Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.182838598A>CCA349750881FRZBc.608T>G (p.Val203Gly)
2g.182838598A>GCA349750883FRZBc.608T>C (p.Val203Ala)
2g.182838598A>TCA349750882FRZBc.608T>A (p.Val203Asp)
2g.182838599C>ACA349750884FRZBc.607G>T (p.Val203Phe)
2g.182838599C>GCA349750885FRZBc.607G>C (p.Val203Leu)
2g.182838599C>TCA349750886FRZBc.607G>A (p.Val203Ile)
2g.182838600T>ACA349750887FRZBc.606A>T (p.Lys202Asn)
gnomAD v4
2g.182838600T>CCA430432221FRZBc.606A>G (p.Lys202=)
2g.182838600T>GCA349750888FRZBc.606A>C (p.Lys202Asn)
2g.182838601T>ACA349750889FRZBc.605A>T (p.Lys202Ile)
2g.182838601T>CCA349750890FRZBc.605A>G (p.Lys202Arg)
2g.182838601T>GCA349750891FRZBc.605A>C (p.Lys202Thr)
gnomAD v4
2g.182838602T>ACA349750892FRZBc.604A>T (p.Lys202Ter)
2g.182838602T>CCA349750893FRZBc.604A>G (p.Lys202Glu)
gnomAD v4
2g.182838602T>GCA349750894FRZBc.604A>C (p.Lys202Gln)
2g.182838603A>CCA430432230FRZBc.603T>G (p.Ala201=)
2g.182838603A>GCA430432233FRZBc.603T>C (p.Ala201=)
2g.182838603A>TCA430432235FRZBc.603T>A (p.Ala201=)
2g.182838604G>ACA349750896FRZBc.602C>T (p.Ala201Val)
2g.182838604G>CCA349750897FRZBc.602C>G (p.Ala201Gly)
2g.182838604G>TCA349750895FRZBc.602C>A (p.Ala201Asp)
gnomAD v4
2g.182838605C>ACA349750898FRZBc.601G>T (p.Ala201Ser)
dbSNP gnomAD v2 gnomAD v4
2g.182838605C=CA1312515919FRZBc.601G= (p.Ala201=)
2g.182838605C>GCA349750899FRZBc.601G>C (p.Ala201Pro)
2g.182838605C>TCA349750900FRZBc.601G>A (p.Ala201Thr)
2g.182838606C>ACA430432247FRZBc.600G>T (p.Arg200=)
2g.182838606C=CA1312515920FRZBc.600G= (p.Arg200=)
2g.182838606C>GCA430432245FRZBc.600G>C (p.Arg200=)
2g.182838606C>TCA430432242FRZBc.600G>A (p.Arg200=)
dbSNP
2g.182838607C>ACA349750901FRZBc.599G>T (p.Arg200Leu)
gnomAD v4 COSMIC
2g.182838607C=CA1312515921FRZBc.599G= (p.Arg200=)
2g.182838607C>GCA349750902FRZBc.599G>C (p.Arg200Pro)
2g.182838607C>TCA2013970FRZBc.599G>A (p.Arg200Gln)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.182838607_182838608insAGTCATTTGGGCTAAACA2662236422FRZBc.598_599insTTTAGCCCAAATGACT (p.Arg200LeufsTer2)
gnomAD v4
2g.182838608G>ACA117344FRZBc.598C>T (p.Arg200Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.182838608G>CCA349750903FRZBc.598C>G (p.Arg200Gly)
2g.182838608G=CA1312515922FRZBc.598C= (p.Arg200=)
2g.182838608G>TCA430432255FRZBc.598C>A (p.Arg200=)
2g.182838609A>CCA349750904FRZBc.597T>G (p.Ile199Met)
gnomAD v4
2g.182838609A>GCA430432256FRZBc.597T>C (p.Ile199=)
2g.182838609A>TCA430432257FRZBc.597T>A (p.Ile199=)
2g.182838610A>CCA349750905FRZBc.596T>G (p.Ile199Ser)
2g.182838610A>GCA349750906FRZBc.596T>C (p.Ile199Thr)
2g.182838610A>TCA349750907FRZBc.596T>A (p.Ile199Asn)
2g.182838611T>ACA349750909FRZBc.595A>T (p.Ile199Phe)
2g.182838611T>CCA349750910FRZBc.595A>G (p.Ile199Val)
COSMIC
2g.182838611T>GCA349750908FRZBc.595A>C (p.Ile199Leu)
2g.182838612G>ACA430432276FRZBc.594C>T (p.Val198=)
gnomAD v4
2g.182838612G>CCA430432278FRZBc.594C>G (p.Val198=)
dbSNP
2g.182838612G=CA1312515923FRZBc.594C= (p.Val198=)
2g.182838612G>TCA430432277FRZBc.594C>A (p.Val198=)
dbSNP gnomAD v2 gnomAD v4
2g.182838613A=CA1312515924FRZBc.593T= (p.Val198=)
2g.182838613A>CCA349750911FRZBc.593T>G (p.Val198Gly)
2g.182838613A>GCA2013971FRZBc.593T>C (p.Val198Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.182838613A>TCA349750912FRZBc.593T>A (p.Val198Asp)
2g.182838614C>ACA349750913FRZBc.593-1G>T (n.593-1G>T)
COSMIC
2g.182838614C>GCA349750914FRZBc.593-1G>C (n.593-1G>C)
2g.182838614C>TCA349750915FRZBc.593-1G>A (n.593-1G>A)
2g.182838615T>ACA349750918FRZBc.593-2A>T (n.593-2A>T)
gnomAD v4
2g.182838615T>CCA349750916FRZBc.593-2A>G (n.593-2A>G)
gnomAD v4
2g.182838615T>GCA349750917FRZBc.593-2A>C (n.593-2A>C)
2g.182838616G>ACA2013972FRZBc.593-3C>T (n.593-3C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.182838616G=CA1312515925FRZBc.593-3C= (n.593-3C=)
2g.182838616G>TCA2662236423FRZBc.593-3C>A (n.593-3C>A)
gnomAD v4
2g.182838617G>CCA2013973FRZBc.593-4C>G (n.593-4C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.182838617G=CA1312515926FRZBc.593-4C= (n.593-4C=)
2g.182838618G>ACA645527361FRZBc.593-5C>T (n.593-5C>T)
COSMIC
2g.182838619A=CA1312515927FRZBc.593-6T= (n.593-6T=)
2g.182838619A>TCA538439244FRZBc.593-6T>A (n.593-6T>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.182838620T>CCA2577180416FRZBc.593-7A>G (n.593-7A>G)
gnomAD v4
2g.182838624delCA2577180417FRZBc.593-8del (n.593-8del)
2g.182838626A=CA1312515928FRZBc.593-13T= (n.593-13T=)
2g.182838626A>GCA1312515929FRZBc.593-13T>C (n.593-13T>C)
dbSNP
2g.182838627C=CA1312515930FRZBc.593-14G= (n.593-14G=)
2g.182838627C>TCA1312515931FRZBc.593-14G>A (n.593-14G>A)
dbSNP
2g.182838628A=CA1312515932FRZBc.593-15T= (n.593-15T=)
2g.182838628A>GCA761677885FRZBc.593-15T>C (n.593-15T>C)
dbSNP
2g.182838628A>TCA2551446396FRZBc.593-15T>A (n.593-15T>A)
2g.182838630G>ACA538439245FRZBc.593-17C>T (n.593-17C>T)
dbSNP gnomAD v2 gnomAD v4
2g.182838630G=CA1312515933FRZBc.593-17C= (n.593-17C=)
2g.182838631A>CCA2662236424FRZBc.593-18T>G (n.593-18T>G)
gnomAD v4
2g.182838634A>GCA2662236425FRZBc.593-21T>C (n.593-21T>C)
gnomAD v4
2g.182838635G>CCA2552867882FRZBc.593-22C>G (n.593-22C>G)
2g.182838635G>TCA2662236426FRZBc.593-22C>A (n.593-22C>A)
gnomAD v4
2g.182838636C>TCA2662236427FRZBc.593-23G>A (n.593-23G>A)
gnomAD v4
2g.182838638G>ACA1312515935FRZBc.593-25C>T (n.593-25C>T)
dbSNP
2g.182838638G=CA1312515934FRZBc.593-25C= (n.593-25C=)
2g.182838639A=CA1312515936FRZBc.593-26T= (n.593-26T=)
2g.182838639A>CCA761677891FRZBc.593-26T>G (n.593-26T>G)
dbSNP
2g.182838639A>GCA2013974FRZBc.593-26T>C (n.593-26T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.182838640T>CCA2013975FRZBc.593-27A>G (n.593-27A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.182838640T=CA1312515937FRZBc.593-27A= (n.593-27A=)
2g.182838643T>CCA761677894FRZBc.593-30A>G (n.593-30A>G)
dbSNP gnomAD v3 gnomAD v4
2g.182838643T=CA1312515939FRZBc.593-30A= (n.593-30A=)
2g.182838643_182838644delinsTACA1312515938FRZBc.593-31_593-30delinsTA (n.593-31_593-30delinsTA)
2g.182838644A=CA1312515940FRZBc.593-31T= (n.593-31T=)
2g.182838644A>CCA761677902FRZBc.593-31T>G (n.593-31T>G)
dbSNP gnomAD v3 gnomAD v4
2g.182838644A>GCA761677900FRZBc.593-31T>C (n.593-31T>C)
dbSNP
2g.182838645delCA2013976FRZBc.593-31del (n.593-31del)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.182838645A>GCA2662236428FRZBc.593-32T>C (n.593-32T>C)
gnomAD v4
2g.182838646T>CCA2013977FRZBc.593-33A>G (n.593-33A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.182838646T=CA1312515941FRZBc.593-33A= (n.593-33A=)
2g.182838647A=CA1312515942FRZBc.593-34T= (n.593-34T=)
2g.182838647A>GCA1039985347FRZBc.593-34T>C (n.593-34T>C)
dbSNP gnomAD v3 gnomAD v4
2g.182838648T>CCA2662236429FRZBc.593-35A>G (n.593-35A>G)
gnomAD v4
2g.182838649G>TCA2662236430FRZBc.593-36C>A (n.593-36C>A)
gnomAD v4
2g.182838651C>TCA2662236431FRZBc.593-38G>A (n.593-38G>A)
gnomAD v4
2g.182838652_182838666delinsACATAATAGCTACCCCA1312515943FRZBc.593-53_593-39delinsGGGTAGCTATTATGT (n.593-53_593-39delinsGGGTAGCTATTATGT)
2g.182838653C>TCA2555964848FRZBc.593-40G>A (n.593-40G>A)
2g.182838656_182838669delCA2013978FRZBc.593-53_593-40del (n.593-53_593-40del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.182838654A=CA1312515944FRZBc.593-41T= (n.593-41T=)
2g.182838654A>GCA538439246FRZBc.593-41T>C (n.593-41T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.182838655T>ACA2577180418FRZBc.593-42A>T (n.593-42A>T)
2g.182838655T>CCA1312515946FRZBc.593-42A>G (n.593-42A>G)
dbSNP gnomAD v4
2g.182838655T=CA1312515945FRZBc.593-42A= (n.593-42A=)
2g.182838657A>GCA2662236432FRZBc.593-44T>C (n.593-44T>C)
gnomAD v4
2g.182838658T>ACA2662236433FRZBc.593-45A>T (n.593-45A>T)
gnomAD v4
2g.182838660G>CCA61657734FRZBc.593-47C>G (n.593-47C>G)
dbSNP gnomAD v3 gnomAD v4
2g.182838660G=CA1312515947FRZBc.593-47C= (n.593-47C=)
2g.182838661_182838671delCA2662236434FRZBc.593-58_593-48del (n.593-58_593-48del)
gnomAD v4
2g.182838662T>ACA2662236435FRZBc.593-49A>T (n.593-49A>T)
gnomAD v4
2g.182838662T>GCA2606829181FRZBc.593-49A>C (n.593-49A>C)
gnomAD v3 gnomAD v4
2g.182838663A=CA1312515949FRZBc.593-50T= (n.593-50T=)
2g.182838663A>GCA538123207FRZBc.593-50T>C (n.593-50T>C)
dbSNP gnomAD v2 gnomAD v4
2g.182838663_182838665delinsACCCA1312515948FRZBc.593-52_593-50delinsGGT (n.593-52_593-50delinsGGT)
2g.182838664C=CA1312515950FRZBc.593-51G= (n.593-51G=)
2g.182838664C>TCA1039985353FRZBc.593-51G>A (n.593-51G>A)
dbSNP gnomAD v3 gnomAD v4
2g.182838667delCA2662236436FRZBc.593-51del (n.593-51del)
gnomAD v4
2g.182838666_182838667delCA761677910FRZBc.593-52_593-51del (n.593-52_593-51del)
dbSNP
2g.182838664_182838671delCA2662236437FRZBc.593-58_593-51del (n.593-58_593-51del)
gnomAD v4
2g.182838664_182838665insTTTGCTTATCA2662236438FRZBc.593-52_593-51insATAAGCAAA (n.593-52_593-51insATAAGCAAA)
gnomAD v4
2g.182838665C>ACA538123208FRZBc.593-52G>T (n.593-52G>T)
dbSNP gnomAD v2 gnomAD v4
2g.182838665C=CA1312515951FRZBc.593-52G= (n.593-52G=)
2g.182838666C>TCA2662236439FRZBc.593-53G>A (n.593-53G>A)
gnomAD v4
2g.182838667C>ACA2662236440FRZBc.593-54G>T (n.593-54G>T)
gnomAD v4
2g.182838667C=CA1312515952FRZBc.593-54G= (n.593-54G=)
2g.182838667C>TCA1039985356FRZBc.593-54G>A (n.593-54G>A)
dbSNP gnomAD v3 gnomAD v4
2g.182838669T>ACA2662236441FRZBc.593-56A>T (n.593-56A>T)
gnomAD v4
2g.182838669T>CCA61657741FRZBc.593-56A>G (n.593-56A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.182838669T=CA1312515953FRZBc.593-56A= (n.593-56A=)
2g.182838670T>ACA2662236442FRZBc.593-57A>T (n.593-57A>T)
gnomAD v4
2g.182838671C>ACA2662236443FRZBc.593-58G>T (n.593-58G>T)
gnomAD v4
2g.182838672A>GCA2662236446FRZBc.593-59T>C (n.593-59T>C)
gnomAD v4
2g.182838678_182838679insAAAAAAAACA2753437692FRZBc.593-59_593-58insTTTTTTTT (n.593-59_593-58insTTTTTTTT)
2g.182838678dupCA2662236444FRZBc.593-59dup (n.593-59dup)
gnomAD v4
2g.182838678delCA2662236445FRZBc.593-59del (n.593-59del)
gnomAD v4
2g.182838673A>GCA2662236447FRZBc.593-60T>C (n.593-60T>C)
gnomAD v4
2g.182838673A>TCA2662236448FRZBc.593-60T>A (n.593-60T>A)
gnomAD v4
2g.182838678A>GCA2662236449FRZBc.593-65T>C (n.593-65T>C)
gnomAD v4
2g.182838679G>CCA2753437693FRZBc.593-66C>G (n.593-66C>G)
2g.182838679G=CA1312515954FRZBc.593-66C= (n.593-66C=)
2g.182838679G>TCA61657743FRZBc.593-66C>A (n.593-66C>A)
dbSNP gnomAD v3 gnomAD v4
2g.182838681C>ACA2662236450FRZBc.593-68G>T (n.593-68G>T)
gnomAD v4
2g.182838684delCA2662236451FRZBc.593-69del (n.593-69del)
gnomAD v4
2g.182838682_182838685delCA2662236452FRZBc.593-72_593-69del (n.593-72_593-69del)
gnomAD v4
2g.182838683A=CA1312515955FRZBc.593-70T= (n.593-70T=)
2g.182838683A>TCA538123209FRZBc.593-70T>A (n.593-70T>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.182838685G>CCA1312515957FRZBc.593-72C>G (n.593-72C>G)
dbSNP gnomAD v4
2g.182838685G=CA1312515956FRZBc.593-72C= (n.593-72C=)
2g.182838685G>TCA2662236453FRZBc.593-72C>A (n.593-72C>A)
gnomAD v4
2g.182838686T>ACA2662236454FRZBc.593-73A>T (n.593-73A>T)
gnomAD v4
2g.182838687_182838688insCTTTCA2662236455FRZBc.593-75_593-74insAAAG (n.593-75_593-74insAAAG)
gnomAD v4
2g.182838688G>ACA349734440FRZBc.593-75C>T (n.593-75C>T)
dbSNP gnomAD v4
2g.182838688G=CA1312515958FRZBc.593-75C= (n.593-75C=)
2g.182838688G>TCA761677913FRZBc.593-75C>A (n.593-75C>A)
dbSNP gnomAD v3 gnomAD v4
2g.182838689G>ACA2662236456FRZBc.593-76C>T (n.593-76C>T)
gnomAD v4
2g.182838689G=CA1312515959FRZBc.593-76C= (n.593-76C=)
2g.182838689G>TCA61657747FRZBc.593-76C>A (n.593-76C>A)
dbSNP gnomAD v3 gnomAD v4
2g.182838690C>ACA2662236457FRZBc.593-77G>T (n.593-77G>T)
gnomAD v4
2g.182838690C>GCA2662236458FRZBc.593-77G>C (n.593-77G>C)
gnomAD v4
2g.182838693C>TCA2662236459FRZBc.593-80G>A (n.593-80G>A)
gnomAD v4
2g.182838694T>CCA1039985358FRZBc.593-81A>G (n.593-81A>G)
dbSNP gnomAD v3 gnomAD v4
2g.182838694T=CA1312515960FRZBc.593-81A= (n.593-81A=)
2g.182838694_182838695delinsTCCA1312515961FRZBc.593-82_593-81delinsGA (n.593-82_593-81delinsGA)
2g.182838695delCA1312515962FRZBc.593-82del (n.593-82del)
dbSNP
2g.182838695C>ACA2662236460FRZBc.593-82G>T (n.593-82G>T)
gnomAD v4
2g.182838695C>TCA2662236461FRZBc.593-82G>A (n.593-82G>A)
gnomAD v4
2g.182838698T>CCA61657749FRZBc.593-85A>G (n.593-85A>G)
dbSNP gnomAD v3 gnomAD v4
2g.182838698T=CA1312515963FRZBc.593-85A= (n.593-85A=)

Number of alleles fetched