Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.161305808_161309983dup | CA10584071 | ClinVar | ||
1 | g.161306768dup | CA1139656406 | MPZ | c.367+25dup (n.367+25dup) c.392dup (p.Asn131LysfsTer18) c.-197dup (n.-197dup) n.455dup c.111+25dup c.422dup (p.Asn141LysfsTer18) | ClinVar |
1 | g.161306768del | CA2648773429 | MPZ | c.367+25del (n.367+25del) c.392del (p.Asn131ThrfsTer5) c.-197del (n.-197del) n.455del c.111+25del c.422del (p.Asn141ThrfsTer5) | gnomAD v4 |
1 | g.161306765T>A | CA343348762 | MPZ | c.367+24A>T (n.367+24A>T) c.391A>T (p.Asn131Tyr) c.-198A>T (n.-198A>T) n.454A>T c.111+24A>T c.421A>T (p.Asn141Tyr) | ClinVar dbSNP |
1 | g.161306765T>C | CA343348764 | MPZ | c.367+24A>G (n.367+24A>G) c.391A>G (p.Asn131Asp) c.-198A>G (n.-198A>G) n.454A>G c.111+24A>G c.421A>G (p.Asn141Asp) | |
1 | g.161306765T>G | CA343348769 | MPZ | c.367+24A>C (n.367+24A>C) c.391A>C (p.Asn131His) c.-198A>C (n.-198A>C) n.454A>C c.111+24A>C c.421A>C (p.Asn141His) | ClinVar dbSNP |
1 | g.161306765T= | CA1202689373 | MPZ | c.367+24A= (n.367+24A=) c.391A= (p.Asn131=) c.-198A= (n.-198A=) n.454A= c.111+24A= c.421A= (p.Asn141=) | |
1 | g.161306766T>A | CA343348775 | MPZ | c.367+23A>T (n.367+23A>T) c.390A>T (p.Lys130Asn) c.-199A>T (n.-199A>T) n.453A>T c.111+23A>T c.420A>T (p.Lys140Asn) | |
1 | g.161306766T>C | CA421405101 | MPZ | c.367+23A>G (n.367+23A>G) c.390A>G (p.Lys130=) c.-199A>G (n.-199A>G) n.453A>G c.111+23A>G c.420A>G (p.Lys140=) | |
1 | g.161306766T>G | CA343348784 | MPZ | c.367+23A>C (n.367+23A>C) c.390A>C (p.Lys130Asn) c.-199A>C (n.-199A>C) n.453A>C c.111+23A>C c.420A>C (p.Lys140Asn) | |
1 | g.161306767T>A | CA343348794 | MPZ | c.367+22A>T (n.367+22A>T) c.389A>T (p.Lys130Ile) c.-200A>T (n.-200A>T) n.452A>T c.111+22A>T c.419A>T (p.Lys140Ile) | |
1 | g.161306767T>C | CA243183 | MPZ | c.367+22A>G (n.367+22A>G) c.389A>G (p.Lys130Arg) c.-200A>G (n.-200A>G) n.452A>G c.111+22A>G c.419A>G (p.Lys140Arg) | ClinVar dbSNP |
1 | g.161306767T>G | CA343348798 | MPZ | c.367+22A>C (n.367+22A>C) c.389A>C (p.Lys130Thr) c.-200A>C (n.-200A>C) n.452A>C c.111+22A>C c.419A>C (p.Lys140Thr) | |
1 | g.161306767T= | CA1143538429 | MPZ | c.367+22A= (n.367+22A=) c.389A= (p.Lys130=) c.-200A= (n.-200A=) n.452A= c.111+22A= c.419A= (p.Lys140=) | |
1 | g.161306768T>A | CA343348799 | MPZ | c.367+21A>T (n.367+21A>T) c.388A>T (p.Lys130Ter) c.-201A>T (n.-201A>T) n.451A>T c.111+21A>T c.418A>T (p.Lys140Ter) | |
1 | g.161306768T>C | CA343348808 | MPZ | c.367+21A>G (n.367+21A>G) c.388A>G (p.Lys130Glu) c.-201A>G (n.-201A>G) n.451A>G c.111+21A>G c.418A>G (p.Lys140Glu) | ClinVar gnomAD v4 |
1 | g.161306768T>G | CA343348811 | MPZ | c.367+21A>C (n.367+21A>C) c.388A>C (p.Lys130Gln) c.-201A>C (n.-201A>C) n.451A>C c.111+21A>C c.418A>C (p.Lys140Gln) | |
1 | g.161306769G>A | CA421405104 | MPZ | c.367+20C>T (n.367+20C>T) c.387C>T (p.Val129=) c.-202C>T (n.-202C>T) n.450C>T c.111+20C>T c.417C>T (p.Val139=) | |
1 | g.161306769G>C | CA421405103 | MPZ | c.367+20C>G (n.367+20C>G) c.387C>G (p.Val129=) c.-202C>G (n.-202C>G) n.450C>G c.111+20C>G c.417C>G (p.Val139=) | |
1 | g.161306769G>T | CA421405105 | MPZ | c.367+20C>A (n.367+20C>A) c.387C>A (p.Val129=) c.-202C>A (n.-202C>A) n.450C>A c.111+20C>A c.417C>A (p.Val139=) | gnomAD v4 |
1 | g.161306770A>C | CA343348815 | MPZ | c.367+19T>G (n.367+19T>G) c.386T>G (p.Val129Gly) c.-203T>G (n.-203T>G) n.449T>G c.111+19T>G c.416T>G (p.Val139Gly) | ClinVar dbSNP |
1 | g.161306770A>G | CA343348821 | MPZ | c.367+19T>C (n.367+19T>C) c.386T>C (p.Val129Ala) c.-203T>C (n.-203T>C) n.449T>C c.111+19T>C c.416T>C (p.Val139Ala) | |
1 | g.161306770A>T | CA343348824 | MPZ | c.367+19T>A (n.367+19T>A) c.386T>A (p.Val129Asp) c.-203T>A (n.-203T>A) n.449T>A c.111+19T>A c.416T>A (p.Val139Asp) | |
1 | g.161306771C>A | CA343348829 | MPZ | c.367+18G>T (n.367+18G>T) c.385G>T (p.Val129Phe) c.-204G>T (n.-204G>T) n.448G>T c.111+18G>T c.415G>T (p.Val139Phe) | ClinVar |
1 | g.161306771C= | CA1143464602 | MPZ | c.367+18G= (n.367+18G=) c.385G= (p.Val129=) c.-204G= (n.-204G=) n.448G= c.111+18G= c.415G= (p.Val139=) | |
1 | g.161306771C>G | CA343348836 | MPZ | c.367+18G>C (n.367+18G>C) c.385G>C (p.Val129Leu) c.-204G>C (n.-204G>C) n.448G>C c.111+18G>C c.415G>C (p.Val139Leu) | |
1 | g.161306771C>T | CA31668684 | MPZ | c.367+18G>A (n.367+18G>A) c.385G>A (p.Val129Ile) c.-204G>A (n.-204G>A) n.448G>A c.111+18G>A c.415G>A (p.Val139Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.161306772G>A | CA1210179 | MPZ | c.367+17C>T (n.367+17C>T) c.384C>T (p.Asp128=) c.-205C>T (n.-205C>T) n.447C>T c.111+17C>T c.414C>T (p.Asp138=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.161306772G>C | CA343348839 | MPZ | c.367+17C>G (n.367+17C>G) c.384C>G (p.Asp128Glu) c.-205C>G (n.-205C>G) n.447C>G c.111+17C>G c.414C>G (p.Asp138Glu) | ClinVar dbSNP |
1 | g.161306772G= | CA1202689397 | MPZ | c.367+17C= (n.367+17C=) c.384C= (p.Asp128=) c.-205C= (n.-205C=) n.447C= c.111+17C= c.414C= (p.Asp138=) | |
1 | g.161306772G>T | CA343348843 | MPZ | c.367+17C>A (n.367+17C>A) c.384C>A (p.Asp128Glu) c.-205C>A (n.-205C>A) n.447C>A c.111+17C>A c.414C>A (p.Asp138Glu) | |
1 | g.161306773T>A | CA343348853 | MPZ | c.367+16A>T (n.367+16A>T) c.383A>T (p.Asp128Val) c.-206A>T (n.-206A>T) n.446A>T c.111+16A>T c.413A>T (p.Asp138Val) | |
1 | g.161306773T>C | CA343348847 | MPZ | c.367+16A>G (n.367+16A>G) c.383A>G (p.Asp128Gly) c.-206A>G (n.-206A>G) n.446A>G c.111+16A>G c.413A>G (p.Asp138Gly) | ClinVar dbSNP |
1 | g.161306773T>G | CA343348852 | MPZ | c.367+16A>C (n.367+16A>C) c.383A>C (p.Asp128Ala) c.-206A>C (n.-206A>C) n.446A>C c.111+16A>C c.413A>C (p.Asp138Ala) | |
1 | g.161306773T= | CA1202689403 | MPZ | c.367+16A= (n.367+16A=) c.383A= (p.Asp128=) c.-206A= (n.-206A=) n.446A= c.111+16A= c.413A= (p.Asp138=) | |
1 | g.161306773_161306776dup | CA16609901 | MPZ | c.367+13_367+16dup (n.367+13_367+16dup) c.380_383dup (p.Asp128GlufsTer2) c.-209_-206dup (n.-209_-206dup) n.443_446dup c.111+13_111+16dup c.410_413dup (p.Asp138GlufsTer2) | ClinVar dbSNP |
1 | g.161306773_161306788delinsTCACAAGTGAACGTGC | CA1202689405 | MPZ | c.367+1_367+16delinsGCACGTTCACTTGTGA (n.367+1_367+16delinsGCACGTTCACTTGTGA) c.368_383delinsGCACGTTCACTTGTGA (p.Gly123=) c.-221_-206delinsGCACGTTCACTTGTGA (n.-221_-206delinsGCACGTTCACTTGTGA) n.431_446delinsGCACGTTCACTTGTGA c.111+1_111+16delinsGCACGTTCACTTGTGA c.398_413delinsGCACGTTCACTTGTGA (p.Gly133=) | |
1 | g.161306774C>A | CA343348854 | MPZ | c.367+15G>T (n.367+15G>T) c.382G>T (p.Asp128Tyr) c.-207G>T (n.-207G>T) n.445G>T c.111+15G>T c.412G>T (p.Asp138Tyr) | ClinVar dbSNP |
1 | g.161306774C= | CA1143538430 | MPZ | c.367+15G= (n.367+15G=) c.382G= (p.Asp128=) c.-207G= (n.-207G=) n.445G= c.111+15G= c.412G= (p.Asp138=) | |
1 | g.161306774C>G | CA343348857 | MPZ | c.367+15G>C (n.367+15G>C) c.382G>C (p.Asp128His) c.-207G>C (n.-207G>C) n.445G>C c.111+15G>C c.412G>C (p.Asp138His) | ClinVar dbSNP |
1 | g.161306774C>T | CA351448 | MPZ | c.367+15G>A (n.367+15G>A) c.382G>A (p.Asp128Asn) c.-207G>A (n.-207G>A) n.445G>A c.111+15G>A c.412G>A (p.Asp138Asn) | ClinVar dbSNP |
1 | g.[161306774C>T;161306810T>G;161306815A>G] | CA351450 | MPZ | c.[341T>C;346A>C;367+15G>A] (p.[Ile114Thr;Asn116His]) c.[341T>C;346A>C;382G>A] (p.[Ile114Thr;Asn116His;Asp128Asn]) c.[-248T>C;-243A>C;-207G>A] (n.[-248T>C;-243A>C;-207G>A]) n.[404T>C;409A>C;445G>A] c.[85T>C;90A>C;111+15G>A] c.[371T>C;376A>C;412G>A] (p.[Ile124Thr;Asn126His;Asp138Asn]) | |
1 | g.161306776_161306790del | CA915943869 | MPZ | c.367+1_367+15del c.368_382del (p.Gly123_Cys127del) c.-221_-207del (n.-221_-207del) n.431_445del c.111+1_111+15del c.398_412del (p.Gly133_Cys137del) | ClinVar dbSNP |
1 | g.161306775A>C | CA343348866 | MPZ | c.367+14T>G (n.367+14T>G) c.381T>G (p.Cys127Trp) c.-208T>G (n.-208T>G) n.444T>G c.111+14T>G c.411T>G (p.Cys137Trp) | |
1 | g.161306775A>G | CA421405112 | MPZ | c.367+14T>C (n.367+14T>C) c.381T>C (p.Cys127=) c.-208T>C (n.-208T>C) n.444T>C c.111+14T>C c.411T>C (p.Cys137=) | |
1 | g.161306775A>T | CA343348869 | MPZ | c.367+14T>A (n.367+14T>A) c.381T>A (p.Cys127Ter) c.-208T>A (n.-208T>A) n.444T>A c.111+14T>A c.411T>A (p.Cys137Ter) | |
1 | g.161306776C>A | CA343348876 | MPZ | c.367+13G>T (n.367+13G>T) c.380G>T (p.Cys127Phe) c.-209G>T (n.-209G>T) n.443G>T c.111+13G>T c.410G>T (p.Cys137Phe) | |
1 | g.161306776C= | CA1202689430 | MPZ | c.367+13G= (n.367+13G=) c.380G= (p.Cys127=) c.-209G= (n.-209G=) n.443G= c.111+13G= c.410G= (p.Cys137=) | |
1 | g.161306776C>G | CA204850 | MPZ | c.367+13G>C (n.367+13G>C) c.380G>C (p.Cys127Ser) c.-209G>C (n.-209G>C) n.443G>C c.111+13G>C c.410G>C (p.Cys137Ser) | ClinVar dbSNP |
1 | g.161306776C>T | CA343348880 | MPZ | c.367+13G>A (n.367+13G>A) c.380G>A (p.Cys127Tyr) c.-209G>A (n.-209G>A) n.443G>A c.111+13G>A c.410G>A (p.Cys137Tyr) | ClinVar dbSNP |
1 | g.161306777A>C | CA343348883 | MPZ | c.367+12T>G (n.367+12T>G) c.379T>G (p.Cys127Gly) c.-210T>G (n.-210T>G) n.442T>G c.111+12T>G c.409T>G (p.Cys137Gly) | ClinVar |
1 | g.161306777A>G | CA343348889 | MPZ | c.367+12T>C (n.367+12T>C) c.379T>C (p.Cys127Arg) c.-210T>C (n.-210T>C) n.442T>C c.111+12T>C c.409T>C (p.Cys137Arg) | |
1 | g.161306777A>T | CA343348890 | MPZ | c.367+12T>A (n.367+12T>A) c.379T>A (p.Cys127Ser) c.-210T>A (n.-210T>A) n.442T>A c.111+12T>A c.409T>A (p.Cys137Ser) | |
1 | g.161306778A= | CA1202689439 | MPZ | c.367+11T= (n.367+11T=) c.378T= (p.Thr126=) c.-211T= (n.-211T=) n.441T= c.111+11T= c.408T= (p.Thr136=) | |
1 | g.161306778A>C | CA421405113 | MPZ | c.367+11T>G (n.367+11T>G) c.378T>G (p.Thr126=) c.-211T>G (n.-211T>G) n.441T>G c.111+11T>G c.408T>G (p.Thr136=) | |
1 | g.161306778A>G | CA421405116 | MPZ | c.367+11T>C (n.367+11T>C) c.378T>C (p.Thr126=) c.-211T>C (n.-211T>C) n.441T>C c.111+11T>C c.408T>C (p.Thr136=) | ClinVar dbSNP gnomAD v4 |
1 | g.161306778A>T | CA421405119 | MPZ | c.367+11T>A (n.367+11T>A) c.378T>A (p.Thr126=) c.-211T>A (n.-211T>A) n.441T>A c.111+11T>A c.408T>A (p.Thr136=) | dbSNP |
1 | g.161306778_161306784delinsAGTGAAC | CA1202689440 | MPZ | c.367+5_367+11delinsGTTCACT (n.367+5_367+11delinsGTTCACT) c.372_378delinsGTTCACT (p.Thr124=) c.-217_-211delinsGTTCACT (n.-217_-211delinsGTTCACT) n.435_441delinsGTTCACT c.111+5_111+11delinsGTTCACT c.402_408delinsGTTCACT (p.Thr134=) | |
1 | g.161306779G>A | CA343348902 | MPZ | c.367+10C>T (n.367+10C>T) c.377C>T (p.Thr126Ile) c.-212C>T (n.-212C>T) n.440C>T c.111+10C>T c.407C>T (p.Thr136Ile) | |
1 | g.161306779G>C | CA343348897 | MPZ | c.367+10C>G (n.367+10C>G) c.377C>G (p.Thr126Ser) c.-212C>G (n.-212C>G) n.440C>G c.111+10C>G c.407C>G (p.Thr136Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.161306779G= | CA1202689448 | MPZ | c.367+10C= (n.367+10C=) c.377C= (p.Thr126=) c.-212C= (n.-212C=) n.440C= c.111+10C= c.407C= (p.Thr136=) | |
1 | g.161306779G>T | CA343348892 | MPZ | c.367+10C>A (n.367+10C>A) c.377C>A (p.Thr126Asn) c.-212C>A (n.-212C>A) n.440C>A c.111+10C>A c.407C>A (p.Thr136Asn) | |
1 | g.161306782_161306787del | CA915943870 | MPZ | c.367+5_367+10del (n.367+5_367+10del) c.372_377del (p.Phe125_Thr126del) c.-217_-212del (n.-217_-212del) n.435_440del c.111+5_111+10del c.402_407del (p.Phe135_Thr136del) | ClinVar dbSNP |
1 | g.161306780T>A | CA343348916 | MPZ | c.367+9A>T (n.367+9A>T) c.376A>T (p.Thr126Ser) c.-213A>T (n.-213A>T) n.439A>T c.111+9A>T c.406A>T (p.Thr136Ser) | |
1 | g.161306780T>C | CA343348926 | MPZ | c.367+9A>G (n.367+9A>G) c.376A>G (p.Thr126Ala) c.-213A>G (n.-213A>G) n.439A>G c.111+9A>G c.406A>G (p.Thr136Ala) | gnomAD v4 |
1 | g.161306780T>G | CA343348933 | MPZ | c.367+9A>C (n.367+9A>C) c.376A>C (p.Thr126Pro) c.-213A>C (n.-213A>C) n.439A>C c.111+9A>C c.406A>C (p.Thr136Pro) | |
1 | g.161306781G>A | CA421405123 | MPZ | c.367+8C>T (n.367+8C>T) c.375C>T (p.Phe125=) c.-214C>T (n.-214C>T) n.438C>T c.111+8C>T c.405C>T (p.Phe135=) | |
1 | g.161306781G>C | CA343348936 | MPZ | c.367+8C>G (n.367+8C>G) c.375C>G (p.Phe125Leu) c.-214C>G (n.-214C>G) n.438C>G c.111+8C>G c.405C>G (p.Phe135Leu) | |
1 | g.161306781G>T | CA343348939 | MPZ | c.367+8C>A (n.367+8C>A) c.375C>A (p.Phe125Leu) c.-214C>A (n.-214C>A) n.438C>A c.111+8C>A c.405C>A (p.Phe135Leu) | |
1 | g.161306782A>C | CA343348951 | MPZ | c.367+7T>G (n.367+7T>G) c.374T>G (p.Phe125Cys) c.-215T>G (n.-215T>G) n.437T>G c.111+7T>G c.404T>G (p.Phe135Cys) | |
1 | g.161306782A>G | CA343348958 | MPZ | c.367+7T>C (n.367+7T>C) c.374T>C (p.Phe125Ser) c.-215T>C (n.-215T>C) n.437T>C c.111+7T>C c.404T>C (p.Phe135Ser) | ClinVar |
1 | g.161306782A>T | CA343348963 | MPZ | c.367+7T>A (n.367+7T>A) c.374T>A (p.Phe125Tyr) c.-215T>A (n.-215T>A) n.437T>A c.111+7T>A c.404T>A (p.Phe135Tyr) | |
1 | g.161306783A>C | CA343348966 | MPZ | c.367+6T>G (n.367+6T>G) c.373T>G (p.Phe125Val) c.-216T>G (n.-216T>G) n.436T>G c.111+6T>G c.403T>G (p.Phe135Val) | |
1 | g.161306783A>G | CA343348967 | MPZ | c.367+6T>C (n.367+6T>C) c.373T>C (p.Phe125Leu) c.-216T>C (n.-216T>C) n.436T>C c.111+6T>C c.403T>C (p.Phe135Leu) | |
1 | g.161306783A>T | CA343348970 | MPZ | c.367+6T>A (n.367+6T>A) c.373T>A (p.Phe125Ile) c.-216T>A (n.-216T>A) n.436T>A c.111+6T>A c.403T>A (p.Phe135Ile) | |
1 | g.161306784C>A | CA1210181 | MPZ | c.367+5G>T (n.367+5G>T) c.372G>T (p.Thr124=) c.-217G>T (n.-217G>T) n.435G>T c.111+5G>T c.402G>T (p.Thr134=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.161306784C= | CA1144965065 | MPZ | c.367+5G= (n.367+5G=) c.372G= (p.Thr124=) c.-217G= (n.-217G=) n.435G= c.111+5G= c.402G= (p.Thr134=) | |
1 | g.161306784C>G | CA421405131 | MPZ | c.367+5G>C (n.367+5G>C) c.372G>C (p.Thr124=) c.-217G>C (n.-217G>C) n.435G>C c.111+5G>C c.402G>C (p.Thr134=) | |
1 | g.161306784C>T | CA1210180 | MPZ | c.367+5G>A (n.367+5G>A) c.372G>A (p.Thr124=) c.-217G>A (n.-217G>A) n.435G>A c.111+5G>A c.402G>A (p.Thr134=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.161306785G>A | CA257158 | MPZ | c.367+4C>T (n.367+4C>T) c.371C>T (p.Thr124Met) c.-218C>T (n.-218C>T) n.434C>T c.111+4C>T c.401C>T (p.Thr134Met) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
1 | g.161306785G>C | CA343348976 | MPZ | c.367+4C>G (n.367+4C>G) c.371C>G (p.Thr124Arg) c.-218C>G (n.-218C>G) n.434C>G c.111+4C>G c.401C>G (p.Thr134Arg) | |
1 | g.161306785G= | CA1141581158 | MPZ | c.367+4C= (n.367+4C=) c.371C= (p.Thr124=) c.-218C= (n.-218C=) n.434C= c.111+4C= c.401C= (p.Thr134=) | |
1 | g.161306785G>T | CA123809 | MPZ | c.367+4C>A (n.367+4C>A) c.371C>A (p.Thr124Lys) c.-218C>A (n.-218C>A) n.434C>A c.111+4C>A c.401C>A (p.Thr134Lys) | ClinVar dbSNP |
1 | g.161306786T>A | CA343348982 | MPZ | c.367+3A>T (n.367+3A>T) c.370A>T (p.Thr124Ser) c.-219A>T (n.-219A>T) n.433A>T c.111+3A>T c.400A>T (p.Thr134Ser) | ClinVar |
1 | g.161306786T>C | CA343348985 | MPZ | c.367+3A>G (n.367+3A>G) c.370A>G (p.Thr124Ala) c.-219A>G (n.-219A>G) n.433A>G c.111+3A>G c.400A>G (p.Thr134Ala) | ClinVar dbSNP |
1 | g.161306786T>G | CA343348989 | MPZ | c.367+3A>C (n.367+3A>C) c.370A>C (p.Thr124Pro) c.-219A>C (n.-219A>C) n.433A>C c.111+3A>C c.400A>C (p.Thr134Pro) | |
1 | g.161306786T= | CA1202689467 | MPZ | c.367+3A= (n.367+3A=) c.370A= (p.Thr124=) c.-219A= (n.-219A=) n.433A= c.111+3A= c.400A= (p.Thr134=) | |
1 | g.161306787G>A | CA421405134 | MPZ | c.367+2C>T (n.367+2C>T) c.369C>T (p.Gly123=) c.-220C>T (n.-220C>T) n.432C>T c.111+2C>T c.399C>T (p.Gly133=) | ClinVar |
1 | g.161306787G>C | CA421405135 | MPZ | c.367+2C>G (n.367+2C>G) c.369C>G (p.Gly123=) c.-220C>G (n.-220C>G) n.432C>G c.111+2C>G c.399C>G (p.Gly133=) | |
1 | g.161306787G>T | CA421405136 | MPZ | c.367+2C>A (n.367+2C>A) c.369C>A (p.Gly123=) c.-220C>A (n.-220C>A) n.432C>A c.111+2C>A c.399C>A (p.Gly133=) | |
1 | g.161306787_161306788delinsAG | CA10581734 | MPZ | c.367+1_367+2delinsCT (n.367+1_367+2delinsCT) c.368_369delinsCT (p.Gly123Ala) c.-221_-220delinsCT (n.-221_-220delinsCT) n.431_432delinsCT c.111+1_111+2delinsCT c.398_399delinsCT (p.Gly133Ala) | ClinVar dbSNP |
1 | g.161306787_161306788delinsGC | CA1202689472 | MPZ | c.367+1_367+2delinsGC (n.367+1_367+2delinsGC) c.368_369delinsGC (p.Gly123=) c.-221_-220delinsGC (n.-221_-220delinsGC) n.431_432delinsGC c.111+1_111+2delinsGC c.398_399delinsGC (p.Gly133=) | |
1 | g.161306788C>A | CA343348999 | MPZ | c.367+1G>T (n.367+1G>T) c.368G>T (p.Gly123Val) c.-221G>T (n.-221G>T) n.431G>T c.111+1G>T c.398G>T (p.Gly133Val) | ClinVar dbSNP |
1 | g.161306788C= | CA1202689482 | MPZ | c.367+1G= (n.367+1G=) c.368G= (p.Gly123=) c.-221G= (n.-221G=) n.431G= c.111+1G= c.398G= (p.Gly133=) | |
1 | g.161306788C>G | CA343349005 | MPZ | c.367+1G>C (n.367+1G>C) c.368G>C (p.Gly123Ala) c.-221G>C (n.-221G>C) n.431G>C c.111+1G>C c.398G>C (p.Gly133Ala) | |
1 | g.161306788C>T | CA343349009 | MPZ | c.367+1G>A (n.367+1G>A) c.368G>A (p.Gly123Asp) c.-221G>A (n.-221G>A) n.431G>A c.111+1G>A c.398G>A (p.Gly133Asp) | ClinVar dbSNP |
1 | g.161306789C>A | CA343349010 | MPZ | c.367G>T (p.Val123Leu) c.367G>T (p.Gly123Cys) c.-222G>T (n.-222G>T) n.430G>T c.111G>T c.397G>T (p.Gly133Cys) | ClinVar dbSNP |
1 | g.161306789C= | CA1141581160 | MPZ | c.367G= (p.Val123=) c.367G= (p.Gly123=) c.-222G= (n.-222G=) n.430G= c.111G= c.397G= (p.Gly133=) | |
1 | g.161306789C>G | CA343349011 | MPZ | c.367G>C (p.Val123Leu) c.367G>C (p.Gly123Arg) c.-222G>C (n.-222G>C) n.430G>C c.111G>C c.397G>C (p.Gly133Arg) | |
1 | g.161306789C>T | CA257174 | MPZ | c.367G>A (p.Val123Met) c.367G>A (p.Gly123Ser) c.-222G>A (n.-222G>A) n.430G>A c.111G>A c.397G>A (p.Gly133Ser) | ClinVar dbSNP |
1 | g.161306790A= | CA1202689491 | MPZ | c.366T= (p.Asn122=) c.-223T= (n.-223T=) n.429T= c.110T= c.396T= (p.Asn132=) | |
1 | g.161306790A>C | CA16621580 | MPZ | c.366T>G (p.Asn122Lys) c.-223T>G (n.-223T>G) n.429T>G c.110T>G c.396T>G (p.Asn132Lys) | ClinVar dbSNP |
1 | g.161306790A>G | CA421405139 | MPZ | c.366T>C (p.Asn122=) c.-223T>C (n.-223T>C) n.429T>C c.110T>C c.396T>C (p.Asn132=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.161306790A>T | CA343349032 | MPZ | c.366T>A (p.Asn122Lys) c.-223T>A (n.-223T>A) n.429T>A c.110T>A c.396T>A (p.Asn132Lys) | |
1 | g.161306791T>A | CA343349040 | MPZ | c.365A>T (p.Asn122Ile) c.-224A>T (n.-224A>T) n.428A>T c.109A>T c.395A>T (p.Asn132Ile) | |
1 | g.161306791T>C | CA343349044 | MPZ | c.365A>G (p.Asn122Ser) c.-224A>G (n.-224A>G) n.428A>G c.109A>G c.395A>G (p.Asn132Ser) | ClinVar dbSNP |
1 | g.161306791T>G | CA343349037 | MPZ | c.365A>C (p.Asn122Thr) c.-224A>C (n.-224A>C) n.428A>C c.109A>C c.395A>C (p.Asn132Thr) | |
1 | g.161306791T= | CA1202689499 | MPZ | c.365A= (p.Asn122=) c.-224A= (n.-224A=) n.428A= c.109A= c.395A= (p.Asn132=) | |
1 | g.161306792T>A | CA343349047 | MPZ | c.364A>T (p.Asn122Tyr) c.-225A>T (n.-225A>T) n.427A>T c.108A>T c.394A>T (p.Asn132Tyr) | |
1 | g.161306792T>C | CA343349045 | MPZ | c.364A>G (p.Asn122Asp) c.-225A>G (n.-225A>G) n.427A>G c.108A>G c.394A>G (p.Asn132Asp) | ClinVar dbSNP |
1 | g.161306792T>G | CA343349051 | MPZ | c.364A>C (p.Asn122His) c.-225A>C (n.-225A>C) n.427A>C c.108A>C c.394A>C (p.Asn132His) | |
1 | g.161306792T= | CA1202689507 | MPZ | c.364A= (p.Asn122=) c.-225A= (n.-225A=) n.427A= c.108A= c.394A= (p.Asn132=) | |
1 | g.161306793G>A | CA421405144 | MPZ | c.363C>T (p.Asp121=) c.-226C>T (n.-226C>T) n.426C>T c.107C>T c.393C>T (p.Asp131=) | |
1 | g.161306793G>C | CA343349053 | MPZ | c.363C>G (p.Asp121Glu) c.-226C>G (n.-226C>G) n.426C>G c.107C>G c.393C>G (p.Asp131Glu) | |
1 | g.161306793G>T | CA343349054 | MPZ | c.363C>A (p.Asp121Glu) c.-226C>A (n.-226C>A) n.426C>A c.107C>A c.393C>A (p.Asp131Glu) | |
1 | g.161306794T>A | CA343349055 | MPZ | c.362A>T (p.Asp121Val) c.-227A>T (n.-227A>T) n.425A>T c.106A>T c.392A>T (p.Asp131Val) | |
1 | g.161306794T>C | CA343349058 | MPZ | c.362A>G (p.Asp121Gly) c.-227A>G (n.-227A>G) n.425A>G c.106A>G c.392A>G (p.Asp131Gly) | ClinVar dbSNP |
1 | g.161306794T>G | CA343349063 | MPZ | c.362A>C (p.Asp121Ala) c.-227A>C (n.-227A>C) n.425A>C c.106A>C c.392A>C (p.Asp131Ala) | ClinVar dbSNP |
1 | g.161306794T= | CA1202689515 | MPZ | c.362A= (p.Asp121=) c.-227A= (n.-227A=) n.425A= c.106A= c.392A= (p.Asp131=) | |
1 | g.161306795C>A | CA343349077 | MPZ | c.361G>T (p.Asp121Tyr) c.-228G>T (n.-228G>T) n.424G>T c.105G>T c.391G>T (p.Asp131Tyr) | |
1 | g.161306795C= | CA1202689522 | MPZ | c.361G= (p.Asp121=) c.-228G= (n.-228G=) n.424G= c.105G= c.391G= (p.Asp131=) | |
1 | g.161306795C>G | CA343349088 | MPZ | c.361G>C (p.Asp121His) c.-228G>C (n.-228G>C) n.424G>C c.105G>C c.391G>C (p.Asp131His) | |
1 | g.161306795C>T | CA343349091 | MPZ | c.361G>A (p.Asp121Asn) c.-228G>A (n.-228G>A) n.424G>A c.105G>A c.391G>A (p.Asp131Asn) | ClinVar dbSNP |
1 | g.161306796A>C | CA343349097 | MPZ | c.360T>G (p.Ser120Arg) c.-229T>G (n.-229T>G) n.423T>G c.104T>G c.390T>G (p.Ser130Arg) | |
1 | g.161306796A>G | CA421405150 | MPZ | c.360T>C (p.Ser120=) c.-229T>C (n.-229T>C) n.423T>C c.104T>C c.390T>C (p.Ser130=) | gnomAD v4 |
1 | g.161306796A>T | CA343349103 | MPZ | c.360T>A (p.Ser120Arg) c.-229T>A (n.-229T>A) n.423T>A c.104T>A c.390T>A (p.Ser130Arg) | |
1 | g.161306796_161306798del | CA2586967664 | MPZ | c.358_360del (p.Ser120del) c.-231_-229del (n.-231_-229del) n.421_423del c.102_104del c.388_390del (p.Ser130del) | |
1 | g.161306797C>A | CA343349106 | MPZ | c.359G>T (p.Ser120Ile) c.-230G>T (n.-230G>T) n.422G>T c.103G>T c.389G>T (p.Ser130Ile) | |
1 | g.161306797C>G | CA343349113 | MPZ | c.359G>C (p.Ser120Thr) c.-230G>C (n.-230G>C) n.422G>C c.103G>C c.389G>C (p.Ser130Thr) | |
1 | g.161306797C>T | CA343349110 | MPZ | c.359G>A (p.Ser120Asn) c.-230G>A (n.-230G>A) n.422G>A c.103G>A c.389G>A (p.Ser130Asn) | |
1 | g.161306798T>A | CA343349117 | MPZ | c.358A>T (p.Ser120Cys) c.-231A>T (n.-231A>T) n.421A>T c.102A>T c.388A>T (p.Ser130Cys) | |
1 | g.161306798T>C | CA343349121 | MPZ | c.358A>G (p.Ser120Gly) c.-231A>G (n.-231A>G) n.421A>G c.102A>G c.388A>G (p.Ser130Gly) | ClinVar |
1 | g.161306798T>G | CA343349135 | MPZ | c.358A>C (p.Ser120Arg) c.-231A>C (n.-231A>C) n.421A>C c.102A>C c.388A>C (p.Ser130Arg) | |
1 | g.161306799G>A | CA421405153 | MPZ | c.357C>T (p.Tyr119=) c.-232C>T (n.-232C>T) n.420C>T c.101C>T c.387C>T (p.Tyr129=) | |
1 | g.161306799G>C | CA343349141 | MPZ | c.357C>G (p.Tyr119Ter) c.-232C>G (n.-232C>G) n.420C>G c.101C>G c.387C>G (p.Tyr129Ter) | |
1 | g.161306799G>T | CA343349144 | MPZ | c.357C>A (p.Tyr119Ter) c.-232C>A (n.-232C>A) n.420C>A c.101C>A c.387C>A (p.Tyr129Ter) | |
1 | g.161306801_161306803dup | CA2586967665 | MPZ | c.355_357dup (p.Tyr119_Ser120insTyr) c.-234_-232dup (n.-234_-232dup) n.418_420dup c.99_101dup c.385_387dup (p.Tyr129_Ser130insTyr) | |
1 | g.161306800T>A | CA343349147 | MPZ | c.356A>T (p.Tyr119Phe) c.-233A>T (n.-233A>T) n.419A>T c.100A>T c.386A>T (p.Tyr129Phe) | |
1 | g.161306800T>C | CA10584144 | MPZ | c.356A>G (p.Tyr119Cys) c.-233A>G (n.-233A>G) n.419A>G c.100A>G c.386A>G (p.Tyr129Cys) | ClinVar dbSNP gnomAD v4 |
1 | g.161306800T>G | CA343349148 | MPZ | c.356A>C (p.Tyr119Ser) c.-233A>C (n.-233A>C) n.419A>C c.100A>C c.386A>C (p.Tyr129Ser) | |
1 | g.161306800T= | CA1202689526 | MPZ | c.356A= (p.Tyr119=) c.-233A= (n.-233A=) n.419A= c.100A= c.386A= (p.Tyr129=) | |
1 | g.161306801A= | CA1202689535 | MPZ | c.355T= (p.Tyr119=) c.-234T= (n.-234T=) n.418T= c.99T= c.385T= (p.Tyr129=) | |
1 | g.161306801A>C | CA343349151 | MPZ | c.355T>G (p.Tyr119Asp) c.-234T>G (n.-234T>G) n.418T>G c.99T>G c.385T>G (p.Tyr129Asp) | |
1 | g.161306801A>G | CA343349158 | MPZ | c.355T>C (p.Tyr119His) c.-234T>C (n.-234T>C) n.418T>C c.99T>C c.385T>C (p.Tyr129His) | dbSNP gnomAD v4 |
1 | g.161306801A>T | CA31668727 | MPZ | c.355T>A (p.Tyr119Asn) c.-234T>A (n.-234T>A) n.418T>A c.99T>A c.385T>A (p.Tyr129Asn) | dbSNP |
1 | g.161306803_161306804insAGAAGT | CA2586967666 | MPZ | c.355_356insTCTACT (p.Asp118_Tyr119insPheTyr) c.-234_-233insTCTACT (n.-234_-233insTCTACT) n.418_419insTCTACT c.99_100insTCTACT c.385_386insTCTACT (p.Asp128_Tyr129insPheTyr) | |
1 | g.161306802G>A | CA1210182 | MPZ | c.354C>T (p.Asp118=) c.-235C>T (n.-235C>T) n.417C>T c.98C>T c.384C>T (p.Asp128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.161306802G>C | CA343349169 | MPZ | c.354C>G (p.Asp118Glu) c.-235C>G (n.-235C>G) n.417C>G c.98C>G c.384C>G (p.Asp128Glu) | |
1 | g.161306802G= | CA1202689541 | MPZ | c.354C= (p.Asp118=) c.-235C= (n.-235C=) n.417C= c.98C= c.384C= (p.Asp128=) | |
1 | g.161306802G>T | CA343349172 | MPZ | c.354C>A (p.Asp118Glu) c.-235C>A (n.-235C>A) n.417C>A c.98C>A c.384C>A (p.Asp128Glu) | |
1 | g.161306803T>A | CA343349175 | MPZ | c.353A>T (p.Asp118Val) c.-236A>T (n.-236A>T) n.416A>T c.97A>T c.383A>T (p.Asp128Val) | |
1 | g.161306803T>C | CA343349176 | MPZ | c.353A>G (p.Asp118Gly) c.-236A>G (n.-236A>G) n.416A>G c.97A>G c.383A>G (p.Asp128Gly) | |
1 | g.161306803T>G | CA343349177 | MPZ | c.353A>C (p.Asp118Ala) c.-236A>C (n.-236A>C) n.416A>C c.97A>C c.383A>C (p.Asp128Ala) | |
1 | g.161306804C>A | CA343349180 | MPZ | c.352G>T (p.Asp118Tyr) c.-237G>T (n.-237G>T) n.415G>T c.96G>T c.382G>T (p.Asp128Tyr) | |
1 | g.161306804C= | CA1202689543 | MPZ | c.352G= (p.Asp118=) c.-237G= (n.-237G=) n.415G= c.96G= c.382G= (p.Asp128=) | |
1 | g.161306804C>G | CA343349183 | MPZ | c.352G>C (p.Asp118His) c.-237G>C (n.-237G>C) n.415G>C c.96G>C c.382G>C (p.Asp128His) | gnomAD v4 |
1 | g.161306804C>T | CA343349193 | MPZ | c.352G>A (p.Asp118Asn) c.-237G>A (n.-237G>A) n.415G>A c.96G>A c.382G>A (p.Asp128Asn) | ClinVar dbSNP |
1 | g.161306805T>A | CA421405160 | MPZ | c.351A>T (p.Leu117=) c.-238A>T (n.-238A>T) n.414A>T c.95A>T c.381A>T (p.Leu127=) | |
1 | g.161306805T>C | CA421405161 | MPZ | c.351A>G (p.Leu117=) c.-238A>G (n.-238A>G) n.414A>G c.95A>G c.381A>G (p.Leu127=) | |
1 | g.161306805T>G | CA421405162 | MPZ | c.351A>C (p.Leu117=) c.-238A>C (n.-238A>C) n.414A>C c.95A>C c.381A>C (p.Leu127=) | |
1 | g.161306806A>C | CA343349194 | MPZ | c.350T>G (p.Leu117Arg) c.-239T>G (n.-239T>G) n.413T>G c.94T>G c.380T>G (p.Leu127Arg) | ClinVar dbSNP gnomAD v4 |
1 | g.161306806A>G | CA343349198 | MPZ | c.350T>C (p.Leu117Pro) c.-239T>C (n.-239T>C) n.413T>C c.94T>C c.380T>C (p.Leu127Pro) | ClinVar dbSNP |
1 | g.161306806A>T | CA343349196 | MPZ | c.350T>A (p.Leu117Gln) c.-239T>A (n.-239T>A) n.413T>A c.94T>A c.380T>A (p.Leu127Gln) | |
1 | g.161306807G>A | CA421405167 | MPZ | c.349C>T (p.Leu117=) c.-240C>T (n.-240C>T) n.412C>T c.93C>T c.379C>T (p.Leu127=) | gnomAD v4 |
1 | g.161306807G>C | CA343349215 | MPZ | c.349C>G (p.Leu117Val) c.-240C>G (n.-240C>G) n.412C>G c.93C>G c.379C>G (p.Leu127Val) | |
1 | g.161306807G>T | CA343349216 | MPZ | c.349C>A (p.Leu117Ile) c.-240C>A (n.-240C>A) n.412C>A c.93C>A c.379C>A (p.Leu127Ile) | ClinVar |
1 | g.161306808G>A | CA421405170 | MPZ | c.348C>T (p.Asn116=) c.-241C>T (n.-241C>T) n.411C>T c.92C>T c.378C>T (p.Asn126=) | |
1 | g.161306808G>C | CA343349218 | MPZ | c.348C>G (p.Asn116Lys) c.-241C>G (n.-241C>G) n.411C>G c.92C>G c.378C>G (p.Asn126Lys) | |
1 | g.161306808G>T | CA343349225 | MPZ | c.348C>A (p.Asn116Lys) c.-241C>A (n.-241C>A) n.411C>A c.92C>A c.378C>A (p.Asn126Lys) | |
1 | g.161306809T>A | CA343349227 | MPZ | c.347A>T (p.Asn116Ile) c.-242A>T (n.-242A>T) n.410A>T c.91A>T c.377A>T (p.Asn126Ile) | |
1 | g.161306809T>C | CA343914 | MPZ | c.347A>G (p.Asn116Ser) c.-242A>G (n.-242A>G) n.410A>G c.91A>G c.377A>G (p.Asn126Ser) | ClinVar dbSNP gnomAD v4 |
1 | g.161306809T>G | CA343349229 | MPZ | c.347A>C (p.Asn116Thr) c.-242A>C (n.-242A>C) n.410A>C c.91A>C c.377A>C (p.Asn126Thr) | |
1 | g.161306809T= | CA1143538431 | MPZ | c.347A= (p.Asn116=) c.-242A= (n.-242A=) n.410A= c.91A= c.377A= (p.Asn126=) | |
1 | g.161306810T>A | CA343349233 | MPZ | c.346A>T (p.Asn116Tyr) c.-243A>T (n.-243A>T) n.409A>T c.90A>T c.376A>T (p.Asn126Tyr) | ClinVar dbSNP |
1 | g.161306810T>C | CA343349235 | MPZ | c.346A>G (p.Asn116Asp) c.-243A>G (n.-243A>G) n.409A>G c.90A>G c.376A>G (p.Asn126Asp) | |
1 | g.161306810T>G | CA351446 | MPZ | c.346A>C (p.Asn116His) c.-243A>C (n.-243A>C) n.409A>C c.90A>C c.376A>C (p.Asn126His) | ClinVar dbSNP |
1 | g.161306810T= | CA1143538432 | MPZ | c.346A= (p.Asn116=) c.-243A= (n.-243A=) n.409A= c.90A= c.376A= (p.Asn126=) | |
1 | g.161306811del | CA2499214270 | MPZ | c.345del (p.His115GlnfsTer3) c.-244del (n.-244del) n.408del c.89del c.375del (p.His125GlnfsTer3) | ClinVar dbSNP |
1 | g.161306811G>A | CA421405172 | MPZ | c.345C>T (p.His115=) c.-244C>T (n.-244C>T) n.408C>T c.89C>T c.375C>T (p.His125=) | |
1 | g.161306811G>C | CA343349239 | MPZ | c.345C>G (p.His115Gln) c.-244C>G (n.-244C>G) n.408C>G c.89C>G c.375C>G (p.His125Gln) | |
1 | g.161306811G= | CA1202689559 | MPZ | c.345C= (p.His115=) c.-244C= (n.-244C=) n.408C= c.89C= c.375C= (p.His125=) | |
1 | g.161306811G>T | CA1210183 | MPZ | c.345C>A (p.His115Gln) c.-244C>A (n.-244C>A) n.408C>A c.89C>A c.375C>A (p.His125Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.161306812T>A | CA343349248 | MPZ | c.344A>T (p.His115Leu) c.-245A>T (n.-245A>T) n.407A>T c.88A>T c.374A>T (p.His125Leu) | |
1 | g.161306812T>C | CA343349251 | MPZ | c.344A>G (p.His115Arg) c.-245A>G (n.-245A>G) n.407A>G c.88A>G c.374A>G (p.His125Arg) | |
1 | g.161306812T>G | CA343349244 | MPZ | c.344A>C (p.His115Pro) c.-245A>C (n.-245A>C) n.407A>C c.88A>C c.374A>C (p.His125Pro) | |
1 | g.161306813G>A | CA343349254 | MPZ | c.343C>T (p.His115Tyr) c.-246C>T (n.-246C>T) n.406C>T c.87C>T c.373C>T (p.His125Tyr) | |
1 | g.161306813G>C | CA343349255 | MPZ | c.343C>G (p.His115Asp) c.-246C>G (n.-246C>G) n.406C>G c.87C>G c.373C>G (p.His125Asp) | |
1 | g.161306813G>T | CA343349256 | MPZ | c.343C>A (p.His115Asn) c.-246C>A (n.-246C>A) n.406C>A c.87C>A c.373C>A (p.His125Asn) | |
1 | g.161306814T>A | CA421405174 | MPZ | c.342A>T (p.Ile114=) c.-247A>T (n.-247A>T) n.405A>T c.86A>T c.372A>T (p.Ile124=) | |
1 | g.161306814T>C | CA343349257 | MPZ | c.342A>G (p.Ile114Met) c.-247A>G (n.-247A>G) n.405A>G c.86A>G c.372A>G (p.Ile124Met) | ClinVar dbSNP |
1 | g.161306814T>G | CA421405175 | MPZ | c.342A>C (p.Ile114=) c.-247A>C (n.-247A>C) n.405A>C c.86A>C c.372A>C (p.Ile124=) | |
1 | g.161306814T= | CA1202689560 | MPZ | c.342A= (p.Ile114=) c.-247A= (n.-247A=) n.405A= c.86A= c.372A= (p.Ile124=) | |
1 | g.161306815del | CA2586967667 | MPZ | c.341del (p.Ile114AsnfsTer4) c.-248del (n.-248del) n.404del c.85del c.371del (p.Ile124AsnfsTer4) | |
1 | g.161306815A= | CA1143538433 | MPZ | c.341T= (p.Ile114=) c.-248T= (n.-248T=) n.404T= c.85T= c.371T= (p.Ile124=) | |
1 | g.161306815A>C | CA343349262 | MPZ | c.341T>G (p.Ile114Arg) c.-248T>G (n.-248T>G) n.404T>G c.85T>G c.371T>G (p.Ile124Arg) | |
1 | g.161306815A>G | CA351444 | MPZ | c.341T>C (p.Ile114Thr) c.-248T>C (n.-248T>C) n.404T>C c.85T>C c.371T>C (p.Ile124Thr) | ClinVar dbSNP |
1 | g.161306815A>T | CA343349259 | MPZ | c.341T>A (p.Ile114Lys) c.-248T>A (n.-248T>A) n.404T>A c.85T>A c.371T>A (p.Ile124Lys) | ClinVar |
1 | g.161306816T>A | CA343349263 | MPZ | c.340A>T (p.Ile114Leu) c.-249A>T (n.-249A>T) n.403A>T c.84A>T c.370A>T (p.Ile124Leu) | |
1 | g.161306816T>C | CA343349265 | MPZ | c.340A>G (p.Ile114Val) c.-249A>G (n.-249A>G) n.403A>G c.84A>G c.370A>G (p.Ile124Val) | |
1 | g.161306816T>G | CA343349266 | MPZ | c.340A>C (p.Ile114Leu) c.-249A>C (n.-249A>C) n.403A>C c.84A>C c.370A>C (p.Ile124Leu) | |
1 | g.161306817G>A | CA421405180 | MPZ | c.339C>T (p.Val113=) c.-250C>T (n.-250C>T) n.402C>T c.83C>T c.369C>T (p.Val123=) | |
1 | g.161306817G>C | CA421405182 | MPZ | c.339C>G (p.Val113=) c.-250C>G (n.-250C>G) n.402C>G c.83C>G c.369C>G (p.Val123=) | |
1 | g.161306817G>T | CA421405181 | MPZ | c.339C>A (p.Val113=) c.-250C>A (n.-250C>A) n.402C>A c.83C>A c.369C>A (p.Val123=) | |
1 | g.161306818A>C | CA343349269 | MPZ | c.338T>G (p.Val113Gly) c.-251T>G (n.-251T>G) n.401T>G c.82T>G c.368T>G (p.Val123Gly) | |
1 | g.161306818A>G | CA343349271 | MPZ | c.338T>C (p.Val113Ala) c.-251T>C (n.-251T>C) n.401T>C c.82T>C c.368T>C (p.Val123Ala) | |
1 | g.161306818A>T | CA343349273 | MPZ | c.338T>A (p.Val113Asp) c.-251T>A (n.-251T>A) n.401T>A c.82T>A c.368T>A (p.Val123Asp) | |
1 | g.161306819C>A | CA343905 | MPZ | c.337G>T (p.Val113Phe) c.-252G>T (n.-252G>T) n.400G>T c.81G>T c.367G>T (p.Val123Phe) | ClinVar dbSNP gnomAD v4 |
1 | g.[161306819C>A;161306915G>A] | CA356597 | MPZ | c.[241C>T;337G>T] (p.[His81Tyr;Val113Phe]) c.[-348C>T;-252G>T] (n.[-348C>T;-252G>T]) n.[304C>T;400G>T] c.[271C>T;367G>T] (p.[His91Tyr;Val123Phe]) | |
1 | g.161306819C= | CA1143538434 | MPZ | c.337G= (p.Val113=) c.-252G= (n.-252G=) n.400G= c.81G= c.367G= (p.Val123=) | |
1 | g.161306819C>G | CA343349279 | MPZ | c.337G>C (p.Val113Leu) c.-252G>C (n.-252G>C) n.400G>C c.81G>C c.367G>C (p.Val123Leu) | |
1 | g.161306819C>T | CA343349276 | MPZ | c.337G>A (p.Val113Ile) c.-252G>A (n.-252G>A) n.400G>A c.81G>A c.367G>A (p.Val123Ile) | |
1 | g.161306819_161306823delinsCAATG | CA1202689573 | MPZ | c.333_337delinsCATTG (p.Ser111=) c.-256_-252delinsCATTG (n.-256_-252delinsCATTG) n.396_400delinsCATTG c.77_81delinsCATTG c.363_367delinsCATTG (p.Ser121=) | |
1 | g.161306820A>C | CA343349280 | MPZ | c.336T>G (p.Ile112Met) c.-253T>G (n.-253T>G) n.399T>G c.80T>G c.366T>G (p.Ile122Met) | |
1 | g.161306820A>G | CA421405187 | MPZ | c.336T>C (p.Ile112=) c.-253T>C (n.-253T>C) n.399T>C c.80T>C c.366T>C (p.Ile122=) | gnomAD v4 |
1 | g.161306820A>T | CA421405188 | MPZ | c.336T>A (p.Ile112=) c.-253T>A (n.-253T>A) n.399T>A c.80T>A c.366T>A (p.Ile122=) | gnomAD v3 gnomAD v4 |
1 | g.161306820_161306823del | CA916080240 | MPZ | c.333_336del (p.Ile112SerfsTer5) c.-256_-253del (n.-256_-253del) n.396_399del c.77_80del c.363_366del (p.Ile122SerfsTer5) | ClinVar dbSNP |
1 | g.161306821A= | CA1202689584 | MPZ | c.335T= (p.Ile112=) c.-254T= (n.-254T=) n.398T= c.79T= c.365T= (p.Ile122=) | |
1 | g.161306821A>C | CA343349283 | MPZ | c.335T>G (p.Ile112Ser) c.-254T>G (n.-254T>G) n.398T>G c.79T>G c.365T>G (p.Ile122Ser) | ClinVar dbSNP |
1 | g.161306821A>G | CA343349284 | MPZ | c.335T>C (p.Ile112Thr) c.-254T>C (n.-254T>C) n.398T>C c.79T>C c.365T>C (p.Ile122Thr) | ClinVar dbSNP |
1 | g.161306821A>T | CA343349286 | MPZ | c.335T>A (p.Ile112Asn) c.-254T>A (n.-254T>A) n.398T>A c.79T>A c.365T>A (p.Ile122Asn) | |
1 | g.161306822T>A | CA343349287 | MPZ | c.334A>T (p.Ile112Phe) c.-255A>T (n.-255A>T) n.397A>T c.78A>T c.364A>T (p.Ile122Phe) | |
1 | g.161306822T>C | CA343349289 | MPZ | c.334A>G (p.Ile112Val) c.-255A>G (n.-255A>G) n.397A>G c.78A>G c.364A>G (p.Ile122Val) | |
1 | g.161306822T>G | CA343349290 | MPZ | c.334A>C (p.Ile112Leu) c.-255A>C (n.-255A>C) n.397A>C c.78A>C c.364A>C (p.Ile122Leu) | |
1 | g.161306823G>A | CA421405190 | MPZ | c.333C>T (p.Ser111=) c.-256C>T (n.-256C>T) n.396C>T c.77C>T c.363C>T (p.Ser121=) | ClinVar dbSNP gnomAD v4 |
1 | g.161306823G>C | CA421405191 | MPZ | c.333C>G (p.Ser111=) c.-256C>G (n.-256C>G) n.396C>G c.77C>G c.363C>G (p.Ser121=) | |
1 | g.161306823G>T | CA421405193 | MPZ | c.333C>A (p.Ser111=) c.-256C>A (n.-256C>A) n.396C>A c.77C>A c.363C>A (p.Ser121=) | |
1 | g.161306824G>A | CA343349292 | MPZ | c.332C>T (p.Ser111Phe) c.-257C>T (n.-257C>T) n.395C>T c.76C>T c.362C>T (p.Ser121Phe) | ClinVar dbSNP |
1 | g.161306824G>C | CA343349293 | MPZ | c.332C>G (p.Ser111Cys) c.-257C>G (n.-257C>G) n.395C>G c.76C>G c.362C>G (p.Ser121Cys) | ClinVar dbSNP |
1 | g.161306824G= | CA1202689595 | MPZ | c.332C= (p.Ser111=) c.-257C= (n.-257C=) n.395C= c.76C= c.362C= (p.Ser121=) | |
1 | g.161306824G>T | CA343349294 | MPZ | c.332C>A (p.Ser111Tyr) c.-257C>A (n.-257C>A) n.395C>A c.76C>A c.362C>A (p.Ser121Tyr) | ClinVar dbSNP |
1 | g.161306825_161306826dup | CA2648773430 | MPZ | c.331_332dup (p.Ile112ProfsTer7) c.-258_-257dup (n.-258_-257dup) n.394_395dup c.75_76dup c.361_362dup (p.Ile122ProfsTer7) | gnomAD v4 |
1 | g.161306825A= | CA1202689602 | MPZ | c.331T= (p.Ser111=) c.-258T= (n.-258T=) n.394T= c.75T= c.361T= (p.Ser121=) | |
1 | g.161306825A>C | CA343349295 | MPZ | c.331T>G (p.Ser111Ala) c.-258T>G (n.-258T>G) n.394T>G c.75T>G c.361T>G (p.Ser121Ala) | |
1 | g.161306825A>G | CA343349296 | MPZ | c.331T>C (p.Ser111Pro) c.-258T>C (n.-258T>C) n.394T>C c.75T>C c.361T>C (p.Ser121Pro) | ClinVar dbSNP |
1 | g.161306825A>T | CA343349301 | MPZ | c.331T>A (p.Ser111Thr) c.-258T>A (n.-258T>A) n.394T>A c.75T>A c.361T>A (p.Ser121Thr) | |
1 | g.161306826G>A | CA421405199 | MPZ | c.330C>T (p.Gly110=) c.-259C>T (n.-259C>T) n.393C>T c.74C>T c.360C>T (p.Gly120=) | gnomAD v4 |
1 | g.161306826G>C | CA421405197 | MPZ | c.330C>G (p.Gly110=) c.-259C>G (n.-259C>G) n.393C>G c.74C>G c.360C>G (p.Gly120=) | |
1 | g.161306826G>T | CA421405198 | MPZ | c.330C>A (p.Gly110=) c.-259C>A (n.-259C>A) n.393C>A c.74C>A c.360C>A (p.Gly120=) | |
1 | g.161306827C>A | CA343349309 | MPZ | c.329G>T (p.Gly110Val) c.-260G>T (n.-260G>T) n.392G>T c.73G>T c.359G>T (p.Gly120Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.161306827C= | CA1202689603 | MPZ | c.329G= (p.Gly110=) c.-260G= (n.-260G=) n.392G= c.73G= c.359G= (p.Gly120=) | |
1 | g.161306827C>G | CA343349306 | MPZ | c.329G>C (p.Gly110Ala) c.-260G>C (n.-260G>C) n.392G>C c.73G>C c.359G>C (p.Gly120Ala) | |
1 | g.161306827C>T | CA343349304 | MPZ | c.329G>A (p.Gly110Asp) c.-260G>A (n.-260G>A) n.392G>A c.73G>A c.359G>A (p.Gly120Asp) | ClinVar dbSNP |
1 | g.161306828C>A | CA343349314 | MPZ | c.328G>T (p.Gly110Cys) c.-261G>T (n.-261G>T) n.391G>T c.72G>T c.358G>T (p.Gly120Cys) | |
1 | g.161306828C= | CA1202689604 | MPZ | c.328G= (p.Gly110=) c.-261G= (n.-261G=) n.391G= c.72G= c.358G= (p.Gly120=) | |
1 | g.161306828C>G | CA343349316 | MPZ | c.328G>C (p.Gly110Arg) c.-261G>C (n.-261G>C) n.391G>C c.72G>C c.358G>C (p.Gly120Arg) | |
1 | g.161306828C>T | CA343349318 | MPZ | c.328G>A (p.Gly110Ser) c.-261G>A (n.-261G>A) n.391G>A c.72G>A c.358G>A (p.Gly120Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.161306829A= | CA1202689605 | MPZ | c.327T= (p.Asp109=) c.-262T= (n.-262T=) n.390T= c.71T= c.357T= (p.Asp119=) | |
1 | g.161306829A>C | CA343349321 | MPZ | c.327T>G (p.Asp109Glu) c.-262T>G (n.-262T>G) n.390T>G c.71T>G c.357T>G (p.Asp119Glu) | |
1 | g.161306829A>G | CA421405203 | MPZ | c.327T>C (p.Asp109=) c.-262T>C (n.-262T>C) n.390T>C c.71T>C c.357T>C (p.Asp119=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.161306829A>T | CA343349323 | MPZ | c.327T>A (p.Asp109Glu) c.-262T>A (n.-262T>A) n.390T>A c.71T>A c.357T>A (p.Asp119Glu) | ClinVar dbSNP |
1 | g.161306830T>A | CA343349326 | MPZ | c.326A>T (p.Asp109Val) c.-263A>T (n.-263A>T) n.389A>T c.70A>T c.356A>T (p.Asp119Val) | |
1 | g.161306830T>C | CA343349329 | MPZ | c.326A>G (p.Asp109Gly) c.-263A>G (n.-263A>G) n.389A>G c.70A>G c.356A>G (p.Asp119Gly) | ClinVar dbSNP |
1 | g.161306830T>G | CA343349332 | MPZ | c.326A>C (p.Asp109Ala) c.-263A>C (n.-263A>C) n.389A>C c.70A>C c.356A>C (p.Asp119Ala) | |
1 | g.161306830T= | CA1202689606 | MPZ | c.326A= (p.Asp109=) c.-263A= (n.-263A=) n.389A= c.70A= c.356A= (p.Asp119=) | |
1 | g.161306831C>A | CA343349336 | MPZ | c.325G>T (p.Asp109Tyr) c.-264G>T (n.-264G>T) n.388G>T c.69G>T c.355G>T (p.Asp119Tyr) | |
1 | g.161306831C= | CA1202689615 | MPZ | c.325G= (p.Asp109=) c.-264G= (n.-264G=) n.388G= c.69G= c.355G= (p.Asp119=) | |
1 | g.161306831C>G | CA343349338 | MPZ | c.325G>C (p.Asp109His) c.-264G>C (n.-264G>C) n.388G>C c.69G>C c.355G>C (p.Asp119His) | ClinVar dbSNP |
1 | g.161306831C>T | CA16609894 | MPZ | c.325G>A (p.Asp109Asn) c.-264G>A (n.-264G>A) n.388G>A c.69G>A c.355G>A (p.Asp119Asn) | ClinVar dbSNP |
1 | g.161306832C>A | CA343349343 | MPZ | c.324G>T (p.Lys108Asn) c.-265G>T (n.-265G>T) n.387G>T c.68G>T c.354G>T (p.Lys118Asn) | |
1 | g.161306832C= | CA1202689622 | MPZ | c.324G= (p.Lys108=) c.-265G= (n.-265G=) n.387G= c.68G= c.354G= (p.Lys118=) | |
1 | g.161306832C>G | CA343349345 | MPZ | c.324G>C (p.Lys108Asn) c.-265G>C (n.-265G>C) n.387G>C c.68G>C c.354G>C (p.Lys118Asn) | |
1 | g.161306832C>T | CA421405207 | MPZ | c.324G>A (p.Lys108=) c.-265G>A (n.-265G>A) n.387G>A c.68G>A c.354G>A (p.Lys118=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.161306833T>A | CA343349351 | MPZ | c.323A>T (p.Lys108Met) c.-266A>T (n.-266A>T) n.386A>T c.67A>T c.353A>T (p.Lys118Met) | dbSNP |
1 | g.161306833T>C | CA343349356 | MPZ | c.323A>G (p.Lys108Arg) c.-266A>G (n.-266A>G) n.386A>G c.67A>G c.353A>G (p.Lys118Arg) | ClinVar |
1 | g.161306833T>G | CA343349349 | MPZ | c.323A>C (p.Lys108Thr) c.-266A>C (n.-266A>C) n.386A>C c.67A>C c.353A>C (p.Lys118Thr) | |
1 | g.161306834del | CA2573130608 | MPZ | c.323del (p.Lys108ArgfsTer10) c.-266del (n.-266del) n.386del c.67del c.353del (p.Lys118ArgfsTer10) | ClinVar dbSNP |
1 | g.161306834T>A | CA343349360 | MPZ | c.322A>T (p.Lys108Ter) c.-267A>T (n.-267A>T) n.385A>T c.66A>T c.352A>T (p.Lys118Ter) | |
1 | g.161306834T>C | CA343349362 | MPZ | c.322A>G (p.Lys108Glu) c.-267A>G (n.-267A>G) n.385A>G c.66A>G c.352A>G (p.Lys118Glu) | ClinVar |
1 | g.161306834T>G | CA343349365 | MPZ | c.322A>C (p.Lys108Gln) c.-267A>C (n.-267A>C) n.385A>C c.66A>C c.352A>C (p.Lys118Gln) | |
1 | g.161306835C>A | CA343349367 | MPZ | c.321G>T (p.Trp107Cys) c.-268G>T (n.-268G>T) n.384G>T c.65G>T c.351G>T (p.Trp117Cys) | |
1 | g.161306835C= | CA1202689625 | MPZ | c.321G= (p.Trp107=) c.-268G= (n.-268G=) n.384G= c.65G= c.351G= (p.Trp117=) | |
1 | g.161306835C>G | CA343349371 | MPZ | c.321G>C (p.Trp107Cys) c.-268G>C (n.-268G>C) n.384G>C c.65G>C c.351G>C (p.Trp117Cys) | |
1 | g.161306835C>T | CA31668753 | MPZ | c.321G>A (p.Trp107Ter) c.-268G>A (n.-268G>A) n.384G>A c.65G>A c.351G>A (p.Trp117Ter) | dbSNP |
1 | g.161306836C>A | CA343349377 | MPZ | c.320G>T (p.Trp107Leu) c.-269G>T (n.-269G>T) n.383G>T c.64G>T c.350G>T (p.Trp117Leu) | |
1 | g.161306836C>G | CA343349379 | MPZ | c.320G>C (p.Trp107Ser) c.-269G>C (n.-269G>C) n.383G>C c.64G>C c.350G>C (p.Trp117Ser) | |
1 | g.161306836C>T | CA343349381 | MPZ | c.320G>A (p.Trp107Ter) c.-269G>A (n.-269G>A) n.383G>A c.64G>A c.350G>A (p.Trp117Ter) | COSMIC COSMIC |
1 | g.161306837A= | CA1202689628 | MPZ | c.319T= (p.Trp107=) c.-270T= (n.-270T=) n.382T= c.63T= c.349T= (p.Trp117=) | |
1 | g.161306837A>C | CA31668761 | MPZ | c.319T>G (p.Trp107Gly) c.-270T>G (n.-270T>G) n.382T>G c.63T>G c.349T>G (p.Trp117Gly) | dbSNP |
1 | g.161306837A>G | CA343349388 | MPZ | c.319T>C (p.Trp107Arg) c.-270T>C (n.-270T>C) n.382T>C c.63T>C c.349T>C (p.Trp117Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.161306837A>T | CA343349390 | MPZ | c.319T>A (p.Trp107Arg) c.-270T>A (n.-270T>A) n.382T>A c.63T>A c.349T>A (p.Trp117Arg) | ClinVar dbSNP |
1 | g.161306838G>A | CA421405214 | MPZ | c.318C>T (p.Arg106=) c.-271C>T (n.-271C>T) n.381C>T c.62C>T c.348C>T (p.Arg116=) | |
1 | g.161306838G>C | CA421405215 | MPZ | c.318C>G (p.Arg106=) c.-271C>G (n.-271C>G) n.381C>G c.62C>G c.348C>G (p.Arg116=) | |
1 | g.161306838G>T | CA421405216 | MPZ | c.318C>A (p.Arg106=) c.-271C>A (n.-271C>A) n.381C>A c.62C>A c.348C>A (p.Arg116=) | |
1 | g.161306839C>A | CA343349397 | MPZ | c.317G>T (p.Arg106Leu) c.-272G>T (n.-272G>T) n.380G>T c.61G>T c.347G>T (p.Arg116Leu) | |
1 | g.161306839C= | CA1142029141 | MPZ | c.317G= (p.Arg106=) c.-272G= (n.-272G=) n.380G= c.61G= c.347G= (p.Arg116=) | |
1 | g.161306839C>G | CA343349393 | MPZ | c.317G>C (p.Arg106Pro) c.-272G>C (n.-272G>C) n.380G>C c.61G>C c.347G>C (p.Arg116Pro) | ClinVar dbSNP gnomAD v4 |
1 | g.161306839C>T | CA1210184 | MPZ | c.317G>A (p.Arg106His) c.-272G>A (n.-272G>A) n.380G>A c.61G>A c.347G>A (p.Arg116His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.161306840G>A | CA343349401 | MPZ | c.316C>T (p.Arg106Cys) c.-273C>T (n.-273C>T) n.379C>T c.60C>T c.346C>T (p.Arg116Cys) | ClinVar dbSNP gnomAD v4 |
1 | g.161306840G>C | CA343349406 | MPZ | c.316C>G (p.Arg106Gly) c.-273C>G (n.-273C>G) n.379C>G c.60C>G c.346C>G (p.Arg116Gly) | |
1 | g.161306840G= | CA1202689643 | MPZ | c.316C= (p.Arg106=) c.-273C= (n.-273C=) n.379C= c.60C= c.346C= (p.Arg116=) | |
1 | g.161306840G>T | CA343349408 | MPZ | c.316C>A (p.Arg106Ser) c.-273C>A (n.-273C>A) n.379C>A c.60C>A c.346C>A (p.Arg116Ser) | dbSNP |
1 | g.161306841A>C | CA421405221 | MPZ | c.315T>G (p.Pro105=) c.-274T>G (n.-274T>G) n.378T>G c.59T>G c.345T>G (p.Pro115=) | |
1 | g.161306841A>G | CA421405222 | MPZ | c.315T>C (p.Pro105=) c.-274T>C (n.-274T>C) n.378T>C c.59T>C c.345T>C (p.Pro115=) | |
1 | g.161306841A>T | CA421405223 | MPZ | c.315T>A (p.Pro105=) c.-274T>A (n.-274T>A) n.378T>A c.59T>A c.345T>A (p.Pro115=) | |
1 | g.161306842G>A | CA334615 | MPZ | c.314C>T (p.Pro105Leu) c.-275C>T (n.-275C>T) n.377C>T c.58C>T c.344C>T (p.Pro115Leu) | ClinVar dbSNP |
1 | g.161306842G>C | CA343349413 | MPZ | c.314C>G (p.Pro105Arg) c.-275C>G (n.-275C>G) n.377C>G c.58C>G c.344C>G (p.Pro115Arg) | |
1 | g.161306842G= | CA1202689647 | MPZ | c.314C= (p.Pro105=) c.-275C= (n.-275C=) n.377C= c.58C= c.344C= (p.Pro115=) | |
1 | g.161306842G>T | CA343349416 | MPZ | c.314C>A (p.Pro105His) c.-275C>A (n.-275C>A) n.377C>A c.58C>A c.344C>A (p.Pro115His) | |
1 | g.161306843G>A | CA343349420 | MPZ | c.313C>T (p.Pro105Ser) c.-276C>T (n.-276C>T) n.376C>T c.57C>T c.343C>T (p.Pro115Ser) | ClinVar dbSNP |
1 | g.161306843G>C | CA31668784 | MPZ | c.313C>G (p.Pro105Ala) c.-276C>G (n.-276C>G) n.376C>G c.57C>G c.343C>G (p.Pro115Ala) | dbSNP |
1 | g.161306843G= | CA1141581163 | MPZ | c.313C= (p.Pro105=) c.-276C= (n.-276C=) n.376C= c.57C= c.343C= (p.Pro115=) | |
1 | g.161306843G>T | CA257177 | MPZ | c.313C>A (p.Pro105Thr) c.-276C>A (n.-276C>A) n.376C>A c.57C>A c.343C>A (p.Pro115Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.161306844G>A | CA421405227 | MPZ | c.312C>T (p.Asp104=) c.-277C>T (n.-277C>T) n.375C>T c.56C>T c.342C>T (p.Asp114=) | |
1 | g.161306844G>C | CA343349427 | MPZ | c.312C>G (p.Asp104Glu) c.-277C>G (n.-277C>G) n.375C>G c.56C>G c.342C>G (p.Asp114Glu) | |
1 | g.161306844G= | CA1202689659 | MPZ | c.312C= (p.Asp104=) c.-277C= (n.-277C=) n.375C= c.56C= c.342C= (p.Asp114=) | |
1 | g.161306844G>T | CA343349430 | MPZ | c.312C>A (p.Asp104Glu) c.-277C>A (n.-277C>A) n.375C>A c.56C>A c.342C>A (p.Asp114Glu) | ClinVar dbSNP gnomAD v4 |
1 | g.161306845T>A | CA343349440 | MPZ | c.311A>T (p.Asp104Val) c.-278A>T (n.-278A>T) n.374A>T c.55A>T c.341A>T (p.Asp114Val) | |
1 | g.161306845T>C | CA343349437 | MPZ | c.311A>G (p.Asp104Gly) c.-278A>G (n.-278A>G) n.374A>G c.55A>G c.341A>G (p.Asp114Gly) | ClinVar dbSNP |
1 | g.161306845T>G | CA343349434 | MPZ | c.311A>C (p.Asp104Ala) c.-278A>C (n.-278A>C) n.374A>C c.55A>C c.341A>C (p.Asp114Ala) | |
1 | g.161306845T= | CA1202689662 | MPZ | c.311A= (p.Asp104=) c.-278A= (n.-278A=) n.374A= c.55A= c.341A= (p.Asp114=) | |
1 | g.161306845_161306851delinsTCCCCTA | CA1202689663 | MPZ | c.305_311delinsTAGGGGA (p.Val102=) c.-284_-278delinsTAGGGGA (n.-284_-278delinsTAGGGGA) n.368_374delinsTAGGGGA c.49_55delinsTAGGGGA c.335_341delinsTAGGGGA (p.Val112=) | |
1 | g.161306846C>A | CA338924 | MPZ | c.310G>T (p.Asp104Tyr) c.-279G>T (n.-279G>T) n.373G>T c.54G>T c.340G>T (p.Asp114Tyr) | ClinVar dbSNP |
1 | g.161306846C= | CA1202689669 | MPZ | c.310G= (p.Asp104=) c.-279G= (n.-279G=) n.373G= c.54G= c.340G= (p.Asp114=) | |
1 | g.161306846C>G | CA343349448 | MPZ | c.310G>C (p.Asp104His) c.-279G>C (n.-279G>C) n.373G>C c.54G>C c.340G>C (p.Asp114His) | |
1 | g.161306846C>T | CA1210185 | MPZ | c.310G>A (p.Asp104Asn) c.-279G>A (n.-279G>A) n.373G>A c.54G>A c.340G>A (p.Asp114Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.161306849_161306854del | CA16609903 | MPZ | c.305_310del (p.Val102_Gly103del) c.-284_-279del (n.-284_-279del) n.368_373del c.49_54del c.335_340del (p.Val112_Gly113del) | ClinVar dbSNP |
1 | g.161306847C>A | CA421405234 | MPZ | c.309G>T (p.Gly103=) c.-280G>T (n.-280G>T) n.372G>T c.53G>T c.339G>T (p.Gly113=) | ClinVar dbSNP |
1 | g.161306847C= | CA1202689681 | MPZ | c.309G= (p.Gly103=) c.-280G= (n.-280G=) n.372G= c.53G= c.339G= (p.Gly113=) | |
1 | g.161306847C>G | CA421405235 | MPZ | c.309G>C (p.Gly103=) c.-280G>C (n.-280G>C) n.372G>C c.53G>C c.339G>C (p.Gly113=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.161306847C>T | CA421405232 | MPZ | c.309G>A (p.Gly103=) c.-280G>A (n.-280G>A) n.372G>A c.53G>A c.339G>A (p.Gly113=) | gnomAD v4 |
1 | g.161306848C>A | CA343349452 | MPZ | c.308G>T (p.Gly103Val) c.-281G>T (n.-281G>T) n.371G>T c.52G>T c.338G>T (p.Gly113Val) | |
1 | g.161306848C= | CA1141581165 | MPZ | c.308G= (p.Gly103=) c.-281G= (n.-281G=) n.371G= c.52G= c.338G= (p.Gly113=) | |
1 | g.161306848C>G | CA343349456 | MPZ | c.308G>C (p.Gly103Ala) c.-281G>C (n.-281G>C) n.371G>C c.52G>C c.338G>C (p.Gly113Ala) | |
1 | g.161306848C>T | CA257164 | MPZ | c.308G>A (p.Gly103Glu) c.-281G>A (n.-281G>A) n.371G>A c.52G>A c.338G>A (p.Gly113Glu) | ClinVar dbSNP |
1 | g.161306849C>A | CA343349460 | MPZ | c.307G>T (p.Gly103Trp) c.-282G>T (n.-282G>T) n.370G>T c.51G>T c.337G>T (p.Gly113Trp) | ClinVar dbSNP |
1 | g.161306849C= | CA1202689696 | MPZ | c.307G= (p.Gly103=) c.-282G= (n.-282G=) n.370G= c.51G= c.337G= (p.Gly113=) | |
1 | g.161306849C>G | CA343349462 | MPZ | c.307G>C (p.Gly103Arg) c.-282G>C (n.-282G>C) n.370G>C c.51G>C c.337G>C (p.Gly113Arg) | |
1 | g.161306849C>T | CA343349465 | MPZ | c.307G>A (p.Gly103Arg) c.-282G>A (n.-282G>A) n.370G>A c.51G>A c.337G>A (p.Gly113Arg) | |
1 | g.161306849_161306850delinsCT | CA1202689694 | MPZ | c.306_307delinsAG (p.Val102=) c.-283_-282delinsAG (n.-283_-282delinsAG) n.369_370delinsAG c.50_51delinsAG c.336_337delinsAG (p.Val112=) | |
1 | g.161306850del | CA343903 | MPZ | c.306del (p.Asp104ThrfsTer14) c.-283del (n.-283del) n.369del c.50del c.336del (p.Asp114ThrfsTer14) | ClinVar dbSNP |
1 | g.161306850T>A | CA421405238 | MPZ | c.306A>T (p.Val102=) c.-283A>T (n.-283A>T) n.369A>T c.50A>T c.336A>T (p.Val112=) | |
1 | g.161306850T>C | CA421405241 | MPZ | c.306A>G (p.Val102=) c.-283A>G (n.-283A>G) n.369A>G c.50A>G c.336A>G (p.Val112=) | |
1 | g.161306850T>G | CA421405240 | MPZ | c.306A>C (p.Val102=) c.-283A>C (n.-283A>C) n.369A>C c.50A>C c.336A>C (p.Val112=) | |
1 | g.161306850T= | CA1143538436 | MPZ | c.306A= (p.Val102=) c.-283A= (n.-283A=) n.369A= c.50A= c.336A= (p.Val112=) | |
1 | g.161306851A>C | CA343349478 | MPZ | c.305T>G (p.Val102Gly) c.-284T>G (n.-284T>G) n.368T>G c.49T>G c.335T>G (p.Val112Gly) | |
1 | g.161306851A>G | CA343349481 | MPZ | c.305T>C (p.Val102Ala) c.-284T>C (n.-284T>C) n.368T>C c.49T>C c.335T>C (p.Val112Ala) | |
1 | g.161306851A>T | CA343349484 | MPZ | c.305T>A (p.Val102Glu) c.-284T>A (n.-284T>A) n.368T>A c.49T>A c.335T>A (p.Val112Glu) | ClinVar dbSNP |
1 | g.161306851_161306852insG | CA2580061338 | MPZ | c.304_305insC (p.Val102AlafsTer20) c.-285_-284insC (n.-285_-284insC) n.367_368insC c.48_49insC c.334_335insC (p.Val112AlafsTer20) | ClinVar |
1 | g.161306852C>A | CA343349490 | MPZ | c.304G>T (p.Val102Leu) c.-285G>T (n.-285G>T) n.367G>T c.48G>T c.334G>T (p.Val112Leu) | |
1 | g.161306852C= | CA1202689703 | MPZ | c.304G= (p.Val102=) c.-285G= (n.-285G=) n.367G= c.48G= c.334G= (p.Val112=) | |
1 | g.161306852C>G | CA343349493 | MPZ | c.304G>C (p.Val102Leu) c.-285G>C (n.-285G>C) n.367G>C c.48G>C c.334G>C (p.Val112Leu) | |
1 | g.161306852C>T | CA31668830 | MPZ | c.304G>A (p.Val102Ile) c.-285G>A (n.-285G>A) n.367G>A c.48G>A c.334G>A (p.Val112Ile) | dbSNP gnomAD v4 |
1 | g.161306852_161306854dup | CA2586967668 | MPZ | c.302_304dup (p.Trp101_Val102insGly) c.-287_-285dup (n.-287_-285dup) n.365_367dup c.46_48dup c.332_334dup (p.Trp111_Val112insGly) | |
1 | g.161306854del | CA2580617940 | MPZ | c.304del (p.Val102Ter) c.-285del (n.-285del) n.367del c.48del c.334del (p.Val112Ter) | ClinVar |
1 | g.161306853C>A | CA343349500 | MPZ | c.303G>T (p.Trp101Cys) c.-286G>T (n.-286G>T) n.366G>T c.47G>T c.333G>T (p.Trp111Cys) | ClinVar dbSNP |
1 | g.161306853C= | CA1202689709 | MPZ | c.303G= (p.Trp101=) c.-286G= (n.-286G=) n.366G= c.47G= c.333G= (p.Trp111=) | |
1 | g.161306853C>G | CA343349506 | MPZ | c.303G>C (p.Trp101Cys) c.-286G>C (n.-286G>C) n.366G>C c.47G>C c.333G>C (p.Trp111Cys) | ClinVar dbSNP |
1 | g.161306853C>T | CA343349510 | MPZ | c.303G>A (p.Trp101Ter) c.-286G>A (n.-286G>A) n.366G>A c.47G>A c.333G>A (p.Trp111Ter) | ClinVar dbSNP |
1 | g.161306854C>A | CA343349513 | MPZ | c.302G>T (p.Trp101Leu) c.-287G>T (n.-287G>T) n.365G>T c.46G>T c.332G>T (p.Trp111Leu) | |
1 | g.161306854C= | CA1202689716 | MPZ | c.302G= (p.Trp101=) c.-287G= (n.-287G=) n.365G= c.46G= c.332G= (p.Trp111=) | |
1 | g.161306854C>G | CA343349516 | MPZ | c.302G>C (p.Trp101Ser) c.-287G>C (n.-287G>C) n.365G>C c.46G>C c.332G>C (p.Trp111Ser) | |
1 | g.161306854C>T | CA31668832 | MPZ | c.302G>A (p.Trp101Ter) c.-287G>A (n.-287G>A) n.365G>A c.46G>A c.332G>A (p.Trp111Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.161306855A= | CA1202689719 | MPZ | c.301T= (p.Trp101=) c.-288T= (n.-288T=) n.364T= c.45T= c.331T= (p.Trp111=) | |
1 | g.161306855A>C | CA343349518 | MPZ | c.301T>G (p.Trp101Gly) c.-288T>G (n.-288T>G) n.364T>G c.45T>G c.331T>G (p.Trp111Gly) | |
1 | g.161306855A>G | CA16609892 | MPZ | c.301T>C (p.Trp101Arg) c.-288T>C (n.-288T>C) n.364T>C c.45T>C c.331T>C (p.Trp111Arg) | ClinVar dbSNP |
1 | g.161306855A>T | CA343349532 | MPZ | c.301T>A (p.Trp101Arg) c.-288T>A (n.-288T>A) n.364T>A c.45T>A c.331T>A (p.Trp111Arg) | |
1 | g.161306855dup | CA2580061339 | MPZ | c.301dup (p.Trp101LeufsTer21) c.-288dup (n.-288dup) n.364dup c.45dup c.331dup (p.Trp111LeufsTer21) | ClinVar gnomAD v4 |
1 | g.161306856C>A | CA343349536 | MPZ | c.300G>T (p.Gln100His) c.-289G>T (n.-289G>T) n.363G>T c.44G>T c.330G>T (p.Gln110His) | |
1 | g.161306856C= | CA1149053100 | MPZ | c.300G= (p.Gln100=) c.-289G= (n.-289G=) n.363G= c.44G= c.330G= (p.Gln110=) | |
1 | g.161306856C>G | CA343349539 | MPZ | c.300G>C (p.Gln100His) c.-289G>C (n.-289G>C) n.363G>C c.44G>C c.330G>C (p.Gln110His) | |
1 | g.161306856C>T | CA1210186 | MPZ | c.300G>A (p.Gln100=) c.-289G>A (n.-289G>A) n.363G>A c.44G>A c.330G>A (p.Gln110=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.161306857T>A | CA343349549 | MPZ | c.299A>T (p.Gln100Leu) c.-290A>T (n.-290A>T) n.362A>T c.43A>T c.329A>T (p.Gln110Leu) | |
1 | g.161306857T>C | CA343349552 | MPZ | c.299A>G (p.Gln100Arg) c.-290A>G (n.-290A>G) n.362A>G c.43A>G c.329A>G (p.Gln110Arg) | COSMIC COSMIC |
1 | g.161306857T>G | CA343349554 | MPZ | c.299A>C (p.Gln100Pro) c.-290A>C (n.-290A>C) n.362A>C c.43A>C c.329A>C (p.Gln110Pro) | |
1 | g.161306858G>A | CA343349564 | MPZ | c.298C>T (p.Gln100Ter) c.-291C>T (n.-291C>T) n.361C>T c.42C>T c.328C>T (p.Gln110Ter) | ClinVar dbSNP |
1 | g.161306858G>C | CA343349561 | MPZ | c.298C>G (p.Gln100Glu) c.-291C>G (n.-291C>G) n.361C>G c.42C>G c.328C>G (p.Gln110Glu) | |
1 | g.161306858G= | CA1202689720 | MPZ | c.298C= (p.Gln100=) c.-291C= (n.-291C=) n.361C= c.42C= c.328C= (p.Gln110=) | |
1 | g.161306858G>T | CA343349558 | MPZ | c.298C>A (p.Gln100Lys) c.-291C>A (n.-291C>A) n.361C>A c.42C>A c.328C>A (p.Gln110Lys) | |
1 | g.161306859G>A | CA421405248 | MPZ | c.297C>T (p.Ile99=) c.-292C>T (n.-292C>T) n.360C>T c.41C>T c.327C>T (p.Ile109=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.161306859G>C | CA343349567 | MPZ | c.297C>G (p.Ile99Met) c.-292C>G (n.-292C>G) n.360C>G c.41C>G c.327C>G (p.Ile109Met) | |
1 | g.161306859G= | CA1202689723 | MPZ | c.297C= (p.Ile99=) c.-292C= (n.-292C=) n.360C= c.41C= c.327C= (p.Ile109=) | |
1 | g.161306859G>T | CA1210187 | MPZ | c.297C>A (p.Ile99=) c.-292C>A (n.-292C>A) n.360C>A c.41C>A c.327C>A (p.Ile109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.161306860A= | CA1202689728 | MPZ | c.296T= (p.Ile99=) c.-293T= (n.-293T=) n.359T= c.40T= c.326T= (p.Ile109=) | |
1 | g.161306860A>C | CA343349578 | MPZ | c.296T>G (p.Ile99Ser) c.-293T>G (n.-293T>G) n.359T>G c.40T>G c.326T>G (p.Ile109Ser) | |
1 | g.161306860A>G | CA343349580 | MPZ | c.296T>C (p.Ile99Thr) c.-293T>C (n.-293T>C) n.359T>C c.40T>C c.326T>C (p.Ile109Thr) | ClinVar dbSNP gnomAD v4 |
1 | g.161306860A>T | CA343349583 | MPZ | c.296T>A (p.Ile99Asn) c.-293T>A (n.-293T>A) n.359T>A c.40T>A c.326T>A (p.Ile109Asn) | |
1 | g.161306861T>A | CA343349587 | MPZ | c.295A>T (p.Ile99Phe) c.-294A>T (n.-294A>T) n.358A>T c.39A>T c.325A>T (p.Ile109Phe) | |
1 | g.161306861T>C | CA343349596 | MPZ | c.295A>G (p.Ile99Val) c.-294A>G (n.-294A>G) n.358A>G c.39A>G c.325A>G (p.Ile109Val) | |
1 | g.161306861T>G | CA343349600 | MPZ | c.295A>C (p.Ile99Leu) c.-294A>C (n.-294A>C) n.358A>C c.39A>C c.325A>C (p.Ile109Leu) | ClinVar dbSNP |
1 | g.161306862G>A | CA421405255 | MPZ | c.294C>T (p.Arg98=) c.-295C>T (n.-295C>T) n.357C>T c.38C>T c.324C>T (p.Arg108=) | |
1 | g.161306862G>C | CA421405256 | MPZ | c.294C>G (p.Arg98=) c.-295C>G (n.-295C>G) n.357C>G c.38C>G c.324C>G (p.Arg108=) | |
1 | g.161306862G>T | CA421405257 | MPZ | c.294C>A (p.Arg98=) c.-295C>A (n.-295C>A) n.357C>A c.38C>A c.324C>A (p.Arg108=) | |
1 | g.161306862_161306866delinsGCGCT | CA1202689731 | MPZ | c.290_294delinsAGCGC (p.Glu97=) c.-299_-295delinsAGCGC (n.-299_-295delinsAGCGC) n.353_357delinsAGCGC c.34_38delinsAGCGC c.320_324delinsAGCGC (p.Glu107=) | |
1 | g.161306863C>A | CA343349605 | MPZ | c.293G>T (p.Arg98Leu) c.-296G>T (n.-296G>T) n.356G>T c.37G>T c.323G>T (p.Arg108Leu) | ClinVar dbSNP |
1 | g.161306863C= | CA1141581142 | MPZ | c.293G= (p.Arg98=) c.-296G= (n.-296G=) n.356G= c.37G= c.323G= (p.Arg108=) | |
1 | g.161306863C>G | CA257150 | MPZ | c.293G>C (p.Arg98Pro) c.-296G>C (n.-296G>C) n.356G>C c.37G>C c.323G>C (p.Arg108Pro) | ClinVar dbSNP |
1 | g.161306863C>T | CA257154 | MPZ | c.293G>A (p.Arg98His) c.-296G>A (n.-296G>A) n.356G>A c.37G>A c.323G>A (p.Arg108His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.161306864_161306867del | CA915943871 | MPZ | c.290_293del (p.Glu97AlafsTer5) c.-299_-296del (n.-299_-296del) n.353_356del c.34_37del c.320_323del (p.Glu107AlafsTer5) | ClinVar dbSNP |
1 | g.161306864G>A | CA257152 | MPZ | c.292C>T (p.Arg98Cys) c.-297C>T (n.-297C>T) n.355C>T c.36C>T c.322C>T (p.Arg108Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.161306864G>C | CA343349614 | MPZ | c.292C>G (p.Arg98Gly) c.-297C>G (n.-297C>G) n.355C>G c.36C>G c.322C>G (p.Arg108Gly) | |
1 | g.161306864G= | CA1141581144 | MPZ | c.292C= (p.Arg98=) c.-297C= (n.-297C=) n.355C= c.36C= c.322C= (p.Arg108=) | |
1 | g.161306864G>T | CA343349616 | MPZ | c.292C>A (p.Arg98Ser) c.-297C>A (n.-297C>A) n.355C>A c.36C>A c.322C>A (p.Arg108Ser) | ClinVar dbSNP gnomAD v4 |
1 | g.161306865C>A | CA343349621 | MPZ | c.291G>T (p.Glu97Asp) c.-298G>T (n.-298G>T) n.354G>T c.35G>T c.321G>T (p.Glu107Asp) | |
1 | g.161306865C>G | CA343349625 | MPZ | c.291G>C (p.Glu97Asp) c.-298G>C (n.-298G>C) n.354G>C c.35G>C c.321G>C (p.Glu107Asp) | |
1 | g.161306865C>T | CA421405261 | MPZ | c.291G>A (p.Glu97=) c.-298G>A (n.-298G>A) n.354G>A c.35G>A c.321G>A (p.Glu107=) |