Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.70853054G>ACA413607773TEX11c.505C>T (p.Leu169Phe)
c.550C>T (p.Leu184Phe)
Xg.70853054G>CCA413607774TEX11c.505C>G (p.Leu169Val)
c.550C>G (p.Leu184Val)
Xg.70853054G>TCA413607772TEX11c.505C>A (p.Leu169Ile)
c.550C>A (p.Leu184Ile)
Xg.70853055C>ACA516759253TEX11c.504G>T (p.Val168=)
c.549G>T (p.Val183=)
Xg.70853055C>GCA516759252TEX11c.504G>C (p.Val168=)
c.549G>C (p.Val183=)
Xg.70853055C>TCA516759254TEX11c.504G>A (p.Val168=)
c.549G>A (p.Val183=)
Xg.70853056A>CCA413607775TEX11c.503T>G (p.Val168Gly)
c.548T>G (p.Val183Gly)
Xg.70853056A>GCA413607776TEX11c.503T>C (p.Val168Ala)
c.548T>C (p.Val183Ala)
Xg.70853056A>TCA413607777TEX11c.503T>A (p.Val168Glu)
c.548T>A (p.Val183Glu)
Xg.70853057C>ACA413607778TEX11c.502G>T (p.Val168Leu)
c.547G>T (p.Val183Leu)
Xg.70853057C=CA2436261211TEX11c.502G= (p.Val168=)
c.547G= (p.Val183=)
Xg.70853057C>GCA413607779TEX11c.502G>C (p.Val168Leu)
c.547G>C (p.Val183Leu)
Xg.70853057C>TCA10442894TEX11c.502G>A (p.Val168Met)
c.547G>A (p.Val183Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.70853058T>ACA413607780TEX11c.501A>T (p.Arg167Ser)
c.546A>T (p.Arg182Ser)
Xg.70853058T>CCA516759255TEX11c.501A>G (p.Arg167=)
c.546A>G (p.Arg182=)
Xg.70853058T>GCA413607781TEX11c.501A>C (p.Arg167Ser)
c.546A>C (p.Arg182Ser)
Xg.70853059delCA2579637142TEX11c.500del (p.Arg167LysfsTer30)
c.545del (p.Arg182LysfsTer30)
Xg.70853059C>ACA413607782TEX11c.500G>T (p.Arg167Ile)
c.545G>T (p.Arg182Ile)
Xg.70853059C>GCA413607783TEX11c.500G>C (p.Arg167Thr)
c.545G>C (p.Arg182Thr)
Xg.70853059C>TCA413607784TEX11c.500G>A (p.Arg167Lys)
c.545G>A (p.Arg182Lys)
Xg.70853060T>ACA413607785TEX11c.499A>T (p.Arg167Ter)
c.544A>T (p.Arg182Ter)
Xg.70853060T>CCA413607786TEX11c.499A>G (p.Arg167Gly)
c.544A>G (p.Arg182Gly)
Xg.70853060T>GCA516759256TEX11c.499A>C (p.Arg167=)
c.544A>C (p.Arg182=)
Xg.70853061G>ACA10442895TEX11c.498C>T (p.Phe166=)
c.543C>T (p.Phe181=)
dbSNP ExAC gnomAD v4
Xg.70853061G>CCA413607788TEX11c.498C>G (p.Phe166Leu)
c.543C>G (p.Phe181Leu)
Xg.70853061G=CA2436261212TEX11c.498C= (p.Phe166=)
c.543C= (p.Phe181=)
Xg.70853061G>TCA413607787TEX11c.498C>A (p.Phe166Leu)
c.543C>A (p.Phe181Leu)
Xg.70853062A>CCA413607789TEX11c.497T>G (p.Phe166Cys)
c.542T>G (p.Phe181Cys)
Xg.70853062A>GCA413607791TEX11c.497T>C (p.Phe166Ser)
c.542T>C (p.Phe181Ser)
Xg.70853062A>TCA413607790TEX11c.497T>A (p.Phe166Tyr)
c.542T>A (p.Phe181Tyr)
gnomAD v4
Xg.70853063A>CCA413607792TEX11c.496T>G (p.Phe166Val)
c.541T>G (p.Phe181Val)
Xg.70853063A>GCA413607794TEX11c.496T>C (p.Phe166Leu)
c.541T>C (p.Phe181Leu)
Xg.70853063A>TCA413607793TEX11c.496T>A (p.Phe166Ile)
c.541T>A (p.Phe181Ile)
Xg.70853064G>ACA516759257TEX11c.495C>T (p.His165=)
c.540C>T (p.His180=)
Xg.70853064G>CCA413607795TEX11c.495C>G (p.His165Gln)
c.540C>G (p.His180Gln)
Xg.70853064G>TCA413607796TEX11c.495C>A (p.His165Gln)
c.540C>A (p.His180Gln)
Xg.70853065T>ACA413607797TEX11c.494A>T (p.His165Leu)
c.539A>T (p.His180Leu)
dbSNP gnomAD v4
Xg.70853065T>CCA413607798TEX11c.494A>G (p.His165Arg)
c.539A>G (p.His180Arg)
Xg.70853065T>GCA413607799TEX11c.494A>C (p.His165Pro)
c.539A>C (p.His180Pro)
Xg.70853065T=CA2436261213TEX11c.494A= (p.His165=)
c.539A= (p.His180=)
Xg.70853066G>ACA413607800TEX11c.493C>T (p.His165Tyr)
c.538C>T (p.His180Tyr)
Xg.70853066G>CCA413607801TEX11c.493C>G (p.His165Asp)
c.538C>G (p.His180Asp)
Xg.70853066G=CA2436261214TEX11c.493C= (p.His165=)
c.538C= (p.His180=)
Xg.70853066G>TCA413607802TEX11c.493C>A (p.His165Asn)
c.538C>A (p.His180Asn)
dbSNP
Xg.70853067G>ACA516759258TEX11c.492C>T (p.Asp164=)
c.537C>T (p.Asp179=)
Xg.70853067G>CCA413607803TEX11c.492C>G (p.Asp164Glu)
c.537C>G (p.Asp179Glu)
gnomAD v4
Xg.70853067G>TCA413607804TEX11c.492C>A (p.Asp164Glu)
c.537C>A (p.Asp179Glu)
Xg.70853068T>ACA413607807TEX11c.491A>T (p.Asp164Val)
c.536A>T (p.Asp179Val)
Xg.70853068T>CCA413607806TEX11c.491A>G (p.Asp164Gly)
c.536A>G (p.Asp179Gly)
Xg.70853068T>GCA413607805TEX11c.491A>C (p.Asp164Ala)
c.536A>C (p.Asp179Ala)
Xg.70853069C>ACA413607808TEX11c.490G>T (p.Asp164Tyr)
c.535G>T (p.Asp179Tyr)
Xg.70853069C=CA2436261215TEX11c.490G= (p.Asp164=)
c.535G= (p.Asp179=)
Xg.70853069C>GCA413607809TEX11c.490G>C (p.Asp164His)
c.535G>C (p.Asp179His)
Xg.70853069C>TCA10442896TEX11c.490G>A (p.Asp164Asn)
c.535G>A (p.Asp179Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.70853070A>CCA413607810TEX11c.489T>G (p.Ser163Arg)
c.534T>G (p.Ser178Arg)
gnomAD v4
Xg.70853070A>GCA516759259TEX11c.489T>C (p.Ser163=)
c.534T>C (p.Ser178=)
Xg.70853070A>TCA413607811TEX11c.489T>A (p.Ser163Arg)
c.534T>A (p.Ser178Arg)
Xg.70853071C>ACA413607812TEX11c.488G>T (p.Ser163Ile)
c.533G>T (p.Ser178Ile)
Xg.70853071C=CA2436261216TEX11c.488G= (p.Ser163=)
c.533G= (p.Ser178=)
Xg.70853071C>GCA413607813TEX11c.488G>C (p.Ser163Thr)
c.533G>C (p.Ser178Thr)
Xg.70853071C>TCA413607814TEX11c.488G>A (p.Ser163Asn)
c.533G>A (p.Ser178Asn)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.70853072T>ACA413607815TEX11c.487A>T (p.Ser163Cys)
c.532A>T (p.Ser178Cys)
Xg.70853072T>CCA413607816TEX11c.487A>G (p.Ser163Gly)
c.532A>G (p.Ser178Gly)
dbSNP
Xg.70853072T>GCA413607817TEX11c.487A>C (p.Ser163Arg)
c.532A>C (p.Ser178Arg)
Xg.70853072T=CA2436261217TEX11c.487A= (p.Ser163=)
c.532A= (p.Ser178=)
Xg.70853073C>ACA413607819TEX11c.486G>T (p.Glu162Asp)
c.531G>T (p.Glu177Asp)
gnomAD v4
Xg.70853073C>GCA413607818TEX11c.486G>C (p.Glu162Asp)
c.531G>C (p.Glu177Asp)
Xg.70853073C>TCA516759298TEX11c.486G>A (p.Glu162=)
c.531G>A (p.Glu177=)
Xg.70853074T>ACA413607820TEX11c.485A>T (p.Glu162Val)
c.530A>T (p.Glu177Val)
Xg.70853074T>CCA413607821TEX11c.485A>G (p.Glu162Gly)
c.530A>G (p.Glu177Gly)
Xg.70853074T>GCA413607822TEX11c.485A>C (p.Glu162Ala)
c.530A>C (p.Glu177Ala)
Xg.70853075C>ACA413607823TEX11c.484G>T (p.Glu162Ter)
c.529G>T (p.Glu177Ter)
Xg.70853075C=CA2436261218TEX11c.484G= (p.Glu162=)
c.529G= (p.Glu177=)
Xg.70853075C>GCA413607824TEX11c.484G>C (p.Glu162Gln)
c.529G>C (p.Glu177Gln)
Xg.70853075C>TCA413607825TEX11c.484G>A (p.Glu162Lys)
c.529G>A (p.Glu177Lys)
dbSNP gnomAD v2 gnomAD v4
Xg.70853076A>CCA516759316TEX11c.483T>G (p.Val161=)
c.528T>G (p.Val176=)
Xg.70853076A>GCA516759318TEX11c.483T>C (p.Val161=)
c.528T>C (p.Val176=)
Xg.70853076A>TCA516759314TEX11c.483T>A (p.Val161=)
c.528T>A (p.Val176=)
Xg.70853077A>CCA413607826TEX11c.482T>G (p.Val161Gly)
c.527T>G (p.Val176Gly)
Xg.70853077A>GCA413607827TEX11c.482T>C (p.Val161Ala)
c.527T>C (p.Val176Ala)
Xg.70853077A>TCA413607828TEX11c.482T>A (p.Val161Asp)
c.527T>A (p.Val176Asp)
Xg.70853078C>ACA413607829TEX11c.481G>T (p.Val161Phe)
c.526G>T (p.Val176Phe)
Xg.70853078C>GCA413607830TEX11c.481G>C (p.Val161Leu)
c.526G>C (p.Val176Leu)
Xg.70853078C>TCA413607831TEX11c.481G>A (p.Val161Ile)
c.526G>A (p.Val176Ile)
Xg.70853079A=CA2436261219TEX11c.480T= (p.Thr160=)
c.525T= (p.Thr175=)
Xg.70853079A>CCA516759332TEX11c.480T>G (p.Thr160=)
c.525T>G (p.Thr175=)
Xg.70853079A>GCA10442897TEX11c.480T>C (p.Thr160=)
c.525T>C (p.Thr175=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.70853079A>TCA516759330TEX11c.480T>A (p.Thr160=)
c.525T>A (p.Thr175=)
Xg.70853080G>ACA413607834TEX11c.479C>T (p.Thr160Ile)
c.524C>T (p.Thr175Ile)
Xg.70853080G>CCA413607832TEX11c.479C>G (p.Thr160Ser)
c.524C>G (p.Thr175Ser)
Xg.70853080G>TCA413607833TEX11c.479C>A (p.Thr160Asn)
c.524C>A (p.Thr175Asn)
Xg.70853081T>ACA413607835TEX11c.478A>T (p.Thr160Ser)
c.523A>T (p.Thr175Ser)
Xg.70853081T>CCA413607836TEX11c.478A>G (p.Thr160Ala)
c.523A>G (p.Thr175Ala)
dbSNP gnomAD v4
Xg.70853081T>GCA413607837TEX11c.478A>C (p.Thr160Pro)
c.523A>C (p.Thr175Pro)
Xg.70853081T=CA2436261220TEX11c.478A= (p.Thr160=)
c.523A= (p.Thr175=)
Xg.70853082A>CCA413607838TEX11c.477T>G (p.Ile159Met)
c.522T>G (p.Ile174Met)
Xg.70853082A>GCA516759350TEX11c.477T>C (p.Ile159=)
c.522T>C (p.Ile174=)
Xg.70853082A>TCA516759348TEX11c.477T>A (p.Ile159=)
c.522T>A (p.Ile174=)
Xg.70853083A>CCA413607839TEX11c.476T>G (p.Ile159Ser)
c.521T>G (p.Ile174Ser)
Xg.70853083A>GCA413607840TEX11c.476T>C (p.Ile159Thr)
c.521T>C (p.Ile174Thr)
Xg.70853083A>TCA413607841TEX11c.476T>A (p.Ile159Asn)
c.521T>A (p.Ile174Asn)
Xg.70853084T>ACA413607842TEX11c.475A>T (p.Ile159Phe)
c.520A>T (p.Ile174Phe)
Xg.70853084T>CCA413607843TEX11c.475A>G (p.Ile159Val)
c.520A>G (p.Ile174Val)
Xg.70853084T>GCA413607844TEX11c.475A>C (p.Ile159Leu)
c.520A>C (p.Ile174Leu)
Xg.70853085C>ACA413607845TEX11c.474G>T (p.Lys158Asn)
c.519G>T (p.Lys173Asn)
COSMIC COSMIC
Xg.70853085C>GCA413607846TEX11c.474G>C (p.Lys158Asn)
c.519G>C (p.Lys173Asn)
Xg.70853085C>TCA516759366TEX11c.474G>A (p.Lys158=)
c.519G>A (p.Lys173=)
Xg.70853086T>ACA413607848TEX11c.473A>T (p.Lys158Met)
c.518A>T (p.Lys173Met)
Xg.70853086T>CCA413607849TEX11c.473A>G (p.Lys158Arg)
c.518A>G (p.Lys173Arg)
Xg.70853086T>GCA413607847TEX11c.473A>C (p.Lys158Thr)
c.518A>C (p.Lys173Thr)
Xg.70853087T>ACA413607850TEX11c.472A>T (p.Lys158Ter)
c.517A>T (p.Lys173Ter)
Xg.70853087T>CCA413607851TEX11c.472A>G (p.Lys158Glu)
c.517A>G (p.Lys173Glu)
Xg.70853087T>GCA413607852TEX11c.472A>C (p.Lys158Gln)
c.517A>C (p.Lys173Gln)
Xg.70853088C>ACA413607853TEX11c.471G>T (p.Glu157Asp)
c.516G>T (p.Glu172Asp)
dbSNP gnomAD v2 gnomAD v4
Xg.70853088C=CA2436261221TEX11c.471G= (p.Glu157=)
c.516G= (p.Glu172=)
Xg.70853088C>GCA413607854TEX11c.471G>C (p.Glu157Asp)
c.516G>C (p.Glu172Asp)
Xg.70853088C>TCA516759384TEX11c.471G>A (p.Glu157=)
c.516G>A (p.Glu172=)
gnomAD v4
Xg.70853089T>ACA413607857TEX11c.470A>T (p.Glu157Val)
c.515A>T (p.Glu172Val)
Xg.70853089T>CCA413607856TEX11c.470A>G (p.Glu157Gly)
c.515A>G (p.Glu172Gly)
Xg.70853089T>GCA413607855TEX11c.470A>C (p.Glu157Ala)
c.515A>C (p.Glu172Ala)
Xg.70853090C>ACA413607858TEX11c.469G>T (p.Glu157Ter)
c.514G>T (p.Glu172Ter)
Xg.70853090C>GCA413607859TEX11c.469G>C (p.Glu157Gln)
c.514G>C (p.Glu172Gln)
Xg.70853090C>TCA413607860TEX11c.469G>A (p.Glu157Lys)
c.514G>A (p.Glu172Lys)
Xg.70853091C>ACA413607861TEX11c.468G>T (p.Met156Ile)
c.513G>T (p.Met171Ile)
Xg.70853091C>GCA413607862TEX11c.468G>C (p.Met156Ile)
c.513G>C (p.Met171Ile)
Xg.70853091C>TCA413607863TEX11c.468G>A (p.Met156Ile)
c.513G>A (p.Met171Ile)
gnomAD v4
Xg.70853092A>CCA413607866TEX11c.467T>G (p.Met156Arg)
c.512T>G (p.Met171Arg)
Xg.70853092A>GCA413607864TEX11c.467T>C (p.Met156Thr)
c.512T>C (p.Met171Thr)
Xg.70853092A>TCA413607865TEX11c.467T>A (p.Met156Lys)
c.512T>A (p.Met171Lys)
Xg.70853093T>ACA413607867TEX11c.466A>T (p.Met156Leu)
c.511A>T (p.Met171Leu)
Xg.70853093T>CCA200229TEX11c.466A>G (p.Met156Val)
c.511A>G (p.Met171Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.70853093T>GCA413607868TEX11c.466A>C (p.Met156Leu)
c.511A>C (p.Met171Leu)
Xg.70853093T=CA2436261222TEX11c.466A= (p.Met156=)
c.511A= (p.Met171=)
Xg.70853094G>ACA10442898TEX11c.465C>T (p.Thr155=)
c.510C>T (p.Thr170=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.70853094G>CCA516759414TEX11c.465C>G (p.Thr155=)
c.510C>G (p.Thr170=)
Xg.70853094G=CA2436261223TEX11c.465C= (p.Thr155=)
c.510C= (p.Thr170=)
Xg.70853094G>TCA516759416TEX11c.465C>A (p.Thr155=)
c.510C>A (p.Thr170=)
Xg.70853095G>ACA413607869TEX11c.464C>T (p.Thr155Ile)
c.509C>T (p.Thr170Ile)
gnomAD v4
Xg.70853095G>CCA413607870TEX11c.464C>G (p.Thr155Ser)
c.509C>G (p.Thr170Ser)
Xg.70853095G>TCA413607871TEX11c.464C>A (p.Thr155Asn)
c.509C>A (p.Thr170Asn)
gnomAD v4
Xg.70853096T>ACA413607872TEX11c.463A>T (p.Thr155Ser)
c.508A>T (p.Thr170Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.70853096T>CCA413607873TEX11c.463A>G (p.Thr155Ala)
c.508A>G (p.Thr170Ala)
gnomAD v4
Xg.70853096T>GCA413607874TEX11c.463A>C (p.Thr155Pro)
c.508A>C (p.Thr170Pro)
Xg.70853096T=CA2436261224TEX11c.463A= (p.Thr155=)
c.508A= (p.Thr170=)
Xg.70853097C>ACA413607875TEX11c.462G>T (p.Leu154Phe)
c.507G>T (p.Leu169Phe)
gnomAD v4
Xg.70853097C=CA2436261225TEX11c.462G= (p.Leu154=)
c.507G= (p.Leu169=)
Xg.70853097C>GCA331002037TEX11c.462G>C (p.Leu154Phe)
c.507G>C (p.Leu169Phe)
dbSNP gnomAD v3 gnomAD v4
Xg.70853097C>TCA10442899TEX11c.462G>A (p.Leu154=)
c.507G>A (p.Leu169=)
dbSNP ExAC gnomAD v4
Xg.70853098A>CCA413607876TEX11c.461T>G (p.Leu154Trp)
c.506T>G (p.Leu169Trp)
gnomAD v4
Xg.70853098A>GCA413607878TEX11c.461T>C (p.Leu154Ser)
c.506T>C (p.Leu169Ser)
Xg.70853098A>TCA413607877TEX11c.461T>A (p.Leu154Ter)
c.506T>A (p.Leu169Ter)
Xg.70853099A>CCA413607879TEX11c.460T>G (p.Leu154Val)
c.505T>G (p.Leu169Val)
Xg.70853099A>GCA516759445TEX11c.460T>C (p.Leu154=)
c.505T>C (p.Leu169=)
Xg.70853099A>TCA413607880TEX11c.460T>A (p.Leu154Met)
c.505T>A (p.Leu169Met)
Xg.70853100G>ACA516759449TEX11c.459C>T (p.Asp153=)
c.504C>T (p.Asp168=)
Xg.70853100G>CCA413607881TEX11c.459C>G (p.Asp153Glu)
c.504C>G (p.Asp168Glu)
Xg.70853100G>TCA413607882TEX11c.459C>A (p.Asp153Glu)
c.504C>A (p.Asp168Glu)
Xg.70853101T>ACA413607883TEX11c.458A>T (p.Asp153Val)
c.503A>T (p.Asp168Val)
Xg.70853101T>CCA413607884TEX11c.458A>G (p.Asp153Gly)
c.503A>G (p.Asp168Gly)
dbSNP
Xg.70853101T>GCA413607885TEX11c.458A>C (p.Asp153Ala)
c.503A>C (p.Asp168Ala)
Xg.70853101T=CA2436261226TEX11c.458A= (p.Asp153=)
c.503A= (p.Asp168=)
Xg.70853102C>ACA413607886TEX11c.457G>T (p.Asp153Tyr)
c.502G>T (p.Asp168Tyr)
Xg.70853102C>GCA413607887TEX11c.457G>C (p.Asp153His)
c.502G>C (p.Asp168His)
Xg.70853102C>TCA413607888TEX11c.457G>A (p.Asp153Asn)
c.502G>A (p.Asp168Asn)
Xg.70853103A>CCA516759455TEX11c.456T>G (p.Ala152=)
c.501T>G (p.Ala167=)
Xg.70853103A>GCA516759456TEX11c.456T>C (p.Ala152=)
c.501T>C (p.Ala167=)
Xg.70853103A>TCA516759457TEX11c.456T>A (p.Ala152=)
c.501T>A (p.Ala167=)
Xg.70853104G>ACA413607889TEX11c.455C>T (p.Ala152Val)
c.500C>T (p.Ala167Val)
Xg.70853104G>CCA413607890TEX11c.455C>G (p.Ala152Gly)
c.500C>G (p.Ala167Gly)
Xg.70853104G>TCA413607891TEX11c.455C>A (p.Ala152Asp)
c.500C>A (p.Ala167Asp)
Xg.70853105C>ACA413607894TEX11c.454G>T (p.Ala152Ser)
c.499G>T (p.Ala167Ser)
Xg.70853105C>GCA413607892TEX11c.454G>C (p.Ala152Pro)
c.499G>C (p.Ala167Pro)
Xg.70853105C>TCA413607893TEX11c.454G>A (p.Ala152Thr)
c.499G>A (p.Ala167Thr)
Xg.70853106C>ACA413607895TEX11c.453G>T (p.Glu151Asp)
c.498G>T (p.Glu166Asp)
Xg.70853106C>GCA413607896TEX11c.453G>C (p.Glu151Asp)
c.498G>C (p.Glu166Asp)
Xg.70853106C>TCA516759466TEX11c.453G>A (p.Glu151=)
c.498G>A (p.Glu166=)
Xg.70853107T>ACA413607897TEX11c.452A>T (p.Glu151Val)
c.497A>T (p.Glu166Val)
Xg.70853107T>CCA413607898TEX11c.452A>G (p.Glu151Gly)
c.497A>G (p.Glu166Gly)
Xg.70853107T>GCA413607899TEX11c.452A>C (p.Glu151Ala)
c.497A>C (p.Glu166Ala)
Xg.70853108C>ACA413607900TEX11c.451G>T (p.Glu151Ter)
c.496G>T (p.Glu166Ter)
Xg.70853108C>GCA413607901TEX11c.451G>C (p.Glu151Gln)
c.496G>C (p.Glu166Gln)
Xg.70853108C>TCA413607902TEX11c.451G>A (p.Glu151Lys)
c.496G>A (p.Glu166Lys)
Xg.70853109A>CCA516759478TEX11c.450T>G (p.Pro150=)
c.495T>G (p.Pro165=)
Xg.70853109A>GCA516759480TEX11c.450T>C (p.Pro150=)
c.495T>C (p.Pro165=)
gnomAD v4
Xg.70853109A>TCA516759482TEX11c.450T>A (p.Pro150=)
c.495T>A (p.Pro165=)
Xg.70853110G>ACA413607903TEX11c.449C>T (p.Pro150Leu)
c.494C>T (p.Pro165Leu)
Xg.70853110G>CCA413607904TEX11c.449C>G (p.Pro150Arg)
c.494C>G (p.Pro165Arg)
gnomAD v4
Xg.70853110G>TCA413607905TEX11c.449C>A (p.Pro150His)
c.494C>A (p.Pro165His)
Xg.70853111G>ACA331002038TEX11c.448C>T (p.Pro150Ser)
c.493C>T (p.Pro165Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.70853111G>CCA413607907TEX11c.448C>G (p.Pro150Ala)
c.493C>G (p.Pro165Ala)
Xg.70853111G=CA2436261227TEX11c.448C= (p.Pro150=)
c.493C= (p.Pro165=)
Xg.70853111G>TCA413607906TEX11c.448C>A (p.Pro150Thr)
c.493C>A (p.Pro165Thr)
dbSNP gnomAD v4
Xg.70853112G>ACA516759500TEX11c.447C>T (p.Ser149=)
c.492C>T (p.Ser164=)
Xg.70853112G>CCA516759503TEX11c.447C>G (p.Ser149=)
c.492C>G (p.Ser164=)
Xg.70853112G>TCA516759506TEX11c.447C>A (p.Ser149=)
c.492C>A (p.Ser164=)
Xg.70853113G>ACA413607908TEX11c.446C>T (p.Ser149Phe)
c.491C>T (p.Ser164Phe)
Xg.70853113G>CCA413607910TEX11c.446C>G (p.Ser149Cys)
c.491C>G (p.Ser164Cys)
Xg.70853113G>TCA413607909TEX11c.446C>A (p.Ser149Tyr)
c.491C>A (p.Ser164Tyr)
Xg.70853114A>CCA413607911TEX11c.445T>G (p.Ser149Ala)
c.490T>G (p.Ser164Ala)
Xg.70853114A>GCA413607913TEX11c.445T>C (p.Ser149Pro)
c.490T>C (p.Ser164Pro)
Xg.70853114A>TCA413607912TEX11c.445T>A (p.Ser149Thr)
c.490T>A (p.Ser164Thr)
Xg.70853115G>ACA516759520TEX11c.444C>T (p.Ser148=)
c.489C>T (p.Ser163=)
gnomAD v4
Xg.70853115G>CCA413607914TEX11c.444C>G (p.Ser148Arg)
c.489C>G (p.Ser163Arg)
Xg.70853115G>TCA413607915TEX11c.444C>A (p.Ser148Arg)
c.489C>A (p.Ser163Arg)
Xg.70853116C>ACA413607916TEX11c.443G>T (p.Ser148Ile)
c.488G>T (p.Ser163Ile)
Xg.70853116C>GCA413607917TEX11c.443G>C (p.Ser148Thr)
c.488G>C (p.Ser163Thr)
Xg.70853116C>TCA413607918TEX11c.443G>A (p.Ser148Asn)
c.488G>A (p.Ser163Asn)
gnomAD v4
Xg.70853117T>ACA413607919TEX11c.442A>T (p.Ser148Cys)
c.487A>T (p.Ser163Cys)
Xg.70853117T>CCA413607920TEX11c.442A>G (p.Ser148Gly)
c.487A>G (p.Ser163Gly)
Xg.70853117T>GCA413607921TEX11c.442A>C (p.Ser148Arg)
c.487A>C (p.Ser163Arg)
dbSNP gnomAD v2 gnomAD v4
Xg.70853117T=CA2436261228TEX11c.442A= (p.Ser148=)
c.487A= (p.Ser163=)
Xg.70853118C>ACA413607922TEX11c.441G>T (p.Arg147Ser)
c.486G>T (p.Arg162Ser)
Xg.70853118C>GCA413607923TEX11c.441G>C (p.Arg147Ser)
c.486G>C (p.Arg162Ser)
Xg.70853118C>TCA516759534TEX11c.441G>A (p.Arg147=)
c.486G>A (p.Arg162=)
Xg.70853119C>ACA413607924TEX11c.440G>T (p.Arg147Met)
c.485G>T (p.Arg162Met)
COSMIC COSMIC
Xg.70853119C>GCA413607925TEX11c.440G>C (p.Arg147Thr)
c.485G>C (p.Arg162Thr)
Xg.70853119C>TCA413607926TEX11c.440G>A (p.Arg147Lys)
c.485G>A (p.Arg162Lys)
Xg.70853120T>ACA413607928TEX11c.439A>T (p.Arg147Trp)
c.484A>T (p.Arg162Trp)
dbSNP
Xg.70853120T>CCA413607927TEX11c.439A>G (p.Arg147Gly)
c.484A>G (p.Arg162Gly)
Xg.70853120T>GCA516759549TEX11c.439A>C (p.Arg147=)
c.484A>C (p.Arg162=)
Xg.70853120T=CA2436261229TEX11c.439A= (p.Arg147=)
c.484A= (p.Arg162=)
Xg.70853121T>ACA413607929TEX11c.438A>T (p.Gln146His)
c.483A>T (p.Gln161His)
Xg.70853121T>CCA516759552TEX11c.438A>G (p.Gln146=)
c.483A>G (p.Gln161=)
gnomAD v4
Xg.70853121T>GCA413607930TEX11c.438A>C (p.Gln146His)
c.483A>C (p.Gln161His)
Xg.70853122T>ACA413607931TEX11c.437A>T (p.Gln146Leu)
c.482A>T (p.Gln161Leu)
Xg.70853122T>CCA413607932TEX11c.437A>G (p.Gln146Arg)
c.482A>G (p.Gln161Arg)
Xg.70853122T>GCA413607933TEX11c.437A>C (p.Gln146Pro)
c.482A>C (p.Gln161Pro)
Xg.70853123G>ACA413607934TEX11c.436C>T (p.Gln146Ter)
c.481C>T (p.Gln161Ter)
Xg.70853123G>CCA413607935TEX11c.436C>G (p.Gln146Glu)
c.481C>G (p.Gln161Glu)
Xg.70853123G>TCA413607936TEX11c.436C>A (p.Gln146Lys)
c.481C>A (p.Gln161Lys)
Xg.70853124A>CCA413607937TEX11c.435T>G (p.Ile145Met)
c.480T>G (p.Ile160Met)
Xg.70853124A>GCA516759586TEX11c.435T>C (p.Ile145=)
c.480T>C (p.Ile160=)
Xg.70853124A>TCA516759583TEX11c.435T>A (p.Ile145=)
c.480T>A (p.Ile160=)
Xg.70853125A>CCA413607938TEX11c.434T>G (p.Ile145Ser)
c.479T>G (p.Ile160Ser)
Xg.70853125A>GCA413607939TEX11c.434T>C (p.Ile145Thr)
c.479T>C (p.Ile160Thr)
Xg.70853125A>TCA413607940TEX11c.434T>A (p.Ile145Asn)
c.479T>A (p.Ile160Asn)
Xg.70853126T>ACA331002039TEX11c.433A>T (p.Ile145Phe)
c.478A>T (p.Ile160Phe)
dbSNP
Xg.70853126T>CCA413607942TEX11c.433A>G (p.Ile145Val)
c.478A>G (p.Ile160Val)
Xg.70853126T>GCA413607941TEX11c.433A>C (p.Ile145Leu)
c.478A>C (p.Ile160Leu)
Xg.70853126T=CA2436261230TEX11c.433A= (p.Ile145=)
c.478A= (p.Ile160=)
Xg.70853127T>ACA413607943TEX11c.432A>T (p.Leu144Phe)
c.477A>T (p.Leu159Phe)
Xg.70853127T>CCA516759602TEX11c.432A>G (p.Leu144=)
c.477A>G (p.Leu159=)
Xg.70853127T>GCA413607944TEX11c.432A>C (p.Leu144Phe)
c.477A>C (p.Leu159Phe)
Xg.70853128A>CCA413607945TEX11c.431T>G (p.Leu144Ter)
c.476T>G (p.Leu159Ter)
Xg.70853128A>GCA413607946TEX11c.431T>C (p.Leu144Ser)
c.476T>C (p.Leu159Ser)
Xg.70853128A>TCA413607947TEX11c.431T>A (p.Leu144Ter)
c.476T>A (p.Leu159Ter)
gnomAD v4
Xg.70853129A>CCA413607948TEX11c.430T>G (p.Leu144Val)
c.475T>G (p.Leu159Val)
gnomAD v4
Xg.70853129A>GCA516759606TEX11c.430T>C (p.Leu144=)
c.475T>C (p.Leu159=)
Xg.70853129A>TCA413607949TEX11c.430T>A (p.Leu144Ile)
c.475T>A (p.Leu159Ile)
Xg.70853130T>ACA413607950TEX11c.429A>T (p.Lys143Asn)
c.474A>T (p.Lys158Asn)
Xg.70853130T>CCA516759610TEX11c.429A>G (p.Lys143=)
c.474A>G (p.Lys158=)
Xg.70853130T>GCA413607951TEX11c.429A>C (p.Lys143Asn)
c.474A>C (p.Lys158Asn)
dbSNP
Xg.70853130T=CA2436261231TEX11c.429A= (p.Lys143=)
c.474A= (p.Lys158=)
Xg.70853131T>ACA413607952TEX11c.428A>T (p.Lys143Ile)
c.473A>T (p.Lys158Ile)
Xg.70853131T>CCA413607953TEX11c.428A>G (p.Lys143Arg)
c.473A>G (p.Lys158Arg)
Xg.70853131T>GCA413607954TEX11c.428A>C (p.Lys143Thr)
c.473A>C (p.Lys158Thr)
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)

Number of alleles fetched