Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.69949086A=CA1373440657MITFc.750A= (p.Gly250=)
c.747A= (p.Gly249=)
n.972A=
c.723A= (p.Gly241=)
c.798A= (p.Gly266=)
c.477A= (p.Gly159=)
c.795A= (p.Gly265=)
c.642A= (p.Gly214=)
c.*124A= (n.*124A=)
c.309A= (p.Gly103=)
c.630A= (p.Gly210=)
3g.69949086A>CCA77001737MITFc.750A>C (p.Gly250=)
c.747A>C (p.Gly249=)
n.972A>C
c.723A>C (p.Gly241=)
c.798A>C (p.Gly266=)
c.477A>C (p.Gly159=)
c.795A>C (p.Gly265=)
c.642A>C (p.Gly214=)
c.*124A>C (n.*124A>C)
c.309A>C (p.Gly103=)
c.630A>C (p.Gly210=)
 dbSNP
3g.69949086A>GCA434305864MITFc.750A>G (p.Gly250=)
c.747A>G (p.Gly249=)
n.972A>G
c.723A>G (p.Gly241=)
c.798A>G (p.Gly266=)
c.477A>G (p.Gly159=)
c.795A>G (p.Gly265=)
c.642A>G (p.Gly214=)
c.*124A>G (n.*124A>G)
c.309A>G (p.Gly103=)
c.630A>G (p.Gly210=)
3g.69949086A>TCA434305865MITFc.750A>T (p.Gly250=)
c.747A>T (p.Gly249=)
n.972A>T
c.723A>T (p.Gly241=)
c.798A>T (p.Gly266=)
c.477A>T (p.Gly159=)
c.795A>T (p.Gly265=)
c.642A>T (p.Gly214=)
c.*124A>T (n.*124A>T)
c.309A>T (p.Gly103=)
c.630A>T (p.Gly210=)
3g.69949087A>CCA353561317MITFc.751A>C (p.Asn251His)
c.748A>C (p.Asn250His)
n.973A>C
c.724A>C (p.Asn242His)
c.799A>C (p.Asn267His)
c.478A>C (p.Asn160His)
c.796A>C (p.Asn266His)
c.643A>C (p.Asn215His)
c.*125A>C (n.*125A>C)
c.310A>C (p.Asn104His)
c.631A>C (p.Asn211His)
3g.69949087A>GCA353561318MITFc.751A>G (p.Asn251Asp)
c.748A>G (p.Asn250Asp)
n.973A>G
c.724A>G (p.Asn242Asp)
c.799A>G (p.Asn267Asp)
c.478A>G (p.Asn160Asp)
c.796A>G (p.Asn266Asp)
c.643A>G (p.Asn215Asp)
c.*125A>G (n.*125A>G)
c.310A>G (p.Asn104Asp)
c.631A>G (p.Asn211Asp)
3g.69949087A>TCA353561319MITFc.751A>T (p.Asn251Tyr)
c.748A>T (p.Asn250Tyr)
n.973A>T
c.724A>T (p.Asn242Tyr)
c.799A>T (p.Asn267Tyr)
c.478A>T (p.Asn160Tyr)
c.796A>T (p.Asn266Tyr)
c.643A>T (p.Asn215Tyr)
c.*125A>T (n.*125A>T)
c.310A>T (p.Asn104Tyr)
c.631A>T (p.Asn211Tyr)
3g.69949088A>CCA353561320MITFc.752A>C (p.Asn251Thr)
c.749A>C (p.Asn250Thr)
n.974A>C
c.725A>C (p.Asn242Thr)
c.800A>C (p.Asn267Thr)
c.479A>C (p.Asn160Thr)
c.797A>C (p.Asn266Thr)
c.644A>C (p.Asn215Thr)
c.*126A>C (n.*126A>C)
c.311A>C (p.Asn104Thr)
c.632A>C (p.Asn211Thr)
3g.69949088A>GCA353561321MITFc.752A>G (p.Asn251Ser)
c.749A>G (p.Asn250Ser)
n.974A>G
c.725A>G (p.Asn242Ser)
c.800A>G (p.Asn267Ser)
c.479A>G (p.Asn160Ser)
c.797A>G (p.Asn266Ser)
c.644A>G (p.Asn215Ser)
c.*126A>G (n.*126A>G)
c.311A>G (p.Asn104Ser)
c.632A>G (p.Asn211Ser)
3g.69949088A>TCA353561322MITFc.752A>T (p.Asn251Ile)
c.749A>T (p.Asn250Ile)
n.974A>T
c.725A>T (p.Asn242Ile)
c.800A>T (p.Asn267Ile)
c.479A>T (p.Asn160Ile)
c.797A>T (p.Asn266Ile)
c.644A>T (p.Asn215Ile)
c.*126A>T (n.*126A>T)
c.311A>T (p.Asn104Ile)
c.632A>T (p.Asn211Ile)
3g.69949089C>ACA2490475MITFc.753C>A (p.Asn251Lys)
c.750C>A (p.Asn250Lys)
n.975C>A
c.726C>A (p.Asn242Lys)
c.801C>A (p.Asn267Lys)
c.480C>A (p.Asn160Lys)
c.798C>A (p.Asn266Lys)
c.645C>A (p.Asn215Lys)
c.*127C>A (n.*127C>A)
c.312C>A (p.Asn104Lys)
c.633C>A (p.Asn211Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.69949089C=CA1373440660MITFc.753C= (p.Asn251=)
c.750C= (p.Asn250=)
n.975C=
c.726C= (p.Asn242=)
c.801C= (p.Asn267=)
c.480C= (p.Asn160=)
c.798C= (p.Asn266=)
c.645C= (p.Asn215=)
c.*127C= (n.*127C=)
c.312C= (p.Asn104=)
c.633C= (p.Asn211=)
3g.69949089C>GCA353561323MITFc.753C>G (p.Asn251Lys)
c.750C>G (p.Asn250Lys)
n.975C>G
c.726C>G (p.Asn242Lys)
c.801C>G (p.Asn267Lys)
c.480C>G (p.Asn160Lys)
c.798C>G (p.Asn266Lys)
c.645C>G (p.Asn215Lys)
c.*127C>G (n.*127C>G)
c.312C>G (p.Asn104Lys)
c.633C>G (p.Asn211Lys)
3g.69949089C>TCA434305866MITFc.753C>T (p.Asn251=)
c.750C>T (p.Asn250=)
n.975C>T
c.726C>T (p.Asn242=)
c.801C>T (p.Asn267=)
c.480C>T (p.Asn160=)
c.798C>T (p.Asn266=)
c.645C>T (p.Asn215=)
c.*127C>T (n.*127C>T)
c.312C>T (p.Asn104=)
c.633C>T (p.Asn211=)
3g.69949090C>ACA353561324MITFc.754C>A (p.Gln252Lys)
c.751C>A (p.Gln251Lys)
n.976C>A
c.727C>A (p.Gln243Lys)
c.802C>A (p.Gln268Lys)
c.481C>A (p.Gln161Lys)
c.799C>A (p.Gln267Lys)
c.646C>A (p.Gln216Lys)
c.*128C>A (n.*128C>A)
c.313C>A (p.Gln105Lys)
c.634C>A (p.Gln212Lys)
3g.69949090C=CA1373440663MITFc.754C= (p.Gln252=)
c.751C= (p.Gln251=)
n.976C=
c.727C= (p.Gln243=)
c.802C= (p.Gln268=)
c.481C= (p.Gln161=)
c.799C= (p.Gln267=)
c.646C= (p.Gln216=)
c.*128C= (n.*128C=)
c.313C= (p.Gln105=)
c.634C= (p.Gln212=)
3g.69949090C>GCA2490476MITFc.754C>G (p.Gln252Glu)
c.751C>G (p.Gln251Glu)
n.976C>G
c.727C>G (p.Gln243Glu)
c.802C>G (p.Gln268Glu)
c.481C>G (p.Gln161Glu)
c.799C>G (p.Gln267Glu)
c.646C>G (p.Gln216Glu)
c.*128C>G (n.*128C>G)
c.313C>G (p.Gln105Glu)
c.634C>G (p.Gln212Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69949090C>TCA353561325MITFc.754C>T (p.Gln252Ter)
c.751C>T (p.Gln251Ter)
n.976C>T
c.727C>T (p.Gln243Ter)
c.802C>T (p.Gln268Ter)
c.481C>T (p.Gln161Ter)
c.799C>T (p.Gln267Ter)
c.646C>T (p.Gln216Ter)
c.*128C>T (n.*128C>T)
c.313C>T (p.Gln105Ter)
c.634C>T (p.Gln212Ter)
3g.69949091A=CA1373440665MITFc.755A= (p.Gln252=)
c.752A= (p.Gln251=)
n.977A=
c.728A= (p.Gln243=)
c.803A= (p.Gln268=)
c.482A= (p.Gln161=)
c.800A= (p.Gln267=)
c.647A= (p.Gln216=)
c.*129A= (n.*129A=)
c.314A= (p.Gln105=)
c.635A= (p.Gln212=)
3g.69949091A>CCA353561326MITFc.755A>C (p.Gln252Pro)
c.752A>C (p.Gln251Pro)
n.977A>C
c.728A>C (p.Gln243Pro)
c.803A>C (p.Gln268Pro)
c.482A>C (p.Gln161Pro)
c.800A>C (p.Gln267Pro)
c.647A>C (p.Gln216Pro)
c.*129A>C (n.*129A>C)
c.314A>C (p.Gln105Pro)
c.635A>C (p.Gln212Pro)
3g.69949091A>GCA77001738MITFc.755A>G (p.Gln252Arg)
c.752A>G (p.Gln251Arg)
n.977A>G
c.728A>G (p.Gln243Arg)
c.803A>G (p.Gln268Arg)
c.482A>G (p.Gln161Arg)
c.800A>G (p.Gln267Arg)
c.647A>G (p.Gln216Arg)
c.*129A>G (n.*129A>G)
c.314A>G (p.Gln105Arg)
c.635A>G (p.Gln212Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.69949091A>TCA353561327MITFc.755A>T (p.Gln252Leu)
c.752A>T (p.Gln251Leu)
n.977A>T
c.728A>T (p.Gln243Leu)
c.803A>T (p.Gln268Leu)
c.482A>T (p.Gln161Leu)
c.800A>T (p.Gln267Leu)
c.647A>T (p.Gln216Leu)
c.*129A>T (n.*129A>T)
c.314A>T (p.Gln105Leu)
c.635A>T (p.Gln212Leu)
3g.69949092A=CA1373440670MITFc.756A= (p.Gln252=)
c.753A= (p.Gln251=)
n.978A=
c.729A= (p.Gln243=)
c.804A= (p.Gln268=)
c.483A= (p.Gln161=)
c.801A= (p.Gln267=)
c.648A= (p.Gln216=)
c.*130A= (n.*130A=)
c.315A= (p.Gln105=)
c.636A= (p.Gln212=)
3g.69949092A>CCA353561328MITFc.756A>C (p.Gln252His)
c.753A>C (p.Gln251His)
n.978A>C
c.729A>C (p.Gln243His)
c.804A>C (p.Gln268His)
c.483A>C (p.Gln161His)
c.801A>C (p.Gln267His)
c.648A>C (p.Gln216His)
c.*130A>C (n.*130A>C)
c.315A>C (p.Gln105His)
c.636A>C (p.Gln212His)
3g.69949092A>GCA434305867MITFc.756A>G (p.Gln252=)
c.753A>G (p.Gln251=)
n.978A>G
c.729A>G (p.Gln243=)
c.804A>G (p.Gln268=)
c.483A>G (p.Gln161=)
c.801A>G (p.Gln267=)
c.648A>G (p.Gln216=)
c.*130A>G (n.*130A>G)
c.315A>G (p.Gln105=)
c.636A>G (p.Gln212=)
 dbSNP gnomAD v3 gnomAD v4
3g.69949092A>TCA77001739MITFc.756A>T (p.Gln252His)
c.753A>T (p.Gln251His)
n.978A>T
c.729A>T (p.Gln243His)
c.804A>T (p.Gln268His)
c.483A>T (p.Gln161His)
c.801A>T (p.Gln267His)
c.648A>T (p.Gln216His)
c.*130A>T (n.*130A>T)
c.315A>T (p.Gln105His)
c.636A>T (p.Gln212His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69949093G>ACA77001740MITFc.757G>A (p.Gly253Ser)
c.754G>A (p.Gly252Ser)
n.979G>A
c.730G>A (p.Gly244Ser)
c.805G>A (p.Gly269Ser)
c.484G>A (p.Gly162Ser)
c.802G>A (p.Gly268Ser)
c.649G>A (p.Gly217Ser)
c.*131G>A (n.*131G>A)
c.316G>A (p.Gly106Ser)
c.637G>A (p.Gly213Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69949093G>CCA353561330MITFc.757G>C (p.Gly253Arg)
c.754G>C (p.Gly252Arg)
n.979G>C
c.730G>C (p.Gly244Arg)
c.805G>C (p.Gly269Arg)
c.484G>C (p.Gly162Arg)
c.802G>C (p.Gly268Arg)
c.649G>C (p.Gly217Arg)
c.*131G>C (n.*131G>C)
c.316G>C (p.Gly106Arg)
c.637G>C (p.Gly213Arg)
3g.69949093G=CA1373440674MITFc.757G= (p.Gly253=)
c.754G= (p.Gly252=)
n.979G=
c.730G= (p.Gly244=)
c.805G= (p.Gly269=)
c.484G= (p.Gly162=)
c.802G= (p.Gly268=)
c.649G= (p.Gly217=)
c.*131G= (n.*131G=)
c.316G= (p.Gly106=)
c.637G= (p.Gly213=)
3g.69949093G>TCA353561329MITFc.757G>T (p.Gly253Cys)
c.754G>T (p.Gly252Cys)
n.979G>T
c.730G>T (p.Gly244Cys)
c.805G>T (p.Gly269Cys)
c.484G>T (p.Gly162Cys)
c.802G>T (p.Gly268Cys)
c.649G>T (p.Gly217Cys)
c.*131G>T (n.*131G>T)
c.316G>T (p.Gly106Cys)
c.637G>T (p.Gly213Cys)
3g.69949094G>ACA353561331MITFc.758G>A (p.Gly253Asp)
c.755G>A (p.Gly252Asp)
n.980G>A
c.731G>A (p.Gly244Asp)
c.806G>A (p.Gly269Asp)
c.485G>A (p.Gly162Asp)
c.803G>A (p.Gly268Asp)
c.650G>A (p.Gly217Asp)
c.*132G>A (n.*132G>A)
c.317G>A (p.Gly106Asp)
c.638G>A (p.Gly213Asp)
 gnomAD v4
3g.69949094G>CCA353561332MITFc.758G>C (p.Gly253Ala)
c.755G>C (p.Gly252Ala)
n.980G>C
c.731G>C (p.Gly244Ala)
c.806G>C (p.Gly269Ala)
c.485G>C (p.Gly162Ala)
c.803G>C (p.Gly268Ala)
c.650G>C (p.Gly217Ala)
c.*132G>C (n.*132G>C)
c.317G>C (p.Gly106Ala)
c.638G>C (p.Gly213Ala)
3g.69949094G>TCA353561333MITFc.758G>T (p.Gly253Val)
c.755G>T (p.Gly252Val)
n.980G>T
c.731G>T (p.Gly244Val)
c.806G>T (p.Gly269Val)
c.485G>T (p.Gly162Val)
c.803G>T (p.Gly268Val)
c.650G>T (p.Gly217Val)
c.*132G>T (n.*132G>T)
c.317G>T (p.Gly106Val)
c.638G>T (p.Gly213Val)
3g.69949095T>ACA434305868MITFc.759T>A (p.Gly253=)
c.756T>A (p.Gly252=)
n.981T>A
c.732T>A (p.Gly244=)
c.807T>A (p.Gly269=)
c.486T>A (p.Gly162=)
c.804T>A (p.Gly268=)
c.651T>A (p.Gly217=)
c.*133T>A (n.*133T>A)
c.318T>A (p.Gly106=)
c.639T>A (p.Gly213=)
3g.69949095T>CCA434305869MITFc.759T>C (p.Gly253=)
c.756T>C (p.Gly252=)
n.981T>C
c.732T>C (p.Gly244=)
c.807T>C (p.Gly269=)
c.486T>C (p.Gly162=)
c.804T>C (p.Gly268=)
c.651T>C (p.Gly217=)
c.*133T>C (n.*133T>C)
c.318T>C (p.Gly106=)
c.639T>C (p.Gly213=)
3g.69949095T>GCA434305870MITFc.759T>G (p.Gly253=)
c.756T>G (p.Gly252=)
n.981T>G
c.732T>G (p.Gly244=)
c.807T>G (p.Gly269=)
c.486T>G (p.Gly162=)
c.804T>G (p.Gly268=)
c.651T>G (p.Gly217=)
c.*133T>G (n.*133T>G)
c.318T>G (p.Gly106=)
c.639T>G (p.Gly213=)
3g.69949096C>ACA353561334MITFc.760C>A (p.Leu254Met)
c.757C>A (p.Leu253Met)
n.982C>A
c.733C>A (p.Leu245Met)
c.808C>A (p.Leu270Met)
c.487C>A (p.Leu163Met)
c.805C>A (p.Leu269Met)
c.652C>A (p.Leu218Met)
c.*134C>A (n.*134C>A)
c.319C>A (p.Leu107Met)
c.640C>A (p.Leu214Met)
 dbSNP gnomAD v2 gnomAD v4
3g.69949096C=CA1373440677MITFc.760C= (p.Leu254=)
c.757C= (p.Leu253=)
n.982C=
c.733C= (p.Leu245=)
c.808C= (p.Leu270=)
c.487C= (p.Leu163=)
c.805C= (p.Leu269=)
c.652C= (p.Leu218=)
c.*134C= (n.*134C=)
c.319C= (p.Leu107=)
c.640C= (p.Leu214=)
3g.69949096C>GCA353561335MITFc.760C>G (p.Leu254Val)
c.757C>G (p.Leu253Val)
n.982C>G
c.733C>G (p.Leu245Val)
c.808C>G (p.Leu270Val)
c.487C>G (p.Leu163Val)
c.805C>G (p.Leu269Val)
c.652C>G (p.Leu218Val)
c.*134C>G (n.*134C>G)
c.319C>G (p.Leu107Val)
c.640C>G (p.Leu214Val)
 gnomAD v4
3g.69949096C>TCA434305871MITFc.760C>T (p.Leu254=)
c.757C>T (p.Leu253=)
n.982C>T
c.733C>T (p.Leu245=)
c.808C>T (p.Leu270=)
c.487C>T (p.Leu163=)
c.805C>T (p.Leu269=)
c.652C>T (p.Leu218=)
c.*134C>T (n.*134C>T)
c.319C>T (p.Leu107=)
c.640C>T (p.Leu214=)
 ClinVar dbSNP
3g.69949097T>ACA353561336MITFc.761T>A (p.Leu254Gln)
c.758T>A (p.Leu253Gln)
n.983T>A
c.734T>A (p.Leu245Gln)
c.809T>A (p.Leu270Gln)
c.488T>A (p.Leu163Gln)
c.806T>A (p.Leu269Gln)
c.653T>A (p.Leu218Gln)
c.*135T>A (n.*135T>A)
c.320T>A (p.Leu107Gln)
c.641T>A (p.Leu214Gln)
3g.69949097T>CCA353561337MITFc.761T>C (p.Leu254Pro)
c.758T>C (p.Leu253Pro)
n.983T>C
c.734T>C (p.Leu245Pro)
c.809T>C (p.Leu270Pro)
c.488T>C (p.Leu163Pro)
c.806T>C (p.Leu269Pro)
c.653T>C (p.Leu218Pro)
c.*135T>C (n.*135T>C)
c.320T>C (p.Leu107Pro)
c.641T>C (p.Leu214Pro)
3g.69949097T>GCA353561338MITFc.761T>G (p.Leu254Arg)
c.758T>G (p.Leu253Arg)
n.983T>G
c.734T>G (p.Leu245Arg)
c.809T>G (p.Leu270Arg)
c.488T>G (p.Leu163Arg)
c.806T>G (p.Leu269Arg)
c.653T>G (p.Leu218Arg)
c.*135T>G (n.*135T>G)
c.320T>G (p.Leu107Arg)
c.641T>G (p.Leu214Arg)
3g.69949098G>ACA434305874MITFc.762G>A (p.Leu254=)
c.759G>A (p.Leu253=)
n.984G>A
c.735G>A (p.Leu245=)
c.810G>A (p.Leu270=)
c.489G>A (p.Leu163=)
c.807G>A (p.Leu269=)
c.654G>A (p.Leu218=)
c.*136G>A (n.*136G>A)
c.321G>A (p.Leu107=)
c.642G>A (p.Leu214=)
 gnomAD v4
3g.69949098G>CCA434305872MITFc.762G>C (p.Leu254=)
c.759G>C (p.Leu253=)
n.984G>C
c.735G>C (p.Leu245=)
c.810G>C (p.Leu270=)
c.489G>C (p.Leu163=)
c.807G>C (p.Leu269=)
c.654G>C (p.Leu218=)
c.*136G>C (n.*136G>C)
c.321G>C (p.Leu107=)
c.642G>C (p.Leu214=)
3g.69949098G>TCA434305873MITFc.762G>T (p.Leu254=)
c.759G>T (p.Leu253=)
n.984G>T
c.735G>T (p.Leu245=)
c.810G>T (p.Leu270=)
c.489G>T (p.Leu163=)
c.807G>T (p.Leu269=)
c.654G>T (p.Leu218=)
c.*136G>T (n.*136G>T)
c.321G>T (p.Leu107=)
c.642G>T (p.Leu214=)
3g.69949099C>ACA353561339MITFc.763C>A (p.Pro255Thr)
c.760C>A (p.Pro254Thr)
n.985C>A
c.736C>A (p.Pro246Thr)
c.811C>A (p.Pro271Thr)
c.490C>A (p.Pro164Thr)
c.808C>A (p.Pro270Thr)
c.655C>A (p.Pro219Thr)
c.*137C>A (n.*137C>A)
c.322C>A (p.Pro108Thr)
c.643C>A (p.Pro215Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69949099C=CA1373440681MITFc.763C= (p.Pro255=)
c.760C= (p.Pro254=)
n.985C=
c.736C= (p.Pro246=)
c.811C= (p.Pro271=)
c.490C= (p.Pro164=)
c.808C= (p.Pro270=)
c.655C= (p.Pro219=)
c.*137C= (n.*137C=)
c.322C= (p.Pro108=)
c.643C= (p.Pro215=)
3g.69949099C>GCA353561340MITFc.763C>G (p.Pro255Ala)
c.760C>G (p.Pro254Ala)
n.985C>G
c.736C>G (p.Pro246Ala)
c.811C>G (p.Pro271Ala)
c.490C>G (p.Pro164Ala)
c.808C>G (p.Pro270Ala)
c.655C>G (p.Pro219Ala)
c.*137C>G (n.*137C>G)
c.322C>G (p.Pro108Ala)
c.643C>G (p.Pro215Ala)
3g.69949099C>TCA353561341MITFc.763C>T (p.Pro255Ser)
c.760C>T (p.Pro254Ser)
n.985C>T
c.736C>T (p.Pro246Ser)
c.811C>T (p.Pro271Ser)
c.490C>T (p.Pro164Ser)
c.808C>T (p.Pro270Ser)
c.655C>T (p.Pro219Ser)
c.*137C>T (n.*137C>T)
c.322C>T (p.Pro108Ser)
c.643C>T (p.Pro215Ser)
 dbSNP gnomAD v4
3g.69949103delCA658820720MITFc.767del (p.Pro256HisfsTer17)
c.764del (p.Pro255HisfsTer17)
n.989del
c.740del (p.Pro247HisfsTer17)
c.815del (p.Pro272HisfsTer17)
c.494del (p.Pro165HisfsTer17)
c.812del (p.Pro271HisfsTer17)
c.659del (p.Pro220HisfsTer17)
c.*141del (n.*141del)
c.326del (p.Pro109HisfsTer17)
c.647del (p.Pro216HisfsTer17)
 ClinVar
3g.69949100C>ACA353561343MITFc.764C>A (p.Pro255His)
c.761C>A (p.Pro254His)
n.986C>A
c.737C>A (p.Pro246His)
c.812C>A (p.Pro271His)
c.491C>A (p.Pro164His)
c.809C>A (p.Pro270His)
c.656C>A (p.Pro219His)
c.*138C>A (n.*138C>A)
c.323C>A (p.Pro108His)
c.644C>A (p.Pro215His)
3g.69949100C=CA1373440684MITFc.764C= (p.Pro255=)
c.761C= (p.Pro254=)
n.986C=
c.737C= (p.Pro246=)
c.812C= (p.Pro271=)
c.491C= (p.Pro164=)
c.809C= (p.Pro270=)
c.656C= (p.Pro219=)
c.*138C= (n.*138C=)
c.323C= (p.Pro108=)
c.644C= (p.Pro215=)
3g.69949100C>GCA353561342MITFc.764C>G (p.Pro255Arg)
c.761C>G (p.Pro254Arg)
n.986C>G
c.737C>G (p.Pro246Arg)
c.812C>G (p.Pro271Arg)
c.491C>G (p.Pro164Arg)
c.809C>G (p.Pro270Arg)
c.656C>G (p.Pro219Arg)
c.*138C>G (n.*138C>G)
c.323C>G (p.Pro108Arg)
c.644C>G (p.Pro215Arg)
3g.69949100C>TCA2490477MITFc.764C>T (p.Pro255Leu)
c.761C>T (p.Pro254Leu)
n.986C>T
c.737C>T (p.Pro246Leu)
c.812C>T (p.Pro271Leu)
c.491C>T (p.Pro164Leu)
c.809C>T (p.Pro270Leu)
c.656C>T (p.Pro219Leu)
c.*138C>T (n.*138C>T)
c.323C>T (p.Pro108Leu)
c.644C>T (p.Pro215Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.69949101C>ACA434305875MITFc.765C>A (p.Pro255=)
c.762C>A (p.Pro254=)
n.987C>A
c.738C>A (p.Pro246=)
c.813C>A (p.Pro271=)
c.492C>A (p.Pro164=)
c.810C>A (p.Pro270=)
c.657C>A (p.Pro219=)
c.*139C>A (n.*139C>A)
c.324C>A (p.Pro108=)
c.645C>A (p.Pro215=)
 dbSNP
3g.69949101C=CA1373440686MITFc.765C= (p.Pro255=)
c.762C= (p.Pro254=)
n.987C=
c.738C= (p.Pro246=)
c.813C= (p.Pro271=)
c.492C= (p.Pro164=)
c.810C= (p.Pro270=)
c.657C= (p.Pro219=)
c.*139C= (n.*139C=)
c.324C= (p.Pro108=)
c.645C= (p.Pro215=)
3g.69949101C>GCA434305876MITFc.765C>G (p.Pro255=)
c.762C>G (p.Pro254=)
n.987C>G
c.738C>G (p.Pro246=)
c.813C>G (p.Pro271=)
c.492C>G (p.Pro164=)
c.810C>G (p.Pro270=)
c.657C>G (p.Pro219=)
c.*139C>G (n.*139C>G)
c.324C>G (p.Pro108=)
c.645C>G (p.Pro215=)
3g.69949101C>TCA434305877MITFc.765C>T (p.Pro255=)
c.762C>T (p.Pro254=)
n.987C>T
c.738C>T (p.Pro246=)
c.813C>T (p.Pro271=)
c.492C>T (p.Pro164=)
c.810C>T (p.Pro270=)
c.657C>T (p.Pro219=)
c.*139C>T (n.*139C>T)
c.324C>T (p.Pro108=)
c.645C>T (p.Pro215=)
3g.69949102C>ACA2490478MITFc.766C>A (p.Pro256Thr)
c.763C>A (p.Pro255Thr)
n.988C>A
c.739C>A (p.Pro247Thr)
c.814C>A (p.Pro272Thr)
c.493C>A (p.Pro165Thr)
c.811C>A (p.Pro271Thr)
c.658C>A (p.Pro220Thr)
c.*140C>A (n.*140C>A)
c.325C>A (p.Pro109Thr)
c.646C>A (p.Pro216Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69949102C=CA1373440690MITFc.766C= (p.Pro256=)
c.763C= (p.Pro255=)
n.988C=
c.739C= (p.Pro247=)
c.814C= (p.Pro272=)
c.493C= (p.Pro165=)
c.811C= (p.Pro271=)
c.658C= (p.Pro220=)
c.*140C= (n.*140C=)
c.325C= (p.Pro109=)
c.646C= (p.Pro216=)
3g.69949102C>GCA353561344MITFc.766C>G (p.Pro256Ala)
c.763C>G (p.Pro255Ala)
n.988C>G
c.739C>G (p.Pro247Ala)
c.814C>G (p.Pro272Ala)
c.493C>G (p.Pro165Ala)
c.811C>G (p.Pro271Ala)
c.658C>G (p.Pro220Ala)
c.*140C>G (n.*140C>G)
c.325C>G (p.Pro109Ala)
c.646C>G (p.Pro216Ala)
3g.69949102C>TCA353561345MITFc.766C>T (p.Pro256Ser)
c.763C>T (p.Pro255Ser)
n.988C>T
c.739C>T (p.Pro247Ser)
c.814C>T (p.Pro272Ser)
c.493C>T (p.Pro165Ser)
c.811C>T (p.Pro271Ser)
c.658C>T (p.Pro220Ser)
c.*140C>T (n.*140C>T)
c.325C>T (p.Pro109Ser)
c.646C>T (p.Pro216Ser)
3g.69949103C>ACA2490480MITFc.767C>A (p.Pro256Gln)
c.764C>A (p.Pro255Gln)
n.989C>A
c.740C>A (p.Pro247Gln)
c.815C>A (p.Pro272Gln)
c.494C>A (p.Pro165Gln)
c.812C>A (p.Pro271Gln)
c.659C>A (p.Pro220Gln)
c.*141C>A (n.*141C>A)
c.326C>A (p.Pro109Gln)
c.647C>A (p.Pro216Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.69949103C=CA1373440693MITFc.767C= (p.Pro256=)
c.764C= (p.Pro255=)
n.989C=
c.740C= (p.Pro247=)
c.815C= (p.Pro272=)
c.494C= (p.Pro165=)
c.812C= (p.Pro271=)
c.659C= (p.Pro220=)
c.*141C= (n.*141C=)
c.326C= (p.Pro109=)
c.647C= (p.Pro216=)
3g.69949103C>GCA353561346MITFc.767C>G (p.Pro256Arg)
c.764C>G (p.Pro255Arg)
n.989C>G
c.740C>G (p.Pro247Arg)
c.815C>G (p.Pro272Arg)
c.494C>G (p.Pro165Arg)
c.812C>G (p.Pro271Arg)
c.659C>G (p.Pro220Arg)
c.*141C>G (n.*141C>G)
c.326C>G (p.Pro109Arg)
c.647C>G (p.Pro216Arg)
 gnomAD v4
3g.69949103C>TCA2490479MITFc.767C>T (p.Pro256Leu)
c.764C>T (p.Pro255Leu)
n.989C>T
c.740C>T (p.Pro247Leu)
c.815C>T (p.Pro272Leu)
c.494C>T (p.Pro165Leu)
c.812C>T (p.Pro271Leu)
c.659C>T (p.Pro220Leu)
c.*141C>T (n.*141C>T)
c.326C>T (p.Pro109Leu)
c.647C>T (p.Pro216Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.69949104A=CA1373440697MITFc.768A= (p.Pro256=)
c.765A= (p.Pro255=)
n.990A=
c.741A= (p.Pro247=)
c.816A= (p.Pro272=)
c.495A= (p.Pro165=)
c.813A= (p.Pro271=)
c.660A= (p.Pro220=)
c.*142A= (n.*142A=)
c.327A= (p.Pro109=)
c.648A= (p.Pro216=)
3g.69949104A>CCA434305878MITFc.768A>C (p.Pro256=)
c.765A>C (p.Pro255=)
n.990A>C
c.741A>C (p.Pro247=)
c.816A>C (p.Pro272=)
c.495A>C (p.Pro165=)
c.813A>C (p.Pro271=)
c.660A>C (p.Pro220=)
c.*142A>C (n.*142A>C)
c.327A>C (p.Pro109=)
c.648A>C (p.Pro216=)
3g.69949104A>GCA434305879MITFc.768A>G (p.Pro256=)
c.765A>G (p.Pro255=)
n.990A>G
c.741A>G (p.Pro247=)
c.816A>G (p.Pro272=)
c.495A>G (p.Pro165=)
c.813A>G (p.Pro271=)
c.660A>G (p.Pro220=)
c.*142A>G (n.*142A>G)
c.327A>G (p.Pro109=)
c.648A>G (p.Pro216=)
3g.69949104A>TCA434305880MITFc.768A>T (p.Pro256=)
c.765A>T (p.Pro255=)
n.990A>T
c.741A>T (p.Pro247=)
c.816A>T (p.Pro272=)
c.495A>T (p.Pro165=)
c.813A>T (p.Pro271=)
c.660A>T (p.Pro220=)
c.*142A>T (n.*142A>T)
c.327A>T (p.Pro109=)
c.648A>T (p.Pro216=)
 dbSNP gnomAD v3 gnomAD v4
3g.69949105C>ACA353561347MITFc.769C>A (p.Pro257Thr)
c.766C>A (p.Pro256Thr)
n.991C>A
c.742C>A (p.Pro248Thr)
c.817C>A (p.Pro273Thr)
c.496C>A (p.Pro166Thr)
c.814C>A (p.Pro272Thr)
c.661C>A (p.Pro221Thr)
c.*143C>A (n.*143C>A)
c.328C>A (p.Pro110Thr)
c.649C>A (p.Pro217Thr)
3g.69949105C=CA1373440699MITFc.769C= (p.Pro257=)
c.766C= (p.Pro256=)
n.991C=
c.742C= (p.Pro248=)
c.817C= (p.Pro273=)
c.496C= (p.Pro166=)
c.814C= (p.Pro272=)
c.661C= (p.Pro221=)
c.*143C= (n.*143C=)
c.328C= (p.Pro110=)
c.649C= (p.Pro217=)
3g.69949105C>GCA2490481MITFc.769C>G (p.Pro257Ala)
c.766C>G (p.Pro256Ala)
n.991C>G
c.742C>G (p.Pro248Ala)
c.817C>G (p.Pro273Ala)
c.496C>G (p.Pro166Ala)
c.814C>G (p.Pro272Ala)
c.661C>G (p.Pro221Ala)
c.*143C>G (n.*143C>G)
c.328C>G (p.Pro110Ala)
c.649C>G (p.Pro217Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69949105C>TCA353561348MITFc.769C>T (p.Pro257Ser)
c.766C>T (p.Pro256Ser)
n.991C>T
c.742C>T (p.Pro248Ser)
c.817C>T (p.Pro273Ser)
c.496C>T (p.Pro166Ser)
c.814C>T (p.Pro272Ser)
c.661C>T (p.Pro221Ser)
c.*143C>T (n.*143C>T)
c.328C>T (p.Pro110Ser)
c.649C>T (p.Pro217Ser)
3g.69949106C>ACA353561349MITFc.770C>A (p.Pro257Gln)
c.767C>A (p.Pro256Gln)
n.992C>A
c.743C>A (p.Pro248Gln)
c.818C>A (p.Pro273Gln)
c.497C>A (p.Pro166Gln)
c.815C>A (p.Pro272Gln)
c.662C>A (p.Pro221Gln)
c.*144C>A (n.*144C>A)
c.329C>A (p.Pro110Gln)
c.650C>A (p.Pro217Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.69949106C=CA1373440701MITFc.770C= (p.Pro257=)
c.767C= (p.Pro256=)
n.992C=
c.743C= (p.Pro248=)
c.818C= (p.Pro273=)
c.497C= (p.Pro166=)
c.815C= (p.Pro272=)
c.662C= (p.Pro221=)
c.*144C= (n.*144C=)
c.329C= (p.Pro110=)
c.650C= (p.Pro217=)
3g.69949106C>GCA353561350MITFc.770C>G (p.Pro257Arg)
c.767C>G (p.Pro256Arg)
n.992C>G
c.743C>G (p.Pro248Arg)
c.818C>G (p.Pro273Arg)
c.497C>G (p.Pro166Arg)
c.815C>G (p.Pro272Arg)
c.662C>G (p.Pro221Arg)
c.*144C>G (n.*144C>G)
c.329C>G (p.Pro110Arg)
c.650C>G (p.Pro217Arg)
3g.69949106C>TCA353561351MITFc.770C>T (p.Pro257Leu)
c.767C>T (p.Pro256Leu)
n.992C>T
c.743C>T (p.Pro248Leu)
c.818C>T (p.Pro273Leu)
c.497C>T (p.Pro166Leu)
c.815C>T (p.Pro272Leu)
c.662C>T (p.Pro221Leu)
c.*144C>T (n.*144C>T)
c.329C>T (p.Pro110Leu)
c.650C>T (p.Pro217Leu)
 dbSNP
3g.69949107A=CA1373440704MITFc.771A= (p.Pro257=)
c.768A= (p.Pro256=)
n.993A=
c.744A= (p.Pro248=)
c.819A= (p.Pro273=)
c.498A= (p.Pro166=)
c.816A= (p.Pro272=)
c.663A= (p.Pro221=)
c.*145A= (n.*145A=)
c.330A= (p.Pro110=)
c.651A= (p.Pro217=)
3g.69949107A>CCA434305881MITFc.771A>C (p.Pro257=)
c.768A>C (p.Pro256=)
n.993A>C
c.744A>C (p.Pro248=)
c.819A>C (p.Pro273=)
c.498A>C (p.Pro166=)
c.816A>C (p.Pro272=)
c.663A>C (p.Pro221=)
c.*145A>C (n.*145A>C)
c.330A>C (p.Pro110=)
c.651A>C (p.Pro217=)
 dbSNP gnomAD v3 gnomAD v4
3g.69949107A>GCA434305882MITFc.771A>G (p.Pro257=)
c.768A>G (p.Pro256=)
n.993A>G
c.744A>G (p.Pro248=)
c.819A>G (p.Pro273=)
c.498A>G (p.Pro166=)
c.816A>G (p.Pro272=)
c.663A>G (p.Pro221=)
c.*145A>G (n.*145A>G)
c.330A>G (p.Pro110=)
c.651A>G (p.Pro217=)
3g.69949107A>TCA434305883MITFc.771A>T (p.Pro257=)
c.768A>T (p.Pro256=)
n.993A>T
c.744A>T (p.Pro248=)
c.819A>T (p.Pro273=)
c.498A>T (p.Pro166=)
c.816A>T (p.Pro272=)
c.663A>T (p.Pro221=)
c.*145A>T (n.*145A>T)
c.330A>T (p.Pro110=)
c.651A>T (p.Pro217=)
3g.69949108G>ACA353561352MITFc.772G>A (p.Gly258Ser)
c.769G>A (p.Gly257Ser)
n.994G>A
c.745G>A (p.Gly249Ser)
c.820G>A (p.Gly274Ser)
c.499G>A (p.Gly167Ser)
c.817G>A (p.Gly273Ser)
c.664G>A (p.Gly222Ser)
c.*146G>A (n.*146G>A)
c.331G>A (p.Gly111Ser)
c.652G>A (p.Gly218Ser)
 gnomAD v4
3g.69949108G>CCA353561354MITFc.772G>C (p.Gly258Arg)
c.769G>C (p.Gly257Arg)
n.994G>C
c.745G>C (p.Gly249Arg)
c.820G>C (p.Gly274Arg)
c.499G>C (p.Gly167Arg)
c.817G>C (p.Gly273Arg)
c.664G>C (p.Gly222Arg)
c.*146G>C (n.*146G>C)
c.331G>C (p.Gly111Arg)
c.652G>C (p.Gly218Arg)
3g.69949108G>TCA353561353MITFc.772G>T (p.Gly258Cys)
c.769G>T (p.Gly257Cys)
n.994G>T
c.745G>T (p.Gly249Cys)
c.820G>T (p.Gly274Cys)
c.499G>T (p.Gly167Cys)
c.817G>T (p.Gly273Cys)
c.664G>T (p.Gly222Cys)
c.*146G>T (n.*146G>T)
c.331G>T (p.Gly111Cys)
c.652G>T (p.Gly218Cys)
3g.69949109G>ACA353561355MITFc.773G>A (p.Gly258Asp)
c.770G>A (p.Gly257Asp)
n.995G>A
c.746G>A (p.Gly249Asp)
c.821G>A (p.Gly274Asp)
c.500G>A (p.Gly167Asp)
c.818G>A (p.Gly273Asp)
c.665G>A (p.Gly222Asp)
c.*147G>A (n.*147G>A)
c.332G>A (p.Gly111Asp)
c.653G>A (p.Gly218Asp)
3g.69949109G>CCA353561357MITFc.773G>C (p.Gly258Ala)
c.770G>C (p.Gly257Ala)
n.995G>C
c.746G>C (p.Gly249Ala)
c.821G>C (p.Gly274Ala)
c.500G>C (p.Gly167Ala)
c.818G>C (p.Gly273Ala)
c.665G>C (p.Gly222Ala)
c.*147G>C (n.*147G>C)
c.332G>C (p.Gly111Ala)
c.653G>C (p.Gly218Ala)
 dbSNP
3g.69949109G>TCA353561356MITFc.773G>T (p.Gly258Val)
c.770G>T (p.Gly257Val)
n.995G>T
c.746G>T (p.Gly249Val)
c.821G>T (p.Gly274Val)
c.500G>T (p.Gly167Val)
c.818G>T (p.Gly273Val)
c.665G>T (p.Gly222Val)
c.*147G>T (n.*147G>T)
c.332G>T (p.Gly111Val)
c.653G>T (p.Gly218Val)
 gnomAD v4
3g.69949110C>ACA2490482MITFc.774C>A (p.Gly258=)
c.771C>A (p.Gly257=)
n.996C>A
c.747C>A (p.Gly249=)
c.822C>A (p.Gly274=)
c.501C>A (p.Gly167=)
c.819C>A (p.Gly273=)
c.666C>A (p.Gly222=)
c.*148C>A (n.*148C>A)
c.333C>A (p.Gly111=)
c.654C>A (p.Gly218=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.69949110C=CA1373440707MITFc.774C= (p.Gly258=)
c.771C= (p.Gly257=)
n.996C=
c.747C= (p.Gly249=)
c.822C= (p.Gly274=)
c.501C= (p.Gly167=)
c.819C= (p.Gly273=)
c.666C= (p.Gly222=)
c.*148C= (n.*148C=)
c.333C= (p.Gly111=)
c.654C= (p.Gly218=)
3g.69949110C>GCA434305884MITFc.774C>G (p.Gly258=)
c.771C>G (p.Gly257=)
n.996C>G
c.747C>G (p.Gly249=)
c.822C>G (p.Gly274=)
c.501C>G (p.Gly167=)
c.819C>G (p.Gly273=)
c.666C>G (p.Gly222=)
c.*148C>G (n.*148C>G)
c.333C>G (p.Gly111=)
c.654C>G (p.Gly218=)
3g.69949110C>TCA434305885MITFc.774C>T (p.Gly258=)
c.771C>T (p.Gly257=)
n.996C>T
c.747C>T (p.Gly249=)
c.822C>T (p.Gly274=)
c.501C>T (p.Gly167=)
c.819C>T (p.Gly273=)
c.666C>T (p.Gly222=)
c.*148C>T (n.*148C>T)
c.333C>T (p.Gly111=)
c.654C>T (p.Gly218=)
 dbSNP
3g.69949111C>ACA77001741MITFc.775C>A (p.Leu259Ile)
c.772C>A (p.Leu258Ile)
n.997C>A
c.748C>A (p.Leu250Ile)
c.823C>A (p.Leu275Ile)
c.502C>A (p.Leu168Ile)
c.820C>A (p.Leu274Ile)
c.667C>A (p.Leu223Ile)
c.*149C>A (n.*149C>A)
c.334C>A (p.Leu112Ile)
c.655C>A (p.Leu219Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69949111C=CA1373440711MITFc.775C= (p.Leu259=)
c.772C= (p.Leu258=)
n.997C=
c.748C= (p.Leu250=)
c.823C= (p.Leu275=)
c.502C= (p.Leu168=)
c.820C= (p.Leu274=)
c.667C= (p.Leu223=)
c.*149C= (n.*149C=)
c.334C= (p.Leu112=)
c.655C= (p.Leu219=)
3g.69949111C>GCA353561358MITFc.775C>G (p.Leu259Val)
c.772C>G (p.Leu258Val)
n.997C>G
c.748C>G (p.Leu250Val)
c.823C>G (p.Leu275Val)
c.502C>G (p.Leu168Val)
c.820C>G (p.Leu274Val)
c.667C>G (p.Leu223Val)
c.*149C>G (n.*149C>G)
c.334C>G (p.Leu112Val)
c.655C>G (p.Leu219Val)
 gnomAD v4
3g.69949111C>TCA353561359MITFc.775C>T (p.Leu259Phe)
c.772C>T (p.Leu258Phe)
n.997C>T
c.748C>T (p.Leu250Phe)
c.823C>T (p.Leu275Phe)
c.502C>T (p.Leu168Phe)
c.820C>T (p.Leu274Phe)
c.667C>T (p.Leu223Phe)
c.*149C>T (n.*149C>T)
c.334C>T (p.Leu112Phe)
c.655C>T (p.Leu219Phe)
3g.69949112T>ACA353561360MITFc.776T>A (p.Leu259His)
c.773T>A (p.Leu258His)
n.998T>A
c.749T>A (p.Leu250His)
c.824T>A (p.Leu275His)
c.503T>A (p.Leu168His)
c.821T>A (p.Leu274His)
c.668T>A (p.Leu223His)
c.*150T>A (n.*150T>A)
c.335T>A (p.Leu112His)
c.656T>A (p.Leu219His)
3g.69949112T>CCA353561361MITFc.776T>C (p.Leu259Pro)
c.773T>C (p.Leu258Pro)
n.998T>C
c.749T>C (p.Leu250Pro)
c.824T>C (p.Leu275Pro)
c.503T>C (p.Leu168Pro)
c.821T>C (p.Leu274Pro)
c.668T>C (p.Leu223Pro)
c.*150T>C (n.*150T>C)
c.335T>C (p.Leu112Pro)
c.656T>C (p.Leu219Pro)
3g.69949112T>GCA353561362MITFc.776T>G (p.Leu259Arg)
c.773T>G (p.Leu258Arg)
n.998T>G
c.749T>G (p.Leu250Arg)
c.824T>G (p.Leu275Arg)
c.503T>G (p.Leu168Arg)
c.821T>G (p.Leu274Arg)
c.668T>G (p.Leu223Arg)
c.*150T>G (n.*150T>G)
c.335T>G (p.Leu112Arg)
c.656T>G (p.Leu219Arg)
3g.69949112_69949124delinsTCACCATCAGCAACA1373440714MITFc.776_788delinsTCACCATCAGCAA (p.Leu259=)
c.773_785delinsTCACCATCAGCAA (p.Leu258=)
n.998_1010delinsTCACCATCAGCAA
c.749_761delinsTCACCATCAGCAA (p.Leu250=)
c.824_836delinsTCACCATCAGCAA (p.Leu275=)
c.503_515delinsTCACCATCAGCAA (p.Leu168=)
c.821_833delinsTCACCATCAGCAA (p.Leu274=)
c.668_680delinsTCACCATCAGCAA (p.Leu223=)
c.*150_*162delinsTCACCATCAGCAA (n.*150_*162delinsTCACCATCAGCAA)
c.335_347delinsTCACCATCAGCAA (p.Leu112=)
c.656_668delinsTCACCATCAGCAA (p.Leu219=)
3g.69949113C>ACA434305886MITFc.777C>A (p.Leu259=)
c.774C>A (p.Leu258=)
n.999C>A
c.750C>A (p.Leu250=)
c.825C>A (p.Leu275=)
c.504C>A (p.Leu168=)
c.822C>A (p.Leu274=)
c.669C>A (p.Leu223=)
c.*151C>A (n.*151C>A)
c.336C>A (p.Leu112=)
c.657C>A (p.Leu219=)
3g.69949113C=CA1373440716MITFc.777C= (p.Leu259=)
c.774C= (p.Leu258=)
n.999C=
c.750C= (p.Leu250=)
c.825C= (p.Leu275=)
c.504C= (p.Leu168=)
c.822C= (p.Leu274=)
c.669C= (p.Leu223=)
c.*151C= (n.*151C=)
c.336C= (p.Leu112=)
c.657C= (p.Leu219=)
3g.69949113C>GCA434305887MITFc.777C>G (p.Leu259=)
c.774C>G (p.Leu258=)
n.999C>G
c.750C>G (p.Leu250=)
c.825C>G (p.Leu275=)
c.504C>G (p.Leu168=)
c.822C>G (p.Leu274=)
c.669C>G (p.Leu223=)
c.*151C>G (n.*151C>G)
c.336C>G (p.Leu112=)
c.657C>G (p.Leu219=)
3g.69949113C>TCA434305888MITFc.777C>T (p.Leu259=)
c.774C>T (p.Leu258=)
n.999C>T
c.750C>T (p.Leu250=)
c.825C>T (p.Leu275=)
c.504C>T (p.Leu168=)
c.822C>T (p.Leu274=)
c.669C>T (p.Leu223=)
c.*151C>T (n.*151C>T)
c.336C>T (p.Leu112=)
c.657C>T (p.Leu219=)
 dbSNP
3g.69949114_69949125delCA543812494MITFc.778_789del (p.Thr260_Asn263del)
c.775_786del (p.Thr259_Asn262del)
n.1000_1011del
c.751_762del (p.Thr251_Asn254del)
c.826_837del (p.Thr276_Asn279del)
c.505_516del (p.Thr169_Asn172del)
c.823_834del (p.Thr275_Asn278del)
c.670_681del (p.Thr224_Asn227del)
c.*152_*163del (n.*152_*163del)
c.337_348del (p.Thr113_Asn116del)
c.658_669del (p.Thr220_Asn223del)
 dbSNP gnomAD v2 gnomAD v4
3g.69949114A>CCA353561363MITFc.778A>C (p.Thr260Pro)
c.775A>C (p.Thr259Pro)
n.1000A>C
c.751A>C (p.Thr251Pro)
c.826A>C (p.Thr276Pro)
c.505A>C (p.Thr169Pro)
c.823A>C (p.Thr275Pro)
c.670A>C (p.Thr224Pro)
c.*152A>C (n.*152A>C)
c.337A>C (p.Thr113Pro)
c.658A>C (p.Thr220Pro)
3g.69949114A>GCA353561364MITFc.778A>G (p.Thr260Ala)
c.775A>G (p.Thr259Ala)
n.1000A>G
c.751A>G (p.Thr251Ala)
c.826A>G (p.Thr276Ala)
c.505A>G (p.Thr169Ala)
c.823A>G (p.Thr275Ala)
c.670A>G (p.Thr224Ala)
c.*152A>G (n.*152A>G)
c.337A>G (p.Thr113Ala)
c.658A>G (p.Thr220Ala)
3g.69949114A>TCA353561365MITFc.778A>T (p.Thr260Ser)
c.775A>T (p.Thr259Ser)
n.1000A>T
c.751A>T (p.Thr251Ser)
c.826A>T (p.Thr276Ser)
c.505A>T (p.Thr169Ser)
c.823A>T (p.Thr275Ser)
c.670A>T (p.Thr224Ser)
c.*152A>T (n.*152A>T)
c.337A>T (p.Thr113Ser)
c.658A>T (p.Thr220Ser)
3g.69949115C>ACA353561366MITFc.779C>A (p.Thr260Asn)
c.776C>A (p.Thr259Asn)
n.1001C>A
c.752C>A (p.Thr251Asn)
c.827C>A (p.Thr276Asn)
c.506C>A (p.Thr169Asn)
c.824C>A (p.Thr275Asn)
c.671C>A (p.Thr224Asn)
c.*153C>A (n.*153C>A)
c.338C>A (p.Thr113Asn)
c.659C>A (p.Thr220Asn)
3g.69949115C>GCA353561367MITFc.779C>G (p.Thr260Ser)
c.776C>G (p.Thr259Ser)
n.1001C>G
c.752C>G (p.Thr251Ser)
c.827C>G (p.Thr276Ser)
c.506C>G (p.Thr169Ser)
c.824C>G (p.Thr275Ser)
c.671C>G (p.Thr224Ser)
c.*153C>G (n.*153C>G)
c.338C>G (p.Thr113Ser)
c.659C>G (p.Thr220Ser)
3g.69949115C>TCA353561368MITFc.779C>T (p.Thr260Ile)
c.776C>T (p.Thr259Ile)
n.1001C>T
c.752C>T (p.Thr251Ile)
c.827C>T (p.Thr276Ile)
c.506C>T (p.Thr169Ile)
c.824C>T (p.Thr275Ile)
c.671C>T (p.Thr224Ile)
c.*153C>T (n.*153C>T)
c.338C>T (p.Thr113Ile)
c.659C>T (p.Thr220Ile)
3g.69949116C>ACA2490483MITFc.780C>A (p.Thr260=)
c.777C>A (p.Thr259=)
n.1002C>A
c.753C>A (p.Thr251=)
c.828C>A (p.Thr276=)
c.507C>A (p.Thr169=)
c.825C>A (p.Thr275=)
c.672C>A (p.Thr224=)
c.*154C>A (n.*154C>A)
c.339C>A (p.Thr113=)
c.660C>A (p.Thr220=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69949116C=CA1373440719MITFc.780C= (p.Thr260=)
c.777C= (p.Thr259=)
n.1002C=
c.753C= (p.Thr251=)
c.828C= (p.Thr276=)
c.507C= (p.Thr169=)
c.825C= (p.Thr275=)
c.672C= (p.Thr224=)
c.*154C= (n.*154C=)
c.339C= (p.Thr113=)
c.660C= (p.Thr220=)
3g.69949116C>GCA434305889MITFc.780C>G (p.Thr260=)
c.777C>G (p.Thr259=)
n.1002C>G
c.753C>G (p.Thr251=)
c.828C>G (p.Thr276=)
c.507C>G (p.Thr169=)
c.825C>G (p.Thr275=)
c.672C>G (p.Thr224=)
c.*154C>G (n.*154C>G)
c.339C>G (p.Thr113=)
c.660C>G (p.Thr220=)
 gnomAD v4
3g.69949116C>TCA434305890MITFc.780C>T (p.Thr260=)
c.777C>T (p.Thr259=)
n.1002C>T
c.753C>T (p.Thr251=)
c.828C>T (p.Thr276=)
c.507C>T (p.Thr169=)
c.825C>T (p.Thr275=)
c.672C>T (p.Thr224=)
c.*154C>T (n.*154C>T)
c.339C>T (p.Thr113=)
c.660C>T (p.Thr220=)
 gnomAD v4
3g.69949117A=CA1373440722MITFc.781A= (p.Ile261=)
c.778A= (p.Ile260=)
n.1003A=
c.754A= (p.Ile252=)
c.829A= (p.Ile277=)
c.508A= (p.Ile170=)
c.826A= (p.Ile276=)
c.673A= (p.Ile225=)
c.*155A= (n.*155A=)
c.340A= (p.Ile114=)
c.661A= (p.Ile221=)
3g.69949117A>CCA353561369MITFc.781A>C (p.Ile261Leu)
c.778A>C (p.Ile260Leu)
n.1003A>C
c.754A>C (p.Ile252Leu)
c.829A>C (p.Ile277Leu)
c.508A>C (p.Ile170Leu)
c.826A>C (p.Ile276Leu)
c.673A>C (p.Ile225Leu)
c.*155A>C (n.*155A>C)
c.340A>C (p.Ile114Leu)
c.661A>C (p.Ile221Leu)
3g.69949117A>GCA2490484MITFc.781A>G (p.Ile261Val)
c.778A>G (p.Ile260Val)
n.1003A>G
c.754A>G (p.Ile252Val)
c.829A>G (p.Ile277Val)
c.508A>G (p.Ile170Val)
c.826A>G (p.Ile276Val)
c.673A>G (p.Ile225Val)
c.*155A>G (n.*155A>G)
c.340A>G (p.Ile114Val)
c.661A>G (p.Ile221Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.69949117A>TCA353561370MITFc.781A>T (p.Ile261Phe)
c.778A>T (p.Ile260Phe)
n.1003A>T
c.754A>T (p.Ile252Phe)
c.829A>T (p.Ile277Phe)
c.508A>T (p.Ile170Phe)
c.826A>T (p.Ile276Phe)
c.673A>T (p.Ile225Phe)
c.*155A>T (n.*155A>T)
c.340A>T (p.Ile114Phe)
c.661A>T (p.Ile221Phe)
3g.69949118T>ACA353561371MITFc.782T>A (p.Ile261Asn)
c.779T>A (p.Ile260Asn)
n.1004T>A
c.755T>A (p.Ile252Asn)
c.830T>A (p.Ile277Asn)
c.509T>A (p.Ile170Asn)
c.827T>A (p.Ile276Asn)
c.674T>A (p.Ile225Asn)
c.*156T>A (n.*156T>A)
c.341T>A (p.Ile114Asn)
c.662T>A (p.Ile221Asn)
3g.69949118T>CCA353561372MITFc.782T>C (p.Ile261Thr)
c.779T>C (p.Ile260Thr)
n.1004T>C
c.755T>C (p.Ile252Thr)
c.830T>C (p.Ile277Thr)
c.509T>C (p.Ile170Thr)
c.827T>C (p.Ile276Thr)
c.674T>C (p.Ile225Thr)
c.*156T>C (n.*156T>C)
c.341T>C (p.Ile114Thr)
c.662T>C (p.Ile221Thr)
3g.69949118T>GCA353561373MITFc.782T>G (p.Ile261Ser)
c.779T>G (p.Ile260Ser)
n.1004T>G
c.755T>G (p.Ile252Ser)
c.830T>G (p.Ile277Ser)
c.509T>G (p.Ile170Ser)
c.827T>G (p.Ile276Ser)
c.674T>G (p.Ile225Ser)
c.*156T>G (n.*156T>G)
c.341T>G (p.Ile114Ser)
c.662T>G (p.Ile221Ser)
 ClinVar dbSNP
3g.69949119C>ACA434305892MITFc.783C>A (p.Ile261=)
c.780C>A (p.Ile260=)
n.1005C>A
c.756C>A (p.Ile252=)
c.831C>A (p.Ile277=)
c.510C>A (p.Ile170=)
c.828C>A (p.Ile276=)
c.675C>A (p.Ile225=)
c.*157C>A (n.*157C>A)
c.342C>A (p.Ile114=)
c.663C>A (p.Ile221=)
3g.69949119C>GCA353561374MITFc.783C>G (p.Ile261Met)
c.780C>G (p.Ile260Met)
n.1005C>G
c.756C>G (p.Ile252Met)
c.831C>G (p.Ile277Met)
c.510C>G (p.Ile170Met)
c.828C>G (p.Ile276Met)
c.675C>G (p.Ile225Met)
c.*157C>G (n.*157C>G)
c.342C>G (p.Ile114Met)
c.663C>G (p.Ile221Met)
3g.69949119C>TCA434305891MITFc.783C>T (p.Ile261=)
c.780C>T (p.Ile260=)
n.1005C>T
c.756C>T (p.Ile252=)
c.831C>T (p.Ile277=)
c.510C>T (p.Ile170=)
c.828C>T (p.Ile276=)
c.675C>T (p.Ile225=)
c.*157C>T (n.*157C>T)
c.342C>T (p.Ile114=)
c.663C>T (p.Ile221=)
3g.69949120A>CCA353561375MITFc.784A>C (p.Ser262Arg)
c.781A>C (p.Ser261Arg)
n.1006A>C
c.757A>C (p.Ser253Arg)
c.832A>C (p.Ser278Arg)
c.511A>C (p.Ser171Arg)
c.829A>C (p.Ser277Arg)
c.676A>C (p.Ser226Arg)
c.*158A>C (n.*158A>C)
c.343A>C (p.Ser115Arg)
c.664A>C (p.Ser222Arg)
3g.69949120A>GCA353561376MITFc.784A>G (p.Ser262Gly)
c.781A>G (p.Ser261Gly)
n.1006A>G
c.757A>G (p.Ser253Gly)
c.832A>G (p.Ser278Gly)
c.511A>G (p.Ser171Gly)
c.829A>G (p.Ser277Gly)
c.676A>G (p.Ser226Gly)
c.*158A>G (n.*158A>G)
c.343A>G (p.Ser115Gly)
c.664A>G (p.Ser222Gly)
3g.69949120A>TCA353561377MITFc.784A>T (p.Ser262Cys)
c.781A>T (p.Ser261Cys)
n.1006A>T
c.757A>T (p.Ser253Cys)
c.832A>T (p.Ser278Cys)
c.511A>T (p.Ser171Cys)
c.829A>T (p.Ser277Cys)
c.676A>T (p.Ser226Cys)
c.*158A>T (n.*158A>T)
c.343A>T (p.Ser115Cys)
c.664A>T (p.Ser222Cys)
3g.69949121G>ACA353561378MITFc.785G>A (p.Ser262Asn)
c.782G>A (p.Ser261Asn)
n.1007G>A
c.758G>A (p.Ser253Asn)
c.833G>A (p.Ser278Asn)
c.512G>A (p.Ser171Asn)
c.830G>A (p.Ser277Asn)
c.677G>A (p.Ser226Asn)
c.*159G>A (n.*159G>A)
c.344G>A (p.Ser115Asn)
c.665G>A (p.Ser222Asn)
 dbSNP
3g.69949121G>CCA353561379MITFc.785G>C (p.Ser262Thr)
c.782G>C (p.Ser261Thr)
n.1007G>C
c.758G>C (p.Ser253Thr)
c.833G>C (p.Ser278Thr)
c.512G>C (p.Ser171Thr)
c.830G>C (p.Ser277Thr)
c.677G>C (p.Ser226Thr)
c.*159G>C (n.*159G>C)
c.344G>C (p.Ser115Thr)
c.665G>C (p.Ser222Thr)
3g.69949121G=CA1373440726MITFc.785G= (p.Ser262=)
c.782G= (p.Ser261=)
n.1007G=
c.758G= (p.Ser253=)
c.833G= (p.Ser278=)
c.512G= (p.Ser171=)
c.830G= (p.Ser277=)
c.677G= (p.Ser226=)
c.*159G= (n.*159G=)
c.344G= (p.Ser115=)
c.665G= (p.Ser222=)
3g.69949121G>TCA353561380MITFc.785G>T (p.Ser262Ile)
c.782G>T (p.Ser261Ile)
n.1007G>T
c.758G>T (p.Ser253Ile)
c.833G>T (p.Ser278Ile)
c.512G>T (p.Ser171Ile)
c.830G>T (p.Ser277Ile)
c.677G>T (p.Ser226Ile)
c.*159G>T (n.*159G>T)
c.344G>T (p.Ser115Ile)
c.665G>T (p.Ser222Ile)
3g.69949122C>ACA353561381MITFc.786C>A (p.Ser262Arg)
c.783C>A (p.Ser261Arg)
n.1008C>A
c.759C>A (p.Ser253Arg)
c.834C>A (p.Ser278Arg)
c.513C>A (p.Ser171Arg)
c.831C>A (p.Ser277Arg)
c.678C>A (p.Ser226Arg)
c.*160C>A (n.*160C>A)
c.345C>A (p.Ser115Arg)
c.666C>A (p.Ser222Arg)
 dbSNP gnomAD v2
3g.69949122C=CA1373440728MITFc.786C= (p.Ser262=)
c.783C= (p.Ser261=)
n.1008C=
c.759C= (p.Ser253=)
c.834C= (p.Ser278=)
c.513C= (p.Ser171=)
c.831C= (p.Ser277=)
c.678C= (p.Ser226=)
c.*160C= (n.*160C=)
c.345C= (p.Ser115=)
c.666C= (p.Ser222=)
3g.69949122C>GCA353561382MITFc.786C>G (p.Ser262Arg)
c.783C>G (p.Ser261Arg)
n.1008C>G
c.759C>G (p.Ser253Arg)
c.834C>G (p.Ser278Arg)
c.513C>G (p.Ser171Arg)
c.831C>G (p.Ser277Arg)
c.678C>G (p.Ser226Arg)
c.*160C>G (n.*160C>G)
c.345C>G (p.Ser115Arg)
c.666C>G (p.Ser222Arg)
3g.69949122C>TCA434305893MITFc.786C>T (p.Ser262=)
c.783C>T (p.Ser261=)
n.1008C>T
c.759C>T (p.Ser253=)
c.834C>T (p.Ser278=)
c.513C>T (p.Ser171=)
c.831C>T (p.Ser277=)
c.678C>T (p.Ser226=)
c.*160C>T (n.*160C>T)
c.345C>T (p.Ser115=)
c.666C>T (p.Ser222=)
3g.69949123A>CCA353561383MITFc.787A>C (p.Asn263His)
c.784A>C (p.Asn262His)
n.1009A>C
c.760A>C (p.Asn254His)
c.835A>C (p.Asn279His)
c.514A>C (p.Asn172His)
c.832A>C (p.Asn278His)
c.679A>C (p.Asn227His)
c.*161A>C (n.*161A>C)
c.346A>C (p.Asn116His)
c.667A>C (p.Asn223His)
3g.69949123A>GCA353561384MITFc.787A>G (p.Asn263Asp)
c.784A>G (p.Asn262Asp)
n.1009A>G
c.760A>G (p.Asn254Asp)
c.835A>G (p.Asn279Asp)
c.514A>G (p.Asn172Asp)
c.832A>G (p.Asn278Asp)
c.679A>G (p.Asn227Asp)
c.*161A>G (n.*161A>G)
c.346A>G (p.Asn116Asp)
c.667A>G (p.Asn223Asp)
3g.69949123A>TCA353561385MITFc.787A>T (p.Asn263Tyr)
c.784A>T (p.Asn262Tyr)
n.1009A>T
c.760A>T (p.Asn254Tyr)
c.835A>T (p.Asn279Tyr)
c.514A>T (p.Asn172Tyr)
c.832A>T (p.Asn278Tyr)
c.679A>T (p.Asn227Tyr)
c.*161A>T (n.*161A>T)
c.346A>T (p.Asn116Tyr)
c.667A>T (p.Asn223Tyr)
3g.69949124A=CA1373440731MITFc.788A= (p.Asn263=)
c.785A= (p.Asn262=)
n.1010A=
c.761A= (p.Asn254=)
c.836A= (p.Asn279=)
c.515A= (p.Asn172=)
c.833A= (p.Asn278=)
c.680A= (p.Asn227=)
c.*162A= (n.*162A=)
c.347A= (p.Asn116=)
c.668A= (p.Asn223=)
3g.69949124A>CCA353561386MITFc.788A>C (p.Asn263Thr)
c.785A>C (p.Asn262Thr)
n.1010A>C
c.761A>C (p.Asn254Thr)
c.836A>C (p.Asn279Thr)
c.515A>C (p.Asn172Thr)
c.833A>C (p.Asn278Thr)
c.680A>C (p.Asn227Thr)
c.*162A>C (n.*162A>C)
c.347A>C (p.Asn116Thr)
c.668A>C (p.Asn223Thr)
3g.69949124A>GCA2490485MITFc.788A>G (p.Asn263Ser)
c.785A>G (p.Asn262Ser)
n.1010A>G
c.761A>G (p.Asn254Ser)
c.836A>G (p.Asn279Ser)
c.515A>G (p.Asn172Ser)
c.833A>G (p.Asn278Ser)
c.680A>G (p.Asn227Ser)
c.*162A>G (n.*162A>G)
c.347A>G (p.Asn116Ser)
c.668A>G (p.Asn223Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69949124A>TCA353561387MITFc.788A>T (p.Asn263Ile)
c.785A>T (p.Asn262Ile)
n.1010A>T
c.761A>T (p.Asn254Ile)
c.836A>T (p.Asn279Ile)
c.515A>T (p.Asn172Ile)
c.833A>T (p.Asn278Ile)
c.680A>T (p.Asn227Ile)
c.*162A>T (n.*162A>T)
c.347A>T (p.Asn116Ile)
c.668A>T (p.Asn223Ile)
3g.69949125C>ACA353561389MITFc.789C>A (p.Asn263Lys)
c.786C>A (p.Asn262Lys)
n.1011C>A
c.762C>A (p.Asn254Lys)
c.837C>A (p.Asn279Lys)
c.516C>A (p.Asn172Lys)
c.834C>A (p.Asn278Lys)
c.681C>A (p.Asn227Lys)
c.*163C>A (n.*163C>A)
c.348C>A (p.Asn116Lys)
c.669C>A (p.Asn223Lys)
 ClinVar
3g.69949125C>GCA353561388MITFc.789C>G (p.Asn263Lys)
c.786C>G (p.Asn262Lys)
n.1011C>G
c.762C>G (p.Asn254Lys)
c.837C>G (p.Asn279Lys)
c.516C>G (p.Asn172Lys)
c.834C>G (p.Asn278Lys)
c.681C>G (p.Asn227Lys)
c.*163C>G (n.*163C>G)
c.348C>G (p.Asn116Lys)
c.669C>G (p.Asn223Lys)
3g.69949125C>TCA434305894MITFc.789C>T (p.Asn263=)
c.786C>T (p.Asn262=)
n.1011C>T
c.762C>T (p.Asn254=)
c.837C>T (p.Asn279=)
c.516C>T (p.Asn172=)
c.834C>T (p.Asn278=)
c.681C>T (p.Asn227=)
c.*163C>T (n.*163C>T)
c.348C>T (p.Asn116=)
c.669C>T (p.Asn223=)
 dbSNP gnomAD v4
3g.69949126T>ACA353561390MITFc.790T>A (p.Ser264Thr)
c.787T>A (p.Ser263Thr)
n.1012T>A
c.763T>A (p.Ser255Thr)
c.838T>A (p.Ser280Thr)
c.517T>A (p.Ser173Thr)
c.835T>A (p.Ser279Thr)
c.682T>A (p.Ser228Thr)
c.*164T>A (n.*164T>A)
c.349T>A (p.Ser117Thr)
c.670T>A (p.Ser224Thr)
 dbSNP gnomAD v2
3g.69949126T>CCA353561391MITFc.790T>C (p.Ser264Pro)
c.787T>C (p.Ser263Pro)
n.1012T>C
c.763T>C (p.Ser255Pro)
c.838T>C (p.Ser280Pro)
c.517T>C (p.Ser173Pro)
c.835T>C (p.Ser279Pro)
c.682T>C (p.Ser228Pro)
c.*164T>C (n.*164T>C)
c.349T>C (p.Ser117Pro)
c.670T>C (p.Ser224Pro)
3g.69949126T>GCA353561392MITFc.790T>G (p.Ser264Ala)
c.787T>G (p.Ser263Ala)
n.1012T>G
c.763T>G (p.Ser255Ala)
c.838T>G (p.Ser280Ala)
c.517T>G (p.Ser173Ala)
c.835T>G (p.Ser279Ala)
c.682T>G (p.Ser228Ala)
c.*164T>G (n.*164T>G)
c.349T>G (p.Ser117Ala)
c.670T>G (p.Ser224Ala)
3g.69949126T=CA1373440735MITFc.790T= (p.Ser264=)
c.787T= (p.Ser263=)
n.1012T=
c.763T= (p.Ser255=)
c.838T= (p.Ser280=)
c.517T= (p.Ser173=)
c.835T= (p.Ser279=)
c.682T= (p.Ser228=)
c.*164T= (n.*164T=)
c.349T= (p.Ser117=)
c.670T= (p.Ser224=)
3g.69949127C>ACA353561393MITFc.791C>A (p.Ser264Tyr)
c.788C>A (p.Ser263Tyr)
n.1013C>A
c.764C>A (p.Ser255Tyr)
c.839C>A (p.Ser280Tyr)
c.518C>A (p.Ser173Tyr)
c.836C>A (p.Ser279Tyr)
c.683C>A (p.Ser228Tyr)
c.*165C>A (n.*165C>A)
c.350C>A (p.Ser117Tyr)
c.671C>A (p.Ser224Tyr)
3g.69949127C>GCA353561394MITFc.791C>G (p.Ser264Cys)
c.788C>G (p.Ser263Cys)
n.1013C>G
c.764C>G (p.Ser255Cys)
c.839C>G (p.Ser280Cys)
c.518C>G (p.Ser173Cys)
c.836C>G (p.Ser279Cys)
c.683C>G (p.Ser228Cys)
c.*165C>G (n.*165C>G)
c.350C>G (p.Ser117Cys)
c.671C>G (p.Ser224Cys)
 gnomAD v4
3g.69949127C>TCA353561395MITFc.791C>T (p.Ser264Phe)
c.788C>T (p.Ser263Phe)
n.1013C>T
c.764C>T (p.Ser255Phe)
c.839C>T (p.Ser280Phe)
c.518C>T (p.Ser173Phe)
c.836C>T (p.Ser279Phe)
c.683C>T (p.Ser228Phe)
c.*165C>T (n.*165C>T)
c.350C>T (p.Ser117Phe)
c.671C>T (p.Ser224Phe)
3g.69949128C>ACA434305895MITFc.792C>A (p.Ser264=)
c.789C>A (p.Ser263=)
n.1014C>A
c.765C>A (p.Ser255=)
c.840C>A (p.Ser280=)
c.519C>A (p.Ser173=)
c.837C>A (p.Ser279=)
c.684C>A (p.Ser228=)
c.*166C>A (n.*166C>A)
c.351C>A (p.Ser117=)
c.672C>A (p.Ser224=)
3g.69949128C>GCA434305896MITFc.792C>G (p.Ser264=)
c.789C>G (p.Ser263=)
n.1014C>G
c.765C>G (p.Ser255=)
c.840C>G (p.Ser280=)
c.519C>G (p.Ser173=)
c.837C>G (p.Ser279=)
c.684C>G (p.Ser228=)
c.*166C>G (n.*166C>G)
c.351C>G (p.Ser117=)
c.672C>G (p.Ser224=)
3g.69949128C>TCA434305897MITFc.792C>T (p.Ser264=)
c.789C>T (p.Ser263=)
n.1014C>T
c.765C>T (p.Ser255=)
c.840C>T (p.Ser280=)
c.519C>T (p.Ser173=)
c.837C>T (p.Ser279=)
c.684C>T (p.Ser228=)
c.*166C>T (n.*166C>T)
c.351C>T (p.Ser117=)
c.672C>T (p.Ser224=)
3g.69949129T>ACA353561396MITFc.793T>A (p.Cys265Ser)
c.790T>A (p.Cys264Ser)
n.1015T>A
c.766T>A (p.Cys256Ser)
c.841T>A (p.Cys281Ser)
c.520T>A (p.Cys174Ser)
c.838T>A (p.Cys280Ser)
c.685T>A (p.Cys229Ser)
c.*167T>A (n.*167T>A)
c.352T>A (p.Cys118Ser)
c.673T>A (p.Cys225Ser)
3g.69949129T>CCA353561398MITFc.793T>C (p.Cys265Arg)
c.790T>C (p.Cys264Arg)
n.1015T>C
c.766T>C (p.Cys256Arg)
c.841T>C (p.Cys281Arg)
c.520T>C (p.Cys174Arg)
c.838T>C (p.Cys280Arg)
c.685T>C (p.Cys229Arg)
c.*167T>C (n.*167T>C)
c.352T>C (p.Cys118Arg)
c.673T>C (p.Cys225Arg)
 gnomAD v4
3g.69949129T>GCA353561397MITFc.793T>G (p.Cys265Gly)
c.790T>G (p.Cys264Gly)
n.1015T>G
c.766T>G (p.Cys256Gly)
c.841T>G (p.Cys281Gly)
c.520T>G (p.Cys174Gly)
c.838T>G (p.Cys280Gly)
c.685T>G (p.Cys229Gly)
c.*167T>G (n.*167T>G)
c.352T>G (p.Cys118Gly)
c.673T>G (p.Cys225Gly)
3g.69949130G>ACA353561399MITFc.794G>A (p.Cys265Tyr)
c.791G>A (p.Cys264Tyr)
n.1016G>A
c.767G>A (p.Cys256Tyr)
c.842G>A (p.Cys281Tyr)
c.521G>A (p.Cys174Tyr)
c.839G>A (p.Cys280Tyr)
c.686G>A (p.Cys229Tyr)
c.*168G>A (n.*168G>A)
c.353G>A (p.Cys118Tyr)
c.674G>A (p.Cys225Tyr)
3g.69949130G>CCA353561400MITFc.794G>C (p.Cys265Ser)
c.791G>C (p.Cys264Ser)
n.1016G>C
c.767G>C (p.Cys256Ser)
c.842G>C (p.Cys281Ser)
c.521G>C (p.Cys174Ser)
c.839G>C (p.Cys280Ser)
c.686G>C (p.Cys229Ser)
c.*168G>C (n.*168G>C)
c.353G>C (p.Cys118Ser)
c.674G>C (p.Cys225Ser)
3g.69949130G=CA1373440738MITFc.794G= (p.Cys265=)
c.791G= (p.Cys264=)
n.1016G=
c.767G= (p.Cys256=)
c.842G= (p.Cys281=)
c.521G= (p.Cys174=)
c.839G= (p.Cys280=)
c.686G= (p.Cys229=)
c.*168G= (n.*168G=)
c.353G= (p.Cys118=)
c.674G= (p.Cys225=)
3g.69949130G>TCA353561401MITFc.794G>T (p.Cys265Phe)
c.791G>T (p.Cys264Phe)
n.1016G>T
c.767G>T (p.Cys256Phe)
c.842G>T (p.Cys281Phe)
c.521G>T (p.Cys174Phe)
c.839G>T (p.Cys280Phe)
c.686G>T (p.Cys229Phe)
c.*168G>T (n.*168G>T)
c.353G>T (p.Cys118Phe)
c.674G>T (p.Cys225Phe)
 dbSNP gnomAD v2 gnomAD v4
3g.69949131T>ACA353561402MITFc.795T>A (p.Cys265Ter)
c.792T>A (p.Cys264Ter)
n.1017T>A
c.768T>A (p.Cys256Ter)
c.843T>A (p.Cys281Ter)
c.522T>A (p.Cys174Ter)
c.840T>A (p.Cys280Ter)
c.687T>A (p.Cys229Ter)
c.*169T>A (n.*169T>A)
c.354T>A (p.Cys118Ter)
c.675T>A (p.Cys225Ter)
3g.69949131T>CCA434305898MITFc.795T>C (p.Cys265=)
c.792T>C (p.Cys264=)
n.1017T>C
c.768T>C (p.Cys256=)
c.843T>C (p.Cys281=)
c.522T>C (p.Cys174=)
c.840T>C (p.Cys280=)
c.687T>C (p.Cys229=)
c.*169T>C (n.*169T>C)
c.354T>C (p.Cys118=)
c.675T>C (p.Cys225=)
3g.69949131T>GCA353561403MITFc.795T>G (p.Cys265Trp)
c.792T>G (p.Cys264Trp)
n.1017T>G
c.768T>G (p.Cys256Trp)
c.843T>G (p.Cys281Trp)
c.522T>G (p.Cys174Trp)
c.840T>G (p.Cys280Trp)
c.687T>G (p.Cys229Trp)
c.*169T>G (n.*169T>G)
c.354T>G (p.Cys118Trp)
c.675T>G (p.Cys225Trp)
3g.69949132C>ACA353561404MITFc.796C>A (p.Pro266Thr)
c.793C>A (p.Pro265Thr)
n.1018C>A
c.769C>A (p.Pro257Thr)
c.844C>A (p.Pro282Thr)
c.523C>A (p.Pro175Thr)
c.841C>A (p.Pro281Thr)
c.688C>A (p.Pro230Thr)
c.*170C>A (n.*170C>A)
c.355C>A (p.Pro119Thr)
c.676C>A (p.Pro226Thr)
 gnomAD v4
3g.69949132C>GCA353561405MITFc.796C>G (p.Pro266Ala)
c.793C>G (p.Pro265Ala)
n.1018C>G
c.769C>G (p.Pro257Ala)
c.844C>G (p.Pro282Ala)
c.523C>G (p.Pro175Ala)
c.841C>G (p.Pro281Ala)
c.688C>G (p.Pro230Ala)
c.*170C>G (n.*170C>G)
c.355C>G (p.Pro119Ala)
c.676C>G (p.Pro226Ala)
3g.69949132C>TCA353561406MITFc.796C>T (p.Pro266Ser)
c.793C>T (p.Pro265Ser)
n.1018C>T
c.769C>T (p.Pro257Ser)
c.844C>T (p.Pro282Ser)
c.523C>T (p.Pro175Ser)
c.841C>T (p.Pro281Ser)
c.688C>T (p.Pro230Ser)
c.*170C>T (n.*170C>T)
c.355C>T (p.Pro119Ser)
c.676C>T (p.Pro226Ser)
3g.69949133C>ACA353561407MITFc.797C>A (p.Pro266Gln)
c.794C>A (p.Pro265Gln)
n.1019C>A
c.770C>A (p.Pro257Gln)
c.845C>A (p.Pro282Gln)
c.524C>A (p.Pro175Gln)
c.842C>A (p.Pro281Gln)
c.689C>A (p.Pro230Gln)
c.*171C>A (n.*171C>A)
c.356C>A (p.Pro119Gln)
c.677C>A (p.Pro226Gln)
3g.69949133C>GCA353561408MITFc.797C>G (p.Pro266Arg)
c.794C>G (p.Pro265Arg)
n.1019C>G
c.770C>G (p.Pro257Arg)
c.845C>G (p.Pro282Arg)
c.524C>G (p.Pro175Arg)
c.842C>G (p.Pro281Arg)
c.689C>G (p.Pro230Arg)
c.*171C>G (n.*171C>G)
c.356C>G (p.Pro119Arg)
c.677C>G (p.Pro226Arg)
3g.69949133C>TCA353561409MITFc.797C>T (p.Pro266Leu)
c.794C>T (p.Pro265Leu)
n.1019C>T
c.770C>T (p.Pro257Leu)
c.845C>T (p.Pro282Leu)
c.524C>T (p.Pro175Leu)
c.842C>T (p.Pro281Leu)
c.689C>T (p.Pro230Leu)
c.*171C>T (n.*171C>T)
c.356C>T (p.Pro119Leu)
c.677C>T (p.Pro226Leu)
 dbSNP
3g.69949134A=CA1373440741MITFc.798A= (p.Pro266=)
c.795A= (p.Pro265=)
n.1020A=
c.771A= (p.Pro257=)
c.846A= (p.Pro282=)
c.525A= (p.Pro175=)
c.843A= (p.Pro281=)
c.690A= (p.Pro230=)
c.*172A= (n.*172A=)
c.357A= (p.Pro119=)
c.678A= (p.Pro226=)
3g.69949134A>CCA434305899MITFc.798A>C (p.Pro266=)
c.795A>C (p.Pro265=)
n.1020A>C
c.771A>C (p.Pro257=)
c.846A>C (p.Pro282=)
c.525A>C (p.Pro175=)
c.843A>C (p.Pro281=)
c.690A>C (p.Pro230=)
c.*172A>C (n.*172A>C)
c.357A>C (p.Pro119=)
c.678A>C (p.Pro226=)
3g.69949134A>GCA2490486MITFc.798A>G (p.Pro266=)
c.795A>G (p.Pro265=)
n.1020A>G
c.771A>G (p.Pro257=)
c.846A>G (p.Pro282=)
c.525A>G (p.Pro175=)
c.843A>G (p.Pro281=)
c.690A>G (p.Pro230=)
c.*172A>G (n.*172A>G)
c.357A>G (p.Pro119=)
c.678A>G (p.Pro226=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
3g.69949134A>TCA434305900MITFc.798A>T (p.Pro266=)
c.795A>T (p.Pro265=)
n.1020A>T
c.771A>T (p.Pro257=)
c.846A>T (p.Pro282=)
c.525A>T (p.Pro175=)
c.843A>T (p.Pro281=)
c.690A>T (p.Pro230=)
c.*172A>T (n.*172A>T)
c.357A>T (p.Pro119=)
c.678A>T (p.Pro226=)
3g.69949135G>ACA353561411MITFc.799G>A (p.Ala267Thr)
c.796G>A (p.Ala266Thr)
n.1021G>A
c.772G>A (p.Ala258Thr)
c.847G>A (p.Ala283Thr)
c.526G>A (p.Ala176Thr)
c.844G>A (p.Ala282Thr)
c.691G>A (p.Ala231Thr)
c.*173G>A (n.*173G>A)
c.358G>A (p.Ala120Thr)
c.679G>A (p.Ala227Thr)
 dbSNP
3g.69949135G>CCA2490487MITFc.799G>C (p.Ala267Pro)
c.796G>C (p.Ala266Pro)
n.1021G>C
c.772G>C (p.Ala258Pro)
c.847G>C (p.Ala283Pro)
c.526G>C (p.Ala176Pro)
c.844G>C (p.Ala282Pro)
c.691G>C (p.Ala231Pro)
c.*173G>C (n.*173G>C)
c.358G>C (p.Ala120Pro)
c.679G>C (p.Ala227Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.69949135G=CA1373440746MITFc.799G= (p.Ala267=)
c.796G= (p.Ala266=)
n.1021G=
c.772G= (p.Ala258=)
c.847G= (p.Ala283=)
c.526G= (p.Ala176=)
c.844G= (p.Ala282=)
c.691G= (p.Ala231=)
c.*173G= (n.*173G=)
c.358G= (p.Ala120=)
c.679G= (p.Ala227=)
3g.69949135G>TCA353561410MITFc.799G>T (p.Ala267Ser)
c.796G>T (p.Ala266Ser)
n.1021G>T
c.772G>T (p.Ala258Ser)
c.847G>T (p.Ala283Ser)
c.526G>T (p.Ala176Ser)
c.844G>T (p.Ala282Ser)
c.691G>T (p.Ala231Ser)
c.*173G>T (n.*173G>T)
c.358G>T (p.Ala120Ser)
c.679G>T (p.Ala227Ser)
3g.69949136C>ACA353561413MITFc.800C>A (p.Ala267Asp)
c.797C>A (p.Ala266Asp)
n.1022C>A
c.773C>A (p.Ala258Asp)
c.848C>A (p.Ala283Asp)
c.527C>A (p.Ala176Asp)
c.845C>A (p.Ala282Asp)
c.692C>A (p.Ala231Asp)
c.*174C>A (n.*174C>A)
c.359C>A (p.Ala120Asp)
c.680C>A (p.Ala227Asp)
3g.69949136C>GCA353561412MITFc.800C>G (p.Ala267Gly)
c.797C>G (p.Ala266Gly)
n.1022C>G
c.773C>G (p.Ala258Gly)
c.848C>G (p.Ala283Gly)
c.527C>G (p.Ala176Gly)
c.845C>G (p.Ala282Gly)
c.692C>G (p.Ala231Gly)
c.*174C>G (n.*174C>G)
c.359C>G (p.Ala120Gly)
c.680C>G (p.Ala227Gly)
3g.69949136C>TCA353561414MITFc.800C>T (p.Ala267Val)
c.797C>T (p.Ala266Val)
n.1022C>T
c.773C>T (p.Ala258Val)
c.848C>T (p.Ala283Val)
c.527C>T (p.Ala176Val)
c.845C>T (p.Ala282Val)
c.692C>T (p.Ala231Val)
c.*174C>T (n.*174C>T)
c.359C>T (p.Ala120Val)
c.680C>T (p.Ala227Val)
 dbSNP
3g.69949137C>ACA434305901MITFc.801C>A (p.Ala267=)
c.798C>A (p.Ala266=)
n.1023C>A
c.774C>A (p.Ala258=)
c.849C>A (p.Ala283=)
c.528C>A (p.Ala176=)
c.846C>A (p.Ala282=)
c.693C>A (p.Ala231=)
c.*175C>A (n.*175C>A)
c.360C>A (p.Ala120=)
c.681C>A (p.Ala227=)
 dbSNP
3g.69949137C=CA1373440749MITFc.801C= (p.Ala267=)
c.798C= (p.Ala266=)
n.1023C=
c.774C= (p.Ala258=)
c.849C= (p.Ala283=)
c.528C= (p.Ala176=)
c.846C= (p.Ala282=)
c.693C= (p.Ala231=)
c.*175C= (n.*175C=)
c.360C= (p.Ala120=)
c.681C= (p.Ala227=)
3g.69949137C>GCA434305902MITFc.801C>G (p.Ala267=)
c.798C>G (p.Ala266=)
n.1023C>G
c.774C>G (p.Ala258=)
c.849C>G (p.Ala283=)
c.528C>G (p.Ala176=)
c.846C>G (p.Ala282=)
c.693C>G (p.Ala231=)
c.*175C>G (n.*175C>G)
c.360C>G (p.Ala120=)
c.681C>G (p.Ala227=)
3g.69949137C>TCA434305903MITFc.801C>T (p.Ala267=)
c.798C>T (p.Ala266=)
n.1023C>T
c.774C>T (p.Ala258=)
c.849C>T (p.Ala283=)
c.528C>T (p.Ala176=)
c.846C>T (p.Ala282=)
c.693C>T (p.Ala231=)
c.*175C>T (n.*175C>T)
c.360C>T (p.Ala120=)
c.681C>T (p.Ala227=)
3g.69949138A>CCA353561415MITFc.802A>C (p.Asn268His)
c.799A>C (p.Asn267His)
n.1024A>C
c.775A>C (p.Asn259His)
c.850A>C (p.Asn284His)
c.529A>C (p.Asn177His)
c.847A>C (p.Asn283His)
c.694A>C (p.Asn232His)
c.*176A>C (n.*176A>C)
c.361A>C (p.Asn121His)
c.682A>C (p.Asn228His)
 ClinVar
3g.69949138A>GCA353561417MITFc.802A>G (p.Asn268Asp)
c.799A>G (p.Asn267Asp)
n.1024A>G
c.775A>G (p.Asn259Asp)
c.850A>G (p.Asn284Asp)
c.529A>G (p.Asn177Asp)
c.847A>G (p.Asn283Asp)
c.694A>G (p.Asn232Asp)
c.*176A>G (n.*176A>G)
c.361A>G (p.Asn121Asp)
c.682A>G (p.Asn228Asp)
3g.69949138A>TCA353561416MITFc.802A>T (p.Asn268Tyr)
c.799A>T (p.Asn267Tyr)
n.1024A>T
c.775A>T (p.Asn259Tyr)
c.850A>T (p.Asn284Tyr)
c.529A>T (p.Asn177Tyr)
c.847A>T (p.Asn283Tyr)
c.694A>T (p.Asn232Tyr)
c.*176A>T (n.*176A>T)
c.361A>T (p.Asn121Tyr)
c.682A>T (p.Asn228Tyr)
3g.69949139A=CA1373440754MITFc.803A= (p.Asn268=)
c.800A= (p.Asn267=)
n.1025A=
c.776A= (p.Asn259=)
c.851A= (p.Asn284=)
c.530A= (p.Asn177=)
c.848A= (p.Asn283=)
c.695A= (p.Asn232=)
c.*177A= (n.*177A=)
c.362A= (p.Asn121=)
c.683A= (p.Asn228=)
3g.69949139A>CCA353561418MITFc.803A>C (p.Asn268Thr)
c.800A>C (p.Asn267Thr)
n.1025A>C
c.776A>C (p.Asn259Thr)
c.851A>C (p.Asn284Thr)
c.530A>C (p.Asn177Thr)
c.848A>C (p.Asn283Thr)
c.695A>C (p.Asn232Thr)
c.*177A>C (n.*177A>C)
c.362A>C (p.Asn121Thr)
c.683A>C (p.Asn228Thr)
 ClinVar dbSNP
3g.69949139A>GCA353561420MITFc.803A>G (p.Asn268Ser)
c.800A>G (p.Asn267Ser)
n.1025A>G
c.776A>G (p.Asn259Ser)
c.851A>G (p.Asn284Ser)
c.530A>G (p.Asn177Ser)
c.848A>G (p.Asn283Ser)
c.695A>G (p.Asn232Ser)
c.*177A>G (n.*177A>G)
c.362A>G (p.Asn121Ser)
c.683A>G (p.Asn228Ser)
3g.69949139A>TCA353561419MITFc.803A>T (p.Asn268Ile)
c.800A>T (p.Asn267Ile)
n.1025A>T
c.776A>T (p.Asn259Ile)
c.851A>T (p.Asn284Ile)
c.530A>T (p.Asn177Ile)
c.848A>T (p.Asn283Ile)
c.695A>T (p.Asn232Ile)
c.*177A>T (n.*177A>T)
c.362A>T (p.Asn121Ile)
c.683A>T (p.Asn228Ile)
3g.69949140C>ACA353561421MITFc.804C>A (p.Asn268Lys)
c.801C>A (p.Asn267Lys)
n.1026C>A
c.777C>A (p.Asn259Lys)
c.852C>A (p.Asn284Lys)
c.531C>A (p.Asn177Lys)
c.849C>A (p.Asn283Lys)
c.696C>A (p.Asn232Lys)
c.*178C>A (n.*178C>A)
c.363C>A (p.Asn121Lys)
c.684C>A (p.Asn228Lys)
3g.69949140C>GCA353561422MITFc.804C>G (p.Asn268Lys)
c.801C>G (p.Asn267Lys)
n.1026C>G
c.777C>G (p.Asn259Lys)
c.852C>G (p.Asn284Lys)
c.531C>G (p.Asn177Lys)
c.849C>G (p.Asn283Lys)
c.696C>G (p.Asn232Lys)
c.*178C>G (n.*178C>G)
c.363C>G (p.Asn121Lys)
c.684C>G (p.Asn228Lys)
3g.69949140C>TCA434305904MITFc.804C>T (p.Asn268=)
c.801C>T (p.Asn267=)
n.1026C>T
c.777C>T (p.Asn259=)
c.852C>T (p.Asn284=)
c.531C>T (p.Asn177=)
c.849C>T (p.Asn283=)
c.696C>T (p.Asn232=)
c.*178C>T (n.*178C>T)
c.363C>T (p.Asn121=)
c.684C>T (p.Asn228=)
3g.69949141C>ACA353561423MITFc.805C>A (p.Leu269Ile)
c.802C>A (p.Leu268Ile)
n.1027C>A
c.778C>A (p.Leu260Ile)
c.853C>A (p.Leu285Ile)
c.532C>A (p.Leu178Ile)
c.850C>A (p.Leu284Ile)
c.697C>A (p.Leu233Ile)
c.*179C>A (n.*179C>A)
c.364C>A (p.Leu122Ile)
c.685C>A (p.Leu229Ile)
3g.69949141C>GCA353561424MITFc.805C>G (p.Leu269Val)
c.802C>G (p.Leu268Val)
n.1027C>G
c.778C>G (p.Leu260Val)
c.853C>G (p.Leu285Val)
c.532C>G (p.Leu178Val)
c.850C>G (p.Leu284Val)
c.697C>G (p.Leu233Val)
c.*179C>G (n.*179C>G)
c.364C>G (p.Leu122Val)
c.685C>G (p.Leu229Val)
3g.69949141C>TCA353561425MITFc.805C>T (p.Leu269Phe)
c.802C>T (p.Leu268Phe)
n.1027C>T
c.778C>T (p.Leu260Phe)
c.853C>T (p.Leu285Phe)
c.532C>T (p.Leu178Phe)
c.850C>T (p.Leu284Phe)
c.697C>T (p.Leu233Phe)
c.*179C>T (n.*179C>T)
c.364C>T (p.Leu122Phe)
c.685C>T (p.Leu229Phe)
3g.69949142T>ACA353561426MITFc.806T>A (p.Leu269His)
c.803T>A (p.Leu268His)
n.1028T>A
c.779T>A (p.Leu260His)
c.854T>A (p.Leu285His)
c.533T>A (p.Leu178His)
c.851T>A (p.Leu284His)
c.698T>A (p.Leu233His)
c.*180T>A (n.*180T>A)
c.365T>A (p.Leu122His)
c.686T>A (p.Leu229His)
 dbSNP gnomAD v2 gnomAD v4
3g.69949142T>CCA353561427MITFc.806T>C (p.Leu269Pro)
c.803T>C (p.Leu268Pro)
n.1028T>C
c.779T>C (p.Leu260Pro)
c.854T>C (p.Leu285Pro)
c.533T>C (p.Leu178Pro)
c.851T>C (p.Leu284Pro)
c.698T>C (p.Leu233Pro)
c.*180T>C (n.*180T>C)
c.365T>C (p.Leu122Pro)
c.686T>C (p.Leu229Pro)
3g.69949142T>GCA353561428MITFc.806T>G (p.Leu269Arg)
c.803T>G (p.Leu268Arg)
n.1028T>G
c.779T>G (p.Leu260Arg)
c.854T>G (p.Leu285Arg)
c.533T>G (p.Leu178Arg)
c.851T>G (p.Leu284Arg)
c.698T>G (p.Leu233Arg)
c.*180T>G (n.*180T>G)
c.365T>G (p.Leu122Arg)
c.686T>G (p.Leu229Arg)
3g.69949142T=CA1373440761MITFc.806T= (p.Leu269=)
c.803T= (p.Leu268=)
n.1028T=
c.779T= (p.Leu260=)
c.854T= (p.Leu285=)
c.533T= (p.Leu178=)
c.851T= (p.Leu284=)
c.698T= (p.Leu233=)
c.*180T= (n.*180T=)
c.365T= (p.Leu122=)
c.686T= (p.Leu229=)
3g.69949143T>ACA434305905MITFc.807T>A (p.Leu269=)
c.804T>A (p.Leu268=)
n.1029T>A
c.780T>A (p.Leu260=)
c.855T>A (p.Leu285=)
c.534T>A (p.Leu178=)
c.852T>A (p.Leu284=)
c.699T>A (p.Leu233=)
c.*181T>A (n.*181T>A)
c.366T>A (p.Leu122=)
c.687T>A (p.Leu229=)
 dbSNP gnomAD v2 gnomAD v4
3g.69949143T>CCA434305906MITFc.807T>C (p.Leu269=)
c.804T>C (p.Leu268=)
n.1029T>C
c.780T>C (p.Leu260=)
c.855T>C (p.Leu285=)
c.534T>C (p.Leu178=)
c.852T>C (p.Leu284=)
c.699T>C (p.Leu233=)
c.*181T>C (n.*181T>C)
c.366T>C (p.Leu122=)
c.687T>C (p.Leu229=)
3g.69949143T>GCA434305907MITFc.807T>G (p.Leu269=)
c.804T>G (p.Leu268=)
n.1029T>G
c.780T>G (p.Leu260=)
c.855T>G (p.Leu285=)
c.534T>G (p.Leu178=)
c.852T>G (p.Leu284=)
c.699T>G (p.Leu233=)
c.*181T>G (n.*181T>G)
c.366T>G (p.Leu122=)
c.687T>G (p.Leu229=)
3g.69949143T=CA1373440764MITFc.807T= (p.Leu269=)
c.804T= (p.Leu268=)
n.1029T=
c.780T= (p.Leu260=)
c.855T= (p.Leu285=)
c.534T= (p.Leu178=)
c.852T= (p.Leu284=)
c.699T= (p.Leu233=)
c.*181T= (n.*181T=)
c.366T= (p.Leu122=)
c.687T= (p.Leu229=)
3g.69949144C>ACA353561431MITFc.808C>A (p.Pro270Thr)
c.805C>A (p.Pro269Thr)
n.1030C>A
c.781C>A (p.Pro261Thr)
c.856C>A (p.Pro286Thr)
c.535C>A (p.Pro179Thr)
c.853C>A (p.Pro285Thr)
c.700C>A (p.Pro234Thr)
c.*182C>A (n.*182C>A)
c.367C>A (p.Pro123Thr)
c.688C>A (p.Pro230Thr)
 COSMIC
3g.69949144C>GCA353561430MITFc.808C>G (p.Pro270Ala)
c.805C>G (p.Pro269Ala)
n.1030C>G
c.781C>G (p.Pro261Ala)
c.856C>G (p.Pro286Ala)
c.535C>G (p.Pro179Ala)
c.853C>G (p.Pro285Ala)
c.700C>G (p.Pro234Ala)
c.*182C>G (n.*182C>G)
c.367C>G (p.Pro123Ala)
c.688C>G (p.Pro230Ala)
 gnomAD v4
3g.69949144C>TCA353561429MITFc.808C>T (p.Pro270Ser)
c.805C>T (p.Pro269Ser)
n.1030C>T
c.781C>T (p.Pro261Ser)
c.856C>T (p.Pro286Ser)
c.535C>T (p.Pro179Ser)
c.853C>T (p.Pro285Ser)
c.700C>T (p.Pro234Ser)
c.*182C>T (n.*182C>T)
c.367C>T (p.Pro123Ser)
c.688C>T (p.Pro230Ser)
3g.69949145C>ACA353561432MITFc.809C>A (p.Pro270His)
c.806C>A (p.Pro269His)
n.1031C>A
c.782C>A (p.Pro261His)
c.857C>A (p.Pro286His)
c.536C>A (p.Pro179His)
c.854C>A (p.Pro285His)
c.701C>A (p.Pro234His)
c.*183C>A (n.*183C>A)
c.368C>A (p.Pro123His)
c.689C>A (p.Pro230His)
 dbSNP
3g.69949145C>GCA353561433MITFc.809C>G (p.Pro270Arg)
c.806C>G (p.Pro269Arg)
n.1031C>G
c.782C>G (p.Pro261Arg)
c.857C>G (p.Pro286Arg)
c.536C>G (p.Pro179Arg)
c.854C>G (p.Pro285Arg)
c.701C>G (p.Pro234Arg)
c.*183C>G (n.*183C>G)
c.368C>G (p.Pro123Arg)
c.689C>G (p.Pro230Arg)
3g.69949145C>TCA353561434MITFc.809C>T (p.Pro270Leu)
c.806C>T (p.Pro269Leu)
n.1031C>T
c.782C>T (p.Pro261Leu)
c.857C>T (p.Pro286Leu)
c.536C>T (p.Pro179Leu)
c.854C>T (p.Pro285Leu)
c.701C>T (p.Pro234Leu)
c.*183C>T (n.*183C>T)
c.368C>T (p.Pro123Leu)
c.689C>T (p.Pro230Leu)
3g.69949146C>ACA434305908MITFc.810C>A (p.Pro270=)
c.807C>A (p.Pro269=)
n.1032C>A
c.783C>A (p.Pro261=)
c.858C>A (p.Pro286=)
c.537C>A (p.Pro179=)
c.855C>A (p.Pro285=)
c.702C>A (p.Pro234=)
c.*184C>A (n.*184C>A)
c.369C>A (p.Pro123=)
c.690C>A (p.Pro230=)
 gnomAD v4
3g.69949146C>GCA434305909MITFc.810C>G (p.Pro270=)
c.807C>G (p.Pro269=)
n.1032C>G
c.783C>G (p.Pro261=)
c.858C>G (p.Pro286=)
c.537C>G (p.Pro179=)
c.855C>G (p.Pro285=)
c.702C>G (p.Pro234=)
c.*184C>G (n.*184C>G)
c.369C>G (p.Pro123=)
c.690C>G (p.Pro230=)
3g.69949146C>TCA434305910MITFc.810C>T (p.Pro270=)
c.807C>T (p.Pro269=)
n.1032C>T
c.783C>T (p.Pro261=)
c.858C>T (p.Pro286=)
c.537C>T (p.Pro179=)
c.855C>T (p.Pro285=)
c.702C>T (p.Pro234=)
c.*184C>T (n.*184C>T)
c.369C>T (p.Pro123=)
c.690C>T (p.Pro230=)
3g.69949147A=CA1373440766MITFc.811A= (p.Asn271=)
c.808A= (p.Asn270=)
n.1033A=
c.784A= (p.Asn262=)
c.859A= (p.Asn287=)
c.538A= (p.Asn180=)
c.856A= (p.Asn286=)
c.703A= (p.Asn235=)
c.*185A= (n.*185A=)
c.370A= (p.Asn124=)
c.691A= (p.Asn231=)
3g.69949147A>CCA353561435MITFc.811A>C (p.Asn271His)
c.808A>C (p.Asn270His)
n.1033A>C
c.784A>C (p.Asn262His)
c.859A>C (p.Asn287His)
c.538A>C (p.Asn180His)
c.856A>C (p.Asn286His)
c.703A>C (p.Asn235His)
c.*185A>C (n.*185A>C)
c.370A>C (p.Asn124His)
c.691A>C (p.Asn231His)
3g.69949147A>GCA2490488MITFc.811A>G (p.Asn271Asp)
c.808A>G (p.Asn270Asp)
n.1033A>G
c.784A>G (p.Asn262Asp)
c.859A>G (p.Asn287Asp)
c.538A>G (p.Asn180Asp)
c.856A>G (p.Asn286Asp)
c.703A>G (p.Asn235Asp)
c.*185A>G (n.*185A>G)
c.370A>G (p.Asn124Asp)
c.691A>G (p.Asn231Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69949147A>TCA353561436MITFc.811A>T (p.Asn271Tyr)
c.808A>T (p.Asn270Tyr)
n.1033A>T
c.784A>T (p.Asn262Tyr)
c.859A>T (p.Asn287Tyr)
c.538A>T (p.Asn180Tyr)
c.856A>T (p.Asn286Tyr)
c.703A>T (p.Asn235Tyr)
c.*185A>T (n.*185A>T)
c.370A>T (p.Asn124Tyr)
c.691A>T (p.Asn231Tyr)
3g.69949148A>CCA353561437MITFc.812A>C (p.Asn271Thr)
c.809A>C (p.Asn270Thr)
n.1034A>C
c.785A>C (p.Asn262Thr)
c.860A>C (p.Asn287Thr)
c.539A>C (p.Asn180Thr)
c.857A>C (p.Asn286Thr)
c.704A>C (p.Asn235Thr)
c.*186A>C (n.*186A>C)
c.371A>C (p.Asn124Thr)
c.692A>C (p.Asn231Thr)
3g.69949148A>GCA353561439MITFc.812A>G (p.Asn271Ser)
c.809A>G (p.Asn270Ser)
n.1034A>G
c.785A>G (p.Asn262Ser)
c.860A>G (p.Asn287Ser)
c.539A>G (p.Asn180Ser)
c.857A>G (p.Asn286Ser)
c.704A>G (p.Asn235Ser)
c.*186A>G (n.*186A>G)
c.371A>G (p.Asn124Ser)
c.692A>G (p.Asn231Ser)
 gnomAD v4
3g.69949148A>TCA353561438MITFc.812A>T (p.Asn271Ile)
c.809A>T (p.Asn270Ile)
n.1034A>T
c.785A>T (p.Asn262Ile)
c.860A>T (p.Asn287Ile)
c.539A>T (p.Asn180Ile)
c.857A>T (p.Asn286Ile)
c.704A>T (p.Asn235Ile)
c.*186A>T (n.*186A>T)
c.371A>T (p.Asn124Ile)
c.692A>T (p.Asn231Ile)
3g.69949149C>ACA353561440MITFc.813C>A (p.Asn271Lys)
c.810C>A (p.Asn270Lys)
n.1035C>A
c.786C>A (p.Asn262Lys)
c.861C>A (p.Asn287Lys)
c.540C>A (p.Asn180Lys)
c.858C>A (p.Asn286Lys)
c.705C>A (p.Asn235Lys)
c.*187C>A (n.*187C>A)
c.372C>A (p.Asn124Lys)
c.693C>A (p.Asn231Lys)
3g.69949149C=CA1373440769MITFc.813C= (p.Asn271=)
c.810C= (p.Asn270=)
n.1035C=
c.786C= (p.Asn262=)
c.861C= (p.Asn287=)
c.540C= (p.Asn180=)
c.858C= (p.Asn286=)
c.705C= (p.Asn235=)
c.*187C= (n.*187C=)
c.372C= (p.Asn124=)
c.693C= (p.Asn231=)
3g.69949149C>GCA353561441MITFc.813C>G (p.Asn271Lys)
c.810C>G (p.Asn270Lys)
n.1035C>G
c.786C>G (p.Asn262Lys)
c.861C>G (p.Asn287Lys)
c.540C>G (p.Asn180Lys)
c.858C>G (p.Asn286Lys)
c.705C>G (p.Asn235Lys)
c.*187C>G (n.*187C>G)
c.372C>G (p.Asn124Lys)
c.693C>G (p.Asn231Lys)
 ClinVar dbSNP
3g.69949149C>TCA434305911MITFc.813C>T (p.Asn271=)
c.810C>T (p.Asn270=)
n.1035C>T
c.786C>T (p.Asn262=)
c.861C>T (p.Asn287=)
c.540C>T (p.Asn180=)
c.858C>T (p.Asn286=)
c.705C>T (p.Asn235=)
c.*187C>T (n.*187C>T)
c.372C>T (p.Asn124=)
c.693C>T (p.Asn231=)
 dbSNP gnomAD v3 gnomAD v4
3g.69949150A=CA1373440775MITFc.814A= (p.Ile272=)
c.811A= (p.Ile271=)
n.1036A=
c.787A= (p.Ile263=)
c.862A= (p.Ile288=)
c.541A= (p.Ile181=)
c.859A= (p.Ile287=)
c.706A= (p.Ile236=)
c.*188A= (n.*188A=)
c.373A= (p.Ile125=)
c.694A= (p.Ile232=)
3g.69949150A>CCA353561442MITFc.814A>C (p.Ile272Leu)
c.811A>C (p.Ile271Leu)
n.1036A>C
c.787A>C (p.Ile263Leu)
c.862A>C (p.Ile288Leu)
c.541A>C (p.Ile181Leu)
c.859A>C (p.Ile287Leu)
c.706A>C (p.Ile236Leu)
c.*188A>C (n.*188A>C)
c.373A>C (p.Ile125Leu)
c.694A>C (p.Ile232Leu)
 ClinVar dbSNP
3g.69949150A>GCA353561443MITFc.814A>G (p.Ile272Val)
c.811A>G (p.Ile271Val)
n.1036A>G
c.787A>G (p.Ile263Val)
c.862A>G (p.Ile288Val)
c.541A>G (p.Ile181Val)
c.859A>G (p.Ile287Val)
c.706A>G (p.Ile236Val)
c.*188A>G (n.*188A>G)
c.373A>G (p.Ile125Val)
c.694A>G (p.Ile232Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69949150A>TCA353561444MITFc.814A>T (p.Ile272Leu)
c.811A>T (p.Ile271Leu)
n.1036A>T
c.787A>T (p.Ile263Leu)
c.862A>T (p.Ile288Leu)
c.541A>T (p.Ile181Leu)
c.859A>T (p.Ile287Leu)
c.706A>T (p.Ile236Leu)
c.*188A>T (n.*188A>T)
c.373A>T (p.Ile125Leu)
c.694A>T (p.Ile232Leu)
 gnomAD v4
3g.69949150dupCA2586972642MITFc.814dup (p.Ile272AsnfsTer9)
c.811dup (p.Ile271AsnfsTer9)
n.1036dup
c.787dup (p.Ile263AsnfsTer9)
c.862dup (p.Ile288AsnfsTer15)
c.541dup (p.Ile181AsnfsTer15)
c.859dup (p.Ile287AsnfsTer9)
c.862dup (p.Ile288AsnfsTer9)
c.541dup (p.Ile181AsnfsTer9)
c.814dup (p.Ile272AsnfsTer15)
c.706dup (p.Ile236AsnfsTer9)
c.*188dup (n.*188dup)
c.373dup (p.Ile125AsnfsTer9)
c.706dup (p.Ile236AsnfsTer15)
c.859dup (p.Ile287AsnfsTer15)
c.811dup (p.Ile271AsnfsTer15)
c.694dup (p.Ile232AsnfsTer15)
c.694dup (p.Ile232AsnfsTer9)
3g.69949151T>ACA353561445MITFc.815T>A (p.Ile272Lys)
c.812T>A (p.Ile271Lys)
n.1037T>A
c.788T>A (p.Ile263Lys)
c.863T>A (p.Ile288Lys)
c.542T>A (p.Ile181Lys)
c.860T>A (p.Ile287Lys)
c.707T>A (p.Ile236Lys)
c.*189T>A (n.*189T>A)
c.374T>A (p.Ile125Lys)
c.695T>A (p.Ile232Lys)
 dbSNP gnomAD v4
3g.69949151T>CCA353561446MITFc.815T>C (p.Ile272Thr)
c.812T>C (p.Ile271Thr)
n.1037T>C
c.788T>C (p.Ile263Thr)
c.863T>C (p.Ile288Thr)
c.542T>C (p.Ile181Thr)
c.860T>C (p.Ile287Thr)
c.707T>C (p.Ile236Thr)
c.*189T>C (n.*189T>C)
c.374T>C (p.Ile125Thr)
c.695T>C (p.Ile232Thr)
3g.69949151T>GCA353561447MITFc.815T>G (p.Ile272Arg)
c.812T>G (p.Ile271Arg)
n.1037T>G
c.788T>G (p.Ile263Arg)
c.863T>G (p.Ile288Arg)
c.542T>G (p.Ile181Arg)
c.860T>G (p.Ile287Arg)
c.707T>G (p.Ile236Arg)
c.*189T>G (n.*189T>G)
c.374T>G (p.Ile125Arg)
c.695T>G (p.Ile232Arg)
3g.69949151T=CA1373440780MITFc.815T= (p.Ile272=)
c.812T= (p.Ile271=)
n.1037T=
c.788T= (p.Ile263=)
c.863T= (p.Ile288=)
c.542T= (p.Ile181=)
c.860T= (p.Ile287=)
c.707T= (p.Ile236=)
c.*189T= (n.*189T=)
c.374T= (p.Ile125=)
c.695T= (p.Ile232=)
3g.69949152A=CA1373440782MITFc.816A= (p.Ile272=)
c.813A= (p.Ile271=)
n.1038A=
c.789A= (p.Ile263=)
c.864A= (p.Ile288=)
c.543A= (p.Ile181=)
c.861A= (p.Ile287=)
c.708A= (p.Ile236=)
c.*190A= (n.*190A=)
c.375A= (p.Ile125=)
c.696A= (p.Ile232=)
3g.69949152A>CCA434305912MITFc.816A>C (p.Ile272=)
c.813A>C (p.Ile271=)
n.1038A>C
c.789A>C (p.Ile263=)
c.864A>C (p.Ile288=)
c.543A>C (p.Ile181=)
c.861A>C (p.Ile287=)
c.708A>C (p.Ile236=)
c.*190A>C (n.*190A>C)
c.375A>C (p.Ile125=)
c.696A>C (p.Ile232=)
3g.69949152A>GCA353561448MITFc.816A>G (p.Ile272Met)
c.813A>G (p.Ile271Met)
n.1038A>G
c.789A>G (p.Ile263Met)
c.864A>G (p.Ile288Met)
c.543A>G (p.Ile181Met)
c.861A>G (p.Ile287Met)
c.708A>G (p.Ile236Met)
c.*190A>G (n.*190A>G)
c.375A>G (p.Ile125Met)
c.696A>G (p.Ile232Met)
 dbSNP
3g.69949152A>TCA434305913MITFc.816A>T (p.Ile272=)
c.813A>T (p.Ile271=)
n.1038A>T
c.789A>T (p.Ile263=)
c.864A>T (p.Ile288=)
c.543A>T (p.Ile181=)
c.861A>T (p.Ile287=)
c.708A>T (p.Ile236=)
c.*190A>T (n.*190A>T)
c.375A>T (p.Ile125=)
c.696A>T (p.Ile232=)
3g.69949156delCA2666480464MITFc.820del (p.Arg274GlyfsTer23)
c.817del (p.Arg273GlyfsTer23)
n.1042del
c.793del (p.Arg265GlyfsTer23)
c.868del (p.Arg290GlyfsTer29)
c.547del (p.Arg183GlyfsTer29)
c.865del (p.Arg289GlyfsTer23)
c.868del (p.Arg290GlyfsTer23)
c.547del (p.Arg183GlyfsTer23)
c.820del (p.Arg274GlyfsTer29)
c.712del (p.Arg238GlyfsTer23)
c.*194del (n.*194del)
c.379del (p.Arg127GlyfsTer23)
c.712del (p.Arg238GlyfsTer29)
c.865del (p.Arg289GlyfsTer29)
c.817del (p.Arg273GlyfsTer29)
c.700del (p.Arg234GlyfsTer29)
c.700del (p.Arg234GlyfsTer23)
 dbSNP gnomAD v4
3g.69949153A>CCA353561449MITFc.817A>C (p.Lys273Gln)
c.814A>C (p.Lys272Gln)
n.1039A>C
c.790A>C (p.Lys264Gln)
c.865A>C (p.Lys289Gln)
c.544A>C (p.Lys182Gln)
c.862A>C (p.Lys288Gln)
c.709A>C (p.Lys237Gln)
c.*191A>C (n.*191A>C)
c.376A>C (p.Lys126Gln)
c.697A>C (p.Lys233Gln)
3g.69949153A>GCA353561450MITFc.817A>G (p.Lys273Glu)
c.814A>G (p.Lys272Glu)
n.1039A>G
c.790A>G (p.Lys264Glu)
c.865A>G (p.Lys289Glu)
c.544A>G (p.Lys182Glu)
c.862A>G (p.Lys288Glu)
c.709A>G (p.Lys237Glu)
c.*191A>G (n.*191A>G)
c.376A>G (p.Lys126Glu)
c.697A>G (p.Lys233Glu)
3g.69949153A>TCA353561451MITFc.817A>T (p.Lys273Ter)
c.814A>T (p.Lys272Ter)
n.1039A>T
c.790A>T (p.Lys264Ter)
c.865A>T (p.Lys289Ter)
c.544A>T (p.Lys182Ter)
c.862A>T (p.Lys288Ter)
c.709A>T (p.Lys237Ter)
c.*191A>T (n.*191A>T)
c.376A>T (p.Lys126Ter)
c.697A>T (p.Lys233Ter)
3g.69949154A>CCA353561452MITFc.818A>C (p.Lys273Thr)
c.815A>C (p.Lys272Thr)
n.1040A>C
c.791A>C (p.Lys264Thr)
c.866A>C (p.Lys289Thr)
c.545A>C (p.Lys182Thr)
c.863A>C (p.Lys288Thr)
c.710A>C (p.Lys237Thr)
c.*192A>C (n.*192A>C)
c.377A>C (p.Lys126Thr)
c.698A>C (p.Lys233Thr)
3g.69949154A>GCA353561454MITFc.818A>G (p.Lys273Arg)
c.815A>G (p.Lys272Arg)
n.1040A>G
c.791A>G (p.Lys264Arg)
c.866A>G (p.Lys289Arg)
c.545A>G (p.Lys182Arg)
c.863A>G (p.Lys288Arg)
c.710A>G (p.Lys237Arg)
c.*192A>G (n.*192A>G)
c.377A>G (p.Lys126Arg)
c.698A>G (p.Lys233Arg)
3g.69949154A>TCA353561453MITFc.818A>T (p.Lys273Ile)
c.815A>T (p.Lys272Ile)
n.1040A>T
c.791A>T (p.Lys264Ile)
c.866A>T (p.Lys289Ile)
c.545A>T (p.Lys182Ile)
c.863A>T (p.Lys288Ile)
c.710A>T (p.Lys237Ile)
c.*192A>T (n.*192A>T)
c.377A>T (p.Lys126Ile)
c.698A>T (p.Lys233Ile)
3g.69949155A>CCA353561455MITFc.819A>C (p.Lys273Asn)
c.816A>C (p.Lys272Asn)
n.1041A>C
c.792A>C (p.Lys264Asn)
c.867A>C (p.Lys289Asn)
c.546A>C (p.Lys182Asn)
c.864A>C (p.Lys288Asn)
c.711A>C (p.Lys237Asn)
c.*193A>C (n.*193A>C)
c.378A>C (p.Lys126Asn)
c.699A>C (p.Lys233Asn)
3g.69949155A>GCA434305914MITFc.819A>G (p.Lys273=)
c.816A>G (p.Lys272=)
n.1041A>G
c.792A>G (p.Lys264=)
c.867A>G (p.Lys289=)
c.546A>G (p.Lys182=)
c.864A>G (p.Lys288=)
c.711A>G (p.Lys237=)
c.*193A>G (n.*193A>G)
c.378A>G (p.Lys126=)
c.699A>G (p.Lys233=)
3g.69949155A>TCA353561456MITFc.819A>T (p.Lys273Asn)
c.816A>T (p.Lys272Asn)
n.1041A>T
c.792A>T (p.Lys264Asn)
c.867A>T (p.Lys289Asn)
c.546A>T (p.Lys182Asn)
c.864A>T (p.Lys288Asn)
c.711A>T (p.Lys237Asn)
c.*193A>T (n.*193A>T)
c.378A>T (p.Lys126Asn)
c.699A>T (p.Lys233Asn)
3g.69949156A>CCA434305915MITFc.820A>C (p.Arg274=)
c.817A>C (p.Arg273=)
n.1042A>C
c.793A>C (p.Arg265=)
c.868A>C (p.Arg290=)
c.547A>C (p.Arg183=)
c.865A>C (p.Arg289=)
c.712A>C (p.Arg238=)
c.*194A>C (n.*194A>C)
c.379A>C (p.Arg127=)
c.700A>C (p.Arg234=)
3g.69949156A>GCA353561457MITFc.820A>G (p.Arg274Gly)
c.817A>G (p.Arg273Gly)
n.1042A>G
c.793A>G (p.Arg265Gly)
c.868A>G (p.Arg290Gly)
c.547A>G (p.Arg183Gly)
c.865A>G (p.Arg289Gly)
c.712A>G (p.Arg238Gly)
c.*194A>G (n.*194A>G)
c.379A>G (p.Arg127Gly)
c.700A>G (p.Arg234Gly)
3g.69949156A>TCA353561458MITFc.820A>T (p.Arg274Trp)
c.817A>T (p.Arg273Trp)
n.1042A>T
c.793A>T (p.Arg265Trp)
c.868A>T (p.Arg290Trp)
c.547A>T (p.Arg183Trp)
c.865A>T (p.Arg289Trp)
c.712A>T (p.Arg238Trp)
c.*194A>T (n.*194A>T)
c.379A>T (p.Arg127Trp)
c.700A>T (p.Arg234Trp)
3g.69949157G>ACA353561459MITFc.821G>A (p.Arg274Lys)
c.818G>A (p.Arg273Lys)
n.1043G>A
c.794G>A (p.Arg265Lys)
c.869G>A (p.Arg290Lys)
c.548G>A (p.Arg183Lys)
c.866G>A (p.Arg289Lys)
c.713G>A (p.Arg238Lys)
c.*195G>A (n.*195G>A)
c.380G>A (p.Arg127Lys)
c.701G>A (p.Arg234Lys)
3g.69949157G>CCA353561460MITFc.821G>C (p.Arg274Thr)
c.818G>C (p.Arg273Thr)
n.1043G>C
c.794G>C (p.Arg265Thr)
c.869G>C (p.Arg290Thr)
c.548G>C (p.Arg183Thr)
c.866G>C (p.Arg289Thr)
c.713G>C (p.Arg238Thr)
c.*195G>C (n.*195G>C)
c.380G>C (p.Arg127Thr)
c.701G>C (p.Arg234Thr)
3g.69949157G>TCA353561461MITFc.821G>T (p.Arg274Met)
c.818G>T (p.Arg273Met)
n.1043G>T
c.794G>T (p.Arg265Met)
c.869G>T (p.Arg290Met)
c.548G>T (p.Arg183Met)
c.866G>T (p.Arg289Met)
c.713G>T (p.Arg238Met)
c.*195G>T (n.*195G>T)
c.380G>T (p.Arg127Met)
c.701G>T (p.Arg234Met)
3g.69949158G>ACA2490489MITFc.822G>A (p.Arg274=)
c.819G>A (p.Arg273=)
n.1044G>A
c.795G>A (p.Arg265=)
c.870G>A (p.Arg290=)
c.549G>A (p.Arg183=)
c.867G>A (p.Arg289=)
c.714G>A (p.Arg238=)
c.*196G>A (n.*196G>A)
c.381G>A (p.Arg127=)
c.702G>A (p.Arg234=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69949158G>CCA353561462MITFc.822G>C (p.Arg274Ser)
c.819G>C (p.Arg273Ser)
n.1044G>C
c.795G>C (p.Arg265Ser)
c.870G>C (p.Arg290Ser)
c.549G>C (p.Arg183Ser)
c.867G>C (p.Arg289Ser)
c.714G>C (p.Arg238Ser)
c.*196G>C (n.*196G>C)
c.381G>C (p.Arg127Ser)
c.702G>C (p.Arg234Ser)
3g.69949158G=CA1373440787MITFc.822G= (p.Arg274=)
c.819G= (p.Arg273=)
n.1044G=
c.795G= (p.Arg265=)
c.870G= (p.Arg290=)
c.549G= (p.Arg183=)
c.867G= (p.Arg289=)
c.714G= (p.Arg238=)
c.*196G= (n.*196G=)
c.381G= (p.Arg127=)
c.702G= (p.Arg234=)
3g.69949158G>TCA353561463MITFc.822G>T (p.Arg274Ser)
c.819G>T (p.Arg273Ser)
n.1044G>T
c.795G>T (p.Arg265Ser)
c.870G>T (p.Arg290Ser)
c.549G>T (p.Arg183Ser)
c.867G>T (p.Arg289Ser)
c.714G>T (p.Arg238Ser)
c.*196G>T (n.*196G>T)
c.381G>T (p.Arg127Ser)
c.702G>T (p.Arg234Ser)
 dbSNP
3g.69949159G>ACA353561464MITFc.823G>A (p.Glu275Lys)
c.820G>A (p.Glu274Lys)
n.1045G>A
c.796G>A (p.Glu266Lys)
c.871G>A (p.Glu291Lys)
c.550G>A (p.Glu184Lys)
c.868G>A (p.Glu290Lys)
c.715G>A (p.Glu239Lys)
c.*197G>A (n.*197G>A)
c.382G>A (p.Glu128Lys)
c.703G>A (p.Glu235Lys)
3g.69949159G>CCA353561465MITFc.823G>C (p.Glu275Gln)
c.820G>C (p.Glu274Gln)
n.1045G>C
c.796G>C (p.Glu266Gln)
c.871G>C (p.Glu291Gln)
c.550G>C (p.Glu184Gln)
c.868G>C (p.Glu290Gln)
c.715G>C (p.Glu239Gln)
c.*197G>C (n.*197G>C)
c.382G>C (p.Glu128Gln)
c.703G>C (p.Glu235Gln)
3g.69949159G>TCA353561466MITFc.823G>T (p.Glu275Ter)
c.820G>T (p.Glu274Ter)
n.1045G>T
c.796G>T (p.Glu266Ter)
c.871G>T (p.Glu291Ter)
c.550G>T (p.Glu184Ter)
c.868G>T (p.Glu290Ter)
c.715G>T (p.Glu239Ter)
c.*197G>T (n.*197G>T)
c.382G>T (p.Glu128Ter)
c.703G>T (p.Glu235Ter)
3g.69949160A>CCA353561467MITFc.824A>C (p.Glu275Ala)
c.821A>C (p.Glu274Ala)
n.1046A>C
c.797A>C (p.Glu266Ala)
c.872A>C (p.Glu291Ala)
c.551A>C (p.Glu184Ala)
c.869A>C (p.Glu290Ala)
c.716A>C (p.Glu239Ala)
c.*198A>C (n.*198A>C)
c.383A>C (p.Glu128Ala)
c.704A>C (p.Glu235Ala)
3g.69949160A>GCA353561469MITFc.824A>G (p.Glu275Gly)
c.821A>G (p.Glu274Gly)
n.1046A>G
c.797A>G (p.Glu266Gly)
c.872A>G (p.Glu291Gly)
c.551A>G (p.Glu184Gly)
c.869A>G (p.Glu290Gly)
c.716A>G (p.Glu239Gly)
c.*198A>G (n.*198A>G)
c.383A>G (p.Glu128Gly)
c.704A>G (p.Glu235Gly)
3g.69949160A>TCA353561468MITFc.824A>T (p.Glu275Val)
c.821A>T (p.Glu274Val)
n.1046A>T
c.797A>T (p.Glu266Val)
c.872A>T (p.Glu291Val)
c.551A>T (p.Glu184Val)
c.869A>T (p.Glu290Val)
c.716A>T (p.Glu239Val)
c.*198A>T (n.*198A>T)
c.383A>T (p.Glu128Val)
c.704A>T (p.Glu235Val)
3g.69949161G>ACA2490490MITFc.825G>A (p.Glu275=)
c.822G>A (p.Glu274=)
n.1047G>A
c.798G>A (p.Glu266=)
c.873G>A (p.Glu291=)
c.552G>A (p.Glu184=)
c.870G>A (p.Glu290=)
c.717G>A (p.Glu239=)
c.*199G>A (n.*199G>A)
c.384G>A (p.Glu128=)
c.705G>A (p.Glu235=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.69949161G>CCA353561470MITFc.825G>C (p.Glu275Asp)
c.822G>C (p.Glu274Asp)
n.1047G>C
c.798G>C (p.Glu266Asp)
c.873G>C (p.Glu291Asp)
c.552G>C (p.Glu184Asp)
c.870G>C (p.Glu290Asp)
c.717G>C (p.Glu239Asp)
c.*199G>C (n.*199G>C)
c.384G>C (p.Glu128Asp)
c.705G>C (p.Glu235Asp)
3g.69949161G=CA1373440791MITFc.825G= (p.Glu275=)
c.822G= (p.Glu274=)
n.1047G=
c.798G= (p.Glu266=)
c.873G= (p.Glu291=)
c.552G= (p.Glu184=)
c.870G= (p.Glu290=)
c.717G= (p.Glu239=)
c.*199G= (n.*199G=)
c.384G= (p.Glu128=)
c.705G= (p.Glu235=)
3g.69949161G>TCA353561471MITFc.825G>T (p.Glu275Asp)
c.822G>T (p.Glu274Asp)
n.1047G>T
c.798G>T (p.Glu266Asp)
c.873G>T (p.Glu291Asp)
c.552G>T (p.Glu184Asp)
c.870G>T (p.Glu290Asp)
c.717G>T (p.Glu239Asp)
c.*199G>T (n.*199G>T)
c.384G>T (p.Glu128Asp)
c.705G>T (p.Glu235Asp)
 dbSNP
3g.69949162C>ACA353561472MITFc.826C>A (p.Leu276Ile)
c.823C>A (p.Leu275Ile)
n.1048C>A
c.799C>A (p.Leu267Ile)
c.874C>A (p.Leu292Ile)
c.553C>A (p.Leu185Ile)
c.871C>A (p.Leu291Ile)
c.718C>A (p.Leu240Ile)
c.*200C>A (n.*200C>A)
c.385C>A (p.Leu129Ile)
c.706C>A (p.Leu236Ile)
3g.69949162C>GCA353561473MITFc.826C>G (p.Leu276Val)
c.823C>G (p.Leu275Val)
n.1048C>G
c.799C>G (p.Leu267Val)
c.874C>G (p.Leu292Val)
c.553C>G (p.Leu185Val)
c.871C>G (p.Leu291Val)
c.718C>G (p.Leu240Val)
c.*200C>G (n.*200C>G)
c.385C>G (p.Leu129Val)
c.706C>G (p.Leu236Val)
3g.69949162C>TCA353561474MITFc.826C>T (p.Leu276Phe)
c.823C>T (p.Leu275Phe)
n.1048C>T
c.799C>T (p.Leu267Phe)
c.874C>T (p.Leu292Phe)
c.553C>T (p.Leu185Phe)
c.871C>T (p.Leu291Phe)
c.718C>T (p.Leu240Phe)
c.*200C>T (n.*200C>T)
c.385C>T (p.Leu129Phe)
c.706C>T (p.Leu236Phe)
3g.69949163T>ACA353561475MITFc.827T>A (p.Leu276His)
c.824T>A (p.Leu275His)
n.1049T>A
c.800T>A (p.Leu267His)
c.875T>A (p.Leu292His)
c.554T>A (p.Leu185His)
c.872T>A (p.Leu291His)
c.719T>A (p.Leu240His)
c.*201T>A (n.*201T>A)
c.386T>A (p.Leu129His)
c.707T>A (p.Leu236His)
3g.69949163T>CCA353561476MITFc.827T>C (p.Leu276Pro)
c.824T>C (p.Leu275Pro)
n.1049T>C
c.800T>C (p.Leu267Pro)
c.875T>C (p.Leu292Pro)
c.554T>C (p.Leu185Pro)
c.872T>C (p.Leu291Pro)
c.719T>C (p.Leu240Pro)
c.*201T>C (n.*201T>C)
c.386T>C (p.Leu129Pro)
c.707T>C (p.Leu236Pro)
3g.69949163T>GCA353561477MITFc.827T>G (p.Leu276Arg)
c.824T>G (p.Leu275Arg)
n.1049T>G
c.800T>G (p.Leu267Arg)
c.875T>G (p.Leu292Arg)
c.554T>G (p.Leu185Arg)
c.872T>G (p.Leu291Arg)
c.719T>G (p.Leu240Arg)
c.*201T>G (n.*201T>G)
c.386T>G (p.Leu129Arg)
c.707T>G (p.Leu236Arg)
3g.69949164C>ACA434305916MITFc.828C>A (p.Leu276=)
c.825C>A (p.Leu275=)
n.1050C>A
c.801C>A (p.Leu267=)
c.876C>A (p.Leu292=)
c.555C>A (p.Leu185=)
c.873C>A (p.Leu291=)
c.720C>A (p.Leu240=)
c.*202C>A (n.*202C>A)
c.387C>A (p.Leu129=)
c.708C>A (p.Leu236=)
3g.69949164C=CA1373440797MITFc.828C= (p.Leu276=)
c.825C= (p.Leu275=)
n.1050C=
c.801C= (p.Leu267=)
c.876C= (p.Leu292=)
c.555C= (p.Leu185=)
c.873C= (p.Leu291=)
c.720C= (p.Leu240=)
c.*202C= (n.*202C=)
c.387C= (p.Leu129=)
c.708C= (p.Leu236=)
3g.69949164C>GCA2490491MITFc.828C>G (p.Leu276=)
c.825C>G (p.Leu275=)
n.1050C>G
c.801C>G (p.Leu267=)
c.876C>G (p.Leu292=)
c.555C>G (p.Leu185=)
c.873C>G (p.Leu291=)
c.720C>G (p.Leu240=)
c.*202C>G (n.*202C>G)
c.387C>G (p.Leu129=)
c.708C>G (p.Leu236=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.69949164C>TCA434305917MITFc.828C>T (p.Leu276=)
c.825C>T (p.Leu275=)
n.1050C>T
c.801C>T (p.Leu267=)
c.876C>T (p.Leu292=)
c.555C>T (p.Leu185=)
c.873C>T (p.Leu291=)
c.720C>T (p.Leu240=)
c.*202C>T (n.*202C>T)
c.387C>T (p.Leu129=)
c.708C>T (p.Leu236=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69949165A>CCA353561480MITFc.829A>C (p.Thr277Pro)
c.826A>C (p.Thr276Pro)
n.1051A>C
c.802A>C (p.Thr268Pro)
c.877A>C (p.Thr293Pro)
c.556A>C (p.Thr186Pro)
c.874A>C (p.Thr292Pro)
c.721A>C (p.Thr241Pro)
c.*203A>C (n.*203A>C)
c.388A>C (p.Thr130Pro)
c.709A>C (p.Thr237Pro)
 gnomAD v4
3g.69949165A>GCA353561479MITFc.829A>G (p.Thr277Ala)
c.826A>G (p.Thr276Ala)
n.1051A>G
c.802A>G (p.Thr268Ala)
c.877A>G (p.Thr293Ala)
c.556A>G (p.Thr186Ala)
c.874A>G (p.Thr292Ala)
c.721A>G (p.Thr241Ala)
c.*203A>G (n.*203A>G)
c.388A>G (p.Thr130Ala)
c.709A>G (p.Thr237Ala)
3g.69949165A>TCA353561478MITFc.829A>T (p.Thr277Ser)
c.826A>T (p.Thr276Ser)
n.1051A>T
c.802A>T (p.Thr268Ser)
c.877A>T (p.Thr293Ser)
c.556A>T (p.Thr186Ser)
c.874A>T (p.Thr292Ser)
c.721A>T (p.Thr241Ser)
c.*203A>T (n.*203A>T)
c.388A>T (p.Thr130Ser)
c.709A>T (p.Thr237Ser)
3g.69949166C>ACA353561481MITFc.830C>A (p.Thr277Lys)
c.827C>A (p.Thr276Lys)
n.1052C>A
c.803C>A (p.Thr268Lys)
c.878C>A (p.Thr293Lys)
c.557C>A (p.Thr186Lys)
c.875C>A (p.Thr292Lys)
c.722C>A (p.Thr241Lys)
c.*204C>A (n.*204C>A)
c.389C>A (p.Thr130Lys)
c.710C>A (p.Thr237Lys)
 gnomAD v4
3g.69949166C=CA1373440800MITFc.830C= (p.Thr277=)
c.827C= (p.Thr276=)
n.1052C=
c.803C= (p.Thr268=)
c.878C= (p.Thr293=)
c.557C= (p.Thr186=)
c.875C= (p.Thr292=)
c.722C= (p.Thr241=)
c.*204C= (n.*204C=)
c.389C= (p.Thr130=)
c.710C= (p.Thr237=)
3g.69949166C>GCA353561483MITFc.830C>G (p.Thr277Arg)
c.827C>G (p.Thr276Arg)
n.1052C>G
c.803C>G (p.Thr268Arg)
c.878C>G (p.Thr293Arg)
c.557C>G (p.Thr186Arg)
c.875C>G (p.Thr292Arg)
c.722C>G (p.Thr241Arg)
c.*204C>G (n.*204C>G)
c.389C>G (p.Thr130Arg)
c.710C>G (p.Thr237Arg)
3g.69949166C>TCA353561482MITFc.830C>T (p.Thr277Ile)
c.827C>T (p.Thr276Ile)
n.1052C>T
c.803C>T (p.Thr268Ile)
c.878C>T (p.Thr293Ile)
c.557C>T (p.Thr186Ile)
c.875C>T (p.Thr292Ile)
c.722C>T (p.Thr241Ile)
c.*204C>T (n.*204C>T)
c.389C>T (p.Thr130Ile)
c.710C>T (p.Thr237Ile)
 dbSNP gnomAD v4
3g.69949167A>CCA434305919MITFc.831A>C (p.Thr277=)
c.828A>C (p.Thr276=)
n.1053A>C
c.804A>C (p.Thr268=)
c.879A>C (p.Thr293=)
c.558A>C (p.Thr186=)
c.876A>C (p.Thr292=)
c.723A>C (p.Thr241=)
c.*205A>C (n.*205A>C)
c.390A>C (p.Thr130=)
c.711A>C (p.Thr237=)
3g.69949167A>GCA434305918MITFc.831A>G (p.Thr277=)
c.828A>G (p.Thr276=)
n.1053A>G
c.804A>G (p.Thr268=)
c.879A>G (p.Thr293=)
c.558A>G (p.Thr186=)
c.876A>G (p.Thr292=)
c.723A>G (p.Thr241=)
c.*205A>G (n.*205A>G)
c.390A>G (p.Thr130=)
c.711A>G (p.Thr237=)
 ClinVar
3g.69949167A>TCA434305920MITFc.831A>T (p.Thr277=)
c.828A>T (p.Thr276=)
n.1053A>T
c.804A>T (p.Thr268=)
c.879A>T (p.Thr293=)
c.558A>T (p.Thr186=)
c.876A>T (p.Thr292=)
c.723A>T (p.Thr241=)
c.*205A>T (n.*205A>T)
c.390A>T (p.Thr130=)
c.711A>T (p.Thr237=)
3g.69949168G>ACA353561484MITFc.832G>A (p.Glu278Lys)
c.829G>A (p.Glu277Lys)
n.1054G>A
c.805G>A (p.Glu269Lys)
c.880G>A (p.Ala294Thr)
c.559G>A (p.Ala187Thr)
c.877G>A (p.Glu293Lys)
c.880G>A (p.Glu294Lys)
c.559G>A (p.Glu187Lys)
c.832G>A (p.Ala278Thr)
c.724G>A (p.Glu242Lys)
c.*206G>A (n.*206G>A)
c.391G>A (p.Glu131Lys)
c.724G>A (p.Ala242Thr)
c.877G>A (p.Ala293Thr)
c.829G>A (p.Ala277Thr)
c.712G>A (p.Ala238Thr)
c.712G>A (p.Glu238Lys)
 dbSNP gnomAD v4
3g.69949168G>CCA353561485MITFc.832G>C (p.Glu278Gln)
c.829G>C (p.Glu277Gln)
n.1054G>C
c.805G>C (p.Glu269Gln)
c.880G>C (p.Ala294Pro)
c.559G>C (p.Ala187Pro)
c.877G>C (p.Glu293Gln)
c.880G>C (p.Glu294Gln)
c.559G>C (p.Glu187Gln)
c.832G>C (p.Ala278Pro)
c.724G>C (p.Glu242Gln)
c.*206G>C (n.*206G>C)
c.391G>C (p.Glu131Gln)
c.724G>C (p.Ala242Pro)
c.877G>C (p.Ala293Pro)
c.829G>C (p.Ala277Pro)
c.712G>C (p.Ala238Pro)
c.712G>C (p.Glu238Gln)
3g.69949168G=CA1373440803MITFc.832G= (p.Glu278=)
c.829G= (p.Glu277=)
n.1054G=
c.805G= (p.Glu269=)
c.880G= (p.Ala294=)
c.559G= (p.Ala187=)
c.877G= (p.Glu293=)
c.880G= (p.Glu294=)
c.559G= (p.Glu187=)
c.832G= (p.Ala278=)
c.724G= (p.Glu242=)
c.*206G= (n.*206G=)
c.391G= (p.Glu131=)
c.724G= (p.Ala242=)
c.877G= (p.Ala293=)
c.829G= (p.Ala277=)
c.712G= (p.Ala238=)
c.712G= (p.Glu238=)
3g.69949168G>TCA353561486MITFc.832G>T (p.Glu278Ter)
c.829G>T (p.Glu277Ter)
n.1054G>T
c.805G>T (p.Glu269Ter)
c.880G>T (p.Ala294Ser)
c.559G>T (p.Ala187Ser)
c.877G>T (p.Glu293Ter)
c.880G>T (p.Glu294Ter)
c.559G>T (p.Glu187Ter)
c.832G>T (p.Ala278Ser)
c.724G>T (p.Glu242Ter)
c.*206G>T (n.*206G>T)
c.391G>T (p.Glu131Ter)
c.724G>T (p.Ala242Ser)
c.877G>T (p.Ala293Ser)
c.829G>T (p.Ala277Ser)
c.712G>T (p.Ala238Ser)
c.712G>T (p.Glu238Ter)
3g.69949169G>ACA353561487MITFc.832+1G>A (n.832+1G>A)
c.829+1G>A (n.829+1G>A)
n.1054+1G>A
c.805+1G>A (n.805+1G>A)
c.880+1G>A (n.880+1G>A)
c.559+1G>A (n.559+1G>A)
c.877+1G>A (n.877+1G>A)
c.724+1G>A (n.724+1G>A)
c.*206+1G>A (n.*206+1G>A)
c.391+1G>A (n.391+1G>A)
c.712+1G>A (n.712+1G>A)
 dbSNP gnomAD v4
3g.69949169G>CCA353561488MITFc.832+1G>C (n.832+1G>C)
c.829+1G>C (n.829+1G>C)
n.1054+1G>C
c.805+1G>C (n.805+1G>C)
c.880+1G>C (n.880+1G>C)
c.559+1G>C (n.559+1G>C)
c.877+1G>C (n.877+1G>C)
c.724+1G>C (n.724+1G>C)
c.*206+1G>C (n.*206+1G>C)
c.391+1G>C (n.391+1G>C)
c.712+1G>C (n.712+1G>C)
3g.69949169G>TCA353561489MITFc.832+1G>T (n.832+1G>T)
c.829+1G>T (n.829+1G>T)
n.1054+1G>T
c.805+1G>T (n.805+1G>T)
c.880+1G>T (n.880+1G>T)
c.559+1G>T (n.559+1G>T)
c.877+1G>T (n.877+1G>T)
c.724+1G>T (n.724+1G>T)
c.*206+1G>T (n.*206+1G>T)
c.391+1G>T (n.391+1G>T)
c.712+1G>T (n.712+1G>T)
3g.69949170T>ACA353561490MITFc.832+2T>A (n.832+2T>A)
c.829+2T>A (n.829+2T>A)
n.1054+2T>A
c.805+2T>A (n.805+2T>A)
c.880+2T>A (n.880+2T>A)
c.559+2T>A (n.559+2T>A)
c.877+2T>A (n.877+2T>A)
c.724+2T>A (n.724+2T>A)
c.*206+2T>A (n.*206+2T>A)
c.391+2T>A (n.391+2T>A)
c.712+2T>A (n.712+2T>A)
 dbSNP gnomAD v4
3g.69949170T>CCA353561491MITFc.832+2T>C (n.832+2T>C)
c.829+2T>C (n.829+2T>C)
n.1054+2T>C
c.805+2T>C (n.805+2T>C)
c.880+2T>C (n.880+2T>C)
c.559+2T>C (n.559+2T>C)
c.877+2T>C (n.877+2T>C)
c.724+2T>C (n.724+2T>C)
c.*206+2T>C (n.*206+2T>C)
c.391+2T>C (n.391+2T>C)
c.712+2T>C (n.712+2T>C)
3g.69949170T>GCA353561492MITFc.832+2T>G (n.832+2T>G)
c.829+2T>G (n.829+2T>G)
n.1054+2T>G
c.805+2T>G (n.805+2T>G)
c.880+2T>G (n.880+2T>G)
c.559+2T>G (n.559+2T>G)
c.877+2T>G (n.877+2T>G)
c.724+2T>G (n.724+2T>G)
c.*206+2T>G (n.*206+2T>G)
c.391+2T>G (n.391+2T>G)
c.712+2T>G (n.712+2T>G)
3g.69949171A>GCA2666480476MITFc.832+3A>G (n.832+3A>G)
c.829+3A>G (n.829+3A>G)
n.1054+3A>G
c.805+3A>G (n.805+3A>G)
c.880+3A>G (n.880+3A>G)
c.559+3A>G (n.559+3A>G)
c.877+3A>G (n.877+3A>G)
c.724+3A>G (n.724+3A>G)
c.*206+3A>G (n.*206+3A>G)
c.391+3A>G (n.391+3A>G)
c.712+3A>G (n.712+3A>G)
 gnomAD v4
3g.69949172A>CCA2666480477MITFc.832+4A>C (n.832+4A>C)
c.829+4A>C (n.829+4A>C)
n.1054+4A>C
c.805+4A>C (n.805+4A>C)
c.880+4A>C (n.880+4A>C)
c.559+4A>C (n.559+4A>C)
c.877+4A>C (n.877+4A>C)
c.724+4A>C (n.724+4A>C)
c.*206+4A>C (n.*206+4A>C)
c.391+4A>C (n.391+4A>C)
c.712+4A>C (n.712+4A>C)
 gnomAD v4
3g.69949173A=CA1373440807MITFc.832+5A= (n.832+5A=)
c.829+5A= (n.829+5A=)
n.1054+5A=
c.805+5A= (n.805+5A=)
c.880+5A= (n.880+5A=)
c.559+5A= (n.559+5A=)
c.877+5A= (n.877+5A=)
c.724+5A= (n.724+5A=)
c.*206+5A= (n.*206+5A=)
c.391+5A= (n.391+5A=)
c.712+5A= (n.712+5A=)
3g.69949173A>CCA2666480479MITFc.832+5A>C (n.832+5A>C)
c.829+5A>C (n.829+5A>C)
n.1054+5A>C
c.805+5A>C (n.805+5A>C)
c.880+5A>C (n.880+5A>C)
c.559+5A>C (n.559+5A>C)
c.877+5A>C (n.877+5A>C)
c.724+5A>C (n.724+5A>C)
c.*206+5A>C (n.*206+5A>C)
c.391+5A>C (n.391+5A>C)
c.712+5A>C (n.712+5A>C)
 gnomAD v4
3g.69949173A>GCA2490492MITFc.832+5A>G (n.832+5A>G)
c.829+5A>G (n.829+5A>G)
n.1054+5A>G
c.805+5A>G (n.805+5A>G)
c.880+5A>G (n.880+5A>G)
c.559+5A>G (n.559+5A>G)
c.877+5A>G (n.877+5A>G)
c.724+5A>G (n.724+5A>G)
c.*206+5A>G (n.*206+5A>G)
c.391+5A>G (n.391+5A>G)
c.712+5A>G (n.712+5A>G)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
3g.69949174C>ACA1049246815MITFc.832+6C>A (n.832+6C>A)
c.829+6C>A (n.829+6C>A)
n.1054+6C>A
c.805+6C>A (n.805+6C>A)
c.880+6C>A (n.880+6C>A)
c.559+6C>A (n.559+6C>A)
c.877+6C>A (n.877+6C>A)
c.724+6C>A (n.724+6C>A)
c.*206+6C>A (n.*206+6C>A)
c.391+6C>A (n.391+6C>A)
c.712+6C>A (n.712+6C>A)
 dbSNP gnomAD v3 gnomAD v4
3g.69949174C=CA1373440809MITFc.832+6C= (n.832+6C=)
c.829+6C= (n.829+6C=)
n.1054+6C=
c.805+6C= (n.805+6C=)
c.880+6C= (n.880+6C=)
c.559+6C= (n.559+6C=)
c.877+6C= (n.877+6C=)
c.724+6C= (n.724+6C=)
c.*206+6C= (n.*206+6C=)
c.391+6C= (n.391+6C=)
c.712+6C= (n.712+6C=)
3g.69949174C>GCA2740094493MITFc.832+6C>G (n.832+6C>G)
c.829+6C>G (n.829+6C>G)
n.1054+6C>G
c.805+6C>G (n.805+6C>G)
c.880+6C>G (n.880+6C>G)
c.559+6C>G (n.559+6C>G)
c.877+6C>G (n.877+6C>G)
c.724+6C>G (n.724+6C>G)
c.*206+6C>G (n.*206+6C>G)
c.391+6C>G (n.391+6C>G)
c.712+6C>G (n.712+6C>G)
 ClinVar
3g.69949174C>TCA2577819590MITFc.832+6C>T (n.832+6C>T)
c.829+6C>T (n.829+6C>T)
n.1054+6C>T
c.805+6C>T (n.805+6C>T)
c.880+6C>T (n.880+6C>T)
c.559+6C>T (n.559+6C>T)
c.877+6C>T (n.877+6C>T)
c.724+6C>T (n.724+6C>T)
c.*206+6C>T (n.*206+6C>T)
c.391+6C>T (n.391+6C>T)
c.712+6C>T (n.712+6C>T)
3g.69949175A>GCA2666480480MITFc.832+7A>G (n.832+7A>G)
c.829+7A>G (n.829+7A>G)
n.1054+7A>G
c.805+7A>G (n.805+7A>G)
c.880+7A>G (n.880+7A>G)
c.559+7A>G (n.559+7A>G)
c.877+7A>G (n.877+7A>G)
c.724+7A>G (n.724+7A>G)
c.*206+7A>G (n.*206+7A>G)
c.391+7A>G (n.391+7A>G)
c.712+7A>G (n.712+7A>G)
 ClinVar gnomAD v4
3g.69949176C>ACA2666480481MITFc.832+8C>A (n.832+8C>A)
c.829+8C>A (n.829+8C>A)
n.1054+8C>A
c.805+8C>A (n.805+8C>A)
c.880+8C>A (n.880+8C>A)
c.559+8C>A (n.559+8C>A)
c.877+8C>A (n.877+8C>A)
c.724+8C>A (n.724+8C>A)
c.*206+8C>A (n.*206+8C>A)
c.391+8C>A (n.391+8C>A)
c.712+8C>A (n.712+8C>A)
 gnomAD v4
3g.69949176C=CA1373440810MITFc.832+8C= (n.832+8C=)
c.829+8C= (n.829+8C=)
n.1054+8C=
c.805+8C= (n.805+8C=)
c.880+8C= (n.880+8C=)
c.559+8C= (n.559+8C=)
c.877+8C= (n.877+8C=)
c.724+8C= (n.724+8C=)
c.*206+8C= (n.*206+8C=)
c.391+8C= (n.391+8C=)
c.712+8C= (n.712+8C=)
3g.69949176C>TCA1049246820MITFc.832+8C>T (n.832+8C>T)
c.829+8C>T (n.829+8C>T)
n.1054+8C>T
c.805+8C>T (n.805+8C>T)
c.880+8C>T (n.880+8C>T)
c.559+8C>T (n.559+8C>T)
c.877+8C>T (n.877+8C>T)
c.724+8C>T (n.724+8C>T)
c.*206+8C>T (n.*206+8C>T)
c.391+8C>T (n.391+8C>T)
c.712+8C>T (n.712+8C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.69949177C>ACA2666480486MITFc.832+9C>A (n.832+9C>A)
c.829+9C>A (n.829+9C>A)
n.1054+9C>A
c.805+9C>A (n.805+9C>A)
c.880+9C>A (n.880+9C>A)
c.559+9C>A (n.559+9C>A)
c.877+9C>A (n.877+9C>A)
c.724+9C>A (n.724+9C>A)
c.*206+9C>A (n.*206+9C>A)
c.391+9C>A (n.391+9C>A)
c.712+9C>A (n.712+9C>A)
 gnomAD v4
3g.69949177C=CA1373440814MITFc.832+9C= (n.832+9C=)
c.829+9C= (n.829+9C=)
n.1054+9C=
c.805+9C= (n.805+9C=)
c.880+9C= (n.880+9C=)
c.559+9C= (n.559+9C=)
c.877+9C= (n.877+9C=)
c.724+9C= (n.724+9C=)
c.*206+9C= (n.*206+9C=)
c.391+9C= (n.391+9C=)
c.712+9C= (n.712+9C=)
3g.69949177C>GCA2490493MITFc.832+9C>G (n.832+9C>G)
c.829+9C>G (n.829+9C>G)
n.1054+9C>G
c.805+9C>G (n.805+9C>G)
c.880+9C>G (n.880+9C>G)
c.559+9C>G (n.559+9C>G)
c.877+9C>G (n.877+9C>G)
c.724+9C>G (n.724+9C>G)
c.*206+9C>G (n.*206+9C>G)
c.391+9C>G (n.391+9C>G)
c.712+9C>G (n.712+9C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69949179A=CA1373440816MITFc.832+11A= (n.832+11A=)
c.829+11A= (n.829+11A=)
n.1054+11A=
c.805+11A= (n.805+11A=)
c.880+11A= (n.880+11A=)
c.559+11A= (n.559+11A=)
c.877+11A= (n.877+11A=)
c.724+11A= (n.724+11A=)
c.*206+11A= (n.*206+11A=)
c.391+11A= (n.391+11A=)
c.712+11A= (n.712+11A=)
3g.69949179A>GCA1049246832MITFc.832+11A>G (n.832+11A>G)
c.829+11A>G (n.829+11A>G)
n.1054+11A>G
c.805+11A>G (n.805+11A>G)
c.880+11A>G (n.880+11A>G)
c.559+11A>G (n.559+11A>G)
c.877+11A>G (n.877+11A>G)
c.724+11A>G (n.724+11A>G)
c.*206+11A>G (n.*206+11A>G)
c.391+11A>G (n.391+11A>G)
c.712+11A>G (n.712+11A>G)
 dbSNP gnomAD v3 gnomAD v4
3g.69949180G=CA1373440818MITFc.832+12G= (n.832+12G=)
c.829+12G= (n.829+12G=)
n.1054+12G=
c.805+12G= (n.805+12G=)
c.880+12G= (n.880+12G=)
c.559+12G= (n.559+12G=)
c.877+12G= (n.877+12G=)
c.724+12G= (n.724+12G=)
c.*206+12G= (n.*206+12G=)
c.391+12G= (n.391+12G=)
c.712+12G= (n.712+12G=)
3g.69949180G>TCA2490494MITFc.832+12G>T (n.832+12G>T)
c.829+12G>T (n.829+12G>T)
n.1054+12G>T
c.805+12G>T (n.805+12G>T)
c.880+12G>T (n.880+12G>T)
c.559+12G>T (n.559+12G>T)
c.877+12G>T (n.877+12G>T)
c.724+12G>T (n.724+12G>T)
c.*206+12G>T (n.*206+12G>T)
c.391+12G>T (n.391+12G>T)
c.712+12G>T (n.712+12G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69949182A=CA1373440820MITFc.832+14A= (n.832+14A=)
c.829+14A= (n.829+14A=)
n.1054+14A=
c.805+14A= (n.805+14A=)
c.880+14A= (n.880+14A=)
c.559+14A= (n.559+14A=)
c.877+14A= (n.877+14A=)
c.724+14A= (n.724+14A=)
c.*206+14A= (n.*206+14A=)
c.391+14A= (n.391+14A=)
c.712+14A= (n.712+14A=)
3g.69949182A>CCA1373440821MITFc.832+14A>C (n.832+14A>C)
c.829+14A>C (n.829+14A>C)
n.1054+14A>C
c.805+14A>C (n.805+14A>C)
c.880+14A>C (n.880+14A>C)
c.559+14A>C (n.559+14A>C)
c.877+14A>C (n.877+14A>C)
c.724+14A>C (n.724+14A>C)
c.*206+14A>C (n.*206+14A>C)
c.391+14A>C (n.391+14A>C)
c.712+14A>C (n.712+14A>C)
 dbSNP gnomAD v4
3g.69949182A>TCA2577819591MITFc.832+14A>T (n.832+14A>T)
c.829+14A>T (n.829+14A>T)
n.1054+14A>T
c.805+14A>T (n.805+14A>T)
c.880+14A>T (n.880+14A>T)
c.559+14A>T (n.559+14A>T)
c.877+14A>T (n.877+14A>T)
c.724+14A>T (n.724+14A>T)
c.*206+14A>T (n.*206+14A>T)
c.391+14A>T (n.391+14A>T)
c.712+14A>T (n.712+14A>T)
3g.69949183A>TCA2756711115MITFc.832+15A>T (n.832+15A>T)
c.829+15A>T (n.829+15A>T)
n.1054+15A>T
c.805+15A>T (n.805+15A>T)
c.880+15A>T (n.880+15A>T)
c.559+15A>T (n.559+15A>T)
c.877+15A>T (n.877+15A>T)
c.724+15A>T (n.724+15A>T)
c.*206+15A>T (n.*206+15A>T)
c.391+15A>T (n.391+15A>T)
c.712+15A>T (n.712+15A>T)
3g.69949184A>GCA2666480491MITFc.832+16A>G (n.832+16A>G)
c.829+16A>G (n.829+16A>G)
n.1054+16A>G
c.805+16A>G (n.805+16A>G)
c.880+16A>G (n.880+16A>G)
c.559+16A>G (n.559+16A>G)
c.877+16A>G (n.877+16A>G)
c.724+16A>G (n.724+16A>G)
c.*206+16A>G (n.*206+16A>G)
c.391+16A>G (n.391+16A>G)
c.712+16A>G (n.712+16A>G)
 gnomAD v4
3g.69949185T>CCA2666480492MITFc.832+17T>C (n.832+17T>C)
c.829+17T>C (n.829+17T>C)
n.1054+17T>C
c.805+17T>C (n.805+17T>C)
c.880+17T>C (n.880+17T>C)
c.559+17T>C (n.559+17T>C)
c.877+17T>C (n.877+17T>C)
c.724+17T>C (n.724+17T>C)
c.*206+17T>C (n.*206+17T>C)
c.391+17T>C (n.391+17T>C)
c.712+17T>C (n.712+17T>C)
 gnomAD v4
3g.69949186G>ACA543812520MITFc.832+18G>A (n.832+18G>A)
c.829+18G>A (n.829+18G>A)
n.1054+18G>A
c.805+18G>A (n.805+18G>A)
c.880+18G>A (n.880+18G>A)
c.559+18G>A (n.559+18G>A)
c.877+18G>A (n.877+18G>A)
c.724+18G>A (n.724+18G>A)
c.*206+18G>A (n.*206+18G>A)
c.391+18G>A (n.391+18G>A)
c.712+18G>A (n.712+18G>A)
 dbSNP gnomAD v2
3g.69949186G>CCA2666480495MITFc.832+18G>C (n.832+18G>C)
c.829+18G>C (n.829+18G>C)
n.1054+18G>C
c.805+18G>C (n.805+18G>C)
c.880+18G>C (n.880+18G>C)
c.559+18G>C (n.559+18G>C)
c.877+18G>C (n.877+18G>C)
c.724+18G>C (n.724+18G>C)
c.*206+18G>C (n.*206+18G>C)
c.391+18G>C (n.391+18G>C)
c.712+18G>C (n.712+18G>C)
 gnomAD v4
3g.69949186G=CA1373440823MITFc.832+18G= (n.832+18G=)
c.829+18G= (n.829+18G=)
n.1054+18G=
c.805+18G= (n.805+18G=)
c.880+18G= (n.880+18G=)
c.559+18G= (n.559+18G=)
c.877+18G= (n.877+18G=)
c.724+18G= (n.724+18G=)
c.*206+18G= (n.*206+18G=)
c.391+18G= (n.391+18G=)
c.712+18G= (n.712+18G=)

Number of alleles fetched