Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.133756968G>ACA122571TFc.829G>A (p.Gly277Ser)
c.194G>A (p.Arg65Gln)
c.697G>A (p.Gly233Ser)
c.448G>A (p.Gly150Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133756968G>CCA354604961TFc.829G>C (p.Gly277Arg)
c.194G>C (p.Arg65Pro)
c.697G>C (p.Gly233Arg)
c.448G>C (p.Gly150Arg)
3g.133756968G=CA1403107416TFc.829G= (p.Gly277=)
c.194G= (p.Arg65=)
c.697G= (p.Gly233=)
c.448G= (p.Gly150=)
3g.133756968G>TCA354604962TFc.829G>T (p.Gly277Cys)
c.194G>T (p.Arg65Leu)
c.697G>T (p.Gly233Cys)
c.448G>T (p.Gly150Cys)
3g.133756969G>ACA122557TFc.830G>A (p.Gly277Asp)
c.195G>A (p.Arg65=)
c.698G>A (p.Gly233Asp)
c.449G>A (p.Gly150Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133756969G>CCA354604963TFc.830G>C (p.Gly277Ala)
c.195G>C (p.Arg65=)
c.698G>C (p.Gly233Ala)
c.449G>C (p.Gly150Ala)
3g.133756969G=CA1403107419TFc.830G= (p.Gly277=)
c.195G= (p.Arg65=)
c.698G= (p.Gly233=)
c.449G= (p.Gly150=)
3g.133756969G>TCA354604964TFc.830G>T (p.Gly277Val)
c.195G>T (p.Arg65=)
c.698G>T (p.Gly233Val)
c.449G>T (p.Gly150Val)
3g.133756970C>ACA435806677TFc.831C>A (p.Gly277=)
c.196C>A (p.Gln66Lys)
c.699C>A (p.Gly233=)
c.450C>A (p.Gly150=)
3g.133756970C=CA1403107424TFc.831C= (p.Gly277=)
c.196C= (p.Gln66=)
c.699C= (p.Gly233=)
c.450C= (p.Gly150=)
3g.133756970C>GCA435806679TFc.831C>G (p.Gly277=)
c.196C>G (p.Gln66Glu)
c.699C>G (p.Gly233=)
c.450C>G (p.Gly150=)
3g.133756970C>TCA435806678TFc.831C>T (p.Gly277=)
c.196C>T (p.Gln66Ter)
c.699C>T (p.Gly233=)
c.450C>T (p.Gly150=)
 dbSNP
3g.133756971A>CCA354604965TFc.832A>C (p.Lys278Gln)
c.197A>C (p.Gln66Pro)
c.700A>C (p.Lys234Gln)
c.451A>C (p.Lys151Gln)
3g.133756971A>GCA354604966TFc.832A>G (p.Lys278Glu)
c.197A>G (p.Gln66Arg)
c.700A>G (p.Lys234Glu)
c.451A>G (p.Lys151Glu)
3g.133756971A>TCA354604967TFc.832A>T (p.Lys278Ter)
c.197A>T (p.Gln66Leu)
c.700A>T (p.Lys234Ter)
c.451A>T (p.Lys151Ter)
3g.133756972A>CCA354604970TFc.833A>C (p.Lys278Thr)
c.198A>C (p.Gln66His)
c.701A>C (p.Lys234Thr)
c.452A>C (p.Lys151Thr)
3g.133756972A>GCA354604968TFc.833A>G (p.Lys278Arg)
c.198A>G (p.Gln66=)
c.701A>G (p.Lys234Arg)
c.452A>G (p.Lys151Arg)
3g.133756972A>TCA354604969TFc.833A>T (p.Lys278Met)
c.198A>T (p.Gln66His)
c.701A>T (p.Lys234Met)
c.452A>T (p.Lys151Met)
3g.133756973G>ACA435806680TFc.834G>A (p.Lys278=)
c.199G>A (p.Gly67Arg)
c.702G>A (p.Lys234=)
c.453G>A (p.Lys151=)
3g.133756973G>CCA354604971TFc.834G>C (p.Lys278Asn)
c.199G>C (p.Gly67Arg)
c.702G>C (p.Lys234Asn)
c.453G>C (p.Lys151Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133756973G=CA1403107432TFc.834G= (p.Lys278=)
c.199G= (p.Gly67=)
c.702G= (p.Lys234=)
c.453G= (p.Lys151=)
3g.133756973G>TCA354604972TFc.834G>T (p.Lys278Asn)
c.199G>T (p.Gly67Ter)
c.702G>T (p.Lys234Asn)
c.453G>T (p.Lys151Asn)
3g.133756974G>ACA354604973TFc.835G>A (p.Glu279Lys)
c.200G>A (p.Gly67Glu)
c.703G>A (p.Glu235Lys)
c.454G>A (p.Glu152Lys)
 COSMIC
3g.133756974G>CCA354604974TFc.835G>C (p.Glu279Gln)
c.200G>C (p.Gly67Ala)
c.703G>C (p.Glu235Gln)
c.454G>C (p.Glu152Gln)
3g.133756974G>TCA354604975TFc.835G>T (p.Glu279Ter)
c.200G>T (p.Gly67Val)
c.703G>T (p.Glu235Ter)
c.454G>T (p.Glu152Ter)
3g.133756975A>CCA354604976TFc.836A>C (p.Glu279Ala)
c.201A>C (p.Gly67=)
c.704A>C (p.Glu235Ala)
c.455A>C (p.Glu152Ala)
3g.133756975A>GCA354604977TFc.836A>G (p.Glu279Gly)
c.201A>G (p.Gly67=)
c.704A>G (p.Glu235Gly)
c.455A>G (p.Glu152Gly)
3g.133756975A>TCA354604978TFc.836A>T (p.Glu279Val)
c.201A>T (p.Gly67=)
c.704A>T (p.Glu235Val)
c.455A>T (p.Glu152Val)
3g.133756976G>ACA435806681TFc.837G>A (p.Glu279=)
c.202G>A (p.Gly68Arg)
c.705G>A (p.Glu235=)
c.456G>A (p.Glu152=)
3g.133756976G>CCA354604979TFc.837G>C (p.Glu279Asp)
c.202G>C (p.Gly68Arg)
c.705G>C (p.Glu235Asp)
c.456G>C (p.Glu152Asp)
3g.133756976G>TCA354604980TFc.837G>T (p.Glu279Asp)
c.202G>T (p.Gly68Ter)
c.705G>T (p.Glu235Asp)
c.456G>T (p.Glu152Asp)
3g.133756977G>ACA83674609TFc.838G>A (p.Asp280Asn)
c.203G>A (p.Gly68Glu)
c.706G>A (p.Asp236Asn)
c.457G>A (p.Asp153Asn)
 dbSNP gnomAD v4
3g.133756977G>CCA354604981TFc.838G>C (p.Asp280His)
c.203G>C (p.Gly68Ala)
c.706G>C (p.Asp236His)
c.457G>C (p.Asp153His)
3g.133756977G=CA1403107437TFc.838G= (p.Asp280=)
c.203G= (p.Gly68=)
c.706G= (p.Asp236=)
c.457G= (p.Asp153=)
3g.133756977G>TCA354604982TFc.838G>T (p.Asp280Tyr)
c.203G>T (p.Gly68Val)
c.706G>T (p.Asp236Tyr)
c.457G>T (p.Asp153Tyr)
 dbSNP gnomAD v2 gnomAD v4
3g.133756978A>CCA354604984TFc.839A>C (p.Asp280Ala)
c.204A>C (p.Gly68=)
c.707A>C (p.Asp236Ala)
c.458A>C (p.Asp153Ala)
3g.133756978A>GCA354604985TFc.839A>G (p.Asp280Gly)
c.204A>G (p.Gly68=)
c.707A>G (p.Asp236Gly)
c.458A>G (p.Asp153Gly)
3g.133756978A>TCA354604983TFc.839A>T (p.Asp280Val)
c.204A>T (p.Gly68=)
c.707A>T (p.Asp236Val)
c.458A>T (p.Asp153Val)
3g.133756979C>ACA354604987TFc.840C>A (p.Asp280Glu)
c.205C>A (p.Leu69Ile)
c.708C>A (p.Asp236Glu)
c.459C>A (p.Asp153Glu)
3g.133756979C=CA1403107440TFc.840C= (p.Asp280=)
c.205C= (p.Leu69=)
c.708C= (p.Asp236=)
c.459C= (p.Asp153=)
3g.133756979C>GCA354604986TFc.840C>G (p.Asp280Glu)
c.205C>G (p.Leu69Val)
c.708C>G (p.Asp236Glu)
c.459C>G (p.Asp153Glu)
3g.133756979C>TCA2625110TFc.840C>T (p.Asp280=)
c.205C>T (p.Leu69Phe)
c.708C>T (p.Asp236=)
c.459C>T (p.Asp153=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133756980T>ACA354604988TFc.841T>A (p.Leu281Met)
c.206T>A (p.Leu69His)
c.709T>A (p.Leu237Met)
c.460T>A (p.Leu154Met)
3g.133756980T>CCA435806682TFc.841T>C (p.Leu281=)
c.206T>C (p.Leu69Pro)
c.709T>C (p.Leu237=)
c.460T>C (p.Leu154=)
3g.133756980T>GCA354604989TFc.841T>G (p.Leu281Val)
c.206T>G (p.Leu69Arg)
c.709T>G (p.Leu237Val)
c.460T>G (p.Leu154Val)
3g.133756981T>ACA354604990TFc.842T>A (p.Leu281Ter)
c.207T>A (p.Leu69=)
c.710T>A (p.Leu237Ter)
c.461T>A (p.Leu154Ter)
3g.133756981T>CCA354604991TFc.842T>C (p.Leu281Ser)
c.207T>C (p.Leu69=)
c.710T>C (p.Leu237Ser)
c.461T>C (p.Leu154Ser)
 gnomAD v4
3g.133756981T>GCA354604992TFc.842T>G (p.Leu281Trp)
c.207T>G (p.Leu69=)
c.710T>G (p.Leu237Trp)
c.461T>G (p.Leu154Trp)
3g.133756982G>ACA435806683TFc.843G>A (p.Leu281=)
c.208G>A (p.Asp70Asn)
c.711G>A (p.Leu237=)
c.462G>A (p.Leu154=)
3g.133756982G>CCA354604993TFc.843G>C (p.Leu281Phe)
c.208G>C (p.Asp70His)
c.711G>C (p.Leu237Phe)
c.462G>C (p.Leu154Phe)
3g.133756982G>TCA354604994TFc.843G>T (p.Leu281Phe)
c.208G>T (p.Asp70Tyr)
c.711G>T (p.Leu237Phe)
c.462G>T (p.Leu154Phe)
3g.133756983A>CCA354604995TFc.844A>C (p.Ile282Leu)
c.209A>C (p.Asp70Ala)
c.712A>C (p.Ile238Leu)
c.463A>C (p.Ile155Leu)
3g.133756983A>GCA354604996TFc.844A>G (p.Ile282Val)
c.209A>G (p.Asp70Gly)
c.712A>G (p.Ile238Val)
c.463A>G (p.Ile155Val)
3g.133756983A>TCA354604997TFc.844A>T (p.Ile282Phe)
c.209A>T (p.Asp70Val)
c.712A>T (p.Ile238Phe)
c.463A>T (p.Ile155Phe)
3g.133756984T>ACA354604998TFc.845T>A (p.Ile282Asn)
c.210T>A (p.Asp70Glu)
c.713T>A (p.Ile238Asn)
c.464T>A (p.Ile155Asn)
3g.133756984T>CCA354604999TFc.845T>C (p.Ile282Thr)
c.210T>C (p.Asp70=)
c.713T>C (p.Ile238Thr)
c.464T>C (p.Ile155Thr)
 dbSNP gnomAD v4
3g.133756984T>GCA354605000TFc.845T>G (p.Ile282Ser)
c.210T>G (p.Asp70Glu)
c.713T>G (p.Ile238Ser)
c.464T>G (p.Ile155Ser)
3g.133756984T=CA1403107443TFc.845T= (p.Ile282=)
c.210T= (p.Asp70=)
c.713T= (p.Ile238=)
c.464T= (p.Ile155=)
3g.133756985C>ACA435806685TFc.846C>A (p.Ile282=)
c.211C>A (p.Leu71Met)
c.714C>A (p.Ile238=)
c.465C>A (p.Ile155=)
3g.133756985C=CA1403107445TFc.846C= (p.Ile282=)
c.211C= (p.Leu71=)
c.714C= (p.Ile238=)
c.465C= (p.Ile155=)
3g.133756985C>GCA2625111TFc.846C>G (p.Ile282Met)
c.211C>G (p.Leu71Val)
c.714C>G (p.Ile238Met)
c.465C>G (p.Ile155Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133756985C>TCA435806684TFc.846C>T (p.Ile282=)
c.211C>T (p.Leu71=)
c.714C>T (p.Ile238=)
c.465C>T (p.Ile155=)
3g.133756986T>ACA354605002TFc.847T>A (p.Trp283Arg)
c.212T>A (p.Leu71Gln)
c.715T>A (p.Trp239Arg)
c.466T>A (p.Trp156Arg)
3g.133756986T>CCA2625112TFc.847T>C (p.Trp283Arg)
c.212T>C (p.Leu71Pro)
c.715T>C (p.Trp239Arg)
c.466T>C (p.Trp156Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133756986T>GCA354605001TFc.847T>G (p.Trp283Gly)
c.212T>G (p.Leu71Arg)
c.715T>G (p.Trp239Gly)
c.466T>G (p.Trp156Gly)
3g.133756986T=CA1403107450TFc.847T= (p.Trp283=)
c.212T= (p.Leu71=)
c.715T= (p.Trp239=)
c.466T= (p.Trp156=)
3g.133756987G>ACA354605003TFc.848G>A (p.Trp283Ter)
c.213G>A (p.Leu71=)
c.716G>A (p.Trp239Ter)
c.467G>A (p.Trp156Ter)
 dbSNP gnomAD v3 gnomAD v4
3g.133756987G>CCA354605004TFc.848G>C (p.Trp283Ser)
c.213G>C (p.Leu71=)
c.716G>C (p.Trp239Ser)
c.467G>C (p.Trp156Ser)
3g.133756987G=CA1403107451TFc.848G= (p.Trp283=)
c.213G= (p.Leu71=)
c.716G= (p.Trp239=)
c.467G= (p.Trp156=)
3g.133756987G>TCA354605005TFc.848G>T (p.Trp283Leu)
c.213G>T (p.Leu71=)
c.716G>T (p.Trp239Leu)
c.467G>T (p.Trp156Leu)
3g.133756988G>ACA354605006TFc.849G>A (p.Trp283Ter)
c.214G>A (p.Gly72Arg)
c.717G>A (p.Trp239Ter)
c.468G>A (p.Trp156Ter)
 gnomAD v4
3g.133756988G>CCA354605007TFc.849G>C (p.Trp283Cys)
c.214G>C (p.Gly72Arg)
c.717G>C (p.Trp239Cys)
c.468G>C (p.Trp156Cys)
3g.133756988G>TCA354605008TFc.849G>T (p.Trp283Cys)
c.214G>T (p.Gly72Ter)
c.717G>T (p.Trp239Cys)
c.468G>T (p.Trp156Cys)
3g.133756989G>ACA354605009TFc.850G>A (p.Glu284Lys)
c.215G>A (p.Gly72Glu)
c.718G>A (p.Glu240Lys)
c.469G>A (p.Glu157Lys)
3g.133756989G>CCA354605010TFc.850G>C (p.Glu284Gln)
c.215G>C (p.Gly72Ala)
c.718G>C (p.Glu240Gln)
c.469G>C (p.Glu157Gln)
3g.133756989G>TCA354605011TFc.850G>T (p.Glu284Ter)
c.215G>T (p.Gly72Val)
c.718G>T (p.Glu240Ter)
c.469G>T (p.Glu157Ter)
3g.133756990A=CA1403107453TFc.851A= (p.Glu284=)
c.216A= (p.Gly72=)
c.719A= (p.Glu240=)
c.470A= (p.Glu157=)
3g.133756990A>CCA354605012TFc.851A>C (p.Glu284Ala)
c.216A>C (p.Gly72=)
c.719A>C (p.Glu240Ala)
c.470A>C (p.Glu157Ala)
3g.133756990A>GCA354605013TFc.851A>G (p.Glu284Gly)
c.216A>G (p.Gly72=)
c.719A>G (p.Glu240Gly)
c.470A>G (p.Glu157Gly)
 dbSNP gnomAD v3 gnomAD v4
3g.133756990A>TCA354605014TFc.851A>T (p.Glu284Val)
c.216A>T (p.Gly72=)
c.719A>T (p.Glu240Val)
c.470A>T (p.Glu157Val)
3g.133756991G>ACA435806686TFc.852G>A (p.Glu284=)
c.217G>A (p.Ala73Thr)
c.720G>A (p.Glu240=)
c.471G>A (p.Glu157=)
3g.133756991G>CCA354605016TFc.852G>C (p.Glu284Asp)
c.217G>C (p.Ala73Pro)
c.720G>C (p.Glu240Asp)
c.471G>C (p.Glu157Asp)
3g.133756991G>TCA354605015TFc.852G>T (p.Glu284Asp)
c.217G>T (p.Ala73Ser)
c.720G>T (p.Glu240Asp)
c.471G>T (p.Glu157Asp)
3g.133756992C>ACA354605017TFc.853C>A (p.Leu285Ile)
c.218C>A (p.Ala73Asp)
c.721C>A (p.Leu241Ile)
c.472C>A (p.Leu158Ile)
3g.133756992C=CA1403107458TFc.853C= (p.Leu285=)
c.218C= (p.Ala73=)
c.721C= (p.Leu241=)
c.472C= (p.Leu158=)
3g.133756992C>GCA354605018TFc.853C>G (p.Leu285Val)
c.218C>G (p.Ala73Gly)
c.721C>G (p.Leu241Val)
c.472C>G (p.Leu158Val)
3g.133756992C>TCA2625113TFc.853C>T (p.Leu285Phe)
c.218C>T (p.Ala73Val)
c.721C>T (p.Leu241Phe)
c.472C>T (p.Leu158Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.133756993T>ACA354605019TFc.854T>A (p.Leu285His)
c.219T>A (p.Ala73=)
c.722T>A (p.Leu241His)
c.473T>A (p.Leu158His)
3g.133756993T>CCA354605020TFc.854T>C (p.Leu285Pro)
c.219T>C (p.Ala73=)
c.722T>C (p.Leu241Pro)
c.473T>C (p.Leu158Pro)
3g.133756993T>GCA354605021TFc.854T>G (p.Leu285Arg)
c.219T>G (p.Ala73=)
c.722T>G (p.Leu241Arg)
c.473T>G (p.Leu158Arg)
3g.133756994T>ACA435806687TFc.855T>A (p.Leu285=)
c.220T>A (p.Ser74Thr)
c.723T>A (p.Leu241=)
c.474T>A (p.Leu158=)
3g.133756994T>CCA435806688TFc.855T>C (p.Leu285=)
c.220T>C (p.Ser74Pro)
c.723T>C (p.Leu241=)
c.474T>C (p.Leu158=)
3g.133756994T>GCA435806689TFc.855T>G (p.Leu285=)
c.220T>G (p.Ser74Ala)
c.723T>G (p.Leu241=)
c.474T>G (p.Leu158=)
3g.133756995C>ACA354605022TFc.856C>A (p.Leu286Ile)
c.221C>A (p.Ser74Tyr)
c.724C>A (p.Leu242Ile)
c.475C>A (p.Leu159Ile)
3g.133756995C>GCA354605023TFc.856C>G (p.Leu286Val)
c.221C>G (p.Ser74Cys)
c.724C>G (p.Leu242Val)
c.475C>G (p.Leu159Val)
 gnomAD v4
3g.133756995C>TCA354605024TFc.856C>T (p.Leu286Phe)
c.221C>T (p.Ser74Phe)
c.724C>T (p.Leu242Phe)
c.475C>T (p.Leu159Phe)
3g.133756996T>ACA354605025TFc.857T>A (p.Leu286His)
c.222T>A (p.Ser74=)
c.725T>A (p.Leu242His)
c.476T>A (p.Leu159His)
3g.133756996T>CCA354605026TFc.857T>C (p.Leu286Pro)
c.222T>C (p.Ser74=)
c.725T>C (p.Leu242Pro)
c.476T>C (p.Leu159Pro)
3g.133756996T>GCA354605027TFc.857T>G (p.Leu286Arg)
c.222T>G (p.Ser74=)
c.725T>G (p.Leu242Arg)
c.476T>G (p.Leu159Arg)
 gnomAD v4
3g.133756997C>ACA435806690TFc.858C>A (p.Leu286=)
c.223C>A (p.Gln75Lys)
c.726C>A (p.Leu242=)
c.477C>A (p.Leu159=)
3g.133756997C=CA1403107463TFc.858C= (p.Leu286=)
c.223C= (p.Gln75=)
c.726C= (p.Leu242=)
c.477C= (p.Leu159=)
3g.133756997C>GCA435806691TFc.858C>G (p.Leu286=)
c.223C>G (p.Gln75Glu)
c.726C>G (p.Leu242=)
c.477C>G (p.Leu159=)
3g.133756997C>TCA435806692TFc.858C>T (p.Leu286=)
c.223C>T (p.Gln75Ter)
c.726C>T (p.Leu242=)
c.477C>T (p.Leu159=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133756998A>CCA354605029TFc.859A>C (p.Asn287His)
c.224A>C (p.Gln75Pro)
c.727A>C (p.Asn243His)
c.478A>C (p.Asn160His)
3g.133756998A>GCA354605030TFc.859A>G (p.Asn287Asp)
c.224A>G (p.Gln75Arg)
c.727A>G (p.Asn243Asp)
c.478A>G (p.Asn160Asp)
3g.133756998A>TCA354605028TFc.859A>T (p.Asn287Tyr)
c.224A>T (p.Gln75Leu)
c.727A>T (p.Asn243Tyr)
c.478A>T (p.Asn160Tyr)
3g.133756999A=CA1403107469TFc.860A= (p.Asn287=)
c.225A= (p.Gln75=)
c.728A= (p.Asn243=)
c.479A= (p.Asn160=)
3g.133756999A>CCA354605031TFc.860A>C (p.Asn287Thr)
c.225A>C (p.Gln75His)
c.728A>C (p.Asn243Thr)
c.479A>C (p.Asn160Thr)
3g.133756999A>GCA2625114TFc.860A>G (p.Asn287Ser)
c.225A>G (p.Gln75=)
c.728A>G (p.Asn243Ser)
c.479A>G (p.Asn160Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.133756999A>TCA354605032TFc.860A>T (p.Asn287Ile)
c.225A>T (p.Gln75His)
c.728A>T (p.Asn243Ile)
c.479A>T (p.Asn160Ile)
 dbSNP gnomAD v2 gnomAD v4
3g.133757000C>ACA354605033TFc.861C>A (p.Asn287Lys)
c.226C>A (p.Pro76Thr)
c.729C>A (p.Asn243Lys)
c.480C>A (p.Asn160Lys)
3g.133757000C=CA1403107478TFc.861C= (p.Asn287=)
c.226C= (p.Pro76=)
c.729C= (p.Asn243=)
c.480C= (p.Asn160=)
3g.133757000C>GCA354605034TFc.861C>G (p.Asn287Lys)
c.226C>G (p.Pro76Ala)
c.729C>G (p.Asn243Lys)
c.480C>G (p.Asn160Lys)
 gnomAD v4
3g.133757000C>TCA435806695TFc.861C>T (p.Asn287=)
c.226C>T (p.Pro76Ser)
c.729C>T (p.Asn243=)
c.480C>T (p.Asn160=)
 dbSNP gnomAD v2 gnomAD v4
3g.133757001C>ACA354605037TFc.862C>A (p.Gln288Lys)
c.227C>A (p.Pro76Gln)
c.730C>A (p.Gln244Lys)
c.481C>A (p.Gln161Lys)
 dbSNP gnomAD v2
3g.133757001C=CA1403107482TFc.862C= (p.Gln288=)
c.227C= (p.Pro76=)
c.730C= (p.Gln244=)
c.481C= (p.Gln161=)
3g.133757001C>GCA354605035TFc.862C>G (p.Gln288Glu)
c.227C>G (p.Pro76Arg)
c.730C>G (p.Gln244Glu)
c.481C>G (p.Gln161Glu)
3g.133757001C>TCA354605036TFc.862C>T (p.Gln288Ter)
c.227C>T (p.Pro76Leu)
c.730C>T (p.Gln244Ter)
c.481C>T (p.Gln161Ter)
3g.133757002A>CCA354605038TFc.863A>C (p.Gln288Pro)
c.228A>C (p.Pro76=)
c.731A>C (p.Gln244Pro)
c.482A>C (p.Gln161Pro)
3g.133757002A>GCA354605039TFc.863A>G (p.Gln288Arg)
c.228A>G (p.Pro76=)
c.731A>G (p.Gln244Arg)
c.482A>G (p.Gln161Arg)
3g.133757002A>TCA354605040TFc.863A>T (p.Gln288Leu)
c.228A>T (p.Pro76=)
c.731A>T (p.Gln244Leu)
c.482A>T (p.Gln161Leu)
3g.133757003G>ACA435806696TFc.864G>A (p.Gln288=)
c.229G>A (p.Gly77Ser)
c.732G>A (p.Gln244=)
c.483G>A (p.Gln161=)
 gnomAD v4
3g.133757003G>CCA354605041TFc.864G>C (p.Gln288His)
c.229G>C (p.Gly77Arg)
c.732G>C (p.Gln244His)
c.483G>C (p.Gln161His)
3g.133757003G=CA1403107484TFc.864G= (p.Gln288=)
c.229G= (p.Gly77=)
c.732G= (p.Gln244=)
c.483G= (p.Gln161=)
3g.133757003G>TCA2625115TFc.864G>T (p.Gln288His)
c.229G>T (p.Gly77Cys)
c.732G>T (p.Gln244His)
c.483G>T (p.Gln161His)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133757004G>ACA354605044TFc.865G>A (p.Ala289Thr)
c.230G>A (p.Gly77Asp)
c.733G>A (p.Ala245Thr)
c.484G>A (p.Ala162Thr)
 dbSNP gnomAD v2 gnomAD v4
3g.133757004G>CCA354605043TFc.865G>C (p.Ala289Pro)
c.230G>C (p.Gly77Ala)
c.733G>C (p.Ala245Pro)
c.484G>C (p.Ala162Pro)
3g.133757004G=CA1403107487TFc.865G= (p.Ala289=)
c.230G= (p.Gly77=)
c.733G= (p.Ala245=)
c.484G= (p.Ala162=)
3g.133757004G>TCA354605042TFc.865G>T (p.Ala289Ser)
c.230G>T (p.Gly77Val)
c.733G>T (p.Ala245Ser)
c.484G>T (p.Ala162Ser)
 dbSNP gnomAD v4
3g.133757005C>ACA354605045TFc.866C>A (p.Ala289Asp)
c.231C>A (p.Gly77=)
c.734C>A (p.Ala245Asp)
c.485C>A (p.Ala162Asp)
3g.133757005C>GCA354605047TFc.866C>G (p.Ala289Gly)
c.231C>G (p.Gly77=)
c.734C>G (p.Ala245Gly)
c.485C>G (p.Ala162Gly)
3g.133757005C>TCA354605046TFc.866C>T (p.Ala289Val)
c.231C>T (p.Gly77=)
c.734C>T (p.Ala245Val)
c.485C>T (p.Ala162Val)
 gnomAD v4
3g.133757007delCA2667764515TFc.868del (p.Gln290ArgfsTer?)
c.233del (p.Pro78GlnfsTer?)
c.736del (p.Gln246ArgfsTer?)
c.487del (p.Gln163ArgfsTer?)
 gnomAD v4
3g.133757006C>ACA435806699TFc.867C>A (p.Ala289=)
c.232C>A (p.Pro78Thr)
c.735C>A (p.Ala245=)
c.486C>A (p.Ala162=)
3g.133757006C>GCA435806697TFc.867C>G (p.Ala289=)
c.232C>G (p.Pro78Ala)
c.735C>G (p.Ala245=)
c.486C>G (p.Ala162=)
3g.133757006C>TCA435806698TFc.867C>T (p.Ala289=)
c.232C>T (p.Pro78Ser)
c.735C>T (p.Ala245=)
c.486C>T (p.Ala162=)
3g.133757007C>ACA354605048TFc.868C>A (p.Gln290Lys)
c.233C>A (p.Pro78Gln)
c.736C>A (p.Gln246Lys)
c.487C>A (p.Gln163Lys)
3g.133757007C=CA1403107489TFc.868C= (p.Gln290=)
c.233C= (p.Pro78=)
c.736C= (p.Gln246=)
c.487C= (p.Gln163=)
3g.133757007C>GCA354605049TFc.868C>G (p.Gln290Glu)
c.233C>G (p.Pro78Arg)
c.736C>G (p.Gln246Glu)
c.487C>G (p.Gln163Glu)
 dbSNP gnomAD v3 gnomAD v4
3g.133757007C>TCA354605050TFc.868C>T (p.Gln290Ter)
c.233C>T (p.Pro78Leu)
c.736C>T (p.Gln246Ter)
c.487C>T (p.Gln163Ter)
3g.133757008A>CCA354605051TFc.869A>C (p.Gln290Pro)
c.234A>C (p.Pro78=)
c.737A>C (p.Gln246Pro)
c.488A>C (p.Gln163Pro)
3g.133757008A>GCA354605052TFc.869A>G (p.Gln290Arg)
c.234A>G (p.Pro78=)
c.737A>G (p.Gln246Arg)
c.488A>G (p.Gln163Arg)
 COSMIC
3g.133757008A>TCA354605053TFc.869A>T (p.Gln290Leu)
c.234A>T (p.Pro78=)
c.737A>T (p.Gln246Leu)
c.488A>T (p.Gln163Leu)
3g.133757009G>ACA435806700TFc.870G>A (p.Gln290=)
c.235G>A (p.Gly79Arg)
c.738G>A (p.Gln246=)
c.489G>A (p.Gln163=)
3g.133757009G>CCA354605054TFc.870G>C (p.Gln290His)
c.235G>C (p.Gly79Arg)
c.738G>C (p.Gln246His)
c.489G>C (p.Gln163His)
3g.133757009G>TCA354605055TFc.870G>T (p.Gln290His)
c.235G>T (p.Gly79Ter)
c.738G>T (p.Gln246His)
c.489G>T (p.Gln163His)
3g.133757010G>ACA354605056TFc.870+1G>A (n.870+1G>A)
c.235+1G>A (n.235+1G>A)
c.738+1G>A (n.738+1G>A)
c.489+1G>A (n.489+1G>A)
3g.133757010G>CCA354605057TFc.870+1G>C (n.870+1G>C)
c.235+1G>C (n.235+1G>C)
c.738+1G>C (n.738+1G>C)
c.489+1G>C (n.489+1G>C)
3g.133757010G>TCA354605058TFc.870+1G>T (n.870+1G>T)
c.235+1G>T (n.235+1G>T)
c.738+1G>T (n.738+1G>T)
c.489+1G>T (n.489+1G>T)
3g.133757011T>ACA354605061TFc.870+2T>A (n.870+2T>A)
c.235+2T>A (n.235+2T>A)
c.738+2T>A (n.738+2T>A)
c.489+2T>A (n.489+2T>A)
3g.133757011T>CCA354605060TFc.870+2T>C (n.870+2T>C)
c.235+2T>C (n.235+2T>C)
c.738+2T>C (n.738+2T>C)
c.489+2T>C (n.489+2T>C)
3g.133757011T>GCA354605059TFc.870+2T>G (n.870+2T>G)
c.235+2T>G (n.235+2T>G)
c.738+2T>G (n.738+2T>G)
c.489+2T>G (n.489+2T>G)
3g.133757012A>GCA2667764516TFc.870+3A>G (n.870+3A>G)
c.235+3A>G (n.235+3A>G)
c.738+3A>G (n.738+3A>G)
c.489+3A>G (n.489+3A>G)
 gnomAD v4
3g.133757012_133757013delinsATCA1403107493TFc.870+3_870+4delinsAT (n.870+3_870+4delinsAT)
c.235+3_235+4delinsAT (n.235+3_235+4delinsAT)
c.738+3_738+4delinsAT (n.738+3_738+4delinsAT)
c.489+3_489+4delinsAT (n.489+3_489+4delinsAT)
3g.133757012_133757013insCATTTTGGCAAAGACAAATCAAAAGAATCA2758487492TFc.870+3_870+4insCATTTTGGCAAAGACAAATCAAAAGAAT (n.870+3_870+4insCATTTTGGCAAAGACAAATCAAAAGAAT)
c.235+3_235+4insCATTTTGGCAAAGACAAATCAAAAGAAT (n.235+3_235+4insCATTTTGGCAAAGACAAATCAAAAGAAT)
c.738+3_738+4insCATTTTGGCAAAGACAAATCAAAAGAAT (n.738+3_738+4insCATTTTGGCAAAGACAAATCAAAAGAAT)
c.489+3_489+4insCATTTTGGCAAAGACAAATCAAAAGAAT (n.489+3_489+4insCATTTTGGCAAAGACAAATCAAAAGAAT)
3g.133757013delCA2625116TFc.870+4del (n.870+4del)
c.235+4del (n.235+4del)
c.738+4del (n.738+4del)
c.489+4del (n.489+4del)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133757013T>CCA2667764517TFc.870+4T>C (n.870+4T>C)
c.235+4T>C (n.235+4T>C)
c.738+4T>C (n.738+4T>C)
c.489+4T>C (n.489+4T>C)
 gnomAD v4
3g.133757013T>GCA2577907212TFc.870+4T>G (n.870+4T>G)
c.235+4T>G (n.235+4T>G)
c.738+4T>G (n.738+4T>G)
c.489+4T>G (n.489+4T>G)
 gnomAD v4
3g.133757015C>TCA2667764518TFc.870+6C>T (n.870+6C>T)
c.235+6C>T (n.235+6C>T)
c.738+6C>T (n.738+6C>T)
c.489+6C>T (n.489+6C>T)
 gnomAD v4
3g.133757016C>ACA2667764519TFc.870+7C>A (n.870+7C>A)
c.235+7C>A (n.235+7C>A)
c.738+7C>A (n.738+7C>A)
c.489+7C>A (n.489+7C>A)
 gnomAD v4
3g.133757016C=CA1403107497TFc.870+7C= (n.870+7C=)
c.235+7C= (n.235+7C=)
c.738+7C= (n.738+7C=)
c.489+7C= (n.489+7C=)
3g.133757016C>TCA1053728894TFc.870+7C>T (n.870+7C>T)
c.235+7C>T (n.235+7C>T)
c.738+7C>T (n.738+7C>T)
c.489+7C>T (n.489+7C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.133757017C>GCA2667764520TFc.870+8C>G (n.870+8C>G)
c.235+8C>G (n.235+8C>G)
c.738+8C>G (n.738+8C>G)
c.489+8C>G (n.489+8C>G)
 gnomAD v4
3g.133757018A>CCA2667764521TFc.870+9A>C (n.870+9A>C)
c.235+9A>C (n.235+9A>C)
c.738+9A>C (n.738+9A>C)
c.489+9A>C (n.489+9A>C)
 gnomAD v4
3g.133757019C=CA1403107501TFc.870+10C= (n.870+10C=)
c.235+10C= (n.235+10C=)
c.738+10C= (n.738+10C=)
c.489+10C= (n.489+10C=)
3g.133757019C>GCA2739278176TFc.870+10C>G (n.870+10C>G)
c.235+10C>G (n.235+10C>G)
c.738+10C>G (n.738+10C>G)
c.489+10C>G (n.489+10C>G)
 ClinVar
3g.133757019C>TCA546420472TFc.870+10C>T (n.870+10C>T)
c.235+10C>T (n.235+10C>T)
c.738+10C>T (n.738+10C>T)
c.489+10C>T (n.489+10C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.133757022G=CA1403107502TFc.870+13G= (n.870+13G=)
c.235+13G= (n.235+13G=)
c.738+13G= (n.738+13G=)
c.489+13G= (n.489+13G=)
3g.133757022G>TCA899193457TFc.870+13G>T (n.870+13G>T)
c.235+13G>T (n.235+13G>T)
c.738+13G>T (n.738+13G>T)
c.489+13G>T (n.489+13G>T)
 dbSNP gnomAD v3 gnomAD v4
3g.133757023C=CA1403107506TFc.870+14C= (n.870+14C=)
c.235+14C= (n.235+14C=)
c.738+14C= (n.738+14C=)
c.489+14C= (n.489+14C=)
3g.133757023C>TCA1403107507TFc.870+14C>T (n.870+14C>T)
c.235+14C>T (n.235+14C>T)
c.738+14C>T (n.738+14C>T)
c.489+14C>T (n.489+14C>T)
 dbSNP
3g.133757024dupCA2667764522TFc.870+15dup (n.870+15dup)
c.235+15dup (n.235+15dup)
c.738+15dup (n.738+15dup)
c.489+15dup (n.489+15dup)
 gnomAD v4
3g.133757024C=CA1403107508TFc.870+15C= (n.870+15C=)
c.235+15C= (n.235+15C=)
c.738+15C= (n.738+15C=)
c.489+15C= (n.489+15C=)
3g.133757024C>TCA546420473TFc.870+15C>T (n.870+15C>T)
c.235+15C>T (n.235+15C>T)
c.738+15C>T (n.738+15C>T)
c.489+15C>T (n.489+15C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133757028C>ACA2560949691TFc.870+19C>A (n.870+19C>A)
c.235+19C>A (n.235+19C>A)
c.738+19C>A (n.738+19C>A)
c.489+19C>A (n.489+19C>A)
3g.133757028C=CA1403107510TFc.870+19C= (n.870+19C=)
c.235+19C= (n.235+19C=)
c.738+19C= (n.738+19C=)
c.489+19C= (n.489+19C=)
3g.133757028C>TCA2625117TFc.870+19C>T (n.870+19C>T)
c.235+19C>T (n.235+19C>T)
c.738+19C>T (n.738+19C>T)
c.489+19C>T (n.489+19C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133757029T>CCA2667764523TFc.870+20T>C (n.870+20T>C)
c.235+20T>C (n.235+20T>C)
c.738+20T>C (n.738+20T>C)
c.489+20T>C (n.489+20T>C)
 gnomAD v4
3g.133757029T>GCA2667764524TFc.870+20T>G (n.870+20T>G)
c.235+20T>G (n.235+20T>G)
c.738+20T>G (n.738+20T>G)
c.489+20T>G (n.489+20T>G)
 gnomAD v4
3g.133757030C>ACA546420474TFc.870+21C>A (n.870+21C>A)
c.235+21C>A (n.235+21C>A)
c.738+21C>A (n.738+21C>A)
c.489+21C>A (n.489+21C>A)
 dbSNP gnomAD v2 gnomAD v4
3g.133757030C=CA1403107515TFc.870+21C= (n.870+21C=)
c.235+21C= (n.235+21C=)
c.738+21C= (n.738+21C=)
c.489+21C= (n.489+21C=)
3g.133757030C>TCA2667764525TFc.870+21C>T (n.870+21C>T)
c.235+21C>T (n.235+21C>T)
c.738+21C>T (n.738+21C>T)
c.489+21C>T (n.489+21C>T)
 gnomAD v4
3g.133757033delCA2520908348TFc.870+24del (n.870+24del)
c.235+24del (n.235+24del)
c.738+24del (n.738+24del)
c.489+24del (n.489+24del)
3g.133757032C>TCA2667764526TFc.870+23C>T (n.870+23C>T)
c.235+23C>T (n.235+23C>T)
c.738+23C>T (n.738+23C>T)
c.489+23C>T (n.489+23C>T)
 gnomAD v4
3g.133757035C=CA1403107517TFc.870+26C= (n.870+26C=)
c.235+26C= (n.235+26C=)
c.738+26C= (n.738+26C=)
c.489+26C= (n.489+26C=)
3g.133757035C>GCA2625118TFc.870+26C>G (n.870+26C>G)
c.235+26C>G (n.235+26C>G)
c.738+26C>G (n.738+26C>G)
c.489+26C>G (n.489+26C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133757036C>TCA2667764527TFc.870+27C>T (n.870+27C>T)
c.235+27C>T (n.235+27C>T)
c.738+27C>T (n.738+27C>T)
c.489+27C>T (n.489+27C>T)
 gnomAD v4
3g.133757039C>TCA2758487493TFc.870+30C>T (n.870+30C>T)
c.235+30C>T (n.235+30C>T)
c.738+30C>T (n.738+30C>T)
c.489+30C>T (n.489+30C>T)
3g.133757041T>GCA2667764528TFc.870+32T>G (n.870+32T>G)
c.235+32T>G (n.235+32T>G)
c.738+32T>G (n.738+32T>G)
c.489+32T>G (n.489+32T>G)
 gnomAD v4
3g.133757042A=CA1403107520TFc.870+33A= (n.870+33A=)
c.235+33A= (n.235+33A=)
c.738+33A= (n.738+33A=)
c.489+33A= (n.489+33A=)
3g.133757042A>GCA546420475TFc.870+33A>G (n.870+33A>G)
c.235+33A>G (n.235+33A>G)
c.738+33A>G (n.738+33A>G)
c.489+33A>G (n.489+33A>G)
 dbSNP gnomAD v2 gnomAD v4
3g.133757042A>TCA435806701TFc.870+33A>T (n.870+33A>T)
c.235+33A>T (n.235+33A>T)
c.738+33A>T (n.738+33A>T)
c.489+33A>T (n.489+33A>T)
 dbSNP gnomAD v4
3g.133757043G>ACA546420476TFc.870+34G>A (n.870+34G>A)
c.235+34G>A (n.235+34G>A)
c.738+34G>A (n.738+34G>A)
c.489+34G>A (n.489+34G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.133757043G>CCA2667764529TFc.870+34G>C (n.870+34G>C)
c.235+34G>C (n.235+34G>C)
c.738+34G>C (n.738+34G>C)
c.489+34G>C (n.489+34G>C)
 gnomAD v4
3g.133757043G=CA1403107523TFc.870+34G= (n.870+34G=)
c.235+34G= (n.235+34G=)
c.738+34G= (n.738+34G=)
c.489+34G= (n.489+34G=)
3g.133757046C>ACA2577907213TFc.870+37C>A (n.870+37C>A)
c.235+37C>A (n.235+37C>A)
c.738+37C>A (n.738+37C>A)
c.489+37C>A (n.489+37C>A)
3g.133757047T>ACA83674630TFc.870+38T>A (n.870+38T>A)
c.235+38T>A (n.235+38T>A)
c.738+38T>A (n.738+38T>A)
c.489+38T>A (n.489+38T>A)
 dbSNP gnomAD v3 gnomAD v4
3g.133757047T=CA1403107525TFc.870+38T= (n.870+38T=)
c.235+38T= (n.235+38T=)
c.738+38T= (n.738+38T=)
c.489+38T= (n.489+38T=)
3g.133757050C=CA1403107529TFc.870+41C= (n.870+41C=)
c.235+41C= (n.235+41C=)
c.738+41C= (n.738+41C=)
c.489+41C= (n.489+41C=)
3g.133757050C>GCA2625119TFc.870+41C>G (n.870+41C>G)
c.235+41C>G (n.235+41C>G)
c.738+41C>G (n.738+41C>G)
c.489+41C>G (n.489+41C>G)
 dbSNP ExAC gnomAD v2
3g.133757055T>GCA2625120TFc.870+46T>G (n.870+46T>G)
c.235+46T>G (n.235+46T>G)
c.738+46T>G (n.738+46T>G)
c.489+46T>G (n.489+46T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133757055T=CA1403107532TFc.870+46T= (n.870+46T=)
c.235+46T= (n.235+46T=)
c.738+46T= (n.738+46T=)
c.489+46T= (n.489+46T=)
3g.133757056G>CCA546420477TFc.870+47G>C (n.870+47G>C)
c.235+47G>C (n.235+47G>C)
c.738+47G>C (n.738+47G>C)
c.489+47G>C (n.489+47G>C)
 dbSNP gnomAD v2 gnomAD v4
3g.133757056G=CA1403107533TFc.870+47G= (n.870+47G=)
c.235+47G= (n.235+47G=)
c.738+47G= (n.738+47G=)
c.489+47G= (n.489+47G=)
3g.133757056G>TCA2758487494TFc.870+47G>T (n.870+47G>T)
c.235+47G>T (n.235+47G>T)
c.738+47G>T (n.738+47G>T)
c.489+47G>T (n.489+47G>T)
3g.133757060T>ACA2625121TFc.870+51T>A (n.870+51T>A)
c.235+51T>A (n.235+51T>A)
c.738+51T>A (n.738+51T>A)
c.489+51T>A (n.489+51T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133757060T=CA1403107534TFc.870+51T= (n.870+51T=)
c.235+51T= (n.235+51T=)
c.738+51T= (n.738+51T=)
c.489+51T= (n.489+51T=)
3g.133757061_133757062delinsTGCA1403107535TFc.870+52_870+53delinsTG (n.870+52_870+53delinsTG)
c.235+52_235+53delinsTG (n.235+52_235+53delinsTG)
c.738+52_738+53delinsTG (n.738+52_738+53delinsTG)
c.489+52_489+53delinsTG (n.489+52_489+53delinsTG)
3g.133757066delCA1403107536TFc.870+57del (n.870+57del)
c.235+57del (n.235+57del)
c.738+57del (n.738+57del)
c.489+57del (n.489+57del)
 dbSNP
3g.133757063G>ACA2667764530TFc.870+54G>A (n.870+54G>A)
c.235+54G>A (n.235+54G>A)
c.738+54G>A (n.738+54G>A)
c.489+54G>A (n.489+54G>A)
 gnomAD v4
3g.133757064G>ACA2667764531TFc.870+55G>A (n.870+55G>A)
c.235+55G>A (n.235+55G>A)
c.738+55G>A (n.738+55G>A)
c.489+55G>A (n.489+55G>A)
 gnomAD v4
3g.133757065G>ACA83674635TFc.870+56G>A (n.870+56G>A)
c.235+56G>A (n.235+56G>A)
c.738+56G>A (n.738+56G>A)
c.489+56G>A (n.489+56G>A)
 dbSNP gnomAD v4
3g.133757065G=CA1403107538TFc.870+56G= (n.870+56G=)
c.235+56G= (n.235+56G=)
c.738+56G= (n.738+56G=)
c.489+56G= (n.489+56G=)
3g.133757066G>ACA2577907214TFc.870+57G>A (n.870+57G>A)
c.235+57G>A (n.235+57G>A)
c.738+57G>A (n.738+57G>A)
c.489+57G>A (n.489+57G>A)
 gnomAD v4
3g.133757066G=CA1403107541TFc.870+57G= (n.870+57G=)
c.235+57G= (n.235+57G=)
c.738+57G= (n.738+57G=)
c.489+57G= (n.489+57G=)
3g.133757066G>TCA546420498TFc.870+57G>T (n.870+57G>T)
c.235+57G>T (n.235+57G>T)
c.738+57G>T (n.738+57G>T)
c.489+57G>T (n.489+57G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133757067T>ACA2758487495TFc.870+58T>A (n.870+58T>A)
c.235+58T>A (n.235+58T>A)
c.738+58T>A (n.738+58T>A)
c.489+58T>A (n.489+58T>A)
3g.133757067T>CCA2667764533TFc.870+58T>C (n.870+58T>C)
c.235+58T>C (n.235+58T>C)
c.738+58T>C (n.738+58T>C)
c.489+58T>C (n.489+58T>C)
 gnomAD v4
3g.133757070dupCA2667764532TFc.870+61dup (n.870+61dup)
c.235+61dup (n.235+61dup)
c.738+61dup (n.738+61dup)
c.489+61dup (n.489+61dup)
 gnomAD v4

Number of alleles fetched