Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51914501A>CCA384900076ACVRL1c.418A>C (p.Ile140Leu)
c.688A>C (p.Ile230Leu)
c.166A>C (p.Ile56Leu)
c.730A>C (p.Ile244Leu)
c.-102A>C (n.-102A>C)
12g.51914501A>GCA384900077ACVRL1c.418A>G (p.Ile140Val)
c.688A>G (p.Ile230Val)
c.166A>G (p.Ile56Val)
c.730A>G (p.Ile244Val)
c.-102A>G (n.-102A>G)
12g.51914501A>TCA384900078ACVRL1c.418A>T (p.Ile140Phe)
c.688A>T (p.Ile230Phe)
c.166A>T (p.Ile56Phe)
c.730A>T (p.Ile244Phe)
c.-102A>T (n.-102A>T)
 ClinVar
12g.51914502T>ACA384900079ACVRL1c.419T>A (p.Ile140Asn)
c.689T>A (p.Ile230Asn)
c.167T>A (p.Ile56Asn)
c.731T>A (p.Ile244Asn)
c.-101T>A (n.-101T>A)
12g.51914502T>CCA384900080ACVRL1c.419T>C (p.Ile140Thr)
c.689T>C (p.Ile230Thr)
c.167T>C (p.Ile56Thr)
c.731T>C (p.Ile244Thr)
c.-101T>C (n.-101T>C)
12g.51914502T>GCA384900081ACVRL1c.419T>G (p.Ile140Ser)
c.689T>G (p.Ile230Ser)
c.167T>G (p.Ile56Ser)
c.731T>G (p.Ile244Ser)
c.-101T>G (n.-101T>G)
12g.51914505_51914507delCA2580615205ACVRL1c.422_424del (p.Phe141del)
c.692_694del (p.Phe231del)
c.170_172del (p.Phe57del)
c.734_736del (p.Phe245del)
c.-98_-96del (n.-98_-96del)
 ClinVar
12g.51914503C>ACA479807872ACVRL1c.420C>A (p.Ile140=)
c.690C>A (p.Ile230=)
c.168C>A (p.Ile56=)
c.732C>A (p.Ile244=)
c.-100C>A (n.-100C>A)
12g.51914503C>GCA384900082ACVRL1c.420C>G (p.Ile140Met)
c.690C>G (p.Ile230Met)
c.168C>G (p.Ile56Met)
c.732C>G (p.Ile244Met)
c.-100C>G (n.-100C>G)
12g.51914503C>TCA479807879ACVRL1c.420C>T (p.Ile140=)
c.690C>T (p.Ile230=)
c.168C>T (p.Ile56=)
c.732C>T (p.Ile244=)
c.-100C>T (n.-100C>T)
 gnomAD v4
12g.51914504T>ACA384900083ACVRL1c.421T>A (p.Phe141Ile)
c.691T>A (p.Phe231Ile)
c.169T>A (p.Phe57Ile)
c.733T>A (p.Phe245Ile)
c.-99T>A (n.-99T>A)
12g.51914504T>CCA384900084ACVRL1c.421T>C (p.Phe141Leu)
c.691T>C (p.Phe231Leu)
c.169T>C (p.Phe57Leu)
c.733T>C (p.Phe245Leu)
c.-99T>C (n.-99T>C)
12g.51914504T>GCA384900085ACVRL1c.421T>G (p.Phe141Val)
c.691T>G (p.Phe231Val)
c.169T>G (p.Phe57Val)
c.733T>G (p.Phe245Val)
c.-99T>G (n.-99T>G)
12g.51914505T>ACA384900086ACVRL1c.422T>A (p.Phe141Tyr)
c.692T>A (p.Phe231Tyr)
c.170T>A (p.Phe57Tyr)
c.734T>A (p.Phe245Tyr)
c.-98T>A (n.-98T>A)
12g.51914505T>CCA384900087ACVRL1c.422T>C (p.Phe141Ser)
c.692T>C (p.Phe231Ser)
c.170T>C (p.Phe57Ser)
c.734T>C (p.Phe245Ser)
c.-98T>C (n.-98T>C)
12g.51914505T>GCA384900088ACVRL1c.422T>G (p.Phe141Cys)
c.692T>G (p.Phe231Cys)
c.170T>G (p.Phe57Cys)
c.734T>G (p.Phe245Cys)
c.-98T>G (n.-98T>G)
12g.51914505_51914508delinsTCTCCA2036269070ACVRL1c.422_425delinsTCTC (p.Phe141=)
c.692_695delinsTCTC (p.Phe231=)
c.170_173delinsTCTC (p.Phe57=)
c.734_737delinsTCTC (p.Phe245=)
c.-98_-95delinsTCTC (n.-98_-95delinsTCTC)
12g.51914506C>ACA384900090ACVRL1c.423C>A (p.Phe141Leu)
c.693C>A (p.Phe231Leu)
c.171C>A (p.Phe57Leu)
c.735C>A (p.Phe245Leu)
c.-97C>A (n.-97C>A)
 dbSNP
12g.51914506C>GCA384900089ACVRL1c.423C>G (p.Phe141Leu)
c.693C>G (p.Phe231Leu)
c.171C>G (p.Phe57Leu)
c.735C>G (p.Phe245Leu)
c.-97C>G (n.-97C>G)
12g.51914506C>TCA479807897ACVRL1c.423C>T (p.Phe141=)
c.693C>T (p.Phe231=)
c.171C>T (p.Phe57=)
c.735C>T (p.Phe245=)
c.-97C>T (n.-97C>T)
12g.51914509_51914511delCA254369ACVRL1c.426_428del (p.Ser143del)
c.696_698del (p.Ser233del)
c.174_176del (p.Ser59del)
c.738_740del (p.Ser247del)
c.-94_-92del (n.-94_-92del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51914507T>ACA384900091ACVRL1c.424T>A (p.Ser142Thr)
c.694T>A (p.Ser232Thr)
c.172T>A (p.Ser58Thr)
c.736T>A (p.Ser246Thr)
c.-96T>A (n.-96T>A)
12g.51914507T>CCA384900092ACVRL1c.424T>C (p.Ser142Pro)
c.694T>C (p.Ser232Pro)
c.172T>C (p.Ser58Pro)
c.736T>C (p.Ser246Pro)
c.-96T>C (n.-96T>C)
12g.51914507T>GCA384900093ACVRL1c.424T>G (p.Ser142Ala)
c.694T>G (p.Ser232Ala)
c.172T>G (p.Ser58Ala)
c.736T>G (p.Ser246Ala)
c.-96T>G (n.-96T>G)
12g.51914508C>ACA384900094ACVRL1c.425C>A (p.Ser142Tyr)
c.695C>A (p.Ser232Tyr)
c.173C>A (p.Ser58Tyr)
c.737C>A (p.Ser246Tyr)
c.-95C>A (n.-95C>A)
12g.51914508C=CA2036269078ACVRL1c.425C= (p.Ser142=)
c.695C= (p.Ser232=)
c.173C= (p.Ser58=)
c.737C= (p.Ser246=)
c.-95C= (n.-95C=)
12g.51914508C>GCA384900095ACVRL1c.425C>G (p.Ser142Cys)
c.695C>G (p.Ser232Cys)
c.173C>G (p.Ser58Cys)
c.737C>G (p.Ser246Cys)
c.-95C>G (n.-95C>G)
12g.51914508C>TCA384900096ACVRL1c.425C>T (p.Ser142Phe)
c.695C>T (p.Ser232Phe)
c.173C>T (p.Ser58Phe)
c.737C>T (p.Ser246Phe)
c.-95C>T (n.-95C>T)
 dbSNP COSMIC COSMIC
12g.51914509C>ACA479807908ACVRL1c.426C>A (p.Ser142=)
c.696C>A (p.Ser232=)
c.174C>A (p.Ser58=)
c.738C>A (p.Ser246=)
c.-94C>A (n.-94C>A)
12g.51914509C=CA2036269081ACVRL1c.426C= (p.Ser142=)
c.696C= (p.Ser232=)
c.174C= (p.Ser58=)
c.738C= (p.Ser246=)
c.-94C= (n.-94C=)
12g.51914509C>GCA479807910ACVRL1c.426C>G (p.Ser142=)
c.696C>G (p.Ser232=)
c.174C>G (p.Ser58=)
c.738C>G (p.Ser246=)
c.-94C>G (n.-94C>G)
12g.51914509C>TCA479807911ACVRL1c.426C>T (p.Ser142=)
c.696C>T (p.Ser232=)
c.174C>T (p.Ser58=)
c.738C>T (p.Ser246=)
c.-94C>T (n.-94C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51914510T>ACA384900097ACVRL1c.427T>A (p.Ser143Thr)
c.697T>A (p.Ser233Thr)
c.175T>A (p.Ser59Thr)
c.739T>A (p.Ser247Thr)
c.-93T>A (n.-93T>A)
12g.51914510T>CCA384900098ACVRL1c.427T>C (p.Ser143Pro)
c.697T>C (p.Ser233Pro)
c.175T>C (p.Ser59Pro)
c.739T>C (p.Ser247Pro)
c.-93T>C (n.-93T>C)
12g.51914510T>GCA384900099ACVRL1c.427T>G (p.Ser143Ala)
c.697T>G (p.Ser233Ala)
c.175T>G (p.Ser59Ala)
c.739T>G (p.Ser247Ala)
c.-93T>G (n.-93T>G)
12g.51914511C>ACA384900100ACVRL1c.428C>A (p.Ser143Ter)
c.698C>A (p.Ser233Ter)
c.176C>A (p.Ser59Ter)
c.740C>A (p.Ser247Ter)
c.-92C>A (n.-92C>A)
12g.51914511C=CA2036269086ACVRL1c.428C= (p.Ser143=)
c.698C= (p.Ser233=)
c.176C= (p.Ser59=)
c.740C= (p.Ser247=)
c.-92C= (n.-92C=)
12g.51914511C>GCA384900101ACVRL1c.428C>G (p.Ser143Trp)
c.698C>G (p.Ser233Trp)
c.176C>G (p.Ser59Trp)
c.740C>G (p.Ser247Trp)
c.-92C>G (n.-92C>G)
 ClinVar dbSNP
12g.51914511C>TCA6572972ACVRL1c.428C>T (p.Ser143Leu)
c.698C>T (p.Ser233Leu)
c.176C>T (p.Ser59Leu)
c.740C>T (p.Ser247Leu)
c.-92C>T (n.-92C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.51914511_51914512dupCA2573148781ACVRL1c.428_429dup (p.Asp145GlyfsTer24)
c.698_699dup (p.Asp235GlyfsTer24)
c.176_177dup (p.Asp61GlyfsTer24)
c.428_429dup (p.Asp145GlyfsTer?)
c.740_741dup (p.Asp249GlyfsTer24)
c.-92_-91dup (n.-92_-91dup)
 ClinVar dbSNP
12g.51914512G>ACA6572973ACVRL1c.429G>A (p.Ser143=)
c.699G>A (p.Ser233=)
c.177G>A (p.Ser59=)
c.741G>A (p.Ser247=)
c.-91G>A (n.-91G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51914512G>CCA479807925ACVRL1c.429G>C (p.Ser143=)
c.699G>C (p.Ser233=)
c.177G>C (p.Ser59=)
c.741G>C (p.Ser247=)
c.-91G>C (n.-91G>C)
12g.51914512G=CA2036269089ACVRL1c.429G= (p.Ser143=)
c.699G= (p.Ser233=)
c.177G= (p.Ser59=)
c.741G= (p.Ser247=)
c.-91G= (n.-91G=)
12g.51914512G>TCA479807927ACVRL1c.429G>T (p.Ser143=)
c.699G>T (p.Ser233=)
c.177G>T (p.Ser59=)
c.741G>T (p.Ser247=)
c.-91G>T (n.-91G>T)
 gnomAD v4
12g.51914513A>CCA479807931ACVRL1c.430A>C (p.Arg144=)
c.700A>C (p.Arg234=)
c.178A>C (p.Arg60=)
c.742A>C (p.Arg248=)
c.-90A>C (n.-90A>C)
12g.51914513A>GCA384900102ACVRL1c.430A>G (p.Arg144Gly)
c.700A>G (p.Arg234Gly)
c.178A>G (p.Arg60Gly)
c.742A>G (p.Arg248Gly)
c.-90A>G (n.-90A>G)
12g.51914513A>TCA384900103ACVRL1c.430A>T (p.Arg144Trp)
c.700A>T (p.Arg234Trp)
c.178A>T (p.Arg60Trp)
c.742A>T (p.Arg248Trp)
c.-90A>T (n.-90A>T)
12g.51914514G>ACA384900104ACVRL1c.431G>A (p.Arg144Lys)
c.701G>A (p.Arg234Lys)
c.179G>A (p.Arg60Lys)
c.743G>A (p.Arg248Lys)
c.-89G>A (n.-89G>A)
12g.51914514G>CCA384900106ACVRL1c.431G>C (p.Arg144Thr)
c.701G>C (p.Arg234Thr)
c.179G>C (p.Arg60Thr)
c.743G>C (p.Arg248Thr)
c.-89G>C (n.-89G>C)
 gnomAD v4
12g.51914514G>TCA384900105ACVRL1c.431G>T (p.Arg144Met)
c.701G>T (p.Arg234Met)
c.179G>T (p.Arg60Met)
c.743G>T (p.Arg248Met)
c.-89G>T (n.-89G>T)
12g.51914516delCA2580086471ACVRL1c.433del (p.Asp145MetfsTer23)
c.703del (p.Asp235MetfsTer23)
c.181del (p.Asp61MetfsTer23)
c.433del (p.Asp145MetfsTer?)
c.745del (p.Asp249MetfsTer23)
c.-87del (n.-87del)
 ClinVar
12g.51914515G>ACA479807939ACVRL1c.432G>A (p.Arg144=)
c.702G>A (p.Arg234=)
c.180G>A (p.Arg60=)
c.744G>A (p.Arg248=)
c.-88G>A (n.-88G>A)
12g.51914515G>CCA384900108ACVRL1c.432G>C (p.Arg144Ser)
c.702G>C (p.Arg234Ser)
c.180G>C (p.Arg60Ser)
c.744G>C (p.Arg248Ser)
c.-88G>C (n.-88G>C)
12g.51914515G>TCA384900109ACVRL1c.432G>T (p.Arg144Ser)
c.702G>T (p.Arg234Ser)
c.180G>T (p.Arg60Ser)
c.744G>T (p.Arg248Ser)
c.-88G>T (n.-88G>T)
12g.51914516G>ACA384900110ACVRL1c.433G>A (p.Asp145Asn)
c.703G>A (p.Asp235Asn)
c.181G>A (p.Asp61Asn)
c.745G>A (p.Asp249Asn)
c.-87G>A (n.-87G>A)
12g.51914516G>CCA384900111ACVRL1c.433G>C (p.Asp145His)
c.703G>C (p.Asp235His)
c.181G>C (p.Asp61His)
c.745G>C (p.Asp249His)
c.-87G>C (n.-87G>C)
12g.51914516G>TCA384900112ACVRL1c.433G>T (p.Asp145Tyr)
c.703G>T (p.Asp235Tyr)
c.181G>T (p.Asp61Tyr)
c.745G>T (p.Asp249Tyr)
c.-87G>T (n.-87G>T)
12g.51914517delCA2695216736ACVRL1c.434del (p.Asp145ValfsTer23)
c.704del (p.Asp235ValfsTer23)
c.182del (p.Asp61ValfsTer23)
c.434del (p.Asp145ValfsTer?)
c.746del (p.Asp249ValfsTer23)
c.-86del (n.-86del)
12g.51914517A>CCA384900113ACVRL1c.434A>C (p.Asp145Ala)
c.704A>C (p.Asp235Ala)
c.182A>C (p.Asp61Ala)
c.746A>C (p.Asp249Ala)
c.-86A>C (n.-86A>C)
12g.51914517A>GCA384900114ACVRL1c.434A>G (p.Asp145Gly)
c.704A>G (p.Asp235Gly)
c.182A>G (p.Asp61Gly)
c.746A>G (p.Asp249Gly)
c.-86A>G (n.-86A>G)
 ClinVar
12g.51914517A>TCA384900115ACVRL1c.434A>T (p.Asp145Val)
c.704A>T (p.Asp235Val)
c.182A>T (p.Asp61Val)
c.746A>T (p.Asp249Val)
c.-86A>T (n.-86A>T)
12g.51914518T>ACA384900116ACVRL1c.435T>A (p.Asp145Glu)
c.705T>A (p.Asp235Glu)
c.183T>A (p.Asp61Glu)
c.747T>A (p.Asp249Glu)
c.-85T>A (n.-85T>A)
12g.51914518T>CCA236363417ACVRL1c.435T>C (p.Asp145=)
c.705T>C (p.Asp235=)
c.183T>C (p.Asp61=)
c.747T>C (p.Asp249=)
c.-85T>C (n.-85T>C)
 dbSNP
12g.51914518T>GCA384900117ACVRL1c.435T>G (p.Asp145Glu)
c.705T>G (p.Asp235Glu)
c.183T>G (p.Asp61Glu)
c.747T>G (p.Asp249Glu)
c.-85T>G (n.-85T>G)
12g.51914518T=CA2036269092ACVRL1c.435T= (p.Asp145=)
c.705T= (p.Asp235=)
c.183T= (p.Asp61=)
c.747T= (p.Asp249=)
c.-85T= (n.-85T=)
12g.51914519G>ACA384900118ACVRL1c.436G>A (p.Glu146Lys)
c.706G>A (p.Glu236Lys)
c.184G>A (p.Glu62Lys)
c.748G>A (p.Glu250Lys)
c.-84G>A (n.-84G>A)
 ClinVar dbSNP COSMIC COSMIC
12g.51914519G>CCA384900119ACVRL1c.436G>C (p.Glu146Gln)
c.706G>C (p.Glu236Gln)
c.184G>C (p.Glu62Gln)
c.748G>C (p.Glu250Gln)
c.-84G>C (n.-84G>C)
12g.51914519G=CA2036269097ACVRL1c.436G= (p.Glu146=)
c.706G= (p.Glu236=)
c.184G= (p.Glu62=)
c.748G= (p.Glu250=)
c.-84G= (n.-84G=)
12g.51914519G>TCA384900120ACVRL1c.436G>T (p.Glu146Ter)
c.706G>T (p.Glu236Ter)
c.184G>T (p.Glu62Ter)
c.748G>T (p.Glu250Ter)
c.-84G>T (n.-84G>T)
12g.51914520A>CCA384900121ACVRL1c.437A>C (p.Glu146Ala)
c.707A>C (p.Glu236Ala)
c.185A>C (p.Glu62Ala)
c.749A>C (p.Glu250Ala)
c.-83A>C (n.-83A>C)
12g.51914520A>GCA384900122ACVRL1c.437A>G (p.Glu146Gly)
c.707A>G (p.Glu236Gly)
c.185A>G (p.Glu62Gly)
c.749A>G (p.Glu250Gly)
c.-83A>G (n.-83A>G)
12g.51914520A>TCA384900123ACVRL1c.437A>T (p.Glu146Val)
c.707A>T (p.Glu236Val)
c.185A>T (p.Glu62Val)
c.749A>T (p.Glu250Val)
c.-83A>T (n.-83A>T)
12g.51914521A>CCA384900124ACVRL1c.438A>C (p.Glu146Asp)
c.708A>C (p.Glu236Asp)
c.186A>C (p.Glu62Asp)
c.750A>C (p.Glu250Asp)
c.-82A>C (n.-82A>C)
12g.51914521A>GCA479807970ACVRL1c.438A>G (p.Glu146=)
c.708A>G (p.Glu236=)
c.186A>G (p.Glu62=)
c.750A>G (p.Glu250=)
c.-82A>G (n.-82A>G)
12g.51914521A>TCA384900125ACVRL1c.438A>T (p.Glu146Asp)
c.708A>T (p.Glu236Asp)
c.186A>T (p.Glu62Asp)
c.750A>T (p.Glu250Asp)
c.-82A>T (n.-82A>T)
12g.51914522C>ACA384900126ACVRL1c.439C>A (p.Gln147Lys)
c.709C>A (p.Gln237Lys)
c.187C>A (p.Gln63Lys)
c.751C>A (p.Gln251Lys)
c.-81C>A (n.-81C>A)
12g.51914522C>GCA384900127ACVRL1c.439C>G (p.Gln147Glu)
c.709C>G (p.Gln237Glu)
c.187C>G (p.Gln63Glu)
c.751C>G (p.Gln251Glu)
c.-81C>G (n.-81C>G)
12g.51914522C>TCA384900128ACVRL1c.439C>T (p.Gln147Ter)
c.709C>T (p.Gln237Ter)
c.187C>T (p.Gln63Ter)
c.751C>T (p.Gln251Ter)
c.-81C>T (n.-81C>T)
12g.51914523A>CCA384900129ACVRL1c.440A>C (p.Gln147Pro)
c.710A>C (p.Gln237Pro)
c.188A>C (p.Gln63Pro)
c.752A>C (p.Gln251Pro)
c.-80A>C (n.-80A>C)
 gnomAD v4
12g.51914523A>GCA384900130ACVRL1c.440A>G (p.Gln147Arg)
c.710A>G (p.Gln237Arg)
c.188A>G (p.Gln63Arg)
c.752A>G (p.Gln251Arg)
c.-80A>G (n.-80A>G)
12g.51914523A>TCA384900131ACVRL1c.440A>T (p.Gln147Leu)
c.710A>T (p.Gln237Leu)
c.188A>T (p.Gln63Leu)
c.752A>T (p.Gln251Leu)
c.-80A>T (n.-80A>T)
12g.51914523_51914526delinsAGTCCA2036269103ACVRL1c.440_443delinsAGTC (p.Gln147=)
c.710_713delinsAGTC (p.Gln237=)
c.188_191delinsAGTC (p.Gln63=)
c.752_755delinsAGTC (p.Gln251=)
c.-80_-77delinsAGTC (n.-80_-77delinsAGTC)
12g.51914524G>ACA479807982ACVRL1c.441G>A (p.Gln147=)
c.711G>A (p.Gln237=)
c.189G>A (p.Gln63=)
c.753G>A (p.Gln251=)
c.-79G>A (n.-79G>A)
12g.51914524G>CCA6572974ACVRL1c.441G>C (p.Gln147His)
c.711G>C (p.Gln237His)
c.189G>C (p.Gln63His)
c.753G>C (p.Gln251His)
c.-79G>C (n.-79G>C)
 dbSNP ExAC gnomAD v2
12g.51914524G=CA2036269104ACVRL1c.441G= (p.Gln147=)
c.711G= (p.Gln237=)
c.189G= (p.Gln63=)
c.753G= (p.Gln251=)
c.-79G= (n.-79G=)
12g.51914524G>TCA384900132ACVRL1c.441G>T (p.Gln147His)
c.711G>T (p.Gln237His)
c.189G>T (p.Gln63His)
c.753G>T (p.Gln251His)
c.-79G>T (n.-79G>T)
12g.51914524_51914526delinsAGCA658656305ACVRL1c.441_443delinsAG (p.Ser148AlafsTer20)
c.711_713delinsAG (p.Ser238AlafsTer20)
c.189_191delinsAG (p.Ser64AlafsTer20)
c.441_443delinsAG (p.Ser148AlafsTer?)
c.753_755delinsAG (p.Ser252AlafsTer20)
c.-79_-77delinsAG (n.-79_-77delinsAG)
 ClinVar dbSNP
12g.51914525T>ACA384900133ACVRL1c.442T>A (p.Ser148Thr)
c.712T>A (p.Ser238Thr)
c.190T>A (p.Ser64Thr)
c.754T>A (p.Ser252Thr)
c.-78T>A (n.-78T>A)
12g.51914525T>CCA384900134ACVRL1c.442T>C (p.Ser148Pro)
c.712T>C (p.Ser238Pro)
c.190T>C (p.Ser64Pro)
c.754T>C (p.Ser252Pro)
c.-78T>C (n.-78T>C)
12g.51914525T>GCA384900135ACVRL1c.442T>G (p.Ser148Ala)
c.712T>G (p.Ser238Ala)
c.190T>G (p.Ser64Ala)
c.754T>G (p.Ser252Ala)
c.-78T>G (n.-78T>G)
12g.51914525_51914526delinsTCCA2036269105ACVRL1c.442_443delinsTC (p.Ser148=)
c.712_713delinsTC (p.Ser238=)
c.190_191delinsTC (p.Ser64=)
c.754_755delinsTC (p.Ser252=)
c.-78_-77delinsTC (n.-78_-77delinsTC)
12g.51914526C>ACA384900137ACVRL1c.443C>A (p.Ser148Tyr)
c.713C>A (p.Ser238Tyr)
c.191C>A (p.Ser64Tyr)
c.755C>A (p.Ser252Tyr)
c.-77C>A (n.-77C>A)
12g.51914526C=CA2036269106ACVRL1c.443C= (p.Ser148=)
c.713C= (p.Ser238=)
c.191C= (p.Ser64=)
c.755C= (p.Ser252=)
c.-77C= (n.-77C=)
12g.51914526C>GCA384900136ACVRL1c.443C>G (p.Ser148Cys)
c.713C>G (p.Ser238Cys)
c.191C>G (p.Ser64Cys)
c.755C>G (p.Ser252Cys)
c.-77C>G (n.-77C>G)
12g.51914526C>TCA6572975ACVRL1c.443C>T (p.Ser148Phe)
c.713C>T (p.Ser238Phe)
c.191C>T (p.Ser64Phe)
c.755C>T (p.Ser252Phe)
c.-77C>T (n.-77C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51914527delCA916081668ACVRL1c.444del (p.Trp149GlyfsTer19)
c.714del (p.Trp239GlyfsTer19)
c.192del (p.Trp65GlyfsTer19)
c.444del (p.Trp149GlyfsTer?)
c.756del (p.Trp253GlyfsTer19)
c.-76del (n.-76del)
 ClinVar dbSNP
12g.51914527C>ACA479807997ACVRL1c.444C>A (p.Ser148=)
c.714C>A (p.Ser238=)
c.192C>A (p.Ser64=)
c.756C>A (p.Ser252=)
c.-76C>A (n.-76C>A)
12g.51914527C>GCA479808001ACVRL1c.444C>G (p.Ser148=)
c.714C>G (p.Ser238=)
c.192C>G (p.Ser64=)
c.756C>G (p.Ser252=)
c.-76C>G (n.-76C>G)
12g.51914527C>TCA479807999ACVRL1c.444C>T (p.Ser148=)
c.714C>T (p.Ser238=)
c.192C>T (p.Ser64=)
c.756C>T (p.Ser252=)
c.-76C>T (n.-76C>T)
12g.51914528T>ACA384900138ACVRL1c.445T>A (p.Trp149Arg)
c.715T>A (p.Trp239Arg)
c.193T>A (p.Trp65Arg)
c.757T>A (p.Trp253Arg)
c.-75T>A (n.-75T>A)
12g.51914528T>CCA384900139ACVRL1c.445T>C (p.Trp149Arg)
c.715T>C (p.Trp239Arg)
c.193T>C (p.Trp65Arg)
c.757T>C (p.Trp253Arg)
c.-75T>C (n.-75T>C)
12g.51914528T>GCA384900140ACVRL1c.445T>G (p.Trp149Gly)
c.715T>G (p.Trp239Gly)
c.193T>G (p.Trp65Gly)
c.757T>G (p.Trp253Gly)
c.-75T>G (n.-75T>G)
12g.51914529G>ACA384900141ACVRL1c.446G>A (p.Trp149Ter)
c.716G>A (p.Trp239Ter)
c.194G>A (p.Trp65Ter)
c.758G>A (p.Trp253Ter)
c.-74G>A (n.-74G>A)
 ClinVar
12g.51914529G>CCA384900142ACVRL1c.446G>C (p.Trp149Ser)
c.716G>C (p.Trp239Ser)
c.194G>C (p.Trp65Ser)
c.758G>C (p.Trp253Ser)
c.-74G>C (n.-74G>C)
12g.51914529G>TCA384900143ACVRL1c.446G>T (p.Trp149Leu)
c.716G>T (p.Trp239Leu)
c.194G>T (p.Trp65Leu)
c.758G>T (p.Trp253Leu)
c.-74G>T (n.-74G>T)
12g.51914530G>ACA384900144ACVRL1c.447G>A (p.Trp149Ter)
c.717G>A (p.Trp239Ter)
c.195G>A (p.Trp65Ter)
c.759G>A (p.Trp253Ter)
c.-73G>A (n.-73G>A)
 ClinVar
12g.51914530G>CCA384900145ACVRL1c.447G>C (p.Trp149Cys)
c.717G>C (p.Trp239Cys)
c.195G>C (p.Trp65Cys)
c.759G>C (p.Trp253Cys)
c.-73G>C (n.-73G>C)
12g.51914530G>TCA384900146ACVRL1c.447G>T (p.Trp149Cys)
c.717G>T (p.Trp239Cys)
c.195G>T (p.Trp65Cys)
c.759G>T (p.Trp253Cys)
c.-73G>T (n.-73G>T)
12g.51914531T>ACA384900147ACVRL1c.448T>A (p.Phe150Ile)
c.718T>A (p.Phe240Ile)
c.196T>A (p.Phe66Ile)
c.760T>A (p.Phe254Ile)
c.-72T>A (n.-72T>A)
12g.51914531T>CCA384900148ACVRL1c.448T>C (p.Phe150Leu)
c.718T>C (p.Phe240Leu)
c.196T>C (p.Phe66Leu)
c.760T>C (p.Phe254Leu)
c.-72T>C (n.-72T>C)
12g.51914531T>GCA384900149ACVRL1c.448T>G (p.Phe150Val)
c.718T>G (p.Phe240Val)
c.196T>G (p.Phe66Val)
c.760T>G (p.Phe254Val)
c.-72T>G (n.-72T>G)
12g.51914532T>ACA384900152ACVRL1c.449T>A (p.Phe150Tyr)
c.719T>A (p.Phe240Tyr)
c.197T>A (p.Phe66Tyr)
c.761T>A (p.Phe254Tyr)
c.-71T>A (n.-71T>A)
12g.51914532T>CCA384900151ACVRL1c.449T>C (p.Phe150Ser)
c.719T>C (p.Phe240Ser)
c.197T>C (p.Phe66Ser)
c.761T>C (p.Phe254Ser)
c.-71T>C (n.-71T>C)
12g.51914532T>GCA384900150ACVRL1c.449T>G (p.Phe150Cys)
c.719T>G (p.Phe240Cys)
c.197T>G (p.Phe66Cys)
c.761T>G (p.Phe254Cys)
c.-71T>G (n.-71T>G)
12g.51914533C>ACA384900153ACVRL1c.450C>A (p.Phe150Leu)
c.720C>A (p.Phe240Leu)
c.198C>A (p.Phe66Leu)
c.762C>A (p.Phe254Leu)
c.-70C>A (n.-70C>A)
12g.51914533C=CA2036269107ACVRL1c.450C= (p.Phe150=)
c.720C= (p.Phe240=)
c.198C= (p.Phe66=)
c.762C= (p.Phe254=)
c.-70C= (n.-70C=)
12g.51914533C>GCA384900154ACVRL1c.450C>G (p.Phe150Leu)
c.720C>G (p.Phe240Leu)
c.198C>G (p.Phe66Leu)
c.762C>G (p.Phe254Leu)
c.-70C>G (n.-70C>G)
12g.51914533C>TCA479808023ACVRL1c.450C>T (p.Phe150=)
c.720C>T (p.Phe240=)
c.198C>T (p.Phe66=)
c.762C>T (p.Phe254=)
c.-70C>T (n.-70C>T)
 dbSNP gnomAD v2 gnomAD v4
12g.51914534C>ACA479808024ACVRL1c.451C>A (p.Arg151=)
c.721C>A (p.Arg241=)
c.199C>A (p.Arg67=)
c.763C>A (p.Arg255=)
c.-69C>A (n.-69C>A)
12g.51914534C=CA2036269108ACVRL1c.451C= (p.Arg151=)
c.721C= (p.Arg241=)
c.199C= (p.Arg67=)
c.763C= (p.Arg255=)
c.-69C= (n.-69C=)
12g.51914534C>GCA384900155ACVRL1c.451C>G (p.Arg151Gly)
c.721C>G (p.Arg241Gly)
c.199C>G (p.Arg67Gly)
c.763C>G (p.Arg255Gly)
c.-69C>G (n.-69C>G)
12g.51914534C>TCA6572976ACVRL1c.451C>T (p.Arg151Trp)
c.721C>T (p.Arg241Trp)
c.199C>T (p.Arg67Trp)
c.763C>T (p.Arg255Trp)
c.-69C>T (n.-69C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51914535G>ACA6572977ACVRL1c.452G>A (p.Arg151Gln)
c.722G>A (p.Arg241Gln)
c.200G>A (p.Arg67Gln)
c.764G>A (p.Arg255Gln)
c.-68G>A (n.-68G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51914535G>CCA384900156ACVRL1c.452G>C (p.Arg151Pro)
c.722G>C (p.Arg241Pro)
c.200G>C (p.Arg67Pro)
c.764G>C (p.Arg255Pro)
c.-68G>C (n.-68G>C)
12g.51914535G=CA2036269109ACVRL1c.452G= (p.Arg151=)
c.722G= (p.Arg241=)
c.200G= (p.Arg67=)
c.764G= (p.Arg255=)
c.-68G= (n.-68G=)
12g.51914535G>TCA384900157ACVRL1c.452G>T (p.Arg151Leu)
c.722G>T (p.Arg241Leu)
c.200G>T (p.Arg67Leu)
c.764G>T (p.Arg255Leu)
c.-68G>T (n.-68G>T)
 gnomAD v4
12g.51914536G>ACA479808030ACVRL1c.453G>A (p.Arg151=)
c.723G>A (p.Arg241=)
c.201G>A (p.Arg67=)
c.765G>A (p.Arg255=)
c.-67G>A (n.-67G>A)
12g.51914536G>CCA479808031ACVRL1c.453G>C (p.Arg151=)
c.723G>C (p.Arg241=)
c.201G>C (p.Arg67=)
c.765G>C (p.Arg255=)
c.-67G>C (n.-67G>C)
12g.51914536G=CA2036269110ACVRL1c.453G= (p.Arg151=)
c.723G= (p.Arg241=)
c.201G= (p.Arg67=)
c.765G= (p.Arg255=)
c.-67G= (n.-67G=)
12g.51914536G>TCA479808033ACVRL1c.453G>T (p.Arg151=)
c.723G>T (p.Arg241=)
c.201G>T (p.Arg67=)
c.765G>T (p.Arg255=)
c.-67G>T (n.-67G>T)
 dbSNP gnomAD v2 gnomAD v4
12g.51914537G>ACA384900158ACVRL1c.454G>A (p.Glu152Lys)
c.724G>A (p.Glu242Lys)
c.202G>A (p.Glu68Lys)
c.766G>A (p.Glu256Lys)
c.-66G>A (n.-66G>A)
 COSMIC COSMIC
12g.51914537G>CCA384900159ACVRL1c.454G>C (p.Glu152Gln)
c.724G>C (p.Glu242Gln)
c.202G>C (p.Glu68Gln)
c.766G>C (p.Glu256Gln)
c.-66G>C (n.-66G>C)
 gnomAD v4
12g.51914537G=CA2036269111ACVRL1c.454G= (p.Glu152=)
c.724G= (p.Glu242=)
c.202G= (p.Glu68=)
c.766G= (p.Glu256=)
c.-66G= (n.-66G=)
12g.51914537G>TCA384900160ACVRL1c.454G>T (p.Glu152Ter)
c.724G>T (p.Glu242Ter)
c.202G>T (p.Glu68Ter)
c.766G>T (p.Glu256Ter)
c.-66G>T (n.-66G>T)
 ClinVar dbSNP
12g.51914538A>CCA384900161ACVRL1c.455A>C (p.Glu152Ala)
c.725A>C (p.Glu242Ala)
c.203A>C (p.Glu68Ala)
c.767A>C (p.Glu256Ala)
c.-65A>C (n.-65A>C)
12g.51914538A>GCA384900162ACVRL1c.455A>G (p.Glu152Gly)
c.725A>G (p.Glu242Gly)
c.203A>G (p.Glu68Gly)
c.767A>G (p.Glu256Gly)
c.-65A>G (n.-65A>G)
12g.51914538A>TCA384900163ACVRL1c.455A>T (p.Glu152Val)
c.725A>T (p.Glu242Val)
c.203A>T (p.Glu68Val)
c.767A>T (p.Glu256Val)
c.-65A>T (n.-65A>T)
12g.51914539delCA2580086472ACVRL1c.456del (p.Thr153LeufsTer15)
c.726del (p.Thr243LeufsTer15)
c.204del (p.Thr69LeufsTer15)
c.456del (p.Thr153LeufsTer?)
c.768del (p.Thr257LeufsTer15)
c.-64del (n.-64del)
 ClinVar
12g.51914539G>ACA479808048ACVRL1c.456G>A (p.Glu152=)
c.726G>A (p.Glu242=)
c.204G>A (p.Glu68=)
c.768G>A (p.Glu256=)
c.-64G>A (n.-64G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.51914539G>CCA384900164ACVRL1c.456G>C (p.Glu152Asp)
c.726G>C (p.Glu242Asp)
c.204G>C (p.Glu68Asp)
c.768G>C (p.Glu256Asp)
c.-64G>C (n.-64G>C)
12g.51914539G=CA2036269112ACVRL1c.456G= (p.Glu152=)
c.726G= (p.Glu242=)
c.204G= (p.Glu68=)
c.768G= (p.Glu256=)
c.-64G= (n.-64G=)
12g.51914539G>TCA384900165ACVRL1c.456G>T (p.Glu152Asp)
c.726G>T (p.Glu242Asp)
c.204G>T (p.Glu68Asp)
c.768G>T (p.Glu256Asp)
c.-64G>T (n.-64G>T)
12g.51914540A>CCA384900166ACVRL1c.457A>C (p.Thr153Pro)
c.727A>C (p.Thr243Pro)
c.205A>C (p.Thr69Pro)
c.769A>C (p.Thr257Pro)
c.-63A>C (n.-63A>C)
12g.51914540A>GCA384900168ACVRL1c.457A>G (p.Thr153Ala)
c.727A>G (p.Thr243Ala)
c.205A>G (p.Thr69Ala)
c.769A>G (p.Thr257Ala)
c.-63A>G (n.-63A>G)
12g.51914540A>TCA384900167ACVRL1c.457A>T (p.Thr153Ser)
c.727A>T (p.Thr243Ser)
c.205A>T (p.Thr69Ser)
c.769A>T (p.Thr257Ser)
c.-63A>T (n.-63A>T)
12g.51914541C>ACA384900169ACVRL1c.458C>A (p.Thr153Asn)
c.728C>A (p.Thr243Asn)
c.206C>A (p.Thr69Asn)
c.770C>A (p.Thr257Asn)
c.-62C>A (n.-62C>A)
12g.51914541C=CA2036269113ACVRL1c.458C= (p.Thr153=)
c.728C= (p.Thr243=)
c.206C= (p.Thr69=)
c.770C= (p.Thr257=)
c.-62C= (n.-62C=)
12g.51914541C>GCA384900170ACVRL1c.458C>G (p.Thr153Ser)
c.728C>G (p.Thr243Ser)
c.206C>G (p.Thr69Ser)
c.770C>G (p.Thr257Ser)
c.-62C>G (n.-62C>G)
12g.51914541C>TCA384900171ACVRL1c.458C>T (p.Thr153Ile)
c.728C>T (p.Thr243Ile)
c.206C>T (p.Thr69Ile)
c.770C>T (p.Thr257Ile)
c.-62C>T (n.-62C>T)
 dbSNP gnomAD v3 gnomAD v4
12g.51914542T>ACA479808056ACVRL1c.459T>A (p.Thr153=)
c.729T>A (p.Thr243=)
c.207T>A (p.Thr69=)
c.771T>A (p.Thr257=)
c.-61T>A (n.-61T>A)
12g.51914542T>CCA479808058ACVRL1c.459T>C (p.Thr153=)
c.729T>C (p.Thr243=)
c.207T>C (p.Thr69=)
c.771T>C (p.Thr257=)
c.-61T>C (n.-61T>C)
 gnomAD v4
12g.51914542T>GCA479808060ACVRL1c.459T>G (p.Thr153=)
c.729T>G (p.Thr243=)
c.207T>G (p.Thr69=)
c.771T>G (p.Thr257=)
c.-61T>G (n.-61T>G)
 gnomAD v4
12g.51914543G>ACA384900172ACVRL1c.460G>A (p.Glu154Lys)
c.730G>A (p.Glu244Lys)
c.208G>A (p.Glu70Lys)
c.772G>A (p.Glu258Lys)
c.-60G>A (n.-60G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.51914543G>CCA384900173ACVRL1c.460G>C (p.Glu154Gln)
c.730G>C (p.Glu244Gln)
c.208G>C (p.Glu70Gln)
c.772G>C (p.Glu258Gln)
c.-60G>C (n.-60G>C)
12g.51914543G=CA2036269114ACVRL1c.460G= (p.Glu154=)
c.730G= (p.Glu244=)
c.208G= (p.Glu70=)
c.772G= (p.Glu258=)
c.-60G= (n.-60G=)
12g.51914543G>TCA384900174ACVRL1c.460G>T (p.Glu154Ter)
c.730G>T (p.Glu244Ter)
c.208G>T (p.Glu70Ter)
c.772G>T (p.Glu258Ter)
c.-60G>T (n.-60G>T)
12g.51914544A>CCA384900175ACVRL1c.461A>C (p.Glu154Ala)
c.731A>C (p.Glu244Ala)
c.209A>C (p.Glu70Ala)
c.773A>C (p.Glu258Ala)
c.-59A>C (n.-59A>C)
12g.51914544A>GCA384900176ACVRL1c.461A>G (p.Glu154Gly)
c.731A>G (p.Glu244Gly)
c.209A>G (p.Glu70Gly)
c.773A>G (p.Glu258Gly)
c.-59A>G (n.-59A>G)
12g.51914544A>TCA384900177ACVRL1c.461A>T (p.Glu154Val)
c.731A>T (p.Glu244Val)
c.209A>T (p.Glu70Val)
c.773A>T (p.Glu258Val)
c.-59A>T (n.-59A>T)
12g.51914545G>ACA479808070ACVRL1c.462G>A (p.Glu154=)
c.732G>A (p.Glu244=)
c.210G>A (p.Glu70=)
c.774G>A (p.Glu258=)
c.-58G>A (n.-58G>A)
12g.51914545G>CCA384900178ACVRL1c.462G>C (p.Glu154Asp)
c.732G>C (p.Glu244Asp)
c.210G>C (p.Glu70Asp)
c.774G>C (p.Glu258Asp)
c.-58G>C (n.-58G>C)
12g.51914545G>TCA384900179ACVRL1c.462G>T (p.Glu154Asp)
c.732G>T (p.Glu244Asp)
c.210G>T (p.Glu70Asp)
c.774G>T (p.Glu258Asp)
c.-58G>T (n.-58G>T)
12g.51914546A>CCA384900182ACVRL1c.463A>C (p.Ile155Leu)
c.733A>C (p.Ile245Leu)
c.211A>C (p.Ile71Leu)
c.775A>C (p.Ile259Leu)
c.-57A>C (n.-57A>C)
12g.51914546A>GCA384900181ACVRL1c.463A>G (p.Ile155Val)
c.733A>G (p.Ile245Val)
c.211A>G (p.Ile71Val)
c.775A>G (p.Ile259Val)
c.-57A>G (n.-57A>G)
12g.51914546A>TCA384900180ACVRL1c.463A>T (p.Ile155Phe)
c.733A>T (p.Ile245Phe)
c.211A>T (p.Ile71Phe)
c.775A>T (p.Ile259Phe)
c.-57A>T (n.-57A>T)
 gnomAD v4
12g.51914547T>ACA236363439ACVRL1c.464T>A (p.Ile155Asn)
c.734T>A (p.Ile245Asn)
c.212T>A (p.Ile71Asn)
c.776T>A (p.Ile259Asn)
c.-56T>A (n.-56T>A)
 dbSNP
12g.51914547T>CCA384900183ACVRL1c.464T>C (p.Ile155Thr)
c.734T>C (p.Ile245Thr)
c.212T>C (p.Ile71Thr)
c.776T>C (p.Ile259Thr)
c.-56T>C (n.-56T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51914547T>GCA384900184ACVRL1c.464T>G (p.Ile155Ser)
c.734T>G (p.Ile245Ser)
c.212T>G (p.Ile71Ser)
c.776T>G (p.Ile259Ser)
c.-56T>G (n.-56T>G)
12g.51914547T=CA2036269115ACVRL1c.464T= (p.Ile155=)
c.734T= (p.Ile245=)
c.212T= (p.Ile71=)
c.776T= (p.Ile259=)
c.-56T= (n.-56T=)
12g.51914548C>ACA479808081ACVRL1c.465C>A (p.Ile155=)
c.735C>A (p.Ile245=)
c.213C>A (p.Ile71=)
c.777C>A (p.Ile259=)
c.-55C>A (n.-55C>A)
12g.51914548C>GCA384900185ACVRL1c.465C>G (p.Ile155Met)
c.735C>G (p.Ile245Met)
c.213C>G (p.Ile71Met)
c.777C>G (p.Ile259Met)
c.-55C>G (n.-55C>G)
12g.51914548C>TCA479808083ACVRL1c.465C>T (p.Ile155=)
c.735C>T (p.Ile245=)
c.213C>T (p.Ile71=)
c.777C>T (p.Ile259=)
c.-55C>T (n.-55C>T)
12g.51914549T>ACA384900186ACVRL1c.466T>A (p.Tyr156Asn)
c.736T>A (p.Tyr246Asn)
c.214T>A (p.Tyr72Asn)
c.778T>A (p.Tyr260Asn)
c.-54T>A (n.-54T>A)
12g.51914549T>CCA384900187ACVRL1c.466T>C (p.Tyr156His)
c.736T>C (p.Tyr246His)
c.214T>C (p.Tyr72His)
c.778T>C (p.Tyr260His)
c.-54T>C (n.-54T>C)
12g.51914549T>GCA384900188ACVRL1c.466T>G (p.Tyr156Asp)
c.736T>G (p.Tyr246Asp)
c.214T>G (p.Tyr72Asp)
c.778T>G (p.Tyr260Asp)
c.-54T>G (n.-54T>G)
12g.51914550A=CA2036269116ACVRL1c.467A= (p.Tyr156=)
c.737A= (p.Tyr246=)
c.215A= (p.Tyr72=)
c.779A= (p.Tyr260=)
c.-53A= (n.-53A=)
12g.51914550A>CCA384900189ACVRL1c.467A>C (p.Tyr156Ser)
c.737A>C (p.Tyr246Ser)
c.215A>C (p.Tyr72Ser)
c.779A>C (p.Tyr260Ser)
c.-53A>C (n.-53A>C)
12g.51914550A>GCA6572978ACVRL1c.467A>G (p.Tyr156Cys)
c.737A>G (p.Tyr246Cys)
c.215A>G (p.Tyr72Cys)
c.779A>G (p.Tyr260Cys)
c.-53A>G (n.-53A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51914550A>TCA384900190ACVRL1c.467A>T (p.Tyr156Phe)
c.737A>T (p.Tyr246Phe)
c.215A>T (p.Tyr72Phe)
c.779A>T (p.Tyr260Phe)
c.-53A>T (n.-53A>T)
12g.51914551T>ACA384900191ACVRL1c.468T>A (p.Tyr156Ter)
c.738T>A (p.Tyr246Ter)
c.216T>A (p.Tyr72Ter)
c.780T>A (p.Tyr260Ter)
c.-52T>A (n.-52T>A)
12g.51914551T>CCA479808093ACVRL1c.468T>C (p.Tyr156=)
c.738T>C (p.Tyr246=)
c.216T>C (p.Tyr72=)
c.780T>C (p.Tyr260=)
c.-52T>C (n.-52T>C)
 gnomAD v4
12g.51914551T>GCA384900192ACVRL1c.468T>G (p.Tyr156Ter)
c.738T>G (p.Tyr246Ter)
c.216T>G (p.Tyr72Ter)
c.780T>G (p.Tyr260Ter)
c.-52T>G (n.-52T>G)
12g.51914552A>CCA384900195ACVRL1c.469A>C (p.Asn157His)
c.739A>C (p.Asn247His)
c.217A>C (p.Asn73His)
c.781A>C (p.Asn261His)
c.-51A>C (n.-51A>C)
12g.51914552A>GCA384900194ACVRL1c.469A>G (p.Asn157Asp)
c.739A>G (p.Asn247Asp)
c.217A>G (p.Asn73Asp)
c.781A>G (p.Asn261Asp)
c.-51A>G (n.-51A>G)
 gnomAD v4
12g.51914552A>TCA384900193ACVRL1c.469A>T (p.Asn157Tyr)
c.739A>T (p.Asn247Tyr)
c.217A>T (p.Asn73Tyr)
c.781A>T (p.Asn261Tyr)
c.-51A>T (n.-51A>T)
12g.51914552_51914554delinsAACCA2036269117ACVRL1c.469_471delinsAAC (p.Asn157=)
c.739_741delinsAAC (p.Asn247=)
c.217_219delinsAAC (p.Asn73=)
c.781_783delinsAAC (p.Asn261=)
c.-51_-49delinsAAC (n.-51_-49delinsAAC)
12g.51914553A=CA2036269118ACVRL1c.470A= (p.Asn157=)
c.740A= (p.Asn247=)
c.218A= (p.Asn73=)
c.782A= (p.Asn261=)
c.-50A= (n.-50A=)
12g.51914553A>CCA384900196ACVRL1c.470A>C (p.Asn157Thr)
c.740A>C (p.Asn247Thr)
c.218A>C (p.Asn73Thr)
c.782A>C (p.Asn261Thr)
c.-50A>C (n.-50A>C)
12g.51914553A>GCA384900197ACVRL1c.470A>G (p.Asn157Ser)
c.740A>G (p.Asn247Ser)
c.218A>G (p.Asn73Ser)
c.782A>G (p.Asn261Ser)
c.-50A>G (n.-50A>G)
12g.51914553A>TCA236363457ACVRL1c.470A>T (p.Asn157Ile)
c.740A>T (p.Asn247Ile)
c.218A>T (p.Asn73Ile)
c.782A>T (p.Asn261Ile)
c.-50A>T (n.-50A>T)
 dbSNP gnomAD v4
12g.51914556_51914557delCA645509325ACVRL1c.473_474del (p.Thr158SerfsTer?)
c.743_744del (p.Thr248SerfsTer?)
c.221_222del (p.Thr74SerfsTer?)
c.785_786del (p.Thr262SerfsTer?)
c.-47_-46del (n.-47_-46del)
 ClinVar dbSNP
12g.51914554C>ACA384900198ACVRL1c.471C>A (p.Asn157Lys)
c.741C>A (p.Asn247Lys)
c.219C>A (p.Asn73Lys)
c.783C>A (p.Asn261Lys)
c.-49C>A (n.-49C>A)
12g.51914554C=CA2036269119ACVRL1c.471C= (p.Asn157=)
c.741C= (p.Asn247=)
c.219C= (p.Asn73=)
c.783C= (p.Asn261=)
c.-49C= (n.-49C=)
12g.51914554C>GCA384900199ACVRL1c.471C>G (p.Asn157Lys)
c.741C>G (p.Asn247Lys)
c.219C>G (p.Asn73Lys)
c.783C>G (p.Asn261Lys)
c.-49C>G (n.-49C>G)
12g.51914554C>TCA479808100ACVRL1c.471C>T (p.Asn157=)
c.741C>T (p.Asn247=)
c.219C>T (p.Asn73=)
c.783C>T (p.Asn261=)
c.-49C>T (n.-49C>T)
 dbSNP gnomAD v2 gnomAD v4
12g.51914555A>CCA384900202ACVRL1c.472A>C (p.Thr158Pro)
c.742A>C (p.Thr248Pro)
c.220A>C (p.Thr74Pro)
c.784A>C (p.Thr262Pro)
c.-48A>C (n.-48A>C)
12g.51914555A>GCA384900201ACVRL1c.472A>G (p.Thr158Ala)
c.742A>G (p.Thr248Ala)
c.220A>G (p.Thr74Ala)
c.784A>G (p.Thr262Ala)
c.-48A>G (n.-48A>G)
12g.51914555A>TCA384900200ACVRL1c.472A>T (p.Thr158Ser)
c.742A>T (p.Thr248Ser)
c.220A>T (p.Thr74Ser)
c.784A>T (p.Thr262Ser)
c.-48A>T (n.-48A>T)
12g.51914556C>ACA384900203ACVRL1c.473C>A (p.Thr158Lys)
c.743C>A (p.Thr248Lys)
c.221C>A (p.Thr74Lys)
c.785C>A (p.Thr262Lys)
c.-47C>A (n.-47C>A)
12g.51914556C>GCA384900204ACVRL1c.473C>G (p.Thr158Arg)
c.743C>G (p.Thr248Arg)
c.221C>G (p.Thr74Arg)
c.785C>G (p.Thr262Arg)
c.-47C>G (n.-47C>G)
12g.51914556C>TCA384900205ACVRL1c.473C>T (p.Thr158Ile)
c.743C>T (p.Thr248Ile)
c.221C>T (p.Thr74Ile)
c.785C>T (p.Thr262Ile)
c.-47C>T (n.-47C>T)
12g.51914557A>CCA479808107ACVRL1c.474A>C (p.Thr158=)
c.744A>C (p.Thr248=)
c.222A>C (p.Thr74=)
c.786A>C (p.Thr262=)
c.-46A>C (n.-46A>C)
12g.51914557A>GCA479808109ACVRL1c.474A>G (p.Thr158=)
c.744A>G (p.Thr248=)
c.222A>G (p.Thr74=)
c.786A>G (p.Thr262=)
c.-46A>G (n.-46A>G)
 gnomAD v4
12g.51914557A>TCA479808110ACVRL1c.474A>T (p.Thr158=)
c.744A>T (p.Thr248=)
c.222A>T (p.Thr74=)
c.786A>T (p.Thr262=)
c.-46A>T (n.-46A>T)
12g.51914558G>ACA384900206ACVRL1c.475G>A (p.Val159Met)
c.745G>A (p.Val249Met)
c.223G>A (p.Val75Met)
c.787G>A (p.Val263Met)
c.-45G>A (n.-45G>A)
12g.51914558G>CCA384900207ACVRL1c.475G>C (p.Val159Leu)
c.745G>C (p.Val249Leu)
c.223G>C (p.Val75Leu)
c.787G>C (p.Val263Leu)
c.-45G>C (n.-45G>C)
12g.51914558G>TCA384900208ACVRL1c.475G>T (p.Val159Leu)
c.745G>T (p.Val249Leu)
c.223G>T (p.Val75Leu)
c.787G>T (p.Val263Leu)
c.-45G>T (n.-45G>T)
12g.51914559T>ACA384900209ACVRL1c.476T>A (p.Val159Glu)
c.746T>A (p.Val249Glu)
c.224T>A (p.Val75Glu)
c.788T>A (p.Val263Glu)
c.-44T>A (n.-44T>A)
12g.51914559T>CCA384900211ACVRL1c.476T>C (p.Val159Ala)
c.746T>C (p.Val249Ala)
c.224T>C (p.Val75Ala)
c.788T>C (p.Val263Ala)
c.-44T>C (n.-44T>C)
 dbSNP gnomAD v3 gnomAD v4
12g.51914559T>GCA384900210ACVRL1c.476T>G (p.Val159Gly)
c.746T>G (p.Val249Gly)
c.224T>G (p.Val75Gly)
c.788T>G (p.Val263Gly)
c.-44T>G (n.-44T>G)
12g.51914559T=CA2036269120ACVRL1c.476T= (p.Val159=)
c.746T= (p.Val249=)
c.224T= (p.Val75=)
c.788T= (p.Val263=)
c.-44T= (n.-44T=)
12g.51914560G>ACA319942ACVRL1c.477G>A (p.Val159=)
c.747G>A (p.Val249=)
c.225G>A (p.Val75=)
c.789G>A (p.Val263=)
c.-43G>A (n.-43G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51914560G>CCA479808121ACVRL1c.477G>C (p.Val159=)
c.747G>C (p.Val249=)
c.225G>C (p.Val75=)
c.789G>C (p.Val263=)
c.-43G>C (n.-43G>C)
12g.51914560G=CA2036269121ACVRL1c.477G= (p.Val159=)
c.747G= (p.Val249=)
c.225G= (p.Val75=)
c.789G= (p.Val263=)
c.-43G= (n.-43G=)
12g.51914560G>TCA479808123ACVRL1c.477G>T (p.Val159=)
c.747G>T (p.Val249=)
c.225G>T (p.Val75=)
c.789G>T (p.Val263=)
c.-43G>T (n.-43G>T)
12g.51914561T>ACA384900212ACVRL1c.478T>A (p.Leu160Met)
c.748T>A (p.Leu250Met)
c.226T>A (p.Leu76Met)
c.478T>A
c.790T>A (p.Leu264Met)
c.-42T>A (n.-42T>A)
12g.51914561T>CCA236363459ACVRL1c.478T>C (p.Leu160=)
c.748T>C (p.Leu250=)
c.226T>C (p.Leu76=)
c.478T>C
c.790T>C (p.Leu264=)
c.-42T>C (n.-42T>C)
 dbSNP gnomAD v4
12g.51914561T>GCA384900213ACVRL1c.478T>G (p.Leu160Val)
c.748T>G (p.Leu250Val)
c.226T>G (p.Leu76Val)
c.478T>G
c.790T>G (p.Leu264Val)
c.-42T>G (n.-42T>G)
 ClinVar
12g.51914561T=CA2036269122ACVRL1c.478T= (p.Leu160=)
c.748T= (p.Leu250=)
c.226T= (p.Leu76=)
c.478T=
c.790T= (p.Leu264=)
c.-42T= (n.-42T=)
12g.51914562T>ACA384900214ACVRL1c.479T>A (p.Leu160Ter)
c.749T>A (p.Leu250Ter)
c.227T>A (p.Leu76Ter)
c.791T>A (p.Leu264Ter)
c.-41T>A (n.-41T>A)
12g.51914562T>CCA236363464ACVRL1c.479T>C (p.Leu160Ser)
c.749T>C (p.Leu250Ser)
c.227T>C (p.Leu76Ser)
c.791T>C (p.Leu264Ser)
c.-41T>C (n.-41T>C)
 dbSNP
12g.51914562T>GCA384900215ACVRL1c.479T>G (p.Leu160Trp)
c.749T>G (p.Leu250Trp)
c.227T>G (p.Leu76Trp)
c.791T>G (p.Leu264Trp)
c.-41T>G (n.-41T>G)
12g.51914562T=CA2036269123ACVRL1c.479T= (p.Leu160=)
c.749T= (p.Leu250=)
c.227T= (p.Leu76=)
c.791T= (p.Leu264=)
c.-41T= (n.-41T=)
12g.51914563G>ACA479808133ACVRL1c.480G>A (p.Leu160=)
c.750G>A (p.Leu250=)
c.228G>A (p.Leu76=)
c.792G>A (p.Leu264=)
c.-40G>A (n.-40G>A)
12g.51914563G>CCA384900216ACVRL1c.480G>C (p.Leu160Phe)
c.750G>C (p.Leu250Phe)
c.228G>C (p.Leu76Phe)
c.792G>C (p.Leu264Phe)
c.-40G>C (n.-40G>C)
12g.51914563G>TCA384900217ACVRL1c.480G>T (p.Leu160Phe)
c.750G>T (p.Leu250Phe)
c.228G>T (p.Leu76Phe)
c.792G>T (p.Leu264Phe)
c.-40G>T (n.-40G>T)
12g.51914564C>ACA384900218ACVRL1c.481C>A (p.Leu161Ile)
c.751C>A (p.Leu251Ile)
c.229C>A (p.Leu77Ile)
c.793C>A (p.Leu265Ile)
c.-39C>A (n.-39C>A)
12g.51914564C>GCA384900219ACVRL1c.481C>G (p.Leu161Val)
c.751C>G (p.Leu251Val)
c.229C>G (p.Leu77Val)
c.793C>G (p.Leu265Val)
c.-39C>G (n.-39C>G)
12g.51914564C>TCA384900220ACVRL1c.481C>T (p.Leu161Phe)
c.751C>T (p.Leu251Phe)
c.229C>T (p.Leu77Phe)
c.793C>T (p.Leu265Phe)
c.-39C>T (n.-39C>T)
12g.51914565T>ACA384900221ACVRL1c.482T>A (p.Leu161His)
c.752T>A (p.Leu251His)
c.230T>A (p.Leu77His)
c.794T>A (p.Leu265His)
c.-38T>A (n.-38T>A)
12g.51914565T>CCA384900223ACVRL1c.482T>C (p.Leu161Pro)
c.752T>C (p.Leu251Pro)
c.230T>C (p.Leu77Pro)
c.794T>C (p.Leu265Pro)
c.-38T>C (n.-38T>C)
12g.51914565T>GCA384900222ACVRL1c.482T>G (p.Leu161Arg)
c.752T>G (p.Leu251Arg)
c.230T>G (p.Leu77Arg)
c.794T>G (p.Leu265Arg)
c.-38T>G (n.-38T>G)
12g.51914566C>ACA479808144ACVRL1c.483C>A (p.Leu161=)
c.753C>A (p.Leu251=)
c.231C>A (p.Leu77=)
c.795C>A (p.Leu265=)
c.-37C>A (n.-37C>A)
 gnomAD v4
12g.51914566C>GCA479808147ACVRL1c.483C>G (p.Leu161=)
c.753C>G (p.Leu251=)
c.231C>G (p.Leu77=)
c.795C>G (p.Leu265=)
c.-37C>G (n.-37C>G)
 ClinVar
12g.51914566C>TCA479808148ACVRL1c.483C>T (p.Leu161=)
c.753C>T (p.Leu251=)
c.231C>T (p.Leu77=)
c.795C>T (p.Leu265=)
c.-37C>T (n.-37C>T)
12g.51914567A>CCA479808151ACVRL1c.484A>C (p.Arg162=)
c.754A>C (p.Arg252=)
c.232A>C (p.Arg78=)
c.796A>C (p.Arg266=)
c.-36A>C (n.-36A>C)
12g.51914567A>GCA384900224ACVRL1c.484A>G (p.Arg162Gly)
c.754A>G (p.Arg252Gly)
c.232A>G (p.Arg78Gly)
c.796A>G (p.Arg266Gly)
c.-36A>G (n.-36A>G)
12g.51914567A>TCA384900225ACVRL1c.484A>T (p.Arg162Ter)
c.754A>T (p.Arg252Ter)
c.232A>T (p.Arg78Ter)
c.796A>T (p.Arg266Ter)
c.-36A>T (n.-36A>T)
12g.51914568G>ACA384900226ACVRL1c.485G>A (p.Arg162Lys)
c.755G>A (p.Arg252Lys)
c.233G>A (p.Arg78Lys)
c.797G>A (p.Arg266Lys)
c.-35G>A (n.-35G>A)
12g.51914568G>CCA384900228ACVRL1c.485G>C (p.Arg162Thr)
c.755G>C (p.Arg252Thr)
c.233G>C (p.Arg78Thr)
c.797G>C (p.Arg266Thr)
c.-35G>C (n.-35G>C)
12g.51914568G>TCA384900227ACVRL1c.485G>T (p.Arg162Ile)
c.755G>T (p.Arg252Ile)
c.233G>T (p.Arg78Ile)
c.797G>T (p.Arg266Ile)
c.-35G>T (n.-35G>T)
12g.51914569A=CA2036269124ACVRL1c.486A= (p.Arg162=)
c.756A= (p.Arg252=)
c.234A= (p.Arg78=)
c.798A= (p.Arg266=)
c.-34A= (n.-34A=)
12g.51914569A>CCA384900229ACVRL1c.486A>C (p.Arg162Ser)
c.756A>C (p.Arg252Ser)
c.234A>C (p.Arg78Ser)
c.798A>C (p.Arg266Ser)
c.-34A>C (n.-34A>C)
12g.51914569A>GCA479808160ACVRL1c.486A>G (p.Arg162=)
c.756A>G (p.Arg252=)
c.234A>G (p.Arg78=)
c.798A>G (p.Arg266=)
c.-34A>G (n.-34A>G)
 dbSNP
12g.51914569A>TCA384900230ACVRL1c.486A>T (p.Arg162Ser)
c.756A>T (p.Arg252Ser)
c.234A>T (p.Arg78Ser)
c.798A>T (p.Arg266Ser)
c.-34A>T (n.-34A>T)
12g.51914570C>ACA384900231ACVRL1c.487C>A (p.His163Asn)
c.757C>A (p.His253Asn)
c.235C>A (p.His79Asn)
c.799C>A (p.His267Asn)
c.-33C>A (n.-33C>A)
 dbSNP
12g.51914570C=CA2036269126ACVRL1c.487C= (p.His163=)
c.757C= (p.His253=)
c.235C= (p.His79=)
c.799C= (p.His267=)
c.-33C= (n.-33C=)
12g.51914570C>GCA384900232ACVRL1c.487C>G (p.His163Asp)
c.757C>G (p.His253Asp)
c.235C>G (p.His79Asp)
c.799C>G (p.His267Asp)
c.-33C>G (n.-33C>G)
12g.51914570C>TCA384900233ACVRL1c.487C>T (p.His163Tyr)
c.757C>T (p.His253Tyr)
c.235C>T (p.His79Tyr)
c.799C>T (p.His267Tyr)
c.-33C>T (n.-33C>T)
 dbSNP
12g.51914570_51914573delinsCACGCA2036269125ACVRL1c.487_490delinsCACG (p.His163=)
c.757_760delinsCACG (p.His253=)
c.235_238delinsCACG (p.His79=)
c.799_802delinsCACG (p.His267=)
c.-33_-30delinsCACG (n.-33_-30delinsCACG)
12g.51914571A>CCA384900234ACVRL1c.488A>C (p.His163Pro)
c.758A>C (p.His253Pro)
c.236A>C (p.His79Pro)
c.800A>C (p.His267Pro)
c.-32A>C (n.-32A>C)
12g.51914571A>GCA384900235ACVRL1c.488A>G (p.His163Arg)
c.758A>G (p.His253Arg)
c.236A>G (p.His79Arg)
c.800A>G (p.His267Arg)
c.-32A>G (n.-32A>G)
 ClinVar dbSNP
12g.51914571A>TCA384900236ACVRL1c.488A>T (p.His163Leu)
c.758A>T (p.His253Leu)
c.236A>T (p.His79Leu)
c.800A>T (p.His267Leu)
c.-32A>T (n.-32A>T)
12g.51914573_51914575delCA119399ACVRL1c.490_492del (p.Asp164del)
c.760_762del (p.Asp254del)
c.238_240del (p.Asp80del)
c.802_804del (p.Asp268del)
c.-30_-28del (n.-30_-28del)
 ClinVar dbSNP
12g.51914572C>ACA384900237ACVRL1c.489C>A (p.His163Gln)
c.759C>A (p.His253Gln)
c.237C>A (p.His79Gln)
c.801C>A (p.His267Gln)
c.-31C>A (n.-31C>A)
12g.51914572C=CA2036269127ACVRL1c.489C= (p.His163=)
c.759C= (p.His253=)
c.237C= (p.His79=)
c.801C= (p.His267=)
c.-31C= (n.-31C=)
12g.51914572C>GCA384900238ACVRL1c.489C>G (p.His163Gln)
c.759C>G (p.His253Gln)
c.237C>G (p.His79Gln)
c.801C>G (p.His267Gln)
c.-31C>G (n.-31C>G)
 dbSNP gnomAD v4
12g.51914572C>TCA6572979ACVRL1c.489C>T (p.His163=)
c.759C>T (p.His253=)
c.237C>T (p.His79=)
c.801C>T (p.His267=)
c.-31C>T (n.-31C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.51914573G>ACA384900241ACVRL1c.490G>A (p.Asp164Asn)
c.760G>A (p.Asp254Asn)
c.238G>A (p.Asp80Asn)
c.802G>A (p.Asp268Asn)
c.-30G>A (n.-30G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.51914573G>CCA384900240ACVRL1c.490G>C (p.Asp164His)
c.760G>C (p.Asp254His)
c.238G>C (p.Asp80His)
c.802G>C (p.Asp268His)
c.-30G>C (n.-30G>C)
12g.51914573G=CA2036269128ACVRL1c.490G= (p.Asp164=)
c.760G= (p.Asp254=)
c.238G= (p.Asp80=)
c.802G= (p.Asp268=)
c.-30G= (n.-30G=)
12g.51914573G>TCA384900239ACVRL1c.490G>T (p.Asp164Tyr)
c.760G>T (p.Asp254Tyr)
c.238G>T (p.Asp80Tyr)
c.802G>T (p.Asp268Tyr)
c.-30G>T (n.-30G>T)
 gnomAD v4
12g.51914574A>CCA384900242ACVRL1c.491A>C (p.Asp164Ala)
c.761A>C (p.Asp254Ala)
c.239A>C (p.Asp80Ala)
c.803A>C (p.Asp268Ala)
c.-29A>C (n.-29A>C)
12g.51914574A>GCA384900243ACVRL1c.491A>G (p.Asp164Gly)
c.761A>G (p.Asp254Gly)
c.239A>G (p.Asp80Gly)
c.803A>G (p.Asp268Gly)
c.-29A>G (n.-29A>G)
12g.51914574A>TCA384900244ACVRL1c.491A>T (p.Asp164Val)
c.761A>T (p.Asp254Val)
c.239A>T (p.Asp80Val)
c.803A>T (p.Asp268Val)
c.-29A>T (n.-29A>T)
 gnomAD v4
12g.51914577_51914579delCA2739272045ACVRL1c.494_496del (p.Asn165del)
c.764_766del (p.Asn255del)
c.242_244del (p.Asn81del)
c.806_808del (p.Asn269del)
c.-26_-24del (n.-26_-24del)
 ClinVar
12g.51914575C>ACA384900245ACVRL1c.492C>A (p.Asp164Glu)
c.762C>A (p.Asp254Glu)
c.240C>A (p.Asp80Glu)
c.804C>A (p.Asp268Glu)
c.-28C>A (n.-28C>A)
12g.51914575C>GCA384900246ACVRL1c.492C>G (p.Asp164Glu)
c.762C>G (p.Asp254Glu)
c.240C>G (p.Asp80Glu)
c.804C>G (p.Asp268Glu)
c.-28C>G (n.-28C>G)
12g.51914575C>TCA479808182ACVRL1c.492C>T (p.Asp164=)
c.762C>T (p.Asp254=)
c.240C>T (p.Asp80=)
c.804C>T (p.Asp268=)
c.-28C>T (n.-28C>T)
12g.51914576A=CA2036269129ACVRL1c.493A= (p.Asn165=)
c.763A= (p.Asn255=)
c.241A= (p.Asn81=)
c.805A= (p.Asn269=)
c.-27A= (n.-27A=)
12g.51914576A>CCA384900247ACVRL1c.493A>C (p.Asn165His)
c.763A>C (p.Asn255His)
c.241A>C (p.Asn81His)
c.805A>C (p.Asn269His)
c.-27A>C (n.-27A>C)
12g.51914576A>GCA6572980ACVRL1c.493A>G (p.Asn165Asp)
c.763A>G (p.Asn255Asp)
c.241A>G (p.Asn81Asp)
c.805A>G (p.Asn269Asp)
c.-27A>G (n.-27A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51914576A>TCA384900248ACVRL1c.493A>T (p.Asn165Tyr)
c.763A>T (p.Asn255Tyr)
c.241A>T (p.Asn81Tyr)
c.805A>T (p.Asn269Tyr)
c.-27A>T (n.-27A>T)
12g.51914577A>CCA384900249ACVRL1c.494A>C (p.Asn165Thr)
c.764A>C (p.Asn255Thr)
c.242A>C (p.Asn81Thr)
c.806A>C (p.Asn269Thr)
c.-26A>C (n.-26A>C)
12g.51914577A>GCA384900250ACVRL1c.494A>G (p.Asn165Ser)
c.764A>G (p.Asn255Ser)
c.242A>G (p.Asn81Ser)
c.806A>G (p.Asn269Ser)
c.-26A>G (n.-26A>G)
12g.51914577A>TCA384900251ACVRL1c.494A>T (p.Asn165Ile)
c.764A>T (p.Asn255Ile)
c.242A>T (p.Asn81Ile)
c.806A>T (p.Asn269Ile)
c.-26A>T (n.-26A>T)
12g.51914578C>ACA384900253ACVRL1c.495C>A (p.Asn165Lys)
c.765C>A (p.Asn255Lys)
c.243C>A (p.Asn81Lys)
c.807C>A (p.Asn269Lys)
c.-25C>A (n.-25C>A)
12g.51914578C>GCA384900252ACVRL1c.495C>G (p.Asn165Lys)
c.765C>G (p.Asn255Lys)
c.243C>G (p.Asn81Lys)
c.807C>G (p.Asn269Lys)
c.-25C>G (n.-25C>G)
12g.51914578C>TCA479808193ACVRL1c.495C>T (p.Asn165=)
c.765C>T (p.Asn255=)
c.243C>T (p.Asn81=)
c.807C>T (p.Asn269=)
c.-25C>T (n.-25C>T)
12g.51914579delCA2580086473ACVRL1c.496del (p.Ile166SerfsTer2)
c.766del (p.Ile256SerfsTer2)
c.244del (p.Ile82SerfsTer2)
c.808del (p.Ile270SerfsTer2)
c.-24del (n.-24del)
 ClinVar
12g.51914579A>CCA384900254ACVRL1c.496A>C (p.Ile166Leu)
c.766A>C (p.Ile256Leu)
c.244A>C (p.Ile82Leu)
c.808A>C (p.Ile270Leu)
c.-24A>C (n.-24A>C)
 gnomAD v4
12g.51914579A>GCA384900255ACVRL1c.496A>G (p.Ile166Val)
c.766A>G (p.Ile256Val)
c.244A>G (p.Ile82Val)
c.808A>G (p.Ile270Val)
c.-24A>G (n.-24A>G)
12g.51914579A>TCA384900256ACVRL1c.496A>T (p.Ile166Phe)
c.766A>T (p.Ile256Phe)
c.244A>T (p.Ile82Phe)
c.808A>T (p.Ile270Phe)
c.-24A>T (n.-24A>T)
12g.51914580T>ACA384900257ACVRL1c.497T>A (p.Ile166Asn)
c.767T>A (p.Ile256Asn)
c.245T>A (p.Ile82Asn)
c.809T>A (p.Ile270Asn)
c.-23T>A (n.-23T>A)
12g.51914580T>CCA384900258ACVRL1c.497T>C (p.Ile166Thr)
c.767T>C (p.Ile256Thr)
c.245T>C (p.Ile82Thr)
c.809T>C (p.Ile270Thr)
c.-23T>C (n.-23T>C)
12g.51914580T>GCA384900259ACVRL1c.497T>G (p.Ile166Ser)
c.767T>G (p.Ile256Ser)
c.245T>G (p.Ile82Ser)
c.809T>G (p.Ile270Ser)
c.-23T>G (n.-23T>G)
 ClinVar
12g.51914581C>ACA479808203ACVRL1c.498C>A (p.Ile166=)
c.768C>A (p.Ile256=)
c.246C>A (p.Ile82=)
c.810C>A (p.Ile270=)
c.-22C>A (n.-22C>A)
12g.51914581C=CA2036269130ACVRL1c.498C= (p.Ile166=)
c.768C= (p.Ile256=)
c.246C= (p.Ile82=)
c.810C= (p.Ile270=)
c.-22C= (n.-22C=)
12g.51914581C>GCA384900260ACVRL1c.498C>G (p.Ile166Met)
c.768C>G (p.Ile256Met)
c.246C>G (p.Ile82Met)
c.810C>G (p.Ile270Met)
c.-22C>G (n.-22C>G)
12g.51914581C>TCA479808206ACVRL1c.498C>T (p.Ile166=)
c.768C>T (p.Ile256=)
c.246C>T (p.Ile82=)
c.810C>T (p.Ile270=)
c.-22C>T (n.-22C>T)
 dbSNP gnomAD v4
12g.51914582C>ACA384900262ACVRL1c.499C>A (p.Leu167Ile)
c.769C>A (p.Leu257Ile)
c.247C>A (p.Leu83Ile)
c.811C>A (p.Leu271Ile)
c.-21C>A (n.-21C>A)
12g.51914582C>GCA384900261ACVRL1c.499C>G (p.Leu167Val)
c.769C>G (p.Leu257Val)
c.247C>G (p.Leu83Val)
c.811C>G (p.Leu271Val)
c.-21C>G (n.-21C>G)
12g.51914582C>TCA479808210ACVRL1c.499C>T (p.Leu167=)
c.769C>T (p.Leu257=)
c.247C>T (p.Leu83=)
c.811C>T (p.Leu271=)
c.-21C>T (n.-21C>T)
12g.51914583T>ACA384900263ACVRL1c.500T>A (p.Leu167Gln)
c.770T>A (p.Leu257Gln)
c.248T>A (p.Leu83Gln)
c.812T>A (p.Leu271Gln)
c.-20T>A (n.-20T>A)
12g.51914583T>CCA384900264ACVRL1c.500T>C (p.Leu167Pro)
c.770T>C (p.Leu257Pro)
c.248T>C (p.Leu83Pro)
c.812T>C (p.Leu271Pro)
c.-20T>C (n.-20T>C)
 ClinVar dbSNP
12g.51914583T>GCA384900265ACVRL1c.500T>G (p.Leu167Arg)
c.770T>G (p.Leu257Arg)
c.248T>G (p.Leu83Arg)
c.812T>G (p.Leu271Arg)
c.-20T>G (n.-20T>G)
12g.51914584A>CCA479808217ACVRL1c.501A>C (p.Leu167=)
c.771A>C (p.Leu257=)
c.249A>C (p.Leu83=)
c.813A>C (p.Leu271=)
c.-19A>C (n.-19A>C)
12g.51914584A>GCA479808219ACVRL1c.501A>G (p.Leu167=)
c.771A>G (p.Leu257=)
c.249A>G (p.Leu83=)
c.813A>G (p.Leu271=)
c.-19A>G (n.-19A>G)
 gnomAD v4
12g.51914584A>TCA479808220ACVRL1c.501A>T (p.Leu167=)
c.771A>T (p.Leu257=)
c.249A>T (p.Leu83=)
c.813A>T (p.Leu271=)
c.-19A>T (n.-19A>T)
12g.51914585G>ACA384900266ACVRL1c.502G>A (p.Gly168Ser)
c.772G>A (p.Gly258Ser)
c.250G>A (p.Gly84Ser)
c.814G>A (p.Gly272Ser)
c.-18G>A (n.-18G>A)
 ClinVar dbSNP
12g.51914585G>CCA384900267ACVRL1c.502G>C (p.Gly168Arg)
c.772G>C (p.Gly258Arg)
c.250G>C (p.Gly84Arg)
c.814G>C (p.Gly272Arg)
c.-18G>C (n.-18G>C)
12g.51914585G=CA2036269131ACVRL1c.502G= (p.Gly168=)
c.772G= (p.Gly258=)
c.250G= (p.Gly84=)
c.814G= (p.Gly272=)
c.-18G= (n.-18G=)
12g.51914585G>TCA384900268ACVRL1c.502G>T (p.Gly168Cys)
c.772G>T (p.Gly258Cys)
c.250G>T (p.Gly84Cys)
c.814G>T (p.Gly272Cys)
c.-18G>T (n.-18G>T)
12g.51914586G>ACA384900269ACVRL1c.502+1G>A (n.502+1G>A)
c.772+1G>A (n.772+1G>A)
c.250+1G>A (n.250+1G>A)
c.814+1G>A (n.814+1G>A)
c.-18+1G>A (n.-18+1G>A)
12g.51914586G>CCA384900271ACVRL1c.502+1G>C (n.502+1G>C)
c.772+1G>C (n.772+1G>C)
c.250+1G>C (n.250+1G>C)
c.814+1G>C (n.814+1G>C)
c.-18+1G>C (n.-18+1G>C)
 ClinVar dbSNP
12g.51914586G=CA2036269132ACVRL1c.502+1G= (n.502+1G=)
c.772+1G= (n.772+1G=)
c.250+1G= (n.250+1G=)
c.814+1G= (n.814+1G=)
c.-18+1G= (n.-18+1G=)
12g.51914586G>TCA384900270ACVRL1c.502+1G>T (n.502+1G>T)
c.772+1G>T (n.772+1G>T)
c.250+1G>T (n.250+1G>T)
c.814+1G>T (n.814+1G>T)
c.-18+1G>T (n.-18+1G>T)
12g.51914587C>ACA384900272ACVRL1c.502+2C>A (n.502+2C>A)
c.772+2C>A (n.772+2C>A)
c.250+2C>A (n.250+2C>A)
c.814+2C>A (n.814+2C>A)
c.-18+2C>A (n.-18+2C>A)
12g.51914587C>GCA384900273ACVRL1c.502+2C>G (n.502+2C>G)
c.772+2C>G (n.772+2C>G)
c.250+2C>G (n.250+2C>G)
c.814+2C>G (n.814+2C>G)
c.-18+2C>G (n.-18+2C>G)
12g.51914587C>TCA384900274ACVRL1c.502+2C>T (n.502+2C>T)
c.772+2C>T (n.772+2C>T)
c.250+2C>T (n.250+2C>T)
c.814+2C>T (n.814+2C>T)
c.-18+2C>T (n.-18+2C>T)
12g.51914588A>GCA2618856764ACVRL1c.502+3A>G (n.502+3A>G)
c.772+3A>G (n.772+3A>G)
c.250+3A>G (n.250+3A>G)
c.814+3A>G (n.814+3A>G)
c.-18+3A>G (n.-18+3A>G)
 gnomAD v4
12g.51914588_51914589dupCA2695216737ACVRL1c.502+3_502+4dup (n.502+3_502+4dup)
c.772+3_772+4dup (n.772+3_772+4dup)
c.250+3_250+4dup (n.250+3_250+4dup)
c.814+3_814+4dup (n.814+3_814+4dup)
c.-18+3_-18+4dup (n.-18+3_-18+4dup)
12g.51914589_51914590delinsAGCA2036269134ACVRL1c.502+4_502+5delinsAG (n.502+4_502+5delinsAG)
c.772+4_772+5delinsAG (n.772+4_772+5delinsAG)
c.250+4_250+5delinsAG (n.250+4_250+5delinsAG)
c.814+4_814+5delinsAG (n.814+4_814+5delinsAG)
c.-18+4_-18+5delinsAG (n.-18+4_-18+5delinsAG)
12g.51914589_51914615delinsAGGGGAGAGGCCAGCTGTGCCAGGCCTCA2036269133ACVRL1c.502+4_502+30delinsAGGGGAGAGGCCAGCTGTGCCAGGCCT (n.502+4_502+30delinsAGGGGAGAGGCCAGCTGTGCCAGGCCT)
c.772+4_772+30delinsAGGGGAGAGGCCAGCTGTGCCAGGCCT (n.772+4_772+30delinsAGGGGAGAGGCCAGCTGTGCCAGGCCT)
c.250+4_250+30delinsAGGGGAGAGGCCAGCTGTGCCAGGCCT (n.250+4_250+30delinsAGGGGAGAGGCCAGCTGTGCCAGGCCT)
c.814+4_814+30delinsAGGGGAGAGGCCAGCTGTGCCAGGCCT (n.814+4_814+30delinsAGGGGAGAGGCCAGCTGTGCCAGGCCT)
c.-18+4_-18+30delinsAGGGGAGAGGCCAGCTGTGCCAGGCCT (n.-18+4_-18+30delinsAGGGGAGAGGCCAGCTGTGCCAGGCCT)
12g.51914590G>ACA2580086474ACVRL1c.502+5G>A (n.502+5G>A)
c.772+5G>A (n.772+5G>A)
c.250+5G>A (n.250+5G>A)
c.814+5G>A (n.814+5G>A)
c.-18+5G>A (n.-18+5G>A)
 ClinVar
12g.51914593delCA605051888ACVRL1c.502+8del (n.502+8del)
c.772+8del (n.772+8del)
c.250+8del (n.250+8del)
c.814+8del (n.814+8del)
c.-18+8del (n.-18+8del)
 dbSNP gnomAD v2
12g.51914594_51914619delCA605051889ACVRL1c.502+9_502+34del (n.502+9_502+34del)
c.772+9_772+34del (n.772+9_772+34del)
c.250+9_250+34del (n.250+9_250+34del)
c.814+9_814+34del (n.814+9_814+34del)
c.-18+9_-18+34del (n.-18+9_-18+34del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51914591G>ACA6572981ACVRL1c.502+6G>A (n.502+6G>A)
c.772+6G>A (n.772+6G>A)
c.250+6G>A (n.250+6G>A)
c.814+6G>A (n.814+6G>A)
c.-18+6G>A (n.-18+6G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51914591G=CA2036269135ACVRL1c.502+6G= (n.502+6G=)
c.772+6G= (n.772+6G=)
c.250+6G= (n.250+6G=)
c.814+6G= (n.814+6G=)
c.-18+6G= (n.-18+6G=)
12g.51914593G>ACA2575161467ACVRL1c.502+8G>A (n.502+8G>A)
c.772+8G>A (n.772+8G>A)
c.250+8G>A (n.250+8G>A)
c.814+8G>A (n.814+8G>A)
c.-18+8G>A (n.-18+8G>A)
12g.51914599C>GCA2618856772ACVRL1c.502+14C>G (n.502+14C>G)
c.772+14C>G (n.772+14C>G)
c.250+14C>G (n.250+14C>G)
c.814+14C>G (n.814+14C>G)
c.-18+14C>G (n.-18+14C>G)
 gnomAD v4
12g.51914599_51914601delinsTAGCA2739272046ACVRL1c.502+14_502+16delinsTAG (n.502+14_502+16delinsTAG)
c.772+14_772+16delinsTAG (n.772+14_772+16delinsTAG)
c.250+14_250+16delinsTAG (n.250+14_250+16delinsTAG)
c.814+14_814+16delinsTAG (n.814+14_814+16delinsTAG)
c.-18+14_-18+16delinsTAG (n.-18+14_-18+16delinsTAG)
 ClinVar
12g.51914600C=CA2036269136ACVRL1c.502+15C= (n.502+15C=)
c.772+15C= (n.772+15C=)
c.250+15C= (n.250+15C=)
c.814+15C= (n.814+15C=)
c.-18+15C= (n.-18+15C=)
12g.51914600C>TCA2036269137ACVRL1c.502+15C>T (n.502+15C>T)
c.772+15C>T (n.772+15C>T)
c.250+15C>T (n.250+15C>T)
c.814+15C>T (n.814+15C>T)
c.-18+15C>T (n.-18+15C>T)
 dbSNP
12g.51914601A>CCA2618856773ACVRL1c.502+16A>C (n.502+16A>C)
c.772+16A>C (n.772+16A>C)
c.250+16A>C (n.250+16A>C)
c.814+16A>C (n.814+16A>C)
c.-18+16A>C (n.-18+16A>C)
 gnomAD v4

Number of alleles fetched