Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.185519196T>ACA355688111LIPHc.832A>T (p.Asn278Tyr)
c.730A>T (p.Asn244Tyr)
c.204A>T
c.742A>T (p.Asn248Tyr)
c.703A>T (p.Asn235Tyr)
3g.185519196T>CCA355688113LIPHc.832A>G (p.Asn278Asp)
c.730A>G (p.Asn244Asp)
c.204A>G
c.742A>G (p.Asn248Asp)
c.703A>G (p.Asn235Asp)
3g.185519196T>GCA355688112LIPHc.832A>C (p.Asn278His)
c.730A>C (p.Asn244His)
c.204A>C
c.742A>C (p.Asn248His)
c.703A>C (p.Asn235His)
3g.185519197C>ACA355688114LIPHc.831G>T (p.Arg277Ser)
c.729G>T (p.Arg243Ser)
c.203G>T
c.741G>T (p.Arg247Ser)
c.702G>T (p.Arg234Ser)
3g.185519197C=CA1426522488LIPHc.831G= (p.Arg277=)
c.729G= (p.Arg243=)
c.203G=
c.741G= (p.Arg247=)
c.702G= (p.Arg234=)
3g.185519197C>GCA355688115LIPHc.831G>C (p.Arg277Ser)
c.729G>C (p.Arg243Ser)
c.203G>C
c.741G>C (p.Arg247Ser)
c.702G>C (p.Arg234Ser)
 dbSNP
3g.185519197C>TCA2740488LIPHc.831G>A (p.Arg277=)
c.729G>A (p.Arg243=)
c.203G>A
c.741G>A (p.Arg247=)
c.702G>A (p.Arg234=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.185519198C>ACA355688116LIPHc.830G>T (p.Arg277Met)
c.728G>T (p.Arg243Met)
c.202G>T
c.740G>T (p.Arg247Met)
c.701G>T (p.Arg234Met)
3g.185519198C>GCA355688117LIPHc.830G>C (p.Arg277Thr)
c.728G>C (p.Arg243Thr)
c.202G>C
c.740G>C (p.Arg247Thr)
c.701G>C (p.Arg234Thr)
3g.185519198C>TCA355688118LIPHc.830G>A (p.Arg277Lys)
c.728G>A (p.Arg243Lys)
c.202G>A
c.740G>A (p.Arg247Lys)
c.701G>A (p.Arg234Lys)
3g.185519199T>ACA355688119LIPHc.829A>T (p.Arg277Trp)
c.727A>T (p.Arg243Trp)
c.201A>T
c.739A>T (p.Arg247Trp)
c.700A>T (p.Arg234Trp)
3g.185519199T>CCA355688120LIPHc.829A>G (p.Arg277Gly)
c.727A>G (p.Arg243Gly)
c.201A>G
c.739A>G (p.Arg247Gly)
c.700A>G (p.Arg234Gly)
3g.185519199T>GCA437347258LIPHc.829A>C (p.Arg277=)
c.727A>C (p.Arg243=)
c.201A>C
c.739A>C (p.Arg247=)
c.700A>C (p.Arg234=)
3g.185519200A>CCA355688121LIPHc.828T>G (p.Tyr276Ter)
c.726T>G (p.Tyr242Ter)
c.200T>G
c.738T>G (p.Tyr246Ter)
c.699T>G (p.Tyr233Ter)
3g.185519200A>GCA437347260LIPHc.828T>C (p.Tyr276=)
c.726T>C (p.Tyr242=)
c.200T>C
c.738T>C (p.Tyr246=)
c.699T>C (p.Tyr233=)
 gnomAD v4
3g.185519200A>TCA355688122LIPHc.828T>A (p.Tyr276Ter)
c.726T>A (p.Tyr242Ter)
c.200T>A
c.738T>A (p.Tyr246Ter)
c.699T>A (p.Tyr233Ter)
3g.185519201T>ACA355688123LIPHc.827A>T (p.Tyr276Phe)
c.725A>T (p.Tyr242Phe)
c.199A>T
c.737A>T (p.Tyr246Phe)
c.698A>T (p.Tyr233Phe)
3g.185519201T>CCA2740489LIPHc.827A>G (p.Tyr276Cys)
c.725A>G (p.Tyr242Cys)
c.199A>G
c.737A>G (p.Tyr246Cys)
c.698A>G (p.Tyr233Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.185519201T>GCA355688124LIPHc.827A>C (p.Tyr276Ser)
c.725A>C (p.Tyr242Ser)
c.199A>C
c.737A>C (p.Tyr246Ser)
c.698A>C (p.Tyr233Ser)
 dbSNP
3g.185519201T=CA1426522489LIPHc.827A= (p.Tyr276=)
c.725A= (p.Tyr242=)
c.199A=
c.737A= (p.Tyr246=)
c.698A= (p.Tyr233=)
3g.185519202A=CA1426522490LIPHc.826T= (p.Tyr276=)
c.724T= (p.Tyr242=)
c.198T=
c.736T= (p.Tyr246=)
c.697T= (p.Tyr233=)
3g.185519202A>CCA355688125LIPHc.826T>G (p.Tyr276Asp)
c.724T>G (p.Tyr242Asp)
c.198T>G
c.736T>G (p.Tyr246Asp)
c.697T>G (p.Tyr233Asp)
3g.185519202A>GCA355688127LIPHc.826T>C (p.Tyr276His)
c.724T>C (p.Tyr242His)
c.198T>C
c.736T>C (p.Tyr246His)
c.697T>C (p.Tyr233His)
 dbSNP
3g.185519202A>TCA355688126LIPHc.826T>A (p.Tyr276Asn)
c.724T>A (p.Tyr242Asn)
c.198T>A
c.736T>A (p.Tyr246Asn)
c.697T>A (p.Tyr233Asn)
3g.185519203dupCA2668901442LIPHc.826dup (p.Tyr276LeufsTer2)
c.724dup (p.Tyr242LeufsTer2)
c.198dup
c.736dup (p.Tyr246LeufsTer2)
c.697dup (p.Tyr233LeufsTer2)
 gnomAD v4
3g.185519203A=CA1426522491LIPHc.825T= (p.Asp275=)
c.723T= (p.Asp241=)
c.197T=
c.735T= (p.Asp245=)
c.696T= (p.Asp232=)
3g.185519203A>CCA89578959LIPHc.825T>G (p.Asp275Glu)
c.723T>G (p.Asp241Glu)
c.197T>G
c.735T>G (p.Asp245Glu)
c.696T>G (p.Asp232Glu)
 dbSNP gnomAD v3 gnomAD v4
3g.185519203A>GCA437347268LIPHc.825T>C (p.Asp275=)
c.723T>C (p.Asp241=)
c.197T>C
c.735T>C (p.Asp245=)
c.696T>C (p.Asp232=)
 gnomAD v4
3g.185519203A>TCA355688128LIPHc.825T>A (p.Asp275Glu)
c.723T>A (p.Asp241Glu)
c.197T>A
c.735T>A (p.Asp245Glu)
c.696T>A (p.Asp232Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.185519204T>ACA355688129LIPHc.824A>T (p.Asp275Val)
c.722A>T (p.Asp241Val)
c.196A>T
c.734A>T (p.Asp245Val)
c.695A>T (p.Asp232Val)
3g.185519204T>CCA355688130LIPHc.824A>G (p.Asp275Gly)
c.722A>G (p.Asp241Gly)
c.196A>G
c.734A>G (p.Asp245Gly)
c.695A>G (p.Asp232Gly)
3g.185519204T>GCA355688131LIPHc.824A>C (p.Asp275Ala)
c.722A>C (p.Asp241Ala)
c.196A>C
c.734A>C (p.Asp245Ala)
c.695A>C (p.Asp232Ala)
3g.185519205C>ACA355688132LIPHc.823G>T (p.Asp275Tyr)
c.721G>T (p.Asp241Tyr)
c.195G>T
c.733G>T (p.Asp245Tyr)
c.694G>T (p.Asp232Tyr)
3g.185519205C>GCA355688133LIPHc.823G>C (p.Asp275His)
c.721G>C (p.Asp241His)
c.195G>C
c.733G>C (p.Asp245His)
c.694G>C (p.Asp232His)
3g.185519205C>TCA355688134LIPHc.823G>A (p.Asp275Asn)
c.721G>A (p.Asp241Asn)
c.195G>A
c.733G>A (p.Asp245Asn)
c.694G>A (p.Asp232Asn)
3g.185519206C>ACA355688135LIPHc.822G>T (p.Gln274His)
c.720G>T (p.Gln240His)
c.194G>T
c.732G>T (p.Gln244His)
c.693G>T (p.Gln231His)
3g.185519206C>GCA355688136LIPHc.822G>C (p.Gln274His)
c.720G>C (p.Gln240His)
c.194G>C
c.732G>C (p.Gln244His)
c.693G>C (p.Gln231His)
3g.185519206C>TCA437347274LIPHc.822G>A (p.Gln274=)
c.720G>A (p.Gln240=)
c.194G>A
c.732G>A (p.Gln244=)
c.693G>A (p.Gln231=)
3g.185519207T>ACA355688139LIPHc.821A>T (p.Gln274Leu)
c.719A>T (p.Gln240Leu)
c.193A>T
c.731A>T (p.Gln244Leu)
c.692A>T (p.Gln231Leu)
3g.185519207T>CCA355688138LIPHc.821A>G (p.Gln274Arg)
c.719A>G (p.Gln240Arg)
c.193A>G
c.731A>G (p.Gln244Arg)
c.692A>G (p.Gln231Arg)
3g.185519207T>GCA355688137LIPHc.821A>C (p.Gln274Pro)
c.719A>C (p.Gln240Pro)
c.193A>C
c.731A>C (p.Gln244Pro)
c.692A>C (p.Gln231Pro)
 gnomAD v4
3g.185519208G>ACA355688140LIPHc.820C>T (p.Gln274Ter)
c.718C>T (p.Gln240Ter)
c.192C>T
c.730C>T (p.Gln244Ter)
c.691C>T (p.Gln231Ter)
3g.185519208G>CCA355688141LIPHc.820C>G (p.Gln274Glu)
c.718C>G (p.Gln240Glu)
c.192C>G
c.730C>G (p.Gln244Glu)
c.691C>G (p.Gln231Glu)
3g.185519208G>TCA355688142LIPHc.820C>A (p.Gln274Lys)
c.718C>A (p.Gln240Lys)
c.192C>A
c.730C>A (p.Gln244Lys)
c.691C>A (p.Gln231Lys)
3g.185519209G>ACA437347277LIPHc.819C>T (p.Tyr273=)
c.717C>T (p.Tyr239=)
c.191C>T
c.729C>T (p.Tyr243=)
c.690C>T (p.Tyr230=)
 gnomAD v4
3g.185519209G>CCA355688143LIPHc.819C>G (p.Tyr273Ter)
c.717C>G (p.Tyr239Ter)
c.191C>G
c.729C>G (p.Tyr243Ter)
c.690C>G (p.Tyr230Ter)
3g.185519209G>TCA355688144LIPHc.819C>A (p.Tyr273Ter)
c.717C>A (p.Tyr239Ter)
c.191C>A
c.729C>A (p.Tyr243Ter)
c.690C>A (p.Tyr230Ter)
 gnomAD v4
3g.185519210T>ACA355688147LIPHc.818A>T (p.Tyr273Phe)
c.716A>T (p.Tyr239Phe)
c.190A>T
c.728A>T (p.Tyr243Phe)
c.689A>T (p.Tyr230Phe)
 gnomAD v4
3g.185519210T>CCA355688146LIPHc.818A>G (p.Tyr273Cys)
c.716A>G (p.Tyr239Cys)
c.190A>G
c.728A>G (p.Tyr243Cys)
c.689A>G (p.Tyr230Cys)
3g.185519210T>GCA355688145LIPHc.818A>C (p.Tyr273Ser)
c.716A>C (p.Tyr239Ser)
c.190A>C
c.728A>C (p.Tyr243Ser)
c.689A>C (p.Tyr230Ser)
3g.185519211A>CCA355688148LIPHc.817T>G (p.Tyr273Asp)
c.715T>G (p.Tyr239Asp)
c.189T>G
c.727T>G (p.Tyr243Asp)
c.688T>G (p.Tyr230Asp)
3g.185519211A>GCA355688149LIPHc.817T>C (p.Tyr273His)
c.715T>C (p.Tyr239His)
c.189T>C
c.727T>C (p.Tyr243His)
c.688T>C (p.Tyr230His)
3g.185519211A>TCA355688150LIPHc.817T>A (p.Tyr273Asn)
c.715T>A (p.Tyr239Asn)
c.189T>A
c.727T>A (p.Tyr243Asn)
c.688T>A (p.Tyr230Asn)
3g.185519212G>ACA437347280LIPHc.816C>T (p.Ser272=)
c.714C>T (p.Ser238=)
c.188C>T
c.726C>T (p.Ser242=)
c.687C>T (p.Ser229=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.185519212G>CCA437347281LIPHc.816C>G (p.Ser272=)
c.714C>G (p.Ser238=)
c.188C>G
c.726C>G (p.Ser242=)
c.687C>G (p.Ser229=)
 dbSNP
3g.185519212G=CA1426522492LIPHc.816C= (p.Ser272=)
c.714C= (p.Ser238=)
c.188C=
c.726C= (p.Ser242=)
c.687C= (p.Ser229=)
3g.185519212G>TCA437347282LIPHc.816C>A (p.Ser272=)
c.714C>A (p.Ser238=)
c.188C>A
c.726C>A (p.Ser242=)
c.687C>A (p.Ser229=)
3g.185519213G>ACA355688151LIPHc.815C>T (p.Ser272Phe)
c.713C>T (p.Ser238Phe)
c.187C>T
c.725C>T (p.Ser242Phe)
c.686C>T (p.Ser229Phe)
 dbSNP gnomAD v2 gnomAD v4
3g.185519213G>CCA355688152LIPHc.815C>G (p.Ser272Cys)
c.713C>G (p.Ser238Cys)
c.187C>G
c.725C>G (p.Ser242Cys)
c.686C>G (p.Ser229Cys)
3g.185519213G=CA1426522493LIPHc.815C= (p.Ser272=)
c.713C= (p.Ser238=)
c.187C=
c.725C= (p.Ser242=)
c.686C= (p.Ser229=)
3g.185519213G>TCA355688153LIPHc.815C>A (p.Ser272Tyr)
c.713C>A (p.Ser238Tyr)
c.187C>A
c.725C>A (p.Ser242Tyr)
c.686C>A (p.Ser229Tyr)
3g.185519214A>CCA355688154LIPHc.814T>G (p.Ser272Ala)
c.712T>G (p.Ser238Ala)
c.186T>G
c.724T>G (p.Ser242Ala)
c.685T>G (p.Ser229Ala)
3g.185519214A>GCA355688156LIPHc.814T>C (p.Ser272Pro)
c.712T>C (p.Ser238Pro)
c.186T>C
c.724T>C (p.Ser242Pro)
c.685T>C (p.Ser229Pro)
3g.185519214A>TCA355688155LIPHc.814T>A (p.Ser272Thr)
c.712T>A (p.Ser238Thr)
c.186T>A
c.724T>A (p.Ser242Thr)
c.685T>A (p.Ser229Thr)
3g.185519215G>ACA437347284LIPHc.813C>T (p.Asp271=)
c.711C>T (p.Asp237=)
c.185C>T
c.723C>T (p.Asp241=)
c.684C>T (p.Asp228=)
3g.185519215G>CCA355688158LIPHc.813C>G (p.Asp271Glu)
c.711C>G (p.Asp237Glu)
c.185C>G
c.723C>G (p.Asp241Glu)
c.684C>G (p.Asp228Glu)
3g.185519215G>TCA355688160LIPHc.813C>A (p.Asp271Glu)
c.711C>A (p.Asp237Glu)
c.185C>A
c.723C>A (p.Asp241Glu)
c.684C>A (p.Asp228Glu)
3g.185519216T>ACA355688163LIPHc.812A>T (p.Asp271Val)
c.710A>T (p.Asp237Val)
c.184A>T
c.722A>T (p.Asp241Val)
c.683A>T (p.Asp228Val)
3g.185519216T>CCA355688165LIPHc.812A>G (p.Asp271Gly)
c.710A>G (p.Asp237Gly)
c.184A>G
c.722A>G (p.Asp241Gly)
c.683A>G (p.Asp228Gly)
3g.185519216T>GCA355688167LIPHc.812A>C (p.Asp271Ala)
c.710A>C (p.Asp237Ala)
c.184A>C
c.722A>C (p.Asp241Ala)
c.683A>C (p.Asp228Ala)
3g.185519217C>ACA355688171LIPHc.811G>T (p.Asp271Tyr)
c.709G>T (p.Asp237Tyr)
c.183G>T
c.721G>T (p.Asp241Tyr)
c.682G>T (p.Asp228Tyr)
3g.185519217C=CA1426522494LIPHc.811G= (p.Asp271=)
c.709G= (p.Asp237=)
c.183G=
c.721G= (p.Asp241=)
c.682G= (p.Asp228=)
3g.185519217C>GCA355688173LIPHc.811G>C (p.Asp271His)
c.709G>C (p.Asp237His)
c.183G>C
c.721G>C (p.Asp241His)
c.682G>C (p.Asp228His)
3g.185519217C>TCA89578961LIPHc.811G>A (p.Asp271Asn)
c.709G>A (p.Asp237Asn)
c.183G>A
c.721G>A (p.Asp241Asn)
c.682G>A (p.Asp228Asn)
 dbSNP gnomAD v4
3g.185519218A=CA1426522495LIPHc.810T= (p.Cys270=)
c.708T= (p.Cys236=)
c.182T=
c.720T= (p.Cys240=)
c.681T= (p.Cys227=)
3g.185519218A>CCA355688177LIPHc.810T>G (p.Cys270Trp)
c.708T>G (p.Cys236Trp)
c.182T>G
c.720T>G (p.Cys240Trp)
c.681T>G (p.Cys227Trp)
3g.185519218A>GCA437347285LIPHc.810T>C (p.Cys270=)
c.708T>C (p.Cys236=)
c.182T>C
c.720T>C (p.Cys240=)
c.681T>C (p.Cys227=)
 dbSNP gnomAD v4
3g.185519218A>TCA355688179LIPHc.810T>A (p.Cys270Ter)
c.708T>A (p.Cys236Ter)
c.182T>A
c.720T>A (p.Cys240Ter)
c.681T>A (p.Cys227Ter)
3g.185519219C>ACA355688185LIPHc.809G>T (p.Cys270Phe)
c.707G>T (p.Cys236Phe)
c.181G>T
c.719G>T (p.Cys240Phe)
c.680G>T (p.Cys227Phe)
3g.185519219C=CA1426522496LIPHc.809G= (p.Cys270=)
c.707G= (p.Cys236=)
c.181G=
c.719G= (p.Cys240=)
c.680G= (p.Cys227=)
3g.185519219C>GCA355688183LIPHc.809G>C (p.Cys270Ser)
c.707G>C (p.Cys236Ser)
c.181G>C
c.719G>C (p.Cys240Ser)
c.680G>C (p.Cys227Ser)
3g.185519219C>TCA355688181LIPHc.809G>A (p.Cys270Tyr)
c.707G>A (p.Cys236Tyr)
c.181G>A
c.719G>A (p.Cys240Tyr)
c.680G>A (p.Cys227Tyr)
 dbSNP gnomAD v3 gnomAD v4
3g.185519220A>CCA355688188LIPHc.808T>G (p.Cys270Gly)
c.706T>G (p.Cys236Gly)
c.180T>G
c.718T>G (p.Cys240Gly)
c.679T>G (p.Cys227Gly)
3g.185519220A>GCA355688192LIPHc.808T>C (p.Cys270Arg)
c.706T>C (p.Cys236Arg)
c.180T>C
c.718T>C (p.Cys240Arg)
c.679T>C (p.Cys227Arg)
3g.185519220A>TCA355688190LIPHc.808T>A (p.Cys270Ser)
c.706T>A (p.Cys236Ser)
c.180T>A
c.718T>A (p.Cys240Ser)
c.679T>A (p.Cys227Ser)
3g.185519221G>ACA437347286LIPHc.807C>T (p.Pro269=)
c.705C>T (p.Pro235=)
c.179C>T
c.717C>T (p.Pro239=)
c.678C>T (p.Pro226=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.185519221G>CCA437347287LIPHc.807C>G (p.Pro269=)
c.705C>G (p.Pro235=)
c.179C>G
c.717C>G (p.Pro239=)
c.678C>G (p.Pro226=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.185519221G=CA1426522497LIPHc.807C= (p.Pro269=)
c.705C= (p.Pro235=)
c.179C=
c.717C= (p.Pro239=)
c.678C= (p.Pro226=)
3g.185519221G>TCA437347288LIPHc.807C>A (p.Pro269=)
c.705C>A (p.Pro235=)
c.179C>A
c.717C>A (p.Pro239=)
c.678C>A (p.Pro226=)
 COSMIC
3g.185519222G>ACA355688195LIPHc.806C>T (p.Pro269Leu)
c.704C>T (p.Pro235Leu)
c.178C>T
c.716C>T (p.Pro239Leu)
c.677C>T (p.Pro226Leu)
3g.185519222G>CCA355688200LIPHc.806C>G (p.Pro269Arg)
c.704C>G (p.Pro235Arg)
c.178C>G
c.716C>G (p.Pro239Arg)
c.677C>G (p.Pro226Arg)
3g.185519222G>TCA355688197LIPHc.806C>A (p.Pro269His)
c.704C>A (p.Pro235His)
c.178C>A
c.716C>A (p.Pro239His)
c.677C>A (p.Pro226His)
3g.185519223G>ACA89578964LIPHc.805C>T (p.Pro269Ser)
c.703C>T (p.Pro235Ser)
c.177C>T
c.715C>T (p.Pro239Ser)
c.676C>T (p.Pro226Ser)
 dbSNP gnomAD v4
3g.185519223G>CCA355688204LIPHc.805C>G (p.Pro269Ala)
c.703C>G (p.Pro235Ala)
c.177C>G
c.715C>G (p.Pro239Ala)
c.676C>G (p.Pro226Ala)
3g.185519223G=CA1426522498LIPHc.805C= (p.Pro269=)
c.703C= (p.Pro235=)
c.177C=
c.715C= (p.Pro239=)
c.676C= (p.Pro226=)
3g.185519223G>TCA355688206LIPHc.805C>A (p.Pro269Thr)
c.703C>A (p.Pro235Thr)
c.177C>A
c.715C>A (p.Pro239Thr)
c.676C>A (p.Pro226Thr)
3g.185519224A=CA1426522499LIPHc.804T= (p.Tyr268=)
c.702T= (p.Tyr234=)
c.176T=
c.714T= (p.Tyr238=)
c.675T= (p.Tyr225=)
3g.185519224A>CCA355688209LIPHc.804T>G (p.Tyr268Ter)
c.702T>G (p.Tyr234Ter)
c.176T>G
c.714T>G (p.Tyr238Ter)
c.675T>G (p.Tyr225Ter)
3g.185519224A>GCA437347293LIPHc.804T>C (p.Tyr268=)
c.702T>C (p.Tyr234=)
c.176T>C
c.714T>C (p.Tyr238=)
c.675T>C (p.Tyr225=)
 dbSNP gnomAD v3 gnomAD v4
3g.185519224A>TCA355688212LIPHc.804T>A (p.Tyr268Ter)
c.702T>A (p.Tyr234Ter)
c.176T>A
c.714T>A (p.Tyr238Ter)
c.675T>A (p.Tyr225Ter)
3g.185519225T>ACA355688216LIPHc.803A>T (p.Tyr268Phe)
c.701A>T (p.Tyr234Phe)
c.175A>T
c.713A>T (p.Tyr238Phe)
c.674A>T (p.Tyr225Phe)
3g.185519225T>CCA355688219LIPHc.803A>G (p.Tyr268Cys)
c.701A>G (p.Tyr234Cys)
c.175A>G
c.713A>G (p.Tyr238Cys)
c.674A>G (p.Tyr225Cys)
 gnomAD v4
3g.185519225T>GCA355688222LIPHc.803A>C (p.Tyr268Ser)
c.701A>C (p.Tyr234Ser)
c.175A>C
c.713A>C (p.Tyr238Ser)
c.674A>C (p.Tyr225Ser)
3g.185519226A=CA1426522500LIPHc.802T= (p.Tyr268=)
c.700T= (p.Tyr234=)
c.174T=
c.712T= (p.Tyr238=)
c.673T= (p.Tyr225=)
3g.185519226A>CCA2740490LIPHc.802T>G (p.Tyr268Asp)
c.700T>G (p.Tyr234Asp)
c.174T>G
c.712T>G (p.Tyr238Asp)
c.673T>G (p.Tyr225Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.185519226A>GCA355688229LIPHc.802T>C (p.Tyr268His)
c.700T>C (p.Tyr234His)
c.174T>C
c.712T>C (p.Tyr238His)
c.673T>C (p.Tyr225His)
3g.185519226A>TCA355688232LIPHc.802T>A (p.Tyr268Asn)
c.700T>A (p.Tyr234Asn)
c.174T>A
c.712T>A (p.Tyr238Asn)
c.673T>A (p.Tyr225Asn)
3g.185519227C>ACA437347295LIPHc.801G>T (p.Ala267=)
c.699G>T (p.Ala233=)
c.173G>T
c.711G>T (p.Ala237=)
c.672G>T (p.Ala224=)
 gnomAD v4
3g.185519227C=CA1426522501LIPHc.801G= (p.Ala267=)
c.699G= (p.Ala233=)
c.173G=
c.711G= (p.Ala237=)
c.672G= (p.Ala224=)
3g.185519227C>GCA437347296LIPHc.801G>C (p.Ala267=)
c.699G>C (p.Ala233=)
c.173G>C
c.711G>C (p.Ala237=)
c.672G>C (p.Ala224=)
3g.185519227C>TCA2740491LIPHc.801G>A (p.Ala267=)
c.699G>A (p.Ala233=)
c.173G>A
c.711G>A (p.Ala237=)
c.672G>A (p.Ala224=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.185519228G>ACA2740492LIPHc.800C>T (p.Ala267Val)
c.698C>T (p.Ala233Val)
c.172C>T
c.710C>T (p.Ala237Val)
c.671C>T (p.Ala224Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.185519228G>CCA355688245LIPHc.800C>G (p.Ala267Gly)
c.698C>G (p.Ala233Gly)
c.172C>G
c.710C>G (p.Ala237Gly)
c.671C>G (p.Ala224Gly)
3g.185519228G=CA1426522502LIPHc.800C= (p.Ala267=)
c.698C= (p.Ala233=)
c.172C=
c.710C= (p.Ala237=)
c.671C= (p.Ala224=)
3g.185519228G>TCA355688242LIPHc.800C>A (p.Ala267Glu)
c.698C>A (p.Ala233Glu)
c.172C>A
c.710C>A (p.Ala237Glu)
c.671C>A (p.Ala224Glu)
 dbSNP gnomAD v3 gnomAD v4
3g.185519229C>ACA355688248LIPHc.799G>T (p.Ala267Ser)
c.697G>T (p.Ala233Ser)
c.171G>T
c.709G>T (p.Ala237Ser)
c.670G>T (p.Ala224Ser)
3g.185519229C=CA1426522503LIPHc.799G= (p.Ala267=)
c.697G= (p.Ala233=)
c.171G=
c.709G= (p.Ala237=)
c.670G= (p.Ala224=)
3g.185519229C>GCA355688251LIPHc.799G>C (p.Ala267Pro)
c.697G>C (p.Ala233Pro)
c.171G>C
c.709G>C (p.Ala237Pro)
c.670G>C (p.Ala224Pro)
3g.185519229C>TCA2740493LIPHc.799G>A (p.Ala267Thr)
c.697G>A (p.Ala233Thr)
c.171G>A
c.709G>A (p.Ala237Thr)
c.670G>A (p.Ala224Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.185519230A=CA1426522504LIPHc.798T= (p.Thr266=)
c.696T= (p.Thr232=)
c.170T=
c.708T= (p.Thr236=)
c.669T= (p.Thr223=)
3g.185519230A>CCA437347301LIPHc.798T>G (p.Thr266=)
c.696T>G (p.Thr232=)
c.170T>G
c.708T>G (p.Thr236=)
c.669T>G (p.Thr223=)
3g.185519230A>GCA2740494LIPHc.798T>C (p.Thr266=)
c.696T>C (p.Thr232=)
c.170T>C
c.708T>C (p.Thr236=)
c.669T>C (p.Thr223=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.185519230A>TCA437347304LIPHc.798T>A (p.Thr266=)
c.696T>A (p.Thr232=)
c.170T>A
c.708T>A (p.Thr236=)
c.669T>A (p.Thr223=)
3g.185519231G>ACA355688258LIPHc.797C>T (p.Thr266Ile)
c.695C>T (p.Thr232Ile)
c.169C>T
c.707C>T (p.Thr236Ile)
c.668C>T (p.Thr223Ile)
3g.185519231G>CCA355688261LIPHc.797C>G (p.Thr266Ser)
c.695C>G (p.Thr232Ser)
c.169C>G
c.707C>G (p.Thr236Ser)
c.668C>G (p.Thr223Ser)
 dbSNP gnomAD v3 gnomAD v4
3g.185519231G=CA1426522505LIPHc.797C= (p.Thr266=)
c.695C= (p.Thr232=)
c.169C=
c.707C= (p.Thr236=)
c.668C= (p.Thr223=)
3g.185519231G>TCA355688264LIPHc.797C>A (p.Thr266Asn)
c.695C>A (p.Thr232Asn)
c.169C>A
c.707C>A (p.Thr236Asn)
c.668C>A (p.Thr223Asn)
 dbSNP gnomAD v2 gnomAD v4
3g.185519232T>ACA355688267LIPHc.796A>T (p.Thr266Ser)
c.694A>T (p.Thr232Ser)
c.168A>T
c.706A>T (p.Thr236Ser)
c.667A>T (p.Thr223Ser)
3g.185519232T>CCA355688271LIPHc.796A>G (p.Thr266Ala)
c.694A>G (p.Thr232Ala)
c.168A>G
c.706A>G (p.Thr236Ala)
c.667A>G (p.Thr223Ala)
3g.185519232T>GCA355688274LIPHc.796A>C (p.Thr266Pro)
c.694A>C (p.Thr232Pro)
c.168A>C
c.706A>C (p.Thr236Pro)
c.667A>C (p.Thr223Pro)
3g.185519232_185519233delinsTGCA1426522506LIPHc.795_796delinsCA (p.Ile265=)
c.693_694delinsCA (p.Ile231=)
c.167_168delinsCA
c.705_706delinsCA (p.Ile235=)
c.666_667delinsCA (p.Ile222=)
3g.185519233delCA2740495LIPHc.795del (p.Thr266LeufsTer?)
c.693del (p.Thr232LeufsTer?)
c.167del
c.705del (p.Thr236LeufsTer?)
c.666del (p.Thr223LeufsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.185519233G>ACA437347307LIPHc.795C>T (p.Ile265=)
c.693C>T (p.Ile231=)
c.167C>T
c.705C>T (p.Ile235=)
c.666C>T (p.Ile222=)
3g.185519233G>CCA355688280LIPHc.795C>G (p.Ile265Met)
c.693C>G (p.Ile231Met)
c.167C>G
c.705C>G (p.Ile235Met)
c.666C>G (p.Ile222Met)
3g.185519233G>TCA437347309LIPHc.795C>A (p.Ile265=)
c.693C>A (p.Ile231=)
c.167C>A
c.705C>A (p.Ile235=)
c.666C>A (p.Ile222=)
3g.185519233dupCA2668901443LIPHc.795dup (p.Thr266HisfsTer6)
c.693dup (p.Thr232HisfsTer6)
c.167dup
c.705dup (p.Thr236HisfsTer6)
c.666dup (p.Thr223HisfsTer6)
 gnomAD v4
3g.185519234A=CA1426522507LIPHc.794T= (p.Ile265=)
c.692T= (p.Ile231=)
c.166T=
c.704T= (p.Ile235=)
c.665T= (p.Ile222=)
3g.185519234A>CCA355688285LIPHc.794T>G (p.Ile265Ser)
c.692T>G (p.Ile231Ser)
c.166T>G
c.704T>G (p.Ile235Ser)
c.665T>G (p.Ile222Ser)
3g.185519234A>GCA355688288LIPHc.794T>C (p.Ile265Thr)
c.692T>C (p.Ile231Thr)
c.166T>C
c.704T>C (p.Ile235Thr)
c.665T>C (p.Ile222Thr)
 dbSNP
3g.185519234A>TCA355688292LIPHc.794T>A (p.Ile265Asn)
c.692T>A (p.Ile231Asn)
c.166T>A
c.704T>A (p.Ile235Asn)
c.665T>A (p.Ile222Asn)
3g.185519235T>ACA355688297LIPHc.793A>T (p.Ile265Phe)
c.691A>T (p.Ile231Phe)
c.165A>T
c.703A>T (p.Ile235Phe)
c.664A>T (p.Ile222Phe)
3g.185519235T>CCA355688300LIPHc.793A>G (p.Ile265Val)
c.691A>G (p.Ile231Val)
c.165A>G
c.703A>G (p.Ile235Val)
c.664A>G (p.Ile222Val)
 dbSNP
3g.185519235T>GCA355688303LIPHc.793A>C (p.Ile265Leu)
c.691A>C (p.Ile231Leu)
c.165A>C
c.703A>C (p.Ile235Leu)
c.664A>C (p.Ile222Leu)
3g.185519235T=CA1426522508LIPHc.793A= (p.Ile265=)
c.691A= (p.Ile231=)
c.165A=
c.703A= (p.Ile235=)
c.664A= (p.Ile222=)
3g.185519236G>ACA437347313LIPHc.792C>T (p.Thr264=)
c.690C>T (p.Thr230=)
c.164C>T
c.702C>T (p.Thr234=)
c.663C>T (p.Thr221=)
 dbSNP gnomAD v3 gnomAD v4
3g.185519236G>CCA437347314LIPHc.792C>G (p.Thr264=)
c.690C>G (p.Thr230=)
c.164C>G
c.702C>G (p.Thr234=)
c.663C>G (p.Thr221=)
3g.185519236G=CA1426522509LIPHc.792C= (p.Thr264=)
c.690C= (p.Thr230=)
c.164C=
c.702C= (p.Thr234=)
c.663C= (p.Thr221=)
3g.185519236G>TCA437347315LIPHc.792C>A (p.Thr264=)
c.690C>A (p.Thr230=)
c.164C>A
c.702C>A (p.Thr234=)
c.663C>A (p.Thr221=)
 gnomAD v4
3g.185519237G>ACA355688310LIPHc.791C>T (p.Thr264Ile)
c.689C>T (p.Thr230Ile)
c.163C>T
c.701C>T (p.Thr234Ile)
c.662C>T (p.Thr221Ile)
3g.185519237G>CCA355688313LIPHc.791C>G (p.Thr264Ser)
c.689C>G (p.Thr230Ser)
c.163C>G
c.701C>G (p.Thr234Ser)
c.662C>G (p.Thr221Ser)
3g.185519237G>TCA355688317LIPHc.791C>A (p.Thr264Asn)
c.689C>A (p.Thr230Asn)
c.163C>A
c.701C>A (p.Thr234Asn)
c.662C>A (p.Thr221Asn)
3g.185519237_185519238delinsGTCA1426522510LIPHc.790_791delinsAC (p.Thr264=)
c.688_689delinsAC (p.Thr230=)
c.162_163delinsAC
c.700_701delinsAC (p.Thr234=)
c.661_662delinsAC (p.Thr221=)
3g.185519238delCA548796941LIPHc.790del (p.Thr264ProfsTer?)
c.688del (p.Thr230ProfsTer?)
c.162del
c.700del (p.Thr234ProfsTer?)
c.661del (p.Thr221ProfsTer?)
 dbSNP gnomAD v2 gnomAD v4
3g.185519238T>ACA355688323LIPHc.790A>T (p.Thr264Ser)
c.688A>T (p.Thr230Ser)
c.162A>T
c.700A>T (p.Thr234Ser)
c.661A>T (p.Thr221Ser)
3g.185519238T>CCA355688326LIPHc.790A>G (p.Thr264Ala)
c.688A>G (p.Thr230Ala)
c.162A>G
c.700A>G (p.Thr234Ala)
c.661A>G (p.Thr221Ala)
 gnomAD v4
3g.185519238T>GCA355688329LIPHc.790A>C (p.Thr264Pro)
c.688A>C (p.Thr230Pro)
c.162A>C
c.700A>C (p.Thr234Pro)
c.661A>C (p.Thr221Pro)
3g.185519238_185519239delinsTGCA1426522511LIPHc.789_790delinsCA (p.Cys263=)
c.687_688delinsCA (p.Cys229=)
c.161_162delinsCA
c.699_700delinsCA (p.Cys233=)
c.660_661delinsCA (p.Cys220=)
3g.185519239delCA2740496LIPHc.789del (p.Cys263Ter)
c.687del (p.Cys229Ter)
c.161del
c.699del (p.Cys233Ter)
c.660del (p.Cys220Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.185519239G>ACA89578977LIPHc.789C>T (p.Cys263=)
c.687C>T (p.Cys229=)
c.161C>T
c.699C>T (p.Cys233=)
c.660C>T (p.Cys220=)
 dbSNP
3g.185519239G>CCA355688336LIPHc.789C>G (p.Cys263Trp)
c.687C>G (p.Cys229Trp)
c.161C>G
c.699C>G (p.Cys233Trp)
c.660C>G (p.Cys220Trp)
3g.185519239G=CA1426522512LIPHc.789C= (p.Cys263=)
c.687C= (p.Cys229=)
c.161C=
c.699C= (p.Cys233=)
c.660C= (p.Cys220=)
3g.185519239G>TCA355688339LIPHc.789C>A (p.Cys263Ter)
c.687C>A (p.Cys229Ter)
c.161C>A
c.699C>A (p.Cys233Ter)
c.660C>A (p.Cys220Ter)
3g.185519240delCA355688355LIPHc.788del (p.Cys263SerfsTer?)
c.686del (p.Cys229SerfsTer?)
c.160del
c.698del (p.Cys233SerfsTer?)
c.659del (p.Cys220SerfsTer?)
3g.185519240C>ACA355688342LIPHc.788G>T (p.Cys263Phe)
c.686G>T (p.Cys229Phe)
c.160G>T
c.698G>T (p.Cys233Phe)
c.659G>T (p.Cys220Phe)
 dbSNP gnomAD v3 gnomAD v4
3g.185519240C=CA1426522513LIPHc.788G= (p.Cys263=)
c.686G= (p.Cys229=)
c.160G=
c.698G= (p.Cys233=)
c.659G= (p.Cys220=)
3g.185519240C>GCA355688346LIPHc.788G>C (p.Cys263Ser)
c.686G>C (p.Cys229Ser)
c.160G>C
c.698G>C (p.Cys233Ser)
c.659G>C (p.Cys220Ser)
3g.185519240C>TCA355688350LIPHc.788G>A (p.Cys263Tyr)
c.686G>A (p.Cys229Tyr)
c.160G>A
c.698G>A (p.Cys233Tyr)
c.659G>A (p.Cys220Tyr)
 dbSNP gnomAD v4
3g.185519241A>CCA355688366LIPHc.787T>G (p.Cys263Gly)
c.685T>G (p.Cys229Gly)
c.159T>G
c.697T>G (p.Cys233Gly)
c.658T>G (p.Cys220Gly)
3g.185519241A>GCA355688363LIPHc.787T>C (p.Cys263Arg)
c.685T>C (p.Cys229Arg)
c.159T>C
c.697T>C (p.Cys233Arg)
c.658T>C (p.Cys220Arg)
3g.185519241A>TCA355688360LIPHc.787T>A (p.Cys263Ser)
c.685T>A (p.Cys229Ser)
c.159T>A
c.697T>A (p.Cys233Ser)
c.658T>A (p.Cys220Ser)
3g.185519242G>ACA437347322LIPHc.786C>T (p.Ser262=)
c.684C>T (p.Ser228=)
c.158C>T
c.696C>T (p.Ser232=)
c.657C>T (p.Ser219=)
3g.185519242G>CCA355688369LIPHc.786C>G (p.Ser262Arg)
c.684C>G (p.Ser228Arg)
c.158C>G
c.696C>G (p.Ser232Arg)
c.657C>G (p.Ser219Arg)
3g.185519242G>TCA355688372LIPHc.786C>A (p.Ser262Arg)
c.684C>A (p.Ser228Arg)
c.158C>A
c.696C>A (p.Ser232Arg)
c.657C>A (p.Ser219Arg)
3g.185519242_185519246delinsGCTCTCA1426522514LIPHc.782_786delinsAGAGC (p.Glu261=)
c.680_684delinsAGAGC (p.Glu227=)
c.154_158delinsAGAGC
c.692_696delinsAGAGC (p.Glu231=)
c.653_657delinsAGAGC (p.Glu218=)
3g.185519243C>ACA355688378LIPHc.785G>T (p.Ser262Ile)
c.683G>T (p.Ser228Ile)
c.157G>T
c.695G>T (p.Ser232Ile)
c.656G>T (p.Ser219Ile)
3g.185519243C>GCA355688381LIPHc.785G>C (p.Ser262Thr)
c.683G>C (p.Ser228Thr)
c.157G>C
c.695G>C (p.Ser232Thr)
c.656G>C (p.Ser219Thr)
3g.185519243C>TCA355688385LIPHc.785G>A (p.Ser262Asn)
c.683G>A (p.Ser228Asn)
c.157G>A
c.695G>A (p.Ser232Asn)
c.656G>A (p.Ser219Asn)
 COSMIC
3g.185519250_185519251delCA1426522515LIPHc.784_785del (p.Ser262LeufsTer9)
c.682_683del (p.Ser228LeufsTer9)
c.156_157del
c.694_695del (p.Ser232LeufsTer9)
c.655_656del (p.Ser219LeufsTer9)
 dbSNP gnomAD v4
3g.185519248_185519251delCA2740497LIPHc.782_785del (p.Glu261AlafsTer?)
c.680_683del (p.Glu227AlafsTer?)
c.154_157del
c.692_695del (p.Glu231AlafsTer?)
c.653_656del (p.Glu218AlafsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.185519244T>ACA355688400LIPHc.784A>T (p.Ser262Cys)
c.682A>T (p.Ser228Cys)
c.156A>T
c.694A>T (p.Ser232Cys)
c.655A>T (p.Ser219Cys)
3g.185519244T>CCA355688395LIPHc.784A>G (p.Ser262Gly)
c.682A>G (p.Ser228Gly)
c.156A>G
c.694A>G (p.Ser232Gly)
c.655A>G (p.Ser219Gly)
 gnomAD v4
3g.185519244T>GCA355688393LIPHc.784A>C (p.Ser262Arg)
c.682A>C (p.Ser228Arg)
c.156A>C
c.694A>C (p.Ser232Arg)
c.655A>C (p.Ser219Arg)
3g.185519245C>ACA355688401LIPHc.783G>T (p.Glu261Asp)
c.681G>T (p.Glu227Asp)
c.155G>T
c.693G>T (p.Glu231Asp)
c.654G>T (p.Glu218Asp)
3g.185519245C=CA1426522516LIPHc.783G= (p.Glu261=)
c.681G= (p.Glu227=)
c.155G=
c.693G= (p.Glu231=)
c.654G= (p.Glu218=)
3g.185519245C>GCA355688403LIPHc.783G>C (p.Glu261Asp)
c.681G>C (p.Glu227Asp)
c.155G>C
c.693G>C (p.Glu231Asp)
c.654G>C (p.Glu218Asp)
 gnomAD v4
3g.185519245C>TCA437347327LIPHc.783G>A (p.Glu261=)
c.681G>A (p.Glu227=)
c.155G>A
c.693G>A (p.Glu231=)
c.654G>A (p.Glu218=)
 dbSNP gnomAD v3 gnomAD v4
3g.185519246T>ACA355688408LIPHc.782A>T (p.Glu261Val)
c.680A>T (p.Glu227Val)
c.154A>T
c.692A>T (p.Glu231Val)
c.653A>T (p.Glu218Val)
 gnomAD v4
3g.185519246T>CCA355688411LIPHc.782A>G (p.Glu261Gly)
c.680A>G (p.Glu227Gly)
c.154A>G
c.692A>G (p.Glu231Gly)
c.653A>G (p.Glu218Gly)
 dbSNP gnomAD v2 gnomAD v4
3g.185519246T>GCA355688415LIPHc.782A>C (p.Glu261Ala)
c.680A>C (p.Glu227Ala)
c.154A>C
c.692A>C (p.Glu231Ala)
c.653A>C (p.Glu218Ala)
3g.185519246T=CA1426522517LIPHc.782A= (p.Glu261=)
c.680A= (p.Glu227=)
c.154A=
c.692A= (p.Glu231=)
c.653A= (p.Glu218=)
3g.185519247delCA2759750269LIPHc.781del (p.Glu261ArgfsTer?)
c.679del (p.Glu227ArgfsTer?)
c.153del
c.691del (p.Glu231ArgfsTer?)
c.652del (p.Glu218ArgfsTer?)
3g.185519247C>ACA355688419LIPHc.781G>T (p.Glu261Ter)
c.679G>T (p.Glu227Ter)
c.153G>T
c.691G>T (p.Glu231Ter)
c.652G>T (p.Glu218Ter)
3g.185519247C=CA1426522518LIPHc.781G= (p.Glu261=)
c.679G= (p.Glu227=)
c.153G=
c.691G= (p.Glu231=)
c.652G= (p.Glu218=)
3g.185519247C>GCA355688421LIPHc.781G>C (p.Glu261Gln)
c.679G>C (p.Glu227Gln)
c.153G>C
c.691G>C (p.Glu231Gln)
c.652G>C (p.Glu218Gln)
 dbSNP gnomAD v3 gnomAD v4
3g.185519247C>TCA355688423LIPHc.781G>A (p.Glu261Lys)
c.679G>A (p.Glu227Lys)
c.153G>A
c.691G>A (p.Glu231Lys)
c.652G>A (p.Glu218Lys)
 gnomAD v4
3g.185519248T>ACA355688425LIPHc.780A>T (p.Arg260Ser)
c.678A>T (p.Arg226Ser)
c.152A>T
c.690A>T (p.Arg230Ser)
c.651A>T (p.Arg217Ser)
3g.185519248T>CCA437347332LIPHc.780A>G (p.Arg260=)
c.678A>G (p.Arg226=)
c.152A>G
c.690A>G (p.Arg230=)
c.651A>G (p.Arg217=)
3g.185519248T>GCA355688429LIPHc.780A>C (p.Arg260Ser)
c.678A>C (p.Arg226Ser)
c.152A>C
c.690A>C (p.Arg230Ser)
c.651A>C (p.Arg217Ser)
3g.185519249C>ACA355688433LIPHc.779G>T (p.Arg260Ile)
c.677G>T (p.Arg226Ile)
c.151G>T
c.689G>T (p.Arg230Ile)
c.650G>T (p.Arg217Ile)
3g.185519249C>GCA355688436LIPHc.779G>C (p.Arg260Thr)
c.677G>C (p.Arg226Thr)
c.151G>C
c.689G>C (p.Arg230Thr)
c.650G>C (p.Arg217Thr)
3g.185519249C>TCA355688438LIPHc.779G>A (p.Arg260Lys)
c.677G>A (p.Arg226Lys)
c.151G>A
c.689G>A (p.Arg230Lys)
c.650G>A (p.Arg217Lys)
3g.185519250T>ACA355688442LIPHc.778A>T (p.Arg260Ter)
c.676A>T (p.Arg226Ter)
c.150A>T
c.688A>T (p.Arg230Ter)
c.649A>T (p.Arg217Ter)
3g.185519250T>CCA355688445LIPHc.778A>G (p.Arg260Gly)
c.676A>G (p.Arg226Gly)
c.150A>G
c.688A>G (p.Arg230Gly)
c.649A>G (p.Arg217Gly)
3g.185519250T>GCA437347336LIPHc.778A>C (p.Arg260=)
c.676A>C (p.Arg226=)
c.150A>C
c.688A>C (p.Arg230=)
c.649A>C (p.Arg217=)
3g.185519251C>ACA437347337LIPHc.777G>T (p.Leu259=)
c.675G>T (p.Leu225=)
c.149G>T
c.687G>T (p.Leu229=)
c.648G>T (p.Leu216=)
3g.185519251C=CA1426522519LIPHc.777G= (p.Leu259=)
c.675G= (p.Leu225=)
c.149G=
c.687G= (p.Leu229=)
c.648G= (p.Leu216=)
3g.185519251C>GCA437347339LIPHc.777G>C (p.Leu259=)
c.675G>C (p.Leu225=)
c.149G>C
c.687G>C (p.Leu229=)
c.648G>C (p.Leu216=)
 dbSNP
3g.185519251C>TCA437347340LIPHc.777G>A (p.Leu259=)
c.675G>A (p.Leu225=)
c.149G>A
c.687G>A (p.Leu229=)
c.648G>A (p.Leu216=)
3g.185519255_185519263delCA2668901444LIPHc.769_777del (p.Ser257_Leu259del)
c.667_675del (p.Ser223_Leu225del)
c.141_149del
c.679_687del (p.Ser227_Leu229del)
c.640_648del (p.Ser214_Leu216del)
 gnomAD v4
3g.185519252A=CA1426522520LIPHc.776T= (p.Leu259=)
c.674T= (p.Leu225=)
c.148T=
c.686T= (p.Leu229=)
c.647T= (p.Leu216=)
3g.185519252A>CCA355688450LIPHc.776T>G (p.Leu259Arg)
c.674T>G (p.Leu225Arg)
c.148T>G
c.686T>G (p.Leu229Arg)
c.647T>G (p.Leu216Arg)
3g.185519252A>GCA2740498LIPHc.776T>C (p.Leu259Pro)
c.674T>C (p.Leu225Pro)
c.148T>C
c.686T>C (p.Leu229Pro)
c.647T>C (p.Leu216Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.185519252A>TCA355688453LIPHc.776T>A (p.Leu259Gln)
c.674T>A (p.Leu225Gln)
c.148T>A
c.686T>A (p.Leu229Gln)
c.647T>A (p.Leu216Gln)
3g.185519253G>ACA437347342LIPHc.775C>T (p.Leu259=)
c.673C>T (p.Leu225=)
c.147C>T
c.685C>T (p.Leu229=)
c.646C>T (p.Leu216=)
3g.185519253G>CCA355688458LIPHc.775C>G (p.Leu259Val)
c.673C>G (p.Leu225Val)
c.147C>G
c.685C>G (p.Leu229Val)
c.646C>G (p.Leu216Val)
3g.185519253G>TCA355688463LIPHc.775C>A (p.Leu259Met)
c.673C>A (p.Leu225Met)
c.147C>A
c.685C>A (p.Leu229Met)
c.646C>A (p.Leu216Met)
3g.185519255delCA2577992873LIPHc.775del (p.Leu259Ter)
c.673del (p.Leu225Ter)
c.147del
c.685del (p.Leu229Ter)
c.646del (p.Leu216Ter)
3g.185519254G>ACA2740499LIPHc.774C>T (p.Ser258=)
c.672C>T (p.Ser224=)
c.146C>T
c.684C>T (p.Ser228=)
c.645C>T (p.Ser215=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.185519254G>CCA437347343LIPHc.774C>G (p.Ser258=)
c.672C>G (p.Ser224=)
c.146C>G
c.684C>G (p.Ser228=)
c.645C>G (p.Ser215=)
3g.185519254G=CA1426522521LIPHc.774C= (p.Ser258=)
c.672C= (p.Ser224=)
c.146C=
c.684C= (p.Ser228=)
c.645C= (p.Ser215=)
3g.185519254G>TCA437347344LIPHc.774C>A (p.Ser258=)
c.672C>A (p.Ser224=)
c.146C>A
c.684C>A (p.Ser228=)
c.645C>A (p.Ser215=)
3g.185519255G>ACA355688470LIPHc.773C>T (p.Ser258Phe)
c.671C>T (p.Ser224Phe)
c.145C>T
c.683C>T (p.Ser228Phe)
c.644C>T (p.Ser215Phe)
 gnomAD v4 COSMIC
3g.185519255G>CCA355688474LIPHc.773C>G (p.Ser258Cys)
c.671C>G (p.Ser224Cys)
c.145C>G
c.683C>G (p.Ser228Cys)
c.644C>G (p.Ser215Cys)
3g.185519255G>TCA355688476LIPHc.773C>A (p.Ser258Tyr)
c.671C>A (p.Ser224Tyr)
c.145C>A
c.683C>A (p.Ser228Tyr)
c.644C>A (p.Ser215Tyr)
 gnomAD v4
3g.185519256A=CA1426522522LIPHc.772T= (p.Ser258=)
c.670T= (p.Ser224=)
c.144T=
c.682T= (p.Ser228=)
c.643T= (p.Ser215=)
3g.185519256A>CCA355688481LIPHc.772T>G (p.Ser258Ala)
c.670T>G (p.Ser224Ala)
c.144T>G
c.682T>G (p.Ser228Ala)
c.643T>G (p.Ser215Ala)
3g.185519256A>GCA355688483LIPHc.772T>C (p.Ser258Pro)
c.670T>C (p.Ser224Pro)
c.144T>C
c.682T>C (p.Ser228Pro)
c.643T>C (p.Ser215Pro)
 dbSNP gnomAD v3 gnomAD v4
3g.185519256A>TCA355688490LIPHc.772T>A (p.Ser258Thr)
c.670T>A (p.Ser224Thr)
c.144T>A
c.682T>A (p.Ser228Thr)
c.643T>A (p.Ser215Thr)
3g.185519257A>CCA437347345LIPHc.771T>G (p.Ser257=)
c.669T>G (p.Ser223=)
c.143T>G
c.681T>G (p.Ser227=)
c.642T>G (p.Ser214=)
3g.185519257A>GCA437347346LIPHc.771T>C (p.Ser257=)
c.669T>C (p.Ser223=)
c.143T>C
c.681T>C (p.Ser227=)
c.642T>C (p.Ser214=)
3g.185519257A>TCA437347347LIPHc.771T>A (p.Ser257=)
c.669T>A (p.Ser223=)
c.143T>A
c.681T>A (p.Ser227=)
c.642T>A (p.Ser214=)
3g.185519258G>ACA355688495LIPHc.770C>T (p.Ser257Phe)
c.668C>T (p.Ser223Phe)
c.142C>T
c.680C>T (p.Ser227Phe)
c.641C>T (p.Ser214Phe)
3g.185519258G>CCA355688498LIPHc.770C>G (p.Ser257Cys)
c.668C>G (p.Ser223Cys)
c.142C>G
c.680C>G (p.Ser227Cys)
c.641C>G (p.Ser214Cys)
3g.185519258G>TCA355688501LIPHc.770C>A (p.Ser257Tyr)
c.668C>A (p.Ser223Tyr)
c.142C>A
c.680C>A (p.Ser227Tyr)
c.641C>A (p.Ser214Tyr)
3g.185519259A=CA1426522523LIPHc.769T= (p.Ser257=)
c.667T= (p.Ser223=)
c.141T=
c.679T= (p.Ser227=)
c.640T= (p.Ser214=)
3g.185519259A>CCA355688506LIPHc.769T>G (p.Ser257Ala)
c.667T>G (p.Ser223Ala)
c.141T>G
c.679T>G (p.Ser227Ala)
c.640T>G (p.Ser214Ala)
3g.185519259A>GCA355688513LIPHc.769T>C (p.Ser257Pro)
c.667T>C (p.Ser223Pro)
c.141T>C
c.679T>C (p.Ser227Pro)
c.640T>C (p.Ser214Pro)
 COSMIC
3g.185519259A>TCA2740500LIPHc.769T>A (p.Ser257Thr)
c.667T>A (p.Ser223Thr)
c.141T>A
c.679T>A (p.Ser227Thr)
c.640T>A (p.Ser214Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.185519260C>ACA437347348LIPHc.768G>T (p.Leu256=)
c.666G>T (p.Leu222=)
c.140G>T
c.678G>T (p.Leu226=)
c.639G>T (p.Leu213=)
3g.185519260C>GCA437347349LIPHc.768G>C (p.Leu256=)
c.666G>C (p.Leu222=)
c.140G>C
c.678G>C (p.Leu226=)
c.639G>C (p.Leu213=)
3g.185519260C>TCA437347350LIPHc.768G>A (p.Leu256=)
c.666G>A (p.Leu222=)
c.140G>A
c.678G>A (p.Leu226=)
c.639G>A (p.Leu213=)
3g.185519261A>CCA355688518LIPHc.767T>G (p.Leu256Arg)
c.665T>G (p.Leu222Arg)
c.139T>G
c.677T>G (p.Leu226Arg)
c.638T>G (p.Leu213Arg)
3g.185519261A>GCA355688521LIPHc.767T>C (p.Leu256Pro)
c.665T>C (p.Leu222Pro)
c.139T>C
c.677T>C (p.Leu226Pro)
c.638T>C (p.Leu213Pro)
3g.185519261A>TCA355688530LIPHc.767T>A (p.Leu256Gln)
c.665T>A (p.Leu222Gln)
c.139T>A
c.677T>A (p.Leu226Gln)
c.638T>A (p.Leu213Gln)
 gnomAD v4
3g.185519262G>ACA437347351LIPHc.766C>T (p.Leu256=)
c.664C>T (p.Leu222=)
c.138C>T
c.676C>T (p.Leu226=)
c.637C>T (p.Leu213=)
 gnomAD v4
3g.185519262G>CCA355688533LIPHc.766C>G (p.Leu256Val)
c.664C>G (p.Leu222Val)
c.138C>G
c.676C>G (p.Leu226Val)
c.637C>G (p.Leu213Val)
3g.185519262G>TCA355688537LIPHc.766C>A (p.Leu256Met)
c.664C>A (p.Leu222Met)
c.138C>A
c.676C>A (p.Leu226Met)
c.637C>A (p.Leu213Met)
3g.185519263G>ACA437347352LIPHc.765C>T (p.Tyr255=)
c.663C>T (p.Tyr221=)
c.137C>T
c.675C>T (p.Tyr225=)
c.636C>T (p.Tyr212=)
 gnomAD v4
3g.185519263G>CCA355688539LIPHc.765C>G (p.Tyr255Ter)
c.663C>G (p.Tyr221Ter)
c.137C>G
c.675C>G (p.Tyr225Ter)
c.636C>G (p.Tyr212Ter)
3g.185519263G>TCA355688542LIPHc.765C>A (p.Tyr255Ter)
c.663C>A (p.Tyr221Ter)
c.137C>A
c.675C>A (p.Tyr225Ter)
c.636C>A (p.Tyr212Ter)
3g.185519264delCA2567035899LIPHc.764del (p.Tyr255SerfsTer5)
c.662del (p.Tyr221SerfsTer5)
c.136del
c.674del (p.Tyr225SerfsTer5)
c.635del (p.Tyr212SerfsTer5)
3g.185519264T>ACA355688547LIPHc.764A>T (p.Tyr255Phe)
c.662A>T (p.Tyr221Phe)
c.136A>T
c.674A>T (p.Tyr225Phe)
c.635A>T (p.Tyr212Phe)
3g.185519264T>CCA355688551LIPHc.764A>G (p.Tyr255Cys)
c.662A>G (p.Tyr221Cys)
c.136A>G
c.674A>G (p.Tyr225Cys)
c.635A>G (p.Tyr212Cys)
3g.185519264T>GCA2740501LIPHc.764A>C (p.Tyr255Ser)
c.662A>C (p.Tyr221Ser)
c.136A>C
c.674A>C (p.Tyr225Ser)
c.635A>C (p.Tyr212Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.185519264T=CA1426522524LIPHc.764A= (p.Tyr255=)
c.662A= (p.Tyr221=)
c.136A=
c.674A= (p.Tyr225=)
c.635A= (p.Tyr212=)
3g.185519265A=CA1426522525LIPHc.763T= (p.Tyr255=)
c.661T= (p.Tyr221=)
c.135T=
c.673T= (p.Tyr225=)
c.634T= (p.Tyr212=)
3g.185519265A>CCA355688554LIPHc.763T>G (p.Tyr255Asp)
c.661T>G (p.Tyr221Asp)
c.135T>G
c.673T>G (p.Tyr225Asp)
c.634T>G (p.Tyr212Asp)
3g.185519265A>GCA355688555LIPHc.763T>C (p.Tyr255His)
c.661T>C (p.Tyr221His)
c.135T>C
c.673T>C (p.Tyr225His)
c.634T>C (p.Tyr212His)
 dbSNP
3g.185519265A>TCA355688556LIPHc.763T>A (p.Tyr255Asn)
c.661T>A (p.Tyr221Asn)
c.135T>A
c.673T>A (p.Tyr225Asn)
c.634T>A (p.Tyr212Asn)
 dbSNP
3g.185519266C>ACA437347354LIPHc.762G>T (p.Leu254=)
c.660G>T (p.Leu220=)
c.134G>T
c.672G>T (p.Leu224=)
c.633G>T (p.Leu211=)
3g.185519266C=CA1426522526LIPHc.762G= (p.Leu254=)
c.660G= (p.Leu220=)
c.134G=
c.672G= (p.Leu224=)
c.633G= (p.Leu211=)
3g.185519266C>GCA437347355LIPHc.762G>C (p.Leu254=)
c.660G>C (p.Leu220=)
c.134G>C
c.672G>C (p.Leu224=)
c.633G>C (p.Leu211=)
 dbSNP
3g.185519266C>TCA437347353LIPHc.762G>A (p.Leu254=)
c.660G>A (p.Leu220=)
c.134G>A
c.672G>A (p.Leu224=)
c.633G>A (p.Leu211=)
 dbSNP gnomAD v4
3g.185519267A=CA1426522527LIPHc.761T= (p.Leu254=)
c.659T= (p.Leu220=)
c.133T=
c.671T= (p.Leu224=)
c.632T= (p.Leu211=)
3g.185519267A>CCA355688572LIPHc.761T>G (p.Leu254Arg)
c.659T>G (p.Leu220Arg)
c.133T>G
c.671T>G (p.Leu224Arg)
c.632T>G (p.Leu211Arg)
3g.185519267A>GCA355688559LIPHc.761T>C (p.Leu254Pro)
c.659T>C (p.Leu220Pro)
c.133T>C
c.671T>C (p.Leu224Pro)
c.632T>C (p.Leu211Pro)
 dbSNP
3g.185519267A>TCA355688570LIPHc.761T>A (p.Leu254Gln)
c.659T>A (p.Leu220Gln)
c.133T>A
c.671T>A (p.Leu224Gln)
c.632T>A (p.Leu211Gln)
3g.185519268G>ACA437347356LIPHc.760C>T (p.Leu254=)
c.658C>T (p.Leu220=)
c.132C>T
c.670C>T (p.Leu224=)
c.631C>T (p.Leu211=)
3g.185519268G>CCA355688577LIPHc.760C>G (p.Leu254Val)
c.658C>G (p.Leu220Val)
c.132C>G
c.670C>G (p.Leu224Val)
c.631C>G (p.Leu211Val)
3g.185519268G>TCA355688579LIPHc.760C>A (p.Leu254Met)
c.658C>A (p.Leu220Met)
c.132C>A
c.670C>A (p.Leu224Met)
c.631C>A (p.Leu211Met)
3g.185519269G>ACA437347357LIPHc.759C>T (p.Tyr253=)
c.657C>T (p.Tyr219=)
c.131C>T
c.669C>T (p.Tyr223=)
c.630C>T (p.Tyr210=)
3g.185519269G>CCA355688585LIPHc.759C>G (p.Tyr253Ter)
c.657C>G (p.Tyr219Ter)
c.131C>G
c.669C>G (p.Tyr223Ter)
c.630C>G (p.Tyr210Ter)
3g.185519269G>TCA355688588LIPHc.759C>A (p.Tyr253Ter)
c.657C>A (p.Tyr219Ter)
c.131C>A
c.669C>A (p.Tyr223Ter)
c.630C>A (p.Tyr210Ter)
3g.185519270T>ACA355688592LIPHc.758A>T (p.Tyr253Phe)
c.656A>T (p.Tyr219Phe)
c.130A>T
c.668A>T (p.Tyr223Phe)
c.629A>T (p.Tyr210Phe)
3g.185519270T>CCA355688597LIPHc.758A>G (p.Tyr253Cys)
c.656A>G (p.Tyr219Cys)
c.130A>G
c.668A>G (p.Tyr223Cys)
c.629A>G (p.Tyr210Cys)
3g.185519270T>GCA355688600LIPHc.758A>C (p.Tyr253Ser)
c.656A>C (p.Tyr219Ser)
c.130A>C
c.668A>C (p.Tyr223Ser)
c.629A>C (p.Tyr210Ser)
3g.185519270_185519274delinsTATACCA1426522528LIPHc.754_758delinsGTATA (p.Val252=)
c.652_656delinsGTATA (p.Val218=)
c.126_130delinsGTATA
c.664_668delinsGTATA (p.Val222=)
c.625_629delinsGTATA (p.Val209=)
3g.185519271A>CCA355688603LIPHc.757T>G (p.Tyr253Asp)
c.655T>G (p.Tyr219Asp)
c.129T>G
c.667T>G (p.Tyr223Asp)
c.628T>G (p.Tyr210Asp)
3g.185519271A>GCA355688607LIPHc.757T>C (p.Tyr253His)
c.655T>C (p.Tyr219His)
c.129T>C
c.667T>C (p.Tyr223His)
c.628T>C (p.Tyr210His)
3g.185519271A>TCA355688611LIPHc.757T>A (p.Tyr253Asn)
c.655T>A (p.Tyr219Asn)
c.129T>A
c.667T>A (p.Tyr223Asn)
c.628T>A (p.Tyr210Asn)
3g.185519272_185519275delCA89578988LIPHc.754_757del (p.Val252ThrfsTer7)
c.652_655del (p.Val218ThrfsTer7)
c.126_129del
c.664_667del (p.Val222ThrfsTer7)
c.625_628del (p.Val209ThrfsTer7)
 dbSNP gnomAD v3 gnomAD v4
3g.185519272T>ACA437347358LIPHc.756A>T (p.Val252=)
c.654A>T (p.Val218=)
c.128A>T
c.666A>T (p.Val222=)
c.627A>T (p.Val209=)
3g.185519272T>CCA437347359LIPHc.756A>G (p.Val252=)
c.654A>G (p.Val218=)
c.128A>G
c.666A>G (p.Val222=)
c.627A>G (p.Val209=)
 dbSNP gnomAD v4
3g.185519272T>GCA2740502LIPHc.756A>C (p.Val252=)
c.654A>C (p.Val218=)
c.128A>C
c.666A>C (p.Val222=)
c.627A>C (p.Val209=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.185519272T=CA1426522529LIPHc.756A= (p.Val252=)
c.654A= (p.Val218=)
c.128A=
c.666A= (p.Val222=)
c.627A= (p.Val209=)
3g.185519272_185519276delinsTACAGCA1426522530LIPHc.752_756delinsCTGTA (p.Ser251=)
c.650_654delinsCTGTA (p.Ser217=)
c.124_128delinsCTGTA
c.662_666delinsCTGTA (p.Ser221=)
c.623_627delinsCTGTA (p.Ser208=)
3g.185519273A>CCA355688615LIPHc.755T>G (p.Val252Gly)
c.653T>G (p.Val218Gly)
c.127T>G
c.665T>G (p.Val222Gly)
c.626T>G (p.Val209Gly)
3g.185519273A>GCA355688620LIPHc.755T>C (p.Val252Ala)
c.653T>C (p.Val218Ala)
c.127T>C
c.665T>C (p.Val222Ala)
c.626T>C (p.Val209Ala)
3g.185519273A>TCA355688622LIPHc.755T>A (p.Val252Glu)
c.653T>A (p.Val218Glu)
c.127T>A
c.665T>A (p.Val222Glu)
c.626T>A (p.Val209Glu)
3g.185519275_185519278delCA2740503LIPHc.752_755del (p.Ser251TyrfsTer8)
c.650_653del (p.Ser217TyrfsTer8)
c.124_127del
c.662_665del (p.Ser221TyrfsTer8)
c.623_626del (p.Ser208TyrfsTer8)
 dbSNP ExAC gnomAD v2
3g.185519274C>ACA355688630LIPHc.754G>T (p.Val252Leu)
c.652G>T (p.Val218Leu)
c.126G>T
c.664G>T (p.Val222Leu)
c.625G>T (p.Val209Leu)
3g.185519274C=CA1426522531LIPHc.754G= (p.Val252=)
c.652G= (p.Val218=)
c.126G=
c.664G= (p.Val222=)
c.625G= (p.Val209=)
3g.185519274C>GCA355688627LIPHc.754G>C (p.Val252Leu)
c.652G>C (p.Val218Leu)
c.126G>C
c.664G>C (p.Val222Leu)
c.625G>C (p.Val209Leu)
 dbSNP gnomAD v4
3g.185519274C>TCA89578993LIPHc.754G>A (p.Val252Ile)
c.652G>A (p.Val218Ile)
c.126G>A
c.664G>A (p.Val222Ile)
c.625G>A (p.Val209Ile)
 dbSNP gnomAD v4
3g.185519275A>CCA437347360LIPHc.753T>G (p.Ser251=)
c.651T>G (p.Ser217=)
c.125T>G
c.663T>G (p.Ser221=)
c.624T>G (p.Ser208=)
3g.185519275A>GCA437347361LIPHc.753T>C (p.Ser251=)
c.651T>C (p.Ser217=)
c.125T>C
c.663T>C (p.Ser221=)
c.624T>C (p.Ser208=)
3g.185519275A>TCA437347362LIPHc.753T>A (p.Ser251=)
c.651T>A (p.Ser217=)
c.125T>A
c.663T>A (p.Ser221=)
c.624T>A (p.Ser208=)
3g.185519276G>ACA2740504LIPHc.752C>T (p.Ser251Phe)
c.650C>T (p.Ser217Phe)
c.124C>T
c.662C>T (p.Ser221Phe)
c.623C>T (p.Ser208Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.185519276G>CCA355688643LIPHc.752C>G (p.Ser251Cys)
c.650C>G (p.Ser217Cys)
c.124C>G
c.662C>G (p.Ser221Cys)
c.623C>G (p.Ser208Cys)
3g.185519276G=CA1426522532LIPHc.752C= (p.Ser251=)
c.650C= (p.Ser217=)
c.124C=
c.662C= (p.Ser221=)
c.623C= (p.Ser208=)
3g.185519276G>TCA355688641LIPHc.752C>A (p.Ser251Tyr)
c.650C>A (p.Ser217Tyr)
c.124C>A
c.662C>A (p.Ser221Tyr)
c.623C>A (p.Ser208Tyr)
3g.185519277A>CCA355688647LIPHc.751T>G (p.Ser251Ala)
c.649T>G (p.Ser217Ala)
c.123T>G
c.661T>G (p.Ser221Ala)
c.622T>G (p.Ser208Ala)
3g.185519277A>GCA355688653LIPHc.751T>C (p.Ser251Pro)
c.649T>C (p.Ser217Pro)
c.123T>C
c.661T>C (p.Ser221Pro)
c.622T>C (p.Ser208Pro)
3g.185519277A>TCA355688649LIPHc.751T>A (p.Ser251Thr)
c.649T>A (p.Ser217Thr)
c.123T>A
c.661T>A (p.Ser221Thr)
c.622T>A (p.Ser208Thr)
3g.185519278C>ACA355688658LIPHc.750G>T (p.Arg250Ser)
c.648G>T (p.Arg216Ser)
c.122G>T
c.660G>T (p.Arg220Ser)
c.621G>T (p.Arg207Ser)
3g.185519278C>GCA355688661LIPHc.750G>C (p.Arg250Ser)
c.648G>C (p.Arg216Ser)
c.122G>C
c.660G>C (p.Arg220Ser)
c.621G>C (p.Arg207Ser)
3g.185519278C>TCA437347363LIPHc.750G>A (p.Arg250=)
c.648G>A (p.Arg216=)
c.122G>A
c.660G>A (p.Arg220=)
c.621G>A (p.Arg207=)
3g.185519279C>ACA2740505LIPHc.749G>T (p.Arg250Met)
c.647G>T (p.Arg216Met)
c.121G>T
c.659G>T (p.Arg220Met)
c.620G>T (p.Arg207Met)
 dbSNP ExAC gnomAD v4
3g.185519279C=CA1426522533LIPHc.749G= (p.Arg250=)
c.647G= (p.Arg216=)
c.121G=
c.659G= (p.Arg220=)
c.620G= (p.Arg207=)
3g.185519279C>GCA355688668LIPHc.749G>C (p.Arg250Thr)
c.647G>C (p.Arg216Thr)
c.121G>C
c.659G>C (p.Arg220Thr)
c.620G>C (p.Arg207Thr)
3g.185519279C>TCA355688666LIPHc.749G>A (p.Arg250Lys)
c.647G>A (p.Arg216Lys)
c.121G>A
c.659G>A (p.Arg220Lys)
c.620G>A (p.Arg207Lys)
 dbSNP gnomAD v2 gnomAD v4
3g.185519280T>ACA355688671LIPHc.748A>T (p.Arg250Trp)
c.646A>T (p.Arg216Trp)
c.120A>T
c.658A>T (p.Arg220Trp)
c.619A>T (p.Arg207Trp)
3g.185519280T>CCA355688673LIPHc.748A>G (p.Arg250Gly)
c.646A>G (p.Arg216Gly)
c.120A>G
c.658A>G (p.Arg220Gly)
c.619A>G (p.Arg207Gly)
3g.185519280T>GCA437347364LIPHc.748A>C (p.Arg250=)
c.646A>C (p.Arg216=)
c.120A>C
c.658A>C (p.Arg220=)
c.619A>C (p.Arg207=)
3g.185519281C>ACA355688676LIPHc.747G>T (p.Gln249His)
c.645G>T (p.Gln215His)
c.119G>T
c.657G>T (p.Gln219His)
c.618G>T (p.Gln206His)
3g.185519281C>GCA355688678LIPHc.747G>C (p.Gln249His)
c.645G>C (p.Gln215His)
c.119G>C
c.657G>C (p.Gln219His)
c.618G>C (p.Gln206His)
3g.185519281C>TCA437347365LIPHc.747G>A (p.Gln249=)
c.645G>A (p.Gln215=)
c.119G>A
c.657G>A (p.Gln219=)
c.618G>A (p.Gln206=)
3g.185519282T>ACA355688681LIPHc.746A>T (p.Gln249Leu)
c.644A>T (p.Gln215Leu)
c.118A>T
c.656A>T (p.Gln219Leu)
c.617A>T (p.Gln206Leu)
3g.185519282T>CCA355688682LIPHc.746A>G (p.Gln249Arg)
c.644A>G (p.Gln215Arg)
c.118A>G
c.656A>G (p.Gln219Arg)
c.617A>G (p.Gln206Arg)
 dbSNP gnomAD v2 gnomAD v4
3g.185519282T>GCA355688683LIPHc.746A>C (p.Gln249Pro)
c.644A>C (p.Gln215Pro)
c.118A>C
c.656A>C (p.Gln219Pro)
c.617A>C (p.Gln206Pro)
3g.185519282T=CA1426522534LIPHc.746A= (p.Gln249=)
c.644A= (p.Gln215=)
c.118A=
c.656A= (p.Gln219=)
c.617A= (p.Gln206=)
3g.185519283G>ACA355688687LIPHc.745C>T (p.Gln249Ter)
c.643C>T (p.Gln215Ter)
c.117C>T
c.655C>T (p.Gln219Ter)
c.616C>T (p.Gln206Ter)
3g.185519283G>CCA355688688LIPHc.745C>G (p.Gln249Glu)
c.643C>G (p.Gln215Glu)
c.117C>G
c.655C>G (p.Gln219Glu)
c.616C>G (p.Gln206Glu)
3g.185519283G>TCA355688690LIPHc.745C>A (p.Gln249Lys)
c.643C>A (p.Gln215Lys)
c.117C>A
c.655C>A (p.Gln219Lys)
c.616C>A (p.Gln206Lys)
3g.185519284G>ACA437347366LIPHc.744C>T (p.His248=)
c.642C>T (p.His214=)
c.116C>T
c.654C>T (p.His218=)
c.615C>T (p.His205=)
3g.185519284G>CCA355688693LIPHc.744C>G (p.His248Gln)
c.642C>G (p.His214Gln)
c.116C>G
c.654C>G (p.His218Gln)
c.615C>G (p.His205Gln)
3g.185519284G>TCA355688696LIPHc.744C>A (p.His248Gln)
c.642C>A (p.His214Gln)
c.116C>A
c.654C>A (p.His218Gln)
c.615C>A (p.His205Gln)
3g.185519285T>ACA355688703LIPHc.743A>T (p.His248Leu)
c.641A>T (p.His214Leu)
c.115A>T
c.653A>T (p.His218Leu)
c.614A>T (p.His205Leu)
3g.185519285T>CCA355688700LIPHc.743A>G (p.His248Arg)
c.641A>G (p.His214Arg)
c.115A>G
c.653A>G (p.His218Arg)
c.614A>G (p.His205Arg)
 gnomAD v4
3g.185519285T>GCA355688698LIPHc.743A>C (p.His248Pro)
c.641A>C (p.His214Pro)
c.115A>C
c.653A>C (p.His218Pro)
c.614A>C (p.His205Pro)
3g.185519286G>ACA355688706LIPHc.742C>T (p.His248Tyr)
c.640C>T (p.His214Tyr)
c.114C>T
c.652C>T (p.His218Tyr)
c.613C>T (p.His205Tyr)
3g.185519286G>CCA355688708LIPHc.742C>G (p.His248Asp)
c.640C>G (p.His214Asp)
c.114C>G
c.652C>G (p.His218Asp)
c.613C>G (p.His205Asp)
 gnomAD v4
3g.185519286G=CA1426522535LIPHc.742C= (p.His248=)
c.640C= (p.His214=)
c.114C=
c.652C= (p.His218=)
c.613C= (p.His205=)
3g.185519286G>TCA129388LIPHc.742C>A (p.His248Asn)
c.640C>A (p.His214Asn)
c.114C>A
c.652C>A (p.His218Asn)
c.613C>A (p.His205Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.185519287G>ACA437347367LIPHc.741C>T (p.Asp247=)
c.639C>T (p.Asp213=)
c.113C>T
c.651C>T (p.Asp217=)
c.612C>T (p.Asp204=)
3g.185519287G>CCA355688712LIPHc.741C>G (p.Asp247Glu)
c.639C>G (p.Asp213Glu)
c.113C>G
c.651C>G (p.Asp217Glu)
c.612C>G (p.Asp204Glu)
3g.185519287G>TCA355688713LIPHc.741C>A (p.Asp247Glu)
c.639C>A (p.Asp213Glu)
c.113C>A
c.651C>A (p.Asp217Glu)
c.612C>A (p.Asp204Glu)
3g.185519288T>ACA355688716LIPHc.740A>T (p.Asp247Val)
c.638A>T (p.Asp213Val)
c.112A>T
c.650A>T (p.Asp217Val)
c.611A>T (p.Asp204Val)
3g.185519288T>CCA355688717LIPHc.740A>G (p.Asp247Gly)
c.638A>G (p.Asp213Gly)
c.112A>G
c.650A>G (p.Asp217Gly)
c.611A>G (p.Asp204Gly)
3g.185519288T>GCA355688719LIPHc.740A>C (p.Asp247Ala)
c.638A>C (p.Asp213Ala)
c.112A>C
c.650A>C (p.Asp217Ala)
c.611A>C (p.Asp204Ala)
3g.185519288_185519289delinsTCCA1426522536LIPHc.739_740delinsGA (p.Asp247=)
c.637_638delinsGA (p.Asp213=)
c.111_112delinsGA
c.649_650delinsGA (p.Asp217=)
c.610_611delinsGA (p.Asp204=)
3g.185519289delCA2740506LIPHc.739del (p.Asp247ThrfsTer13)
c.637del (p.Asp213ThrfsTer13)
c.111del
c.649del (p.Asp217ThrfsTer13)
c.610del (p.Asp204ThrfsTer13)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.185519289C>ACA355688722LIPHc.739G>T (p.Asp247Tyr)
c.637G>T (p.Asp213Tyr)
c.111G>T
c.649G>T (p.Asp217Tyr)
c.610G>T (p.Asp204Tyr)
 COSMIC
3g.185519289C>GCA355688724LIPHc.739G>C (p.Asp247His)
c.637G>C (p.Asp213His)
c.111G>C
c.649G>C (p.Asp217His)
c.610G>C (p.Asp204His)
3g.185519289C>TCA355688726LIPHc.739G>A (p.Asp247Asn)
c.637G>A (p.Asp213Asn)
c.111G>A
c.649G>A (p.Asp217Asn)
c.610G>A (p.Asp204Asn)
 gnomAD v4
3g.185519290A>CCA355688730LIPHc.738T>G (p.Cys246Trp)
c.636T>G (p.Cys212Trp)
c.110T>G
c.648T>G (p.Cys216Trp)
c.609T>G (p.Cys203Trp)
3g.185519290A>GCA437347368LIPHc.738T>C (p.Cys246=)
c.636T>C (p.Cys212=)
c.110T>C
c.648T>C (p.Cys216=)
c.609T>C (p.Cys203=)
3g.185519290A>TCA355688729LIPHc.738T>A (p.Cys246Ter)
c.636T>A (p.Cys212Ter)
c.110T>A
c.648T>A (p.Cys216Ter)
c.609T>A (p.Cys203Ter)
3g.185519291C>ACA355688732LIPHc.737G>T (p.Cys246Phe)
c.635G>T (p.Cys212Phe)
c.109G>T
c.647G>T (p.Cys216Phe)
c.608G>T (p.Cys203Phe)
3g.185519291C>GCA355688734LIPHc.737G>C (p.Cys246Ser)
c.635G>C (p.Cys212Ser)
c.109G>C
c.647G>C (p.Cys216Ser)
c.608G>C (p.Cys203Ser)
3g.185519291C>TCA355688736LIPHc.737G>A (p.Cys246Tyr)
c.635G>A (p.Cys212Tyr)
c.109G>A
c.647G>A (p.Cys216Tyr)
c.608G>A (p.Cys203Tyr)
3g.185519292A=CA1426522537LIPHc.736T= (p.Cys246=)
c.634T= (p.Cys212=)
c.108T=
c.646T= (p.Cys216=)
c.607T= (p.Cys203=)
3g.185519292A>CCA355688738LIPHc.736T>G (p.Cys246Gly)
c.634T>G (p.Cys212Gly)
c.108T>G
c.646T>G (p.Cys216Gly)
c.607T>G (p.Cys203Gly)
3g.185519292A>GCA355688740LIPHc.736T>C (p.Cys246Arg)
c.634T>C (p.Cys212Arg)
c.108T>C
c.646T>C (p.Cys216Arg)
c.607T>C (p.Cys203Arg)
 gnomAD v4
3g.185519292A>TCA2740507LIPHc.736T>A (p.Cys246Ser)
c.634T>A (p.Cys212Ser)
c.108T>A
c.646T>A (p.Cys216Ser)
c.607T>A (p.Cys203Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.185519293T>ACA355688743LIPHc.735A>T (p.Lys245Asn)
c.633A>T (p.Lys211Asn)
c.107A>T
c.645A>T (p.Lys215Asn)
c.606A>T (p.Lys202Asn)
3g.185519293T>CCA437347369LIPHc.735A>G (p.Lys245=)
c.633A>G (p.Lys211=)
c.107A>G
c.645A>G (p.Lys215=)
c.606A>G (p.Lys202=)
 gnomAD v4
3g.185519293T>GCA355688745LIPHc.735A>C (p.Lys245Asn)
c.633A>C (p.Lys211Asn)
c.107A>C
c.645A>C (p.Lys215Asn)
c.606A>C (p.Lys202Asn)
3g.185519294T>ACA355688746LIPHc.734A>T (p.Lys245Ile)
c.632A>T (p.Lys211Ile)
c.106A>T
c.644A>T (p.Lys215Ile)
c.605A>T (p.Lys202Ile)
3g.185519294T>CCA355688748LIPHc.734A>G (p.Lys245Arg)
c.632A>G (p.Lys211Arg)
c.106A>G
c.644A>G (p.Lys215Arg)
c.605A>G (p.Lys202Arg)
3g.185519294T>GCA355688751LIPHc.734A>C (p.Lys245Thr)
c.632A>C (p.Lys211Thr)
c.106A>C
c.644A>C (p.Lys215Thr)
c.605A>C (p.Lys202Thr)
3g.185519295T>ACA355688757LIPHc.733A>T (p.Lys245Ter)
c.631A>T (p.Lys211Ter)
c.105A>T
c.643A>T (p.Lys215Ter)
c.604A>T (p.Lys202Ter)
3g.185519295T>CCA355688755LIPHc.733A>G (p.Lys245Glu)
c.631A>G (p.Lys211Glu)
c.105A>G
c.643A>G (p.Lys215Glu)
c.604A>G (p.Lys202Glu)
3g.185519295T>GCA355688754LIPHc.733A>C (p.Lys245Gln)
c.631A>C (p.Lys211Gln)
c.105A>C
c.643A>C (p.Lys215Gln)
c.604A>C (p.Lys202Gln)
3g.185519297_185519301delCA2668901445LIPHc.729_733del (p.Tyr243Ter)
c.627_631del (p.Tyr209Ter)
c.101_105del
c.639_643del (p.Tyr213Ter)
c.600_604del (p.Tyr200Ter)
 gnomAD v4
3g.185519296A>CCA355688760LIPHc.732T>G (p.Phe244Leu)
c.630T>G (p.Phe210Leu)
c.104T>G
c.642T>G (p.Phe214Leu)
c.603T>G (p.Phe201Leu)
3g.185519296A>GCA437347370LIPHc.732T>C (p.Phe244=)
c.630T>C (p.Phe210=)
c.104T>C
c.642T>C (p.Phe214=)
c.603T>C (p.Phe201=)
3g.185519296A>TCA355688762LIPHc.732T>A (p.Phe244Leu)
c.630T>A (p.Phe210Leu)
c.104T>A
c.642T>A (p.Phe214Leu)
c.603T>A (p.Phe201Leu)

Number of alleles fetched