Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.96253887_96253900dup | CA269763 | TMEM127 | c.627_640dup (p.Met214SerfsTer?) c.375_388dup (p.Met130SerfsTer?) c.-292_-279dup (n.-292_-279dup) | ClinVar dbSNP |
2 | g.96253891A= | CA1272522047 | TMEM127 | c.634T= (p.Ser212=) c.382T= (p.Ser128=) c.-285T= (n.-285T=) | |
2 | g.96253891A>C | CA347651743 | TMEM127 | c.634T>G (p.Ser212Ala) c.382T>G (p.Ser128Ala) c.-285T>G (n.-285T>G) | |
2 | g.96253891A>G | CA347651747 | TMEM127 | c.634T>C (p.Ser212Pro) c.382T>C (p.Ser128Pro) c.-285T>C (n.-285T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.96253891A>T | CA1777266 | TMEM127 | c.634T>A (p.Ser212Thr) c.382T>A (p.Ser128Thr) c.-285T>A (n.-285T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253892G>A | CA1777267 | TMEM127 | c.633C>T (p.Leu211=) c.381C>T (p.Leu127=) c.-286C>T (n.-286C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253892G>C | CA427807786 | TMEM127 | c.633C>G (p.Leu211=) c.381C>G (p.Leu127=) c.-286C>G (n.-286C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253892G= | CA1272522048 | TMEM127 | c.633C= (p.Leu211=) c.381C= (p.Leu127=) c.-286C= (n.-286C=) | |
2 | g.96253892G>T | CA427807787 | TMEM127 | c.633C>A (p.Leu211=) c.381C>A (p.Leu127=) c.-286C>A (n.-286C>A) | |
2 | g.96253893A>C | CA347651759 | TMEM127 | c.632T>G (p.Leu211Arg) c.380T>G (p.Leu127Arg) c.-287T>G (n.-287T>G) | |
2 | g.96253893A>G | CA347651775 | TMEM127 | c.632T>C (p.Leu211Pro) c.380T>C (p.Leu127Pro) c.-287T>C (n.-287T>C) | dbSNP |
2 | g.96253893A>T | CA347651779 | TMEM127 | c.632T>A (p.Leu211His) c.380T>A (p.Leu127His) c.-287T>A (n.-287T>A) | dbSNP |
2 | g.96253894G>A | CA347651823 | TMEM127 | c.631C>T (p.Leu211Phe) c.379C>T (p.Leu127Phe) c.-288C>T (n.-288C>T) | ClinVar dbSNP |
2 | g.96253894G>C | CA347651813 | TMEM127 | c.631C>G (p.Leu211Val) c.379C>G (p.Leu127Val) c.-288C>G (n.-288C>G) | dbSNP |
2 | g.96253894G>T | CA347651793 | TMEM127 | c.631C>A (p.Leu211Ile) c.379C>A (p.Leu127Ile) c.-288C>A (n.-288C>A) | |
2 | g.96253895C>A | CA427807791 | TMEM127 | c.630G>T (p.Leu210=) c.378G>T (p.Leu126=) c.-289G>T (n.-289G>T) | ClinVar |
2 | g.96253895C= | CA1272522049 | TMEM127 | c.630G= (p.Leu210=) c.378G= (p.Leu126=) c.-289G= (n.-289G=) | |
2 | g.96253895C>G | CA427807792 | TMEM127 | c.630G>C (p.Leu210=) c.378G>C (p.Leu126=) c.-289G>C (n.-289G>C) | ClinVar dbSNP |
2 | g.96253895C>T | CA427807793 | TMEM127 | c.630G>A (p.Leu210=) c.378G>A (p.Leu126=) c.-289G>A (n.-289G>A) | ClinVar dbSNP |
2 | g.96253896A>C | CA347651825 | TMEM127 | c.629T>G (p.Leu210Arg) c.377T>G (p.Leu126Arg) c.-290T>G (n.-290T>G) | |
2 | g.96253896A>G | CA347651827 | TMEM127 | c.629T>C (p.Leu210Pro) c.377T>C (p.Leu126Pro) c.-290T>C (n.-290T>C) | dbSNP |
2 | g.96253896A>T | CA347651828 | TMEM127 | c.629T>A (p.Leu210Gln) c.377T>A (p.Leu126Gln) c.-290T>A (n.-290T>A) | dbSNP |
2 | g.96253897G>A | CA427807797 | TMEM127 | c.628C>T (p.Leu210=) c.376C>T (p.Leu126=) c.-291C>T (n.-291C>T) | dbSNP |
2 | g.96253897G>C | CA347651830 | TMEM127 | c.628C>G (p.Leu210Val) c.376C>G (p.Leu126Val) c.-291C>G (n.-291C>G) | dbSNP |
2 | g.96253897G>T | CA347651833 | TMEM127 | c.628C>A (p.Leu210Met) c.376C>A (p.Leu126Met) c.-291C>A (n.-291C>A) | |
2 | g.96253898C>A | CA347651844 | TMEM127 | c.627G>T (p.Glu209Asp) c.375G>T (p.Glu125Asp) c.-292G>T (n.-292G>T) | |
2 | g.96253898C>G | CA347651848 | TMEM127 | c.627G>C (p.Glu209Asp) c.375G>C (p.Glu125Asp) c.-292G>C (n.-292G>C) | dbSNP |
2 | g.96253898C>T | CA427807798 | TMEM127 | c.627G>A (p.Glu209=) c.375G>A (p.Glu125=) c.-292G>A (n.-292G>A) | ClinVar dbSNP |
2 | g.96253899T>A | CA347651853 | TMEM127 | c.626A>T (p.Glu209Val) c.374A>T (p.Glu125Val) c.-293A>T (n.-293A>T) | ClinVar dbSNP gnomAD v4 |
2 | g.96253899T>C | CA347651854 | TMEM127 | c.626A>G (p.Glu209Gly) c.374A>G (p.Glu125Gly) c.-293A>G (n.-293A>G) | dbSNP |
2 | g.96253899T>G | CA347651855 | TMEM127 | c.626A>C (p.Glu209Ala) c.374A>C (p.Glu125Ala) c.-293A>C (n.-293A>C) | |
2 | g.96253899T= | CA1272522050 | TMEM127 | c.626A= (p.Glu209=) c.374A= (p.Glu125=) c.-293A= (n.-293A=) | |
2 | g.96253900C>A | CA347651856 | TMEM127 | c.625G>T (p.Glu209Ter) c.373G>T (p.Glu125Ter) c.-294G>T (n.-294G>T) | |
2 | g.96253900C>G | CA347651857 | TMEM127 | c.625G>C (p.Glu209Gln) c.373G>C (p.Glu125Gln) c.-294G>C (n.-294G>C) | dbSNP |
2 | g.96253900C>T | CA347651858 | TMEM127 | c.625G>A (p.Glu209Lys) c.373G>A (p.Glu125Lys) c.-294G>A (n.-294G>A) | dbSNP gnomAD v4 |
2 | g.96253903_96254383del | CA2573135942 | TMEM127 | c.410-265_625del c.158-265_373del c.-509-265_-294del | ClinVar dbSNP |
2 | g.96253901C>A | CA427807804 | TMEM127 | c.624G>T (p.Leu208=) c.372G>T (p.Leu124=) c.-295G>T (n.-295G>T) | |
2 | g.96253901C>G | CA427807805 | TMEM127 | c.624G>C (p.Leu208=) c.372G>C (p.Leu124=) c.-295G>C (n.-295G>C) | |
2 | g.96253901C>T | CA427807807 | TMEM127 | c.624G>A (p.Leu208=) c.372G>A (p.Leu124=) c.-295G>A (n.-295G>A) | ClinVar |
2 | g.96253902A>C | CA347651860 | TMEM127 | c.623T>G (p.Leu208Arg) c.371T>G (p.Leu124Arg) c.-296T>G (n.-296T>G) | dbSNP |
2 | g.96253902A>G | CA347651869 | TMEM127 | c.623T>C (p.Leu208Pro) c.371T>C (p.Leu124Pro) c.-296T>C (n.-296T>C) | dbSNP |
2 | g.96253902A>T | CA347651866 | TMEM127 | c.623T>A (p.Leu208Gln) c.371T>A (p.Leu124Gln) c.-296T>A (n.-296T>A) | dbSNP |
2 | g.96253903G>A | CA427807808 | TMEM127 | c.622C>T (p.Leu208=) c.370C>T (p.Leu124=) c.-297C>T (n.-297C>T) | |
2 | g.96253903G>C | CA347651871 | TMEM127 | c.622C>G (p.Leu208Val) c.370C>G (p.Leu124Val) c.-297C>G (n.-297C>G) | |
2 | g.96253903G>T | CA347651872 | TMEM127 | c.622C>A (p.Leu208Met) c.370C>A (p.Leu124Met) c.-297C>A (n.-297C>A) | |
2 | g.96253904C>A | CA427807809 | TMEM127 | c.621G>T (p.Ala207=) c.369G>T (p.Ala123=) c.-298G>T (n.-298G>T) | dbSNP |
2 | g.96253904C= | CA1272522051 | TMEM127 | c.621G= (p.Ala207=) c.369G= (p.Ala123=) c.-298G= (n.-298G=) | |
2 | g.96253904C>G | CA427807810 | TMEM127 | c.621G>C (p.Ala207=) c.369G>C (p.Ala123=) c.-298G>C (n.-298G>C) | ClinVar dbSNP |
2 | g.96253904C>T | CA137109 | TMEM127 | c.621G>A (p.Ala207=) c.369G>A (p.Ala123=) c.-298G>A (n.-298G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253905G>A | CA1777268 | TMEM127 | c.620C>T (p.Ala207Val) c.368C>T (p.Ala123Val) c.-299C>T (n.-299C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.96253905G>C | CA347651877 | TMEM127 | c.620C>G (p.Ala207Gly) c.368C>G (p.Ala123Gly) c.-299C>G (n.-299C>G) | |
2 | g.96253905G= | CA1272522052 | TMEM127 | c.620C= (p.Ala207=) c.368C= (p.Ala123=) c.-299C= (n.-299C=) | |
2 | g.96253905G>T | CA347651878 | TMEM127 | c.620C>A (p.Ala207Glu) c.368C>A (p.Ala123Glu) c.-299C>A (n.-299C>A) | dbSNP |
2 | g.96253906C>A | CA347651879 | TMEM127 | c.619G>T (p.Ala207Ser) c.367G>T (p.Ala123Ser) c.-300G>T (n.-300G>T) | |
2 | g.96253906C= | CA1272522053 | TMEM127 | c.619G= (p.Ala207=) c.367G= (p.Ala123=) c.-300G= (n.-300G=) | |
2 | g.96253906C>G | CA347651882 | TMEM127 | c.619G>C (p.Ala207Pro) c.367G>C (p.Ala123Pro) c.-300G>C (n.-300G>C) | |
2 | g.96253906C>T | CA1777269 | TMEM127 | c.619G>A (p.Ala207Thr) c.367G>A (p.Ala123Thr) c.-300G>A (n.-300G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253907C>A | CA347651893 | TMEM127 | c.618G>T (p.Gln206His) c.366G>T (p.Gln122His) c.-301G>T (n.-301G>T) | |
2 | g.96253907C>G | CA347651896 | TMEM127 | c.618G>C (p.Gln206His) c.366G>C (p.Gln122His) c.-301G>C (n.-301G>C) | dbSNP |
2 | g.96253907C>T | CA427807817 | TMEM127 | c.618G>A (p.Gln206=) c.366G>A (p.Gln122=) c.-301G>A (n.-301G>A) | ClinVar dbSNP |
2 | g.96253908T>A | CA347651903 | TMEM127 | c.617A>T (p.Gln206Leu) c.365A>T (p.Gln122Leu) c.-302A>T (n.-302A>T) | dbSNP |
2 | g.96253908T>C | CA347651908 | TMEM127 | c.617A>G (p.Gln206Arg) c.365A>G (p.Gln122Arg) c.-302A>G (n.-302A>G) | dbSNP |
2 | g.96253908T>G | CA347651910 | TMEM127 | c.617A>C (p.Gln206Pro) c.365A>C (p.Gln122Pro) c.-302A>C (n.-302A>C) | |
2 | g.96253909G>A | CA347651913 | TMEM127 | c.616C>T (p.Gln206Ter) c.364C>T (p.Gln122Ter) c.-303C>T (n.-303C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.96253909G>C | CA347651914 | TMEM127 | c.616C>G (p.Gln206Glu) c.364C>G (p.Gln122Glu) c.-303C>G (n.-303C>G) | dbSNP |
2 | g.96253909G= | CA1272522054 | TMEM127 | c.616C= (p.Gln206=) c.364C= (p.Gln122=) c.-303C= (n.-303C=) | |
2 | g.96253909G>T | CA347651917 | TMEM127 | c.616C>A (p.Gln206Lys) c.364C>A (p.Gln122Lys) c.-303C>A (n.-303C>A) | ClinVar dbSNP |
2 | g.96253910C>A | CA347651918 | TMEM127 | c.615G>T (p.Glu205Asp) c.363G>T (p.Glu121Asp) c.-304G>T (n.-304G>T) | |
2 | g.96253910C= | CA1272522055 | TMEM127 | c.615G= (p.Glu205=) c.363G= (p.Glu121=) c.-304G= (n.-304G=) | |
2 | g.96253910C>G | CA347651919 | TMEM127 | c.615G>C (p.Glu205Asp) c.363G>C (p.Glu121Asp) c.-304G>C (n.-304G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253910C>T | CA427807822 | TMEM127 | c.615G>A (p.Glu205=) c.363G>A (p.Glu121=) c.-304G>A (n.-304G>A) | ClinVar gnomAD v4 |
2 | g.96253911T>A | CA347651920 | TMEM127 | c.614A>T (p.Glu205Val) c.362A>T (p.Glu121Val) c.-305A>T (n.-305A>T) | |
2 | g.96253911T>C | CA347651926 | TMEM127 | c.614A>G (p.Glu205Gly) c.362A>G (p.Glu121Gly) c.-305A>G (n.-305A>G) | |
2 | g.96253911T>G | CA347651922 | TMEM127 | c.614A>C (p.Glu205Ala) c.362A>C (p.Glu121Ala) c.-305A>C (n.-305A>C) | |
2 | g.96253911_96253912delinsTC | CA1272522056 | TMEM127 | c.613_614delinsGA (p.Glu205=) c.361_362delinsGA (p.Glu121=) c.-306_-305delinsGA (n.-306_-305delinsGA) | |
2 | g.96253912C>A | CA347651934 | TMEM127 | c.613G>T (p.Glu205Ter) c.361G>T (p.Glu121Ter) c.-306G>T (n.-306G>T) | ClinVar dbSNP |
2 | g.96253912C= | CA1272522057 | TMEM127 | c.613G= (p.Glu205=) c.361G= (p.Glu121=) c.-306G= (n.-306G=) | |
2 | g.96253912C>G | CA347651935 | TMEM127 | c.613G>C (p.Glu205Gln) c.361G>C (p.Glu121Gln) c.-306G>C (n.-306G>C) | dbSNP |
2 | g.96253912C>T | CA347651936 | TMEM127 | c.613G>A (p.Glu205Lys) c.361G>A (p.Glu121Lys) c.-306G>A (n.-306G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.96253913del | CA1139655614 | TMEM127 | c.613del (p.Glu205SerfsTer?) c.361del (p.Glu121SerfsTer?) c.-306del (n.-306del) | ClinVar dbSNP gnomAD v4 |
2 | g.96253913C>A | CA347651937 | TMEM127 | c.612G>T (p.Glu204Asp) c.360G>T (p.Glu120Asp) c.-307G>T (n.-307G>T) | |
2 | g.96253913C= | CA1272522058 | TMEM127 | c.612G= (p.Glu204=) c.360G= (p.Glu120=) c.-307G= (n.-307G=) | |
2 | g.96253913C>G | CA347651940 | TMEM127 | c.612G>C (p.Glu204Asp) c.360G>C (p.Glu120Asp) c.-307G>C (n.-307G>C) | ClinVar dbSNP gnomAD v4 |
2 | g.96253913C>T | CA427807825 | TMEM127 | c.612G>A (p.Glu204=) c.360G>A (p.Glu120=) c.-307G>A (n.-307G>A) | dbSNP gnomAD v4 |
2 | g.96253914del | CA2660177141 | TMEM127 | c.611del (p.Glu204GlyfsTer?) c.359del (p.Glu120GlyfsTer?) c.-308del (n.-308del) | gnomAD v4 |
2 | g.96253914T>A | CA347651943 | TMEM127 | c.611A>T (p.Glu204Val) c.359A>T (p.Glu120Val) c.-308A>T (n.-308A>T) | dbSNP |
2 | g.96253914T>C | CA347651946 | TMEM127 | c.611A>G (p.Glu204Gly) c.359A>G (p.Glu120Gly) c.-308A>G (n.-308A>G) | dbSNP |
2 | g.96253914T>G | CA347651947 | TMEM127 | c.611A>C (p.Glu204Ala) c.359A>C (p.Glu120Ala) c.-308A>C (n.-308A>C) | |
2 | g.96253915C>A | CA347651948 | TMEM127 | c.610G>T (p.Glu204Ter) c.358G>T (p.Glu120Ter) c.-309G>T (n.-309G>T) | |
2 | g.96253915C= | CA1272522059 | TMEM127 | c.610G= (p.Glu204=) c.358G= (p.Glu120=) c.-309G= (n.-309G=) | |
2 | g.96253915C>G | CA347651950 | TMEM127 | c.610G>C (p.Glu204Gln) c.358G>C (p.Glu120Gln) c.-309G>C (n.-309G>C) | dbSNP |
2 | g.96253915C>T | CA1777270 | TMEM127 | c.610G>A (p.Glu204Lys) c.358G>A (p.Glu120Lys) c.-309G>A (n.-309G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96253916T>A | CA347651965 | TMEM127 | c.609A>T (p.Glu203Asp) c.357A>T (p.Glu119Asp) c.-310A>T (n.-310A>T) | |
2 | g.96253916T>C | CA1777271 | TMEM127 | c.609A>G (p.Glu203=) c.357A>G (p.Glu119=) c.-310A>G (n.-310A>G) | ClinVar dbSNP ExAC |
2 | g.96253916T>G | CA347651953 | TMEM127 | c.609A>C (p.Glu203Asp) c.357A>C (p.Glu119Asp) c.-310A>C (n.-310A>C) | |
2 | g.96253916T= | CA1272522060 | TMEM127 | c.609A= (p.Glu203=) c.357A= (p.Glu119=) c.-310A= (n.-310A=) | |
2 | g.96253917T>A | CA347651975 | TMEM127 | c.608A>T (p.Glu203Val) c.356A>T (p.Glu119Val) c.-311A>T (n.-311A>T) | |
2 | g.96253917T>C | CA347651969 | TMEM127 | c.608A>G (p.Glu203Gly) c.356A>G (p.Glu119Gly) c.-311A>G (n.-311A>G) | dbSNP |
2 | g.96253917T>G | CA347651971 | TMEM127 | c.608A>C (p.Glu203Ala) c.356A>C (p.Glu119Ala) c.-311A>C (n.-311A>C) | ClinVar |
2 | g.96253918C>A | CA347651981 | TMEM127 | c.607G>T (p.Glu203Ter) c.355G>T (p.Glu119Ter) c.-312G>T (n.-312G>T) | dbSNP |
2 | g.96253918C>G | CA347651982 | TMEM127 | c.607G>C (p.Glu203Gln) c.355G>C (p.Glu119Gln) c.-312G>C (n.-312G>C) | dbSNP |
2 | g.96253918C>T | CA347651996 | TMEM127 | c.607G>A (p.Glu203Lys) c.355G>A (p.Glu119Lys) c.-312G>A (n.-312G>A) | ClinVar dbSNP |
2 | g.96253919C>A | CA52411971 | TMEM127 | c.606G>T (p.Glu202Asp) c.354G>T (p.Glu118Asp) c.-313G>T (n.-313G>T) | dbSNP |
2 | g.96253919C= | CA1272522061 | TMEM127 | c.606G= (p.Glu202=) c.354G= (p.Glu118=) c.-313G= (n.-313G=) | |
2 | g.96253919C>G | CA347652002 | TMEM127 | c.606G>C (p.Glu202Asp) c.354G>C (p.Glu118Asp) c.-313G>C (n.-313G>C) | dbSNP |
2 | g.96253919C>T | CA1777272 | TMEM127 | c.606G>A (p.Glu202=) c.354G>A (p.Glu118=) c.-313G>A (n.-313G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96253920T>A | CA347652007 | TMEM127 | c.605A>T (p.Glu202Val) c.353A>T (p.Glu118Val) c.-314A>T (n.-314A>T) | |
2 | g.96253920T>C | CA347652008 | TMEM127 | c.605A>G (p.Glu202Gly) c.353A>G (p.Glu118Gly) c.-314A>G (n.-314A>G) | ClinVar |
2 | g.96253920T>G | CA347652015 | TMEM127 | c.605A>C (p.Glu202Ala) c.353A>C (p.Glu118Ala) c.-314A>C (n.-314A>C) | |
2 | g.96253921C>A | CA347652017 | TMEM127 | c.604G>T (p.Glu202Ter) c.352G>T (p.Glu118Ter) c.-315G>T (n.-315G>T) | |
2 | g.96253921C= | CA1272522062 | TMEM127 | c.604G= (p.Glu202=) c.352G= (p.Glu118=) c.-315G= (n.-315G=) | |
2 | g.96253921C>G | CA347652018 | TMEM127 | c.604G>C (p.Glu202Gln) c.352G>C (p.Glu118Gln) c.-315G>C (n.-315G>C) | dbSNP |
2 | g.96253921C>T | CA347652022 | TMEM127 | c.604G>A (p.Glu202Lys) c.352G>A (p.Glu118Lys) c.-315G>A (n.-315G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.96253922T>A | CA427807834 | TMEM127 | c.603A>T (p.Thr201=) c.351A>T (p.Thr117=) c.-316A>T (n.-316A>T) | |
2 | g.96253922T>C | CA427807833 | TMEM127 | c.603A>G (p.Thr201=) c.351A>G (p.Thr117=) c.-316A>G (n.-316A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.96253922T>G | CA427807832 | TMEM127 | c.603A>C (p.Thr201=) c.351A>C (p.Thr117=) c.-316A>C (n.-316A>C) | ClinVar dbSNP |
2 | g.96253922T= | CA1272522063 | TMEM127 | c.603A= (p.Thr201=) c.351A= (p.Thr117=) c.-316A= (n.-316A=) | |
2 | g.96253923G>A | CA347652026 | TMEM127 | c.602C>T (p.Thr201Ile) c.350C>T (p.Thr117Ile) c.-317C>T (n.-317C>T) | dbSNP |
2 | g.96253923G>C | CA347652030 | TMEM127 | c.602C>G (p.Thr201Arg) c.350C>G (p.Thr117Arg) c.-317C>G (n.-317C>G) | dbSNP |
2 | g.96253923G>T | CA347652028 | TMEM127 | c.602C>A (p.Thr201Lys) c.350C>A (p.Thr117Lys) c.-317C>A (n.-317C>A) | |
2 | g.96253924T>A | CA347652033 | TMEM127 | c.601A>T (p.Thr201Ser) c.349A>T (p.Thr117Ser) c.-318A>T (n.-318A>T) | ClinVar dbSNP gnomAD v4 |
2 | g.96253924T>C | CA347652035 | TMEM127 | c.601A>G (p.Thr201Ala) c.349A>G (p.Thr117Ala) c.-318A>G (n.-318A>G) | ClinVar dbSNP |
2 | g.96253924T>G | CA347652036 | TMEM127 | c.601A>C (p.Thr201Pro) c.349A>C (p.Thr117Pro) c.-318A>C (n.-318A>C) | |
2 | g.96253924T= | CA1272522064 | TMEM127 | c.601A= (p.Thr201=) c.349A= (p.Thr117=) c.-318A= (n.-318A=) | |
2 | g.96253925G>A | CA427807836 | TMEM127 | c.600C>T (p.Pro200=) c.348C>T (p.Pro116=) c.-319C>T (n.-319C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.96253925G>C | CA427807837 | TMEM127 | c.600C>G (p.Pro200=) c.348C>G (p.Pro116=) c.-319C>G (n.-319C>G) | dbSNP gnomAD v4 |
2 | g.96253925G= | CA1272522065 | TMEM127 | c.600C= (p.Pro200=) c.348C= (p.Pro116=) c.-319C= (n.-319C=) | |
2 | g.96253925G>T | CA16611030 | TMEM127 | c.600C>A (p.Pro200=) c.348C>A (p.Pro116=) c.-319C>A (n.-319C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.96253926G>A | CA347652038 | TMEM127 | c.599C>T (p.Pro200Leu) c.347C>T (p.Pro116Leu) c.-320C>T (n.-320C>T) | |
2 | g.96253926G>C | CA347652041 | TMEM127 | c.599C>G (p.Pro200Arg) c.347C>G (p.Pro116Arg) c.-320C>G (n.-320C>G) | |
2 | g.96253926G>T | CA347652046 | TMEM127 | c.599C>A (p.Pro200His) c.347C>A (p.Pro116His) c.-320C>A (n.-320C>A) | |
2 | g.96253927G>A | CA52411978 | TMEM127 | c.598C>T (p.Pro200Ser) c.346C>T (p.Pro116Ser) c.-321C>T (n.-321C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253927G>C | CA347652050 | TMEM127 | c.598C>G (p.Pro200Ala) c.346C>G (p.Pro116Ala) c.-321C>G (n.-321C>G) | dbSNP |
2 | g.96253927G= | CA1272522066 | TMEM127 | c.598C= (p.Pro200=) c.346C= (p.Pro116=) c.-321C= (n.-321C=) | |
2 | g.96253927G>T | CA1777273 | TMEM127 | c.598C>A (p.Pro200Thr) c.346C>A (p.Pro116Thr) c.-321C>A (n.-321C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253928G>A | CA427807839 | TMEM127 | c.597C>T (p.Tyr199=) c.345C>T (p.Tyr115=) c.-322C>T (n.-322C>T) | ClinVar dbSNP |
2 | g.96253928G>C | CA347652051 | TMEM127 | c.597C>G (p.Tyr199Ter) c.345C>G (p.Tyr115Ter) c.-322C>G (n.-322C>G) | |
2 | g.96253928G= | CA1272522067 | TMEM127 | c.597C= (p.Tyr199=) c.345C= (p.Tyr115=) c.-322C= (n.-322C=) | |
2 | g.96253928G>T | CA347652052 | TMEM127 | c.597C>A (p.Tyr199Ter) c.345C>A (p.Tyr115Ter) c.-322C>A (n.-322C>A) | ClinVar dbSNP |
2 | g.96253929T>A | CA347652057 | TMEM127 | c.596A>T (p.Tyr199Phe) c.344A>T (p.Tyr115Phe) c.-323A>T (n.-323A>T) | ClinVar dbSNP |
2 | g.96253929T>C | CA347652072 | TMEM127 | c.596A>G (p.Tyr199Cys) c.344A>G (p.Tyr115Cys) c.-323A>G (n.-323A>G) | dbSNP |
2 | g.96253929T>G | CA347652054 | TMEM127 | c.596A>C (p.Tyr199Ser) c.344A>C (p.Tyr115Ser) c.-323A>C (n.-323A>C) | dbSNP |
2 | g.96253929T= | CA1272522068 | TMEM127 | c.596A= (p.Tyr199=) c.344A= (p.Tyr115=) c.-323A= (n.-323A=) | |
2 | g.96253930A>C | CA347652083 | TMEM127 | c.595T>G (p.Tyr199Asp) c.343T>G (p.Tyr115Asp) c.-324T>G (n.-324T>G) | |
2 | g.96253930A>G | CA347652086 | TMEM127 | c.595T>C (p.Tyr199His) c.343T>C (p.Tyr115His) c.-324T>C (n.-324T>C) | dbSNP |
2 | g.96253930A>T | CA347652085 | TMEM127 | c.595T>A (p.Tyr199Asn) c.343T>A (p.Tyr115Asn) c.-324T>A (n.-324T>A) | dbSNP |
2 | g.96253931G>A | CA427807841 | TMEM127 | c.594C>T (p.His198=) c.342C>T (p.His114=) c.-325C>T (n.-325C>T) | dbSNP |
2 | g.96253931G>C | CA347652088 | TMEM127 | c.594C>G (p.His198Gln) c.342C>G (p.His114Gln) c.-325C>G (n.-325C>G) | ClinVar dbSNP |
2 | g.96253931G>T | CA347652089 | TMEM127 | c.594C>A (p.His198Gln) c.342C>A (p.His114Gln) c.-325C>A (n.-325C>A) | |
2 | g.96253932T>A | CA347652092 | TMEM127 | c.593A>T (p.His198Leu) c.341A>T (p.His114Leu) c.-326A>T (n.-326A>T) | |
2 | g.96253932T>C | CA347652095 | TMEM127 | c.593A>G (p.His198Arg) c.341A>G (p.His114Arg) c.-326A>G (n.-326A>G) | ClinVar |
2 | g.96253932T>G | CA347652098 | TMEM127 | c.593A>C (p.His198Pro) c.341A>C (p.His114Pro) c.-326A>C (n.-326A>C) | |
2 | g.96253933G>A | CA347652102 | TMEM127 | c.592C>T (p.His198Tyr) c.340C>T (p.His114Tyr) c.-327C>T (n.-327C>T) | |
2 | g.96253933G>C | CA347652123 | TMEM127 | c.592C>G (p.His198Asp) c.340C>G (p.His114Asp) c.-327C>G (n.-327C>G) | |
2 | g.96253933G>T | CA347652127 | TMEM127 | c.592C>A (p.His198Asn) c.340C>A (p.His114Asn) c.-327C>A (n.-327C>A) | |
2 | g.96253934G>A | CA427807845 | TMEM127 | c.591C>T (p.Arg197=) c.339C>T (p.Arg113=) c.-328C>T (n.-328C>T) | ClinVar dbSNP |
2 | g.96253934G>C | CA427807846 | TMEM127 | c.591C>G (p.Arg197=) c.339C>G (p.Arg113=) c.-328C>G (n.-328C>G) | dbSNP |
2 | g.96253934G>T | CA427807847 | TMEM127 | c.591C>A (p.Arg197=) c.339C>A (p.Arg113=) c.-328C>A (n.-328C>A) | dbSNP |
2 | g.96253935C>A | CA347652137 | TMEM127 | c.590G>T (p.Arg197Leu) c.338G>T (p.Arg113Leu) c.-329G>T (n.-329G>T) | dbSNP |
2 | g.96253935C= | CA1272522069 | TMEM127 | c.590G= (p.Arg197=) c.338G= (p.Arg113=) c.-329G= (n.-329G=) | |
2 | g.96253935C>G | CA347652139 | TMEM127 | c.590G>C (p.Arg197Pro) c.338G>C (p.Arg113Pro) c.-329G>C (n.-329G>C) | dbSNP |
2 | g.96253935C>T | CA347652142 | TMEM127 | c.590G>A (p.Arg197His) c.338G>A (p.Arg113His) c.-329G>A (n.-329G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.96253936G>A | CA1777274 | TMEM127 | c.589C>T (p.Arg197Cys) c.337C>T (p.Arg113Cys) c.-330C>T (n.-330C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.96253936G>C | CA347652148 | TMEM127 | c.589C>G (p.Arg197Gly) c.337C>G (p.Arg113Gly) c.-330C>G (n.-330C>G) | dbSNP |
2 | g.96253936G= | CA1272522070 | TMEM127 | c.589C= (p.Arg197=) c.337C= (p.Arg113=) c.-330C= (n.-330C=) | |
2 | g.96253936G>T | CA347652146 | TMEM127 | c.589C>A (p.Arg197Ser) c.337C>A (p.Arg113Ser) c.-330C>A (n.-330C>A) | dbSNP |
2 | g.96253937C>A | CA427807849 | TMEM127 | c.588G>T (p.Leu196=) c.336G>T (p.Leu112=) c.-331G>T (n.-331G>T) | gnomAD v4 |
2 | g.96253937C= | CA1272522071 | TMEM127 | c.588G= (p.Leu196=) c.336G= (p.Leu112=) c.-331G= (n.-331G=) | |
2 | g.96253937C>G | CA427807850 | TMEM127 | c.588G>C (p.Leu196=) c.336G>C (p.Leu112=) c.-331G>C (n.-331G>C) | dbSNP gnomAD v4 |
2 | g.96253937C>T | CA427807852 | TMEM127 | c.588G>A (p.Leu196=) c.336G>A (p.Leu112=) c.-331G>A (n.-331G>A) | ClinVar dbSNP |
2 | g.96253938A= | CA1272522072 | TMEM127 | c.587T= (p.Leu196=) c.335T= (p.Leu112=) c.-332T= (n.-332T=) | |
2 | g.96253938A>C | CA347652163 | TMEM127 | c.587T>G (p.Leu196Arg) c.335T>G (p.Leu112Arg) c.-332T>G (n.-332T>G) | ClinVar dbSNP |
2 | g.96253938A>G | CA347652165 | TMEM127 | c.587T>C (p.Leu196Pro) c.335T>C (p.Leu112Pro) c.-332T>C (n.-332T>C) | dbSNP gnomAD v4 |
2 | g.96253938A>T | CA347652168 | TMEM127 | c.587T>A (p.Leu196Gln) c.335T>A (p.Leu112Gln) c.-332T>A (n.-332T>A) | dbSNP |
2 | g.96253939G>A | CA427807855 | TMEM127 | c.586C>T (p.Leu196=) c.334C>T (p.Leu112=) c.-333C>T (n.-333C>T) | ClinVar dbSNP |
2 | g.96253939G>C | CA347652172 | TMEM127 | c.586C>G (p.Leu196Val) c.334C>G (p.Leu112Val) c.-333C>G (n.-333C>G) | dbSNP |
2 | g.96253939G>T | CA347652175 | TMEM127 | c.586C>A (p.Leu196Met) c.334C>A (p.Leu112Met) c.-333C>A (n.-333C>A) | |
2 | g.96253940G>A | CA1777275 | TMEM127 | c.585C>T (p.Leu195=) c.333C>T (p.Leu111=) c.-334C>T (n.-334C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253940G>C | CA427807857 | TMEM127 | c.585C>G (p.Leu195=) c.333C>G (p.Leu111=) c.-334C>G (n.-334C>G) | dbSNP |
2 | g.96253940G= | CA1272522073 | TMEM127 | c.585C= (p.Leu195=) c.333C= (p.Leu111=) c.-334C= (n.-334C=) | |
2 | g.96253940G>T | CA427807856 | TMEM127 | c.585C>A (p.Leu195=) c.333C>A (p.Leu111=) c.-334C>A (n.-334C>A) | |
2 | g.96253941A= | CA1272522075 | TMEM127 | c.584T= (p.Leu195=) c.332T= (p.Leu111=) c.-335T= (n.-335T=) | |
2 | g.96253941A>C | CA347652180 | TMEM127 | c.584T>G (p.Leu195Arg) c.332T>G (p.Leu111Arg) c.-335T>G (n.-335T>G) | ClinVar dbSNP |
2 | g.96253941A>G | CA347652184 | TMEM127 | c.584T>C (p.Leu195Pro) c.332T>C (p.Leu111Pro) c.-335T>C (n.-335T>C) | ClinVar dbSNP gnomAD v4 |
2 | g.96253941A>T | CA347652188 | TMEM127 | c.584T>A (p.Leu195His) c.332T>A (p.Leu111His) c.-335T>A (n.-335T>A) | dbSNP |
2 | g.96253941_96253946delinsAGGTTG | CA1272522074 | TMEM127 | c.579_584delinsCAACCT (p.Ala193=) c.327_332delinsCAACCT (p.Ala109=) c.-340_-335delinsCAACCT (n.-340_-335delinsCAACCT) | |
2 | g.96253942G>A | CA347652193 | TMEM127 | c.583C>T (p.Leu195Phe) c.331C>T (p.Leu111Phe) c.-336C>T (n.-336C>T) | ClinVar dbSNP |
2 | g.96253942G>C | CA347652195 | TMEM127 | c.583C>G (p.Leu195Val) c.331C>G (p.Leu111Val) c.-336C>G (n.-336C>G) | |
2 | g.96253942G>T | CA347652204 | TMEM127 | c.583C>A (p.Leu195Ile) c.331C>A (p.Leu111Ile) c.-336C>A (n.-336C>A) | |
2 | g.96253943_96253947del | CA916602735 | TMEM127 | c.579_583del (p.Asn194ProfsTer?) c.327_331del (p.Asn110ProfsTer?) c.-340_-336del (n.-340_-336del) | dbSNP |
2 | g.96253943G>A | CA427807863 | TMEM127 | c.582C>T (p.Asn194=) c.330C>T (p.Asn110=) c.-337C>T (n.-337C>T) | ClinVar dbSNP |
2 | g.96253943G>C | CA347652207 | TMEM127 | c.582C>G (p.Asn194Lys) c.330C>G (p.Asn110Lys) c.-337C>G (n.-337C>G) | |
2 | g.96253943G>T | CA347652210 | TMEM127 | c.582C>A (p.Asn194Lys) c.330C>A (p.Asn110Lys) c.-337C>A (n.-337C>A) | gnomAD v4 |
2 | g.96253944T>A | CA347652213 | TMEM127 | c.581A>T (p.Asn194Ile) c.329A>T (p.Asn110Ile) c.-338A>T (n.-338A>T) | dbSNP |
2 | g.96253944T>C | CA347652216 | TMEM127 | c.581A>G (p.Asn194Ser) c.329A>G (p.Asn110Ser) c.-338A>G (n.-338A>G) | dbSNP |
2 | g.96253944T>G | CA347652219 | TMEM127 | c.581A>C (p.Asn194Thr) c.329A>C (p.Asn110Thr) c.-338A>C (n.-338A>C) | dbSNP |
2 | g.96253944T= | CA1272522076 | TMEM127 | c.581A= (p.Asn194=) c.329A= (p.Asn110=) c.-338A= (n.-338A=) | |
2 | g.96253945T>A | CA347652223 | TMEM127 | c.580A>T (p.Asn194Tyr) c.328A>T (p.Asn110Tyr) c.-339A>T (n.-339A>T) | |
2 | g.96253945T>C | CA347652224 | TMEM127 | c.580A>G (p.Asn194Asp) c.328A>G (p.Asn110Asp) c.-339A>G (n.-339A>G) | dbSNP |
2 | g.96253945T>G | CA347652227 | TMEM127 | c.580A>C (p.Asn194His) c.328A>C (p.Asn110His) c.-339A>C (n.-339A>C) | |
2 | g.96253946G>A | CA427807869 | TMEM127 | c.579C>T (p.Ala193=) c.327C>T (p.Ala109=) c.-340C>T (n.-340C>T) | |
2 | g.96253946G>C | CA427807865 | TMEM127 | c.579C>G (p.Ala193=) c.327C>G (p.Ala109=) c.-340C>G (n.-340C>G) | |
2 | g.96253946G>T | CA427807867 | TMEM127 | c.579C>A (p.Ala193=) c.327C>A (p.Ala109=) c.-340C>A (n.-340C>A) | dbSNP gnomAD v4 |
2 | g.96253947G>A | CA347652230 | TMEM127 | c.578C>T (p.Ala193Val) c.326C>T (p.Ala109Val) c.-341C>T (n.-341C>T) | dbSNP |
2 | g.96253947G>C | CA347652238 | TMEM127 | c.578C>G (p.Ala193Gly) c.326C>G (p.Ala109Gly) c.-341C>G (n.-341C>G) | dbSNP |
2 | g.96253947G>T | CA347652241 | TMEM127 | c.578C>A (p.Ala193Asp) c.326C>A (p.Ala109Asp) c.-341C>A (n.-341C>A) | dbSNP |
2 | g.96253948C>A | CA347652244 | TMEM127 | c.577G>T (p.Ala193Ser) c.325G>T (p.Ala109Ser) c.-342G>T (n.-342G>T) | dbSNP |
2 | g.96253948C= | CA1272522077 | TMEM127 | c.577G= (p.Ala193=) c.325G= (p.Ala109=) c.-342G= (n.-342G=) | |
2 | g.96253948C>G | CA347652245 | TMEM127 | c.577G>C (p.Ala193Pro) c.325G>C (p.Ala109Pro) c.-342G>C (n.-342G>C) | dbSNP |
2 | g.96253948C>T | CA347652262 | TMEM127 | c.577G>A (p.Ala193Thr) c.325G>A (p.Ala109Thr) c.-342G>A (n.-342G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253949T>A | CA427807872 | TMEM127 | c.576A>T (p.Ala192=) c.324A>T (p.Ala108=) c.-343A>T (n.-343A>T) | dbSNP |
2 | g.96253949T>C | CA427807873 | TMEM127 | c.576A>G (p.Ala192=) c.324A>G (p.Ala108=) c.-343A>G (n.-343A>G) | |
2 | g.96253949T>G | CA427807874 | TMEM127 | c.576A>C (p.Ala192=) c.324A>C (p.Ala108=) c.-343A>C (n.-343A>C) | |
2 | g.96253950G>A | CA347652270 | TMEM127 | c.575C>T (p.Ala192Val) c.323C>T (p.Ala108Val) c.-344C>T (n.-344C>T) | ClinVar dbSNP |
2 | g.96253950G>C | CA347652268 | TMEM127 | c.575C>G (p.Ala192Gly) c.323C>G (p.Ala108Gly) c.-344C>G (n.-344C>G) | dbSNP |
2 | g.96253950G>T | CA347652265 | TMEM127 | c.575C>A (p.Ala192Glu) c.323C>A (p.Ala108Glu) c.-344C>A (n.-344C>A) | dbSNP |
2 | g.96253951C>A | CA347652271 | TMEM127 | c.574G>T (p.Ala192Ser) c.322G>T (p.Ala108Ser) c.-345G>T (n.-345G>T) | ClinVar dbSNP |
2 | g.96253951C>G | CA347652275 | TMEM127 | c.574G>C (p.Ala192Pro) c.322G>C (p.Ala108Pro) c.-345G>C (n.-345G>C) | dbSNP |
2 | g.96253951C>T | CA347652284 | TMEM127 | c.574G>A (p.Ala192Thr) c.322G>A (p.Ala108Thr) c.-345G>A (n.-345G>A) | dbSNP gnomAD v4 |
2 | g.96253952C>A | CA427807880 | TMEM127 | c.573G>T (p.Thr191=) c.321G>T (p.Thr107=) c.-346G>T (n.-346G>T) | dbSNP |
2 | g.96253952C= | CA1272522078 | TMEM127 | c.573G= (p.Thr191=) c.321G= (p.Thr107=) c.-346G= (n.-346G=) | |
2 | g.96253952C>G | CA427807879 | TMEM127 | c.573G>C (p.Thr191=) c.321G>C (p.Thr107=) c.-346G>C (n.-346G>C) | dbSNP |
2 | g.96253952C>T | CA1777276 | TMEM127 | c.573G>A (p.Thr191=) c.321G>A (p.Thr107=) c.-346G>A (n.-346G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253953del | CA2586964985 | TMEM127 | c.572del (p.Thr191ArgfsTer?) c.320del (p.Thr107ArgfsTer?) c.-347del (n.-347del) | |
2 | g.96253953G>A | CA1777277 | TMEM127 | c.572C>T (p.Thr191Met) c.320C>T (p.Thr107Met) c.-347C>T (n.-347C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253953G>C | CA347652298 | TMEM127 | c.572C>G (p.Thr191Arg) c.320C>G (p.Thr107Arg) c.-347C>G (n.-347C>G) | dbSNP |
2 | g.96253953G= | CA1272522079 | TMEM127 | c.572C= (p.Thr191=) c.320C= (p.Thr107=) c.-347C= (n.-347C=) | |
2 | g.96253953G>T | CA347652299 | TMEM127 | c.572C>A (p.Thr191Lys) c.320C>A (p.Thr107Lys) c.-347C>A (n.-347C>A) | |
2 | g.96253954_96253977dup | CA2580068313 | TMEM127 | c.549_572dup (p.Thr191_Ala192insGlyGlyAlaSerIleLeuAlaThr) c.297_320dup (p.Thr107_Ala108insGlyGlyAlaSerIleLeuAlaThr) c.-370_-347dup (n.-370_-347dup) | ClinVar |
2 | g.96253954T>A | CA347652300 | TMEM127 | c.571A>T (p.Thr191Ser) c.319A>T (p.Thr107Ser) c.-348A>T (n.-348A>T) | dbSNP |
2 | g.96253954T>C | CA347652302 | TMEM127 | c.571A>G (p.Thr191Ala) c.319A>G (p.Thr107Ala) c.-348A>G (n.-348A>G) | |
2 | g.96253954T>G | CA347652304 | TMEM127 | c.571A>C (p.Thr191Pro) c.319A>C (p.Thr107Pro) c.-348A>C (n.-348A>C) | |
2 | g.96253954_96253955delinsTG | CA1272522080 | TMEM127 | c.570_571delinsCA (p.Ala190=) c.318_319delinsCA (p.Ala106=) c.-349_-348delinsCA (n.-349_-348delinsCA) | |
2 | g.96253955G>A | CA427807953 | TMEM127 | c.570C>T (p.Ala190=) c.318C>T (p.Ala106=) c.-349C>T (n.-349C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.96253955G>C | CA427807955 | TMEM127 | c.570C>G (p.Ala190=) c.318C>G (p.Ala106=) c.-349C>G (n.-349C>G) | |
2 | g.96253955G= | CA1272522081 | TMEM127 | c.570C= (p.Ala190=) c.318C= (p.Ala106=) c.-349C= (n.-349C=) | |
2 | g.96253955G>T | CA427807958 | TMEM127 | c.570C>A (p.Ala190=) c.318C>A (p.Ala106=) c.-349C>A (n.-349C>A) | |
2 | g.96253956del | CA534634931 | TMEM127 | c.570del (p.Thr191ArgfsTer?) c.318del (p.Thr107ArgfsTer?) c.-349del (n.-349del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.96253956G>A | CA347652307 | TMEM127 | c.569C>T (p.Ala190Val) c.317C>T (p.Ala106Val) c.-350C>T (n.-350C>T) | ClinVar |
2 | g.96253956G>C | CA347652310 | TMEM127 | c.569C>G (p.Ala190Gly) c.317C>G (p.Ala106Gly) c.-350C>G (n.-350C>G) | ClinVar dbSNP |
2 | g.96253956G>T | CA347652316 | TMEM127 | c.569C>A (p.Ala190Asp) c.317C>A (p.Ala106Asp) c.-350C>A (n.-350C>A) | ClinVar |
2 | g.96253957C>A | CA347652323 | TMEM127 | c.568G>T (p.Ala190Ser) c.316G>T (p.Ala106Ser) c.-351G>T (n.-351G>T) | dbSNP |
2 | g.96253957C= | CA1272522082 | TMEM127 | c.568G= (p.Ala190=) c.316G= (p.Ala106=) c.-351G= (n.-351G=) | |
2 | g.96253957C>G | CA1777278 | TMEM127 | c.568G>C (p.Ala190Pro) c.316G>C (p.Ala106Pro) c.-351G>C (n.-351G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253957C>T | CA347652319 | TMEM127 | c.568G>A (p.Ala190Thr) c.316G>A (p.Ala106Thr) c.-351G>A (n.-351G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.96253958C>A | CA427807962 | TMEM127 | c.567G>T (p.Leu189=) c.315G>T (p.Leu105=) c.-352G>T (n.-352G>T) | dbSNP |
2 | g.96253958C= | CA1272522083 | TMEM127 | c.567G= (p.Leu189=) c.315G= (p.Leu105=) c.-352G= (n.-352G=) | |
2 | g.96253958C>G | CA427807963 | TMEM127 | c.567G>C (p.Leu189=) c.315G>C (p.Leu105=) c.-352G>C (n.-352G>C) | dbSNP |
2 | g.96253958C>T | CA1777279 | TMEM127 | c.567G>A (p.Leu189=) c.315G>A (p.Leu105=) c.-352G>A (n.-352G>A) | ClinVar dbSNP ExAC |
2 | g.96253959A>C | CA347652338 | TMEM127 | c.566T>G (p.Leu189Arg) c.314T>G (p.Leu105Arg) c.-353T>G (n.-353T>G) | |
2 | g.96253959A>G | CA347652340 | TMEM127 | c.566T>C (p.Leu189Pro) c.314T>C (p.Leu105Pro) c.-353T>C (n.-353T>C) | ClinVar gnomAD v4 |
2 | g.96253959A>T | CA347652339 | TMEM127 | c.566T>A (p.Leu189Gln) c.314T>A (p.Leu105Gln) c.-353T>A (n.-353T>A) | dbSNP |
2 | g.96253960G>A | CA188441 | TMEM127 | c.565C>T (p.Leu189=) c.313C>T (p.Leu105=) c.-354C>T (n.-354C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253960G>C | CA1777280 | TMEM127 | c.565C>G (p.Leu189Val) c.313C>G (p.Leu105Val) c.-354C>G (n.-354C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253960G= | CA1272522084 | TMEM127 | c.565C= (p.Leu189=) c.313C= (p.Leu105=) c.-354C= (n.-354C=) | |
2 | g.96253960G>T | CA347652342 | TMEM127 | c.565C>A (p.Leu189Met) c.313C>A (p.Leu105Met) c.-354C>A (n.-354C>A) | dbSNP |
2 | g.96253961G>A | CA1777281 | TMEM127 | c.564C>T (p.Ile188=) c.312C>T (p.Ile104=) c.-355C>T (n.-355C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253961G>C | CA347652345 | TMEM127 | c.564C>G (p.Ile188Met) c.312C>G (p.Ile104Met) c.-355C>G (n.-355C>G) | dbSNP |
2 | g.96253961G= | CA1272522085 | TMEM127 | c.564C= (p.Ile188=) c.312C= (p.Ile104=) c.-355C= (n.-355C=) | |
2 | g.96253961G>T | CA427807966 | TMEM127 | c.564C>A (p.Ile188=) c.312C>A (p.Ile104=) c.-355C>A (n.-355C>A) | ClinVar |
2 | g.96253962A= | CA1272522086 | TMEM127 | c.563T= (p.Ile188=) c.311T= (p.Ile104=) c.-356T= (n.-356T=) | |
2 | g.96253962A>C | CA347652347 | TMEM127 | c.563T>G (p.Ile188Ser) c.311T>G (p.Ile104Ser) c.-356T>G (n.-356T>G) | |
2 | g.96253962A>G | CA347652349 | TMEM127 | c.563T>C (p.Ile188Thr) c.311T>C (p.Ile104Thr) c.-356T>C (n.-356T>C) | dbSNP gnomAD v4 |
2 | g.96253962A>T | CA347652351 | TMEM127 | c.563T>A (p.Ile188Asn) c.311T>A (p.Ile104Asn) c.-356T>A (n.-356T>A) | dbSNP |
2 | g.96253963T>A | CA347652353 | TMEM127 | c.562A>T (p.Ile188Phe) c.310A>T (p.Ile104Phe) c.-357A>T (n.-357A>T) | dbSNP |
2 | g.96253963T>C | CA1777282 | TMEM127 | c.562A>G (p.Ile188Val) c.310A>G (p.Ile104Val) c.-357A>G (n.-357A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253963T>G | CA347652355 | TMEM127 | c.562A>C (p.Ile188Leu) c.310A>C (p.Ile104Leu) c.-357A>C (n.-357A>C) | dbSNP |
2 | g.96253963T= | CA1272522087 | TMEM127 | c.562A= (p.Ile188=) c.310A= (p.Ile104=) c.-357A= (n.-357A=) | |
2 | g.96253964T>A | CA427807972 | TMEM127 | c.561A>T (p.Ser187=) c.309A>T (p.Ser103=) c.-358A>T (n.-358A>T) | |
2 | g.96253964T>C | CA427807973 | TMEM127 | c.561A>G (p.Ser187=) c.309A>G (p.Ser103=) c.-358A>G (n.-358A>G) | ClinVar dbSNP |
2 | g.96253964T>G | CA427807974 | TMEM127 | c.561A>C (p.Ser187=) c.309A>C (p.Ser103=) c.-358A>C (n.-358A>C) | dbSNP |
2 | g.96253965G>A | CA347652360 | TMEM127 | c.560C>T (p.Ser187Leu) c.308C>T (p.Ser103Leu) c.-359C>T (n.-359C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.96253965G>C | CA347652359 | TMEM127 | c.560C>G (p.Ser187Ter) c.308C>G (p.Ser103Ter) c.-359C>G (n.-359C>G) | ClinVar dbSNP |
2 | g.96253965G= | CA1272522088 | TMEM127 | c.560C= (p.Ser187=) c.308C= (p.Ser103=) c.-359C= (n.-359C=) | |
2 | g.96253965G>T | CA347652357 | TMEM127 | c.560C>A (p.Ser187Ter) c.308C>A (p.Ser103Ter) c.-359C>A (n.-359C>A) | dbSNP |
2 | g.96253966A>C | CA347652361 | TMEM127 | c.559T>G (p.Ser187Ala) c.307T>G (p.Ser103Ala) c.-360T>G (n.-360T>G) | |
2 | g.96253966A>G | CA347652363 | TMEM127 | c.559T>C (p.Ser187Pro) c.307T>C (p.Ser103Pro) c.-360T>C (n.-360T>C) | ClinVar dbSNP |
2 | g.96253966A>T | CA347652365 | TMEM127 | c.559T>A (p.Ser187Thr) c.307T>A (p.Ser103Thr) c.-360T>A (n.-360T>A) | dbSNP |
2 | g.96253967G>A | CA427807980 | TMEM127 | c.558C>T (p.Ala186=) c.306C>T (p.Ala102=) c.-361C>T (n.-361C>T) | gnomAD v4 |
2 | g.96253967G>C | CA427807981 | TMEM127 | c.558C>G (p.Ala186=) c.306C>G (p.Ala102=) c.-361C>G (n.-361C>G) | |
2 | g.96253967G>T | CA427807982 | TMEM127 | c.558C>A (p.Ala186=) c.306C>A (p.Ala102=) c.-361C>A (n.-361C>A) | dbSNP |
2 | g.96253968G>A | CA347652369 | TMEM127 | c.557C>T (p.Ala186Val) c.305C>T (p.Ala102Val) c.-362C>T (n.-362C>T) | |
2 | g.96253968G>C | CA347652371 | TMEM127 | c.557C>G (p.Ala186Gly) c.305C>G (p.Ala102Gly) c.-362C>G (n.-362C>G) | gnomAD v4 |
2 | g.96253968G>T | CA347652372 | TMEM127 | c.557C>A (p.Ala186Asp) c.305C>A (p.Ala102Asp) c.-362C>A (n.-362C>A) | |
2 | g.96253969C>A | CA1777283 | TMEM127 | c.556G>T (p.Ala186Ser) c.304G>T (p.Ala102Ser) c.-363G>T (n.-363G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96253969C= | CA1272522089 | TMEM127 | c.556G= (p.Ala186=) c.304G= (p.Ala102=) c.-363G= (n.-363G=) | |
2 | g.96253969C>G | CA347652373 | TMEM127 | c.556G>C (p.Ala186Pro) c.304G>C (p.Ala102Pro) c.-363G>C (n.-363G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.96253969C>T | CA347652374 | TMEM127 | c.556G>A (p.Ala186Thr) c.304G>A (p.Ala102Thr) c.-363G>A (n.-363G>A) | ClinVar |
2 | g.96253970T>A | CA427807988 | TMEM127 | c.555A>T (p.Gly185=) c.303A>T (p.Gly101=) c.-364A>T (n.-364A>T) | |
2 | g.96253970T>C | CA427807989 | TMEM127 | c.555A>G (p.Gly185=) c.303A>G (p.Gly101=) c.-364A>G (n.-364A>G) | |
2 | g.96253970T>G | CA427807991 | TMEM127 | c.555A>C (p.Gly185=) c.303A>C (p.Gly101=) c.-364A>C (n.-364A>C) | ClinVar dbSNP gnomAD v4 |
2 | g.96253970_96253982dup | CA2586964986 | TMEM127 | c.543_555dup (p.Ala186ArgfsTer?) c.291_303dup (p.Ala102ArgfsTer?) c.-376_-364dup (n.-376_-364dup) | |
2 | g.96253970_96253983delinsTCCACCAGCTCCTG | CA1272522090 | TMEM127 | c.542_555delinsCAGGAGCTGGTGGA (p.Ala181=) c.290_303delinsCAGGAGCTGGTGGA (p.Ala97=) c.-377_-364delinsCAGGAGCTGGTGGA (n.-377_-364delinsCAGGAGCTGGTGGA) | |
2 | g.96253971C>A | CA347652375 | TMEM127 | c.554G>T (p.Gly185Val) c.302G>T (p.Gly101Val) c.-365G>T (n.-365G>T) | |
2 | g.96253971C= | CA1272522091 | TMEM127 | c.554G= (p.Gly185=) c.302G= (p.Gly101=) c.-365G= (n.-365G=) | |
2 | g.96253971C>G | CA347652376 | TMEM127 | c.554G>C (p.Gly185Ala) c.302G>C (p.Gly101Ala) c.-365G>C (n.-365G>C) | |
2 | g.96253971C>T | CA1777284 | TMEM127 | c.554G>A (p.Gly185Glu) c.302G>A (p.Gly101Glu) c.-365G>A (n.-365G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96253972_96253985del | CA2586964987 | TMEM127 | c.541_554del (p.Ala181SerfsTer?) c.289_302del (p.Ala97SerfsTer?) c.-378_-365del (n.-378_-365del) | |
2 | g.96253978_96253990del | CA1139655615 | TMEM127 | c.542_554del (p.Ala181GlufsTer?) c.290_302del (p.Ala97GlufsTer?) c.-377_-365del (n.-377_-365del) | ClinVar dbSNP |
2 | g.96253972C>A | CA347652383 | TMEM127 | c.553G>T (p.Gly185Ter) c.301G>T (p.Gly101Ter) c.-366G>T (n.-366G>T) | dbSNP |
2 | g.96253972C= | CA1272522092 | TMEM127 | c.553G= (p.Gly185=) c.301G= (p.Gly101=) c.-366G= (n.-366G=) | |
2 | g.96253972C>G | CA347652381 | TMEM127 | c.553G>C (p.Gly185Arg) c.301G>C (p.Gly101Arg) c.-366G>C (n.-366G>C) | dbSNP |
2 | g.96253972C>T | CA347652379 | TMEM127 | c.553G>A (p.Gly185Arg) c.301G>A (p.Gly101Arg) c.-366G>A (n.-366G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.96253973A= | CA1272522093 | TMEM127 | c.552T= (p.Gly184=) c.300T= (p.Gly100=) c.-367T= (n.-367T=) | |
2 | g.96253973A>C | CA427807993 | TMEM127 | c.552T>G (p.Gly184=) c.300T>G (p.Gly100=) c.-367T>G (n.-367T>G) | dbSNP gnomAD v4 |
2 | g.96253973A>G | CA427807996 | TMEM127 | c.552T>C (p.Gly184=) c.300T>C (p.Gly100=) c.-367T>C (n.-367T>C) | ClinVar |
2 | g.96253973A>T | CA427807994 | TMEM127 | c.552T>A (p.Gly184=) c.300T>A (p.Gly100=) c.-367T>A (n.-367T>A) | ClinVar |
2 | g.96253974C>A | CA347652387 | TMEM127 | c.551G>T (p.Gly184Val) c.299G>T (p.Gly100Val) c.-368G>T (n.-368G>T) | ClinVar dbSNP |
2 | g.96253974C>G | CA347652385 | TMEM127 | c.551G>C (p.Gly184Ala) c.299G>C (p.Gly100Ala) c.-368G>C (n.-368G>C) | dbSNP |
2 | g.96253974C>T | CA347652386 | TMEM127 | c.551G>A (p.Gly184Asp) c.299G>A (p.Gly100Asp) c.-368G>A (n.-368G>A) | dbSNP |
2 | g.96253975del | CA2700000764 | TMEM127 | c.551del (p.Gly184ValfsTer?) c.299del (p.Gly100ValfsTer?) c.-368del (n.-368del) | dbSNP |
2 | g.96253975C>A | CA347652388 | TMEM127 | c.550G>T (p.Gly184Cys) c.298G>T (p.Gly100Cys) c.-369G>T (n.-369G>T) | |
2 | g.96253975C= | CA1272522094 | TMEM127 | c.550G= (p.Gly184=) c.298G= (p.Gly100=) c.-369G= (n.-369G=) | |
2 | g.96253975C>G | CA16611124 | TMEM127 | c.550G>C (p.Gly184Arg) c.298G>C (p.Gly100Arg) c.-369G>C (n.-369G>C) | ClinVar dbSNP |
2 | g.96253975C>T | CA347652389 | TMEM127 | c.550G>A (p.Gly184Ser) c.298G>A (p.Gly100Ser) c.-369G>A (n.-369G>A) | ClinVar dbSNP |
2 | g.96253976A>C | CA427808002 | TMEM127 | c.549T>G (p.Ala183=) c.297T>G (p.Ala99=) c.-370T>G (n.-370T>G) | |
2 | g.96253976A>G | CA427808003 | TMEM127 | c.549T>C (p.Ala183=) c.297T>C (p.Ala99=) c.-370T>C (n.-370T>C) | ClinVar |
2 | g.96253976A>T | CA427808004 | TMEM127 | c.549T>A (p.Ala183=) c.297T>A (p.Ala99=) c.-370T>A (n.-370T>A) | dbSNP |
2 | g.96253977G>A | CA347652396 | TMEM127 | c.548C>T (p.Ala183Val) c.296C>T (p.Ala99Val) c.-371C>T (n.-371C>T) | dbSNP |
2 | g.96253977G>C | CA347652394 | TMEM127 | c.548C>G (p.Ala183Gly) c.296C>G (p.Ala99Gly) c.-371C>G (n.-371C>G) | ClinVar dbSNP |
2 | g.96253977G>T | CA347652392 | TMEM127 | c.548C>A (p.Ala183Asp) c.296C>A (p.Ala99Asp) c.-371C>A (n.-371C>A) | |
2 | g.96253978C>A | CA347652397 | TMEM127 | c.547G>T (p.Ala183Ser) c.295G>T (p.Ala99Ser) c.-372G>T (n.-372G>T) | ClinVar dbSNP |
2 | g.96253978C>G | CA347652399 | TMEM127 | c.547G>C (p.Ala183Pro) c.295G>C (p.Ala99Pro) c.-372G>C (n.-372G>C) | dbSNP |
2 | g.96253978C>T | CA347652401 | TMEM127 | c.547G>A (p.Ala183Thr) c.295G>A (p.Ala99Thr) c.-372G>A (n.-372G>A) | gnomAD v4 |
2 | g.96253979T>A | CA427808009 | TMEM127 | c.546A>T (p.Gly182=) c.294A>T (p.Gly98=) c.-373A>T (n.-373A>T) | dbSNP |
2 | g.96253979T>C | CA427808011 | TMEM127 | c.546A>G (p.Gly182=) c.294A>G (p.Gly98=) c.-373A>G (n.-373A>G) | dbSNP |
2 | g.96253979T>G | CA427808012 | TMEM127 | c.546A>C (p.Gly182=) c.294A>C (p.Gly98=) c.-373A>C (n.-373A>C) | |
2 | g.96253979T= | CA1272522095 | TMEM127 | c.546A= (p.Gly182=) c.294A= (p.Gly98=) c.-373A= (n.-373A=) | |
2 | g.96253980C>A | CA347652404 | TMEM127 | c.545G>T (p.Gly182Val) c.293G>T (p.Gly98Val) c.-374G>T (n.-374G>T) | dbSNP |
2 | g.96253980C= | CA1272522096 | TMEM127 | c.545G= (p.Gly182=) c.293G= (p.Gly98=) c.-374G= (n.-374G=) | |
2 | g.96253980C>G | CA347652406 | TMEM127 | c.545G>C (p.Gly182Ala) c.293G>C (p.Gly98Ala) c.-374G>C (n.-374G>C) | ClinVar dbSNP gnomAD v4 |
2 | g.96253980C>T | CA1777285 | TMEM127 | c.545G>A (p.Gly182Glu) c.293G>A (p.Gly98Glu) c.-374G>A (n.-374G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253981dup | CA2842763321 | TMEM127 | c.545dup (p.Ala183SerfsTer?) c.293dup (p.Ala99SerfsTer?) c.-374dup (n.-374dup) | |
2 | g.96253981C>A | CA347652412 | TMEM127 | c.544G>T (p.Gly182Ter) c.292G>T (p.Gly98Ter) c.-375G>T (n.-375G>T) | dbSNP |
2 | g.96253981C>G | CA347652417 | TMEM127 | c.544G>C (p.Gly182Arg) c.292G>C (p.Gly98Arg) c.-375G>C (n.-375G>C) | |
2 | g.96253981C>T | CA347652415 | TMEM127 | c.544G>A (p.Gly182Arg) c.292G>A (p.Gly98Arg) c.-375G>A (n.-375G>A) | ClinVar dbSNP COSMIC |
2 | g.96253982T>A | CA427808016 | TMEM127 | c.543A>T (p.Ala181=) c.291A>T (p.Ala97=) c.-376A>T (n.-376A>T) | dbSNP |
2 | g.96253982T>C | CA427808017 | TMEM127 | c.543A>G (p.Ala181=) c.291A>G (p.Ala97=) c.-376A>G (n.-376A>G) | ClinVar dbSNP |
2 | g.96253982T>G | CA427808018 | TMEM127 | c.543A>C (p.Ala181=) c.291A>C (p.Ala97=) c.-376A>C (n.-376A>C) | |
2 | g.96253983G>A | CA347652418 | TMEM127 | c.542C>T (p.Ala181Val) c.290C>T (p.Ala97Val) c.-377C>T (n.-377C>T) | |
2 | g.96253983G>C | CA347652421 | TMEM127 | c.542C>G (p.Ala181Gly) c.290C>G (p.Ala97Gly) c.-377C>G (n.-377C>G) | |
2 | g.96253983G>T | CA347652422 | TMEM127 | c.542C>A (p.Ala181Glu) c.290C>A (p.Ala97Glu) c.-377C>A (n.-377C>A) | |
2 | g.96253984C>A | CA347652424 | TMEM127 | c.541G>T (p.Ala181Ser) c.289G>T (p.Ala97Ser) c.-378G>T (n.-378G>T) | dbSNP |
2 | g.96253984C= | CA1272522097 | TMEM127 | c.541G= (p.Ala181=) c.289G= (p.Ala97=) c.-378G= (n.-378G=) | |
2 | g.96253984C>G | CA347652428 | TMEM127 | c.541G>C (p.Ala181Pro) c.289G>C (p.Ala97Pro) c.-378G>C (n.-378G>C) | dbSNP |
2 | g.96253984C>T | CA347652430 | TMEM127 | c.541G>A (p.Ala181Thr) c.289G>A (p.Ala97Thr) c.-378G>A (n.-378G>A) | dbSNP |
2 | g.96253985dup | CA2580611366 | TMEM127 | c.541dup (p.Ala181GlyfsTer?) c.289dup (p.Ala97GlyfsTer?) c.-378dup (n.-378dup) | ClinVar |
2 | g.96253985C>A | CA427808022 | TMEM127 | c.540G>T (p.Val180=) c.288G>T (p.Val96=) c.-379G>T (n.-379G>T) | dbSNP |
2 | g.96253985C= | CA1272522098 | TMEM127 | c.540G= (p.Val180=) c.288G= (p.Val96=) c.-379G= (n.-379G=) | |
2 | g.96253985C>G | CA427808025 | TMEM127 | c.540G>C (p.Val180=) c.288G>C (p.Val96=) c.-379G>C (n.-379G>C) | |
2 | g.96253985C>T | CA427808024 | TMEM127 | c.540G>A (p.Val180=) c.288G>A (p.Val96=) c.-379G>A (n.-379G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.96253986A>C | CA347652451 | TMEM127 | c.539T>G (p.Val180Gly) c.287T>G (p.Val96Gly) c.-380T>G (n.-380T>G) | |
2 | g.96253986A>G | CA347652454 | TMEM127 | c.539T>C (p.Val180Ala) c.287T>C (p.Val96Ala) c.-380T>C (n.-380T>C) | ClinVar |
2 | g.96253986A>T | CA347652457 | TMEM127 | c.539T>A (p.Val180Glu) c.287T>A (p.Val96Glu) c.-380T>A (n.-380T>A) | dbSNP |
2 | g.96253986dup | CA2580068316 | TMEM127 | c.539dup (p.Ala181GlyfsTer?) c.287dup (p.Ala97GlyfsTer?) c.-380dup (n.-380dup) | ClinVar |
2 | g.96253987C>A | CA347652461 | TMEM127 | c.538G>T (p.Val180Leu) c.286G>T (p.Val96Leu) c.-381G>T (n.-381G>T) | ClinVar dbSNP |
2 | g.96253987C= | CA1272522099 | TMEM127 | c.538G= (p.Val180=) c.286G= (p.Val96=) c.-381G= (n.-381G=) | |
2 | g.96253987C>G | CA347652462 | TMEM127 | c.538G>C (p.Val180Leu) c.286G>C (p.Val96Leu) c.-381G>C (n.-381G>C) | dbSNP |
2 | g.96253987C>T | CA1777286 | TMEM127 | c.538G>A (p.Val180Met) c.286G>A (p.Val96Met) c.-381G>A (n.-381G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96253988C>A | CA427808029 | TMEM127 | c.537G>T (p.Leu179=) c.285G>T (p.Leu95=) c.-382G>T (n.-382G>T) | |
2 | g.96253988C= | CA1272522100 | TMEM127 | c.537G= (p.Leu179=) c.285G= (p.Leu95=) c.-382G= (n.-382G=) | |
2 | g.96253988C>G | CA427808030 | TMEM127 | c.537G>C (p.Leu179=) c.285G>C (p.Leu95=) c.-382G>C (n.-382G>C) | ClinVar dbSNP |
2 | g.96253988C>T | CA427808031 | TMEM127 | c.537G>A (p.Leu179=) c.285G>A (p.Leu95=) c.-382G>A (n.-382G>A) | |
2 | g.96253989A= | CA1272522101 | TMEM127 | c.536T= (p.Leu179=) c.284T= (p.Leu95=) c.-383T= (n.-383T=) | |
2 | g.96253989A>C | CA347652481 | TMEM127 | c.536T>G (p.Leu179Arg) c.284T>G (p.Leu95Arg) c.-383T>G (n.-383T>G) | |
2 | g.96253989A>G | CA347652485 | TMEM127 | c.536T>C (p.Leu179Pro) c.284T>C (p.Leu95Pro) c.-383T>C (n.-383T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.96253989A>T | CA347652478 | TMEM127 | c.536T>A (p.Leu179Gln) c.284T>A (p.Leu95Gln) c.-383T>A (n.-383T>A) | |
2 | g.96253990_96254064del | CA2751311961 | TMEM127 | c.462_536del (p.Ile154_Leu179delinsMet) c.210_284del (p.Ile70_Leu95delinsMet) c.-457_-383del (n.-457_-383del) | |
2 | g.96253990G>A | CA427808034 | TMEM127 | c.535C>T (p.Leu179=) c.283C>T (p.Leu95=) c.-384C>T (n.-384C>T) | dbSNP gnomAD v4 |
2 | g.96253990G>C | CA347652486 | TMEM127 | c.535C>G (p.Leu179Val) c.283C>G (p.Leu95Val) c.-384C>G (n.-384C>G) | dbSNP |
2 | g.96253990G>T | CA347652488 | TMEM127 | c.535C>A (p.Leu179Met) c.283C>A (p.Leu95Met) c.-384C>A (n.-384C>A) | dbSNP |
2 | g.96253991G>A | CA1777287 | TMEM127 | c.534C>T (p.Tyr178=) c.282C>T (p.Tyr94=) c.-385C>T (n.-385C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253991G>C | CA347652490 | TMEM127 | c.534C>G (p.Tyr178Ter) c.282C>G (p.Tyr94Ter) c.-385C>G (n.-385C>G) | dbSNP |
2 | g.96253991G= | CA1272522102 | TMEM127 | c.534C= (p.Tyr178=) c.282C= (p.Tyr94=) c.-385C= (n.-385C=) | |
2 | g.96253991G>T | CA347652492 | TMEM127 | c.534C>A (p.Tyr178Ter) c.282C>A (p.Tyr94Ter) c.-385C>A (n.-385C>A) | gnomAD v4 |