Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
1g.1535730A>CCA337866999TMEM240c.232T>G (p.Phe78Val)
1g.1535730A>GCA337867001TMEM240c.232T>C (p.Phe78Leu)
1g.1535730A>TCA337867004TMEM240c.232T>A (p.Phe78Ile)
1g.1535733_1535735delCA1149192968TMEM240c.230_232del (p.Tyr77del)
dbSNP
1g.1535731G>ACA415768678TMEM240c.231C>T (p.Tyr77=)
1g.1535731G>CCA337867007TMEM240c.231C>G (p.Tyr77Ter)
1g.1535731G>TCA337867011TMEM240c.231C>A (p.Tyr77Ter)
1g.1535732T>ACA337867021TMEM240c.230A>T (p.Tyr77Phe)
1g.1535732T>CCA337867019TMEM240c.230A>G (p.Tyr77Cys)
1g.1535732T>GCA337867014TMEM240c.230A>C (p.Tyr77Ser)
1g.1535733A=CA1149192978TMEM240c.229T= (p.Tyr77=)
1g.1535733A>CCA337867024TMEM240c.229T>G (p.Tyr77Asp)
1g.1535733A>GCA337867026TMEM240c.229T>C (p.Tyr77His)
dbSNP gnomAD v3 gnomAD v4
1g.1535733A>TCA337867027TMEM240c.229T>A (p.Tyr77Asn)
1g.1535734G>ACA526691TMEM240c.228C>T (p.Asn76=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535734G>CCA337867033TMEM240c.228C>G (p.Asn76Lys)
1g.1535734G=CA1144597874TMEM240c.228C= (p.Asn76=)
1g.1535734G>TCA337867036TMEM240c.228C>A (p.Asn76Lys)
1g.1535735T>ACA337867043TMEM240c.227A>T (p.Asn76Ile)
1g.1535735T>CCA337867038TMEM240c.227A>G (p.Asn76Ser)
1g.1535735T>GCA337867040TMEM240c.227A>C (p.Asn76Thr)
1g.1535736T>ACA337867048TMEM240c.226A>T (p.Asn76Tyr)
1g.1535736T>CCA337867050TMEM240c.226A>G (p.Asn76Asp)
1g.1535736T>GCA337867052TMEM240c.226A>C (p.Asn76His)
1g.1535737C>ACA337867054TMEM240c.225G>T (p.Glu75Asp)
gnomAD v4
1g.1535737C>GCA337867057TMEM240c.225G>C (p.Glu75Asp)
1g.1535737C>TCA415768679TMEM240c.225G>A (p.Glu75=)
gnomAD v4 COSMIC
1g.1535738T>ACA337867060TMEM240c.224A>T (p.Glu75Val)
1g.1535738T>CCA337867063TMEM240c.224A>G (p.Glu75Gly)
1g.1535738T>GCA337867061TMEM240c.224A>C (p.Glu75Ala)
1g.1535739C>ACA337867066TMEM240c.223G>T (p.Glu75Ter)
1g.1535739C=CA1149192988TMEM240c.223G= (p.Glu75=)
1g.1535739C>GCA337867069TMEM240c.223G>C (p.Glu75Gln)
1g.1535739C>TCA526692TMEM240c.223G>A (p.Glu75Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535740G>ACA16796956TMEM240c.222C>T (p.Ser74=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535740G>CCA415768680TMEM240c.222C>G (p.Ser74=)
dbSNP gnomAD v2 gnomAD v4
1g.1535740G=CA1149192995TMEM240c.222C= (p.Ser74=)
1g.1535740G>TCA415768681TMEM240c.222C>A (p.Ser74=)
1g.1535741G>ACA337867071TMEM240c.221C>T (p.Ser74Phe)
1g.1535741G>CCA337867074TMEM240c.221C>G (p.Ser74Cys)
1g.1535741G>TCA337867076TMEM240c.221C>A (p.Ser74Tyr)
1g.1535742A>CCA337867077TMEM240c.220T>G (p.Ser74Ala)
1g.1535742A>GCA337867078TMEM240c.220T>C (p.Ser74Pro)
1g.1535742A>TCA337867079TMEM240c.220T>A (p.Ser74Thr)
1g.1535743G>ACA415768682TMEM240c.219C>T (p.Ala73=)
gnomAD v4
1g.1535743G>CCA415768683TMEM240c.219C>G (p.Ala73=)
1g.1535743G>TCA415768684TMEM240c.219C>A (p.Ala73=)
1g.1535744G>ACA337867081TMEM240c.218C>T (p.Ala73Val)
1g.1535744G>CCA337867084TMEM240c.218C>G (p.Ala73Gly)
1g.1535744G=CA1149192999TMEM240c.218C= (p.Ala73=)
1g.1535744G>TCA16796961TMEM240c.218C>A (p.Ala73Asp)
dbSNP gnomAD v4
1g.1535745C>ACA337867086TMEM240c.217G>T (p.Ala73Ser)
gnomAD v4
1g.1535745C=CA1149193001TMEM240c.217G= (p.Ala73=)
1g.1535745C>GCA337867088TMEM240c.217G>C (p.Ala73Pro)
1g.1535745C>TCA526693TMEM240c.217G>A (p.Ala73Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535746G>ACA526694TMEM240c.216C>T (p.Asp72=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535746G>CCA337867090TMEM240c.216C>G (p.Asp72Glu)
1g.1535746G=CA1141380601TMEM240c.216C= (p.Asp72=)
1g.1535746G>TCA337867093TMEM240c.216C>A (p.Asp72Glu)
1g.1535747T>ACA337867094TMEM240c.215A>T (p.Asp72Val)
1g.1535747T>CCA337867096TMEM240c.215A>G (p.Asp72Gly)
dbSNP
1g.1535747T>GCA337867099TMEM240c.215A>C (p.Asp72Ala)
gnomAD v4
1g.1535748C>ACA337867101TMEM240c.214G>T (p.Asp72Tyr)
1g.1535748C>GCA337867103TMEM240c.214G>C (p.Asp72His)
1g.1535748C>TCA337867105TMEM240c.214G>A (p.Asp72Asn)
1g.1535749C>ACA415768287TMEM240c.213G>T (p.Val71=)
1g.1535749C=CA1149193011TMEM240c.213G= (p.Val71=)
1g.1535749C>GCA415768292TMEM240c.213G>C (p.Val71=)
1g.1535749C>TCA526695TMEM240c.213G>A (p.Val71=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.1535750A=CA1149193015TMEM240c.212T= (p.Val71=)
1g.1535750A>CCA337867107TMEM240c.212T>G (p.Val71Gly)
1g.1535750A>GCA337867108TMEM240c.212T>C (p.Val71Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535750A>TCA337867110TMEM240c.212T>A (p.Val71Glu)
1g.1535751C>ACA337867111TMEM240c.211G>T (p.Val71Leu)
1g.1535751C=CA1149193025TMEM240c.211G= (p.Val71=)
1g.1535751C>GCA337867113TMEM240c.211G>C (p.Val71Leu)
1g.1535751C>TCA16796979TMEM240c.211G>A (p.Val71Met)
dbSNP gnomAD v4
1g.1535752C>ACA415768305TMEM240c.210G>T (p.Val70=)
1g.1535752C>GCA415768306TMEM240c.210G>C (p.Val70=)
1g.1535752C>TCA415768308TMEM240c.210G>A (p.Val70=)
1g.1535753A>CCA337867125TMEM240c.209T>G (p.Val70Gly)
1g.1535753A>GCA337867119TMEM240c.209T>C (p.Val70Ala)
gnomAD v4
1g.1535753A>TCA337867123TMEM240c.209T>A (p.Val70Glu)
1g.1535754C>ACA337867127TMEM240c.208G>T (p.Val70Leu)
dbSNP
1g.1535754C=CA1149193033TMEM240c.208G= (p.Val70=)
1g.1535754C>GCA337867130TMEM240c.208G>C (p.Val70Leu)
1g.1535754C>TCA16796983TMEM240c.208G>A (p.Val70Met)
dbSNP gnomAD v2 gnomAD v4
1g.1535755C>ACA415768313TMEM240c.207G>T (p.Ser69=)
1g.1535755C=CA1143719420TMEM240c.207G= (p.Ser69=)
1g.1535755C>GCA415768315TMEM240c.207G>C (p.Ser69=)
1g.1535755C>TCA526696TMEM240c.207G>A (p.Ser69=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535757_1535770delCA2642615646TMEM240c.194_207del (p.Asp65GlyfsTer?)
gnomAD v4
1g.1535756G>ACA337867135TMEM240c.206C>T (p.Ser69Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1535756G>CCA337867136TMEM240c.206C>G (p.Ser69Trp)
1g.1535756G=CA1149193042TMEM240c.206C= (p.Ser69=)
1g.1535756G>TCA337867137TMEM240c.206C>A (p.Ser69Ter)
1g.1535757A>CCA337867138TMEM240c.205T>G (p.Ser69Ala)
1g.1535757A>GCA337867139TMEM240c.205T>C (p.Ser69Pro)
1g.1535757A>TCA337867141TMEM240c.205T>A (p.Ser69Thr)
1g.1535758C>ACA337867142TMEM240c.204G>T (p.Gln68His)
1g.1535758C=CA1149193051TMEM240c.204G= (p.Gln68=)
1g.1535758C>GCA337867146TMEM240c.204G>C (p.Gln68His)
1g.1535758C>TCA415768324TMEM240c.204G>A (p.Gln68=)
dbSNP gnomAD v2 gnomAD v4
1g.1535759T>ACA337867152TMEM240c.203A>T (p.Gln68Leu)
1g.1535759T>CCA337867150TMEM240c.203A>G (p.Gln68Arg)
1g.1535759T>GCA337867148TMEM240c.203A>C (p.Gln68Pro)
1g.1535760G>ACA337867166TMEM240c.202C>T (p.Gln68Ter)
dbSNP gnomAD v2 gnomAD v4
1g.1535760G>CCA337867155TMEM240c.202C>G (p.Gln68Glu)
1g.1535760G=CA1149193054TMEM240c.202C= (p.Gln68=)
1g.1535760G>TCA337867157TMEM240c.202C>A (p.Gln68Lys)
1g.1535761G>ACA415768329TMEM240c.201C>T (p.Asp67=)
1g.1535761G>CCA337867168TMEM240c.201C>G (p.Asp67Glu)
gnomAD v4
1g.1535761G>TCA337867170TMEM240c.201C>A (p.Asp67Glu)
1g.1535762T>ACA337867173TMEM240c.200A>T (p.Asp67Val)
1g.1535762T>CCA337867176TMEM240c.200A>G (p.Asp67Gly)
dbSNP gnomAD v3 gnomAD v4
1g.1535762T>GCA337867181TMEM240c.200A>C (p.Asp67Ala)
1g.1535762T=CA1149193062TMEM240c.200A= (p.Asp67=)
1g.1535763C>ACA337867183TMEM240c.199G>T (p.Asp67Tyr)
1g.1535763C=CA1149193068TMEM240c.199G= (p.Asp67=)
1g.1535763C>GCA337867187TMEM240c.199G>C (p.Asp67His)
1g.1535763C>TCA337867189TMEM240c.199G>A (p.Asp67Asn)
dbSNP gnomAD v2 gnomAD v4
1g.1535766dupCA521010115TMEM240c.199dup (p.Asp67GlyfsTer?)
dbSNP gnomAD v2 gnomAD v4
1g.1535764C>ACA415768338TMEM240c.198G>T (p.Gly66=)
gnomAD v4
1g.1535764C>GCA415768340TMEM240c.198G>C (p.Gly66=)
1g.1535764C>TCA415768339TMEM240c.198G>A (p.Gly66=)
dbSNP gnomAD v4
1g.1535765C>ACA337867192TMEM240c.197G>T (p.Gly66Val)
1g.1535765C>GCA337867195TMEM240c.197G>C (p.Gly66Ala)
1g.1535765C>TCA337867197TMEM240c.197G>A (p.Gly66Glu)
1g.1535766C>ACA337867204TMEM240c.196G>T (p.Gly66Trp)
gnomAD v4 COSMIC
1g.1535766C=CA1149193076TMEM240c.196G= (p.Gly66=)
1g.1535766C>GCA337867206TMEM240c.196G>C (p.Gly66Arg)
gnomAD v4
1g.1535766C>TCA16042311TMEM240c.196G>A (p.Gly66Arg)
ClinVar dbSNP
1g.1535767G>ACA526697TMEM240c.195C>T (p.Asp65=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535767G>CCA337867210TMEM240c.195C>G (p.Asp65Glu)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.1535767G=CA1148885396TMEM240c.195C= (p.Asp65=)
1g.1535767G>TCA337867212TMEM240c.195C>A (p.Asp65Glu)
gnomAD v4
1g.1535768T>ACA337867214TMEM240c.194A>T (p.Asp65Val)
1g.1535768T>CCA337867216TMEM240c.194A>G (p.Asp65Gly)
1g.1535768T>GCA337867218TMEM240c.194A>C (p.Asp65Ala)
1g.1535769C>ACA337867220TMEM240c.193G>T (p.Asp65Tyr)
1g.1535769C=CA1149193081TMEM240c.193G= (p.Asp65=)
1g.1535769C>GCA337867223TMEM240c.193G>C (p.Asp65His)
gnomAD v4
1g.1535769C>TCA16796985TMEM240c.193G>A (p.Asp65Asn)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535770G>ACA415768349TMEM240c.192C>T (p.Tyr64=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535770G>CCA337867226TMEM240c.192C>G (p.Tyr64Ter)
1g.1535770G=CA1149193086TMEM240c.192C= (p.Tyr64=)
1g.1535770G>TCA337867228TMEM240c.192C>A (p.Tyr64Ter)
gnomAD v4
1g.1535771T>ACA337867231TMEM240c.191A>T (p.Tyr64Phe)
1g.1535771T>CCA337867233TMEM240c.191A>G (p.Tyr64Cys)
1g.1535771T>GCA337867234TMEM240c.191A>C (p.Tyr64Ser)
1g.1535772A>CCA337867236TMEM240c.190T>G (p.Tyr64Asp)
1g.1535772A>GCA337867238TMEM240c.190T>C (p.Tyr64His)
1g.1535772A>TCA337867235TMEM240c.190T>A (p.Tyr64Asn)
1g.1535773C>ACA415768360TMEM240c.189G>T (p.Pro63=)
dbSNP gnomAD v2 gnomAD v4
1g.1535773C=CA1145061997TMEM240c.189G= (p.Pro63=)
1g.1535773C>GCA415768356TMEM240c.189G>C (p.Pro63=)
1g.1535773C>TCA526698TMEM240c.189G>A (p.Pro63=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535774G>ACA337867243TMEM240c.188C>T (p.Pro63Leu)
gnomAD v4
1g.1535774G>CCA337867240TMEM240c.188C>G (p.Pro63Arg)
1g.1535774G>TCA337867242TMEM240c.188C>A (p.Pro63Gln)
gnomAD v4
1g.1535775G>ACA337867244TMEM240c.187C>T (p.Pro63Ser)
gnomAD v4
1g.1535775G>CCA337867245TMEM240c.187C>G (p.Pro63Ala)
1g.1535775G>TCA337867247TMEM240c.187C>A (p.Pro63Thr)
1g.1535776G>ACA415768367TMEM240c.186C>T (p.Ile62=)
1g.1535776G>CCA337867248TMEM240c.186C>G (p.Ile62Met)
1g.1535776G>TCA415768368TMEM240c.186C>A (p.Ile62=)
gnomAD v4
1g.1535777A>CCA337867250TMEM240c.185T>G (p.Ile62Ser)
1g.1535777A>GCA337867252TMEM240c.185T>C (p.Ile62Thr)
1g.1535777A>TCA337867254TMEM240c.185T>A (p.Ile62Asn)
1g.1535778T>ACA337867255TMEM240c.184A>T (p.Ile62Phe)
1g.1535778T>CCA337867256TMEM240c.184A>G (p.Ile62Val)
1g.1535778T>GCA337867257TMEM240c.184A>C (p.Ile62Leu)
1g.1535779C>ACA415768375TMEM240c.183G>T (p.Val61=)
1g.1535779C>GCA415768377TMEM240c.183G>C (p.Val61=)
1g.1535779C>TCA415768379TMEM240c.183G>A (p.Val61=)
1g.1535780A>CCA337867261TMEM240c.182T>G (p.Val61Gly)
1g.1535780A>GCA337867259TMEM240c.182T>C (p.Val61Ala)
1g.1535780A>TCA337867260TMEM240c.182T>A (p.Val61Glu)
1g.1535781C>ACA337867263TMEM240c.181G>T (p.Val61Leu)
1g.1535781C>GCA337867264TMEM240c.181G>C (p.Val61Leu)
gnomAD v4
1g.1535781C>TCA337867266TMEM240c.181G>A (p.Val61Met)
gnomAD v4
1g.1535782G>ACA526699TMEM240c.180C>T (p.Tyr60=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535782G>CCA337867269TMEM240c.180C>G (p.Tyr60Ter)
1g.1535782G=CA1144138402TMEM240c.180C= (p.Tyr60=)
1g.1535782G>TCA337867270TMEM240c.180C>A (p.Tyr60Ter)
1g.1535784_1535786delCA2695374805TMEM240c.178_180del (p.Tyr60del)
dbSNP
1g.1535783T>ACA337867273TMEM240c.179A>T (p.Tyr60Phe)
1g.1535783T>CCA337867276TMEM240c.179A>G (p.Tyr60Cys)
1g.1535783T>GCA337867280TMEM240c.179A>C (p.Tyr60Ser)
1g.1535784A=CA1149193100TMEM240c.178T= (p.Tyr60=)
1g.1535784A>CCA337867285TMEM240c.178T>G (p.Tyr60Asp)
1g.1535784A>GCA337867287TMEM240c.178T>C (p.Tyr60His)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.1535784A>TCA337867289TMEM240c.178T>A (p.Tyr60Asn)
1g.1535785G>ACA415768389TMEM240c.177C>T (p.His59=)
1g.1535785G>CCA337867298TMEM240c.177C>G (p.His59Gln)
1g.1535785G>TCA337867295TMEM240c.177C>A (p.His59Gln)
1g.1535786T>ACA337867300TMEM240c.176A>T (p.His59Leu)
1g.1535786T>CCA337867303TMEM240c.176A>G (p.His59Arg)
1g.1535786T>GCA337867305TMEM240c.176A>C (p.His59Pro)
1g.1535787G>ACA337867308TMEM240c.175C>T (p.His59Tyr)
dbSNP gnomAD v4 COSMIC
1g.1535787G>CCA337867310TMEM240c.175C>G (p.His59Asp)
1g.1535787G=CA1149193104TMEM240c.175C= (p.His59=)
1g.1535787G>TCA337867312TMEM240c.175C>A (p.His59Asn)
1g.1535788G>ACA415768397TMEM240c.174C>T (p.Ile58=)
1g.1535788G>CCA337867316TMEM240c.174C>G (p.Ile58Met)
1g.1535788G>TCA415768406TMEM240c.174C>A (p.Ile58=)
1g.1535789A>CCA337867326TMEM240c.173T>G (p.Ile58Ser)
1g.1535789A>GCA337867320TMEM240c.173T>C (p.Ile58Thr)
1g.1535789A>TCA337867323TMEM240c.173T>A (p.Ile58Asn)
1g.1535790T>ACA337867327TMEM240c.172A>T (p.Ile58Phe)
1g.1535790T>CCA337867329TMEM240c.172A>G (p.Ile58Val)
1g.1535790T>GCA337867330TMEM240c.172A>C (p.Ile58Leu)
1g.1535791A>CCA337867333TMEM240c.171T>G (p.His57Gln)
1g.1535791A>GCA415768416TMEM240c.171T>C (p.His57=)
gnomAD v4
1g.1535791A>TCA337867335TMEM240c.171T>A (p.His57Gln)
1g.1535792T>ACA337867338TMEM240c.170A>T (p.His57Leu)
1g.1535792T>CCA337867340TMEM240c.170A>G (p.His57Arg)
ClinVar
1g.1535792T>GCA337867339TMEM240c.170A>C (p.His57Pro)
1g.1535793G>ACA337867341TMEM240c.169C>T (p.His57Tyr)
1g.1535793G>CCA337867343TMEM240c.169C>G (p.His57Asp)
1g.1535793G>TCA337867344TMEM240c.169C>A (p.His57Asn)
1g.1535794G>ACA415768434TMEM240c.168C>T (p.His56=)
1g.1535794G>CCA337867345TMEM240c.168C>G (p.His56Gln)
1g.1535794G>TCA337867346TMEM240c.168C>A (p.His56Gln)
1g.1535795T>ACA337867347TMEM240c.167A>T (p.His56Leu)
1g.1535795T>CCA337867348TMEM240c.167A>G (p.His56Arg)
ClinVar dbSNP
1g.1535795T>GCA337867349TMEM240c.167A>C (p.His56Pro)
1g.1535796G>ACA337867350TMEM240c.166C>T (p.His56Tyr)
dbSNP
1g.1535796G>CCA337867351TMEM240c.166C>G (p.His56Asp)
1g.1535796G=CA1149193108TMEM240c.166C= (p.His56=)
1g.1535796G>TCA16796997TMEM240c.166C>A (p.His56Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535797C>ACA415768443TMEM240c.165G>T (p.Arg55=)
1g.1535797C>GCA415768444TMEM240c.165G>C (p.Arg55=)
1g.1535797C>TCA415768442TMEM240c.165G>A (p.Arg55=)
gnomAD v4
1g.1535798C>ACA337867352TMEM240c.165-1G>T (n.165-1G>T)
gnomAD v4
1g.1535798C>GCA337867354TMEM240c.165-1G>C (n.165-1G>C)
1g.1535798C>TCA337867353TMEM240c.165-1G>A (n.165-1G>A)
1g.1535799T>ACA337867355TMEM240c.165-2A>T (n.165-2A>T)
1g.1535799T>CCA337867357TMEM240c.165-2A>G (n.165-2A>G)
1g.1535799T>GCA337867356TMEM240c.165-2A>C (n.165-2A>C)
1g.1535800G>ACA521010116TMEM240c.165-3C>T (n.165-3C>T)
dbSNP gnomAD v2 gnomAD v4
1g.1535800G=CA1149193114TMEM240c.165-3C= (n.165-3C=)
1g.1535804delCA2541472052TMEM240c.165-3del (n.165-3del)
gnomAD v4
1g.1535801G>ACA1149193123TMEM240c.165-4C>T (n.165-4C>T)
dbSNP
1g.1535801G=CA1149193120TMEM240c.165-4C= (n.165-4C=)
1g.1535801G>TCA889464933TMEM240c.165-4C>A (n.165-4C>A)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched