Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.93218655_93218695dupCA2626239399UBR7c.730_770dup (p.Ser257ArgfsTer11)
c.502_542dup (p.Ser181ArgfsTer11)
c.*431_*471dup (n.*431_*471dup)
c.378+3374_378+3414dup
n.832_872dup
n.632_672dup
 gnomAD v4
14g.93218661G>ACA7319915UBR7c.736G>A (p.Asp246Asn)
c.508G>A (p.Asp170Asn)
c.*437G>A (n.*437G>A)
c.378+3380G>A
c.445G>A (p.Asp149Asn)
n.838G>A
n.638G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218661G>CCA390811112UBR7c.736G>C (p.Asp246His)
c.508G>C (p.Asp170His)
c.*437G>C (n.*437G>C)
c.378+3380G>C
c.445G>C (p.Asp149His)
n.838G>C
n.638G>C
14g.93218661G=CA2155441062UBR7c.736G= (p.Asp246=)
c.508G= (p.Asp170=)
c.*437G= (n.*437G=)
c.378+3380G=
c.445G= (p.Asp149=)
n.838G=
n.638G=
14g.93218661G>TCA390811114UBR7c.736G>T (p.Asp246Tyr)
c.508G>T (p.Asp170Tyr)
c.*437G>T (n.*437G>T)
c.378+3380G>T
c.445G>T (p.Asp149Tyr)
n.838G>T
n.638G>T
14g.93218662_93218667delCA2802634124UBR7c.737_742del (p.Asp246_Asp247del)
c.509_514del (p.Asp170_Asp171del)
c.*438_*443del (n.*438_*443del)
c.378+3381_378+3386del
c.446_451del (p.Asp149_Asp150del)
n.839_844del
n.639_644del
14g.93218661_93218662insTCACGGGTTTGAGACCAGCCTTGGCAACATGGGTAAACCTCATCTCTACTACA2802634125UBR7c.736_737insTCACGGGTTTGAGACCAGCCTTGGCAACATGGGTAAACCTCATCTCTACTA (p.Asp246delinsValThrGlyLeuArgProAlaLeuAlaThrTrpValAsnLeuIleSerThrAsn)
c.508_509insTCACGGGTTTGAGACCAGCCTTGGCAACATGGGTAAACCTCATCTCTACTA (p.Asp170delinsValThrGlyLeuArgProAlaLeuAlaThrTrpValAsnLeuIleSerThrAsn)
c.*437_*438insTCACGGGTTTGAGACCAGCCTTGGCAACATGGGTAAACCTCATCTCTACTA (n.*437_*438insTCACGGGTTTGAGACCAGCCTTGGCAACATGGGTAAACCTCATCTCTACTA)
c.378+3380_378+3381insTCACGGGTTTGAGACCAGCCTTGGCAACATGGGTAAACCTCATCTCTACTA
c.445_446insTCACGGGTTTGAGACCAGCCTTGGCAACATGGGTAAACCTCATCTCTACTA (p.Asp149delinsValThrGlyLeuArgProAlaLeuAlaThrTrpValAsnLeuIleSerThrAsn)
n.838_839insTCACGGGTTTGAGACCAGCCTTGGCAACATGGGTAAACCTCATCTCTACTA
n.638_639insTCACGGGTTTGAGACCAGCCTTGGCAACATGGGTAAACCTCATCTCTACTA
14g.93218662A=CA2155441063UBR7c.737A= (p.Asp246=)
c.509A= (p.Asp170=)
c.*438A= (n.*438A=)
c.378+3381A=
c.446A= (p.Asp149=)
n.839A=
n.639A=
14g.93218662A>CCA390811116UBR7c.737A>C (p.Asp246Ala)
c.509A>C (p.Asp170Ala)
c.*438A>C (n.*438A>C)
c.378+3381A>C
c.446A>C (p.Asp149Ala)
n.839A>C
n.639A>C
14g.93218662A>GCA7319916UBR7c.737A>G (p.Asp246Gly)
c.509A>G (p.Asp170Gly)
c.*438A>G (n.*438A>G)
c.378+3381A>G
c.446A>G (p.Asp149Gly)
n.839A>G
n.639A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.93218662A>TCA390811118UBR7c.737A>T (p.Asp246Val)
c.509A>T (p.Asp170Val)
c.*438A>T (n.*438A>T)
c.378+3381A>T
c.446A>T (p.Asp149Val)
n.839A>T
n.639A>T
14g.93218663T>ACA390811121UBR7c.738T>A (p.Asp246Glu)
c.510T>A (p.Asp170Glu)
c.*439T>A (n.*439T>A)
c.378+3382T>A
c.447T>A (p.Asp149Glu)
n.840T>A
n.640T>A
14g.93218663T>CCA487594116UBR7c.738T>C (p.Asp246=)
c.510T>C (p.Asp170=)
c.*439T>C (n.*439T>C)
c.378+3382T>C
c.447T>C (p.Asp149=)
n.840T>C
n.640T>C
14g.93218663T>GCA390811122UBR7c.738T>G (p.Asp246Glu)
c.510T>G (p.Asp170Glu)
c.*439T>G (n.*439T>G)
c.378+3382T>G
c.447T>G (p.Asp149Glu)
n.840T>G
n.640T>G
14g.93218664G>ACA390811126UBR7c.739G>A (p.Asp247Asn)
c.511G>A (p.Asp171Asn)
c.*440G>A (n.*440G>A)
c.378+3383G>A
c.448G>A (p.Asp150Asn)
n.841G>A
n.641G>A
 dbSNP
14g.93218664G>CCA390811129UBR7c.739G>C (p.Asp247His)
c.511G>C (p.Asp171His)
c.*440G>C (n.*440G>C)
c.378+3383G>C
c.448G>C (p.Asp150His)
n.841G>C
n.641G>C
14g.93218664G=CA2155441064UBR7c.739G= (p.Asp247=)
c.511G= (p.Asp171=)
c.*440G= (n.*440G=)
c.378+3383G=
c.448G= (p.Asp150=)
n.841G=
n.641G=
14g.93218664G>TCA390811124UBR7c.739G>T (p.Asp247Tyr)
c.511G>T (p.Asp171Tyr)
c.*440G>T (n.*440G>T)
c.378+3383G>T
c.448G>T (p.Asp150Tyr)
n.841G>T
n.641G>T
 gnomAD v4
14g.93218665A=CA2155441065UBR7c.740A= (p.Asp247=)
c.512A= (p.Asp171=)
c.*441A= (n.*441A=)
c.378+3384A=
c.449A= (p.Asp150=)
n.842A=
n.642A=
14g.93218665A>CCA390811130UBR7c.740A>C (p.Asp247Ala)
c.512A>C (p.Asp171Ala)
c.*441A>C (n.*441A>C)
c.378+3384A>C
c.449A>C (p.Asp150Ala)
n.842A>C
n.642A>C
14g.93218665A>GCA390811131UBR7c.740A>G (p.Asp247Gly)
c.512A>G (p.Asp171Gly)
c.*441A>G (n.*441A>G)
c.378+3384A>G
c.449A>G (p.Asp150Gly)
n.842A>G
n.642A>G
 dbSNP gnomAD v4
14g.93218665A>TCA390811133UBR7c.740A>T (p.Asp247Val)
c.512A>T (p.Asp171Val)
c.*441A>T (n.*441A>T)
c.378+3384A>T
c.449A>T (p.Asp150Val)
n.842A>T
n.642A>T
14g.93218666T>ACA390811136UBR7c.741T>A (p.Asp247Glu)
c.513T>A (p.Asp171Glu)
c.*442T>A (n.*442T>A)
c.378+3385T>A
c.450T>A (p.Asp150Glu)
n.843T>A
n.643T>A
14g.93218666T>CCA7319917UBR7c.741T>C (p.Asp247=)
c.513T>C (p.Asp171=)
c.*442T>C (n.*442T>C)
c.378+3385T>C
c.450T>C (p.Asp150=)
n.843T>C
n.643T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218666T>GCA390811139UBR7c.741T>G (p.Asp247Glu)
c.513T>G (p.Asp171Glu)
c.*442T>G (n.*442T>G)
c.378+3385T>G
c.450T>G (p.Asp150Glu)
n.843T>G
n.643T>G
14g.93218666T=CA2155441066UBR7c.741T= (p.Asp247=)
c.513T= (p.Asp171=)
c.*442T= (n.*442T=)
c.378+3385T=
c.450T= (p.Asp150=)
n.843T=
n.643T=
14g.93218667G>ACA390811145UBR7c.742G>A (p.Val248Ile)
c.514G>A (p.Val172Ile)
c.*443G>A (n.*443G>A)
c.378+3386G>A
c.451G>A (p.Val151Ile)
n.844G>A
n.644G>A
14g.93218667G>CCA390811141UBR7c.742G>C (p.Val248Leu)
c.514G>C (p.Val172Leu)
c.*443G>C (n.*443G>C)
c.378+3386G>C
c.451G>C (p.Val151Leu)
n.844G>C
n.644G>C
14g.93218667G>TCA390811143UBR7c.742G>T (p.Val248Phe)
c.514G>T (p.Val172Phe)
c.*443G>T (n.*443G>T)
c.378+3386G>T
c.451G>T (p.Val151Phe)
n.844G>T
n.644G>T
14g.93218668T>ACA390811146UBR7c.743T>A (p.Val248Asp)
c.515T>A (p.Val172Asp)
c.*444T>A (n.*444T>A)
c.378+3387T>A
c.452T>A (p.Val151Asp)
n.845T>A
n.645T>A
14g.93218668T>CCA390811147UBR7c.743T>C (p.Val248Ala)
c.515T>C (p.Val172Ala)
c.*444T>C (n.*444T>C)
c.378+3387T>C
c.452T>C (p.Val151Ala)
n.845T>C
n.645T>C
14g.93218668T>GCA390811149UBR7c.743T>G (p.Val248Gly)
c.515T>G (p.Val172Gly)
c.*444T>G (n.*444T>G)
c.378+3387T>G
c.452T>G (p.Val151Gly)
n.845T>G
n.645T>G
14g.93218669C>ACA487594117UBR7c.744C>A (p.Val248=)
c.516C>A (p.Val172=)
c.*445C>A (n.*445C>A)
c.378+3388C>A
c.453C>A (p.Val151=)
n.846C>A
n.646C>A
14g.93218669C>GCA487594118UBR7c.744C>G (p.Val248=)
c.516C>G (p.Val172=)
c.*445C>G (n.*445C>G)
c.378+3388C>G
c.453C>G (p.Val151=)
n.846C>G
n.646C>G
14g.93218669C>TCA487594119UBR7c.744C>T (p.Val248=)
c.516C>T (p.Val172=)
c.*445C>T (n.*445C>T)
c.378+3388C>T
c.453C>T (p.Val151=)
n.846C>T
n.646C>T
14g.93218669_93218670insACA2802634126UBR7c.744_745insA (p.Arg249ThrfsTer4)
c.516_517insA (p.Arg173ThrfsTer4)
c.*445_*446insA (n.*445_*446insA)
c.378+3388_378+3389insA
c.453_454insA (p.Arg152ThrfsTer?)
n.846_847insA
n.646_647insA
14g.93218670C>ACA487594120UBR7c.745C>A (p.Arg249=)
c.517C>A (p.Arg173=)
c.*446C>A (n.*446C>A)
c.378+3389C>A
c.454C>A (p.Arg152=)
n.847C>A
n.647C>A
 gnomAD v4
14g.93218670C=CA2155441067UBR7c.745C= (p.Arg249=)
c.517C= (p.Arg173=)
c.*446C= (n.*446C=)
c.378+3389C=
c.454C= (p.Arg152=)
n.847C=
n.647C=
14g.93218670C>GCA390811151UBR7c.745C>G (p.Arg249Gly)
c.517C>G (p.Arg173Gly)
c.*446C>G (n.*446C>G)
c.378+3389C>G
c.454C>G (p.Arg152Gly)
n.847C>G
n.647C>G
14g.93218670C>TCA7319918UBR7c.745C>T (p.Arg249Trp)
c.517C>T (p.Arg173Trp)
c.*446C>T (n.*446C>T)
c.378+3389C>T
c.454C>T (p.Arg152Trp)
n.847C>T
n.647C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.93218670_93218671insCAAGACCACATTTCAGACGGCCTTGTCGTGTTTGTGAGTTTTATGGCGTTTTTTAAACCAACGGATGATTGCCATCACATAACCGGACAGGCTGTAACCGAGGAAAAACAGGAAGAGGACGAGCGAACA2570219737UBR7c.745_746insCAAGACCACATTTCAGACGGCCTTGTCGTGTTTGTGAGTTTTATGGCGTTTTTTAAACCAACGGATGATTGCCATCACATAACCGGACAGGCTGTAACCGAGGAAAAACAGGAAGAGGACGAGCGAA (p.Arg249ProfsTer19)
c.517_518insCAAGACCACATTTCAGACGGCCTTGTCGTGTTTGTGAGTTTTATGGCGTTTTTTAAACCAACGGATGATTGCCATCACATAACCGGACAGGCTGTAACCGAGGAAAAACAGGAAGAGGACGAGCGAA (p.Arg173ProfsTer19)
c.*446_*447insCAAGACCACATTTCAGACGGCCTTGTCGTGTTTGTGAGTTTTATGGCGTTTTTTAAACCAACGGATGATTGCCATCACATAACCGGACAGGCTGTAACCGAGGAAAAACAGGAAGAGGACGAGCGAA (n.*446_*447insCAAGACCACATTTCAGACGGCCTTGTCGTGTTTGTGAGTTTTATGGCGTTTTTTAAACCAACGGATGATTGCCATCACATAACCGGACAGGCTGTAACCGAGGAAAAACAGGAAGAGGACGAGCGAA)
c.378+3389_378+3390insCAAGACCACATTTCAGACGGCCTTGTCGTGTTTGTGAGTTTTATGGCGTTTTTTAAACCAACGGATGATTGCCATCACATAACCGGACAGGCTGTAACCGAGGAAAAACAGGAAGAGGACGAGCGAA
c.454_455insCAAGACCACATTTCAGACGGCCTTGTCGTGTTTGTGAGTTTTATGGCGTTTTTTAAACCAACGGATGATTGCCATCACATAACCGGACAGGCTGTAACCGAGGAAAAACAGGAAGAGGACGAGCGAA (p.Arg152ProfsTer19)
n.847_848insCAAGACCACATTTCAGACGGCCTTGTCGTGTTTGTGAGTTTTATGGCGTTTTTTAAACCAACGGATGATTGCCATCACATAACCGGACAGGCTGTAACCGAGGAAAAACAGGAAGAGGACGAGCGAA
n.647_648insCAAGACCACATTTCAGACGGCCTTGTCGTGTTTGTGAGTTTTATGGCGTTTTTTAAACCAACGGATGATTGCCATCACATAACCGGACAGGCTGTAACCGAGGAAAAACAGGAAGAGGACGAGCGAA
14g.93218671G>ACA7319919UBR7c.746G>A (p.Arg249Gln)
c.518G>A (p.Arg173Gln)
c.*447G>A (n.*447G>A)
c.378+3390G>A
c.455G>A (p.Arg152Gln)
n.848G>A
n.648G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218671G>CCA390811156UBR7c.746G>C (p.Arg249Pro)
c.518G>C (p.Arg173Pro)
c.*447G>C (n.*447G>C)
c.378+3390G>C
c.455G>C (p.Arg152Pro)
n.848G>C
n.648G>C
14g.93218671G=CA2155441068UBR7c.746G= (p.Arg249=)
c.518G= (p.Arg173=)
c.*447G= (n.*447G=)
c.378+3390G=
c.455G= (p.Arg152=)
n.848G=
n.648G=
14g.93218671G>TCA390811155UBR7c.746G>T (p.Arg249Leu)
c.518G>T (p.Arg173Leu)
c.*447G>T (n.*447G>T)
c.378+3390G>T
c.455G>T (p.Arg152Leu)
n.848G>T
n.648G>T
14g.93218672G>ACA487594121UBR7c.747G>A (p.Arg249=)
c.519G>A (p.Arg173=)
c.*448G>A (n.*448G>A)
c.378+3391G>A
c.456G>A (p.Arg152=)
n.849G>A
n.649G>A
14g.93218672G>CCA487594122UBR7c.747G>C (p.Arg249=)
c.519G>C (p.Arg173=)
c.*448G>C (n.*448G>C)
c.378+3391G>C
c.456G>C (p.Arg152=)
n.849G>C
n.649G>C
14g.93218672G>TCA487594123UBR7c.747G>T (p.Arg249=)
c.519G>T (p.Arg173=)
c.*448G>T (n.*448G>T)
c.378+3391G>T
c.456G>T (p.Arg152=)
n.849G>T
n.649G>T
14g.93218674_93218676delCA2802634127UBR7c.749_751del (p.Glu250del)
c.521_523del (p.Glu174del)
c.*450_*452del (n.*450_*452del)
c.378+3393_378+3395del
n.851_853del
n.651_653del
14g.93218673G>ACA390811158UBR7c.748G>A (p.Glu250Lys)
c.520G>A (p.Glu174Lys)
c.*449G>A (n.*449G>A)
c.378+3392G>A
c.457G>A
n.850G>A
n.650G>A
 dbSNP gnomAD v4
14g.93218673G>CCA390811160UBR7c.748G>C (p.Glu250Gln)
c.520G>C (p.Glu174Gln)
c.*449G>C (n.*449G>C)
c.378+3392G>C
c.457G>C
n.850G>C
n.650G>C
14g.93218673G=CA2155441069UBR7c.748G= (p.Glu250=)
c.520G= (p.Glu174=)
c.*449G= (n.*449G=)
c.378+3392G=
c.457G=
n.850G=
n.650G=
14g.93218673G>TCA390811162UBR7c.748G>T (p.Glu250Ter)
c.520G>T (p.Glu174Ter)
c.*449G>T (n.*449G>T)
c.378+3392G>T
c.457G>T
n.850G>T
n.650G>T
14g.93218674A=CA2155441070UBR7c.749A= (p.Glu250=)
c.521A= (p.Glu174=)
c.*450A= (n.*450A=)
c.378+3393A=
c.458A=
n.851A=
n.651A=
14g.93218674A>CCA390811164UBR7c.749A>C (p.Glu250Ala)
c.521A>C (p.Glu174Ala)
c.*450A>C (n.*450A>C)
c.378+3393A>C
c.458A>C
n.851A>C
n.651A>C
14g.93218674A>GCA390811168UBR7c.749A>G (p.Glu250Gly)
c.521A>G (p.Glu174Gly)
c.*450A>G (n.*450A>G)
c.378+3393A>G
c.458A>G
n.851A>G
n.651A>G
 dbSNP
14g.93218674A>TCA390811170UBR7c.749A>T (p.Glu250Val)
c.521A>T (p.Glu174Val)
c.*450A>T (n.*450A>T)
c.378+3393A>T
c.458A>T
n.851A>T
n.651A>T
14g.93218675G>ACA487594124UBR7c.750G>A (p.Glu250=)
c.522G>A (p.Glu174=)
c.*451G>A (n.*451G>A)
c.378+3394G>A
n.852G>A
n.652G>A
 gnomAD v4
14g.93218675G>CCA390811172UBR7c.750G>C (p.Glu250Asp)
c.522G>C (p.Glu174Asp)
c.*451G>C (n.*451G>C)
c.378+3394G>C
n.852G>C
n.652G>C
 gnomAD v4
14g.93218675G>TCA390811173UBR7c.750G>T (p.Glu250Asp)
c.522G>T (p.Glu174Asp)
c.*451G>T (n.*451G>T)
c.378+3394G>T
n.852G>T
n.652G>T
14g.93218676G>ACA390811176UBR7c.751G>A (p.Val251Ile)
c.523G>A (p.Val175Ile)
c.*452G>A (n.*452G>A)
c.378+3395G>A
n.853G>A
n.653G>A
14g.93218676G>CCA390811178UBR7c.751G>C (p.Val251Leu)
c.523G>C (p.Val175Leu)
c.*452G>C (n.*452G>C)
c.378+3395G>C
n.853G>C
n.653G>C
14g.93218676G>TCA390811179UBR7c.751G>T (p.Val251Phe)
c.523G>T (p.Val175Phe)
c.*452G>T (n.*452G>T)
c.378+3395G>T
n.853G>T
n.653G>T
14g.93218677T>ACA390811181UBR7c.752T>A (p.Val251Asp)
c.524T>A (p.Val175Asp)
c.*453T>A (n.*453T>A)
c.378+3396T>A
n.854T>A
n.654T>A
14g.93218677T>CCA390811184UBR7c.752T>C (p.Val251Ala)
c.524T>C (p.Val175Ala)
c.*453T>C (n.*453T>C)
c.378+3396T>C
n.854T>C
n.654T>C
14g.93218677T>GCA390811182UBR7c.752T>G (p.Val251Gly)
c.524T>G (p.Val175Gly)
c.*453T>G (n.*453T>G)
c.378+3396T>G
n.854T>G
n.654T>G
14g.93218678T>ACA487594125UBR7c.753T>A (p.Val251=)
c.525T>A (p.Val175=)
c.*454T>A (n.*454T>A)
c.378+3397T>A
n.855T>A
n.655T>A
14g.93218678T>CCA487594126UBR7c.753T>C (p.Val251=)
c.525T>C (p.Val175=)
c.*454T>C (n.*454T>C)
c.378+3397T>C
n.855T>C
n.655T>C
14g.93218678T>GCA487594127UBR7c.753T>G (p.Val251=)
c.525T>G (p.Val175=)
c.*454T>G (n.*454T>G)
c.378+3397T>G
n.855T>G
n.655T>G
14g.93218679A>CCA390811186UBR7c.754A>C (p.Lys252Gln)
c.526A>C (p.Lys176Gln)
c.*455A>C (n.*455A>C)
c.378+3398A>C
n.856A>C
n.656A>C
14g.93218679A>GCA390811187UBR7c.754A>G (p.Lys252Glu)
c.526A>G (p.Lys176Glu)
c.*455A>G (n.*455A>G)
c.378+3398A>G
n.856A>G
n.656A>G
 gnomAD v4
14g.93218679A>TCA390811188UBR7c.754A>T (p.Lys252Ter)
c.526A>T (p.Lys176Ter)
c.*455A>T (n.*455A>T)
c.378+3398A>T
n.856A>T
n.656A>T
14g.93218679_93218682delCA2802634128UBR7c.754_757del (p.Lys252Ter)
c.526_529del (p.Lys176Ter)
c.*455_*458del (n.*455_*458del)
c.378+3398_378+3401del
n.856_859del
n.656_659del
14g.93218680A=CA2155441071UBR7c.755A= (p.Lys252=)
c.527A= (p.Lys176=)
c.*456A= (n.*456A=)
c.378+3399A=
n.857A=
n.657A=
14g.93218680A>CCA7319920UBR7c.755A>C (p.Lys252Thr)
c.527A>C (p.Lys176Thr)
c.*456A>C (n.*456A>C)
c.378+3399A>C
n.857A>C
n.657A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218680A>GCA390811191UBR7c.755A>G (p.Lys252Arg)
c.527A>G (p.Lys176Arg)
c.*456A>G (n.*456A>G)
c.378+3399A>G
n.857A>G
n.657A>G
14g.93218680A>TCA390811192UBR7c.755A>T (p.Lys252Ile)
c.527A>T (p.Lys176Ile)
c.*456A>T (n.*456A>T)
c.378+3399A>T
n.857A>T
n.657A>T
14g.93218681A>CCA390811195UBR7c.756A>C (p.Lys252Asn)
c.528A>C (p.Lys176Asn)
c.*457A>C (n.*457A>C)
c.378+3400A>C
c.1A>C
n.858A>C
n.658A>C
14g.93218681A>GCA487594128UBR7c.756A>G (p.Lys252=)
c.528A>G (p.Lys176=)
c.*457A>G (n.*457A>G)
c.378+3400A>G
c.1A>G
n.858A>G
n.658A>G
14g.93218681A>TCA390811193UBR7c.756A>T (p.Lys252Asn)
c.528A>T (p.Lys176Asn)
c.*457A>T (n.*457A>T)
c.378+3400A>T
c.1A>T
n.858A>T
n.658A>T
14g.93218682G>ACA390811198UBR7c.757G>A (p.Val253Ile)
c.529G>A (p.Val177Ile)
c.*458G>A (n.*458G>A)
c.378+3401G>A
c.2G>A
n.859G>A
n.659G>A
14g.93218682G>CCA390811199UBR7c.757G>C (p.Val253Leu)
c.529G>C (p.Val177Leu)
c.*458G>C (n.*458G>C)
c.378+3401G>C
c.2G>C
n.859G>C
n.659G>C
14g.93218682G=CA2155441072UBR7c.757G= (p.Val253=)
c.529G= (p.Val177=)
c.*458G= (n.*458G=)
c.378+3401G=
c.2G=
n.859G=
n.659G=
14g.93218682G>TCA390811201UBR7c.757G>T (p.Val253Leu)
c.529G>T (p.Val177Leu)
c.*458G>T (n.*458G>T)
c.378+3401G>T
c.2G>T
n.859G>T
n.659G>T
14g.93218682_93218683insAAACA919480347UBR7c.757_758insAAA (p.Val253delinsGluIle)
c.529_530insAAA (p.Val177delinsGluIle)
c.*458_*459insAAA (n.*458_*459insAAA)
c.378+3401_378+3402insAAA
c.2_3insAAA
n.859_860insAAA
n.659_660insAAA
 dbSNP
14g.93218683T>ACA390811202UBR7c.758T>A (p.Val253Glu)
c.530T>A (p.Val177Glu)
c.*459T>A (n.*459T>A)
c.378+3402T>A
c.3T>A
n.860T>A
n.660T>A
 dbSNP
14g.93218683T>CCA390811204UBR7c.758T>C (p.Val253Ala)
c.530T>C (p.Val177Ala)
c.*459T>C (n.*459T>C)
c.378+3402T>C
c.3T>C
n.860T>C
n.660T>C
 gnomAD v4
14g.93218683T>GCA390811206UBR7c.758T>G (p.Val253Gly)
c.530T>G (p.Val177Gly)
c.*459T>G (n.*459T>G)
c.378+3402T>G
c.3T>G
n.860T>G
n.660T>G
14g.93218683T=CA2155441073UBR7c.758T= (p.Val253=)
c.530T= (p.Val177=)
c.*459T= (n.*459T=)
c.378+3402T=
c.3T=
n.860T=
n.660T=
14g.93218684delCA2802634129UBR7c.759del (p.Glu254SerfsTer?)
c.531del (p.Glu178SerfsTer?)
c.*460del (n.*460del)
c.378+3403del
c.4del
n.861del
n.661del
14g.93218684A=CA2155441074UBR7c.759A= (p.Val253=)
c.531A= (p.Val177=)
c.*460A= (n.*460A=)
c.378+3403A=
c.4A=
n.861A=
n.661A=
14g.93218684A>CCA487594129UBR7c.759A>C (p.Val253=)
c.531A>C (p.Val177=)
c.*460A>C (n.*460A>C)
c.378+3403A>C
c.4A>C
n.861A>C
n.661A>C
14g.93218684A>GCA487594130UBR7c.759A>G (p.Val253=)
c.531A>G (p.Val177=)
c.*460A>G (n.*460A>G)
c.378+3403A>G
c.4A>G
n.861A>G
n.661A>G
 dbSNP gnomAD v3 gnomAD v4
14g.93218684A>TCA487594131UBR7c.759A>T (p.Val253=)
c.531A>T (p.Val177=)
c.*460A>T (n.*460A>T)
c.378+3403A>T
c.4A>T
n.861A>T
n.661A>T
14g.93218685G>ACA390811212UBR7c.760G>A (p.Glu254Lys)
c.532G>A (p.Glu178Lys)
c.*461G>A (n.*461G>A)
c.378+3404G>A
c.5G>A
n.862G>A
n.662G>A
 dbSNP
14g.93218685G>CCA390811207UBR7c.760G>C (p.Glu254Gln)
c.532G>C (p.Glu178Gln)
c.*461G>C (n.*461G>C)
c.378+3404G>C
c.5G>C
n.862G>C
n.662G>C
14g.93218685G=CA2155441075UBR7c.760G= (p.Glu254=)
c.532G= (p.Glu178=)
c.*461G= (n.*461G=)
c.378+3404G=
c.5G=
n.862G=
n.662G=
14g.93218685G>TCA390811209UBR7c.760G>T (p.Glu254Ter)
c.532G>T (p.Glu178Ter)
c.*461G>T (n.*461G>T)
c.378+3404G>T
c.5G>T
n.862G>T
n.662G>T
14g.93218686A>CCA390811215UBR7c.761A>C (p.Glu254Ala)
c.533A>C (p.Glu178Ala)
c.*462A>C (n.*462A>C)
c.378+3405A>C
c.6A>C
n.863A>C
n.663A>C
14g.93218686A>GCA390811216UBR7c.761A>G (p.Glu254Gly)
c.533A>G (p.Glu178Gly)
c.*462A>G (n.*462A>G)
c.378+3405A>G
c.6A>G
n.863A>G
n.663A>G
 gnomAD v4
14g.93218686A>TCA390811218UBR7c.761A>T (p.Glu254Val)
c.533A>T (p.Glu178Val)
c.*462A>T (n.*462A>T)
c.378+3405A>T
c.6A>T
n.863A>T
n.663A>T
14g.93218686_93218688delinsAGCCA2155441076UBR7c.761_763delinsAGC (p.Glu254=)
c.533_535delinsAGC (p.Glu178=)
c.*462_*464delinsAGC (n.*462_*464delinsAGC)
c.378+3405_378+3407delinsAGC
c.6_8delinsAGC
n.863_865delinsAGC
n.663_665delinsAGC
14g.93218688_93218690delCA2802634130UBR7c.763_765del (p.Gln255del)
c.535_537del (p.Gln179del)
c.*464_*466del (n.*464_*466del)
c.378+3407_378+3409del
c.8_10del
n.865_867del
n.665_667del
14g.93218687G>ACA487594132UBR7c.762G>A (p.Glu254=)
c.534G>A (p.Glu178=)
c.*463G>A (n.*463G>A)
c.378+3406G>A
c.7G>A
n.864G>A
n.664G>A
 gnomAD v4
14g.93218687G>CCA390811219UBR7c.762G>C (p.Glu254Asp)
c.534G>C (p.Glu178Asp)
c.*463G>C (n.*463G>C)
c.378+3406G>C
c.7G>C
n.864G>C
n.664G>C
14g.93218687G>TCA390811221UBR7c.762G>T (p.Glu254Asp)
c.534G>T (p.Glu178Asp)
c.*463G>T (n.*463G>T)
c.378+3406G>T
c.7G>T
n.864G>T
n.664G>T
14g.93218687_93218688delCA919480348UBR7c.762_763del (p.Gln255GlufsTer3)
c.534_535del (p.Gln179GlufsTer3)
c.*463_*464del (n.*463_*464del)
c.378+3406_378+3407del
c.7_8del
n.864_865del
n.664_665del
 dbSNP
14g.93218688C>ACA390811223UBR7c.763C>A (p.Gln255Lys)
c.535C>A (p.Gln179Lys)
c.*464C>A (n.*464C>A)
c.378+3407C>A
c.8C>A
n.865C>A
n.665C>A
14g.93218688C>GCA390811225UBR7c.763C>G (p.Gln255Glu)
c.535C>G (p.Gln179Glu)
c.*464C>G (n.*464C>G)
c.378+3407C>G
c.8C>G
n.865C>G
n.665C>G
14g.93218688C>TCA390811227UBR7c.763C>T (p.Gln255Ter)
c.535C>T (p.Gln179Ter)
c.*464C>T (n.*464C>T)
c.378+3407C>T
c.8C>T
n.865C>T
n.665C>T
14g.93218689A>CCA390811229UBR7c.764A>C (p.Gln255Pro)
c.536A>C (p.Gln179Pro)
c.*465A>C (n.*465A>C)
c.378+3408A>C
c.9A>C
n.866A>C
n.666A>C
14g.93218689A>GCA390811230UBR7c.764A>G (p.Gln255Arg)
c.536A>G (p.Gln179Arg)
c.*465A>G (n.*465A>G)
c.378+3408A>G
c.9A>G
n.866A>G
n.666A>G
14g.93218689A>TCA390811231UBR7c.764A>T (p.Gln255Leu)
c.536A>T (p.Gln179Leu)
c.*465A>T (n.*465A>T)
c.378+3408A>T
c.9A>T
n.866A>T
n.666A>T
14g.93218690G>ACA487594133UBR7c.765G>A (p.Gln255=)
c.537G>A (p.Gln179=)
c.*466G>A (n.*466G>A)
c.378+3409G>A
c.10G>A
n.867G>A
n.667G>A
 dbSNP gnomAD v2 gnomAD v4
14g.93218690G>CCA390811234UBR7c.765G>C (p.Gln255His)
c.537G>C (p.Gln179His)
c.*466G>C (n.*466G>C)
c.378+3409G>C
c.10G>C
n.867G>C
n.667G>C
14g.93218690G=CA2155441077UBR7c.765G= (p.Gln255=)
c.537G= (p.Gln179=)
c.*466G= (n.*466G=)
c.378+3409G=
c.10G=
n.867G=
n.667G=
14g.93218690G>TCA390811235UBR7c.765G>T (p.Gln255His)
c.537G>T (p.Gln179His)
c.*466G>T (n.*466G>T)
c.378+3409G>T
c.10G>T
n.867G>T
n.667G>T
14g.93218691A>CCA390811240UBR7c.766A>C (p.Asn256His)
c.538A>C (p.Asn180His)
c.*467A>C (n.*467A>C)
c.378+3410A>C
c.11A>C
n.868A>C
n.668A>C
14g.93218691A>GCA390811245UBR7c.766A>G (p.Asn256Asp)
c.538A>G (p.Asn180Asp)
c.*467A>G (n.*467A>G)
c.378+3410A>G
c.11A>G
n.868A>G
n.668A>G
14g.93218691A>TCA390811242UBR7c.766A>T (p.Asn256Tyr)
c.538A>T (p.Asn180Tyr)
c.*467A>T (n.*467A>T)
c.378+3410A>T
c.11A>T
n.868A>T
n.668A>T
14g.93218692A>CCA390811248UBR7c.767A>C (p.Asn256Thr)
c.539A>C (p.Asn180Thr)
c.*468A>C (n.*468A>C)
c.378+3411A>C
c.12A>C
n.869A>C
n.669A>C
14g.93218692A>GCA390811251UBR7c.767A>G (p.Asn256Ser)
c.539A>G (p.Asn180Ser)
c.*468A>G (n.*468A>G)
c.378+3411A>G
c.12A>G
n.869A>G
n.669A>G
14g.93218692A>TCA390811252UBR7c.767A>T (p.Asn256Ile)
c.539A>T (p.Asn180Ile)
c.*468A>T (n.*468A>T)
c.378+3411A>T
c.12A>T
n.869A>T
n.669A>T
14g.93218693C>ACA390811256UBR7c.768C>A (p.Asn256Lys)
c.540C>A (p.Asn180Lys)
c.*469C>A (n.*469C>A)
c.378+3412C>A
c.13C>A
n.870C>A
n.670C>A
 dbSNP
14g.93218693C=CA2155441078UBR7c.768C= (p.Asn256=)
c.540C= (p.Asn180=)
c.*469C= (n.*469C=)
c.378+3412C=
c.13C=
n.870C=
n.670C=
14g.93218693C>GCA390811263UBR7c.768C>G (p.Asn256Lys)
c.540C>G (p.Asn180Lys)
c.*469C>G (n.*469C>G)
c.378+3412C>G
c.13C>G
n.870C>G
n.670C>G
14g.93218693C>TCA487594134UBR7c.768C>T (p.Asn256=)
c.540C>T (p.Asn180=)
c.*469C>T (n.*469C>T)
c.378+3412C>T
c.13C>T
n.870C>T
n.670C>T
 dbSNP
14g.93218694A>CCA390811267UBR7c.769A>C (p.Ser257Arg)
c.541A>C (p.Ser181Arg)
c.*470A>C (n.*470A>C)
c.378+3413A>C
c.14A>C
n.871A>C
n.671A>C
14g.93218694A>GCA390811271UBR7c.769A>G (p.Ser257Gly)
c.541A>G (p.Ser181Gly)
c.*470A>G (n.*470A>G)
c.378+3413A>G
c.14A>G
n.871A>G
n.671A>G
14g.93218694A>TCA390811274UBR7c.769A>T (p.Ser257Cys)
c.541A>T (p.Ser181Cys)
c.*470A>T (n.*470A>T)
c.378+3413A>T
c.14A>T
n.871A>T
n.671A>T
14g.93218695G>ACA390811275UBR7c.770G>A (p.Ser257Asn)
c.542G>A (p.Ser181Asn)
c.*471G>A (n.*471G>A)
c.378+3414G>A
c.15G>A
n.872G>A
n.672G>A
14g.93218695G>CCA390811278UBR7c.770G>C (p.Ser257Thr)
c.542G>C (p.Ser181Thr)
c.*471G>C (n.*471G>C)
c.378+3414G>C
c.15G>C
n.872G>C
n.672G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.93218695G=CA2155441079UBR7c.770G= (p.Ser257=)
c.542G= (p.Ser181=)
c.*471G= (n.*471G=)
c.378+3414G=
c.15G=
n.872G=
n.672G=
14g.93218695G>TCA390811283UBR7c.770G>T (p.Ser257Ile)
c.542G>T (p.Ser181Ile)
c.*471G>T (n.*471G>T)
c.378+3414G>T
c.15G>T
n.872G>T
n.672G>T
14g.93218695_93218696insCCTCA2802634131UBR7c.770_771insCCT (p.Ser257_Glu258insLeu)
c.542_543insCCT (p.Ser181_Glu182insLeu)
c.*471_*472insCCT (n.*471_*472insCCT)
c.378+3414_378+3415insCCT
c.15_16insCCT
n.872_873insCCT
n.672_673insCCT
14g.93218696T>ACA390811287UBR7c.771T>A (p.Ser257Arg)
c.543T>A (p.Ser181Arg)
c.*472T>A (n.*472T>A)
c.378+3415T>A
c.16T>A
n.873T>A
n.673T>A
14g.93218696T>CCA487594136UBR7c.771T>C (p.Ser257=)
c.543T>C (p.Ser181=)
c.*472T>C (n.*472T>C)
c.378+3415T>C
c.16T>C
n.873T>C
n.673T>C
14g.93218696T>GCA390811291UBR7c.771T>G (p.Ser257Arg)
c.543T>G (p.Ser181Arg)
c.*472T>G (n.*472T>G)
c.378+3415T>G
c.16T>G
n.873T>G
n.673T>G
14g.93218697G>ACA390811294UBR7c.772G>A (p.Glu258Lys)
c.544G>A (p.Glu182Lys)
c.*473G>A (n.*473G>A)
c.378+3416G>A
c.17G>A
n.874G>A
n.674G>A
14g.93218697G>CCA390811306UBR7c.772G>C (p.Glu258Gln)
c.544G>C (p.Glu182Gln)
c.*473G>C (n.*473G>C)
c.378+3416G>C
c.17G>C
n.874G>C
n.674G>C
14g.93218697G>TCA390811303UBR7c.772G>T (p.Glu258Ter)
c.544G>T (p.Glu182Ter)
c.*473G>T (n.*473G>T)
c.378+3416G>T
c.17G>T
n.874G>T
n.674G>T
 gnomAD v4
14g.93218697_93218698insGCCA2802634132UBR7c.772_773insGC (p.Glu258GlyfsTer?)
c.544_545insGC (p.Glu182GlyfsTer?)
c.*473_*474insGC (n.*473_*474insGC)
c.378+3416_378+3417insGC
c.17_18insGC
n.874_875insGC
n.674_675insGC
14g.93218698A>CCA390811312UBR7c.773A>C (p.Glu258Ala)
c.545A>C (p.Glu182Ala)
c.*474A>C (n.*474A>C)
c.378+3417A>C
c.18A>C
n.875A>C
n.675A>C
14g.93218698A>GCA390811314UBR7c.773A>G (p.Glu258Gly)
c.545A>G (p.Glu182Gly)
c.*474A>G (n.*474A>G)
c.378+3417A>G
c.18A>G
n.875A>G
n.675A>G
14g.93218698A>TCA390811317UBR7c.773A>T (p.Glu258Val)
c.545A>T (p.Glu182Val)
c.*474A>T (n.*474A>T)
c.378+3417A>T
c.18A>T
n.875A>T
n.675A>T
14g.93218699A>CCA390811320UBR7c.774A>C (p.Glu258Asp)
c.546A>C (p.Glu182Asp)
c.*475A>C (n.*475A>C)
c.378+3418A>C
c.19A>C
n.876A>C
n.676A>C
14g.93218699A>GCA487594137UBR7c.774A>G (p.Glu258=)
c.546A>G (p.Glu182=)
c.*475A>G (n.*475A>G)
c.378+3418A>G
c.19A>G
n.876A>G
n.676A>G
14g.93218699A>TCA390811323UBR7c.774A>T (p.Glu258Asp)
c.546A>T (p.Glu182Asp)
c.*475A>T (n.*475A>T)
c.378+3418A>T
c.19A>T
n.876A>T
n.676A>T
14g.93218700C>ACA390811329UBR7c.775C>A (p.Pro259Thr)
c.547C>A (p.Pro183Thr)
c.*476C>A (n.*476C>A)
c.378+3419C>A
c.20C>A
n.877C>A
n.677C>A
14g.93218700C>GCA390811330UBR7c.775C>G (p.Pro259Ala)
c.547C>G (p.Pro183Ala)
c.*476C>G (n.*476C>G)
c.378+3419C>G
c.20C>G
n.877C>G
n.677C>G
14g.93218700C>TCA390811331UBR7c.775C>T (p.Pro259Ser)
c.547C>T (p.Pro183Ser)
c.*476C>T (n.*476C>T)
c.378+3419C>T
c.20C>T
n.877C>T
n.677C>T
14g.93218701delCA2802634133UBR7c.776del (p.Pro259HisfsTer?)
c.548del (p.Pro183HisfsTer?)
c.*477del (n.*477del)
c.378+3420del
c.21del
n.878del
n.678del
14g.93218701C>ACA390811336UBR7c.776C>A (p.Pro259Gln)
c.548C>A (p.Pro183Gln)
c.*477C>A (n.*477C>A)
c.378+3420C>A
c.21C>A
n.878C>A
n.678C>A
14g.93218701C>GCA390811339UBR7c.776C>G (p.Pro259Arg)
c.548C>G (p.Pro183Arg)
c.*477C>G (n.*477C>G)
c.378+3420C>G
c.21C>G
n.878C>G
n.678C>G
14g.93218701C>TCA390811341UBR7c.776C>T (p.Pro259Leu)
c.548C>T (p.Pro183Leu)
c.*477C>T (n.*477C>T)
c.378+3420C>T
c.21C>T
n.878C>T
n.678C>T
14g.93218702A>CCA487594138UBR7c.777A>C (p.Pro259=)
c.549A>C (p.Pro183=)
c.*478A>C (n.*478A>C)
c.378+3421A>C
c.22A>C
n.879A>C
n.679A>C
14g.93218702A>GCA487594139UBR7c.777A>G (p.Pro259=)
c.549A>G (p.Pro183=)
c.*478A>G (n.*478A>G)
c.378+3421A>G
c.22A>G
n.879A>G
n.679A>G
 gnomAD v4 COSMIC
14g.93218702A>TCA487594140UBR7c.777A>T (p.Pro259=)
c.549A>T (p.Pro183=)
c.*478A>T (n.*478A>T)
c.378+3421A>T
c.22A>T
n.879A>T
n.679A>T
14g.93218703T>ACA390811345UBR7c.778T>A (p.Cys260Ser)
c.550T>A (p.Cys184Ser)
c.*479T>A (n.*479T>A)
c.378+3422T>A
c.23T>A
n.880T>A
n.680T>A
14g.93218703T>CCA7319921UBR7c.778T>C (p.Cys260Arg)
c.550T>C (p.Cys184Arg)
c.*479T>C (n.*479T>C)
c.378+3422T>C
c.23T>C
n.880T>C
n.680T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.93218703T>GCA390811343UBR7c.778T>G (p.Cys260Gly)
c.550T>G (p.Cys184Gly)
c.*479T>G (n.*479T>G)
c.378+3422T>G
c.23T>G
n.880T>G
n.680T>G
14g.93218703T=CA2155441080UBR7c.778T= (p.Cys260=)
c.550T= (p.Cys184=)
c.*479T= (n.*479T=)
c.378+3422T=
c.23T=
n.880T=
n.680T=
14g.93218704G>ACA7319922UBR7c.779G>A (p.Cys260Tyr)
c.551G>A (p.Cys184Tyr)
c.*480G>A (n.*480G>A)
c.378+3423G>A
c.24G>A
n.881G>A
n.681G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218704G>CCA390811352UBR7c.779G>C (p.Cys260Ser)
c.551G>C (p.Cys184Ser)
c.*480G>C (n.*480G>C)
c.378+3423G>C
c.24G>C
n.881G>C
n.681G>C
14g.93218704G=CA2155441081UBR7c.779G= (p.Cys260=)
c.551G= (p.Cys184=)
c.*480G= (n.*480G=)
c.378+3423G=
c.24G=
n.881G=
n.681G=
14g.93218704G>TCA7319923UBR7c.779G>T (p.Cys260Phe)
c.551G>T (p.Cys184Phe)
c.*480G>T (n.*480G>T)
c.378+3423G>T
c.24G>T
n.881G>T
n.681G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.93218705T>ACA390811361UBR7c.780T>A (p.Cys260Ter)
c.552T>A (p.Cys184Ter)
c.*481T>A (n.*481T>A)
c.378+3424T>A
c.25T>A
n.882T>A
n.682T>A
14g.93218705T>CCA487594141UBR7c.780T>C (p.Cys260=)
c.552T>C (p.Cys184=)
c.*481T>C (n.*481T>C)
c.378+3424T>C
c.25T>C
n.882T>C
n.682T>C
14g.93218705T>GCA390811364UBR7c.780T>G (p.Cys260Trp)
c.552T>G (p.Cys184Trp)
c.*481T>G (n.*481T>G)
c.378+3424T>G
c.25T>G
n.882T>G
n.682T>G
14g.93218705_93218708delCA2802634134UBR7c.780_783del (p.Cys260TrpfsTer?)
c.552_555del (p.Cys184TrpfsTer?)
c.*481_*484del (n.*481_*484del)
c.378+3424_378+3427del
c.25_28del
n.882_885del
n.682_685del
14g.93218706G>ACA390811368UBR7c.781G>A (p.Ala261Thr)
c.553G>A (p.Ala185Thr)
c.*482G>A (n.*482G>A)
c.378+3425G>A
c.26G>A
n.883G>A
n.683G>A
14g.93218706G>CCA390811370UBR7c.781G>C (p.Ala261Pro)
c.553G>C (p.Ala185Pro)
c.*482G>C (n.*482G>C)
c.378+3425G>C
c.26G>C
n.883G>C
n.683G>C
14g.93218706G>TCA390811371UBR7c.781G>T (p.Ala261Ser)
c.553G>T (p.Ala185Ser)
c.*482G>T (n.*482G>T)
c.378+3425G>T
c.26G>T
n.883G>T
n.683G>T
 gnomAD v4
14g.93218707C>ACA390811374UBR7c.782C>A (p.Ala261Asp)
c.554C>A (p.Ala185Asp)
c.*483C>A (n.*483C>A)
c.378+3426C>A
c.27C>A
n.884C>A
n.684C>A
14g.93218707C>GCA390811376UBR7c.782C>G (p.Ala261Gly)
c.554C>G (p.Ala185Gly)
c.*483C>G (n.*483C>G)
c.378+3426C>G
c.27C>G
n.884C>G
n.684C>G
14g.93218707C>TCA390811380UBR7c.782C>T (p.Ala261Val)
c.554C>T (p.Ala185Val)
c.*483C>T (n.*483C>T)
c.378+3426C>T
c.27C>T
n.884C>T
n.684C>T
14g.93218708C>ACA487594142UBR7c.783C>A (p.Ala261=)
c.555C>A (p.Ala185=)
c.*484C>A (n.*484C>A)
c.378+3427C>A
c.28C>A
n.885C>A
n.685C>A
 gnomAD v4
14g.93218708C=CA2155441082UBR7c.783C= (p.Ala261=)
c.555C= (p.Ala185=)
c.*484C= (n.*484C=)
c.378+3427C=
c.28C=
n.885C=
n.685C=
14g.93218708C>GCA487594143UBR7c.783C>G (p.Ala261=)
c.555C>G (p.Ala185=)
c.*484C>G (n.*484C>G)
c.378+3427C>G
c.28C>G
n.885C>G
n.685C>G
14g.93218708C>TCA7319924UBR7c.783C>T (p.Ala261=)
c.555C>T (p.Ala185=)
c.*484C>T (n.*484C>T)
c.378+3427C>T
c.28C>T
n.885C>T
n.685C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.93218709G>ACA7319925UBR7c.784G>A (p.Gly262Ser)
c.556G>A (p.Gly186Ser)
c.*485G>A (n.*485G>A)
c.378+3428G>A
c.29G>A
n.886G>A
n.686G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218709G>CCA390811386UBR7c.784G>C (p.Gly262Arg)
c.556G>C (p.Gly186Arg)
c.*485G>C (n.*485G>C)
c.378+3428G>C
c.29G>C
n.886G>C
n.686G>C
14g.93218709G=CA2155441083UBR7c.784G= (p.Gly262=)
c.556G= (p.Gly186=)
c.*485G= (n.*485G=)
c.378+3428G=
c.29G=
n.886G=
n.686G=
14g.93218709G>TCA390811389UBR7c.784G>T (p.Gly262Cys)
c.556G>T (p.Gly186Cys)
c.*485G>T (n.*485G>T)
c.378+3428G>T
c.29G>T
n.886G>T
n.686G>T
14g.93218710G>ACA390811398UBR7c.785G>A (p.Gly262Asp)
c.557G>A (p.Gly186Asp)
c.*486G>A (n.*486G>A)
c.378+3429G>A
c.30G>A
n.887G>A
n.687G>A
14g.93218710G>CCA390811395UBR7c.785G>C (p.Gly262Ala)
c.557G>C (p.Gly186Ala)
c.*486G>C (n.*486G>C)
c.378+3429G>C
c.30G>C
n.887G>C
n.687G>C
14g.93218710G=CA2155441084UBR7c.785G= (p.Gly262=)
c.557G= (p.Gly186=)
c.*486G= (n.*486G=)
c.378+3429G=
c.30G=
n.887G=
n.687G=
14g.93218710G>TCA390811392UBR7c.785G>T (p.Gly262Val)
c.557G>T (p.Gly186Val)
c.*486G>T (n.*486G>T)
c.378+3429G>T
c.30G>T
n.887G>T
n.687G>T
 dbSNP gnomAD v4
14g.93218711C>ACA487594146UBR7c.786C>A (p.Gly262=)
c.558C>A (p.Gly186=)
c.*487C>A (n.*487C>A)
c.378+3430C>A
c.31C>A
n.888C>A
n.688C>A
14g.93218711C=CA2155441085UBR7c.786C= (p.Gly262=)
c.558C= (p.Gly186=)
c.*487C= (n.*487C=)
c.378+3430C=
c.31C=
n.888C=
n.688C=
14g.93218711C>GCA487594145UBR7c.786C>G (p.Gly262=)
c.558C>G (p.Gly186=)
c.*487C>G (n.*487C>G)
c.378+3430C>G
c.31C>G
n.888C>G
n.688C>G
14g.93218711C>TCA487594144UBR7c.786C>T (p.Gly262=)
c.558C>T (p.Gly186=)
c.*487C>T (n.*487C>T)
c.378+3430C>T
c.31C>T
n.888C>T
n.688C>T
 dbSNP
14g.93218711_93218713delCA2802634135UBR7c.786_788del (p.Ser263del)
c.558_560del (p.Ser187del)
c.*487_*489del (n.*487_*489del)
c.378+3430_378+3432del
c.31_33del
n.888_890del
n.688_690del
14g.93218712T>ACA390811401UBR7c.787T>A (p.Ser263Thr)
c.559T>A (p.Ser187Thr)
c.*488T>A (n.*488T>A)
c.378+3431T>A
c.32T>A
n.889T>A
n.689T>A
14g.93218712T>CCA390811404UBR7c.787T>C (p.Ser263Pro)
c.559T>C (p.Ser187Pro)
c.*488T>C (n.*488T>C)
c.378+3431T>C
c.32T>C
n.889T>C
n.689T>C
 dbSNP
14g.93218712T>GCA7319926UBR7c.787T>G (p.Ser263Ala)
c.559T>G (p.Ser187Ala)
c.*488T>G (n.*488T>G)
c.378+3431T>G
c.32T>G
n.889T>G
n.689T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218712T=CA2155441086UBR7c.787T= (p.Ser263=)
c.559T= (p.Ser187=)
c.*488T= (n.*488T=)
c.378+3431T=
c.32T=
n.889T=
n.689T=
14g.93218713C>ACA390811410UBR7c.788C>A (p.Ser263Tyr)
c.560C>A (p.Ser187Tyr)
c.*489C>A (n.*489C>A)
c.378+3432C>A
c.33C>A
n.890C>A
n.690C>A
14g.93218713C=CA2155441087UBR7c.788C= (p.Ser263=)
c.560C= (p.Ser187=)
c.*489C= (n.*489C=)
c.378+3432C=
c.33C=
n.890C=
n.690C=
14g.93218713C>GCA390811413UBR7c.788C>G (p.Ser263Cys)
c.560C>G (p.Ser187Cys)
c.*489C>G (n.*489C>G)
c.378+3432C>G
c.33C>G
n.890C>G
n.690C>G
 gnomAD v4 COSMIC
14g.93218713C>TCA390811415UBR7c.788C>T (p.Ser263Phe)
c.560C>T (p.Ser187Phe)
c.*489C>T (n.*489C>T)
c.378+3432C>T
c.33C>T
n.890C>T
n.690C>T
 dbSNP gnomAD v4
14g.93218714T>ACA487594147UBR7c.789T>A (p.Ser263=)
c.561T>A (p.Ser187=)
c.*490T>A (n.*490T>A)
c.378+3433T>A
c.34T>A
n.891T>A
n.691T>A
14g.93218714T>CCA487594148UBR7c.789T>C (p.Ser263=)
c.561T>C (p.Ser187=)
c.*490T>C (n.*490T>C)
c.378+3433T>C
c.34T>C
n.891T>C
n.691T>C
14g.93218714T>GCA487594149UBR7c.789T>G (p.Ser263=)
c.561T>G (p.Ser187=)
c.*490T>G (n.*490T>G)
c.378+3433T>G
c.34T>G
n.891T>G
n.691T>G
14g.93218715A=CA2155441088UBR7c.790A= (p.Ser264=)
c.562A= (p.Ser188=)
c.*491A= (n.*491A=)
c.378+3434A=
c.35A=
n.892A=
n.692A=
14g.93218715A>CCA390811418UBR7c.790A>C (p.Ser264Arg)
c.562A>C (p.Ser188Arg)
c.*491A>C (n.*491A>C)
c.378+3434A>C
c.35A>C
n.892A>C
n.692A>C
14g.93218715A>GCA390811419UBR7c.790A>G (p.Ser264Gly)
c.562A>G (p.Ser188Gly)
c.*491A>G (n.*491A>G)
c.378+3434A>G
c.35A>G
n.892A>G
n.692A>G
 dbSNP gnomAD v2
14g.93218715A>TCA390811420UBR7c.790A>T (p.Ser264Cys)
c.562A>T (p.Ser188Cys)
c.*491A>T (n.*491A>T)
c.378+3434A>T
c.35A>T
n.892A>T
n.692A>T
14g.93218716G>ACA390811422UBR7c.791G>A (p.Ser264Asn)
c.563G>A (p.Ser188Asn)
c.*492G>A (n.*492G>A)
c.378+3435G>A
c.36G>A
n.893G>A
n.693G>A
14g.93218716G>CCA390811425UBR7c.791G>C (p.Ser264Thr)
c.563G>C (p.Ser188Thr)
c.*492G>C (n.*492G>C)
c.378+3435G>C
c.36G>C
n.893G>C
n.693G>C
14g.93218716G>TCA390811428UBR7c.791G>T (p.Ser264Ile)
c.563G>T (p.Ser188Ile)
c.*492G>T (n.*492G>T)
c.378+3435G>T
c.36G>T
n.893G>T
n.693G>T
14g.93218717T>ACA390811430UBR7c.792T>A (p.Ser264Arg)
c.564T>A (p.Ser188Arg)
c.*493T>A (n.*493T>A)
c.378+3436T>A
c.37T>A
n.894T>A
n.694T>A
14g.93218717T>CCA487594150UBR7c.792T>C (p.Ser264=)
c.564T>C (p.Ser188=)
c.*493T>C (n.*493T>C)
c.378+3436T>C
c.37T>C
n.894T>C
n.694T>C
14g.93218717T>GCA390811433UBR7c.792T>G (p.Ser264Arg)
c.564T>G (p.Ser188Arg)
c.*493T>G (n.*493T>G)
c.378+3436T>G
c.37T>G
n.894T>G
n.694T>G
14g.93218718T>ACA390811439UBR7c.793T>A (p.Ser265Thr)
c.565T>A (p.Ser189Thr)
c.*494T>A (n.*494T>A)
c.378+3437T>A
c.38T>A
n.895T>A
n.695T>A
14g.93218718T>CCA390811438UBR7c.793T>C (p.Ser265Pro)
c.565T>C (p.Ser189Pro)
c.*494T>C (n.*494T>C)
c.378+3437T>C
c.38T>C
n.895T>C
n.695T>C
14g.93218718T>GCA390811435UBR7c.793T>G (p.Ser265Ala)
c.565T>G (p.Ser189Ala)
c.*494T>G (n.*494T>G)
c.378+3437T>G
c.38T>G
n.895T>G
n.695T>G
14g.93218719C>ACA390811444UBR7c.794C>A (p.Ser265Tyr)
c.566C>A (p.Ser189Tyr)
c.*495C>A (n.*495C>A)
c.378+3438C>A
c.39C>A
n.896C>A
n.696C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.93218719C=CA2155441089UBR7c.794C= (p.Ser265=)
c.566C= (p.Ser189=)
c.*495C= (n.*495C=)
c.378+3438C=
c.39C=
n.896C=
n.696C=
14g.93218719C>GCA390811447UBR7c.794C>G (p.Ser265Cys)
c.566C>G (p.Ser189Cys)
c.*495C>G (n.*495C>G)
c.378+3438C>G
c.39C>G
n.896C>G
n.696C>G
 dbSNP gnomAD v2 gnomAD v4
14g.93218719C>TCA390811451UBR7c.794C>T (p.Ser265Phe)
c.566C>T (p.Ser189Phe)
c.*495C>T (n.*495C>T)
c.378+3438C>T
c.39C>T
n.896C>T
n.696C>T
14g.93218720T>ACA487594151UBR7c.795T>A (p.Ser265=)
c.567T>A (p.Ser189=)
c.*496T>A (n.*496T>A)
c.378+3439T>A
c.40T>A
n.897T>A
n.697T>A
14g.93218720T>CCA487594152UBR7c.795T>C (p.Ser265=)
c.567T>C (p.Ser189=)
c.*496T>C (n.*496T>C)
c.378+3439T>C
c.40T>C
n.897T>C
n.697T>C
14g.93218720T>GCA487594153UBR7c.795T>G (p.Ser265=)
c.567T>G (p.Ser189=)
c.*496T>G (n.*496T>G)
c.378+3439T>G
c.40T>G
n.897T>G
n.697T>G
14g.93218721G>ACA265761511UBR7c.796G>A (p.Glu266Lys)
c.568G>A (p.Glu190Lys)
c.*497G>A (n.*497G>A)
c.378+3440G>A
c.41G>A
n.898G>A
n.698G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.93218721G>CCA390811456UBR7c.796G>C (p.Glu266Gln)
c.568G>C (p.Glu190Gln)
c.*497G>C (n.*497G>C)
c.378+3440G>C
c.41G>C
n.898G>C
n.698G>C
14g.93218721G=CA2155441090UBR7c.796G= (p.Glu266=)
c.568G= (p.Glu190=)
c.*497G= (n.*497G=)
c.378+3440G=
c.41G=
n.898G=
n.698G=
14g.93218721G>TCA390811465UBR7c.796G>T (p.Glu266Ter)
c.568G>T (p.Glu190Ter)
c.*497G>T (n.*497G>T)
c.378+3440G>T
c.41G>T
n.898G>T
n.698G>T
14g.93218722A>CCA390811478UBR7c.797A>C (p.Glu266Ala)
c.569A>C (p.Glu190Ala)
c.*498A>C (n.*498A>C)
c.378+3441A>C
c.42A>C
n.899A>C
n.699A>C
14g.93218722A>GCA390811471UBR7c.797A>G (p.Glu266Gly)
c.569A>G (p.Glu190Gly)
c.*498A>G (n.*498A>G)
c.378+3441A>G
c.42A>G
n.899A>G
n.699A>G
14g.93218722A>TCA390811474UBR7c.797A>T (p.Glu266Val)
c.569A>T (p.Glu190Val)
c.*498A>T (n.*498A>T)
c.378+3441A>T
c.42A>T
n.899A>T
n.699A>T
14g.93218723A>CCA390811496UBR7c.798A>C (p.Glu266Asp)
c.570A>C (p.Glu190Asp)
c.*499A>C (n.*499A>C)
c.378+3442A>C
c.43A>C
n.900A>C
n.700A>C
14g.93218723A>GCA487594154UBR7c.798A>G (p.Glu266=)
c.570A>G (p.Glu190=)
c.*499A>G (n.*499A>G)
c.378+3442A>G
c.43A>G
n.900A>G
n.700A>G
14g.93218723A>TCA390811499UBR7c.798A>T (p.Glu266Asp)
c.570A>T (p.Glu190Asp)
c.*499A>T (n.*499A>T)
c.378+3442A>T
c.43A>T
n.900A>T
n.700A>T
14g.93218724T>ACA390811507UBR7c.799T>A (p.Ser267Thr)
c.571T>A (p.Ser191Thr)
c.*500T>A (n.*500T>A)
c.378+3443T>A
c.44T>A
n.901T>A
n.701T>A
14g.93218724T>CCA390811510UBR7c.799T>C (p.Ser267Pro)
c.571T>C (p.Ser191Pro)
c.*500T>C (n.*500T>C)
c.378+3443T>C
c.44T>C
n.901T>C
n.701T>C
14g.93218724T>GCA390811513UBR7c.799T>G (p.Ser267Ala)
c.571T>G (p.Ser191Ala)
c.*500T>G (n.*500T>G)
c.378+3443T>G
c.44T>G
n.901T>G
n.701T>G
14g.93218725C>ACA390811523UBR7c.800C>A (p.Ser267Tyr)
c.572C>A (p.Ser191Tyr)
c.*501C>A (n.*501C>A)
c.378+3444C>A
c.45C>A
n.902C>A
n.702C>A
14g.93218725C>GCA390811517UBR7c.800C>G (p.Ser267Cys)
c.572C>G (p.Ser191Cys)
c.*501C>G (n.*501C>G)
c.378+3444C>G
c.45C>G
n.902C>G
n.702C>G
14g.93218725C>TCA390811520UBR7c.800C>T (p.Ser267Phe)
c.572C>T (p.Ser191Phe)
c.*501C>T (n.*501C>T)
c.378+3444C>T
c.45C>T
n.902C>T
n.702C>T
14g.93218726T>ACA487594155UBR7c.801T>A (p.Ser267=)
c.573T>A (p.Ser191=)
c.*502T>A (n.*502T>A)
c.378+3445T>A
c.46T>A
n.903T>A
n.703T>A
14g.93218726T>CCA487594156UBR7c.801T>C (p.Ser267=)
c.573T>C (p.Ser191=)
c.*502T>C (n.*502T>C)
c.378+3445T>C
c.46T>C
n.903T>C
n.703T>C
14g.93218726T>GCA487594157UBR7c.801T>G (p.Ser267=)
c.573T>G (p.Ser191=)
c.*502T>G (n.*502T>G)
c.378+3445T>G
c.46T>G
n.903T>G
n.703T>G
14g.93218727G>ACA390811528UBR7c.802G>A (p.Asp268Asn)
c.574G>A (p.Asp192Asn)
c.*503G>A (n.*503G>A)
c.378+3446G>A
c.47G>A
n.904G>A
n.704G>A
14g.93218727G>CCA390811529UBR7c.802G>C (p.Asp268His)
c.574G>C (p.Asp192His)
c.*503G>C (n.*503G>C)
c.378+3446G>C
c.47G>C
n.904G>C
n.704G>C
14g.93218727G>TCA390811530UBR7c.802G>T (p.Asp268Tyr)
c.574G>T (p.Asp192Tyr)
c.*503G>T (n.*503G>T)
c.378+3446G>T
c.47G>T
n.904G>T
n.704G>T
14g.93218728A>CCA390811532UBR7c.803A>C (p.Asp268Ala)
c.575A>C (p.Asp192Ala)
c.*504A>C (n.*504A>C)
c.378+3447A>C
c.48A>C
n.905A>C
n.705A>C
14g.93218728A>GCA390811535UBR7c.803A>G (p.Asp268Gly)
c.575A>G (p.Asp192Gly)
c.*504A>G (n.*504A>G)
c.378+3447A>G
c.48A>G
n.905A>G
n.705A>G
14g.93218728A>TCA390811550UBR7c.803A>T (p.Asp268Val)
c.575A>T (p.Asp192Val)
c.*504A>T (n.*504A>T)
c.378+3447A>T
c.48A>T
n.905A>T
n.705A>T
 gnomAD v4
14g.93218729T>ACA390811557UBR7c.804T>A (p.Asp268Glu)
c.576T>A (p.Asp192Glu)
c.*505T>A (n.*505T>A)
c.378+3448T>A
c.49T>A
n.906T>A
n.706T>A
14g.93218729T>CCA487594158UBR7c.804T>C (p.Asp268=)
c.576T>C (p.Asp192=)
c.*505T>C (n.*505T>C)
c.378+3448T>C
c.49T>C
n.906T>C
n.706T>C
14g.93218729T>GCA390811560UBR7c.804T>G (p.Asp268Glu)
c.576T>G (p.Asp192Glu)
c.*505T>G (n.*505T>G)
c.378+3448T>G
c.49T>G
n.906T>G
n.706T>G
14g.93218729T=CA2155441091UBR7c.804T= (p.Asp268=)
c.576T= (p.Asp192=)
c.*505T= (n.*505T=)
c.378+3448T=
c.49T=
n.906T=
n.706T=
14g.93218730C>ACA390811568UBR7c.805C>A (p.Leu269Ile)
c.577C>A (p.Leu193Ile)
c.*506C>A (n.*506C>A)
c.378+3449C>A
c.50C>A
n.907C>A
n.707C>A
14g.93218730C=CA2155441092UBR7c.805C= (p.Leu269=)
c.577C= (p.Leu193=)
c.*506C= (n.*506C=)
c.378+3449C=
c.50C=
n.907C=
n.707C=
14g.93218730C>GCA390811571UBR7c.805C>G (p.Leu269Val)
c.577C>G (p.Leu193Val)
c.*506C>G (n.*506C>G)
c.378+3449C>G
c.50C>G
n.907C>G
n.707C>G
14g.93218730C>TCA390811574UBR7c.805C>T (p.Leu269Phe)
c.577C>T (p.Leu193Phe)
c.*506C>T (n.*506C>T)
c.378+3449C>T
c.50C>T
n.907C>T
n.707C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
14g.93218730dupCA7319927UBR7c.805dup (p.Leu269ProfsTer6)
c.577dup (p.Leu193ProfsTer6)
c.*506dup (n.*506dup)
c.378+3449dup
c.50dup
n.907dup
n.707dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218731T>ACA390811580UBR7c.806T>A (p.Leu269His)
c.578T>A (p.Leu193His)
c.*507T>A (n.*507T>A)
c.378+3450T>A
c.51T>A
n.908T>A
n.708T>A
14g.93218731T>CCA390811587UBR7c.806T>C (p.Leu269Pro)
c.578T>C (p.Leu193Pro)
c.*507T>C (n.*507T>C)
c.378+3450T>C
c.51T>C
n.908T>C
n.708T>C
 gnomAD v4
14g.93218731T>GCA390811583UBR7c.806T>G (p.Leu269Arg)
c.578T>G (p.Leu193Arg)
c.*507T>G (n.*507T>G)
c.378+3450T>G
c.51T>G
n.908T>G
n.708T>G
14g.93218732C>ACA487594159UBR7c.807C>A (p.Leu269=)
c.579C>A (p.Leu193=)
c.*508C>A (n.*508C>A)
c.378+3451C>A
c.52C>A
n.909C>A
n.709C>A
14g.93218732C>GCA487594160UBR7c.807C>G (p.Leu269=)
c.579C>G (p.Leu193=)
c.*508C>G (n.*508C>G)
c.378+3451C>G
c.52C>G
n.909C>G
n.709C>G
14g.93218732C>TCA487594161UBR7c.807C>T (p.Leu269=)
c.579C>T (p.Leu193=)
c.*508C>T (n.*508C>T)
c.378+3451C>T
c.52C>T
n.909C>T
n.709C>T
14g.93218733C>ACA390811591UBR7c.808C>A (p.Gln270Lys)
c.580C>A (p.Gln194Lys)
c.*509C>A (n.*509C>A)
c.378+3452C>A
c.53C>A
n.910C>A
n.710C>A
 dbSNP
14g.93218733C=CA2155441093UBR7c.808C= (p.Gln270=)
c.580C= (p.Gln194=)
c.*509C= (n.*509C=)
c.378+3452C=
c.53C=
n.910C=
n.710C=
14g.93218733C>GCA390811601UBR7c.808C>G (p.Gln270Glu)
c.580C>G (p.Gln194Glu)
c.*509C>G (n.*509C>G)
c.378+3452C>G
c.53C>G
n.910C>G
n.710C>G
14g.93218733C>TCA390811597UBR7c.808C>T (p.Gln270Ter)
c.580C>T (p.Gln194Ter)
c.*509C>T (n.*509C>T)
c.378+3452C>T
c.53C>T
n.910C>T
n.710C>T
14g.93218734_93218735insTTTTCACA2514736765UBR7c.809_810insTTTTCA (p.Leu269_Gln270insHisPhe)
c.581_582insTTTTCA (p.Leu193_Gln194insHisPhe)
c.*510_*511insTTTTCA (n.*510_*511insTTTTCA)
c.378+3453_378+3454insTTTTCA
c.54_55insTTTTCA
n.911_912insTTTTCA
n.711_712insTTTTCA
14g.93218734A>CCA390811608UBR7c.809A>C (p.Gln270Pro)
c.581A>C (p.Gln194Pro)
c.*510A>C (n.*510A>C)
c.378+3453A>C
c.54A>C
n.911A>C
n.711A>C
14g.93218734A>GCA390811614UBR7c.809A>G (p.Gln270Arg)
c.581A>G (p.Gln194Arg)
c.*510A>G (n.*510A>G)
c.378+3453A>G
c.54A>G
n.911A>G
n.711A>G
14g.93218734A>TCA390811617UBR7c.809A>T (p.Gln270Leu)
c.581A>T (p.Gln194Leu)
c.*510A>T (n.*510A>T)
c.378+3453A>T
c.54A>T
n.911A>T
n.711A>T
14g.93218735G>ACA487594162UBR7c.810G>A (p.Gln270=)
c.582G>A (p.Gln194=)
c.*511G>A (n.*511G>A)
c.378+3454G>A
c.55G>A
n.912G>A
n.712G>A
14g.93218735G>CCA390811624UBR7c.810G>C (p.Gln270His)
c.582G>C (p.Gln194His)
c.*511G>C (n.*511G>C)
c.378+3454G>C
c.55G>C
n.912G>C
n.712G>C
14g.93218735G>TCA390811627UBR7c.810G>T (p.Gln270His)
c.582G>T (p.Gln194His)
c.*511G>T (n.*511G>T)
c.378+3454G>T
c.55G>T
n.912G>T
n.712G>T
14g.93218736G>ACA390811633UBR7c.810+1G>A (n.810+1G>A)
c.582+1G>A (n.582+1G>A)
c.*511+1G>A (n.*511+1G>A)
c.378+3455G>A
c.55+1G>A
n.912+1G>A
n.712+1G>A
14g.93218736G>CCA390811638UBR7c.810+1G>C (n.810+1G>C)
c.582+1G>C (n.582+1G>C)
c.*511+1G>C (n.*511+1G>C)
c.378+3455G>C
c.55+1G>C
n.912+1G>C
n.712+1G>C
14g.93218736G>TCA390811642UBR7c.810+1G>T (n.810+1G>T)
c.582+1G>T (n.582+1G>T)
c.*511+1G>T (n.*511+1G>T)
c.378+3455G>T
c.55+1G>T
n.912+1G>T
n.712+1G>T
14g.93218737T>ACA390811648UBR7c.810+2T>A (n.810+2T>A)
c.582+2T>A (n.582+2T>A)
c.*511+2T>A (n.*511+2T>A)
c.378+3456T>A
c.55+2T>A
n.912+2T>A
n.712+2T>A
14g.93218737T>CCA390811652UBR7c.810+2T>C (n.810+2T>C)
c.582+2T>C (n.582+2T>C)
c.*511+2T>C (n.*511+2T>C)
c.378+3456T>C
c.55+2T>C
n.912+2T>C
n.712+2T>C
14g.93218737T>GCA390811656UBR7c.810+2T>G (n.810+2T>G)
c.582+2T>G (n.582+2T>G)
c.*511+2T>G (n.*511+2T>G)
c.378+3456T>G
c.55+2T>G
n.912+2T>G
n.712+2T>G
 dbSNP
14g.93218737T=CA2155441094UBR7c.810+2T= (n.810+2T=)
c.582+2T= (n.582+2T=)
c.*511+2T= (n.*511+2T=)
c.378+3456T=
c.55+2T=
n.912+2T=
n.712+2T=
14g.93218737_93218738insTTGATCA2525428547UBR7c.810+2_810+3insTTGAT (n.810+2_810+3insTTGAT)
c.582+2_582+3insTTGAT (n.582+2_582+3insTTGAT)
c.*511+2_*511+3insTTGAT (n.*511+2_*511+3insTTGAT)
c.378+3456_378+3457insTTGAT
c.55+2_55+3insTTGAT
n.912+2_912+3insTTGAT
n.712+2_712+3insTTGAT
14g.93218740T>CCA2155441096UBR7c.810+5T>C (n.810+5T>C)
c.582+5T>C (n.582+5T>C)
c.*511+5T>C (n.*511+5T>C)
c.378+3459T>C
c.55+5T>C
n.912+5T>C
n.712+5T>C
 dbSNP gnomAD v4
14g.93218740T=CA2155441095UBR7c.810+5T= (n.810+5T=)
c.582+5T= (n.582+5T=)
c.*511+5T= (n.*511+5T=)
c.378+3459T=
c.55+5T=
n.912+5T=
n.712+5T=
14g.93218742T>CCA966067047UBR7c.810+7T>C (n.810+7T>C)
c.582+7T>C (n.582+7T>C)
c.*511+7T>C (n.*511+7T>C)
c.378+3461T>C
c.55+7T>C
n.912+7T>C
n.712+7T>C
 dbSNP gnomAD v3 gnomAD v4
14g.93218742T=CA2155441097UBR7c.810+7T= (n.810+7T=)
c.582+7T= (n.582+7T=)
c.*511+7T= (n.*511+7T=)
c.378+3461T=
c.55+7T=
n.912+7T=
n.712+7T=
14g.93218744T>CCA2575610205UBR7c.810+9T>C (n.810+9T>C)
c.582+9T>C (n.582+9T>C)
c.*511+9T>C (n.*511+9T>C)
c.378+3463T>C
c.55+9T>C
n.912+9T>C
n.712+9T>C
14g.93218746A=CA2155441098UBR7c.810+11A= (n.810+11A=)
c.582+11A= (n.582+11A=)
c.*511+11A= (n.*511+11A=)
c.378+3465A=
c.55+11A=
n.912+11A=
n.712+11A=
14g.93218746A>CCA616113853UBR7c.810+11A>C (n.810+11A>C)
c.582+11A>C (n.582+11A>C)
c.*511+11A>C (n.*511+11A>C)
c.378+3465A>C
c.55+11A>C
n.912+11A>C
n.712+11A>C
 dbSNP gnomAD v2 gnomAD v4
14g.93218748G=CA2155441099UBR7c.810+13G= (n.810+13G=)
c.582+13G= (n.582+13G=)
c.*511+13G= (n.*511+13G=)
c.378+3467G=
c.55+13G=
n.912+13G=
n.712+13G=
14g.93218748G>TCA2155441100UBR7c.810+13G>T (n.810+13G>T)
c.582+13G>T (n.582+13G>T)
c.*511+13G>T (n.*511+13G>T)
c.378+3467G>T
c.55+13G>T
n.912+13G>T
n.712+13G>T
 dbSNP
14g.93218749T>CCA616113854UBR7c.810+14T>C (n.810+14T>C)
c.582+14T>C (n.582+14T>C)
c.*511+14T>C (n.*511+14T>C)
c.378+3468T>C
c.55+14T>C
n.912+14T>C
n.712+14T>C
 dbSNP gnomAD v2 gnomAD v4
14g.93218749T=CA2155441101UBR7c.810+14T= (n.810+14T=)
c.582+14T= (n.582+14T=)
c.*511+14T= (n.*511+14T=)
c.378+3468T=
c.55+14T=
n.912+14T=
n.712+14T=
14g.93218750A=CA2155441102UBR7c.810+15A= (n.810+15A=)
c.582+15A= (n.582+15A=)
c.*511+15A= (n.*511+15A=)
c.378+3469A=
c.55+15A=
n.912+15A=
n.712+15A=
14g.93218750A>GCA616113855UBR7c.810+15A>G (n.810+15A>G)
c.582+15A>G (n.582+15A>G)
c.*511+15A>G (n.*511+15A>G)
c.378+3469A>G
c.55+15A>G
n.912+15A>G
n.712+15A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.93218751C>ACA2581190518UBR7c.810+16C>A (n.810+16C>A)
c.582+16C>A (n.582+16C>A)
c.*511+16C>A (n.*511+16C>A)
c.378+3470C>A
c.55+16C>A
n.912+16C>A
n.712+16C>A
 gnomAD v4
14g.93218751C=CA2155441103UBR7c.810+16C= (n.810+16C=)
c.582+16C= (n.582+16C=)
c.*511+16C= (n.*511+16C=)
c.378+3470C=
c.55+16C=
n.912+16C=
n.712+16C=
14g.93218751C>GCA2581190519UBR7c.810+16C>G (n.810+16C>G)
c.582+16C>G (n.582+16C>G)
c.*511+16C>G (n.*511+16C>G)
c.378+3470C>G
c.55+16C>G
n.912+16C>G
n.712+16C>G
14g.93218751C>TCA7319928UBR7c.810+16C>T (n.810+16C>T)
c.582+16C>T (n.582+16C>T)
c.*511+16C>T (n.*511+16C>T)
c.378+3470C>T
c.55+16C>T
n.912+16C>T
n.712+16C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218752G>ACA7319929UBR7c.810+17G>A (n.810+17G>A)
c.582+17G>A (n.582+17G>A)
c.*511+17G>A (n.*511+17G>A)
c.378+3471G>A
c.55+17G>A
n.912+17G>A
n.712+17G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.93218752G>CCA265761531UBR7c.810+17G>C (n.810+17G>C)
c.582+17G>C (n.582+17G>C)
c.*511+17G>C (n.*511+17G>C)
c.378+3471G>C
c.55+17G>C
n.912+17G>C
n.712+17G>C
 dbSNP gnomAD v4
14g.93218752G=CA2155441104UBR7c.810+17G= (n.810+17G=)
c.582+17G= (n.582+17G=)
c.*511+17G= (n.*511+17G=)
c.378+3471G=
c.55+17G=
n.912+17G=
n.712+17G=
14g.93218755C>ACA2626239407UBR7c.810+20C>A (n.810+20C>A)
c.582+20C>A (n.582+20C>A)
c.*511+20C>A (n.*511+20C>A)
c.378+3474C>A
c.55+20C>A
n.912+20C>A
n.712+20C>A
 gnomAD v4
14g.93218755C=CA2155441105UBR7c.810+20C= (n.810+20C=)
c.582+20C= (n.582+20C=)
c.*511+20C= (n.*511+20C=)
c.378+3474C=
c.55+20C=
n.912+20C=
n.712+20C=
14g.93218755C>TCA7319930UBR7c.810+20C>T (n.810+20C>T)
c.582+20C>T (n.582+20C>T)
c.*511+20C>T (n.*511+20C>T)
c.378+3474C>T
c.55+20C>T
n.912+20C>T
n.712+20C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218758T>ACA2155441107UBR7c.810+23T>A (n.810+23T>A)
c.582+23T>A (n.582+23T>A)
c.*511+23T>A (n.*511+23T>A)
c.378+3477T>A
c.55+23T>A
n.912+23T>A
n.712+23T>A
 dbSNP
14g.93218758T>CCA616113856UBR7c.810+23T>C (n.810+23T>C)
c.582+23T>C (n.582+23T>C)
c.*511+23T>C (n.*511+23T>C)
c.378+3477T>C
c.55+23T>C
n.912+23T>C
n.712+23T>C
 dbSNP gnomAD v2 gnomAD v4
14g.93218758T=CA2155441106UBR7c.810+23T= (n.810+23T=)
c.582+23T= (n.582+23T=)
c.*511+23T= (n.*511+23T=)
c.378+3477T=
c.55+23T=
n.912+23T=
n.712+23T=
14g.93218760A=CA2155441108UBR7c.810+25A= (n.810+25A=)
c.582+25A= (n.582+25A=)
c.*511+25A= (n.*511+25A=)
c.378+3479A=
c.55+25A=
n.912+25A=
n.712+25A=
14g.93218760A>CCA7319931UBR7c.810+25A>C (n.810+25A>C)
c.582+25A>C (n.582+25A>C)
c.*511+25A>C (n.*511+25A>C)
c.378+3479A>C
c.55+25A>C
n.912+25A>C
n.712+25A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218761A=CA2155441109UBR7c.810+26A= (n.810+26A=)
c.582+26A= (n.582+26A=)
c.*511+26A= (n.*511+26A=)
c.378+3480A=
c.55+26A=
n.912+26A=
n.712+26A=
14g.93218761A>GCA7319932UBR7c.810+26A>G (n.810+26A>G)
c.582+26A>G (n.582+26A>G)
c.*511+26A>G (n.*511+26A>G)
c.378+3480A>G
c.55+26A>G
n.912+26A>G
n.712+26A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched