Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.70853132T>ACA413607955TEX11c.427A>T (p.Lys143Ter)
c.472A>T (p.Lys158Ter)
Xg.70853132T>CCA413607956TEX11c.427A>G (p.Lys143Glu)
c.472A>G (p.Lys158Glu)
Xg.70853132T>GCA10442900TEX11c.427A>C (p.Lys143Gln)
c.472A>C (p.Lys158Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.70853132T=CA2436261232TEX11c.427A= (p.Lys143=)
c.472A= (p.Lys158=)
Xg.70853133G>ACA516759630TEX11c.426C>T (p.Val142=)
c.471C>T (p.Val157=)
Xg.70853133G>CCA516759633TEX11c.426C>G (p.Val142=)
c.471C>G (p.Val157=)
Xg.70853133G>TCA516759639TEX11c.426C>A (p.Val142=)
c.471C>A (p.Val157=)
Xg.70853134A>CCA413607957TEX11c.425T>G (p.Val142Gly)
c.470T>G (p.Val157Gly)
Xg.70853134A>GCA413607958TEX11c.425T>C (p.Val142Ala)
c.470T>C (p.Val157Ala)
Xg.70853134A>TCA413607959TEX11c.425T>A (p.Val142Asp)
c.470T>A (p.Val157Asp)
Xg.70853135C>ACA413607960TEX11c.424G>T (p.Val142Phe)
c.469G>T (p.Val157Phe)
Xg.70853135C=CA2436261233TEX11c.424G= (p.Val142=)
c.469G= (p.Val157=)
Xg.70853135C>GCA413607961TEX11c.424G>C (p.Val142Leu)
c.469G>C (p.Val157Leu)
Xg.70853135C>TCA10442901TEX11c.424G>A (p.Val142Ile)
c.469G>A (p.Val157Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.70853136G>ACA516759668TEX11c.423C>T (p.Tyr141=)
c.468C>T (p.Tyr156=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.70853136G>CCA413607962TEX11c.423C>G (p.Tyr141Ter)
c.468C>G (p.Tyr156Ter)
Xg.70853136G=CA2436261234TEX11c.423C= (p.Tyr141=)
c.468C= (p.Tyr156=)
Xg.70853136G>TCA413607963TEX11c.423C>A (p.Tyr141Ter)
c.468C>A (p.Tyr156Ter)
Xg.70853137T>ACA413607964TEX11c.422A>T (p.Tyr141Phe)
c.467A>T (p.Tyr156Phe)
Xg.70853137T>CCA413607965TEX11c.422A>G (p.Tyr141Cys)
c.467A>G (p.Tyr156Cys)
Xg.70853137T>GCA413607966TEX11c.422A>C (p.Tyr141Ser)
c.467A>C (p.Tyr156Ser)
Xg.70853137dupCA2821714870TEX11c.422dup (p.Tyr141Ter)
c.467dup (p.Tyr156Ter)
Xg.70853138A=CA2436261235TEX11c.421T= (p.Tyr141=)
c.466T= (p.Tyr156=)
Xg.70853138A>CCA413607967TEX11c.421T>G (p.Tyr141Asp)
c.466T>G (p.Tyr156Asp)
 gnomAD v4
Xg.70853138A>GCA10442902TEX11c.421T>C (p.Tyr141His)
c.466T>C (p.Tyr156His)
 dbSNP ExAC gnomAD v2
Xg.70853138A>TCA413607968TEX11c.421T>A (p.Tyr141Asn)
c.466T>A (p.Tyr156Asn)
Xg.70853139T>ACA413607970TEX11c.420A>T (p.Leu140Phe)
c.465A>T (p.Leu155Phe)
Xg.70853139T>CCA516759699TEX11c.420A>G (p.Leu140=)
c.465A>G (p.Leu155=)
 dbSNP
Xg.70853139T>GCA413607969TEX11c.420A>C (p.Leu140Phe)
c.465A>C (p.Leu155Phe)
Xg.70853139T=CA2436261236TEX11c.420A= (p.Leu140=)
c.465A= (p.Leu155=)
Xg.70853140_70853141insTCTGAAGGTGATGTTACTACA2821714872TEX11c.420_421insGTAACATCACCTTCAGATA (p.Tyr141ValfsTer17)
c.465_466insGTAACATCACCTTCAGATA (p.Tyr156ValfsTer17)
Xg.70853140A>CCA413607971TEX11c.419T>G (p.Leu140Ter)
c.464T>G (p.Leu155Ter)
Xg.70853140A>GCA413607972TEX11c.419T>C (p.Leu140Ser)
c.464T>C (p.Leu155Ser)
Xg.70853140A>TCA413607973TEX11c.419T>A (p.Leu140Ter)
c.464T>A (p.Leu155Ter)
Xg.70853141A>CCA413607974TEX11c.418T>G (p.Leu140Val)
c.463T>G (p.Leu155Val)
Xg.70853141A>GCA516759711TEX11c.418T>C (p.Leu140=)
c.463T>C (p.Leu155=)
 gnomAD v4
Xg.70853141A>TCA413607975TEX11c.418T>A (p.Leu140Ile)
c.463T>A (p.Leu155Ile)
Xg.70853142T>ACA413607976TEX11c.417A>T (p.Gln139His)
c.462A>T (p.Gln154His)
Xg.70853142T>CCA516759725TEX11c.417A>G (p.Gln139=)
c.462A>G (p.Gln154=)
 dbSNP gnomAD v3 gnomAD v4
Xg.70853142T>GCA413607977TEX11c.417A>C (p.Gln139His)
c.462A>C (p.Gln154His)
Xg.70853142T=CA2436261237TEX11c.417A= (p.Gln139=)
c.462A= (p.Gln154=)
Xg.70853143T>ACA413607978TEX11c.416A>T (p.Gln139Leu)
c.461A>T (p.Gln154Leu)
Xg.70853143T>CCA413607979TEX11c.416A>G (p.Gln139Arg)
c.461A>G (p.Gln154Arg)
Xg.70853143T>GCA413607980TEX11c.416A>C (p.Gln139Pro)
c.461A>C (p.Gln154Pro)
Xg.70853144G>ACA413607981TEX11c.415C>T (p.Gln139Ter)
c.460C>T (p.Gln154Ter)
Xg.70853144G>CCA413607982TEX11c.415C>G (p.Gln139Glu)
c.460C>G (p.Gln154Glu)
Xg.70853144G>TCA413607983TEX11c.415C>A (p.Gln139Lys)
c.460C>A (p.Gln154Lys)
Xg.70853145C>ACA413607985TEX11c.414G>T (p.Glu138Asp)
c.459G>T (p.Glu153Asp)
Xg.70853145C=CA2436261238TEX11c.414G= (p.Glu138=)
c.459G= (p.Glu153=)
Xg.70853145C>GCA413607984TEX11c.414G>C (p.Glu138Asp)
c.459G>C (p.Glu153Asp)
Xg.70853145C>TCA10442903TEX11c.414G>A (p.Glu138=)
c.459G>A (p.Glu153=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.70853146T>ACA413607986TEX11c.413A>T (p.Glu138Val)
c.458A>T (p.Glu153Val)
Xg.70853146T>CCA413607987TEX11c.413A>G (p.Glu138Gly)
c.458A>G (p.Glu153Gly)
Xg.70853146T>GCA413607988TEX11c.413A>C (p.Glu138Ala)
c.458A>C (p.Glu153Ala)
Xg.70853147C>ACA413607989TEX11c.412G>T (p.Glu138Ter)
c.457G>T (p.Glu153Ter)
Xg.70853147C>GCA413607990TEX11c.412G>C (p.Glu138Gln)
c.457G>C (p.Glu153Gln)
Xg.70853147C>TCA413607991TEX11c.412G>A (p.Glu138Lys)
c.457G>A (p.Glu153Lys)
Xg.70853148C>ACA516759766TEX11c.411G>T (p.Leu137=)
c.456G>T (p.Leu152=)
Xg.70853148C>GCA516759767TEX11c.411G>C (p.Leu137=)
c.456G>C (p.Leu152=)
Xg.70853148C>TCA516759768TEX11c.411G>A (p.Leu137=)
c.456G>A (p.Leu152=)
Xg.70853149A>CCA413607992TEX11c.410T>G (p.Leu137Arg)
c.455T>G (p.Leu152Arg)
Xg.70853149A>GCA413607993TEX11c.410T>C (p.Leu137Pro)
c.455T>C (p.Leu152Pro)
Xg.70853149A>TCA413607994TEX11c.410T>A (p.Leu137Gln)
c.455T>A (p.Leu152Gln)
Xg.70853150G>ACA10442904TEX11c.409C>T (p.Leu137=)
c.454C>T (p.Leu152=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.70853150G>CCA413607995TEX11c.409C>G (p.Leu137Val)
c.454C>G (p.Leu152Val)
 gnomAD v4
Xg.70853150G=CA2436261239TEX11c.409C= (p.Leu137=)
c.454C= (p.Leu152=)
Xg.70853150G>TCA413607996TEX11c.409C>A (p.Leu137Met)
c.454C>A (p.Leu152Met)
Xg.70853151A>CCA413607997TEX11c.408T>G (p.Ser136Arg)
c.453T>G (p.Ser151Arg)
Xg.70853151A>GCA516759793TEX11c.408T>C (p.Ser136=)
c.453T>C (p.Ser151=)
Xg.70853151A>TCA413607998TEX11c.408T>A (p.Ser136Arg)
c.453T>A (p.Ser151Arg)
Xg.70853152C>ACA413608001TEX11c.407G>T (p.Ser136Ile)
c.452G>T (p.Ser151Ile)
Xg.70853152C>GCA413608000TEX11c.407G>C (p.Ser136Thr)
c.452G>C (p.Ser151Thr)
Xg.70853152C>TCA413607999TEX11c.407G>A (p.Ser136Asn)
c.452G>A (p.Ser151Asn)
Xg.70853153T>ACA413608002TEX11c.406A>T (p.Ser136Cys)
c.451A>T (p.Ser151Cys)
Xg.70853153T>CCA413608003TEX11c.406A>G (p.Ser136Gly)
c.451A>G (p.Ser151Gly)
Xg.70853153T>GCA413608004TEX11c.406A>C (p.Ser136Arg)
c.451A>C (p.Ser151Arg)
Xg.70853154C>ACA413608005TEX11c.406-1G>T (n.406-1G>T)
c.451-1G>T (n.451-1G>T)
Xg.70853154C>GCA413608006TEX11c.406-1G>C (n.406-1G>C)
c.451-1G>C (n.451-1G>C)
Xg.70853154C>TCA413608007TEX11c.406-1G>A (n.406-1G>A)
c.451-1G>A (n.451-1G>A)
Xg.70853155T>ACA413608008TEX11c.406-2A>T (n.406-2A>T)
c.451-2A>T (n.451-2A>T)
Xg.70853155T>CCA413608009TEX11c.406-2A>G (n.406-2A>G)
c.451-2A>G (n.451-2A>G)
Xg.70853155T>GCA413608010TEX11c.406-2A>C (n.406-2A>C)
c.451-2A>C (n.451-2A>C)
Xg.70853156G>TCA2821714875TEX11c.406-3C>A (n.406-3C>A)
c.451-3C>A (n.451-3C>A)
Xg.70853160A=CA2436261240TEX11c.406-7T= (n.406-7T=)
c.451-7T= (n.451-7T=)
Xg.70853160A>GCA877775999TEX11c.406-7T>C (n.406-7T>C)
c.451-7T>C (n.451-7T>C)
 dbSNP gnomAD v4
Xg.70853161A=CA2436261241TEX11c.406-8T= (n.406-8T=)
c.451-8T= (n.451-8T=)
Xg.70853161A>TCA2436261242TEX11c.406-8T>A (n.406-8T>A)
c.451-8T>A (n.451-8T>A)
 dbSNP
Xg.70853162T>CCA10442905TEX11c.406-9A>G (n.406-9A>G)
c.451-9A>G (n.451-9A>G)
 dbSNP ExAC
Xg.70853162T=CA2436261243TEX11c.406-9A= (n.406-9A=)
c.451-9A= (n.451-9A=)
Xg.70853165A=CA2436261244TEX11c.406-12T= (n.406-12T=)
c.451-12T= (n.451-12T=)
Xg.70853165A>GCA642470359TEX11c.406-12T>C (n.406-12T>C)
c.451-12T>C (n.451-12T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.70853168dupCA2694012961TEX11c.406-13dup (n.406-13dup)
c.451-13dup (n.451-13dup)
 gnomAD v4
Xg.70853169A=CA2436261245TEX11c.406-16T= (n.406-16T=)
c.451-16T= (n.451-16T=)
Xg.70853169A>CCA2436261246TEX11c.406-16T>G (n.406-16T>G)
c.451-16T>G (n.451-16T>G)
 dbSNP gnomAD v4
Xg.70853172G>ACA2579637143TEX11c.406-19C>T (n.406-19C>T)
c.451-19C>T (n.451-19C>T)
 gnomAD v4
Xg.70853174A>GCA2694012962TEX11c.406-21T>C (n.406-21T>C)
c.451-21T>C (n.451-21T>C)
 gnomAD v4
Xg.70853177A>GCA2830756784TEX11c.406-24T>C (n.406-24T>C)
c.451-24T>C (n.451-24T>C)
Xg.70853177_70853178delinsATCA2436261247TEX11c.406-25_406-24delinsAT (n.406-25_406-24delinsAT)
c.451-25_451-24delinsAT (n.451-25_451-24delinsAT)
Xg.70853178delCA642470360TEX11c.406-25del (n.406-25del)
c.451-25del (n.451-25del)
 dbSNP gnomAD v2 gnomAD v4
Xg.70853178T>GCA2821714878TEX11c.406-25A>C (n.406-25A>C)
c.451-25A>C (n.451-25A>C)
Xg.70853183C>ACA642470361TEX11c.406-30G>T (n.406-30G>T)
c.451-30G>T (n.451-30G>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.70853183C=CA2436261248TEX11c.406-30G= (n.406-30G=)
c.451-30G= (n.451-30G=)
Xg.70853184A=CA2436261249TEX11c.406-31T= (n.406-31T=)
c.451-31T= (n.451-31T=)
Xg.70853184A>CCA331002040TEX11c.406-31T>G (n.406-31T>G)
c.451-31T>G (n.451-31T>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.70853184A>TCA2436261250TEX11c.406-31T>A (n.406-31T>A)
c.451-31T>A (n.451-31T>A)
 dbSNP
Xg.70853185A>GCA2694012963TEX11c.406-32T>C (n.406-32T>C)
c.451-32T>C (n.451-32T>C)
 gnomAD v4
Xg.70853186T>CCA2579637144TEX11c.406-33A>G (n.406-33A>G)
c.451-33A>G (n.451-33A>G)
Xg.70853189G>ACA642470362TEX11c.406-36C>T (n.406-36C>T)
c.451-36C>T (n.451-36C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.70853189G=CA2436261251TEX11c.406-36C= (n.406-36C=)
c.451-36C= (n.451-36C=)
Xg.70853189_70853192delinsGAATCA2436261252TEX11c.406-39_406-36delinsATTC (n.406-39_406-36delinsATTC)
c.451-39_451-36delinsATTC (n.451-39_451-36delinsATTC)
Xg.70853192_70853194delCA877776028TEX11c.406-39_406-37del (n.406-39_406-37del)
c.451-39_451-37del (n.451-39_451-37del)
 dbSNP
Xg.70853192T>CCA10442906TEX11c.406-39A>G (n.406-39A>G)
c.451-39A>G (n.451-39A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.70853192T=CA2436261253TEX11c.406-39A= (n.406-39A=)
c.451-39A= (n.451-39A=)
Xg.70853194A>TCA2694012964TEX11c.406-41T>A (n.406-41T>A)
c.451-41T>A (n.451-41T>A)
 gnomAD v4
Xg.70853197A>CCA2694012965TEX11c.406-44T>G (n.406-44T>G)
c.451-44T>G (n.451-44T>G)
 gnomAD v4
Xg.70853199A>GCA2694012966TEX11c.406-46T>C (n.406-46T>C)
c.451-46T>C (n.451-46T>C)
 gnomAD v4
Xg.70853200G>CCA10442907TEX11c.406-47C>G (n.406-47C>G)
c.451-47C>G (n.451-47C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.70853200G=CA2436261254TEX11c.406-47C= (n.406-47C=)
c.451-47C= (n.451-47C=)
Xg.70853200G>TCA2694012967TEX11c.406-47C>A (n.406-47C>A)
c.451-47C>A (n.451-47C>A)
 gnomAD v4
Xg.70853202T>CCA10442908TEX11c.405+46A>G (n.405+46A>G)
c.450+46A>G (n.450+46A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.70853202T=CA2436261255TEX11c.405+46A= (n.405+46A=)
c.450+46A= (n.450+46A=)
Xg.70853203G>ACA10442909TEX11c.405+45C>T (n.405+45C>T)
c.450+45C>T (n.450+45C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.70853203G=CA2436261256TEX11c.405+45C= (n.405+45C=)
c.450+45C= (n.450+45C=)
Xg.70853204T>CCA2694012968TEX11c.405+44A>G (n.405+44A>G)
c.450+44A>G (n.450+44A>G)
 gnomAD v4
Xg.70853205T>GCA657714636TEX11c.405+43A>C (n.405+43A>C)
c.450+43A>C (n.450+43A>C)
 COSMIC COSMIC
Xg.70853206A=CA2436261257TEX11c.405+42T= (n.405+42T=)
c.450+42T= (n.450+42T=)
Xg.70853206A>TCA10442910TEX11c.405+42T>A (n.405+42T>A)
c.450+42T>A (n.450+42T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.70853213A=CA2436261258TEX11c.405+35T= (n.405+35T=)
c.450+35T= (n.450+35T=)
Xg.70853213A>CCA2436261259TEX11c.405+35T>G (n.405+35T>G)
c.450+35T>G (n.450+35T>G)
 dbSNP gnomAD v4
Xg.70853214T>ACA1134089768TEX11c.405+34A>T (n.405+34A>T)
c.450+34A>T (n.450+34A>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.70853214T>CCA10442911TEX11c.405+34A>G (n.405+34A>G)
c.450+34A>G (n.450+34A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.70853214T=CA2436261260TEX11c.405+34A= (n.405+34A=)
c.450+34A= (n.450+34A=)
Xg.70853215A>GCA2694012969TEX11c.405+33T>C (n.405+33T>C)
c.450+33T>C (n.450+33T>C)
 gnomAD v4
Xg.70853216A>GCA2694012970TEX11c.405+32T>C (n.405+32T>C)
c.450+32T>C (n.450+32T>C)
 gnomAD v4
Xg.70853218T>CCA2579637145TEX11c.405+30A>G (n.405+30A>G)
c.450+30A>G (n.450+30A>G)
Xg.70853219G=CA2436261262TEX11c.405+29C= (n.405+29C=)
c.450+29C= (n.450+29C=)
Xg.70853219G>TCA2436261261TEX11c.405+29C>A (n.405+29C>A)
c.450+29C>A (n.450+29C>A)
 dbSNP
Xg.70853220C>TCA2694012971TEX11c.405+28G>A (n.405+28G>A)
c.450+28G>A (n.450+28G>A)
 gnomAD v4
Xg.70853221C>TCA2694012972TEX11c.405+27G>A (n.405+27G>A)
c.450+27G>A (n.450+27G>A)
 gnomAD v4
Xg.70853223C=CA2436261263TEX11c.405+25G= (n.405+25G=)
c.450+25G= (n.450+25G=)
Xg.70853223C>TCA10442912TEX11c.405+25G>A (n.405+25G>A)
c.450+25G>A (n.450+25G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.70853224A=CA2436261264TEX11c.405+24T= (n.405+24T=)
c.450+24T= (n.450+24T=)
Xg.70853224A>GCA642470363TEX11c.405+24T>C (n.405+24T>C)
c.450+24T>C (n.450+24T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.70853225G>ACA10442913TEX11c.405+23C>T (n.405+23C>T)
c.450+23C>T (n.450+23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.70853225G=CA2436261265TEX11c.405+23C= (n.405+23C=)
c.450+23C= (n.450+23C=)
Xg.70853225G>TCA2579637146TEX11c.405+23C>A (n.405+23C>A)
c.450+23C>A (n.450+23C>A)
Xg.70853228A>GCA2694012973TEX11c.405+20T>C (n.405+20T>C)
c.450+20T>C (n.450+20T>C)
 gnomAD v4
Xg.70853232G>CCA2694012975TEX11c.405+16C>G (n.405+16C>G)
c.450+16C>G (n.450+16C>G)
 gnomAD v4
Xg.70853232G>TCA2694012974TEX11c.405+16C>A (n.405+16C>A)
c.450+16C>A (n.450+16C>A)
 gnomAD v4

Number of alleles fetched