Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.151186556_151186567delCA4573887ASB10c.413_424del (p.Arg138_Arg141del)
c.368_379del (p.Arg123_Arg126del)
c.548_559del (p.Arg183_Arg186del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186567T>ACA370036276ASB10c.409A>T (p.Arg137Trp)
c.364A>T (p.Arg122Trp)
c.544A>T (p.Arg182Trp)
7g.151186567T>CCA370036277ASB10c.409A>G (p.Arg137Gly)
c.364A>G (p.Arg122Gly)
c.544A>G (p.Arg182Gly)
7g.151186567T>GCA458881615ASB10c.409A>C (p.Arg137=)
c.364A>C (p.Arg122=)
c.544A>C (p.Arg182=)
7g.151186568C>ACA458881616ASB10c.408G>T (p.Leu136=)
c.363G>T (p.Leu121=)
c.543G>T (p.Leu181=)
gnomAD v4
7g.151186568C=CA1752545157ASB10c.408G= (p.Leu136=)
c.363G= (p.Leu121=)
c.543G= (p.Leu181=)
7g.151186568C>GCA458881617ASB10c.408G>C (p.Leu136=)
c.363G>C (p.Leu121=)
c.543G>C (p.Leu181=)
7g.151186568C>TCA458881618ASB10c.408G>A (p.Leu136=)
c.363G>A (p.Leu121=)
c.543G>A (p.Leu181=)
dbSNP gnomAD v3 gnomAD v4
7g.151186569A=CA1752545160ASB10c.407T= (p.Leu136=)
c.362T= (p.Leu121=)
c.542T= (p.Leu181=)
7g.151186569A>CCA4573894ASB10c.407T>G (p.Leu136Arg)
c.362T>G (p.Leu121Arg)
c.542T>G (p.Leu181Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.151186569A>GCA4573895ASB10c.407T>C (p.Leu136Pro)
c.362T>C (p.Leu121Pro)
c.542T>C (p.Leu181Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.151186569A>TCA370036279ASB10c.407T>A (p.Leu136Gln)
c.362T>A (p.Leu121Gln)
c.542T>A (p.Leu181Gln)
dbSNP
7g.151186570G>ACA458881621ASB10c.406C>T (p.Leu136=)
c.361C>T (p.Leu121=)
c.541C>T (p.Leu181=)
dbSNP gnomAD v3 gnomAD v4
7g.151186570G>CCA370036282ASB10c.406C>G (p.Leu136Val)
c.361C>G (p.Leu121Val)
c.541C>G (p.Leu181Val)
7g.151186570G=CA1752545164ASB10c.406C= (p.Leu136=)
c.361C= (p.Leu121=)
c.541C= (p.Leu181=)
7g.151186570G>TCA370036283ASB10c.406C>A (p.Leu136Met)
c.361C>A (p.Leu121Met)
c.541C>A (p.Leu181Met)
7g.151186571C>ACA458881622ASB10c.405G>T (p.Leu135=)
c.360G>T (p.Leu120=)
c.540G>T (p.Leu180=)
7g.151186571C>GCA458881623ASB10c.405G>C (p.Leu135=)
c.360G>C (p.Leu120=)
c.540G>C (p.Leu180=)
7g.151186571C>TCA458881624ASB10c.405G>A (p.Leu135=)
c.360G>A (p.Leu120=)
c.540G>A (p.Leu180=)
gnomAD v4
7g.151186572A>CCA370036284ASB10c.404T>G (p.Leu135Arg)
c.359T>G (p.Leu120Arg)
c.539T>G (p.Leu180Arg)
7g.151186572A>GCA370036286ASB10c.404T>C (p.Leu135Pro)
c.359T>C (p.Leu120Pro)
c.539T>C (p.Leu180Pro)
7g.151186572A>TCA370036287ASB10c.404T>A (p.Leu135Gln)
c.359T>A (p.Leu120Gln)
c.539T>A (p.Leu180Gln)
7g.151186573G>ACA458881627ASB10c.403C>T (p.Leu135=)
c.358C>T (p.Leu120=)
c.538C>T (p.Leu180=)
COSMIC COSMIC COSMIC COSMIC
7g.151186573G>CCA370036289ASB10c.403C>G (p.Leu135Val)
c.358C>G (p.Leu120Val)
c.538C>G (p.Leu180Val)
7g.151186573G>TCA370036291ASB10c.403C>A (p.Leu135Met)
c.358C>A (p.Leu120Met)
c.538C>A (p.Leu180Met)
7g.151186574C>ACA458881631ASB10c.402G>T (p.Leu134=)
c.357G>T (p.Leu119=)
c.537G>T (p.Leu179=)
dbSNP gnomAD v2 gnomAD v4
7g.151186574C=CA1752545166ASB10c.402G= (p.Leu134=)
c.357G= (p.Leu119=)
c.537G= (p.Leu179=)
7g.151186574C>GCA458881629ASB10c.402G>C (p.Leu134=)
c.357G>C (p.Leu119=)
c.537G>C (p.Leu179=)
7g.151186574C>TCA458881628ASB10c.402G>A (p.Leu134=)
c.357G>A (p.Leu119=)
c.537G>A (p.Leu179=)
7g.151186575A>CCA370036293ASB10c.401T>G (p.Leu134Arg)
c.356T>G (p.Leu119Arg)
c.536T>G (p.Leu179Arg)
7g.151186575A>GCA370036295ASB10c.401T>C (p.Leu134Pro)
c.356T>C (p.Leu119Pro)
c.536T>C (p.Leu179Pro)
7g.151186575A>TCA370036297ASB10c.401T>A (p.Leu134Gln)
c.356T>A (p.Leu119Gln)
c.536T>A (p.Leu179Gln)
7g.151186576G>ACA458881634ASB10c.400C>T (p.Leu134=)
c.355C>T (p.Leu119=)
c.535C>T (p.Leu179=)
7g.151186576G>CCA370036299ASB10c.400C>G (p.Leu134Val)
c.355C>G (p.Leu119Val)
c.535C>G (p.Leu179Val)
dbSNP gnomAD v3 gnomAD v4
7g.151186576G=CA1752545170ASB10c.400C= (p.Leu134=)
c.355C= (p.Leu119=)
c.535C= (p.Leu179=)
7g.151186576G>TCA4573896ASB10c.400C>A (p.Leu134Met)
c.355C>A (p.Leu119Met)
c.535C>A (p.Leu179Met)
dbSNP ExAC gnomAD v2
7g.151186577C>ACA458881635ASB10c.399G>T (p.Arg133=)
c.354G>T (p.Arg118=)
c.534G>T (p.Arg178=)
gnomAD v4
7g.151186577C=CA1752545177ASB10c.399G= (p.Arg133=)
c.354G= (p.Arg118=)
c.534G= (p.Arg178=)
7g.151186577C>GCA458881636ASB10c.399G>C (p.Arg133=)
c.354G>C (p.Arg118=)
c.534G>C (p.Arg178=)
dbSNP gnomAD v2
7g.151186577C>TCA458881638ASB10c.399G>A (p.Arg133=)
c.354G>A (p.Arg118=)
c.534G>A (p.Arg178=)
gnomAD v4
7g.151186578dupCA2579066555ASB10c.399dup (p.Leu134AlafsTer?)
c.354dup (p.Leu119AlafsTer?)
c.534dup (p.Leu179AlafsTer?)
7g.151186578C>ACA169125417ASB10c.398G>T (p.Arg133Leu)
c.353G>T (p.Arg118Leu)
c.533G>T (p.Arg178Leu)
dbSNP gnomAD v4
7g.151186578C=CA1752545180ASB10c.398G= (p.Arg133=)
c.353G= (p.Arg118=)
c.533G= (p.Arg178=)
7g.151186578C>GCA370036303ASB10c.398G>C (p.Arg133Pro)
c.353G>C (p.Arg118Pro)
c.533G>C (p.Arg178Pro)
7g.151186578C>TCA4573897ASB10c.398G>A (p.Arg133Gln)
c.353G>A (p.Arg118Gln)
c.533G>A (p.Arg178Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186579G>ACA4573898ASB10c.397C>T (p.Arg133Trp)
c.352C>T (p.Arg118Trp)
c.532C>T (p.Arg178Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
7g.151186579G>CCA370036307ASB10c.397C>G (p.Arg133Gly)
c.352C>G (p.Arg118Gly)
c.532C>G (p.Arg178Gly)
7g.151186579G=CA1752545186ASB10c.397C= (p.Arg133=)
c.352C= (p.Arg118=)
c.532C= (p.Arg178=)
7g.151186579G>TCA458881642ASB10c.397C>A (p.Arg133=)
c.352C>A (p.Arg118=)
c.532C>A (p.Arg178=)
dbSNP gnomAD v4
7g.151186580C>ACA458881643ASB10c.396G>T (p.Leu132=)
c.351G>T (p.Leu117=)
c.531G>T (p.Leu177=)
7g.151186580C=CA1752545192ASB10c.396G= (p.Leu132=)
c.351G= (p.Leu117=)
c.531G= (p.Leu177=)
7g.151186580C>GCA458881645ASB10c.396G>C (p.Leu132=)
c.351G>C (p.Leu117=)
c.531G>C (p.Leu177=)
7g.151186580C>TCA458881644ASB10c.396G>A (p.Leu132=)
c.351G>A (p.Leu117=)
c.531G>A (p.Leu177=)
dbSNP gnomAD v2 gnomAD v4
7g.151186581A>CCA370036309ASB10c.395T>G (p.Leu132Arg)
c.350T>G (p.Leu117Arg)
c.530T>G (p.Leu177Arg)
7g.151186581A>GCA370036311ASB10c.395T>C (p.Leu132Pro)
c.350T>C (p.Leu117Pro)
c.530T>C (p.Leu177Pro)
7g.151186581A>TCA370036313ASB10c.395T>A (p.Leu132Gln)
c.350T>A (p.Leu117Gln)
c.530T>A (p.Leu177Gln)
7g.151186581dupCA1752545197ASB10c.395dup (p.Arg133AlafsTer?)
c.350dup (p.Arg118AlafsTer?)
c.530dup (p.Arg178AlafsTer?)
dbSNP
7g.151186582G>ACA458881649ASB10c.394C>T (p.Leu132=)
c.349C>T (p.Leu117=)
c.529C>T (p.Leu177=)
7g.151186582G>CCA370036314ASB10c.394C>G (p.Leu132Val)
c.349C>G (p.Leu117Val)
c.529C>G (p.Leu177Val)
7g.151186582G>TCA370036316ASB10c.394C>A (p.Leu132Met)
c.349C>A (p.Leu117Met)
c.529C>A (p.Leu177Met)
7g.151186583G>ACA458881650ASB10c.393C>T (p.Val131=)
c.348C>T (p.Val116=)
c.528C>T (p.Val176=)
7g.151186583G>CCA458881651ASB10c.393C>G (p.Val131=)
c.348C>G (p.Val116=)
c.528C>G (p.Val176=)
7g.151186583G>TCA458881652ASB10c.393C>A (p.Val131=)
c.348C>A (p.Val116=)
c.528C>A (p.Val176=)
7g.151186584A=CA1752545201ASB10c.392T= (p.Val131=)
c.347T= (p.Val116=)
c.527T= (p.Val176=)
7g.151186584A>CCA370036318ASB10c.392T>G (p.Val131Gly)
c.347T>G (p.Val116Gly)
c.527T>G (p.Val176Gly)
7g.151186584A>GCA4573899ASB10c.392T>C (p.Val131Ala)
c.347T>C (p.Val116Ala)
c.527T>C (p.Val176Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186584A>TCA370036320ASB10c.392T>A (p.Val131Asp)
c.347T>A (p.Val116Asp)
c.527T>A (p.Val176Asp)
7g.151186585C>ACA370036322ASB10c.391G>T (p.Val131Phe)
c.346G>T (p.Val116Phe)
c.526G>T (p.Val176Phe)
7g.151186585C>GCA370036324ASB10c.391G>C (p.Val131Leu)
c.346G>C (p.Val116Leu)
c.526G>C (p.Val176Leu)
7g.151186585C>TCA370036325ASB10c.391G>A (p.Val131Ile)
c.346G>A (p.Val116Ile)
c.526G>A (p.Val176Ile)
7g.151186586T>ACA370036328ASB10c.390A>T (p.Glu130Asp)
c.345A>T (p.Glu115Asp)
c.525A>T (p.Glu175Asp)
7g.151186586T>CCA458881654ASB10c.390A>G (p.Glu130=)
c.345A>G (p.Glu115=)
c.525A>G (p.Glu175=)
7g.151186586T>GCA370036327ASB10c.390A>C (p.Glu130Asp)
c.345A>C (p.Glu115Asp)
c.525A>C (p.Glu175Asp)
7g.151186587T>ACA370036331ASB10c.389A>T (p.Glu130Val)
c.344A>T (p.Glu115Val)
c.524A>T (p.Glu175Val)
7g.151186587T>CCA4573900ASB10c.389A>G (p.Glu130Gly)
c.344A>G (p.Glu115Gly)
c.524A>G (p.Glu175Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186587T>GCA370036333ASB10c.389A>C (p.Glu130Ala)
c.344A>C (p.Glu115Ala)
c.524A>C (p.Glu175Ala)
7g.151186587T=CA1752545207ASB10c.389A= (p.Glu130=)
c.344A= (p.Glu115=)
c.524A= (p.Glu175=)
7g.151186587_151186588insTGCA2685657520ASB10c.388_389insCA (p.Glu130AlafsTer8)
c.343_344insCA (p.Glu115AlafsTer8)
c.523_524insCA (p.Glu175AlafsTer8)
gnomAD v4
7g.151186588C>ACA370036336ASB10c.388G>T (p.Glu130Ter)
c.343G>T (p.Glu115Ter)
c.523G>T (p.Glu175Ter)
7g.151186588C>GCA370036337ASB10c.388G>C (p.Glu130Gln)
c.343G>C (p.Glu115Gln)
c.523G>C (p.Glu175Gln)
7g.151186588C>TCA370036339ASB10c.388G>A (p.Glu130Lys)
c.343G>A (p.Glu115Lys)
c.523G>A (p.Glu175Lys)
gnomAD v4 COSMIC COSMIC COSMIC COSMIC
7g.151186589delCA2685657521ASB10c.388del (p.Glu130LysfsTer7)
c.343del (p.Glu115LysfsTer7)
c.523del (p.Glu175LysfsTer7)
gnomAD v4
7g.151186589C>ACA458881656ASB10c.387G>T (p.Thr129=)
c.342G>T (p.Thr114=)
c.522G>T (p.Thr174=)
7g.151186589C=CA1752545210ASB10c.387G= (p.Thr129=)
c.342G= (p.Thr114=)
c.522G= (p.Thr174=)
7g.151186589C>GCA458881655ASB10c.387G>C (p.Thr129=)
c.342G>C (p.Thr114=)
c.522G>C (p.Thr174=)
7g.151186589C>TCA169125436ASB10c.387G>A (p.Thr129=)
c.342G>A (p.Thr114=)
c.522G>A (p.Thr174=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151186590G>ACA4573901ASB10c.386C>T (p.Thr129Met)
c.341C>T (p.Thr114Met)
c.521C>T (p.Thr174Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186590G>CCA370036343ASB10c.386C>G (p.Thr129Arg)
c.341C>G (p.Thr114Arg)
c.521C>G (p.Thr174Arg)
gnomAD v4
7g.151186590G=CA1752545218ASB10c.386C= (p.Thr129=)
c.341C= (p.Thr114=)
c.521C= (p.Thr174=)
7g.151186590G>TCA370036345ASB10c.386C>A (p.Thr129Lys)
c.341C>A (p.Thr114Lys)
c.521C>A (p.Thr174Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151186591T>ACA370036347ASB10c.385A>T (p.Thr129Ser)
c.340A>T (p.Thr114Ser)
c.520A>T (p.Thr174Ser)
7g.151186591T>CCA370036348ASB10c.385A>G (p.Thr129Ala)
c.340A>G (p.Thr114Ala)
c.520A>G (p.Thr174Ala)
gnomAD v4
7g.151186591T>GCA370036349ASB10c.385A>C (p.Thr129Pro)
c.340A>C (p.Thr114Pro)
c.520A>C (p.Thr174Pro)
7g.151186592G>ACA458881657ASB10c.384C>T (p.His128=)
c.339C>T (p.His113=)
c.519C>T (p.His173=)
7g.151186592G>CCA370036350ASB10c.384C>G (p.His128Gln)
c.339C>G (p.His113Gln)
c.519C>G (p.His173Gln)
7g.151186592G>TCA370036351ASB10c.384C>A (p.His128Gln)
c.339C>A (p.His113Gln)
c.519C>A (p.His173Gln)
7g.151186593T>ACA370036352ASB10c.383A>T (p.His128Leu)
c.338A>T (p.His113Leu)
c.518A>T (p.His173Leu)
7g.151186593T>CCA370036353ASB10c.383A>G (p.His128Arg)
c.338A>G (p.His113Arg)
c.518A>G (p.His173Arg)
7g.151186593T>GCA4573902ASB10c.383A>C (p.His128Pro)
c.338A>C (p.His113Pro)
c.518A>C (p.His173Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.151186593T=CA1752545221ASB10c.383A= (p.His128=)
c.338A= (p.His113=)
c.518A= (p.His173=)
7g.151186597_151186606delCA2778433434ASB10c.374_383del (p.Ser125ThrfsTer9)
c.329_338del (p.Ser110ThrfsTer9)
c.509_518del (p.Ser170ThrfsTer9)
7g.151186594G>ACA370036354ASB10c.382C>T (p.His128Tyr)
c.337C>T (p.His113Tyr)
c.517C>T (p.His173Tyr)
7g.151186594G>CCA370036356ASB10c.382C>G (p.His128Asp)
c.337C>G (p.His113Asp)
c.517C>G (p.His173Asp)
7g.151186594G>TCA370036355ASB10c.382C>A (p.His128Asn)
c.337C>A (p.His113Asn)
c.517C>A (p.His173Asn)
7g.151186595G>ACA458881661ASB10c.381C>T (p.Gly127=)
c.336C>T (p.Gly112=)
c.516C>T (p.Gly172=)
gnomAD v4
7g.151186595G>CCA458881662ASB10c.381C>G (p.Gly127=)
c.336C>G (p.Gly112=)
c.516C>G (p.Gly172=)
7g.151186595G>TCA458881663ASB10c.381C>A (p.Gly127=)
c.336C>A (p.Gly112=)
c.516C>A (p.Gly172=)
gnomAD v4
7g.151186596C>ACA370036357ASB10c.380G>T (p.Gly127Val)
c.335G>T (p.Gly112Val)
c.515G>T (p.Gly172Val)
gnomAD v4
7g.151186596C=CA1752545226ASB10c.380G= (p.Gly127=)
c.335G= (p.Gly112=)
c.515G= (p.Gly172=)
7g.151186596C>GCA370036358ASB10c.380G>C (p.Gly127Ala)
c.335G>C (p.Gly112Ala)
c.515G>C (p.Gly172Ala)
7g.151186596C>TCA370036359ASB10c.380G>A (p.Gly127Asp)
c.335G>A (p.Gly112Asp)
c.515G>A (p.Gly172Asp)
dbSNP
7g.151186597C>ACA370036360ASB10c.379G>T (p.Gly127Cys)
c.334G>T (p.Gly112Cys)
c.514G>T (p.Gly172Cys)
7g.151186597C>GCA370036361ASB10c.379G>C (p.Gly127Arg)
c.334G>C (p.Gly112Arg)
c.514G>C (p.Gly172Arg)
7g.151186597C>TCA370036362ASB10c.379G>A (p.Gly127Ser)
c.334G>A (p.Gly112Ser)
c.514G>A (p.Gly172Ser)
7g.151186598A=CA1752545229ASB10c.378T= (p.Arg126=)
c.333T= (p.Arg111=)
c.513T= (p.Arg171=)
7g.151186598A>CCA458881667ASB10c.378T>G (p.Arg126=)
c.333T>G (p.Arg111=)
c.513T>G (p.Arg171=)
7g.151186598A>GCA458881668ASB10c.378T>C (p.Arg126=)
c.333T>C (p.Arg111=)
c.513T>C (p.Arg171=)
gnomAD v4
7g.151186598A>TCA458881669ASB10c.378T>A (p.Arg126=)
c.333T>A (p.Arg111=)
c.513T>A (p.Arg171=)
dbSNP gnomAD v3 gnomAD v4
7g.151186599C>ACA370036363ASB10c.377G>T (p.Arg126Leu)
c.332G>T (p.Arg111Leu)
c.512G>T (p.Arg171Leu)
7g.151186599C=CA1752545239ASB10c.377G= (p.Arg126=)
c.332G= (p.Arg111=)
c.512G= (p.Arg171=)
7g.151186599C>GCA370036364ASB10c.377G>C (p.Arg126Pro)
c.332G>C (p.Arg111Pro)
c.512G>C (p.Arg171Pro)
gnomAD v4
7g.151186599C>TCA4573903ASB10c.377G>A (p.Arg126His)
c.332G>A (p.Arg111His)
c.512G>A (p.Arg171His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186600G>ACA4573904ASB10c.376C>T (p.Arg126Cys)
c.331C>T (p.Arg111Cys)
c.511C>T (p.Arg171Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186600G>CCA370036365ASB10c.376C>G (p.Arg126Gly)
c.331C>G (p.Arg111Gly)
c.511C>G (p.Arg171Gly)
7g.151186600G=CA1752545243ASB10c.376C= (p.Arg126=)
c.331C= (p.Arg111=)
c.511C= (p.Arg171=)
7g.151186600G>TCA370036366ASB10c.376C>A (p.Arg126Ser)
c.331C>A (p.Arg111Ser)
c.511C>A (p.Arg171Ser)
7g.151186601G>ACA458881670ASB10c.375C>T (p.Ser125=)
c.330C>T (p.Ser110=)
c.510C>T (p.Ser170=)
gnomAD v4
7g.151186601G>CCA370036367ASB10c.375C>G (p.Ser125Arg)
c.330C>G (p.Ser110Arg)
c.510C>G (p.Ser170Arg)
7g.151186601G>TCA370036368ASB10c.375C>A (p.Ser125Arg)
c.330C>A (p.Ser110Arg)
c.510C>A (p.Ser170Arg)
7g.151186602C>ACA370036369ASB10c.374G>T (p.Ser125Ile)
c.329G>T (p.Ser110Ile)
c.509G>T (p.Ser170Ile)
7g.151186602C=CA1752545247ASB10c.374G= (p.Ser125=)
c.329G= (p.Ser110=)
c.509G= (p.Ser170=)
7g.151186602C>GCA370036370ASB10c.374G>C (p.Ser125Thr)
c.329G>C (p.Ser110Thr)
c.509G>C (p.Ser170Thr)
dbSNP gnomAD v2 gnomAD v4
7g.151186602C>TCA370036371ASB10c.374G>A (p.Ser125Asn)
c.329G>A (p.Ser110Asn)
c.509G>A (p.Ser170Asn)
7g.151186603T>ACA370036372ASB10c.373A>T (p.Ser125Cys)
c.328A>T (p.Ser110Cys)
c.508A>T (p.Ser170Cys)
7g.151186603T>CCA370036373ASB10c.373A>G (p.Ser125Gly)
c.328A>G (p.Ser110Gly)
c.508A>G (p.Ser170Gly)
7g.151186603T>GCA370036374ASB10c.373A>C (p.Ser125Arg)
c.328A>C (p.Ser110Arg)
c.508A>C (p.Ser170Arg)
7g.151186604G>ACA4573905ASB10c.372C>T (p.Ala124=)
c.327C>T (p.Ala109=)
c.507C>T (p.Ala169=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186604G>CCA458881674ASB10c.372C>G (p.Ala124=)
c.327C>G (p.Ala109=)
c.507C>G (p.Ala169=)
7g.151186604G=CA1752545252ASB10c.372C= (p.Ala124=)
c.327C= (p.Ala109=)
c.507C= (p.Ala169=)
7g.151186604G>TCA458881675ASB10c.372C>A (p.Ala124=)
c.327C>A (p.Ala109=)
c.507C>A (p.Ala169=)
7g.151186605G>ACA4573907ASB10c.371C>T (p.Ala124Val)
c.326C>T (p.Ala109Val)
c.506C>T (p.Ala169Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186605G>CCA4573906ASB10c.371C>G (p.Ala124Gly)
c.326C>G (p.Ala109Gly)
c.506C>G (p.Ala169Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186605G=CA1752545256ASB10c.371C= (p.Ala124=)
c.326C= (p.Ala109=)
c.506C= (p.Ala169=)
7g.151186605G>TCA370036375ASB10c.371C>A (p.Ala124Asp)
c.326C>A (p.Ala109Asp)
c.506C>A (p.Ala169Asp)
7g.151186606C>ACA370036377ASB10c.370G>T (p.Ala124Ser)
c.325G>T (p.Ala109Ser)
c.505G>T (p.Ala169Ser)
gnomAD v4
7g.151186606C=CA1752545263ASB10c.370G= (p.Ala124=)
c.325G= (p.Ala109=)
c.505G= (p.Ala169=)
7g.151186606C>GCA169125452ASB10c.370G>C (p.Ala124Pro)
c.325G>C (p.Ala109Pro)
c.505G>C (p.Ala169Pro)
dbSNP gnomAD v4
7g.151186606C>TCA370036376ASB10c.370G>A (p.Ala124Thr)
c.325G>A (p.Ala109Thr)
c.505G>A (p.Ala169Thr)
7g.151186607T>ACA458881679ASB10c.369A>T (p.Ala123=)
c.324A>T (p.Ala108=)
c.504A>T (p.Ala168=)
7g.151186607T>CCA458881680ASB10c.369A>G (p.Ala123=)
c.324A>G (p.Ala108=)
c.504A>G (p.Ala168=)
7g.151186607T>GCA458881681ASB10c.369A>C (p.Ala123=)
c.324A>C (p.Ala108=)
c.504A>C (p.Ala168=)
7g.151186608G>ACA370036378ASB10c.368C>T (p.Ala123Val)
c.323C>T (p.Ala108Val)
c.503C>T (p.Ala168Val)
7g.151186608G>CCA370036379ASB10c.368C>G (p.Ala123Gly)
c.323C>G (p.Ala108Gly)
c.503C>G (p.Ala168Gly)
7g.151186608G>TCA370036380ASB10c.368C>A (p.Ala123Glu)
c.323C>A (p.Ala108Glu)
c.503C>A (p.Ala168Glu)
7g.151186609C>ACA370036381ASB10c.367G>T (p.Ala123Ser)
c.322G>T (p.Ala108Ser)
c.502G>T (p.Ala168Ser)
7g.151186609C>GCA370036382ASB10c.367G>C (p.Ala123Pro)
c.322G>C (p.Ala108Pro)
c.502G>C (p.Ala168Pro)
7g.151186609C>TCA370036383ASB10c.367G>A (p.Ala123Thr)
c.322G>A (p.Ala108Thr)
c.502G>A (p.Ala168Thr)
gnomAD v4
7g.151186610C>ACA458881686ASB10c.366G>T (p.Val122=)
c.321G>T (p.Val107=)
c.501G>T (p.Val167=)
7g.151186610C>GCA458881684ASB10c.366G>C (p.Val122=)
c.321G>C (p.Val107=)
c.501G>C (p.Val167=)
7g.151186610C>TCA458881682ASB10c.366G>A (p.Val122=)
c.321G>A (p.Val107=)
c.501G>A (p.Val167=)
gnomAD v4
7g.151186611A=CA1752545268ASB10c.365T= (p.Val122=)
c.320T= (p.Val107=)
c.500T= (p.Val167=)
7g.151186611A>CCA4573908ASB10c.365T>G (p.Val122Gly)
c.320T>G (p.Val107Gly)
c.500T>G (p.Val167Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.151186611A>GCA370036384ASB10c.365T>C (p.Val122Ala)
c.320T>C (p.Val107Ala)
c.500T>C (p.Val167Ala)
7g.151186611A>TCA370036385ASB10c.365T>A (p.Val122Glu)
c.320T>A (p.Val107Glu)
c.500T>A (p.Val167Glu)
7g.151186612C>ACA370036386ASB10c.364G>T (p.Val122Leu)
c.319G>T (p.Val107Leu)
c.499G>T (p.Val167Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151186612C=CA1752545276ASB10c.364G= (p.Val122=)
c.319G= (p.Val107=)
c.499G= (p.Val167=)
7g.151186612C>GCA370036387ASB10c.364G>C (p.Val122Leu)
c.319G>C (p.Val107Leu)
c.499G>C (p.Val167Leu)
7g.151186612C>TCA370036388ASB10c.364G>A (p.Val122Met)
c.319G>A (p.Val107Met)
c.499G>A (p.Val167Met)
7g.151186613A=CA1752545282ASB10c.363T= (p.His121=)
c.318T= (p.His106=)
c.498T= (p.His166=)
7g.151186613A>CCA370036389ASB10c.363T>G (p.His121Gln)
c.318T>G (p.His106Gln)
c.498T>G (p.His166Gln)
7g.151186613A>GCA458881688ASB10c.363T>C (p.His121=)
c.318T>C (p.His106=)
c.498T>C (p.His166=)
gnomAD v4
7g.151186613A>TCA370036390ASB10c.363T>A (p.His121Gln)
c.318T>A (p.His106Gln)
c.498T>A (p.His166Gln)
dbSNP
7g.151186614T>ACA370036391ASB10c.362A>T (p.His121Leu)
c.317A>T (p.His106Leu)
c.497A>T (p.His166Leu)
7g.151186614T>CCA370036394ASB10c.362A>G (p.His121Arg)
c.317A>G (p.His106Arg)
c.497A>G (p.His166Arg)
gnomAD v4
7g.151186614T>GCA370036392ASB10c.362A>C (p.His121Pro)
c.317A>C (p.His106Pro)
c.497A>C (p.His166Pro)
gnomAD v4
7g.151186615G>ACA370036396ASB10c.361C>T (p.His121Tyr)
c.316C>T (p.His106Tyr)
c.496C>T (p.His166Tyr)
7g.151186615G>CCA370036398ASB10c.361C>G (p.His121Asp)
c.316C>G (p.His106Asp)
c.496C>G (p.His166Asp)
7g.151186615G>TCA370036400ASB10c.361C>A (p.His121Asn)
c.316C>A (p.His106Asn)
c.496C>A (p.His166Asn)
7g.151186616C>ACA458881692ASB10c.360G>T (p.Leu120=)
c.315G>T (p.Leu105=)
c.495G>T (p.Leu165=)
7g.151186616C>GCA458881693ASB10c.360G>C (p.Leu120=)
c.315G>C (p.Leu105=)
c.495G>C (p.Leu165=)
7g.151186616C>TCA458881694ASB10c.360G>A (p.Leu120=)
c.315G>A (p.Leu105=)
c.495G>A (p.Leu165=)
7g.151186617A=CA1752545287ASB10c.359T= (p.Leu120=)
c.314T= (p.Leu105=)
c.494T= (p.Leu165=)
7g.151186617A>CCA370036402ASB10c.359T>G (p.Leu120Arg)
c.314T>G (p.Leu105Arg)
c.494T>G (p.Leu165Arg)
gnomAD v4
7g.151186617A>GCA370036404ASB10c.359T>C (p.Leu120Pro)
c.314T>C (p.Leu105Pro)
c.494T>C (p.Leu165Pro)
dbSNP
7g.151186617A>TCA370036406ASB10c.359T>A (p.Leu120Gln)
c.314T>A (p.Leu105Gln)
c.494T>A (p.Leu165Gln)
gnomAD v4
7g.151186618G>ACA458881695ASB10c.358C>T (p.Leu120=)
c.313C>T (p.Leu105=)
c.493C>T (p.Leu165=)
dbSNP gnomAD v4
7g.151186618G>CCA370036408ASB10c.358C>G (p.Leu120Val)
c.313C>G (p.Leu105Val)
c.493C>G (p.Leu165Val)
7g.151186618G=CA1752545290ASB10c.358C= (p.Leu120=)
c.313C= (p.Leu105=)
c.493C= (p.Leu165=)
7g.151186618G>TCA370036409ASB10c.358C>A (p.Leu120Met)
c.313C>A (p.Leu105Met)
c.493C>A (p.Leu165Met)
7g.151186619T>ACA458881696ASB10c.357A>T (p.Pro119=)
c.312A>T (p.Pro104=)
c.492A>T (p.Pro164=)
7g.151186619T>CCA458881697ASB10c.357A>G (p.Pro119=)
c.312A>G (p.Pro104=)
c.492A>G (p.Pro164=)
7g.151186619T>GCA458881698ASB10c.357A>C (p.Pro119=)
c.312A>C (p.Pro104=)
c.492A>C (p.Pro164=)
7g.151186620G>ACA370036411ASB10c.356C>T (p.Pro119Leu)
c.311C>T (p.Pro104Leu)
c.491C>T (p.Pro164Leu)
7g.151186620G>CCA370036413ASB10c.356C>G (p.Pro119Arg)
c.311C>G (p.Pro104Arg)
c.491C>G (p.Pro164Arg)
7g.151186620G>TCA370036414ASB10c.356C>A (p.Pro119Gln)
c.311C>A (p.Pro104Gln)
c.491C>A (p.Pro164Gln)
7g.151186621G>ACA370036420ASB10c.355C>T (p.Pro119Ser)
c.310C>T (p.Pro104Ser)
c.490C>T (p.Pro164Ser)
7g.151186621G>CCA370036418ASB10c.355C>G (p.Pro119Ala)
c.310C>G (p.Pro104Ala)
c.490C>G (p.Pro164Ala)
7g.151186621G>TCA370036416ASB10c.355C>A (p.Pro119Thr)
c.310C>A (p.Pro104Thr)
c.490C>A (p.Pro164Thr)
gnomAD v4
7g.151186622G>ACA458881702ASB10c.354C>T (p.Thr118=)
c.309C>T (p.Thr103=)
c.489C>T (p.Thr163=)
dbSNP gnomAD v2 gnomAD v4
7g.151186622G>CCA458881703ASB10c.354C>G (p.Thr118=)
c.309C>G (p.Thr103=)
c.489C>G (p.Thr163=)
7g.151186622G=CA1752545292ASB10c.354C= (p.Thr118=)
c.309C= (p.Thr103=)
c.489C= (p.Thr163=)
7g.151186622G>TCA458881704ASB10c.354C>A (p.Thr118=)
c.309C>A (p.Thr103=)
c.489C>A (p.Thr163=)
7g.151186623G>ACA370036421ASB10c.353C>T (p.Thr118Ile)
c.308C>T (p.Thr103Ile)
c.488C>T (p.Thr163Ile)
7g.151186623G>CCA370036425ASB10c.353C>G (p.Thr118Ser)
c.308C>G (p.Thr103Ser)
c.488C>G (p.Thr163Ser)
7g.151186623G>TCA370036423ASB10c.353C>A (p.Thr118Asn)
c.308C>A (p.Thr103Asn)
c.488C>A (p.Thr163Asn)
gnomAD v4
7g.151186624T>ACA370036427ASB10c.352A>T (p.Thr118Ser)
c.307A>T (p.Thr103Ser)
c.487A>T (p.Thr163Ser)
7g.151186624T>CCA370036429ASB10c.352A>G (p.Thr118Ala)
c.307A>G (p.Thr103Ala)
c.487A>G (p.Thr163Ala)
7g.151186624T>GCA370036431ASB10c.352A>C (p.Thr118Pro)
c.307A>C (p.Thr103Pro)
c.487A>C (p.Thr163Pro)
dbSNP
7g.151186624T=CA1752545294ASB10c.352A= (p.Thr118=)
c.307A= (p.Thr103=)
c.487A= (p.Thr163=)
7g.151186625G>ACA458881706ASB10c.351C>T (p.Thr117=)
c.306C>T (p.Thr102=)
c.486C>T (p.Thr162=)
gnomAD v4
7g.151186625G>CCA458881708ASB10c.351C>G (p.Thr117=)
c.306C>G (p.Thr102=)
c.486C>G (p.Thr162=)
7g.151186625G>TCA458881709ASB10c.351C>A (p.Thr117=)
c.306C>A (p.Thr102=)
c.486C>A (p.Thr162=)
gnomAD v3 gnomAD v4
7g.151186626G>ACA370036432ASB10c.350C>T (p.Thr117Ile)
c.305C>T (p.Thr102Ile)
c.485C>T (p.Thr162Ile)
7g.151186626G>CCA370036433ASB10c.350C>G (p.Thr117Ser)
c.305C>G (p.Thr102Ser)
c.485C>G (p.Thr162Ser)
7g.151186626G=CA1752545299ASB10c.350C= (p.Thr117=)
c.305C= (p.Thr102=)
c.485C= (p.Thr162=)
7g.151186626G>TCA169125459ASB10c.350C>A (p.Thr117Asn)
c.305C>A (p.Thr102Asn)
c.485C>A (p.Thr162Asn)
ClinVar dbSNP gnomAD v4
7g.151186627T>ACA370036434ASB10c.349A>T (p.Thr117Ser)
c.304A>T (p.Thr102Ser)
c.484A>T (p.Thr162Ser)
7g.151186627T>CCA370036436ASB10c.349A>G (p.Thr117Ala)
c.304A>G (p.Thr102Ala)
c.484A>G (p.Thr162Ala)
7g.151186627T>GCA370036438ASB10c.349A>C (p.Thr117Pro)
c.304A>C (p.Thr102Pro)
c.484A>C (p.Thr162Pro)
7g.151186628C>ACA458881710ASB10c.348G>T (p.Leu116=)
c.303G>T (p.Leu101=)
c.483G>T (p.Leu161=)
7g.151186628C>GCA458881711ASB10c.348G>C (p.Leu116=)
c.303G>C (p.Leu101=)
c.483G>C (p.Leu161=)
7g.151186628C>TCA458881712ASB10c.348G>A (p.Leu116=)
c.303G>A (p.Leu101=)
c.483G>A (p.Leu161=)
7g.151186629A=CA1752545302ASB10c.347T= (p.Leu116=)
c.302T= (p.Leu101=)
c.482T= (p.Leu161=)
7g.151186629A>CCA370036440ASB10c.347T>G (p.Leu116Arg)
c.302T>G (p.Leu101Arg)
c.482T>G (p.Leu161Arg)
7g.151186629A>GCA370036441ASB10c.347T>C (p.Leu116Pro)
c.302T>C (p.Leu101Pro)
c.482T>C (p.Leu161Pro)
dbSNP COSMIC COSMIC
7g.151186629A>TCA370036443ASB10c.347T>A (p.Leu116Gln)
c.302T>A (p.Leu101Gln)
c.482T>A (p.Leu161Gln)
7g.151186630G>ACA458881714ASB10c.346C>T (p.Leu116=)
c.301C>T (p.Leu101=)
c.481C>T (p.Leu161=)
7g.151186630G>CCA370036445ASB10c.346C>G (p.Leu116Val)
c.301C>G (p.Leu101Val)
c.481C>G (p.Leu161Val)
7g.151186630G>TCA370036446ASB10c.346C>A (p.Leu116Met)
c.301C>A (p.Leu101Met)
c.481C>A (p.Leu161Met)
7g.151186631C>ACA370036448ASB10c.345G>T (p.Glu115Asp)
c.300G>T (p.Glu100Asp)
c.480G>T (p.Glu160Asp)
7g.151186631C>GCA370036450ASB10c.345G>C (p.Glu115Asp)
c.300G>C (p.Glu100Asp)
c.480G>C (p.Glu160Asp)
7g.151186631C>TCA458881715ASB10c.345G>A (p.Glu115=)
c.300G>A (p.Glu100=)
c.480G>A (p.Glu160=)
dbSNP
7g.151186632T>ACA370036452ASB10c.344A>T (p.Glu115Val)
c.299A>T (p.Glu100Val)
c.479A>T (p.Glu160Val)
7g.151186632T>CCA370036453ASB10c.344A>G (p.Glu115Gly)
c.299A>G (p.Glu100Gly)
c.479A>G (p.Glu160Gly)
7g.151186632T>GCA370036455ASB10c.344A>C (p.Glu115Ala)
c.299A>C (p.Glu100Ala)
c.479A>C (p.Glu160Ala)
7g.151186633C>ACA370036458ASB10c.343G>T (p.Glu115Ter)
c.298G>T (p.Glu100Ter)
c.478G>T (p.Glu160Ter)
gnomAD v4
7g.151186633C=CA1752545305ASB10c.343G= (p.Glu115=)
c.298G= (p.Glu100=)
c.478G= (p.Glu160=)
7g.151186633C>GCA370036459ASB10c.343G>C (p.Glu115Gln)
c.298G>C (p.Glu100Gln)
c.478G>C (p.Glu160Gln)
gnomAD v4
7g.151186633C>TCA370036460ASB10c.343G>A (p.Glu115Lys)
c.298G>A (p.Glu100Lys)
c.478G>A (p.Glu160Lys)
dbSNP gnomAD v2
7g.151186634C>ACA370036462ASB10c.342G>T (p.Glu114Asp)
c.297G>T (p.Glu99Asp)
c.477G>T (p.Glu159Asp)
7g.151186634C>GCA370036464ASB10c.342G>C (p.Glu114Asp)
c.297G>C (p.Glu99Asp)
c.477G>C (p.Glu159Asp)
7g.151186634C>TCA458881716ASB10c.342G>A (p.Glu114=)
c.297G>A (p.Glu99=)
c.477G>A (p.Glu159=)
dbSNP
7g.151186635T>ACA370036466ASB10c.341A>T (p.Glu114Val)
c.296A>T (p.Glu99Val)
c.476A>T (p.Glu159Val)
7g.151186635T>CCA370036467ASB10c.341A>G (p.Glu114Gly)
c.296A>G (p.Glu99Gly)
c.476A>G (p.Glu159Gly)
7g.151186635T>GCA370036468ASB10c.341A>C (p.Glu114Ala)
c.296A>C (p.Glu99Ala)
c.476A>C (p.Glu159Ala)
7g.151186636C>ACA370036470ASB10c.340G>T (p.Glu114Ter)
c.295G>T (p.Glu99Ter)
c.475G>T (p.Glu159Ter)
7g.151186636C>GCA370036474ASB10c.340G>C (p.Glu114Gln)
c.295G>C (p.Glu99Gln)
c.475G>C (p.Glu159Gln)
7g.151186636C>TCA370036472ASB10c.340G>A (p.Glu114Lys)
c.295G>A (p.Glu99Lys)
c.475G>A (p.Glu159Lys)
7g.151186637T>ACA370036476ASB10c.339A>T (p.Glu113Asp)
c.294A>T (p.Glu98Asp)
c.474A>T (p.Glu158Asp)
7g.151186637T>CCA458881720ASB10c.339A>G (p.Glu113=)
c.294A>G (p.Glu98=)
c.474A>G (p.Glu158=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151186637T>GCA370036478ASB10c.339A>C (p.Glu113Asp)
c.294A>C (p.Glu98Asp)
c.474A>C (p.Glu158Asp)
7g.151186637T=CA1752545308ASB10c.339A= (p.Glu113=)
c.294A= (p.Glu98=)
c.474A= (p.Glu158=)
7g.151186638T>ACA370036480ASB10c.338A>T (p.Glu113Val)
c.293A>T (p.Glu98Val)
c.473A>T (p.Glu158Val)
7g.151186638T>CCA370036482ASB10c.338A>G (p.Glu113Gly)
c.293A>G (p.Glu98Gly)
c.473A>G (p.Glu158Gly)
7g.151186638T>GCA370036488ASB10c.338A>C (p.Glu113Ala)
c.293A>C (p.Glu98Ala)
c.473A>C (p.Glu158Ala)
7g.151186639C>ACA370036494ASB10c.337G>T (p.Glu113Ter)
c.292G>T (p.Glu98Ter)
c.472G>T (p.Glu158Ter)
gnomAD v4 COSMIC COSMIC COSMIC COSMIC
7g.151186639C=CA1752545312ASB10c.337G= (p.Glu113=)
c.292G= (p.Glu98=)
c.472G= (p.Glu158=)
7g.151186639C>GCA370036490ASB10c.337G>C (p.Glu113Gln)
c.292G>C (p.Glu98Gln)
c.472G>C (p.Glu158Gln)
7g.151186639C>TCA4573909ASB10c.337G>A (p.Glu113Lys)
c.292G>A (p.Glu98Lys)
c.472G>A (p.Glu158Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
7g.151186640G>ACA4573910ASB10c.336C>T (p.Tyr112=)
c.291C>T (p.Tyr97=)
c.471C>T (p.Tyr157=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186640G>CCA370036499ASB10c.336C>G (p.Tyr112Ter)
c.291C>G (p.Tyr97Ter)
c.471C>G (p.Tyr157Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151186640G=CA1752545316ASB10c.336C= (p.Tyr112=)
c.291C= (p.Tyr97=)
c.471C= (p.Tyr157=)
7g.151186640G>TCA370036501ASB10c.336C>A (p.Tyr112Ter)
c.291C>A (p.Tyr97Ter)
c.471C>A (p.Tyr157Ter)
dbSNP gnomAD v4
7g.151186641T>ACA370036503ASB10c.335A>T (p.Tyr112Phe)
c.290A>T (p.Tyr97Phe)
c.470A>T (p.Tyr157Phe)
7g.151186641T>CCA370036504ASB10c.335A>G (p.Tyr112Cys)
c.290A>G (p.Tyr97Cys)
c.470A>G (p.Tyr157Cys)
7g.151186641T>GCA370036506ASB10c.335A>C (p.Tyr112Ser)
c.290A>C (p.Tyr97Ser)
c.470A>C (p.Tyr157Ser)
7g.151186642A>CCA370036509ASB10c.334T>G (p.Tyr112Asp)
c.289T>G (p.Tyr97Asp)
c.469T>G (p.Tyr157Asp)
7g.151186642A>GCA370036515ASB10c.334T>C (p.Tyr112His)
c.289T>C (p.Tyr97His)
c.469T>C (p.Tyr157His)
7g.151186642A>TCA370036510ASB10c.334T>A (p.Tyr112Asn)
c.289T>A (p.Tyr97Asn)
c.469T>A (p.Tyr157Asn)
7g.151186643T>ACA458881723ASB10c.333A>T (p.Thr111=)
c.288A>T (p.Thr96=)
c.468A>T (p.Thr156=)
7g.151186643T>CCA458881725ASB10c.333A>G (p.Thr111=)
c.288A>G (p.Thr96=)
c.468A>G (p.Thr156=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151186643T>GCA458881724ASB10c.333A>C (p.Thr111=)
c.288A>C (p.Thr96=)
c.468A>C (p.Thr156=)
dbSNP gnomAD v4
7g.151186643T=CA1752545319ASB10c.333A= (p.Thr111=)
c.288A= (p.Thr96=)
c.468A= (p.Thr156=)
7g.151186644G>ACA370036518ASB10c.332C>T (p.Thr111Ile)
c.287C>T (p.Thr96Ile)
c.467C>T (p.Thr156Ile)
dbSNP gnomAD v2 gnomAD v4
7g.151186644G>CCA370036519ASB10c.332C>G (p.Thr111Arg)
c.287C>G (p.Thr96Arg)
c.467C>G (p.Thr156Arg)
7g.151186644G=CA1752545322ASB10c.332C= (p.Thr111=)
c.287C= (p.Thr96=)
c.467C= (p.Thr156=)
7g.151186644G>TCA370036522ASB10c.332C>A (p.Thr111Lys)
c.287C>A (p.Thr96Lys)
c.467C>A (p.Thr156Lys)
7g.151186645T>ACA370036525ASB10c.331A>T (p.Thr111Ser)
c.286A>T (p.Thr96Ser)
c.*375A>T (n.*375A>T)
c.466A>T (p.Thr156Ser)
7g.151186645T>CCA370036526ASB10c.331A>G (p.Thr111Ala)
c.286A>G (p.Thr96Ala)
c.*375A>G (n.*375A>G)
c.466A>G (p.Thr156Ala)
gnomAD v4
7g.151186645T>GCA370036529ASB10c.331A>C (p.Thr111Pro)
c.286A>C (p.Thr96Pro)
c.*375A>C (n.*375A>C)
c.466A>C (p.Thr156Pro)
7g.151186646C>ACA458881726ASB10c.330G>T (p.Leu110=)
c.285G>T (p.Leu95=)
c.*374G>T (n.*374G>T)
c.465G>T (p.Leu155=)
dbSNP gnomAD v4
7g.151186646C=CA1752545326ASB10c.330G= (p.Leu110=)
c.285G= (p.Leu95=)
c.*374G= (n.*374G=)
c.465G= (p.Leu155=)
7g.151186646C>GCA458881727ASB10c.330G>C (p.Leu110=)
c.285G>C (p.Leu95=)
c.*374G>C (n.*374G>C)
c.465G>C (p.Leu155=)
7g.151186646C>TCA458881728ASB10c.330G>A (p.Leu110=)
c.285G>A (p.Leu95=)
c.*374G>A (n.*374G>A)
c.465G>A (p.Leu155=)
7g.151186647A=CA1752545329ASB10c.329T= (p.Leu110=)
c.284T= (p.Leu95=)
c.*373T= (n.*373T=)
c.464T= (p.Leu155=)
7g.151186647A>CCA370036531ASB10c.329T>G (p.Leu110Arg)
c.284T>G (p.Leu95Arg)
c.*373T>G (n.*373T>G)
c.464T>G (p.Leu155Arg)
7g.151186647A>GCA370036533ASB10c.329T>C (p.Leu110Pro)
c.284T>C (p.Leu95Pro)
c.*373T>C (n.*373T>C)
c.464T>C (p.Leu155Pro)
dbSNP gnomAD v2 gnomAD v4
7g.151186647A>TCA370036534ASB10c.329T>A (p.Leu110Gln)
c.284T>A (p.Leu95Gln)
c.*373T>A (n.*373T>A)
c.464T>A (p.Leu155Gln)
7g.151186648G>ACA458881729ASB10c.328C>T (p.Leu110=)
c.283C>T (p.Leu95=)
c.*372C>T (n.*372C>T)
c.463C>T (p.Leu155=)
7g.151186648G>CCA370036537ASB10c.328C>G (p.Leu110Val)
c.283C>G (p.Leu95Val)
c.*372C>G (n.*372C>G)
c.463C>G (p.Leu155Val)
7g.151186648G>TCA370036539ASB10c.328C>A (p.Leu110Met)
c.283C>A (p.Leu95Met)
c.*372C>A (n.*372C>A)
c.463C>A (p.Leu155Met)
7g.151186649A>CCA458881730ASB10c.327T>G (p.Ser109=)
c.282T>G (p.Ser94=)
c.*371T>G (n.*371T>G)
c.462T>G (p.Ser154=)
7g.151186649A>GCA458881731ASB10c.327T>C (p.Ser109=)
c.282T>C (p.Ser94=)
c.*371T>C (n.*371T>C)
c.462T>C (p.Ser154=)
ClinVar dbSNP gnomAD v4
7g.151186649A>TCA458881732ASB10c.327T>A (p.Ser109=)
c.282T>A (p.Ser94=)
c.*371T>A (n.*371T>A)
c.462T>A (p.Ser154=)
7g.151186650G>ACA370036545ASB10c.326C>T (p.Ser109Phe)
c.281C>T (p.Ser94Phe)
c.*370C>T (n.*370C>T)
c.461C>T (p.Ser154Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151186650G>CCA370036548ASB10c.326C>G (p.Ser109Cys)
c.281C>G (p.Ser94Cys)
c.*370C>G (n.*370C>G)
c.461C>G (p.Ser154Cys)
7g.151186650G=CA1752545334ASB10c.326C= (p.Ser109=)
c.281C= (p.Ser94=)
c.*370C= (n.*370C=)
c.461C= (p.Ser154=)
7g.151186650G>TCA370036543ASB10c.326C>A (p.Ser109Tyr)
c.281C>A (p.Ser94Tyr)
c.*370C>A (n.*370C>A)
c.461C>A (p.Ser154Tyr)
7g.151186651A>CCA370036551ASB10c.325T>G (p.Ser109Ala)
c.280T>G (p.Ser94Ala)
c.*369T>G (n.*369T>G)
c.460T>G (p.Ser154Ala)
7g.151186651A>GCA370036555ASB10c.325T>C (p.Ser109Pro)
c.280T>C (p.Ser94Pro)
c.*369T>C (n.*369T>C)
c.460T>C (p.Ser154Pro)
7g.151186651A>TCA370036553ASB10c.325T>A (p.Ser109Thr)
c.280T>A (p.Ser94Thr)
c.*369T>A (n.*369T>A)
c.460T>A (p.Ser154Thr)
7g.151186652C>ACA370036558ASB10c.324G>T (p.Trp108Cys)
c.279G>T (p.Trp93Cys)
c.*368G>T (n.*368G>T)
c.459G>T (p.Trp153Cys)
7g.151186652C=CA1752545335ASB10c.324G= (p.Trp108=)
c.279G= (p.Trp93=)
c.*368G= (n.*368G=)
c.459G= (p.Trp153=)
7g.151186652C>GCA370036564ASB10c.324G>C (p.Trp108Cys)
c.279G>C (p.Trp93Cys)
c.*368G>C (n.*368G>C)
c.459G>C (p.Trp153Cys)
7g.151186652C>TCA370036561ASB10c.324G>A (p.Trp108Ter)
c.279G>A (p.Trp93Ter)
c.*368G>A (n.*368G>A)
c.459G>A (p.Trp153Ter)
dbSNP gnomAD v3 gnomAD v4
7g.151186653C>ACA4573911ASB10c.323G>T (p.Trp108Leu)
c.278G>T (p.Trp93Leu)
c.*367G>T (n.*367G>T)
c.458G>T (p.Trp153Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.151186653C=CA1752545336ASB10c.323G= (p.Trp108=)
c.278G= (p.Trp93=)
c.*367G= (n.*367G=)
c.458G= (p.Trp153=)
7g.151186653C>GCA370036568ASB10c.323G>C (p.Trp108Ser)
c.278G>C (p.Trp93Ser)
c.*367G>C (n.*367G>C)
c.458G>C (p.Trp153Ser)
7g.151186653C>TCA370036570ASB10c.323G>A (p.Trp108Ter)
c.278G>A (p.Trp93Ter)
c.*367G>A (n.*367G>A)
c.458G>A (p.Trp153Ter)
dbSNP gnomAD v2 gnomAD v4
7g.151186654A>CCA370036577ASB10c.322T>G (p.Trp108Gly)
c.277T>G (p.Trp93Gly)
c.*366T>G (n.*366T>G)
c.457T>G (p.Trp153Gly)
7g.151186654A>GCA370036578ASB10c.322T>C (p.Trp108Arg)
c.277T>C (p.Trp93Arg)
c.*366T>C (n.*366T>C)
c.457T>C (p.Trp153Arg)
7g.151186654A>TCA370036580ASB10c.322T>A (p.Trp108Arg)
c.277T>A (p.Trp93Arg)
c.*366T>A (n.*366T>A)
c.457T>A (p.Trp153Arg)
7g.151186655G>ACA458881736ASB10c.321C>T (p.Leu107=)
c.276C>T (p.Leu92=)
c.*365C>T (n.*365C>T)
c.456C>T (p.Leu152=)
7g.151186655G>CCA4573912ASB10c.321C>G (p.Leu107=)
c.276C>G (p.Leu92=)
c.*365C>G (n.*365C>G)
c.456C>G (p.Leu152=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186655G=CA1752545338ASB10c.321C= (p.Leu107=)
c.276C= (p.Leu92=)
c.*365C= (n.*365C=)
c.456C= (p.Leu152=)
7g.151186655G>TCA458881739ASB10c.321C>A (p.Leu107=)
c.276C>A (p.Leu92=)
c.*365C>A (n.*365C>A)
c.456C>A (p.Leu152=)
7g.151186656A>CCA370036585ASB10c.320T>G (p.Leu107Arg)
c.275T>G (p.Leu92Arg)
c.*364T>G (n.*364T>G)
c.455T>G (p.Leu152Arg)
7g.151186656A>GCA370036588ASB10c.320T>C (p.Leu107Pro)
c.275T>C (p.Leu92Pro)
c.*364T>C (n.*364T>C)
c.455T>C (p.Leu152Pro)
7g.151186656A>TCA370036591ASB10c.320T>A (p.Leu107His)
c.275T>A (p.Leu92His)
c.*364T>A (n.*364T>A)
c.455T>A (p.Leu152His)
7g.151186657G>ACA370036594ASB10c.319C>T (p.Leu107Phe)
c.274C>T (p.Leu92Phe)
c.*363C>T (n.*363C>T)
c.454C>T (p.Leu152Phe)
7g.151186657G>CCA370036596ASB10c.319C>G (p.Leu107Val)
c.274C>G (p.Leu92Val)
c.*363C>G (n.*363C>G)
c.454C>G (p.Leu152Val)
dbSNP gnomAD v3 gnomAD v4
7g.151186657G=CA1752545341ASB10c.319C= (p.Leu107=)
c.274C= (p.Leu92=)
c.*363C= (n.*363C=)
c.454C= (p.Leu152=)
7g.151186657G>TCA370036598ASB10c.319C>A (p.Leu107Ile)
c.274C>A (p.Leu92Ile)
c.*363C>A (n.*363C>A)
c.454C>A (p.Leu152Ile)
gnomAD v4
7g.151186658T>ACA370036605ASB10c.318A>T (p.Arg106Ser)
c.273A>T (p.Gly91=)
c.*362A>T (n.*362A>T)
c.453A>T (p.Arg151Ser)
7g.151186658T>CCA458881741ASB10c.318A>G (p.Arg106=)
c.273A>G (p.Gly91=)
c.*362A>G (n.*362A>G)
c.453A>G (p.Arg151=)
7g.151186658T>GCA370036602ASB10c.318A>C (p.Arg106Ser)
c.273A>C (p.Gly91=)
c.*362A>C (n.*362A>C)
c.453A>C (p.Arg151Ser)
7g.151186659C>ACA370036608ASB10c.317G>T (p.Arg106Ile)
c.272G>T (p.Gly91Val)
c.*361G>T (n.*361G>T)
c.452G>T (p.Arg151Ile)
7g.151186659C>GCA370036612ASB10c.317G>C (p.Arg106Thr)
c.272G>C (p.Gly91Ala)
c.*361G>C (n.*361G>C)
c.452G>C (p.Arg151Thr)
7g.151186659C>TCA370036615ASB10c.317G>A (p.Arg106Lys)
c.272G>A (p.Gly91Glu)
c.*361G>A (n.*361G>A)
c.452G>A (p.Arg151Lys)
7g.151186660C>ACA370036617ASB10c.317-1G>T (n.317-1G>T)
c.272-1G>T (n.272-1G>T)
c.*361-1G>T (n.*361-1G>T)
c.452-1G>T (n.452-1G>T)
7g.151186660C=CA1752545344ASB10c.317-1G= (n.317-1G=)
c.272-1G= (n.272-1G=)
c.*361-1G= (n.*361-1G=)
c.452-1G= (n.452-1G=)
7g.151186660C>GCA370036620ASB10c.317-1G>C (n.317-1G>C)
c.272-1G>C (n.272-1G>C)
c.*361-1G>C (n.*361-1G>C)
c.452-1G>C (n.452-1G>C)
dbSNP gnomAD v2 gnomAD v4
7g.151186660C>TCA370036623ASB10c.317-1G>A (n.317-1G>A)
c.272-1G>A (n.272-1G>A)
c.*361-1G>A (n.*361-1G>A)
c.452-1G>A (n.452-1G>A)
7g.151186661T>ACA370036624ASB10c.317-2A>T (n.317-2A>T)
c.272-2A>T (n.272-2A>T)
c.*361-2A>T (n.*361-2A>T)
c.452-2A>T (n.452-2A>T)
7g.151186661T>CCA370036625ASB10c.317-2A>G (n.317-2A>G)
c.272-2A>G (n.272-2A>G)
c.*361-2A>G (n.*361-2A>G)
c.452-2A>G (n.452-2A>G)
dbSNP
7g.151186661T>GCA4573913ASB10c.317-2A>C (n.317-2A>C)
c.272-2A>C (n.272-2A>C)
c.*361-2A>C (n.*361-2A>C)
c.452-2A>C (n.452-2A>C)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
7g.151186661T=CA1752545347ASB10c.317-2A= (n.317-2A=)
c.272-2A= (n.272-2A=)
c.*361-2A= (n.*361-2A=)
c.452-2A= (n.452-2A=)
7g.151186662A=CA1752545350ASB10c.317-3T= (n.317-3T=)
c.272-3T= (n.272-3T=)
c.*361-3T= (n.*361-3T=)
c.452-3T= (n.452-3T=)
7g.151186662A>GCA1752545351ASB10c.317-3T>C (n.317-3T>C)
c.272-3T>C (n.272-3T>C)
c.*361-3T>C (n.*361-3T>C)
c.452-3T>C (n.452-3T>C)
dbSNP gnomAD v4
7g.151186663G>TCA2685657522ASB10c.317-4C>A (n.317-4C>A)
c.272-4C>A (n.272-4C>A)
c.*361-4C>A (n.*361-4C>A)
c.452-4C>A (n.452-4C>A)
gnomAD v4
7g.151186664G>ACA4573914ASB10c.317-5C>T (n.317-5C>T)
c.272-5C>T (n.272-5C>T)
c.*361-5C>T (n.*361-5C>T)
c.452-5C>T (n.452-5C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.151186664G=CA1752545354ASB10c.317-5C= (n.317-5C=)
c.272-5C= (n.272-5C=)
c.*361-5C= (n.*361-5C=)
c.452-5C= (n.452-5C=)
7g.151186665G>ACA1752545361ASB10c.317-6C>T (n.317-6C>T)
c.272-6C>T (n.272-6C>T)
c.*361-6C>T (n.*361-6C>T)
c.452-6C>T (n.452-6C>T)
dbSNP
7g.151186665G=CA1752545360ASB10c.317-6C= (n.317-6C=)
c.272-6C= (n.272-6C=)
c.*361-6C= (n.*361-6C=)
c.452-6C= (n.452-6C=)
7g.151186665G>TCA2499380420ASB10c.317-6C>A (n.317-6C>A)
c.272-6C>A (n.272-6C>A)
c.*361-6C>A (n.*361-6C>A)
c.452-6C>A (n.452-6C>A)
gnomAD v4
7g.151186667G>ACA579077218ASB10c.317-8C>T (n.317-8C>T)
c.272-8C>T (n.272-8C>T)
c.*361-8C>T (n.*361-8C>T)
c.452-8C>T (n.452-8C>T)
dbSNP gnomAD v2 gnomAD v4
7g.151186667G=CA1752545363ASB10c.317-8C= (n.317-8C=)
c.272-8C= (n.272-8C=)
c.*361-8C= (n.*361-8C=)
c.452-8C= (n.452-8C=)

Number of alleles fetched