Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.1535367G>ACA337865715TMEM240c.514C>T (p.His172Tyr)
1g.1535367G>CCA337865714TMEM240c.514C>G (p.His172Asp)
1g.1535367G>TCA337865713TMEM240c.514C>A (p.His172Asn)
1g.1535368C>ACA415388110TMEM240c.513G>T (p.Arg171=)
1g.1535368C=CA1149191627TMEM240c.513G= (p.Arg171=)
1g.1535368C>GCA415388112TMEM240c.513G>C (p.Arg171=)
1g.1535368C>TCA415388111TMEM240c.513G>A (p.Arg171=)
dbSNP gnomAD v4
1g.1535369C>ACA337865716TMEM240c.512G>T (p.Arg171Leu)
1g.1535369C=CA1149191632TMEM240c.512G= (p.Arg171=)
1g.1535369C>GCA337865717TMEM240c.512G>C (p.Arg171Pro)
1g.1535369C>TCA526626TMEM240c.512G>A (p.Arg171Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535370G>ACA272849TMEM240c.511C>T (p.Arg171Trp)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.1535370G>CCA337865718TMEM240c.511C>G (p.Arg171Gly)
1g.1535370G=CA1148224143TMEM240c.511C= (p.Arg171=)
1g.1535370G>TCA415388113TMEM240c.511C>A (p.Arg171=)
dbSNP gnomAD v4
1g.1535371C>ACA415388114TMEM240c.510G>T (p.Pro170=)
1g.1535371C=CA1149073123TMEM240c.510G= (p.Pro170=)
1g.1535371C>GCA415388115TMEM240c.510G>C (p.Pro170=)
1g.1535371C>TCA526627TMEM240c.510G>A (p.Pro170=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535372G>ACA272844TMEM240c.509C>T (p.Pro170Leu)
ClinVar dbSNP gnomAD v4
1g.1535372G>CCA337865720TMEM240c.509C>G (p.Pro170Arg)
dbSNP gnomAD v3 gnomAD v4
1g.1535372G=CA1148224144TMEM240c.509C= (p.Pro170=)
1g.1535372G>TCA337865722TMEM240c.509C>A (p.Pro170Gln)
gnomAD v4 COSMIC
1g.1535373G>ACA337865725TMEM240c.508C>T (p.Pro170Ser)
ClinVar
1g.1535373G>CCA337865726TMEM240c.508C>G (p.Pro170Ala)
1g.1535373G>TCA337865728TMEM240c.508C>A (p.Pro170Thr)
1g.1535374G>ACA415388116TMEM240c.507C>T (p.Ser169=)
1g.1535374G>CCA337865731TMEM240c.507C>G (p.Ser169Arg)
1g.1535374G>TCA337865730TMEM240c.507C>A (p.Ser169Arg)
1g.1535375C>ACA337865732TMEM240c.506G>T (p.Ser169Ile)
gnomAD v4
1g.1535375C>GCA337865733TMEM240c.506G>C (p.Ser169Thr)
1g.1535375C>TCA337865734TMEM240c.506G>A (p.Ser169Asn)
gnomAD v4
1g.1535376T>ACA337865735TMEM240c.505A>T (p.Ser169Cys)
1g.1535376T>CCA337865737TMEM240c.505A>G (p.Ser169Gly)
1g.1535376T>GCA337865739TMEM240c.505A>C (p.Ser169Arg)
1g.1535377G>ACA415388117TMEM240c.504C>T (p.Pro168=)
1g.1535377G>CCA415388118TMEM240c.504C>G (p.Pro168=)
1g.1535377G=CA1149191653TMEM240c.504C= (p.Pro168=)
1g.1535377G>TCA415388119TMEM240c.504C>A (p.Pro168=)
dbSNP gnomAD v2 gnomAD v4
1g.1535380delCA2642615566TMEM240c.504del (p.Ser169AlafsTer24)
gnomAD v4
1g.1535378G>ACA337865743TMEM240c.503C>T (p.Pro168Leu)
1g.1535378G>CCA337865740TMEM240c.503C>G (p.Pro168Arg)
1g.1535378G=CA1149191657TMEM240c.503C= (p.Pro168=)
1g.1535378G>TCA337865741TMEM240c.503C>A (p.Pro168His)
dbSNP
1g.1535379G>ACA337865745TMEM240c.502C>T (p.Pro168Ser)
gnomAD v4
1g.1535379G>CCA337865746TMEM240c.502C>G (p.Pro168Ala)
1g.1535379G>TCA337865747TMEM240c.502C>A (p.Pro168Thr)
gnomAD v4
1g.1535380G>ACA415388120TMEM240c.501C>T (p.His167=)
1g.1535380G>CCA337865748TMEM240c.501C>G (p.His167Gln)
dbSNP gnomAD v2 gnomAD v4
1g.1535380G=CA1149191664TMEM240c.501C= (p.His167=)
1g.1535380G>TCA337865749TMEM240c.501C>A (p.His167Gln)
gnomAD v4
1g.1535381T>ACA337865750TMEM240c.500A>T (p.His167Leu)
1g.1535381T>CCA337865752TMEM240c.500A>G (p.His167Arg)
1g.1535381T>GCA337865751TMEM240c.500A>C (p.His167Pro)
1g.1535382G>ACA337865753TMEM240c.499C>T (p.His167Tyr)
dbSNP gnomAD v2 gnomAD v4
1g.1535382G>CCA337865755TMEM240c.499C>G (p.His167Asp)
1g.1535382G=CA1149191669TMEM240c.499C= (p.His167=)
1g.1535382G>TCA337865756TMEM240c.499C>A (p.His167Asn)
1g.1535383G>ACA415388121TMEM240c.498C>T (p.Gly166=)
1g.1535383G>CCA415388123TMEM240c.498C>G (p.Gly166=)
1g.1535383G>TCA415388122TMEM240c.498C>A (p.Gly166=)
1g.1535384C>ACA337865758TMEM240c.497G>T (p.Gly166Val)
1g.1535384C>GCA337865760TMEM240c.497G>C (p.Gly166Ala)
1g.1535384C>TCA337865761TMEM240c.497G>A (p.Gly166Asp)
1g.1535385C>ACA337865763TMEM240c.496G>T (p.Gly166Cys)
1g.1535385C>GCA337865765TMEM240c.496G>C (p.Gly166Arg)
1g.1535385C>TCA337865766TMEM240c.496G>A (p.Gly166Ser)
1g.1535386A=CA1149191686TMEM240c.495T= (p.Asn165=)
1g.1535386A>CCA337865767TMEM240c.495T>G (p.Asn165Lys)
1g.1535386A>GCA16796562TMEM240c.495T>C (p.Asn165=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535386A>TCA337865768TMEM240c.495T>A (p.Asn165Lys)
1g.1535387T>ACA337865774TMEM240c.494A>T (p.Asn165Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535387T>CCA337865772TMEM240c.494A>G (p.Asn165Ser)
1g.1535387T>GCA337865771TMEM240c.494A>C (p.Asn165Thr)
1g.1535387T=CA1149191697TMEM240c.494A= (p.Asn165=)
1g.1535388T>ACA337865775TMEM240c.493A>T (p.Asn165Tyr)
1g.1535388T>CCA337865777TMEM240c.493A>G (p.Asn165Asp)
dbSNP gnomAD v2 gnomAD v4
1g.1535388T>GCA337865776TMEM240c.493A>C (p.Asn165His)
gnomAD v4
1g.1535388T=CA1149191720TMEM240c.493A= (p.Asn165=)
1g.1535388_1535391delinsTGTGCA1149191718TMEM240c.490_493delinsCACA (p.His164=)
1g.1535389G>ACA526629TMEM240c.492C>T (p.His164=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535389G>CCA337865778TMEM240c.492C>G (p.His164Gln)
1g.1535389G=CA1144055408TMEM240c.492C= (p.His164=)
1g.1535389G>TCA337865779TMEM240c.492C>A (p.His164Gln)
1g.1535391_1535393delCA526628TMEM240c.490_492del (p.His164del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535390T>ACA337865780TMEM240c.491A>T (p.His164Leu)
1g.1535390T>CCA337865781TMEM240c.491A>G (p.His164Arg)
1g.1535390T>GCA337865782TMEM240c.491A>C (p.His164Pro)
1g.1535391G>ACA337865783TMEM240c.490C>T (p.His164Tyr)
1g.1535391G>CCA337865785TMEM240c.490C>G (p.His164Asp)
1g.1535391G>TCA337865786TMEM240c.490C>A (p.His164Asn)
gnomAD v4
1g.1535392G>ACA16796571TMEM240c.489C>T (p.Tyr163=)
dbSNP gnomAD v4
1g.1535392G>CCA272845TMEM240c.489C>G (p.Tyr163Ter)
ClinVar dbSNP
1g.1535392G=CA1148224145TMEM240c.489C= (p.Tyr163=)
1g.1535392G>TCA337865787TMEM240c.489C>A (p.Tyr163Ter)
1g.1535393T>ACA337865790TMEM240c.488A>T (p.Tyr163Phe)
1g.1535393T>CCA337865788TMEM240c.488A>G (p.Tyr163Cys)
dbSNP gnomAD v3 gnomAD v4
1g.1535393T>GCA337865789TMEM240c.488A>C (p.Tyr163Ser)
1g.1535393T=CA1149191754TMEM240c.488A= (p.Tyr163=)
1g.1535394A=CA1149191759TMEM240c.487T= (p.Tyr163=)
1g.1535394A>CCA337865791TMEM240c.487T>G (p.Tyr163Asp)
1g.1535394A>GCA337865793TMEM240c.487T>C (p.Tyr163His)
dbSNP gnomAD v3 gnomAD v4
1g.1535394A>TCA337865794TMEM240c.487T>A (p.Tyr163Asn)
1g.1535395G>ACA415388124TMEM240c.486C>T (p.Leu162=)
1g.1535395G>CCA415388125TMEM240c.486C>G (p.Leu162=)
gnomAD v4
1g.1535395G>TCA415388126TMEM240c.486C>A (p.Leu162=)
gnomAD v4
1g.1535396A=CA1149191765TMEM240c.485T= (p.Leu162=)
1g.1535396A>CCA337865798TMEM240c.485T>G (p.Leu162Arg)
1g.1535396A>GCA337865800TMEM240c.485T>C (p.Leu162Pro)
gnomAD v4
1g.1535396A>TCA337865801TMEM240c.485T>A (p.Leu162His)
dbSNP gnomAD v2 gnomAD v4
1g.1535397G>ACA337865804TMEM240c.484C>T (p.Leu162Phe)
dbSNP
1g.1535397G>CCA337865806TMEM240c.484C>G (p.Leu162Val)
gnomAD v4
1g.1535397G=CA1149191770TMEM240c.484C= (p.Leu162=)
1g.1535397G>TCA337865807TMEM240c.484C>A (p.Leu162Ile)
1g.1535398T>ACA337865809TMEM240c.483A>T (p.Lys161Asn)
1g.1535398T>CCA415388127TMEM240c.483A>G (p.Lys161=)
1g.1535398T>GCA337865811TMEM240c.483A>C (p.Lys161Asn)
1g.1535399T>ACA337865817TMEM240c.482A>T (p.Lys161Ile)
1g.1535399T>CCA337865815TMEM240c.482A>G (p.Lys161Arg)
1g.1535399T>GCA337865813TMEM240c.482A>C (p.Lys161Thr)
1g.1535400T>ACA337865818TMEM240c.481A>T (p.Lys161Ter)
1g.1535400T>CCA337865820TMEM240c.481A>G (p.Lys161Glu)
1g.1535400T>GCA337865822TMEM240c.481A>C (p.Lys161Gln)
1g.1535401C>ACA337865826TMEM240c.480G>T (p.Gln160His)
1g.1535401C>GCA337865827TMEM240c.480G>C (p.Gln160His)
1g.1535401C>TCA415388128TMEM240c.480G>A (p.Gln160=)
1g.1535402T>ACA337865831TMEM240c.479A>T (p.Gln160Leu)
1g.1535402T>CCA337865832TMEM240c.479A>G (p.Gln160Arg)
1g.1535402T>GCA337865835TMEM240c.479A>C (p.Gln160Pro)
dbSNP gnomAD v4
1g.1535402T=CA1149191774TMEM240c.479A= (p.Gln160=)
1g.1535403G>ACA337865836TMEM240c.478C>T (p.Gln160Ter)
1g.1535403G>CCA337865837TMEM240c.478C>G (p.Gln160Glu)
dbSNP
1g.1535403G=CA1149191777TMEM240c.478C= (p.Gln160=)
1g.1535403G>TCA337865838TMEM240c.478C>A (p.Gln160Lys)
1g.1535404C>ACA337865839TMEM240c.477G>T (p.Lys159Asn)
1g.1535404C>GCA337865840TMEM240c.477G>C (p.Lys159Asn)
1g.1535404C>TCA415388129TMEM240c.477G>A (p.Lys159=)
1g.1535405T>ACA337865843TMEM240c.476A>T (p.Lys159Met)
1g.1535405T>CCA337865841TMEM240c.476A>G (p.Lys159Arg)
gnomAD v4
1g.1535405T>GCA337865842TMEM240c.476A>C (p.Lys159Thr)
1g.1535406T>ACA337865844TMEM240c.475A>T (p.Lys159Ter)
1g.1535406T>CCA337865845TMEM240c.475A>G (p.Lys159Glu)
1g.1535406T>GCA337865846TMEM240c.475A>C (p.Lys159Gln)
1g.1535407C>ACA415388131TMEM240c.474G>T (p.Val158=)
1g.1535407C>GCA415388132TMEM240c.474G>C (p.Val158=)
1g.1535407C>TCA415388130TMEM240c.474G>A (p.Val158=)
1g.1535408A>CCA337865847TMEM240c.473T>G (p.Val158Gly)
1g.1535408A>GCA337865848TMEM240c.473T>C (p.Val158Ala)
1g.1535408A>TCA337865849TMEM240c.473T>A (p.Val158Glu)
1g.1535409C>ACA337865850TMEM240c.472G>T (p.Val158Leu)
1g.1535409C=CA1149191782TMEM240c.472G= (p.Val158=)
1g.1535409C>GCA337865851TMEM240c.472G>C (p.Val158Leu)
gnomAD v3 gnomAD v4
1g.1535409C>TCA16796572TMEM240c.472G>A (p.Val158Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535410G>ACA16796573TMEM240c.471C>T (p.His157=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535410G>CCA337865852TMEM240c.471C>G (p.His157Gln)
1g.1535410G=CA1149191784TMEM240c.471C= (p.His157=)
1g.1535410G>TCA337865853TMEM240c.471C>A (p.His157Gln)
1g.1535411T>ACA337865856TMEM240c.470A>T (p.His157Leu)
1g.1535411T>CCA337865855TMEM240c.470A>G (p.His157Arg)
dbSNP
1g.1535411T>GCA337865854TMEM240c.470A>C (p.His157Pro)
1g.1535411T=CA1149191788TMEM240c.470A= (p.His157=)
1g.1535412G>ACA337865857TMEM240c.469C>T (p.His157Tyr)
gnomAD v4
1g.1535412G>CCA337865859TMEM240c.469C>G (p.His157Asp)
gnomAD v4
1g.1535412G=CA1149191803TMEM240c.469C= (p.His157=)
1g.1535412G>TCA337865858TMEM240c.469C>A (p.His157Asn)
dbSNP gnomAD v2 gnomAD v4
1g.1535413T>ACA415388133TMEM240c.468A>T (p.Val156=)
1g.1535413T>CCA415388134TMEM240c.468A>G (p.Val156=)
dbSNP gnomAD v2 gnomAD v4
1g.1535413T>GCA415388135TMEM240c.468A>C (p.Val156=)
gnomAD v4
1g.1535413T=CA1149191807TMEM240c.468A= (p.Val156=)
1g.1535414A>CCA337865860TMEM240c.467T>G (p.Val156Gly)
1g.1535414A>GCA337865862TMEM240c.467T>C (p.Val156Ala)
1g.1535414A>TCA337865861TMEM240c.467T>A (p.Val156Glu)
1g.1535415C>ACA337865863TMEM240c.466G>T (p.Val156Leu)
1g.1535415C=CA1149191817TMEM240c.466G= (p.Val156=)
1g.1535415C>GCA337865864TMEM240c.466G>C (p.Val156Leu)
1g.1535415C>TCA16796575TMEM240c.466G>A (p.Val156Ile)
dbSNP gnomAD v2 gnomAD v4
1g.1535416C>ACA526630TMEM240c.465G>T (p.Met155Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.1535416C=CA1149191823TMEM240c.465G= (p.Met155=)
1g.1535416C>GCA337865866TMEM240c.465G>C (p.Met155Ile)
gnomAD v4
1g.1535416C>TCA337865867TMEM240c.465G>A (p.Met155Ile)
dbSNP
1g.1535417A>CCA337865869TMEM240c.464T>G (p.Met155Arg)
1g.1535417A>GCA337865871TMEM240c.464T>C (p.Met155Thr)
gnomAD v4
1g.1535417A>TCA337865872TMEM240c.464T>A (p.Met155Lys)
gnomAD v4
1g.1535418T>ACA337865874TMEM240c.463A>T (p.Met155Leu)
1g.1535418T>CCA337865877TMEM240c.463A>G (p.Met155Val)
dbSNP gnomAD v2 gnomAD v4
1g.1535418T>GCA337865878TMEM240c.463A>C (p.Met155Leu)
1g.1535418T=CA1149191831TMEM240c.463A= (p.Met155=)
1g.1535419G>ACA415388137TMEM240c.462C>T (p.Asn154=)
gnomAD v4
1g.1535419G>CCA337865881TMEM240c.462C>G (p.Asn154Lys)
dbSNP gnomAD v2 gnomAD v4
1g.1535419G=CA1149191835TMEM240c.462C= (p.Asn154=)
1g.1535419G>TCA337865880TMEM240c.462C>A (p.Asn154Lys)
1g.1535420T>ACA337865883TMEM240c.461A>T (p.Asn154Ile)
1g.1535420T>CCA337865886TMEM240c.461A>G (p.Asn154Ser)
gnomAD v4
1g.1535420T>GCA337865888TMEM240c.461A>C (p.Asn154Thr)
1g.1535421T>ACA337865890TMEM240c.460A>T (p.Asn154Tyr)
1g.1535421T>CCA337865891TMEM240c.460A>G (p.Asn154Asp)
dbSNP gnomAD v2 gnomAD v4
1g.1535421T>GCA337865894TMEM240c.460A>C (p.Asn154His)
1g.1535421T=CA1149191844TMEM240c.460A= (p.Asn154=)
1g.1535422C>ACA415388138TMEM240c.459G>T (p.Gly153=)
1g.1535422C>GCA415388139TMEM240c.459G>C (p.Gly153=)
gnomAD v4
1g.1535422C>TCA415388140TMEM240c.459G>A (p.Gly153=)
1g.1535423C>ACA337865897TMEM240c.458G>T (p.Gly153Val)
1g.1535423C=CA1149191856TMEM240c.458G= (p.Gly153=)
1g.1535423C>GCA337865899TMEM240c.458G>C (p.Gly153Ala)
ClinVar dbSNP
1g.1535423C>TCA337865901TMEM240c.458G>A (p.Gly153Glu)
1g.1535424C>ACA337865903TMEM240c.457G>T (p.Gly153Trp)
1g.1535424C=CA1149191861TMEM240c.457G= (p.Gly153=)
1g.1535424C>GCA337865906TMEM240c.457G>C (p.Gly153Arg)
dbSNP gnomAD v3 gnomAD v4
1g.1535424C>TCA337865907TMEM240c.457G>A (p.Gly153Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1535425G>ACA526631TMEM240c.456C>T (p.Ala152=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1535425G>CCA415388141TMEM240c.456C>G (p.Ala152=)
1g.1535425G=CA1148561453TMEM240c.456C= (p.Ala152=)
1g.1535425G>TCA526632TMEM240c.456C>A (p.Ala152=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535426G>ACA337865908TMEM240c.455C>T (p.Ala152Val)
dbSNP gnomAD v4
1g.1535426G>CCA337865909TMEM240c.455C>G (p.Ala152Gly)
1g.1535426G=CA1149191869TMEM240c.455C= (p.Ala152=)
1g.1535426G>TCA337865910TMEM240c.455C>A (p.Ala152Asp)
1g.1535427C>ACA337865911TMEM240c.454G>T (p.Ala152Ser)
1g.1535427C=CA1142100667TMEM240c.454G= (p.Ala152=)
1g.1535427C>GCA337865913TMEM240c.454G>C (p.Ala152Pro)
1g.1535427C>TCA526633TMEM240c.454G>A (p.Ala152Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535428G>ACA526634TMEM240c.453C>T (p.Ala151=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535428G>CCA415388143TMEM240c.453C>G (p.Ala151=)
1g.1535428G=CA1143358796TMEM240c.453C= (p.Ala151=)
1g.1535428G>TCA415388142TMEM240c.453C>A (p.Ala151=)
1g.1535429G>ACA337865915TMEM240c.452C>T (p.Ala151Val)
1g.1535429G>CCA337865916TMEM240c.452C>G (p.Ala151Gly)
1g.1535429G=CA1149191885TMEM240c.452C= (p.Ala151=)
1g.1535429G>TCA337865918TMEM240c.452C>A (p.Ala151Asp)
dbSNP gnomAD v2 gnomAD v4
1g.1535430C>ACA337865920TMEM240c.451G>T (p.Ala151Ser)
dbSNP gnomAD v2 gnomAD v4
1g.1535430C=CA1149191889TMEM240c.451G= (p.Ala151=)
1g.1535430C>GCA337865922TMEM240c.451G>C (p.Ala151Pro)
1g.1535430C>TCA337865924TMEM240c.451G>A (p.Ala151Thr)
dbSNP gnomAD v4
1g.1535431C>ACA337865929TMEM240c.450G>T (p.Glu150Asp)
1g.1535431C=CA1149191890TMEM240c.450G= (p.Glu150=)
1g.1535431C>GCA337865927TMEM240c.450G>C (p.Glu150Asp)
dbSNP gnomAD v4
1g.1535431C>TCA526635TMEM240c.450G>A (p.Glu150=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535432delCA2642615567TMEM240c.449del (p.Glu150GlyfsTer9)
gnomAD v4
1g.1535432T>ACA337865931TMEM240c.449A>T (p.Glu150Val)
1g.1535432T>CCA337865932TMEM240c.449A>G (p.Glu150Gly)
dbSNP
1g.1535432T>GCA16796593TMEM240c.449A>C (p.Glu150Ala)
dbSNP gnomAD v4
1g.1535432T=CA1149191893TMEM240c.449A= (p.Glu150=)
1g.1535433C>ACA337865935TMEM240c.448G>T (p.Glu150Ter)
COSMIC
1g.1535433C>GCA337865937TMEM240c.448G>C (p.Glu150Gln)
1g.1535433C>TCA337865939TMEM240c.448G>A (p.Glu150Lys)
1g.1535434C>ACA337865941TMEM240c.447G>T (p.Glu149Asp)
1g.1535434C=CA1149191896TMEM240c.447G= (p.Glu149=)
1g.1535434C>GCA337865943TMEM240c.447G>C (p.Glu149Asp)
1g.1535434C>TCA415388144TMEM240c.447G>A (p.Glu149=)
dbSNP gnomAD v4
1g.1535435T>ACA337865945TMEM240c.446A>T (p.Glu149Val)
1g.1535435T>CCA337865948TMEM240c.446A>G (p.Glu149Gly)
1g.1535435T>GCA337865949TMEM240c.446A>C (p.Glu149Ala)
gnomAD v4
1g.1535436C>ACA337865954TMEM240c.445G>T (p.Glu149Ter)
1g.1535436C=CA1145685708TMEM240c.445G= (p.Glu149=)
1g.1535436C>GCA16796597TMEM240c.445G>C (p.Glu149Gln)
dbSNP gnomAD v4
1g.1535436C>TCA526636TMEM240c.445G>A (p.Glu149Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1535437G>ACA16796607TMEM240c.444C>T (p.Phe148=)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.1535437G>CCA337865958TMEM240c.444C>G (p.Phe148Leu)
1g.1535437G=CA1143918116TMEM240c.444C= (p.Phe148=)
1g.1535437G>TCA337865956TMEM240c.444C>A (p.Phe148Leu)
1g.1535438A=CA1149191904TMEM240c.443T= (p.Phe148=)
1g.1535438A>CCA337865960TMEM240c.443T>G (p.Phe148Cys)
1g.1535438A>GCA16796621TMEM240c.443T>C (p.Phe148Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535438A>TCA337865962TMEM240c.443T>A (p.Phe148Tyr)
1g.1535438_1535447delCA2642615568TMEM240c.434_443del (p.His145ProfsTer11)
gnomAD v4
1g.1535439A>CCA337865964TMEM240c.442T>G (p.Phe148Val)
1g.1535439A>GCA337865966TMEM240c.442T>C (p.Phe148Leu)
ClinVar dbSNP
1g.1535439A>TCA337865968TMEM240c.442T>A (p.Phe148Ile)
1g.1535440G>ACA415388145TMEM240c.441C>T (p.Pro147=)
1g.1535440G>CCA415388146TMEM240c.441C>G (p.Pro147=)
1g.1535440G=CA1149191923TMEM240c.441C= (p.Pro147=)
1g.1535440G>TCA415388147TMEM240c.441C>A (p.Pro147=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535441G>ACA337865971TMEM240c.440C>T (p.Pro147Leu)
1g.1535441G>CCA337865973TMEM240c.440C>G (p.Pro147Arg)
gnomAD v4
1g.1535441G>TCA337865976TMEM240c.440C>A (p.Pro147His)
1g.1535445_1535453delCA2642615569TMEM240c.432_440del (p.His145_Pro147del)
gnomAD v4
1g.1535442G>ACA337865977TMEM240c.439C>T (p.Pro147Ser)
1g.1535442G>CCA337865979TMEM240c.439C>G (p.Pro147Ala)
1g.1535442G>TCA337865982TMEM240c.439C>A (p.Pro147Thr)
1g.1535443C>ACA337865992TMEM240c.438G>T (p.Arg146Ser)
1g.1535443C=CA1149191931TMEM240c.438G= (p.Arg146=)
1g.1535443C>GCA337865990TMEM240c.438G>C (p.Arg146Ser)
dbSNP gnomAD v3 gnomAD v4
1g.1535443C>TCA415388148TMEM240c.438G>A (p.Arg146=)
dbSNP gnomAD v2 gnomAD v4
1g.1535444C>ACA337865993TMEM240c.437G>T (p.Arg146Met)
dbSNP gnomAD v2 gnomAD v4
1g.1535444C=CA1149191937TMEM240c.437G= (p.Arg146=)
1g.1535444C>GCA337865994TMEM240c.437G>C (p.Arg146Thr)
dbSNP gnomAD v3 gnomAD v4
1g.1535444C>TCA337865996TMEM240c.437G>A (p.Arg146Lys)
1g.1535445T>ACA337865998TMEM240c.436A>T (p.Arg146Trp)
1g.1535445T>CCA337865999TMEM240c.436A>G (p.Arg146Gly)
gnomAD v4
1g.1535445T>GCA415388149TMEM240c.436A>C (p.Arg146=)
dbSNP
1g.1535446G>ACA415388150TMEM240c.435C>T (p.His145=)
1g.1535446G>CCA337866000TMEM240c.435C>G (p.His145Gln)
1g.1535446G=CA1149191941TMEM240c.435C= (p.His145=)
1g.1535446G>TCA337866001TMEM240c.435C>A (p.His145Gln)
dbSNP gnomAD v2 COSMIC
1g.1535447T>ACA337866004TMEM240c.434A>T (p.His145Leu)
1g.1535447T>CCA337866007TMEM240c.434A>G (p.His145Arg)
1g.1535447T>GCA337866009TMEM240c.434A>C (p.His145Pro)
1g.1535448G>ACA337866011TMEM240c.433C>T (p.His145Tyr)
1g.1535448G>CCA337866012TMEM240c.433C>G (p.His145Asp)
1g.1535448G>TCA337866014TMEM240c.433C>A (p.His145Asn)
1g.1535449C>ACA415388151TMEM240c.432G>T (p.Pro144=)
gnomAD v4
1g.1535449C=CA1147194583TMEM240c.432G= (p.Pro144=)
1g.1535449C>GCA415388152TMEM240c.432G>C (p.Pro144=)
gnomAD v4
1g.1535449C>TCA526637TMEM240c.432G>A (p.Pro144=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1535450G>ACA16796626TMEM240c.431C>T (p.Pro144Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535450G>CCA16796629TMEM240c.431C>G (p.Pro144Arg)
dbSNP gnomAD v2 gnomAD v4
1g.1535450G=CA1149191950TMEM240c.431C= (p.Pro144=)
1g.1535450G>TCA337866018TMEM240c.431C>A (p.Pro144Gln)
1g.1535451G>ACA337866020TMEM240c.430C>T (p.Pro144Ser)
1g.1535451G>CCA337866021TMEM240c.430C>G (p.Pro144Ala)
dbSNP
1g.1535451G>TCA337866023TMEM240c.430C>A (p.Pro144Thr)
gnomAD v4
1g.1535452C>ACA415388153TMEM240c.429G>T (p.Arg143=)
1g.1535452C=CA1149191959TMEM240c.429G= (p.Arg143=)
1g.1535452C>GCA415388154TMEM240c.429G>C (p.Arg143=)
1g.1535452C>TCA415388155TMEM240c.429G>A (p.Arg143=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535453C>ACA337866024TMEM240c.428G>T (p.Arg143Leu)
1g.1535453C=CA1149191967TMEM240c.428G= (p.Arg143=)
1g.1535453C>GCA337866026TMEM240c.428G>C (p.Arg143Pro)
1g.1535453C>TCA526638TMEM240c.428G>A (p.Arg143Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535454G>ACA16796641TMEM240c.427C>T (p.Arg143Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535454G>CCA337866029TMEM240c.427C>G (p.Arg143Gly)
1g.1535454G=CA1149191972TMEM240c.427C= (p.Arg143=)
1g.1535454G>TCA415388156TMEM240c.427C>A (p.Arg143=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.1535455C>ACA415388157TMEM240c.426G>T (p.Arg142=)
gnomAD v4
1g.1535455C>GCA415388158TMEM240c.426G>C (p.Arg142=)
1g.1535455C>TCA415388159TMEM240c.426G>A (p.Arg142=)
1g.1535456C>ACA337866031TMEM240c.425G>T (p.Arg142Leu)
1g.1535456C=CA1149191977TMEM240c.425G= (p.Arg142=)
1g.1535456C>GCA337866033TMEM240c.425G>C (p.Arg142Pro)
1g.1535456C>TCA526639TMEM240c.425G>A (p.Arg142Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535457G>ACA526640TMEM240c.424C>T (p.Arg142Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535457G>CCA337866034TMEM240c.424C>G (p.Arg142Gly)
dbSNP gnomAD v4
1g.1535457G=CA1149191988TMEM240c.424C= (p.Arg142=)
1g.1535457G>TCA415388160TMEM240c.424C>A (p.Arg142=)
1g.1535460_1535474dupCA2642615570TMEM240c.410_424dup (p.Gly141_Arg142insLeuArgGluLeuGly)
gnomAD v4
1g.1535460_1535474delCA2574171683TMEM240c.410_424del (p.Leu137_Gly141del)
gnomAD v4
1g.1535458G>ACA526641TMEM240c.423C>T (p.Gly141=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535458G>CCA415388161TMEM240c.423C>G (p.Gly141=)
1g.1535458G=CA1145094928TMEM240c.423C= (p.Gly141=)
1g.1535458G>TCA415388162TMEM240c.423C>A (p.Gly141=)
gnomAD v4
1g.1535459C>ACA337866041TMEM240c.422G>T (p.Gly141Val)
1g.1535459C>GCA337866043TMEM240c.422G>C (p.Gly141Ala)
1g.1535459C>TCA337866045TMEM240c.422G>A (p.Gly141Asp)
1g.1535460C>ACA337866047TMEM240c.421G>T (p.Gly141Cys)
1g.1535460C=CA1149191992TMEM240c.421G= (p.Gly141=)
1g.1535460C>GCA337866050TMEM240c.421G>C (p.Gly141Arg)
dbSNP gnomAD v3 gnomAD v4
1g.1535460C>TCA337866052TMEM240c.421G>A (p.Gly141Ser)
dbSNP
1g.1535461C>ACA415388163TMEM240c.420G>T (p.Leu140=)
1g.1535461C>GCA415388164TMEM240c.420G>C (p.Leu140=)
1g.1535461C>TCA415388165TMEM240c.420G>A (p.Leu140=)
1g.1535462A>CCA337866053TMEM240c.419T>G (p.Leu140Arg)
1g.1535462A>GCA337866055TMEM240c.419T>C (p.Leu140Pro)
1g.1535462A>TCA337866057TMEM240c.419T>A (p.Leu140Gln)
ClinVar dbSNP
1g.1535463G>ACA415388166TMEM240c.418C>T (p.Leu140=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535463G>CCA337866060TMEM240c.418C>G (p.Leu140Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535463G=CA1149192000TMEM240c.418C= (p.Leu140=)
1g.1535463G>TCA337866061TMEM240c.418C>A (p.Leu140Met)
1g.1535464C>ACA337866063TMEM240c.417G>T (p.Glu139Asp)
1g.1535464C=CA1149192007TMEM240c.417G= (p.Glu139=)
1g.1535464C>GCA337866064TMEM240c.417G>C (p.Glu139Asp)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1535464C>TCA415388167TMEM240c.417G>A (p.Glu139=)
1g.1535465T>ACA337866069TMEM240c.416A>T (p.Glu139Val)
1g.1535465T>CCA337866072TMEM240c.416A>G (p.Glu139Gly)
1g.1535465T>GCA337866066TMEM240c.416A>C (p.Glu139Ala)
1g.1535466C>ACA337866078TMEM240c.415G>T (p.Glu139Ter)
1g.1535466C=CA1149192018TMEM240c.415G= (p.Glu139=)
1g.1535466C>GCA337866075TMEM240c.415G>C (p.Glu139Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.1535466C>TCA337866080TMEM240c.415G>A (p.Glu139Lys)
gnomAD v4
1g.1535467C>ACA415388170TMEM240c.414G>T (p.Arg138=)
1g.1535467C>GCA415388169TMEM240c.414G>C (p.Arg138=)
1g.1535467C>TCA415388168TMEM240c.414G>A (p.Arg138=)

Number of alleles fetched