Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.55957209T>ACA385217336PMELc.1094A>T (p.Gln365Leu)
c.932A>T (p.Gln311Leu)
c.647A>T (p.Gln216Leu)
c.756A>T
n.134A>T
c.358+1264A>T (n.358+1264A>T)
c.836A>T (p.Gln279Leu)
12g.55957209T>CCA385217337PMELc.1094A>G (p.Gln365Arg)
c.932A>G (p.Gln311Arg)
c.647A>G (p.Gln216Arg)
c.756A>G
n.134A>G
c.358+1264A>G (n.358+1264A>G)
c.836A>G (p.Gln279Arg)
 dbSNP gnomAD v2 gnomAD v4
12g.55957209T>GCA385217338PMELc.1094A>C (p.Gln365Pro)
c.932A>C (p.Gln311Pro)
c.647A>C (p.Gln216Pro)
c.756A>C
n.134A>C
c.358+1264A>C (n.358+1264A>C)
c.836A>C (p.Gln279Pro)
12g.55957209T=CA2038181304PMELc.1094A= (p.Gln365=)
c.932A= (p.Gln311=)
c.647A= (p.Gln216=)
c.756A=
n.134A=
c.358+1264A= (n.358+1264A=)
c.836A= (p.Gln279=)
12g.55957210G>ACA385217343PMELc.1093C>T (p.Gln365Ter)
c.931C>T (p.Gln311Ter)
c.646C>T (p.Gln216Ter)
c.755C>T
n.133C>T
c.358+1263C>T (n.358+1263C>T)
c.835C>T (p.Gln279Ter)
 COSMIC COSMIC
12g.55957210G>CCA385217342PMELc.1093C>G (p.Gln365Glu)
c.931C>G (p.Gln311Glu)
c.646C>G (p.Gln216Glu)
c.755C>G
n.133C>G
c.358+1263C>G (n.358+1263C>G)
c.835C>G (p.Gln279Glu)
12g.55957210G>TCA385217340PMELc.1093C>A (p.Gln365Lys)
c.931C>A (p.Gln311Lys)
c.646C>A (p.Gln216Lys)
c.755C>A
n.133C>A
c.358+1263C>A (n.358+1263C>A)
c.835C>A (p.Gln279Lys)
12g.55957211C>ACA480365028PMELc.1092G>T (p.Val364=)
c.930G>T (p.Val310=)
c.645G>T (p.Val215=)
c.754G>T
n.132G>T
c.358+1262G>T (n.358+1262G>T)
c.834G>T (p.Val278=)
12g.55957211C>GCA480365029PMELc.1092G>C (p.Val364=)
c.930G>C (p.Val310=)
c.645G>C (p.Val215=)
c.754G>C
n.132G>C
c.358+1262G>C (n.358+1262G>C)
c.834G>C (p.Val278=)
12g.55957211C>TCA480365031PMELc.1092G>A (p.Val364=)
c.930G>A (p.Val310=)
c.645G>A (p.Val215=)
c.754G>A
n.132G>A
c.358+1262G>A (n.358+1262G>A)
c.834G>A (p.Val278=)
12g.55957212A>CCA385217345PMELc.1091T>G (p.Val364Gly)
c.929T>G (p.Val310Gly)
c.644T>G (p.Val215Gly)
c.753T>G
n.131T>G
c.358+1261T>G (n.358+1261T>G)
c.833T>G (p.Val278Gly)
12g.55957212A>GCA385217346PMELc.1091T>C (p.Val364Ala)
c.929T>C (p.Val310Ala)
c.644T>C (p.Val215Ala)
c.753T>C
n.131T>C
c.358+1261T>C (n.358+1261T>C)
c.833T>C (p.Val278Ala)
 gnomAD v4
12g.55957212A>TCA385217347PMELc.1091T>A (p.Val364Glu)
c.929T>A (p.Val310Glu)
c.644T>A (p.Val215Glu)
c.753T>A
n.131T>A
c.358+1261T>A (n.358+1261T>A)
c.833T>A (p.Val278Glu)
12g.55957213C>ACA385217349PMELc.1090G>T (p.Val364Leu)
c.928G>T (p.Val310Leu)
c.643G>T (p.Val215Leu)
c.752G>T
n.130G>T
c.358+1260G>T (n.358+1260G>T)
c.832G>T (p.Val278Leu)
12g.55957213C>GCA385217350PMELc.1090G>C (p.Val364Leu)
c.928G>C (p.Val310Leu)
c.643G>C (p.Val215Leu)
c.752G>C
n.130G>C
c.358+1260G>C (n.358+1260G>C)
c.832G>C (p.Val278Leu)
12g.55957213C>TCA385217352PMELc.1090G>A (p.Val364Met)
c.928G>A (p.Val310Met)
c.643G>A (p.Val215Met)
c.752G>A
n.130G>A
c.358+1260G>A (n.358+1260G>A)
c.832G>A (p.Val278Met)
 gnomAD v4
12g.55957214A>CCA480365039PMELc.1089T>G (p.Pro363=)
c.927T>G (p.Pro309=)
c.642T>G (p.Pro214=)
c.751T>G
n.129T>G
c.358+1259T>G (n.358+1259T>G)
c.831T>G (p.Pro277=)
12g.55957214A>GCA480365041PMELc.1089T>C (p.Pro363=)
c.927T>C (p.Pro309=)
c.642T>C (p.Pro214=)
c.751T>C
n.129T>C
c.358+1259T>C (n.358+1259T>C)
c.831T>C (p.Pro277=)
12g.55957214A>TCA480365043PMELc.1089T>A (p.Pro363=)
c.927T>A (p.Pro309=)
c.642T>A (p.Pro214=)
c.751T>A
n.129T>A
c.358+1259T>A (n.358+1259T>A)
c.831T>A (p.Pro277=)
12g.55957215G>ACA385217357PMELc.1088C>T (p.Pro363Leu)
c.926C>T (p.Pro309Leu)
c.641C>T (p.Pro214Leu)
c.750C>T
n.128C>T
c.358+1258C>T (n.358+1258C>T)
c.830C>T (p.Pro277Leu)
12g.55957215G>CCA385217353PMELc.1088C>G (p.Pro363Arg)
c.926C>G (p.Pro309Arg)
c.641C>G (p.Pro214Arg)
c.750C>G
n.128C>G
c.358+1258C>G (n.358+1258C>G)
c.830C>G (p.Pro277Arg)
12g.55957215G>TCA385217354PMELc.1088C>A (p.Pro363His)
c.926C>A (p.Pro309His)
c.641C>A (p.Pro214His)
c.750C>A
n.128C>A
c.358+1258C>A (n.358+1258C>A)
c.830C>A (p.Pro277His)
12g.55957216G>ACA6620071PMELc.1087C>T (p.Pro363Ser)
c.925C>T (p.Pro309Ser)
c.640C>T (p.Pro214Ser)
c.749C>T
n.127C>T
c.358+1257C>T (n.358+1257C>T)
c.829C>T (p.Pro277Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55957216G>CCA385217359PMELc.1087C>G (p.Pro363Ala)
c.925C>G (p.Pro309Ala)
c.640C>G (p.Pro214Ala)
c.749C>G
n.127C>G
c.358+1257C>G (n.358+1257C>G)
c.829C>G (p.Pro277Ala)
12g.55957216G=CA2038181311PMELc.1087C= (p.Pro363=)
c.925C= (p.Pro309=)
c.640C= (p.Pro214=)
c.749C=
n.127C=
c.358+1257C= (n.358+1257C=)
c.829C= (p.Pro277=)
12g.55957216G>TCA385217368PMELc.1087C>A (p.Pro363Thr)
c.925C>A (p.Pro309Thr)
c.640C>A (p.Pro214Thr)
c.749C>A
n.127C>A
c.358+1257C>A (n.358+1257C>A)
c.829C>A (p.Pro277Thr)
12g.55957217T>ACA480365046PMELc.1086A>T (p.Ala362=)
c.924A>T (p.Ala308=)
c.639A>T (p.Ala213=)
c.748A>T
n.126A>T
c.358+1256A>T (n.358+1256A>T)
c.828A>T (p.Ala276=)
12g.55957217T>CCA480365048PMELc.1086A>G (p.Ala362=)
c.924A>G (p.Ala308=)
c.639A>G (p.Ala213=)
c.748A>G
n.126A>G
c.358+1256A>G (n.358+1256A>G)
c.828A>G (p.Ala276=)
 dbSNP gnomAD v4
12g.55957217T>GCA480365049PMELc.1086A>C (p.Ala362=)
c.924A>C (p.Ala308=)
c.639A>C (p.Ala213=)
c.748A>C
n.126A>C
c.358+1256A>C (n.358+1256A>C)
c.828A>C (p.Ala276=)
12g.55957217T=CA2038181316PMELc.1086A= (p.Ala362=)
c.924A= (p.Ala308=)
c.639A= (p.Ala213=)
c.748A=
n.126A=
c.358+1256A= (n.358+1256A=)
c.828A= (p.Ala276=)
12g.55957218G>ACA6620072PMELc.1085C>T (p.Ala362Val)
c.923C>T (p.Ala308Val)
c.638C>T (p.Ala213Val)
c.747C>T
n.125C>T
c.358+1255C>T (n.358+1255C>T)
c.827C>T (p.Ala276Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55957218G>CCA385217371PMELc.1085C>G (p.Ala362Gly)
c.923C>G (p.Ala308Gly)
c.638C>G (p.Ala213Gly)
c.747C>G
n.125C>G
c.358+1255C>G (n.358+1255C>G)
c.827C>G (p.Ala276Gly)
12g.55957218G=CA2038181325PMELc.1085C= (p.Ala362=)
c.923C= (p.Ala308=)
c.638C= (p.Ala213=)
c.747C=
n.125C=
c.358+1255C= (n.358+1255C=)
c.827C= (p.Ala276=)
12g.55957218G>TCA385217373PMELc.1085C>A (p.Ala362Glu)
c.923C>A (p.Ala308Glu)
c.638C>A (p.Ala213Glu)
c.747C>A
n.125C>A
c.358+1255C>A (n.358+1255C>A)
c.827C>A (p.Ala276Glu)
12g.55957219C>ACA385217374PMELc.1084G>T (p.Ala362Ser)
c.922G>T (p.Ala308Ser)
c.637G>T (p.Ala213Ser)
c.746G>T
n.124G>T
c.358+1254G>T (n.358+1254G>T)
c.826G>T (p.Ala276Ser)
12g.55957219C=CA2038181336PMELc.1084G= (p.Ala362=)
c.922G= (p.Ala308=)
c.637G= (p.Ala213=)
c.746G=
n.124G=
c.358+1254G= (n.358+1254G=)
c.826G= (p.Ala276=)
12g.55957219C>GCA385217375PMELc.1084G>C (p.Ala362Pro)
c.922G>C (p.Ala308Pro)
c.637G>C (p.Ala213Pro)
c.746G>C
n.124G>C
c.358+1254G>C (n.358+1254G>C)
c.826G>C (p.Ala276Pro)
12g.55957219C>TCA6620073PMELc.1084G>A (p.Ala362Thr)
c.922G>A (p.Ala308Thr)
c.637G>A (p.Ala213Thr)
c.746G>A
n.124G>A
c.358+1254G>A (n.358+1254G>A)
c.826G>A (p.Ala276Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55957220A=CA2038181344PMELc.1083T= (p.Thr361=)
c.921T= (p.Thr307=)
c.636T= (p.Thr212=)
c.745T=
n.123T=
c.358+1253T= (n.358+1253T=)
c.825T= (p.Thr275=)
12g.55957220A>CCA480365056PMELc.1083T>G (p.Thr361=)
c.921T>G (p.Thr307=)
c.636T>G (p.Thr212=)
c.745T>G
n.123T>G
c.358+1253T>G (n.358+1253T>G)
c.825T>G (p.Thr275=)
12g.55957220A>GCA480365057PMELc.1083T>C (p.Thr361=)
c.921T>C (p.Thr307=)
c.636T>C (p.Thr212=)
c.745T>C
n.123T>C
c.358+1253T>C (n.358+1253T>C)
c.825T>C (p.Thr275=)
 dbSNP gnomAD v4 COSMIC COSMIC
12g.55957220A>TCA480365053PMELc.1083T>A (p.Thr361=)
c.921T>A (p.Thr307=)
c.636T>A (p.Thr212=)
c.745T>A
n.123T>A
c.358+1253T>A (n.358+1253T>A)
c.825T>A (p.Thr275=)
12g.55957221_55957230delCA2575274098PMELc.1074_1083del (p.Ile359HisfsTer13)
c.912_921del (p.Ile305HisfsTer13)
c.627_636del (p.Ile210HisfsTer15)
c.736_745del
n.114_123del
c.358+1244_358+1253del (n.358+1244_358+1253del)
c.816_825del (p.Ile273HisfsTer13)
c.1074_1083del (p.Ile359HisfsTer15)
12g.55957221G>ACA385217379PMELc.1082C>T (p.Thr361Ile)
c.920C>T (p.Thr307Ile)
c.635C>T (p.Thr212Ile)
c.744C>T
n.122C>T
c.358+1252C>T (n.358+1252C>T)
c.824C>T (p.Thr275Ile)
 gnomAD v4
12g.55957221G>CCA385217380PMELc.1082C>G (p.Thr361Ser)
c.920C>G (p.Thr307Ser)
c.635C>G (p.Thr212Ser)
c.744C>G
n.122C>G
c.358+1252C>G (n.358+1252C>G)
c.824C>G (p.Thr275Ser)
12g.55957221G>TCA385217381PMELc.1082C>A (p.Thr361Asn)
c.920C>A (p.Thr307Asn)
c.635C>A (p.Thr212Asn)
c.744C>A
n.122C>A
c.358+1252C>A (n.358+1252C>A)
c.824C>A (p.Thr275Asn)
12g.55957222T>ACA385217386PMELc.1081A>T (p.Thr361Ser)
c.919A>T (p.Thr307Ser)
c.634A>T (p.Thr212Ser)
c.743A>T
n.121A>T
c.358+1251A>T (n.358+1251A>T)
c.823A>T (p.Thr275Ser)
12g.55957222T>CCA385217383PMELc.1081A>G (p.Thr361Ala)
c.919A>G (p.Thr307Ala)
c.634A>G (p.Thr212Ala)
c.743A>G
n.121A>G
c.358+1251A>G (n.358+1251A>G)
c.823A>G (p.Thr275Ala)
12g.55957222T>GCA385217385PMELc.1081A>C (p.Thr361Pro)
c.919A>C (p.Thr307Pro)
c.634A>C (p.Thr212Pro)
c.743A>C
n.121A>C
c.358+1251A>C (n.358+1251A>C)
c.823A>C (p.Thr275Pro)
12g.55957223G>ACA6620074PMELc.1080C>T (p.Ser360=)
c.918C>T (p.Ser306=)
c.633C>T (p.Ser211=)
c.742C>T
n.120C>T
c.358+1250C>T (n.358+1250C>T)
c.822C>T (p.Ser274=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55957223G>CCA385217388PMELc.1080C>G (p.Ser360Arg)
c.918C>G (p.Ser306Arg)
c.633C>G (p.Ser211Arg)
c.742C>G
n.120C>G
c.358+1250C>G (n.358+1250C>G)
c.822C>G (p.Ser274Arg)
12g.55957223G=CA2038181348PMELc.1080C= (p.Ser360=)
c.918C= (p.Ser306=)
c.633C= (p.Ser211=)
c.742C=
n.120C=
c.358+1250C= (n.358+1250C=)
c.822C= (p.Ser274=)
12g.55957223G>TCA385217389PMELc.1080C>A (p.Ser360Arg)
c.918C>A (p.Ser306Arg)
c.633C>A (p.Ser211Arg)
c.742C>A
n.120C>A
c.358+1250C>A (n.358+1250C>A)
c.822C>A (p.Ser274Arg)
12g.55957224C>ACA385217392PMELc.1079G>T (p.Ser360Ile)
c.917G>T (p.Ser306Ile)
c.632G>T (p.Ser211Ile)
c.741G>T
n.119G>T
c.358+1249G>T (n.358+1249G>T)
c.821G>T (p.Ser274Ile)
12g.55957224C=CA2038181351PMELc.1079G= (p.Ser360=)
c.917G= (p.Ser306=)
c.632G= (p.Ser211=)
c.741G=
n.119G=
c.358+1249G= (n.358+1249G=)
c.821G= (p.Ser274=)
12g.55957224C>GCA385217393PMELc.1079G>C (p.Ser360Thr)
c.917G>C (p.Ser306Thr)
c.632G>C (p.Ser211Thr)
c.741G>C
n.119G>C
c.358+1249G>C (n.358+1249G>C)
c.821G>C (p.Ser274Thr)
 gnomAD v4
12g.55957224C>TCA385217395PMELc.1079G>A (p.Ser360Asn)
c.917G>A (p.Ser306Asn)
c.632G>A (p.Ser211Asn)
c.741G>A
n.119G>A
c.358+1249G>A (n.358+1249G>A)
c.821G>A (p.Ser274Asn)
 dbSNP gnomAD v2 gnomAD v4
12g.55957225T>ACA385217397PMELc.1078A>T (p.Ser360Cys)
c.916A>T (p.Ser306Cys)
c.631A>T (p.Ser211Cys)
c.740A>T
n.118A>T
c.358+1248A>T (n.358+1248A>T)
c.820A>T (p.Ser274Cys)
12g.55957225T>CCA385217399PMELc.1078A>G (p.Ser360Gly)
c.916A>G (p.Ser306Gly)
c.631A>G (p.Ser211Gly)
c.740A>G
n.118A>G
c.358+1248A>G (n.358+1248A>G)
c.820A>G (p.Ser274Gly)
12g.55957225T>GCA385217401PMELc.1078A>C (p.Ser360Arg)
c.916A>C (p.Ser306Arg)
c.631A>C (p.Ser211Arg)
c.740A>C
n.118A>C
c.358+1248A>C (n.358+1248A>C)
c.820A>C (p.Ser274Arg)
12g.55957226T>ACA480365067PMELc.1077A>T (p.Ile359=)
c.915A>T (p.Ile305=)
c.630A>T (p.Ile210=)
c.739A>T
n.117A>T
c.358+1247A>T (n.358+1247A>T)
c.819A>T (p.Ile273=)
12g.55957226T>CCA385217403PMELc.1077A>G (p.Ile359Met)
c.915A>G (p.Ile305Met)
c.630A>G (p.Ile210Met)
c.739A>G
n.117A>G
c.358+1247A>G (n.358+1247A>G)
c.819A>G (p.Ile273Met)
12g.55957226T>GCA480365068PMELc.1077A>C (p.Ile359=)
c.915A>C (p.Ile305=)
c.630A>C (p.Ile210=)
c.739A>C
n.117A>C
c.358+1247A>C (n.358+1247A>C)
c.819A>C (p.Ile273=)
12g.55957227A>CCA385217405PMELc.1076T>G (p.Ile359Arg)
c.914T>G (p.Ile305Arg)
c.629T>G (p.Ile210Arg)
c.738T>G
n.116T>G
c.358+1246T>G (n.358+1246T>G)
c.818T>G (p.Ile273Arg)
12g.55957227A>GCA385217406PMELc.1076T>C (p.Ile359Thr)
c.914T>C (p.Ile305Thr)
c.629T>C (p.Ile210Thr)
c.738T>C
n.116T>C
c.358+1246T>C (n.358+1246T>C)
c.818T>C (p.Ile273Thr)
12g.55957227A>TCA385217407PMELc.1076T>A (p.Ile359Lys)
c.914T>A (p.Ile305Lys)
c.629T>A (p.Ile210Lys)
c.738T>A
n.116T>A
c.358+1246T>A (n.358+1246T>A)
c.818T>A (p.Ile273Lys)
12g.55957228T>ACA385217412PMELc.1075A>T (p.Ile359Leu)
c.913A>T (p.Ile305Leu)
c.628A>T (p.Ile210Leu)
c.737A>T
n.115A>T
c.358+1245A>T (n.358+1245A>T)
c.817A>T (p.Ile273Leu)
12g.55957228T>CCA385217409PMELc.1075A>G (p.Ile359Val)
c.913A>G (p.Ile305Val)
c.628A>G (p.Ile210Val)
c.737A>G
n.115A>G
c.358+1245A>G (n.358+1245A>G)
c.817A>G (p.Ile273Val)
12g.55957228T>GCA385217410PMELc.1075A>C (p.Ile359Leu)
c.913A>C (p.Ile305Leu)
c.628A>C (p.Ile210Leu)
c.737A>C
n.115A>C
c.358+1245A>C (n.358+1245A>C)
c.817A>C (p.Ile273Leu)
12g.55957229G>ACA480365074PMELc.1074C>T (p.Val358=)
c.912C>T (p.Val304=)
c.627C>T (p.Val209=)
c.736C>T
n.114C>T
c.358+1244C>T (n.358+1244C>T)
c.816C>T (p.Val272=)
12g.55957229G>CCA480365076PMELc.1074C>G (p.Val358=)
c.912C>G (p.Val304=)
c.627C>G (p.Val209=)
c.736C>G
n.114C>G
c.358+1244C>G (n.358+1244C>G)
c.816C>G (p.Val272=)
12g.55957229G=CA2038181358PMELc.1074C= (p.Val358=)
c.912C= (p.Val304=)
c.627C= (p.Val209=)
c.736C=
n.114C=
c.358+1244C= (n.358+1244C=)
c.816C= (p.Val272=)
12g.55957229G>TCA6620075PMELc.1074C>A (p.Val358=)
c.912C>A (p.Val304=)
c.627C>A (p.Val209=)
c.736C>A
n.114C>A
c.358+1244C>A (n.358+1244C>A)
c.816C>A (p.Val272=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55957230A=CA2038181363PMELc.1073T= (p.Val358=)
c.911T= (p.Val304=)
c.626T= (p.Val209=)
c.735T=
n.113T=
c.358+1243T= (n.358+1243T=)
c.815T= (p.Val272=)
12g.55957230A>CCA385217415PMELc.1073T>G (p.Val358Gly)
c.911T>G (p.Val304Gly)
c.626T>G (p.Val209Gly)
c.735T>G
n.113T>G
c.358+1243T>G (n.358+1243T>G)
c.815T>G (p.Val272Gly)
12g.55957230A>GCA6620076PMELc.1073T>C (p.Val358Ala)
c.911T>C (p.Val304Ala)
c.626T>C (p.Val209Ala)
c.735T>C
n.113T>C
c.358+1243T>C (n.358+1243T>C)
c.815T>C (p.Val272Ala)
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.55957230A>TCA385217417PMELc.1073T>A (p.Val358Asp)
c.911T>A (p.Val304Asp)
c.626T>A (p.Val209Asp)
c.735T>A
n.113T>A
c.358+1243T>A (n.358+1243T>A)
c.815T>A (p.Val272Asp)
12g.55957231C>ACA385217418PMELc.1072G>T (p.Val358Phe)
c.910G>T (p.Val304Phe)
c.625G>T (p.Val209Phe)
c.734G>T
n.112G>T
c.358+1242G>T (n.358+1242G>T)
c.814G>T (p.Val272Phe)
12g.55957231C>GCA385217419PMELc.1072G>C (p.Val358Leu)
c.910G>C (p.Val304Leu)
c.625G>C (p.Val209Leu)
c.734G>C
n.112G>C
c.358+1242G>C (n.358+1242G>C)
c.814G>C (p.Val272Leu)
12g.55957231C>TCA385217420PMELc.1072G>A (p.Val358Ile)
c.910G>A (p.Val304Ile)
c.625G>A (p.Val209Ile)
c.734G>A
n.112G>A
c.358+1242G>A (n.358+1242G>A)
c.814G>A (p.Val272Ile)
12g.55957232T>ACA385217422PMELc.1071A>T (p.Glu357Asp)
c.909A>T (p.Glu303Asp)
c.624A>T (p.Glu208Asp)
c.733A>T
n.111A>T
c.358+1241A>T (n.358+1241A>T)
c.813A>T (p.Glu271Asp)
12g.55957232T>CCA480364793PMELc.1071A>G (p.Glu357=)
c.909A>G (p.Glu303=)
c.624A>G (p.Glu208=)
c.733A>G
n.111A>G
c.358+1241A>G (n.358+1241A>G)
c.813A>G (p.Glu271=)
12g.55957232T>GCA385217424PMELc.1071A>C (p.Glu357Asp)
c.909A>C (p.Glu303Asp)
c.624A>C (p.Glu208Asp)
c.733A>C
n.111A>C
c.358+1241A>C (n.358+1241A>C)
c.813A>C (p.Glu271Asp)
12g.55957233T>ACA385217425PMELc.1070A>T (p.Glu357Val)
c.908A>T (p.Glu303Val)
c.623A>T (p.Glu208Val)
c.732A>T
n.110A>T
c.358+1240A>T (n.358+1240A>T)
c.812A>T (p.Glu271Val)
12g.55957233T>CCA385217427PMELc.1070A>G (p.Glu357Gly)
c.908A>G (p.Glu303Gly)
c.623A>G (p.Glu208Gly)
c.732A>G
n.110A>G
c.358+1240A>G (n.358+1240A>G)
c.812A>G (p.Glu271Gly)
12g.55957233T>GCA385217428PMELc.1070A>C (p.Glu357Ala)
c.908A>C (p.Glu303Ala)
c.623A>C (p.Glu208Ala)
c.732A>C
n.110A>C
c.358+1240A>C (n.358+1240A>C)
c.812A>C (p.Glu271Ala)
12g.55957234C>ACA385217430PMELc.1069G>T (p.Glu357Ter)
c.907G>T (p.Glu303Ter)
c.622G>T (p.Glu208Ter)
c.731G>T
n.109G>T
c.358+1239G>T (n.358+1239G>T)
c.811G>T (p.Glu271Ter)
12g.55957234C>GCA385217433PMELc.1069G>C (p.Glu357Gln)
c.907G>C (p.Glu303Gln)
c.622G>C (p.Glu208Gln)
c.731G>C
n.109G>C
c.358+1239G>C (n.358+1239G>C)
c.811G>C (p.Glu271Gln)
12g.55957234C>TCA385217431PMELc.1069G>A (p.Glu357Lys)
c.907G>A (p.Glu303Lys)
c.622G>A (p.Glu208Lys)
c.731G>A
n.109G>A
c.358+1239G>A (n.358+1239G>A)
c.811G>A (p.Glu271Lys)
 gnomAD v4
12g.55957235A=CA2038181369PMELc.1068T= (p.Thr356=)
c.906T= (p.Thr302=)
c.621T= (p.Thr207=)
c.730T=
n.108T=
c.358+1238T= (n.358+1238T=)
c.810T= (p.Thr270=)
12g.55957235A>CCA480364797PMELc.1068T>G (p.Thr356=)
c.906T>G (p.Thr302=)
c.621T>G (p.Thr207=)
c.730T>G
n.108T>G
c.358+1238T>G (n.358+1238T>G)
c.810T>G (p.Thr270=)
12g.55957235A>GCA6620077PMELc.1068T>C (p.Thr356=)
c.906T>C (p.Thr302=)
c.621T>C (p.Thr207=)
c.730T>C
n.108T>C
c.358+1238T>C (n.358+1238T>C)
c.810T>C (p.Thr270=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.55957235A>TCA480364798PMELc.1068T>A (p.Thr356=)
c.906T>A (p.Thr302=)
c.621T>A (p.Thr207=)
c.730T>A
n.108T>A
c.358+1238T>A (n.358+1238T>A)
c.810T>A (p.Thr270=)
12g.55957236G>ACA385217438PMELc.1067C>T (p.Thr356Ile)
c.905C>T (p.Thr302Ile)
c.620C>T (p.Thr207Ile)
c.729C>T
n.107C>T
c.358+1237C>T (n.358+1237C>T)
c.809C>T (p.Thr270Ile)
12g.55957236G>CCA385217436PMELc.1067C>G (p.Thr356Ser)
c.905C>G (p.Thr302Ser)
c.620C>G (p.Thr207Ser)
c.729C>G
n.107C>G
c.358+1237C>G (n.358+1237C>G)
c.809C>G (p.Thr270Ser)
12g.55957236G>TCA385217437PMELc.1067C>A (p.Thr356Asn)
c.905C>A (p.Thr302Asn)
c.620C>A (p.Thr207Asn)
c.729C>A
n.107C>A
c.358+1237C>A (n.358+1237C>A)
c.809C>A (p.Thr270Asn)
12g.55957237T>ACA385217440PMELc.1066A>T (p.Thr356Ser)
c.904A>T (p.Thr302Ser)
c.619A>T (p.Thr207Ser)
c.728A>T
n.106A>T
c.358+1236A>T (n.358+1236A>T)
c.808A>T (p.Thr270Ser)
12g.55957237T>CCA385217441PMELc.1066A>G (p.Thr356Ala)
c.904A>G (p.Thr302Ala)
c.619A>G (p.Thr207Ala)
c.728A>G
n.106A>G
c.358+1236A>G (n.358+1236A>G)
c.808A>G (p.Thr270Ala)
12g.55957237T>GCA385217443PMELc.1066A>C (p.Thr356Pro)
c.904A>C (p.Thr302Pro)
c.619A>C (p.Thr207Pro)
c.728A>C
n.106A>C
c.358+1236A>C (n.358+1236A>C)
c.808A>C (p.Thr270Pro)
12g.55957238G>ACA480364803PMELc.1065C>T (p.Thr355=)
c.903C>T (p.Thr301=)
c.618C>T (p.Thr206=)
c.727C>T
n.105C>T
c.358+1235C>T (n.358+1235C>T)
c.807C>T (p.Thr269=)
12g.55957238G>CCA480364804PMELc.1065C>G (p.Thr355=)
c.903C>G (p.Thr301=)
c.618C>G (p.Thr206=)
c.727C>G
n.105C>G
c.358+1235C>G (n.358+1235C>G)
c.807C>G (p.Thr269=)
12g.55957238G>TCA480364805PMELc.1065C>A (p.Thr355=)
c.903C>A (p.Thr301=)
c.618C>A (p.Thr206=)
c.727C>A
n.105C>A
c.358+1235C>A (n.358+1235C>A)
c.807C>A (p.Thr269=)
 gnomAD v4
12g.55957239G>ACA385217448PMELc.1064C>T (p.Thr355Ile)
c.902C>T (p.Thr301Ile)
c.617C>T (p.Thr206Ile)
c.726C>T
n.104C>T
c.358+1234C>T (n.358+1234C>T)
c.806C>T (p.Thr269Ile)
12g.55957239G>CCA385217446PMELc.1064C>G (p.Thr355Ser)
c.902C>G (p.Thr301Ser)
c.617C>G (p.Thr206Ser)
c.726C>G
n.104C>G
c.358+1234C>G (n.358+1234C>G)
c.806C>G (p.Thr269Ser)
12g.55957239G>TCA385217444PMELc.1064C>A (p.Thr355Asn)
c.902C>A (p.Thr301Asn)
c.617C>A (p.Thr206Asn)
c.726C>A
n.104C>A
c.358+1234C>A (n.358+1234C>A)
c.806C>A (p.Thr269Asn)
 gnomAD v4
12g.55957240T>ACA385217449PMELc.1063A>T (p.Thr355Ser)
c.901A>T (p.Thr301Ser)
c.616A>T (p.Thr206Ser)
c.725A>T
n.103A>T
c.358+1233A>T (n.358+1233A>T)
c.805A>T (p.Thr269Ser)
12g.55957240T>CCA6620078PMELc.1063A>G (p.Thr355Ala)
c.901A>G (p.Thr301Ala)
c.616A>G (p.Thr206Ala)
c.725A>G
n.103A>G
c.358+1233A>G (n.358+1233A>G)
c.805A>G (p.Thr269Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55957240T>GCA385217450PMELc.1063A>C (p.Thr355Pro)
c.901A>C (p.Thr301Pro)
c.616A>C (p.Thr206Pro)
c.725A>C
n.103A>C
c.358+1233A>C (n.358+1233A>C)
c.805A>C (p.Thr269Pro)
12g.55957240T=CA2038181375PMELc.1063A= (p.Thr355=)
c.901A= (p.Thr301=)
c.616A= (p.Thr206=)
c.725A=
n.103A=
c.358+1233A= (n.358+1233A=)
c.805A= (p.Thr269=)
12g.55957241T>ACA480364809PMELc.1062A>T (p.Pro354=)
c.900A>T (p.Pro300=)
c.615A>T (p.Pro205=)
c.724A>T
n.102A>T
c.358+1232A>T (n.358+1232A>T)
c.804A>T (p.Pro268=)
12g.55957241T>CCA480364810PMELc.1062A>G (p.Pro354=)
c.900A>G (p.Pro300=)
c.615A>G (p.Pro205=)
c.724A>G
n.102A>G
c.358+1232A>G (n.358+1232A>G)
c.804A>G (p.Pro268=)
12g.55957241T>GCA480364811PMELc.1062A>C (p.Pro354=)
c.900A>C (p.Pro300=)
c.615A>C (p.Pro205=)
c.724A>C
n.102A>C
c.358+1232A>C (n.358+1232A>C)
c.804A>C (p.Pro268=)
12g.55957242G>ACA385217451PMELc.1061C>T (p.Pro354Leu)
c.899C>T (p.Pro300Leu)
c.614C>T (p.Pro205Leu)
c.723C>T
n.101C>T
c.358+1231C>T (n.358+1231C>T)
c.803C>T (p.Pro268Leu)
 dbSNP gnomAD v2 gnomAD v4
12g.55957242G>CCA385217453PMELc.1061C>G (p.Pro354Arg)
c.899C>G (p.Pro300Arg)
c.614C>G (p.Pro205Arg)
c.723C>G
n.101C>G
c.358+1231C>G (n.358+1231C>G)
c.803C>G (p.Pro268Arg)
12g.55957242G=CA2038181380PMELc.1061C= (p.Pro354=)
c.899C= (p.Pro300=)
c.614C= (p.Pro205=)
c.723C=
n.101C=
c.358+1231C= (n.358+1231C=)
c.803C= (p.Pro268=)
12g.55957242G>TCA385217454PMELc.1061C>A (p.Pro354Gln)
c.899C>A (p.Pro300Gln)
c.614C>A (p.Pro205Gln)
c.723C>A
n.101C>A
c.358+1231C>A (n.358+1231C>A)
c.803C>A (p.Pro268Gln)
12g.55957243G>ACA385217456PMELc.1060C>T (p.Pro354Ser)
c.898C>T (p.Pro300Ser)
c.613C>T (p.Pro205Ser)
c.722C>T
n.100C>T
c.358+1230C>T (n.358+1230C>T)
c.802C>T (p.Pro268Ser)
 gnomAD v4
12g.55957243G>CCA385217459PMELc.1060C>G (p.Pro354Ala)
c.898C>G (p.Pro300Ala)
c.613C>G (p.Pro205Ala)
c.722C>G
n.100C>G
c.358+1230C>G (n.358+1230C>G)
c.802C>G (p.Pro268Ala)
12g.55957243G>TCA385217458PMELc.1060C>A (p.Pro354Thr)
c.898C>A (p.Pro300Thr)
c.613C>A (p.Pro205Thr)
c.722C>A
n.100C>A
c.358+1230C>A (n.358+1230C>A)
c.802C>A (p.Pro268Thr)
12g.55957244C>ACA480364812PMELc.1059G>T (p.Val353=)
c.897G>T (p.Val299=)
c.612G>T (p.Val204=)
c.721G>T
n.99G>T
c.358+1229G>T (n.358+1229G>T)
c.801G>T (p.Val267=)
 COSMIC
12g.55957244C>GCA480364814PMELc.1059G>C (p.Val353=)
c.897G>C (p.Val299=)
c.612G>C (p.Val204=)
c.721G>C
n.99G>C
c.358+1229G>C (n.358+1229G>C)
c.801G>C (p.Val267=)
12g.55957244C>TCA480364817PMELc.1059G>A (p.Val353=)
c.897G>A (p.Val299=)
c.612G>A (p.Val204=)
c.721G>A
n.99G>A
c.358+1229G>A (n.358+1229G>A)
c.801G>A (p.Val267=)
 gnomAD v4
12g.55957245A>CCA385217461PMELc.1058T>G (p.Val353Gly)
c.896T>G (p.Val299Gly)
c.611T>G (p.Val204Gly)
c.720T>G
n.98T>G
c.358+1228T>G (n.358+1228T>G)
c.800T>G (p.Val267Gly)
12g.55957245A>GCA385217466PMELc.1058T>C (p.Val353Ala)
c.896T>C (p.Val299Ala)
c.611T>C (p.Val204Ala)
c.720T>C
n.98T>C
c.358+1228T>C (n.358+1228T>C)
c.800T>C (p.Val267Ala)
 gnomAD v4
12g.55957245A>TCA385217467PMELc.1058T>A (p.Val353Glu)
c.896T>A (p.Val299Glu)
c.611T>A (p.Val204Glu)
c.720T>A
n.98T>A
c.358+1228T>A (n.358+1228T>A)
c.800T>A (p.Val267Glu)
12g.55957246C>ACA385217469PMELc.1057G>T (p.Val353Leu)
c.895G>T (p.Val299Leu)
c.610G>T (p.Val204Leu)
c.719G>T
n.97G>T
c.358+1227G>T (n.358+1227G>T)
c.799G>T (p.Val267Leu)
12g.55957246C=CA2038181383PMELc.1057G= (p.Val353=)
c.895G= (p.Val299=)
c.610G= (p.Val204=)
c.719G=
n.97G=
c.358+1227G= (n.358+1227G=)
c.799G= (p.Val267=)
12g.55957246C>GCA385217470PMELc.1057G>C (p.Val353Leu)
c.895G>C (p.Val299Leu)
c.610G>C (p.Val204Leu)
c.719G>C
n.97G>C
c.358+1227G>C (n.358+1227G>C)
c.799G>C (p.Val267Leu)
12g.55957246C>TCA237590982PMELc.1057G>A (p.Val353Met)
c.895G>A (p.Val299Met)
c.610G>A (p.Val204Met)
c.719G>A
n.97G>A
c.358+1227G>A (n.358+1227G>A)
c.799G>A (p.Val267Met)
 dbSNP gnomAD v2 gnomAD v4
12g.55957247C>ACA385217473PMELc.1056G>T (p.Gln352His)
c.894G>T (p.Gln298His)
c.609G>T (p.Gln203His)
c.718G>T
n.96G>T
c.358+1226G>T (n.358+1226G>T)
c.798G>T (p.Gln266His)
12g.55957247C>GCA385217474PMELc.1056G>C (p.Gln352His)
c.894G>C (p.Gln298His)
c.609G>C (p.Gln203His)
c.718G>C
n.96G>C
c.358+1226G>C (n.358+1226G>C)
c.798G>C (p.Gln266His)
12g.55957247C>TCA480364824PMELc.1056G>A (p.Gln352=)
c.894G>A (p.Gln298=)
c.609G>A (p.Gln203=)
c.718G>A
n.96G>A
c.358+1226G>A (n.358+1226G>A)
c.798G>A (p.Gln266=)
12g.55957248T>ACA385217476PMELc.1055A>T (p.Gln352Leu)
c.893A>T (p.Gln298Leu)
c.608A>T (p.Gln203Leu)
c.717A>T
n.95A>T
c.358+1225A>T (n.358+1225A>T)
c.797A>T (p.Gln266Leu)
12g.55957248T>CCA385217478PMELc.1055A>G (p.Gln352Arg)
c.893A>G (p.Gln298Arg)
c.608A>G (p.Gln203Arg)
c.717A>G
n.95A>G
c.358+1225A>G (n.358+1225A>G)
c.797A>G (p.Gln266Arg)
12g.55957248T>GCA385217480PMELc.1055A>C (p.Gln352Pro)
c.893A>C (p.Gln298Pro)
c.608A>C (p.Gln203Pro)
c.717A>C
n.95A>C
c.358+1225A>C (n.358+1225A>C)
c.797A>C (p.Gln266Pro)
12g.55957249G>ACA6620079PMELc.1054C>T (p.Gln352Ter)
c.892C>T (p.Gln298Ter)
c.607C>T (p.Gln203Ter)
c.716C>T
n.94C>T
c.358+1224C>T (n.358+1224C>T)
c.796C>T (p.Gln266Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55957249G>CCA385217484PMELc.1054C>G (p.Gln352Glu)
c.892C>G (p.Gln298Glu)
c.607C>G (p.Gln203Glu)
c.716C>G
n.94C>G
c.358+1224C>G (n.358+1224C>G)
c.796C>G (p.Gln266Glu)
12g.55957249G=CA2038181387PMELc.1054C= (p.Gln352=)
c.892C= (p.Gln298=)
c.607C= (p.Gln203=)
c.716C=
n.94C=
c.358+1224C= (n.358+1224C=)
c.796C= (p.Gln266=)
12g.55957249G>TCA385217482PMELc.1054C>A (p.Gln352Lys)
c.892C>A (p.Gln298Lys)
c.607C>A (p.Gln203Lys)
c.716C>A
n.94C>A
c.358+1224C>A (n.358+1224C>A)
c.796C>A (p.Gln266Lys)
12g.55957250C>ACA480364827PMELc.1053G>T (p.Val351=)
c.891G>T (p.Val297=)
c.606G>T (p.Val202=)
c.715G>T
n.93G>T
c.358+1223G>T (n.358+1223G>T)
c.795G>T (p.Val265=)
12g.55957250C>GCA480364828PMELc.1053G>C (p.Val351=)
c.891G>C (p.Val297=)
c.606G>C (p.Val202=)
c.715G>C
n.93G>C
c.358+1223G>C (n.358+1223G>C)
c.795G>C (p.Val265=)
12g.55957250C>TCA480364829PMELc.1053G>A (p.Val351=)
c.891G>A (p.Val297=)
c.606G>A (p.Val202=)
c.715G>A
n.93G>A
c.358+1223G>A (n.358+1223G>A)
c.795G>A (p.Val265=)
12g.55957251A>CCA385217485PMELc.1052T>G (p.Val351Gly)
c.890T>G (p.Val297Gly)
c.605T>G (p.Val202Gly)
c.714T>G
n.92T>G
c.358+1222T>G (n.358+1222T>G)
c.794T>G (p.Val265Gly)
12g.55957251A>GCA385217486PMELc.1052T>C (p.Val351Ala)
c.890T>C (p.Val297Ala)
c.605T>C (p.Val202Ala)
c.714T>C
n.92T>C
c.358+1222T>C (n.358+1222T>C)
c.794T>C (p.Val265Ala)
12g.55957251A>TCA385217487PMELc.1052T>A (p.Val351Glu)
c.890T>A (p.Val297Glu)
c.605T>A (p.Val202Glu)
c.714T>A
n.92T>A
c.358+1222T>A (n.358+1222T>A)
c.794T>A (p.Val265Glu)
12g.55957252C>ACA385217488PMELc.1051G>T (p.Val351Leu)
c.889G>T (p.Val297Leu)
c.604G>T (p.Val202Leu)
c.713G>T
n.91G>T
c.358+1221G>T (n.358+1221G>T)
c.793G>T (p.Val265Leu)
12g.55957252C>GCA385217490PMELc.1051G>C (p.Val351Leu)
c.889G>C (p.Val297Leu)
c.604G>C (p.Val202Leu)
c.713G>C
n.91G>C
c.358+1221G>C (n.358+1221G>C)
c.793G>C (p.Val265Leu)
12g.55957252C>TCA385217492PMELc.1051G>A (p.Val351Met)
c.889G>A (p.Val297Met)
c.604G>A (p.Val202Met)
c.713G>A
n.91G>A
c.358+1221G>A (n.358+1221G>A)
c.793G>A (p.Val265Met)
12g.55957253A=CA2038181393PMELc.1050T= (p.Ser350=)
c.888T= (p.Ser296=)
c.603T= (p.Ser201=)
c.712T=
n.90T=
c.358+1220T= (n.358+1220T=)
c.792T= (p.Ser264=)
12g.55957253A>CCA480364830PMELc.1050T>G (p.Ser350=)
c.888T>G (p.Ser296=)
c.603T>G (p.Ser201=)
c.712T>G
n.90T>G
c.358+1220T>G (n.358+1220T>G)
c.792T>G (p.Ser264=)
12g.55957253A>GCA6620080PMELc.1050T>C (p.Ser350=)
c.888T>C (p.Ser296=)
c.603T>C (p.Ser201=)
c.712T>C
n.90T>C
c.358+1220T>C (n.358+1220T>C)
c.792T>C (p.Ser264=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55957253A>TCA480364831PMELc.1050T>A (p.Ser350=)
c.888T>A (p.Ser296=)
c.603T>A (p.Ser201=)
c.712T>A
n.90T>A
c.358+1220T>A (n.358+1220T>A)
c.792T>A (p.Ser264=)
12g.55957254G>ACA6620081PMELc.1049C>T (p.Ser350Phe)
c.887C>T (p.Ser296Phe)
c.602C>T (p.Ser201Phe)
c.711C>T
n.89C>T
c.358+1219C>T (n.358+1219C>T)
c.791C>T (p.Ser264Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55957254G>CCA385217495PMELc.1049C>G (p.Ser350Cys)
c.887C>G (p.Ser296Cys)
c.602C>G (p.Ser201Cys)
c.711C>G
n.89C>G
c.358+1219C>G (n.358+1219C>G)
c.791C>G (p.Ser264Cys)
12g.55957254G=CA2038181398PMELc.1049C= (p.Ser350=)
c.887C= (p.Ser296=)
c.602C= (p.Ser201=)
c.711C=
n.89C=
c.358+1219C= (n.358+1219C=)
c.791C= (p.Ser264=)
12g.55957254G>TCA385217497PMELc.1049C>A (p.Ser350Tyr)
c.887C>A (p.Ser296Tyr)
c.602C>A (p.Ser201Tyr)
c.711C>A
n.89C>A
c.358+1219C>A (n.358+1219C>A)
c.791C>A (p.Ser264Tyr)
 dbSNP gnomAD v4
12g.55957255A>CCA385217502PMELc.1048T>G (p.Ser350Ala)
c.886T>G (p.Ser296Ala)
c.601T>G (p.Ser201Ala)
c.710T>G
n.88T>G
c.358+1218T>G (n.358+1218T>G)
c.790T>G (p.Ser264Ala)
12g.55957255A>GCA385217500PMELc.1048T>C (p.Ser350Pro)
c.886T>C (p.Ser296Pro)
c.601T>C (p.Ser201Pro)
c.710T>C
n.88T>C
c.358+1218T>C (n.358+1218T>C)
c.790T>C (p.Ser264Pro)
12g.55957255A>TCA385217498PMELc.1048T>A (p.Ser350Thr)
c.886T>A (p.Ser296Thr)
c.601T>A (p.Ser201Thr)
c.710T>A
n.88T>A
c.358+1218T>A (n.358+1218T>A)
c.790T>A (p.Ser264Thr)
12g.55957256T>ACA480364837PMELc.1047A>T (p.Thr349=)
c.885A>T (p.Thr295=)
c.600A>T (p.Thr200=)
c.709A>T
n.87A>T
c.358+1217A>T (n.358+1217A>T)
c.789A>T (p.Thr263=)
12g.55957256T>CCA480364838PMELc.1047A>G (p.Thr349=)
c.885A>G (p.Thr295=)
c.600A>G (p.Thr200=)
c.709A>G
n.87A>G
c.358+1217A>G (n.358+1217A>G)
c.789A>G (p.Thr263=)
12g.55957256T>GCA480364839PMELc.1047A>C (p.Thr349=)
c.885A>C (p.Thr295=)
c.600A>C (p.Thr200=)
c.709A>C
n.87A>C
c.358+1217A>C (n.358+1217A>C)
c.789A>C (p.Thr263=)
12g.55957257G>ACA6620082PMELc.1046C>T (p.Thr349Ile)
c.884C>T (p.Thr295Ile)
c.599C>T (p.Thr200Ile)
c.708C>T
n.86C>T
c.358+1216C>T (n.358+1216C>T)
c.788C>T (p.Thr263Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55957257G>CCA385217506PMELc.1046C>G (p.Thr349Arg)
c.884C>G (p.Thr295Arg)
c.599C>G (p.Thr200Arg)
c.708C>G
n.86C>G
c.358+1216C>G (n.358+1216C>G)
c.788C>G (p.Thr263Arg)
12g.55957257G=CA2038181401PMELc.1046C= (p.Thr349=)
c.884C= (p.Thr295=)
c.599C= (p.Thr200=)
c.708C=
n.86C=
c.358+1216C= (n.358+1216C=)
c.788C= (p.Thr263=)
12g.55957257G>TCA385217508PMELc.1046C>A (p.Thr349Lys)
c.884C>A (p.Thr295Lys)
c.599C>A (p.Thr200Lys)
c.708C>A
n.86C>A
c.358+1216C>A (n.358+1216C>A)
c.788C>A (p.Thr263Lys)
 gnomAD v4
12g.55957258T>ACA385217509PMELc.1045A>T (p.Thr349Ser)
c.883A>T (p.Thr295Ser)
c.598A>T (p.Thr200Ser)
c.707A>T
n.85A>T
c.358+1215A>T (n.358+1215A>T)
c.787A>T (p.Thr263Ser)
12g.55957258T>CCA385217511PMELc.1045A>G (p.Thr349Ala)
c.883A>G (p.Thr295Ala)
c.598A>G (p.Thr200Ala)
c.707A>G
n.85A>G
c.358+1215A>G (n.358+1215A>G)
c.787A>G (p.Thr263Ala)
12g.55957258T>GCA385217512PMELc.1045A>C (p.Thr349Pro)
c.883A>C (p.Thr295Pro)
c.598A>C (p.Thr200Pro)
c.707A>C
n.85A>C
c.358+1215A>C (n.358+1215A>C)
c.787A>C (p.Thr263Pro)
12g.55957259G>ACA480364843PMELc.1044C>T (p.Thr348=)
c.897C>T (p.Thr299=)
c.882C>T (p.Thr294=)
c.597C>T (p.Thr199=)
c.706C>T
n.84C>T
c.358+1214C>T (n.358+1214C>T)
c.786C>T (p.Thr262=)
 dbSNP gnomAD v4
12g.55957259G>CCA480364844PMELc.1044C>G (p.Thr348=)
c.897C>G (p.Thr299=)
c.882C>G (p.Thr294=)
c.597C>G (p.Thr199=)
c.706C>G
n.84C>G
c.358+1214C>G (n.358+1214C>G)
c.786C>G (p.Thr262=)
12g.55957259G=CA2038181405PMELc.1044C= (p.Thr348=)
c.897C= (p.Thr299=)
c.882C= (p.Thr294=)
c.597C= (p.Thr199=)
c.706C=
n.84C=
c.358+1214C= (n.358+1214C=)
c.786C= (p.Thr262=)
12g.55957259G>TCA480364845PMELc.1044C>A (p.Thr348=)
c.897C>A (p.Thr299=)
c.882C>A (p.Thr294=)
c.597C>A (p.Thr199=)
c.706C>A
n.84C>A
c.358+1214C>A (n.358+1214C>A)
c.786C>A (p.Thr262=)
12g.55957260G>ACA385217514PMELc.1043C>T (p.Thr348Ile)
c.896C>T (p.Thr299Ile)
c.881C>T (p.Thr294Ile)
c.596C>T (p.Thr199Ile)
c.705C>T
n.83C>T
c.358+1213C>T (n.358+1213C>T)
c.785C>T (p.Thr262Ile)
 dbSNP
12g.55957260G>CCA385217515PMELc.1043C>G (p.Thr348Ser)
c.896C>G (p.Thr299Ser)
c.881C>G (p.Thr294Ser)
c.596C>G (p.Thr199Ser)
c.705C>G
n.83C>G
c.358+1213C>G (n.358+1213C>G)
c.785C>G (p.Thr262Ser)
12g.55957260G=CA2038181408PMELc.1043C= (p.Thr348=)
c.896C= (p.Thr299=)
c.881C= (p.Thr294=)
c.596C= (p.Thr199=)
c.705C=
n.83C=
c.358+1213C= (n.358+1213C=)
c.785C= (p.Thr262=)
12g.55957260G>TCA385217516PMELc.1043C>A (p.Thr348Asn)
c.896C>A (p.Thr299Asn)
c.881C>A (p.Thr294Asn)
c.596C>A (p.Thr199Asn)
c.705C>A
n.83C>A
c.358+1213C>A (n.358+1213C>A)
c.785C>A (p.Thr262Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55957261T>ACA385217517PMELc.1042A>T (p.Thr348Ser)
c.895A>T (p.Thr299Ser)
c.880A>T (p.Thr294Ser)
c.595A>T (p.Thr199Ser)
c.704A>T
n.82A>T
c.358+1212A>T (n.358+1212A>T)
c.784A>T (p.Thr262Ser)
12g.55957261T>CCA385217518PMELc.1042A>G (p.Thr348Ala)
c.895A>G (p.Thr299Ala)
c.880A>G (p.Thr294Ala)
c.595A>G (p.Thr199Ala)
c.704A>G
n.82A>G
c.358+1212A>G (n.358+1212A>G)
c.784A>G (p.Thr262Ala)
12g.55957261T>GCA385217519PMELc.1042A>C (p.Thr348Pro)
c.895A>C (p.Thr299Pro)
c.880A>C (p.Thr294Pro)
c.595A>C (p.Thr199Pro)
c.704A>C
n.82A>C
c.358+1212A>C (n.358+1212A>C)
c.784A>C (p.Thr262Pro)
12g.55957262T>ACA480364850PMELc.1041A>T (p.Gly347=)
c.894A>T (p.Gly298=)
c.879A>T (p.Gly293=)
c.594A>T (p.Gly198=)
c.703A>T
n.81A>T
c.358+1211A>T (n.358+1211A>T)
c.783A>T (p.Gly261=)
12g.55957262T>CCA480364851PMELc.1041A>G (p.Gly347=)
c.894A>G (p.Gly298=)
c.879A>G (p.Gly293=)
c.594A>G (p.Gly198=)
c.703A>G
n.81A>G
c.358+1211A>G (n.358+1211A>G)
c.783A>G (p.Gly261=)
12g.55957262T>GCA480364852PMELc.1041A>C (p.Gly347=)
c.894A>C (p.Gly298=)
c.879A>C (p.Gly293=)
c.594A>C (p.Gly198=)
c.703A>C
n.81A>C
c.358+1211A>C (n.358+1211A>C)
c.783A>C (p.Gly261=)
12g.55957263C>ACA6620083PMELc.1040G>T (p.Gly347Val)
c.893G>T (p.Gly298Val)
c.878G>T (p.Gly293Val)
c.593G>T (p.Gly198Val)
c.702G>T
n.80G>T
c.358+1210G>T (n.358+1210G>T)
c.782G>T (p.Gly261Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55957263C=CA2038181414PMELc.1040G= (p.Gly347=)
c.893G= (p.Gly298=)
c.878G= (p.Gly293=)
c.593G= (p.Gly198=)
c.702G=
n.80G=
c.358+1210G= (n.358+1210G=)
c.782G= (p.Gly261=)
12g.55957263C>GCA385217524PMELc.1040G>C (p.Gly347Ala)
c.893G>C (p.Gly298Ala)
c.878G>C (p.Gly293Ala)
c.593G>C (p.Gly198Ala)
c.702G>C
n.80G>C
c.358+1210G>C (n.358+1210G>C)
c.782G>C (p.Gly261Ala)
12g.55957263C>TCA385217522PMELc.1040G>A (p.Gly347Glu)
c.893G>A (p.Gly298Glu)
c.878G>A (p.Gly293Glu)
c.593G>A (p.Gly198Glu)
c.702G>A
n.80G>A
c.358+1210G>A (n.358+1210G>A)
c.782G>A (p.Gly261Glu)
12g.55957264C>ACA385217529PMELc.1039G>T (p.Gly347Ter)
c.892G>T (p.Gly298Ter)
c.877G>T (p.Gly293Ter)
c.592G>T (p.Gly198Ter)
c.701G>T
n.79G>T
c.358+1209G>T (n.358+1209G>T)
c.781G>T (p.Gly261Ter)
12g.55957264C>GCA385217526PMELc.1039G>C (p.Gly347Arg)
c.892G>C (p.Gly298Arg)
c.877G>C (p.Gly293Arg)
c.592G>C (p.Gly198Arg)
c.701G>C
n.79G>C
c.358+1209G>C (n.358+1209G>C)
c.781G>C (p.Gly261Arg)
12g.55957264C>TCA385217527PMELc.1039G>A (p.Gly347Arg)
c.892G>A (p.Gly298Arg)
c.877G>A (p.Gly293Arg)
c.592G>A (p.Gly198Arg)
c.701G>A
n.79G>A
c.358+1209G>A (n.358+1209G>A)
c.781G>A (p.Gly261Arg)
 gnomAD v4
12g.55957265A>CCA480364855PMELc.1038T>G (p.Ser346=)
c.891T>G (p.Ser297=)
c.876T>G (p.Ser292=)
c.591T>G (p.Ser197=)
c.700T>G
n.78T>G
c.358+1208T>G (n.358+1208T>G)
c.780T>G (p.Ser260=)
12g.55957265A>GCA480364859PMELc.1038T>C (p.Ser346=)
c.891T>C (p.Ser297=)
c.876T>C (p.Ser292=)
c.591T>C (p.Ser197=)
c.700T>C
n.78T>C
c.358+1208T>C (n.358+1208T>C)
c.780T>C (p.Ser260=)
12g.55957265A>TCA480364857PMELc.1038T>A (p.Ser346=)
c.891T>A (p.Ser297=)
c.876T>A (p.Ser292=)
c.591T>A (p.Ser197=)
c.700T>A
n.78T>A
c.358+1208T>A (n.358+1208T>A)
c.780T>A (p.Ser260=)
12g.55957266G>ACA385217531PMELc.1037C>T (p.Ser346Phe)
c.890C>T (p.Ser297Phe)
c.875C>T (p.Ser292Phe)
c.590C>T (p.Ser197Phe)
c.699C>T
n.77C>T
c.358+1207C>T (n.358+1207C>T)
c.779C>T (p.Ser260Phe)
12g.55957266G>CCA385217532PMELc.1037C>G (p.Ser346Cys)
c.890C>G (p.Ser297Cys)
c.875C>G (p.Ser292Cys)
c.590C>G (p.Ser197Cys)
c.699C>G
n.77C>G
c.358+1207C>G (n.358+1207C>G)
c.779C>G (p.Ser260Cys)
12g.55957266G>TCA385217533PMELc.1037C>A (p.Ser346Tyr)
c.890C>A (p.Ser297Tyr)
c.875C>A (p.Ser292Tyr)
c.590C>A (p.Ser197Tyr)
c.699C>A
n.77C>A
c.358+1207C>A (n.358+1207C>A)
c.779C>A (p.Ser260Tyr)
12g.55957267A>CCA385217534PMELc.1036T>G (p.Ser346Ala)
c.889T>G (p.Ser297Ala)
c.874T>G (p.Ser292Ala)
c.589T>G (p.Ser197Ala)
c.698T>G
n.76T>G
c.358+1206T>G (n.358+1206T>G)
c.778T>G (p.Ser260Ala)
12g.55957267A>GCA385217535PMELc.1036T>C (p.Ser346Pro)
c.889T>C (p.Ser297Pro)
c.874T>C (p.Ser292Pro)
c.589T>C (p.Ser197Pro)
c.698T>C
n.76T>C
c.358+1206T>C (n.358+1206T>C)
c.778T>C (p.Ser260Pro)
12g.55957267A>TCA385217536PMELc.1036T>A (p.Ser346Thr)
c.889T>A (p.Ser297Thr)
c.874T>A (p.Ser292Thr)
c.589T>A (p.Ser197Thr)
c.698T>A
n.76T>A
c.358+1206T>A (n.358+1206T>A)
c.778T>A (p.Ser260Thr)
12g.55957268G>ACA480364862PMELc.1035C>T (p.Pro345=)
c.888C>T (p.Pro296=)
c.873C>T (p.Pro291=)
c.588C>T (p.Pro196=)
c.697C>T
n.75C>T
c.358+1205C>T (n.358+1205C>T)
c.777C>T (p.Pro259=)
12g.55957268G>CCA480364864PMELc.1035C>G (p.Pro345=)
c.888C>G (p.Pro296=)
c.873C>G (p.Pro291=)
c.588C>G (p.Pro196=)
c.697C>G
n.75C>G
c.358+1205C>G (n.358+1205C>G)
c.777C>G (p.Pro259=)
12g.55957268G>TCA480364866PMELc.1035C>A (p.Pro345=)
c.888C>A (p.Pro296=)
c.873C>A (p.Pro291=)
c.588C>A (p.Pro196=)
c.697C>A
n.75C>A
c.358+1205C>A (n.358+1205C>A)
c.777C>A (p.Pro259=)
12g.55957269G>ACA385217537PMELc.1034C>T (p.Pro345Leu)
c.887C>T (p.Pro296Leu)
c.872C>T (p.Pro291Leu)
c.587C>T (p.Pro196Leu)
c.696C>T
n.74C>T
c.358+1204C>T (n.358+1204C>T)
c.776C>T (p.Pro259Leu)
12g.55957269G>CCA385217538PMELc.1034C>G (p.Pro345Arg)
c.887C>G (p.Pro296Arg)
c.872C>G (p.Pro291Arg)
c.587C>G (p.Pro196Arg)
c.696C>G
n.74C>G
c.358+1204C>G (n.358+1204C>G)
c.776C>G (p.Pro259Arg)
12g.55957269G>TCA385217539PMELc.1034C>A (p.Pro345His)
c.887C>A (p.Pro296His)
c.872C>A (p.Pro291His)
c.587C>A (p.Pro196His)
c.696C>A
n.74C>A
c.358+1204C>A (n.358+1204C>A)
c.776C>A (p.Pro259His)
 dbSNP
12g.55957270G>ACA385217542PMELc.1033C>T (p.Pro345Ser)
c.886C>T (p.Pro296Ser)
c.871C>T (p.Pro291Ser)
c.586C>T (p.Pro196Ser)
c.695C>T
n.73C>T
c.358+1203C>T (n.358+1203C>T)
c.775C>T (p.Pro259Ser)
12g.55957270G>CCA385217541PMELc.1033C>G (p.Pro345Ala)
c.886C>G (p.Pro296Ala)
c.871C>G (p.Pro291Ala)
c.586C>G (p.Pro196Ala)
c.695C>G
n.73C>G
c.358+1203C>G (n.358+1203C>G)
c.775C>G (p.Pro259Ala)
12g.55957270G>TCA385217540PMELc.1033C>A (p.Pro345Thr)
c.886C>A (p.Pro296Thr)
c.871C>A (p.Pro291Thr)
c.586C>A (p.Pro196Thr)
c.695C>A
n.73C>A
c.358+1203C>A (n.358+1203C>A)
c.775C>A (p.Pro259Thr)
12g.55957271C>ACA385217543PMELc.1032G>T (p.Glu344Asp)
c.885G>T (p.Glu295Asp)
c.870G>T (p.Glu290Asp)
c.585G>T (p.Glu195Asp)
c.694G>T
n.72G>T
c.358+1202G>T (n.358+1202G>T)
c.774G>T (p.Glu258Asp)
12g.55957271C>GCA385217545PMELc.1032G>C (p.Glu344Asp)
c.885G>C (p.Glu295Asp)
c.870G>C (p.Glu290Asp)
c.585G>C (p.Glu195Asp)
c.694G>C
n.72G>C
c.358+1202G>C (n.358+1202G>C)
c.774G>C (p.Glu258Asp)
12g.55957271C>TCA480364873PMELc.1032G>A (p.Glu344=)
c.885G>A (p.Glu295=)
c.870G>A (p.Glu290=)
c.585G>A (p.Glu195=)
c.694G>A
n.72G>A
c.358+1202G>A (n.358+1202G>A)
c.774G>A (p.Glu258=)
12g.55957272T>ACA385217547PMELc.1031A>T (p.Glu344Val)
c.884A>T (p.Glu295Val)
c.869A>T (p.Glu290Val)
c.584A>T (p.Glu195Val)
c.693A>T
n.71A>T
c.358+1201A>T (n.358+1201A>T)
c.773A>T (p.Glu258Val)
12g.55957272T>CCA385217548PMELc.1031A>G (p.Glu344Gly)
c.884A>G (p.Glu295Gly)
c.869A>G (p.Glu290Gly)
c.584A>G (p.Glu195Gly)
c.693A>G
n.71A>G
c.358+1201A>G (n.358+1201A>G)
c.773A>G (p.Glu258Gly)
12g.55957272T>GCA385217549PMELc.1031A>C (p.Glu344Ala)
c.884A>C (p.Glu295Ala)
c.869A>C (p.Glu290Ala)
c.584A>C (p.Glu195Ala)
c.693A>C
n.71A>C
c.358+1201A>C (n.358+1201A>C)
c.773A>C (p.Glu258Ala)
12g.55957273C>ACA385217550PMELc.1030G>T (p.Glu344Ter)
c.883G>T (p.Glu295Ter)
c.868G>T (p.Glu290Ter)
c.583G>T (p.Glu195Ter)
c.692G>T
n.70G>T
c.358+1200G>T (n.358+1200G>T)
c.772G>T (p.Glu258Ter)
12g.55957273C>GCA385217551PMELc.1030G>C (p.Glu344Gln)
c.883G>C (p.Glu295Gln)
c.868G>C (p.Glu290Gln)
c.583G>C (p.Glu195Gln)
c.692G>C
n.70G>C
c.358+1200G>C (n.358+1200G>C)
c.772G>C (p.Glu258Gln)
12g.55957273C>TCA385217553PMELc.1030G>A (p.Glu344Lys)
c.883G>A (p.Glu295Lys)
c.868G>A (p.Glu290Lys)
c.583G>A (p.Glu195Lys)
c.692G>A
n.70G>A
c.358+1200G>A (n.358+1200G>A)
c.772G>A (p.Glu258Lys)
12g.55957274T>ACA480364876PMELc.1029A>T (p.Ala343=)
c.882A>T (p.Ala294=)
c.867A>T (p.Ala289=)
c.582A>T (p.Ala194=)
c.691A>T
n.69A>T
c.358+1199A>T (n.358+1199A>T)
c.771A>T (p.Ala257=)
12g.55957274T>CCA6620084PMELc.1029A>G (p.Ala343=)
c.882A>G (p.Ala294=)
c.867A>G (p.Ala289=)
c.582A>G (p.Ala194=)
c.691A>G
n.69A>G
c.358+1199A>G (n.358+1199A>G)
c.771A>G (p.Ala257=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55957274T>GCA480364875PMELc.1029A>C (p.Ala343=)
c.882A>C (p.Ala294=)
c.867A>C (p.Ala289=)
c.582A>C (p.Ala194=)
c.691A>C
n.69A>C
c.358+1199A>C (n.358+1199A>C)
c.771A>C (p.Ala257=)
12g.55957274T=CA2038181420PMELc.1029A= (p.Ala343=)
c.882A= (p.Ala294=)
c.867A= (p.Ala289=)
c.582A= (p.Ala194=)
c.691A=
n.69A=
c.358+1199A= (n.358+1199A=)
c.771A= (p.Ala257=)
12g.55957275G>ACA385217556PMELc.1028C>T (p.Ala343Val)
c.881C>T (p.Ala294Val)
c.866C>T (p.Ala289Val)
c.581C>T (p.Ala194Val)
c.690C>T
n.68C>T
c.358+1198C>T (n.358+1198C>T)
c.770C>T (p.Ala257Val)
 gnomAD v4
12g.55957275G>CCA385217558PMELc.1028C>G (p.Ala343Gly)
c.881C>G (p.Ala294Gly)
c.866C>G (p.Ala289Gly)
c.581C>G (p.Ala194Gly)
c.690C>G
n.68C>G
c.358+1198C>G (n.358+1198C>G)
c.770C>G (p.Ala257Gly)
12g.55957275G=CA2038181426PMELc.1028C= (p.Ala343=)
c.881C= (p.Ala294=)
c.866C= (p.Ala289=)
c.581C= (p.Ala194=)
c.690C=
n.68C=
c.358+1198C= (n.358+1198C=)
c.770C= (p.Ala257=)
12g.55957275G>TCA385217560PMELc.1028C>A (p.Ala343Glu)
c.881C>A (p.Ala294Glu)
c.866C>A (p.Ala289Glu)
c.581C>A (p.Ala194Glu)
c.690C>A
n.68C>A
c.358+1198C>A (n.358+1198C>A)
c.770C>A (p.Ala257Glu)
 dbSNP gnomAD v2 gnomAD v4
12g.55957276C>ACA385217562PMELc.1027G>T (p.Ala343Ser)
c.880G>T (p.Ala294Ser)
c.865G>T (p.Ala289Ser)
c.580G>T (p.Ala194Ser)
c.689G>T
n.67G>T
c.358+1197G>T (n.358+1197G>T)
c.769G>T (p.Ala257Ser)
12g.55957276C>GCA385217565PMELc.1027G>C (p.Ala343Pro)
c.880G>C (p.Ala294Pro)
c.865G>C (p.Ala289Pro)
c.580G>C (p.Ala194Pro)
c.689G>C
n.67G>C
c.358+1197G>C (n.358+1197G>C)
c.769G>C (p.Ala257Pro)
12g.55957276C>TCA385217561PMELc.1027G>A (p.Ala343Thr)
c.880G>A (p.Ala294Thr)
c.865G>A (p.Ala289Thr)
c.580G>A (p.Ala194Thr)
c.689G>A
n.67G>A
c.358+1197G>A (n.358+1197G>A)
c.769G>A (p.Ala257Thr)
12g.55957277A>CCA480364877PMELc.1026T>G (p.Thr342=)
c.879T>G (p.Thr293=)
c.864T>G (p.Thr288=)
c.579T>G (p.Thr193=)
c.688T>G
n.66T>G
c.358+1196T>G (n.358+1196T>G)
c.768T>G (p.Thr256=)
12g.55957277A>GCA480364878PMELc.1026T>C (p.Thr342=)
c.879T>C (p.Thr293=)
c.864T>C (p.Thr288=)
c.579T>C (p.Thr193=)
c.688T>C
n.66T>C
c.358+1196T>C (n.358+1196T>C)
c.768T>C (p.Thr256=)
12g.55957277A>TCA480364879PMELc.1026T>A (p.Thr342=)
c.879T>A (p.Thr293=)
c.864T>A (p.Thr288=)
c.579T>A (p.Thr193=)
c.688T>A
n.66T>A
c.358+1196T>A (n.358+1196T>A)
c.768T>A (p.Thr256=)
12g.55957278G>ACA385217567PMELc.1025C>T (p.Thr342Ile)
c.878C>T (p.Thr293Ile)
c.863C>T (p.Thr288Ile)
c.578C>T (p.Thr193Ile)
c.687C>T
n.65C>T
c.358+1195C>T (n.358+1195C>T)
c.767C>T (p.Thr256Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55957278G>CCA385217568PMELc.1025C>G (p.Thr342Ser)
c.878C>G (p.Thr293Ser)
c.863C>G (p.Thr288Ser)
c.578C>G (p.Thr193Ser)
c.687C>G
n.65C>G
c.358+1195C>G (n.358+1195C>G)
c.767C>G (p.Thr256Ser)
12g.55957278G=CA2038181430PMELc.1025C= (p.Thr342=)
c.878C= (p.Thr293=)
c.863C= (p.Thr288=)
c.578C= (p.Thr193=)
c.687C=
n.65C=
c.358+1195C= (n.358+1195C=)
c.767C= (p.Thr256=)
12g.55957278G>TCA385217569PMELc.1025C>A (p.Thr342Asn)
c.878C>A (p.Thr293Asn)
c.863C>A (p.Thr288Asn)
c.578C>A (p.Thr193Asn)
c.687C>A
n.65C>A
c.358+1195C>A (n.358+1195C>A)
c.767C>A (p.Thr256Asn)
12g.55957279T>ACA385217571PMELc.1024A>T (p.Thr342Ser)
c.877A>T (p.Thr293Ser)
c.862A>T (p.Thr288Ser)
c.577A>T (p.Thr193Ser)
c.686A>T
n.64A>T
c.358+1194A>T (n.358+1194A>T)
c.766A>T (p.Thr256Ser)
12g.55957279T>CCA385217573PMELc.1024A>G (p.Thr342Ala)
c.877A>G (p.Thr293Ala)
c.862A>G (p.Thr288Ala)
c.577A>G (p.Thr193Ala)
c.686A>G
n.64A>G
c.358+1194A>G (n.358+1194A>G)
c.766A>G (p.Thr256Ala)
12g.55957279T>GCA385217574PMELc.1024A>C (p.Thr342Pro)
c.877A>C (p.Thr293Pro)
c.862A>C (p.Thr288Pro)
c.577A>C (p.Thr193Pro)
c.686A>C
n.64A>C
c.358+1194A>C (n.358+1194A>C)
c.766A>C (p.Thr256Pro)
12g.55957280T>ACA480364884PMELc.1023A>T (p.Pro341=)
c.876A>T (p.Pro292=)
c.861A>T (p.Pro287=)
c.576A>T (p.Pro192=)
c.685A>T
n.63A>T
c.358+1193A>T (n.358+1193A>T)
c.765A>T (p.Pro255=)
12g.55957280T>CCA480364885PMELc.1023A>G (p.Pro341=)
c.876A>G (p.Pro292=)
c.861A>G (p.Pro287=)
c.576A>G (p.Pro192=)
c.685A>G
n.63A>G
c.358+1193A>G (n.358+1193A>G)
c.765A>G (p.Pro255=)
12g.55957280T>GCA480364886PMELc.1023A>C (p.Pro341=)
c.876A>C (p.Pro292=)
c.861A>C (p.Pro287=)
c.576A>C (p.Pro192=)
c.685A>C
n.63A>C
c.358+1193A>C (n.358+1193A>C)
c.765A>C (p.Pro255=)
12g.55957281G>ACA385217576PMELc.1022C>T (p.Pro341Leu)
c.875C>T (p.Pro292Leu)
c.860C>T (p.Pro287Leu)
c.575C>T (p.Pro192Leu)
c.684C>T
n.62C>T
c.358+1192C>T (n.358+1192C>T)
c.764C>T (p.Pro255Leu)
12g.55957281G>CCA385217578PMELc.1022C>G (p.Pro341Arg)
c.875C>G (p.Pro292Arg)
c.860C>G (p.Pro287Arg)
c.575C>G (p.Pro192Arg)
c.684C>G
n.62C>G
c.358+1192C>G (n.358+1192C>G)
c.764C>G (p.Pro255Arg)
12g.55957281G>TCA385217579PMELc.1022C>A (p.Pro341Gln)
c.875C>A (p.Pro292Gln)
c.860C>A (p.Pro287Gln)
c.575C>A (p.Pro192Gln)
c.684C>A
n.62C>A
c.358+1192C>A (n.358+1192C>A)
c.764C>A (p.Pro255Gln)
12g.55957282G>ACA385217581PMELc.1021C>T (p.Pro341Ser)
c.874C>T (p.Pro292Ser)
c.859C>T (p.Pro287Ser)
c.574C>T (p.Pro192Ser)
c.683C>T
n.61C>T
c.358+1191C>T (n.358+1191C>T)
c.763C>T (p.Pro255Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.55957282G>CCA385217583PMELc.1021C>G (p.Pro341Ala)
c.874C>G (p.Pro292Ala)
c.859C>G (p.Pro287Ala)
c.574C>G (p.Pro192Ala)
c.683C>G
n.61C>G
c.358+1191C>G (n.358+1191C>G)
c.763C>G (p.Pro255Ala)
12g.55957282G=CA2038181434PMELc.1021C= (p.Pro341=)
c.874C= (p.Pro292=)
c.859C= (p.Pro287=)
c.574C= (p.Pro192=)
c.683C=
n.61C=
c.358+1191C= (n.358+1191C=)
c.763C= (p.Pro255=)
12g.55957282G>TCA385217585PMELc.1021C>A (p.Pro341Thr)
c.874C>A (p.Pro292Thr)
c.859C>A (p.Pro287Thr)
c.574C>A (p.Pro192Thr)
c.683C>A
n.61C>A
c.358+1191C>A (n.358+1191C>A)
c.763C>A (p.Pro255Thr)
 gnomAD v4
12g.55957283C>ACA480364889PMELc.1020G>T (p.Ala340=)
c.873G>T (p.Ala291=)
c.858G>T (p.Ala286=)
c.573G>T (p.Ala191=)
c.682G>T
n.60G>T
c.358+1190G>T (n.358+1190G>T)
c.762G>T (p.Ala254=)
12g.55957283C=CA2038181440PMELc.1020G= (p.Ala340=)
c.873G= (p.Ala291=)
c.858G= (p.Ala286=)
c.573G= (p.Ala191=)
c.682G=
n.60G=
c.358+1190G= (n.358+1190G=)
c.762G= (p.Ala254=)
12g.55957283C>GCA480364891PMELc.1020G>C (p.Ala340=)
c.873G>C (p.Ala291=)
c.858G>C (p.Ala286=)
c.573G>C (p.Ala191=)
c.682G>C
n.60G>C
c.358+1190G>C (n.358+1190G>C)
c.762G>C (p.Ala254=)
12g.55957283C>TCA6620085PMELc.1020G>A (p.Ala340=)
c.873G>A (p.Ala291=)
c.858G>A (p.Ala286=)
c.573G>A (p.Ala191=)
c.682G>A
n.60G>A
c.358+1190G>A (n.358+1190G>A)
c.762G>A (p.Ala254=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55957284G>ACA6620086PMELc.1019C>T (p.Ala340Val)
c.872C>T (p.Ala291Val)
c.857C>T (p.Ala286Val)
c.572C>T (p.Ala191Val)
c.681C>T
n.59C>T
c.358+1189C>T (n.358+1189C>T)
c.761C>T (p.Ala254Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.55957284G>CCA385217587PMELc.1019C>G (p.Ala340Gly)
c.872C>G (p.Ala291Gly)
c.857C>G (p.Ala286Gly)
c.572C>G (p.Ala191Gly)
c.681C>G
n.59C>G
c.358+1189C>G (n.358+1189C>G)
c.761C>G (p.Ala254Gly)
12g.55957284G=CA2038181444PMELc.1019C= (p.Ala340=)
c.872C= (p.Ala291=)
c.857C= (p.Ala286=)
c.572C= (p.Ala191=)
c.681C=
n.59C=
c.358+1189C= (n.358+1189C=)
c.761C= (p.Ala254=)
12g.55957284G>TCA6620087PMELc.1019C>A (p.Ala340Glu)
c.872C>A (p.Ala291Glu)
c.857C>A (p.Ala286Glu)
c.572C>A (p.Ala191Glu)
c.681C>A
n.59C>A
c.358+1189C>A (n.358+1189C>A)
c.761C>A (p.Ala254Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55957285C>ACA385217590PMELc.1018G>T (p.Ala340Ser)
c.871G>T (p.Ala291Ser)
c.856G>T (p.Ala286Ser)
c.571G>T (p.Ala191Ser)
c.680G>T
n.58G>T
c.358+1188G>T (n.358+1188G>T)
c.760G>T (p.Ala254Ser)
n.754G>T
12g.55957285C>GCA385217591PMELc.1018G>C (p.Ala340Pro)
c.871G>C (p.Ala291Pro)
c.856G>C (p.Ala286Pro)
c.571G>C (p.Ala191Pro)
c.680G>C
n.58G>C
c.358+1188G>C (n.358+1188G>C)
c.760G>C (p.Ala254Pro)
n.754G>C
12g.55957285C>TCA385217592PMELc.1018G>A (p.Ala340Thr)
c.871G>A (p.Ala291Thr)
c.856G>A (p.Ala286Thr)
c.571G>A (p.Ala191Thr)
c.680G>A
n.58G>A
c.358+1188G>A (n.358+1188G>A)
c.760G>A (p.Ala254Thr)
n.754G>A
12g.55957286C>ACA385217594PMELc.1017G>T (p.Gln339His)
c.870G>T (p.Gln290His)
c.855G>T (p.Gln285His)
c.570G>T (p.Gln190His)
c.679G>T
n.57G>T
c.358+1187G>T (n.358+1187G>T)
c.759G>T (p.Gln253His)
n.753G>T
12g.55957286C=CA2038181452PMELc.1017G= (p.Gln339=)
c.870G= (p.Gln290=)
c.855G= (p.Gln285=)
c.570G= (p.Gln190=)
c.679G=
n.57G=
c.358+1187G= (n.358+1187G=)
c.759G= (p.Gln253=)
n.753G=
12g.55957286C>GCA385217596PMELc.1017G>C (p.Gln339His)
c.870G>C (p.Gln290His)
c.855G>C (p.Gln285His)
c.570G>C (p.Gln190His)
c.679G>C
n.57G>C
c.358+1187G>C (n.358+1187G>C)
c.759G>C (p.Gln253His)
n.753G>C
12g.55957286C>TCA480364896PMELc.1017G>A (p.Gln339=)
c.870G>A (p.Gln290=)
c.855G>A (p.Gln285=)
c.570G>A (p.Gln190=)
c.679G>A
n.57G>A
c.358+1187G>A (n.358+1187G>A)
c.759G>A (p.Gln253=)
n.753G>A
 dbSNP
12g.55957287T>ACA385217597PMELc.1016A>T (p.Gln339Leu)
c.869A>T (p.Gln290Leu)
c.854A>T (p.Gln285Leu)
c.569A>T (p.Gln190Leu)
c.678A>T
n.56A>T
c.358+1186A>T (n.358+1186A>T)
c.758A>T (p.Gln253Leu)
n.752A>T
12g.55957287T>CCA385217599PMELc.1016A>G (p.Gln339Arg)
c.869A>G (p.Gln290Arg)
c.854A>G (p.Gln285Arg)
c.569A>G (p.Gln190Arg)
c.678A>G
n.56A>G
c.358+1186A>G (n.358+1186A>G)
c.758A>G (p.Gln253Arg)
n.752A>G
12g.55957287T>GCA385217600PMELc.1016A>C (p.Gln339Pro)
c.869A>C (p.Gln290Pro)
c.854A>C (p.Gln285Pro)
c.569A>C (p.Gln190Pro)
c.678A>C
n.56A>C
c.358+1186A>C (n.358+1186A>C)
c.758A>C (p.Gln253Pro)
n.752A>C
12g.55957288G>ACA237591020PMELc.1015C>T (p.Gln339Ter)
c.868C>T (p.Gln290Ter)
c.853C>T (p.Gln285Ter)
c.568C>T (p.Gln190Ter)
c.677C>T
n.55C>T
c.358+1185C>T (n.358+1185C>T)
c.757C>T (p.Gln253Ter)
n.751C>T
 dbSNP gnomAD v4
12g.55957288G>CCA385217603PMELc.1015C>G (p.Gln339Glu)
c.868C>G (p.Gln290Glu)
c.853C>G (p.Gln285Glu)
c.568C>G (p.Gln190Glu)
c.677C>G
n.55C>G
c.358+1185C>G (n.358+1185C>G)
c.757C>G (p.Gln253Glu)
n.751C>G
12g.55957288G=CA2038181455PMELc.1015C= (p.Gln339=)
c.868C= (p.Gln290=)
c.853C= (p.Gln285=)
c.568C= (p.Gln190=)
c.677C=
n.55C=
c.358+1185C= (n.358+1185C=)
c.757C= (p.Gln253=)
n.751C=
12g.55957288G>TCA385217604PMELc.1015C>A (p.Gln339Lys)
c.868C>A (p.Gln290Lys)
c.853C>A (p.Gln285Lys)
c.568C>A (p.Gln190Lys)
c.677C>A
n.55C>A
c.358+1185C>A (n.358+1185C>A)
c.757C>A (p.Gln253Lys)
n.751C>A
 gnomAD v4
12g.55957289A=CA2038181459PMELc.1014T= (p.Gly338=)
c.867T= (p.Gly289=)
c.852T= (p.Gly284=)
c.567T= (p.Gly189=)
c.676T=
n.54T=
c.358+1184T= (n.358+1184T=)
c.756T= (p.Gly252=)
n.750T=
12g.55957289A>CCA480364900PMELc.1014T>G (p.Gly338=)
c.867T>G (p.Gly289=)
c.852T>G (p.Gly284=)
c.567T>G (p.Gly189=)
c.676T>G
n.54T>G
c.358+1184T>G (n.358+1184T>G)
c.756T>G (p.Gly252=)
n.750T>G
12g.55957289A>GCA237591024PMELc.1014T>C (p.Gly338=)
c.867T>C (p.Gly289=)
c.852T>C (p.Gly284=)
c.567T>C (p.Gly189=)
c.676T>C
n.54T>C
c.358+1184T>C (n.358+1184T>C)
c.756T>C (p.Gly252=)
n.750T>C
 dbSNP gnomAD v3 gnomAD v4
12g.55957289A>TCA480364902PMELc.1014T>A (p.Gly338=)
c.867T>A (p.Gly289=)
c.852T>A (p.Gly284=)
c.567T>A (p.Gly189=)
c.676T>A
n.54T>A
c.358+1184T>A (n.358+1184T>A)
c.756T>A (p.Gly252=)
n.750T>A
12g.55957290C>ACA385217606PMELc.1013G>T (p.Gly338Val)
c.866G>T (p.Gly289Val)
c.851G>T (p.Gly284Val)
c.566G>T (p.Gly189Val)
c.675G>T
n.53G>T
c.358+1183G>T (n.358+1183G>T)
c.755G>T (p.Gly252Val)
n.749G>T
12g.55957290C=CA2038181466PMELc.1013G= (p.Gly338=)
c.866G= (p.Gly289=)
c.851G= (p.Gly284=)
c.566G= (p.Gly189=)
c.675G=
n.53G=
c.358+1183G= (n.358+1183G=)
c.755G= (p.Gly252=)
n.749G=
12g.55957290C>GCA385217608PMELc.1013G>C (p.Gly338Ala)
c.866G>C (p.Gly289Ala)
c.851G>C (p.Gly284Ala)
c.566G>C (p.Gly189Ala)
c.675G>C
n.53G>C
c.358+1183G>C (n.358+1183G>C)
c.755G>C (p.Gly252Ala)
n.749G>C
12g.55957290C>TCA237591025PMELc.1013G>A (p.Gly338Asp)
c.866G>A (p.Gly289Asp)
c.851G>A (p.Gly284Asp)
c.566G>A (p.Gly189Asp)
c.675G>A
n.53G>A
c.358+1183G>A (n.358+1183G>A)
c.755G>A (p.Gly252Asp)
n.749G>A
 dbSNP gnomAD v2 gnomAD v4
12g.55957291C>ACA385217611PMELc.1012G>T (p.Gly338Cys)
c.865G>T (p.Gly289Cys)
c.850G>T (p.Gly284Cys)
c.565G>T (p.Gly189Cys)
c.674G>T
n.52G>T
c.358+1182G>T (n.358+1182G>T)
c.754G>T (p.Gly252Cys)
n.748G>T
12g.55957291C>GCA385217612PMELc.1012G>C (p.Gly338Arg)
c.865G>C (p.Gly289Arg)
c.850G>C (p.Gly284Arg)
c.565G>C (p.Gly189Arg)
c.674G>C
n.52G>C
c.358+1182G>C (n.358+1182G>C)
c.754G>C (p.Gly252Arg)
n.748G>C
12g.55957291C>TCA385217610PMELc.1012G>A (p.Gly338Ser)
c.865G>A (p.Gly289Ser)
c.850G>A (p.Gly284Ser)
c.565G>A (p.Gly189Ser)
c.674G>A
n.52G>A
c.358+1182G>A (n.358+1182G>A)
c.754G>A (p.Gly252Ser)
n.748G>A
 COSMIC
12g.55957292A>CCA480364906PMELc.1011T>G (p.Pro337=)
c.864T>G (p.Pro288=)
c.849T>G (p.Pro283=)
c.564T>G (p.Pro188=)
c.673T>G
n.51T>G
c.358+1181T>G (n.358+1181T>G)
c.753T>G (p.Pro251=)
n.747T>G
12g.55957292A>GCA480364907PMELc.1011T>C (p.Pro337=)
c.864T>C (p.Pro288=)
c.849T>C (p.Pro283=)
c.564T>C (p.Pro188=)
c.673T>C
n.51T>C
c.358+1181T>C (n.358+1181T>C)
c.753T>C (p.Pro251=)
n.747T>C
12g.55957292A>TCA480364908PMELc.1011T>A (p.Pro337=)
c.864T>A (p.Pro288=)
c.849T>A (p.Pro283=)
c.564T>A (p.Pro188=)
c.673T>A
n.51T>A
c.358+1181T>A (n.358+1181T>A)
c.753T>A (p.Pro251=)
n.747T>A
12g.55957293G>ACA385217615PMELc.1010C>T (p.Pro337Leu)
c.863C>T (p.Pro288Leu)
c.848C>T (p.Pro283Leu)
c.563C>T (p.Pro188Leu)
c.672C>T
n.50C>T
c.358+1180C>T (n.358+1180C>T)
c.752C>T (p.Pro251Leu)
n.746C>T
12g.55957293G>CCA385217613PMELc.1010C>G (p.Pro337Arg)
c.863C>G (p.Pro288Arg)
c.848C>G (p.Pro283Arg)
c.563C>G (p.Pro188Arg)
c.672C>G
n.50C>G
c.358+1180C>G (n.358+1180C>G)
c.752C>G (p.Pro251Arg)
n.746C>G
 dbSNP gnomAD v2 gnomAD v4
12g.55957293G=CA2038181472PMELc.1010C= (p.Pro337=)
c.863C= (p.Pro288=)
c.848C= (p.Pro283=)
c.563C= (p.Pro188=)
c.672C=
n.50C=
c.358+1180C= (n.358+1180C=)
c.752C= (p.Pro251=)
n.746C=
12g.55957293G>TCA385217617PMELc.1010C>A (p.Pro337His)
c.863C>A (p.Pro288His)
c.848C>A (p.Pro283His)
c.563C>A (p.Pro188His)
c.672C>A
n.50C>A
c.358+1180C>A (n.358+1180C>A)
c.752C>A (p.Pro251His)
n.746C>A
12g.55957294G>ACA385217619PMELc.1009C>T (p.Pro337Ser)
c.862C>T (p.Pro288Ser)
c.847C>T (p.Pro283Ser)
c.562C>T (p.Pro188Ser)
c.671C>T
n.49C>T
c.358+1179C>T (n.358+1179C>T)
c.751C>T (p.Pro251Ser)
n.745C>T
12g.55957294G>CCA6620088PMELc.1009C>G (p.Pro337Ala)
c.862C>G (p.Pro288Ala)
c.847C>G (p.Pro283Ala)
c.562C>G (p.Pro188Ala)
c.671C>G
n.49C>G
c.358+1179C>G (n.358+1179C>G)
c.751C>G (p.Pro251Ala)
n.745C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55957294G=CA2038181475PMELc.1009C= (p.Pro337=)
c.862C= (p.Pro288=)
c.847C= (p.Pro283=)
c.562C= (p.Pro188=)
c.671C=
n.49C=
c.358+1179C= (n.358+1179C=)
c.751C= (p.Pro251=)
n.745C=
12g.55957294G>TCA385217620PMELc.1009C>A (p.Pro337Thr)
c.862C>A (p.Pro288Thr)
c.847C>A (p.Pro283Thr)
c.562C>A (p.Pro188Thr)
c.671C>A
n.49C>A
c.358+1179C>A (n.358+1179C>A)
c.751C>A (p.Pro251Thr)
n.745C>A
12g.55957296_55957297delCA2619241067PMELc.1008_1009del (p.Pro337TrpfsTer20)
c.861_862del (p.Pro288TrpfsTer?)
c.846_847del (p.Pro283TrpfsTer20)
c.561_562del (p.Pro188TrpfsTer20)
c.670_671del
n.48_49del
c.358+1178_358+1179del (n.358+1178_358+1179del)
c.750_751del (p.Pro251TrpfsTer20)
n.744_745del
 gnomAD v4
12g.55957295T>ACA480364910PMELc.1008A>T (p.Thr336=)
c.861A>T (p.Thr287=)
c.846A>T (p.Thr282=)
c.561A>T (p.Thr187=)
c.670A>T
n.48A>T
c.358+1178A>T (n.358+1178A>T)
c.750A>T (p.Thr250=)
n.744A>T
12g.55957295T>CCA480364912PMELc.1008A>G (p.Thr336=)
c.861A>G (p.Thr287=)
c.846A>G (p.Thr282=)
c.561A>G (p.Thr187=)
c.670A>G
n.48A>G
c.358+1178A>G (n.358+1178A>G)
c.750A>G (p.Thr250=)
n.744A>G
12g.55957295T>GCA480364911PMELc.1008A>C (p.Thr336=)
c.861A>C (p.Thr287=)
c.846A>C (p.Thr282=)
c.561A>C (p.Thr187=)
c.670A>C
n.48A>C
c.358+1178A>C (n.358+1178A>C)
c.750A>C (p.Thr250=)
n.744A>C
12g.55957296G>ACA385217622PMELc.1007C>T (p.Thr336Ile)
c.860C>T (p.Thr287Ile)
c.845C>T (p.Thr282Ile)
c.560C>T (p.Thr187Ile)
c.669C>T
n.47C>T
c.358+1177C>T (n.358+1177C>T)
c.749C>T (p.Thr250Ile)
n.743C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55957296G>CCA385217624PMELc.1007C>G (p.Thr336Arg)
c.860C>G (p.Thr287Arg)
c.845C>G (p.Thr282Arg)
c.560C>G (p.Thr187Arg)
c.669C>G
n.47C>G
c.358+1177C>G (n.358+1177C>G)
c.749C>G (p.Thr250Arg)
n.743C>G
12g.55957296G=CA2038181477PMELc.1007C= (p.Thr336=)
c.860C= (p.Thr287=)
c.845C= (p.Thr282=)
c.560C= (p.Thr187=)
c.669C=
n.47C=
c.358+1177C= (n.358+1177C=)
c.749C= (p.Thr250=)
n.743C=
12g.55957296G>TCA385217626PMELc.1007C>A (p.Thr336Lys)
c.860C>A (p.Thr287Lys)
c.845C>A (p.Thr282Lys)
c.560C>A (p.Thr187Lys)
c.669C>A
n.47C>A
c.358+1177C>A (n.358+1177C>A)
c.749C>A (p.Thr250Lys)
n.743C>A
12g.55957299_55957301delCA2619241070PMELc.1005_1007del (p.Thr336del)
c.858_860del (p.Thr287del)
c.843_845del (p.Thr282del)
c.558_560del (p.Thr187del)
c.667_669del
n.45_47del
c.358+1175_358+1177del (n.358+1175_358+1177del)
c.747_749del (p.Thr250del)
n.741_743del
 gnomAD v4
12g.55957297T>ACA385217627PMELc.1006A>T (p.Thr336Ser)
c.859A>T (p.Thr287Ser)
c.844A>T (p.Thr282Ser)
c.559A>T (p.Thr187Ser)
c.668A>T
n.46A>T
c.358+1176A>T (n.358+1176A>T)
c.748A>T (p.Thr250Ser)
n.742A>T
12g.55957297T>CCA385217629PMELc.1006A>G (p.Thr336Ala)
c.859A>G (p.Thr287Ala)
c.844A>G (p.Thr282Ala)
c.559A>G (p.Thr187Ala)
c.668A>G
n.46A>G
c.358+1176A>G (n.358+1176A>G)
c.748A>G (p.Thr250Ala)
n.742A>G
12g.55957297T>GCA385217631PMELc.1006A>C (p.Thr336Pro)
c.859A>C (p.Thr287Pro)
c.844A>C (p.Thr282Pro)
c.559A>C (p.Thr187Pro)
c.668A>C
n.46A>C
c.358+1176A>C (n.358+1176A>C)
c.748A>C (p.Thr250Pro)
n.742A>C
12g.55957298A>CCA480364918PMELc.1005T>G (p.Thr335=)
c.858T>G (p.Thr286=)
c.843T>G (p.Thr281=)
c.558T>G (p.Thr186=)
c.667T>G
n.45T>G
c.358+1175T>G (n.358+1175T>G)
c.747T>G (p.Thr249=)
n.741T>G
12g.55957298A>GCA480364919PMELc.1005T>C (p.Thr335=)
c.858T>C (p.Thr286=)
c.843T>C (p.Thr281=)
c.558T>C (p.Thr186=)
c.667T>C
n.45T>C
c.358+1175T>C (n.358+1175T>C)
c.747T>C (p.Thr249=)
n.741T>C
12g.55957298A>TCA480364920PMELc.1005T>A (p.Thr335=)
c.858T>A (p.Thr286=)
c.843T>A (p.Thr281=)
c.558T>A (p.Thr186=)
c.667T>A
n.45T>A
c.358+1175T>A (n.358+1175T>A)
c.747T>A (p.Thr249=)
n.741T>A
12g.55957299G>ACA385217632PMELc.1004C>T (p.Thr335Ile)
c.857C>T (p.Thr286Ile)
c.842C>T (p.Thr281Ile)
c.557C>T (p.Thr186Ile)
c.666C>T
n.44C>T
c.358+1174C>T (n.358+1174C>T)
c.746C>T (p.Thr249Ile)
n.740C>T
12g.55957299G>CCA385217634PMELc.1004C>G (p.Thr335Ser)
c.857C>G (p.Thr286Ser)
c.842C>G (p.Thr281Ser)
c.557C>G (p.Thr186Ser)
c.666C>G
n.44C>G
c.358+1174C>G (n.358+1174C>G)
c.746C>G (p.Thr249Ser)
n.740C>G
12g.55957299G>TCA385217636PMELc.1004C>A (p.Thr335Asn)
c.857C>A (p.Thr286Asn)
c.842C>A (p.Thr281Asn)
c.557C>A (p.Thr186Asn)
c.666C>A
n.44C>A
c.358+1174C>A (n.358+1174C>A)
c.746C>A (p.Thr249Asn)
n.740C>A
 gnomAD v4
12g.55957300T>ACA385217639PMELc.1003A>T (p.Thr335Ser)
c.856A>T (p.Thr286Ser)
c.841A>T (p.Thr281Ser)
c.556A>T (p.Thr186Ser)
c.665A>T
n.43A>T
c.358+1173A>T (n.358+1173A>T)
c.745A>T (p.Thr249Ser)
n.739A>T
12g.55957300T>CCA6620089PMELc.1003A>G (p.Thr335Ala)
c.856A>G (p.Thr286Ala)
c.841A>G (p.Thr281Ala)
c.556A>G (p.Thr186Ala)
c.665A>G
n.43A>G
c.358+1173A>G (n.358+1173A>G)
c.745A>G (p.Thr249Ala)
n.739A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55957300T>GCA385217638PMELc.1003A>C (p.Thr335Pro)
c.856A>C (p.Thr286Pro)
c.841A>C (p.Thr281Pro)
c.556A>C (p.Thr186Pro)
c.665A>C
n.43A>C
c.358+1173A>C (n.358+1173A>C)
c.745A>C (p.Thr249Pro)
n.739A>C
12g.55957300T=CA2038181482PMELc.1003A= (p.Thr335=)
c.856A= (p.Thr286=)
c.841A= (p.Thr281=)
c.556A= (p.Thr186=)
c.665A=
n.43A=
c.358+1173A= (n.358+1173A=)
c.745A= (p.Thr249=)
n.739A=
12g.55957301A>CCA480364922PMELc.1002T>G (p.Gly334=)
c.855T>G (p.Gly285=)
c.840T>G (p.Gly280=)
c.555T>G (p.Gly185=)
c.664T>G
n.42T>G
c.358+1172T>G (n.358+1172T>G)
c.744T>G (p.Gly248=)
n.738T>G
12g.55957301A>GCA480364923PMELc.1002T>C (p.Gly334=)
c.855T>C (p.Gly285=)
c.840T>C (p.Gly280=)
c.555T>C (p.Gly185=)
c.664T>C
n.42T>C
c.358+1172T>C (n.358+1172T>C)
c.744T>C (p.Gly248=)
n.738T>C
12g.55957301A>TCA480364924PMELc.1002T>A (p.Gly334=)
c.855T>A (p.Gly285=)
c.840T>A (p.Gly280=)
c.555T>A (p.Gly185=)
c.664T>A
n.42T>A
c.358+1172T>A (n.358+1172T>A)
c.744T>A (p.Gly248=)
n.738T>A
12g.55957302C>ACA385217642PMELc.1001G>T (p.Gly334Val)
c.854G>T (p.Gly285Val)
c.839G>T (p.Gly280Val)
c.554G>T (p.Gly185Val)
c.663G>T
n.41G>T
c.358+1171G>T (n.358+1171G>T)
c.743G>T (p.Gly248Val)
n.737G>T
12g.55957302C>GCA385217643PMELc.1001G>C (p.Gly334Ala)
c.854G>C (p.Gly285Ala)
c.839G>C (p.Gly280Ala)
c.554G>C (p.Gly185Ala)
c.663G>C
n.41G>C
c.358+1171G>C (n.358+1171G>C)
c.743G>C (p.Gly248Ala)
n.737G>C
12g.55957302C>TCA385217644PMELc.1001G>A (p.Gly334Asp)
c.854G>A (p.Gly285Asp)
c.839G>A (p.Gly280Asp)
c.554G>A (p.Gly185Asp)
c.663G>A
n.41G>A
c.358+1171G>A (n.358+1171G>A)
c.743G>A (p.Gly248Asp)
n.737G>A
12g.55957304delCA2575274099PMELc.1001del (p.Gly334ValfsTer26)
c.854del (p.Gly285ValfsTer?)
c.839del (p.Gly280ValfsTer26)
c.554del (p.Gly185ValfsTer26)
c.663del
n.41del
c.358+1171del (n.358+1171del)
c.743del (p.Gly248ValfsTer26)
n.737del
12g.55957303C>ACA385217646PMELc.1000G>T (p.Gly334Cys)
c.853G>T (p.Gly285Cys)
c.838G>T (p.Gly280Cys)
c.553G>T (p.Gly185Cys)
c.662G>T
n.40G>T
c.358+1170G>T (n.358+1170G>T)
c.742G>T (p.Gly248Cys)
n.736G>T
12g.55957303C=CA2038181487PMELc.1000G= (p.Gly334=)
c.853G= (p.Gly285=)
c.838G= (p.Gly280=)
c.553G= (p.Gly185=)
c.662G=
n.40G=
c.358+1170G= (n.358+1170G=)
c.742G= (p.Gly248=)
n.736G=
12g.55957303C>GCA6620090PMELc.1000G>C (p.Gly334Arg)
c.853G>C (p.Gly285Arg)
c.838G>C (p.Gly280Arg)
c.553G>C (p.Gly185Arg)
c.662G>C
n.40G>C
c.358+1170G>C (n.358+1170G>C)
c.742G>C (p.Gly248Arg)
n.736G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55957303C>TCA385217647PMELc.1000G>A (p.Gly334Ser)
c.853G>A (p.Gly285Ser)
c.838G>A (p.Gly280Ser)
c.553G>A (p.Gly185Ser)
c.662G>A
n.40G>A
c.358+1170G>A (n.358+1170G>A)
c.742G>A (p.Gly248Ser)
n.736G>A
 gnomAD v4
12g.55957304C>ACA480364931PMELc.999G>T (p.Val333=)
c.852G>T (p.Val284=)
c.837G>T (p.Val279=)
c.552G>T (p.Val184=)
c.661G>T
n.39G>T
c.358+1169G>T (n.358+1169G>T)
c.741G>T (p.Val247=)
n.735G>T
12g.55957304C>GCA480364932PMELc.999G>C (p.Val333=)
c.852G>C (p.Val284=)
c.837G>C (p.Val279=)
c.552G>C (p.Val184=)
c.661G>C
n.39G>C
c.358+1169G>C (n.358+1169G>C)
c.741G>C (p.Val247=)
n.735G>C
12g.55957304C>TCA480364933PMELc.999G>A (p.Val333=)
c.852G>A (p.Val284=)
c.837G>A (p.Val279=)
c.552G>A (p.Val184=)
c.661G>A
n.39G>A
c.358+1169G>A (n.358+1169G>A)
c.741G>A (p.Val247=)
n.735G>A
12g.55957305A>CCA385217648PMELc.998T>G (p.Val333Gly)
c.851T>G (p.Val284Gly)
c.836T>G (p.Val279Gly)
c.551T>G (p.Val184Gly)
c.660T>G
n.38T>G
c.358+1168T>G (n.358+1168T>G)
c.740T>G (p.Val247Gly)
n.734T>G
12g.55957305A>GCA385217650PMELc.998T>C (p.Val333Ala)
c.851T>C (p.Val284Ala)
c.836T>C (p.Val279Ala)
c.551T>C (p.Val184Ala)
c.660T>C
n.38T>C
c.358+1168T>C (n.358+1168T>C)
c.740T>C (p.Val247Ala)
n.734T>C
 gnomAD v4
12g.55957305A>TCA385217652PMELc.998T>A (p.Val333Glu)
c.851T>A (p.Val284Glu)
c.836T>A (p.Val279Glu)
c.551T>A (p.Val184Glu)
c.660T>A
n.38T>A
c.358+1168T>A (n.358+1168T>A)
c.740T>A (p.Val247Glu)
n.734T>A
12g.55957306C>ACA385217653PMELc.997G>T (p.Val333Leu)
c.850G>T (p.Val284Leu)
c.835G>T (p.Val279Leu)
c.550G>T (p.Val184Leu)
c.659G>T
n.37G>T
c.358+1167G>T (n.358+1167G>T)
c.739G>T (p.Val247Leu)
n.733G>T
 gnomAD v4
12g.55957306C=CA2038181489PMELc.997G= (p.Val333=)
c.850G= (p.Val284=)
c.835G= (p.Val279=)
c.550G= (p.Val184=)
c.659G=
n.37G=
c.358+1167G= (n.358+1167G=)
c.739G= (p.Val247=)
n.733G=
12g.55957306C>GCA385217654PMELc.997G>C (p.Val333Leu)
c.850G>C (p.Val284Leu)
c.835G>C (p.Val279Leu)
c.550G>C (p.Val184Leu)
c.659G>C
n.37G>C
c.358+1167G>C (n.358+1167G>C)
c.739G>C (p.Val247Leu)
n.733G>C
12g.55957306C>TCA385217656PMELc.997G>A (p.Val333Met)
c.850G>A (p.Val284Met)
c.835G>A (p.Val279Met)
c.550G>A (p.Val184Met)
c.659G>A
n.37G>A
c.358+1167G>A (n.358+1167G>A)
c.739G>A (p.Val247Met)
n.733G>A
 dbSNP gnomAD v3 gnomAD v4
12g.55957307A>CCA480364938PMELc.996T>G (p.Val332=)
c.849T>G (p.Val283=)
c.834T>G (p.Val278=)
c.549T>G (p.Val183=)
c.658T>G
n.36T>G
c.358+1166T>G (n.358+1166T>G)
c.738T>G (p.Val246=)
n.732T>G
12g.55957307A>GCA480364940PMELc.996T>C (p.Val332=)
c.849T>C (p.Val283=)
c.834T>C (p.Val278=)
c.549T>C (p.Val183=)
c.658T>C
n.36T>C
c.358+1166T>C (n.358+1166T>C)
c.738T>C (p.Val246=)
n.732T>C
 dbSNP
12g.55957307A>TCA480364939PMELc.996T>A (p.Val332=)
c.849T>A (p.Val283=)
c.834T>A (p.Val278=)
c.549T>A (p.Val183=)
c.658T>A
n.36T>A
c.358+1166T>A (n.358+1166T>A)
c.738T>A (p.Val246=)
n.732T>A
12g.55957308A>CCA385217661PMELc.995T>G (p.Val332Gly)
c.848T>G (p.Val283Gly)
c.833T>G (p.Val278Gly)
c.548T>G (p.Val183Gly)
c.657T>G
n.35T>G
c.358+1165T>G (n.358+1165T>G)
c.737T>G (p.Val246Gly)
n.731T>G
12g.55957308A>GCA385217660PMELc.995T>C (p.Val332Ala)
c.848T>C (p.Val283Ala)
c.833T>C (p.Val278Ala)
c.548T>C (p.Val183Ala)
c.657T>C
n.35T>C
c.358+1165T>C (n.358+1165T>C)
c.737T>C (p.Val246Ala)
n.731T>C
 gnomAD v4
12g.55957308A>TCA385217658PMELc.995T>A (p.Val332Asp)
c.848T>A (p.Val283Asp)
c.833T>A (p.Val278Asp)
c.548T>A (p.Val183Asp)
c.657T>A
n.35T>A
c.358+1165T>A (n.358+1165T>A)
c.737T>A (p.Val246Asp)
n.731T>A
12g.55957309C>ACA385217666PMELc.994G>T (p.Val332Phe)
c.847G>T (p.Val283Phe)
c.832G>T (p.Val278Phe)
c.547G>T (p.Val183Phe)
c.656G>T
n.34G>T
c.358+1164G>T (n.358+1164G>T)
c.736G>T (p.Val246Phe)
n.730G>T
12g.55957309C=CA2038181492PMELc.994G= (p.Val332=)
c.847G= (p.Val283=)
c.832G= (p.Val278=)
c.547G= (p.Val183=)
c.656G=
n.34G=
c.358+1164G= (n.358+1164G=)
c.736G= (p.Val246=)
n.730G=
12g.55957309C>GCA385217663PMELc.994G>C (p.Val332Leu)
c.847G>C (p.Val283Leu)
c.832G>C (p.Val278Leu)
c.547G>C (p.Val183Leu)
c.656G>C
n.34G>C
c.358+1164G>C (n.358+1164G>C)
c.736G>C (p.Val246Leu)
n.730G>C
12g.55957309C>TCA6620091PMELc.994G>A (p.Val332Ile)
c.847G>A (p.Val283Ile)
c.832G>A (p.Val278Ile)
c.547G>A (p.Val183Ile)
c.656G>A
n.34G>A
c.358+1164G>A (n.358+1164G>A)
c.736G>A (p.Val246Ile)
n.730G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched