Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.161305808_161309983dup | CA10584071 | ClinVar | ||
1 | g.161306726_161306731del | CA2580061323 | MPZ | c.367+59_367+64del (n.367+59_367+64del) c.426_431del (p.Thr143_Leu144del) c.-163_-158del (n.-163_-158del) n.489_494del c.111+59_111+64del c.456_461del (p.Thr153_Leu154del) | ClinVar |
1 | g.161306730G>A | CA421405060 | MPZ | c.367+59C>T (n.367+59C>T) c.426C>T (p.Val142=) c.-163C>T (n.-163C>T) n.489C>T c.111+59C>T c.456C>T (p.Val152=) | |
1 | g.161306730G>C | CA421405061 | MPZ | c.367+59C>G (n.367+59C>G) c.426C>G (p.Val142=) c.-163C>G (n.-163C>G) n.489C>G c.111+59C>G c.456C>G (p.Val152=) | |
1 | g.161306730G>T | CA421405062 | MPZ | c.367+59C>A (n.367+59C>A) c.426C>A (p.Val142=) c.-163C>A (n.-163C>A) n.489C>A c.111+59C>A c.456C>A (p.Val152=) | gnomAD v4 |
1 | g.161306731A>C | CA343348379 | MPZ | c.367+58T>G (n.367+58T>G) c.425T>G (p.Val142Gly) c.-164T>G (n.-164T>G) n.488T>G c.111+58T>G c.455T>G (p.Val152Gly) | |
1 | g.161306731A>G | CA343348384 | MPZ | c.367+58T>C (n.367+58T>C) c.425T>C (p.Val142Ala) c.-164T>C (n.-164T>C) n.488T>C c.111+58T>C c.455T>C (p.Val152Ala) | |
1 | g.161306731A>T | CA343348409 | MPZ | c.367+58T>A (n.367+58T>A) c.425T>A (p.Val142Asp) c.-164T>A (n.-164T>A) n.488T>A c.111+58T>A c.455T>A (p.Val152Asp) | |
1 | g.161306732C>A | CA10577217 | MPZ | c.367+57G>T (n.367+57G>T) c.424G>T (p.Val142Phe) c.-165G>T (n.-165G>T) n.487G>T c.111+57G>T c.454G>T (p.Val152Phe) | ClinVar dbSNP |
1 | g.161306732C= | CA1202689193 | MPZ | c.367+57G= (n.367+57G=) c.424G= (p.Val142=) c.-165G= (n.-165G=) n.487G= c.111+57G= c.454G= (p.Val152=) | |
1 | g.161306732C>G | CA343348433 | MPZ | c.367+57G>C (n.367+57G>C) c.424G>C (p.Val142Leu) c.-165G>C (n.-165G>C) n.487G>C c.111+57G>C c.454G>C (p.Val152Leu) | |
1 | g.161306732C>T | CA343348440 | MPZ | c.367+57G>A (n.367+57G>A) c.424G>A (p.Val142Ile) c.-165G>A (n.-165G>A) n.487G>A c.111+57G>A c.454G>A (p.Val152Ile) | ClinVar |
1 | g.161306733del | CA2573130602 | MPZ | c.367+57del (n.367+57del) c.424del (p.Val142SerfsTer20) c.-165del (n.-165del) n.487del c.111+57del c.454del (p.Val152SerfsTer20) | ClinVar dbSNP |
1 | g.161306733C>A | CA343348454 | MPZ | c.367+56G>T (n.367+56G>T) c.423G>T (p.Gln141His) c.-166G>T (n.-166G>T) n.486G>T c.111+56G>T c.453G>T (p.Gln151His) | |
1 | g.161306733C>G | CA343348461 | MPZ | c.367+56G>C (n.367+56G>C) c.423G>C (p.Gln141His) c.-166G>C (n.-166G>C) n.486G>C c.111+56G>C c.453G>C (p.Gln151His) | |
1 | g.161306733C>T | CA421405063 | MPZ | c.367+56G>A (n.367+56G>A) c.423G>A (p.Gln141=) c.-166G>A (n.-166G>A) n.486G>A c.111+56G>A c.453G>A (p.Gln151=) | |
1 | g.161306734T>A | CA343348469 | MPZ | c.367+55A>T (n.367+55A>T) c.422A>T (p.Gln141Leu) c.-167A>T (n.-167A>T) n.485A>T c.111+55A>T c.452A>T (p.Gln151Leu) | |
1 | g.161306734T>C | CA343348475 | MPZ | c.367+55A>G (n.367+55A>G) c.422A>G (p.Gln141Arg) c.-167A>G (n.-167A>G) n.485A>G c.111+55A>G c.452A>G (p.Gln151Arg) | |
1 | g.161306734T>G | CA343348481 | MPZ | c.367+55A>C (n.367+55A>C) c.422A>C (p.Gln141Pro) c.-167A>C (n.-167A>C) n.485A>C c.111+55A>C c.452A>C (p.Gln151Pro) | gnomAD v4 |
1 | g.161306735G>A | CA343348492 | MPZ | c.367+54C>T (n.367+54C>T) c.421C>T (p.Gln141Ter) c.-168C>T (n.-168C>T) n.484C>T c.111+54C>T c.451C>T (p.Gln151Ter) | ClinVar dbSNP COSMIC COSMIC |
1 | g.161306735G>C | CA343348493 | MPZ | c.367+54C>G (n.367+54C>G) c.421C>G (p.Gln141Glu) c.-168C>G (n.-168C>G) n.484C>G c.111+54C>G c.451C>G (p.Gln151Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.161306735G= | CA1202689202 | MPZ | c.367+54C= (n.367+54C=) c.421C= (p.Gln141=) c.-168C= (n.-168C=) n.484C= c.111+54C= c.451C= (p.Gln151=) | |
1 | g.161306735G>T | CA343348494 | MPZ | c.367+54C>A (n.367+54C>A) c.421C>A (p.Gln141Lys) c.-168C>A (n.-168C>A) n.484C>A c.111+54C>A c.451C>A (p.Gln151Lys) | |
1 | g.161306736A>C | CA421405066 | MPZ | c.367+53T>G (n.367+53T>G) c.420T>G (p.Ser140=) c.-169T>G (n.-169T>G) n.483T>G c.111+53T>G c.450T>G (p.Ser150=) | gnomAD v4 |
1 | g.161306736A>G | CA421405067 | MPZ | c.367+53T>C (n.367+53T>C) c.420T>C (p.Ser140=) c.-169T>C (n.-169T>C) n.483T>C c.111+53T>C c.450T>C (p.Ser150=) | |
1 | g.161306736A>T | CA421405068 | MPZ | c.367+53T>A (n.367+53T>A) c.420T>A (p.Ser140=) c.-169T>A (n.-169T>A) n.483T>A c.111+53T>A c.450T>A (p.Ser150=) | |
1 | g.161306737G>A | CA343348497 | MPZ | c.367+52C>T (n.367+52C>T) c.419C>T (p.Ser140Phe) c.-170C>T (n.-170C>T) n.482C>T c.111+52C>T c.449C>T (p.Ser150Phe) | ClinVar dbSNP |
1 | g.161306737G>C | CA337957 | MPZ | c.367+52C>G (n.367+52C>G) c.419C>G (p.Ser140Cys) c.-170C>G (n.-170C>G) n.482C>G c.111+52C>G c.449C>G (p.Ser150Cys) | ClinVar dbSNP |
1 | g.161306737G= | CA1202689209 | MPZ | c.367+52C= (n.367+52C=) c.419C= (p.Ser140=) c.-170C= (n.-170C=) n.482C= c.111+52C= c.449C= (p.Ser150=) | |
1 | g.161306737G>T | CA343348508 | MPZ | c.367+52C>A (n.367+52C>A) c.419C>A (p.Ser140Tyr) c.-170C>A (n.-170C>A) n.482C>A c.111+52C>A c.449C>A (p.Ser150Tyr) | |
1 | g.161306738A= | CA1147645631 | MPZ | c.367+51T= (n.367+51T=) c.418T= (p.Ser140=) c.-171T= (n.-171T=) n.481T= c.111+51T= c.448T= (p.Ser150=) | |
1 | g.161306738A>C | CA31668641 | MPZ | c.367+51T>G (n.367+51T>G) c.418T>G (p.Ser140Ala) c.-171T>G (n.-171T>G) n.481T>G c.111+51T>G c.448T>G (p.Ser150Ala) | dbSNP |
1 | g.161306738A>G | CA343348520 | MPZ | c.367+51T>C (n.367+51T>C) c.418T>C (p.Ser140Pro) c.-171T>C (n.-171T>C) n.481T>C c.111+51T>C c.448T>C (p.Ser150Pro) | ClinVar |
1 | g.161306738A>T | CA1210178 | MPZ | c.367+51T>A (n.367+51T>A) c.418T>A (p.Ser140Thr) c.-171T>A (n.-171T>A) n.481T>A c.111+51T>A c.448T>A (p.Ser150Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.161306739G>A | CA421405069 | MPZ | c.367+50C>T (n.367+50C>T) c.417C>T (p.Thr139=) c.-172C>T (n.-172C>T) n.480C>T c.111+50C>T c.447C>T (p.Thr149=) | ClinVar dbSNP |
1 | g.161306739G>C | CA421405070 | MPZ | c.367+50C>G (n.367+50C>G) c.417C>G (p.Thr139=) c.-172C>G (n.-172C>G) n.480C>G c.111+50C>G c.447C>G (p.Thr149=) | dbSNP |
1 | g.161306739G= | CA1202689219 | MPZ | c.367+50C= (n.367+50C=) c.417C= (p.Thr139=) c.-172C= (n.-172C=) n.480C= c.111+50C= c.447C= (p.Thr149=) | |
1 | g.161306739G>T | CA421405071 | MPZ | c.367+50C>A (n.367+50C>A) c.417C>A (p.Thr139=) c.-172C>A (n.-172C>A) n.480C>A c.111+50C>A c.447C>A (p.Thr149=) | |
1 | g.161306739_161306741del | CA2739275378 | MPZ | c.367+48_367+50del (n.367+48_367+50del) c.415_417del (p.Thr139del) c.-174_-172del (n.-174_-172del) n.478_480del c.111+48_111+50del c.445_447del (p.Thr149del) | ClinVar |
1 | g.161306740G>A | CA343348529 | MPZ | c.367+49C>T (n.367+49C>T) c.416C>T (p.Thr139Ile) c.-173C>T (n.-173C>T) n.479C>T c.111+49C>T c.446C>T (p.Thr149Ile) | |
1 | g.161306740G>C | CA343348533 | MPZ | c.367+49C>G (n.367+49C>G) c.416C>G (p.Thr139Ser) c.-173C>G (n.-173C>G) n.479C>G c.111+49C>G c.446C>G (p.Thr149Ser) | |
1 | g.161306740G= | CA1202689223 | MPZ | c.367+49C= (n.367+49C=) c.416C= (p.Thr139=) c.-173C= (n.-173C=) n.479C= c.111+49C= c.446C= (p.Thr149=) | |
1 | g.161306740G>T | CA343348532 | MPZ | c.367+49C>A (n.367+49C>A) c.416C>A (p.Thr139Asn) c.-173C>A (n.-173C>A) n.479C>A c.111+49C>A c.446C>A (p.Thr149Asn) | ClinVar dbSNP |
1 | g.161306741T>A | CA343348534 | MPZ | c.367+48A>T (n.367+48A>T) c.415A>T (p.Thr139Ser) c.-174A>T (n.-174A>T) n.478A>T c.111+48A>T c.445A>T (p.Thr149Ser) | |
1 | g.161306741T>C | CA343348539 | MPZ | c.367+48A>G (n.367+48A>G) c.415A>G (p.Thr139Ala) c.-174A>G (n.-174A>G) n.478A>G c.111+48A>G c.445A>G (p.Thr149Ala) | |
1 | g.161306741T>G | CA343348536 | MPZ | c.367+48A>C (n.367+48A>C) c.415A>C (p.Thr139Pro) c.-174A>C (n.-174A>C) n.478A>C c.111+48A>C c.445A>C (p.Thr149Pro) | |
1 | g.161306742C>A | CA343348540 | MPZ | c.367+47G>T (n.367+47G>T) c.414G>T (p.Lys138Asn) c.-175G>T (n.-175G>T) n.477G>T c.111+47G>T c.444G>T (p.Lys148Asn) | |
1 | g.161306742C= | CA1202689231 | MPZ | c.367+47G= (n.367+47G=) c.414G= (p.Lys138=) c.-175G= (n.-175G=) n.477G= c.111+47G= c.444G= (p.Lys148=) | |
1 | g.161306742C>G | CA343348541 | MPZ | c.367+47G>C (n.367+47G>C) c.414G>C (p.Lys138Asn) c.-175G>C (n.-175G>C) n.477G>C c.111+47G>C c.444G>C (p.Lys148Asn) | ClinVar dbSNP |
1 | g.161306742C>T | CA421405074 | MPZ | c.367+47G>A (n.367+47G>A) c.414G>A (p.Lys138=) c.-175G>A (n.-175G>A) n.477G>A c.111+47G>A c.444G>A (p.Lys148=) | |
1 | g.161306743T>A | CA343348543 | MPZ | c.367+46A>T (n.367+46A>T) c.413A>T (p.Lys138Met) c.-176A>T (n.-176A>T) n.476A>T c.111+46A>T c.443A>T (p.Lys148Met) | |
1 | g.161306743T>C | CA343348553 | MPZ | c.367+46A>G (n.367+46A>G) c.413A>G (p.Lys138Arg) c.-176A>G (n.-176A>G) n.476A>G c.111+46A>G c.443A>G (p.Lys148Arg) | gnomAD v4 |
1 | g.161306743T>G | CA343348559 | MPZ | c.367+46A>C (n.367+46A>C) c.413A>C (p.Lys138Thr) c.-176A>C (n.-176A>C) n.476A>C c.111+46A>C c.443A>C (p.Lys148Thr) | ClinVar gnomAD v4 |
1 | g.161306744T>A | CA343348562 | MPZ | c.367+45A>T (n.367+45A>T) c.412A>T (p.Lys138Ter) c.-177A>T (n.-177A>T) n.475A>T c.111+45A>T c.442A>T (p.Lys148Ter) | |
1 | g.161306744T>C | CA343348563 | MPZ | c.367+45A>G (n.367+45A>G) c.412A>G (p.Lys138Glu) c.-177A>G (n.-177A>G) n.475A>G c.111+45A>G c.442A>G (p.Lys148Glu) | ClinVar dbSNP |
1 | g.161306744T>G | CA343348565 | MPZ | c.367+45A>C (n.367+45A>C) c.412A>C (p.Lys138Gln) c.-177A>C (n.-177A>C) n.475A>C c.111+45A>C c.442A>C (p.Lys148Gln) | ClinVar dbSNP |
1 | g.161306744T= | CA1202689238 | MPZ | c.367+45A= (n.367+45A=) c.412A= (p.Lys138=) c.-177A= (n.-177A=) n.475A= c.111+45A= c.442A= (p.Lys148=) | |
1 | g.161306745G>A | CA421405078 | MPZ | c.367+44C>T (n.367+44C>T) c.411C>T (p.Gly137=) c.-178C>T (n.-178C>T) n.474C>T c.111+44C>T c.441C>T (p.Gly147=) | ClinVar dbSNP |
1 | g.161306745G>C | CA421405079 | MPZ | c.367+44C>G (n.367+44C>G) c.411C>G (p.Gly137=) c.-178C>G (n.-178C>G) n.474C>G c.111+44C>G c.441C>G (p.Gly147=) | |
1 | g.161306745G= | CA1202689244 | MPZ | c.367+44C= (n.367+44C=) c.411C= (p.Gly137=) c.-178C= (n.-178C=) n.474C= c.111+44C= c.441C= (p.Gly147=) | |
1 | g.161306745G>T | CA421405080 | MPZ | c.367+44C>A (n.367+44C>A) c.411C>A (p.Gly137=) c.-178C>A (n.-178C>A) n.474C>A c.111+44C>A c.441C>A (p.Gly147=) | |
1 | g.161306746C>A | CA343348569 | MPZ | c.367+43G>T (n.367+43G>T) c.410G>T (p.Gly137Val) c.-179G>T (n.-179G>T) n.473G>T c.111+43G>T c.440G>T (p.Gly147Val) | ClinVar dbSNP |
1 | g.161306746C= | CA1202689255 | MPZ | c.367+43G= (n.367+43G=) c.410G= (p.Gly137=) c.-179G= (n.-179G=) n.473G= c.111+43G= c.440G= (p.Gly147=) | |
1 | g.161306746C>G | CA343348573 | MPZ | c.367+43G>C (n.367+43G>C) c.410G>C (p.Gly137Ala) c.-179G>C (n.-179G>C) n.473G>C c.111+43G>C c.440G>C (p.Gly147Ala) | ClinVar dbSNP gnomAD v4 |
1 | g.161306746C>T | CA279120 | MPZ | c.367+43G>A (n.367+43G>A) c.410G>A (p.Gly137Asp) c.-179G>A (n.-179G>A) n.473G>A c.111+43G>A c.440G>A (p.Gly147Asp) | ClinVar dbSNP |
1 | g.161306747C>A | CA343348593 | MPZ | c.367+42G>T (n.367+42G>T) c.409G>T (p.Gly137Cys) c.-180G>T (n.-180G>T) n.472G>T c.111+42G>T c.439G>T (p.Gly147Cys) | |
1 | g.161306747C= | CA1141581152 | MPZ | c.367+42G= (n.367+42G=) c.409G= (p.Gly137=) c.-180G= (n.-180G=) n.472G= c.111+42G= c.439G= (p.Gly147=) | |
1 | g.161306747C>G | CA343348585 | MPZ | c.367+42G>C (n.367+42G>C) c.409G>C (p.Gly137Arg) c.-180G>C (n.-180G>C) n.472G>C c.111+42G>C c.439G>C (p.Gly147Arg) | |
1 | g.161306747C>T | CA257148 | MPZ | c.367+42G>A (n.367+42G>A) c.409G>A (p.Gly137Ser) c.-180G>A (n.-180G>A) n.472G>A c.111+42G>A c.439G>A (p.Gly147Ser) | ClinVar dbSNP gnomAD v4 |
1 | g.161306748C>A | CA421405081 | MPZ | c.367+41G>T (n.367+41G>T) c.408G>T (p.Val136=) c.-181G>T (n.-181G>T) n.471G>T c.111+41G>T c.438G>T (p.Val146=) | |
1 | g.161306748C>G | CA421405083 | MPZ | c.367+41G>C (n.367+41G>C) c.408G>C (p.Val136=) c.-181G>C (n.-181G>C) n.471G>C c.111+41G>C c.438G>C (p.Val146=) | |
1 | g.161306748C>T | CA421405082 | MPZ | c.367+41G>A (n.367+41G>A) c.408G>A (p.Val136=) c.-181G>A (n.-181G>A) n.471G>A c.111+41G>A c.438G>A (p.Val146=) | |
1 | g.161306748_161306751delinsCACT | CA1202689267 | MPZ | c.367+38_367+41delinsAGTG (n.367+38_367+41delinsAGTG) c.405_408delinsAGTG (p.Ile135=) c.-184_-181delinsAGTG (n.-184_-181delinsAGTG) n.468_471delinsAGTG c.111+38_111+41delinsAGTG c.435_438delinsAGTG (p.Ile145=) | |
1 | g.161306749A= | CA1202689277 | MPZ | c.367+40T= (n.367+40T=) c.407T= (p.Val136=) c.-182T= (n.-182T=) n.470T= c.111+40T= c.437T= (p.Val146=) | |
1 | g.161306749A>C | CA343348596 | MPZ | c.367+40T>G (n.367+40T>G) c.407T>G (p.Val136Gly) c.-182T>G (n.-182T>G) n.470T>G c.111+40T>G c.437T>G (p.Val146Gly) | ClinVar dbSNP gnomAD v4 |
1 | g.161306749A>G | CA343348600 | MPZ | c.367+40T>C (n.367+40T>C) c.407T>C (p.Val136Ala) c.-182T>C (n.-182T>C) n.470T>C c.111+40T>C c.437T>C (p.Val146Ala) | |
1 | g.161306749A>T | CA343348605 | MPZ | c.367+40T>A (n.367+40T>A) c.407T>A (p.Val136Glu) c.-182T>A (n.-182T>A) n.470T>A c.111+40T>A c.437T>A (p.Val146Glu) | ClinVar dbSNP |
1 | g.161306750_161306752del | CA658795556 | MPZ | c.367+38_367+40del (n.367+38_367+40del) c.405_407del (p.Ile135_Val136delinsMet) c.-184_-182del (n.-184_-182del) n.468_470del c.111+38_111+40del c.435_437del (p.Ile145_Val146delinsMet) | ClinVar dbSNP |
1 | g.161306750C>A | CA343348610 | MPZ | c.367+39G>T (n.367+39G>T) c.406G>T (p.Val136Leu) c.-183G>T (n.-183G>T) n.469G>T c.111+39G>T c.436G>T (p.Val146Leu) | |
1 | g.161306750C>G | CA343348613 | MPZ | c.367+39G>C (n.367+39G>C) c.406G>C (p.Val136Leu) c.-183G>C (n.-183G>C) n.469G>C c.111+39G>C c.436G>C (p.Val146Leu) | |
1 | g.161306750C>T | CA343348616 | MPZ | c.367+39G>A (n.367+39G>A) c.406G>A (p.Val136Met) c.-183G>A (n.-183G>A) n.469G>A c.111+39G>A c.436G>A (p.Val146Met) | |
1 | g.161306751T>A | CA421405084 | MPZ | c.367+38A>T (n.367+38A>T) c.405A>T (p.Ile135=) c.-184A>T (n.-184A>T) n.468A>T c.111+38A>T c.435A>T (p.Ile145=) | |
1 | g.161306751T>C | CA343348620 | MPZ | c.367+38A>G (n.367+38A>G) c.405A>G (p.Ile135Met) c.-184A>G (n.-184A>G) n.468A>G c.111+38A>G c.435A>G (p.Ile145Met) | ClinVar dbSNP |
1 | g.161306751T>G | CA421405086 | MPZ | c.367+38A>C (n.367+38A>C) c.405A>C (p.Ile135=) c.-184A>C (n.-184A>C) n.468A>C c.111+38A>C c.435A>C (p.Ile145=) | |
1 | g.161306751T= | CA1202689286 | MPZ | c.367+38A= (n.367+38A=) c.405A= (p.Ile135=) c.-184A= (n.-184A=) n.468A= c.111+38A= c.435A= (p.Ile145=) | |
1 | g.161306752A= | CA1141581154 | MPZ | c.367+37T= (n.367+37T=) c.404T= (p.Ile135=) c.-185T= (n.-185T=) n.467T= c.111+37T= c.434T= (p.Ile145=) | |
1 | g.161306752A>C | CA343348622 | MPZ | c.367+37T>G (n.367+37T>G) c.404T>G (p.Ile135Arg) c.-185T>G (n.-185T>G) n.467T>G c.111+37T>G c.434T>G (p.Ile145Arg) | |
1 | g.161306752A>G | CA257146 | MPZ | c.367+37T>C (n.367+37T>C) c.404T>C (p.Ile135Thr) c.-185T>C (n.-185T>C) n.467T>C c.111+37T>C c.434T>C (p.Ile145Thr) | ClinVar dbSNP |
1 | g.161306752A>T | CA343348627 | MPZ | c.367+37T>A (n.367+37T>A) c.404T>A (p.Ile135Lys) c.-185T>A (n.-185T>A) n.467T>A c.111+37T>A c.434T>A (p.Ile145Lys) | |
1 | g.161306753T>A | CA343348638 | MPZ | c.367+36A>T (n.367+36A>T) c.403A>T (p.Ile135Leu) c.-186A>T (n.-186A>T) n.466A>T c.111+36A>T c.433A>T (p.Ile145Leu) | ClinVar dbSNP |
1 | g.161306753T>C | CA343348643 | MPZ | c.367+36A>G (n.367+36A>G) c.403A>G (p.Ile135Val) c.-186A>G (n.-186A>G) n.466A>G c.111+36A>G c.433A>G (p.Ile145Val) | gnomAD v4 |
1 | g.161306753T>G | CA10584090 | MPZ | c.367+36A>C (n.367+36A>C) c.403A>C (p.Ile135Leu) c.-186A>C (n.-186A>C) n.466A>C c.111+36A>C c.433A>C (p.Ile145Leu) | ClinVar dbSNP |
1 | g.161306753T= | CA1202689300 | MPZ | c.367+36A= (n.367+36A=) c.403A= (p.Ile135=) c.-186A= (n.-186A=) n.466A= c.111+36A= c.433A= (p.Ile145=) | |
1 | g.161306754G>A | CA421405088 | MPZ | c.367+35C>T (n.367+35C>T) c.402C>T (p.Asp134=) c.-187C>T (n.-187C>T) n.465C>T c.111+35C>T c.432C>T (p.Asp144=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.161306754G>C | CA343348652 | MPZ | c.367+35C>G (n.367+35C>G) c.402C>G (p.Asp134Glu) c.-187C>G (n.-187C>G) n.465C>G c.111+35C>G c.432C>G (p.Asp144Glu) | |
1 | g.161306754G= | CA1202689307 | MPZ | c.367+35C= (n.367+35C=) c.402C= (p.Asp134=) c.-187C= (n.-187C=) n.465C= c.111+35C= c.432C= (p.Asp144=) | |
1 | g.161306754G>T | CA343348653 | MPZ | c.367+35C>A (n.367+35C>A) c.402C>A (p.Asp134Glu) c.-187C>A (n.-187C>A) n.465C>A c.111+35C>A c.432C>A (p.Asp144Glu) | ClinVar dbSNP |
1 | g.161306755T>A | CA343348654 | MPZ | c.367+34A>T (n.367+34A>T) c.401A>T (p.Asp134Val) c.-188A>T (n.-188A>T) n.464A>T c.111+34A>T c.431A>T (p.Asp144Val) | ClinVar dbSNP |
1 | g.161306755T>C | CA343348658 | MPZ | c.367+34A>G (n.367+34A>G) c.401A>G (p.Asp134Gly) c.-188A>G (n.-188A>G) n.464A>G c.111+34A>G c.431A>G (p.Asp144Gly) | ClinVar dbSNP |
1 | g.161306755T>G | CA343348665 | MPZ | c.367+34A>C (n.367+34A>C) c.401A>C (p.Asp134Ala) c.-188A>C (n.-188A>C) n.464A>C c.111+34A>C c.431A>C (p.Asp144Ala) | ClinVar dbSNP |
1 | g.161306755T= | CA1202689318 | MPZ | c.367+34A= (n.367+34A=) c.401A= (p.Asp134=) c.-188A= (n.-188A=) n.464A= c.111+34A= c.431A= (p.Asp144=) | |
1 | g.161306756C>A | CA343348674 | MPZ | c.367+33G>T (n.367+33G>T) c.400G>T (p.Asp134Tyr) c.-189G>T (n.-189G>T) n.463G>T c.111+33G>T c.430G>T (p.Asp144Tyr) | |
1 | g.161306756C= | CA1202689321 | MPZ | c.367+33G= (n.367+33G=) c.400G= (p.Asp134=) c.-189G= (n.-189G=) n.463G= c.111+33G= c.430G= (p.Asp144=) | |
1 | g.161306756C>G | CA343348676 | MPZ | c.367+33G>C (n.367+33G>C) c.400G>C (p.Asp134His) c.-189G>C (n.-189G>C) n.463G>C c.111+33G>C c.430G>C (p.Asp144His) | |
1 | g.161306756C>T | CA343348678 | MPZ | c.367+33G>A (n.367+33G>A) c.400G>A (p.Asp134Asn) c.-189G>A (n.-189G>A) n.463G>A c.111+33G>A c.430G>A (p.Asp144Asn) | ClinVar dbSNP |
1 | g.161306757T>A | CA421405090 | MPZ | c.367+32A>T (n.367+32A>T) c.399A>T (p.Pro133=) c.-190A>T (n.-190A>T) n.462A>T c.111+32A>T c.429A>T (p.Pro143=) | |
1 | g.161306757T>C | CA421405091 | MPZ | c.367+32A>G (n.367+32A>G) c.399A>G (p.Pro133=) c.-190A>G (n.-190A>G) n.462A>G c.111+32A>G c.429A>G (p.Pro143=) | dbSNP |
1 | g.161306757T>G | CA421405092 | MPZ | c.367+32A>C (n.367+32A>C) c.399A>C (p.Pro133=) c.-190A>C (n.-190A>C) n.462A>C c.111+32A>C c.429A>C (p.Pro143=) | |
1 | g.161306758G>A | CA343348684 | MPZ | c.367+31C>T (n.367+31C>T) c.398C>T (p.Pro133Leu) c.-191C>T (n.-191C>T) n.461C>T c.111+31C>T c.428C>T (p.Pro143Leu) | ClinVar dbSNP gnomAD v4 |
1 | g.161306758G>C | CA343348688 | MPZ | c.367+31C>G (n.367+31C>G) c.398C>G (p.Pro133Arg) c.-191C>G (n.-191C>G) n.461C>G c.111+31C>G c.428C>G (p.Pro143Arg) | ClinVar dbSNP |
1 | g.161306758G= | CA1202689327 | MPZ | c.367+31C= (n.367+31C=) c.398C= (p.Pro133=) c.-191C= (n.-191C=) n.461C= c.111+31C= c.428C= (p.Pro143=) | |
1 | g.161306758G>T | CA343348691 | MPZ | c.367+31C>A (n.367+31C>A) c.398C>A (p.Pro133Gln) c.-191C>A (n.-191C>A) n.461C>A c.111+31C>A c.428C>A (p.Pro143Gln) | |
1 | g.161306758_161306760delinsGGA | CA1202689331 | MPZ | c.367+29_367+31delinsTCC (n.367+29_367+31delinsTCC) c.396_398delinsTCC (p.Pro132=) c.-193_-191delinsTCC (n.-193_-191delinsTCC) n.459_461delinsTCC c.111+29_111+31delinsTCC c.426_428delinsTCC (p.Pro142=) | |
1 | g.161306759G>A | CA343348705 | MPZ | c.367+30C>T (n.367+30C>T) c.397C>T (p.Pro133Ser) c.-192C>T (n.-192C>T) n.460C>T c.111+30C>T c.427C>T (p.Pro143Ser) | ClinVar dbSNP |
1 | g.161306759G>C | CA343348711 | MPZ | c.367+30C>G (n.367+30C>G) c.397C>G (p.Pro133Ala) c.-192C>G (n.-192C>G) n.460C>G c.111+30C>G c.427C>G (p.Pro143Ala) | ClinVar dbSNP |
1 | g.161306759G= | CA1202689343 | MPZ | c.367+30C= (n.367+30C=) c.397C= (p.Pro133=) c.-192C= (n.-192C=) n.460C= c.111+30C= c.427C= (p.Pro143=) | |
1 | g.161306759G>T | CA343348701 | MPZ | c.367+30C>A (n.367+30C>A) c.397C>A (p.Pro133Thr) c.-192C>A (n.-192C>A) n.460C>A c.111+30C>A c.427C>A (p.Pro143Thr) | ClinVar dbSNP |
1 | g.161306760_161306761del | CA915943868 | MPZ | c.367+29_367+30del (n.367+29_367+30del) c.396_397del (p.Pro133ArgfsTer15) c.-193_-192del (n.-193_-192del) n.459_460del c.111+29_111+30del c.426_427del (p.Pro143ArgfsTer15) | ClinVar dbSNP |
1 | g.161306760A>C | CA421405093 | MPZ | c.367+29T>G (n.367+29T>G) c.396T>G (p.Pro132=) c.-193T>G (n.-193T>G) n.459T>G c.111+29T>G c.426T>G (p.Pro142=) | |
1 | g.161306760A>G | CA421405094 | MPZ | c.367+29T>C (n.367+29T>C) c.396T>C (p.Pro132=) c.-193T>C (n.-193T>C) n.459T>C c.111+29T>C c.426T>C (p.Pro142=) | |
1 | g.161306760A>T | CA421405095 | MPZ | c.367+29T>A (n.367+29T>A) c.396T>A (p.Pro132=) c.-193T>A (n.-193T>A) n.459T>A c.111+29T>A c.426T>A (p.Pro142=) | dbSNP |
1 | g.161306761G>A | CA343348718 | MPZ | c.367+28C>T (n.367+28C>T) c.395C>T (p.Pro132Leu) c.-194C>T (n.-194C>T) n.458C>T c.111+28C>T c.425C>T (p.Pro142Leu) | ClinVar dbSNP |
1 | g.161306761G>C | CA343348724 | MPZ | c.367+28C>G (n.367+28C>G) c.395C>G (p.Pro132Arg) c.-194C>G (n.-194C>G) n.458C>G c.111+28C>G c.425C>G (p.Pro142Arg) | |
1 | g.161306761G= | CA1202689348 | MPZ | c.367+28C= (n.367+28C=) c.395C= (p.Pro132=) c.-194C= (n.-194C=) n.458C= c.111+28C= c.425C= (p.Pro142=) | |
1 | g.161306761G>T | CA343348726 | MPZ | c.367+28C>A (n.367+28C>A) c.395C>A (p.Pro132His) c.-194C>A (n.-194C>A) n.458C>A c.111+28C>A c.425C>A (p.Pro142His) | |
1 | g.161306762G>A | CA343348729 | MPZ | c.367+27C>T (n.367+27C>T) c.394C>T (p.Pro132Ser) c.-195C>T (n.-195C>T) n.457C>T c.111+27C>T c.424C>T (p.Pro142Ser) | ClinVar dbSNP |
1 | g.161306762G>C | CA343348732 | MPZ | c.367+27C>G (n.367+27C>G) c.394C>G (p.Pro132Ala) c.-195C>G (n.-195C>G) n.457C>G c.111+27C>G c.424C>G (p.Pro142Ala) | ClinVar dbSNP |
1 | g.161306762G= | CA1202689354 | MPZ | c.367+27C= (n.367+27C=) c.394C= (p.Pro132=) c.-195C= (n.-195C=) n.457C= c.111+27C= c.424C= (p.Pro142=) | |
1 | g.161306762G>T | CA343348738 | MPZ | c.367+27C>A (n.367+27C>A) c.394C>A (p.Pro132Thr) c.-195C>A (n.-195C>A) n.457C>A c.111+27C>A c.424C>A (p.Pro142Thr) | ClinVar dbSNP |
1 | g.161306763G>A | CA421405098 | MPZ | c.367+26C>T (n.367+26C>T) c.393C>T (p.Asn131=) c.-196C>T (n.-196C>T) n.456C>T c.111+26C>T c.423C>T (p.Asn141=) | |
1 | g.161306763G>C | CA343348744 | MPZ | c.367+26C>G (n.367+26C>G) c.393C>G (p.Asn131Lys) c.-196C>G (n.-196C>G) n.456C>G c.111+26C>G c.423C>G (p.Asn141Lys) | |
1 | g.161306763G= | CA1141581155 | MPZ | c.367+26C= (n.367+26C=) c.393C= (p.Asn131=) c.-196C= (n.-196C=) n.456C= c.111+26C= c.423C= (p.Asn141=) | |
1 | g.161306763G>T | CA123803 | MPZ | c.367+26C>A (n.367+26C>A) c.393C>A (p.Asn131Lys) c.-196C>A (n.-196C>A) n.456C>A c.111+26C>A c.423C>A (p.Asn141Lys) | ClinVar dbSNP |
1 | g.161306764T>A | CA343348745 | MPZ | c.367+25A>T (n.367+25A>T) c.392A>T (p.Asn131Ile) c.-197A>T (n.-197A>T) n.455A>T c.111+25A>T c.422A>T (p.Asn141Ile) | |
1 | g.161306764T>C | CA343348748 | MPZ | c.367+25A>G (n.367+25A>G) c.392A>G (p.Asn131Ser) c.-197A>G (n.-197A>G) n.455A>G c.111+25A>G c.422A>G (p.Asn141Ser) | ClinVar dbSNP |
1 | g.161306764T>G | CA343348752 | MPZ | c.367+25A>C (n.367+25A>C) c.392A>C (p.Asn131Thr) c.-197A>C (n.-197A>C) n.455A>C c.111+25A>C c.422A>C (p.Asn141Thr) | dbSNP |
1 | g.161306764T= | CA1202689365 | MPZ | c.367+25A= (n.367+25A=) c.392A= (p.Asn131=) c.-197A= (n.-197A=) n.455A= c.111+25A= c.422A= (p.Asn141=) | |
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=) |