Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.48756287T>ACA490311302CEP152c.2961A>T (p.Arg987=)
c.2682A>T (p.Arg894=)
c.1002A>T (p.Arg334=)
c.996A>T (p.Arg332=)
n.3926A>T
n.3912A>T
15g.48756287T>CCA490311303CEP152c.2961A>G (p.Arg987=)
c.2682A>G (p.Arg894=)
c.1002A>G (p.Arg334=)
c.996A>G (p.Arg332=)
n.3926A>G
n.3912A>G
15g.48756287T>GCA490311304CEP152c.2961A>C (p.Arg987=)
c.2682A>C (p.Arg894=)
c.1002A>C (p.Arg334=)
c.996A>C (p.Arg332=)
n.3926A>C
n.3912A>C
15g.48756288C>ACA392343039CEP152c.2960G>T (p.Arg987Leu)
c.2681G>T (p.Arg894Leu)
c.1001G>T (p.Arg334Leu)
c.995G>T (p.Arg332Leu)
n.3925G>T
n.3911G>T
15g.48756288C=CA2175628995CEP152c.2960G= (p.Arg987=)
c.2681G= (p.Arg894=)
c.1001G= (p.Arg334=)
c.995G= (p.Arg332=)
n.3925G=
n.3911G=
15g.48756288C>GCA392343040CEP152c.2960G>C (p.Arg987Pro)
c.2681G>C (p.Arg894Pro)
c.1001G>C (p.Arg334Pro)
c.995G>C (p.Arg332Pro)
n.3925G>C
n.3911G>C
15g.48756288C>TCA7548438CEP152c.2960G>A (p.Arg987Gln)
c.2681G>A (p.Arg894Gln)
c.1001G>A (p.Arg334Gln)
c.995G>A (p.Arg332Gln)
n.3925G>A
n.3911G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
15g.48756289G>ACA210938CEP152c.2959C>T (p.Arg987Ter)
c.2680C>T (p.Arg894Ter)
c.1000C>T (p.Arg334Ter)
c.994C>T (p.Arg332Ter)
n.3924C>T
n.3910C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756289G>CCA7548439CEP152c.2959C>G (p.Arg987Gly)
c.2680C>G (p.Arg894Gly)
c.1000C>G (p.Arg334Gly)
c.994C>G (p.Arg332Gly)
n.3924C>G
n.3910C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756289G=CA2175628998CEP152c.2959C= (p.Arg987=)
c.2680C= (p.Arg894=)
c.1000C= (p.Arg334=)
c.994C= (p.Arg332=)
n.3924C=
n.3910C=
15g.48756289G>TCA490311305CEP152c.2959C>A (p.Arg987=)
c.2680C>A (p.Arg894=)
c.1000C>A (p.Arg334=)
c.994C>A (p.Arg332=)
n.3924C>A
n.3910C>A
 ClinVar gnomAD v4
15g.48756290G>ACA490311306CEP152c.2958C>T (p.His986=)
c.2679C>T (p.His893=)
c.999C>T (p.His333=)
c.993C>T (p.His331=)
n.3923C>T
n.3909C>T
 gnomAD v4
15g.48756290G>CCA392343041CEP152c.2958C>G (p.His986Gln)
c.2679C>G (p.His893Gln)
c.999C>G (p.His333Gln)
c.993C>G (p.His331Gln)
n.3923C>G
n.3909C>G
15g.48756290G=CA2175629004CEP152c.2958C= (p.His986=)
c.2679C= (p.His893=)
c.999C= (p.His333=)
c.993C= (p.His331=)
n.3923C=
n.3909C=
15g.48756290G>TCA7548440CEP152c.2958C>A (p.His986Gln)
c.2679C>A (p.His893Gln)
c.999C>A (p.His333Gln)
c.993C>A (p.His331Gln)
n.3923C>A
n.3909C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756291T>ACA392343043CEP152c.2957A>T (p.His986Leu)
c.2678A>T (p.His893Leu)
c.998A>T (p.His333Leu)
c.992A>T (p.His331Leu)
n.3922A>T
n.3908A>T
 gnomAD v4
15g.48756291T>CCA392343044CEP152c.2957A>G (p.His986Arg)
c.2678A>G (p.His893Arg)
c.998A>G (p.His333Arg)
c.992A>G (p.His331Arg)
n.3922A>G
n.3908A>G
 dbSNP
15g.48756291T>GCA392343042CEP152c.2957A>C (p.His986Pro)
c.2678A>C (p.His893Pro)
c.998A>C (p.His333Pro)
c.992A>C (p.His331Pro)
n.3922A>C
n.3908A>C
 ClinVar gnomAD v4
15g.48756292G>ACA392343045CEP152c.2956C>T (p.His986Tyr)
c.2677C>T (p.His893Tyr)
c.997C>T (p.His333Tyr)
c.991C>T (p.His331Tyr)
n.3921C>T
n.3907C>T
15g.48756292G>CCA392343047CEP152c.2956C>G (p.His986Asp)
c.2677C>G (p.His893Asp)
c.997C>G (p.His333Asp)
c.991C>G (p.His331Asp)
n.3921C>G
n.3907C>G
15g.48756292G>TCA392343046CEP152c.2956C>A (p.His986Asn)
c.2677C>A (p.His893Asn)
c.997C>A (p.His333Asn)
c.991C>A (p.His331Asn)
n.3921C>A
n.3907C>A
15g.48756293A>CCA392343048CEP152c.2955T>G (p.Asp985Glu)
c.2676T>G (p.Asp892Glu)
c.996T>G (p.Asp332Glu)
c.990T>G (p.Asp330Glu)
n.3920T>G
n.3906T>G
15g.48756293A>GCA490311307CEP152c.2955T>C (p.Asp985=)
c.2676T>C (p.Asp892=)
c.996T>C (p.Asp332=)
c.990T>C (p.Asp330=)
n.3920T>C
n.3906T>C
15g.48756293A>TCA392343049CEP152c.2955T>A (p.Asp985Glu)
c.2676T>A (p.Asp892Glu)
c.996T>A (p.Asp332Glu)
c.990T>A (p.Asp330Glu)
n.3920T>A
n.3906T>A
15g.48756294T>ACA392343050CEP152c.2954A>T (p.Asp985Val)
c.2675A>T (p.Asp892Val)
c.995A>T (p.Asp332Val)
c.989A>T (p.Asp330Val)
n.3919A>T
n.3905A>T
15g.48756294T>CCA392343051CEP152c.2954A>G (p.Asp985Gly)
c.2675A>G (p.Asp892Gly)
c.995A>G (p.Asp332Gly)
c.989A>G (p.Asp330Gly)
n.3919A>G
n.3905A>G
 dbSNP
15g.48756294T>GCA392343052CEP152c.2954A>C (p.Asp985Ala)
c.2675A>C (p.Asp892Ala)
c.995A>C (p.Asp332Ala)
c.989A>C (p.Asp330Ala)
n.3919A>C
n.3905A>C
15g.48756294T=CA2175629007CEP152c.2954A= (p.Asp985=)
c.2675A= (p.Asp892=)
c.995A= (p.Asp332=)
c.989A= (p.Asp330=)
n.3919A=
n.3905A=
15g.48756295C>ACA392343053CEP152c.2953G>T (p.Asp985Tyr)
c.2674G>T (p.Asp892Tyr)
c.994G>T (p.Asp332Tyr)
c.988G>T (p.Asp330Tyr)
n.3918G>T
n.3904G>T
 dbSNP gnomAD v3 gnomAD v4
15g.48756295C=CA2175629014CEP152c.2953G= (p.Asp985=)
c.2674G= (p.Asp892=)
c.994G= (p.Asp332=)
c.988G= (p.Asp330=)
n.3918G=
n.3904G=
15g.48756295C>GCA392343054CEP152c.2953G>C (p.Asp985His)
c.2674G>C (p.Asp892His)
c.994G>C (p.Asp332His)
c.988G>C (p.Asp330His)
n.3918G>C
n.3904G>C
15g.48756295C>TCA392343055CEP152c.2953G>A (p.Asp985Asn)
c.2674G>A (p.Asp892Asn)
c.994G>A (p.Asp332Asn)
c.988G>A (p.Asp330Asn)
n.3918G>A
n.3904G>A
15g.48756295_48756296delinsCACA2175629012CEP152c.2952_2953delinsTG (p.Asp984=)
c.2673_2674delinsTG (p.Asp891=)
c.993_994delinsTG (p.Asp331=)
c.987_988delinsTG (p.Asp329=)
n.3917_3918delinsTG
n.3903_3904delinsTG
15g.48756296delCA490311309CEP152c.2952del (p.Asp984GlufsTer19)
c.2673del (p.Asp891GlufsTer19)
c.993del (p.Asp331GlufsTer19)
c.987del (p.Asp329GlufsTer19)
n.3917del
n.3903del
 dbSNP
15g.48756296A=CA2175629017CEP152c.2952T= (p.Asp984=)
c.2673T= (p.Asp891=)
c.993T= (p.Asp331=)
c.987T= (p.Asp329=)
n.3917T=
n.3903T=
15g.48756296A>CCA392343056CEP152c.2952T>G (p.Asp984Glu)
c.2673T>G (p.Asp891Glu)
c.993T>G (p.Asp331Glu)
c.987T>G (p.Asp329Glu)
n.3917T>G
n.3903T>G
15g.48756296A>GCA490311308CEP152c.2952T>C (p.Asp984=)
c.2673T>C (p.Asp891=)
c.993T>C (p.Asp331=)
c.987T>C (p.Asp329=)
n.3917T>C
n.3903T>C
 gnomAD v4
15g.48756296A>TCA392343057CEP152c.2952T>A (p.Asp984Glu)
c.2673T>A (p.Asp891Glu)
c.993T>A (p.Asp331Glu)
c.987T>A (p.Asp329Glu)
n.3917T>A
n.3903T>A
 dbSNP gnomAD v3 gnomAD v4
15g.48756297delCA392343058CEP152c.2951del (p.Asp984ValfsTer19)
c.2672del (p.Asp891ValfsTer19)
c.992del (p.Asp331ValfsTer19)
c.986del (p.Asp329ValfsTer19)
n.3916del
n.3902del
15g.48756297T>ACA392343061CEP152c.2951A>T (p.Asp984Val)
c.2672A>T (p.Asp891Val)
c.992A>T (p.Asp331Val)
c.986A>T (p.Asp329Val)
n.3916A>T
n.3902A>T
15g.48756297T>CCA392343060CEP152c.2951A>G (p.Asp984Gly)
c.2672A>G (p.Asp891Gly)
c.992A>G (p.Asp331Gly)
c.986A>G (p.Asp329Gly)
n.3916A>G
n.3902A>G
 dbSNP gnomAD v4
15g.48756297T>GCA392343059CEP152c.2951A>C (p.Asp984Ala)
c.2672A>C (p.Asp891Ala)
c.992A>C (p.Asp331Ala)
c.986A>C (p.Asp329Ala)
n.3916A>C
n.3902A>C
15g.48756297T=CA2175629022CEP152c.2951A= (p.Asp984=)
c.2672A= (p.Asp891=)
c.992A= (p.Asp331=)
c.986A= (p.Asp329=)
n.3916A=
n.3902A=
15g.48756298C>ACA392343062CEP152c.2950G>T (p.Asp984Tyr)
c.2671G>T (p.Asp891Tyr)
c.991G>T (p.Asp331Tyr)
c.985G>T (p.Asp329Tyr)
n.3915G>T
n.3901G>T
15g.48756298C>GCA392343063CEP152c.2950G>C (p.Asp984His)
c.2671G>C (p.Asp891His)
c.991G>C (p.Asp331His)
c.985G>C (p.Asp329His)
n.3915G>C
n.3901G>C
 ClinVar
15g.48756298C>TCA392343064CEP152c.2950G>A (p.Asp984Asn)
c.2671G>A (p.Asp891Asn)
c.991G>A (p.Asp331Asn)
c.985G>A (p.Asp329Asn)
n.3915G>A
n.3901G>A
15g.48756299T>ACA392343065CEP152c.2949A>T (p.Leu983Phe)
c.2670A>T (p.Leu890Phe)
c.990A>T (p.Leu330Phe)
c.984A>T (p.Leu328Phe)
n.3914A>T
n.3900A>T
15g.48756299T>CCA490311310CEP152c.2949A>G (p.Leu983=)
c.2670A>G (p.Leu890=)
c.990A>G (p.Leu330=)
c.984A>G (p.Leu328=)
n.3914A>G
n.3900A>G
15g.48756299T>GCA392343066CEP152c.2949A>C (p.Leu983Phe)
c.2670A>C (p.Leu890Phe)
c.990A>C (p.Leu330Phe)
c.984A>C (p.Leu328Phe)
n.3914A>C
n.3900A>C
15g.48756300A=CA2175629028CEP152c.2948T= (p.Leu983=)
c.2669T= (p.Leu890=)
c.989T= (p.Leu330=)
c.983T= (p.Leu328=)
n.3913T=
n.3899T=
15g.48756300A>CCA392343067CEP152c.2948T>G (p.Leu983Ter)
c.2669T>G (p.Leu890Ter)
c.989T>G (p.Leu330Ter)
c.983T>G (p.Leu328Ter)
n.3913T>G
n.3899T>G
15g.48756300A>GCA392343068CEP152c.2948T>C (p.Leu983Ser)
c.2669T>C (p.Leu890Ser)
c.989T>C (p.Leu330Ser)
c.983T>C (p.Leu328Ser)
n.3913T>C
n.3899T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48756300A>TCA392343069CEP152c.2948T>A (p.Leu983Ter)
c.2669T>A (p.Leu890Ter)
c.989T>A (p.Leu330Ter)
c.983T>A (p.Leu328Ter)
n.3913T>A
n.3899T>A
15g.48756301A>CCA392343070CEP152c.2947T>G (p.Leu983Val)
c.2668T>G (p.Leu890Val)
c.988T>G (p.Leu330Val)
c.982T>G (p.Leu328Val)
n.3912T>G
n.3898T>G
15g.48756301A>GCA490311311CEP152c.2947T>C (p.Leu983=)
c.2668T>C (p.Leu890=)
c.988T>C (p.Leu330=)
c.982T>C (p.Leu328=)
n.3912T>C
n.3898T>C
15g.48756301A>TCA392343071CEP152c.2947T>A (p.Leu983Ile)
c.2668T>A (p.Leu890Ile)
c.988T>A (p.Leu330Ile)
c.982T>A (p.Leu328Ile)
n.3912T>A
n.3898T>A
15g.48756302A>CCA392343072CEP152c.2946T>G (p.Phe982Leu)
c.2667T>G (p.Phe889Leu)
c.987T>G (p.Phe329Leu)
c.981T>G (p.Phe327Leu)
n.3911T>G
n.3897T>G
15g.48756302A>GCA490311312CEP152c.2946T>C (p.Phe982=)
c.2667T>C (p.Phe889=)
c.987T>C (p.Phe329=)
c.981T>C (p.Phe327=)
n.3911T>C
n.3897T>C
15g.48756302A>TCA392343073CEP152c.2946T>A (p.Phe982Leu)
c.2667T>A (p.Phe889Leu)
c.987T>A (p.Phe329Leu)
c.981T>A (p.Phe327Leu)
n.3911T>A
n.3897T>A
15g.48756303A=CA2175629031CEP152c.2945T= (p.Phe982=)
c.2666T= (p.Phe889=)
c.986T= (p.Phe329=)
c.980T= (p.Phe327=)
n.3910T=
n.3896T=
15g.48756303A>CCA392343076CEP152c.2945T>G (p.Phe982Cys)
c.2666T>G (p.Phe889Cys)
c.986T>G (p.Phe329Cys)
c.980T>G (p.Phe327Cys)
n.3910T>G
n.3896T>G
15g.48756303A>GCA392343075CEP152c.2945T>C (p.Phe982Ser)
c.2666T>C (p.Phe889Ser)
c.986T>C (p.Phe329Ser)
c.980T>C (p.Phe327Ser)
n.3910T>C
n.3896T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48756303A>TCA392343074CEP152c.2945T>A (p.Phe982Tyr)
c.2666T>A (p.Phe889Tyr)
c.986T>A (p.Phe329Tyr)
c.980T>A (p.Phe327Tyr)
n.3910T>A
n.3896T>A
15g.48756304A>CCA392343079CEP152c.2944T>G (p.Phe982Val)
c.2665T>G (p.Phe889Val)
c.985T>G (p.Phe329Val)
c.979T>G (p.Phe327Val)
n.3909T>G
n.3895T>G
15g.48756304A>GCA392343077CEP152c.2944T>C (p.Phe982Leu)
c.2665T>C (p.Phe889Leu)
c.985T>C (p.Phe329Leu)
c.979T>C (p.Phe327Leu)
n.3909T>C
n.3895T>C
15g.48756304A>TCA392343078CEP152c.2944T>A (p.Phe982Ile)
c.2665T>A (p.Phe889Ile)
c.985T>A (p.Phe329Ile)
c.979T>A (p.Phe327Ile)
n.3909T>A
n.3895T>A
15g.48756305T>ACA392343080CEP152c.2943A>T (p.Gln981His)
c.2664A>T (p.Gln888His)
c.984A>T (p.Gln328His)
c.978A>T (p.Gln326His)
n.3908A>T
n.3894A>T
15g.48756305T>CCA490311313CEP152c.2943A>G (p.Gln981=)
c.2664A>G (p.Gln888=)
c.984A>G (p.Gln328=)
c.978A>G (p.Gln326=)
n.3908A>G
n.3894A>G
 gnomAD v4
15g.48756305T>GCA392343081CEP152c.2943A>C (p.Gln981His)
c.2664A>C (p.Gln888His)
c.984A>C (p.Gln328His)
c.978A>C (p.Gln326His)
n.3908A>C
n.3894A>C
15g.48756306T>ACA392343082CEP152c.2942A>T (p.Gln981Leu)
c.2663A>T (p.Gln888Leu)
c.983A>T (p.Gln328Leu)
c.977A>T (p.Gln326Leu)
n.3907A>T
n.3893A>T
15g.48756306T>CCA392343083CEP152c.2942A>G (p.Gln981Arg)
c.2663A>G (p.Gln888Arg)
c.983A>G (p.Gln328Arg)
c.977A>G (p.Gln326Arg)
n.3907A>G
n.3893A>G
 gnomAD v4
15g.48756306T>GCA392343084CEP152c.2942A>C (p.Gln981Pro)
c.2663A>C (p.Gln888Pro)
c.983A>C (p.Gln328Pro)
c.977A>C (p.Gln326Pro)
n.3907A>C
n.3893A>C
15g.48756307G>ACA392343085CEP152c.2941C>T (p.Gln981Ter)
c.2662C>T (p.Gln888Ter)
c.982C>T (p.Gln328Ter)
c.976C>T (p.Gln326Ter)
n.3906C>T
n.3892C>T
 gnomAD v4
15g.48756307G>CCA392343086CEP152c.2941C>G (p.Gln981Glu)
c.2662C>G (p.Gln888Glu)
c.982C>G (p.Gln328Glu)
c.976C>G (p.Gln326Glu)
n.3906C>G
n.3892C>G
15g.48756307G>TCA392343087CEP152c.2941C>A (p.Gln981Lys)
c.2662C>A (p.Gln888Lys)
c.982C>A (p.Gln328Lys)
c.976C>A (p.Gln326Lys)
n.3906C>A
n.3892C>A
15g.48756308C>ACA490311314CEP152c.2940G>T (p.Arg980=)
c.2661G>T (p.Arg887=)
c.981G>T (p.Arg327=)
c.975G>T (p.Arg325=)
n.3905G>T
n.3891G>T
 ClinVar
15g.48756308C=CA2175629036CEP152c.2940G= (p.Arg980=)
c.2661G= (p.Arg887=)
c.981G= (p.Arg327=)
c.975G= (p.Arg325=)
n.3905G=
n.3891G=
15g.48756308C>GCA490311315CEP152c.2940G>C (p.Arg980=)
c.2661G>C (p.Arg887=)
c.981G>C (p.Arg327=)
c.975G>C (p.Arg325=)
n.3905G>C
n.3891G>C
15g.48756308C>TCA490311316CEP152c.2940G>A (p.Arg980=)
c.2661G>A (p.Arg887=)
c.981G>A (p.Arg327=)
c.975G>A (p.Arg325=)
n.3905G>A
n.3891G>A
 dbSNP gnomAD v3 gnomAD v4
15g.48756309C>ACA392343088CEP152c.2939G>T (p.Arg980Leu)
c.2660G>T (p.Arg887Leu)
c.980G>T (p.Arg327Leu)
c.974G>T (p.Arg325Leu)
n.3904G>T
n.3890G>T
15g.48756309C=CA2175629038CEP152c.2939G= (p.Arg980=)
c.2660G= (p.Arg887=)
c.980G= (p.Arg327=)
c.974G= (p.Arg325=)
n.3904G=
n.3890G=
15g.48756309C>GCA392343089CEP152c.2939G>C (p.Arg980Pro)
c.2660G>C (p.Arg887Pro)
c.980G>C (p.Arg327Pro)
c.974G>C (p.Arg325Pro)
n.3904G>C
n.3890G>C
15g.48756309C>TCA269537959CEP152c.2939G>A (p.Arg980Gln)
c.2660G>A (p.Arg887Gln)
c.980G>A (p.Arg327Gln)
c.974G>A (p.Arg325Gln)
n.3904G>A
n.3890G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48756310G>ACA7548441CEP152c.2938C>T (p.Arg980Trp)
c.2659C>T (p.Arg887Trp)
c.979C>T (p.Arg327Trp)
c.973C>T (p.Arg325Trp)
n.3903C>T
n.3889C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756310G>CCA392343090CEP152c.2938C>G (p.Arg980Gly)
c.2659C>G (p.Arg887Gly)
c.979C>G (p.Arg327Gly)
c.973C>G (p.Arg325Gly)
n.3903C>G
n.3889C>G
15g.48756310G=CA2175629041CEP152c.2938C= (p.Arg980=)
c.2659C= (p.Arg887=)
c.979C= (p.Arg327=)
c.973C= (p.Arg325=)
n.3903C=
n.3889C=
15g.48756310G>TCA490311317CEP152c.2938C>A (p.Arg980=)
c.2659C>A (p.Arg887=)
c.979C>A (p.Arg327=)
c.973C>A (p.Arg325=)
n.3903C>A
n.3889C>A
15g.48756311delCA490311318CEP152c.2938del (p.Arg980GlyfsTer4)
c.2659del (p.Arg887GlyfsTer4)
c.979del (p.Arg327GlyfsTer4)
c.973del (p.Arg325GlyfsTer4)
n.3903del
n.3889del
15g.48756311G>ACA490311319CEP152c.2937C>T (p.Tyr979=)
c.2658C>T (p.Tyr886=)
c.978C>T (p.Tyr326=)
c.972C>T (p.Tyr324=)
n.3902C>T
n.3888C>T
 ClinVar gnomAD v4
15g.48756311G>CCA392343091CEP152c.2937C>G (p.Tyr979Ter)
c.2658C>G (p.Tyr886Ter)
c.978C>G (p.Tyr326Ter)
c.972C>G (p.Tyr324Ter)
n.3902C>G
n.3888C>G
15g.48756311G>TCA392343092CEP152c.2937C>A (p.Tyr979Ter)
c.2658C>A (p.Tyr886Ter)
c.978C>A (p.Tyr326Ter)
c.972C>A (p.Tyr324Ter)
n.3902C>A
n.3888C>A
15g.48756312T>ACA392343093CEP152c.2936A>T (p.Tyr979Phe)
c.2657A>T (p.Tyr886Phe)
c.977A>T (p.Tyr326Phe)
c.971A>T (p.Tyr324Phe)
n.3901A>T
n.3887A>T
15g.48756312T>CCA392343094CEP152c.2936A>G (p.Tyr979Cys)
c.2657A>G (p.Tyr886Cys)
c.977A>G (p.Tyr326Cys)
c.971A>G (p.Tyr324Cys)
n.3901A>G
n.3887A>G
15g.48756312T>GCA392343095CEP152c.2936A>C (p.Tyr979Ser)
c.2657A>C (p.Tyr886Ser)
c.977A>C (p.Tyr326Ser)
c.971A>C (p.Tyr324Ser)
n.3901A>C
n.3887A>C
15g.48756313A>CCA392343096CEP152c.2935T>G (p.Tyr979Asp)
c.2656T>G (p.Tyr886Asp)
c.976T>G (p.Tyr326Asp)
c.970T>G (p.Tyr324Asp)
n.3900T>G
n.3886T>G
15g.48756313A>GCA392343097CEP152c.2935T>C (p.Tyr979His)
c.2656T>C (p.Tyr886His)
c.976T>C (p.Tyr326His)
c.970T>C (p.Tyr324His)
n.3900T>C
n.3886T>C
15g.48756313A>TCA392343098CEP152c.2935T>A (p.Tyr979Asn)
c.2656T>A (p.Tyr886Asn)
c.976T>A (p.Tyr326Asn)
c.970T>A (p.Tyr324Asn)
n.3900T>A
n.3886T>A
 gnomAD v4
15g.48756314A>CCA392343099CEP152c.2934T>G (p.Asp978Glu)
c.2655T>G (p.Asp885Glu)
c.975T>G (p.Asp325Glu)
c.969T>G (p.Asp323Glu)
n.3899T>G
n.3885T>G
15g.48756314A>GCA490311320CEP152c.2934T>C (p.Asp978=)
c.2655T>C (p.Asp885=)
c.975T>C (p.Asp325=)
c.969T>C (p.Asp323=)
n.3899T>C
n.3885T>C
 gnomAD v4
15g.48756314A>TCA392343100CEP152c.2934T>A (p.Asp978Glu)
c.2655T>A (p.Asp885Glu)
c.975T>A (p.Asp325Glu)
c.969T>A (p.Asp323Glu)
n.3899T>A
n.3885T>A
15g.48756315T>ACA392343101CEP152c.2933A>T (p.Asp978Val)
c.2654A>T (p.Asp885Val)
c.974A>T (p.Asp325Val)
c.968A>T (p.Asp323Val)
n.3898A>T
n.3884A>T
 dbSNP
15g.48756315T>CCA7548442CEP152c.2933A>G (p.Asp978Gly)
c.2654A>G (p.Asp885Gly)
c.974A>G (p.Asp325Gly)
c.968A>G (p.Asp323Gly)
n.3898A>G
n.3884A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756315T>GCA392343102CEP152c.2933A>C (p.Asp978Ala)
c.2654A>C (p.Asp885Ala)
c.974A>C (p.Asp325Ala)
c.968A>C (p.Asp323Ala)
n.3898A>C
n.3884A>C
15g.48756315T=CA2175629046CEP152c.2933A= (p.Asp978=)
c.2654A= (p.Asp885=)
c.974A= (p.Asp325=)
c.968A= (p.Asp323=)
n.3898A=
n.3884A=
15g.48756316C>ACA392343103CEP152c.2932G>T (p.Asp978Tyr)
c.2653G>T (p.Asp885Tyr)
c.973G>T (p.Asp325Tyr)
c.967G>T (p.Asp323Tyr)
n.3897G>T
n.3883G>T
15g.48756316C=CA2175629048CEP152c.2932G= (p.Asp978=)
c.2653G= (p.Asp885=)
c.973G= (p.Asp325=)
c.967G= (p.Asp323=)
n.3897G=
n.3883G=
15g.48756316C>GCA392343104CEP152c.2932G>C (p.Asp978His)
c.2653G>C (p.Asp885His)
c.973G>C (p.Asp325His)
c.967G>C (p.Asp323His)
n.3897G>C
n.3883G>C
15g.48756316C>TCA269537979CEP152c.2932G>A (p.Asp978Asn)
c.2653G>A (p.Asp885Asn)
c.973G>A (p.Asp325Asn)
c.967G>A (p.Asp323Asn)
n.3897G>A
n.3883G>A
 dbSNP
15g.48756317T>ACA392343105CEP152c.2931A>T (p.Gln977His)
c.2652A>T (p.Gln884His)
c.972A>T (p.Gln324His)
c.966A>T (p.Gln322His)
n.3896A>T
n.3882A>T
 dbSNP gnomAD v2
15g.48756317T>CCA490311321CEP152c.2931A>G (p.Gln977=)
c.2652A>G (p.Gln884=)
c.972A>G (p.Gln324=)
c.966A>G (p.Gln322=)
n.3896A>G
n.3882A>G
15g.48756317T>GCA392343106CEP152c.2931A>C (p.Gln977His)
c.2652A>C (p.Gln884His)
c.972A>C (p.Gln324His)
c.966A>C (p.Gln322His)
n.3896A>C
n.3882A>C
15g.48756317T=CA2175629053CEP152c.2931A= (p.Gln977=)
c.2652A= (p.Gln884=)
c.972A= (p.Gln324=)
c.966A= (p.Gln322=)
n.3896A=
n.3882A=
15g.48756318T>ACA392343107CEP152c.2930A>T (p.Gln977Leu)
c.2651A>T (p.Gln884Leu)
c.971A>T (p.Gln324Leu)
c.965A>T (p.Gln322Leu)
n.3895A>T
n.3881A>T
15g.48756318T>CCA392343108CEP152c.2930A>G (p.Gln977Arg)
c.2651A>G (p.Gln884Arg)
c.971A>G (p.Gln324Arg)
c.965A>G (p.Gln322Arg)
n.3895A>G
n.3881A>G
15g.48756318T>GCA392343109CEP152c.2930A>C (p.Gln977Pro)
c.2651A>C (p.Gln884Pro)
c.971A>C (p.Gln324Pro)
c.965A>C (p.Gln322Pro)
n.3895A>C
n.3881A>C
15g.48756318_48756319delinsTGCA2175629058CEP152c.2929_2930delinsCA (p.Gln977=)
c.2650_2651delinsCA (p.Gln884=)
c.970_971delinsCA (p.Gln324=)
c.964_965delinsCA (p.Gln322=)
n.3894_3895delinsCA
n.3880_3881delinsCA
15g.48756319delCA7548443CEP152c.2929del (p.Gln977LysfsTer7)
c.2650del (p.Gln884LysfsTer7)
c.970del (p.Gln324LysfsTer7)
c.964del (p.Gln322LysfsTer7)
n.3894del
n.3880del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756319G>ACA392343110CEP152c.2929C>T (p.Gln977Ter)
c.2650C>T (p.Gln884Ter)
c.970C>T (p.Gln324Ter)
c.964C>T (p.Gln322Ter)
n.3894C>T
n.3880C>T
15g.48756319G>CCA269537980CEP152c.2929C>G (p.Gln977Glu)
c.2650C>G (p.Gln884Glu)
c.970C>G (p.Gln324Glu)
c.964C>G (p.Gln322Glu)
n.3894C>G
n.3880C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48756319G=CA2175629061CEP152c.2929C= (p.Gln977=)
c.2650C= (p.Gln884=)
c.970C= (p.Gln324=)
c.964C= (p.Gln322=)
n.3894C=
n.3880C=
15g.48756319G>TCA392343111CEP152c.2929C>A (p.Gln977Lys)
c.2650C>A (p.Gln884Lys)
c.970C>A (p.Gln324Lys)
c.964C>A (p.Gln322Lys)
n.3894C>A
n.3880C>A
15g.48756320C>ACA392343112CEP152c.2928G>T (p.Glu976Asp)
c.2649G>T (p.Glu883Asp)
c.969G>T (p.Glu323Asp)
c.963G>T (p.Glu321Asp)
n.3893G>T
n.3879G>T
 dbSNP
15g.48756320C=CA2175629066CEP152c.2928G= (p.Glu976=)
c.2649G= (p.Glu883=)
c.969G= (p.Glu323=)
c.963G= (p.Glu321=)
n.3893G=
n.3879G=
15g.48756320C>GCA392343113CEP152c.2928G>C (p.Glu976Asp)
c.2649G>C (p.Glu883Asp)
c.969G>C (p.Glu323Asp)
c.963G>C (p.Glu321Asp)
n.3893G>C
n.3879G>C
 dbSNP gnomAD v2 gnomAD v4
15g.48756320C>TCA7548444CEP152c.2928G>A (p.Glu976=)
c.2649G>A (p.Glu883=)
c.969G>A (p.Glu323=)
c.963G>A (p.Glu321=)
n.3893G>A
n.3879G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756321T>ACA392343114CEP152c.2927A>T (p.Glu976Val)
c.2648A>T (p.Glu883Val)
c.968A>T (p.Glu323Val)
c.962A>T (p.Glu321Val)
n.3892A>T
n.3878A>T
 gnomAD v4
15g.48756321T>CCA392343115CEP152c.2927A>G (p.Glu976Gly)
c.2648A>G (p.Glu883Gly)
c.968A>G (p.Glu323Gly)
c.962A>G (p.Glu321Gly)
n.3892A>G
n.3878A>G
15g.48756321T>GCA392343116CEP152c.2927A>C (p.Glu976Ala)
c.2648A>C (p.Glu883Ala)
c.968A>C (p.Glu323Ala)
c.962A>C (p.Glu321Ala)
n.3892A>C
n.3878A>C
15g.48756322C>ACA392343117CEP152c.2926G>T (p.Glu976Ter)
c.2647G>T (p.Glu883Ter)
c.967G>T (p.Glu323Ter)
c.961G>T (p.Glu321Ter)
n.3891G>T
n.3877G>T
15g.48756322C>GCA392343119CEP152c.2926G>C (p.Glu976Gln)
c.2647G>C (p.Glu883Gln)
c.967G>C (p.Glu323Gln)
c.961G>C (p.Glu321Gln)
n.3891G>C
n.3877G>C
15g.48756322C>TCA392343118CEP152c.2926G>A (p.Glu976Lys)
c.2647G>A (p.Glu883Lys)
c.967G>A (p.Glu323Lys)
c.961G>A (p.Glu321Lys)
n.3891G>A
n.3877G>A
15g.48756323A=CA2175629070CEP152c.2925T= (p.Asn975=)
c.2646T= (p.Asn882=)
c.966T= (p.Asn322=)
c.960T= (p.Asn320=)
n.3890T=
n.3876T=
15g.48756323A>CCA269537984CEP152c.2925T>G (p.Asn975Lys)
c.2646T>G (p.Asn882Lys)
c.966T>G (p.Asn322Lys)
c.960T>G (p.Asn320Lys)
n.3890T>G
n.3876T>G
 dbSNP gnomAD v4
15g.48756323A>GCA490311322CEP152c.2925T>C (p.Asn975=)
c.2646T>C (p.Asn882=)
c.966T>C (p.Asn322=)
c.960T>C (p.Asn320=)
n.3890T>C
n.3876T>C
15g.48756323A>TCA392343120CEP152c.2925T>A (p.Asn975Lys)
c.2646T>A (p.Asn882Lys)
c.966T>A (p.Asn322Lys)
c.960T>A (p.Asn320Lys)
n.3890T>A
n.3876T>A
15g.48756324T>ACA392343121CEP152c.2924A>T (p.Asn975Ile)
c.2645A>T (p.Asn882Ile)
c.965A>T (p.Asn322Ile)
c.959A>T (p.Asn320Ile)
n.3889A>T
n.3875A>T
15g.48756324T>CCA392343122CEP152c.2924A>G (p.Asn975Ser)
c.2645A>G (p.Asn882Ser)
c.965A>G (p.Asn322Ser)
c.959A>G (p.Asn320Ser)
n.3889A>G
n.3875A>G
15g.48756324T>GCA392343123CEP152c.2924A>C (p.Asn975Thr)
c.2645A>C (p.Asn882Thr)
c.965A>C (p.Asn322Thr)
c.959A>C (p.Asn320Thr)
n.3889A>C
n.3875A>C
15g.48756325T>ACA392343124CEP152c.2923A>T (p.Asn975Tyr)
c.2644A>T (p.Asn882Tyr)
c.964A>T (p.Asn322Tyr)
c.958A>T (p.Asn320Tyr)
n.3888A>T
n.3874A>T
15g.48756325T>CCA392343125CEP152c.2923A>G (p.Asn975Asp)
c.2644A>G (p.Asn882Asp)
c.964A>G (p.Asn322Asp)
c.958A>G (p.Asn320Asp)
n.3888A>G
n.3874A>G
 gnomAD v4
15g.48756325T>GCA392343126CEP152c.2923A>C (p.Asn975His)
c.2644A>C (p.Asn882His)
c.964A>C (p.Asn322His)
c.958A>C (p.Asn320His)
n.3888A>C
n.3874A>C
15g.48756326T>ACA392343127CEP152c.2922A>T (p.Gln974His)
c.2643A>T (p.Gln881His)
c.963A>T (p.Gln321His)
c.957A>T (p.Gln319His)
n.3887A>T
n.3873A>T
15g.48756326T>CCA490311323CEP152c.2922A>G (p.Gln974=)
c.2643A>G (p.Gln881=)
c.963A>G (p.Gln321=)
c.957A>G (p.Gln319=)
n.3887A>G
n.3873A>G
15g.48756326T>GCA392343128CEP152c.2922A>C (p.Gln974His)
c.2643A>C (p.Gln881His)
c.963A>C (p.Gln321His)
c.957A>C (p.Gln319His)
n.3887A>C
n.3873A>C
15g.48756327T>ACA392343131CEP152c.2921A>T (p.Gln974Leu)
c.2642A>T (p.Gln881Leu)
c.962A>T (p.Gln321Leu)
c.956A>T (p.Gln319Leu)
n.3886A>T
n.3872A>T
15g.48756327T>CCA392343130CEP152c.2921A>G (p.Gln974Arg)
c.2642A>G (p.Gln881Arg)
c.962A>G (p.Gln321Arg)
c.956A>G (p.Gln319Arg)
n.3886A>G
n.3872A>G
15g.48756327T>GCA392343129CEP152c.2921A>C (p.Gln974Pro)
c.2642A>C (p.Gln881Pro)
c.962A>C (p.Gln321Pro)
c.956A>C (p.Gln319Pro)
n.3886A>C
n.3872A>C
15g.48756328G>ACA7548446CEP152c.2920C>T (p.Gln974Ter)
c.2641C>T (p.Gln881Ter)
c.961C>T (p.Gln321Ter)
c.955C>T (p.Gln319Ter)
n.3885C>T
n.3871C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756328G>CCA392343132CEP152c.2920C>G (p.Gln974Glu)
c.2641C>G (p.Gln881Glu)
c.961C>G (p.Gln321Glu)
c.955C>G (p.Gln319Glu)
n.3885C>G
n.3871C>G
15g.48756328G=CA2175629077CEP152c.2920C= (p.Gln974=)
c.2641C= (p.Gln881=)
c.961C= (p.Gln321=)
c.955C= (p.Gln319=)
n.3885C=
n.3871C=
15g.48756328G>TCA7548445CEP152c.2920C>A (p.Gln974Lys)
c.2641C>A (p.Gln881Lys)
c.961C>A (p.Gln321Lys)
c.955C>A (p.Gln319Lys)
n.3885C>A
n.3871C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756329T>ACA392343133CEP152c.2919A>T (p.Glu973Asp)
c.2640A>T (p.Glu880Asp)
c.960A>T (p.Glu320Asp)
c.954A>T (p.Glu318Asp)
n.3884A>T
n.3870A>T
15g.48756329T>CCA7548447CEP152c.2919A>G (p.Glu973=)
c.2640A>G (p.Glu880=)
c.960A>G (p.Glu320=)
c.954A>G (p.Glu318=)
n.3884A>G
n.3870A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756329T>GCA392343134CEP152c.2919A>C (p.Glu973Asp)
c.2640A>C (p.Glu880Asp)
c.960A>C (p.Glu320Asp)
c.954A>C (p.Glu318Asp)
n.3884A>C
n.3870A>C
15g.48756329T=CA2175629083CEP152c.2919A= (p.Glu973=)
c.2640A= (p.Glu880=)
c.960A= (p.Glu320=)
c.954A= (p.Glu318=)
n.3884A=
n.3870A=
15g.48756330T>ACA392343135CEP152c.2918A>T (p.Glu973Val)
c.2639A>T (p.Glu880Val)
c.959A>T (p.Glu320Val)
c.953A>T (p.Glu318Val)
n.3883A>T
n.3869A>T
15g.48756330T>CCA392343136CEP152c.2918A>G (p.Glu973Gly)
c.2639A>G (p.Glu880Gly)
c.959A>G (p.Glu320Gly)
c.953A>G (p.Glu318Gly)
n.3883A>G
n.3869A>G
15g.48756330T>GCA392343137CEP152c.2918A>C (p.Glu973Ala)
c.2639A>C (p.Glu880Ala)
c.959A>C (p.Glu320Ala)
c.953A>C (p.Glu318Ala)
n.3883A>C
n.3869A>C
15g.48756331C>ACA392343138CEP152c.2917G>T (p.Glu973Ter)
c.2638G>T (p.Glu880Ter)
c.958G>T (p.Glu320Ter)
c.952G>T (p.Glu318Ter)
n.3882G>T
n.3868G>T
15g.48756331C>GCA392343139CEP152c.2917G>C (p.Glu973Gln)
c.2638G>C (p.Glu880Gln)
c.958G>C (p.Glu320Gln)
c.952G>C (p.Glu318Gln)
n.3882G>C
n.3868G>C
15g.48756331C>TCA392343140CEP152c.2917G>A (p.Glu973Lys)
c.2638G>A (p.Glu880Lys)
c.958G>A (p.Glu320Lys)
c.952G>A (p.Glu318Lys)
n.3882G>A
n.3868G>A
 COSMIC
15g.48756332T>ACA392343142CEP152c.2916A>T (p.Gln972His)
c.2637A>T (p.Gln879His)
c.957A>T (p.Gln319His)
c.951A>T (p.Gln317His)
n.3881A>T
n.3867A>T
15g.48756332T>CCA490311324CEP152c.2916A>G (p.Gln972=)
c.2637A>G (p.Gln879=)
c.957A>G (p.Gln319=)
c.951A>G (p.Gln317=)
n.3881A>G
n.3867A>G
15g.48756332T>GCA392343141CEP152c.2916A>C (p.Gln972His)
c.2637A>C (p.Gln879His)
c.957A>C (p.Gln319His)
c.951A>C (p.Gln317His)
n.3881A>C
n.3867A>C
15g.48756333T>ACA392343143CEP152c.2915A>T (p.Gln972Leu)
c.2636A>T (p.Gln879Leu)
c.956A>T (p.Gln319Leu)
c.950A>T (p.Gln317Leu)
n.3880A>T
n.3866A>T
15g.48756333T>CCA392343144CEP152c.2915A>G (p.Gln972Arg)
c.2636A>G (p.Gln879Arg)
c.956A>G (p.Gln319Arg)
c.950A>G (p.Gln317Arg)
n.3880A>G
n.3866A>G
15g.48756333T>GCA392343145CEP152c.2915A>C (p.Gln972Pro)
c.2636A>C (p.Gln879Pro)
c.956A>C (p.Gln319Pro)
c.950A>C (p.Gln317Pro)
n.3880A>C
n.3866A>C
 gnomAD v4
15g.48756334G>ACA392343146CEP152c.2914C>T (p.Gln972Ter)
c.2635C>T (p.Gln879Ter)
c.955C>T (p.Gln319Ter)
c.949C>T (p.Gln317Ter)
n.3879C>T
n.3865C>T
15g.48756334G>CCA392343147CEP152c.2914C>G (p.Gln972Glu)
c.2635C>G (p.Gln879Glu)
c.955C>G (p.Gln319Glu)
c.949C>G (p.Gln317Glu)
n.3879C>G
n.3865C>G
15g.48756334G>TCA392343148CEP152c.2914C>A (p.Gln972Lys)
c.2635C>A (p.Gln879Lys)
c.955C>A (p.Gln319Lys)
c.949C>A (p.Gln317Lys)
n.3879C>A
n.3865C>A
15g.48756335G>ACA490311325CEP152c.2913C>T (p.Ile971=)
c.2634C>T (p.Ile878=)
c.954C>T (p.Ile318=)
c.948C>T (p.Ile316=)
n.3878C>T
n.3864C>T
15g.48756335G>CCA392343149CEP152c.2913C>G (p.Ile971Met)
c.2634C>G (p.Ile878Met)
c.954C>G (p.Ile318Met)
c.948C>G (p.Ile316Met)
n.3878C>G
n.3864C>G
 COSMIC COSMIC
15g.48756335G>TCA490311326CEP152c.2913C>A (p.Ile971=)
c.2634C>A (p.Ile878=)
c.954C>A (p.Ile318=)
c.948C>A (p.Ile316=)
n.3878C>A
n.3864C>A
15g.48756336A>CCA392343150CEP152c.2912T>G (p.Ile971Ser)
c.2633T>G (p.Ile878Ser)
c.953T>G (p.Ile318Ser)
c.947T>G (p.Ile316Ser)
n.3877T>G
n.3863T>G
15g.48756336A>GCA392343151CEP152c.2912T>C (p.Ile971Thr)
c.2633T>C (p.Ile878Thr)
c.953T>C (p.Ile318Thr)
c.947T>C (p.Ile316Thr)
n.3877T>C
n.3863T>C
15g.48756336A>TCA392343152CEP152c.2912T>A (p.Ile971Asn)
c.2633T>A (p.Ile878Asn)
c.953T>A (p.Ile318Asn)
c.947T>A (p.Ile316Asn)
n.3877T>A
n.3863T>A
15g.48756337T>ACA392343153CEP152c.2911A>T (p.Ile971Phe)
c.2632A>T (p.Ile878Phe)
c.952A>T (p.Ile318Phe)
c.946A>T (p.Ile316Phe)
n.3876A>T
n.3862A>T
15g.48756337T>CCA392343154CEP152c.2911A>G (p.Ile971Val)
c.2632A>G (p.Ile878Val)
c.952A>G (p.Ile318Val)
c.946A>G (p.Ile316Val)
n.3876A>G
n.3862A>G
15g.48756337T>GCA269538028CEP152c.2911A>C (p.Ile971Leu)
c.2632A>C (p.Ile878Leu)
c.952A>C (p.Ile318Leu)
c.946A>C (p.Ile316Leu)
n.3876A>C
n.3862A>C
 dbSNP gnomAD v2 gnomAD v4
15g.48756337T=CA2175629085CEP152c.2911A= (p.Ile971=)
c.2632A= (p.Ile878=)
c.952A= (p.Ile318=)
c.946A= (p.Ile316=)
n.3876A=
n.3862A=
15g.48756338T>ACA392343155CEP152c.2910A>T (p.Arg970Ser)
c.2631A>T (p.Arg877Ser)
c.951A>T (p.Arg317Ser)
c.945A>T (p.Arg315Ser)
n.3875A>T
n.3861A>T
 gnomAD v4
15g.48756338T>CCA490311327CEP152c.2910A>G (p.Arg970=)
c.2631A>G (p.Arg877=)
c.951A>G (p.Arg317=)
c.945A>G (p.Arg315=)
n.3875A>G
n.3861A>G
15g.48756338T>GCA392343156CEP152c.2910A>C (p.Arg970Ser)
c.2631A>C (p.Arg877Ser)
c.951A>C (p.Arg317Ser)
c.945A>C (p.Arg315Ser)
n.3875A>C
n.3861A>C
15g.48756339C>ACA392343157CEP152c.2909G>T (p.Arg970Ile)
c.2630G>T (p.Arg877Ile)
c.950G>T (p.Arg317Ile)
c.944G>T (p.Arg315Ile)
n.3874G>T
n.3860G>T
15g.48756339C>GCA392343159CEP152c.2909G>C (p.Arg970Thr)
c.2630G>C (p.Arg877Thr)
c.950G>C (p.Arg317Thr)
c.944G>C (p.Arg315Thr)
n.3874G>C
n.3860G>C
15g.48756339C>TCA392343158CEP152c.2909G>A (p.Arg970Lys)
c.2630G>A (p.Arg877Lys)
c.950G>A (p.Arg317Lys)
c.944G>A (p.Arg315Lys)
n.3874G>A
n.3860G>A
15g.48756340T>ACA392343160CEP152c.2908A>T (p.Arg970Ter)
c.2629A>T (p.Arg877Ter)
c.949A>T (p.Arg317Ter)
c.943A>T (p.Arg315Ter)
n.3873A>T
n.3859A>T
 dbSNP gnomAD v2 gnomAD v4
15g.48756340T>CCA392343161CEP152c.2908A>G (p.Arg970Gly)
c.2629A>G (p.Arg877Gly)
c.949A>G (p.Arg317Gly)
c.943A>G (p.Arg315Gly)
n.3873A>G
n.3859A>G
15g.48756340T>GCA490311328CEP152c.2908A>C (p.Arg970=)
c.2629A>C (p.Arg877=)
c.949A>C (p.Arg317=)
c.943A>C (p.Arg315=)
n.3873A>C
n.3859A>C
15g.48756340T=CA2175629088CEP152c.2908A= (p.Arg970=)
c.2629A= (p.Arg877=)
c.949A= (p.Arg317=)
c.943A= (p.Arg315=)
n.3873A=
n.3859A=
15g.48756341G>ACA490311329CEP152c.2907C>T (p.His969=)
c.2628C>T (p.His876=)
c.948C>T (p.His316=)
c.942C>T (p.His314=)
n.3872C>T
n.3858C>T
15g.48756341G>CCA392343162CEP152c.2907C>G (p.His969Gln)
c.2628C>G (p.His876Gln)
c.948C>G (p.His316Gln)
c.942C>G (p.His314Gln)
n.3872C>G
n.3858C>G
15g.48756341G>TCA392343163CEP152c.2907C>A (p.His969Gln)
c.2628C>A (p.His876Gln)
c.948C>A (p.His316Gln)
c.942C>A (p.His314Gln)
n.3872C>A
n.3858C>A
15g.48756342T>ACA392343164CEP152c.2906A>T (p.His969Leu)
c.2627A>T (p.His876Leu)
c.947A>T (p.His316Leu)
c.941A>T (p.His314Leu)
n.3871A>T
n.3857A>T
15g.48756342T>CCA392343165CEP152c.2906A>G (p.His969Arg)
c.2627A>G (p.His876Arg)
c.947A>G (p.His316Arg)
c.941A>G (p.His314Arg)
n.3871A>G
n.3857A>G
15g.48756342T>GCA392343166CEP152c.2906A>C (p.His969Pro)
c.2627A>C (p.His876Pro)
c.947A>C (p.His316Pro)
c.941A>C (p.His314Pro)
n.3871A>C
n.3857A>C
15g.48756343G>ACA7548448CEP152c.2905C>T (p.His969Tyr)
c.2626C>T (p.His876Tyr)
c.946C>T (p.His316Tyr)
c.940C>T (p.His314Tyr)
n.3870C>T
n.3856C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756343G>CCA392343167CEP152c.2905C>G (p.His969Asp)
c.2626C>G (p.His876Asp)
c.946C>G (p.His316Asp)
c.940C>G (p.His314Asp)
n.3870C>G
n.3856C>G
15g.48756343G=CA2175629091CEP152c.2905C= (p.His969=)
c.2626C= (p.His876=)
c.946C= (p.His316=)
c.940C= (p.His314=)
n.3870C=
n.3856C=
15g.48756343G>TCA392343168CEP152c.2905C>A (p.His969Asn)
c.2626C>A (p.His876Asn)
c.946C>A (p.His316Asn)
c.940C>A (p.His314Asn)
n.3870C>A
n.3856C>A
15g.48756344G>ACA490311330CEP152c.2904C>T (p.Ile968=)
c.2625C>T (p.Ile875=)
c.945C>T (p.Ile315=)
c.939C>T (p.Ile313=)
n.3869C>T
n.3855C>T
 gnomAD v4
15g.48756344G>CCA392343169CEP152c.2904C>G (p.Ile968Met)
c.2625C>G (p.Ile875Met)
c.945C>G (p.Ile315Met)
c.939C>G (p.Ile313Met)
n.3869C>G
n.3855C>G
15g.48756344G=CA2175629095CEP152c.2904C= (p.Ile968=)
c.2625C= (p.Ile875=)
c.945C= (p.Ile315=)
c.939C= (p.Ile313=)
n.3869C=
n.3855C=
15g.48756344G>TCA490311331CEP152c.2904C>A (p.Ile968=)
c.2625C>A (p.Ile875=)
c.945C>A (p.Ile315=)
c.939C>A (p.Ile313=)
n.3869C>A
n.3855C>A
 dbSNP
15g.48756345A>CCA392343170CEP152c.2903T>G (p.Ile968Ser)
c.2624T>G (p.Ile875Ser)
c.944T>G (p.Ile315Ser)
c.938T>G (p.Ile313Ser)
n.3868T>G
n.3854T>G
15g.48756345A>GCA392343171CEP152c.2903T>C (p.Ile968Thr)
c.2624T>C (p.Ile875Thr)
c.944T>C (p.Ile315Thr)
c.938T>C (p.Ile313Thr)
n.3868T>C
n.3854T>C
15g.48756345A>TCA392343172CEP152c.2903T>A (p.Ile968Asn)
c.2624T>A (p.Ile875Asn)
c.944T>A (p.Ile315Asn)
c.938T>A (p.Ile313Asn)
n.3868T>A
n.3854T>A
15g.48756346T>ACA392343173CEP152c.2902A>T (p.Ile968Phe)
c.2623A>T (p.Ile875Phe)
c.943A>T (p.Ile315Phe)
c.937A>T (p.Ile313Phe)
n.3867A>T
n.3853A>T
15g.48756346T>CCA269538035CEP152c.2902A>G (p.Ile968Val)
c.2623A>G (p.Ile875Val)
c.943A>G (p.Ile315Val)
c.937A>G (p.Ile313Val)
n.3867A>G
n.3853A>G
 dbSNP
15g.48756346T>GCA392343174CEP152c.2902A>C (p.Ile968Leu)
c.2623A>C (p.Ile875Leu)
c.943A>C (p.Ile315Leu)
c.937A>C (p.Ile313Leu)
n.3867A>C
n.3853A>C
15g.48756346T=CA2175629098CEP152c.2902A= (p.Ile968=)
c.2623A= (p.Ile875=)
c.943A= (p.Ile315=)
c.937A= (p.Ile313=)
n.3867A=
n.3853A=
15g.48756347T>ACA392343176CEP152c.2901A>T (p.Glu967Asp)
c.2622A>T (p.Glu874Asp)
c.942A>T (p.Glu314Asp)
c.936A>T (p.Glu312Asp)
n.3866A>T
n.3852A>T
15g.48756347T>CCA10647104CEP152c.2901A>G (p.Glu967=)
c.2622A>G (p.Glu874=)
c.942A>G (p.Glu314=)
c.936A>G (p.Glu312=)
n.3866A>G
n.3852A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.48756347T>GCA392343175CEP152c.2901A>C (p.Glu967Asp)
c.2622A>C (p.Glu874Asp)
c.942A>C (p.Glu314Asp)
c.936A>C (p.Glu312Asp)
n.3866A>C
n.3852A>C
15g.48756347T=CA2175629107CEP152c.2901A= (p.Glu967=)
c.2622A= (p.Glu874=)
c.942A= (p.Glu314=)
c.936A= (p.Glu312=)
n.3866A=
n.3852A=
15g.48756348T>ACA392343177CEP152c.2900A>T (p.Glu967Val)
c.2621A>T (p.Glu874Val)
c.941A>T (p.Glu314Val)
c.935A>T (p.Glu312Val)
n.3865A>T
n.3851A>T
15g.48756348T>CCA392343178CEP152c.2900A>G (p.Glu967Gly)
c.2621A>G (p.Glu874Gly)
c.941A>G (p.Glu314Gly)
c.935A>G (p.Glu312Gly)
n.3865A>G
n.3851A>G
15g.48756348T>GCA392343179CEP152c.2900A>C (p.Glu967Ala)
c.2621A>C (p.Glu874Ala)
c.941A>C (p.Glu314Ala)
c.935A>C (p.Glu312Ala)
n.3865A>C
n.3851A>C
15g.48756349C>ACA392343180CEP152c.2899G>T (p.Glu967Ter)
c.2620G>T (p.Glu874Ter)
c.940G>T (p.Glu314Ter)
c.934G>T (p.Glu312Ter)
n.3864G>T
n.3850G>T
15g.48756349C=CA2175629111CEP152c.2899G= (p.Glu967=)
c.2620G= (p.Glu874=)
c.940G= (p.Glu314=)
c.934G= (p.Glu312=)
n.3864G=
n.3850G=
15g.48756349C>GCA392343181CEP152c.2899G>C (p.Glu967Gln)
c.2620G>C (p.Glu874Gln)
c.940G>C (p.Glu314Gln)
c.934G>C (p.Glu312Gln)
n.3864G>C
n.3850G>C
15g.48756349C>TCA392343182CEP152c.2899G>A (p.Glu967Lys)
c.2620G>A (p.Glu874Lys)
c.940G>A (p.Glu314Lys)
c.934G>A (p.Glu312Lys)
n.3864G>A
n.3850G>A
 dbSNP gnomAD v4
15g.48756350T>ACA392343183CEP152c.2898A>T (p.Glu966Asp)
c.2619A>T (p.Glu873Asp)
c.939A>T (p.Glu313Asp)
c.933A>T (p.Glu311Asp)
n.3863A>T
n.3849A>T
15g.48756350T>CCA269538042CEP152c.2898A>G (p.Glu966=)
c.2619A>G (p.Glu873=)
c.939A>G (p.Glu313=)
c.933A>G (p.Glu311=)
n.3863A>G
n.3849A>G
 dbSNP gnomAD v4
15g.48756350T>GCA392343184CEP152c.2898A>C (p.Glu966Asp)
c.2619A>C (p.Glu873Asp)
c.939A>C (p.Glu313Asp)
c.933A>C (p.Glu311Asp)
n.3863A>C
n.3849A>C
15g.48756350T=CA2175629114CEP152c.2898A= (p.Glu966=)
c.2619A= (p.Glu873=)
c.939A= (p.Glu313=)
c.933A= (p.Glu311=)
n.3863A=
n.3849A=
15g.48756351T>ACA392343185CEP152c.2897A>T (p.Glu966Val)
c.2618A>T (p.Glu873Val)
c.938A>T (p.Glu313Val)
c.932A>T (p.Glu311Val)
n.3862A>T
n.3848A>T
15g.48756351T>CCA269538046CEP152c.2897A>G (p.Glu966Gly)
c.2618A>G (p.Glu873Gly)
c.938A>G (p.Glu313Gly)
c.932A>G (p.Glu311Gly)
n.3862A>G
n.3848A>G
 dbSNP gnomAD v4
15g.48756351T>GCA392343186CEP152c.2897A>C (p.Glu966Ala)
c.2618A>C (p.Glu873Ala)
c.938A>C (p.Glu313Ala)
c.932A>C (p.Glu311Ala)
n.3862A>C
n.3848A>C
15g.48756351T=CA2175629120CEP152c.2897A= (p.Glu966=)
c.2618A= (p.Glu873=)
c.938A= (p.Glu313=)
c.932A= (p.Glu311=)
n.3862A=
n.3848A=
15g.48756352C>ACA392343187CEP152c.2896G>T (p.Glu966Ter)
c.2617G>T (p.Glu873Ter)
c.937G>T (p.Glu313Ter)
c.931G>T (p.Glu311Ter)
n.3861G>T
n.3847G>T
 gnomAD v4
15g.48756352C=CA2175629123CEP152c.2896G= (p.Glu966=)
c.2617G= (p.Glu873=)
c.937G= (p.Glu313=)
c.931G= (p.Glu311=)
n.3861G=
n.3847G=
15g.48756352C>GCA392343189CEP152c.2896G>C (p.Glu966Gln)
c.2617G>C (p.Glu873Gln)
c.937G>C (p.Glu313Gln)
c.931G>C (p.Glu311Gln)
n.3861G>C
n.3847G>C
 gnomAD v4
15g.48756352C>TCA392343188CEP152c.2896G>A (p.Glu966Lys)
c.2617G>A (p.Glu873Lys)
c.937G>A (p.Glu313Lys)
c.931G>A (p.Glu311Lys)
n.3861G>A
n.3847G>A
 dbSNP gnomAD v3 gnomAD v4
15g.48756355_48756358delCA2575718055CEP152c.2893_2896del (p.Gln965LysfsTer18)
c.2614_2617del (p.Gln872LysfsTer18)
c.934_937del (p.Gln312LysfsTer18)
c.928_931del (p.Gln310LysfsTer18)
n.3858_3861del
n.3844_3847del
 gnomAD v4
15g.48756353T>ACA392343190CEP152c.2895A>T (p.Gln965His)
c.2616A>T (p.Gln872His)
c.936A>T (p.Gln312His)
c.930A>T (p.Gln310His)
n.3860A>T
n.3846A>T
15g.48756353T>CCA490311332CEP152c.2895A>G (p.Gln965=)
c.2616A>G (p.Gln872=)
c.936A>G (p.Gln312=)
c.930A>G (p.Gln310=)
n.3860A>G
n.3846A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48756353T>GCA392343191CEP152c.2895A>C (p.Gln965His)
c.2616A>C (p.Gln872His)
c.936A>C (p.Gln312His)
c.930A>C (p.Gln310His)
n.3860A>C
n.3846A>C
15g.48756353T=CA2175629127CEP152c.2895A= (p.Gln965=)
c.2616A= (p.Gln872=)
c.936A= (p.Gln312=)
c.930A= (p.Gln310=)
n.3860A=
n.3846A=
15g.48756354T>ACA392343192CEP152c.2894A>T (p.Gln965Leu)
c.2615A>T (p.Gln872Leu)
c.935A>T (p.Gln312Leu)
c.929A>T (p.Gln310Leu)
n.3859A>T
n.3845A>T
15g.48756354T>CCA269538051CEP152c.2894A>G (p.Gln965Arg)
c.2615A>G (p.Gln872Arg)
c.935A>G (p.Gln312Arg)
c.929A>G (p.Gln310Arg)
n.3859A>G
n.3845A>G
 dbSNP
15g.48756354T>GCA392343193CEP152c.2894A>C (p.Gln965Pro)
c.2615A>C (p.Gln872Pro)
c.935A>C (p.Gln312Pro)
c.929A>C (p.Gln310Pro)
n.3859A>C
n.3845A>C
15g.48756354T=CA2175629132CEP152c.2894A= (p.Gln965=)
c.2615A= (p.Gln872=)
c.935A= (p.Gln312=)
c.929A= (p.Gln310=)
n.3859A=
n.3845A=
15g.48756355G>ACA392343194CEP152c.2893C>T (p.Gln965Ter)
c.2614C>T (p.Gln872Ter)
c.934C>T (p.Gln312Ter)
c.928C>T (p.Gln310Ter)
n.3858C>T
n.3844C>T
 dbSNP
15g.48756355G>CCA7548449CEP152c.2893C>G (p.Gln965Glu)
c.2614C>G (p.Gln872Glu)
c.934C>G (p.Gln312Glu)
c.928C>G (p.Gln310Glu)
n.3858C>G
n.3844C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756355G=CA2175629138CEP152c.2893C= (p.Gln965=)
c.2614C= (p.Gln872=)
c.934C= (p.Gln312=)
c.928C= (p.Gln310=)
n.3858C=
n.3844C=
15g.48756355G>TCA392343195CEP152c.2893C>A (p.Gln965Lys)
c.2614C>A (p.Gln872Lys)
c.934C>A (p.Gln312Lys)
c.928C>A (p.Gln310Lys)
n.3858C>A
n.3844C>A
15g.48756356C>ACA392343196CEP152c.2892G>T (p.Lys964Asn)
c.2613G>T (p.Lys871Asn)
c.933G>T (p.Lys311Asn)
c.927G>T (p.Lys309Asn)
n.3857G>T
n.3843G>T
 dbSNP gnomAD v2 gnomAD v4
15g.48756356C=CA2175629141CEP152c.2892G= (p.Lys964=)
c.2613G= (p.Lys871=)
c.933G= (p.Lys311=)
c.927G= (p.Lys309=)
n.3857G=
n.3843G=
15g.48756356C>GCA392343197CEP152c.2892G>C (p.Lys964Asn)
c.2613G>C (p.Lys871Asn)
c.933G>C (p.Lys311Asn)
c.927G>C (p.Lys309Asn)
n.3857G>C
n.3843G>C
15g.48756356C>TCA490311333CEP152c.2892G>A (p.Lys964=)
c.2613G>A (p.Lys871=)
c.933G>A (p.Lys311=)
c.927G>A (p.Lys309=)
n.3857G>A
n.3843G>A
 dbSNP gnomAD v4
15g.48756357T>ACA392343198CEP152c.2891A>T (p.Lys964Met)
c.2612A>T (p.Lys871Met)
c.932A>T (p.Lys311Met)
c.926A>T (p.Lys309Met)
n.3856A>T
n.3842A>T
15g.48756357T>CCA392343199CEP152c.2891A>G (p.Lys964Arg)
c.2612A>G (p.Lys871Arg)
c.932A>G (p.Lys311Arg)
c.926A>G (p.Lys309Arg)
n.3856A>G
n.3842A>G
15g.48756357T>GCA392343200CEP152c.2891A>C (p.Lys964Thr)
c.2612A>C (p.Lys871Thr)
c.932A>C (p.Lys311Thr)
c.926A>C (p.Lys309Thr)
n.3856A>C
n.3842A>C
15g.48756358T>ACA392343201CEP152c.2890A>T (p.Lys964Ter)
c.2611A>T (p.Lys871Ter)
c.931A>T (p.Lys311Ter)
c.925A>T (p.Lys309Ter)
n.3855A>T
n.3841A>T
15g.48756358T>CCA392343203CEP152c.2890A>G (p.Lys964Glu)
c.2611A>G (p.Lys871Glu)
c.931A>G (p.Lys311Glu)
c.925A>G (p.Lys309Glu)
n.3855A>G
n.3841A>G
 gnomAD v4
15g.48756358T>GCA392343202CEP152c.2890A>C (p.Lys964Gln)
c.2611A>C (p.Lys871Gln)
c.931A>C (p.Lys311Gln)
c.925A>C (p.Lys309Gln)
n.3855A>C
n.3841A>C
15g.48756359T>ACA392343204CEP152c.2889A>T (p.Glu963Asp)
c.2610A>T (p.Glu870Asp)
c.930A>T (p.Glu310Asp)
c.924A>T (p.Glu308Asp)
n.3854A>T
n.3840A>T
15g.48756359T>CCA490311334CEP152c.2889A>G (p.Glu963=)
c.2610A>G (p.Glu870=)
c.930A>G (p.Glu310=)
c.924A>G (p.Glu308=)
n.3854A>G
n.3840A>G
15g.48756359T>GCA392343205CEP152c.2889A>C (p.Glu963Asp)
c.2610A>C (p.Glu870Asp)
c.930A>C (p.Glu310Asp)
c.924A>C (p.Glu308Asp)
n.3854A>C
n.3840A>C
15g.48756360T>ACA392343206CEP152c.2888A>T (p.Glu963Val)
c.2609A>T (p.Glu870Val)
c.929A>T (p.Glu310Val)
c.923A>T (p.Glu308Val)
n.3853A>T
n.3839A>T
15g.48756360T>CCA392343207CEP152c.2888A>G (p.Glu963Gly)
c.2609A>G (p.Glu870Gly)
c.929A>G (p.Glu310Gly)
c.923A>G (p.Glu308Gly)
n.3853A>G
n.3839A>G
 gnomAD v4
15g.48756360T>GCA392343208CEP152c.2888A>C (p.Glu963Ala)
c.2609A>C (p.Glu870Ala)
c.929A>C (p.Glu310Ala)
c.923A>C (p.Glu308Ala)
n.3853A>C
n.3839A>C
15g.48756361C>ACA392343209CEP152c.2887G>T (p.Glu963Ter)
c.2608G>T (p.Glu870Ter)
c.928G>T (p.Glu310Ter)
c.922G>T (p.Glu308Ter)
n.3852G>T
n.3838G>T
 COSMIC
15g.48756361C>GCA392343210CEP152c.2887G>C (p.Glu963Gln)
c.2608G>C (p.Glu870Gln)
c.928G>C (p.Glu310Gln)
c.922G>C (p.Glu308Gln)
n.3852G>C
n.3838G>C
15g.48756361C>TCA392343211CEP152c.2887G>A (p.Glu963Lys)
c.2608G>A (p.Glu870Lys)
c.928G>A (p.Glu310Lys)
c.922G>A (p.Glu308Lys)
n.3852G>A
n.3838G>A
15g.48756362T>ACA392343212CEP152c.2886A>T (p.Lys962Asn)
c.2607A>T (p.Lys869Asn)
c.927A>T (p.Lys309Asn)
c.921A>T (p.Lys307Asn)
n.3851A>T
n.3837A>T
15g.48756362T>CCA490311336CEP152c.2886A>G (p.Lys962=)
c.2607A>G (p.Lys869=)
c.927A>G (p.Lys309=)
c.921A>G (p.Lys307=)
n.3851A>G
n.3837A>G
 ClinVar
15g.48756362T>GCA392343213CEP152c.2886A>C (p.Lys962Asn)
c.2607A>C (p.Lys869Asn)
c.927A>C (p.Lys309Asn)
c.921A>C (p.Lys307Asn)
n.3851A>C
n.3837A>C
 COSMIC COSMIC
15g.48756363T>ACA392343215CEP152c.2885A>T (p.Lys962Ile)
c.2606A>T (p.Lys869Ile)
c.926A>T (p.Lys309Ile)
c.920A>T (p.Lys307Ile)
n.3850A>T
n.3836A>T
15g.48756363T>CCA392343216CEP152c.2885A>G (p.Lys962Arg)
c.2606A>G (p.Lys869Arg)
c.926A>G (p.Lys309Arg)
c.920A>G (p.Lys307Arg)
n.3850A>G
n.3836A>G
15g.48756363T>GCA392343214CEP152c.2885A>C (p.Lys962Thr)
c.2606A>C (p.Lys869Thr)
c.926A>C (p.Lys309Thr)
c.920A>C (p.Lys307Thr)
n.3850A>C
n.3836A>C
15g.48756364T>ACA392343217CEP152c.2884A>T (p.Lys962Ter)
c.2605A>T (p.Lys869Ter)
c.925A>T (p.Lys309Ter)
c.919A>T (p.Lys307Ter)
n.3849A>T
n.3835A>T
15g.48756364T>CCA392343218CEP152c.2884A>G (p.Lys962Glu)
c.2605A>G (p.Lys869Glu)
c.925A>G (p.Lys309Glu)
c.919A>G (p.Lys307Glu)
n.3849A>G
n.3835A>G
15g.48756364T>GCA392343219CEP152c.2884A>C (p.Lys962Gln)
c.2605A>C (p.Lys869Gln)
c.925A>C (p.Lys309Gln)
c.919A>C (p.Lys307Gln)
n.3849A>C
n.3835A>C
 dbSNP gnomAD v3 gnomAD v4
15g.48756364T=CA2175629143CEP152c.2884A= (p.Lys962=)
c.2605A= (p.Lys869=)
c.925A= (p.Lys309=)
c.919A= (p.Lys307=)
n.3849A=
n.3835A=
15g.48756365G>ACA490311337CEP152c.2883C>T (p.Asn961=)
c.2604C>T (p.Asn868=)
c.924C>T (p.Asn308=)
c.918C>T (p.Asn306=)
n.3848C>T
n.3834C>T
15g.48756365G>CCA392343220CEP152c.2883C>G (p.Asn961Lys)
c.2604C>G (p.Asn868Lys)
c.924C>G (p.Asn308Lys)
c.918C>G (p.Asn306Lys)
n.3848C>G
n.3834C>G
15g.48756365G=CA2175629146CEP152c.2883C= (p.Asn961=)
c.2604C= (p.Asn868=)
c.924C= (p.Asn308=)
c.918C= (p.Asn306=)
n.3848C=
n.3834C=
15g.48756365G>TCA392343221CEP152c.2883C>A (p.Asn961Lys)
c.2604C>A (p.Asn868Lys)
c.924C>A (p.Asn308Lys)
c.918C>A (p.Asn306Lys)
n.3848C>A
n.3834C>A
 dbSNP gnomAD v3 gnomAD v4
15g.48756366T>ACA392343223CEP152c.2882A>T (p.Asn961Ile)
c.2603A>T (p.Asn868Ile)
c.923A>T (p.Asn308Ile)
c.917A>T (p.Asn306Ile)
n.3847A>T
n.3833A>T
15g.48756366T>CCA7548450CEP152c.2882A>G (p.Asn961Ser)
c.2603A>G (p.Asn868Ser)
c.923A>G (p.Asn308Ser)
c.917A>G (p.Asn306Ser)
n.3847A>G
n.3833A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756366T>GCA392343222CEP152c.2882A>C (p.Asn961Thr)
c.2603A>C (p.Asn868Thr)
c.923A>C (p.Asn308Thr)
c.917A>C (p.Asn306Thr)
n.3847A>C
n.3833A>C
15g.48756366T=CA2175629150CEP152c.2882A= (p.Asn961=)
c.2603A= (p.Asn868=)
c.923A= (p.Asn308=)
c.917A= (p.Asn306=)
n.3847A=
n.3833A=
15g.48756367T>ACA392343224CEP152c.2881A>T (p.Asn961Tyr)
c.2602A>T (p.Asn868Tyr)
c.922A>T (p.Asn308Tyr)
c.916A>T (p.Asn306Tyr)
n.3846A>T
n.3832A>T
15g.48756367T>CCA392343225CEP152c.2881A>G (p.Asn961Asp)
c.2602A>G (p.Asn868Asp)
c.922A>G (p.Asn308Asp)
c.916A>G (p.Asn306Asp)
n.3846A>G
n.3832A>G
15g.48756367T>GCA392343226CEP152c.2881A>C (p.Asn961His)
c.2602A>C (p.Asn868His)
c.922A>C (p.Asn308His)
c.916A>C (p.Asn306His)
n.3846A>C
n.3832A>C
15g.48756368C>ACA392343227CEP152c.2880G>T (p.Trp960Cys)
c.2601G>T (p.Trp867Cys)
c.921G>T (p.Trp307Cys)
c.915G>T (p.Trp305Cys)
n.3845G>T
n.3831G>T
15g.48756368C>GCA392343228CEP152c.2880G>C (p.Trp960Cys)
c.2601G>C (p.Trp867Cys)
c.921G>C (p.Trp307Cys)
c.915G>C (p.Trp305Cys)
n.3845G>C
n.3831G>C
15g.48756368C>TCA392343229CEP152c.2880G>A (p.Trp960Ter)
c.2601G>A (p.Trp867Ter)
c.921G>A (p.Trp307Ter)
c.915G>A (p.Trp305Ter)
n.3845G>A
n.3831G>A
 ClinVar gnomAD v4
15g.48756369C>ACA392343232CEP152c.2879G>T (p.Trp960Leu)
c.2600G>T (p.Trp867Leu)
c.920G>T (p.Trp307Leu)
c.914G>T (p.Trp305Leu)
n.3844G>T
n.3830G>T
15g.48756369C>GCA392343230CEP152c.2879G>C (p.Trp960Ser)
c.2600G>C (p.Trp867Ser)
c.920G>C (p.Trp307Ser)
c.914G>C (p.Trp305Ser)
n.3844G>C
n.3830G>C
15g.48756369C>TCA392343231CEP152c.2879G>A (p.Trp960Ter)
c.2600G>A (p.Trp867Ter)
c.920G>A (p.Trp307Ter)
c.914G>A (p.Trp305Ter)
n.3844G>A
n.3830G>A
 gnomAD v4
15g.48756370A=CA2175629154CEP152c.2878T= (p.Trp960=)
c.2599T= (p.Trp867=)
c.919T= (p.Trp307=)
c.913T= (p.Trp305=)
n.3843T=
n.3829T=
15g.48756370A>CCA392343233CEP152c.2878T>G (p.Trp960Gly)
c.2599T>G (p.Trp867Gly)
c.919T>G (p.Trp307Gly)
c.913T>G (p.Trp305Gly)
n.3843T>G
n.3829T>G
15g.48756370A>GCA211044CEP152c.2878T>C (p.Trp960Arg)
c.2599T>C (p.Trp867Arg)
c.919T>C (p.Trp307Arg)
c.913T>C (p.Trp305Arg)
n.3843T>C
n.3829T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756370A>TCA392343234CEP152c.2878T>A (p.Trp960Arg)
c.2599T>A (p.Trp867Arg)
c.919T>A (p.Trp307Arg)
c.913T>A (p.Trp305Arg)
n.3843T>A
n.3829T>A
15g.48756371T>ACA392343235CEP152c.2877A>T (p.Glu959Asp)
c.2598A>T (p.Glu866Asp)
c.918A>T (p.Glu306Asp)
c.912A>T (p.Glu304Asp)
n.3842A>T
n.3828A>T
15g.48756371T>CCA490311338CEP152c.2877A>G (p.Glu959=)
c.2598A>G (p.Glu866=)
c.918A>G (p.Glu306=)
c.912A>G (p.Glu304=)
n.3842A>G
n.3828A>G
15g.48756371T>GCA392343236CEP152c.2877A>C (p.Glu959Asp)
c.2598A>C (p.Glu866Asp)
c.918A>C (p.Glu306Asp)
c.912A>C (p.Glu304Asp)
n.3842A>C
n.3828A>C
15g.48756372T>ACA392343237CEP152c.2876A>T (p.Glu959Val)
c.2597A>T (p.Glu866Val)
c.917A>T (p.Glu306Val)
c.911A>T (p.Glu304Val)
n.3841A>T
n.3827A>T
 dbSNP gnomAD v2 gnomAD v4
15g.48756372T>CCA392343238CEP152c.2876A>G (p.Glu959Gly)
c.2597A>G (p.Glu866Gly)
c.917A>G (p.Glu306Gly)
c.911A>G (p.Glu304Gly)
n.3841A>G
n.3827A>G
15g.48756372T>GCA392343239CEP152c.2876A>C (p.Glu959Ala)
c.2597A>C (p.Glu866Ala)
c.917A>C (p.Glu306Ala)
c.911A>C (p.Glu304Ala)
n.3841A>C
n.3827A>C
15g.48756372T=CA2175629158CEP152c.2876A= (p.Glu959=)
c.2597A= (p.Glu866=)
c.917A= (p.Glu306=)
c.911A= (p.Glu304=)
n.3841A=
n.3827A=
15g.48756373C>ACA392343240CEP152c.2875G>T (p.Glu959Ter)
c.2596G>T (p.Glu866Ter)
c.916G>T (p.Glu306Ter)
c.910G>T (p.Glu304Ter)
n.3840G>T
n.3826G>T
15g.48756373C>GCA392343241CEP152c.2875G>C (p.Glu959Gln)
c.2596G>C (p.Glu866Gln)
c.916G>C (p.Glu306Gln)
c.910G>C (p.Glu304Gln)
n.3840G>C
n.3826G>C
15g.48756373C>TCA392343242CEP152c.2875G>A (p.Glu959Lys)
c.2596G>A (p.Glu866Lys)
c.916G>A (p.Glu306Lys)
c.910G>A (p.Glu304Lys)
n.3840G>A
n.3826G>A
15g.48756374A=CA2175629161CEP152c.2874T= (p.Ser958=)
c.2595T= (p.Ser865=)
c.915T= (p.Ser305=)
c.909T= (p.Ser303=)
n.3839T=
n.3825T=
15g.48756374A>CCA392343243CEP152c.2874T>G (p.Ser958Arg)
c.2595T>G (p.Ser865Arg)
c.915T>G (p.Ser305Arg)
c.909T>G (p.Ser303Arg)
n.3839T>G
n.3825T>G
15g.48756374A>GCA490311339CEP152c.2874T>C (p.Ser958=)
c.2595T>C (p.Ser865=)
c.915T>C (p.Ser305=)
c.909T>C (p.Ser303=)
n.3839T>C
n.3825T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48756374A>TCA392343244CEP152c.2874T>A (p.Ser958Arg)
c.2595T>A (p.Ser865Arg)
c.915T>A (p.Ser305Arg)
c.909T>A (p.Ser303Arg)
n.3839T>A
n.3825T>A
15g.48756375C>ACA392343245CEP152c.2873G>T (p.Ser958Ile)
c.2594G>T (p.Ser865Ile)
c.914G>T (p.Ser305Ile)
c.908G>T (p.Ser303Ile)
n.3838G>T
n.3824G>T
15g.48756375C>GCA392343247CEP152c.2873G>C (p.Ser958Thr)
c.2594G>C (p.Ser865Thr)
c.914G>C (p.Ser305Thr)
c.908G>C (p.Ser303Thr)
n.3838G>C
n.3824G>C
15g.48756375C>TCA392343246CEP152c.2873G>A (p.Ser958Asn)
c.2594G>A (p.Ser865Asn)
c.914G>A (p.Ser305Asn)
c.908G>A (p.Ser303Asn)
n.3838G>A
n.3824G>A
15g.48756376T>ACA392343248CEP152c.2872A>T (p.Ser958Cys)
c.2593A>T (p.Ser865Cys)
c.913A>T (p.Ser305Cys)
c.907A>T (p.Ser303Cys)
n.3837A>T
n.3823A>T
15g.48756376T>CCA392343249CEP152c.2872A>G (p.Ser958Gly)
c.2593A>G (p.Ser865Gly)
c.913A>G (p.Ser305Gly)
c.907A>G (p.Ser303Gly)
n.3837A>G
n.3823A>G
15g.48756376T>GCA392343250CEP152c.2872A>C (p.Ser958Arg)
c.2593A>C (p.Ser865Arg)
c.913A>C (p.Ser305Arg)
c.907A>C (p.Ser303Arg)
n.3837A>C
n.3823A>C
 gnomAD v4
15g.48756377C>ACA490311341CEP152c.2871G>T (p.Arg957=)
c.2592G>T (p.Arg864=)
c.912G>T (p.Arg304=)
c.906G>T (p.Arg302=)
n.3836G>T
n.3822G>T
15g.48756377C=CA2175629165CEP152c.2871G= (p.Arg957=)
c.2592G= (p.Arg864=)
c.912G= (p.Arg304=)
c.906G= (p.Arg302=)
n.3836G=
n.3822G=
15g.48756377C>GCA490311340CEP152c.2871G>C (p.Arg957=)
c.2592G>C (p.Arg864=)
c.912G>C (p.Arg304=)
c.906G>C (p.Arg302=)
n.3836G>C
n.3822G>C
 COSMIC COSMIC
15g.48756377C>TCA7548451CEP152c.2871G>A (p.Arg957=)
c.2592G>A (p.Arg864=)
c.912G>A (p.Arg304=)
c.906G>A (p.Arg302=)
n.3836G>A
n.3822G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756378C>ACA392343251CEP152c.2870G>T (p.Arg957Leu)
c.2591G>T (p.Arg864Leu)
c.911G>T (p.Arg304Leu)
c.905G>T (p.Arg302Leu)
n.3835G>T
n.3821G>T
15g.48756378C=CA2175629168CEP152c.2870G= (p.Arg957=)
c.2591G= (p.Arg864=)
c.911G= (p.Arg304=)
c.905G= (p.Arg302=)
n.3835G=
n.3821G=
15g.48756378C>GCA392343252CEP152c.2870G>C (p.Arg957Pro)
c.2591G>C (p.Arg864Pro)
c.911G>C (p.Arg304Pro)
c.905G>C (p.Arg302Pro)
n.3835G>C
n.3821G>C
15g.48756378C>TCA7548452CEP152c.2870G>A (p.Arg957Gln)
c.2591G>A (p.Arg864Gln)
c.911G>A (p.Arg304Gln)
c.905G>A (p.Arg302Gln)
n.3835G>A
n.3821G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756379G>ACA7548453CEP152c.2869C>T (p.Arg957Trp)
c.2590C>T (p.Arg864Trp)
c.910C>T (p.Arg304Trp)
c.904C>T (p.Arg302Trp)
n.3834C>T
n.3820C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756379G>CCA7548454CEP152c.2869C>G (p.Arg957Gly)
c.2590C>G (p.Arg864Gly)
c.910C>G (p.Arg304Gly)
c.904C>G (p.Arg302Gly)
n.3834C>G
n.3820C>G
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
15g.48756379G=CA2175629172CEP152c.2869C= (p.Arg957=)
c.2590C= (p.Arg864=)
c.910C= (p.Arg304=)
c.904C= (p.Arg302=)
n.3834C=
n.3820C=
15g.48756379G>TCA490311342CEP152c.2869C>A (p.Arg957=)
c.2590C>A (p.Arg864=)
c.910C>A (p.Arg304=)
c.904C>A (p.Arg302=)
n.3834C>A
n.3820C>A
15g.48756380A>CCA490311343CEP152c.2868T>G (p.Ala956=)
c.2589T>G (p.Ala863=)
c.909T>G (p.Ala303=)
c.903T>G (p.Ala301=)
n.3833T>G
n.3819T>G
15g.48756380A>GCA490311345CEP152c.2868T>C (p.Ala956=)
c.2589T>C (p.Ala863=)
c.909T>C (p.Ala303=)
c.903T>C (p.Ala301=)
n.3833T>C
n.3819T>C
15g.48756380A>TCA490311344CEP152c.2868T>A (p.Ala956=)
c.2589T>A (p.Ala863=)
c.909T>A (p.Ala303=)
c.903T>A (p.Ala301=)
n.3833T>A
n.3819T>A
15g.48756381G>ACA7548455CEP152c.2867C>T (p.Ala956Val)
c.2588C>T (p.Ala863Val)
c.908C>T (p.Ala303Val)
c.902C>T (p.Ala301Val)
n.3832C>T
n.3818C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756381G>CCA392343253CEP152c.2867C>G (p.Ala956Gly)
c.2588C>G (p.Ala863Gly)
c.908C>G (p.Ala303Gly)
c.902C>G (p.Ala301Gly)
n.3832C>G
n.3818C>G
15g.48756381G=CA2175629179CEP152c.2867C= (p.Ala956=)
c.2588C= (p.Ala863=)
c.908C= (p.Ala303=)
c.902C= (p.Ala301=)
n.3832C=
n.3818C=
15g.48756381G>TCA392343254CEP152c.2867C>A (p.Ala956Asp)
c.2588C>A (p.Ala863Asp)
c.908C>A (p.Ala303Asp)
c.902C>A (p.Ala301Asp)
n.3832C>A
n.3818C>A
15g.48756382C>ACA7548456CEP152c.2866G>T (p.Ala956Ser)
c.2587G>T (p.Ala863Ser)
c.907G>T (p.Ala303Ser)
c.901G>T (p.Ala301Ser)
n.3831G>T
n.3817G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756382C=CA2175629184CEP152c.2866G= (p.Ala956=)
c.2587G= (p.Ala863=)
c.907G= (p.Ala303=)
c.901G= (p.Ala301=)
n.3831G=
n.3817G=
15g.48756382C>GCA392343256CEP152c.2866G>C (p.Ala956Pro)
c.2587G>C (p.Ala863Pro)
c.907G>C (p.Ala303Pro)
c.901G>C (p.Ala301Pro)
n.3831G>C
n.3817G>C
15g.48756382C>TCA392343255CEP152c.2866G>A (p.Ala956Thr)
c.2587G>A (p.Ala863Thr)
c.907G>A (p.Ala303Thr)
c.901G>A (p.Ala301Thr)
n.3831G>A
n.3817G>A
15g.48756383C>ACA392343257CEP152c.2865G>T (p.Lys955Asn)
c.2586G>T (p.Lys862Asn)
c.906G>T (p.Lys302Asn)
c.900G>T (p.Lys300Asn)
n.3830G>T
n.3816G>T
15g.48756383C>GCA392343258CEP152c.2865G>C (p.Lys955Asn)
c.2586G>C (p.Lys862Asn)
c.906G>C (p.Lys302Asn)
c.900G>C (p.Lys300Asn)
n.3830G>C
n.3816G>C
15g.48756383C>TCA490311346CEP152c.2865G>A (p.Lys955=)
c.2586G>A (p.Lys862=)
c.906G>A (p.Lys302=)
c.900G>A (p.Lys300=)
n.3830G>A
n.3816G>A
15g.48756384T>ACA7548457CEP152c.2864A>T (p.Lys955Met)
c.2585A>T (p.Lys862Met)
c.905A>T (p.Lys302Met)
c.899A>T (p.Lys300Met)
n.3829A>T
n.3815A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756384T>CCA392343259CEP152c.2864A>G (p.Lys955Arg)
c.2585A>G (p.Lys862Arg)
c.905A>G (p.Lys302Arg)
c.899A>G (p.Lys300Arg)
n.3829A>G
n.3815A>G
15g.48756384T>GCA269538144CEP152c.2864A>C (p.Lys955Thr)
c.2585A>C (p.Lys862Thr)
c.905A>C (p.Lys302Thr)
c.899A>C (p.Lys300Thr)
n.3829A>C
n.3815A>C
 dbSNP gnomAD v4
15g.48756384T=CA2175629188CEP152c.2864A= (p.Lys955=)
c.2585A= (p.Lys862=)
c.905A= (p.Lys302=)
c.899A= (p.Lys300=)
n.3829A=
n.3815A=
15g.48756385T>ACA392343260CEP152c.2863A>T (p.Lys955Ter)
c.2584A>T (p.Lys862Ter)
c.904A>T (p.Lys302Ter)
c.898A>T (p.Lys300Ter)
n.3828A>T
n.3814A>T
15g.48756385T>CCA392343261CEP152c.2863A>G (p.Lys955Glu)
c.2584A>G (p.Lys862Glu)
c.904A>G (p.Lys302Glu)
c.898A>G (p.Lys300Glu)
n.3828A>G
n.3814A>G
15g.48756385T>GCA392343262CEP152c.2863A>C (p.Lys955Gln)
c.2584A>C (p.Lys862Gln)
c.904A>C (p.Lys302Gln)
c.898A>C (p.Lys300Gln)
n.3828A>C
n.3814A>C
 dbSNP gnomAD v3 gnomAD v4
15g.48756385T=CA2175629194CEP152c.2863A= (p.Lys955=)
c.2584A= (p.Lys862=)
c.904A= (p.Lys302=)
c.898A= (p.Lys300=)
n.3828A=
n.3814A=
15g.48756385_48756388delinsTAGCCA2175629196CEP152c.2860_2863delinsGCTA (p.Ala954=)
c.2581_2584delinsGCTA (p.Ala861=)
c.901_904delinsGCTA (p.Ala301=)
c.895_898delinsGCTA (p.Ala299=)
n.3825_3828delinsGCTA
n.3811_3814delinsGCTA
15g.48756386A>CCA490311347CEP152c.2862T>G (p.Ala954=)
c.2583T>G (p.Ala861=)
c.903T>G (p.Ala301=)
c.897T>G (p.Ala299=)
n.3827T>G
n.3813T>G
15g.48756386A>GCA490311348CEP152c.2862T>C (p.Ala954=)
c.2583T>C (p.Ala861=)
c.903T>C (p.Ala301=)
c.897T>C (p.Ala299=)
n.3827T>C
n.3813T>C
 ClinVar
15g.48756386A>TCA490311349CEP152c.2862T>A (p.Ala954=)
c.2583T>A (p.Ala861=)
c.903T>A (p.Ala301=)
c.897T>A (p.Ala299=)
n.3827T>A
n.3813T>A
15g.48756386_48756388delCA7548458CEP152c.2860_2862del (p.Ala954del)
c.2581_2583del (p.Ala861del)
c.901_903del (p.Ala301del)
c.895_897del (p.Ala299del)
n.3825_3827del
n.3811_3813del
 dbSNP ExAC gnomAD v2
15g.48756387G>ACA392343263CEP152c.2861C>T (p.Ala954Val)
c.2582C>T (p.Ala861Val)
c.902C>T (p.Ala301Val)
c.896C>T (p.Ala299Val)
n.3826C>T
n.3812C>T
15g.48756387G>CCA392343264CEP152c.2861C>G (p.Ala954Gly)
c.2582C>G (p.Ala861Gly)
c.902C>G (p.Ala301Gly)
c.896C>G (p.Ala299Gly)
n.3826C>G
n.3812C>G
15g.48756387G>TCA392343265CEP152c.2861C>A (p.Ala954Asp)
c.2582C>A (p.Ala861Asp)
c.902C>A (p.Ala301Asp)
c.896C>A (p.Ala299Asp)
n.3826C>A
n.3812C>A

Number of alleles fetched