Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27097542A>CCA346162401KHKc.457A>C (p.Ile153Leu)
c.592A>C (p.Ile198Leu)
n.383A>C
n.527A>C
n.805A>C
c.595A>C (p.Ile199Leu)
c.460A>C (p.Ile154Leu)
c.205A>C (p.Ile69Leu)
c.322A>C (p.Ile108Leu)
2g.27097542A>GCA346162403KHKc.457A>G (p.Ile153Val)
c.592A>G (p.Ile198Val)
n.383A>G
n.527A>G
n.805A>G
c.595A>G (p.Ile199Val)
c.460A>G (p.Ile154Val)
c.205A>G (p.Ile69Val)
c.322A>G (p.Ile108Val)
2g.27097542A>TCA346162404KHKc.457A>T (p.Ile153Leu)
c.592A>T (p.Ile198Leu)
n.383A>T
n.527A>T
n.805A>T
c.595A>T (p.Ile199Leu)
c.460A>T (p.Ile154Leu)
c.205A>T (p.Ile69Leu)
c.322A>T (p.Ile108Leu)
2g.27097543T>ACA346162405KHKc.458T>A (p.Ile153Lys)
c.593T>A (p.Ile198Lys)
n.384T>A
n.528T>A
n.806T>A
c.596T>A (p.Ile199Lys)
c.461T>A (p.Ile154Lys)
c.206T>A (p.Ile69Lys)
c.323T>A (p.Ile108Lys)
 dbSNP
2g.27097543T>CCA346162407KHKc.458T>C (p.Ile153Thr)
c.593T>C (p.Ile198Thr)
n.384T>C
n.528T>C
n.806T>C
c.596T>C (p.Ile199Thr)
c.461T>C (p.Ile154Thr)
c.206T>C (p.Ile69Thr)
c.323T>C (p.Ile108Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.27097543T>GCA346162406KHKc.458T>G (p.Ile153Arg)
c.593T>G (p.Ile198Arg)
n.384T>G
n.528T>G
n.806T>G
c.596T>G (p.Ile199Arg)
c.461T>G (p.Ile154Arg)
c.206T>G (p.Ile69Arg)
c.323T>G (p.Ile108Arg)
2g.27097543T=CA1240115331KHKc.458T= (p.Ile153=)
c.593T= (p.Ile198=)
n.384T=
n.528T=
n.806T=
c.596T= (p.Ile199=)
c.461T= (p.Ile154=)
c.206T= (p.Ile69=)
c.323T= (p.Ile108=)
2g.27097544A>CCA425384355KHKc.459A>C (p.Ile153=)
c.594A>C (p.Ile198=)
n.385A>C
n.529A>C
n.807A>C
c.597A>C (p.Ile199=)
c.462A>C (p.Ile154=)
c.207A>C (p.Ile69=)
c.324A>C (p.Ile108=)
2g.27097544A>GCA346162410KHKc.459A>G (p.Ile153Met)
c.594A>G (p.Ile198Met)
n.385A>G
n.529A>G
n.807A>G
c.597A>G (p.Ile199Met)
c.462A>G (p.Ile154Met)
c.207A>G (p.Ile69Met)
c.324A>G (p.Ile108Met)
2g.27097544A>TCA425384354KHKc.459A>T (p.Ile153=)
c.594A>T (p.Ile198=)
n.385A>T
n.529A>T
n.807A>T
c.597A>T (p.Ile199=)
c.462A>T (p.Ile154=)
c.207A>T (p.Ile69=)
c.324A>T (p.Ile108=)
2g.27097545G>ACA1569303KHKc.460G>A (p.Asp154Asn)
c.595G>A (p.Asp199Asn)
n.386G>A
n.530G>A
n.808G>A
c.598G>A (p.Asp200Asn)
c.463G>A (p.Asp155Asn)
c.208G>A (p.Asp70Asn)
c.325G>A (p.Asp109Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27097545G>CCA346162415KHKc.460G>C (p.Asp154His)
c.595G>C (p.Asp199His)
n.386G>C
n.530G>C
n.808G>C
c.598G>C (p.Asp200His)
c.463G>C (p.Asp155His)
c.208G>C (p.Asp70His)
c.325G>C (p.Asp109His)
2g.27097545G=CA1240115332KHKc.460G= (p.Asp154=)
c.595G= (p.Asp199=)
n.386G=
n.530G=
n.808G=
c.598G= (p.Asp200=)
c.463G= (p.Asp155=)
c.208G= (p.Asp70=)
c.325G= (p.Asp109=)
2g.27097545G>TCA346162416KHKc.460G>T (p.Asp154Tyr)
c.595G>T (p.Asp199Tyr)
n.386G>T
n.530G>T
n.808G>T
c.598G>T (p.Asp200Tyr)
c.463G>T (p.Asp155Tyr)
c.208G>T (p.Asp70Tyr)
c.325G>T (p.Asp109Tyr)
 gnomAD v4
2g.27097546A=CA1240115333KHKc.461A= (p.Asp154=)
c.596A= (p.Asp199=)
n.387A=
n.531A=
n.809A=
c.599A= (p.Asp200=)
c.464A= (p.Asp155=)
c.209A= (p.Asp70=)
c.326A= (p.Asp109=)
2g.27097546A>CCA346162418KHKc.461A>C (p.Asp154Ala)
c.596A>C (p.Asp199Ala)
n.387A>C
n.531A>C
n.809A>C
c.599A>C (p.Asp200Ala)
c.464A>C (p.Asp155Ala)
c.209A>C (p.Asp70Ala)
c.326A>C (p.Asp109Ala)
2g.27097546A>GCA346162424KHKc.461A>G (p.Asp154Gly)
c.596A>G (p.Asp199Gly)
n.387A>G
n.531A>G
n.809A>G
c.599A>G (p.Asp200Gly)
c.464A>G (p.Asp155Gly)
c.209A>G (p.Asp70Gly)
c.326A>G (p.Asp109Gly)
 dbSNP gnomAD v2
2g.27097546A>TCA346162421KHKc.461A>T (p.Asp154Val)
c.596A>T (p.Asp199Val)
n.387A>T
n.531A>T
n.809A>T
c.599A>T (p.Asp200Val)
c.464A>T (p.Asp155Val)
c.209A>T (p.Asp70Val)
c.326A>T (p.Asp109Val)
2g.27097548_27097551delCA2576702932KHKc.463_466del (p.Ala155ThrfsTer?)
c.598_601del (p.Ala200ThrfsTer?)
n.389_392del
n.533_536del
n.811_814del
c.601_604del (p.Ala201ThrfsTer?)
c.466_469del (p.Ala156ThrfsTer?)
c.211_214del (p.Ala71ThrfsTer?)
c.328_331del (p.Ala110ThrfsTer?)
2g.27097547C>ACA346162426KHKc.462C>A (p.Asp154Glu)
c.597C>A (p.Asp199Glu)
n.388C>A
n.532C>A
n.810C>A
c.600C>A (p.Asp200Glu)
c.465C>A (p.Asp155Glu)
c.210C>A (p.Asp70Glu)
c.327C>A (p.Asp109Glu)
 gnomAD v4
2g.27097547C=CA1240115334KHKc.462C= (p.Asp154=)
c.597C= (p.Asp199=)
n.388C=
n.532C=
n.810C=
c.600C= (p.Asp200=)
c.465C= (p.Asp155=)
c.210C= (p.Asp70=)
c.327C= (p.Asp109=)
2g.27097547C>GCA346162427KHKc.462C>G (p.Asp154Glu)
c.597C>G (p.Asp199Glu)
n.388C>G
n.532C>G
n.810C>G
c.600C>G (p.Asp200Glu)
c.465C>G (p.Asp155Glu)
c.210C>G (p.Asp70Glu)
c.327C>G (p.Asp109Glu)
2g.27097547C>TCA1569304KHKc.462C>T (p.Asp154=)
c.597C>T (p.Asp199=)
n.388C>T
n.532C>T
n.810C>T
c.600C>T (p.Asp200=)
c.465C>T (p.Asp155=)
c.210C>T (p.Asp70=)
c.327C>T (p.Asp109=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27097548G>ACA1569305KHKc.463G>A (p.Ala155Thr)
c.598G>A (p.Ala200Thr)
n.389G>A
n.533G>A
n.811G>A
c.601G>A (p.Ala201Thr)
c.466G>A (p.Ala156Thr)
c.211G>A (p.Ala71Thr)
c.328G>A (p.Ala110Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.27097548G>CCA346162433KHKc.463G>C (p.Ala155Pro)
c.598G>C (p.Ala200Pro)
n.389G>C
n.533G>C
n.811G>C
c.601G>C (p.Ala201Pro)
c.466G>C (p.Ala156Pro)
c.211G>C (p.Ala71Pro)
c.328G>C (p.Ala110Pro)
2g.27097548G=CA1240115335KHKc.463G= (p.Ala155=)
c.598G= (p.Ala200=)
n.389G=
n.533G=
n.811G=
c.601G= (p.Ala201=)
c.466G= (p.Ala156=)
c.211G= (p.Ala71=)
c.328G= (p.Ala110=)
2g.27097548G>TCA346162434KHKc.463G>T (p.Ala155Ser)
c.598G>T (p.Ala200Ser)
n.389G>T
n.533G>T
n.811G>T
c.601G>T (p.Ala201Ser)
c.466G>T (p.Ala156Ser)
c.211G>T (p.Ala71Ser)
c.328G>T (p.Ala110Ser)
2g.27097549C>ACA346162437KHKc.464C>A (p.Ala155Glu)
c.599C>A (p.Ala200Glu)
n.390C>A
n.534C>A
n.812C>A
c.602C>A (p.Ala201Glu)
c.467C>A (p.Ala156Glu)
c.212C>A (p.Ala71Glu)
c.329C>A (p.Ala110Glu)
 gnomAD v4
2g.27097549C=CA1240115336KHKc.464C= (p.Ala155=)
c.599C= (p.Ala200=)
n.390C=
n.534C=
n.812C=
c.602C= (p.Ala201=)
c.467C= (p.Ala156=)
c.212C= (p.Ala71=)
c.329C= (p.Ala110=)
2g.27097549C>GCA346162438KHKc.464C>G (p.Ala155Gly)
c.599C>G (p.Ala200Gly)
n.390C>G
n.534C>G
n.812C>G
c.602C>G (p.Ala201Gly)
c.467C>G (p.Ala156Gly)
c.212C>G (p.Ala71Gly)
c.329C>G (p.Ala110Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.27097549C>TCA44471991KHKc.464C>T (p.Ala155Val)
c.599C>T (p.Ala200Val)
n.390C>T
n.534C>T
n.812C>T
c.602C>T (p.Ala201Val)
c.467C>T (p.Ala156Val)
c.212C>T (p.Ala71Val)
c.329C>T (p.Ala110Val)
 dbSNP gnomAD v4
2g.27097550A>CCA425384359KHKc.465A>C (p.Ala155=)
c.600A>C (p.Ala200=)
n.391A>C
n.535A>C
n.813A>C
c.603A>C (p.Ala201=)
c.468A>C (p.Ala156=)
c.213A>C (p.Ala71=)
c.330A>C (p.Ala110=)
2g.27097550A>GCA425384361KHKc.465A>G (p.Ala155=)
c.600A>G (p.Ala200=)
n.391A>G
n.535A>G
n.813A>G
c.603A>G (p.Ala201=)
c.468A>G (p.Ala156=)
c.213A>G (p.Ala71=)
c.330A>G (p.Ala110=)
 dbSNP gnomAD v4
2g.27097550A>TCA425384360KHKc.465A>T (p.Ala155=)
c.600A>T (p.Ala200=)
n.391A>T
n.535A>T
n.813A>T
c.603A>T (p.Ala201=)
c.468A>T (p.Ala156=)
c.213A>T (p.Ala71=)
c.330A>T (p.Ala110=)
2g.27097551C>ACA346162439KHKc.466C>A (p.His156Asn)
c.601C>A (p.His201Asn)
n.392C>A
n.536C>A
n.814C>A
c.604C>A (p.His202Asn)
c.469C>A (p.His157Asn)
c.214C>A (p.His72Asn)
c.331C>A (p.His111Asn)
 dbSNP
2g.27097551C=CA1240115338KHKc.466C= (p.His156=)
c.601C= (p.His201=)
n.392C=
n.536C=
n.814C=
c.604C= (p.His202=)
c.469C= (p.His157=)
c.214C= (p.His72=)
c.331C= (p.His111=)
2g.27097551C>GCA346162450KHKc.466C>G (p.His156Asp)
c.601C>G (p.His201Asp)
n.392C>G
n.536C>G
n.814C>G
c.604C>G (p.His202Asp)
c.469C>G (p.His157Asp)
c.214C>G (p.His72Asp)
c.331C>G (p.His111Asp)
2g.27097551C>TCA346162452KHKc.466C>T (p.His156Tyr)
c.601C>T (p.His201Tyr)
n.392C>T
n.536C>T
n.814C>T
c.604C>T (p.His202Tyr)
c.469C>T (p.His157Tyr)
c.214C>T (p.His72Tyr)
c.331C>T (p.His111Tyr)
2g.27097551_27097554delinsCACACA1240115337KHKc.466_469delinsCACA (p.His156=)
c.601_604delinsCACA (p.His201=)
n.392_395delinsCACA
n.536_539delinsCACA
n.814_817delinsCACA
c.604_607delinsCACA (p.His202=)
c.469_472delinsCACA (p.His157=)
c.214_217delinsCACA (p.His72=)
c.331_334delinsCACA (p.His111=)
2g.27097552A=CA1240115339KHKc.467A= (p.His156=)
c.602A= (p.His201=)
n.393A=
n.537A=
n.815A=
c.605A= (p.His202=)
c.470A= (p.His157=)
c.215A= (p.His72=)
c.332A= (p.His111=)
2g.27097552A>CCA346162455KHKc.467A>C (p.His156Pro)
c.602A>C (p.His201Pro)
n.393A>C
n.537A>C
n.815A>C
c.605A>C (p.His202Pro)
c.470A>C (p.His157Pro)
c.215A>C (p.His72Pro)
c.332A>C (p.His111Pro)
2g.27097552A>GCA346162459KHKc.467A>G (p.His156Arg)
c.602A>G (p.His201Arg)
n.393A>G
n.537A>G
n.815A>G
c.605A>G (p.His202Arg)
c.470A>G (p.His157Arg)
c.215A>G (p.His72Arg)
c.332A>G (p.His111Arg)
 gnomAD v4
2g.27097552A>TCA1569307KHKc.467A>T (p.His156Leu)
c.602A>T (p.His201Leu)
n.393A>T
n.537A>T
n.815A>T
c.605A>T (p.His202Leu)
c.470A>T (p.His157Leu)
c.215A>T (p.His72Leu)
c.332A>T (p.His111Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27097555_27097557delCA1569306KHKc.470_472del (p.Asn157del)
c.605_607del (p.Asn202del)
n.396_398del
n.540_542del
n.818_820del
c.608_610del (p.Asn203del)
c.473_475del (p.Asn158del)
c.218_220del (p.Asn73del)
c.335_337del (p.Asn112del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27097553C>ACA346162462KHKc.468C>A (p.His156Gln)
c.603C>A (p.His201Gln)
n.394C>A
n.538C>A
n.816C>A
c.606C>A (p.His202Gln)
c.471C>A (p.His157Gln)
c.216C>A (p.His72Gln)
c.333C>A (p.His111Gln)
2g.27097553C>GCA346162464KHKc.468C>G (p.His156Gln)
c.603C>G (p.His201Gln)
n.394C>G
n.538C>G
n.816C>G
c.606C>G (p.His202Gln)
c.471C>G (p.His157Gln)
c.216C>G (p.His72Gln)
c.333C>G (p.His111Gln)
 gnomAD v4
2g.27097553C>TCA425384365KHKc.468C>T (p.His156=)
c.603C>T (p.His201=)
n.394C>T
n.538C>T
n.816C>T
c.606C>T (p.His202=)
c.471C>T (p.His157=)
c.216C>T (p.His72=)
c.333C>T (p.His111=)
 gnomAD v4
2g.27097554A>CCA346162467KHKc.469A>C (p.Asn157His)
c.604A>C (p.Asn202His)
n.395A>C
n.539A>C
n.817A>C
c.607A>C (p.Asn203His)
c.472A>C (p.Asn158His)
c.217A>C (p.Asn73His)
c.334A>C (p.Asn112His)
 gnomAD v4
2g.27097554A>GCA346162468KHKc.469A>G (p.Asn157Asp)
c.604A>G (p.Asn202Asp)
n.395A>G
n.539A>G
n.817A>G
c.607A>G (p.Asn203Asp)
c.472A>G (p.Asn158Asp)
c.217A>G (p.Asn73Asp)
c.334A>G (p.Asn112Asp)
2g.27097554A>TCA346162471KHKc.469A>T (p.Asn157Tyr)
c.604A>T (p.Asn202Tyr)
n.395A>T
n.539A>T
n.817A>T
c.607A>T (p.Asn203Tyr)
c.472A>T (p.Asn158Tyr)
c.217A>T (p.Asn73Tyr)
c.334A>T (p.Asn112Tyr)
2g.27097555A=CA1240115340KHKc.470A= (p.Asn157=)
c.605A= (p.Asn202=)
n.396A=
n.540A=
n.818A=
c.608A= (p.Asn203=)
c.473A= (p.Asn158=)
c.218A= (p.Asn73=)
c.335A= (p.Asn112=)
2g.27097555A>CCA1569308KHKc.470A>C (p.Asn157Thr)
c.605A>C (p.Asn202Thr)
n.396A>C
n.540A>C
n.818A>C
c.608A>C (p.Asn203Thr)
c.473A>C (p.Asn158Thr)
c.218A>C (p.Asn73Thr)
c.335A>C (p.Asn112Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27097555A>GCA346162474KHKc.470A>G (p.Asn157Ser)
c.605A>G (p.Asn202Ser)
n.396A>G
n.540A>G
n.818A>G
c.608A>G (p.Asn203Ser)
c.473A>G (p.Asn158Ser)
c.218A>G (p.Asn73Ser)
c.335A>G (p.Asn112Ser)
 gnomAD v4
2g.27097555A>TCA346162475KHKc.470A>T (p.Asn157Ile)
c.605A>T (p.Asn202Ile)
n.396A>T
n.540A>T
n.818A>T
c.608A>T (p.Asn203Ile)
c.473A>T (p.Asn158Ile)
c.218A>T (p.Asn73Ile)
c.335A>T (p.Asn112Ile)
2g.27097556C>ACA346162478KHKc.471C>A (p.Asn157Lys)
c.606C>A (p.Asn202Lys)
n.397C>A
n.541C>A
n.819C>A
c.609C>A (p.Asn203Lys)
c.474C>A (p.Asn158Lys)
c.219C>A (p.Asn73Lys)
c.336C>A (p.Asn112Lys)
2g.27097556C>GCA346162480KHKc.471C>G (p.Asn157Lys)
c.606C>G (p.Asn202Lys)
n.397C>G
n.541C>G
n.819C>G
c.609C>G (p.Asn203Lys)
c.474C>G (p.Asn158Lys)
c.219C>G (p.Asn73Lys)
c.336C>G (p.Asn112Lys)
2g.27097556C>TCA425384367KHKc.471C>T (p.Asn157=)
c.606C>T (p.Asn202=)
n.397C>T
n.541C>T
n.819C>T
c.609C>T (p.Asn203=)
c.474C>T (p.Asn158=)
c.219C>T (p.Asn73=)
c.336C>T (p.Asn112=)
2g.27097557A=CA1240115341KHKc.472A= (p.Thr158=)
c.607A= (p.Thr203=)
n.398A=
n.542A=
n.820A=
c.610A= (p.Thr204=)
c.475A= (p.Thr159=)
c.220A= (p.Thr74=)
c.337A= (p.Thr113=)
2g.27097557A>CCA346162484KHKc.472A>C (p.Thr158Pro)
c.607A>C (p.Thr203Pro)
n.398A>C
n.542A>C
n.820A>C
c.610A>C (p.Thr204Pro)
c.475A>C (p.Thr159Pro)
c.220A>C (p.Thr74Pro)
c.337A>C (p.Thr113Pro)
 dbSNP
2g.27097557A>GCA346162485KHKc.472A>G (p.Thr158Ala)
c.607A>G (p.Thr203Ala)
n.398A>G
n.542A>G
n.820A>G
c.610A>G (p.Thr204Ala)
c.475A>G (p.Thr159Ala)
c.220A>G (p.Thr74Ala)
c.337A>G (p.Thr113Ala)
 gnomAD v4
2g.27097557A>TCA346162488KHKc.472A>T (p.Thr158Ser)
c.607A>T (p.Thr203Ser)
n.398A>T
n.542A>T
n.820A>T
c.610A>T (p.Thr204Ser)
c.475A>T (p.Thr159Ser)
c.220A>T (p.Thr74Ser)
c.337A>T (p.Thr113Ser)
2g.27097558C>ACA1569309KHKc.473C>A (p.Thr158Asn)
c.608C>A (p.Thr203Asn)
n.399C>A
n.543C>A
n.821C>A
c.611C>A (p.Thr204Asn)
c.476C>A (p.Thr159Asn)
c.221C>A (p.Thr74Asn)
c.338C>A (p.Thr113Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27097558C=CA1240115342KHKc.473C= (p.Thr158=)
c.608C= (p.Thr203=)
n.399C=
n.543C=
n.821C=
c.611C= (p.Thr204=)
c.476C= (p.Thr159=)
c.221C= (p.Thr74=)
c.338C= (p.Thr113=)
2g.27097558C>GCA346162495KHKc.473C>G (p.Thr158Ser)
c.608C>G (p.Thr203Ser)
n.399C>G
n.543C>G
n.821C>G
c.611C>G (p.Thr204Ser)
c.476C>G (p.Thr159Ser)
c.221C>G (p.Thr74Ser)
c.338C>G (p.Thr113Ser)
2g.27097558C>TCA346162493KHKc.473C>T (p.Thr158Ile)
c.608C>T (p.Thr203Ile)
n.399C>T
n.543C>T
n.821C>T
c.611C>T (p.Thr204Ile)
c.476C>T (p.Thr159Ile)
c.221C>T (p.Thr74Ile)
c.338C>T (p.Thr113Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.27097559C>ACA425384372KHKc.474C>A (p.Thr158=)
c.609C>A (p.Thr203=)
n.400C>A
n.544C>A
n.822C>A
c.612C>A (p.Thr204=)
c.477C>A (p.Thr159=)
c.222C>A (p.Thr74=)
c.339C>A (p.Thr113=)
2g.27097559C>GCA425384371KHKc.474C>G (p.Thr158=)
c.609C>G (p.Thr203=)
n.400C>G
n.544C>G
n.822C>G
c.612C>G (p.Thr204=)
c.477C>G (p.Thr159=)
c.222C>G (p.Thr74=)
c.339C>G (p.Thr113=)
2g.27097559C>TCA425384369KHKc.474C>T (p.Thr158=)
c.609C>T (p.Thr203=)
n.400C>T
n.544C>T
n.822C>T
c.612C>T (p.Thr204=)
c.477C>T (p.Thr159=)
c.222C>T (p.Thr74=)
c.339C>T (p.Thr113=)
 gnomAD v4
2g.27097560A>CCA425384373KHKc.475A>C (p.Arg159=)
c.610A>C (p.Arg204=)
n.401A>C
n.545A>C
n.823A>C
c.613A>C (p.Arg205=)
c.478A>C (p.Arg160=)
c.223A>C (p.Arg75=)
c.340A>C (p.Arg114=)
2g.27097560A>GCA346162497KHKc.475A>G (p.Arg159Gly)
c.610A>G (p.Arg204Gly)
n.401A>G
n.545A>G
n.823A>G
c.613A>G (p.Arg205Gly)
c.478A>G (p.Arg160Gly)
c.223A>G (p.Arg75Gly)
c.340A>G (p.Arg114Gly)
 COSMIC COSMIC
2g.27097560A>TCA346162499KHKc.475A>T (p.Arg159Trp)
c.610A>T (p.Arg204Trp)
n.401A>T
n.545A>T
n.823A>T
c.613A>T (p.Arg205Trp)
c.478A>T (p.Arg160Trp)
c.223A>T (p.Arg75Trp)
c.340A>T (p.Arg114Trp)
2g.27097561G>ACA1569310KHKc.476G>A (p.Arg159Lys)
c.611G>A (p.Arg204Lys)
n.402G>A
n.546G>A
n.824G>A
c.614G>A (p.Arg205Lys)
c.479G>A (p.Arg160Lys)
c.224G>A (p.Arg75Lys)
c.341G>A (p.Arg114Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27097561G>CCA346162501KHKc.476G>C (p.Arg159Thr)
c.611G>C (p.Arg204Thr)
n.402G>C
n.546G>C
n.824G>C
c.614G>C (p.Arg205Thr)
c.479G>C (p.Arg160Thr)
c.224G>C (p.Arg75Thr)
c.341G>C (p.Arg114Thr)
 gnomAD v4
2g.27097561G=CA1240115343KHKc.476G= (p.Arg159=)
c.611G= (p.Arg204=)
n.402G=
n.546G=
n.824G=
c.614G= (p.Arg205=)
c.479G= (p.Arg160=)
c.224G= (p.Arg75=)
c.341G= (p.Arg114=)
2g.27097561G>TCA346162504KHKc.476G>T (p.Arg159Met)
c.611G>T (p.Arg204Met)
n.402G>T
n.546G>T
n.824G>T
c.614G>T (p.Arg205Met)
c.479G>T (p.Arg160Met)
c.224G>T (p.Arg75Met)
c.341G>T (p.Arg114Met)
2g.27097562G>ACA425384377KHKc.477G>A (p.Arg159=)
c.612G>A (p.Arg204=)
n.403G>A
n.547G>A
n.825G>A
c.615G>A (p.Arg205=)
c.480G>A (p.Arg160=)
c.225G>A (p.Arg75=)
c.342G>A (p.Arg114=)
 dbSNP gnomAD v4
2g.27097562G>CCA346162506KHKc.477G>C (p.Arg159Ser)
c.612G>C (p.Arg204Ser)
n.403G>C
n.547G>C
n.825G>C
c.615G>C (p.Arg205Ser)
c.480G>C (p.Arg160Ser)
c.225G>C (p.Arg75Ser)
c.342G>C (p.Arg114Ser)
2g.27097562G=CA1240115344KHKc.477G= (p.Arg159=)
c.612G= (p.Arg204=)
n.403G=
n.547G=
n.825G=
c.615G= (p.Arg205=)
c.480G= (p.Arg160=)
c.225G= (p.Arg75=)
c.342G= (p.Arg114=)
2g.27097562G>TCA346162509KHKc.477G>T (p.Arg159Ser)
c.612G>T (p.Arg204Ser)
n.403G>T
n.547G>T
n.825G>T
c.615G>T (p.Arg205Ser)
c.480G>T (p.Arg160Ser)
c.225G>T (p.Arg75Ser)
c.342G>T (p.Arg114Ser)
2g.27097563C>ACA346162511KHKc.478C>A (p.Gln160Lys)
c.613C>A (p.Gln205Lys)
n.404C>A
n.548C>A
n.826C>A
c.616C>A (p.Gln206Lys)
c.481C>A (p.Gln161Lys)
c.226C>A (p.Gln76Lys)
c.343C>A (p.Gln115Lys)
2g.27097563C>GCA346162513KHKc.478C>G (p.Gln160Glu)
c.613C>G (p.Gln205Glu)
n.404C>G
n.548C>G
n.826C>G
c.616C>G (p.Gln206Glu)
c.481C>G (p.Gln161Glu)
c.226C>G (p.Gln76Glu)
c.343C>G (p.Gln115Glu)
 gnomAD v4
2g.27097563C>TCA346162515KHKc.478C>T (p.Gln160Ter)
c.613C>T (p.Gln205Ter)
n.404C>T
n.548C>T
n.826C>T
c.616C>T (p.Gln206Ter)
c.481C>T (p.Gln161Ter)
c.226C>T (p.Gln76Ter)
c.343C>T (p.Gln115Ter)
2g.27097564A>CCA346162517KHKc.479A>C (p.Gln160Pro)
c.614A>C (p.Gln205Pro)
n.405A>C
n.549A>C
n.827A>C
c.617A>C (p.Gln206Pro)
c.482A>C (p.Gln161Pro)
c.227A>C (p.Gln76Pro)
c.344A>C (p.Gln115Pro)
2g.27097564A>GCA346162520KHKc.479A>G (p.Gln160Arg)
c.614A>G (p.Gln205Arg)
n.405A>G
n.549A>G
n.827A>G
c.617A>G (p.Gln206Arg)
c.482A>G (p.Gln161Arg)
c.227A>G (p.Gln76Arg)
c.344A>G (p.Gln115Arg)
2g.27097564A>TCA346162518KHKc.479A>T (p.Gln160Leu)
c.614A>T (p.Gln205Leu)
n.405A>T
n.549A>T
n.827A>T
c.617A>T (p.Gln206Leu)
c.482A>T (p.Gln161Leu)
c.227A>T (p.Gln76Leu)
c.344A>T (p.Gln115Leu)
2g.27097565G>ACA425384381KHKc.480G>A (p.Gln160=)
c.615G>A (p.Gln205=)
n.406G>A
n.550G>A
n.828G>A
c.618G>A (p.Gln206=)
c.483G>A (p.Gln161=)
c.228G>A (p.Gln76=)
c.345G>A (p.Gln115=)
2g.27097565G>CCA346162523KHKc.480G>C (p.Gln160His)
c.615G>C (p.Gln205His)
n.406G>C
n.550G>C
n.828G>C
c.618G>C (p.Gln206His)
c.483G>C (p.Gln161His)
c.228G>C (p.Gln76His)
c.345G>C (p.Gln115His)
 gnomAD v4
2g.27097565G>TCA346162526KHKc.480G>T (p.Gln160His)
c.615G>T (p.Gln205His)
n.406G>T
n.550G>T
n.828G>T
c.618G>T (p.Gln206His)
c.483G>T (p.Gln161His)
c.228G>T (p.Gln76His)
c.345G>T (p.Gln115His)
2g.27097566C>ACA346162528KHKc.481C>A (p.Pro161Thr)
c.616C>A (p.Pro206Thr)
n.407C>A
n.551C>A
n.829C>A
c.619C>A (p.Pro207Thr)
c.484C>A (p.Pro162Thr)
c.229C>A (p.Pro77Thr)
c.346C>A (p.Pro116Thr)
2g.27097566C>GCA346162530KHKc.481C>G (p.Pro161Ala)
c.616C>G (p.Pro206Ala)
n.407C>G
n.551C>G
n.829C>G
c.619C>G (p.Pro207Ala)
c.484C>G (p.Pro162Ala)
c.229C>G (p.Pro77Ala)
c.346C>G (p.Pro116Ala)
2g.27097566C>TCA346162532KHKc.481C>T (p.Pro161Ser)
c.616C>T (p.Pro206Ser)
n.407C>T
n.551C>T
n.829C>T
c.619C>T (p.Pro207Ser)
c.484C>T (p.Pro162Ser)
c.229C>T (p.Pro77Ser)
c.346C>T (p.Pro116Ser)
2g.27097567C>ACA346162534KHKc.482C>A (p.Pro161His)
c.617C>A (p.Pro206His)
n.408C>A
n.552C>A
n.830C>A
c.620C>A (p.Pro207His)
c.485C>A (p.Pro162His)
c.230C>A (p.Pro77His)
c.347C>A (p.Pro116His)
2g.27097567C>GCA346162535KHKc.482C>G (p.Pro161Arg)
c.617C>G (p.Pro206Arg)
n.408C>G
n.552C>G
n.830C>G
c.620C>G (p.Pro207Arg)
c.485C>G (p.Pro162Arg)
c.230C>G (p.Pro77Arg)
c.347C>G (p.Pro116Arg)
2g.27097567C>TCA346162537KHKc.482C>T (p.Pro161Leu)
c.617C>T (p.Pro206Leu)
n.408C>T
n.552C>T
n.830C>T
c.620C>T (p.Pro207Leu)
c.485C>T (p.Pro162Leu)
c.230C>T (p.Pro77Leu)
c.347C>T (p.Pro116Leu)
2g.27097568T>ACA425384384KHKc.483T>A (p.Pro161=)
c.618T>A (p.Pro206=)
n.409T>A
n.553T>A
n.831T>A
c.621T>A (p.Pro207=)
c.486T>A (p.Pro162=)
c.231T>A (p.Pro77=)
c.348T>A (p.Pro116=)
2g.27097568T>CCA425384385KHKc.483T>C (p.Pro161=)
c.618T>C (p.Pro206=)
n.409T>C
n.553T>C
n.831T>C
c.621T>C (p.Pro207=)
c.486T>C (p.Pro162=)
c.231T>C (p.Pro77=)
c.348T>C (p.Pro116=)
2g.27097568T>GCA425384386KHKc.483T>G (p.Pro161=)
c.618T>G (p.Pro206=)
n.409T>G
n.553T>G
n.831T>G
c.621T>G (p.Pro207=)
c.486T>G (p.Pro162=)
c.231T>G (p.Pro77=)
c.348T>G (p.Pro116=)
2g.27097569C>ACA346162539KHKc.484C>A (p.Pro162Thr)
c.619C>A (p.Pro207Thr)
n.410C>A
n.832C>A
c.622C>A (p.Pro208Thr)
c.487C>A (p.Pro163Thr)
c.232C>A (p.Pro78Thr)
c.349C>A (p.Pro117Thr)
2g.27097569C>GCA346162540KHKc.484C>G (p.Pro162Ala)
c.619C>G (p.Pro207Ala)
n.410C>G
n.832C>G
c.622C>G (p.Pro208Ala)
c.487C>G (p.Pro163Ala)
c.232C>G (p.Pro78Ala)
c.349C>G (p.Pro117Ala)
2g.27097569C>TCA346162542KHKc.484C>T (p.Pro162Ser)
c.619C>T (p.Pro207Ser)
n.410C>T
n.832C>T
c.622C>T (p.Pro208Ser)
c.487C>T (p.Pro163Ser)
c.232C>T (p.Pro78Ser)
c.349C>T (p.Pro117Ser)
2g.27097570C>ACA346162543KHKc.485C>A (p.Pro162Gln)
c.620C>A (p.Pro207Gln)
n.411C>A
n.833C>A
c.623C>A (p.Pro208Gln)
c.488C>A (p.Pro163Gln)
c.233C>A (p.Pro78Gln)
c.350C>A (p.Pro117Gln)
2g.27097570C>GCA346162545KHKc.485C>G (p.Pro162Arg)
c.620C>G (p.Pro207Arg)
n.411C>G
n.833C>G
c.623C>G (p.Pro208Arg)
c.488C>G (p.Pro163Arg)
c.233C>G (p.Pro78Arg)
c.350C>G (p.Pro117Arg)
2g.27097570C>TCA346162547KHKc.485C>T (p.Pro162Leu)
c.620C>T (p.Pro207Leu)
n.411C>T
n.833C>T
c.623C>T (p.Pro208Leu)
c.488C>T (p.Pro163Leu)
c.233C>T (p.Pro78Leu)
c.350C>T (p.Pro117Leu)
 COSMIC COSMIC
2g.27097571A>CCA425384390KHKc.486A>C (p.Pro162=)
c.621A>C (p.Pro207=)
n.412A>C
n.834A>C
c.624A>C (p.Pro208=)
c.489A>C (p.Pro163=)
c.234A>C (p.Pro78=)
c.351A>C (p.Pro117=)
2g.27097571A>GCA425384391KHKc.486A>G (p.Pro162=)
c.621A>G (p.Pro207=)
n.412A>G
n.834A>G
c.624A>G (p.Pro208=)
c.489A>G (p.Pro163=)
c.234A>G (p.Pro78=)
c.351A>G (p.Pro117=)
2g.27097571A>TCA425384392KHKc.486A>T (p.Pro162=)
c.621A>T (p.Pro207=)
n.412A>T
n.834A>T
c.624A>T (p.Pro208=)
c.489A>T (p.Pro163=)
c.234A>T (p.Pro78=)
c.351A>T (p.Pro117=)
2g.27097572G>ACA346162551KHKc.487G>A (p.Glu163Lys)
c.622G>A (p.Glu208Lys)
n.413G>A
n.835G>A
c.625G>A (p.Glu209Lys)
c.490G>A (p.Glu164Lys)
c.235G>A (p.Glu79Lys)
c.352G>A (p.Glu118Lys)
2g.27097572G>CCA346162548KHKc.487G>C (p.Glu163Gln)
c.622G>C (p.Glu208Gln)
n.413G>C
n.835G>C
c.625G>C (p.Glu209Gln)
c.490G>C (p.Glu164Gln)
c.235G>C (p.Glu79Gln)
c.352G>C (p.Glu118Gln)
2g.27097572G>TCA346162549KHKc.487G>T (p.Glu163Ter)
c.622G>T (p.Glu208Ter)
n.413G>T
n.835G>T
c.625G>T (p.Glu209Ter)
c.490G>T (p.Glu164Ter)
c.235G>T (p.Glu79Ter)
c.352G>T (p.Glu118Ter)
2g.27097573A=CA1240115345KHKc.488A= (p.Glu163=)
c.623A= (p.Glu208=)
n.414A=
n.836A=
c.626A= (p.Glu209=)
c.491A= (p.Glu164=)
c.236A= (p.Glu79=)
c.353A= (p.Glu118=)
2g.27097573A>CCA346162553KHKc.488A>C (p.Glu163Ala)
c.623A>C (p.Glu208Ala)
n.414A>C
n.836A>C
c.626A>C (p.Glu209Ala)
c.491A>C (p.Glu164Ala)
c.236A>C (p.Glu79Ala)
c.353A>C (p.Glu118Ala)
2g.27097573A>GCA346162555KHKc.488A>G (p.Glu163Gly)
c.623A>G (p.Glu208Gly)
n.414A>G
n.836A>G
c.626A>G (p.Glu209Gly)
c.491A>G (p.Glu164Gly)
c.236A>G (p.Glu79Gly)
c.353A>G (p.Glu118Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27097573A>TCA346162557KHKc.488A>T (p.Glu163Val)
c.623A>T (p.Glu208Val)
n.414A>T
n.836A>T
c.626A>T (p.Glu209Val)
c.491A>T (p.Glu164Val)
c.236A>T (p.Glu79Val)
c.353A>T (p.Glu118Val)
2g.27097574G>ACA425384396KHKc.489G>A (p.Glu163=)
c.624G>A (p.Glu208=)
n.415G>A
n.837G>A
c.627G>A (p.Glu209=)
c.492G>A (p.Glu164=)
c.237G>A (p.Glu79=)
c.354G>A (p.Glu118=)
2g.27097574G>CCA346162559KHKc.489G>C (p.Glu163Asp)
c.624G>C (p.Glu208Asp)
n.415G>C
n.837G>C
c.627G>C (p.Glu209Asp)
c.492G>C (p.Glu164Asp)
c.237G>C (p.Glu79Asp)
c.354G>C (p.Glu118Asp)
2g.27097574G>TCA346162562KHKc.489G>T (p.Glu163Asp)
c.624G>T (p.Glu208Asp)
n.415G>T
n.837G>T
c.627G>T (p.Glu209Asp)
c.492G>T (p.Glu164Asp)
c.237G>T (p.Glu79Asp)
c.354G>T (p.Glu118Asp)
2g.27097575C>ACA1569311KHKc.490C>A (p.Gln164Lys)
c.625C>A (p.Gln209Lys)
n.416C>A
n.838C>A
c.628C>A (p.Gln210Lys)
c.493C>A (p.Gln165Lys)
c.238C>A (p.Gln80Lys)
c.355C>A (p.Gln119Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27097575C=CA1240115346KHKc.490C= (p.Gln164=)
c.625C= (p.Gln209=)
n.416C=
n.838C=
c.628C= (p.Gln210=)
c.493C= (p.Gln165=)
c.238C= (p.Gln80=)
c.355C= (p.Gln119=)
2g.27097575C>GCA346162564KHKc.490C>G (p.Gln164Glu)
c.625C>G (p.Gln209Glu)
n.416C>G
n.838C>G
c.628C>G (p.Gln210Glu)
c.493C>G (p.Gln165Glu)
c.238C>G (p.Gln80Glu)
c.355C>G (p.Gln119Glu)
2g.27097575C>TCA346162567KHKc.490C>T (p.Gln164Ter)
c.625C>T (p.Gln209Ter)
n.416C>T
n.838C>T
c.628C>T (p.Gln210Ter)
c.493C>T (p.Gln165Ter)
c.238C>T (p.Gln80Ter)
c.355C>T (p.Gln119Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27097575_27097578delinsCAGACA1240115347KHKc.490_493delinsCAGA (p.Gln164=)
c.625_628delinsCAGA (p.Gln209=)
n.416_419delinsCAGA
n.838_841delinsCAGA
c.628_631delinsCAGA (p.Gln210=)
c.493_496delinsCAGA (p.Gln165=)
c.238_241delinsCAGA (p.Gln80=)
c.355_358delinsCAGA (p.Gln119=)
2g.27097576A>CCA346162569KHKc.491A>C (p.Gln164Pro)
c.626A>C (p.Gln209Pro)
n.417A>C
n.839A>C
c.629A>C (p.Gln210Pro)
c.494A>C (p.Gln165Pro)
c.239A>C (p.Gln80Pro)
c.356A>C (p.Gln119Pro)
2g.27097576A>GCA346162571KHKc.491A>G (p.Gln164Arg)
c.626A>G (p.Gln209Arg)
n.417A>G
n.839A>G
c.629A>G (p.Gln210Arg)
c.494A>G (p.Gln165Arg)
c.239A>G (p.Gln80Arg)
c.356A>G (p.Gln119Arg)
2g.27097576A>TCA346162573KHKc.491A>T (p.Gln164Leu)
c.626A>T (p.Gln209Leu)
n.417A>T
n.839A>T
c.629A>T (p.Gln210Leu)
c.494A>T (p.Gln165Leu)
c.239A>T (p.Gln80Leu)
c.356A>T (p.Gln119Leu)
2g.27097579_27097581delCA767302305KHKc.494_496del (p.Lys165del)
c.629_631del (p.Lys210del)
n.420_422del
n.842_844del
c.632_634del (p.Lys211del)
c.497_499del (p.Lys166del)
c.242_244del (p.Lys81del)
c.359_361del (p.Lys120del)
 dbSNP gnomAD v3 gnomAD v4
2g.27097577G>ACA425384398KHKc.492G>A (p.Gln164=)
c.627G>A (p.Gln209=)
n.418G>A
n.840G>A
c.630G>A (p.Gln210=)
c.495G>A (p.Gln165=)
c.240G>A (p.Gln80=)
c.357G>A (p.Gln119=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27097577G>CCA1569312KHKc.492G>C (p.Gln164His)
c.627G>C (p.Gln209His)
n.418G>C
n.840G>C
c.630G>C (p.Gln210His)
c.495G>C (p.Gln165His)
c.240G>C (p.Gln80His)
c.357G>C (p.Gln119His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27097577G=CA1240115348KHKc.492G= (p.Gln164=)
c.627G= (p.Gln209=)
n.418G=
n.840G=
c.630G= (p.Gln210=)
c.495G= (p.Gln165=)
c.240G= (p.Gln80=)
c.357G= (p.Gln119=)
2g.27097577G>TCA346162580KHKc.492G>T (p.Gln164His)
c.627G>T (p.Gln209His)
n.418G>T
n.840G>T
c.630G>T (p.Gln210His)
c.495G>T (p.Gln165His)
c.240G>T (p.Gln80His)
c.357G>T (p.Gln119His)
2g.27097578A=CA1240115349KHKc.493A= (p.Lys165=)
c.628A= (p.Lys210=)
n.419A=
n.841A=
c.631A= (p.Lys211=)
c.496A= (p.Lys166=)
c.241A= (p.Lys81=)
c.358A= (p.Lys120=)
2g.27097578A>CCA346162582KHKc.493A>C (p.Lys165Gln)
c.628A>C (p.Lys210Gln)
n.419A>C
n.841A>C
c.631A>C (p.Lys211Gln)
c.496A>C (p.Lys166Gln)
c.241A>C (p.Lys81Gln)
c.358A>C (p.Lys120Gln)
2g.27097578A>GCA346162584KHKc.493A>G (p.Lys165Glu)
c.628A>G (p.Lys210Glu)
n.419A>G
n.841A>G
c.631A>G (p.Lys211Glu)
c.496A>G (p.Lys166Glu)
c.241A>G (p.Lys81Glu)
c.358A>G (p.Lys120Glu)
 dbSNP
2g.27097578A>TCA346162585KHKc.493A>T (p.Lys165Ter)
c.628A>T (p.Lys210Ter)
n.419A>T
n.841A>T
c.631A>T (p.Lys211Ter)
c.496A>T (p.Lys166Ter)
c.241A>T (p.Lys81Ter)
c.358A>T (p.Lys120Ter)
2g.27097579A=CA1240115350KHKc.494A= (p.Lys165=)
c.629A= (p.Lys210=)
n.420A=
n.842A=
c.632A= (p.Lys211=)
c.497A= (p.Lys166=)
c.242A= (p.Lys81=)
c.359A= (p.Lys120=)
2g.27097579A>CCA346162587KHKc.494A>C (p.Lys165Thr)
c.629A>C (p.Lys210Thr)
n.420A>C
n.842A>C
c.632A>C (p.Lys211Thr)
c.497A>C (p.Lys166Thr)
c.242A>C (p.Lys81Thr)
c.359A>C (p.Lys120Thr)
 dbSNP gnomAD v2
2g.27097579A>GCA346162588KHKc.494A>G (p.Lys165Arg)
c.629A>G (p.Lys210Arg)
n.420A>G
n.842A>G
c.632A>G (p.Lys211Arg)
c.497A>G (p.Lys166Arg)
c.242A>G (p.Lys81Arg)
c.359A>G (p.Lys120Arg)
2g.27097579A>TCA346162591KHKc.494A>T (p.Lys165Met)
c.629A>T (p.Lys210Met)
n.420A>T
n.842A>T
c.632A>T (p.Lys211Met)
c.497A>T (p.Lys166Met)
c.242A>T (p.Lys81Met)
c.359A>T (p.Lys120Met)
2g.27097580G>ACA1569313KHKc.495G>A (p.Lys165=)
c.630G>A (p.Lys210=)
n.421G>A
n.843G>A
c.633G>A (p.Lys211=)
c.498G>A (p.Lys166=)
c.243G>A (p.Lys81=)
c.360G>A (p.Lys120=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27097580G>CCA346162596KHKc.495G>C (p.Lys165Asn)
c.630G>C (p.Lys210Asn)
n.421G>C
n.843G>C
c.633G>C (p.Lys211Asn)
c.498G>C (p.Lys166Asn)
c.243G>C (p.Lys81Asn)
c.360G>C (p.Lys120Asn)
 COSMIC COSMIC
2g.27097580G=CA1240115351KHKc.495G= (p.Lys165=)
c.630G= (p.Lys210=)
n.421G=
n.843G=
c.633G= (p.Lys211=)
c.498G= (p.Lys166=)
c.243G= (p.Lys81=)
c.360G= (p.Lys120=)
2g.27097580G>TCA346162598KHKc.495G>T (p.Lys165Asn)
c.630G>T (p.Lys210Asn)
n.421G>T
n.843G>T
c.633G>T (p.Lys211Asn)
c.498G>T (p.Lys166Asn)
c.243G>T (p.Lys81Asn)
c.360G>T (p.Lys120Asn)
2g.27097581A>CCA346162600KHKc.496A>C (p.Ile166Leu)
c.631A>C (p.Ile211Leu)
n.422A>C
n.844A>C
c.634A>C (p.Ile212Leu)
c.499A>C (p.Ile167Leu)
c.244A>C (p.Ile82Leu)
c.361A>C (p.Ile121Leu)
2g.27097581A>GCA346162601KHKc.496A>G (p.Ile166Val)
c.631A>G (p.Ile211Val)
n.422A>G
n.844A>G
c.634A>G (p.Ile212Val)
c.499A>G (p.Ile167Val)
c.244A>G (p.Ile82Val)
c.361A>G (p.Ile121Val)
2g.27097581A>TCA346162602KHKc.496A>T (p.Ile166Phe)
c.631A>T (p.Ile211Phe)
n.422A>T
n.844A>T
c.634A>T (p.Ile212Phe)
c.499A>T (p.Ile167Phe)
c.244A>T (p.Ile82Phe)
c.361A>T (p.Ile121Phe)
2g.27097582T>ACA346162609KHKc.497T>A (p.Ile166Asn)
c.632T>A (p.Ile211Asn)
n.423T>A
n.845T>A
c.635T>A (p.Ile212Asn)
c.500T>A (p.Ile167Asn)
c.245T>A (p.Ile82Asn)
c.362T>A (p.Ile121Asn)
2g.27097582T>CCA346162608KHKc.497T>C (p.Ile166Thr)
c.632T>C (p.Ile211Thr)
n.423T>C
n.845T>C
c.635T>C (p.Ile212Thr)
c.500T>C (p.Ile167Thr)
c.245T>C (p.Ile82Thr)
c.362T>C (p.Ile121Thr)
2g.27097582T>GCA346162605KHKc.497T>G (p.Ile166Ser)
c.632T>G (p.Ile211Ser)
n.423T>G
n.845T>G
c.635T>G (p.Ile212Ser)
c.500T>G (p.Ile167Ser)
c.245T>G (p.Ile82Ser)
c.362T>G (p.Ile121Ser)
2g.27097583C>ACA425384401KHKc.498C>A (p.Ile166=)
c.633C>A (p.Ile211=)
n.424C>A
n.846C>A
c.636C>A (p.Ile212=)
c.501C>A (p.Ile167=)
c.246C>A (p.Ile82=)
c.363C>A (p.Ile121=)
2g.27097583C=CA1240115352KHKc.498C= (p.Ile166=)
c.633C= (p.Ile211=)
n.424C=
n.846C=
c.636C= (p.Ile212=)
c.501C= (p.Ile167=)
c.246C= (p.Ile82=)
c.363C= (p.Ile121=)
2g.27097583C>GCA346162610KHKc.498C>G (p.Ile166Met)
c.633C>G (p.Ile211Met)
n.424C>G
n.846C>G
c.636C>G (p.Ile212Met)
c.501C>G (p.Ile167Met)
c.246C>G (p.Ile82Met)
c.363C>G (p.Ile121Met)
2g.27097583C>TCA425384402KHKc.498C>T (p.Ile166=)
c.633C>T (p.Ile211=)
n.424C>T
n.846C>T
c.636C>T (p.Ile212=)
c.501C>T (p.Ile167=)
c.246C>T (p.Ile82=)
c.363C>T (p.Ile121=)
 dbSNP gnomAD v3 gnomAD v4
2g.27097584delCA425384403KHKc.499del (p.Arg167GlyfsTer?)
c.634del (p.Arg212GlyfsTer?)
n.425del
n.847del
c.637del (p.Arg213GlyfsTer?)
c.502del (p.Arg168GlyfsTer?)
c.247del (p.Arg83GlyfsTer?)
c.364del (p.Arg122GlyfsTer?)
 COSMIC COSMIC
2g.27097584C>ACA425384404KHKc.499C>A (p.Arg167=)
c.634C>A (p.Arg212=)
n.425C>A
n.847C>A
c.637C>A (p.Arg213=)
c.502C>A (p.Arg168=)
c.247C>A (p.Arg83=)
c.364C>A (p.Arg122=)
2g.27097584C=CA1240115353KHKc.499C= (p.Arg167=)
c.634C= (p.Arg212=)
n.425C=
n.847C=
c.637C= (p.Arg213=)
c.502C= (p.Arg168=)
c.247C= (p.Arg83=)
c.364C= (p.Arg122=)
2g.27097584C>GCA346162611KHKc.499C>G (p.Arg167Gly)
c.634C>G (p.Arg212Gly)
n.425C>G
n.847C>G
c.637C>G (p.Arg213Gly)
c.502C>G (p.Arg168Gly)
c.247C>G (p.Arg83Gly)
c.364C>G (p.Arg122Gly)
2g.27097584C>TCA10613031KHKc.499C>T (p.Arg167Trp)
c.634C>T (p.Arg212Trp)
n.425C>T
n.847C>T
c.637C>T (p.Arg213Trp)
c.502C>T (p.Arg168Trp)
c.247C>T (p.Arg83Trp)
c.364C>T (p.Arg122Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27097585G>ACA1569315KHKc.500G>A (p.Arg167Gln)
c.635G>A (p.Arg212Gln)
n.426G>A
n.848G>A
c.638G>A (p.Arg213Gln)
c.503G>A (p.Arg168Gln)
c.248G>A (p.Arg83Gln)
c.365G>A (p.Arg122Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27097585G>CCA346162622KHKc.500G>C (p.Arg167Pro)
c.635G>C (p.Arg212Pro)
n.426G>C
n.848G>C
c.638G>C (p.Arg213Pro)
c.503G>C (p.Arg168Pro)
c.248G>C (p.Arg83Pro)
c.365G>C (p.Arg122Pro)
 gnomAD v4
2g.27097585G=CA1240115354KHKc.500G= (p.Arg167=)
c.635G= (p.Arg212=)
n.426G=
n.848G=
c.638G= (p.Arg213=)
c.503G= (p.Arg168=)
c.248G= (p.Arg83=)
c.365G= (p.Arg122=)
2g.27097585G>TCA1569314KHKc.500G>T (p.Arg167Leu)
c.635G>T (p.Arg212Leu)
n.426G>T
n.848G>T
c.638G>T (p.Arg213Leu)
c.503G>T (p.Arg168Leu)
c.248G>T (p.Arg83Leu)
c.365G>T (p.Arg122Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27097586G>ACA425384408KHKc.501G>A (p.Arg167=)
c.636G>A (p.Arg212=)
n.427G>A
n.849G>A
c.639G>A (p.Arg213=)
c.504G>A (p.Arg168=)
c.249G>A (p.Arg83=)
c.366G>A (p.Arg122=)
 gnomAD v4
2g.27097586G>CCA425384409KHKc.501G>C (p.Arg167=)
c.636G>C (p.Arg212=)
n.427G>C
n.849G>C
c.639G>C (p.Arg213=)
c.504G>C (p.Arg168=)
c.249G>C (p.Arg83=)
c.366G>C (p.Arg122=)
2g.27097586G>TCA425384410KHKc.501G>T (p.Arg167=)
c.636G>T (p.Arg212=)
n.427G>T
n.849G>T
c.639G>T (p.Arg213=)
c.504G>T (p.Arg168=)
c.249G>T (p.Arg83=)
c.366G>T (p.Arg122=)
2g.27097587G>ACA346162627KHKc.502G>A (p.Val168Met)
c.637G>A (p.Val213Met)
n.428G>A
n.850G>A
c.640G>A (p.Val214Met)
c.505G>A (p.Val169Met)
c.250G>A (p.Val84Met)
c.367G>A (p.Val123Met)
2g.27097587G>CCA346162628KHKc.502G>C (p.Val168Leu)
c.637G>C (p.Val213Leu)
n.428G>C
n.850G>C
c.640G>C (p.Val214Leu)
c.505G>C (p.Val169Leu)
c.250G>C (p.Val84Leu)
c.367G>C (p.Val123Leu)
2g.27097587G=CA1240115355KHKc.502G= (p.Val168=)
c.637G= (p.Val213=)
n.428G=
n.850G=
c.640G= (p.Val214=)
c.505G= (p.Val169=)
c.250G= (p.Val84=)
c.367G= (p.Val123=)
2g.27097587G>TCA1569316KHKc.502G>T (p.Val168Leu)
c.637G>T (p.Val213Leu)
n.428G>T
n.850G>T
c.640G>T (p.Val214Leu)
c.505G>T (p.Val169Leu)
c.250G>T (p.Val84Leu)
c.367G>T (p.Val123Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27097588T>ACA346162632KHKc.503T>A (p.Val168Glu)
c.638T>A (p.Val213Glu)
n.429T>A
n.851T>A
c.641T>A (p.Val214Glu)
c.506T>A (p.Val169Glu)
c.251T>A (p.Val84Glu)
c.368T>A (p.Val123Glu)
2g.27097588T>CCA346162634KHKc.503T>C (p.Val168Ala)
c.638T>C (p.Val213Ala)
n.429T>C
n.851T>C
c.641T>C (p.Val214Ala)
c.506T>C (p.Val169Ala)
c.251T>C (p.Val84Ala)
c.368T>C (p.Val123Ala)
2g.27097588T>GCA1569317KHKc.503T>G (p.Val168Gly)
c.638T>G (p.Val213Gly)
n.429T>G
n.851T>G
c.641T>G (p.Val214Gly)
c.506T>G (p.Val169Gly)
c.251T>G (p.Val84Gly)
c.368T>G (p.Val123Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27097588T=CA1240115356KHKc.503T= (p.Val168=)
c.638T= (p.Val213=)
n.429T=
n.851T=
c.641T= (p.Val214=)
c.506T= (p.Val169=)
c.251T= (p.Val84=)
c.368T= (p.Val123=)
2g.27097589G>ACA425384411KHKc.504G>A (p.Val168=)
c.639G>A (p.Val213=)
n.430G>A
n.852G>A
c.642G>A (p.Val214=)
c.507G>A (p.Val169=)
c.252G>A (p.Val84=)
c.369G>A (p.Val123=)
2g.27097589G>CCA425384412KHKc.504G>C (p.Val168=)
c.639G>C (p.Val213=)
n.430G>C
n.852G>C
c.642G>C (p.Val214=)
c.507G>C (p.Val169=)
c.252G>C (p.Val84=)
c.369G>C (p.Val123=)
2g.27097589G>TCA425384413KHKc.504G>T (p.Val168=)
c.639G>T (p.Val213=)
n.430G>T
n.852G>T
c.642G>T (p.Val214=)
c.507G>T (p.Val169=)
c.252G>T (p.Val84=)
c.369G>T (p.Val123=)
2g.27097590T>ACA346162640KHKc.505T>A (p.Ser169Thr)
c.640T>A (p.Ser214Thr)
n.431T>A
n.853T>A
c.643T>A (p.Ser215Thr)
c.508T>A (p.Ser170Thr)
c.253T>A (p.Ser85Thr)
c.370T>A (p.Ser124Thr)
 gnomAD v4
2g.27097590T>CCA346162639KHKc.505T>C (p.Ser169Pro)
c.640T>C (p.Ser214Pro)
n.431T>C
n.853T>C
c.643T>C (p.Ser215Pro)
c.508T>C (p.Ser170Pro)
c.253T>C (p.Ser85Pro)
c.370T>C (p.Ser124Pro)
2g.27097590T>GCA346162636KHKc.505T>G (p.Ser169Ala)
c.640T>G (p.Ser214Ala)
n.431T>G
n.853T>G
c.643T>G (p.Ser215Ala)
c.508T>G (p.Ser170Ala)
c.253T>G (p.Ser85Ala)
c.370T>G (p.Ser124Ala)
2g.27097590_27097591delinsTCCA1240115357KHKc.505_506delinsTC (p.Ser169=)
c.640_641delinsTC (p.Ser214=)
n.431_432delinsTC
n.853_854delinsTC
c.643_644delinsTC (p.Ser215=)
c.508_509delinsTC (p.Ser170=)
c.253_254delinsTC (p.Ser85=)
c.370_371delinsTC (p.Ser124=)
2g.27097591C>ACA346162643KHKc.506C>A (p.Ser169Tyr)
c.641C>A (p.Ser214Tyr)
n.432C>A
n.854C>A
c.644C>A (p.Ser215Tyr)
c.509C>A (p.Ser170Tyr)
c.254C>A (p.Ser85Tyr)
c.371C>A (p.Ser124Tyr)
2g.27097591C>GCA346162646KHKc.506C>G (p.Ser169Cys)
c.641C>G (p.Ser214Cys)
n.432C>G
n.854C>G
c.644C>G (p.Ser215Cys)
c.509C>G (p.Ser170Cys)
c.254C>G (p.Ser85Cys)
c.371C>G (p.Ser124Cys)
2g.27097591C>TCA346162645KHKc.506C>T (p.Ser169Phe)
c.641C>T (p.Ser214Phe)
n.432C>T
n.854C>T
c.644C>T (p.Ser215Phe)
c.509C>T (p.Ser170Phe)
c.254C>T (p.Ser85Phe)
c.371C>T (p.Ser124Phe)
2g.27097592delCA1028658399KHKc.507del (p.Val170TrpfsTer?)
c.642del (p.Val215TrpfsTer?)
n.433del
n.855del
c.645del (p.Val216TrpfsTer?)
c.510del (p.Val171TrpfsTer?)
c.255del (p.Val86TrpfsTer?)
c.372del (p.Val125TrpfsTer?)
 dbSNP gnomAD v3 gnomAD v4
2g.27097592C>ACA425384415KHKc.507C>A (p.Ser169=)
c.642C>A (p.Ser214=)
n.433C>A
n.855C>A
c.645C>A (p.Ser215=)
c.510C>A (p.Ser170=)
c.255C>A (p.Ser85=)
c.372C>A (p.Ser124=)
2g.27097592C=CA1240115358KHKc.507C= (p.Ser169=)
c.642C= (p.Ser214=)
n.433C=
n.855C=
c.645C= (p.Ser215=)
c.510C= (p.Ser170=)
c.255C= (p.Ser85=)
c.372C= (p.Ser124=)
2g.27097592C>GCA425384417KHKc.507C>G (p.Ser169=)
c.642C>G (p.Ser214=)
n.433C>G
n.855C>G
c.645C>G (p.Ser215=)
c.510C>G (p.Ser170=)
c.255C>G (p.Ser85=)
c.372C>G (p.Ser124=)
2g.27097592C>TCA1569318KHKc.507C>T (p.Ser169=)
c.642C>T (p.Ser214=)
n.433C>T
n.855C>T
c.645C>T (p.Ser215=)
c.510C>T (p.Ser170=)
c.255C>T (p.Ser85=)
c.372C>T (p.Ser124=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.27097593G>ACA1569319KHKc.508G>A (p.Val170Met)
c.643G>A (p.Val215Met)
n.434G>A
n.856G>A
c.646G>A (p.Val216Met)
c.511G>A (p.Val171Met)
c.256G>A (p.Val86Met)
c.373G>A (p.Val125Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27097593G>CCA1569320KHKc.508G>C (p.Val170Leu)
c.643G>C (p.Val215Leu)
n.434G>C
n.856G>C
c.646G>C (p.Val216Leu)
c.511G>C (p.Val171Leu)
c.256G>C (p.Val86Leu)
c.373G>C (p.Val125Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27097593G=CA1240115359KHKc.508G= (p.Val170=)
c.643G= (p.Val215=)
n.434G=
n.856G=
c.646G= (p.Val216=)
c.511G= (p.Val171=)
c.256G= (p.Val86=)
c.373G= (p.Val125=)
2g.27097593G>TCA346162652KHKc.508G>T (p.Val170Leu)
c.643G>T (p.Val215Leu)
n.434G>T
n.856G>T
c.646G>T (p.Val216Leu)
c.511G>T (p.Val171Leu)
c.256G>T (p.Val86Leu)
c.373G>T (p.Val125Leu)
2g.27097594T>ACA346162656KHKc.509T>A (p.Val170Glu)
c.644T>A (p.Val215Glu)
n.435T>A
n.857T>A
c.647T>A (p.Val216Glu)
c.512T>A (p.Val171Glu)
c.257T>A (p.Val86Glu)
c.374T>A (p.Val125Glu)
2g.27097594T>CCA346162659KHKc.509T>C (p.Val170Ala)
c.644T>C (p.Val215Ala)
n.435T>C
n.857T>C
c.647T>C (p.Val216Ala)
c.512T>C (p.Val171Ala)
c.257T>C (p.Val86Ala)
c.374T>C (p.Val125Ala)
2g.27097594T>GCA346162660KHKc.509T>G (p.Val170Gly)
c.644T>G (p.Val215Gly)
n.435T>G
n.857T>G
c.647T>G (p.Val216Gly)
c.512T>G (p.Val171Gly)
c.257T>G (p.Val86Gly)
c.374T>G (p.Val125Gly)
2g.27097595G>ACA425384421KHKc.510G>A (p.Val170=)
c.645G>A (p.Val215=)
n.436G>A
n.858G>A
c.648G>A (p.Val216=)
c.513G>A (p.Val171=)
c.258G>A (p.Val86=)
c.375G>A (p.Val125=)
2g.27097595G>CCA425384422KHKc.510G>C (p.Val170=)
c.645G>C (p.Val215=)
n.436G>C
n.858G>C
c.648G>C (p.Val216=)
c.513G>C (p.Val171=)
c.258G>C (p.Val86=)
c.375G>C (p.Val125=)
2g.27097595G>TCA425384423KHKc.510G>T (p.Val170=)
c.645G>T (p.Val215=)
n.436G>T
n.858G>T
c.648G>T (p.Val216=)
c.513G>T (p.Val171=)
c.258G>T (p.Val86=)
c.375G>T (p.Val125=)
2g.27097596G>ACA346162661KHKc.511G>A (p.Glu171Lys)
c.646G>A (p.Glu216Lys)
n.437G>A
n.859G>A
c.649G>A (p.Glu217Lys)
c.514G>A (p.Glu172Lys)
c.259G>A (p.Glu87Lys)
c.376G>A (p.Glu126Lys)
 gnomAD v4
2g.27097596G>CCA346162662KHKc.511G>C (p.Glu171Gln)
c.646G>C (p.Glu216Gln)
n.437G>C
n.859G>C
c.649G>C (p.Glu217Gln)
c.514G>C (p.Glu172Gln)
c.259G>C (p.Glu87Gln)
c.376G>C (p.Glu126Gln)
 gnomAD v4
2g.27097596G>TCA346162665KHKc.511G>T (p.Glu171Ter)
c.646G>T (p.Glu216Ter)
n.437G>T
n.859G>T
c.649G>T (p.Glu217Ter)
c.514G>T (p.Glu172Ter)
c.259G>T (p.Glu87Ter)
c.376G>T (p.Glu126Ter)
2g.27097597A>CCA346162666KHKc.512A>C (p.Glu171Ala)
c.647A>C (p.Glu216Ala)
n.438A>C
n.860A>C
c.650A>C (p.Glu217Ala)
c.515A>C (p.Glu172Ala)
c.260A>C (p.Glu87Ala)
c.377A>C (p.Glu126Ala)
2g.27097597A>GCA346162669KHKc.512A>G (p.Glu171Gly)
c.647A>G (p.Glu216Gly)
n.438A>G
n.860A>G
c.650A>G (p.Glu217Gly)
c.515A>G (p.Glu172Gly)
c.260A>G (p.Glu87Gly)
c.377A>G (p.Glu126Gly)
2g.27097597A>TCA346162670KHKc.512A>T (p.Glu171Val)
c.647A>T (p.Glu216Val)
n.438A>T
n.860A>T
c.650A>T (p.Glu217Val)
c.515A>T (p.Glu172Val)
c.260A>T (p.Glu87Val)
c.377A>T (p.Glu126Val)
2g.27097598G>ACA1569321KHKc.513G>A (p.Glu171=)
c.648G>A (p.Glu216=)
n.439G>A
n.861G>A
c.651G>A (p.Glu217=)
c.516G>A (p.Glu172=)
c.261G>A (p.Glu87=)
c.378G>A (p.Glu126=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27097598G>CCA346162673KHKc.513G>C (p.Glu171Asp)
c.648G>C (p.Glu216Asp)
n.439G>C
n.861G>C
c.651G>C (p.Glu217Asp)
c.516G>C (p.Glu172Asp)
c.261G>C (p.Glu87Asp)
c.378G>C (p.Glu126Asp)
2g.27097598G=CA1240115360KHKc.513G= (p.Glu171=)
c.648G= (p.Glu216=)
n.439G=
n.861G=
c.651G= (p.Glu217=)
c.516G= (p.Glu172=)
c.261G= (p.Glu87=)
c.378G= (p.Glu126=)
2g.27097598G>TCA346162674KHKc.513G>T (p.Glu171Asp)
c.648G>T (p.Glu216Asp)
n.439G>T
n.861G>T
c.651G>T (p.Glu217Asp)
c.516G>T (p.Glu172Asp)
c.261G>T (p.Glu87Asp)
c.378G>T (p.Glu126Asp)
2g.27097599G>ACA346162678KHKc.514G>A (p.Val172Met)
c.649G>A (p.Val217Met)
n.440G>A
n.862G>A
c.652G>A (p.Val218Met)
c.517G>A (p.Val173Met)
c.262G>A (p.Val88Met)
c.379G>A (p.Val127Met)
2g.27097599G>CCA346162679KHKc.514G>C (p.Val172Leu)
c.649G>C (p.Val217Leu)
n.440G>C
n.862G>C
c.652G>C (p.Val218Leu)
c.517G>C (p.Val173Leu)
c.262G>C (p.Val88Leu)
c.379G>C (p.Val127Leu)
 gnomAD v4
2g.27097599G=CA1240115361KHKc.514G= (p.Val172=)
c.649G= (p.Val217=)
n.440G=
n.862G=
c.652G= (p.Val218=)
c.517G= (p.Val173=)
c.262G= (p.Val88=)
c.379G= (p.Val127=)
2g.27097599G>TCA346162681KHKc.514G>T (p.Val172Leu)
c.649G>T (p.Val217Leu)
n.440G>T
n.862G>T
c.652G>T (p.Val218Leu)
c.517G>T (p.Val173Leu)
c.262G>T (p.Val88Leu)
c.379G>T (p.Val127Leu)
2g.27097600T>ACA346162685KHKc.515T>A (p.Val172Glu)
c.650T>A (p.Val217Glu)
n.441T>A
n.863T>A
c.653T>A (p.Val218Glu)
c.518T>A (p.Val173Glu)
c.263T>A (p.Val88Glu)
c.380T>A (p.Val127Glu)
2g.27097600T>CCA346162686KHKc.515T>C (p.Val172Ala)
c.650T>C (p.Val217Ala)
n.441T>C
n.863T>C
c.653T>C (p.Val218Ala)
c.518T>C (p.Val173Ala)
c.263T>C (p.Val88Ala)
c.380T>C (p.Val127Ala)
2g.27097600T>GCA346162688KHKc.515T>G (p.Val172Gly)
c.650T>G (p.Val217Gly)
n.441T>G
n.863T>G
c.653T>G (p.Val218Gly)
c.518T>G (p.Val173Gly)
c.263T>G (p.Val88Gly)
c.380T>G (p.Val127Gly)
 dbSNP
2g.27097600T=CA1240115362KHKc.515T= (p.Val172=)
c.650T= (p.Val217=)
n.441T=
n.863T=
c.653T= (p.Val218=)
c.518T= (p.Val173=)
c.263T= (p.Val88=)
c.380T= (p.Val127=)
2g.27097600dupCA1028658404KHKc.515dup (p.Glu173GlyfsTer?)
c.650dup (p.Glu218GlyfsTer?)
n.441dup
n.863dup
c.653dup (p.Glu219GlyfsTer?)
c.518dup (p.Glu174GlyfsTer?)
c.263dup (p.Glu89GlyfsTer?)
c.653dup (p.Glu219GlyfsTer30)
c.650dup (p.Glu218GlyfsTer30)
c.518dup (p.Glu174GlyfsTer30)
c.515dup (p.Glu173GlyfsTer30)
c.380dup (p.Glu128GlyfsTer30)
c.263dup (p.Glu89GlyfsTer30)
c.380dup (p.Glu128GlyfsTer?)
 dbSNP gnomAD v3 gnomAD v4
2g.27097600_27097603delinsTGGACA1240115363KHKc.515_518delinsTGGA (p.Val172=)
c.650_653delinsTGGA (p.Val217=)
n.441_444delinsTGGA
n.863_866delinsTGGA
c.653_656delinsTGGA (p.Val218=)
c.518_521delinsTGGA (p.Val173=)
c.263_266delinsTGGA (p.Val88=)
c.380_383delinsTGGA (p.Val127=)
2g.27097601G>ACA425384429KHKc.516G>A (p.Val172=)
c.651G>A (p.Val217=)
n.442G>A
n.864G>A
c.654G>A (p.Val218=)
c.519G>A (p.Val173=)
c.264G>A (p.Val88=)
c.381G>A (p.Val127=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27097601G>CCA425384428KHKc.516G>C (p.Val172=)
c.651G>C (p.Val217=)
n.442G>C
n.864G>C
c.654G>C (p.Val218=)
c.519G>C (p.Val173=)
c.264G>C (p.Val88=)
c.381G>C (p.Val127=)
2g.27097601G=CA1240115364KHKc.516G= (p.Val172=)
c.651G= (p.Val217=)
n.442G=
n.864G=
c.654G= (p.Val218=)
c.519G= (p.Val173=)
c.264G= (p.Val88=)
c.381G= (p.Val127=)
2g.27097601G>TCA425384430KHKc.516G>T (p.Val172=)
c.651G>T (p.Val217=)
n.442G>T
n.864G>T
c.654G>T (p.Val218=)
c.519G>T (p.Val173=)
c.264G>T (p.Val88=)
c.381G>T (p.Val127=)
2g.27097602_27097604delCA1569322KHKc.517_519del (p.Glu173del)
c.652_654del (p.Glu218del)
n.443_445del
n.865_867del
c.655_657del (p.Glu219del)
c.520_522del (p.Glu174del)
c.265_267del (p.Glu89del)
c.382_384del (p.Glu128del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27097602G>ACA346162692KHKc.517G>A (p.Glu173Lys)
c.652G>A (p.Glu218Lys)
n.443G>A
n.865G>A
c.655G>A (p.Glu219Lys)
c.520G>A (p.Glu174Lys)
c.265G>A (p.Glu89Lys)
c.382G>A (p.Glu128Lys)
 gnomAD v4
2g.27097602G>CCA346162695KHKc.517G>C (p.Glu173Gln)
c.652G>C (p.Glu218Gln)
n.443G>C
n.865G>C
c.655G>C (p.Glu219Gln)
c.520G>C (p.Glu174Gln)
c.265G>C (p.Glu89Gln)
c.382G>C (p.Glu128Gln)
2g.27097602G>TCA346162696KHKc.517G>T (p.Glu173Ter)
c.652G>T (p.Glu218Ter)
n.443G>T
n.865G>T
c.655G>T (p.Glu219Ter)
c.520G>T (p.Glu174Ter)
c.265G>T (p.Glu89Ter)
c.382G>T (p.Glu128Ter)
2g.27097603A>CCA346162701KHKc.518A>C (p.Glu173Ala)
c.653A>C (p.Glu218Ala)
n.444A>C
n.866A>C
c.656A>C (p.Glu219Ala)
c.521A>C (p.Glu174Ala)
c.266A>C (p.Glu89Ala)
c.383A>C (p.Glu128Ala)
2g.27097603A>GCA346162704KHKc.518A>G (p.Glu173Gly)
c.653A>G (p.Glu218Gly)
n.444A>G
n.866A>G
c.656A>G (p.Glu219Gly)
c.521A>G (p.Glu174Gly)
c.266A>G (p.Glu89Gly)
c.383A>G (p.Glu128Gly)
2g.27097603A>TCA346162699KHKc.518A>T (p.Glu173Val)
c.653A>T (p.Glu218Val)
n.444A>T
n.866A>T
c.656A>T (p.Glu219Val)
c.521A>T (p.Glu174Val)
c.266A>T (p.Glu89Val)
c.383A>T (p.Glu128Val)
2g.27097604G>ACA1569323KHKc.519G>A (p.Glu173=)
c.654G>A (p.Glu218=)
n.445G>A
n.867G>A
c.657G>A (p.Glu219=)
c.522G>A (p.Glu174=)
c.267G>A (p.Glu89=)
c.384G>A (p.Glu128=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27097604G>CCA346162706KHKc.519G>C (p.Glu173Asp)
c.654G>C (p.Glu218Asp)
n.445G>C
n.867G>C
c.657G>C (p.Glu219Asp)
c.522G>C (p.Glu174Asp)
c.267G>C (p.Glu89Asp)
c.384G>C (p.Glu128Asp)
2g.27097604G=CA1240115365KHKc.519G= (p.Glu173=)
c.654G= (p.Glu218=)
n.445G=
n.867G=
c.657G= (p.Glu219=)
c.522G= (p.Glu174=)
c.267G= (p.Glu89=)
c.384G= (p.Glu128=)
2g.27097604G>TCA346162708KHKc.519G>T (p.Glu173Asp)
c.654G>T (p.Glu218Asp)
n.445G>T
n.867G>T
c.657G>T (p.Glu219Asp)
c.522G>T (p.Glu174Asp)
c.267G>T (p.Glu89Asp)
c.384G>T (p.Glu128Asp)
2g.27097605A>CCA346162710KHKc.520A>C (p.Lys174Gln)
c.655A>C (p.Lys219Gln)
n.446A>C
n.868A>C
c.658A>C (p.Lys220Gln)
c.523A>C (p.Lys175Gln)
c.268A>C (p.Lys90Gln)
c.385A>C (p.Lys129Gln)
2g.27097605A>GCA346162712KHKc.520A>G (p.Lys174Glu)
c.655A>G (p.Lys219Glu)
n.446A>G
n.868A>G
c.658A>G (p.Lys220Glu)
c.523A>G (p.Lys175Glu)
c.268A>G (p.Lys90Glu)
c.385A>G (p.Lys129Glu)
2g.27097605A>TCA346162714KHKc.520A>T (p.Lys174Ter)
c.655A>T (p.Lys219Ter)
n.446A>T
n.868A>T
c.658A>T (p.Lys220Ter)
c.523A>T (p.Lys175Ter)
c.268A>T (p.Lys90Ter)
c.385A>T (p.Lys129Ter)
2g.27097606A>CCA346162716KHKc.521A>C (p.Lys174Thr)
c.656A>C (p.Lys219Thr)
n.447A>C
n.869A>C
c.659A>C (p.Lys220Thr)
c.524A>C (p.Lys175Thr)
c.269A>C (p.Lys90Thr)
c.386A>C (p.Lys129Thr)
2g.27097606A>GCA346162719KHKc.521A>G (p.Lys174Arg)
c.656A>G (p.Lys219Arg)
n.447A>G
n.869A>G
c.659A>G (p.Lys220Arg)
c.524A>G (p.Lys175Arg)
c.269A>G (p.Lys90Arg)
c.386A>G (p.Lys129Arg)
2g.27097606A>TCA346162720KHKc.521A>T (p.Lys174Met)
c.656A>T (p.Lys219Met)
n.447A>T
n.869A>T
c.659A>T (p.Lys220Met)
c.524A>T (p.Lys175Met)
c.269A>T (p.Lys90Met)
c.386A>T (p.Lys129Met)
2g.27097607G>ACA425384434KHKc.522G>A (p.Lys174=)
c.657G>A (p.Lys219=)
n.448G>A
n.870G>A
c.660G>A (p.Lys220=)
c.525G>A (p.Lys175=)
c.270G>A (p.Lys90=)
c.387G>A (p.Lys129=)
2g.27097607G>CCA346162724KHKc.522G>C (p.Lys174Asn)
c.657G>C (p.Lys219Asn)
n.448G>C
n.870G>C
c.660G>C (p.Lys220Asn)
c.525G>C (p.Lys175Asn)
c.270G>C (p.Lys90Asn)
c.387G>C (p.Lys129Asn)
2g.27097607G>TCA346162725KHKc.522G>T (p.Lys174Asn)
c.657G>T (p.Lys219Asn)
n.448G>T
n.870G>T
c.660G>T (p.Lys220Asn)
c.525G>T (p.Lys175Asn)
c.270G>T (p.Lys90Asn)
c.387G>T (p.Lys129Asn)
2g.27097608C>ACA346162728KHKc.523C>A (p.Pro175Thr)
c.658C>A (p.Pro220Thr)
n.449C>A
n.871C>A
c.661C>A (p.Pro221Thr)
c.526C>A (p.Pro176Thr)
c.271C>A (p.Pro91Thr)
c.388C>A (p.Pro130Thr)
2g.27097608C=CA1240115366KHKc.523C= (p.Pro175=)
c.658C= (p.Pro220=)
n.449C=
n.871C=
c.661C= (p.Pro221=)
c.526C= (p.Pro176=)
c.271C= (p.Pro91=)
c.388C= (p.Pro130=)
2g.27097608C>GCA346162730KHKc.523C>G (p.Pro175Ala)
c.658C>G (p.Pro220Ala)
n.449C>G
n.871C>G
c.661C>G (p.Pro221Ala)
c.526C>G (p.Pro176Ala)
c.271C>G (p.Pro91Ala)
c.388C>G (p.Pro130Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27097608C>TCA1569324KHKc.523C>T (p.Pro175Ser)
c.658C>T (p.Pro220Ser)
n.449C>T
n.871C>T
c.661C>T (p.Pro221Ser)
c.526C>T (p.Pro176Ser)
c.271C>T (p.Pro91Ser)
c.388C>T (p.Pro130Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27097609C>ACA346162731KHKc.524C>A (p.Pro175Gln)
c.659C>A (p.Pro220Gln)
n.450C>A
n.872C>A
c.662C>A (p.Pro221Gln)
c.527C>A (p.Pro176Gln)
c.272C>A (p.Pro91Gln)
c.389C>A (p.Pro130Gln)
2g.27097609C=CA1240115367KHKc.524C= (p.Pro175=)
c.659C= (p.Pro220=)
n.450C=
n.872C=
c.662C= (p.Pro221=)
c.527C= (p.Pro176=)
c.272C= (p.Pro91=)
c.389C= (p.Pro130=)
2g.27097609C>GCA346162733KHKc.524C>G (p.Pro175Arg)
c.659C>G (p.Pro220Arg)
n.450C>G
n.872C>G
c.662C>G (p.Pro221Arg)
c.527C>G (p.Pro176Arg)
c.272C>G (p.Pro91Arg)
c.389C>G (p.Pro130Arg)
2g.27097609C>TCA346162734KHKc.524C>T (p.Pro175Leu)
c.659C>T (p.Pro220Leu)
n.450C>T
n.872C>T
c.662C>T (p.Pro221Leu)
c.527C>T (p.Pro176Leu)
c.272C>T (p.Pro91Leu)
c.389C>T (p.Pro130Leu)
 dbSNP gnomAD v2
2g.27097610_27097611dupCA2658283404KHKc.525_526dup (p.Arg176HisfsTer?)
c.660_661dup (p.Arg221HisfsTer?)
n.451_452dup
n.873_874dup
c.663_664dup (p.Arg222HisfsTer?)
c.528_529dup (p.Arg177HisfsTer?)
c.273_274dup (p.Arg92HisfsTer?)
c.390_391dup (p.Arg131HisfsTer?)
 gnomAD v4
2g.27097610A>CCA425384436KHKc.525A>C (p.Pro175=)
c.660A>C (p.Pro220=)
n.451A>C
n.873A>C
c.663A>C (p.Pro221=)
c.528A>C (p.Pro176=)
c.273A>C (p.Pro91=)
c.390A>C (p.Pro130=)
2g.27097610A>GCA425384437KHKc.525A>G (p.Pro175=)
c.660A>G (p.Pro220=)
n.451A>G
n.873A>G
c.663A>G (p.Pro221=)
c.528A>G (p.Pro176=)
c.273A>G (p.Pro91=)
c.390A>G (p.Pro130=)
2g.27097610A>TCA425384438KHKc.525A>T (p.Pro175=)
c.660A>T (p.Pro220=)
n.451A>T
n.873A>T
c.663A>T (p.Pro221=)
c.528A>T (p.Pro176=)
c.273A>T (p.Pro91=)
c.390A>T (p.Pro130=)
2g.27097611C>ACA425384440KHKc.526C>A (p.Arg176=)
c.661C>A (p.Arg221=)
n.452C>A
n.874C>A
c.664C>A (p.Arg222=)
c.529C>A (p.Arg177=)
c.274C>A (p.Arg92=)
c.391C>A (p.Arg131=)
2g.27097611C=CA1240115368KHKc.526C= (p.Arg176=)
c.661C= (p.Arg221=)
n.452C=
n.874C=
c.664C= (p.Arg222=)
c.529C= (p.Arg177=)
c.274C= (p.Arg92=)
c.391C= (p.Arg131=)
2g.27097611C>GCA346162735KHKc.526C>G (p.Arg176Gly)
c.661C>G (p.Arg221Gly)
n.452C>G
n.874C>G
c.664C>G (p.Arg222Gly)
c.529C>G (p.Arg177Gly)
c.274C>G (p.Arg92Gly)
c.391C>G (p.Arg131Gly)
 gnomAD v4
2g.27097611C>TCA1569325KHKc.526C>T (p.Arg176Ter)
c.661C>T (p.Arg221Ter)
n.452C>T
n.874C>T
c.664C>T (p.Arg222Ter)
c.529C>T (p.Arg177Ter)
c.274C>T (p.Arg92Ter)
c.391C>T (p.Arg131Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.27097612G>ACA1569326KHKc.527G>A (p.Arg176Gln)
c.662G>A (p.Arg221Gln)
n.453G>A
n.875G>A
c.665G>A (p.Arg222Gln)
c.530G>A (p.Arg177Gln)
c.275G>A (p.Arg92Gln)
c.392G>A (p.Arg131Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27097612G>CCA346162739KHKc.527G>C (p.Arg176Pro)
c.662G>C (p.Arg221Pro)
n.453G>C
n.875G>C
c.665G>C (p.Arg222Pro)
c.530G>C (p.Arg177Pro)
c.275G>C (p.Arg92Pro)
c.392G>C (p.Arg131Pro)
2g.27097612G=CA1240115369KHKc.527G= (p.Arg176=)
c.662G= (p.Arg221=)
n.453G=
n.875G=
c.665G= (p.Arg222=)
c.530G= (p.Arg177=)
c.275G= (p.Arg92=)
c.392G= (p.Arg131=)
2g.27097612G>TCA346162740KHKc.527G>T (p.Arg176Leu)
c.662G>T (p.Arg221Leu)
n.453G>T
n.875G>T
c.665G>T (p.Arg222Leu)
c.530G>T (p.Arg177Leu)
c.275G>T (p.Arg92Leu)
c.392G>T (p.Arg131Leu)
2g.27097615_27097616delCA2749255163KHKc.530_531del (p.Glu177GlyfsTer?)
c.665_666del (p.Glu222GlyfsTer?)
n.456_457del
n.878_879del
c.668_669del (p.Glu223GlyfsTer?)
c.533_534del (p.Glu178GlyfsTer?)
c.278_279del (p.Glu93GlyfsTer?)
c.668_669del (p.Glu223GlyfsTer25)
c.665_666del (p.Glu222GlyfsTer25)
c.533_534del (p.Glu178GlyfsTer25)
c.530_531del (p.Glu177GlyfsTer25)
c.395_396del (p.Glu132GlyfsTer25)
c.278_279del (p.Glu93GlyfsTer25)
c.395_396del (p.Glu132GlyfsTer?)
2g.27097613A>CCA425384441KHKc.528A>C (p.Arg176=)
c.663A>C (p.Arg221=)
n.454A>C
n.876A>C
c.666A>C (p.Arg222=)
c.531A>C (p.Arg177=)
c.276A>C (p.Arg92=)
c.393A>C (p.Arg131=)
2g.27097613A>GCA425384443KHKc.528A>G (p.Arg176=)
c.663A>G (p.Arg221=)
n.454A>G
n.876A>G
c.666A>G (p.Arg222=)
c.531A>G (p.Arg177=)
c.276A>G (p.Arg92=)
c.393A>G (p.Arg131=)
2g.27097613A>TCA425384442KHKc.528A>T (p.Arg176=)
c.663A>T (p.Arg221=)
n.454A>T
n.876A>T
c.666A>T (p.Arg222=)
c.531A>T (p.Arg177=)
c.276A>T (p.Arg92=)
c.393A>T (p.Arg131=)
2g.27097614G>ACA346162743KHKc.529G>A (p.Glu177Lys)
c.664G>A (p.Glu222Lys)
n.455G>A
n.877G>A
c.667G>A (p.Glu223Lys)
c.532G>A (p.Glu178Lys)
c.277G>A (p.Glu93Lys)
c.394G>A (p.Glu132Lys)
2g.27097614G>CCA346162745KHKc.529G>C (p.Glu177Gln)
c.664G>C (p.Glu222Gln)
n.455G>C
n.877G>C
c.667G>C (p.Glu223Gln)
c.532G>C (p.Glu178Gln)
c.277G>C (p.Glu93Gln)
c.394G>C (p.Glu132Gln)
2g.27097614G>TCA346162746KHKc.529G>T (p.Glu177Ter)
c.664G>T (p.Glu222Ter)
n.455G>T
n.877G>T
c.667G>T (p.Glu223Ter)
c.532G>T (p.Glu178Ter)
c.277G>T (p.Glu93Ter)
c.394G>T (p.Glu132Ter)
2g.27097617_27097619delCA2658283426KHKc.532_534del (p.Glu178del)
c.667_669del (p.Glu223del)
n.458_460del
n.880_882del
c.670_672del (p.Glu224del)
c.535_537del (p.Glu179del)
c.280_282del (p.Glu94del)
c.397_399del (p.Glu133del)
 gnomAD v4
2g.27097615A>CCA346162748KHKc.530A>C (p.Glu177Ala)
c.665A>C (p.Glu222Ala)
n.456A>C
n.878A>C
c.668A>C (p.Glu223Ala)
c.533A>C (p.Glu178Ala)
c.278A>C (p.Glu93Ala)
c.395A>C (p.Glu132Ala)
2g.27097615A>GCA346162750KHKc.530A>G (p.Glu177Gly)
c.665A>G (p.Glu222Gly)
n.456A>G
n.878A>G
c.668A>G (p.Glu223Gly)
c.533A>G (p.Glu178Gly)
c.278A>G (p.Glu93Gly)
c.395A>G (p.Glu132Gly)
2g.27097615A>TCA346162752KHKc.530A>T (p.Glu177Val)
c.665A>T (p.Glu222Val)
n.456A>T
n.878A>T
c.668A>T (p.Glu223Val)
c.533A>T (p.Glu178Val)
c.278A>T (p.Glu93Val)
c.395A>T (p.Glu132Val)
2g.27097616G>ACA425384445KHKc.531G>A (p.Glu177=)
c.666G>A (p.Glu222=)
n.457G>A
n.879G>A
c.669G>A (p.Glu223=)
c.534G>A (p.Glu178=)
c.279G>A (p.Glu93=)
c.396G>A (p.Glu132=)
2g.27097616G>CCA346162755KHKc.531G>C (p.Glu177Asp)
c.666G>C (p.Glu222Asp)
n.457G>C
n.879G>C
c.669G>C (p.Glu223Asp)
c.534G>C (p.Glu178Asp)
c.279G>C (p.Glu93Asp)
c.396G>C (p.Glu132Asp)
2g.27097616G>TCA346162753KHKc.531G>T (p.Glu177Asp)
c.666G>T (p.Glu222Asp)
n.457G>T
n.879G>T
c.669G>T (p.Glu223Asp)
c.534G>T (p.Glu178Asp)
c.279G>T (p.Glu93Asp)
c.396G>T (p.Glu132Asp)
2g.27097617G>ACA346162757KHKc.532G>A (p.Glu178Lys)
c.667G>A (p.Glu223Lys)
n.458G>A
n.880G>A
c.670G>A (p.Glu224Lys)
c.535G>A (p.Glu179Lys)
c.280G>A (p.Glu94Lys)
c.397G>A (p.Glu133Lys)
2g.27097617G>CCA346162761KHKc.532G>C (p.Glu178Gln)
c.667G>C (p.Glu223Gln)
n.458G>C
n.880G>C
c.670G>C (p.Glu224Gln)
c.535G>C (p.Glu179Gln)
c.280G>C (p.Glu94Gln)
c.397G>C (p.Glu133Gln)
2g.27097617G>TCA346162760KHKc.532G>T (p.Glu178Ter)
c.667G>T (p.Glu223Ter)
n.458G>T
n.880G>T
c.670G>T (p.Glu224Ter)
c.535G>T (p.Glu179Ter)
c.280G>T (p.Glu94Ter)
c.397G>T (p.Glu133Ter)
2g.27097618A>CCA346162763KHKc.533A>C (p.Glu178Ala)
c.668A>C (p.Glu223Ala)
n.459A>C
n.881A>C
c.671A>C (p.Glu224Ala)
c.536A>C (p.Glu179Ala)
c.281A>C (p.Glu94Ala)
c.398A>C (p.Glu133Ala)
2g.27097618A>GCA346162764KHKc.533A>G (p.Glu178Gly)
c.668A>G (p.Glu223Gly)
n.459A>G
n.881A>G
c.671A>G (p.Glu224Gly)
c.536A>G (p.Glu179Gly)
c.281A>G (p.Glu94Gly)
c.398A>G (p.Glu133Gly)
2g.27097618A>TCA346162767KHKc.533A>T (p.Glu178Val)
c.668A>T (p.Glu223Val)
n.459A>T
n.881A>T
c.671A>T (p.Glu224Val)
c.536A>T (p.Glu179Val)
c.281A>T (p.Glu94Val)
c.398A>T (p.Glu133Val)
2g.27097619G>ACA425384448KHKc.534G>A (p.Glu178=)
c.669G>A (p.Glu223=)
n.460G>A
n.882G>A
c.672G>A (p.Glu224=)
c.537G>A (p.Glu179=)
c.282G>A (p.Glu94=)
c.399G>A (p.Glu133=)
2g.27097619G>CCA346162768KHKc.534G>C (p.Glu178Asp)
c.669G>C (p.Glu223Asp)
n.460G>C
n.882G>C
c.672G>C (p.Glu224Asp)
c.537G>C (p.Glu179Asp)
c.282G>C (p.Glu94Asp)
c.399G>C (p.Glu133Asp)
 dbSNP gnomAD v4
2g.27097619G=CA1240115370KHKc.534G= (p.Glu178=)
c.669G= (p.Glu223=)
n.460G=
n.882G=
c.672G= (p.Glu224=)
c.537G= (p.Glu179=)
c.282G= (p.Glu94=)
c.399G= (p.Glu133=)
2g.27097619G>TCA346162769KHKc.534G>T (p.Glu178Asp)
c.669G>T (p.Glu223Asp)
n.460G>T
n.882G>T
c.672G>T (p.Glu224Asp)
c.537G>T (p.Glu179Asp)
c.282G>T (p.Glu94Asp)
c.399G>T (p.Glu133Asp)
2g.27097620C>ACA346162772KHKc.535C>A (p.Leu179Ile)
c.670C>A (p.Leu224Ile)
n.461C>A
n.883C>A
c.673C>A (p.Leu225Ile)
c.538C>A (p.Leu180Ile)
c.283C>A (p.Leu95Ile)
c.400C>A (p.Leu134Ile)
2g.27097620C>GCA346162774KHKc.535C>G (p.Leu179Val)
c.670C>G (p.Leu224Val)
n.461C>G
n.883C>G
c.673C>G (p.Leu225Val)
c.538C>G (p.Leu180Val)
c.283C>G (p.Leu95Val)
c.400C>G (p.Leu134Val)
 gnomAD v4
2g.27097620C>TCA346162776KHKc.535C>T (p.Leu179Phe)
c.670C>T (p.Leu224Phe)
n.461C>T
n.883C>T
c.673C>T (p.Leu225Phe)
c.538C>T (p.Leu180Phe)
c.283C>T (p.Leu95Phe)
c.400C>T (p.Leu134Phe)
2g.27097621T>ACA346162780KHKc.536T>A (p.Leu179His)
c.671T>A (p.Leu224His)
n.462T>A
n.884T>A
c.674T>A (p.Leu225His)
c.539T>A (p.Leu180His)
c.284T>A (p.Leu95His)
c.401T>A (p.Leu134His)
2g.27097621T>CCA346162782KHKc.536T>C (p.Leu179Pro)
c.671T>C (p.Leu224Pro)
n.462T>C
n.884T>C
c.674T>C (p.Leu225Pro)
c.539T>C (p.Leu180Pro)
c.284T>C (p.Leu95Pro)
c.401T>C (p.Leu134Pro)
2g.27097621T>GCA346162783KHKc.536T>G (p.Leu179Arg)
c.671T>G (p.Leu224Arg)
n.462T>G
n.884T>G
c.674T>G (p.Leu225Arg)
c.539T>G (p.Leu180Arg)
c.284T>G (p.Leu95Arg)
c.401T>G (p.Leu134Arg)
2g.27097622C>ACA425384450KHKc.537C>A (p.Leu179=)
c.672C>A (p.Leu224=)
n.463C>A
n.885C>A
c.675C>A (p.Leu225=)
c.540C>A (p.Leu180=)
c.285C>A (p.Leu95=)
c.402C>A (p.Leu134=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27097622C=CA1240115371KHKc.537C= (p.Leu179=)
c.672C= (p.Leu224=)
n.463C=
n.885C=
c.675C= (p.Leu225=)
c.540C= (p.Leu180=)
c.285C= (p.Leu95=)
c.402C= (p.Leu134=)
2g.27097622C>GCA425384452KHKc.537C>G (p.Leu179=)
c.672C>G (p.Leu224=)
n.463C>G
n.885C>G
c.675C>G (p.Leu225=)
c.540C>G (p.Leu180=)
c.285C>G (p.Leu95=)
c.402C>G (p.Leu134=)
2g.27097622C>TCA425384454KHKc.537C>T (p.Leu179=)
c.672C>T (p.Leu224=)
n.463C>T
n.885C>T
c.675C>T (p.Leu225=)
c.540C>T (p.Leu180=)
c.285C>T (p.Leu95=)
c.402C>T (p.Leu134=)
 COSMIC COSMIC
2g.27097623T>ACA346162787KHKc.538T>A (p.Phe180Ile)
c.673T>A (p.Phe225Ile)
n.464T>A
n.886T>A
c.676T>A (p.Phe226Ile)
c.541T>A (p.Phe181Ile)
c.286T>A (p.Phe96Ile)
c.403T>A (p.Phe135Ile)
2g.27097623T>CCA346162786KHKc.538T>C (p.Phe180Leu)
c.673T>C (p.Phe225Leu)
n.464T>C
n.886T>C
c.676T>C (p.Phe226Leu)
c.541T>C (p.Phe181Leu)
c.286T>C (p.Phe96Leu)
c.403T>C (p.Phe135Leu)
 gnomAD v4
2g.27097623T>GCA346162784KHKc.538T>G (p.Phe180Val)
c.673T>G (p.Phe225Val)
n.464T>G
n.886T>G
c.676T>G (p.Phe226Val)
c.541T>G (p.Phe181Val)
c.286T>G (p.Phe96Val)
c.403T>G (p.Phe135Val)
2g.27097624T>ACA346162790KHKc.539T>A (p.Phe180Tyr)
c.674T>A (p.Phe225Tyr)
n.465T>A
n.887T>A
c.677T>A (p.Phe226Tyr)
c.542T>A (p.Phe181Tyr)
c.287T>A (p.Phe96Tyr)
c.404T>A (p.Phe135Tyr)
2g.27097624T>CCA346162791KHKc.539T>C (p.Phe180Ser)
c.674T>C (p.Phe225Ser)
n.465T>C
n.887T>C
c.677T>C (p.Phe226Ser)
c.542T>C (p.Phe181Ser)
c.287T>C (p.Phe96Ser)
c.404T>C (p.Phe135Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.27097624T>GCA346162794KHKc.539T>G (p.Phe180Cys)
c.674T>G (p.Phe225Cys)
n.465T>G
n.887T>G
c.677T>G (p.Phe226Cys)
c.542T>G (p.Phe181Cys)
c.287T>G (p.Phe96Cys)
c.404T>G (p.Phe135Cys)
2g.27097624T=CA1240115372KHKc.539T= (p.Phe180=)
c.674T= (p.Phe225=)
n.465T=
n.887T=
c.677T= (p.Phe226=)
c.542T= (p.Phe181=)
c.287T= (p.Phe96=)
c.404T= (p.Phe135=)
2g.27097625C>ACA346162795KHKc.540C>A (p.Phe180Leu)
c.675C>A (p.Phe225Leu)
n.466C>A
n.888C>A
c.678C>A (p.Phe226Leu)
c.543C>A (p.Phe181Leu)
c.288C>A (p.Phe96Leu)
c.405C>A (p.Phe135Leu)
 gnomAD v4
2g.27097625C=CA1240115373KHKc.540C= (p.Phe180=)
c.675C= (p.Phe225=)
n.466C=
n.888C=
c.678C= (p.Phe226=)
c.543C= (p.Phe181=)
c.288C= (p.Phe96=)
c.405C= (p.Phe135=)
2g.27097625C>GCA346162797KHKc.540C>G (p.Phe180Leu)
c.675C>G (p.Phe225Leu)
n.466C>G
n.888C>G
c.678C>G (p.Phe226Leu)
c.543C>G (p.Phe181Leu)
c.288C>G (p.Phe96Leu)
c.405C>G (p.Phe135Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.27097625C>TCA425384455KHKc.540C>T (p.Phe180=)
c.675C>T (p.Phe225=)
n.466C>T
n.888C>T
c.678C>T (p.Phe226=)
c.543C>T (p.Phe181=)
c.288C>T (p.Phe96=)
c.405C>T (p.Phe135=)
2g.27097626C>ACA346162799KHKc.541C>A (p.Gln181Lys)
c.676C>A (p.Gln226Lys)
n.467C>A
n.889C>A
c.679C>A (p.Gln227Lys)
c.544C>A (p.Gln182Lys)
c.289C>A (p.Gln97Lys)
c.406C>A (p.Gln136Lys)
2g.27097626C>GCA346162801KHKc.541C>G (p.Gln181Glu)
c.676C>G (p.Gln226Glu)
n.467C>G
n.889C>G
c.679C>G (p.Gln227Glu)
c.544C>G (p.Gln182Glu)
c.289C>G (p.Gln97Glu)
c.406C>G (p.Gln136Glu)
2g.27097626C>TCA346162803KHKc.541C>T (p.Gln181Ter)
c.676C>T (p.Gln226Ter)
n.467C>T
n.889C>T
c.679C>T (p.Gln227Ter)
c.544C>T (p.Gln182Ter)
c.289C>T (p.Gln97Ter)
c.406C>T (p.Gln136Ter)
2g.27097627A>CCA346162805KHKc.542A>C (p.Gln181Pro)
c.677A>C (p.Gln226Pro)
n.468A>C
n.890A>C
c.680A>C (p.Gln227Pro)
c.545A>C (p.Gln182Pro)
c.290A>C (p.Gln97Pro)
c.407A>C (p.Gln136Pro)
2g.27097627A>GCA346162807KHKc.542A>G (p.Gln181Arg)
c.677A>G (p.Gln226Arg)
n.468A>G
n.890A>G
c.680A>G (p.Gln227Arg)
c.545A>G (p.Gln182Arg)
c.290A>G (p.Gln97Arg)
c.407A>G (p.Gln136Arg)
2g.27097627A>TCA346162808KHKc.542A>T (p.Gln181Leu)
c.677A>T (p.Gln226Leu)
n.468A>T
n.890A>T
c.680A>T (p.Gln227Leu)
c.545A>T (p.Gln182Leu)
c.290A>T (p.Gln97Leu)
c.407A>T (p.Gln136Leu)
2g.27097628G>ACA425384457KHKc.543G>A (p.Gln181=)
c.678G>A (p.Gln226=)
n.469G>A
n.891G>A
c.681G>A (p.Gln227=)
c.546G>A (p.Gln182=)
c.291G>A (p.Gln97=)
c.408G>A (p.Gln136=)
 gnomAD v4
2g.27097628G>CCA346162811KHKc.543G>C (p.Gln181His)
c.678G>C (p.Gln226His)
n.469G>C
n.891G>C
c.681G>C (p.Gln227His)
c.546G>C (p.Gln182His)
c.291G>C (p.Gln97His)
c.408G>C (p.Gln136His)
2g.27097628G>TCA346162812KHKc.543G>T (p.Gln181His)
c.678G>T (p.Gln226His)
n.469G>T
n.891G>T
c.681G>T (p.Gln227His)
c.546G>T (p.Gln182His)
c.291G>T (p.Gln97His)
c.408G>T (p.Gln136His)
2g.27097629C>ACA346162814KHKc.544C>A (p.Leu182Met)
c.679C>A (p.Leu227Met)
n.470C>A
n.892C>A
c.682C>A (p.Leu228Met)
c.547C>A (p.Leu183Met)
c.292C>A (p.Leu98Met)
c.409C>A (p.Leu137Met)
2g.27097629C>GCA346162816KHKc.544C>G (p.Leu182Val)
c.679C>G (p.Leu227Val)
n.470C>G
n.892C>G
c.682C>G (p.Leu228Val)
c.547C>G (p.Leu183Val)
c.292C>G (p.Leu98Val)
c.409C>G (p.Leu137Val)
2g.27097629C>TCA425384459KHKc.544C>T (p.Leu182=)
c.679C>T (p.Leu227=)
n.470C>T
n.892C>T
c.682C>T (p.Leu228=)
c.547C>T (p.Leu183=)
c.292C>T (p.Leu98=)
c.409C>T (p.Leu137=)
2g.27097630T>ACA346162817KHKc.545T>A (p.Leu182Gln)
c.680T>A (p.Leu227Gln)
n.471T>A
n.893T>A
c.683T>A (p.Leu228Gln)
c.548T>A (p.Leu183Gln)
c.293T>A (p.Leu98Gln)
c.410T>A (p.Leu137Gln)
2g.27097630T>CCA346162820KHKc.545T>C (p.Leu182Pro)
c.680T>C (p.Leu227Pro)
n.471T>C
n.893T>C
c.683T>C (p.Leu228Pro)
c.548T>C (p.Leu183Pro)
c.293T>C (p.Leu98Pro)
c.410T>C (p.Leu137Pro)
2g.27097630T>GCA346162824KHKc.545T>G (p.Leu182Arg)
c.680T>G (p.Leu227Arg)
n.471T>G
n.893T>G
c.683T>G (p.Leu228Arg)
c.548T>G (p.Leu183Arg)
c.293T>G (p.Leu98Arg)
c.410T>G (p.Leu137Arg)
 gnomAD v4
2g.27097631G>ACA425384460KHKc.546G>A (p.Leu182=)
c.681G>A (p.Leu227=)
n.472G>A
n.894G>A
c.684G>A (p.Leu228=)
c.549G>A (p.Leu183=)
c.294G>A (p.Leu98=)
c.411G>A (p.Leu137=)
2g.27097631G>CCA425384461KHKc.546G>C (p.Leu182=)
c.681G>C (p.Leu227=)
n.472G>C
n.894G>C
c.684G>C (p.Leu228=)
c.549G>C (p.Leu183=)
c.294G>C (p.Leu98=)
c.411G>C (p.Leu137=)
2g.27097631G>TCA425384462KHKc.546G>T (p.Leu182=)
c.681G>T (p.Leu227=)
n.472G>T
n.894G>T
c.684G>T (p.Leu228=)
c.549G>T (p.Leu183=)
c.294G>T (p.Leu98=)
c.411G>T (p.Leu137=)
2g.27097632T>ACA346162826KHKc.547T>A (p.Phe183Ile)
c.682T>A (p.Phe228Ile)
n.473T>A
n.895T>A
c.685T>A (p.Phe229Ile)
c.550T>A (p.Phe184Ile)
c.295T>A (p.Phe99Ile)
c.412T>A (p.Phe138Ile)
2g.27097632T>CCA346162828KHKc.547T>C (p.Phe183Leu)
c.682T>C (p.Phe228Leu)
n.473T>C
n.895T>C
c.685T>C (p.Phe229Leu)
c.550T>C (p.Phe184Leu)
c.295T>C (p.Phe99Leu)
c.412T>C (p.Phe138Leu)
2g.27097632T>GCA346162829KHKc.547T>G (p.Phe183Val)
c.682T>G (p.Phe228Val)
n.473T>G
n.895T>G
c.685T>G (p.Phe229Val)
c.550T>G (p.Phe184Val)
c.295T>G (p.Phe99Val)
c.412T>G (p.Phe138Val)
 gnomAD v4
2g.27097633T>ACA346162832KHKc.548T>A (p.Phe183Tyr)
c.683T>A (p.Phe228Tyr)
n.474T>A
n.896T>A
c.686T>A (p.Phe229Tyr)
c.551T>A (p.Phe184Tyr)
c.296T>A (p.Phe99Tyr)
c.413T>A (p.Phe138Tyr)
2g.27097633T>CCA1569327KHKc.548T>C (p.Phe183Ser)
c.683T>C (p.Phe228Ser)
n.474T>C
n.896T>C
c.686T>C (p.Phe229Ser)
c.551T>C (p.Phe184Ser)
c.296T>C (p.Phe99Ser)
c.413T>C (p.Phe138Ser)
 dbSNP ExAC gnomAD v2
2g.27097633T>GCA346162834KHKc.548T>G (p.Phe183Cys)
c.683T>G (p.Phe228Cys)
n.474T>G
n.896T>G
c.686T>G (p.Phe229Cys)
c.551T>G (p.Phe184Cys)
c.296T>G (p.Phe99Cys)
c.413T>G (p.Phe138Cys)
2g.27097633T=CA1240115374KHKc.548T= (p.Phe183=)
c.683T= (p.Phe228=)
n.474T=
n.896T=
c.686T= (p.Phe229=)
c.551T= (p.Phe184=)
c.296T= (p.Phe99=)
c.413T= (p.Phe138=)
2g.27097634T>ACA346162836KHKc.549T>A (p.Phe183Leu)
c.684T>A (p.Phe228Leu)
n.475T>A
n.897T>A
c.687T>A (p.Phe229Leu)
c.552T>A (p.Phe184Leu)
c.297T>A (p.Phe99Leu)
c.414T>A (p.Phe138Leu)
2g.27097634T>CCA1569328KHKc.549T>C (p.Phe183=)
c.684T>C (p.Phe228=)
n.475T>C
n.897T>C
c.687T>C (p.Phe229=)
c.552T>C (p.Phe184=)
c.297T>C (p.Phe99=)
c.414T>C (p.Phe138=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27097634T>GCA346162842KHKc.549T>G (p.Phe183Leu)
c.684T>G (p.Phe228Leu)
n.475T>G
n.897T>G
c.687T>G (p.Phe229Leu)
c.552T>G (p.Phe184Leu)
c.297T>G (p.Phe99Leu)
c.414T>G (p.Phe138Leu)
2g.27097634T=CA1240115375KHKc.549T= (p.Phe183=)
c.684T= (p.Phe228=)
n.475T=
n.897T=
c.687T= (p.Phe229=)
c.552T= (p.Phe184=)
c.297T= (p.Phe99=)
c.414T= (p.Phe138=)
2g.27097635G>ACA346162849KHKc.550G>A (p.Gly184Ser)
c.685G>A (p.Gly229Ser)
n.476G>A
n.898G>A
c.688G>A (p.Gly230Ser)
c.553G>A (p.Gly185Ser)
c.298G>A (p.Gly100Ser)
c.415G>A (p.Gly139Ser)
 gnomAD v4
2g.27097635G>CCA346162847KHKc.550G>C (p.Gly184Arg)
c.685G>C (p.Gly229Arg)
n.476G>C
n.898G>C
c.688G>C (p.Gly230Arg)
c.553G>C (p.Gly185Arg)
c.298G>C (p.Gly100Arg)
c.415G>C (p.Gly139Arg)
2g.27097635G>TCA346162845KHKc.550G>T (p.Gly184Cys)
c.685G>T (p.Gly229Cys)
n.476G>T
n.898G>T
c.688G>T (p.Gly230Cys)
c.553G>T (p.Gly185Cys)
c.298G>T (p.Gly100Cys)
c.415G>T (p.Gly139Cys)
2g.27097636G>ACA346162852KHKc.551G>A (p.Gly184Asp)
c.686G>A (p.Gly229Asp)
n.477G>A
n.899G>A
c.689G>A (p.Gly230Asp)
c.554G>A (p.Gly185Asp)
c.299G>A (p.Gly100Asp)
c.416G>A (p.Gly139Asp)
2g.27097636G>CCA346162853KHKc.551G>C (p.Gly184Ala)
c.686G>C (p.Gly229Ala)
n.477G>C
n.899G>C
c.689G>C (p.Gly230Ala)
c.554G>C (p.Gly185Ala)
c.299G>C (p.Gly100Ala)
c.416G>C (p.Gly139Ala)
2g.27097636G=CA1240115376KHKc.551G= (p.Gly184=)
c.686G= (p.Gly229=)
n.477G=
n.899G=
c.689G= (p.Gly230=)
c.554G= (p.Gly185=)
c.299G= (p.Gly100=)
c.416G= (p.Gly139=)
2g.27097636G>TCA1569329KHKc.551G>T (p.Gly184Val)
c.686G>T (p.Gly229Val)
n.477G>T
n.899G>T
c.689G>T (p.Gly230Val)
c.554G>T (p.Gly185Val)
c.299G>T (p.Gly100Val)
c.416G>T (p.Gly139Val)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.27097637C>ACA425384464KHKc.552C>A (p.Gly184=)
c.687C>A (p.Gly229=)
n.478C>A
n.900C>A
c.690C>A (p.Gly230=)
c.555C>A (p.Gly185=)
c.300C>A (p.Gly100=)
c.417C>A (p.Gly139=)
2g.27097637C=CA1240115377KHKc.552C= (p.Gly184=)
c.687C= (p.Gly229=)
n.478C=
n.900C=
c.690C= (p.Gly230=)
c.555C= (p.Gly185=)
c.300C= (p.Gly100=)
c.417C= (p.Gly139=)
2g.27097637C>GCA1569330KHKc.552C>G (p.Gly184=)
c.687C>G (p.Gly229=)
n.478C>G
n.900C>G
c.690C>G (p.Gly230=)
c.555C>G (p.Gly185=)
c.300C>G (p.Gly100=)
c.417C>G (p.Gly139=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27097637C>TCA425384465KHKc.552C>T (p.Gly184=)
c.687C>T (p.Gly229=)
n.478C>T
n.900C>T
c.690C>T (p.Gly230=)
c.555C>T (p.Gly185=)
c.300C>T (p.Gly100=)
c.417C>T (p.Gly139=)
2g.27097638T>ACA346162856KHKc.553T>A (p.Tyr185Asn)
c.688T>A (p.Tyr230Asn)
n.479T>A
n.901T>A
c.691T>A (p.Tyr231Asn)
c.556T>A (p.Tyr186Asn)
c.301T>A (p.Tyr101Asn)
c.418T>A (p.Tyr140Asn)
2g.27097638T>CCA346162857KHKc.553T>C (p.Tyr185His)
c.688T>C (p.Tyr230His)
n.479T>C
n.901T>C
c.691T>C (p.Tyr231His)
c.556T>C (p.Tyr186His)
c.301T>C (p.Tyr101His)
c.418T>C (p.Tyr140His)
2g.27097638T>GCA346162858KHKc.553T>G (p.Tyr185Asp)
c.688T>G (p.Tyr230Asp)
n.479T>G
n.901T>G
c.691T>G (p.Tyr231Asp)
c.556T>G (p.Tyr186Asp)
c.301T>G (p.Tyr101Asp)
c.418T>G (p.Tyr140Asp)
2g.27097639A=CA1240115378KHKc.554A= (p.Tyr185=)
c.689A= (p.Tyr230=)
n.480A=
n.902A=
c.692A= (p.Tyr231=)
c.557A= (p.Tyr186=)
c.302A= (p.Tyr101=)
c.419A= (p.Tyr140=)
2g.27097639A>CCA346162859KHKc.554A>C (p.Tyr185Ser)
c.689A>C (p.Tyr230Ser)
n.480A>C
n.902A>C
c.692A>C (p.Tyr231Ser)
c.557A>C (p.Tyr186Ser)
c.302A>C (p.Tyr101Ser)
c.419A>C (p.Tyr140Ser)
2g.27097639A>GCA346162861KHKc.554A>G (p.Tyr185Cys)
c.689A>G (p.Tyr230Cys)
n.480A>G
n.902A>G
c.692A>G (p.Tyr231Cys)
c.557A>G (p.Tyr186Cys)
c.302A>G (p.Tyr101Cys)
c.419A>G (p.Tyr140Cys)
2g.27097639A>TCA1569331KHKc.554A>T (p.Tyr185Phe)
c.689A>T (p.Tyr230Phe)
n.480A>T
n.902A>T
c.692A>T (p.Tyr231Phe)
c.557A>T (p.Tyr186Phe)
c.302A>T (p.Tyr101Phe)
c.419A>T (p.Tyr140Phe)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.27097640C>ACA346162864KHKc.555C>A (p.Tyr185Ter)
c.690C>A (p.Tyr230Ter)
n.481C>A
n.903C>A
c.693C>A (p.Tyr231Ter)
c.558C>A (p.Tyr186Ter)
c.303C>A (p.Tyr101Ter)
c.420C>A (p.Tyr140Ter)
 gnomAD v4
2g.27097640C=CA1240115379KHKc.555C= (p.Tyr185=)
c.690C= (p.Tyr230=)
n.481C=
n.903C=
c.693C= (p.Tyr231=)
c.558C= (p.Tyr186=)
c.303C= (p.Tyr101=)
c.420C= (p.Tyr140=)
2g.27097640C>GCA346162865KHKc.555C>G (p.Tyr185Ter)
c.690C>G (p.Tyr230Ter)
n.481C>G
n.903C>G
c.693C>G (p.Tyr231Ter)
c.558C>G (p.Tyr186Ter)
c.303C>G (p.Tyr101Ter)
c.420C>G (p.Tyr140Ter)
 gnomAD v4
2g.27097640C>TCA1569332KHKc.555C>T (p.Tyr185=)
c.690C>T (p.Tyr230=)
n.481C>T
n.903C>T
c.693C>T (p.Tyr231=)
c.558C>T (p.Tyr186=)
c.303C>T (p.Tyr101=)
c.420C>T (p.Tyr140=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.27097641G>ACA1569333KHKc.556G>A (p.Gly186Arg)
c.691G>A (p.Gly231Arg)
n.482G>A
n.904G>A
c.694G>A (p.Gly232Arg)
c.559G>A (p.Gly187Arg)
c.304G>A (p.Gly102Arg)
c.421G>A (p.Gly141Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27097641G>CCA346162870KHKc.556G>C (p.Gly186Arg)
c.691G>C (p.Gly231Arg)
n.482G>C
n.904G>C
c.694G>C (p.Gly232Arg)
c.559G>C (p.Gly187Arg)
c.304G>C (p.Gly102Arg)
c.421G>C (p.Gly141Arg)
2g.27097641G=CA1240115380KHKc.556G= (p.Gly186=)
c.691G= (p.Gly231=)
n.482G=
n.904G=
c.694G= (p.Gly232=)
c.559G= (p.Gly187=)
c.304G= (p.Gly102=)
c.421G= (p.Gly141=)
2g.27097641G>TCA346162867KHKc.556G>T (p.Gly186Ter)
c.691G>T (p.Gly231Ter)
n.482G>T
n.904G>T
c.694G>T (p.Gly232Ter)
c.559G>T (p.Gly187Ter)
c.304G>T (p.Gly102Ter)
c.421G>T (p.Gly141Ter)
2g.27097641_27097642delinsAACA645530562KHKc.556_557delinsAA (p.Gly186Lys)
c.691_692delinsAA (p.Gly231Lys)
n.482_483delinsAA
n.904_905delinsAA
c.694_695delinsAA (p.Gly232Lys)
c.559_560delinsAA (p.Gly187Lys)
c.304_305delinsAA (p.Gly102Lys)
c.421_422delinsAA (p.Gly141Lys)
 COSMIC COSMIC
2g.27097642G>ACA10613040KHKc.557G>A (p.Gly186Glu)
c.692G>A (p.Gly231Glu)
n.483G>A
n.905G>A
c.695G>A (p.Gly232Glu)
c.560G>A (p.Gly187Glu)
c.305G>A (p.Gly102Glu)
c.422G>A (p.Gly141Glu)
 ClinVar dbSNP
2g.27097642G>CCA346162871KHKc.557G>C (p.Gly186Ala)
c.692G>C (p.Gly231Ala)
n.483G>C
n.905G>C
c.695G>C (p.Gly232Ala)
c.560G>C (p.Gly187Ala)
c.305G>C (p.Gly102Ala)
c.422G>C (p.Gly141Ala)
2g.27097642G=CA1240115381KHKc.557G= (p.Gly186=)
c.692G= (p.Gly231=)
n.483G=
n.905G=
c.695G= (p.Gly232=)
c.560G= (p.Gly187=)
c.305G= (p.Gly102=)
c.422G= (p.Gly141=)
2g.27097642G>TCA346162872KHKc.557G>T (p.Gly186Val)
c.692G>T (p.Gly231Val)
n.483G>T
n.905G>T
c.695G>T (p.Gly232Val)
c.560G>T (p.Gly187Val)
c.305G>T (p.Gly102Val)
c.422G>T (p.Gly141Val)

Number of alleles fetched