Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.58506685C>TCA2638995938MTMR4c.1033+58G>A (n.1033+58G>A)
c.991+58G>A (n.991+58G>A)
c.1003+58G>A (n.1003+58G>A)
gnomAD v4
17g.58506686C>TCA2638995939MTMR4c.1033+57G>A (n.1033+57G>A)
c.991+57G>A (n.991+57G>A)
c.1003+57G>A (n.1003+57G>A)
gnomAD v4
17g.58506687T>CCA2638995940MTMR4c.1033+56A>G (n.1033+56A>G)
c.991+56A>G (n.991+56A>G)
c.1003+56A>G (n.1003+56A>G)
gnomAD v4
17g.58506689A>GCA2576334512MTMR4c.1033+54T>C (n.1033+54T>C)
c.991+54T>C (n.991+54T>C)
c.1003+54T>C (n.1003+54T>C)
gnomAD v4
17g.58506690C>ACA2638995941MTMR4c.1033+53G>T (n.1033+53G>T)
c.991+53G>T (n.991+53G>T)
c.1003+53G>T (n.1003+53G>T)
gnomAD v4
17g.58506691C>ACA2638995942MTMR4c.1033+52G>T (n.1033+52G>T)
c.991+52G>T (n.991+52G>T)
c.1003+52G>T (n.1003+52G>T)
gnomAD v4
17g.58506691C=CA2267730809MTMR4c.1033+52G= (n.1033+52G=)
c.991+52G= (n.991+52G=)
c.1003+52G= (n.1003+52G=)
17g.58506691C>TCA2267730810MTMR4c.1033+52G>A (n.1033+52G>A)
c.991+52G>A (n.991+52G>A)
c.1003+52G>A (n.1003+52G>A)
dbSNP gnomAD v4
17g.58506692A>GCA2638995943MTMR4c.1033+51T>C (n.1033+51T>C)
c.991+51T>C (n.991+51T>C)
c.1003+51T>C (n.1003+51T>C)
gnomAD v4
17g.58506694A>CCA2566642813MTMR4c.1033+49T>G (n.1033+49T>G)
c.991+49T>G (n.991+49T>G)
c.1003+49T>G (n.1003+49T>G)
gnomAD v4
17g.58506696C>ACA2267730811MTMR4c.1033+47G>T (n.1033+47G>T)
c.991+47G>T (n.991+47G>T)
c.1003+47G>T (n.1003+47G>T)
dbSNP
17g.58506696C=CA2267730812MTMR4c.1033+47G= (n.1033+47G=)
c.991+47G= (n.991+47G=)
c.1003+47G= (n.1003+47G=)
17g.58506696C>GCA626740866MTMR4c.1033+47G>C (n.1033+47G>C)
c.991+47G>C (n.991+47G>C)
c.1003+47G>C (n.1003+47G>C)
dbSNP gnomAD v2 gnomAD v4
17g.58506698_58506699delinsACCA2267730813MTMR4c.1033+44_1033+45delinsGT (n.1033+44_1033+45delinsGT)
c.991+44_991+45delinsGT (n.991+44_991+45delinsGT)
c.1003+44_1003+45delinsGT (n.1003+44_1003+45delinsGT)
17g.58506699C>ACA985016516MTMR4c.1033+44G>T (n.1033+44G>T)
c.991+44G>T (n.991+44G>T)
c.1003+44G>T (n.1003+44G>T)
dbSNP gnomAD v3 gnomAD v4
17g.58506699C=CA2267730815MTMR4c.1033+44G= (n.1033+44G=)
c.991+44G= (n.991+44G=)
c.1003+44G= (n.1003+44G=)
17g.58506701delCA2267730814MTMR4c.1033+44del (n.1033+44del)
c.991+44del (n.991+44del)
c.1003+44del (n.1003+44del)
dbSNP
17g.58506701C>ACA2638995944MTMR4c.1033+42G>T (n.1033+42G>T)
c.991+42G>T (n.991+42G>T)
c.1003+42G>T (n.1003+42G>T)
gnomAD v4
17g.58506703G>TCA2638995945MTMR4c.1033+40C>A (n.1033+40C>A)
c.991+40C>A (n.991+40C>A)
c.1003+40C>A (n.1003+40C>A)
gnomAD v4
17g.58506705G>ACA2638995946MTMR4c.1033+38C>T (n.1033+38C>T)
c.991+38C>T (n.991+38C>T)
c.1003+38C>T (n.1003+38C>T)
gnomAD v4
17g.58506706C>ACA8674359MTMR4c.1033+37G>T (n.1033+37G>T)
c.991+37G>T (n.991+37G>T)
c.1003+37G>T (n.1003+37G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58506706C=CA2267730816MTMR4c.1033+37G= (n.1033+37G=)
c.991+37G= (n.991+37G=)
c.1003+37G= (n.1003+37G=)
17g.58506708C=CA2267730817MTMR4c.1033+35G= (n.1033+35G=)
c.991+35G= (n.991+35G=)
c.1003+35G= (n.1003+35G=)
17g.58506708C>TCA626740867MTMR4c.1033+35G>A (n.1033+35G>A)
c.991+35G>A (n.991+35G>A)
c.1003+35G>A (n.1003+35G>A)
dbSNP gnomAD v2 gnomAD v4
17g.58506709A>GCA2638995947MTMR4c.1033+34T>C (n.1033+34T>C)
c.991+34T>C (n.991+34T>C)
c.1003+34T>C (n.1003+34T>C)
gnomAD v4
17g.58506710G>CCA2638995949MTMR4c.1033+33C>G (n.1033+33C>G)
c.991+33C>G (n.991+33C>G)
c.1003+33C>G (n.1003+33C>G)
gnomAD v4
17g.58506710G>TCA2518016954MTMR4c.1033+33C>A (n.1033+33C>A)
c.991+33C>A (n.991+33C>A)
c.1003+33C>A (n.1003+33C>A)
gnomAD v4
17g.58506711G>ACA8674360MTMR4c.1033+32C>T (n.1033+32C>T)
c.991+32C>T (n.991+32C>T)
c.1003+32C>T (n.1003+32C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58506711G=CA2267730818MTMR4c.1033+32C= (n.1033+32C=)
c.991+32C= (n.991+32C=)
c.1003+32C= (n.1003+32C=)
17g.58506712C>ACA2638995951MTMR4c.1033+31G>T (n.1033+31G>T)
c.991+31G>T (n.991+31G>T)
c.1003+31G>T (n.1003+31G>T)
gnomAD v4
17g.58506715G>TCA2638995952MTMR4c.1033+28C>A (n.1033+28C>A)
c.991+28C>A (n.991+28C>A)
c.1003+28C>A (n.1003+28C>A)
gnomAD v4
17g.58506716C=CA2267730819MTMR4c.1033+27G= (n.1033+27G=)
c.991+27G= (n.991+27G=)
c.1003+27G= (n.1003+27G=)
17g.58506716C>TCA626740868MTMR4c.1033+27G>A (n.1033+27G>A)
c.991+27G>A (n.991+27G>A)
c.1003+27G>A (n.1003+27G>A)
dbSNP gnomAD v2 gnomAD v4
17g.58506718G>ACA2638995953MTMR4c.1033+25C>T (n.1033+25C>T)
c.991+25C>T (n.991+25C>T)
c.1003+25C>T (n.1003+25C>T)
gnomAD v4
17g.58506719C>TCA2551535551MTMR4c.1033+24G>A (n.1033+24G>A)
c.991+24G>A (n.991+24G>A)
c.1003+24G>A (n.1003+24G>A)
17g.58506721G>ACA8674361MTMR4c.1033+22C>T (n.1033+22C>T)
c.991+22C>T (n.991+22C>T)
c.1003+22C>T (n.1003+22C>T)
dbSNP ExAC gnomAD v2
17g.58506721G=CA2267730820MTMR4c.1033+22C= (n.1033+22C=)
c.991+22C= (n.991+22C=)
c.1003+22C= (n.1003+22C=)
17g.58506721G>TCA292032569MTMR4c.1033+22C>A (n.1033+22C>A)
c.991+22C>A (n.991+22C>A)
c.1003+22C>A (n.1003+22C>A)
dbSNP gnomAD v4
17g.58506723C=CA2267730821MTMR4c.1033+20G= (n.1033+20G=)
c.991+20G= (n.991+20G=)
c.1003+20G= (n.1003+20G=)
17g.58506723C>TCA773524391MTMR4c.1033+20G>A (n.1033+20G>A)
c.991+20G>A (n.991+20G>A)
c.1003+20G>A (n.1003+20G>A)
dbSNP gnomAD v3 gnomAD v4
17g.58506724A=CA2267730822MTMR4c.1033+19T= (n.1033+19T=)
c.991+19T= (n.991+19T=)
c.1003+19T= (n.1003+19T=)
17g.58506724A>GCA8674362MTMR4c.1033+19T>C (n.1033+19T>C)
c.991+19T>C (n.991+19T>C)
c.1003+19T>C (n.1003+19T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.58506725C>ACA2638995956MTMR4c.1033+18G>T (n.1033+18G>T)
c.991+18G>T (n.991+18G>T)
c.1003+18G>T (n.1003+18G>T)
gnomAD v4
17g.58506725C>GCA2638995958MTMR4c.1033+18G>C (n.1033+18G>C)
c.991+18G>C (n.991+18G>C)
c.1003+18G>C (n.1003+18G>C)
gnomAD v4
17g.58506726T>CCA2638995959MTMR4c.1033+17A>G (n.1033+17A>G)
c.991+17A>G (n.991+17A>G)
c.1003+17A>G (n.1003+17A>G)
gnomAD v4
17g.58506727G>ACA773524394MTMR4c.1033+16C>T (n.1033+16C>T)
c.991+16C>T (n.991+16C>T)
c.1003+16C>T (n.1003+16C>T)
dbSNP gnomAD v4
17g.58506727G=CA2267730823MTMR4c.1033+16C= (n.1033+16C=)
c.991+16C= (n.991+16C=)
c.1003+16C= (n.1003+16C=)
17g.58506727G>TCA2576334513MTMR4c.1033+16C>A (n.1033+16C>A)
c.991+16C>A (n.991+16C>A)
c.1003+16C>A (n.1003+16C>A)
17g.58506730A>TCA2638995961MTMR4c.1033+13T>A (n.1033+13T>A)
c.991+13T>A (n.991+13T>A)
c.1003+13T>A (n.1003+13T>A)
gnomAD v4
17g.58506730dupCA2638995960MTMR4c.1033+13dup (n.1033+13dup)
c.991+13dup (n.991+13dup)
c.1003+13dup (n.1003+13dup)
gnomAD v4
17g.58506732A>GCA2638995962MTMR4c.1033+11T>C (n.1033+11T>C)
c.991+11T>C (n.991+11T>C)
c.1003+11T>C (n.1003+11T>C)
gnomAD v4
17g.58506733A=CA2267730824MTMR4c.1033+10T= (n.1033+10T=)
c.991+10T= (n.991+10T=)
c.1003+10T= (n.1003+10T=)
17g.58506733A>GCA2267730825MTMR4c.1033+10T>C (n.1033+10T>C)
c.991+10T>C (n.991+10T>C)
c.1003+10T>C (n.1003+10T>C)
dbSNP
17g.58506734C>ACA2638995963MTMR4c.1033+9G>T (n.1033+9G>T)
c.991+9G>T (n.991+9G>T)
c.1003+9G>T (n.1003+9G>T)
gnomAD v4
17g.58506734C>TCA645576237MTMR4c.1033+9G>A (n.1033+9G>A)
c.991+9G>A (n.991+9G>A)
c.1003+9G>A (n.1003+9G>A)
COSMIC
17g.58506736G=CA2267730826MTMR4c.1033+7C= (n.1033+7C=)
c.991+7C= (n.991+7C=)
c.1003+7C= (n.1003+7C=)
17g.58506736G>TCA626740869MTMR4c.1033+7C>A (n.1033+7C>A)
c.991+7C>A (n.991+7C>A)
c.1003+7C>A (n.1003+7C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.58506741A=CA2267730827MTMR4c.1033+2T= (n.1033+2T=)
c.991+2T= (n.991+2T=)
c.1003+2T= (n.1003+2T=)
17g.58506741A>CCA400362407MTMR4c.1033+2T>G (n.1033+2T>G)
c.991+2T>G (n.991+2T>G)
c.1003+2T>G (n.1003+2T>G)
dbSNP
17g.58506741A>GCA400362410MTMR4c.1033+2T>C (n.1033+2T>C)
c.991+2T>C (n.991+2T>C)
c.1003+2T>C (n.1003+2T>C)
17g.58506741A>TCA400362414MTMR4c.1033+2T>A (n.1033+2T>A)
c.991+2T>A (n.991+2T>A)
c.1003+2T>A (n.1003+2T>A)
17g.58506742C>ACA400362423MTMR4c.1033+1G>T (n.1033+1G>T)
c.991+1G>T (n.991+1G>T)
c.1003+1G>T (n.1003+1G>T)
gnomAD v4
17g.58506742C>GCA400362427MTMR4c.1033+1G>C (n.1033+1G>C)
c.991+1G>C (n.991+1G>C)
c.1003+1G>C (n.1003+1G>C)
17g.58506742C>TCA400362418MTMR4c.1033+1G>A (n.1033+1G>A)
c.991+1G>A (n.991+1G>A)
c.1003+1G>A (n.1003+1G>A)
17g.58506743C>ACA400362430MTMR4c.1033G>T (p.Glu345Ter)
c.991G>T (p.Glu331Ter)
c.1003G>T (p.Glu335Ter)
COSMIC
17g.58506743C>GCA400362433MTMR4c.1033G>C (p.Glu345Gln)
c.991G>C (p.Glu331Gln)
c.1003G>C (p.Glu335Gln)
gnomAD v4
17g.58506743C>TCA400362437MTMR4c.1033G>A (p.Glu345Lys)
c.991G>A (p.Glu331Lys)
c.1003G>A (p.Glu335Lys)
17g.58506744T>ACA400362442MTMR4c.1032A>T (p.Glu344Asp)
c.990A>T (p.Glu330Asp)
c.1002A>T (p.Glu334Asp)
17g.58506744T>CCA501060359MTMR4c.1032A>G (p.Glu344=)
c.990A>G (p.Glu330=)
c.1002A>G (p.Glu334=)
17g.58506744T>GCA400362445MTMR4c.1032A>C (p.Glu344Asp)
c.990A>C (p.Glu330Asp)
c.1002A>C (p.Glu334Asp)
17g.58506745T>ACA400362447MTMR4c.1031A>T (p.Glu344Val)
c.989A>T (p.Glu330Val)
c.1001A>T (p.Glu334Val)
17g.58506745T>CCA400362448MTMR4c.1031A>G (p.Glu344Gly)
c.989A>G (p.Glu330Gly)
c.1001A>G (p.Glu334Gly)
17g.58506745T>GCA400362452MTMR4c.1031A>C (p.Glu344Ala)
c.989A>C (p.Glu330Ala)
c.1001A>C (p.Glu334Ala)
17g.58506746C>ACA400362457MTMR4c.1030G>T (p.Glu344Ter)
c.988G>T (p.Glu330Ter)
c.1000G>T (p.Glu334Ter)
17g.58506746C>GCA400362459MTMR4c.1030G>C (p.Glu344Gln)
c.988G>C (p.Glu330Gln)
c.1000G>C (p.Glu334Gln)
17g.58506746C>TCA400362462MTMR4c.1030G>A (p.Glu344Lys)
c.988G>A (p.Glu330Lys)
c.1000G>A (p.Glu334Lys)
17g.58506747A>CCA400362465MTMR4c.1029T>G (p.Cys343Trp)
c.987T>G (p.Cys329Trp)
c.999T>G (p.Cys333Trp)
17g.58506747A>GCA501060362MTMR4c.1029T>C (p.Cys343=)
c.987T>C (p.Cys329=)
c.999T>C (p.Cys333=)
17g.58506747A>TCA400362466MTMR4c.1029T>A (p.Cys343Ter)
c.987T>A (p.Cys329Ter)
c.999T>A (p.Cys333Ter)
17g.58506748C>ACA400362478MTMR4c.1028G>T (p.Cys343Phe)
c.986G>T (p.Cys329Phe)
c.998G>T (p.Cys333Phe)
17g.58506748C>GCA400362476MTMR4c.1028G>C (p.Cys343Ser)
c.986G>C (p.Cys329Ser)
c.998G>C (p.Cys333Ser)
17g.58506748C>TCA400362473MTMR4c.1028G>A (p.Cys343Tyr)
c.986G>A (p.Cys329Tyr)
c.998G>A (p.Cys333Tyr)
17g.58506749A>CCA400362483MTMR4c.1027T>G (p.Cys343Gly)
c.985T>G (p.Cys329Gly)
c.997T>G (p.Cys333Gly)
17g.58506749A>GCA400362487MTMR4c.1027T>C (p.Cys343Arg)
c.985T>C (p.Cys329Arg)
c.997T>C (p.Cys333Arg)
17g.58506749A>TCA400362490MTMR4c.1027T>A (p.Cys343Ser)
c.985T>A (p.Cys329Ser)
c.997T>A (p.Cys333Ser)
17g.58506750T>ACA400362494MTMR4c.1026A>T (p.Glu342Asp)
c.984A>T (p.Glu328Asp)
c.996A>T (p.Glu332Asp)
17g.58506750T>CCA501060364MTMR4c.1026A>G (p.Glu342=)
c.984A>G (p.Glu328=)
c.996A>G (p.Glu332=)
17g.58506750T>GCA400362496MTMR4c.1026A>C (p.Glu342Asp)
c.984A>C (p.Glu328Asp)
c.996A>C (p.Glu332Asp)
17g.58506751T>ACA400362501MTMR4c.1025A>T (p.Glu342Val)
c.983A>T (p.Glu328Val)
c.995A>T (p.Glu332Val)
17g.58506751T>CCA400362506MTMR4c.1025A>G (p.Glu342Gly)
c.983A>G (p.Glu328Gly)
c.995A>G (p.Glu332Gly)
17g.58506751T>GCA400362511MTMR4c.1025A>C (p.Glu342Ala)
c.983A>C (p.Glu328Ala)
c.995A>C (p.Glu332Ala)
17g.58506752C>ACA400362523MTMR4c.1024G>T (p.Glu342Ter)
c.982G>T (p.Glu328Ter)
c.994G>T (p.Glu332Ter)
gnomAD v4
17g.58506752C>GCA400362527MTMR4c.1024G>C (p.Glu342Gln)
c.982G>C (p.Glu328Gln)
c.994G>C (p.Glu332Gln)
17g.58506752C>TCA400362528MTMR4c.1024G>A (p.Glu342Lys)
c.982G>A (p.Glu328Lys)
c.994G>A (p.Glu332Lys)
17g.58506753A>CCA400362534MTMR4c.1023T>G (p.Cys341Trp)
c.981T>G (p.Cys327Trp)
c.993T>G (p.Cys331Trp)
17g.58506753A>GCA501060366MTMR4c.1023T>C (p.Cys341=)
c.981T>C (p.Cys327=)
c.993T>C (p.Cys331=)
17g.58506753A>TCA400362537MTMR4c.1023T>A (p.Cys341Ter)
c.981T>A (p.Cys327Ter)
c.993T>A (p.Cys331Ter)
17g.58506754C>ACA400362547MTMR4c.1022G>T (p.Cys341Phe)
c.980G>T (p.Cys327Phe)
c.992G>T (p.Cys331Phe)
17g.58506754C=CA2267730828MTMR4c.1022G= (p.Cys341=)
c.980G= (p.Cys327=)
c.992G= (p.Cys331=)
17g.58506754C>GCA400362551MTMR4c.1022G>C (p.Cys341Ser)
c.980G>C (p.Cys327Ser)
c.992G>C (p.Cys331Ser)
17g.58506754C>TCA400362543MTMR4c.1022G>A (p.Cys341Tyr)
c.980G>A (p.Cys327Tyr)
c.992G>A (p.Cys331Tyr)
dbSNP
17g.58506755A>CCA400362557MTMR4c.1021T>G (p.Cys341Gly)
c.979T>G (p.Cys327Gly)
c.991T>G (p.Cys331Gly)
17g.58506755A>GCA400362561MTMR4c.1021T>C (p.Cys341Arg)
c.979T>C (p.Cys327Arg)
c.991T>C (p.Cys331Arg)
17g.58506755A>TCA400362563MTMR4c.1021T>A (p.Cys341Ser)
c.979T>A (p.Cys327Ser)
c.991T>A (p.Cys331Ser)
17g.58506756G>ACA8674363MTMR4c.1020C>T (p.Gly340=)
c.978C>T (p.Gly326=)
c.990C>T (p.Gly330=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58506756G>CCA501060367MTMR4c.1020C>G (p.Gly340=)
c.978C>G (p.Gly326=)
c.990C>G (p.Gly330=)
17g.58506756G=CA2267730829MTMR4c.1020C= (p.Gly340=)
c.978C= (p.Gly326=)
c.990C= (p.Gly330=)
17g.58506756G>TCA501060368MTMR4c.1020C>A (p.Gly340=)
c.978C>A (p.Gly326=)
c.990C>A (p.Gly330=)
17g.58506757C>ACA400362571MTMR4c.1019G>T (p.Gly340Val)
c.977G>T (p.Gly326Val)
c.989G>T (p.Gly330Val)
17g.58506757C>GCA400362574MTMR4c.1019G>C (p.Gly340Ala)
c.977G>C (p.Gly326Ala)
c.989G>C (p.Gly330Ala)
17g.58506757C>TCA400362578MTMR4c.1019G>A (p.Gly340Asp)
c.977G>A (p.Gly326Asp)
c.989G>A (p.Gly330Asp)
17g.58506758C>ACA400362583MTMR4c.1018G>T (p.Gly340Cys)
c.976G>T (p.Gly326Cys)
c.988G>T (p.Gly330Cys)
17g.58506758C>GCA400362589MTMR4c.1018G>C (p.Gly340Arg)
c.976G>C (p.Gly326Arg)
c.988G>C (p.Gly330Arg)
17g.58506758C>TCA400362592MTMR4c.1018G>A (p.Gly340Ser)
c.976G>A (p.Gly326Ser)
c.988G>A (p.Gly330Ser)
17g.58506759T>ACA501060370MTMR4c.1017A>T (p.Gly339=)
c.975A>T (p.Gly325=)
c.987A>T (p.Gly329=)
17g.58506759T>CCA501060371MTMR4c.1017A>G (p.Gly339=)
c.975A>G (p.Gly325=)
c.987A>G (p.Gly329=)
dbSNP gnomAD v2 gnomAD v4
17g.58506759T>GCA501060369MTMR4c.1017A>C (p.Gly339=)
c.975A>C (p.Gly325=)
c.987A>C (p.Gly329=)
17g.58506759T=CA2267730830MTMR4c.1017A= (p.Gly339=)
c.975A= (p.Gly325=)
c.987A= (p.Gly329=)
17g.58506760C>ACA400362597MTMR4c.1016G>T (p.Gly339Val)
c.974G>T (p.Gly325Val)
c.986G>T (p.Gly329Val)
17g.58506760C>GCA400362600MTMR4c.1016G>C (p.Gly339Ala)
c.974G>C (p.Gly325Ala)
c.986G>C (p.Gly329Ala)
17g.58506760C>TCA400362604MTMR4c.1016G>A (p.Gly339Glu)
c.974G>A (p.Gly325Glu)
c.986G>A (p.Gly329Glu)
17g.58506761C>ACA400362615MTMR4c.1015G>T (p.Gly339Ter)
c.973G>T (p.Gly325Ter)
c.985G>T (p.Gly329Ter)
17g.58506761C>GCA400362611MTMR4c.1015G>C (p.Gly339Arg)
c.973G>C (p.Gly325Arg)
c.985G>C (p.Gly329Arg)
17g.58506761C>TCA400362609MTMR4c.1015G>A (p.Gly339Arg)
c.973G>A (p.Gly325Arg)
c.985G>A (p.Gly329Arg)
17g.58506762A=CA2267730831MTMR4c.1014T= (p.Gly338=)
c.972T= (p.Gly324=)
c.984T= (p.Gly328=)
17g.58506762A>CCA501060375MTMR4c.1014T>G (p.Gly338=)
c.972T>G (p.Gly324=)
c.984T>G (p.Gly328=)
dbSNP
17g.58506762A>GCA501060372MTMR4c.1014T>C (p.Gly338=)
c.972T>C (p.Gly324=)
c.984T>C (p.Gly328=)
gnomAD v4
17g.58506762A>TCA501060374MTMR4c.1014T>A (p.Gly338=)
c.972T>A (p.Gly324=)
c.984T>A (p.Gly328=)
17g.58506763C>ACA400362620MTMR4c.1013G>T (p.Gly338Val)
c.971G>T (p.Gly324Val)
c.983G>T (p.Gly328Val)
17g.58506763C>GCA400362622MTMR4c.1013G>C (p.Gly338Ala)
c.971G>C (p.Gly324Ala)
c.983G>C (p.Gly328Ala)
17g.58506763C>TCA400362625MTMR4c.1013G>A (p.Gly338Asp)
c.971G>A (p.Gly324Asp)
c.983G>A (p.Gly328Asp)
gnomAD v4
17g.58506764C>ACA400362628MTMR4c.1012G>T (p.Gly338Cys)
c.970G>T (p.Gly324Cys)
c.982G>T (p.Gly328Cys)
17g.58506764C>GCA400362631MTMR4c.1012G>C (p.Gly338Arg)
c.970G>C (p.Gly324Arg)
c.982G>C (p.Gly328Arg)
17g.58506764C>TCA400362634MTMR4c.1012G>A (p.Gly338Ser)
c.970G>A (p.Gly324Ser)
c.982G>A (p.Gly328Ser)
17g.58506765C>ACA400362637MTMR4c.1011G>T (p.Lys337Asn)
c.969G>T (p.Lys323Asn)
c.981G>T (p.Lys327Asn)
gnomAD v4
17g.58506765C=CA2267730832MTMR4c.1011G= (p.Lys337=)
c.969G= (p.Lys323=)
c.981G= (p.Lys327=)
17g.58506765C>GCA400362639MTMR4c.1011G>C (p.Lys337Asn)
c.969G>C (p.Lys323Asn)
c.981G>C (p.Lys327Asn)
17g.58506765C>TCA501060376MTMR4c.1011G>A (p.Lys337=)
c.969G>A (p.Lys323=)
c.981G>A (p.Lys327=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.58506766T>ACA400362643MTMR4c.1010A>T (p.Lys337Met)
c.968A>T (p.Lys323Met)
c.980A>T (p.Lys327Met)
17g.58506766T>CCA400362646MTMR4c.1010A>G (p.Lys337Arg)
c.968A>G (p.Lys323Arg)
c.980A>G (p.Lys327Arg)
17g.58506766T>GCA400362648MTMR4c.1010A>C (p.Lys337Thr)
c.968A>C (p.Lys323Thr)
c.980A>C (p.Lys327Thr)
17g.58506767T>ACA400362652MTMR4c.1009A>T (p.Lys337Ter)
c.967A>T (p.Lys323Ter)
c.979A>T (p.Lys327Ter)
17g.58506767T>CCA400362654MTMR4c.1009A>G (p.Lys337Glu)
c.967A>G (p.Lys323Glu)
c.979A>G (p.Lys327Glu)
17g.58506767T>GCA400362656MTMR4c.1009A>C (p.Lys337Gln)
c.967A>C (p.Lys323Gln)
c.979A>C (p.Lys327Gln)
17g.58506768G>ACA501060380MTMR4c.1008C>T (p.Ala336=)
c.966C>T (p.Ala322=)
c.978C>T (p.Ala326=)
17g.58506768G>CCA501060381MTMR4c.1008C>G (p.Ala336=)
c.966C>G (p.Ala322=)
c.978C>G (p.Ala326=)
17g.58506768G>TCA501060382MTMR4c.1008C>A (p.Ala336=)
c.966C>A (p.Ala322=)
c.978C>A (p.Ala326=)
17g.58506769G>ACA400362662MTMR4c.1007C>T (p.Ala336Val)
c.965C>T (p.Ala322Val)
c.977C>T (p.Ala326Val)
17g.58506769G>CCA400362663MTMR4c.1007C>G (p.Ala336Gly)
c.965C>G (p.Ala322Gly)
c.977C>G (p.Ala326Gly)
17g.58506769G>TCA400362660MTMR4c.1007C>A (p.Ala336Asp)
c.965C>A (p.Ala322Asp)
c.977C>A (p.Ala326Asp)
17g.58506770C>ACA400362666MTMR4c.1006G>T (p.Ala336Ser)
c.964G>T (p.Ala322Ser)
c.976G>T (p.Ala326Ser)
17g.58506770C>GCA400362669MTMR4c.1006G>C (p.Ala336Pro)
c.964G>C (p.Ala322Pro)
c.976G>C (p.Ala326Pro)
17g.58506770C>TCA400362672MTMR4c.1006G>A (p.Ala336Thr)
c.964G>A (p.Ala322Thr)
c.976G>A (p.Ala326Thr)
gnomAD v4
17g.58506771C>ACA501060384MTMR4c.1005G>T (p.Arg335=)
c.963G>T (p.Arg321=)
c.975G>T (p.Arg325=)
17g.58506771C>GCA501060385MTMR4c.1005G>C (p.Arg335=)
c.963G>C (p.Arg321=)
c.975G>C (p.Arg325=)
17g.58506771C>TCA501060386MTMR4c.1005G>A (p.Arg335=)
c.963G>A (p.Arg321=)
c.975G>A (p.Arg325=)
gnomAD v4
17g.58506772C>ACA400362675MTMR4c.1004G>T (p.Arg335Leu)
c.962G>T (p.Arg321Leu)
c.974G>T (p.Arg325Leu)
17g.58506772C>GCA400362676MTMR4c.1004G>C (p.Arg335Pro)
c.962G>C (p.Arg321Pro)
c.974G>C (p.Arg325Pro)
17g.58506772C>TCA400362679MTMR4c.1004G>A (p.Arg335Gln)
c.962G>A (p.Arg321Gln)
c.974G>A (p.Arg325Gln)
17g.58506773G>ACA8674364MTMR4c.1003C>T (p.Arg335Trp)
c.961C>T (p.Arg321Trp)
c.973C>T (p.Arg325Trp)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.58506773G>CCA400362684MTMR4c.1003C>G (p.Arg335Gly)
c.961C>G (p.Arg321Gly)
c.973C>G (p.Arg325Gly)
17g.58506773G=CA2267730833MTMR4c.1003C= (p.Arg335=)
c.961C= (p.Arg321=)
c.973C= (p.Arg325=)
17g.58506773G>TCA501060387MTMR4c.1003C>A (p.Arg335=)
c.961C>A (p.Arg321=)
c.973C>A (p.Arg325=)
17g.58506774G>ACA501060388MTMR4c.1002C>T (p.Asn334=)
c.960C>T (p.Asn320=)
c.972C>T (p.Asn324=)
dbSNP gnomAD v4
17g.58506774G>CCA400362686MTMR4c.1002C>G (p.Asn334Lys)
c.960C>G (p.Asn320Lys)
c.972C>G (p.Asn324Lys)
17g.58506774G=CA2267730834MTMR4c.1002C= (p.Asn334=)
c.960C= (p.Asn320=)
c.972C= (p.Asn324=)
17g.58506774G>TCA400362688MTMR4c.1002C>A (p.Asn334Lys)
c.960C>A (p.Asn320Lys)
c.972C>A (p.Asn324Lys)
17g.58506775T>ACA400362691MTMR4c.1001A>T (p.Asn334Ile)
c.959A>T (p.Asn320Ile)
c.971A>T (p.Asn324Ile)
17g.58506775T>CCA400362692MTMR4c.1001A>G (p.Asn334Ser)
c.959A>G (p.Asn320Ser)
c.971A>G (p.Asn324Ser)
17g.58506775T>GCA400362695MTMR4c.1001A>C (p.Asn334Thr)
c.959A>C (p.Asn320Thr)
c.971A>C (p.Asn324Thr)
17g.58506776T>ACA400362706MTMR4c.1000A>T (p.Asn334Tyr)
c.958A>T (p.Asn320Tyr)
c.970A>T (p.Asn324Tyr)
17g.58506776T>CCA400362699MTMR4c.1000A>G (p.Asn334Asp)
c.958A>G (p.Asn320Asp)
c.970A>G (p.Asn324Asp)
17g.58506776T>GCA400362702MTMR4c.1000A>C (p.Asn334His)
c.958A>C (p.Asn320His)
c.970A>C (p.Asn324His)
17g.58506777G>ACA501060390MTMR4c.999C>T (p.Ala333=)
c.957C>T (p.Ala319=)
c.969C>T (p.Ala323=)
17g.58506777G>CCA501060391MTMR4c.999C>G (p.Ala333=)
c.957C>G (p.Ala319=)
c.969C>G (p.Ala323=)
17g.58506777G>TCA501060392MTMR4c.999C>A (p.Ala333=)
c.957C>A (p.Ala319=)
c.969C>A (p.Ala323=)
17g.58506778G>ACA400362710MTMR4c.998C>T (p.Ala333Val)
c.956C>T (p.Ala319Val)
c.968C>T (p.Ala323Val)
17g.58506778G>CCA400362715MTMR4c.998C>G (p.Ala333Gly)
c.956C>G (p.Ala319Gly)
c.968C>G (p.Ala323Gly)
17g.58506778G>TCA400362716MTMR4c.998C>A (p.Ala333Asp)
c.956C>A (p.Ala319Asp)
c.968C>A (p.Ala323Asp)
17g.58506779C>ACA400362720MTMR4c.997G>T (p.Ala333Ser)
c.955G>T (p.Ala319Ser)
c.967G>T (p.Ala323Ser)
17g.58506779C>GCA400362724MTMR4c.997G>C (p.Ala333Pro)
c.955G>C (p.Ala319Pro)
c.967G>C (p.Ala323Pro)
17g.58506779C>TCA400362729MTMR4c.997G>A (p.Ala333Thr)
c.955G>A (p.Ala319Thr)
c.967G>A (p.Ala323Thr)
17g.58506780C>ACA501060397MTMR4c.996G>T (p.Val332=)
c.954G>T (p.Val318=)
c.966G>T (p.Val322=)
17g.58506780C>GCA501060396MTMR4c.996G>C (p.Val332=)
c.954G>C (p.Val318=)
c.966G>C (p.Val322=)
17g.58506780C>TCA501060395MTMR4c.996G>A (p.Val332=)
c.954G>A (p.Val318=)
c.966G>A (p.Val322=)
17g.58506781A>CCA400362734MTMR4c.995T>G (p.Val332Gly)
c.953T>G (p.Val318Gly)
c.965T>G (p.Val322Gly)
17g.58506781A>GCA400362736MTMR4c.995T>C (p.Val332Ala)
c.953T>C (p.Val318Ala)
c.965T>C (p.Val322Ala)
17g.58506781A>TCA400362739MTMR4c.995T>A (p.Val332Glu)
c.953T>A (p.Val318Glu)
c.965T>A (p.Val322Glu)
17g.58506782C>ACA400362752MTMR4c.994G>T (p.Val332Leu)
c.952G>T (p.Val318Leu)
c.964G>T (p.Val322Leu)
17g.58506782C=CA2267730835MTMR4c.994G= (p.Val332=)
c.952G= (p.Val318=)
c.964G= (p.Val322=)
17g.58506782C>GCA400362756MTMR4c.994G>C (p.Val332Leu)
c.952G>C (p.Val318Leu)
c.964G>C (p.Val322Leu)
17g.58506782C>TCA8674365MTMR4c.994G>A (p.Val332Met)
c.952G>A (p.Val318Met)
c.964G>A (p.Val322Met)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.58506783T>ACA501060398MTMR4c.993A>T (p.Ala331=)
c.951A>T (p.Ala317=)
c.963A>T (p.Ala321=)
17g.58506783T>CCA501060399MTMR4c.993A>G (p.Ala331=)
c.951A>G (p.Ala317=)
c.963A>G (p.Ala321=)
17g.58506783T>GCA501060400MTMR4c.993A>C (p.Ala331=)
c.951A>C (p.Ala317=)
c.963A>C (p.Ala321=)
17g.58506784G>ACA400362766MTMR4c.992C>T (p.Ala331Val)
c.950C>T (p.Ala317Val)
c.962C>T (p.Ala321Val)
17g.58506784G>CCA400362777MTMR4c.992C>G (p.Ala331Gly)
c.950C>G (p.Ala317Gly)
c.962C>G (p.Ala321Gly)
17g.58506784G>TCA400362772MTMR4c.992C>A (p.Ala331Glu)
c.950C>A (p.Ala317Glu)
c.962C>A (p.Ala321Glu)

Number of alleles fetched