Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.189864285C>ACA437412880TP63c.633C>A (p.Ile211=)
c.351C>A (p.Ile117=)
c.96C>A (p.Ile32=)
n.457C>A
c.582C>A (p.Ile194=)
c.630C>A (p.Ile210=)
c.627C>A (p.Ile209=)
c.594C>A (p.Ile198=)
3g.189864285C=CA1428525415TP63c.633C= (p.Ile211=)
c.351C= (p.Ile117=)
c.96C= (p.Ile32=)
n.457C=
c.582C= (p.Ile194=)
c.630C= (p.Ile210=)
c.627C= (p.Ile209=)
c.594C= (p.Ile198=)
3g.189864285C>GCA355753293TP63c.633C>G (p.Ile211Met)
c.351C>G (p.Ile117Met)
c.96C>G (p.Ile32Met)
n.457C>G
c.582C>G (p.Ile194Met)
c.630C>G (p.Ile210Met)
c.627C>G (p.Ile209Met)
c.594C>G (p.Ile198Met)
3g.189864285C>TCA2752215TP63c.633C>T (p.Ile211=)
c.351C>T (p.Ile117=)
c.96C>T (p.Ile32=)
n.457C>T
c.582C>T (p.Ile194=)
c.630C>T (p.Ile210=)
c.627C>T (p.Ile209=)
c.594C>T (p.Ile198=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189864286C>ACA89741996TP63c.634C>A (p.Gln212Lys)
c.352C>A (p.Gln118Lys)
c.97C>A (p.Gln33Lys)
n.458C>A
c.583C>A (p.Gln195Lys)
c.631C>A (p.Gln211Lys)
c.628C>A (p.Gln210Lys)
c.595C>A (p.Gln199Lys)
dbSNP gnomAD v3 gnomAD v4
3g.189864286C=CA1428525416TP63c.634C= (p.Gln212=)
c.352C= (p.Gln118=)
c.97C= (p.Gln33=)
n.458C=
c.583C= (p.Gln195=)
c.631C= (p.Gln211=)
c.628C= (p.Gln210=)
c.595C= (p.Gln199=)
3g.189864286C>GCA355753295TP63c.634C>G (p.Gln212Glu)
c.352C>G (p.Gln118Glu)
c.97C>G (p.Gln33Glu)
n.458C>G
c.583C>G (p.Gln195Glu)
c.631C>G (p.Gln211Glu)
c.628C>G (p.Gln210Glu)
c.595C>G (p.Gln199Glu)
3g.189864286C>TCA355753297TP63c.634C>T (p.Gln212Ter)
c.352C>T (p.Gln118Ter)
c.97C>T (p.Gln33Ter)
n.458C>T
c.583C>T (p.Gln195Ter)
c.631C>T (p.Gln211Ter)
c.628C>T (p.Gln210Ter)
c.595C>T (p.Gln199Ter)
3g.189864287A>CCA355753299TP63c.635A>C (p.Gln212Pro)
c.353A>C (p.Gln118Pro)
c.98A>C (p.Gln33Pro)
n.459A>C
c.584A>C (p.Gln195Pro)
c.632A>C (p.Gln211Pro)
c.629A>C (p.Gln210Pro)
c.596A>C (p.Gln199Pro)
3g.189864287A>GCA355753300TP63c.635A>G (p.Gln212Arg)
c.353A>G (p.Gln118Arg)
c.98A>G (p.Gln33Arg)
n.459A>G
c.584A>G (p.Gln195Arg)
c.632A>G (p.Gln211Arg)
c.629A>G (p.Gln210Arg)
c.596A>G (p.Gln199Arg)
gnomAD v4
3g.189864287A>TCA355753302TP63c.635A>T (p.Gln212Leu)
c.353A>T (p.Gln118Leu)
c.98A>T (p.Gln33Leu)
n.459A>T
c.584A>T (p.Gln195Leu)
c.632A>T (p.Gln211Leu)
c.629A>T (p.Gln210Leu)
c.596A>T (p.Gln199Leu)
3g.189864288G>ACA437412881TP63c.636G>A (p.Gln212=)
c.354G>A (p.Gln118=)
c.99G>A (p.Gln33=)
n.460G>A
c.585G>A (p.Gln195=)
c.633G>A (p.Gln211=)
c.630G>A (p.Gln210=)
c.597G>A (p.Gln199=)
3g.189864288G>CCA355753303TP63c.636G>C (p.Gln212His)
c.354G>C (p.Gln118His)
c.99G>C (p.Gln33His)
n.460G>C
c.585G>C (p.Gln195His)
c.633G>C (p.Gln211His)
c.630G>C (p.Gln210His)
c.597G>C (p.Gln199His)
dbSNP
3g.189864288G=CA1428525417TP63c.636G= (p.Gln212=)
c.354G= (p.Gln118=)
c.99G= (p.Gln33=)
n.460G=
c.585G= (p.Gln195=)
c.633G= (p.Gln211=)
c.630G= (p.Gln210=)
c.597G= (p.Gln199=)
3g.189864288G>TCA355753304TP63c.636G>T (p.Gln212His)
c.354G>T (p.Gln118His)
c.99G>T (p.Gln33His)
n.460G>T
c.585G>T (p.Gln195His)
c.633G>T (p.Gln211His)
c.630G>T (p.Gln210His)
c.597G>T (p.Gln199His)
3g.189864289A=CA1428525418TP63c.637A= (p.Ile213=)
c.355A= (p.Ile119=)
c.100A= (p.Ile34=)
n.461A=
c.586A= (p.Ile196=)
c.634A= (p.Ile212=)
c.631A= (p.Ile211=)
c.598A= (p.Ile200=)
3g.189864289A>CCA355753306TP63c.637A>C (p.Ile213Leu)
c.355A>C (p.Ile119Leu)
c.100A>C (p.Ile34Leu)
n.461A>C
c.586A>C (p.Ile196Leu)
c.634A>C (p.Ile212Leu)
c.631A>C (p.Ile211Leu)
c.598A>C (p.Ile200Leu)
3g.189864289A>GCA355753309TP63c.637A>G (p.Ile213Val)
c.355A>G (p.Ile119Val)
c.100A>G (p.Ile34Val)
n.461A>G
c.586A>G (p.Ile196Val)
c.634A>G (p.Ile212Val)
c.631A>G (p.Ile211Val)
c.598A>G (p.Ile200Val)
dbSNP
3g.189864289A>TCA355753307TP63c.637A>T (p.Ile213Phe)
c.355A>T (p.Ile119Phe)
c.100A>T (p.Ile34Phe)
n.461A>T
c.586A>T (p.Ile196Phe)
c.634A>T (p.Ile212Phe)
c.631A>T (p.Ile211Phe)
c.598A>T (p.Ile200Phe)
COSMIC
3g.189864290T>ACA355753310TP63c.638T>A (p.Ile213Asn)
c.356T>A (p.Ile119Asn)
c.101T>A (p.Ile34Asn)
n.462T>A
c.587T>A (p.Ile196Asn)
c.635T>A (p.Ile212Asn)
c.632T>A (p.Ile211Asn)
c.599T>A (p.Ile200Asn)
3g.189864290T>CCA355753312TP63c.638T>C (p.Ile213Thr)
c.356T>C (p.Ile119Thr)
c.101T>C (p.Ile34Thr)
n.462T>C
c.587T>C (p.Ile196Thr)
c.635T>C (p.Ile212Thr)
c.632T>C (p.Ile211Thr)
c.599T>C (p.Ile200Thr)
3g.189864290T>GCA355753313TP63c.638T>G (p.Ile213Ser)
c.356T>G (p.Ile119Ser)
c.101T>G (p.Ile34Ser)
n.462T>G
c.587T>G (p.Ile196Ser)
c.635T>G (p.Ile212Ser)
c.632T>G (p.Ile211Ser)
c.599T>G (p.Ile200Ser)
3g.189864291C>ACA437412882TP63c.639C>A (p.Ile213=)
c.357C>A (p.Ile119=)
c.102C>A (p.Ile34=)
n.463C>A
c.588C>A (p.Ile196=)
c.636C>A (p.Ile212=)
c.633C>A (p.Ile211=)
c.600C>A (p.Ile200=)
3g.189864291C>GCA355753315TP63c.639C>G (p.Ile213Met)
c.357C>G (p.Ile119Met)
c.102C>G (p.Ile34Met)
n.463C>G
c.588C>G (p.Ile196Met)
c.636C>G (p.Ile212Met)
c.633C>G (p.Ile211Met)
c.600C>G (p.Ile200Met)
3g.189864291C>TCA437412883TP63c.639C>T (p.Ile213=)
c.357C>T (p.Ile119=)
c.102C>T (p.Ile34=)
n.463C>T
c.588C>T (p.Ile196=)
c.636C>T (p.Ile212=)
c.633C>T (p.Ile211=)
c.600C>T (p.Ile200=)
3g.189864292A>CCA355753317TP63c.640A>C (p.Lys214Gln)
c.358A>C (p.Lys120Gln)
c.103A>C (p.Lys35Gln)
n.464A>C
c.589A>C (p.Lys197Gln)
c.637A>C (p.Lys213Gln)
c.634A>C (p.Lys212Gln)
c.601A>C (p.Lys201Gln)
3g.189864292A>GCA355753320TP63c.640A>G (p.Lys214Glu)
c.358A>G (p.Lys120Glu)
c.103A>G (p.Lys35Glu)
n.464A>G
c.589A>G (p.Lys197Glu)
c.637A>G (p.Lys213Glu)
c.634A>G (p.Lys212Glu)
c.601A>G (p.Lys201Glu)
3g.189864292A>TCA355753318TP63c.640A>T (p.Lys214Ter)
c.358A>T (p.Lys120Ter)
c.103A>T (p.Lys35Ter)
n.464A>T
c.589A>T (p.Lys197Ter)
c.637A>T (p.Lys213Ter)
c.634A>T (p.Lys212Ter)
c.601A>T (p.Lys201Ter)
3g.189864293A>CCA355753321TP63c.641A>C (p.Lys214Thr)
c.359A>C (p.Lys120Thr)
c.104A>C (p.Lys35Thr)
n.465A>C
c.590A>C (p.Lys197Thr)
c.638A>C (p.Lys213Thr)
c.635A>C (p.Lys212Thr)
c.602A>C (p.Lys201Thr)
3g.189864293A>GCA355753322TP63c.641A>G (p.Lys214Arg)
c.359A>G (p.Lys120Arg)
c.104A>G (p.Lys35Arg)
n.465A>G
c.590A>G (p.Lys197Arg)
c.638A>G (p.Lys213Arg)
c.635A>G (p.Lys212Arg)
c.602A>G (p.Lys201Arg)
3g.189864293A>TCA355753324TP63c.641A>T (p.Lys214Met)
c.359A>T (p.Lys120Met)
c.104A>T (p.Lys35Met)
n.465A>T
c.590A>T (p.Lys197Met)
c.638A>T (p.Lys213Met)
c.635A>T (p.Lys212Met)
c.602A>T (p.Lys201Met)
3g.189864294G>ACA437412884TP63c.642G>A (p.Lys214=)
c.360G>A (p.Lys120=)
c.105G>A (p.Lys35=)
n.466G>A
c.591G>A (p.Lys197=)
c.639G>A (p.Lys213=)
c.636G>A (p.Lys212=)
c.603G>A (p.Lys201=)
COSMIC COSMIC COSMIC
3g.189864294G>CCA355753326TP63c.642G>C (p.Lys214Asn)
c.360G>C (p.Lys120Asn)
c.105G>C (p.Lys35Asn)
n.466G>C
c.591G>C (p.Lys197Asn)
c.639G>C (p.Lys213Asn)
c.636G>C (p.Lys212Asn)
c.603G>C (p.Lys201Asn)
3g.189864294G>TCA355753327TP63c.642G>T (p.Lys214Asn)
c.360G>T (p.Lys120Asn)
c.105G>T (p.Lys35Asn)
n.466G>T
c.591G>T (p.Lys197Asn)
c.639G>T (p.Lys213Asn)
c.636G>T (p.Lys212Asn)
c.603G>T (p.Lys201Asn)
3g.189864295G>ACA355753329TP63c.643G>A (p.Val215Met)
c.361G>A (p.Val121Met)
c.106G>A (p.Val36Met)
n.467G>A
c.592G>A (p.Val198Met)
c.640G>A (p.Val214Met)
c.637G>A (p.Val213Met)
c.604G>A (p.Val202Met)
3g.189864295G>CCA355753331TP63c.643G>C (p.Val215Leu)
c.361G>C (p.Val121Leu)
c.106G>C (p.Val36Leu)
n.467G>C
c.592G>C (p.Val198Leu)
c.640G>C (p.Val214Leu)
c.637G>C (p.Val213Leu)
c.604G>C (p.Val202Leu)
3g.189864295G>TCA355753332TP63c.643G>T (p.Val215Leu)
c.361G>T (p.Val121Leu)
c.106G>T (p.Val36Leu)
n.467G>T
c.592G>T (p.Val198Leu)
c.640G>T (p.Val214Leu)
c.637G>T (p.Val213Leu)
c.604G>T (p.Val202Leu)
ClinVar
3g.189864296T>ACA355753334TP63c.644T>A (p.Val215Glu)
c.362T>A (p.Val121Glu)
c.107T>A (p.Val36Glu)
n.468T>A
c.593T>A (p.Val198Glu)
c.641T>A (p.Val214Glu)
c.638T>A (p.Val213Glu)
c.605T>A (p.Val202Glu)
3g.189864296T>CCA355753335TP63c.644T>C (p.Val215Ala)
c.362T>C (p.Val121Ala)
c.107T>C (p.Val36Ala)
n.468T>C
c.593T>C (p.Val198Ala)
c.641T>C (p.Val214Ala)
c.638T>C (p.Val213Ala)
c.605T>C (p.Val202Ala)
3g.189864296T>GCA355753337TP63c.644T>G (p.Val215Gly)
c.362T>G (p.Val121Gly)
c.107T>G (p.Val36Gly)
n.468T>G
c.593T>G (p.Val198Gly)
c.641T>G (p.Val214Gly)
c.638T>G (p.Val213Gly)
c.605T>G (p.Val202Gly)
3g.189864297G>ACA437412887TP63c.645G>A (p.Val215=)
c.363G>A (p.Val121=)
c.108G>A (p.Val36=)
n.469G>A
c.594G>A (p.Val198=)
c.642G>A (p.Val214=)
c.639G>A (p.Val213=)
c.606G>A (p.Val202=)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.189864297G>CCA437412886TP63c.645G>C (p.Val215=)
c.363G>C (p.Val121=)
c.108G>C (p.Val36=)
n.469G>C
c.594G>C (p.Val198=)
c.642G>C (p.Val214=)
c.639G>C (p.Val213=)
c.606G>C (p.Val202=)
3g.189864297G=CA1428525419TP63c.645G= (p.Val215=)
c.363G= (p.Val121=)
c.108G= (p.Val36=)
n.469G=
c.594G= (p.Val198=)
c.642G= (p.Val214=)
c.639G= (p.Val213=)
c.606G= (p.Val202=)
3g.189864297G>TCA437412885TP63c.645G>T (p.Val215=)
c.363G>T (p.Val121=)
c.108G>T (p.Val36=)
n.469G>T
c.594G>T (p.Val198=)
c.642G>T (p.Val214=)
c.639G>T (p.Val213=)
c.606G>T (p.Val202=)
gnomAD v4
3g.189864298A=CA1428525420TP63c.646A= (p.Met216=)
c.364A= (p.Met122=)
c.109A= (p.Met37=)
n.470A=
c.595A= (p.Met199=)
c.643A= (p.Met215=)
c.640A= (p.Met214=)
c.607A= (p.Met203=)
3g.189864298A>CCA355753339TP63c.646A>C (p.Met216Leu)
c.364A>C (p.Met122Leu)
c.109A>C (p.Met37Leu)
n.470A>C
c.595A>C (p.Met199Leu)
c.643A>C (p.Met215Leu)
c.640A>C (p.Met214Leu)
c.607A>C (p.Met203Leu)
3g.189864298A>GCA355753341TP63c.646A>G (p.Met216Val)
c.364A>G (p.Met122Val)
c.109A>G (p.Met37Val)
n.470A>G
c.595A>G (p.Met199Val)
c.643A>G (p.Met215Val)
c.640A>G (p.Met214Val)
c.607A>G (p.Met203Val)
dbSNP gnomAD v2
3g.189864298A>TCA2752216TP63c.646A>T (p.Met216Leu)
c.364A>T (p.Met122Leu)
c.109A>T (p.Met37Leu)
n.470A>T
c.595A>T (p.Met199Leu)
c.643A>T (p.Met215Leu)
c.640A>T (p.Met214Leu)
c.607A>T (p.Met203Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.189864299T>ACA355753343TP63c.647T>A (p.Met216Lys)
c.365T>A (p.Met122Lys)
c.110T>A (p.Met37Lys)
n.471T>A
c.596T>A (p.Met199Lys)
c.644T>A (p.Met215Lys)
c.641T>A (p.Met214Lys)
c.608T>A (p.Met203Lys)
3g.189864299T>CCA355753344TP63c.647T>C (p.Met216Thr)
c.365T>C (p.Met122Thr)
c.110T>C (p.Met37Thr)
n.471T>C
c.596T>C (p.Met199Thr)
c.644T>C (p.Met215Thr)
c.641T>C (p.Met214Thr)
c.608T>C (p.Met203Thr)
3g.189864299T>GCA355753346TP63c.647T>G (p.Met216Arg)
c.365T>G (p.Met122Arg)
c.110T>G (p.Met37Arg)
n.471T>G
c.596T>G (p.Met199Arg)
c.644T>G (p.Met215Arg)
c.641T>G (p.Met214Arg)
c.608T>G (p.Met203Arg)
dbSNP
3g.189864299T=CA1428525421TP63c.647T= (p.Met216=)
c.365T= (p.Met122=)
c.110T= (p.Met37=)
n.471T=
c.596T= (p.Met199=)
c.644T= (p.Met215=)
c.641T= (p.Met214=)
c.608T= (p.Met203=)
3g.189864300G>ACA2752218TP63c.648G>A (p.Met216Ile)
c.366G>A (p.Met122Ile)
c.111G>A (p.Met37Ile)
n.472G>A
c.597G>A (p.Met199Ile)
c.645G>A (p.Met215Ile)
c.642G>A (p.Met214Ile)
c.609G>A (p.Met203Ile)
dbSNP ExAC gnomAD v2 COSMIC COSMIC COSMIC
3g.189864300G>CCA2752217TP63c.648G>C (p.Met216Ile)
c.366G>C (p.Met122Ile)
c.111G>C (p.Met37Ile)
n.472G>C
c.597G>C (p.Met199Ile)
c.645G>C (p.Met215Ile)
c.642G>C (p.Met214Ile)
c.609G>C (p.Met203Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189864300G=CA1428525422TP63c.648G= (p.Met216=)
c.366G= (p.Met122=)
c.111G= (p.Met37=)
n.472G=
c.597G= (p.Met199=)
c.645G= (p.Met215=)
c.642G= (p.Met214=)
c.609G= (p.Met203=)
3g.189864300G>TCA355753349TP63c.648G>T (p.Met216Ile)
c.366G>T (p.Met122Ile)
c.111G>T (p.Met37Ile)
n.472G>T
c.597G>T (p.Met199Ile)
c.645G>T (p.Met215Ile)
c.642G>T (p.Met214Ile)
c.609G>T (p.Met203Ile)
3g.189864301A>CCA355753351TP63c.649A>C (p.Thr217Pro)
c.367A>C (p.Thr123Pro)
c.112A>C (p.Thr38Pro)
n.473A>C
c.598A>C (p.Thr200Pro)
c.646A>C (p.Thr216Pro)
c.643A>C (p.Thr215Pro)
c.610A>C (p.Thr204Pro)
3g.189864301A>GCA355753352TP63c.649A>G (p.Thr217Ala)
c.367A>G (p.Thr123Ala)
c.112A>G (p.Thr38Ala)
n.473A>G
c.598A>G (p.Thr200Ala)
c.646A>G (p.Thr216Ala)
c.643A>G (p.Thr215Ala)
c.610A>G (p.Thr204Ala)
3g.189864301A>TCA355753353TP63c.649A>T (p.Thr217Ser)
c.367A>T (p.Thr123Ser)
c.112A>T (p.Thr38Ser)
n.473A>T
c.598A>T (p.Thr200Ser)
c.646A>T (p.Thr216Ser)
c.643A>T (p.Thr215Ser)
c.610A>T (p.Thr204Ser)
3g.189864302C>ACA355753355TP63c.650C>A (p.Thr217Asn)
c.368C>A (p.Thr123Asn)
c.113C>A (p.Thr38Asn)
n.474C>A
c.599C>A (p.Thr200Asn)
c.647C>A (p.Thr216Asn)
c.644C>A (p.Thr215Asn)
c.611C>A (p.Thr204Asn)
3g.189864302C>GCA355753357TP63c.650C>G (p.Thr217Ser)
c.368C>G (p.Thr123Ser)
c.113C>G (p.Thr38Ser)
n.474C>G
c.599C>G (p.Thr200Ser)
c.647C>G (p.Thr216Ser)
c.644C>G (p.Thr215Ser)
c.611C>G (p.Thr204Ser)
3g.189864302C>TCA355753359TP63c.650C>T (p.Thr217Ile)
c.368C>T (p.Thr123Ile)
c.113C>T (p.Thr38Ile)
n.474C>T
c.599C>T (p.Thr200Ile)
c.647C>T (p.Thr216Ile)
c.644C>T (p.Thr215Ile)
c.611C>T (p.Thr204Ile)
3g.189864303C>ACA437412889TP63c.651C>A (p.Thr217=)
c.369C>A (p.Thr123=)
c.114C>A (p.Thr38=)
n.475C>A
c.600C>A (p.Thr200=)
c.648C>A (p.Thr216=)
c.645C>A (p.Thr215=)
c.612C>A (p.Thr204=)
3g.189864303C=CA1428525423TP63c.651C= (p.Thr217=)
c.369C= (p.Thr123=)
c.114C= (p.Thr38=)
n.475C=
c.600C= (p.Thr200=)
c.648C= (p.Thr216=)
c.645C= (p.Thr215=)
c.612C= (p.Thr204=)
3g.189864303C>GCA437412890TP63c.651C>G (p.Thr217=)
c.369C>G (p.Thr123=)
c.114C>G (p.Thr38=)
n.475C>G
c.600C>G (p.Thr200=)
c.648C>G (p.Thr216=)
c.645C>G (p.Thr215=)
c.612C>G (p.Thr204=)
3g.189864303C>TCA2752219TP63c.651C>T (p.Thr217=)
c.369C>T (p.Thr123=)
c.114C>T (p.Thr38=)
n.475C>T
c.600C>T (p.Thr200=)
c.648C>T (p.Thr216=)
c.645C>T (p.Thr215=)
c.612C>T (p.Thr204=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.189864303_189864309delinsCCCACCTCA1428525424TP63c.651_657delinsCCCACCT (p.Thr217=)
c.369_375delinsCCCACCT (p.Thr123=)
c.114_120delinsCCCACCT (p.Thr38=)
n.475_481delinsCCCACCT
c.600_606delinsCCCACCT (p.Thr200=)
c.648_654delinsCCCACCT (p.Thr216=)
c.645_651delinsCCCACCT (p.Thr215=)
c.612_618delinsCCCACCT (p.Thr204=)
3g.189864304C>ACA355753360TP63c.652C>A (p.Pro218Thr)
c.370C>A (p.Pro124Thr)
c.115C>A (p.Pro39Thr)
n.476C>A
c.601C>A (p.Pro201Thr)
c.649C>A (p.Pro217Thr)
c.646C>A (p.Pro216Thr)
c.613C>A (p.Pro205Thr)
3g.189864304C>GCA355753363TP63c.652C>G (p.Pro218Ala)
c.370C>G (p.Pro124Ala)
c.115C>G (p.Pro39Ala)
n.476C>G
c.601C>G (p.Pro201Ala)
c.649C>G (p.Pro217Ala)
c.646C>G (p.Pro216Ala)
c.613C>G (p.Pro205Ala)
gnomAD v4
3g.189864304C>TCA355753361TP63c.652C>T (p.Pro218Ser)
c.370C>T (p.Pro124Ser)
c.115C>T (p.Pro39Ser)
n.476C>T
c.601C>T (p.Pro201Ser)
c.649C>T (p.Pro217Ser)
c.646C>T (p.Pro216Ser)
c.613C>T (p.Pro205Ser)
3g.189864306_189864311delCA904206640TP63c.654_659del (p.Pro219_Pro220del)
c.372_377del (p.Pro125_Pro126del)
c.117_122del (p.Pro40_Pro41del)
n.478_483del
c.603_608del (p.Pro202_Pro203del)
c.651_656del (p.Pro218_Pro219del)
c.648_653del (p.Pro217_Pro218del)
c.615_620del (p.Pro206_Pro207del)
dbSNP
3g.189864305C>ACA355753364TP63c.653C>A (p.Pro218Gln)
c.371C>A (p.Pro124Gln)
c.116C>A (p.Pro39Gln)
n.477C>A
c.602C>A (p.Pro201Gln)
c.650C>A (p.Pro217Gln)
c.647C>A (p.Pro216Gln)
c.614C>A (p.Pro205Gln)
3g.189864305C>GCA355753366TP63c.653C>G (p.Pro218Arg)
c.371C>G (p.Pro124Arg)
c.116C>G (p.Pro39Arg)
n.477C>G
c.602C>G (p.Pro201Arg)
c.650C>G (p.Pro217Arg)
c.647C>G (p.Pro216Arg)
c.614C>G (p.Pro205Arg)
3g.189864305C>TCA355753367TP63c.653C>T (p.Pro218Leu)
c.371C>T (p.Pro124Leu)
c.116C>T (p.Pro39Leu)
n.477C>T
c.602C>T (p.Pro201Leu)
c.650C>T (p.Pro217Leu)
c.647C>T (p.Pro216Leu)
c.614C>T (p.Pro205Leu)
3g.189864306A=CA1428525425TP63c.654A= (p.Pro218=)
c.372A= (p.Pro124=)
c.117A= (p.Pro39=)
n.478A=
c.603A= (p.Pro201=)
c.651A= (p.Pro217=)
c.648A= (p.Pro216=)
c.615A= (p.Pro205=)
3g.189864306A>CCA437412891TP63c.654A>C (p.Pro218=)
c.372A>C (p.Pro124=)
c.117A>C (p.Pro39=)
n.478A>C
c.603A>C (p.Pro201=)
c.651A>C (p.Pro217=)
c.648A>C (p.Pro216=)
c.615A>C (p.Pro205=)
dbSNP
3g.189864306A>GCA2752220TP63c.654A>G (p.Pro218=)
c.372A>G (p.Pro124=)
c.117A>G (p.Pro39=)
n.478A>G
c.603A>G (p.Pro201=)
c.651A>G (p.Pro217=)
c.648A>G (p.Pro216=)
c.615A>G (p.Pro205=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189864306A>TCA437412892TP63c.654A>T (p.Pro218=)
c.372A>T (p.Pro124=)
c.117A>T (p.Pro39=)
n.478A>T
c.603A>T (p.Pro201=)
c.651A>T (p.Pro217=)
c.648A>T (p.Pro216=)
c.615A>T (p.Pro205=)
3g.189864307C>ACA355753369TP63c.655C>A (p.Pro219Thr)
c.373C>A (p.Pro125Thr)
c.118C>A (p.Pro40Thr)
n.479C>A
c.604C>A (p.Pro202Thr)
c.652C>A (p.Pro218Thr)
c.649C>A (p.Pro217Thr)
c.616C>A (p.Pro206Thr)
3g.189864307C>GCA355753371TP63c.655C>G (p.Pro219Ala)
c.373C>G (p.Pro125Ala)
c.118C>G (p.Pro40Ala)
n.479C>G
c.604C>G (p.Pro202Ala)
c.652C>G (p.Pro218Ala)
c.649C>G (p.Pro217Ala)
c.616C>G (p.Pro206Ala)
3g.189864307C>TCA355753372TP63c.655C>T (p.Pro219Ser)
c.373C>T (p.Pro125Ser)
c.118C>T (p.Pro40Ser)
n.479C>T
c.604C>T (p.Pro202Ser)
c.652C>T (p.Pro218Ser)
c.649C>T (p.Pro217Ser)
c.616C>T (p.Pro206Ser)
3g.189864308C>ACA355753374TP63c.656C>A (p.Pro219His)
c.374C>A (p.Pro125His)
c.119C>A (p.Pro40His)
n.480C>A
c.605C>A (p.Pro202His)
c.653C>A (p.Pro218His)
c.650C>A (p.Pro217His)
c.617C>A (p.Pro206His)
3g.189864308C>GCA355753375TP63c.656C>G (p.Pro219Arg)
c.374C>G (p.Pro125Arg)
c.119C>G (p.Pro40Arg)
n.480C>G
c.605C>G (p.Pro202Arg)
c.653C>G (p.Pro218Arg)
c.650C>G (p.Pro217Arg)
c.617C>G (p.Pro206Arg)
gnomAD v4
3g.189864308C>TCA355753377TP63c.656C>T (p.Pro219Leu)
c.374C>T (p.Pro125Leu)
c.119C>T (p.Pro40Leu)
n.480C>T
c.605C>T (p.Pro202Leu)
c.653C>T (p.Pro218Leu)
c.650C>T (p.Pro217Leu)
c.617C>T (p.Pro206Leu)
ClinVar COSMIC COSMIC COSMIC
3g.189864309T>ACA437412893TP63c.657T>A (p.Pro219=)
c.375T>A (p.Pro125=)
c.120T>A (p.Pro40=)
n.481T>A
c.606T>A (p.Pro202=)
c.654T>A (p.Pro218=)
c.651T>A (p.Pro217=)
c.618T>A (p.Pro206=)
3g.189864309T>CCA437412894TP63c.657T>C (p.Pro219=)
c.375T>C (p.Pro125=)
c.120T>C (p.Pro40=)
n.481T>C
c.606T>C (p.Pro202=)
c.654T>C (p.Pro218=)
c.651T>C (p.Pro217=)
c.618T>C (p.Pro206=)
3g.189864309T>GCA437412895TP63c.657T>G (p.Pro219=)
c.375T>G (p.Pro125=)
c.120T>G (p.Pro40=)
n.481T>G
c.606T>G (p.Pro202=)
c.654T>G (p.Pro218=)
c.651T>G (p.Pro217=)
c.618T>G (p.Pro206=)
3g.189864310C>ACA355753380TP63c.658C>A (p.Pro220Thr)
c.376C>A (p.Pro126Thr)
c.121C>A (p.Pro41Thr)
n.482C>A
c.607C>A (p.Pro203Thr)
c.655C>A (p.Pro219Thr)
c.652C>A (p.Pro218Thr)
c.619C>A (p.Pro207Thr)
3g.189864310C=CA1428525426TP63c.658C= (p.Pro220=)
c.376C= (p.Pro126=)
c.121C= (p.Pro41=)
n.482C=
c.607C= (p.Pro203=)
c.655C= (p.Pro219=)
c.652C= (p.Pro218=)
c.619C= (p.Pro207=)
3g.189864310C>GCA2752221TP63c.658C>G (p.Pro220Ala)
c.376C>G (p.Pro126Ala)
c.121C>G (p.Pro41Ala)
n.482C>G
c.607C>G (p.Pro203Ala)
c.655C>G (p.Pro219Ala)
c.652C>G (p.Pro218Ala)
c.619C>G (p.Pro207Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.189864310C>TCA355753379TP63c.658C>T (p.Pro220Ser)
c.376C>T (p.Pro126Ser)
c.121C>T (p.Pro41Ser)
n.482C>T
c.607C>T (p.Pro203Ser)
c.655C>T (p.Pro219Ser)
c.652C>T (p.Pro218Ser)
c.619C>T (p.Pro207Ser)
dbSNP
3g.189864311C>ACA355753383TP63c.659C>A (p.Pro220His)
c.377C>A (p.Pro126His)
c.122C>A (p.Pro41His)
n.483C>A
c.608C>A (p.Pro203His)
c.656C>A (p.Pro219His)
c.653C>A (p.Pro218His)
c.620C>A (p.Pro207His)
3g.189864311C>GCA355753384TP63c.659C>G (p.Pro220Arg)
c.377C>G (p.Pro126Arg)
c.122C>G (p.Pro41Arg)
n.483C>G
c.608C>G (p.Pro203Arg)
c.656C>G (p.Pro219Arg)
c.653C>G (p.Pro218Arg)
c.620C>G (p.Pro207Arg)
3g.189864311C>TCA355753386TP63c.659C>T (p.Pro220Leu)
c.377C>T (p.Pro126Leu)
c.122C>T (p.Pro41Leu)
n.483C>T
c.608C>T (p.Pro203Leu)
c.656C>T (p.Pro219Leu)
c.653C>T (p.Pro218Leu)
c.620C>T (p.Pro207Leu)
gnomAD v4
3g.189864312T>ACA437412896TP63c.660T>A (p.Pro220=)
c.378T>A (p.Pro126=)
c.123T>A (p.Pro41=)
n.484T>A
c.609T>A (p.Pro203=)
c.657T>A (p.Pro219=)
c.654T>A (p.Pro218=)
c.621T>A (p.Pro207=)
gnomAD v4
3g.189864312T>CCA437412897TP63c.660T>C (p.Pro220=)
c.378T>C (p.Pro126=)
c.123T>C (p.Pro41=)
n.484T>C
c.609T>C (p.Pro203=)
c.657T>C (p.Pro219=)
c.654T>C (p.Pro218=)
c.621T>C (p.Pro207=)
3g.189864312T>GCA437412898TP63c.660T>G (p.Pro220=)
c.378T>G (p.Pro126=)
c.123T>G (p.Pro41=)
n.484T>G
c.609T>G (p.Pro203=)
c.657T>G (p.Pro219=)
c.654T>G (p.Pro218=)
c.621T>G (p.Pro207=)
3g.189864313C>ACA355753387TP63c.661C>A (p.Gln221Lys)
c.379C>A (p.Gln127Lys)
c.124C>A (p.Gln42Lys)
n.485C>A
c.610C>A (p.Gln204Lys)
c.658C>A (p.Gln220Lys)
c.655C>A (p.Gln219Lys)
c.622C>A (p.Gln208Lys)
3g.189864313C>GCA355753388TP63c.661C>G (p.Gln221Glu)
c.379C>G (p.Gln127Glu)
c.124C>G (p.Gln42Glu)
n.485C>G
c.610C>G (p.Gln204Glu)
c.658C>G (p.Gln220Glu)
c.655C>G (p.Gln219Glu)
c.622C>G (p.Gln208Glu)
3g.189864313C>TCA355753390TP63c.661C>T (p.Gln221Ter)
c.379C>T (p.Gln127Ter)
c.124C>T (p.Gln42Ter)
n.485C>T
c.610C>T (p.Gln204Ter)
c.658C>T (p.Gln220Ter)
c.655C>T (p.Gln219Ter)
c.622C>T (p.Gln208Ter)
COSMIC COSMIC COSMIC
3g.189864314A>CCA355753394TP63c.662A>C (p.Gln221Pro)
c.380A>C (p.Gln127Pro)
c.125A>C (p.Gln42Pro)
n.486A>C
c.611A>C (p.Gln204Pro)
c.659A>C (p.Gln220Pro)
c.656A>C (p.Gln219Pro)
c.623A>C (p.Gln208Pro)
3g.189864314A>GCA355753391TP63c.662A>G (p.Gln221Arg)
c.380A>G (p.Gln127Arg)
c.125A>G (p.Gln42Arg)
n.486A>G
c.611A>G (p.Gln204Arg)
c.659A>G (p.Gln220Arg)
c.656A>G (p.Gln219Arg)
c.623A>G (p.Gln208Arg)
3g.189864314A>TCA355753392TP63c.662A>T (p.Gln221Leu)
c.380A>T (p.Gln127Leu)
c.125A>T (p.Gln42Leu)
n.486A>T
c.611A>T (p.Gln204Leu)
c.659A>T (p.Gln220Leu)
c.656A>T (p.Gln219Leu)
c.623A>T (p.Gln208Leu)
3g.189864315G>ACA437412899TP63c.663G>A (p.Gln221=)
c.381G>A (p.Gln127=)
c.126G>A (p.Gln42=)
n.487G>A
c.612G>A (p.Gln204=)
c.660G>A (p.Gln220=)
c.657G>A (p.Gln219=)
c.624G>A (p.Gln208=)
3g.189864315G>CCA355753395TP63c.663G>C (p.Gln221His)
c.381G>C (p.Gln127His)
c.126G>C (p.Gln42His)
n.487G>C
c.612G>C (p.Gln204His)
c.660G>C (p.Gln220His)
c.657G>C (p.Gln219His)
c.624G>C (p.Gln208His)
3g.189864315G>TCA355753397TP63c.663G>T (p.Gln221His)
c.381G>T (p.Gln127His)
c.126G>T (p.Gln42His)
n.487G>T
c.612G>T (p.Gln204His)
c.660G>T (p.Gln220His)
c.657G>T (p.Gln219His)
c.624G>T (p.Gln208His)
3g.189864316G>ACA355753398TP63c.664G>A (p.Gly222Arg)
c.382G>A (p.Gly128Arg)
c.127G>A (p.Gly43Arg)
n.488G>A
c.613G>A (p.Gly205Arg)
c.661G>A (p.Gly221Arg)
c.658G>A (p.Gly220Arg)
c.625G>A (p.Gly209Arg)
3g.189864316G>CCA355753400TP63c.664G>C (p.Gly222Arg)
c.382G>C (p.Gly128Arg)
c.127G>C (p.Gly43Arg)
n.488G>C
c.613G>C (p.Gly205Arg)
c.661G>C (p.Gly221Arg)
c.658G>C (p.Gly220Arg)
c.625G>C (p.Gly209Arg)
3g.189864316G>TCA355753402TP63c.664G>T (p.Gly222Ter)
c.382G>T (p.Gly128Ter)
c.127G>T (p.Gly43Ter)
n.488G>T
c.613G>T (p.Gly205Ter)
c.661G>T (p.Gly221Ter)
c.658G>T (p.Gly220Ter)
c.625G>T (p.Gly209Ter)
3g.189864317G>ACA355753406TP63c.665G>A (p.Gly222Glu)
c.383G>A (p.Gly128Glu)
c.128G>A (p.Gly43Glu)
n.489G>A
c.614G>A (p.Gly205Glu)
c.662G>A (p.Gly221Glu)
c.659G>A (p.Gly220Glu)
c.626G>A (p.Gly209Glu)
COSMIC COSMIC COSMIC
3g.189864317G>CCA355753403TP63c.665G>C (p.Gly222Ala)
c.383G>C (p.Gly128Ala)
c.128G>C (p.Gly43Ala)
n.489G>C
c.614G>C (p.Gly205Ala)
c.662G>C (p.Gly221Ala)
c.659G>C (p.Gly220Ala)
c.626G>C (p.Gly209Ala)
3g.189864317G>TCA355753405TP63c.665G>T (p.Gly222Val)
c.383G>T (p.Gly128Val)
c.128G>T (p.Gly43Val)
n.489G>T
c.614G>T (p.Gly205Val)
c.662G>T (p.Gly221Val)
c.659G>T (p.Gly220Val)
c.626G>T (p.Gly209Val)
3g.189864318A>CCA437412900TP63c.666A>C (p.Gly222=)
c.384A>C (p.Gly128=)
c.129A>C (p.Gly43=)
n.490A>C
c.615A>C (p.Gly205=)
c.663A>C (p.Gly221=)
c.660A>C (p.Gly220=)
c.627A>C (p.Gly209=)
3g.189864318A>GCA437412901TP63c.666A>G (p.Gly222=)
c.384A>G (p.Gly128=)
c.129A>G (p.Gly43=)
n.490A>G
c.615A>G (p.Gly205=)
c.663A>G (p.Gly221=)
c.660A>G (p.Gly220=)
c.627A>G (p.Gly209=)
3g.189864318A>TCA437412902TP63c.666A>T (p.Gly222=)
c.384A>T (p.Gly128=)
c.129A>T (p.Gly43=)
n.490A>T
c.615A>T (p.Gly205=)
c.663A>T (p.Gly221=)
c.660A>T (p.Gly220=)
c.627A>T (p.Gly209=)
3g.189864319G>ACA355753407TP63c.667G>A (p.Ala223Thr)
c.385G>A (p.Ala129Thr)
c.130G>A (p.Ala44Thr)
n.491G>A
c.616G>A (p.Ala206Thr)
c.664G>A (p.Ala222Thr)
c.661G>A (p.Ala221Thr)
c.628G>A (p.Ala210Thr)
dbSNP gnomAD v4
3g.189864319G>CCA355753410TP63c.667G>C (p.Ala223Pro)
c.385G>C (p.Ala129Pro)
c.130G>C (p.Ala44Pro)
n.491G>C
c.616G>C (p.Ala206Pro)
c.664G>C (p.Ala222Pro)
c.661G>C (p.Ala221Pro)
c.628G>C (p.Ala210Pro)
3g.189864319G=CA1428525427TP63c.667G= (p.Ala223=)
c.385G= (p.Ala129=)
c.130G= (p.Ala44=)
n.491G=
c.616G= (p.Ala206=)
c.664G= (p.Ala222=)
c.661G= (p.Ala221=)
c.628G= (p.Ala210=)
3g.189864319G>TCA355753411TP63c.667G>T (p.Ala223Ser)
c.385G>T (p.Ala129Ser)
c.130G>T (p.Ala44Ser)
n.491G>T
c.616G>T (p.Ala206Ser)
c.664G>T (p.Ala222Ser)
c.661G>T (p.Ala221Ser)
c.628G>T (p.Ala210Ser)
3g.189864320C>ACA355753414TP63c.668C>A (p.Ala223Asp)
c.386C>A (p.Ala129Asp)
c.131C>A (p.Ala44Asp)
n.492C>A
c.617C>A (p.Ala206Asp)
c.665C>A (p.Ala222Asp)
c.662C>A (p.Ala221Asp)
c.629C>A (p.Ala210Asp)
3g.189864320C>GCA355753415TP63c.668C>G (p.Ala223Gly)
c.386C>G (p.Ala129Gly)
c.131C>G (p.Ala44Gly)
n.492C>G
c.617C>G (p.Ala206Gly)
c.665C>G (p.Ala222Gly)
c.662C>G (p.Ala221Gly)
c.629C>G (p.Ala210Gly)
3g.189864320C>TCA355753417TP63c.668C>T (p.Ala223Val)
c.386C>T (p.Ala129Val)
c.131C>T (p.Ala44Val)
n.492C>T
c.617C>T (p.Ala206Val)
c.665C>T (p.Ala222Val)
c.662C>T (p.Ala221Val)
c.629C>T (p.Ala210Val)
3g.189864321T>ACA437412903TP63c.669T>A (p.Ala223=)
c.387T>A (p.Ala129=)
c.132T>A (p.Ala44=)
n.493T>A
c.618T>A (p.Ala206=)
c.666T>A (p.Ala222=)
c.663T>A (p.Ala221=)
c.630T>A (p.Ala210=)
gnomAD v4
3g.189864321T>CCA437412904TP63c.669T>C (p.Ala223=)
c.387T>C (p.Ala129=)
c.132T>C (p.Ala44=)
n.493T>C
c.618T>C (p.Ala206=)
c.666T>C (p.Ala222=)
c.663T>C (p.Ala221=)
c.630T>C (p.Ala210=)
gnomAD v4
3g.189864321T>GCA437412905TP63c.669T>G (p.Ala223=)
c.387T>G (p.Ala129=)
c.132T>G (p.Ala44=)
n.493T>G
c.618T>G (p.Ala206=)
c.666T>G (p.Ala222=)
c.663T>G (p.Ala221=)
c.630T>G (p.Ala210=)
3g.189864322G>ACA2752222TP63c.670G>A (p.Val224Ile)
c.388G>A (p.Val130Ile)
c.133G>A (p.Val45Ile)
n.494G>A
c.619G>A (p.Val207Ile)
c.667G>A (p.Val223Ile)
c.664G>A (p.Val222Ile)
c.631G>A (p.Val211Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.189864322G>CCA355753419TP63c.670G>C (p.Val224Leu)
c.388G>C (p.Val130Leu)
c.133G>C (p.Val45Leu)
n.494G>C
c.619G>C (p.Val207Leu)
c.667G>C (p.Val223Leu)
c.664G>C (p.Val222Leu)
c.631G>C (p.Val211Leu)
ClinVar dbSNP
3g.189864322G=CA1428525428TP63c.670G= (p.Val224=)
c.388G= (p.Val130=)
c.133G= (p.Val45=)
n.494G=
c.619G= (p.Val207=)
c.667G= (p.Val223=)
c.664G= (p.Val222=)
c.631G= (p.Val211=)
3g.189864322G>TCA355753421TP63c.670G>T (p.Val224Phe)
c.388G>T (p.Val130Phe)
c.133G>T (p.Val45Phe)
n.494G>T
c.619G>T (p.Val207Phe)
c.667G>T (p.Val223Phe)
c.664G>T (p.Val222Phe)
c.631G>T (p.Val211Phe)
3g.189864323T>ACA355753423TP63c.671T>A (p.Val224Asp)
c.389T>A (p.Val130Asp)
c.134T>A (p.Val45Asp)
n.495T>A
c.620T>A (p.Val207Asp)
c.668T>A (p.Val223Asp)
c.665T>A (p.Val222Asp)
c.632T>A (p.Val211Asp)
3g.189864323T>CCA355753424TP63c.671T>C (p.Val224Ala)
c.389T>C (p.Val130Ala)
c.134T>C (p.Val45Ala)
n.495T>C
c.620T>C (p.Val207Ala)
c.668T>C (p.Val223Ala)
c.665T>C (p.Val222Ala)
c.632T>C (p.Val211Ala)
3g.189864323T>GCA355753426TP63c.671T>G (p.Val224Gly)
c.389T>G (p.Val130Gly)
c.134T>G (p.Val45Gly)
n.495T>G
c.620T>G (p.Val207Gly)
c.668T>G (p.Val223Gly)
c.665T>G (p.Val222Gly)
c.632T>G (p.Val211Gly)
3g.189864324T>ACA437412928TP63c.672T>A (p.Val224=)
c.390T>A (p.Val130=)
c.135T>A (p.Val45=)
n.496T>A
c.621T>A (p.Val207=)
c.669T>A (p.Val223=)
c.666T>A (p.Val222=)
c.633T>A (p.Val211=)
3g.189864324T>CCA437412927TP63c.672T>C (p.Val224=)
c.390T>C (p.Val130=)
c.135T>C (p.Val45=)
n.496T>C
c.621T>C (p.Val207=)
c.669T>C (p.Val223=)
c.666T>C (p.Val222=)
c.633T>C (p.Val211=)
3g.189864324T>GCA437412926TP63c.672T>G (p.Val224=)
c.390T>G (p.Val130=)
c.135T>G (p.Val45=)
n.496T>G
c.621T>G (p.Val207=)
c.669T>G (p.Val223=)
c.666T>G (p.Val222=)
c.633T>G (p.Val211=)
3g.189864325A=CA1428525429TP63c.673A= (p.Ile225=)
c.391A= (p.Ile131=)
c.136A= (p.Ile46=)
n.497A=
c.622A= (p.Ile208=)
c.670A= (p.Ile224=)
c.667A= (p.Ile223=)
c.634A= (p.Ile212=)
3g.189864325A>CCA355753535TP63c.673A>C (p.Ile225Leu)
c.391A>C (p.Ile131Leu)
c.136A>C (p.Ile46Leu)
n.497A>C
c.622A>C (p.Ile208Leu)
c.670A>C (p.Ile224Leu)
c.667A>C (p.Ile223Leu)
c.634A>C (p.Ile212Leu)
3g.189864325A>GCA2752223TP63c.673A>G (p.Ile225Val)
c.391A>G (p.Ile131Val)
c.136A>G (p.Ile46Val)
n.497A>G
c.622A>G (p.Ile208Val)
c.670A>G (p.Ile224Val)
c.667A>G (p.Ile223Val)
c.634A>G (p.Ile212Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189864325A>TCA2752224TP63c.673A>T (p.Ile225Phe)
c.391A>T (p.Ile131Phe)
c.136A>T (p.Ile46Phe)
n.497A>T
c.622A>T (p.Ile208Phe)
c.670A>T (p.Ile224Phe)
c.667A>T (p.Ile223Phe)
c.634A>T (p.Ile212Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.189864326T>ACA355753538TP63c.674T>A (p.Ile225Asn)
c.392T>A (p.Ile131Asn)
c.137T>A (p.Ile46Asn)
n.498T>A
c.623T>A (p.Ile208Asn)
c.671T>A (p.Ile224Asn)
c.668T>A (p.Ile223Asn)
c.635T>A (p.Ile212Asn)
3g.189864326T>CCA2752225TP63c.674T>C (p.Ile225Thr)
c.392T>C (p.Ile131Thr)
c.137T>C (p.Ile46Thr)
n.498T>C
c.623T>C (p.Ile208Thr)
c.671T>C (p.Ile224Thr)
c.668T>C (p.Ile223Thr)
c.635T>C (p.Ile212Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189864326T>GCA355753539TP63c.674T>G (p.Ile225Ser)
c.392T>G (p.Ile131Ser)
c.137T>G (p.Ile46Ser)
n.498T>G
c.623T>G (p.Ile208Ser)
c.671T>G (p.Ile224Ser)
c.668T>G (p.Ile223Ser)
c.635T>G (p.Ile212Ser)
3g.189864326T=CA1428525430TP63c.674T= (p.Ile225=)
c.392T= (p.Ile131=)
c.137T= (p.Ile46=)
n.498T=
c.623T= (p.Ile208=)
c.671T= (p.Ile224=)
c.668T= (p.Ile223=)
c.635T= (p.Ile212=)
3g.189864327C>ACA437412929TP63c.675C>A (p.Ile225=)
c.393C>A (p.Ile131=)
c.138C>A (p.Ile46=)
n.499C>A
c.624C>A (p.Ile208=)
c.672C>A (p.Ile224=)
c.669C>A (p.Ile223=)
c.636C>A (p.Ile212=)
3g.189864327C>GCA355753541TP63c.675C>G (p.Ile225Met)
c.393C>G (p.Ile131Met)
c.138C>G (p.Ile46Met)
n.499C>G
c.624C>G (p.Ile208Met)
c.672C>G (p.Ile224Met)
c.669C>G (p.Ile223Met)
c.636C>G (p.Ile212Met)
3g.189864327C>TCA437412930TP63c.675C>T (p.Ile225=)
c.393C>T (p.Ile131=)
c.138C>T (p.Ile46=)
n.499C>T
c.624C>T (p.Ile208=)
c.672C>T (p.Ile224=)
c.669C>T (p.Ile223=)
c.636C>T (p.Ile212=)
gnomAD v4 COSMIC COSMIC COSMIC
3g.189864328C>ACA355753543TP63c.676C>A (p.Arg226Ser)
c.394C>A (p.Arg132Ser)
c.139C>A (p.Arg47Ser)
n.500C>A
c.625C>A (p.Arg209Ser)
c.673C>A (p.Arg225Ser)
c.670C>A (p.Arg224Ser)
c.637C>A (p.Arg213Ser)
3g.189864328C=CA1428525431TP63c.676C= (p.Arg226=)
c.394C= (p.Arg132=)
c.139C= (p.Arg47=)
n.500C=
c.625C= (p.Arg209=)
c.673C= (p.Arg225=)
c.670C= (p.Arg224=)
c.637C= (p.Arg213=)
3g.189864328C>GCA355753545TP63c.676C>G (p.Arg226Gly)
c.394C>G (p.Arg132Gly)
c.139C>G (p.Arg47Gly)
n.500C>G
c.625C>G (p.Arg209Gly)
c.673C>G (p.Arg225Gly)
c.670C>G (p.Arg224Gly)
c.637C>G (p.Arg213Gly)
3g.189864328C>TCA355753546TP63c.676C>T (p.Arg226Cys)
c.394C>T (p.Arg132Cys)
c.139C>T (p.Arg47Cys)
n.500C>T
c.625C>T (p.Arg209Cys)
c.673C>T (p.Arg225Cys)
c.670C>T (p.Arg224Cys)
c.637C>T (p.Arg213Cys)
dbSNP
3g.189864329G>ACA174179TP63c.677G>A (p.Arg226His)
c.395G>A (p.Arg132His)
c.140G>A (p.Arg47His)
n.501G>A
c.626G>A (p.Arg209His)
c.674G>A (p.Arg225His)
c.671G>A (p.Arg224His)
c.638G>A (p.Arg213His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.189864329G>CCA355753549TP63c.677G>C (p.Arg226Pro)
c.395G>C (p.Arg132Pro)
c.140G>C (p.Arg47Pro)
n.501G>C
c.626G>C (p.Arg209Pro)
c.674G>C (p.Arg225Pro)
c.671G>C (p.Arg224Pro)
c.638G>C (p.Arg213Pro)
3g.189864329G=CA1428525432TP63c.677G= (p.Arg226=)
c.395G= (p.Arg132=)
c.140G= (p.Arg47=)
n.501G=
c.626G= (p.Arg209=)
c.674G= (p.Arg225=)
c.671G= (p.Arg224=)
c.638G= (p.Arg213=)
3g.189864329G>TCA355753551TP63c.677G>T (p.Arg226Leu)
c.395G>T (p.Arg132Leu)
c.140G>T (p.Arg47Leu)
n.501G>T
c.626G>T (p.Arg209Leu)
c.674G>T (p.Arg225Leu)
c.671G>T (p.Arg224Leu)
c.638G>T (p.Arg213Leu)
3g.189864330C>ACA437412931TP63c.678C>A (p.Arg226=)
c.396C>A (p.Arg132=)
c.141C>A (p.Arg47=)
n.502C>A
c.627C>A (p.Arg209=)
c.675C>A (p.Arg225=)
c.672C>A (p.Arg224=)
c.639C>A (p.Arg213=)
3g.189864330C=CA1428525433TP63c.678C= (p.Arg226=)
c.396C= (p.Arg132=)
c.141C= (p.Arg47=)
n.502C=
c.627C= (p.Arg209=)
c.675C= (p.Arg225=)
c.672C= (p.Arg224=)
c.639C= (p.Arg213=)
3g.189864330C>GCA437412932TP63c.678C>G (p.Arg226=)
c.396C>G (p.Arg132=)
c.141C>G (p.Arg47=)
n.502C>G
c.627C>G (p.Arg209=)
c.675C>G (p.Arg225=)
c.672C>G (p.Arg224=)
c.639C>G (p.Arg213=)
3g.189864330C>TCA2752226TP63c.678C>T (p.Arg226=)
c.396C>T (p.Arg132=)
c.141C>T (p.Arg47=)
n.502C>T
c.627C>T (p.Arg209=)
c.675C>T (p.Arg225=)
c.672C>T (p.Arg224=)
c.639C>T (p.Arg213=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189864331G>ACA355753557TP63c.679G>A (p.Ala227Thr)
c.397G>A (p.Ala133Thr)
c.142G>A (p.Ala48Thr)
n.503G>A
c.628G>A (p.Ala210Thr)
c.676G>A (p.Ala226Thr)
c.673G>A (p.Ala225Thr)
c.640G>A (p.Ala214Thr)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
3g.189864331G>CCA355753555TP63c.679G>C (p.Ala227Pro)
c.397G>C (p.Ala133Pro)
c.142G>C (p.Ala48Pro)
n.503G>C
c.628G>C (p.Ala210Pro)
c.676G>C (p.Ala226Pro)
c.673G>C (p.Ala225Pro)
c.640G>C (p.Ala214Pro)
3g.189864331G=CA1428525434TP63c.679G= (p.Ala227=)
c.397G= (p.Ala133=)
c.142G= (p.Ala48=)
n.503G=
c.628G= (p.Ala210=)
c.676G= (p.Ala226=)
c.673G= (p.Ala225=)
c.640G= (p.Ala214=)
3g.189864331G>TCA355753553TP63c.679G>T (p.Ala227Ser)
c.397G>T (p.Ala133Ser)
c.142G>T (p.Ala48Ser)
n.503G>T
c.628G>T (p.Ala210Ser)
c.676G>T (p.Ala226Ser)
c.673G>T (p.Ala225Ser)
c.640G>T (p.Ala214Ser)
3g.189864332C>ACA355753558TP63c.680C>A (p.Ala227Asp)
c.398C>A (p.Ala133Asp)
c.143C>A (p.Ala48Asp)
n.504C>A
c.629C>A (p.Ala210Asp)
c.677C>A (p.Ala226Asp)
c.674C>A (p.Ala225Asp)
c.641C>A (p.Ala214Asp)
3g.189864332C>GCA355753559TP63c.680C>G (p.Ala227Gly)
c.398C>G (p.Ala133Gly)
c.143C>G (p.Ala48Gly)
n.504C>G
c.629C>G (p.Ala210Gly)
c.677C>G (p.Ala226Gly)
c.674C>G (p.Ala225Gly)
c.641C>G (p.Ala214Gly)
3g.189864332C>TCA355753561TP63c.680C>T (p.Ala227Val)
c.398C>T (p.Ala133Val)
c.143C>T (p.Ala48Val)
n.504C>T
c.629C>T (p.Ala210Val)
c.677C>T (p.Ala226Val)
c.674C>T (p.Ala225Val)
c.641C>T (p.Ala214Val)
3g.189864333C>ACA437412933TP63c.681C>A (p.Ala227=)
c.399C>A (p.Ala133=)
c.144C>A (p.Ala48=)
n.505C>A
c.630C>A (p.Ala210=)
c.678C>A (p.Ala226=)
c.675C>A (p.Ala225=)
c.642C>A (p.Ala214=)
3g.189864333C=CA1428525435TP63c.681C= (p.Ala227=)
c.399C= (p.Ala133=)
c.144C= (p.Ala48=)
n.505C=
c.630C= (p.Ala210=)
c.678C= (p.Ala226=)
c.675C= (p.Ala225=)
c.642C= (p.Ala214=)
3g.189864333C>GCA437412934TP63c.681C>G (p.Ala227=)
c.399C>G (p.Ala133=)
c.144C>G (p.Ala48=)
n.505C>G
c.630C>G (p.Ala210=)
c.678C>G (p.Ala226=)
c.675C>G (p.Ala225=)
c.642C>G (p.Ala214=)
3g.189864333C>TCA437412935TP63c.681C>T (p.Ala227=)
c.399C>T (p.Ala133=)
c.144C>T (p.Ala48=)
n.505C>T
c.630C>T (p.Ala210=)
c.678C>T (p.Ala226=)
c.675C>T (p.Ala225=)
c.642C>T (p.Ala214=)
dbSNP gnomAD v3 gnomAD v4
3g.189864334A=CA1428525436TP63c.682A= (p.Met228=)
c.400A= (p.Met134=)
c.145A= (p.Met49=)
n.506A=
c.631A= (p.Met211=)
c.679A= (p.Met227=)
c.676A= (p.Met226=)
c.643A= (p.Met215=)
3g.189864334A>CCA355753563TP63c.682A>C (p.Met228Leu)
c.400A>C (p.Met134Leu)
c.145A>C (p.Met49Leu)
n.506A>C
c.631A>C (p.Met211Leu)
c.679A>C (p.Met227Leu)
c.676A>C (p.Met226Leu)
c.643A>C (p.Met215Leu)
3g.189864334A>GCA355753565TP63c.682A>G (p.Met228Val)
c.400A>G (p.Met134Val)
c.145A>G (p.Met49Val)
n.506A>G
c.631A>G (p.Met211Val)
c.679A>G (p.Met227Val)
c.676A>G (p.Met226Val)
c.643A>G (p.Met215Val)
dbSNP gnomAD v4
3g.189864334A>TCA355753566TP63c.682A>T (p.Met228Leu)
c.400A>T (p.Met134Leu)
c.145A>T (p.Met49Leu)
n.506A>T
c.631A>T (p.Met211Leu)
c.679A>T (p.Met227Leu)
c.676A>T (p.Met226Leu)
c.643A>T (p.Met215Leu)
3g.189864335T>ACA355753567TP63c.683T>A (p.Met228Lys)
c.401T>A (p.Met134Lys)
c.146T>A (p.Met49Lys)
n.507T>A
c.632T>A (p.Met211Lys)
c.680T>A (p.Met227Lys)
c.677T>A (p.Met226Lys)
c.644T>A (p.Met215Lys)
3g.189864335T>CCA355753569TP63c.683T>C (p.Met228Thr)
c.401T>C (p.Met134Thr)
c.146T>C (p.Met49Thr)
n.507T>C
c.632T>C (p.Met211Thr)
c.680T>C (p.Met227Thr)
c.677T>C (p.Met226Thr)
c.644T>C (p.Met215Thr)
dbSNP gnomAD v2 gnomAD v4
3g.189864335T>GCA355753571TP63c.683T>G (p.Met228Arg)
c.401T>G (p.Met134Arg)
c.146T>G (p.Met49Arg)
n.507T>G
c.632T>G (p.Met211Arg)
c.680T>G (p.Met227Arg)
c.677T>G (p.Met226Arg)
c.644T>G (p.Met215Arg)
3g.189864335T=CA1428525437TP63c.683T= (p.Met228=)
c.401T= (p.Met134=)
c.146T= (p.Met49=)
n.507T=
c.632T= (p.Met211=)
c.680T= (p.Met227=)
c.677T= (p.Met226=)
c.644T= (p.Met215=)
3g.189864336G>ACA355753573TP63c.684G>A (p.Met228Ile)
c.402G>A (p.Met134Ile)
c.147G>A (p.Met49Ile)
n.508G>A
c.633G>A (p.Met211Ile)
c.681G>A (p.Met227Ile)
c.678G>A (p.Met226Ile)
c.645G>A (p.Met215Ile)
3g.189864336G>CCA355753574TP63c.684G>C (p.Met228Ile)
c.402G>C (p.Met134Ile)
c.147G>C (p.Met49Ile)
n.508G>C
c.633G>C (p.Met211Ile)
c.681G>C (p.Met227Ile)
c.678G>C (p.Met226Ile)
c.645G>C (p.Met215Ile)
3g.189864336G>TCA355753575TP63c.684G>T (p.Met228Ile)
c.402G>T (p.Met134Ile)
c.147G>T (p.Met49Ile)
n.508G>T
c.633G>T (p.Met211Ile)
c.681G>T (p.Met227Ile)
c.678G>T (p.Met226Ile)
c.645G>T (p.Met215Ile)
3g.189864337C>ACA355753580TP63c.685C>A (p.Pro229Thr)
c.403C>A (p.Pro135Thr)
c.148C>A (p.Pro50Thr)
n.509C>A
c.634C>A (p.Pro212Thr)
c.682C>A (p.Pro228Thr)
c.679C>A (p.Pro227Thr)
c.646C>A (p.Pro216Thr)
3g.189864337C>GCA355753579TP63c.685C>G (p.Pro229Ala)
c.403C>G (p.Pro135Ala)
c.148C>G (p.Pro50Ala)
n.509C>G
c.634C>G (p.Pro212Ala)
c.682C>G (p.Pro228Ala)
c.679C>G (p.Pro227Ala)
c.646C>G (p.Pro216Ala)
3g.189864337C>TCA355753577TP63c.685C>T (p.Pro229Ser)
c.403C>T (p.Pro135Ser)
c.148C>T (p.Pro50Ser)
n.509C>T
c.634C>T (p.Pro212Ser)
c.682C>T (p.Pro228Ser)
c.679C>T (p.Pro227Ser)
c.646C>T (p.Pro216Ser)
3g.189864338C>ACA355753582TP63c.686C>A (p.Pro229His)
c.404C>A (p.Pro135His)
c.149C>A (p.Pro50His)
n.510C>A
c.635C>A (p.Pro212His)
c.683C>A (p.Pro228His)
c.680C>A (p.Pro227His)
c.647C>A (p.Pro216His)
3g.189864338C>GCA355753586TP63c.686C>G (p.Pro229Arg)
c.404C>G (p.Pro135Arg)
c.149C>G (p.Pro50Arg)
n.510C>G
c.635C>G (p.Pro212Arg)
c.683C>G (p.Pro228Arg)
c.680C>G (p.Pro227Arg)
c.647C>G (p.Pro216Arg)
3g.189864338C>TCA355753584TP63c.686C>T (p.Pro229Leu)
c.404C>T (p.Pro135Leu)
c.149C>T (p.Pro50Leu)
n.510C>T
c.635C>T (p.Pro212Leu)
c.683C>T (p.Pro228Leu)
c.680C>T (p.Pro227Leu)
c.647C>T (p.Pro216Leu)
3g.189864339T>ACA437412936TP63c.687T>A (p.Pro229=)
c.405T>A (p.Pro135=)
c.150T>A (p.Pro50=)
n.511T>A
c.636T>A (p.Pro212=)
c.684T>A (p.Pro228=)
c.681T>A (p.Pro227=)
c.648T>A (p.Pro216=)
3g.189864339T>CCA437412937TP63c.687T>C (p.Pro229=)
c.405T>C (p.Pro135=)
c.150T>C (p.Pro50=)
n.511T>C
c.636T>C (p.Pro212=)
c.684T>C (p.Pro228=)
c.681T>C (p.Pro227=)
c.648T>C (p.Pro216=)
3g.189864339T>GCA437412938TP63c.687T>G (p.Pro229=)
c.405T>G (p.Pro135=)
c.150T>G (p.Pro50=)
n.511T>G
c.636T>G (p.Pro212=)
c.684T>G (p.Pro228=)
c.681T>G (p.Pro227=)
c.648T>G (p.Pro216=)
3g.189864340G>ACA355753587TP63c.688G>A (p.Val230Ile)
c.406G>A (p.Val136Ile)
c.151G>A (p.Val51Ile)
n.512G>A
c.637G>A (p.Val213Ile)
c.685G>A (p.Val229Ile)
c.682G>A (p.Val228Ile)
c.649G>A (p.Val217Ile)
dbSNP
3g.189864340G>CCA2752227TP63c.688G>C (p.Val230Leu)
c.406G>C (p.Val136Leu)
c.151G>C (p.Val51Leu)
n.512G>C
c.637G>C (p.Val213Leu)
c.685G>C (p.Val229Leu)
c.682G>C (p.Val228Leu)
c.649G>C (p.Val217Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.189864340G=CA1428525438TP63c.688G= (p.Val230=)
c.406G= (p.Val136=)
c.151G= (p.Val51=)
n.512G=
c.637G= (p.Val213=)
c.685G= (p.Val229=)
c.682G= (p.Val228=)
c.649G= (p.Val217=)
3g.189864340G>TCA355753589TP63c.688G>T (p.Val230Phe)
c.406G>T (p.Val136Phe)
c.151G>T (p.Val51Phe)
n.512G>T
c.637G>T (p.Val213Phe)
c.685G>T (p.Val229Phe)
c.682G>T (p.Val228Phe)
c.649G>T (p.Val217Phe)
3g.189864341T>ACA355753591TP63c.689T>A (p.Val230Asp)
c.407T>A (p.Val136Asp)
c.152T>A (p.Val51Asp)
n.513T>A
c.638T>A (p.Val213Asp)
c.686T>A (p.Val229Asp)
c.683T>A (p.Val228Asp)
c.650T>A (p.Val217Asp)
3g.189864341T>CCA355753593TP63c.689T>C (p.Val230Ala)
c.407T>C (p.Val136Ala)
c.152T>C (p.Val51Ala)
n.513T>C
c.638T>C (p.Val213Ala)
c.686T>C (p.Val229Ala)
c.683T>C (p.Val228Ala)
c.650T>C (p.Val217Ala)
3g.189864341T>GCA355753594TP63c.689T>G (p.Val230Gly)
c.407T>G (p.Val136Gly)
c.152T>G (p.Val51Gly)
n.513T>G
c.638T>G (p.Val213Gly)
c.686T>G (p.Val229Gly)
c.683T>G (p.Val228Gly)
c.650T>G (p.Val217Gly)
3g.189864342C>ACA437412939TP63c.690C>A (p.Val230=)
c.408C>A (p.Val136=)
c.153C>A (p.Val51=)
n.514C>A
c.639C>A (p.Val213=)
c.687C>A (p.Val229=)
c.684C>A (p.Val228=)
c.651C>A (p.Val217=)
3g.189864342C=CA1428525439TP63c.690C= (p.Val230=)
c.408C= (p.Val136=)
c.153C= (p.Val51=)
n.514C=
c.639C= (p.Val213=)
c.687C= (p.Val229=)
c.684C= (p.Val228=)
c.651C= (p.Val217=)
3g.189864342C>GCA437412940TP63c.690C>G (p.Val230=)
c.408C>G (p.Val136=)
c.153C>G (p.Val51=)
n.514C>G
c.639C>G (p.Val213=)
c.687C>G (p.Val229=)
c.684C>G (p.Val228=)
c.651C>G (p.Val217=)
dbSNP gnomAD v3 gnomAD v4
3g.189864342C>TCA437412941TP63c.690C>T (p.Val230=)
c.408C>T (p.Val136=)
c.153C>T (p.Val51=)
n.514C>T
c.639C>T (p.Val213=)
c.687C>T (p.Val229=)
c.684C>T (p.Val228=)
c.651C>T (p.Val217=)
COSMIC COSMIC COSMIC
3g.189864343T>ACA355753596TP63c.691T>A (p.Tyr231Asn)
c.409T>A (p.Tyr137Asn)
c.154T>A (p.Tyr52Asn)
n.515T>A
c.640T>A (p.Tyr214Asn)
c.688T>A (p.Tyr230Asn)
c.685T>A (p.Tyr229Asn)
c.652T>A (p.Tyr218Asn)
3g.189864343T>CCA355753598TP63c.691T>C (p.Tyr231His)
c.409T>C (p.Tyr137His)
c.154T>C (p.Tyr52His)
n.515T>C
c.640T>C (p.Tyr214His)
c.688T>C (p.Tyr230His)
c.685T>C (p.Tyr229His)
c.652T>C (p.Tyr218His)
3g.189864343T>GCA355753600TP63c.691T>G (p.Tyr231Asp)
c.409T>G (p.Tyr137Asp)
c.154T>G (p.Tyr52Asp)
n.515T>G
c.640T>G (p.Tyr214Asp)
c.688T>G (p.Tyr230Asp)
c.685T>G (p.Tyr229Asp)
c.652T>G (p.Tyr218Asp)
3g.189864344A>CCA355753602TP63c.692A>C (p.Tyr231Ser)
c.410A>C (p.Tyr137Ser)
c.155A>C (p.Tyr52Ser)
n.516A>C
c.641A>C (p.Tyr214Ser)
c.689A>C (p.Tyr230Ser)
c.686A>C (p.Tyr229Ser)
c.653A>C (p.Tyr218Ser)
3g.189864344A>GCA355753604TP63c.692A>G (p.Tyr231Cys)
c.410A>G (p.Tyr137Cys)
c.155A>G (p.Tyr52Cys)
n.516A>G
c.641A>G (p.Tyr214Cys)
c.689A>G (p.Tyr230Cys)
c.686A>G (p.Tyr229Cys)
c.653A>G (p.Tyr218Cys)
3g.189864344A>TCA355753605TP63c.692A>T (p.Tyr231Phe)
c.410A>T (p.Tyr137Phe)
c.155A>T (p.Tyr52Phe)
n.516A>T
c.641A>T (p.Tyr214Phe)
c.689A>T (p.Tyr230Phe)
c.686A>T (p.Tyr229Phe)
c.653A>T (p.Tyr218Phe)
3g.189864345C>ACA355753610TP63c.693C>A (p.Tyr231Ter)
c.411C>A (p.Tyr137Ter)
c.156C>A (p.Tyr52Ter)
n.517C>A
c.642C>A (p.Tyr214Ter)
c.690C>A (p.Tyr230Ter)
c.687C>A (p.Tyr229Ter)
c.654C>A (p.Tyr218Ter)
3g.189864345C=CA1428525440TP63c.693C= (p.Tyr231=)
c.411C= (p.Tyr137=)
c.156C= (p.Tyr52=)
n.517C=
c.642C= (p.Tyr214=)
c.690C= (p.Tyr230=)
c.687C= (p.Tyr229=)
c.654C= (p.Tyr218=)
3g.189864345C>GCA355753608TP63c.693C>G (p.Tyr231Ter)
c.411C>G (p.Tyr137Ter)
c.156C>G (p.Tyr52Ter)
n.517C>G
c.642C>G (p.Tyr214Ter)
c.690C>G (p.Tyr230Ter)
c.687C>G (p.Tyr229Ter)
c.654C>G (p.Tyr218Ter)
3g.189864345C>TCA2752228TP63c.693C>T (p.Tyr231=)
c.411C>T (p.Tyr137=)
c.156C>T (p.Tyr52=)
n.517C>T
c.642C>T (p.Tyr214=)
c.690C>T (p.Tyr230=)
c.687C>T (p.Tyr229=)
c.654C>T (p.Tyr218=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.189864345_189864346delinsCACA1428525441TP63c.693_694delinsCA (p.Tyr231=)
c.411_412delinsCA (p.Tyr137=)
c.156_157delinsCA (p.Tyr52=)
n.517_518delinsCA
c.642_643delinsCA (p.Tyr214=)
c.690_691delinsCA (p.Tyr230=)
c.687_688delinsCA (p.Tyr229=)
c.654_655delinsCA (p.Tyr218=)
3g.189864346A=CA1428525442TP63c.694A= (p.Lys232=)
c.412A= (p.Lys138=)
c.157A= (p.Lys53=)
n.518A=
c.643A= (p.Lys215=)
c.691A= (p.Lys231=)
c.688A= (p.Lys230=)
c.655A= (p.Lys219=)
3g.189864346A>CCA355753611TP63c.694A>C (p.Lys232Gln)
c.412A>C (p.Lys138Gln)
c.157A>C (p.Lys53Gln)
n.518A>C
c.643A>C (p.Lys215Gln)
c.691A>C (p.Lys231Gln)
c.688A>C (p.Lys230Gln)
c.655A>C (p.Lys219Gln)
3g.189864346A>GCA355753613TP63c.694A>G (p.Lys232Glu)
c.412A>G (p.Lys138Glu)
c.157A>G (p.Lys53Glu)
n.518A>G
c.643A>G (p.Lys215Glu)
c.691A>G (p.Lys231Glu)
c.688A>G (p.Lys230Glu)
c.655A>G (p.Lys219Glu)
ClinVar dbSNP
3g.189864346A>TCA355753614TP63c.694A>T (p.Lys232Ter)
c.412A>T (p.Lys138Ter)
c.157A>T (p.Lys53Ter)
n.518A>T
c.643A>T (p.Lys215Ter)
c.691A>T (p.Lys231Ter)
c.688A>T (p.Lys230Ter)
c.655A>T (p.Lys219Ter)
3g.189864351dupCA1057637930TP63c.699dup (p.Ala234SerfsTer2)
c.417dup (p.Ala140SerfsTer2)
c.162dup (p.Ala55SerfsTer2)
n.523dup
c.648dup (p.Ala217SerfsTer2)
c.696dup (p.Ala233SerfsTer2)
c.693dup (p.Ala232SerfsTer2)
c.660dup (p.Ala221SerfsTer2)
dbSNP gnomAD v3 gnomAD v4
3g.189864351delCA645528630TP63c.699del (p.Ala234LeufsTer8)
c.417del (p.Ala140LeufsTer8)
c.162del (p.Ala55LeufsTer8)
n.523del
c.648del (p.Ala217LeufsTer8)
c.696del (p.Ala233LeufsTer8)
c.693del (p.Ala232LeufsTer8)
c.660del (p.Ala221LeufsTer8)
dbSNP COSMIC COSMIC COSMIC
3g.189864347A>CCA355753615TP63c.695A>C (p.Lys232Thr)
c.413A>C (p.Lys138Thr)
c.158A>C (p.Lys53Thr)
n.519A>C
c.644A>C (p.Lys215Thr)
c.692A>C (p.Lys231Thr)
c.689A>C (p.Lys230Thr)
c.656A>C (p.Lys219Thr)
3g.189864347A>GCA355753616TP63c.695A>G (p.Lys232Arg)
c.413A>G (p.Lys138Arg)
c.158A>G (p.Lys53Arg)
n.519A>G
c.644A>G (p.Lys215Arg)
c.692A>G (p.Lys231Arg)
c.689A>G (p.Lys230Arg)
c.656A>G (p.Lys219Arg)
gnomAD v4
3g.189864347A>TCA355753617TP63c.695A>T (p.Lys232Ile)
c.413A>T (p.Lys138Ile)
c.158A>T (p.Lys53Ile)
n.519A>T
c.644A>T (p.Lys215Ile)
c.692A>T (p.Lys231Ile)
c.689A>T (p.Lys230Ile)
c.656A>T (p.Lys219Ile)
3g.189864348A>CCA355753619TP63c.696A>C (p.Lys232Asn)
c.414A>C (p.Lys138Asn)
c.159A>C (p.Lys53Asn)
n.520A>C
c.645A>C (p.Lys215Asn)
c.693A>C (p.Lys231Asn)
c.690A>C (p.Lys230Asn)
c.657A>C (p.Lys219Asn)
3g.189864348A>GCA437412942TP63c.696A>G (p.Lys232=)
c.414A>G (p.Lys138=)
c.159A>G (p.Lys53=)
n.520A>G
c.645A>G (p.Lys215=)
c.693A>G (p.Lys231=)
c.690A>G (p.Lys230=)
c.657A>G (p.Lys219=)
3g.189864348A>TCA355753621TP63c.696A>T (p.Lys232Asn)
c.414A>T (p.Lys138Asn)
c.159A>T (p.Lys53Asn)
n.520A>T
c.645A>T (p.Lys215Asn)
c.693A>T (p.Lys231Asn)
c.690A>T (p.Lys230Asn)
c.657A>T (p.Lys219Asn)
3g.189864349A=CA1428525443TP63c.697A= (p.Lys233=)
c.415A= (p.Lys139=)
c.160A= (p.Lys54=)
n.521A=
c.646A= (p.Lys216=)
c.694A= (p.Lys232=)
c.691A= (p.Lys231=)
c.658A= (p.Lys220=)
3g.189864349A>CCA355753622TP63c.697A>C (p.Lys233Gln)
c.415A>C (p.Lys139Gln)
c.160A>C (p.Lys54Gln)
n.521A>C
c.646A>C (p.Lys216Gln)
c.694A>C (p.Lys232Gln)
c.691A>C (p.Lys231Gln)
c.658A>C (p.Lys220Gln)
3g.189864349A>GCA118337TP63c.697A>G (p.Lys233Glu)
c.415A>G (p.Lys139Glu)
c.160A>G (p.Lys54Glu)
n.521A>G
c.646A>G (p.Lys216Glu)
c.694A>G (p.Lys232Glu)
c.691A>G (p.Lys231Glu)
c.658A>G (p.Lys220Glu)
ClinVar dbSNP
3g.189864349A>TCA355753624TP63c.697A>T (p.Lys233Ter)
c.415A>T (p.Lys139Ter)
c.160A>T (p.Lys54Ter)
n.521A>T
c.646A>T (p.Lys216Ter)
c.694A>T (p.Lys232Ter)
c.691A>T (p.Lys231Ter)
c.658A>T (p.Lys220Ter)
3g.189864349_189864352delinsAAAGCA1428525444TP63c.697_700delinsAAAG (p.Lys233=)
c.415_418delinsAAAG (p.Lys139=)
c.160_163delinsAAAG (p.Lys54=)
n.521_524delinsAAAG
c.646_649delinsAAAG (p.Lys216=)
c.694_697delinsAAAG (p.Lys232=)
c.691_694delinsAAAG (p.Lys231=)
c.658_661delinsAAAG (p.Lys220=)
3g.189864350A=CA1428525445TP63c.698A= (p.Lys233=)
c.416A= (p.Lys139=)
c.161A= (p.Lys54=)
n.522A=
c.647A= (p.Lys216=)
c.695A= (p.Lys232=)
c.692A= (p.Lys231=)
c.659A= (p.Lys220=)
3g.189864350A>CCA355753628TP63c.698A>C (p.Lys233Thr)
c.416A>C (p.Lys139Thr)
c.161A>C (p.Lys54Thr)
n.522A>C
c.647A>C (p.Lys216Thr)
c.695A>C (p.Lys232Thr)
c.692A>C (p.Lys231Thr)
c.659A>C (p.Lys220Thr)
ClinVar dbSNP
3g.189864350A>GCA355753630TP63c.698A>G (p.Lys233Arg)
c.416A>G (p.Lys139Arg)
c.161A>G (p.Lys54Arg)
n.522A>G
c.647A>G (p.Lys216Arg)
c.695A>G (p.Lys232Arg)
c.692A>G (p.Lys231Arg)
c.659A>G (p.Lys220Arg)
3g.189864350A>TCA355753626TP63c.698A>T (p.Lys233Ile)
c.416A>T (p.Lys139Ile)
c.161A>T (p.Lys54Ile)
n.522A>T
c.647A>T (p.Lys216Ile)
c.695A>T (p.Lys232Ile)
c.692A>T (p.Lys231Ile)
c.659A>T (p.Lys220Ile)
3g.189864350_189864352delCA891843050TP63c.698_700del (p.Lys233_Ala234delinsThr)
c.416_418del (p.Lys139_Ala140delinsThr)
c.161_163del (p.Lys54_Ala55delinsThr)
n.522_524del
c.647_649del (p.Lys216_Ala217delinsThr)
c.695_697del (p.Lys232_Ala233delinsThr)
c.692_694del (p.Lys231_Ala232delinsThr)
c.659_661del (p.Lys220_Ala221delinsThr)
ClinVar dbSNP
3g.189864351A=CA1428525446TP63c.699A= (p.Lys233=)
c.417A= (p.Lys139=)
c.162A= (p.Lys54=)
n.523A=
c.648A= (p.Lys216=)
c.696A= (p.Lys232=)
c.693A= (p.Lys231=)
c.660A= (p.Lys220=)
3g.189864351A>CCA355753631TP63c.699A>C (p.Lys233Asn)
c.417A>C (p.Lys139Asn)
c.162A>C (p.Lys54Asn)
n.523A>C
c.648A>C (p.Lys216Asn)
c.696A>C (p.Lys232Asn)
c.693A>C (p.Lys231Asn)
c.660A>C (p.Lys220Asn)
3g.189864351A>GCA2752229TP63c.699A>G (p.Lys233=)
c.417A>G (p.Lys139=)
c.162A>G (p.Lys54=)
n.523A>G
c.648A>G (p.Lys216=)
c.696A>G (p.Lys232=)
c.693A>G (p.Lys231=)
c.660A>G (p.Lys220=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189864351A>TCA355753633TP63c.699A>T (p.Lys233Asn)
c.417A>T (p.Lys139Asn)
c.162A>T (p.Lys54Asn)
n.523A>T
c.648A>T (p.Lys216Asn)
c.696A>T (p.Lys232Asn)
c.693A>T (p.Lys231Asn)
c.660A>T (p.Lys220Asn)
dbSNP
3g.189864352G>ACA355753635TP63c.700G>A (p.Ala234Thr)
c.418G>A (p.Ala140Thr)
c.163G>A (p.Ala55Thr)
n.524G>A
c.649G>A (p.Ala217Thr)
c.697G>A (p.Ala233Thr)
c.694G>A (p.Ala232Thr)
c.661G>A (p.Ala221Thr)
COSMIC COSMIC
3g.189864352G>CCA355753636TP63c.700G>C (p.Ala234Pro)
c.418G>C (p.Ala140Pro)
c.163G>C (p.Ala55Pro)
n.524G>C
c.649G>C (p.Ala217Pro)
c.697G>C (p.Ala233Pro)
c.694G>C (p.Ala232Pro)
c.661G>C (p.Ala221Pro)
3g.189864352G>TCA355753638TP63c.700G>T (p.Ala234Ser)
c.418G>T (p.Ala140Ser)
c.163G>T (p.Ala55Ser)
n.524G>T
c.649G>T (p.Ala217Ser)
c.697G>T (p.Ala233Ser)
c.694G>T (p.Ala232Ser)
c.661G>T (p.Ala221Ser)
3g.189864353C>ACA355753639TP63c.701C>A (p.Ala234Asp)
c.419C>A (p.Ala140Asp)
c.164C>A (p.Ala55Asp)
n.525C>A
c.650C>A (p.Ala217Asp)
c.698C>A (p.Ala233Asp)
c.695C>A (p.Ala232Asp)
c.662C>A (p.Ala221Asp)
3g.189864353C>GCA355753641TP63c.701C>G (p.Ala234Gly)
c.419C>G (p.Ala140Gly)
c.164C>G (p.Ala55Gly)
n.525C>G
c.650C>G (p.Ala217Gly)
c.698C>G (p.Ala233Gly)
c.695C>G (p.Ala232Gly)
c.662C>G (p.Ala221Gly)
gnomAD v4
3g.189864353C>TCA355753643TP63c.701C>T (p.Ala234Val)
c.419C>T (p.Ala140Val)
c.164C>T (p.Ala55Val)
n.525C>T
c.650C>T (p.Ala217Val)
c.698C>T (p.Ala233Val)
c.695C>T (p.Ala232Val)
c.662C>T (p.Ala221Val)
3g.189864354T>ACA437412943TP63c.702T>A (p.Ala234=)
c.420T>A (p.Ala140=)
c.165T>A (p.Ala55=)
n.526T>A
c.651T>A (p.Ala217=)
c.699T>A (p.Ala233=)
c.696T>A (p.Ala232=)
c.663T>A (p.Ala221=)
3g.189864354T>CCA437412944TP63c.702T>C (p.Ala234=)
c.420T>C (p.Ala140=)
c.165T>C (p.Ala55=)
n.526T>C
c.651T>C (p.Ala217=)
c.699T>C (p.Ala233=)
c.696T>C (p.Ala232=)
c.663T>C (p.Ala221=)
3g.189864354T>GCA437412945TP63c.702T>G (p.Ala234=)
c.420T>G (p.Ala140=)
c.165T>G (p.Ala55=)
n.526T>G
c.651T>G (p.Ala217=)
c.699T>G (p.Ala233=)
c.696T>G (p.Ala232=)
c.663T>G (p.Ala221=)
3g.189864355G>ACA355753644TP63c.703G>A (p.Glu235Lys)
c.421G>A (p.Glu141Lys)
c.166G>A (p.Glu56Lys)
n.527G>A
c.652G>A (p.Glu218Lys)
c.700G>A (p.Glu234Lys)
c.697G>A (p.Glu233Lys)
c.664G>A (p.Glu222Lys)
3g.189864355G>CCA355753645TP63c.703G>C (p.Glu235Gln)
c.421G>C (p.Glu141Gln)
c.166G>C (p.Glu56Gln)
n.527G>C
c.652G>C (p.Glu218Gln)
c.700G>C (p.Glu234Gln)
c.697G>C (p.Glu233Gln)
c.664G>C (p.Glu222Gln)
3g.189864355G>TCA355753646TP63c.703G>T (p.Glu235Ter)
c.421G>T (p.Glu141Ter)
c.166G>T (p.Glu56Ter)
n.527G>T
c.652G>T (p.Glu218Ter)
c.700G>T (p.Glu234Ter)
c.697G>T (p.Glu233Ter)
c.664G>T (p.Glu222Ter)
3g.189864356A>CCA355753651TP63c.704A>C (p.Glu235Ala)
c.422A>C (p.Glu141Ala)
c.167A>C (p.Glu56Ala)
n.528A>C
c.653A>C (p.Glu218Ala)
c.701A>C (p.Glu234Ala)
c.698A>C (p.Glu233Ala)
c.665A>C (p.Glu222Ala)
3g.189864356A>GCA355753648TP63c.704A>G (p.Glu235Gly)
c.422A>G (p.Glu141Gly)
c.167A>G (p.Glu56Gly)
n.528A>G
c.653A>G (p.Glu218Gly)
c.701A>G (p.Glu234Gly)
c.698A>G (p.Glu233Gly)
c.665A>G (p.Glu222Gly)
3g.189864356A>TCA355753650TP63c.704A>T (p.Glu235Val)
c.422A>T (p.Glu141Val)
c.167A>T (p.Glu56Val)
n.528A>T
c.653A>T (p.Glu218Val)
c.701A>T (p.Glu234Val)
c.698A>T (p.Glu233Val)
c.665A>T (p.Glu222Val)
3g.189864357G>ACA437412946TP63c.705G>A (p.Glu235=)
c.423G>A (p.Glu141=)
c.168G>A (p.Glu56=)
n.529G>A
c.654G>A (p.Glu218=)
c.702G>A (p.Glu234=)
c.699G>A (p.Glu233=)
c.666G>A (p.Glu222=)
3g.189864357G>CCA355753653TP63c.705G>C (p.Glu235Asp)
c.423G>C (p.Glu141Asp)
c.168G>C (p.Glu56Asp)
n.529G>C
c.654G>C (p.Glu218Asp)
c.702G>C (p.Glu234Asp)
c.699G>C (p.Glu233Asp)
c.666G>C (p.Glu222Asp)
3g.189864357G>TCA355753655TP63c.705G>T (p.Glu235Asp)
c.423G>T (p.Glu141Asp)
c.168G>T (p.Glu56Asp)
n.529G>T
c.654G>T (p.Glu218Asp)
c.702G>T (p.Glu234Asp)
c.699G>T (p.Glu233Asp)
c.666G>T (p.Glu222Asp)
3g.189864358C>ACA355753657TP63c.706C>A (p.His236Asn)
c.424C>A (p.His142Asn)
c.169C>A (p.His57Asn)
n.530C>A
c.655C>A (p.His219Asn)
c.703C>A (p.His235Asn)
c.700C>A (p.His234Asn)
c.667C>A (p.His223Asn)
3g.189864358C>GCA355753658TP63c.706C>G (p.His236Asp)
c.424C>G (p.His142Asp)
c.169C>G (p.His57Asp)
n.530C>G
c.655C>G (p.His219Asp)
c.703C>G (p.His235Asp)
c.700C>G (p.His234Asp)
c.667C>G (p.His223Asp)
3g.189864358C>TCA355753660TP63c.706C>T (p.His236Tyr)
c.424C>T (p.His142Tyr)
c.169C>T (p.His57Tyr)
n.530C>T
c.655C>T (p.His219Tyr)
c.703C>T (p.His235Tyr)
c.700C>T (p.His234Tyr)
c.667C>T (p.His223Tyr)
3g.189864359A>CCA355753662TP63c.707A>C (p.His236Pro)
c.425A>C (p.His142Pro)
c.170A>C (p.His57Pro)
n.531A>C
c.656A>C (p.His219Pro)
c.704A>C (p.His235Pro)
c.701A>C (p.His234Pro)
c.668A>C (p.His223Pro)
3g.189864359A>GCA355753663TP63c.707A>G (p.His236Arg)
c.425A>G (p.His142Arg)
c.170A>G (p.His57Arg)
n.531A>G
c.656A>G (p.His219Arg)
c.704A>G (p.His235Arg)
c.701A>G (p.His234Arg)
c.668A>G (p.His223Arg)
COSMIC
3g.189864359A>TCA355753665TP63c.707A>T (p.His236Leu)
c.425A>T (p.His142Leu)
c.170A>T (p.His57Leu)
n.531A>T
c.656A>T (p.His219Leu)
c.704A>T (p.His235Leu)
c.701A>T (p.His234Leu)
c.668A>T (p.His223Leu)
3g.189864360C>ACA355753666TP63c.708C>A (p.His236Gln)
c.426C>A (p.His142Gln)
c.171C>A (p.His57Gln)
n.532C>A
c.657C>A (p.His219Gln)
c.705C>A (p.His235Gln)
c.702C>A (p.His234Gln)
c.669C>A (p.His223Gln)
3g.189864360C=CA1428525447TP63c.708C= (p.His236=)
c.426C= (p.His142=)
c.171C= (p.His57=)
n.532C=
c.657C= (p.His219=)
c.705C= (p.His235=)
c.702C= (p.His234=)
c.669C= (p.His223=)
3g.189864360C>GCA355753668TP63c.708C>G (p.His236Gln)
c.426C>G (p.His142Gln)
c.171C>G (p.His57Gln)
n.532C>G
c.657C>G (p.His219Gln)
c.705C>G (p.His235Gln)
c.702C>G (p.His234Gln)
c.669C>G (p.His223Gln)
3g.189864360C>TCA437412947TP63c.708C>T (p.His236=)
c.426C>T (p.His142=)
c.171C>T (p.His57=)
n.532C>T
c.657C>T (p.His219=)
c.705C>T (p.His235=)
c.702C>T (p.His234=)
c.669C>T (p.His223=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189864361G>ACA2752230TP63c.709G>A (p.Val237Ile)
c.427G>A (p.Val143Ile)
c.172G>A (p.Val58Ile)
n.533G>A
c.658G>A (p.Val220Ile)
c.706G>A (p.Val236Ile)
c.703G>A (p.Val235Ile)
c.670G>A (p.Val224Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.189864361G>CCA355753670TP63c.709G>C (p.Val237Leu)
c.427G>C (p.Val143Leu)
c.172G>C (p.Val58Leu)
n.533G>C
c.658G>C (p.Val220Leu)
c.706G>C (p.Val236Leu)
c.703G>C (p.Val235Leu)
c.670G>C (p.Val224Leu)
3g.189864361G=CA1428525448TP63c.709G= (p.Val237=)
c.427G= (p.Val143=)
c.172G= (p.Val58=)
n.533G=
c.658G= (p.Val220=)
c.706G= (p.Val236=)
c.703G= (p.Val235=)
c.670G= (p.Val224=)
3g.189864361G>TCA355753672TP63c.709G>T (p.Val237Phe)
c.427G>T (p.Val143Phe)
c.172G>T (p.Val58Phe)
n.533G>T
c.658G>T (p.Val220Phe)
c.706G>T (p.Val236Phe)
c.703G>T (p.Val235Phe)
c.670G>T (p.Val224Phe)
3g.189864362T>ACA355753676TP63c.710T>A (p.Val237Asp)
c.428T>A (p.Val143Asp)
c.173T>A (p.Val58Asp)
n.534T>A
c.659T>A (p.Val220Asp)
c.707T>A (p.Val236Asp)
c.704T>A (p.Val235Asp)
c.671T>A (p.Val224Asp)
3g.189864362T>CCA355753677TP63c.710T>C (p.Val237Ala)
c.428T>C (p.Val143Ala)
c.173T>C (p.Val58Ala)
n.534T>C
c.659T>C (p.Val220Ala)
c.707T>C (p.Val236Ala)
c.704T>C (p.Val235Ala)
c.671T>C (p.Val224Ala)
3g.189864362T>GCA355753674TP63c.710T>G (p.Val237Gly)
c.428T>G (p.Val143Gly)
c.173T>G (p.Val58Gly)
n.534T>G
c.659T>G (p.Val220Gly)
c.707T>G (p.Val236Gly)
c.704T>G (p.Val235Gly)
c.671T>G (p.Val224Gly)
3g.189864363C>ACA437412948TP63c.711C>A (p.Val237=)
c.429C>A (p.Val143=)
c.174C>A (p.Val58=)
n.535C>A
c.660C>A (p.Val220=)
c.708C>A (p.Val236=)
c.705C>A (p.Val235=)
c.672C>A (p.Val224=)
3g.189864363C=CA1428525449TP63c.711C= (p.Val237=)
c.429C= (p.Val143=)
c.174C= (p.Val58=)
n.535C=
c.660C= (p.Val220=)
c.708C= (p.Val236=)
c.705C= (p.Val235=)
c.672C= (p.Val224=)
3g.189864363C>GCA437412949TP63c.711C>G (p.Val237=)
c.429C>G (p.Val143=)
c.174C>G (p.Val58=)
n.535C>G
c.660C>G (p.Val220=)
c.708C>G (p.Val236=)
c.705C>G (p.Val235=)
c.672C>G (p.Val224=)
3g.189864363C>TCA89742088TP63c.711C>T (p.Val237=)
c.429C>T (p.Val143=)
c.174C>T (p.Val58=)
n.535C>T
c.660C>T (p.Val220=)
c.708C>T (p.Val236=)
c.705C>T (p.Val235=)
c.672C>T (p.Val224=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189864364A>CCA355753680TP63c.712A>C (p.Thr238Pro)
c.430A>C (p.Thr144Pro)
c.175A>C (p.Thr59Pro)
n.536A>C
c.661A>C (p.Thr221Pro)
c.709A>C (p.Thr237Pro)
c.706A>C (p.Thr236Pro)
c.673A>C (p.Thr225Pro)
3g.189864364A>GCA355753681TP63c.712A>G (p.Thr238Ala)
c.430A>G (p.Thr144Ala)
c.175A>G (p.Thr59Ala)
n.536A>G
c.661A>G (p.Thr221Ala)
c.709A>G (p.Thr237Ala)
c.706A>G (p.Thr236Ala)
c.673A>G (p.Thr225Ala)
3g.189864364A>TCA355753682TP63c.712A>T (p.Thr238Ser)
c.430A>T (p.Thr144Ser)
c.175A>T (p.Thr59Ser)
n.536A>T
c.661A>T (p.Thr221Ser)
c.709A>T (p.Thr237Ser)
c.706A>T (p.Thr236Ser)
c.673A>T (p.Thr225Ser)
3g.189864365C>ACA355753684TP63c.713C>A (p.Thr238Lys)
c.431C>A (p.Thr144Lys)
c.176C>A (p.Thr59Lys)
n.537C>A
c.662C>A (p.Thr221Lys)
c.710C>A (p.Thr237Lys)
c.707C>A (p.Thr236Lys)
c.674C>A (p.Thr225Lys)
3g.189864365C=CA1428525450TP63c.713C= (p.Thr238=)
c.431C= (p.Thr144=)
c.176C= (p.Thr59=)
n.537C=
c.662C= (p.Thr221=)
c.710C= (p.Thr237=)
c.707C= (p.Thr236=)
c.674C= (p.Thr225=)
3g.189864365C>GCA355753686TP63c.713C>G (p.Thr238Arg)
c.431C>G (p.Thr144Arg)
c.176C>G (p.Thr59Arg)
n.537C>G
c.662C>G (p.Thr221Arg)
c.710C>G (p.Thr237Arg)
c.707C>G (p.Thr236Arg)
c.674C>G (p.Thr225Arg)
3g.189864365C>TCA89742094TP63c.713C>T (p.Thr238Met)
c.431C>T (p.Thr144Met)
c.176C>T (p.Thr59Met)
n.537C>T
c.662C>T (p.Thr221Met)
c.710C>T (p.Thr237Met)
c.707C>T (p.Thr236Met)
c.674C>T (p.Thr225Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.189864366G>ACA2752231TP63c.714G>A (p.Thr238=)
c.432G>A (p.Thr144=)
c.177G>A (p.Thr59=)
n.538G>A
c.663G>A (p.Thr221=)
c.711G>A (p.Thr237=)
c.708G>A (p.Thr236=)
c.675G>A (p.Thr225=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189864366G>CCA437412950TP63c.714G>C (p.Thr238=)
c.432G>C (p.Thr144=)
c.177G>C (p.Thr59=)
n.538G>C
c.663G>C (p.Thr221=)
c.711G>C (p.Thr237=)
c.708G>C (p.Thr236=)
c.675G>C (p.Thr225=)
3g.189864366G=CA1428525451TP63c.714G= (p.Thr238=)
c.432G= (p.Thr144=)
c.177G= (p.Thr59=)
n.538G=
c.663G= (p.Thr221=)
c.711G= (p.Thr237=)
c.708G= (p.Thr236=)
c.675G= (p.Thr225=)
3g.189864366G>TCA437412951TP63c.714G>T (p.Thr238=)
c.432G>T (p.Thr144=)
c.177G>T (p.Thr59=)
n.538G>T
c.663G>T (p.Thr221=)
c.711G>T (p.Thr237=)
c.708G>T (p.Thr236=)
c.675G>T (p.Thr225=)
3g.189864367G>ACA355753689TP63c.715G>A (p.Glu239Lys)
c.433G>A (p.Glu145Lys)
c.178G>A (p.Glu60Lys)
n.539G>A
c.664G>A (p.Glu222Lys)
c.712G>A (p.Glu238Lys)
c.709G>A (p.Glu237Lys)
c.676G>A (p.Glu226Lys)
3g.189864367G>CCA355753691TP63c.715G>C (p.Glu239Gln)
c.433G>C (p.Glu145Gln)
c.178G>C (p.Glu60Gln)
n.539G>C
c.664G>C (p.Glu222Gln)
c.712G>C (p.Glu238Gln)
c.709G>C (p.Glu237Gln)
c.676G>C (p.Glu226Gln)
3g.189864367G>TCA355753693TP63c.715G>T (p.Glu239Ter)
c.433G>T (p.Glu145Ter)
c.178G>T (p.Glu60Ter)
n.539G>T
c.664G>T (p.Glu222Ter)
c.712G>T (p.Glu238Ter)
c.709G>T (p.Glu237Ter)
c.676G>T (p.Glu226Ter)
3g.189864368A>CCA355753694TP63c.716A>C (p.Glu239Ala)
c.434A>C (p.Glu145Ala)
c.179A>C (p.Glu60Ala)
n.540A>C
c.665A>C (p.Glu222Ala)
c.713A>C (p.Glu238Ala)
c.710A>C (p.Glu237Ala)
c.677A>C (p.Glu226Ala)
3g.189864368A>GCA355753696TP63c.716A>G (p.Glu239Gly)
c.434A>G (p.Glu145Gly)
c.179A>G (p.Glu60Gly)
n.540A>G
c.665A>G (p.Glu222Gly)
c.713A>G (p.Glu238Gly)
c.710A>G (p.Glu237Gly)
c.677A>G (p.Glu226Gly)
3g.189864368A>TCA355753698TP63c.716A>T (p.Glu239Val)
c.434A>T (p.Glu145Val)
c.179A>T (p.Glu60Val)
n.540A>T
c.665A>T (p.Glu222Val)
c.713A>T (p.Glu238Val)
c.710A>T (p.Glu237Val)
c.677A>T (p.Glu226Val)
3g.189864369G>ACA437412952TP63c.717G>A (p.Glu239=)
c.435G>A (p.Glu145=)
c.180G>A (p.Glu60=)
n.541G>A
c.666G>A (p.Glu222=)
c.714G>A (p.Glu238=)
c.711G>A (p.Glu237=)
c.678G>A (p.Glu226=)
gnomAD v4
3g.189864369G>CCA355753699TP63c.717G>C (p.Glu239Asp)
c.435G>C (p.Glu145Asp)
c.180G>C (p.Glu60Asp)
n.541G>C
c.666G>C (p.Glu222Asp)
c.714G>C (p.Glu238Asp)
c.711G>C (p.Glu237Asp)
c.678G>C (p.Glu226Asp)
3g.189864369G>TCA355753700TP63c.717G>T (p.Glu239Asp)
c.435G>T (p.Glu145Asp)
c.180G>T (p.Glu60Asp)
n.541G>T
c.666G>T (p.Glu222Asp)
c.714G>T (p.Glu238Asp)
c.711G>T (p.Glu237Asp)
c.678G>T (p.Glu226Asp)
3g.189864370G>ACA355753702TP63c.718G>A (p.Val240Met)
c.436G>A (p.Val146Met)
c.181G>A (p.Val61Met)
n.542G>A
c.667G>A (p.Val223Met)
c.715G>A (p.Val239Met)
c.712G>A (p.Val238Met)
c.679G>A (p.Val227Met)
gnomAD v4
3g.189864370G>CCA355753704TP63c.718G>C (p.Val240Leu)
c.436G>C (p.Val146Leu)
c.181G>C (p.Val61Leu)
n.542G>C
c.667G>C (p.Val223Leu)
c.715G>C (p.Val239Leu)
c.712G>C (p.Val238Leu)
c.679G>C (p.Val227Leu)
3g.189864370G>TCA355753706TP63c.718G>T (p.Val240Leu)
c.436G>T (p.Val146Leu)
c.181G>T (p.Val61Leu)
n.542G>T
c.667G>T (p.Val223Leu)
c.715G>T (p.Val239Leu)
c.712G>T (p.Val238Leu)
c.679G>T (p.Val227Leu)
3g.189864371T>ACA355753707TP63c.719T>A (p.Val240Glu)
c.437T>A (p.Val146Glu)
c.182T>A (p.Val61Glu)
n.543T>A
c.668T>A (p.Val223Glu)
c.716T>A (p.Val239Glu)
c.713T>A (p.Val238Glu)
c.680T>A (p.Val227Glu)
3g.189864371T>CCA355753709TP63c.719T>C (p.Val240Ala)
c.437T>C (p.Val146Ala)
c.182T>C (p.Val61Ala)
n.543T>C
c.668T>C (p.Val223Ala)
c.716T>C (p.Val239Ala)
c.713T>C (p.Val238Ala)
c.680T>C (p.Val227Ala)
dbSNP gnomAD v4
3g.189864371T>GCA355753711TP63c.719T>G (p.Val240Gly)
c.437T>G (p.Val146Gly)
c.182T>G (p.Val61Gly)
n.543T>G
c.668T>G (p.Val223Gly)
c.716T>G (p.Val239Gly)
c.713T>G (p.Val238Gly)
c.680T>G (p.Val227Gly)
3g.189864371T=CA1428525452TP63c.719T= (p.Val240=)
c.437T= (p.Val146=)
c.182T= (p.Val61=)
n.543T=
c.668T= (p.Val223=)
c.716T= (p.Val239=)
c.713T= (p.Val238=)
c.680T= (p.Val227=)
3g.189864372G>ACA437412953TP63c.720G>A (p.Val240=)
c.438G>A (p.Val146=)
c.183G>A (p.Val61=)
n.544G>A
c.669G>A (p.Val223=)
c.717G>A (p.Val239=)
c.714G>A (p.Val238=)
c.681G>A (p.Val227=)
3g.189864372G>CCA437412954TP63c.720G>C (p.Val240=)
c.438G>C (p.Val146=)
c.183G>C (p.Val61=)
n.544G>C
c.669G>C (p.Val223=)
c.717G>C (p.Val239=)
c.714G>C (p.Val238=)
c.681G>C (p.Val227=)
3g.189864372G>TCA437412955TP63c.720G>T (p.Val240=)
c.438G>T (p.Val146=)
c.183G>T (p.Val61=)
n.544G>T
c.669G>T (p.Val223=)
c.717G>T (p.Val239=)
c.714G>T (p.Val238=)
c.681G>T (p.Val227=)
gnomAD v4
3g.189864373G>ACA355753713TP63c.721G>A (p.Val241Met)
c.439G>A (p.Val147Met)
c.184G>A (p.Val62Met)
n.545G>A
c.670G>A (p.Val224Met)
c.718G>A (p.Val240Met)
c.715G>A (p.Val239Met)
c.682G>A (p.Val228Met)
3g.189864373G>CCA355753714TP63c.721G>C (p.Val241Leu)
c.439G>C (p.Val147Leu)
c.184G>C (p.Val62Leu)
n.545G>C
c.670G>C (p.Val224Leu)
c.718G>C (p.Val240Leu)
c.715G>C (p.Val239Leu)
c.682G>C (p.Val228Leu)
3g.189864373G>TCA355753716TP63c.721G>T (p.Val241Leu)
c.439G>T (p.Val147Leu)
c.184G>T (p.Val62Leu)
n.545G>T
c.670G>T (p.Val224Leu)
c.718G>T (p.Val240Leu)
c.715G>T (p.Val239Leu)
c.682G>T (p.Val228Leu)
3g.189864374T>ACA355753718TP63c.722T>A (p.Val241Glu)
c.440T>A (p.Val147Glu)
c.185T>A (p.Val62Glu)
n.546T>A
c.671T>A (p.Val224Glu)
c.719T>A (p.Val240Glu)
c.716T>A (p.Val239Glu)
c.683T>A (p.Val228Glu)
3g.189864374T>CCA355753719TP63c.722T>C (p.Val241Ala)
c.440T>C (p.Val147Ala)
c.185T>C (p.Val62Ala)
n.546T>C
c.671T>C (p.Val224Ala)
c.719T>C (p.Val240Ala)
c.716T>C (p.Val239Ala)
c.683T>C (p.Val228Ala)
3g.189864374T>GCA355753721TP63c.722T>G (p.Val241Gly)
c.440T>G (p.Val147Gly)
c.185T>G (p.Val62Gly)
n.546T>G
c.671T>G (p.Val224Gly)
c.719T>G (p.Val240Gly)
c.716T>G (p.Val239Gly)
c.683T>G (p.Val228Gly)
3g.189864375G>ACA437412956TP63c.723G>A (p.Val241=)
c.441G>A (p.Val147=)
c.186G>A (p.Val62=)
n.547G>A
c.672G>A (p.Val224=)
c.720G>A (p.Val240=)
c.717G>A (p.Val239=)
c.684G>A (p.Val228=)
COSMIC COSMIC COSMIC
3g.189864375G>CCA437412957TP63c.723G>C (p.Val241=)
c.441G>C (p.Val147=)
c.186G>C (p.Val62=)
n.547G>C
c.672G>C (p.Val224=)
c.720G>C (p.Val240=)
c.717G>C (p.Val239=)
c.684G>C (p.Val228=)
3g.189864375G>TCA437412958TP63c.723G>T (p.Val241=)
c.441G>T (p.Val147=)
c.186G>T (p.Val62=)
n.547G>T
c.672G>T (p.Val224=)
c.720G>T (p.Val240=)
c.717G>T (p.Val239=)
c.684G>T (p.Val228=)
3g.189864376A>CCA355753725TP63c.724A>C (p.Lys242Gln)
c.442A>C (p.Lys148Gln)
c.187A>C (p.Lys63Gln)
n.548A>C
c.673A>C (p.Lys225Gln)
c.721A>C (p.Lys241Gln)
c.718A>C (p.Lys240Gln)
c.685A>C (p.Lys229Gln)
3g.189864376A>GCA355753726TP63c.724A>G (p.Lys242Glu)
c.442A>G (p.Lys148Glu)
c.187A>G (p.Lys63Glu)
n.548A>G
c.673A>G (p.Lys225Glu)
c.721A>G (p.Lys241Glu)
c.718A>G (p.Lys240Glu)
c.685A>G (p.Lys229Glu)
3g.189864376A>TCA355753723TP63c.724A>T (p.Lys242Ter)
c.442A>T (p.Lys148Ter)
c.187A>T (p.Lys63Ter)
n.548A>T
c.673A>T (p.Lys225Ter)
c.721A>T (p.Lys241Ter)
c.718A>T (p.Lys240Ter)
c.685A>T (p.Lys229Ter)
3g.189864377A=CA1428525453TP63c.725A= (p.Lys242=)
c.443A= (p.Lys148=)
c.188A= (p.Lys63=)
n.549A=
c.674A= (p.Lys225=)
c.722A= (p.Lys241=)
c.719A= (p.Lys240=)
c.686A= (p.Lys229=)
3g.189864377A>CCA355753728TP63c.725A>C (p.Lys242Thr)
c.443A>C (p.Lys148Thr)
c.188A>C (p.Lys63Thr)
n.549A>C
c.674A>C (p.Lys225Thr)
c.722A>C (p.Lys241Thr)
c.719A>C (p.Lys240Thr)
c.686A>C (p.Lys229Thr)
3g.189864377A>GCA89742104TP63c.725A>G (p.Lys242Arg)
c.443A>G (p.Lys148Arg)
c.188A>G (p.Lys63Arg)
n.549A>G
c.674A>G (p.Lys225Arg)
c.722A>G (p.Lys241Arg)
c.719A>G (p.Lys240Arg)
c.686A>G (p.Lys229Arg)
ClinVar dbSNP gnomAD v4
3g.189864377A>TCA355753731TP63c.725A>T (p.Lys242Met)
c.443A>T (p.Lys148Met)
c.188A>T (p.Lys63Met)
n.549A>T
c.674A>T (p.Lys225Met)
c.722A>T (p.Lys241Met)
c.719A>T (p.Lys240Met)
c.686A>T (p.Lys229Met)
3g.189864378G>ACA437412959TP63c.726G>A (p.Lys242=)
c.444G>A (p.Lys148=)
c.189G>A (p.Lys63=)
n.550G>A
c.675G>A (p.Lys225=)
c.723G>A (p.Lys241=)
c.720G>A (p.Lys240=)
c.687G>A (p.Lys229=)
gnomAD v4
3g.189864378G>CCA355753732TP63c.726G>C (p.Lys242Asn)
c.444G>C (p.Lys148Asn)
c.189G>C (p.Lys63Asn)
n.550G>C
c.675G>C (p.Lys225Asn)
c.723G>C (p.Lys241Asn)
c.720G>C (p.Lys240Asn)
c.687G>C (p.Lys229Asn)
gnomAD v4
3g.189864378G>TCA355753733TP63c.726G>T (p.Lys242Asn)
c.444G>T (p.Lys148Asn)
c.189G>T (p.Lys63Asn)
n.550G>T
c.675G>T (p.Lys225Asn)
c.723G>T (p.Lys241Asn)
c.720G>T (p.Lys240Asn)
c.687G>T (p.Lys229Asn)
3g.189864379C>ACA437412960TP63c.727C>A (p.Arg243=)
c.445C>A (p.Arg149=)
c.190C>A (p.Arg64=)
n.551C>A
c.676C>A (p.Arg226=)
c.724C>A (p.Arg242=)
c.721C>A (p.Arg241=)
c.688C>A (p.Arg230=)
3g.189864379C=CA1428525454TP63c.727C= (p.Arg243=)
c.445C= (p.Arg149=)
c.190C= (p.Arg64=)
n.551C=
c.676C= (p.Arg226=)
c.724C= (p.Arg242=)
c.721C= (p.Arg241=)
c.688C= (p.Arg230=)
3g.189864379C>GCA355753735TP63c.727C>G (p.Arg243Gly)
c.445C>G (p.Arg149Gly)
c.190C>G (p.Arg64Gly)
n.551C>G
c.676C>G (p.Arg226Gly)
c.724C>G (p.Arg242Gly)
c.721C>G (p.Arg241Gly)
c.688C>G (p.Arg230Gly)
3g.189864379C>TCA118334TP63c.727C>T (p.Arg243Trp)
c.445C>T (p.Arg149Trp)
c.190C>T (p.Arg64Trp)
n.551C>T
c.676C>T (p.Arg226Trp)
c.724C>T (p.Arg242Trp)
c.721C>T (p.Arg241Trp)
c.688C>T (p.Arg230Trp)
ClinVar dbSNP gnomAD v4
3g.189864380G>ACA118335TP63c.728G>A (p.Arg243Gln)
c.446G>A (p.Arg149Gln)
c.191G>A (p.Arg64Gln)
n.552G>A
c.677G>A (p.Arg226Gln)
c.725G>A (p.Arg242Gln)
c.722G>A (p.Arg241Gln)
c.689G>A (p.Arg230Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.189864380G>CCA355753737TP63c.728G>C (p.Arg243Pro)
c.446G>C (p.Arg149Pro)
c.191G>C (p.Arg64Pro)
n.552G>C
c.677G>C (p.Arg226Pro)
c.725G>C (p.Arg242Pro)
c.722G>C (p.Arg241Pro)
c.689G>C (p.Arg230Pro)
3g.189864380G=CA1428525455TP63c.728G= (p.Arg243=)
c.446G= (p.Arg149=)
c.191G= (p.Arg64=)
n.552G=
c.677G= (p.Arg226=)
c.725G= (p.Arg242=)
c.722G= (p.Arg241=)
c.689G= (p.Arg230=)
3g.189864380G>TCA355753738TP63c.728G>T (p.Arg243Leu)
c.446G>T (p.Arg149Leu)
c.191G>T (p.Arg64Leu)
n.552G>T
c.677G>T (p.Arg226Leu)
c.725G>T (p.Arg242Leu)
c.722G>T (p.Arg241Leu)
c.689G>T (p.Arg230Leu)
3g.189864381G>ACA89742126TP63c.729G>A (p.Arg243=)
c.447G>A (p.Arg149=)
c.192G>A (p.Arg64=)
n.553G>A
c.678G>A (p.Arg226=)
c.726G>A (p.Arg242=)
c.723G>A (p.Arg241=)
c.690G>A (p.Arg230=)
dbSNP gnomAD v2 gnomAD v4
3g.189864381G>CCA437412961TP63c.729G>C (p.Arg243=)
c.447G>C (p.Arg149=)
c.192G>C (p.Arg64=)
n.553G>C
c.678G>C (p.Arg226=)
c.726G>C (p.Arg242=)
c.723G>C (p.Arg241=)
c.690G>C (p.Arg230=)
3g.189864381G=CA1428525456TP63c.729G= (p.Arg243=)
c.447G= (p.Arg149=)
c.192G= (p.Arg64=)
n.553G=
c.678G= (p.Arg226=)
c.726G= (p.Arg242=)
c.723G= (p.Arg241=)
c.690G= (p.Arg230=)
3g.189864381G>TCA437412962TP63c.729G>T (p.Arg243=)
c.447G>T (p.Arg149=)
c.192G>T (p.Arg64=)
n.553G>T
c.678G>T (p.Arg226=)
c.726G>T (p.Arg242=)
c.723G>T (p.Arg241=)
c.690G>T (p.Arg230=)
dbSNP gnomAD v4
3g.189864382T>ACA355753739TP63c.730T>A (p.Cys244Ser)
c.448T>A (p.Cys150Ser)
c.193T>A (p.Cys65Ser)
n.554T>A
c.679T>A (p.Cys227Ser)
c.727T>A (p.Cys243Ser)
c.724T>A (p.Cys242Ser)
c.691T>A (p.Cys231Ser)
3g.189864382T>CCA355753740TP63c.730T>C (p.Cys244Arg)
c.448T>C (p.Cys150Arg)
c.193T>C (p.Cys65Arg)
n.554T>C
c.679T>C (p.Cys227Arg)
c.727T>C (p.Cys243Arg)
c.724T>C (p.Cys242Arg)
c.691T>C (p.Cys231Arg)
ClinVar
3g.189864382T>GCA355753741TP63c.730T>G (p.Cys244Gly)
c.448T>G (p.Cys150Gly)
c.193T>G (p.Cys65Gly)
n.554T>G
c.679T>G (p.Cys227Gly)
c.727T>G (p.Cys243Gly)
c.724T>G (p.Cys242Gly)
c.691T>G (p.Cys231Gly)
3g.189864383G>ACA355753746TP63c.731G>A (p.Cys244Tyr)
c.449G>A (p.Cys150Tyr)
c.194G>A (p.Cys65Tyr)
n.555G>A
c.680G>A (p.Cys227Tyr)
c.728G>A (p.Cys243Tyr)
c.725G>A (p.Cys242Tyr)
c.692G>A (p.Cys231Tyr)
3g.189864383G>CCA355753745TP63c.731G>C (p.Cys244Ser)
c.449G>C (p.Cys150Ser)
c.194G>C (p.Cys65Ser)
n.555G>C
c.680G>C (p.Cys227Ser)
c.728G>C (p.Cys243Ser)
c.725G>C (p.Cys242Ser)
c.692G>C (p.Cys231Ser)
3g.189864383G>TCA355753744TP63c.731G>T (p.Cys244Phe)
c.449G>T (p.Cys150Phe)
c.194G>T (p.Cys65Phe)
n.555G>T
c.680G>T (p.Cys227Phe)
c.728G>T (p.Cys243Phe)
c.725G>T (p.Cys242Phe)
c.692G>T (p.Cys231Phe)
ClinVar COSMIC
3g.189864384C>ACA355753747TP63c.732C>A (p.Cys244Ter)
c.450C>A (p.Cys150Ter)
c.195C>A (p.Cys65Ter)
n.556C>A
c.681C>A (p.Cys227Ter)
c.729C>A (p.Cys243Ter)
c.726C>A (p.Cys242Ter)
c.693C>A (p.Cys231Ter)
3g.189864384C>GCA355753748TP63c.732C>G (p.Cys244Trp)
c.450C>G (p.Cys150Trp)
c.195C>G (p.Cys65Trp)
n.556C>G
c.681C>G (p.Cys227Trp)
c.729C>G (p.Cys243Trp)
c.726C>G (p.Cys242Trp)
c.693C>G (p.Cys231Trp)
3g.189864384C>TCA437412963TP63c.732C>T (p.Cys244=)
c.450C>T (p.Cys150=)
c.195C>T (p.Cys65=)
n.556C>T
c.681C>T (p.Cys227=)
c.729C>T (p.Cys243=)
c.726C>T (p.Cys242=)
c.693C>T (p.Cys231=)
3g.189864385C>ACA355753752TP63c.733C>A (p.Pro245Thr)
c.451C>A (p.Pro151Thr)
c.196C>A (p.Pro66Thr)
n.557C>A
c.682C>A (p.Pro228Thr)
c.730C>A (p.Pro244Thr)
c.727C>A (p.Pro243Thr)
c.694C>A (p.Pro232Thr)
3g.189864385C>GCA355753754TP63c.733C>G (p.Pro245Ala)
c.451C>G (p.Pro151Ala)
c.196C>G (p.Pro66Ala)
n.557C>G
c.682C>G (p.Pro228Ala)
c.730C>G (p.Pro244Ala)
c.727C>G (p.Pro243Ala)
c.694C>G (p.Pro232Ala)
3g.189864385C>TCA355753755TP63c.733C>T (p.Pro245Ser)
c.451C>T (p.Pro151Ser)
c.196C>T (p.Pro66Ser)
n.557C>T
c.682C>T (p.Pro228Ser)
c.730C>T (p.Pro244Ser)
c.727C>T (p.Pro243Ser)
c.694C>T (p.Pro232Ser)

Number of alleles fetched