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