Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.43338569T>ACA339973356MPLc.240T>A (p.Ser80Arg)
c.219T>A (p.Ser73Arg)
n.240T>A
c.411T>A (p.Ser137Arg)
1g.43338569T>CCA417417282MPLc.240T>C (p.Ser80=)
c.219T>C (p.Ser73=)
n.240T>C
c.411T>C (p.Ser137=)
1g.43338569T>GCA339973358MPLc.240T>G (p.Ser80Arg)
c.219T>G (p.Ser73Arg)
n.240T>G
c.411T>G (p.Ser137Arg)
1g.43338570T>ACA339973361MPLc.241T>A (p.Ser81Thr)
c.220T>A (p.Ser74Thr)
n.241T>A
c.412T>A (p.Ser138Thr)
1g.43338570T>CCA339973364MPLc.241T>C (p.Ser81Pro)
c.220T>C (p.Ser74Pro)
n.241T>C
c.412T>C (p.Ser138Pro)
1g.43338570T>GCA339973366MPLc.241T>G (p.Ser81Ala)
c.220T>G (p.Ser74Ala)
n.241T>G
c.412T>G (p.Ser138Ala)
1g.43338571C>ACA339973373MPLc.242C>A (p.Ser81Tyr)
c.221C>A (p.Ser74Tyr)
n.242C>A
c.413C>A (p.Ser138Tyr)
1g.43338571C>GCA339973369MPLc.242C>G (p.Ser81Cys)
c.221C>G (p.Ser74Cys)
n.242C>G
c.413C>G (p.Ser138Cys)
1g.43338571C>TCA339973370MPLc.242C>T (p.Ser81Phe)
c.221C>T (p.Ser74Phe)
n.242C>T
c.413C>T (p.Ser138Phe)
 ClinVar dbSNP COSMIC COSMIC
1g.43338572C>ACA417417288MPLc.243C>A (p.Ser81=)
c.222C>A (p.Ser74=)
n.243C>A
c.414C>A (p.Ser138=)
1g.43338572C=CA1165576053MPLc.243C= (p.Ser81=)
c.222C= (p.Ser74=)
n.243C=
c.414C= (p.Ser138=)
1g.43338572C>GCA417417289MPLc.243C>G (p.Ser81=)
c.222C>G (p.Ser74=)
n.243C>G
c.414C>G (p.Ser138=)
1g.43338572C>TCA417417290MPLc.243C>T (p.Ser81=)
c.222C>T (p.Ser74=)
n.243C>T
c.414C>T (p.Ser138=)
 dbSNP
1g.43338573C>ACA339973376MPLc.244C>A (p.Gln82Lys)
c.223C>A (p.Gln75Lys)
n.244C>A
c.415C>A (p.Gln139Lys)
1g.43338573C=CA1165576054MPLc.244C= (p.Gln82=)
c.223C= (p.Gln75=)
n.244C=
c.415C= (p.Gln139=)
1g.43338573C>GCA339973378MPLc.244C>G (p.Gln82Glu)
c.223C>G (p.Gln75Glu)
n.244C>G
c.415C>G (p.Gln139Glu)
1g.43338573C>TCA339973379MPLc.244C>T (p.Gln82Ter)
c.223C>T (p.Gln75Ter)
n.244C>T
c.415C>T (p.Gln139Ter)
 ClinVar dbSNP
1g.43338574A=CA1165576055MPLc.245A= (p.Gln82=)
c.224A= (p.Gln75=)
n.245A=
c.416A= (p.Gln139=)
1g.43338574A>CCA339973383MPLc.245A>C (p.Gln82Pro)
c.224A>C (p.Gln75Pro)
n.245A>C
c.416A>C (p.Gln139Pro)
1g.43338574A>GCA339973385MPLc.245A>G (p.Gln82Arg)
c.224A>G (p.Gln75Arg)
n.245A>G
c.416A>G (p.Gln139Arg)
 dbSNP
1g.43338574A>TCA339973387MPLc.245A>T (p.Gln82Leu)
c.224A>T (p.Gln75Leu)
n.245A>T
c.416A>T (p.Gln139Leu)
1g.43338575G>ACA417417293MPLc.246G>A (p.Gln82=)
c.225G>A (p.Gln75=)
n.246G>A
c.417G>A (p.Gln139=)
 gnomAD v4
1g.43338575G>CCA339973388MPLc.246G>C (p.Gln82His)
c.225G>C (p.Gln75His)
n.246G>C
c.417G>C (p.Gln139His)
1g.43338575G>TCA339973389MPLc.246G>T (p.Gln82His)
c.225G>T (p.Gln75His)
n.246G>T
c.417G>T (p.Gln139His)
1g.43338576A>CCA339973390MPLc.247A>C (p.Ser83Arg)
c.226A>C (p.Ser76Arg)
n.247A>C
c.418A>C (p.Ser140Arg)
1g.43338576A>GCA339973391MPLc.247A>G (p.Ser83Gly)
c.226A>G (p.Ser76Gly)
n.247A>G
c.418A>G (p.Ser140Gly)
 gnomAD v4
1g.43338576A>TCA339973393MPLc.247A>T (p.Ser83Cys)
c.226A>T (p.Ser76Cys)
n.247A>T
c.418A>T (p.Ser140Cys)
1g.43338577G>ACA339973396MPLc.248G>A (p.Ser83Asn)
c.227G>A (p.Ser76Asn)
n.248G>A
c.419G>A (p.Ser140Asn)
 dbSNP gnomAD v4
1g.43338577G>CCA339973395MPLc.248G>C (p.Ser83Thr)
c.227G>C (p.Ser76Thr)
n.248G>C
c.419G>C (p.Ser140Thr)
1g.43338577G>TCA339973394MPLc.248G>T (p.Ser83Ile)
c.227G>T (p.Ser76Ile)
n.248G>T
c.419G>T (p.Ser140Ile)
1g.43338578C>ACA339973397MPLc.249C>A (p.Ser83Arg)
c.228C>A (p.Ser76Arg)
n.249C>A
c.420C>A (p.Ser140Arg)
1g.43338578C>GCA339973398MPLc.249C>G (p.Ser83Arg)
c.228C>G (p.Ser76Arg)
n.249C>G
c.420C>G (p.Ser140Arg)
1g.43338578C>TCA417417300MPLc.249C>T (p.Ser83=)
c.228C>T (p.Ser76=)
n.249C>T
c.420C>T (p.Ser140=)
 dbSNP
1g.43338579A=CA1165576056MPLc.250A= (p.Met84=)
c.229A= (p.Met77=)
n.250A=
c.421A= (p.Met141=)
1g.43338579A>CCA339973399MPLc.250A>C (p.Met84Leu)
c.229A>C (p.Met77Leu)
n.250A>C
c.421A>C (p.Met141Leu)
1g.43338579A>GCA806621MPLc.250A>G (p.Met84Val)
c.229A>G (p.Met77Val)
n.250A>G
c.421A>G (p.Met141Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43338579A>TCA339973400MPLc.250A>T (p.Met84Leu)
c.229A>T (p.Met77Leu)
n.250A>T
c.421A>T (p.Met141Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.43338580T>ACA339973402MPLc.251T>A (p.Met84Lys)
c.230T>A (p.Met77Lys)
n.251T>A
c.422T>A (p.Met141Lys)
1g.43338580T>CCA806622MPLc.251T>C (p.Met84Thr)
c.230T>C (p.Met77Thr)
n.251T>C
c.422T>C (p.Met141Thr)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
1g.43338580T>GCA339973401MPLc.251T>G (p.Met84Arg)
c.230T>G (p.Met77Arg)
n.251T>G
c.422T>G (p.Met141Arg)
1g.43338580T=CA1148898459MPLc.251T= (p.Met84=)
c.230T= (p.Met77=)
n.251T=
c.422T= (p.Met141=)
1g.43338581delCA2499214730MPLc.252del (p.Met84IlefsTer28)
c.231del (p.Met77IlefsTer28)
n.252del
c.423del (p.Met141IlefsTer28)
 ClinVar dbSNP
1g.43338581G>ACA21607209MPLc.252G>A (p.Met84Ile)
c.231G>A (p.Met77Ile)
n.252G>A
c.423G>A (p.Met141Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43338581G>CCA339973403MPLc.252G>C (p.Met84Ile)
c.231G>C (p.Met77Ile)
n.252G>C
c.423G>C (p.Met141Ile)
1g.43338581G=CA1165576057MPLc.252G= (p.Met84=)
c.231G= (p.Met77=)
n.252G=
c.423G= (p.Met141=)
1g.43338581G>TCA806623MPLc.252G>T (p.Met84Ile)
c.231G>T (p.Met77Ile)
n.252G>T
c.423G>T (p.Met141Ile)
 dbSNP ExAC gnomAD v2
1g.43338582C>ACA21607214MPLc.253C>A (p.Pro85Thr)
c.232C>A (p.Pro78Thr)
n.253C>A
c.424C>A (p.Pro142Thr)
 dbSNP gnomAD v4
1g.43338582C=CA1165576058MPLc.253C= (p.Pro85=)
c.232C= (p.Pro78=)
n.253C=
c.424C= (p.Pro142=)
1g.43338582C>GCA339973405MPLc.253C>G (p.Pro85Ala)
c.232C>G (p.Pro78Ala)
n.253C>G
c.424C>G (p.Pro142Ala)
1g.43338582C>TCA339973406MPLc.253C>T (p.Pro85Ser)
c.232C>T (p.Pro78Ser)
n.253C>T
c.424C>T (p.Pro142Ser)
 dbSNP COSMIC
1g.43338583C>ACA806624MPLc.254C>A (p.Pro85His)
c.233C>A (p.Pro78His)
n.254C>A
c.425C>A (p.Pro142His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338583C=CA1165576059MPLc.254C= (p.Pro85=)
c.233C= (p.Pro78=)
n.254C=
c.425C= (p.Pro142=)
1g.43338583C>GCA339973408MPLc.254C>G (p.Pro85Arg)
c.233C>G (p.Pro78Arg)
n.254C>G
c.425C>G (p.Pro142Arg)
1g.43338583C>TCA339973407MPLc.254C>T (p.Pro85Leu)
c.233C>T (p.Pro78Leu)
n.254C>T
c.425C>T (p.Pro142Leu)
 dbSNP
1g.43338584C>ACA417417312MPLc.255C>A (p.Pro85=)
c.234C>A (p.Pro78=)
n.255C>A
c.426C>A (p.Pro142=)
 dbSNP
1g.43338584C=CA1165576060MPLc.255C= (p.Pro85=)
c.234C= (p.Pro78=)
n.255C=
c.426C= (p.Pro142=)
1g.43338584C>GCA417417313MPLc.255C>G (p.Pro85=)
c.234C>G (p.Pro78=)
n.255C>G
c.426C>G (p.Pro142=)
1g.43338584C>TCA417417317MPLc.255C>T (p.Pro85=)
c.234C>T (p.Pro78=)
n.255C>T
c.426C>T (p.Pro142=)
 ClinVar dbSNP gnomAD v4
1g.43338585C>ACA339973409MPLc.256C>A (p.His86Asn)
c.235C>A (p.His79Asn)
n.256C>A
c.427C>A (p.His143Asn)
1g.43338585C>GCA339973410MPLc.256C>G (p.His86Asp)
c.235C>G (p.His79Asp)
n.256C>G
c.427C>G (p.His143Asp)
1g.43338585C>TCA339973411MPLc.256C>T (p.His86Tyr)
c.235C>T (p.His79Tyr)
n.256C>T
c.427C>T (p.His143Tyr)
1g.43338586A>CCA339973412MPLc.257A>C (p.His86Pro)
c.236A>C (p.His79Pro)
n.257A>C
c.428A>C (p.His143Pro)
1g.43338586A>GCA339973413MPLc.257A>G (p.His86Arg)
c.236A>G (p.His79Arg)
n.257A>G
c.428A>G (p.His143Arg)
1g.43338586A>TCA339973414MPLc.257A>T (p.His86Leu)
c.236A>T (p.His79Leu)
n.257A>T
c.428A>T (p.His143Leu)
1g.43338587C>ACA339973415MPLc.258C>A (p.His86Gln)
c.237C>A (p.His79Gln)
n.258C>A
c.429C>A (p.His143Gln)
1g.43338587C>GCA339973416MPLc.258C>G (p.His86Gln)
c.237C>G (p.His79Gln)
n.258C>G
c.429C>G (p.His143Gln)
 dbSNP
1g.43338587C>TCA417417326MPLc.258C>T (p.His86=)
c.237C>T (p.His79=)
n.258C>T
c.429C>T (p.His143=)
 gnomAD v4
1g.43338588T>ACA339973417MPLc.259T>A (p.Phe87Ile)
c.238T>A (p.Phe80Ile)
n.259T>A
c.430T>A (p.Phe144Ile)
1g.43338588T>CCA339973418MPLc.259T>C (p.Phe87Leu)
c.238T>C (p.Phe80Leu)
n.259T>C
c.430T>C (p.Phe144Leu)
1g.43338588T>GCA339973419MPLc.259T>G (p.Phe87Val)
c.238T>G (p.Phe80Val)
n.259T>G
c.430T>G (p.Phe144Val)
1g.43338589T>ACA339973420MPLc.260T>A (p.Phe87Tyr)
c.239T>A (p.Phe80Tyr)
n.260T>A
c.431T>A (p.Phe144Tyr)
1g.43338589T>CCA339973422MPLc.260T>C (p.Phe87Ser)
c.239T>C (p.Phe80Ser)
n.260T>C
c.431T>C (p.Phe144Ser)
1g.43338589T>GCA339973421MPLc.260T>G (p.Phe87Cys)
c.239T>G (p.Phe80Cys)
n.260T>G
c.431T>G (p.Phe144Cys)
1g.43338590T>ACA339973423MPLc.261T>A (p.Phe87Leu)
c.240T>A (p.Phe80Leu)
n.261T>A
c.432T>A (p.Phe144Leu)
1g.43338590T>CCA417417330MPLc.261T>C (p.Phe87=)
c.240T>C (p.Phe80=)
n.261T>C
c.432T>C (p.Phe144=)
1g.43338590T>GCA21607226MPLc.261T>G (p.Phe87Leu)
c.240T>G (p.Phe80Leu)
n.261T>G
c.432T>G (p.Phe144Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.43338590T=CA1142381939MPLc.261T= (p.Phe87=)
c.240T= (p.Phe80=)
n.261T=
c.432T= (p.Phe144=)
1g.43338591G>ACA339973424MPLc.262G>A (p.Gly88Arg)
c.241G>A (p.Gly81Arg)
n.262G>A
c.433G>A (p.Gly145Arg)
 COSMIC COSMIC
1g.43338591G>CCA339973426MPLc.262G>C (p.Gly88Arg)
c.241G>C (p.Gly81Arg)
n.262G>C
c.433G>C (p.Gly145Arg)
1g.43338591G>TCA339973425MPLc.262G>T (p.Gly88Ter)
c.241G>T (p.Gly81Ter)
n.262G>T
c.433G>T (p.Gly145Ter)
1g.43338592G>ACA160818MPLc.263G>A (p.Gly88Glu)
c.242G>A (p.Gly81Glu)
n.263G>A
c.434G>A (p.Gly145Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43338592G>CCA339973427MPLc.263G>C (p.Gly88Ala)
c.242G>C (p.Gly81Ala)
n.263G>C
c.434G>C (p.Gly145Ala)
1g.43338592G=CA1148224237MPLc.263G= (p.Gly88=)
c.242G= (p.Gly81=)
n.263G=
c.434G= (p.Gly145=)
1g.43338592G>TCA339973428MPLc.263G>T (p.Gly88Val)
c.242G>T (p.Gly81Val)
n.263G>T
c.434G>T (p.Gly145Val)
1g.43338593A=CA1165576061MPLc.264A= (p.Gly88=)
c.243A= (p.Gly81=)
n.264A=
c.435A= (p.Gly145=)
1g.43338593A>CCA417417334MPLc.264A>C (p.Gly88=)
c.243A>C (p.Gly81=)
n.264A>C
c.435A>C (p.Gly145=)
1g.43338593A>GCA417417335MPLc.264A>G (p.Gly88=)
c.243A>G (p.Gly81=)
n.264A>G
c.435A>G (p.Gly145=)
 dbSNP
1g.43338593A>TCA417417336MPLc.264A>T (p.Gly88=)
c.243A>T (p.Gly81=)
n.264A>T
c.435A>T (p.Gly145=)
 ClinVar
1g.43338594A>CCA339973429MPLc.265A>C (p.Thr89Pro)
c.244A>C (p.Thr82Pro)
n.265A>C
c.436A>C (p.Thr146Pro)
1g.43338594A>GCA339973430MPLc.265A>G (p.Thr89Ala)
c.244A>G (p.Thr82Ala)
n.265A>G
c.436A>G (p.Thr146Ala)
1g.43338594A>TCA339973431MPLc.265A>T (p.Thr89Ser)
c.244A>T (p.Thr82Ser)
n.265A>T
c.436A>T (p.Thr146Ser)
1g.43338595C>ACA339973432MPLc.266C>A (p.Thr89Asn)
c.245C>A (p.Thr82Asn)
n.266C>A
c.437C>A (p.Thr146Asn)
 gnomAD v4
1g.43338595C=CA1165576062MPLc.266C= (p.Thr89=)
c.245C= (p.Thr82=)
n.266C=
c.437C= (p.Thr146=)
1g.43338595C>GCA339973433MPLc.266C>G (p.Thr89Ser)
c.245C>G (p.Thr82Ser)
n.266C>G
c.437C>G (p.Thr146Ser)
1g.43338595C>TCA21607240MPLc.266C>T (p.Thr89Ile)
c.245C>T (p.Thr82Ile)
n.266C>T
c.437C>T (p.Thr146Ile)
 dbSNP gnomAD v4
1g.43338596C>ACA417417342MPLc.267C>A (p.Thr89=)
c.246C>A (p.Thr82=)
n.267C>A
c.438C>A (p.Thr146=)
 gnomAD v4
1g.43338596C>GCA417417344MPLc.267C>G (p.Thr89=)
c.246C>G (p.Thr82=)
n.267C>G
c.438C>G (p.Thr146=)
1g.43338596C>TCA417417345MPLc.267C>T (p.Thr89=)
c.246C>T (p.Thr82=)
n.267C>T
c.438C>T (p.Thr146=)
1g.43338597C>ACA417417346MPLc.268C>A (p.Arg90=)
c.247C>A (p.Arg83=)
n.268C>A
c.439C>A (p.Arg147=)
1g.43338597C=CA1165576063MPLc.268C= (p.Arg90=)
c.247C= (p.Arg83=)
n.268C=
c.439C= (p.Arg147=)
1g.43338597C>GCA339973434MPLc.268C>G (p.Arg90Gly)
c.247C>G (p.Arg83Gly)
n.268C>G
c.439C>G (p.Arg147Gly)
1g.43338597C>TCA806625MPLc.268C>T (p.Arg90Ter)
c.247C>T (p.Arg83Ter)
n.268C>T
c.439C>T (p.Arg147Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.43338598G>ACA806627MPLc.269G>A (p.Arg90Gln)
c.248G>A (p.Arg83Gln)
n.269G>A
c.440G>A (p.Arg147Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.43338598G>CCA806626MPLc.269G>C (p.Arg90Pro)
c.248G>C (p.Arg83Pro)
n.269G>C
c.440G>C (p.Arg147Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338598G=CA1165576064MPLc.269G= (p.Arg90=)
c.248G= (p.Arg83=)
n.269G=
c.440G= (p.Arg147=)
1g.43338598G>TCA339973435MPLc.269G>T (p.Arg90Leu)
c.248G>T (p.Arg83Leu)
n.269G>T
c.440G>T (p.Arg147Leu)
1g.43338599A>CCA417417350MPLc.270A>C (p.Arg90=)
c.249A>C (p.Arg83=)
n.270A>C
c.441A>C (p.Arg147=)
1g.43338599A>GCA417417351MPLc.270A>G (p.Arg90=)
c.249A>G (p.Arg83=)
n.270A>G
c.441A>G (p.Arg147=)
1g.43338599A>TCA417417353MPLc.270A>T (p.Arg90=)
c.249A>T (p.Arg83=)
n.270A>T
c.441A>T (p.Arg147=)
 dbSNP
1g.43338600T>ACA339973436MPLc.271T>A (p.Tyr91Asn)
c.250T>A (p.Tyr84Asn)
n.271T>A
c.442T>A (p.Tyr148Asn)
1g.43338600T>CCA339973437MPLc.271T>C (p.Tyr91His)
c.250T>C (p.Tyr84His)
n.271T>C
c.442T>C (p.Tyr148His)
 dbSNP gnomAD v4
1g.43338600T>GCA339973438MPLc.271T>G (p.Tyr91Asp)
c.250T>G (p.Tyr84Asp)
n.271T>G
c.442T>G (p.Tyr148Asp)
1g.43338600T=CA1165576065MPLc.271T= (p.Tyr91=)
c.250T= (p.Tyr84=)
n.271T=
c.442T= (p.Tyr148=)
1g.43338601A>CCA339973439MPLc.272A>C (p.Tyr91Ser)
c.251A>C (p.Tyr84Ser)
n.272A>C
c.443A>C (p.Tyr148Ser)
1g.43338601A>GCA339973440MPLc.272A>G (p.Tyr91Cys)
c.251A>G (p.Tyr84Cys)
n.272A>G
c.443A>G (p.Tyr148Cys)
1g.43338601A>TCA339973441MPLc.272A>T (p.Tyr91Phe)
c.251A>T (p.Tyr84Phe)
n.272A>T
c.443A>T (p.Tyr148Phe)
1g.43338602C>ACA339973442MPLc.273C>A (p.Tyr91Ter)
c.252C>A (p.Tyr84Ter)
n.273C>A
c.444C>A (p.Tyr148Ter)
 ClinVar dbSNP gnomAD v4
1g.43338602C=CA1165576066MPLc.273C= (p.Tyr91=)
c.252C= (p.Tyr84=)
n.273C=
c.444C= (p.Tyr148=)
1g.43338602C>GCA339973443MPLc.273C>G (p.Tyr91Ter)
c.252C>G (p.Tyr84Ter)
n.273C>G
c.444C>G (p.Tyr148Ter)
1g.43338602C>TCA806628MPLc.273C>T (p.Tyr91=)
c.252C>T (p.Tyr84=)
n.273C>T
c.444C>T (p.Tyr148=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338603G>ACA339973444MPLc.274G>A (p.Val92Met)
c.253G>A (p.Val85Met)
n.274G>A
c.445G>A (p.Val149Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.43338603G>CCA339973445MPLc.274G>C (p.Val92Leu)
c.253G>C (p.Val85Leu)
n.274G>C
c.445G>C (p.Val149Leu)
1g.43338603G=CA1165576067MPLc.274G= (p.Val92=)
c.253G= (p.Val85=)
n.274G=
c.445G= (p.Val149=)
1g.43338603G>TCA339973446MPLc.274G>T (p.Val92Leu)
c.253G>T (p.Val85Leu)
n.274G>T
c.445G>T (p.Val149Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43338604T>ACA339973450MPLc.275T>A (p.Val92Glu)
c.254T>A (p.Val85Glu)
n.275T>A
c.446T>A (p.Val149Glu)
1g.43338604T>CCA339973448MPLc.275T>C (p.Val92Ala)
c.254T>C (p.Val85Ala)
n.275T>C
c.446T>C (p.Val149Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.43338604T>GCA339973447MPLc.275T>G (p.Val92Gly)
c.254T>G (p.Val85Gly)
n.275T>G
c.446T>G (p.Val149Gly)
1g.43338604T=CA1165576068MPLc.275T= (p.Val92=)
c.254T= (p.Val85=)
n.275T=
c.446T= (p.Val149=)
1g.43338605G>ACA417417363MPLc.276G>A (p.Val92=)
c.255G>A (p.Val85=)
n.276G>A
c.447G>A (p.Val149=)
 dbSNP
1g.43338605G>CCA417417366MPLc.276G>C (p.Val92=)
c.255G>C (p.Val85=)
n.276G>C
c.447G>C (p.Val149=)
1g.43338605G>TCA417417370MPLc.276G>T (p.Val92=)
c.255G>T (p.Val85=)
n.276G>T
c.447G>T (p.Val149=)
1g.43338606T>ACA339973452MPLc.277T>A (p.Cys93Ser)
c.256T>A (p.Cys86Ser)
n.277T>A
c.448T>A (p.Cys150Ser)
1g.43338606T>CCA339973453MPLc.277T>C (p.Cys93Arg)
c.256T>C (p.Cys86Arg)
n.277T>C
c.448T>C (p.Cys150Arg)
 dbSNP
1g.43338606T>GCA339973455MPLc.277T>G (p.Cys93Gly)
c.256T>G (p.Cys86Gly)
n.277T>G
c.448T>G (p.Cys150Gly)
1g.43338607_43338614dupCA2740090652MPLc.278_285dup (p.Pro96AlafsTer19)
c.257_264dup (p.Pro89AlafsTer19)
n.278_285dup
c.449_456dup (p.Pro153AlafsTer19)
 ClinVar
1g.43338607delCA2573049019MPLc.278del (p.Cys93SerfsTer19)
c.257del (p.Cys86SerfsTer19)
n.278del
c.449del (p.Cys150SerfsTer19)
1g.43338607G>ACA339973458MPLc.278G>A (p.Cys93Tyr)
c.257G>A (p.Cys86Tyr)
n.278G>A
c.449G>A (p.Cys150Tyr)
 dbSNP
1g.43338607G>CCA339973459MPLc.278G>C (p.Cys93Ser)
c.257G>C (p.Cys86Ser)
n.278G>C
c.449G>C (p.Cys150Ser)
1g.43338607G>TCA339973460MPLc.278G>T (p.Cys93Phe)
c.257G>T (p.Cys86Phe)
n.278G>T
c.449G>T (p.Cys150Phe)
1g.43338608C>ACA339973463MPLc.279C>A (p.Cys93Ter)
c.258C>A (p.Cys86Ter)
n.279C>A
c.450C>A (p.Cys150Ter)
1g.43338608C>GCA339973464MPLc.279C>G (p.Cys93Trp)
c.258C>G (p.Cys86Trp)
n.279C>G
c.450C>G (p.Cys150Trp)
1g.43338608C>TCA417417379MPLc.279C>T (p.Cys93=)
c.258C>T (p.Cys86=)
n.279C>T
c.450C>T (p.Cys150=)
 ClinVar dbSNP gnomAD v4
1g.43338609C>ACA339973466MPLc.280C>A (p.Gln94Lys)
c.259C>A (p.Gln87Lys)
n.280C>A
c.451C>A (p.Gln151Lys)
1g.43338609C=CA1165576069MPLc.280C= (p.Gln94=)
c.259C= (p.Gln87=)
n.280C=
c.451C= (p.Gln151=)
1g.43338609C>GCA339973468MPLc.280C>G (p.Gln94Glu)
c.259C>G (p.Gln87Glu)
n.280C>G
c.451C>G (p.Gln151Glu)
1g.43338609C>TCA339973470MPLc.280C>T (p.Gln94Ter)
c.259C>T (p.Gln87Ter)
n.280C>T
c.451C>T (p.Gln151Ter)
 ClinVar dbSNP
1g.43338610A>CCA339973472MPLc.281A>C (p.Gln94Pro)
c.260A>C (p.Gln87Pro)
n.281A>C
c.452A>C (p.Gln151Pro)
1g.43338610A>GCA339973474MPLc.281A>G (p.Gln94Arg)
c.260A>G (p.Gln87Arg)
n.281A>G
c.452A>G (p.Gln151Arg)
1g.43338610A>TCA339973476MPLc.281A>T (p.Gln94Leu)
c.260A>T (p.Gln87Leu)
n.281A>T
c.452A>T (p.Gln151Leu)
1g.43338611G>ACA417417381MPLc.282G>A (p.Gln94=)
c.261G>A (p.Gln87=)
n.282G>A
c.453G>A (p.Gln151=)
 dbSNP
1g.43338611G>CCA339973478MPLc.282G>C (p.Gln94His)
c.261G>C (p.Gln87His)
n.282G>C
c.453G>C (p.Gln151His)
1g.43338611G>TCA339973480MPLc.282G>T (p.Gln94His)
c.261G>T (p.Gln87His)
n.282G>T
c.453G>T (p.Gln151His)
 dbSNP
1g.43338612T>ACA339973482MPLc.283T>A (p.Phe95Ile)
c.262T>A (p.Phe88Ile)
n.283T>A
c.454T>A (p.Phe152Ile)
1g.43338612T>CCA806629MPLc.283T>C (p.Phe95Leu)
c.262T>C (p.Phe88Leu)
n.283T>C
c.454T>C (p.Phe152Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338612T>GCA339973485MPLc.283T>G (p.Phe95Val)
c.262T>G (p.Phe88Val)
n.283T>G
c.454T>G (p.Phe152Val)
1g.43338612T=CA1165576070MPLc.283T= (p.Phe95=)
c.262T= (p.Phe88=)
n.283T=
c.454T= (p.Phe152=)
1g.43338613T>ACA339973487MPLc.284T>A (p.Phe95Tyr)
c.263T>A (p.Phe88Tyr)
n.284T>A
c.455T>A (p.Phe152Tyr)
1g.43338613T>CCA339973489MPLc.284T>C (p.Phe95Ser)
c.263T>C (p.Phe88Ser)
n.284T>C
c.455T>C (p.Phe152Ser)
1g.43338613T>GCA339973491MPLc.284T>G (p.Phe95Cys)
c.263T>G (p.Phe88Cys)
n.284T>G
c.455T>G (p.Phe152Cys)
1g.43338614T>ACA339973493MPLc.285T>A (p.Phe95Leu)
c.264T>A (p.Phe88Leu)
n.285T>A
c.456T>A (p.Phe152Leu)
1g.43338614T>CCA417417392MPLc.285T>C (p.Phe95=)
c.264T>C (p.Phe88=)
n.285T>C
c.456T>C (p.Phe152=)
1g.43338614T>GCA339973495MPLc.285T>G (p.Phe95Leu)
c.264T>G (p.Phe88Leu)
n.285T>G
c.456T>G (p.Phe152Leu)
 gnomAD v4
1g.43338615C>ACA339973497MPLc.286C>A (p.Pro96Thr)
c.265C>A (p.Pro89Thr)
n.286C>A
c.457C>A (p.Pro153Thr)
1g.43338615C=CA1165576071MPLc.286C= (p.Pro96=)
c.265C= (p.Pro89=)
n.286C=
c.457C= (p.Pro153=)
1g.43338615C>GCA339973498MPLc.286C>G (p.Pro96Ala)
c.265C>G (p.Pro89Ala)
n.286C>G
c.457C>G (p.Pro153Ala)
1g.43338615C>TCA339973500MPLc.286C>T (p.Pro96Ser)
c.265C>T (p.Pro89Ser)
n.286C>T
c.457C>T (p.Pro153Ser)
 dbSNP gnomAD v4
1g.43338615_43338616insTTCTCA2695806192MPLc.286_287insTTCT (p.Pro96LeufsTer?)
c.265_266insTTCT (p.Pro89LeufsTer?)
n.286_287insTTCT
c.457_458insTTCT (p.Pro153LeufsTer?)
 dbSNP
1g.43338616C>ACA339973505MPLc.287C>A (p.Pro96Gln)
c.266C>A (p.Pro89Gln)
n.287C>A
c.458C>A (p.Pro153Gln)
1g.43338616C>GCA339973504MPLc.287C>G (p.Pro96Arg)
c.266C>G (p.Pro89Arg)
n.287C>G
c.458C>G (p.Pro153Arg)
1g.43338616C>TCA339973503MPLc.287C>T (p.Pro96Leu)
c.266C>T (p.Pro89Leu)
n.287C>T
c.458C>T (p.Pro153Leu)
1g.43338617A>CCA417417394MPLc.288A>C (p.Pro96=)
c.267A>C (p.Pro89=)
n.288A>C
c.459A>C (p.Pro153=)
1g.43338617A>GCA417417395MPLc.288A>G (p.Pro96=)
c.267A>G (p.Pro89=)
n.288A>G
c.459A>G (p.Pro153=)
1g.43338617A>TCA417417397MPLc.288A>T (p.Pro96=)
c.267A>T (p.Pro89=)
n.288A>T
c.459A>T (p.Pro153=)
1g.43338617_43338618insCTGCCTGGGATAGGTGGCA2695806195MPLc.288_289insCTGCCTGGGATAGGTGG (p.Asp97LeufsTer21)
c.267_268insCTGCCTGGGATAGGTGG (p.Asp90LeufsTer21)
n.288_289insCTGCCTGGGATAGGTGG
c.459_460insCTGCCTGGGATAGGTGG (p.Asp154LeufsTer21)
 dbSNP
1g.43338618G>ACA339973508MPLc.289G>A (p.Asp97Asn)
c.268G>A (p.Asp90Asn)
n.289G>A
c.460G>A (p.Asp154Asn)
1g.43338618G>CCA339973511MPLc.289G>C (p.Asp97His)
c.268G>C (p.Asp90His)
n.289G>C
c.460G>C (p.Asp154His)
 dbSNP gnomAD v2 gnomAD v4
1g.43338618G=CA1165576072MPLc.289G= (p.Asp97=)
c.268G= (p.Asp90=)
n.289G=
c.460G= (p.Asp154=)
1g.43338618G>TCA339973510MPLc.289G>T (p.Asp97Tyr)
c.268G>T (p.Asp90Tyr)
n.289G>T
c.460G>T (p.Asp154Tyr)
 COSMIC
1g.43338619A>CCA339973514MPLc.290A>C (p.Asp97Ala)
c.269A>C (p.Asp90Ala)
n.290A>C
c.461A>C (p.Asp154Ala)
1g.43338619A>GCA339973516MPLc.290A>G (p.Asp97Gly)
c.269A>G (p.Asp90Gly)
n.290A>G
c.461A>G (p.Asp154Gly)
 gnomAD v4
1g.43338619A>TCA339973518MPLc.290A>T (p.Asp97Val)
c.269A>T (p.Asp90Val)
n.290A>T
c.461A>T (p.Asp154Val)
1g.43338620C>ACA339973520MPLc.291C>A (p.Asp97Glu)
c.270C>A (p.Asp90Glu)
n.291C>A
c.462C>A (p.Asp154Glu)
 dbSNP
1g.43338620C>GCA339973521MPLc.291C>G (p.Asp97Glu)
c.270C>G (p.Asp90Glu)
n.291C>G
c.462C>G (p.Asp154Glu)
1g.43338620C>TCA417417403MPLc.291C>T (p.Asp97=)
c.270C>T (p.Asp90=)
n.291C>T
c.462C>T (p.Asp154=)
1g.43338621C>ACA339973524MPLc.292C>A (p.Gln98Lys)
c.271C>A (p.Gln91Lys)
n.292C>A
c.463C>A (p.Gln155Lys)
1g.43338621C=CA1165576073MPLc.292C= (p.Gln98=)
c.271C= (p.Gln91=)
n.292C=
c.463C= (p.Gln155=)
1g.43338621C>GCA806630MPLc.292C>G (p.Gln98Glu)
c.271C>G (p.Gln91Glu)
n.292C>G
c.463C>G (p.Gln155Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.43338621C>TCA339973526MPLc.292C>T (p.Gln98Ter)
c.271C>T (p.Gln91Ter)
n.292C>T
c.463C>T (p.Gln155Ter)
 ClinVar dbSNP
1g.43338622A>CCA339973529MPLc.293A>C (p.Gln98Pro)
c.272A>C (p.Gln91Pro)
n.293A>C
c.464A>C (p.Gln155Pro)
1g.43338622A>GCA339973530MPLc.293A>G (p.Gln98Arg)
c.272A>G (p.Gln91Arg)
n.293A>G
c.464A>G (p.Gln155Arg)
1g.43338622A>TCA339973532MPLc.293A>T (p.Gln98Leu)
c.272A>T (p.Gln91Leu)
n.293A>T
c.464A>T (p.Gln155Leu)
1g.43338623G>ACA21607259MPLc.294G>A (p.Gln98=)
c.273G>A (p.Gln91=)
n.294G>A
c.465G>A (p.Gln155=)
 dbSNP
1g.43338623G>CCA339973535MPLc.294G>C (p.Gln98His)
c.273G>C (p.Gln91His)
n.294G>C
c.465G>C (p.Gln155His)
1g.43338623G=CA1165576074MPLc.294G= (p.Gln98=)
c.273G= (p.Gln91=)
n.294G=
c.465G= (p.Gln155=)
1g.43338623G>TCA339973536MPLc.294G>T (p.Gln98His)
c.273G>T (p.Gln91His)
n.294G>T
c.465G>T (p.Gln155His)
1g.43338624G>ACA21607262MPLc.295G>A (p.Glu99Lys)
c.274G>A (p.Glu92Lys)
n.295G>A
c.466G>A (p.Glu156Lys)
 dbSNP
1g.43338624G>CCA339973542MPLc.295G>C (p.Glu99Gln)
c.274G>C (p.Glu92Gln)
n.295G>C
c.466G>C (p.Glu156Gln)
1g.43338624G=CA1143537895MPLc.295G= (p.Glu99=)
c.274G= (p.Glu92=)
n.295G=
c.466G= (p.Glu156=)
1g.43338624G>TCA339973540MPLc.295G>T (p.Glu99Ter)
c.274G>T (p.Glu92Ter)
n.295G>T
c.466G>T (p.Glu156Ter)
1g.43338625A>CCA339973544MPLc.296A>C (p.Glu99Ala)
c.275A>C (p.Glu92Ala)
n.296A>C
c.467A>C (p.Glu156Ala)
1g.43338625A>GCA339973546MPLc.296A>G (p.Glu99Gly)
c.275A>G (p.Glu92Gly)
n.296A>G
c.467A>G (p.Glu156Gly)
1g.43338625A>TCA339973548MPLc.296A>T (p.Glu99Val)
c.275A>T (p.Glu92Val)
n.296A>T
c.467A>T (p.Glu156Val)
1g.43338625_43338626delinsAGCA1165576075MPLc.296_297delinsAG (p.Glu99=)
c.275_276delinsAG (p.Glu92=)
n.296_297delinsAG
c.467_468delinsAG (p.Glu156=)
1g.43338626G>ACA417417413MPLc.297G>A (p.Glu99=)
c.276G>A (p.Glu92=)
n.297G>A
c.468G>A (p.Glu156=)
 gnomAD v4 COSMIC COSMIC
1g.43338626G>CCA339973550MPLc.297G>C (p.Glu99Asp)
c.276G>C (p.Glu92Asp)
n.297G>C
c.468G>C (p.Glu156Asp)
1g.43338626G>TCA339973552MPLc.297G>T (p.Glu99Asp)
c.276G>T (p.Glu92Asp)
n.297G>T
c.468G>T (p.Glu156Asp)
1g.43338627delCA522806113MPLc.298del (p.Glu100LysfsTer12)
c.277del (p.Glu93LysfsTer12)
n.298del
c.469del (p.Glu157LysfsTer12)
 dbSNP gnomAD v2 gnomAD v4
1g.43338627G>ACA806631MPLc.298G>A (p.Glu100Lys)
c.277G>A (p.Glu93Lys)
n.298G>A
c.469G>A (p.Glu157Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.43338627G>CCA339973555MPLc.298G>C (p.Glu100Gln)
c.277G>C (p.Glu93Gln)
n.298G>C
c.469G>C (p.Glu157Gln)
1g.43338627G=CA1165576076MPLc.298G= (p.Glu100=)
c.277G= (p.Glu93=)
n.298G=
c.469G= (p.Glu157=)
1g.43338627G>TCA339973556MPLc.298G>T (p.Glu100Ter)
c.277G>T (p.Glu93Ter)
n.298G>T
c.469G>T (p.Glu157Ter)
1g.43338628A=CA1165576077MPLc.299A= (p.Glu100=)
c.278A= (p.Glu93=)
n.299A=
c.470A= (p.Glu157=)
1g.43338628A>CCA339973559MPLc.299A>C (p.Glu100Ala)
c.278A>C (p.Glu93Ala)
n.299A>C
c.470A>C (p.Glu157Ala)
1g.43338628A>GCA339973560MPLc.299A>G (p.Glu100Gly)
c.278A>G (p.Glu93Gly)
n.299A>G
c.470A>G (p.Glu157Gly)
1g.43338628A>TCA339973562MPLc.299A>T (p.Glu100Val)
c.278A>T (p.Glu93Val)
n.299A>T
c.470A>T (p.Glu157Val)
 dbSNP gnomAD v2 gnomAD v4
1g.43338629A>CCA339973564MPLc.300A>C (p.Glu100Asp)
c.279A>C (p.Glu93Asp)
n.300A>C
c.471A>C (p.Glu157Asp)
1g.43338629A>GCA417417419MPLc.300A>G (p.Glu100=)
c.279A>G (p.Glu93=)
n.300A>G
c.471A>G (p.Glu157=)
1g.43338629A>TCA339973566MPLc.300A>T (p.Glu100Asp)
c.279A>T (p.Glu93Asp)
n.300A>T
c.471A>T (p.Glu157Asp)
1g.43338630G>ACA339973567MPLc.301G>A (p.Val101Met)
c.280G>A (p.Val94Met)
n.301G>A
c.472G>A (p.Val158Met)
 dbSNP gnomAD v3 gnomAD v4
1g.43338630G>CCA339973569MPLc.301G>C (p.Val101Leu)
c.280G>C (p.Val94Leu)
n.301G>C
c.472G>C (p.Val158Leu)
1g.43338630G=CA1165576078MPLc.301G= (p.Val101=)
c.280G= (p.Val94=)
n.301G=
c.472G= (p.Val158=)
1g.43338630G>TCA339973571MPLc.301G>T (p.Val101Leu)
c.280G>T (p.Val94Leu)
n.301G>T
c.472G>T (p.Val158Leu)
1g.43338631T>ACA339973574MPLc.302T>A (p.Val101Glu)
c.281T>A (p.Val94Glu)
n.302T>A
c.473T>A (p.Val158Glu)
1g.43338631T>CCA339973575MPLc.302T>C (p.Val101Ala)
c.281T>C (p.Val94Ala)
n.302T>C
c.473T>C (p.Val158Ala)
1g.43338631T>GCA339973576MPLc.302T>G (p.Val101Gly)
c.281T>G (p.Val94Gly)
n.302T>G
c.473T>G (p.Val158Gly)
1g.43338632G>ACA417417422MPLc.303G>A (p.Val101=)
c.282G>A (p.Val94=)
n.303G>A
c.474G>A (p.Val158=)
 gnomAD v4
1g.43338632G>CCA417417423MPLc.303G>C (p.Val101=)
c.282G>C (p.Val94=)
n.303G>C
c.474G>C (p.Val158=)
1g.43338632G>TCA417417424MPLc.303G>T (p.Val101=)
c.282G>T (p.Val94=)
n.303G>T
c.474G>T (p.Val158=)
1g.43338633C>ACA339973579MPLc.304C>A (p.Arg102Ser)
c.283C>A (p.Arg95Ser)
n.304C>A
c.475C>A (p.Arg159Ser)
 dbSNP
1g.43338633C=CA1165576079MPLc.304C= (p.Arg102=)
c.283C= (p.Arg95=)
n.304C=
c.475C= (p.Arg159=)
1g.43338633C>GCA339973581MPLc.304C>G (p.Arg102Gly)
c.283C>G (p.Arg95Gly)
n.304C>G
c.475C>G (p.Arg159Gly)
1g.43338633C>TCA806632MPLc.304C>T (p.Arg102Cys)
c.283C>T (p.Arg95Cys)
n.304C>T
c.475C>T (p.Arg159Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.43338634G>ACA339973584MPLc.305G>A (p.Arg102His)
c.284G>A (p.Arg95His)
n.305G>A
c.476G>A (p.Arg159His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43338634G>CCA123780MPLc.305G>C (p.Arg102Pro)
c.284G>C (p.Arg95Pro)
n.305G>C
c.476G>C (p.Arg159Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338634G=CA1140495612MPLc.305G= (p.Arg102=)
c.284G= (p.Arg95=)
n.305G=
c.476G= (p.Arg159=)
1g.43338634G>TCA339973585MPLc.305G>T (p.Arg102Leu)
c.284G>T (p.Arg95Leu)
n.305G>T
c.476G>T (p.Arg159Leu)
1g.43338635T>ACA417417429MPLc.306T>A (p.Arg102=)
c.285T>A (p.Arg95=)
n.306T>A
c.477T>A (p.Arg159=)
 ClinVar dbSNP
1g.43338635T>CCA806633MPLc.306T>C (p.Arg102=)
c.285T>C (p.Arg95=)
n.306T>C
c.477T>C (p.Arg159=)
 ClinVar dbSNP ExAC gnomAD v4
1g.43338635T>GCA417417431MPLc.306T>G (p.Arg102=)
c.285T>G (p.Arg95=)
n.306T>G
c.477T>G (p.Arg159=)
1g.43338635T=CA1141737540MPLc.306T= (p.Arg102=)
c.285T= (p.Arg95=)
n.306T=
c.477T= (p.Arg159=)
1g.43338636C>ACA339973593MPLc.307C>A (p.Leu103Ile)
c.286C>A (p.Leu96Ile)
n.307C>A
c.478C>A (p.Leu160Ile)
 dbSNP
1g.43338636C>GCA339973589MPLc.307C>G (p.Leu103Val)
c.286C>G (p.Leu96Val)
n.307C>G
c.478C>G (p.Leu160Val)
1g.43338636C>TCA339973591MPLc.307C>T (p.Leu103Phe)
c.286C>T (p.Leu96Phe)
n.307C>T
c.478C>T (p.Leu160Phe)
 gnomAD v4
1g.43338636_43338637delinsCTCA1165576080MPLc.307_308delinsCT (p.Leu103=)
c.286_287delinsCT (p.Leu96=)
n.307_308delinsCT
c.478_479delinsCT (p.Leu160=)
1g.43338637delCA522806114MPLc.308del (p.Leu103ProfsTer9)
c.287del (p.Leu96ProfsTer9)
n.308del
c.479del (p.Leu160ProfsTer9)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.43338637T>ACA339973595MPLc.308T>A (p.Leu103His)
c.287T>A (p.Leu96His)
n.308T>A
c.479T>A (p.Leu160His)
1g.43338637T>CCA339973597MPLc.308T>C (p.Leu103Pro)
c.287T>C (p.Leu96Pro)
n.308T>C
c.479T>C (p.Leu160Pro)
 gnomAD v4
1g.43338637T>GCA339973599MPLc.308T>G (p.Leu103Arg)
c.287T>G (p.Leu96Arg)
n.308T>G
c.479T>G (p.Leu160Arg)
1g.43338638C>ACA417417438MPLc.309C>A (p.Leu103=)
c.288C>A (p.Leu96=)
n.309C>A
c.480C>A (p.Leu160=)
 ClinVar
1g.43338638C>GCA417417440MPLc.309C>G (p.Leu103=)
c.288C>G (p.Leu96=)
n.309C>G
c.480C>G (p.Leu160=)
1g.43338638C>TCA417417443MPLc.309C>T (p.Leu103=)
c.288C>T (p.Leu96=)
n.309C>T
c.480C>T (p.Leu160=)
1g.43338638_43338640delinsCTTCA1165576081MPLc.309_311delinsCTT (p.Leu103=)
c.288_290delinsCTT (p.Leu96=)
n.309_311delinsCTT
c.480_482delinsCTT (p.Leu160=)
1g.43338639T>ACA339973600MPLc.310T>A (p.Phe104Ile)
c.289T>A (p.Phe97Ile)
n.310T>A
c.481T>A (p.Phe161Ile)
1g.43338639T>CCA339973602MPLc.310T>C (p.Phe104Leu)
c.289T>C (p.Phe97Leu)
n.310T>C
c.481T>C (p.Phe161Leu)
1g.43338639T>GCA339973604MPLc.310T>G (p.Phe104Val)
c.289T>G (p.Phe97Val)
n.310T>G
c.481T>G (p.Phe161Val)
1g.43338639_43338640delCA522806115MPLc.310_311del (p.Phe104LeufsTer?)
c.289_290del (p.Phe97LeufsTer?)
n.310_311del
c.481_482del (p.Phe161LeufsTer?)
 dbSNP gnomAD v2 gnomAD v4
1g.43338640delCA2573132307MPLc.311del (p.Phe104SerfsTer8)
c.290del (p.Phe97SerfsTer8)
n.311del
c.482del (p.Phe161SerfsTer8)
 ClinVar dbSNP gnomAD v4
1g.43338642_43338645delCA2573051579MPLc.313_316del (p.Phe105ArgfsTer6)
c.292_295del (p.Phe98ArgfsTer6)
n.313_316del
c.484_487del (p.Phe162ArgfsTer6)
 ClinVar dbSNP
1g.43338640T>ACA339973606MPLc.311T>A (p.Phe104Tyr)
c.290T>A (p.Phe97Tyr)
n.311T>A
c.482T>A (p.Phe161Tyr)
1g.43338640T>CCA339973608MPLc.311T>C (p.Phe104Ser)
c.290T>C (p.Phe97Ser)
n.311T>C
c.482T>C (p.Phe161Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.43338640T>GCA339973610MPLc.311T>G (p.Phe104Cys)
c.290T>G (p.Phe97Cys)
n.311T>G
c.482T>G (p.Phe161Cys)
1g.43338640T=CA1165576082MPLc.311T= (p.Phe104=)
c.290T= (p.Phe97=)
n.311T=
c.482T= (p.Phe161=)
1g.43338641C>ACA339973612MPLc.312C>A (p.Phe104Leu)
c.291C>A (p.Phe97Leu)
n.312C>A
c.483C>A (p.Phe161Leu)
 gnomAD v4
1g.43338641C>GCA339973614MPLc.312C>G (p.Phe104Leu)
c.291C>G (p.Phe97Leu)
n.312C>G
c.483C>G (p.Phe161Leu)
1g.43338641C>TCA417417461MPLc.312C>T (p.Phe104=)
c.291C>T (p.Phe97=)
n.312C>T
c.483C>T (p.Phe161=)
 dbSNP COSMIC COSMIC
1g.43338642T>ACA339973616MPLc.313T>A (p.Phe105Ile)
c.292T>A (p.Phe98Ile)
n.313T>A
c.484T>A (p.Phe162Ile)
1g.43338642T>CCA806634MPLc.313T>C (p.Phe105Leu)
c.292T>C (p.Phe98Leu)
n.313T>C
c.484T>C (p.Phe162Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338642T>GCA339973618MPLc.313T>G (p.Phe105Val)
c.292T>G (p.Phe98Val)
n.313T>G
c.484T>G (p.Phe162Val)
1g.43338642T=CA1142046225MPLc.313T= (p.Phe105=)
c.292T= (p.Phe98=)
n.313T=
c.484T= (p.Phe162=)
1g.43338643T>ACA339973620MPLc.314T>A (p.Phe105Tyr)
c.293T>A (p.Phe98Tyr)
n.314T>A
c.485T>A (p.Phe162Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43338643T>CCA339973622MPLc.314T>C (p.Phe105Ser)
c.293T>C (p.Phe98Ser)
n.314T>C
c.485T>C (p.Phe162Ser)
1g.43338643T>GCA339973624MPLc.314T>G (p.Phe105Cys)
c.293T>G (p.Phe98Cys)
n.314T>G
c.485T>G (p.Phe162Cys)
1g.43338643T=CA1165576083MPLc.314T= (p.Phe105=)
c.293T= (p.Phe98=)
n.314T=
c.485T= (p.Phe162=)
1g.43338644T>ACA339973626MPLc.315T>A (p.Phe105Leu)
c.294T>A (p.Phe98Leu)
n.315T>A
c.486T>A (p.Phe162Leu)
1g.43338644T>CCA417417483MPLc.315T>C (p.Phe105=)
c.294T>C (p.Phe98=)
n.315T>C
c.486T>C (p.Phe162=)
 ClinVar dbSNP
1g.43338644T>GCA339973628MPLc.315T>G (p.Phe105Leu)
c.294T>G (p.Phe98Leu)
n.315T>G
c.486T>G (p.Phe162Leu)
1g.43338645C>ACA339973630MPLc.316C>A (p.Pro106Thr)
c.295C>A (p.Pro99Thr)
n.316C>A
c.487C>A (p.Pro163Thr)
1g.43338645C>GCA339973632MPLc.316C>G (p.Pro106Ala)
c.295C>G (p.Pro99Ala)
n.316C>G
c.487C>G (p.Pro163Ala)
 gnomAD v4
1g.43338645C>TCA339973634MPLc.316C>T (p.Pro106Ser)
c.295C>T (p.Pro99Ser)
n.316C>T
c.487C>T (p.Pro163Ser)
1g.43338646C>ACA339973636MPLc.317C>A (p.Pro106Gln)
c.296C>A (p.Pro99Gln)
n.317C>A
c.488C>A (p.Pro163Gln)
1g.43338646C=CA1165576084MPLc.317C= (p.Pro106=)
c.296C= (p.Pro99=)
n.317C=
c.488C= (p.Pro163=)
1g.43338646C>GCA806635MPLc.317C>G (p.Pro106Arg)
c.296C>G (p.Pro99Arg)
n.317C>G
c.488C>G (p.Pro163Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43338646C>TCA806636MPLc.317C>T (p.Pro106Leu)
c.296C>T (p.Pro99Leu)
n.317C>T
c.488C>T (p.Pro163Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.43338647G>ACA806637MPLc.318G>A (p.Pro106=)
c.297G>A (p.Pro99=)
n.318G>A
c.489G>A (p.Pro163=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338647G>CCA417417507MPLc.318G>C (p.Pro106=)
c.297G>C (p.Pro99=)
n.318G>C
c.489G>C (p.Pro163=)
1g.43338647G=CA1143700880MPLc.318G= (p.Pro106=)
c.297G= (p.Pro99=)
n.318G=
c.489G= (p.Pro163=)
1g.43338647G>TCA417417510MPLc.318G>T (p.Pro106=)
c.297G>T (p.Pro99=)
n.318G>T
c.489G>T (p.Pro163=)
1g.43338648C>ACA339973641MPLc.319C>A (p.Leu107Met)
c.298C>A (p.Leu100Met)
n.319C>A
c.490C>A (p.Leu164Met)
 dbSNP
1g.43338648C>GCA339973643MPLc.319C>G (p.Leu107Val)
c.298C>G (p.Leu100Val)
n.319C>G
c.490C>G (p.Leu164Val)
1g.43338648C>TCA417417518MPLc.319C>T (p.Leu107=)
c.298C>T (p.Leu100=)
n.319C>T
c.490C>T (p.Leu164=)
 dbSNP
1g.43338649T>ACA339973651MPLc.320T>A (p.Leu107Gln)
c.299T>A (p.Leu100Gln)
n.320T>A
c.491T>A (p.Leu164Gln)
1g.43338649T>CCA339973648MPLc.320T>C (p.Leu107Pro)
c.299T>C (p.Leu100Pro)
n.320T>C
c.491T>C (p.Leu164Pro)
1g.43338649T>GCA339973646MPLc.320T>G (p.Leu107Arg)
c.299T>G (p.Leu100Arg)
n.320T>G
c.491T>G (p.Leu164Arg)
1g.43338650G>ACA417417534MPLc.321G>A (p.Leu107=)
c.300G>A (p.Leu100=)
n.321G>A
c.492G>A (p.Leu164=)
 dbSNP
1g.43338650G>CCA417417537MPLc.321G>C (p.Leu107=)
c.300G>C (p.Leu100=)
n.321G>C
c.492G>C (p.Leu164=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43338650G=CA1165576085MPLc.321G= (p.Leu107=)
c.300G= (p.Leu100=)
n.321G=
c.492G= (p.Leu164=)
1g.43338650G>TCA417417540MPLc.321G>T (p.Leu107=)
c.300G>T (p.Leu100=)
n.321G>T
c.492G>T (p.Leu164=)
 gnomAD v4
1g.43338651C>ACA339973656MPLc.322C>A (p.His108Asn)
c.301C>A (p.His101Asn)
n.322C>A
c.493C>A (p.His165Asn)
1g.43338651C=CA1165576086MPLc.322C= (p.His108=)
c.301C= (p.His101=)
n.322C=
c.493C= (p.His165=)
1g.43338651C>GCA339973660MPLc.322C>G (p.His108Asp)
c.301C>G (p.His101Asp)
n.322C>G
c.493C>G (p.His165Asp)
1g.43338651C>TCA339973663MPLc.322C>T (p.His108Tyr)
c.301C>T (p.His101Tyr)
n.322C>T
c.493C>T (p.His165Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43338652A>CCA339973667MPLc.323A>C (p.His108Pro)
c.302A>C (p.His101Pro)
n.323A>C
c.494A>C (p.His165Pro)
1g.43338652A>GCA339973669MPLc.323A>G (p.His108Arg)
c.302A>G (p.His101Arg)
n.323A>G
c.494A>G (p.His165Arg)
1g.43338652A>TCA339973672MPLc.323A>T (p.His108Leu)
c.302A>T (p.His101Leu)
n.323A>T
c.494A>T (p.His165Leu)
1g.43338653C>ACA339973675MPLc.324C>A (p.His108Gln)
c.303C>A (p.His101Gln)
n.324C>A
c.495C>A (p.His165Gln)
1g.43338653C=CA1165576087MPLc.324C= (p.His108=)
c.303C= (p.His101=)
n.324C=
c.495C= (p.His165=)
1g.43338653C>GCA339973678MPLc.324C>G (p.His108Gln)
c.303C>G (p.His101Gln)
n.324C>G
c.495C>G (p.His165Gln)
1g.43338653C>TCA21607279MPLc.324C>T (p.His108=)
c.303C>T (p.His101=)
n.324C>T
c.495C>T (p.His165=)
 dbSNP
1g.43338654C>ACA339973680MPLc.325C>A (p.Leu109Ile)
c.304C>A (p.Leu102Ile)
n.325C>A
c.496C>A (p.Leu166Ile)
1g.43338654C=CA1143533040MPLc.325C= (p.Leu109=)
c.304C= (p.Leu102=)
n.325C=
c.496C= (p.Leu166=)
1g.43338654C>GCA339973682MPLc.325C>G (p.Leu109Val)
c.304C>G (p.Leu102Val)
n.325C>G
c.496C>G (p.Leu166Val)
1g.43338654C>TCA806638MPLc.325C>T (p.Leu109Phe)
c.304C>T (p.Leu102Phe)
n.325C>T
c.496C>T (p.Leu166Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338655T>ACA339973689MPLc.326T>A (p.Leu109His)
c.305T>A (p.Leu102His)
n.326T>A
c.497T>A (p.Leu166His)
 COSMIC COSMIC
1g.43338655T>CCA339973691MPLc.326T>C (p.Leu109Pro)
c.305T>C (p.Leu102Pro)
n.326T>C
c.497T>C (p.Leu166Pro)
1g.43338655T>GCA339973693MPLc.326T>G (p.Leu109Arg)
c.305T>G (p.Leu102Arg)
n.326T>G
c.497T>G (p.Leu166Arg)
1g.43338656C>ACA417417574MPLc.327C>A (p.Leu109=)
c.306C>A (p.Leu102=)
n.327C>A
c.498C>A (p.Leu166=)
1g.43338656C=CA1165576088MPLc.327C= (p.Leu109=)
c.306C= (p.Leu102=)
n.327C=
c.498C= (p.Leu166=)
1g.43338656C>GCA21607284MPLc.327C>G (p.Leu109=)
c.306C>G (p.Leu102=)
n.327C>G
c.498C>G (p.Leu166=)
 dbSNP gnomAD v4
1g.43338656C>TCA417417577MPLc.327C>T (p.Leu109=)
c.306C>T (p.Leu102=)
n.327C>T
c.498C>T (p.Leu166=)
1g.43338657T>ACA339973705MPLc.328T>A (p.Trp110Arg)
c.307T>A (p.Trp103Arg)
n.328T>A
c.499T>A (p.Trp167Arg)
1g.43338657T>CCA339973702MPLc.328T>C (p.Trp110Arg)
c.307T>C (p.Trp103Arg)
n.328T>C
c.499T>C (p.Trp167Arg)
 dbSNP gnomAD v4
1g.43338657T>GCA339973699MPLc.328T>G (p.Trp110Gly)
c.307T>G (p.Trp103Gly)
n.328T>G
c.499T>G (p.Trp167Gly)
1g.43338657T=CA1165576089MPLc.328T= (p.Trp110=)
c.307T= (p.Trp103=)
n.328T=
c.499T= (p.Trp167=)
1g.43338658G>ACA339973709MPLc.329G>A (p.Trp110Ter)
c.308G>A (p.Trp103Ter)
n.329G>A
c.500G>A (p.Trp167Ter)
 dbSNP gnomAD v4
1g.43338658G>CCA339973713MPLc.329G>C (p.Trp110Ser)
c.308G>C (p.Trp103Ser)
n.329G>C
c.500G>C (p.Trp167Ser)
1g.43338658G=CA1165576090MPLc.329G= (p.Trp110=)
c.308G= (p.Trp103=)
n.329G=
c.500G= (p.Trp167=)
1g.43338658G>TCA339973716MPLc.329G>T (p.Trp110Leu)
c.308G>T (p.Trp103Leu)
n.329G>T
c.500G>T (p.Trp167Leu)
 dbSNP
1g.43338659G>ACA339973720MPLc.330G>A (p.Trp110Ter)
c.309G>A (p.Trp103Ter)
n.330G>A
c.501G>A (p.Trp167Ter)
1g.43338659G>CCA339973723MPLc.330G>C (p.Trp110Cys)
c.309G>C (p.Trp103Cys)
n.330G>C
c.501G>C (p.Trp167Cys)
1g.43338659G>TCA339973726MPLc.330G>T (p.Trp110Cys)
c.309G>T (p.Trp103Cys)
n.330G>T
c.501G>T (p.Trp167Cys)
1g.43338660G>ACA339973736MPLc.331G>A (p.Val111Met)
c.310G>A (p.Val104Met)
n.331G>A
c.502G>A (p.Val168Met)
1g.43338660G>CCA339973733MPLc.331G>C (p.Val111Leu)
c.310G>C (p.Val104Leu)
n.331G>C
c.502G>C (p.Val168Leu)
 gnomAD v4
1g.43338660G>TCA339973730MPLc.331G>T (p.Val111Leu)
c.310G>T (p.Val104Leu)
n.331G>T
c.502G>T (p.Val168Leu)
1g.43338661T>ACA339973738MPLc.332T>A (p.Val111Glu)
c.311T>A (p.Val104Glu)
n.332T>A
c.503T>A (p.Val168Glu)
1g.43338661T>CCA339973740MPLc.332T>C (p.Val111Ala)
c.311T>C (p.Val104Ala)
n.332T>C
c.503T>C (p.Val168Ala)
1g.43338661T>GCA339973744MPLc.332T>G (p.Val111Gly)
c.311T>G (p.Val104Gly)
n.332T>G
c.503T>G (p.Val168Gly)
1g.43338662G>ACA417417612MPLc.333G>A (p.Val111=)
c.312G>A (p.Val104=)
n.333G>A
c.504G>A (p.Val168=)
 ClinVar dbSNP gnomAD v4
1g.43338662G>CCA417417613MPLc.333G>C (p.Val111=)
c.312G>C (p.Val104=)
n.333G>C
c.504G>C (p.Val168=)
1g.43338662G=CA1165576091MPLc.333G= (p.Val111=)
c.312G= (p.Val104=)
n.333G=
c.504G= (p.Val168=)
1g.43338662G>TCA417417614MPLc.333G>T (p.Val111=)
c.312G>T (p.Val104=)
n.333G>T
c.504G>T (p.Val168=)
1g.43338665_43338667delCA2522362218MPLc.336_338del (p.Lys112del)
c.315_317del (p.Lys105del)
n.336_338del
c.507_509del (p.Lys169del)
 gnomAD v4
1g.43338663A>CCA339973747MPLc.334A>C (p.Lys112Gln)
c.313A>C (p.Lys105Gln)
n.334A>C
c.505A>C (p.Lys169Gln)
1g.43338663A>GCA339973749MPLc.334A>G (p.Lys112Glu)
c.313A>G (p.Lys105Glu)
n.334A>G
c.505A>G (p.Lys169Glu)
1g.43338663A>TCA339973753MPLc.334A>T (p.Lys112Ter)
c.313A>T (p.Lys105Ter)
n.334A>T
c.505A>T (p.Lys169Ter)
1g.43338664A>CCA339973759MPLc.335A>C (p.Lys112Thr)
c.314A>C (p.Lys105Thr)
n.335A>C
c.506A>C (p.Lys169Thr)
1g.43338664A>GCA339973764MPLc.335A>G (p.Lys112Arg)
c.314A>G (p.Lys105Arg)
n.335A>G
c.506A>G (p.Lys169Arg)
1g.43338664A>TCA339973762MPLc.335A>T (p.Lys112Met)
c.314A>T (p.Lys105Met)
n.335A>T
c.506A>T (p.Lys169Met)
1g.43338665G>ACA417417630MPLc.336G>A (p.Lys112=)
c.315G>A (p.Lys105=)
n.336G>A
c.507G>A (p.Lys169=)
1g.43338665G>CCA339973769MPLc.336G>C (p.Lys112Asn)
c.315G>C (p.Lys105Asn)
n.336G>C
c.507G>C (p.Lys169Asn)
1g.43338665G>TCA339973771MPLc.336G>T (p.Lys112Asn)
c.315G>T (p.Lys105Asn)
n.336G>T
c.507G>T (p.Lys169Asn)
1g.43338666A=CA1165576092MPLc.337A= (p.Asn113=)
c.316A= (p.Asn106=)
n.337A=
c.508A= (p.Asn170=)
1g.43338666A>CCA339973775MPLc.337A>C (p.Asn113His)
c.316A>C (p.Asn106His)
n.337A>C
c.508A>C (p.Asn170His)
1g.43338666A>GCA339973778MPLc.337A>G (p.Asn113Asp)
c.316A>G (p.Asn106Asp)
n.337A>G
c.508A>G (p.Asn170Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.43338666A>TCA339973781MPLc.337A>T (p.Asn113Tyr)
c.316A>T (p.Asn106Tyr)
n.337A>T
c.508A>T (p.Asn170Tyr)
1g.43338667A=CA1165576093MPLc.338A= (p.Asn113=)
c.317A= (p.Asn106=)
n.338A=
c.509A= (p.Asn170=)
1g.43338667A>CCA339973785MPLc.338A>C (p.Asn113Thr)
c.317A>C (p.Asn106Thr)
n.338A>C
c.509A>C (p.Asn170Thr)
1g.43338667A>GCA339973788MPLc.338A>G (p.Asn113Ser)
c.317A>G (p.Asn106Ser)
n.338A>G
c.509A>G (p.Asn170Ser)
 gnomAD v4
1g.43338667A>TCA339973791MPLc.338A>T (p.Asn113Ile)
c.317A>T (p.Asn106Ile)
n.338A>T
c.509A>T (p.Asn170Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43338668T>ACA339973793MPLc.339T>A (p.Asn113Lys)
c.318T>A (p.Asn106Lys)
n.339T>A
c.510T>A (p.Asn170Lys)
1g.43338668T>CCA21607288MPLc.339T>C (p.Asn113=)
c.318T>C (p.Asn106=)
n.339T>C
c.510T>C (p.Asn170=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43338668T>GCA339973797MPLc.339T>G (p.Asn113Lys)
c.318T>G (p.Asn106Lys)
n.339T>G
c.510T>G (p.Asn170Lys)
1g.43338668T=CA1141867571MPLc.339T= (p.Asn113=)
c.318T= (p.Asn106=)
n.339T=
c.510T= (p.Asn170=)
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)

Number of alleles fetched