Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.99594671T>ACA1480076853MTTPc.759-62T>A (n.759-62T>A)
c.510-62T>A (n.510-62T>A)
c.840-62T>A (n.840-62T>A)
 dbSNP
4g.99594671T=CA1480076852MTTPc.759-62T= (n.759-62T=)
c.510-62T= (n.510-62T=)
c.840-62T= (n.840-62T=)
4g.99594673A>TCA2578152288MTTPc.759-60A>T (n.759-60A>T)
c.510-60A>T (n.510-60A>T)
c.840-60A>T (n.840-60A>T)
 gnomAD v4
4g.99594674G>ACA800752285MTTPc.759-59G>A (n.759-59G>A)
c.510-59G>A (n.510-59G>A)
c.840-59G>A (n.840-59G>A)
 dbSNP gnomAD v3 gnomAD v4
4g.99594674G>CCA1480076855MTTPc.759-59G>C (n.759-59G>C)
c.510-59G>C (n.510-59G>C)
c.840-59G>C (n.840-59G>C)
 dbSNP gnomAD v4
4g.99594674G=CA1480076854MTTPc.759-59G= (n.759-59G=)
c.510-59G= (n.510-59G=)
c.840-59G= (n.840-59G=)
4g.99594676A=CA1480076856MTTPc.759-57A= (n.759-57A=)
c.510-57A= (n.510-57A=)
c.840-57A= (n.840-57A=)
4g.99594676A>GCA2671533773MTTPc.759-57A>G (n.759-57A>G)
c.510-57A>G (n.510-57A>G)
c.840-57A>G (n.840-57A>G)
 gnomAD v4
4g.99594676A>TCA800752286MTTPc.759-57A>T (n.759-57A>T)
c.510-57A>T (n.510-57A>T)
c.840-57A>T (n.840-57A>T)
 dbSNP gnomAD v4
4g.99594677T>CCA2671533774MTTPc.759-56T>C (n.759-56T>C)
c.510-56T>C (n.510-56T>C)
c.840-56T>C (n.840-56T>C)
 gnomAD v4
4g.99594679T>CCA2671533775MTTPc.759-54T>C (n.759-54T>C)
c.510-54T>C (n.510-54T>C)
c.840-54T>C (n.840-54T>C)
 gnomAD v4
4g.99594680T>GCA1065944145MTTPc.759-53T>G (n.759-53T>G)
c.510-53T>G (n.510-53T>G)
c.840-53T>G (n.840-53T>G)
 dbSNP gnomAD v3 gnomAD v4
4g.99594680T=CA1480076857MTTPc.759-53T= (n.759-53T=)
c.510-53T= (n.510-53T=)
c.840-53T= (n.840-53T=)
4g.99594681G>CCA553125062MTTPc.759-52G>C (n.759-52G>C)
c.510-52G>C (n.510-52G>C)
c.840-52G>C (n.840-52G>C)
 dbSNP gnomAD v2
4g.99594681G=CA1480076858MTTPc.759-52G= (n.759-52G=)
c.510-52G= (n.510-52G=)
c.840-52G= (n.840-52G=)
4g.99594681G>TCA2671533776MTTPc.759-52G>T (n.759-52G>T)
c.510-52G>T (n.510-52G>T)
c.840-52G>T (n.840-52G>T)
 gnomAD v4
4g.99594682T>CCA2578152289MTTPc.759-51T>C (n.759-51T>C)
c.510-51T>C (n.510-51T>C)
c.840-51T>C (n.840-51T>C)
4g.99594683T>CCA102627136MTTPc.759-50T>C (n.759-50T>C)
c.510-50T>C (n.510-50T>C)
c.840-50T>C (n.840-50T>C)
 dbSNP gnomAD v4
4g.99594683T=CA1480076859MTTPc.759-50T= (n.759-50T=)
c.510-50T= (n.510-50T=)
c.840-50T= (n.840-50T=)
4g.99594684C=CA1480076860MTTPc.759-49C= (n.759-49C=)
c.510-49C= (n.510-49C=)
c.840-49C= (n.840-49C=)
4g.99594684C>TCA800752290MTTPc.759-49C>T (n.759-49C>T)
c.510-49C>T (n.510-49C>T)
c.840-49C>T (n.840-49C>T)
 dbSNP gnomAD v3 gnomAD v4
4g.99594685A>GCA2671533777MTTPc.759-48A>G (n.759-48A>G)
c.510-48A>G (n.510-48A>G)
c.840-48A>G (n.840-48A>G)
 gnomAD v4
4g.99594686C>TCA2671533778MTTPc.759-47C>T (n.759-47C>T)
c.510-47C>T (n.510-47C>T)
c.840-47C>T (n.840-47C>T)
 gnomAD v4
4g.99594688C>TCA2671533779MTTPc.759-45C>T (n.759-45C>T)
c.510-45C>T (n.510-45C>T)
c.840-45C>T (n.840-45C>T)
 gnomAD v4
4g.99594689A=CA1480076861MTTPc.759-44A= (n.759-44A=)
c.510-44A= (n.510-44A=)
c.840-44A= (n.840-44A=)
4g.99594689A>GCA553125065MTTPc.759-44A>G (n.759-44A>G)
c.510-44A>G (n.510-44A>G)
c.840-44A>G (n.840-44A>G)
 dbSNP gnomAD v2
4g.99594692delCA2762811568MTTPc.759-41del (n.759-41del)
c.510-41del (n.510-41del)
c.840-41del (n.840-41del)
4g.99594690A>GCA2671533780MTTPc.759-43A>G (n.759-43A>G)
c.510-43A>G (n.510-43A>G)
c.840-43A>G (n.840-43A>G)
 gnomAD v4
4g.99594692A=CA1480076862MTTPc.759-41A= (n.759-41A=)
c.510-41A= (n.510-41A=)
c.840-41A= (n.840-41A=)
4g.99594692A>CCA3021939MTTPc.759-41A>C (n.759-41A>C)
c.510-41A>C (n.510-41A>C)
c.840-41A>C (n.840-41A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99594693G>CCA2671533781MTTPc.759-40G>C (n.759-40G>C)
c.510-40G>C (n.510-40G>C)
c.840-40G>C (n.840-40G>C)
 gnomAD v4
4g.99594693G=CA1480076863MTTPc.759-40G= (n.759-40G=)
c.510-40G= (n.510-40G=)
c.840-40G= (n.840-40G=)
4g.99594693G>TCA553125066MTTPc.759-40G>T (n.759-40G>T)
c.510-40G>T (n.510-40G>T)
c.840-40G>T (n.840-40G>T)
 dbSNP gnomAD v2 gnomAD v4
4g.99594694A=CA1480076864MTTPc.759-39A= (n.759-39A=)
c.510-39A= (n.510-39A=)
c.840-39A= (n.840-39A=)
4g.99594694A>GCA800752296MTTPc.759-39A>G (n.759-39A>G)
c.510-39A>G (n.510-39A>G)
c.840-39A>G (n.840-39A>G)
 dbSNP gnomAD v3 gnomAD v4
4g.99594696T>CCA2762811569MTTPc.759-37T>C (n.759-37T>C)
c.510-37T>C (n.510-37T>C)
c.840-37T>C (n.840-37T>C)
4g.99594697G=CA1480076865MTTPc.759-36G= (n.759-36G=)
c.510-36G= (n.510-36G=)
c.840-36G= (n.840-36G=)
4g.99594697G>TCA1480076866MTTPc.759-36G>T (n.759-36G>T)
c.510-36G>T (n.510-36G>T)
c.840-36G>T (n.840-36G>T)
 dbSNP
4g.99594698A>GCA2671533782MTTPc.759-35A>G (n.759-35A>G)
c.510-35A>G (n.510-35A>G)
c.840-35A>G (n.840-35A>G)
 gnomAD v4
4g.99594699T>CCA3021940MTTPc.759-34T>C (n.759-34T>C)
c.510-34T>C (n.510-34T>C)
c.840-34T>C (n.840-34T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99594699T=CA1480076867MTTPc.759-34T= (n.759-34T=)
c.510-34T= (n.510-34T=)
c.840-34T= (n.840-34T=)
4g.99594703A=CA1480076868MTTPc.759-30A= (n.759-30A=)
c.510-30A= (n.510-30A=)
c.840-30A= (n.840-30A=)
4g.99594703A>TCA1065944146MTTPc.759-30A>T (n.759-30A>T)
c.510-30A>T (n.510-30A>T)
c.840-30A>T (n.840-30A>T)
 dbSNP gnomAD v3 gnomAD v4
4g.99594704A=CA1480076870MTTPc.759-29A= (n.759-29A=)
c.510-29A= (n.510-29A=)
c.840-29A= (n.840-29A=)
4g.99594704A>GCA1480076869MTTPc.759-29A>G (n.759-29A>G)
c.510-29A>G (n.510-29A>G)
c.840-29A>G (n.840-29A>G)
 dbSNP gnomAD v4
4g.99594705T>CCA2671533783MTTPc.759-28T>C (n.759-28T>C)
c.510-28T>C (n.510-28T>C)
c.840-28T>C (n.840-28T>C)
 gnomAD v4
4g.99594706A=CA1480076871MTTPc.759-27A= (n.759-27A=)
c.510-27A= (n.510-27A=)
c.840-27A= (n.840-27A=)
4g.99594706A>GCA102627148MTTPc.759-27A>G (n.759-27A>G)
c.510-27A>G (n.510-27A>G)
c.840-27A>G (n.840-27A>G)
 dbSNP gnomAD v4
4g.99594707T>CCA3021941MTTPc.759-26T>C (n.759-26T>C)
c.510-26T>C (n.510-26T>C)
c.840-26T>C (n.840-26T>C)
 dbSNP ExAC gnomAD v3 gnomAD v4
4g.99594707T=CA1480076872MTTPc.759-26T= (n.759-26T=)
c.510-26T= (n.510-26T=)
c.840-26T= (n.840-26T=)
4g.99594708A=CA1480076873MTTPc.759-25A= (n.759-25A=)
c.510-25A= (n.510-25A=)
c.840-25A= (n.840-25A=)
4g.99594708A>TCA553125069MTTPc.759-25A>T (n.759-25A>T)
c.510-25A>T (n.510-25A>T)
c.840-25A>T (n.840-25A>T)
 dbSNP gnomAD v2 gnomAD v4
4g.99594710C=CA1480076874MTTPc.759-23C= (n.759-23C=)
c.510-23C= (n.510-23C=)
c.840-23C= (n.840-23C=)
4g.99594710C>TCA3021942MTTPc.759-23C>T (n.759-23C>T)
c.510-23C>T (n.510-23C>T)
c.840-23C>T (n.840-23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99594711A=CA1480076875MTTPc.759-22A= (n.759-22A=)
c.510-22A= (n.510-22A=)
c.840-22A= (n.840-22A=)
4g.99594711A>GCA553125091MTTPc.759-22A>G (n.759-22A>G)
c.510-22A>G (n.510-22A>G)
c.840-22A>G (n.840-22A>G)
 dbSNP gnomAD v2 gnomAD v4
4g.99594714T>GCA553125093MTTPc.759-19T>G (n.759-19T>G)
c.510-19T>G (n.510-19T>G)
c.840-19T>G (n.840-19T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.99594714T=CA1480076876MTTPc.759-19T= (n.759-19T=)
c.510-19T= (n.510-19T=)
c.840-19T= (n.840-19T=)
4g.99594715C=CA1480076877MTTPc.759-18C= (n.759-18C=)
c.510-18C= (n.510-18C=)
c.840-18C= (n.840-18C=)
4g.99594715C>TCA553125097MTTPc.759-18C>T (n.759-18C>T)
c.510-18C>T (n.510-18C>T)
c.840-18C>T (n.840-18C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.99594717C>ACA2578152290MTTPc.759-16C>A (n.759-16C>A)
c.510-16C>A (n.510-16C>A)
c.840-16C>A (n.840-16C>A)
4g.99594717C=CA1480076878MTTPc.759-16C= (n.759-16C=)
c.510-16C= (n.510-16C=)
c.840-16C= (n.840-16C=)
4g.99594717C>GCA3021943MTTPc.759-16C>G (n.759-16C>G)
c.510-16C>G (n.510-16C>G)
c.840-16C>G (n.840-16C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.99594717C>TCA2671533784MTTPc.759-16C>T (n.759-16C>T)
c.510-16C>T (n.510-16C>T)
c.840-16C>T (n.840-16C>T)
 gnomAD v4
4g.99594719T>CCA2671533785MTTPc.759-14T>C (n.759-14T>C)
c.510-14T>C (n.510-14T>C)
c.840-14T>C (n.840-14T>C)
 gnomAD v4
4g.99594720T>GCA2762811570MTTPc.759-13T>G (n.759-13T>G)
c.510-13T>G (n.510-13T>G)
c.840-13T>G (n.840-13T>G)
4g.99594722G>ACA1480076880MTTPc.759-11G>A (n.759-11G>A)
c.510-11G>A (n.510-11G>A)
c.840-11G>A (n.840-11G>A)
 ClinVar dbSNP
4g.99594722G=CA1480076879MTTPc.759-11G= (n.759-11G=)
c.510-11G= (n.510-11G=)
c.840-11G= (n.840-11G=)
4g.99594723T>CCA2671533786MTTPc.759-10T>C (n.759-10T>C)
c.510-10T>C (n.510-10T>C)
c.840-10T>C (n.840-10T>C)
 gnomAD v4
4g.99594725T>CCA1480076881MTTPc.759-8T>C (n.759-8T>C)
c.510-8T>C (n.510-8T>C)
c.840-8T>C (n.840-8T>C)
 ClinVar dbSNP
4g.99594725T=CA1480076882MTTPc.759-8T= (n.759-8T=)
c.510-8T= (n.510-8T=)
c.840-8T= (n.840-8T=)
4g.99594726T>ACA2580071898MTTPc.759-7T>A (n.759-7T>A)
c.510-7T>A (n.510-7T>A)
c.840-7T>A (n.840-7T>A)
 ClinVar
4g.99594726T>CCA2671533787MTTPc.759-7T>C (n.759-7T>C)
c.510-7T>C (n.510-7T>C)
c.840-7T>C (n.840-7T>C)
 gnomAD v4
4g.99594728T>ACA800752325MTTPc.759-5T>A (n.759-5T>A)
c.510-5T>A (n.510-5T>A)
c.840-5T>A (n.840-5T>A)
 dbSNP
4g.99594728T>CCA3021944MTTPc.759-5T>C (n.759-5T>C)
c.510-5T>C (n.510-5T>C)
c.840-5T>C (n.840-5T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99594728T>GCA800752321MTTPc.759-5T>G (n.759-5T>G)
c.510-5T>G (n.510-5T>G)
c.840-5T>G (n.840-5T>G)
 dbSNP gnomAD v4
4g.99594728T=CA1480076883MTTPc.759-5T= (n.759-5T=)
c.510-5T= (n.510-5T=)
c.840-5T= (n.840-5T=)
4g.99594729G>ACA3021945MTTPc.759-4G>A (n.759-4G>A)
c.510-4G>A (n.510-4G>A)
c.840-4G>A (n.840-4G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.99594729G=CA1480076884MTTPc.759-4G= (n.759-4G=)
c.510-4G= (n.510-4G=)
c.840-4G= (n.840-4G=)
4g.99594731A=CA1480076885MTTPc.759-2A= (n.759-2A=)
c.510-2A= (n.510-2A=)
c.840-2A= (n.840-2A=)
4g.99594731A>CCA357505633MTTPc.759-2A>C (n.759-2A>C)
c.510-2A>C (n.510-2A>C)
c.840-2A>C (n.840-2A>C)
 gnomAD v4
4g.99594731A>GCA3021946MTTPc.759-2A>G (n.759-2A>G)
c.510-2A>G (n.510-2A>G)
c.840-2A>G (n.840-2A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99594731A>TCA357505632MTTPc.759-2A>T (n.759-2A>T)
c.510-2A>T (n.510-2A>T)
c.840-2A>T (n.840-2A>T)
 dbSNP gnomAD v2 gnomAD v4
4g.99594732G>ACA357505634MTTPc.759-1G>A (n.759-1G>A)
c.510-1G>A (n.510-1G>A)
c.840-1G>A (n.840-1G>A)
4g.99594732G>CCA357505635MTTPc.759-1G>C (n.759-1G>C)
c.510-1G>C (n.510-1G>C)
c.840-1G>C (n.840-1G>C)
4g.99594732G>TCA357505636MTTPc.759-1G>T (n.759-1G>T)
c.510-1G>T (n.510-1G>T)
c.840-1G>T (n.840-1G>T)
4g.99594733G>ACA440329148MTTPc.759G>A (p.Lys253=)
c.510G>A (p.Lys170=)
c.840G>A (p.Lys280=)
 ClinVar dbSNP gnomAD v4
4g.99594733G>CCA357505637MTTPc.759G>C (p.Lys253Asn)
c.510G>C (p.Lys170Asn)
c.840G>C (p.Lys280Asn)
4g.99594733G=CA1480076886MTTPc.759G= (p.Lys253=)
c.510G= (p.Lys170=)
c.840G= (p.Lys280=)
4g.99594733G>TCA357505638MTTPc.759G>T (p.Lys253Asn)
c.510G>T (p.Lys170Asn)
c.840G>T (p.Lys280Asn)
4g.99594734C>ACA357505639MTTPc.760C>A (p.Gln254Lys)
c.511C>A (p.Gln171Lys)
c.841C>A (p.Gln281Lys)
4g.99594734C>GCA357505640MTTPc.760C>G (p.Gln254Glu)
c.511C>G (p.Gln171Glu)
c.841C>G (p.Gln281Glu)
4g.99594734C>TCA357505641MTTPc.760C>T (p.Gln254Ter)
c.511C>T (p.Gln171Ter)
c.841C>T (p.Gln281Ter)
4g.99594735A=CA1480076887MTTPc.761A= (p.Gln254=)
c.512A= (p.Gln171=)
c.842A= (p.Gln281=)
4g.99594735A>CCA357505642MTTPc.761A>C (p.Gln254Pro)
c.512A>C (p.Gln171Pro)
c.842A>C (p.Gln281Pro)
4g.99594735A>GCA357505643MTTPc.761A>G (p.Gln254Arg)
c.512A>G (p.Gln171Arg)
c.842A>G (p.Gln281Arg)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
4g.99594735A>TCA357505644MTTPc.761A>T (p.Gln254Leu)
c.512A>T (p.Gln171Leu)
c.842A>T (p.Gln281Leu)
4g.99594736G>ACA440329150MTTPc.762G>A (p.Gln254=)
c.513G>A (p.Gln171=)
c.843G>A (p.Gln281=)
 ClinVar dbSNP COSMIC
4g.99594736G>CCA357505645MTTPc.762G>C (p.Gln254His)
c.513G>C (p.Gln171His)
c.843G>C (p.Gln281His)
4g.99594736G>TCA357505646MTTPc.762G>T (p.Gln254His)
c.513G>T (p.Gln171His)
c.843G>T (p.Gln281His)
4g.99594737A>CCA357505649MTTPc.763A>C (p.Lys255Gln)
c.514A>C (p.Lys172Gln)
c.844A>C (p.Lys282Gln)
4g.99594737A>GCA357505648MTTPc.763A>G (p.Lys255Glu)
c.514A>G (p.Lys172Glu)
c.844A>G (p.Lys282Glu)
4g.99594737A>TCA357505647MTTPc.763A>T (p.Lys255Ter)
c.514A>T (p.Lys172Ter)
c.844A>T (p.Lys282Ter)
4g.99594738A>CCA357505650MTTPc.764A>C (p.Lys255Thr)
c.515A>C (p.Lys172Thr)
c.845A>C (p.Lys282Thr)
 gnomAD v4
4g.99594738A>GCA357505651MTTPc.764A>G (p.Lys255Arg)
c.515A>G (p.Lys172Arg)
c.845A>G (p.Lys282Arg)
4g.99594738A>TCA357505652MTTPc.764A>T (p.Lys255Ile)
c.515A>T (p.Lys172Ile)
c.845A>T (p.Lys282Ile)
4g.99594739A>CCA357505653MTTPc.765A>C (p.Lys255Asn)
c.516A>C (p.Lys172Asn)
c.846A>C (p.Lys282Asn)
4g.99594739A>GCA440329152MTTPc.765A>G (p.Lys255=)
c.516A>G (p.Lys172=)
c.846A>G (p.Lys282=)
4g.99594739A>TCA357505654MTTPc.765A>T (p.Lys255Asn)
c.516A>T (p.Lys172Asn)
c.846A>T (p.Lys282Asn)
4g.99594740T>ACA357505655MTTPc.766T>A (p.Leu256Ile)
c.517T>A (p.Leu173Ile)
c.847T>A (p.Leu283Ile)
4g.99594740T>CCA3021947MTTPc.766T>C (p.Leu256=)
c.517T>C (p.Leu173=)
c.847T>C (p.Leu283=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.99594740T>GCA357505656MTTPc.766T>G (p.Leu256Val)
c.517T>G (p.Leu173Val)
c.847T>G (p.Leu283Val)
4g.99594740T=CA1480076888MTTPc.766T= (p.Leu256=)
c.517T= (p.Leu173=)
c.847T= (p.Leu283=)
4g.99594741T>ACA357505657MTTPc.767T>A (p.Leu256Ter)
c.518T>A (p.Leu173Ter)
c.848T>A (p.Leu283Ter)
4g.99594741T>CCA357505658MTTPc.767T>C (p.Leu256Ser)
c.518T>C (p.Leu173Ser)
c.848T>C (p.Leu283Ser)
 dbSNP COSMIC
4g.99594741T>GCA357505659MTTPc.767T>G (p.Leu256Ter)
c.518T>G (p.Leu173Ter)
c.848T>G (p.Leu283Ter)
4g.99594741T=CA1480076889MTTPc.767T= (p.Leu256=)
c.518T= (p.Leu173=)
c.848T= (p.Leu283=)
4g.99594742A>CCA357505660MTTPc.768A>C (p.Leu256Phe)
c.519A>C (p.Leu173Phe)
c.849A>C (p.Leu283Phe)
4g.99594742A>GCA440329155MTTPc.768A>G (p.Leu256=)
c.519A>G (p.Leu173=)
c.849A>G (p.Leu283=)
 gnomAD v4
4g.99594742A>TCA357505661MTTPc.768A>T (p.Leu256Phe)
c.519A>T (p.Leu173Phe)
c.849A>T (p.Leu283Phe)
4g.99594743G>ACA357505663MTTPc.769G>A (p.Glu257Lys)
c.520G>A (p.Glu174Lys)
c.850G>A (p.Glu284Lys)
4g.99594743G>CCA3021948MTTPc.769G>C (p.Glu257Gln)
c.520G>C (p.Glu174Gln)
c.850G>C (p.Glu284Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.99594743G=CA1480076890MTTPc.769G= (p.Glu257=)
c.520G= (p.Glu174=)
c.850G= (p.Glu284=)
4g.99594743G>TCA357505662MTTPc.769G>T (p.Glu257Ter)
c.520G>T (p.Glu174Ter)
c.850G>T (p.Glu284Ter)
4g.99594744A>CCA357505664MTTPc.770A>C (p.Glu257Ala)
c.521A>C (p.Glu174Ala)
c.851A>C (p.Glu284Ala)
4g.99594744A>GCA357505666MTTPc.770A>G (p.Glu257Gly)
c.521A>G (p.Glu174Gly)
c.851A>G (p.Glu284Gly)
4g.99594744A>TCA357505665MTTPc.770A>T (p.Glu257Val)
c.521A>T (p.Glu174Val)
c.851A>T (p.Glu284Val)
4g.99594745G>ACA440329159MTTPc.771G>A (p.Glu257=)
c.522G>A (p.Glu174=)
c.852G>A (p.Glu284=)
4g.99594745G>CCA357505667MTTPc.771G>C (p.Glu257Asp)
c.522G>C (p.Glu174Asp)
c.852G>C (p.Glu284Asp)
4g.99594745G>TCA357505668MTTPc.771G>T (p.Glu257Asp)
c.522G>T (p.Glu174Asp)
c.852G>T (p.Glu284Asp)
4g.99594746C>ACA357505669MTTPc.772C>A (p.Leu258Met)
c.523C>A (p.Leu175Met)
c.853C>A (p.Leu285Met)
4g.99594746C>GCA357505670MTTPc.772C>G (p.Leu258Val)
c.523C>G (p.Leu175Val)
c.853C>G (p.Leu285Val)
4g.99594746C>TCA440329161MTTPc.772C>T (p.Leu258=)
c.523C>T (p.Leu175=)
c.853C>T (p.Leu285=)
4g.99594747T>ACA357505671MTTPc.773T>A (p.Leu258Gln)
c.524T>A (p.Leu175Gln)
c.854T>A (p.Leu285Gln)
4g.99594747T>CCA357505672MTTPc.773T>C (p.Leu258Pro)
c.524T>C (p.Leu175Pro)
c.854T>C (p.Leu285Pro)
4g.99594747T>GCA357505673MTTPc.773T>G (p.Leu258Arg)
c.524T>G (p.Leu175Arg)
c.854T>G (p.Leu285Arg)
4g.99594748G>ACA440329165MTTPc.774G>A (p.Leu258=)
c.525G>A (p.Leu175=)
c.855G>A (p.Leu285=)
4g.99594748G>CCA440329163MTTPc.774G>C (p.Leu258=)
c.525G>C (p.Leu175=)
c.855G>C (p.Leu285=)
 COSMIC
4g.99594748G>TCA440329164MTTPc.774G>T (p.Leu258=)
c.525G>T (p.Leu175=)
c.855G>T (p.Leu285=)
4g.99594749A=CA1480076891MTTPc.775A= (p.Lys259=)
c.526A= (p.Lys176=)
c.856A= (p.Lys286=)
4g.99594749A>CCA357505674MTTPc.775A>C (p.Lys259Gln)
c.526A>C (p.Lys176Gln)
c.856A>C (p.Lys286Gln)
 dbSNP gnomAD v3 gnomAD v4
4g.99594749A>GCA357505675MTTPc.775A>G (p.Lys259Glu)
c.526A>G (p.Lys176Glu)
c.856A>G (p.Lys286Glu)
4g.99594749A>TCA357505676MTTPc.775A>T (p.Lys259Ter)
c.526A>T (p.Lys176Ter)
c.856A>T (p.Lys286Ter)
 ClinVar dbSNP
4g.99594750A>CCA357505677MTTPc.776A>C (p.Lys259Thr)
c.527A>C (p.Lys176Thr)
c.857A>C (p.Lys286Thr)
4g.99594750A>GCA357505678MTTPc.776A>G (p.Lys259Arg)
c.527A>G (p.Lys176Arg)
c.857A>G (p.Lys286Arg)
4g.99594750A>TCA357505679MTTPc.776A>T (p.Lys259Met)
c.527A>T (p.Lys176Met)
c.857A>T (p.Lys286Met)
4g.99594751G>ACA440329169MTTPc.777G>A (p.Lys259=)
c.528G>A (p.Lys176=)
c.858G>A (p.Lys286=)
4g.99594751G>CCA357505680MTTPc.777G>C (p.Lys259Asn)
c.528G>C (p.Lys176Asn)
c.858G>C (p.Lys286Asn)
4g.99594751G>TCA357505681MTTPc.777G>T (p.Lys259Asn)
c.528G>T (p.Lys176Asn)
c.858G>T (p.Lys286Asn)
4g.99594752A>CCA357505682MTTPc.778A>C (p.Thr260Pro)
c.529A>C (p.Thr177Pro)
c.859A>C (p.Thr287Pro)
4g.99594752A>GCA357505683MTTPc.778A>G (p.Thr260Ala)
c.529A>G (p.Thr177Ala)
c.859A>G (p.Thr287Ala)
4g.99594752A>TCA357505684MTTPc.778A>T (p.Thr260Ser)
c.529A>T (p.Thr177Ser)
c.859A>T (p.Thr287Ser)
4g.99594753C>ACA357505685MTTPc.779C>A (p.Thr260Lys)
c.530C>A (p.Thr177Lys)
c.860C>A (p.Thr287Lys)
 gnomAD v4
4g.99594753C>GCA357505686MTTPc.779C>G (p.Thr260Arg)
c.530C>G (p.Thr177Arg)
c.860C>G (p.Thr287Arg)
4g.99594753C>TCA357505687MTTPc.779C>T (p.Thr260Ile)
c.530C>T (p.Thr177Ile)
c.860C>T (p.Thr287Ile)
 gnomAD v4
4g.99594754A>CCA440329172MTTPc.780A>C (p.Thr260=)
c.531A>C (p.Thr177=)
c.861A>C (p.Thr287=)
4g.99594754A>GCA440329173MTTPc.780A>G (p.Thr260=)
c.531A>G (p.Thr177=)
c.861A>G (p.Thr287=)
4g.99594754A>TCA440329174MTTPc.780A>T (p.Thr260=)
c.531A>T (p.Thr177=)
c.861A>T (p.Thr287=)
4g.99594755A>CCA357505688MTTPc.781A>C (p.Thr261Pro)
c.532A>C (p.Thr178Pro)
c.862A>C (p.Thr288Pro)
4g.99594755A>GCA357505689MTTPc.781A>G (p.Thr261Ala)
c.532A>G (p.Thr178Ala)
c.862A>G (p.Thr288Ala)
 gnomAD v4
4g.99594755A>TCA357505690MTTPc.781A>T (p.Thr261Ser)
c.532A>T (p.Thr178Ser)
c.862A>T (p.Thr288Ser)
 ClinVar dbSNP
4g.99594756C>ACA357505691MTTPc.782C>A (p.Thr261Asn)
c.533C>A (p.Thr178Asn)
c.863C>A (p.Thr288Asn)
4g.99594756C=CA1480076892MTTPc.782C= (p.Thr261=)
c.533C= (p.Thr178=)
c.863C= (p.Thr288=)
4g.99594756C>GCA102627186MTTPc.782C>G (p.Thr261Ser)
c.533C>G (p.Thr178Ser)
c.863C>G (p.Thr288Ser)
 ClinVar dbSNP gnomAD v4
4g.99594756C>TCA357505692MTTPc.782C>T (p.Thr261Ile)
c.533C>T (p.Thr178Ile)
c.863C>T (p.Thr288Ile)
4g.99594757C>ACA440329175MTTPc.783C>A (p.Thr261=)
c.534C>A (p.Thr178=)
c.864C>A (p.Thr288=)
4g.99594757C=CA1480076893MTTPc.783C= (p.Thr261=)
c.534C= (p.Thr178=)
c.864C= (p.Thr288=)
4g.99594757C>GCA440329176MTTPc.783C>G (p.Thr261=)
c.534C>G (p.Thr178=)
c.864C>G (p.Thr288=)
4g.99594757C>TCA3021949MTTPc.783C>T (p.Thr261=)
c.534C>T (p.Thr178=)
c.864C>T (p.Thr288=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99594758G>ACA3021950MTTPc.784G>A (p.Glu262Lys)
c.535G>A (p.Glu179Lys)
c.865G>A (p.Glu289Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99594758G>CCA357505693MTTPc.784G>C (p.Glu262Gln)
c.535G>C (p.Glu179Gln)
c.865G>C (p.Glu289Gln)
4g.99594758G=CA1480076894MTTPc.784G= (p.Glu262=)
c.535G= (p.Glu179=)
c.865G= (p.Glu289=)
4g.99594758G>TCA357505694MTTPc.784G>T (p.Glu262Ter)
c.535G>T (p.Glu179Ter)
c.865G>T (p.Glu289Ter)
4g.99594759A>CCA357505695MTTPc.785A>C (p.Glu262Ala)
c.536A>C (p.Glu179Ala)
c.866A>C (p.Glu289Ala)
4g.99594759A>GCA357505696MTTPc.785A>G (p.Glu262Gly)
c.536A>G (p.Glu179Gly)
c.866A>G (p.Glu289Gly)
 gnomAD v4
4g.99594759A>TCA357505697MTTPc.785A>T (p.Glu262Val)
c.536A>T (p.Glu179Val)
c.866A>T (p.Glu289Val)
4g.99594760A>CCA357505698MTTPc.786A>C (p.Glu262Asp)
c.537A>C (p.Glu179Asp)
c.867A>C (p.Glu289Asp)
4g.99594760A>GCA440329177MTTPc.786A>G (p.Glu262=)
c.537A>G (p.Glu179=)
c.867A>G (p.Glu289=)
4g.99594760A>TCA357505699MTTPc.786A>T (p.Glu262Asp)
c.537A>T (p.Glu179Asp)
c.867A>T (p.Glu289Asp)
4g.99594761G>ACA357505700MTTPc.787G>A (p.Ala263Thr)
c.538G>A (p.Ala180Thr)
c.868G>A (p.Ala290Thr)
 ClinVar dbSNP gnomAD v4
4g.99594761G>CCA3021951MTTPc.787G>C (p.Ala263Pro)
c.538G>C (p.Ala180Pro)
c.868G>C (p.Ala290Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99594761G=CA1480076895MTTPc.787G= (p.Ala263=)
c.538G= (p.Ala180=)
c.868G= (p.Ala290=)
4g.99594761G>TCA357505701MTTPc.787G>T (p.Ala263Ser)
c.538G>T (p.Ala180Ser)
c.868G>T (p.Ala290Ser)
4g.99594762C>ACA357505702MTTPc.788C>A (p.Ala263Glu)
c.539C>A (p.Ala180Glu)
c.869C>A (p.Ala290Glu)
4g.99594762C=CA1480076896MTTPc.788C= (p.Ala263=)
c.539C= (p.Ala180=)
c.869C= (p.Ala290=)
4g.99594762C>GCA357505703MTTPc.788C>G (p.Ala263Gly)
c.539C>G (p.Ala180Gly)
c.869C>G (p.Ala290Gly)
 dbSNP gnomAD v3 gnomAD v4
4g.99594762C>TCA357505704MTTPc.788C>T (p.Ala263Val)
c.539C>T (p.Ala180Val)
c.869C>T (p.Ala290Val)
4g.99594763A=CA1480076897MTTPc.789A= (p.Ala263=)
c.540A= (p.Ala180=)
c.870A= (p.Ala290=)
4g.99594763A>CCA440329178MTTPc.789A>C (p.Ala263=)
c.540A>C (p.Ala180=)
c.870A>C (p.Ala290=)
4g.99594763A>GCA3021952MTTPc.789A>G (p.Ala263=)
c.540A>G (p.Ala180=)
c.870A>G (p.Ala290=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99594763A>TCA440329179MTTPc.789A>T (p.Ala263=)
c.540A>T (p.Ala180=)
c.870A>T (p.Ala290=)
4g.99594764G>ACA357505705MTTPc.790G>A (p.Gly264Ser)
c.541G>A (p.Gly181Ser)
c.871G>A (p.Gly291Ser)
4g.99594764G>CCA357505707MTTPc.790G>C (p.Gly264Arg)
c.541G>C (p.Gly181Arg)
c.871G>C (p.Gly291Arg)
 dbSNP gnomAD v2 gnomAD v4
4g.99594764G=CA1480076898MTTPc.790G= (p.Gly264=)
c.541G= (p.Gly181=)
c.871G= (p.Gly291=)
4g.99594764G>TCA357505706MTTPc.790G>T (p.Gly264Cys)
c.541G>T (p.Gly181Cys)
c.871G>T (p.Gly291Cys)
4g.99594765G>ACA357505708MTTPc.791G>A (p.Gly264Asp)
c.542G>A (p.Gly181Asp)
c.872G>A (p.Gly291Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99594765G>CCA357505709MTTPc.791G>C (p.Gly264Ala)
c.542G>C (p.Gly181Ala)
c.872G>C (p.Gly291Ala)
4g.99594765G=CA1480076899MTTPc.791G= (p.Gly264=)
c.542G= (p.Gly181=)
c.872G= (p.Gly291=)
4g.99594765G>TCA357505710MTTPc.791G>T (p.Gly264Val)
c.542G>T (p.Gly181Val)
c.872G>T (p.Gly291Val)
4g.99594766C>ACA440329180MTTPc.792C>A (p.Gly264=)
c.543C>A (p.Gly181=)
c.873C>A (p.Gly291=)
4g.99594766C>GCA440329181MTTPc.792C>G (p.Gly264=)
c.543C>G (p.Gly181=)
c.873C>G (p.Gly291=)
4g.99594766C>TCA440329182MTTPc.792C>T (p.Gly264=)
c.543C>T (p.Gly181=)
c.873C>T (p.Gly291=)
 ClinVar
4g.99594767C>ACA357505711MTTPc.793C>A (p.Pro265Thr)
c.544C>A (p.Pro182Thr)
c.874C>A (p.Pro292Thr)
4g.99594767C>GCA357505712MTTPc.793C>G (p.Pro265Ala)
c.544C>G (p.Pro182Ala)
c.874C>G (p.Pro292Ala)
4g.99594767C>TCA357505713MTTPc.793C>T (p.Pro265Ser)
c.544C>T (p.Pro182Ser)
c.874C>T (p.Pro292Ser)
4g.99594768C>ACA357505714MTTPc.794C>A (p.Pro265Gln)
c.545C>A (p.Pro182Gln)
c.875C>A (p.Pro292Gln)
4g.99594768C>GCA357505715MTTPc.794C>G (p.Pro265Arg)
c.545C>G (p.Pro182Arg)
c.875C>G (p.Pro292Arg)
4g.99594768C>TCA357505716MTTPc.794C>T (p.Pro265Leu)
c.545C>T (p.Pro182Leu)
c.875C>T (p.Pro292Leu)
 gnomAD v4
4g.99594769A=CA1480076900MTTPc.795A= (p.Pro265=)
c.546A= (p.Pro182=)
c.876A= (p.Pro292=)
4g.99594769A>CCA440329185MTTPc.795A>C (p.Pro265=)
c.546A>C (p.Pro182=)
c.876A>C (p.Pro292=)
4g.99594769A>GCA440329184MTTPc.795A>G (p.Pro265=)
c.546A>G (p.Pro182=)
c.876A>G (p.Pro292=)
 dbSNP gnomAD v4
4g.99594769A>TCA440329183MTTPc.795A>T (p.Pro265=)
c.546A>T (p.Pro182=)
c.876A>T (p.Pro292=)
4g.99594770A>CCA440329186MTTPc.796A>C (p.Arg266=)
c.547A>C (p.Arg183=)
c.877A>C (p.Arg293=)
4g.99594770A>GCA357505717MTTPc.796A>G (p.Arg266Gly)
c.547A>G (p.Arg183Gly)
c.877A>G (p.Arg293Gly)
4g.99594770A>TCA357505718MTTPc.796A>T (p.Arg266Ter)
c.547A>T (p.Arg183Ter)
c.877A>T (p.Arg293Ter)
4g.99594771G>ACA357505719MTTPc.797G>A (p.Arg266Lys)
c.548G>A (p.Arg183Lys)
c.878G>A (p.Arg293Lys)
 dbSNP gnomAD v4
4g.99594771G>CCA357505721MTTPc.797G>C (p.Arg266Thr)
c.548G>C (p.Arg183Thr)
c.878G>C (p.Arg293Thr)
4g.99594771G=CA1480076901MTTPc.797G= (p.Arg266=)
c.548G= (p.Arg183=)
c.878G= (p.Arg293=)
4g.99594771G>TCA357505720MTTPc.797G>T (p.Arg266Ile)
c.548G>T (p.Arg183Ile)
c.878G>T (p.Arg293Ile)

Number of alleles fetched