Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.1535629C>ACA415768594TMEM240c.333G>T (p.Leu111=)
1g.1535629C>GCA415768596TMEM240c.333G>C (p.Leu111=)
1g.1535629C>TCA415768597TMEM240c.333G>A (p.Leu111=)
gnomAD v4
1g.1535630A>CCA337866504TMEM240c.332T>G (p.Leu111Arg)
1g.1535630A>GCA337866506TMEM240c.332T>C (p.Leu111Pro)
1g.1535630A>TCA337866508TMEM240c.332T>A (p.Leu111Gln)
1g.1535631G>ACA415768600TMEM240c.331C>T (p.Leu111=)
gnomAD v4
1g.1535631G>CCA337866509TMEM240c.331C>G (p.Leu111Val)
1g.1535631G>TCA337866511TMEM240c.331C>A (p.Leu111Met)
1g.1535632G>ACA415768603TMEM240c.330C>T (p.Val110=)
gnomAD v4
1g.1535632G>CCA415768601TMEM240c.330C>G (p.Val110=)
dbSNP
1g.1535632G=CA1149192724TMEM240c.330C= (p.Val110=)
1g.1535632G>TCA415768602TMEM240c.330C>A (p.Val110=)
dbSNP gnomAD v3 gnomAD v4
1g.1535633A>CCA337866515TMEM240c.329T>G (p.Val110Gly)
1g.1535633A>GCA337866518TMEM240c.329T>C (p.Val110Ala)
1g.1535633A>TCA337866530TMEM240c.329T>A (p.Val110Asp)
1g.1535634C>ACA337866535TMEM240c.328G>T (p.Val110Phe)
1g.1535634C=CA1149192731TMEM240c.328G= (p.Val110=)
1g.1535634C>GCA337866534TMEM240c.328G>C (p.Val110Leu)
1g.1535634C>TCA16796869TMEM240c.328G>A (p.Val110Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535635G>ACA526680TMEM240c.327C>T (p.Gly109=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535635G>CCA415768607TMEM240c.327C>G (p.Gly109=)
dbSNP gnomAD v2 gnomAD v4
1g.1535635G=CA1144117645TMEM240c.327C= (p.Gly109=)
1g.1535635G>TCA415768608TMEM240c.327C>A (p.Gly109=)
dbSNP gnomAD v2 gnomAD v4
1g.1535636C>ACA337866537TMEM240c.326G>T (p.Gly109Val)
1g.1535636C>GCA337866538TMEM240c.326G>C (p.Gly109Ala)
1g.1535636C>TCA337866540TMEM240c.326G>A (p.Gly109Asp)
1g.1535637delCA2642615644TMEM240c.326del (p.Gly109AlafsTer?)
gnomAD v4
1g.1535637C>ACA337866541TMEM240c.325G>T (p.Gly109Cys)
1g.1535637C=CA1142891197TMEM240c.325G= (p.Gly109=)
1g.1535637C>GCA337866543TMEM240c.325G>C (p.Gly109Arg)
gnomAD v4
1g.1535637C>TCA526681TMEM240c.325G>A (p.Gly109Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535638G>ACA526682TMEM240c.324C>T (p.Asp108=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535638G>CCA337866545TMEM240c.324C>G (p.Asp108Glu)
1g.1535638G=CA1149192748TMEM240c.324C= (p.Asp108=)
1g.1535638G>TCA337866547TMEM240c.324C>A (p.Asp108Glu)
1g.1535639T>ACA337866549TMEM240c.323A>T (p.Asp108Val)
1g.1535639T>CCA337866551TMEM240c.323A>G (p.Asp108Gly)
1g.1535639T>GCA337866552TMEM240c.323A>C (p.Asp108Ala)
1g.1535640C>ACA337866555TMEM240c.322G>T (p.Asp108Tyr)
1g.1535640C>GCA337866556TMEM240c.322G>C (p.Asp108His)
1g.1535640C>TCA337866554TMEM240c.322G>A (p.Asp108Asn)
1g.1535641C>ACA337866557TMEM240c.321G>T (p.Met107Ile)
1g.1535641C>GCA337866559TMEM240c.321G>C (p.Met107Ile)
1g.1535641C>TCA337866558TMEM240c.321G>A (p.Met107Ile)
gnomAD v4
1g.1535642A=CA1149192750TMEM240c.320T= (p.Met107=)
1g.1535642A>CCA337866560TMEM240c.320T>G (p.Met107Arg)
1g.1535642A>GCA337866566TMEM240c.320T>C (p.Met107Thr)
dbSNP gnomAD v2 gnomAD v4
1g.1535642A>TCA337866561TMEM240c.320T>A (p.Met107Lys)
1g.1535643T>ACA337866571TMEM240c.319A>T (p.Met107Leu)
1g.1535643T>CCA337866580TMEM240c.319A>G (p.Met107Val)
1g.1535643T>GCA337866574TMEM240c.319A>C (p.Met107Leu)
dbSNP gnomAD v4
1g.1535643T=CA1149192752TMEM240c.319A= (p.Met107=)
1g.1535644C>ACA337866584TMEM240c.318G>T (p.Trp106Cys)
1g.1535644C>GCA337866585TMEM240c.318G>C (p.Trp106Cys)
1g.1535644C>TCA337866587TMEM240c.318G>A (p.Trp106Ter)
gnomAD v4
1g.1535645C>ACA337866589TMEM240c.317G>T (p.Trp106Leu)
1g.1535645C>GCA337866592TMEM240c.317G>C (p.Trp106Ser)
1g.1535645C>TCA337866593TMEM240c.317G>A (p.Trp106Ter)
gnomAD v4
1g.1535646A>CCA337866600TMEM240c.316T>G (p.Trp106Gly)
1g.1535646A>GCA337866603TMEM240c.316T>C (p.Trp106Arg)
gnomAD v4
1g.1535646A>TCA337866608TMEM240c.316T>A (p.Trp106Arg)
1g.1535647C>ACA415768615TMEM240c.315G>T (p.Val105=)
1g.1535647C>GCA415768616TMEM240c.315G>C (p.Val105=)
1g.1535647C>TCA415768617TMEM240c.315G>A (p.Val105=)
1g.1535648A=CA1149192756TMEM240c.314T= (p.Val105=)
1g.1535648A>CCA337866614TMEM240c.314T>G (p.Val105Gly)
1g.1535648A>GCA337866611TMEM240c.314T>C (p.Val105Ala)
dbSNP
1g.1535648A>TCA337866609TMEM240c.314T>A (p.Val105Glu)
1g.1535649C>ACA16796897TMEM240c.313G>T (p.Val105Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535649C=CA1143921081TMEM240c.313G= (p.Val105=)
1g.1535649C>GCA337866623TMEM240c.313G>C (p.Val105Leu)
gnomAD v4
1g.1535649C>TCA337866624TMEM240c.313G>A (p.Val105Met)
dbSNP gnomAD v2 gnomAD v4
1g.1535650C>ACA415768621TMEM240c.312G>T (p.Leu104=)
1g.1535650C=CA1149192768TMEM240c.312G= (p.Leu104=)
1g.1535650C>GCA415768622TMEM240c.312G>C (p.Leu104=)
dbSNP gnomAD v3 gnomAD v4
1g.1535650C>TCA415768623TMEM240c.312G>A (p.Leu104=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535651A>CCA337866625TMEM240c.311T>G (p.Leu104Arg)
1g.1535651A>GCA337866627TMEM240c.311T>C (p.Leu104Pro)
1g.1535651A>TCA337866628TMEM240c.311T>A (p.Leu104Gln)
1g.1535652G>ACA415768627TMEM240c.310C>T (p.Leu104=)
1g.1535652G>CCA337866630TMEM240c.310C>G (p.Leu104Val)
1g.1535652G>TCA337866631TMEM240c.310C>A (p.Leu104Met)
gnomAD v4
1g.1535653G>ACA526683TMEM240c.309C>T (p.Phe103=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535653G>CCA337866632TMEM240c.309C>G (p.Phe103Leu)
1g.1535653G=CA1149192777TMEM240c.309C= (p.Phe103=)
1g.1535653G>TCA337866633TMEM240c.309C>A (p.Phe103Leu)
1g.1535654A>CCA337866635TMEM240c.308T>G (p.Phe103Cys)
1g.1535654A>GCA337866636TMEM240c.308T>C (p.Phe103Ser)
1g.1535654A>TCA337866634TMEM240c.308T>A (p.Phe103Tyr)
1g.1535655A>CCA337866638TMEM240c.307T>G (p.Phe103Val)
1g.1535655A>GCA337866640TMEM240c.307T>C (p.Phe103Leu)
gnomAD v4
1g.1535655A>TCA337866642TMEM240c.307T>A (p.Phe103Ile)
1g.1535656C>ACA337866644TMEM240c.306G>T (p.Trp102Cys)
gnomAD v4
1g.1535656C>GCA337866645TMEM240c.306G>C (p.Trp102Cys)
1g.1535656C>TCA337866647TMEM240c.306G>A (p.Trp102Ter)
1g.1535657C>ACA337866649TMEM240c.305G>T (p.Trp102Leu)
1g.1535657C>GCA337866650TMEM240c.305G>C (p.Trp102Ser)
1g.1535657C>TCA337866653TMEM240c.305G>A (p.Trp102Ter)
1g.1535658A>CCA337866655TMEM240c.304T>G (p.Trp102Gly)
1g.1535658A>GCA337866656TMEM240c.304T>C (p.Trp102Arg)
1g.1535658A>TCA337866658TMEM240c.304T>A (p.Trp102Arg)
1g.1535659G>ACA415768632TMEM240c.303C>T (p.Ser101=)
1g.1535659G>CCA337866661TMEM240c.303C>G (p.Ser101Arg)
1g.1535659G>TCA337866659TMEM240c.303C>A (p.Ser101Arg)
gnomAD v4
1g.1535660C>ACA337866665TMEM240c.302G>T (p.Ser101Ile)
1g.1535660C>GCA337866670TMEM240c.302G>C (p.Ser101Thr)
gnomAD v4
1g.1535660C>TCA337866672TMEM240c.302G>A (p.Ser101Asn)
1g.1535661T>ACA337866682TMEM240c.301A>T (p.Ser101Cys)
1g.1535661T>CCA337866693TMEM240c.301A>G (p.Ser101Gly)
1g.1535661T>GCA337866694TMEM240c.301A>C (p.Ser101Arg)
1g.1535662G>ACA415768633TMEM240c.300C>T (p.Ile100=)
1g.1535662G>CCA337866696TMEM240c.300C>G (p.Ile100Met)
1g.1535662G>TCA415768634TMEM240c.300C>A (p.Ile100=)
1g.1535663A>CCA337866698TMEM240c.299T>G (p.Ile100Ser)
1g.1535663A>GCA337866700TMEM240c.299T>C (p.Ile100Thr)
1g.1535663A>TCA337866705TMEM240c.299T>A (p.Ile100Asn)
1g.1535664T>ACA337866708TMEM240c.298A>T (p.Ile100Phe)
1g.1535664T>CCA337866711TMEM240c.298A>G (p.Ile100Val)
1g.1535664T>GCA337866713TMEM240c.298A>C (p.Ile100Leu)
1g.1535665G>ACA415768635TMEM240c.297C>T (p.Cys99=)
1g.1535665G>CCA337866719TMEM240c.297C>G (p.Cys99Trp)
1g.1535665G>TCA337866716TMEM240c.297C>A (p.Cys99Ter)
1g.1535666C>ACA526684TMEM240c.296G>T (p.Cys99Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535666C=CA1144122583TMEM240c.296G= (p.Cys99=)
1g.1535666C>GCA337866730TMEM240c.296G>C (p.Cys99Ser)
dbSNP gnomAD v2 gnomAD v4
1g.1535666C>TCA337866727TMEM240c.296G>A (p.Cys99Tyr)
gnomAD v4
1g.1535667A>CCA337866732TMEM240c.295T>G (p.Cys99Gly)
1g.1535667A>GCA337866733TMEM240c.295T>C (p.Cys99Arg)
1g.1535667A>TCA337866734TMEM240c.295T>A (p.Cys99Ser)
1g.1535670delCA415768636TMEM240c.295del (p.Cys99AlafsTer?)
gnomAD v4
1g.1535668A>CCA337866735TMEM240c.294T>G (p.Phe98Leu)
1g.1535668A>GCA415768637TMEM240c.294T>C (p.Phe98=)
1g.1535668A>TCA337866736TMEM240c.294T>A (p.Phe98Leu)
1g.1535669A=CA1149192783TMEM240c.293T= (p.Phe98=)
1g.1535669A>CCA337866739TMEM240c.293T>G (p.Phe98Cys)
1g.1535669A>GCA337866740TMEM240c.293T>C (p.Phe98Ser)
dbSNP
1g.1535669A>TCA337866741TMEM240c.293T>A (p.Phe98Tyr)
1g.1535670A>CCA337866743TMEM240c.292T>G (p.Phe98Val)
1g.1535670A>GCA337866745TMEM240c.292T>C (p.Phe98Leu)
1g.1535670A>TCA337866756TMEM240c.292T>A (p.Phe98Ile)
1g.1535671G>ACA415768638TMEM240c.291C>T (p.Gly97=)
dbSNP gnomAD v3 gnomAD v4
1g.1535671G>CCA16796898TMEM240c.291C>G (p.Gly97=)
dbSNP
1g.1535671G=CA1149192786TMEM240c.291C= (p.Gly97=)
1g.1535671G>TCA415768639TMEM240c.291C>A (p.Gly97=)
1g.1535672C>ACA337866762TMEM240c.290G>T (p.Gly97Val)
1g.1535672C>GCA337866760TMEM240c.290G>C (p.Gly97Ala)
1g.1535672C>TCA337866759TMEM240c.290G>A (p.Gly97Asp)
1g.1535673C>ACA337866764TMEM240c.289G>T (p.Gly97Cys)
1g.1535673C=CA1149192795TMEM240c.289G= (p.Gly97=)
1g.1535673C>GCA337866765TMEM240c.289G>C (p.Gly97Arg)
1g.1535673C>TCA16796901TMEM240c.289G>A (p.Gly97Ser)
dbSNP gnomAD v3 gnomAD v4
1g.1535674C>ACA415768640TMEM240c.288G>T (p.Leu96=)
1g.1535674C=CA1149192803TMEM240c.288G= (p.Leu96=)
1g.1535674C>GCA415768641TMEM240c.288G>C (p.Leu96=)
1g.1535674C>TCA526685TMEM240c.288G>A (p.Leu96=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535675A>CCA337866770TMEM240c.287T>G (p.Leu96Arg)
1g.1535675A>GCA337866772TMEM240c.287T>C (p.Leu96Pro)
1g.1535675A>TCA337866773TMEM240c.287T>A (p.Leu96Gln)
1g.1535676G>ACA415768642TMEM240c.286C>T (p.Leu96=)
COSMIC
1g.1535676G>CCA337866775TMEM240c.286C>G (p.Leu96Val)
1g.1535676G>TCA337866777TMEM240c.286C>A (p.Leu96Met)
1g.1535676_1535680delCA645511464TMEM240c.282_286del (p.Leu95GlyfsTer?)
COSMIC
1g.1535677C>ACA415768644TMEM240c.285G>T (p.Leu95=)
dbSNP
1g.1535677C=CA1149192809TMEM240c.285G= (p.Leu95=)
1g.1535677C>GCA415768645TMEM240c.285G>C (p.Leu95=)
1g.1535677C>TCA415768643TMEM240c.285G>A (p.Leu95=)
1g.1535678A>CCA337866778TMEM240c.284T>G (p.Leu95Arg)
1g.1535678A>GCA337866779TMEM240c.284T>C (p.Leu95Pro)
1g.1535678A>TCA337866781TMEM240c.284T>A (p.Leu95Gln)
1g.1535679G>ACA415768646TMEM240c.283C>T (p.Leu95=)
gnomAD v4
1g.1535679G>CCA337866785TMEM240c.283C>G (p.Leu95Val)
1g.1535679G>TCA337866788TMEM240c.283C>A (p.Leu95Met)
1g.1535680C>ACA415768647TMEM240c.282G>T (p.Leu94=)
1g.1535680C>GCA415768648TMEM240c.282G>C (p.Leu94=)
1g.1535680C>TCA415768649TMEM240c.282G>A (p.Leu94=)
1g.1535681A>CCA337866790TMEM240c.281T>G (p.Leu94Arg)
1g.1535681A>GCA337866792TMEM240c.281T>C (p.Leu94Pro)
1g.1535681A>TCA337866797TMEM240c.281T>A (p.Leu94Gln)
1g.1535682G>ACA415768650TMEM240c.280C>T (p.Leu94=)
1g.1535682G>CCA337866799TMEM240c.280C>G (p.Leu94Val)
1g.1535682G=CA1149192814TMEM240c.280C= (p.Leu94=)
1g.1535682G>TCA337866801TMEM240c.280C>A (p.Leu94Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535683C>ACA415768651TMEM240c.279G>T (p.Gly93=)
dbSNP
1g.1535683C=CA1149192820TMEM240c.279G= (p.Gly93=)
1g.1535683C>GCA415768653TMEM240c.279G>C (p.Gly93=)
1g.1535683C>TCA415768652TMEM240c.279G>A (p.Gly93=)
1g.1535684C>ACA337866803TMEM240c.278G>T (p.Gly93Val)
1g.1535684C>GCA337866804TMEM240c.278G>C (p.Gly93Ala)
1g.1535684C>TCA337866807TMEM240c.278G>A (p.Gly93Glu)
1g.1535685C>ACA337866809TMEM240c.277G>T (p.Gly93Trp)
gnomAD v4
1g.1535685C>GCA337866811TMEM240c.277G>C (p.Gly93Arg)
1g.1535685C>TCA337866814TMEM240c.277G>A (p.Gly93Arg)
1g.1535686C>ACA415768654TMEM240c.276G>T (p.Leu92=)
1g.1535686C>GCA415768655TMEM240c.276G>C (p.Leu92=)
1g.1535686C>TCA415768656TMEM240c.276G>A (p.Leu92=)
gnomAD v4
1g.1535687A>CCA337866817TMEM240c.275T>G (p.Leu92Arg)
1g.1535687A>GCA337866819TMEM240c.275T>C (p.Leu92Pro)
1g.1535687A>TCA337866822TMEM240c.275T>A (p.Leu92Gln)
1g.1535688G>ACA415768657TMEM240c.274C>T (p.Leu92=)
1g.1535688G>CCA337866823TMEM240c.274C>G (p.Leu92Val)
1g.1535688G>TCA337866824TMEM240c.274C>A (p.Leu92Met)
1g.1535689C>ACA337866827TMEM240c.273G>T (p.Met91Ile)
1g.1535689C>GCA337866828TMEM240c.273G>C (p.Met91Ile)
1g.1535689C>TCA337866831TMEM240c.273G>A (p.Met91Ile)
gnomAD v4
1g.1535690A=CA1149192827TMEM240c.272T= (p.Met91=)
1g.1535690A>CCA337866832TMEM240c.272T>G (p.Met91Arg)
1g.1535690A>GCA337866835TMEM240c.272T>C (p.Met91Thr)
dbSNP gnomAD v3 gnomAD v4
1g.1535690A>TCA337866838TMEM240c.272T>A (p.Met91Lys)
1g.1535691T>ACA337866842TMEM240c.271A>T (p.Met91Leu)
1g.1535691T>CCA337866844TMEM240c.271A>G (p.Met91Val)
1g.1535691T>GCA337866845TMEM240c.271A>C (p.Met91Leu)
gnomAD v4
1g.1535692G>ACA415768660TMEM240c.270C>T (p.Leu90=)
1g.1535692G>CCA415768658TMEM240c.270C>G (p.Leu90=)
1g.1535692G>TCA415768659TMEM240c.270C>A (p.Leu90=)
1g.1535693A>CCA337866848TMEM240c.269T>G (p.Leu90Arg)
1g.1535693A>GCA337866849TMEM240c.269T>C (p.Leu90Pro)
gnomAD v4
1g.1535693A>TCA337866850TMEM240c.269T>A (p.Leu90His)
1g.1535694G>ACA337866852TMEM240c.268C>T (p.Leu90Phe)
gnomAD v4
1g.1535694G>CCA337866853TMEM240c.268C>G (p.Leu90Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535694G=CA1149192834TMEM240c.268C= (p.Leu90=)
1g.1535694G>TCA337866851TMEM240c.268C>A (p.Leu90Ile)
1g.1535695G>ACA415768661TMEM240c.267C>T (p.Asp89=)
gnomAD v4
1g.1535695G>CCA337866856TMEM240c.267C>G (p.Asp89Glu)
1g.1535695G>TCA337866855TMEM240c.267C>A (p.Asp89Glu)
1g.1535696T>ACA337866863TMEM240c.266A>T (p.Asp89Val)
1g.1535696T>CCA337866859TMEM240c.266A>G (p.Asp89Gly)
gnomAD v4
1g.1535696T>GCA337866861TMEM240c.266A>C (p.Asp89Ala)
1g.1535697C>ACA337866865TMEM240c.265G>T (p.Asp89Tyr)
1g.1535697C=CA1149192837TMEM240c.265G= (p.Asp89=)
1g.1535697C>GCA337866867TMEM240c.265G>C (p.Asp89His)
1g.1535697C>TCA526686TMEM240c.265G>A (p.Asp89Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535698G>ACA526687TMEM240c.264C>T (p.Ile88=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535698G>CCA337866871TMEM240c.264C>G (p.Ile88Met)
gnomAD v4
1g.1535698G=CA1149192843TMEM240c.264C= (p.Ile88=)
1g.1535698G>TCA16796931TMEM240c.264C>A (p.Ile88=)
dbSNP gnomAD v4
1g.1535699A>CCA337866875TMEM240c.263T>G (p.Ile88Ser)
1g.1535699A>GCA337866877TMEM240c.263T>C (p.Ile88Thr)
1g.1535699A>TCA337866880TMEM240c.263T>A (p.Ile88Asn)
1g.1535700T>ACA337866883TMEM240c.262A>T (p.Ile88Phe)
1g.1535700T>CCA337866885TMEM240c.262A>G (p.Ile88Val)
1g.1535700T>GCA337866886TMEM240c.262A>C (p.Ile88Leu)
1g.1535700_1535703delinsTCTCCA1149192859TMEM240c.259_262delinsGAGA (p.Glu87=)
1g.1535701C>ACA337866891TMEM240c.261G>T (p.Glu87Asp)
gnomAD v4
1g.1535701C>GCA337866888TMEM240c.261G>C (p.Glu87Asp)
1g.1535701C>TCA415768662TMEM240c.261G>A (p.Glu87=)
1g.1535703_1535705delCA526688TMEM240c.259_261del (p.Glu87del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535702T>ACA337866893TMEM240c.260A>T (p.Glu87Val)
1g.1535702T>CCA337866894TMEM240c.260A>G (p.Glu87Gly)
1g.1535702T>GCA337866896TMEM240c.260A>C (p.Glu87Ala)
1g.1535703C>ACA337866900TMEM240c.259G>T (p.Glu87Ter)
1g.1535703C=CA1149192865TMEM240c.259G= (p.Glu87=)
1g.1535703C>GCA337866902TMEM240c.259G>C (p.Glu87Gln)
1g.1535703C>TCA337866903TMEM240c.259G>A (p.Glu87Lys)
dbSNP gnomAD v2 gnomAD v4
1g.1535704C>ACA337866905TMEM240c.258G>T (p.Gln86His)
1g.1535704C=CA1149192869TMEM240c.258G= (p.Gln86=)
1g.1535704C>GCA337866907TMEM240c.258G>C (p.Gln86His)
1g.1535704C>TCA415768663TMEM240c.258G>A (p.Gln86=)
dbSNP gnomAD v3 gnomAD v4
1g.1535705T>ACA337866908TMEM240c.257A>T (p.Gln86Leu)
1g.1535705T>CCA337866910TMEM240c.257A>G (p.Gln86Arg)
gnomAD v4
1g.1535705T>GCA337866911TMEM240c.257A>C (p.Gln86Pro)
1g.1535706G>ACA337866917TMEM240c.256C>T (p.Gln86Ter)
1g.1535706G>CCA337866915TMEM240c.256C>G (p.Gln86Glu)
1g.1535706G>TCA337866914TMEM240c.256C>A (p.Gln86Lys)
1g.1535707C>ACA337866919TMEM240c.255G>T (p.Lys85Asn)
1g.1535707C=CA1149192874TMEM240c.255G= (p.Lys85=)
1g.1535707C>GCA337866920TMEM240c.255G>C (p.Lys85Asn)
1g.1535707C>TCA415768664TMEM240c.255G>A (p.Lys85=)
dbSNP gnomAD v2 gnomAD v4
1g.1535708T>ACA337866923TMEM240c.254A>T (p.Lys85Met)
1g.1535708T>CCA337866924TMEM240c.254A>G (p.Lys85Arg)
1g.1535708T>GCA337866927TMEM240c.254A>C (p.Lys85Thr)
1g.1535708T=CA1149192879TMEM240c.254A= (p.Lys85=)
1g.1535708_1535709insGGGGCTGCTGCCA916089823TMEM240c.253_254insGCAGCAGCCCC (p.Lys85SerfsTer?)
dbSNP
1g.1535709T>ACA337866932TMEM240c.253A>T (p.Lys85Ter)
1g.1535709T>CCA337866930TMEM240c.253A>G (p.Lys85Glu)
1g.1535709T>GCA337866929TMEM240c.253A>C (p.Lys85Gln)
1g.1535710G>ACA415768665TMEM240c.252C>T (p.Thr84=)
gnomAD v4
1g.1535710G>CCA415768666TMEM240c.252C>G (p.Thr84=)
dbSNP gnomAD v3 gnomAD v4
1g.1535710G=CA1149192891TMEM240c.252C= (p.Thr84=)
1g.1535710G>TCA415768667TMEM240c.252C>A (p.Thr84=)
1g.1535711G>ACA337866935TMEM240c.251C>T (p.Thr84Ile)
1g.1535711G>CCA337866938TMEM240c.251C>G (p.Thr84Ser)
1g.1535711G=CA1149192895TMEM240c.251C= (p.Thr84=)
1g.1535711G>TCA337866939TMEM240c.251C>A (p.Thr84Asn)
1g.1535711_1535712insGCCA916089824TMEM240c.250_251insGC (p.Thr84SerfsTer?)
dbSNP
1g.1535712T>ACA337866942TMEM240c.250A>T (p.Thr84Ser)
1g.1535712T>CCA337866944TMEM240c.250A>G (p.Thr84Ala)
1g.1535712T>GCA337866946TMEM240c.250A>C (p.Thr84Pro)
1g.1535712T=CA1149192896TMEM240c.250A= (p.Thr84=)
1g.1535712_1535713insTTTGCA916089825TMEM240c.249_250insCAAA (p.Thr84GlnfsTer?)
dbSNP
1g.1535713C>ACA415768668TMEM240c.249G>T (p.Val83=)
1g.1535713C=CA1149192900TMEM240c.249G= (p.Val83=)
1g.1535713C>GCA415768669TMEM240c.249G>C (p.Val83=)
1g.1535713C>TCA415768670TMEM240c.249G>A (p.Val83=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535714A=CA1149192903TMEM240c.248T= (p.Val83=)
1g.1535714A>CCA337866948TMEM240c.248T>G (p.Val83Gly)
1g.1535714A>GCA16796932TMEM240c.248T>C (p.Val83Ala)
dbSNP gnomAD v4
1g.1535714A>TCA337866950TMEM240c.248T>A (p.Val83Glu)
1g.1535715C>ACA337866951TMEM240c.247G>T (p.Val83Leu)
1g.1535715C>GCA337866952TMEM240c.247G>C (p.Val83Leu)
1g.1535715C>TCA337866953TMEM240c.247G>A (p.Val83Met)
gnomAD v4
1g.1535716A=CA1149192910TMEM240c.246T= (p.Ser82=)
1g.1535716A>CCA337866954TMEM240c.246T>G (p.Ser82Arg)
1g.1535716A>GCA415768671TMEM240c.246T>C (p.Ser82=)
dbSNP gnomAD v3 gnomAD v4
1g.1535716A>TCA337866955TMEM240c.246T>A (p.Ser82Arg)
gnomAD v4
1g.1535717C>ACA337866956TMEM240c.245G>T (p.Ser82Ile)
1g.1535717C=CA1149192920TMEM240c.245G= (p.Ser82=)
1g.1535717C>GCA337866957TMEM240c.245G>C (p.Ser82Thr)
1g.1535717C>TCA337866958TMEM240c.245G>A (p.Ser82Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535718T>ACA337866959TMEM240c.244A>T (p.Ser82Cys)
1g.1535718T>CCA16796934TMEM240c.244A>G (p.Ser82Gly)
dbSNP gnomAD v4
1g.1535718T>GCA337866960TMEM240c.244A>C (p.Ser82Arg)
1g.1535718T=CA1149192926TMEM240c.244A= (p.Ser82=)
1g.1535719_1535720delCA2642615645TMEM240c.243_244del (p.Asp81GlufsTer?)
gnomAD v4
1g.1535719G>ACA415768672TMEM240c.243C>T (p.Asp81=)
gnomAD v4
1g.1535719G>CCA337866962TMEM240c.243C>G (p.Asp81Glu)
1g.1535719G>TCA337866961TMEM240c.243C>A (p.Asp81Glu)
1g.1535720T>ACA337866963TMEM240c.242A>T (p.Asp81Val)
1g.1535720T>CCA337866965TMEM240c.242A>G (p.Asp81Gly)
1g.1535720T>GCA337866964TMEM240c.242A>C (p.Asp81Ala)
1g.1535721C>ACA337866966TMEM240c.241G>T (p.Asp81Tyr)
1g.1535721C>GCA337866967TMEM240c.241G>C (p.Asp81His)
1g.1535721C>TCA337866968TMEM240c.241G>A (p.Asp81Asn)
1g.1535722C>ACA526690TMEM240c.240G>T (p.Thr80=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535722C=CA1143766880TMEM240c.240G= (p.Thr80=)
1g.1535722C>GCA415768673TMEM240c.240G>C (p.Thr80=)
1g.1535722C>TCA526689TMEM240c.240G>A (p.Thr80=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535723G>ACA272848TMEM240c.239C>T (p.Thr80Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535723G>CCA337866970TMEM240c.239C>G (p.Thr80Arg)
1g.1535723G=CA1148224147TMEM240c.239C= (p.Thr80=)
1g.1535723G>TCA337866969TMEM240c.239C>A (p.Thr80Lys)
dbSNP gnomAD v3 gnomAD v4
1g.1535724T>ACA337866971TMEM240c.238A>T (p.Thr80Ser)
1g.1535724T>CCA337866972TMEM240c.238A>G (p.Thr80Ala)
1g.1535724T>GCA337866974TMEM240c.238A>C (p.Thr80Pro)
1g.1535725C>ACA415768674TMEM240c.237G>T (p.Val79=)
gnomAD v4
1g.1535725C>GCA415768675TMEM240c.237G>C (p.Val79=)
1g.1535725C>TCA415768676TMEM240c.237G>A (p.Val79=)
1g.1535726A>CCA337866984TMEM240c.236T>G (p.Val79Gly)
1g.1535726A>GCA337866985TMEM240c.236T>C (p.Val79Ala)
1g.1535726A>TCA337866987TMEM240c.236T>A (p.Val79Glu)
1g.1535727C>ACA337866989TMEM240c.235G>T (p.Val79Leu)
1g.1535727C=CA1149192942TMEM240c.235G= (p.Val79=)
1g.1535727C>GCA337866991TMEM240c.235G>C (p.Val79Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535727C>TCA337866990TMEM240c.235G>A (p.Val79Met)
gnomAD v4
1g.1535728A=CA1149192950TMEM240c.234T= (p.Phe78=)
1g.1535728A>CCA337866992TMEM240c.234T>G (p.Phe78Leu)
1g.1535728A>GCA415768677TMEM240c.234T>C (p.Phe78=)
dbSNP gnomAD v2
1g.1535728A>TCA337866993TMEM240c.234T>A (p.Phe78Leu)
1g.1535729A=CA1149192956TMEM240c.233T= (p.Phe78=)
1g.1535729A>CCA337866994TMEM240c.233T>G (p.Phe78Cys)
1g.1535729A>GCA337866995TMEM240c.233T>C (p.Phe78Ser)
dbSNP
1g.1535729A>TCA337866997TMEM240c.233T>A (p.Phe78Tyr)
1g.1535729_1535732delinsAAGTCA1149192960TMEM240c.230_233delinsACTT (p.Tyr77=)

Number of alleles fetched