877C>TCA353561655MITFc.880C>T (p.His294Tyr)
c.877C>T (p.His293Tyr)
n.1102C>T
c.853C>T (p.His285Tyr)
c.946C>T (p.His316Tyr)
c.625C>T (p.His209Tyr)
c.925C>T (p.His309Tyr)
c.928C>T (p.His310Tyr)
c.607C>T (p.His203Tyr)
c.898C>T (p.His300Tyr)
c.772C>T (p.His258Tyr)
c.*272C>T (n.*272C>T)
c.439C>T (p.His147Tyr)
c.790C>T (p.His264Tyr)
c.943C>T (p.His315Tyr)
c.895C>T (p.His299Tyr)
c.778C>T (p.His260Tyr)
c.760C>T (p.His254Tyr)
3g.69951878A=CA1373443575MITFc.881A= (p.His294=)
c.878A= (p.His293=)
n.1103A=
c.854A= (p.His285=)
c.947A= (p.His316=)
c.626A= (p.His209=)
c.926A= (p.His309=)
c.929A= (p.His310=)
c.608A= (p.His203=)
c.899A= (p.His300=)
c.773A= (p.His258=)
c.*273A= (n.*273A=)
c.440A= (p.His147=)
c.791A= (p.His264=)
c.944A= (p.His315=)
c.896A= (p.His299=)
c.779A= (p.His260=)
c.761A= (p.His254=)
3g.69951878A>CCA353561657MITFc.881A>C (p.His294Pro)
c.878A>C (p.His293Pro)
n.1103A>C
c.854A>C (p.His285Pro)
c.947A>C (p.His316Pro)
c.626A>C (p.His209Pro)
c.926A>C (p.His309Pro)
c.929A>C (p.His310Pro)
c.608A>C (p.His203Pro)
c.899A>C (p.His300Pro)
c.773A>C (p.His258Pro)
c.*273A>C (n.*273A>C)
c.440A>C (p.His147Pro)
c.791A>C (p.His264Pro)
c.944A>C (p.His315Pro)
c.896A>C (p.His299Pro)
c.779A>C (p.His260Pro)
c.761A>C (p.His254Pro)
3g.69951878A>GCA353561659MITFc.881A>G (p.His294Arg)
c.878A>G (p.His293Arg)
n.1103A>G
c.854A>G (p.His285Arg)
c.947A>G (p.His316Arg)
c.626A>G (p.His209Arg)
c.926A>G (p.His309Arg)
c.929A>G (p.His310Arg)
c.608A>G (p.His203Arg)
c.899A>G (p.His300Arg)
c.773A>G (p.His258Arg)
c.*273A>G (n.*273A>G)
c.440A>G (p.His147Arg)
c.791A>G (p.His264Arg)
c.944A>G (p.His315Arg)
c.896A>G (p.His299Arg)
c.779A>G (p.His260Arg)
c.761A>G (p.His254Arg)
 ClinVar dbSNP
3g.69951878A>TCA353561658MITFc.881A>T (p.His294Leu)
c.878A>T (p.His293Leu)
n.1103A>T
c.854A>T (p.His285Leu)
c.947A>T (p.His316Leu)
c.626A>T (p.His209Leu)
c.926A>T (p.His309Leu)
c.929A>T (p.His310Leu)
c.608A>T (p.His203Leu)
c.899A>T (p.His300Leu)
c.773A>T (p.His258Leu)
c.*273A>T (n.*273A>T)
c.440A>T (p.His147Leu)
c.791A>T (p.His264Leu)
c.944A>T (p.His315Leu)
c.896A>T (p.His299Leu)
c.779A>T (p.His260Leu)
c.761A>T (p.His254Leu)
3g.69951879C>ACA353561660MITFc.882C>A (p.His294Gln)
c.879C>A (p.His293Gln)
n.1104C>A
c.855C>A (p.His285Gln)
c.948C>A (p.His316Gln)
c.627C>A (p.His209Gln)
c.927C>A (p.His309Gln)
c.930C>A (p.His310Gln)
c.609C>A (p.His203Gln)
c.900C>A (p.His300Gln)
c.774C>A (p.His258Gln)
c.*274C>A (n.*274C>A)
c.441C>A (p.His147Gln)
c.792C>A (p.His264Gln)
c.945C>A (p.His315Gln)
c.897C>A (p.His299Gln)
c.780C>A (p.His260Gln)
c.762C>A (p.His254Gln)
3g.69951879C>GCA353561661MITFc.882C>G (p.His294Gln)
c.879C>G (p.His293Gln)
n.1104C>G
c.855C>G (p.His285Gln)
c.948C>G (p.His316Gln)
c.627C>G (p.His209Gln)
c.927C>G (p.His309Gln)
c.930C>G (p.His310Gln)
c.609C>G (p.His203Gln)
c.900C>G (p.His300Gln)
c.774C>G (p.His258Gln)
c.*274C>G (n.*274C>G)
c.441C>G (p.His147Gln)
c.792C>G (p.His264Gln)
c.945C>G (p.His315Gln)
c.897C>G (p.His299Gln)
c.780C>G (p.His260Gln)
c.762C>G (p.His254Gln)
 ClinVar
3g.69951879C>TCA434306299MITFc.882C>T (p.His294=)
c.879C>T (p.His293=)
n.1104C>T
c.855C>T (p.His285=)
c.948C>T (p.His316=)
c.627C>T (p.His209=)
c.927C>T (p.His309=)
c.930C>T (p.His310=)
c.609C>T (p.His203=)
c.900C>T (p.His300=)
c.774C>T (p.His258=)
c.*274C>T (n.*274C>T)
c.441C>T (p.His147=)
c.792C>T (p.His264=)
c.945C>T (p.His315=)
c.897C>T (p.His299=)
c.780C>T (p.His260=)
c.762C>T (p.His254=)
3g.69951880A>CCA353561662MITFc.883A>C (p.Asn295His)
c.880A>C (p.Asn294His)
n.1105A>C
c.856A>C (p.Asn286His)
c.949A>C (p.Asn317His)
c.628A>C (p.Asn210His)
c.928A>C (p.Asn310His)
c.931A>C (p.Asn311His)
c.610A>C (p.Asn204His)
c.901A>C (p.Asn301His)
c.775A>C (p.Asn259His)
c.*275A>C (n.*275A>C)
c.442A>C (p.Asn148His)
c.793A>C (p.Asn265His)
c.946A>C (p.Asn316His)
c.898A>C (p.Asn300His)
c.781A>C (p.Asn261His)
c.763A>C (p.Asn255His)
3g.69951880A>GCA353561663MITFc.883A>G (p.Asn295Asp)
c.880A>G (p.Asn294Asp)
n.1105A>G
c.856A>G (p.Asn286Asp)
c.949A>G (p.Asn317Asp)
c.628A>G (p.Asn210Asp)
c.928A>G (p.Asn310Asp)
c.931A>G (p.Asn311Asp)
c.610A>G (p.Asn204Asp)
c.901A>G (p.Asn301Asp)
c.775A>G (p.Asn259Asp)
c.*275A>G (n.*275A>G)
c.442A>G (p.Asn148Asp)
c.793A>G (p.Asn265Asp)
c.946A>G (p.Asn316Asp)
c.898A>G (p.Asn300Asp)
c.781A>G (p.Asn261Asp)
c.763A>G (p.Asn255Asp)
3g.69951880A>TCA353561664MITFc.883A>T (p.Asn295Tyr)
c.880A>T (p.Asn294Tyr)
n.1105A>T
c.856A>T (p.Asn286Tyr)
c.949A>T (p.Asn317Tyr)
c.628A>T (p.Asn210Tyr)
c.928A>T (p.Asn310Tyr)
c.931A>T (p.Asn311Tyr)
c.610A>T (p.Asn204Tyr)
c.901A>T (p.Asn301Tyr)
c.775A>T (p.Asn259Tyr)
c.*275A>T (n.*275A>T)
c.442A>T (p.Asn148Tyr)
c.793A>T (p.Asn265Tyr)
c.946A>T (p.Asn316Tyr)
c.898A>T (p.Asn300Tyr)
c.781A>T (p.Asn261Tyr)
c.763A>T (p.Asn255Tyr)
3g.69951881A=CA1373443578MITFc.884A= (p.Asn295=)
c.881A= (p.Asn294=)
n.1106A=
c.857A= (p.Asn286=)
c.950A= (p.Asn317=)
c.629A= (p.Asn210=)
c.929A= (p.Asn310=)
c.932A= (p.Asn311=)
c.611A= (p.Asn204=)
c.902A= (p.Asn301=)
c.776A= (p.Asn259=)
c.*276A= (n.*276A=)
c.443A= (p.Asn148=)
c.794A= (p.Asn265=)
c.947A= (p.Asn316=)
c.899A= (p.Asn300=)
c.782A= (p.Asn261=)
c.764A= (p.Asn255=)
3g.69951881A>CCA353561665MITFc.884A>C (p.Asn295Thr)
c.881A>C (p.Asn294Thr)
n.1106A>C
c.857A>C (p.Asn286Thr)
c.950A>C (p.Asn317Thr)
c.629A>C (p.Asn210Thr)
c.929A>C (p.Asn310Thr)
c.932A>C (p.Asn311Thr)
c.611A>C (p.Asn204Thr)
c.902A>C (p.Asn301Thr)
c.776A>C (p.Asn259Thr)
c.*276A>C (n.*276A>C)
c.443A>C (p.Asn148Thr)
c.794A>C (p.Asn265Thr)
c.947A>C (p.Asn316Thr)
c.899A>C (p.Asn300Thr)
c.782A>C (p.Asn261Thr)
c.764A>C (p.Asn255Thr)
3g.69951881A>GCA353561666MITFc.884A>G (p.Asn295Ser)
c.881A>G (p.Asn294Ser)
n.1106A>G
c.857A>G (p.Asn286Ser)
c.950A>G (p.Asn317Ser)
c.629A>G (p.Asn210Ser)
c.929A>G (p.Asn310Ser)
c.932A>G (p.Asn311Ser)
c.611A>G (p.Asn204Ser)
c.902A>G (p.Asn301Ser)
c.776A>G (p.Asn259Ser)
c.*276A>G (n.*276A>G)
c.443A>G (p.Asn148Ser)
c.794A>G (p.Asn265Ser)
c.947A>G (p.Asn316Ser)
c.899A>G (p.Asn300Ser)
c.782A>G (p.Asn261Ser)
c.764A>G (p.Asn255Ser)
 ClinVar dbSNP
3g.69951881A>TCA353561667MITFc.884A>T (p.Asn295Ile)
c.881A>T (p.Asn294Ile)
n.1106A>T
c.857A>T (p.Asn286Ile)
c.950A>T (p.Asn317Ile)
c.629A>T (p.Asn210Ile)
c.929A>T (p.Asn310Ile)
c.932A>T (p.Asn311Ile)
c.611A>T (p.Asn204Ile)
c.902A>T (p.Asn301Ile)
c.776A>T (p.Asn259Ile)
c.*276A>T (n.*276A>T)
c.443A>T (p.Asn148Ile)
c.794A>T (p.Asn265Ile)
c.947A>T (p.Asn316Ile)
c.899A>T (p.Asn300Ile)
c.782A>T (p.Asn261Ile)
c.764A>T (p.Asn255Ile)
3g.69951882C>ACA353561668MITFc.885C>A (p.Asn295Lys)
c.882C>A (p.Asn294Lys)
n.1107C>A
c.858C>A (p.Asn286Lys)
c.951C>A (p.Asn317Lys)
c.630C>A (p.Asn210Lys)
c.930C>A (p.Asn310Lys)
c.933C>A (p.Asn311Lys)
c.612C>A (p.Asn204Lys)
c.903C>A (p.Asn301Lys)
c.777C>A (p.Asn259Lys)
c.*277C>A (n.*277C>A)
c.444C>A (p.Asn148Lys)
c.795C>A (p.Asn265Lys)
c.948C>A (p.Asn316Lys)
c.900C>A (p.Asn300Lys)
c.783C>A (p.Asn261Lys)
c.765C>A (p.Asn255Lys)
 gnomAD v4
3g.69951882C=CA1373443584MITFc.885C= (p.Asn295=)
c.882C= (p.Asn294=)
n.1107C=
c.858C= (p.Asn286=)
c.951C= (p.Asn317=)
c.630C= (p.Asn210=)
c.930C= (p.Asn310=)
c.933C= (p.Asn311=)
c.612C= (p.Asn204=)
c.903C= (p.Asn301=)
c.777C= (p.Asn259=)
c.*277C= (n.*277C=)
c.444C= (p.Asn148=)
c.795C= (p.Asn265=)
c.948C= (p.Asn316=)
c.900C= (p.Asn300=)
c.783C= (p.Asn261=)
c.765C= (p.Asn255=)
3g.69951882C>GCA213179MITFc.885C>G (p.Asn295Lys)
c.882C>G (p.Asn294Lys)
n.1107C>G
c.858C>G (p.Asn286Lys)
c.951C>G (p.Asn317Lys)
c.630C>G (p.Asn210Lys)
c.930C>G (p.Asn310Lys)
c.933C>G (p.Asn311Lys)
c.612C>G (p.Asn204Lys)
c.903C>G (p.Asn301Lys)
c.777C>G (p.Asn259Lys)
c.*277C>G (n.*277C>G)
c.444C>G (p.Asn148Lys)
c.795C>G (p.Asn265Lys)
c.948C>G (p.Asn316Lys)
c.900C>G (p.Asn300Lys)
c.783C>G (p.Asn261Lys)
c.765C>G (p.Asn255Lys)
 ClinVar dbSNP
3g.69951882C>TCA434306300MITFc.885C>T (p.Asn295=)
c.882C>T (p.Asn294=)
n.1107C>T
c.858C>T (p.Asn286=)
c.951C>T (p.Asn317=)
c.630C>T (p.Asn210=)
c.930C>T (p.Asn310=)
c.933C>T (p.Asn311=)
c.612C>T (p.Asn204=)
c.903C>T (p.Asn301=)
c.777C>T (p.Asn259=)
c.*277C>T (n.*277C>T)
c.444C>T (p.Asn148=)
c.795C>T (p.Asn265=)
c.948C>T (p.Asn316=)
c.900C>T (p.Asn300=)
c.783C>T (p.Asn261=)
c.765C>T (p.Asn255=)
 dbSNP
3g.69951883C>ACA353561669MITFc.886C>A (p.Leu296Met)
c.883C>A (p.Leu295Met)
n.1108C>A
c.859C>A (p.Leu287Met)
c.952C>A (p.Leu318Met)
c.631C>A (p.Leu211Met)
c.931C>A (p.Leu311Met)
c.934C>A (p.Leu312Met)
c.613C>A (p.Leu205Met)
c.904C>A (p.Leu302Met)
c.778C>A (p.Leu260Met)
c.*278C>A (n.*278C>A)
c.445C>A (p.Leu149Met)
c.796C>A (p.Leu266Met)
c.949C>A (p.Leu317Met)
c.901C>A (p.Leu301Met)
c.784C>A (p.Leu262Met)
c.766C>A (p.Leu256Met)
3g.69951883C>GCA353561670MITFc.886C>G (p.Leu296Val)
c.883C>G (p.Leu295Val)
n.1108C>G
c.859C>G (p.Leu287Val)
c.952C>G (p.Leu318Val)
c.631C>G (p.Leu211Val)
c.931C>G (p.Leu311Val)
c.934C>G (p.Leu312Val)
c.613C>G (p.Leu205Val)
c.904C>G (p.Leu302Val)
c.778C>G (p.Leu260Val)
c.*278C>G (n.*278C>G)
c.445C>G (p.Leu149Val)
c.796C>G (p.Leu266Val)
c.949C>G (p.Leu317Val)
c.901C>G (p.Leu301Val)
c.784C>G (p.Leu262Val)
c.766C>G (p.Leu256Val)
3g.69951883C>TCA434306301MITFc.886C>T (p.Leu296=)
c.883C>T (p.Leu295=)
n.1108C>T
c.859C>T (p.Leu287=)
c.952C>T (p.Leu318=)
c.631C>T (p.Leu211=)
c.931C>T (p.Leu311=)
c.934C>T (p.Leu312=)
c.613C>T (p.Leu205=)
c.904C>T (p.Leu302=)
c.778C>T (p.Leu260=)
c.*278C>T (n.*278C>T)
c.445C>T (p.Leu149=)
c.796C>T (p.Leu266=)
c.949C>T (p.Leu317=)
c.901C>T (p.Leu301=)
c.784C>T (p.Leu262=)
c.766C>T (p.Leu256=)
3g.69951884T>ACA353561673MITFc.887T>A (p.Leu296Gln)
c.884T>A (p.Leu295Gln)
n.1109T>A
c.860T>A (p.Leu287Gln)
c.953T>A (p.Leu318Gln)
c.632T>A (p.Leu211Gln)
c.932T>A (p.Leu311Gln)
c.935T>A (p.Leu312Gln)
c.614T>A (p.Leu205Gln)
c.905T>A (p.Leu302Gln)
c.779T>A (p.Leu260Gln)
c.*279T>A (n.*279T>A)
c.446T>A (p.Leu149Gln)
c.797T>A (p.Leu266Gln)
c.950T>A (p.Leu317Gln)
c.902T>A (p.Leu301Gln)
c.785T>A (p.Leu262Gln)
c.767T>A (p.Leu256Gln)
3g.69951884T>CCA353561671MITFc.887T>C (p.Leu296Pro)
c.884T>C (p.Leu295Pro)
n.1109T>C
c.860T>C (p.Leu287Pro)
c.953T>C (p.Leu318Pro)
c.632T>C (p.Leu211Pro)
c.932T>C (p.Leu311Pro)
c.935T>C (p.Leu312Pro)
c.614T>C (p.Leu205Pro)
c.905T>C (p.Leu302Pro)
c.779T>C (p.Leu260Pro)
c.*279T>C (n.*279T>C)
c.446T>C (p.Leu149Pro)
c.797T>C (p.Leu266Pro)
c.950T>C (p.Leu317Pro)
c.902T>C (p.Leu301Pro)
c.785T>C (p.Leu262Pro)
c.767T>C (p.Leu256Pro)
 ClinVar dbSNP
3g.69951884T>GCA353561672MITFc.887T>G (p.Leu296Arg)
c.884T>G (p.Leu295Arg)
n.1109T>G
c.860T>G (p.Leu287Arg)
c.953T>G (p.Leu318Arg)
c.632T>G (p.Leu211Arg)
c.932T>G (p.Leu311Arg)
c.935T>G (p.Leu312Arg)
c.614T>G (p.Leu205Arg)
c.905T>G (p.Leu302Arg)
c.779T>G (p.Leu260Arg)
c.*279T>G (n.*279T>G)
c.446T>G (p.Leu149Arg)
c.797T>G (p.Leu266Arg)
c.950T>G (p.Leu317Arg)
c.902T>G (p.Leu301Arg)
c.785T>G (p.Leu262Arg)
c.767T>G (p.Leu256Arg)
3g.69951884T=CA1373443590MITFc.887T= (p.Leu296=)
c.884T= (p.Leu295=)
n.1109T=
c.860T= (p.Leu287=)
c.953T= (p.Leu318=)
c.632T= (p.Leu211=)
c.932T= (p.Leu311=)
c.935T= (p.Leu312=)
c.614T= (p.Leu205=)
c.905T= (p.Leu302=)
c.779T= (p.Leu260=)
c.*279T= (n.*279T=)
c.446T= (p.Leu149=)
c.797T= (p.Leu266=)
c.950T= (p.Leu317=)
c.902T= (p.Leu301=)
c.785T= (p.Leu262=)
c.767T= (p.Leu256=)
3g.69951884_69951889delCA2580070406MITFc.887_889+3del
c.884_886+3del
n.1109_1111+3del
c.860_862+3del
c.953_955+3del
c.632_634+3del
c.932_934+3del
c.935_937+3del
c.614_616+3del
c.905_907+3del
c.779_781+3del
c.*279_*281+3del
c.446_448+3del
c.797_799+3del
c.950_952+3del
c.902_904+3del
c.785_787+3del
c.767_769+3del
 ClinVar
3g.69951885G>ACA434306303MITFc.888G>A (p.Leu296=)
c.885G>A (p.Leu295=)
n.1110G>A
c.861G>A (p.Leu287=)
c.954G>A (p.Leu318=)
c.633G>A (p.Leu211=)
c.933G>A (p.Leu311=)
c.936G>A (p.Leu312=)
c.615G>A (p.Leu205=)
c.906G>A (p.Leu302=)
c.780G>A (p.Leu260=)
c.*280G>A (n.*280G>A)
c.447G>A (p.Leu149=)
c.798G>A (p.Leu266=)
c.951G>A (p.Leu317=)
c.903G>A (p.Leu301=)
c.786G>A (p.Leu262=)
c.768G>A (p.Leu256=)
 dbSNP gnomAD v2 gnomAD v4
3g.69951885G>CCA434306304MITFc.888G>C (p.Leu296=)
c.885G>C (p.Leu295=)
n.1110G>C
c.861G>C (p.Leu287=)
c.954G>C (p.Leu318=)
c.633G>C (p.Leu211=)
c.933G>C (p.Leu311=)
c.936G>C (p.Leu312=)
c.615G>C (p.Leu205=)
c.906G>C (p.Leu302=)
c.780G>C (p.Leu260=)
c.*280G>C (n.*280G>C)
c.447G>C (p.Leu149=)
c.798G>C (p.Leu266=)
c.951G>C (p.Leu317=)
c.903G>C (p.Leu301=)
c.786G>C (p.Leu262=)
c.768G>C (p.Leu256=)
3g.69951885G=CA1373443594MITFc.888G= (p.Leu296=)
c.885G= (p.Leu295=)
n.1110G=
c.861G= (p.Leu287=)
c.954G= (p.Leu318=)
c.633G= (p.Leu211=)
c.933G= (p.Leu311=)
c.936G= (p.Leu312=)
c.615G= (p.Leu205=)
c.906G= (p.Leu302=)
c.780G= (p.Leu260=)
c.*280G= (n.*280G=)
c.447G= (p.Leu149=)
c.798G= (p.Leu266=)
c.951G= (p.Leu317=)
c.903G= (p.Leu301=)
c.786G= (p.Leu262=)
c.768G= (p.Leu256=)
3g.69951885G>TCA434306302MITFc.888G>T (p.Leu296=)
c.885G>T (p.Leu295=)
n.1110G>T
c.861G>T (p.Leu287=)
c.954G>T (p.Leu318=)
c.633G>T (p.Leu211=)
c.933G>T (p.Leu311=)
c.936G>T (p.Leu312=)
c.615G>T (p.Leu205=)
c.906G>T (p.Leu302=)
c.780G>T (p.Leu260=)
c.*280G>T (n.*280G>T)
c.447G>T (p.Leu149=)
c.798G>T (p.Leu266=)
c.951G>T (p.Leu317=)
c.903G>T (p.Leu301=)
c.786G>T (p.Leu262=)
c.768G>T (p.Leu256=)
 dbSNP gnomAD v2 gnomAD v4
3g.69951886A>CCA353561674MITFc.889A>C (p.Ile297Leu)
c.886A>C (p.Ile296Leu)
n.1111A>C
c.862A>C (p.Ile288Leu)
c.955A>C (p.Ile319Leu)
c.634A>C (p.Ile212Leu)
c.934A>C (p.Ile312Leu)
c.937A>C (p.Ile313Leu)
c.616A>C (p.Ile206Leu)
c.907A>C (p.Ile303Leu)
c.781A>C (p.Ile261Leu)
c.*281A>C (n.*281A>C)
c.448A>C (p.Ile150Leu)
c.799A>C (p.Ile267Leu)
c.952A>C (p.Ile318Leu)
c.904A>C (p.Ile302Leu)
c.787A>C (p.Ile263Leu)
c.769A>C (p.Ile257Leu)
 dbSNP gnomAD v4
3g.69951886A>GCA353561675MITFc.889A>G (p.Ile297Val)
c.886A>G (p.Ile296Val)
n.1111A>G
c.862A>G (p.Ile288Val)
c.955A>G (p.Ile319Val)
c.634A>G (p.Ile212Val)
c.934A>G (p.Ile312Val)
c.937A>G (p.Ile313Val)
c.616A>G (p.Ile206Val)
c.907A>G (p.Ile303Val)
c.781A>G (p.Ile261Val)
c.*281A>G (n.*281A>G)
c.448A>G (p.Ile150Val)
c.799A>G (p.Ile267Val)
c.952A>G (p.Ile318Val)
c.904A>G (p.Ile302Val)
c.787A>G (p.Ile263Val)
c.769A>G (p.Ile257Val)
3g.69951886A>TCA353561676MITFc.889A>T (p.Ile297Phe)
c.886A>T (p.Ile296Phe)
n.1111A>T
c.862A>T (p.Ile288Phe)
c.955A>T (p.Ile319Phe)
c.634A>T (p.Ile212Phe)
c.934A>T (p.Ile312Phe)
c.937A>T (p.Ile313Phe)
c.616A>T (p.Ile206Phe)
c.907A>T (p.Ile303Phe)
c.781A>T (p.Ile261Phe)
c.*281A>T (n.*281A>T)
c.448A>T (p.Ile150Phe)
c.799A>T (p.Ile267Phe)
c.952A>T (p.Ile318Phe)
c.904A>T (p.Ile302Phe)
c.787A>T (p.Ile263Phe)
c.769A>T (p.Ile257Phe)
3g.69951887G>ACA353561677MITFc.889+1G>A (n.889+1G>A)
c.886+1G>A (n.886+1G>A)
n.1111+1G>A
c.862+1G>A (n.862+1G>A)
c.955+1G>A (n.955+1G>A)
c.634+1G>A (n.634+1G>A)
c.934+1G>A (n.934+1G>A)
c.937+1G>A (n.937+1G>A)
c.616+1G>A (n.616+1G>A)
c.907+1G>A (n.907+1G>A)
c.781+1G>A (n.781+1G>A)
c.*281+1G>A (n.*281+1G>A)
c.448+1G>A (n.448+1G>A)
c.799+1G>A (n.799+1G>A)
c.952+1G>A (n.952+1G>A)
c.904+1G>A (n.904+1G>A)
c.787+1G>A (n.787+1G>A)
c.769+1G>A (n.769+1G>A)
3g.69951887G>CCA353561678MITFc.889+1G>C (n.889+1G>C)
c.886+1G>C (n.886+1G>C)
n.1111+1G>C
c.862+1G>C (n.862+1G>C)
c.955+1G>C (n.955+1G>C)
c.634+1G>C (n.634+1G>C)
c.934+1G>C (n.934+1G>C)
c.937+1G>C (n.937+1G>C)
c.616+1G>C (n.616+1G>C)
c.907+1G>C (n.907+1G>C)
c.781+1G>C (n.781+1G>C)
c.*281+1G>C (n.*281+1G>C)
c.448+1G>C (n.448+1G>C)
c.799+1G>C (n.799+1G>C)
c.952+1G>C (n.952+1G>C)
c.904+1G>C (n.904+1G>C)
c.787+1G>C (n.787+1G>C)
c.769+1G>C (n.769+1G>C)
 ClinVar dbSNP
3g.69951887G>TCA353561679MITFc.889+1G>T (n.889+1G>T)
c.886+1G>T (n.886+1G>T)
n.1111+1G>T
c.862+1G>T (n.862+1G>T)
c.955+1G>T (n.955+1G>T)
c.634+1G>T (n.634+1G>T)
c.934+1G>T (n.934+1G>T)
c.937+1G>T (n.937+1G>T)
c.616+1G>T (n.616+1G>T)
c.907+1G>T (n.907+1G>T)
c.781+1G>T (n.781+1G>T)
c.*281+1G>T (n.*281+1G>T)
c.448+1G>T (n.448+1G>T)
c.799+1G>T (n.799+1G>T)
c.952+1G>T (n.952+1G>T)
c.904+1G>T (n.904+1G>T)
c.787+1G>T (n.787+1G>T)
c.769+1G>T (n.769+1G>T)
 ClinVar dbSNP
3g.69951888T>ACA353561680MITFc.889+2T>A (n.889+2T>A)
c.886+2T>A (n.886+2T>A)
n.1111+2T>A
c.862+2T>A (n.862+2T>A)
c.955+2T>A (n.955+2T>A)
c.634+2T>A (n.634+2T>A)
c.934+2T>A (n.934+2T>A)
c.937+2T>A (n.937+2T>A)
c.616+2T>A (n.616+2T>A)
c.907+2T>A (n.907+2T>A)
c.781+2T>A (n.781+2T>A)
c.*281+2T>A (n.*281+2T>A)
c.448+2T>A (n.448+2T>A)
c.799+2T>A (n.799+2T>A)
c.952+2T>A (n.952+2T>A)
c.904+2T>A (n.904+2T>A)
c.787+2T>A (n.787+2T>A)
c.769+2T>A (n.769+2T>A)
3g.69951888T>CCA353561681MITFc.889+2T>C (n.889+2T>C)
c.886+2T>C (n.886+2T>C)
n.1111+2T>C
c.862+2T>C (n.862+2T>C)
c.955+2T>C (n.955+2T>C)
c.634+2T>C (n.634+2T>C)
c.934+2T>C (n.934+2T>C)
c.937+2T>C (n.937+2T>C)
c.616+2T>C (n.616+2T>C)
c.907+2T>C (n.907+2T>C)
c.781+2T>C (n.781+2T>C)
c.*281+2T>C (n.*281+2T>C)
c.448+2T>C (n.448+2T>C)
c.799+2T>C (n.799+2T>C)
c.952+2T>C (n.952+2T>C)
c.904+2T>C (n.904+2T>C)
c.787+2T>C (n.787+2T>C)
c.769+2T>C (n.769+2T>C)
3g.69951888T>GCA353561682MITFc.889+2T>G (n.889+2T>G)
c.886+2T>G (n.886+2T>G)
n.1111+2T>G
c.862+2T>G (n.862+2T>G)
c.955+2T>G (n.955+2T>G)
c.634+2T>G (n.634+2T>G)
c.934+2T>G (n.934+2T>G)
c.937+2T>G (n.937+2T>G)
c.616+2T>G (n.616+2T>G)
c.907+2T>G (n.907+2T>G)
c.781+2T>G (n.781+2T>G)
c.*281+2T>G (n.*281+2T>G)
c.448+2T>G (n.448+2T>G)
c.799+2T>G (n.799+2T>G)
c.952+2T>G (n.952+2T>G)
c.904+2T>G (n.904+2T>G)
c.787+2T>G (n.787+2T>G)
c.769+2T>G (n.769+2T>G)
 COSMIC COSMIC COSMIC COSMIC
3g.69951889A>TCA2740094495MITFc.889+3A>T (n.889+3A>T)
c.886+3A>T (n.886+3A>T)
n.1111+3A>T
c.862+3A>T (n.862+3A>T)
c.955+3A>T (n.955+3A>T)
c.634+3A>T (n.634+3A>T)
c.934+3A>T (n.934+3A>T)
c.937+3A>T (n.937+3A>T)
c.616+3A>T (n.616+3A>T)
c.907+3A>T (n.907+3A>T)
c.781+3A>T (n.781+3A>T)
c.*281+3A>T (n.*281+3A>T)
c.448+3A>T (n.448+3A>T)
c.799+3A>T (n.799+3A>T)
c.952+3A>T (n.952+3A>T)
c.904+3A>T (n.904+3A>T)
c.787+3A>T (n.787+3A>T)
c.769+3A>T (n.769+3A>T)
 ClinVar
3g.69951892T>CCA909840925MITFc.889+6T>C (n.889+6T>C)
c.886+6T>C (n.886+6T>C)
n.1111+6T>C
c.862+6T>C (n.862+6T>C)
c.955+6T>C (n.955+6T>C)
c.634+6T>C (n.634+6T>C)
c.934+6T>C (n.934+6T>C)
c.937+6T>C (n.937+6T>C)
c.616+6T>C (n.616+6T>C)
c.907+6T>C (n.907+6T>C)
c.781+6T>C (n.781+6T>C)
c.*281+6T>C (n.*281+6T>C)
c.448+6T>C (n.448+6T>C)
c.799+6T>C (n.799+6T>C)
c.952+6T>C (n.952+6T>C)
c.904+6T>C (n.904+6T>C)
c.787+6T>C (n.787+6T>C)
c.769+6T>C (n.769+6T>C)
 dbSNP gnomAD v3 gnomAD v4
3g.69951892T=CA1373443597MITFc.889+6T= (n.889+6T=)
c.886+6T= (n.886+6T=)
n.1111+6T=
c.862+6T= (n.862+6T=)
c.955+6T= (n.955+6T=)
c.634+6T= (n.634+6T=)
c.934+6T= (n.934+6T=)
c.937+6T= (n.937+6T=)
c.616+6T= (n.616+6T=)
c.907+6T= (n.907+6T=)
c.781+6T= (n.781+6T=)
c.*281+6T= (n.*281+6T=)
c.448+6T= (n.448+6T=)
c.799+6T= (n.799+6T=)
c.952+6T= (n.952+6T=)
c.904+6T= (n.904+6T=)
c.787+6T= (n.787+6T=)
c.769+6T= (n.769+6T=)
3g.69951893T>CCA2577819626MITFc.889+7T>C (n.889+7T>C)
c.886+7T>C (n.886+7T>C)
n.1111+7T>C
c.862+7T>C (n.862+7T>C)
c.955+7T>C (n.955+7T>C)
c.634+7T>C (n.634+7T>C)
c.934+7T>C (n.934+7T>C)
c.937+7T>C (n.937+7T>C)
c.616+7T>C (n.616+7T>C)
c.907+7T>C (n.907+7T>C)
c.781+7T>C (n.781+7T>C)
c.*281+7T>C (n.*281+7T>C)
c.448+7T>C (n.448+7T>C)
c.799+7T>C (n.799+7T>C)
c.952+7T>C (n.952+7T>C)
c.904+7T>C (n.904+7T>C)
c.787+7T>C (n.787+7T>C)
c.769+7T>C (n.769+7T>C)
3g.69951893T>GCA2577819627MITFc.889+7T>G (n.889+7T>G)
c.886+7T>G (n.886+7T>G)
n.1111+7T>G
c.862+7T>G (n.862+7T>G)
c.955+7T>G (n.955+7T>G)
c.634+7T>G (n.634+7T>G)
c.934+7T>G (n.934+7T>G)
c.937+7T>G (n.937+7T>G)
c.616+7T>G (n.616+7T>G)
c.907+7T>G (n.907+7T>G)
c.781+7T>G (n.781+7T>G)
c.*281+7T>G (n.*281+7T>G)
c.448+7T>G (n.448+7T>G)
c.799+7T>G (n.799+7T>G)
c.952+7T>G (n.952+7T>G)
c.904+7T>G (n.904+7T>G)
c.787+7T>G (n.787+7T>G)
c.769+7T>G (n.769+7T>G)
 ClinVar
3g.69951894G>ACA2577819628MITFc.889+8G>A (n.889+8G>A)
c.886+8G>A (n.886+8G>A)
n.1111+8G>A
c.862+8G>A (n.862+8G>A)
c.955+8G>A (n.955+8G>A)
c.634+8G>A (n.634+8G>A)
c.934+8G>A (n.934+8G>A)
c.937+8G>A (n.937+8G>A)
c.616+8G>A (n.616+8G>A)
c.907+8G>A (n.907+8G>A)
c.781+8G>A (n.781+8G>A)
c.*281+8G>A (n.*281+8G>A)
c.448+8G>A (n.448+8G>A)
c.799+8G>A (n.799+8G>A)
c.952+8G>A (n.952+8G>A)
c.904+8G>A (n.904+8G>A)
c.787+8G>A (n.787+8G>A)
c.769+8G>A (n.769+8G>A)
 gnomAD v4
3g.69951894G>TCA2703189625MITFc.889+8G>T (n.889+8G>T)
c.886+8G>T (n.886+8G>T)
n.1111+8G>T
c.862+8G>T (n.862+8G>T)
c.955+8G>T (n.955+8G>T)
c.634+8G>T (n.634+8G>T)
c.934+8G>T (n.934+8G>T)
c.937+8G>T (n.937+8G>T)
c.616+8G>T (n.616+8G>T)
c.907+8G>T (n.907+8G>T)
c.781+8G>T (n.781+8G>T)
c.*281+8G>T (n.*281+8G>T)
c.448+8G>T (n.448+8G>T)
c.799+8G>T (n.799+8G>T)
c.952+8G>T (n.952+8G>T)
c.904+8G>T (n.904+8G>T)
c.787+8G>T (n.787+8G>T)
c.769+8G>T (n.769+8G>T)
 dbSNP
3g.69951895G>CCA1049248335MITFc.889+9G>C (n.889+9G>C)
c.886+9G>C (n.886+9G>C)
n.1111+9G>C
c.862+9G>C (n.862+9G>C)
c.955+9G>C (n.955+9G>C)
c.634+9G>C (n.634+9G>C)
c.934+9G>C (n.934+9G>C)
c.937+9G>C (n.937+9G>C)
c.616+9G>C (n.616+9G>C)
c.907+9G>C (n.907+9G>C)
c.781+9G>C (n.781+9G>C)
c.*281+9G>C (n.*281+9G>C)
c.448+9G>C (n.448+9G>C)
c.799+9G>C (n.799+9G>C)
c.952+9G>C (n.952+9G>C)
c.904+9G>C (n.904+9G>C)
c.787+9G>C (n.787+9G>C)
c.769+9G>C (n.769+9G>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.69951895G=CA1373443600MITFc.889+9G= (n.889+9G=)
c.886+9G= (n.886+9G=)
n.1111+9G=
c.862+9G= (n.862+9G=)
c.955+9G= (n.955+9G=)
c.634+9G= (n.634+9G=)
c.934+9G= (n.934+9G=)
c.937+9G= (n.937+9G=)
c.616+9G= (n.616+9G=)
c.907+9G= (n.907+9G=)
c.781+9G= (n.781+9G=)
c.*281+9G= (n.*281+9G=)
c.448+9G= (n.448+9G=)
c.799+9G= (n.799+9G=)
c.952+9G= (n.952+9G=)
c.904+9G= (n.904+9G=)
c.787+9G= (n.787+9G=)
c.769+9G= (n.769+9G=)
3g.69951896T>ACA2577819629MITFc.889+10T>A (n.889+10T>A)
c.886+10T>A (n.886+10T>A)
n.1111+10T>A
c.862+10T>A (n.862+10T>A)
c.955+10T>A (n.955+10T>A)
c.634+10T>A (n.634+10T>A)
c.934+10T>A (n.934+10T>A)
c.937+10T>A (n.937+10T>A)
c.616+10T>A (n.616+10T>A)
c.907+10T>A (n.907+10T>A)
c.781+10T>A (n.781+10T>A)
c.*281+10T>A (n.*281+10T>A)
c.448+10T>A (n.448+10T>A)
c.799+10T>A (n.799+10T>A)
c.952+10T>A (n.952+10T>A)
c.904+10T>A (n.904+10T>A)
c.787+10T>A (n.787+10T>A)
c.769+10T>A (n.769+10T>A)
3g.69951897T>CCA2740094496MITFc.889+11T>C (n.889+11T>C)
c.886+11T>C (n.886+11T>C)
n.1111+11T>C
c.862+11T>C (n.862+11T>C)
c.955+11T>C (n.955+11T>C)
c.634+11T>C (n.634+11T>C)
c.934+11T>C (n.934+11T>C)
c.937+11T>C (n.937+11T>C)
c.616+11T>C (n.616+11T>C)
c.907+11T>C (n.907+11T>C)
c.781+11T>C (n.781+11T>C)
c.*281+11T>C (n.*281+11T>C)
c.448+11T>C (n.448+11T>C)
c.799+11T>C (n.799+11T>C)
c.952+11T>C (n.952+11T>C)
c.904+11T>C (n.904+11T>C)
c.787+11T>C (n.787+11T>C)
c.769+11T>C (n.769+11T>C)
 ClinVar
3g.69951898T>GCA2666480719MITFc.889+12T>G (n.889+12T>G)
c.886+12T>G (n.886+12T>G)
n.1111+12T>G
c.862+12T>G (n.862+12T>G)
c.955+12T>G (n.955+12T>G)
c.634+12T>G (n.634+12T>G)
c.934+12T>G (n.934+12T>G)
c.937+12T>G (n.937+12T>G)
c.616+12T>G (n.616+12T>G)
c.907+12T>G (n.907+12T>G)
c.781+12T>G (n.781+12T>G)
c.*281+12T>G (n.*281+12T>G)
c.448+12T>G (n.448+12T>G)
c.799+12T>G (n.799+12T>G)
c.952+12T>G (n.952+12T>G)
c.904+12T>G (n.904+12T>G)
c.787+12T>G (n.787+12T>G)
c.769+12T>G (n.769+12T>G)
 gnomAD v4
3g.69951900_69951901insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATACA2740425304MITFc.889+14_889+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA (n.889+14_889+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA)
c.886+14_886+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA (n.886+14_886+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA)
n.1111+14_1111+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA
c.862+14_862+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA (n.862+14_862+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA)
c.955+14_955+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA (n.955+14_955+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA)
c.634+14_634+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA (n.634+14_634+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA)
c.934+14_934+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA (n.934+14_934+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA)
c.937+14_937+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA (n.937+14_937+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA)
c.616+14_616+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA (n.616+14_616+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA)
c.907+14_907+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA (n.907+14_907+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA)
c.781+14_781+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA (n.781+14_781+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA)
c.*281+14_*281+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA (n.*281+14_*281+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA)
c.448+14_448+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA (n.448+14_448+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA)
c.799+14_799+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA (n.799+14_799+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA)
c.952+14_952+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA (n.952+14_952+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA)
c.904+14_904+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA (n.904+14_904+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA)
c.787+14_787+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA (n.787+14_787+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA)
c.769+14_769+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA (n.769+14_769+15insCAAGAATCACAAACATCTGTCAAAATGTGACTGAATATGGGGCCCTAAATA)
3g.69951901T>CCA2666480720MITFc.889+15T>C (n.889+15T>C)
c.886+15T>C (n.886+15T>C)
n.1111+15T>C
c.862+15T>C (n.862+15T>C)
c.955+15T>C (n.955+15T>C)
c.634+15T>C (n.634+15T>C)
c.934+15T>C (n.934+15T>C)
c.937+15T>C (n.937+15T>C)
c.616+15T>C (n.616+15T>C)
c.907+15T>C (n.907+15T>C)
c.781+15T>C (n.781+15T>C)
c.*281+15T>C (n.*281+15T>C)
c.448+15T>C (n.448+15T>C)
c.799+15T>C (n.799+15T>C)
c.952+15T>C (n.952+15T>C)
c.904+15T>C (n.904+15T>C)
c.787+15T>C (n.787+15T>C)
c.769+15T>C (n.769+15T>C)
 gnomAD v4
3g.69951902T>GCA2740425305MITFc.889+16T>G (n.889+16T>G)
c.886+16T>G (n.886+16T>G)
n.1111+16T>G
c.862+16T>G (n.862+16T>G)
c.955+16T>G (n.955+16T>G)
c.634+16T>G (n.634+16T>G)
c.934+16T>G (n.934+16T>G)
c.937+16T>G (n.937+16T>G)
c.616+16T>G (n.616+16T>G)
c.907+16T>G (n.907+16T>G)
c.781+16T>G (n.781+16T>G)
c.*281+16T>G (n.*281+16T>G)
c.448+16T>G (n.448+16T>G)
c.799+16T>G (n.799+16T>G)
c.952+16T>G (n.952+16T>G)
c.904+16T>G (n.904+16T>G)
c.787+16T>G (n.787+16T>G)
c.769+16T>G (n.769+16T>G)
3g.69951903T>GCA2666480721MITFc.889+17T>G (n.889+17T>G)
c.886+17T>G (n.886+17T>G)
n.1111+17T>G
c.862+17T>G (n.862+17T>G)
c.955+17T>G (n.955+17T>G)
c.634+17T>G (n.634+17T>G)
c.934+17T>G (n.934+17T>G)
c.937+17T>G (n.937+17T>G)
c.616+17T>G (n.616+17T>G)
c.907+17T>G (n.907+17T>G)
c.781+17T>G (n.781+17T>G)
c.*281+17T>G (n.*281+17T>G)
c.448+17T>G (n.448+17T>G)
c.799+17T>G (n.799+17T>G)
c.952+17T>G (n.952+17T>G)
c.904+17T>G (n.904+17T>G)
c.787+17T>G (n.787+17T>G)
c.769+17T>G (n.769+17T>G)
 gnomAD v4
3g.69951904A>GCA2580070407MITFc.889+18A>G (n.889+18A>G)
c.886+18A>G (n.886+18A>G)
n.1111+18A>G
c.862+18A>G (n.862+18A>G)
c.955+18A>G (n.955+18A>G)
c.634+18A>G (n.634+18A>G)
c.934+18A>G (n.934+18A>G)
c.937+18A>G (n.937+18A>G)
c.616+18A>G (n.616+18A>G)
c.907+18A>G (n.907+18A>G)
c.781+18A>G (n.781+18A>G)
c.*281+18A>G (n.*281+18A>G)
c.448+18A>G (n.448+18A>G)
c.799+18A>G (n.799+18A>G)
c.952+18A>G (n.952+18A>G)
c.904+18A>G (n.904+18A>G)
c.787+18A>G (n.787+18A>G)
c.769+18A>G (n.769+18A>G)
 ClinVar
3g.69951905T>ACA2666480722MITFc.889+19T>A (n.889+19T>A)
c.886+19T>A (n.886+19T>A)
n.1111+19T>A
c.862+19T>A (n.862+19T>A)
c.955+19T>A (n.955+19T>A)
c.634+19T>A (n.634+19T>A)
c.934+19T>A (n.934+19T>A)
c.937+19T>A (n.937+19T>A)
c.616+19T>A (n.616+19T>A)
c.907+19T>A (n.907+19T>A)
c.781+19T>A (n.781+19T>A)
c.*281+19T>A (n.*281+19T>A)
c.448+19T>A (n.448+19T>A)
c.799+19T>A (n.799+19T>A)
c.952+19T>A (n.952+19T>A)
c.904+19T>A (n.904+19T>A)
c.787+19T>A (n.787+19T>A)
c.769+19T>A (n.769+19T>A)
 gnomAD v4
3g.69951906G>ACA2577819630MITFc.889+20G>A (n.889+20G>A)
c.886+20G>A (n.886+20G>A)
n.1111+20G>A
c.862+20G>A (n.862+20G>A)
c.955+20G>A (n.955+20G>A)
c.634+20G>A (n.634+20G>A)
c.934+20G>A (n.934+20G>A)
c.937+20G>A (n.937+20G>A)
c.616+20G>A (n.616+20G>A)
c.907+20G>A (n.907+20G>A)
c.781+20G>A (n.781+20G>A)
c.*281+20G>A (n.*281+20G>A)
c.448+20G>A (n.448+20G>A)
c.799+20G>A (n.799+20G>A)
c.952+20G>A (n.952+20G>A)
c.904+20G>A (n.904+20G>A)
c.787+20G>A (n.787+20G>A)
c.769+20G>A (n.769+20G>A)
 dbSNP gnomAD v4
3g.69951907T>CCA543813372MITFc.889+21T>C (n.889+21T>C)
c.886+21T>C (n.886+21T>C)
n.1111+21T>C
c.862+21T>C (n.862+21T>C)
c.955+21T>C (n.955+21T>C)
c.634+21T>C (n.634+21T>C)
c.934+21T>C (n.934+21T>C)
c.937+21T>C (n.937+21T>C)
c.616+21T>C (n.616+21T>C)
c.907+21T>C (n.907+21T>C)
c.781+21T>C (n.781+21T>C)
c.*281+21T>C (n.*281+21T>C)
c.448+21T>C (n.448+21T>C)
c.799+21T>C (n.799+21T>C)
c.952+21T>C (n.952+21T>C)
c.904+21T>C (n.904+21T>C)
c.787+21T>C (n.787+21T>C)
c.769+21T>C (n.769+21T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69951907T=CA1373443601MITFc.889+21T= (n.889+21T=)
c.886+21T= (n.886+21T=)
n.1111+21T=
c.862+21T= (n.862+21T=)
c.955+21T= (n.955+21T=)
c.634+21T= (n.634+21T=)
c.934+21T= (n.934+21T=)
c.937+21T= (n.937+21T=)
c.616+21T= (n.616+21T=)
c.907+21T= (n.907+21T=)
c.781+21T= (n.781+21T=)
c.*281+21T= (n.*281+21T=)
c.448+21T= (n.448+21T=)
c.799+21T= (n.799+21T=)
c.952+21T= (n.952+21T=)
c.904+21T= (n.904+21T=)
c.787+21T= (n.787+21T=)
c.769+21T= (n.769+21T=)
3g.69951908T>CCA2577819631MITFc.889+22T>C (n.889+22T>C)
c.886+22T>C (n.886+22T>C)
n.1111+22T>C
c.862+22T>C (n.862+22T>C)
c.955+22T>C (n.955+22T>C)
c.634+22T>C (n.634+22T>C)
c.934+22T>C (n.934+22T>C)
c.937+22T>C (n.937+22T>C)
c.616+22T>C (n.616+22T>C)
c.907+22T>C (n.907+22T>C)
c.781+22T>C (n.781+22T>C)
c.*281+22T>C (n.*281+22T>C)
c.448+22T>C (n.448+22T>C)
c.799+22T>C (n.799+22T>C)
c.952+22T>C (n.952+22T>C)
c.904+22T>C (n.904+22T>C)
c.787+22T>C (n.787+22T>C)
c.769+22T>C (n.769+22T>C)
3g.69951909C>ACA2666480723MITFc.889+23C>A (n.889+23C>A)
c.886+23C>A (n.886+23C>A)
n.1111+23C>A
c.862+23C>A (n.862+23C>A)
c.955+23C>A (n.955+23C>A)
c.634+23C>A (n.634+23C>A)
c.934+23C>A (n.934+23C>A)
c.937+23C>A (n.937+23C>A)
c.616+23C>A (n.616+23C>A)
c.907+23C>A (n.907+23C>A)
c.781+23C>A (n.781+23C>A)
c.*281+23C>A (n.*281+23C>A)
c.448+23C>A (n.448+23C>A)
c.799+23C>A (n.799+23C>A)
c.952+23C>A (n.952+23C>A)
c.904+23C>A (n.904+23C>A)
c.787+23C>A (n.787+23C>A)
c.769+23C>A (n.769+23C>A)
 gnomAD v4
3g.69951910A>GCA2666480724MITFc.889+24A>G (n.889+24A>G)
c.886+24A>G (n.886+24A>G)
n.1111+24A>G
c.862+24A>G (n.862+24A>G)
c.955+24A>G (n.955+24A>G)
c.634+24A>G (n.634+24A>G)
c.934+24A>G (n.934+24A>G)
c.937+24A>G (n.937+24A>G)
c.616+24A>G (n.616+24A>G)
c.907+24A>G (n.907+24A>G)
c.781+24A>G (n.781+24A>G)
c.*281+24A>G (n.*281+24A>G)
c.448+24A>G (n.448+24A>G)
c.799+24A>G (n.799+24A>G)
c.952+24A>G (n.952+24A>G)
c.904+24A>G (n.904+24A>G)
c.787+24A>G (n.787+24A>G)
c.769+24A>G (n.769+24A>G)
 gnomAD v4

Number of alleles fetched