Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.43338669G>ACA160821MPLc.340G>A (p.Val114Met)
c.319G>A (p.Val107Met)
n.340G>A
c.511G>A (p.Val171Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338669G>CCA339973807MPLc.340G>C (p.Val114Leu)
c.319G>C (p.Val107Leu)
n.340G>C
c.511G>C (p.Val171Leu)
 dbSNP
1g.43338669G=CA1140414686MPLc.340G= (p.Val114=)
c.319G= (p.Val107=)
n.340G=
c.511G= (p.Val171=)
1g.43338669G>TCA339973804MPLc.340G>T (p.Val114Leu)
c.319G>T (p.Val107Leu)
n.340G>T
c.511G>T (p.Val171Leu)
1g.43338670T>ACA339973811MPLc.341T>A (p.Val114Glu)
c.320T>A (p.Val107Glu)
n.341T>A
c.512T>A (p.Val171Glu)
1g.43338670T>CCA339973815MPLc.341T>C (p.Val114Ala)
c.320T>C (p.Val107Ala)
n.341T>C
c.512T>C (p.Val171Ala)
1g.43338670T>GCA339973813MPLc.341T>G (p.Val114Gly)
c.320T>G (p.Val107Gly)
n.341T>G
c.512T>G (p.Val171Gly)
1g.43338671G>ACA417417684MPLc.342G>A (p.Val114=)
c.321G>A (p.Val107=)
n.342G>A
c.513G>A (p.Val171=)
 dbSNP
1g.43338671G>CCA417417686MPLc.342G>C (p.Val114=)
c.321G>C (p.Val107=)
n.342G>C
c.513G>C (p.Val171=)
1g.43338671G>TCA417417689MPLc.342G>T (p.Val114=)
c.321G>T (p.Val107=)
n.342G>T
c.513G>T (p.Val171=)
1g.43338672T>ACA339973819MPLc.343T>A (p.Phe115Ile)
c.322T>A (p.Phe108Ile)
n.343T>A
c.514T>A (p.Phe172Ile)
1g.43338672T>CCA339973822MPLc.343T>C (p.Phe115Leu)
c.322T>C (p.Phe108Leu)
n.343T>C
c.514T>C (p.Phe172Leu)
1g.43338672T>GCA339973825MPLc.343T>G (p.Phe115Val)
c.322T>G (p.Phe108Val)
n.343T>G
c.514T>G (p.Phe172Val)
1g.43338673T>ACA339973829MPLc.344T>A (p.Phe115Tyr)
c.323T>A (p.Phe108Tyr)
n.344T>A
c.515T>A (p.Phe172Tyr)
1g.43338673T>CCA339973832MPLc.344T>C (p.Phe115Ser)
c.323T>C (p.Phe108Ser)
n.344T>C
c.515T>C (p.Phe172Ser)
1g.43338673T>GCA339973834MPLc.344T>G (p.Phe115Cys)
c.323T>G (p.Phe108Cys)
n.344T>G
c.515T>G (p.Phe172Cys)
1g.43338674C>ACA339973837MPLc.345C>A (p.Phe115Leu)
c.324C>A (p.Phe108Leu)
n.345C>A
c.516C>A (p.Phe172Leu)
1g.43338674C>GCA339973840MPLc.345C>G (p.Phe115Leu)
c.324C>G (p.Phe108Leu)
n.345C>G
c.516C>G (p.Phe172Leu)
 dbSNP
1g.43338674C>TCA417417713MPLc.345C>T (p.Phe115=)
c.324C>T (p.Phe108=)
n.345C>T
c.516C>T (p.Phe172=)
1g.43338675C>ACA339973843MPLc.346C>A (p.Leu116Ile)
c.325C>A (p.Leu109Ile)
n.346C>A
c.517C>A (p.Leu173Ile)
1g.43338675C>GCA339973846MPLc.346C>G (p.Leu116Val)
c.325C>G (p.Leu109Val)
n.346C>G
c.517C>G (p.Leu173Val)
 gnomAD v4
1g.43338675C>TCA417417719MPLc.346C>T (p.Leu116=)
c.325C>T (p.Leu109=)
n.346C>T
c.517C>T (p.Leu173=)
1g.43338676T>ACA339973850MPLc.347T>A (p.Leu116Gln)
c.326T>A (p.Leu109Gln)
n.347T>A
c.518T>A (p.Leu173Gln)
1g.43338676T>CCA339973853MPLc.347T>C (p.Leu116Pro)
c.326T>C (p.Leu109Pro)
n.347T>C
c.518T>C (p.Leu173Pro)
1g.43338676T>GCA339973856MPLc.347T>G (p.Leu116Arg)
c.326T>G (p.Leu109Arg)
n.347T>G
c.518T>G (p.Leu173Arg)
 gnomAD v4
1g.43338677A>CCA417417731MPLc.348A>C (p.Leu116=)
c.327A>C (p.Leu109=)
n.348A>C
c.519A>C (p.Leu173=)
1g.43338677A>GCA417417733MPLc.348A>G (p.Leu116=)
c.327A>G (p.Leu109=)
n.348A>G
c.519A>G (p.Leu173=)
1g.43338677A>TCA417417737MPLc.348A>T (p.Leu116=)
c.327A>T (p.Leu109=)
n.348A>T
c.519A>T (p.Leu173=)
1g.43338678A>CCA339973858MPLc.349A>C (p.Asn117His)
c.328A>C (p.Asn110His)
n.349A>C
c.520A>C (p.Asn174His)
1g.43338678A>GCA339973863MPLc.349A>G (p.Asn117Asp)
c.328A>G (p.Asn110Asp)
n.349A>G
c.520A>G (p.Asn174Asp)
1g.43338678A>TCA339973860MPLc.349A>T (p.Asn117Tyr)
c.328A>T (p.Asn110Tyr)
n.349A>T
c.520A>T (p.Asn174Tyr)
1g.43338679A>CCA339973867MPLc.350A>C (p.Asn117Thr)
c.329A>C (p.Asn110Thr)
n.350A>C
c.521A>C (p.Asn174Thr)
1g.43338679A>GCA339973868MPLc.350A>G (p.Asn117Ser)
c.329A>G (p.Asn110Ser)
n.350A>G
c.521A>G (p.Asn174Ser)
1g.43338679A>TCA339973873MPLc.350A>T (p.Asn117Ile)
c.329A>T (p.Asn110Ile)
n.350A>T
c.521A>T (p.Asn174Ile)
1g.43338680C>ACA339973875MPLc.351C>A (p.Asn117Lys)
c.330C>A (p.Asn110Lys)
n.351C>A
c.522C>A (p.Asn174Lys)
1g.43338680C>GCA339973877MPLc.351C>G (p.Asn117Lys)
c.330C>G (p.Asn110Lys)
n.351C>G
c.522C>G (p.Asn174Lys)
1g.43338680C>TCA417417759MPLc.351C>T (p.Asn117=)
c.330C>T (p.Asn110=)
n.351C>T
c.522C>T (p.Asn174=)
 gnomAD v4
1g.43338680_43338681insTGTCTCTTATACA2580062794MPLc.351_352insTGTCTCTTATA (p.Gln118CysfsTer17)
c.330_331insTGTCTCTTATA (p.Gln111CysfsTer17)
n.351_352insTGTCTCTTATA
c.522_523insTGTCTCTTATA (p.Gln175CysfsTer17)
 ClinVar
1g.43338681C>ACA339973879MPLc.352C>A (p.Gln118Lys)
c.331C>A (p.Gln111Lys)
n.352C>A
c.523C>A (p.Gln175Lys)
1g.43338681C=CA1165576094MPLc.352C= (p.Gln118=)
c.331C= (p.Gln111=)
n.352C=
c.523C= (p.Gln175=)
1g.43338681C>GCA339973883MPLc.352C>G (p.Gln118Glu)
c.331C>G (p.Gln111Glu)
n.352C>G
c.523C>G (p.Gln175Glu)
 dbSNP
1g.43338681C>TCA339973887MPLc.352C>T (p.Gln118Ter)
c.331C>T (p.Gln111Ter)
n.352C>T
c.523C>T (p.Gln175Ter)
1g.43338682A>CCA339973892MPLc.353A>C (p.Gln118Pro)
c.332A>C (p.Gln111Pro)
n.353A>C
c.524A>C (p.Gln175Pro)
1g.43338682A>GCA339973893MPLc.353A>G (p.Gln118Arg)
c.332A>G (p.Gln111Arg)
n.353A>G
c.524A>G (p.Gln175Arg)
1g.43338682A>TCA339973894MPLc.353A>T (p.Gln118Leu)
c.332A>T (p.Gln111Leu)
n.353A>T
c.524A>T (p.Gln175Leu)
1g.43338683G>ACA417417778MPLc.354G>A (p.Gln118=)
c.333G>A (p.Gln111=)
n.354G>A
c.525G>A (p.Gln175=)
1g.43338683G>CCA806639MPLc.354G>C (p.Gln118His)
c.333G>C (p.Gln111His)
n.354G>C
c.525G>C (p.Gln175His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338683G=CA1165576095MPLc.354G= (p.Gln118=)
c.333G= (p.Gln111=)
n.354G=
c.525G= (p.Gln175=)
1g.43338683G>TCA339973895MPLc.354G>T (p.Gln118His)
c.333G>T (p.Gln111His)
n.354G>T
c.525G>T (p.Gln175His)
 gnomAD v4
1g.43338684A>CCA339973897MPLc.355A>C (p.Thr119Pro)
c.334A>C (p.Thr112Pro)
n.355A>C
c.526A>C (p.Thr176Pro)
1g.43338684A>GCA339973899MPLc.355A>G (p.Thr119Ala)
c.334A>G (p.Thr112Ala)
n.355A>G
c.526A>G (p.Thr176Ala)
1g.43338684A>TCA339973901MPLc.355A>T (p.Thr119Ser)
c.334A>T (p.Thr112Ser)
n.355A>T
c.526A>T (p.Thr176Ser)
1g.43338685C>ACA339973905MPLc.356C>A (p.Thr119Asn)
c.335C>A (p.Thr112Asn)
n.356C>A
c.527C>A (p.Thr176Asn)
1g.43338685C>GCA339973908MPLc.356C>G (p.Thr119Ser)
c.335C>G (p.Thr112Ser)
n.356C>G
c.527C>G (p.Thr176Ser)
1g.43338685C>TCA339973910MPLc.356C>T (p.Thr119Ile)
c.335C>T (p.Thr112Ile)
n.356C>T
c.527C>T (p.Thr176Ile)
 gnomAD v4 COSMIC
1g.43338686T>ACA417417795MPLc.357T>A (p.Thr119=)
c.336T>A (p.Thr112=)
n.357T>A
c.528T>A (p.Thr176=)
 dbSNP
1g.43338686T>CCA417417799MPLc.357T>C (p.Thr119=)
c.336T>C (p.Thr112=)
n.357T>C
c.528T>C (p.Thr176=)
1g.43338686T>GCA417417814MPLc.357T>G (p.Thr119=)
c.336T>G (p.Thr112=)
n.357T>G
c.528T>G (p.Thr176=)
1g.43338687C>ACA417417818MPLc.358C>A (p.Arg120=)
c.337C>A (p.Arg113=)
n.358C>A
c.529C>A (p.Arg177=)
1g.43338687C=CA1165576096MPLc.358C= (p.Arg120=)
c.337C= (p.Arg113=)
n.358C=
c.529C= (p.Arg177=)
1g.43338687C>GCA339973918MPLc.358C>G (p.Arg120Gly)
c.337C>G (p.Arg113Gly)
n.358C>G
c.529C>G (p.Arg177Gly)
 gnomAD v4
1g.43338687C>TCA339973913MPLc.358C>T (p.Arg120Trp)
c.337C>T (p.Arg113Trp)
n.358C>T
c.529C>T (p.Arg177Trp)
 ClinVar dbSNP gnomAD v4
1g.43338688G>ACA806640MPLc.359G>A (p.Arg120Gln)
c.338G>A (p.Arg113Gln)
n.359G>A
c.530G>A (p.Arg177Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338688G>CCA339973925MPLc.359G>C (p.Arg120Pro)
c.338G>C (p.Arg113Pro)
n.359G>C
c.530G>C (p.Arg177Pro)
1g.43338688G=CA1149113696MPLc.359G= (p.Arg120=)
c.338G= (p.Arg113=)
n.359G=
c.530G= (p.Arg177=)
1g.43338688G>TCA339973927MPLc.359G>T (p.Arg120Leu)
c.338G>T (p.Arg113Leu)
n.359G>T
c.530G>T (p.Arg177Leu)
1g.43338689G>ACA417417825MPLc.360G>A (p.Arg120=)
c.339G>A (p.Arg113=)
n.360G>A
c.531G>A (p.Arg177=)
1g.43338689G>CCA417417826MPLc.360G>C (p.Arg120=)
c.339G>C (p.Arg113=)
n.360G>C
c.531G>C (p.Arg177=)
 dbSNP
1g.43338689G>TCA417417828MPLc.360G>T (p.Arg120=)
c.339G>T (p.Arg113=)
n.360G>T
c.531G>T (p.Arg177=)
1g.43338690A=CA1165576097MPLc.361A= (p.Thr121=)
c.340A= (p.Thr114=)
n.361A=
c.532A= (p.Thr178=)
1g.43338690A>CCA339973930MPLc.361A>C (p.Thr121Pro)
c.340A>C (p.Thr114Pro)
n.361A>C
c.532A>C (p.Thr178Pro)
1g.43338690A>GCA339973933MPLc.361A>G (p.Thr121Ala)
c.340A>G (p.Thr114Ala)
n.361A>G
c.532A>G (p.Thr178Ala)
 dbSNP
1g.43338690A>TCA339973936MPLc.361A>T (p.Thr121Ser)
c.340A>T (p.Thr114Ser)
n.361A>T
c.532A>T (p.Thr178Ser)
1g.43338691C>ACA339973940MPLc.362C>A (p.Thr121Asn)
c.341C>A (p.Thr114Asn)
n.362C>A
c.533C>A (p.Thr178Asn)
1g.43338691C>GCA339973945MPLc.362C>G (p.Thr121Ser)
c.341C>G (p.Thr114Ser)
n.362C>G
c.533C>G (p.Thr178Ser)
1g.43338691C>TCA339973942MPLc.362C>T (p.Thr121Ile)
c.341C>T (p.Thr114Ile)
n.362C>T
c.533C>T (p.Thr178Ile)
1g.43338692T>ACA417417851MPLc.363T>A (p.Thr121=)
c.342T>A (p.Thr114=)
n.363T>A
c.534T>A (p.Thr178=)
 dbSNP
1g.43338692T>CCA417417853MPLc.363T>C (p.Thr121=)
c.342T>C (p.Thr114=)
n.363T>C
c.534T>C (p.Thr178=)
1g.43338692T>GCA417417856MPLc.363T>G (p.Thr121=)
c.342T>G (p.Thr114=)
n.363T>G
c.534T>G (p.Thr178=)
1g.43338693C>ACA339973957MPLc.364C>A (p.Gln122Lys)
c.343C>A (p.Gln115Lys)
n.364C>A
c.535C>A (p.Gln179Lys)
1g.43338693C>GCA339973960MPLc.364C>G (p.Gln122Glu)
c.343C>G (p.Gln115Glu)
n.364C>G
c.535C>G (p.Gln179Glu)
 dbSNP
1g.43338693C>TCA339973963MPLc.364C>T (p.Gln122Ter)
c.343C>T (p.Gln115Ter)
n.364C>T
c.535C>T (p.Gln179Ter)
1g.43338694A>CCA339973967MPLc.365A>C (p.Gln122Pro)
c.344A>C (p.Gln115Pro)
n.365A>C
c.536A>C (p.Gln179Pro)
1g.43338694A>GCA339973968MPLc.365A>G (p.Gln122Arg)
c.344A>G (p.Gln115Arg)
n.365A>G
c.536A>G (p.Gln179Arg)
1g.43338694A>TCA339973969MPLc.365A>T (p.Gln122Leu)
c.344A>T (p.Gln115Leu)
n.365A>T
c.536A>T (p.Gln179Leu)
1g.43338694_43338695delinsTCA2580062796MPLc.365_366delinsT (p.Gln122LeufsTer9)
c.344_345delinsT (p.Gln115LeufsTer9)
n.365_366delinsT
c.536_537delinsT (p.Gln179LeufsTer9)
 ClinVar
1g.43338695G>ACA417417880MPLc.366G>A (p.Gln122=)
c.345G>A (p.Gln115=)
n.366G>A
c.537G>A (p.Gln179=)
 ClinVar dbSNP COSMIC
1g.43338695G>CCA339973970MPLc.366G>C (p.Gln122His)
c.345G>C (p.Gln115His)
n.366G>C
c.537G>C (p.Gln179His)
1g.43338695G>TCA339973973MPLc.366G>T (p.Gln122His)
c.345G>T (p.Gln115His)
n.366G>T
c.537G>T (p.Gln179His)
 gnomAD v4
1g.43338696C>ACA417417887MPLc.367C>A (p.Arg123=)
c.346C>A (p.Arg116=)
n.367C>A
c.538C>A (p.Arg180=)
 ClinVar dbSNP gnomAD v4
1g.43338696C=CA1165576098MPLc.367C= (p.Arg123=)
c.346C= (p.Arg116=)
n.367C=
c.538C= (p.Arg180=)
1g.43338696C>GCA339973976MPLc.367C>G (p.Arg123Gly)
c.346C>G (p.Arg116Gly)
n.367C>G
c.538C>G (p.Arg180Gly)
 gnomAD v4
1g.43338696C>TCA339973978MPLc.367C>T (p.Arg123Ter)
c.346C>T (p.Arg116Ter)
n.367C>T
c.538C>T (p.Arg180Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.43338697G>ACA806641MPLc.368G>A (p.Arg123Gln)
c.347G>A (p.Arg116Gln)
n.368G>A
c.539G>A (p.Arg180Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338697G>CCA339973985MPLc.368G>C (p.Arg123Pro)
c.347G>C (p.Arg116Pro)
n.368G>C
c.539G>C (p.Arg180Pro)
1g.43338697G=CA1165576099MPLc.368G= (p.Arg123=)
c.347G= (p.Arg116=)
n.368G=
c.539G= (p.Arg180=)
1g.43338697G>TCA339973983MPLc.368G>T (p.Arg123Leu)
c.347G>T (p.Arg116Leu)
n.368G>T
c.539G>T (p.Arg180Leu)
 dbSNP
1g.43338698A>CCA417417900MPLc.369A>C (p.Arg123=)
c.348A>C (p.Arg116=)
n.369A>C
c.540A>C (p.Arg180=)
1g.43338698A>GCA417417902MPLc.369A>G (p.Arg123=)
c.348A>G (p.Arg116=)
n.369A>G
c.540A>G (p.Arg180=)
1g.43338698A>TCA417417905MPLc.369A>T (p.Arg123=)
c.348A>T (p.Arg116=)
n.369A>T
c.540A>T (p.Arg180=)
 dbSNP
1g.43338699G>ACA339973988MPLc.370G>A (p.Val124Ile)
c.349G>A (p.Val117Ile)
n.370G>A
c.541G>A (p.Val181Ile)
1g.43338699G>CCA806642MPLc.370G>C (p.Val124Leu)
c.349G>C (p.Val117Leu)
n.370G>C
c.541G>C (p.Val181Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43338699G=CA1165576100MPLc.370G= (p.Val124=)
c.349G= (p.Val117=)
n.370G=
c.541G= (p.Val181=)
1g.43338699G>TCA339973991MPLc.370G>T (p.Val124Phe)
c.349G>T (p.Val117Phe)
n.370G>T
c.541G>T (p.Val181Phe)
1g.43338700T>ACA339973995MPLc.371T>A (p.Val124Asp)
c.350T>A (p.Val117Asp)
n.371T>A
c.542T>A (p.Val181Asp)
1g.43338700T>CCA339973997MPLc.371T>C (p.Val124Ala)
c.350T>C (p.Val117Ala)
n.371T>C
c.542T>C (p.Val181Ala)
1g.43338700T>GCA339973999MPLc.371T>G (p.Val124Gly)
c.350T>G (p.Val117Gly)
n.371T>G
c.542T>G (p.Val181Gly)
1g.43338701C>ACA417417922MPLc.372C>A (p.Val124=)
c.351C>A (p.Val117=)
n.372C>A
c.543C>A (p.Val181=)
 gnomAD v4
1g.43338701C>GCA417417923MPLc.372C>G (p.Val124=)
c.351C>G (p.Val117=)
n.372C>G
c.543C>G (p.Val181=)
1g.43338701C>TCA417417924MPLc.372C>T (p.Val124=)
c.351C>T (p.Val117=)
n.372C>T
c.543C>T (p.Val181=)
1g.43338702C>ACA339974002MPLc.373C>A (p.Leu125Ile)
c.352C>A (p.Leu118Ile)
n.373C>A
c.544C>A (p.Leu182Ile)
1g.43338702C>GCA339974003MPLc.373C>G (p.Leu125Val)
c.352C>G (p.Leu118Val)
n.373C>G
c.544C>G (p.Leu182Val)
1g.43338702C>TCA339974005MPLc.373C>T (p.Leu125Phe)
c.352C>T (p.Leu118Phe)
n.373C>T
c.544C>T (p.Leu182Phe)
1g.43338702_43338703delinsCTCA1165576101MPLc.373_374delinsCT (p.Leu125=)
c.352_353delinsCT (p.Leu118=)
n.373_374delinsCT
c.544_545delinsCT (p.Leu182=)
1g.43338703delCA916162774MPLc.374del (p.Leu125ProfsTer6)
c.353del (p.Leu118ProfsTer6)
n.374del
c.545del (p.Leu182ProfsTer6)
 dbSNP
1g.43338703T>ACA339974014MPLc.374T>A (p.Leu125His)
c.353T>A (p.Leu118His)
n.374T>A
c.545T>A (p.Leu182His)
1g.43338703T>CCA806643MPLc.374T>C (p.Leu125Pro)
c.353T>C (p.Leu118Pro)
n.374T>C
c.545T>C (p.Leu182Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43338703T>GCA339974012MPLc.374T>G (p.Leu125Arg)
c.353T>G (p.Leu118Arg)
n.374T>G
c.545T>G (p.Leu182Arg)
1g.43338703T=CA1165576102MPLc.374T= (p.Leu125=)
c.353T= (p.Leu118=)
n.374T=
c.545T= (p.Leu182=)
1g.43338704C>ACA417417942MPLc.375C>A (p.Leu125=)
c.354C>A (p.Leu118=)
n.375C>A
c.546C>A (p.Leu182=)
1g.43338704C>GCA417417944MPLc.375C>G (p.Leu125=)
c.354C>G (p.Leu118=)
n.375C>G
c.546C>G (p.Leu182=)
 dbSNP
1g.43338704C>TCA417417947MPLc.375C>T (p.Leu125=)
c.354C>T (p.Leu118=)
n.375C>T
c.546C>T (p.Leu182=)
1g.43338704_43338705delinsCTCA1165576103MPLc.375_376delinsCT (p.Leu125=)
c.354_355delinsCT (p.Leu118=)
n.375_376delinsCT
c.546_547delinsCT (p.Leu182=)
1g.43338705T>ACA339974024MPLc.376T>A (p.Phe126Ile)
c.355T>A (p.Phe119Ile)
n.376T>A
c.547T>A (p.Phe183Ile)
1g.43338705T>CCA339974028MPLc.376T>C (p.Phe126Leu)
c.355T>C (p.Phe119Leu)
n.376T>C
c.547T>C (p.Phe183Leu)
1g.43338705T>GCA339974031MPLc.376T>G (p.Phe126Val)
c.355T>G (p.Phe119Val)
n.376T>G
c.547T>G (p.Phe183Val)
1g.43338705_43338707delinsTTTCA1148224238MPLc.376_378delinsTTT (p.Phe126=)
c.355_357delinsTTT (p.Phe119=)
n.376_378delinsTTT
c.547_549delinsTTT (p.Phe183=)
1g.43338707dupCA1165576104MPLc.378dup (p.Val127CysfsTer?)
c.357dup (p.Val120CysfsTer?)
n.378dup
c.549dup (p.Val184CysfsTer?)
 dbSNP
1g.43338707delCA160817MPLc.378del (p.Phe126LeufsTer5)
c.357del (p.Phe119LeufsTer5)
n.378del
c.549del (p.Phe183LeufsTer5)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338706T>ACA339974040MPLc.377T>A (p.Phe126Tyr)
c.356T>A (p.Phe119Tyr)
n.377T>A
c.548T>A (p.Phe183Tyr)
1g.43338706T>CCA339974038MPLc.377T>C (p.Phe126Ser)
c.356T>C (p.Phe119Ser)
n.377T>C
c.548T>C (p.Phe183Ser)
1g.43338706T>GCA339974036MPLc.377T>G (p.Phe126Cys)
c.356T>G (p.Phe119Cys)
n.377T>G
c.548T>G (p.Phe183Cys)
1g.43338707T>ACA339974044MPLc.378T>A (p.Phe126Leu)
c.357T>A (p.Phe119Leu)
n.378T>A
c.549T>A (p.Phe183Leu)
1g.43338707T>CCA417417977MPLc.378T>C (p.Phe126=)
c.357T>C (p.Phe119=)
n.378T>C
c.549T>C (p.Phe183=)
1g.43338707T>GCA339974046MPLc.378T>G (p.Phe126Leu)
c.357T>G (p.Phe119Leu)
n.378T>G
c.549T>G (p.Phe183Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.43338707T=CA1165576105MPLc.378T= (p.Phe126=)
c.357T= (p.Phe119=)
n.378T=
c.549T= (p.Phe183=)
1g.43338708G>ACA339974050MPLc.379G>A (p.Val127Met)
c.358G>A (p.Val120Met)
n.379G>A
c.550G>A (p.Val184Met)
1g.43338708G>CCA339974053MPLc.379G>C (p.Val127Leu)
c.358G>C (p.Val120Leu)
n.379G>C
c.550G>C (p.Val184Leu)
1g.43338708G>TCA339974056MPLc.379G>T (p.Val127Leu)
c.358G>T (p.Val120Leu)
n.379G>T
c.550G>T (p.Val184Leu)
1g.43338709T>ACA339974059MPLc.380T>A (p.Val127Glu)
c.359T>A (p.Val120Glu)
n.380T>A
c.551T>A (p.Val184Glu)
1g.43338709T>CCA339974062MPLc.380T>C (p.Val127Ala)
c.359T>C (p.Val120Ala)
n.380T>C
c.551T>C (p.Val184Ala)
1g.43338709T>GCA339974064MPLc.380T>G (p.Val127Gly)
c.359T>G (p.Val120Gly)
n.380T>G
c.551T>G (p.Val184Gly)
1g.43338710G>ACA417417995MPLc.381G>A (p.Val127=)
c.360G>A (p.Val120=)
n.381G>A
c.552G>A (p.Val184=)
1g.43338710G>CCA417417997MPLc.381G>C (p.Val127=)
c.360G>C (p.Val120=)
n.381G>C
c.552G>C (p.Val184=)
1g.43338710G>TCA417418000MPLc.381G>T (p.Val127=)
c.360G>T (p.Val120=)
n.381G>T
c.552G>T (p.Val184=)
 gnomAD v4
1g.43338711G>ACA339974070MPLc.382G>A (p.Asp128Asn)
c.361G>A (p.Asp121Asn)
n.382G>A
c.553G>A (p.Asp185Asn)
 dbSNP
1g.43338711G>CCA339974073MPLc.382G>C (p.Asp128His)
c.361G>C (p.Asp121His)
n.382G>C
c.553G>C (p.Asp185His)
1g.43338711G=CA1143460260MPLc.382G= (p.Asp128=)
c.361G= (p.Asp121=)
n.382G=
c.553G= (p.Asp185=)
1g.43338711G>TCA806644MPLc.382G>T (p.Asp128Tyr)
c.361G>T (p.Asp121Tyr)
n.382G>T
c.553G>T (p.Asp185Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338712A>CCA339974078MPLc.383A>C (p.Asp128Ala)
c.362A>C (p.Asp121Ala)
n.383A>C
c.554A>C (p.Asp185Ala)
1g.43338712A>GCA339974085MPLc.383A>G (p.Asp128Gly)
c.362A>G (p.Asp121Gly)
n.383A>G
c.554A>G (p.Asp185Gly)
1g.43338712A>TCA339974081MPLc.383A>T (p.Asp128Val)
c.362A>T (p.Asp121Val)
n.383A>T
c.554A>T (p.Asp185Val)
1g.43338713C>ACA339974089MPLc.384C>A (p.Asp128Glu)
c.363C>A (p.Asp121Glu)
n.384C>A
c.555C>A (p.Asp185Glu)
1g.43338713C>GCA339974091MPLc.384C>G (p.Asp128Glu)
c.363C>G (p.Asp121Glu)
n.384C>G
c.555C>G (p.Asp185Glu)
 gnomAD v4
1g.43338713C>TCA417418021MPLc.384C>T (p.Asp128=)
c.363C>T (p.Asp121=)
n.384C>T
c.555C>T (p.Asp185=)
1g.43338714A>CCA339974099MPLc.385A>C (p.Ser129Arg)
c.364A>C (p.Ser122Arg)
n.385A>C
c.556A>C (p.Ser186Arg)
1g.43338714A>GCA339974101MPLc.385A>G (p.Ser129Gly)
c.364A>G (p.Ser122Gly)
n.385A>G
c.556A>G (p.Ser186Gly)
1g.43338714A>TCA339974102MPLc.385A>T (p.Ser129Cys)
c.364A>T (p.Ser122Cys)
n.385A>T
c.556A>T (p.Ser186Cys)
1g.43338715G>ACA339974106MPLc.386G>A (p.Ser129Asn)
c.365G>A (p.Ser122Asn)
n.386G>A
c.557G>A (p.Ser186Asn)
 dbSNP
1g.43338715G>CCA339974109MPLc.386G>C (p.Ser129Thr)
c.365G>C (p.Ser122Thr)
n.386G>C
c.557G>C (p.Ser186Thr)
 gnomAD v4
1g.43338715G>TCA339974111MPLc.386G>T (p.Ser129Ile)
c.365G>T (p.Ser122Ile)
n.386G>T
c.557G>T (p.Ser186Ile)
1g.43338717_43338718delCA2740090653MPLc.388_389del (p.Val130ArgfsTer?)
c.367_368del (p.Val123ArgfsTer?)
n.388_389del
c.559_560del (p.Val187ArgfsTer?)
 ClinVar
1g.43338716T>ACA339974114MPLc.387T>A (p.Ser129Arg)
c.366T>A (p.Ser122Arg)
n.387T>A
c.558T>A (p.Ser186Arg)
1g.43338716T>CCA417418049MPLc.387T>C (p.Ser129=)
c.366T>C (p.Ser122=)
n.387T>C
c.558T>C (p.Ser186=)
 dbSNP gnomAD v2 gnomAD v4
1g.43338716T>GCA339974116MPLc.387T>G (p.Ser129Arg)
c.366T>G (p.Ser122Arg)
n.387T>G
c.558T>G (p.Ser186Arg)
1g.43338716T=CA1165576106MPLc.387T= (p.Ser129=)
c.366T= (p.Ser122=)
n.387T=
c.558T= (p.Ser186=)
1g.43338717G>ACA339974119MPLc.388G>A (p.Val130Ile)
c.367G>A (p.Val123Ile)
n.388G>A
c.559G>A (p.Val187Ile)
 dbSNP
1g.43338717G>CCA339974121MPLc.388G>C (p.Val130Leu)
c.367G>C (p.Val123Leu)
n.388G>C
c.559G>C (p.Val187Leu)
1g.43338717G>TCA339974123MPLc.388G>T (p.Val130Leu)
c.367G>T (p.Val123Leu)
n.388G>T
c.559G>T (p.Val187Leu)
1g.43338718T>ACA339974126MPLc.389T>A (p.Val130Glu)
c.368T>A (p.Val123Glu)
n.389T>A
c.560T>A (p.Val187Glu)
1g.43338718T>CCA339974130MPLc.389T>C (p.Val130Ala)
c.368T>C (p.Val123Ala)
n.389T>C
c.560T>C (p.Val187Ala)
1g.43338718T>GCA339974129MPLc.389T>G (p.Val130Gly)
c.368T>G (p.Val123Gly)
n.389T>G
c.560T>G (p.Val187Gly)
1g.43338719A=CA1165576107MPLc.390A= (p.Val130=)
c.369A= (p.Val123=)
n.390A=
c.561A= (p.Val187=)
1g.43338719A>CCA417418062MPLc.390A>C (p.Val130=)
c.369A>C (p.Val123=)
n.390A>C
c.561A>C (p.Val187=)
1g.43338719A>GCA417418064MPLc.390A>G (p.Val130=)
c.369A>G (p.Val123=)
n.390A>G
c.561A>G (p.Val187=)
1g.43338719A>TCA417418067MPLc.390A>T (p.Val130=)
c.369A>T (p.Val123=)
n.390A>T
c.561A>T (p.Val187=)
 dbSNP
1g.43338720G>ACA339974135MPLc.391G>A (p.Gly131Ser)
c.370G>A (p.Gly124Ser)
n.391G>A
c.562G>A (p.Gly188Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43338720G>CCA806645MPLc.391G>C (p.Gly131Arg)
c.370G>C (p.Gly124Arg)
n.391G>C
c.562G>C (p.Gly188Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43338720G=CA1165576108MPLc.391G= (p.Gly131=)
c.370G= (p.Gly124=)
n.391G=
c.562G= (p.Gly188=)
1g.43338720G>TCA339974139MPLc.391G>T (p.Gly131Cys)
c.370G>T (p.Gly124Cys)
n.391G>T
c.562G>T (p.Gly188Cys)
1g.43338721G>ACA339974145MPLc.391+1G>A (n.391+1G>A)
c.370+1G>A (n.370+1G>A)
n.391+1G>A
c.562+1G>A (n.562+1G>A)
 dbSNP
1g.43338721G>CCA339974150MPLc.391+1G>C (n.391+1G>C)
c.370+1G>C (n.370+1G>C)
n.391+1G>C
c.562+1G>C (n.562+1G>C)
1g.43338721G>TCA339974153MPLc.391+1G>T (n.391+1G>T)
c.370+1G>T (n.370+1G>T)
n.391+1G>T
c.562+1G>T (n.562+1G>T)
1g.43338722T>ACA339974156MPLc.391+2T>A (n.391+2T>A)
c.370+2T>A (n.370+2T>A)
n.391+2T>A
c.562+2T>A (n.562+2T>A)
1g.43338722T>CCA339974159MPLc.391+2T>C (n.391+2T>C)
c.370+2T>C (n.370+2T>C)
n.391+2T>C
c.562+2T>C (n.562+2T>C)
1g.43338722T>GCA339974161MPLc.391+2T>G (n.391+2T>G)
c.370+2T>G (n.370+2T>G)
n.391+2T>G
c.562+2T>G (n.562+2T>G)
 dbSNP
1g.43338722T=CA1165576109MPLc.391+2T= (n.391+2T=)
c.370+2T= (n.370+2T=)
n.391+2T=
c.562+2T= (n.562+2T=)
1g.43338723_43338726dupCA2645222460MPLc.391+3_391+6dup (n.391+3_391+6dup)
c.370+3_370+6dup (n.370+3_370+6dup)
n.391+3_391+6dup
c.562+3_562+6dup (n.562+3_562+6dup)
 gnomAD v4
1g.43338725G>CCA806646MPLc.391+5G>C (n.391+5G>C)
c.370+5G>C (n.370+5G>C)
n.391+5G>C
c.562+5G>C (n.562+5G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338725G=CA1165576110MPLc.391+5G= (n.391+5G=)
c.370+5G= (n.370+5G=)
n.391+5G=
c.562+5G= (n.562+5G=)
1g.43338727G>ACA806647MPLc.391+7G>A (n.391+7G>A)
c.370+7G>A (n.370+7G>A)
n.391+7G>A
c.562+7G>A (n.562+7G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338727G=CA1143501810MPLc.391+7G= (n.391+7G=)
c.370+7G= (n.370+7G=)
n.391+7G=
c.562+7G= (n.562+7G=)
1g.43338728C>TCA2645222473MPLc.391+8C>T (n.391+8C>T)
c.370+8C>T (n.370+8C>T)
n.391+8C>T
c.562+8C>T (n.562+8C>T)
 gnomAD v4
1g.43338730A>CCA2695806983MPLc.391+10A>C (n.391+10A>C)
c.370+10A>C (n.370+10A>C)
n.391+10A>C
c.562+10A>C (n.562+10A>C)
 dbSNP
1g.43338732C>TCA2645222475MPLc.391+12C>T (n.391+12C>T)
c.370+12C>T (n.370+12C>T)
n.391+12C>T
c.562+12C>T (n.562+12C>T)
 gnomAD v4
1g.43338733C>ACA2645222478MPLc.391+13C>A (n.391+13C>A)
c.370+13C>A (n.370+13C>A)
n.391+13C>A
c.562+13C>A (n.562+13C>A)
 gnomAD v4
1g.43338733C=CA1165576111MPLc.391+13C= (n.391+13C=)
c.370+13C= (n.370+13C=)
n.391+13C=
c.562+13C= (n.562+13C=)
1g.43338733C>TCA806648MPLc.391+13C>T (n.391+13C>T)
c.370+13C>T (n.370+13C>T)
n.391+13C>T
c.562+13C>T (n.562+13C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338735C>ACA2571238222MPLc.391+15C>A (n.391+15C>A)
c.370+15C>A (n.370+15C>A)
n.391+15C>A
c.562+15C>A (n.562+15C>A)
1g.43338735C>TCA2645222482MPLc.391+15C>T (n.391+15C>T)
c.370+15C>T (n.370+15C>T)
n.391+15C>T
c.562+15C>T (n.562+15C>T)
 gnomAD v4
1g.43338736C>GCA2645222483MPLc.391+16C>G (n.391+16C>G)
c.370+16C>G (n.370+16C>G)
n.391+16C>G
c.562+16C>G (n.562+16C>G)
 gnomAD v4
1g.43338737T>CCA2645222485MPLc.391+17T>C (n.391+17T>C)
c.370+17T>C (n.370+17T>C)
n.391+17T>C
c.562+17T>C (n.562+17T>C)
 gnomAD v4
1g.43338738G>ACA806649MPLc.391+18G>A (n.391+18G>A)
c.370+18G>A (n.370+18G>A)
n.391+18G>A
c.562+18G>A (n.562+18G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.43338738G>CCA2695534443MPLc.391+18G>C (n.391+18G>C)
c.370+18G>C (n.370+18G>C)
n.391+18G>C
c.562+18G>C (n.562+18G>C)
 dbSNP
1g.43338738G=CA1165576112MPLc.391+18G= (n.391+18G=)
c.370+18G= (n.370+18G=)
n.391+18G=
c.562+18G= (n.562+18G=)
1g.43338738G>TCA1139768749MPLc.391+18G>T (n.391+18G>T)
c.370+18G>T (n.370+18G>T)
n.391+18G>T
c.562+18G>T (n.562+18G>T)
1g.43338739T>CCA2740090654MPLc.391+19T>C (n.391+19T>C)
c.370+19T>C (n.370+19T>C)
n.391+19T>C
c.562+19T>C (n.562+19T>C)
 ClinVar
1g.43338739T>GCA2645222491MPLc.391+19T>G (n.391+19T>G)
c.370+19T>G (n.370+19T>G)
n.391+19T>G
c.562+19T>G (n.562+19T>G)
 ClinVar gnomAD v4
1g.43338741A=CA1165576113MPLc.391+21A= (n.391+21A=)
c.370+21A= (n.370+21A=)
n.391+21A=
c.562+21A= (n.562+21A=)
1g.43338741A>CCA1165576114MPLc.391+21A>C (n.391+21A>C)
c.370+21A>C (n.370+21A>C)
n.391+21A>C
c.562+21A>C (n.562+21A>C)
 dbSNP
1g.43338742C=CA1165576115MPLc.391+22C= (n.391+22C=)
c.370+22C= (n.370+22C=)
n.391+22C=
c.562+22C= (n.562+22C=)
1g.43338742C>TCA1165576116MPLc.391+22C>T (n.391+22C>T)
c.370+22C>T (n.370+22C>T)
n.391+22C>T
c.562+22C>T (n.562+22C>T)
 dbSNP
1g.43338743C>TCA2743377648MPLc.391+23C>T (n.391+23C>T)
c.370+23C>T (n.370+23C>T)
n.391+23C>T
c.562+23C>T (n.562+23C>T)
1g.43338744C>TCA2645222495MPLc.391+24C>T (n.391+24C>T)
c.370+24C>T (n.370+24C>T)
n.391+24C>T
c.562+24C>T (n.562+24C>T)
 gnomAD v4
1g.43338752_43338767delCA2645222493MPLc.391+32_391+47del (n.391+32_391+47del)
c.370+32_370+47del (n.370+32_370+47del)
n.391+32_391+47del
c.562+32_562+47del (n.562+32_562+47del)
 gnomAD v4
1g.43338746G>ACA2695806985MPLc.391+26G>A (n.391+26G>A)
c.370+26G>A (n.370+26G>A)
n.391+26G>A
c.562+26G>A (n.562+26G>A)
 dbSNP
1g.43338746G>CCA2695807008MPLc.391+26G>C (n.391+26G>C)
c.370+26G>C (n.370+26G>C)
n.391+26G>C
c.562+26G>C (n.562+26G>C)
 dbSNP
1g.43338747C=CA1165576117MPLc.391+27C= (n.391+27C=)
c.370+27C= (n.370+27C=)
n.391+27C=
c.562+27C= (n.562+27C=)
1g.43338747C>GCA806650MPLc.391+27C>G (n.391+27C>G)
c.370+27C>G (n.370+27C>G)
n.391+27C>G
c.562+27C>G (n.562+27C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43338747C>TCA806651MPLc.391+27C>T (n.391+27C>T)
c.370+27C>T (n.370+27C>T)
n.391+27C>T
c.562+27C>T (n.562+27C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43338748C>TCA2695807013MPLc.391+28C>T (n.391+28C>T)
c.370+28C>T (n.370+28C>T)
n.391+28C>T
c.562+28C>T (n.562+28C>T)
 dbSNP
1g.43338749C=CA1146189915MPLc.391+29C= (n.391+29C=)
c.370+29C= (n.370+29C=)
n.391+29C=
c.562+29C= (n.562+29C=)
1g.43338749C>TCA806652MPLc.391+29C>T (n.391+29C>T)
c.370+29C>T (n.370+29C>T)
n.391+29C>T
c.562+29C>T (n.562+29C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338750C=CA1165576118MPLc.391+30C= (n.391+30C=)
c.370+30C= (n.370+30C=)
n.391+30C=
c.562+30C= (n.562+30C=)
1g.43338750C>GCA806653MPLc.391+30C>G (n.391+30C>G)
c.370+30C>G (n.370+30C>G)
n.391+30C>G
c.562+30C>G (n.562+30C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338750C>TCA1001097517MPLc.391+30C>T (n.391+30C>T)
c.370+30C>T (n.370+30C>T)
n.391+30C>T
c.562+30C>T (n.562+30C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.43338751C>ACA2695807030MPLc.391+31C>A (n.391+31C>A)
c.370+31C>A (n.370+31C>A)
n.391+31C>A
c.562+31C>A (n.562+31C>A)
 dbSNP
1g.43338753C>ACA2695807091MPLc.391+33C>A (n.391+33C>A)
c.370+33C>A (n.370+33C>A)
n.391+33C>A
c.562+33C>A (n.562+33C>A)
 dbSNP
1g.43338754C>TCA2645222503MPLc.391+34C>T (n.391+34C>T)
c.370+34C>T (n.370+34C>T)
n.391+34C>T
c.562+34C>T (n.562+34C>T)
 gnomAD v4
1g.43338755A>CCA2695807220MPLc.391+35A>C (n.391+35A>C)
c.370+35A>C (n.370+35A>C)
n.391+35A>C
c.562+35A>C (n.562+35A>C)
 dbSNP
1g.43338755A>TCA2695807222MPLc.391+35A>T (n.391+35A>T)
c.370+35A>T (n.370+35A>T)
n.391+35A>T
c.562+35A>T (n.562+35A>T)
 dbSNP
1g.43338756C=CA1165576119MPLc.391+36C= (n.391+36C=)
c.370+36C= (n.370+36C=)
n.391+36C=
c.562+36C= (n.562+36C=)
1g.43338756C>TCA806654MPLc.391+36C>T (n.391+36C>T)
c.370+36C>T (n.370+36C>T)
n.391+36C>T
c.562+36C>T (n.562+36C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338757T>CCA806655MPLc.391+37T>C (n.391+37T>C)
c.370+37T>C (n.370+37T>C)
n.391+37T>C
c.562+37T>C (n.562+37T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338757T=CA1165576120MPLc.391+37T= (n.391+37T=)
c.370+37T= (n.370+37T=)
n.391+37T=
c.562+37T= (n.562+37T=)
1g.43338759G>ACA1165576123MPLc.391+39G>A (n.391+39G>A)
c.370+39G>A (n.370+39G>A)
n.391+39G>A
c.562+39G>A (n.562+39G>A)
 dbSNP
1g.43338759G>CCA2695581108MPLc.391+39G>C (n.391+39G>C)
c.370+39G>C (n.370+39G>C)
n.391+39G>C
c.562+39G>C (n.562+39G>C)
 dbSNP
1g.43338759G=CA1165576122MPLc.391+39G= (n.391+39G=)
c.370+39G= (n.370+39G=)
n.391+39G=
c.562+39G= (n.562+39G=)
1g.43338759_43338760delinsGCCA1165576121MPLc.391+39_391+40delinsGC (n.391+39_391+40delinsGC)
c.370+39_370+40delinsGC (n.370+39_370+40delinsGC)
n.391+39_391+40delinsGC
c.562+39_562+40delinsGC (n.562+39_562+40delinsGC)
1g.43338760delCA806656MPLc.391+40del (n.391+40del)
c.370+40del (n.370+40del)
n.391+40del
c.562+40del (n.562+40del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43338760C>ACA2574340732MPLc.391+40C>A (n.391+40C>A)
c.370+40C>A (n.370+40C>A)
n.391+40C>A
c.562+40C>A (n.562+40C>A)
 dbSNP
1g.43338762G>TCA2645222511MPLc.391+42G>T (n.391+42G>T)
c.370+42G>T (n.370+42G>T)
n.391+42G>T
c.562+42G>T (n.562+42G>T)
 gnomAD v4
1g.43338763C>ACA2574340735MPLc.391+43C>A (n.391+43C>A)
c.370+43C>A (n.370+43C>A)
n.391+43C>A
c.562+43C>A (n.562+43C>A)
1g.43338763C>TCA2695807339MPLc.391+43C>T (n.391+43C>T)
c.370+43C>T (n.370+43C>T)
n.391+43C>T
c.562+43C>T (n.562+43C>T)
 dbSNP
1g.43338767delCA2574340734MPLc.391+47del (n.391+47del)
c.370+47del (n.370+47del)
n.391+47del
c.562+47del (n.562+47del)
 gnomAD v4
1g.43338764C>ACA2645222515MPLc.391+44C>A (n.391+44C>A)
c.370+44C>A (n.370+44C>A)
n.391+44C>A
c.562+44C>A (n.562+44C>A)
 gnomAD v4
1g.43338765C>ACA2695807412MPLc.391+45C>A (n.391+45C>A)
c.370+45C>A (n.370+45C>A)
n.391+45C>A
c.562+45C>A (n.562+45C>A)
 dbSNP
1g.43338766C>TCA2645222517MPLc.391+46C>T (n.391+46C>T)
c.370+46C>T (n.370+46C>T)
n.391+46C>T
c.562+46C>T (n.562+46C>T)
 gnomAD v4
1g.43338767C>ACA2581662794MPLc.391+47C>A (n.391+47C>A)
c.370+47C>A (n.370+47C>A)
n.391+47C>A
c.562+47C>A (n.562+47C>A)
1g.43338767C=CA1139835030MPLc.391+47C= (n.391+47C=)
c.370+47C= (n.370+47C=)
n.391+47C=
c.562+47C= (n.562+47C=)
1g.43338767C>GCA1001097524MPLc.391+47C>G (n.391+47C>G)
c.370+47C>G (n.370+47C>G)
n.391+47C>G
c.562+47C>G (n.562+47C>G)
 dbSNP gnomAD v3 gnomAD v4
1g.43338767C>TCA806657MPLc.391+47C>T (n.391+47C>T)
c.370+47C>T (n.370+47C>T)
n.391+47C>T
c.562+47C>T (n.562+47C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338769G>CCA2695807469MPLc.391+49G>C (n.391+49G>C)
c.370+49G>C (n.370+49G>C)
n.391+49G>C
c.562+49G>C (n.562+49G>C)
 dbSNP

Number of alleles fetched