Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.1535537T>ACA2642615594TMEM240c.374-30A>T (n.374-30A>T)
gnomAD v4
1g.1535537T>CCA526655TMEM240c.374-30A>G (n.374-30A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535537T>GCA1149192307TMEM240c.374-30A>C (n.374-30A>C)
dbSNP
1g.1535537T=CA1145029053TMEM240c.374-30A= (n.374-30A=)
1g.1535537_1535538delinsTGCA1149192308TMEM240c.374-31_374-30delinsCA (n.374-31_374-30delinsCA)
1g.1535538G>ACA2642615595TMEM240c.374-31C>T (n.374-31C>T)
gnomAD v4
1g.1535538G>TCA2642615596TMEM240c.374-31C>A (n.374-31C>A)
gnomAD v4
1g.1535541delCA1149192310TMEM240c.374-31del (n.374-31del)
dbSNP gnomAD v4
1g.1535539G>ACA2642615598TMEM240c.374-32C>T (n.374-32C>T)
gnomAD v4
1g.1535539G>CCA521010096TMEM240c.374-32C>G (n.374-32C>G)
dbSNP gnomAD v2 gnomAD v4
1g.1535539G=CA1149192314TMEM240c.374-32C= (n.374-32C=)
1g.1535539G>TCA2642615597TMEM240c.374-32C>A (n.374-32C>A)
gnomAD v4
1g.1535540G>ACA2642615599TMEM240c.374-33C>T (n.374-33C>T)
gnomAD v4
1g.1535540G>CCA1149192327TMEM240c.374-33C>G (n.374-33C>G)
dbSNP
1g.1535540G=CA1149192317TMEM240c.374-33C= (n.374-33C=)
1g.1535540G>TCA2642615600TMEM240c.374-33C>A (n.374-33C>A)
gnomAD v4
1g.1535541G>ACA2642615601TMEM240c.374-34C>T (n.374-34C>T)
gnomAD v4
1g.1535541G>TCA2642615602TMEM240c.374-34C>A (n.374-34C>A)
gnomAD v4
1g.1535542C>ACA2642615603TMEM240c.374-35G>T (n.374-35G>T)
gnomAD v4
1g.1535542C=CA1149192333TMEM240c.374-35G= (n.374-35G=)
1g.1535542C>TCA521010097TMEM240c.374-35G>A (n.374-35G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535543C>ACA2642615604TMEM240c.374-36G>T (n.374-36G>T)
gnomAD v4
1g.1535543C=CA1149192335TMEM240c.374-36G= (n.374-36G=)
1g.1535543C>TCA526656TMEM240c.374-36G>A (n.374-36G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535544G>ACA526657TMEM240c.374-37C>T (n.374-37C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535544G=CA1149192336TMEM240c.374-37C= (n.374-37C=)
1g.1535544G>TCA2574171760TMEM240c.374-37C>A (n.374-37C>A)
gnomAD v4
1g.1535545G>ACA521010098TMEM240c.374-38C>T (n.374-38C>T)
dbSNP gnomAD v2 gnomAD v4
1g.1535545G>CCA2574171766TMEM240c.374-38C>G (n.374-38C>G)
1g.1535545G=CA1149192342TMEM240c.374-38C= (n.374-38C=)
1g.1535545G>TCA526658TMEM240c.374-38C>A (n.374-38C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.1535546C>ACA521010099TMEM240c.374-39G>T (n.374-39G>T)
dbSNP gnomAD v2 gnomAD v4
1g.1535546C=CA1148455487TMEM240c.374-39G= (n.374-39G=)
1g.1535546C>GCA526659TMEM240c.374-39G>C (n.374-39G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535546C>TCA521010100TMEM240c.374-39G>A (n.374-39G>A)
dbSNP gnomAD v2 gnomAD v4
1g.1535547C>ACA2642615605TMEM240c.374-40G>T (n.374-40G>T)
gnomAD v4
1g.1535548A>GCA2642615607TMEM240c.374-41T>C (n.374-41T>C)
gnomAD v4
1g.1535548A>TCA2574171767TMEM240c.374-41T>A (n.374-41T>A)
1g.1535548dupCA2642615606TMEM240c.374-41dup (n.374-41dup)
gnomAD v4
1g.1535548_1535564delinsAGGGCGGCAGCACTCCCCA1149192358TMEM240c.373+25_374-41delinsGGGAGTGCTGCCGCCCT (n.373+25_374-41delinsGGGAGTGCTGCCGCCCT)
1g.1535549G>ACA16796738TMEM240c.373+40C>T (n.373+40C>T)
dbSNP gnomAD v4
1g.1535549G>CCA2642615608TMEM240c.373+40C>G (n.373+40C>G)
gnomAD v4
1g.1535549G=CA1149192359TMEM240c.373+40C= (n.373+40C=)
1g.1535549G>TCA2642615609TMEM240c.373+40C>A (n.373+40C>A)
gnomAD v4
1g.1535556_1535571delCA889464621TMEM240c.373+25_373+40del (n.373+25_373+40del)
dbSNP gnomAD v3 gnomAD v4
1g.1535550G>ACA2642615610TMEM240c.373+39C>T (n.373+39C>T)
gnomAD v4
1g.1535550G=CA1149192362TMEM240c.373+39C= (n.373+39C=)
1g.1535550G>TCA526660TMEM240c.373+39C>A (n.373+39C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535551G>ACA2642615611TMEM240c.373+38C>T (n.373+38C>T)
gnomAD v4
1g.1535551G>CCA2574171768TMEM240c.373+38C>G (n.373+38C>G)
1g.1535551G>TCA2642615612TMEM240c.373+38C>A (n.373+38C>A)
gnomAD v4
1g.1535552C>ACA2642615613TMEM240c.373+37G>T (n.373+37G>T)
gnomAD v4
1g.1535552C=CA1149192368TMEM240c.373+37G= (n.373+37G=)
1g.1535552C>TCA526661TMEM240c.373+37G>A (n.373+37G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535553G>ACA521010101TMEM240c.373+36C>T (n.373+36C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535553G=CA1149192371TMEM240c.373+36C= (n.373+36C=)
1g.1535553G>TCA2642615614TMEM240c.373+36C>A (n.373+36C>A)
gnomAD v4
1g.1535554G>ACA2642615615TMEM240c.373+35C>T (n.373+35C>T)
gnomAD v4
1g.1535554G>TCA2642615616TMEM240c.373+35C>A (n.373+35C>A)
gnomAD v4
1g.1535555C>TCA2642615617TMEM240c.373+34G>A (n.373+34G>A)
gnomAD v4
1g.1535557G>ACA2642615618TMEM240c.373+32C>T (n.373+32C>T)
gnomAD v4
1g.1535557G>CCA2558617694TMEM240c.373+32C>G (n.373+32C>G)
1g.1535557G>TCA2642615619TMEM240c.373+32C>A (n.373+32C>A)
gnomAD v4
1g.1535558C>ACA2642615620TMEM240c.373+31G>T (n.373+31G>T)
gnomAD v4
1g.1535558C=CA1149192381TMEM240c.373+31G= (n.373+31G=)
1g.1535558C>TCA16796744TMEM240c.373+31G>A (n.373+31G>A)
dbSNP gnomAD v4
1g.1535559A>GCA2642615621TMEM240c.373+30T>C (n.373+30T>C)
gnomAD v4
1g.1535560C>ACA2642615622TMEM240c.373+29G>T (n.373+29G>T)
gnomAD v4
1g.1535560C=CA1149192402TMEM240c.373+29G= (n.373+29G=)
1g.1535560C>TCA521010102TMEM240c.373+29G>A (n.373+29G>A)
dbSNP gnomAD v2 gnomAD v4
1g.1535561T>CCA2642615623TMEM240c.373+28A>G (n.373+28A>G)
gnomAD v4
1g.1535562C>ACA2574171770TMEM240c.373+27G>T (n.373+27G>T)
gnomAD v4
1g.1535562C=CA1149192405TMEM240c.373+27G= (n.373+27G=)
1g.1535562C>GCA2642615624TMEM240c.373+27G>C (n.373+27G>C)
gnomAD v4
1g.1535562C>TCA521010103TMEM240c.373+27G>A (n.373+27G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535563C>ACA1149192408TMEM240c.373+26G>T (n.373+26G>T)
dbSNP gnomAD v4
1g.1535563C=CA1146328400TMEM240c.373+26G= (n.373+26G=)
1g.1535563C>GCA521010104TMEM240c.373+26G>C (n.373+26G>C)
dbSNP gnomAD v2 gnomAD v4
1g.1535563C>TCA526662TMEM240c.373+26G>A (n.373+26G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535564C>ACA2642615625TMEM240c.373+25G>T (n.373+25G>T)
gnomAD v4
1g.1535564C=CA1149192415TMEM240c.373+25G= (n.373+25G=)
1g.1535564C>GCA2574171780TMEM240c.373+25G>C (n.373+25G>C)
gnomAD v4
1g.1535564C>TCA16796747TMEM240c.373+25G>A (n.373+25G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535564_1535573delinsCGGGCGGCGGCA1149192416TMEM240c.373+16_373+25delinsCCGCCGCCCG (n.373+16_373+25delinsCCGCCGCCCG)
1g.1535565G>ACA526663TMEM240c.373+24C>T (n.373+24C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535565G=CA1149192426TMEM240c.373+24C= (n.373+24C=)
1g.1535565G>TCA2642615626TMEM240c.373+24C>A (n.373+24C>A)
gnomAD v4
1g.1535566_1535574delCA521010105TMEM240c.373+16_373+24del (n.373+16_373+24del)
dbSNP gnomAD v2 gnomAD v4
1g.1535566G>ACA2642615628TMEM240c.373+23C>T (n.373+23C>T)
gnomAD v4
1g.1535571_1535573dupCA2642615627TMEM240c.373+21_373+23dup (n.373+21_373+23dup)
gnomAD v4
1g.1535567G>ACA2742145790TMEM240c.373+22C>T (n.373+22C>T)
1g.1535567G>CCA1149192434TMEM240c.373+22C>G (n.373+22C>G)
dbSNP
1g.1535567G=CA1149192430TMEM240c.373+22C= (n.373+22C=)
1g.1535568C=CA1149192453TMEM240c.373+21G= (n.373+21G=)
1g.1535568C>TCA521010106TMEM240c.373+21G>A (n.373+21G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535569G>ACA526664TMEM240c.373+20C>T (n.373+20C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535569G=CA1147861155TMEM240c.373+20C= (n.373+20C=)
1g.1535570G>ACA521010107TMEM240c.373+19C>T (n.373+19C>T)
dbSNP gnomAD v2 gnomAD v4
1g.1535570G=CA1149192460TMEM240c.373+19C= (n.373+19C=)
1g.1535571C>ACA2574171787TMEM240c.373+18G>T (n.373+18G>T)
1g.1535571C=CA1149192462TMEM240c.373+18G= (n.373+18G=)
1g.1535571C>TCA526665TMEM240c.373+18G>A (n.373+18G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535572G>ACA526666TMEM240c.373+17C>T (n.373+17C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535572G>CCA2642615630TMEM240c.373+17C>G (n.373+17C>G)
gnomAD v4
1g.1535572G=CA1149192464TMEM240c.373+17C= (n.373+17C=)
1g.1535572G>TCA2642615629TMEM240c.373+17C>A (n.373+17C>A)
gnomAD v4
1g.1535573G>ACA521010108TMEM240c.373+16C>T (n.373+16C>T)
dbSNP gnomAD v2 gnomAD v4
1g.1535573G=CA1149192467TMEM240c.373+16C= (n.373+16C=)
1g.1535574G>ACA526667TMEM240c.373+15C>T (n.373+15C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535574G=CA1149192470TMEM240c.373+15C= (n.373+15C=)
1g.1535574G>TCA2642615631TMEM240c.373+15C>A (n.373+15C>A)
gnomAD v4
1g.1535575C>TCA2642615632TMEM240c.373+14G>A (n.373+14G>A)
gnomAD v4
1g.1535577C>ACA2642615633TMEM240c.373+12G>T (n.373+12G>T)
gnomAD v4
1g.1535577C=CA1145258574TMEM240c.373+12G= (n.373+12G=)
1g.1535577C>GCA2742145799TMEM240c.373+12G>C (n.373+12G>C)
1g.1535577C>TCA526668TMEM240c.373+12G>A (n.373+12G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535577_1535580delinsCGAGCA1149192474TMEM240c.373+9_373+12delinsCTCG (n.373+9_373+12delinsCTCG)
1g.1535578G>ACA526670TMEM240c.373+11C>T (n.373+11C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535578G>CCA2591285358TMEM240c.373+11C>G (n.373+11C>G)
gnomAD v3 gnomAD v4
1g.1535578G=CA1149192479TMEM240c.373+11C= (n.373+11C=)
1g.1535579_1535581delCA526669TMEM240c.373+9_373+11del (n.373+9_373+11del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535579A>GCA2642615634TMEM240c.373+10T>C (n.373+10T>C)
gnomAD v4
1g.1535580G>ACA521010109TMEM240c.373+9C>T (n.373+9C>T)
dbSNP gnomAD v2 gnomAD v4
1g.1535580G>CCA1149192485TMEM240c.373+9C>G (n.373+9C>G)
dbSNP gnomAD v4
1g.1535580G=CA1149192487TMEM240c.373+9C= (n.373+9C=)
1g.1535580G>TCA2574171804TMEM240c.373+9C>A (n.373+9C>A)
gnomAD v4
1g.1535581G>ACA2740090556TMEM240c.373+8C>T (n.373+8C>T)
ClinVar
1g.1535583_1535594delCA2642615635TMEM240c.370_373+8del
gnomAD v4
1g.1535582C>ACA2642615636TMEM240c.373+7G>T (n.373+7G>T)
gnomAD v4
1g.1535582C=CA1149192494TMEM240c.373+7G= (n.373+7G=)
1g.1535582C>GCA2642615637TMEM240c.373+7G>C (n.373+7G>C)
gnomAD v4
1g.1535582C>TCA1149192497TMEM240c.373+7G>A (n.373+7G>A)
dbSNP gnomAD v4
1g.1535583dupCA521010110TMEM240c.373+6dup (n.373+6dup)
dbSNP gnomAD v2 gnomAD v4
1g.1535584C>ACA521010111TMEM240c.373+5G>T (n.373+5G>T)
dbSNP gnomAD v2 gnomAD v4
1g.1535584C=CA1149192502TMEM240c.373+5G= (n.373+5G=)
1g.1535584C>TCA2642615638TMEM240c.373+5G>A (n.373+5G>A)
gnomAD v4
1g.1535586C>ACA16796785TMEM240c.373+3G>T (n.373+3G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535586C=CA1149192506TMEM240c.373+3G= (n.373+3G=)
1g.1535586C>TCA2642615639TMEM240c.373+3G>A (n.373+3G>A)
gnomAD v4
1g.1535587A>CCA337866294TMEM240c.373+2T>G (n.373+2T>G)
1g.1535587A>GCA337866291TMEM240c.373+2T>C (n.373+2T>C)
gnomAD v4
1g.1535587A>TCA337866295TMEM240c.373+2T>A (n.373+2T>A)
gnomAD v4
1g.1535588C>ACA337866297TMEM240c.373+1G>T (n.373+1G>T)
gnomAD v4
1g.1535588C>GCA337866299TMEM240c.373+1G>C (n.373+1G>C)
1g.1535588C>TCA337866301TMEM240c.373+1G>A (n.373+1G>A)
gnomAD v4
1g.1535589delCA2580060515TMEM240c.373+1del
ClinVar
1g.1535589C>ACA337866304TMEM240c.373G>T (p.Asp125Tyr)
gnomAD v4
1g.1535589C=CA1146263541TMEM240c.373G= (p.Asp125=)
1g.1535589C>GCA337866306TMEM240c.373G>C (p.Asp125His)
dbSNP gnomAD v2 gnomAD v4
1g.1535589C>TCA16042304TMEM240c.373G>A (p.Asp125Asn)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535590G>ACA526671TMEM240c.372C>T (p.Tyr124=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535590G>CCA337866312TMEM240c.372C>G (p.Tyr124Ter)
1g.1535590G=CA1146393282TMEM240c.372C= (p.Tyr124=)
1g.1535590G>TCA337866309TMEM240c.372C>A (p.Tyr124Ter)
gnomAD v4
1g.1535591T>ACA337866319TMEM240c.371A>T (p.Tyr124Phe)
1g.1535591T>CCA337866320TMEM240c.371A>G (p.Tyr124Cys)
1g.1535591T>GCA337866321TMEM240c.371A>C (p.Tyr124Ser)
1g.1535592A>CCA337866323TMEM240c.370T>G (p.Tyr124Asp)
1g.1535592A>GCA337866325TMEM240c.370T>C (p.Tyr124His)
1g.1535592A>TCA337866327TMEM240c.370T>A (p.Tyr124Asn)
1g.1535593G>ACA415768522TMEM240c.369C>T (p.Arg123=)
gnomAD v4
1g.1535593G>CCA16796802TMEM240c.369C>G (p.Arg123=)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.1535593G=CA1149192537TMEM240c.369C= (p.Arg123=)
1g.1535593G>TCA415768525TMEM240c.369C>A (p.Arg123=)
gnomAD v4
1g.1535594C>ACA337866329TMEM240c.368G>T (p.Arg123Leu)
gnomAD v4
1g.1535594C=CA1149192546TMEM240c.368G= (p.Arg123=)
1g.1535594C>GCA337866333TMEM240c.368G>C (p.Arg123Pro)
1g.1535594C>TCA337866332TMEM240c.368G>A (p.Arg123His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535595G>ACA16796806TMEM240c.367C>T (p.Arg123Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535595G>CCA337866335TMEM240c.367C>G (p.Arg123Gly)
gnomAD v4
1g.1535595G=CA1149192563TMEM240c.367C= (p.Arg123=)
1g.1535595G>TCA337866336TMEM240c.367C>A (p.Arg123Ser)
gnomAD v4
1g.1535596C>ACA415768529TMEM240c.366G>T (p.Arg122=)
dbSNP gnomAD v2 gnomAD v4
1g.1535596C=CA1149192567TMEM240c.366G= (p.Arg122=)
1g.1535596C>GCA415768531TMEM240c.366G>C (p.Arg122=)
1g.1535596C>TCA415768532TMEM240c.366G>A (p.Arg122=)
dbSNP
1g.1535597C>ACA337866339TMEM240c.365G>T (p.Arg122Leu)
1g.1535597C=CA1149192584TMEM240c.365G= (p.Arg122=)
1g.1535597C>GCA337866341TMEM240c.365G>C (p.Arg122Pro)
ClinVar gnomAD v4
1g.1535597C>TCA337866343TMEM240c.365G>A (p.Arg122Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535598G>ACA526672TMEM240c.364C>T (p.Arg122Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535598G>CCA337866346TMEM240c.364C>G (p.Arg122Gly)
1g.1535598G=CA1148045756TMEM240c.364C= (p.Arg122=)
1g.1535598G>TCA415768533TMEM240c.364C>A (p.Arg122=)
1g.1535599T>ACA415768536TMEM240c.363A>T (p.Gly121=)
dbSNP
1g.1535599T>CCA415768537TMEM240c.363A>G (p.Gly121=)
dbSNP
1g.1535599T>GCA415768539TMEM240c.363A>C (p.Gly121=)
gnomAD v4
1g.1535599T=CA1149192604TMEM240c.363A= (p.Gly121=)
1g.1535600C>ACA337866347TMEM240c.362G>T (p.Gly121Val)
gnomAD v4
1g.1535600C=CA1149192610TMEM240c.362G= (p.Gly121=)
1g.1535600C>GCA337866349TMEM240c.362G>C (p.Gly121Ala)
dbSNP gnomAD v3 gnomAD v4
1g.1535600C>TCA337866352TMEM240c.362G>A (p.Gly121Glu)
dbSNP gnomAD v4
1g.1535601C>ACA337866354TMEM240c.361G>T (p.Gly121Ter)
1g.1535601C=CA1145679723TMEM240c.361G= (p.Gly121=)
1g.1535601C>GCA337866357TMEM240c.361G>C (p.Gly121Arg)
dbSNP gnomAD v2 gnomAD v4
1g.1535601C>TCA526673TMEM240c.361G>A (p.Gly121Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535601_1535602insACA2642615641TMEM240c.360_361insT (p.Gly121TrpfsTer?)
gnomAD v4
1g.1535602G>ACA526674TMEM240c.360C>T (p.Ala120=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535602G>CCA415768543TMEM240c.360C>G (p.Ala120=)
gnomAD v4
1g.1535602G=CA1142656335TMEM240c.360C= (p.Ala120=)
1g.1535602G>TCA415768545TMEM240c.360C>A (p.Ala120=)
gnomAD v4
1g.1535603dupCA2642615640TMEM240c.360dup (p.Gly121ArgfsTer?)
gnomAD v4
1g.1535603G>ACA337866359TMEM240c.359C>T (p.Ala120Val)
ClinVar
1g.1535603G>CCA337866361TMEM240c.359C>G (p.Ala120Gly)
1g.1535603G>TCA337866362TMEM240c.359C>A (p.Ala120Asp)
gnomAD v4
1g.1535604C>ACA337866364TMEM240c.358G>T (p.Ala120Ser)
dbSNP
1g.1535604C=CA1149192630TMEM240c.358G= (p.Ala120=)
1g.1535604C>GCA337866366TMEM240c.358G>C (p.Ala120Pro)
gnomAD v4
1g.1535604C>TCA337866367TMEM240c.358G>A (p.Ala120Thr)
1g.1535604_1535605insGCA2642615642TMEM240c.357_358insC (p.Ala120ArgfsTer?)
gnomAD v4
1g.1535605T>ACA337866369TMEM240c.357A>T (p.Arg119Ser)
1g.1535605T>CCA415768550TMEM240c.357A>G (p.Arg119=)
gnomAD v4
1g.1535605T>GCA337866371TMEM240c.357A>C (p.Arg119Ser)
1g.1535606C>ACA337866372TMEM240c.356G>T (p.Arg119Ile)
1g.1535606C>GCA337866374TMEM240c.356G>C (p.Arg119Thr)
1g.1535606C>TCA337866376TMEM240c.356G>A (p.Arg119Lys)
gnomAD v4
1g.1535607T>ACA337866380TMEM240c.355A>T (p.Arg119Ter)
1g.1535607T>CCA337866377TMEM240c.355A>G (p.Arg119Gly)
1g.1535607T>GCA415768553TMEM240c.355A>C (p.Arg119=)
1g.1535608C>ACA337866382TMEM240c.354G>T (p.Trp118Cys)
gnomAD v4
1g.1535608C>GCA337866383TMEM240c.354G>C (p.Trp118Cys)
1g.1535608C>TCA337866385TMEM240c.354G>A (p.Trp118Ter)
1g.1535609C>ACA337866388TMEM240c.353G>T (p.Trp118Leu)
gnomAD v4
1g.1535609C>GCA337866389TMEM240c.353G>C (p.Trp118Ser)
1g.1535609C>TCA337866391TMEM240c.353G>A (p.Trp118Ter)
gnomAD v4
1g.1535610A=CA1149192639TMEM240c.352T= (p.Trp118=)
1g.1535610A>CCA337866392TMEM240c.352T>G (p.Trp118Gly)
gnomAD v4
1g.1535610A>GCA337866394TMEM240c.352T>C (p.Trp118Arg)
dbSNP
1g.1535610A>TCA337866395TMEM240c.352T>A (p.Trp118Arg)
COSMIC
1g.1535611G>ACA415768562TMEM240c.351C>T (p.Ala117=)
1g.1535611G>CCA415768564TMEM240c.351C>G (p.Ala117=)
1g.1535611G>TCA415768565TMEM240c.351C>A (p.Ala117=)
1g.1535612G>ACA337866397TMEM240c.350C>T (p.Ala117Val)
gnomAD v4
1g.1535612G>CCA337866400TMEM240c.350C>G (p.Ala117Gly)
1g.1535612G>TCA337866401TMEM240c.350C>A (p.Ala117Asp)
1g.1535613C>ACA337866404TMEM240c.349G>T (p.Ala117Ser)
dbSNP gnomAD v4
1g.1535613C=CA1149192645TMEM240c.349G= (p.Ala117=)
1g.1535613C>GCA337866407TMEM240c.349G>C (p.Ala117Pro)
1g.1535613C>TCA526675TMEM240c.349G>A (p.Ala117Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535614G>ACA526676TMEM240c.348C>T (p.Arg116=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535614G>CCA415768568TMEM240c.348C>G (p.Arg116=)
gnomAD v4
1g.1535614G=CA1149192649TMEM240c.348C= (p.Arg116=)
1g.1535614G>TCA415768569TMEM240c.348C>A (p.Arg116=)
1g.1535619_1535625dupCA2642615643TMEM240c.342_348dup (p.Ala117ArgfsTer?)
gnomAD v4
1g.1535615C>ACA337866411TMEM240c.347G>T (p.Arg116Leu)
gnomAD v4
1g.1535615C=CA1149140095TMEM240c.347G= (p.Arg116=)
1g.1535615C>GCA337866412TMEM240c.347G>C (p.Arg116Pro)
1g.1535615C>TCA526677TMEM240c.347G>A (p.Arg116His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535616G>ACA272847TMEM240c.346C>T (p.Arg116Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535616G>CCA337866418TMEM240c.346C>G (p.Arg116Gly)
1g.1535616G=CA1148224146TMEM240c.346C= (p.Arg116=)
1g.1535616G>TCA337866419TMEM240c.346C>A (p.Arg116Ser)
gnomAD v4
1g.1535617C>ACA415768577TMEM240c.345G>T (p.Val115=)
1g.1535617C=CA1149192664TMEM240c.345G= (p.Val115=)
1g.1535617C>GCA415768575TMEM240c.345G>C (p.Val115=)
1g.1535617C>TCA415768573TMEM240c.345G>A (p.Val115=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535618A=CA1149192675TMEM240c.344T= (p.Val115=)
1g.1535618A>CCA16796847TMEM240c.344T>G (p.Val115Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535618A>GCA337866420TMEM240c.344T>C (p.Val115Ala)
ClinVar dbSNP gnomAD v4
1g.1535618A>TCA337866425TMEM240c.344T>A (p.Val115Glu)
1g.1535619C>ACA337866427TMEM240c.343G>T (p.Val115Leu)
gnomAD v4
1g.1535619C=CA1149192687TMEM240c.343G= (p.Val115=)
1g.1535619C>GCA337866429TMEM240c.343G>C (p.Val115Leu)
dbSNP gnomAD v2 gnomAD v4
1g.1535619C>TCA16796850TMEM240c.343G>A (p.Val115Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535620G>ACA526678TMEM240c.342C>T (p.Ala114=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535620G>CCA16796854TMEM240c.342C>G (p.Ala114=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535620G=CA1144596885TMEM240c.342C= (p.Ala114=)
1g.1535620G>TCA415768581TMEM240c.342C>A (p.Ala114=)
1g.1535621G>ACA337866446TMEM240c.341C>T (p.Ala114Val)
gnomAD v4
1g.1535621G>CCA337866436TMEM240c.341C>G (p.Ala114Gly)
1g.1535621G>TCA337866439TMEM240c.341C>A (p.Ala114Asp)
1g.1535622C>ACA337866449TMEM240c.340G>T (p.Ala114Ser)
1g.1535622C=CA1149192705TMEM240c.340G= (p.Ala114=)
1g.1535622C>GCA337866451TMEM240c.340G>C (p.Ala114Pro)
1g.1535622C>TCA337866454TMEM240c.340G>A (p.Ala114Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535623G>ACA526679TMEM240c.339C>T (p.Cys113=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1535623G>CCA337866458TMEM240c.339C>G (p.Cys113Trp)
gnomAD v4
1g.1535623G=CA1145365388TMEM240c.339C= (p.Cys113=)
1g.1535623G>TCA337866464TMEM240c.339C>A (p.Cys113Ter)
gnomAD v4
1g.1535624C>ACA337866467TMEM240c.338G>T (p.Cys113Phe)
1g.1535624C>GCA337866469TMEM240c.338G>C (p.Cys113Ser)
1g.1535624C>TCA337866472TMEM240c.338G>A (p.Cys113Tyr)
1g.1535625A=CA1149192708TMEM240c.337T= (p.Cys113=)
1g.1535625A>CCA337866474TMEM240c.337T>G (p.Cys113Gly)
1g.1535625A>GCA337866476TMEM240c.337T>C (p.Cys113Arg)
dbSNP gnomAD v2 gnomAD v4
1g.1535625A>TCA337866477TMEM240c.337T>A (p.Cys113Ser)
1g.1535626G>ACA415768588TMEM240c.336C>T (p.His112=)
1g.1535626G>CCA337866484TMEM240c.336C>G (p.His112Gln)
1g.1535626G=CA1149192713TMEM240c.336C= (p.His112=)
1g.1535626G>TCA337866480TMEM240c.336C>A (p.His112Gln)
dbSNP gnomAD v4
1g.1535627T>ACA337866486TMEM240c.335A>T (p.His112Leu)
1g.1535627T>CCA337866490TMEM240c.335A>G (p.His112Arg)
1g.1535627T>GCA337866489TMEM240c.335A>C (p.His112Pro)
1g.1535628G>ACA337866494TMEM240c.334C>T (p.His112Tyr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1535628G>CCA337866498TMEM240c.334C>G (p.His112Asp)
1g.1535628G=CA1149192718TMEM240c.334C= (p.His112=)
1g.1535628G>TCA337866500TMEM240c.334C>A (p.His112Asn)
gnomAD v4
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

Number of alleles fetched