| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161305808_161309983dup | CA10584071 | ClinVar | ||
| 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]) | ClinVar |
| 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) |