Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.101413010G>ACA347974459RFX8c.962C>T (p.Ala321Val)
c.623C>T (p.Ala208Val)
c.836C>T (p.Ala279Val)
c.749C>T (p.Ala250Val)
c.*339C>T (n.*339C>T)
c.851C>T (p.Ala284Val)
c.533C>T (p.Ala178Val)
c.335C>T (p.Ala112Val)
c.*36C>T (n.*36C>T)
n.906C>T
c.110C>T (p.Ala37Val)
 gnomAD v4
2g.101413010G>CCA347974461RFX8c.962C>G (p.Ala321Gly)
c.623C>G (p.Ala208Gly)
c.836C>G (p.Ala279Gly)
c.749C>G (p.Ala250Gly)
c.*339C>G (n.*339C>G)
c.851C>G (p.Ala284Gly)
c.533C>G (p.Ala178Gly)
c.335C>G (p.Ala112Gly)
c.*36C>G (n.*36C>G)
n.906C>G
c.110C>G (p.Ala37Gly)
2g.101413010G>TCA347974460RFX8c.962C>A (p.Ala321Asp)
c.623C>A (p.Ala208Asp)
c.836C>A (p.Ala279Asp)
c.749C>A (p.Ala250Asp)
c.*339C>A (n.*339C>A)
c.851C>A (p.Ala284Asp)
c.533C>A (p.Ala178Asp)
c.335C>A (p.Ala112Asp)
c.*36C>A (n.*36C>A)
n.906C>A
c.110C>A (p.Ala37Asp)
2g.101413011C>ACA347974462RFX8c.961G>T (p.Ala321Ser)
c.622G>T (p.Ala208Ser)
c.835G>T (p.Ala279Ser)
c.748G>T (p.Ala250Ser)
c.*338G>T (n.*338G>T)
c.850G>T (p.Ala284Ser)
c.532G>T (p.Ala178Ser)
c.334G>T (p.Ala112Ser)
c.*35G>T (n.*35G>T)
n.905G>T
c.109G>T (p.Ala37Ser)
2g.101413011C>GCA347974463RFX8c.961G>C (p.Ala321Pro)
c.622G>C (p.Ala208Pro)
c.835G>C (p.Ala279Pro)
c.748G>C (p.Ala250Pro)
c.*338G>C (n.*338G>C)
c.850G>C (p.Ala284Pro)
c.532G>C (p.Ala178Pro)
c.334G>C (p.Ala112Pro)
c.*35G>C (n.*35G>C)
n.905G>C
c.109G>C (p.Ala37Pro)
2g.101413011C>TCA347974464RFX8c.961G>A (p.Ala321Thr)
c.622G>A (p.Ala208Thr)
c.835G>A (p.Ala279Thr)
c.748G>A (p.Ala250Thr)
c.*338G>A (n.*338G>A)
c.850G>A (p.Ala284Thr)
c.532G>A (p.Ala178Thr)
c.334G>A (p.Ala112Thr)
c.*35G>A (n.*35G>A)
n.905G>A
c.109G>A (p.Ala37Thr)
 gnomAD v4
2g.101413012C>ACA347974465RFX8c.960G>T (p.Gln320His)
c.621G>T (p.Gln207His)
c.834G>T (p.Gln278His)
c.747G>T (p.Gln249His)
c.*337G>T (n.*337G>T)
c.849G>T (p.Gln283His)
c.531G>T (p.Gln177His)
c.333G>T (p.Gln111His)
c.*34G>T (n.*34G>T)
n.904G>T
c.108G>T (p.Gln36His)
 dbSNP
2g.101413012C=CA1274778610RFX8c.960G= (p.Gln320=)
c.621G= (p.Gln207=)
c.834G= (p.Gln278=)
c.747G= (p.Gln249=)
c.*337G= (n.*337G=)
c.849G= (p.Gln283=)
c.531G= (p.Gln177=)
c.333G= (p.Gln111=)
c.*34G= (n.*34G=)
n.904G=
c.108G= (p.Gln36=)
2g.101413012C>GCA347974466RFX8c.960G>C (p.Gln320His)
c.621G>C (p.Gln207His)
c.834G>C (p.Gln278His)
c.747G>C (p.Gln249His)
c.*337G>C (n.*337G>C)
c.849G>C (p.Gln283His)
c.531G>C (p.Gln177His)
c.333G>C (p.Gln111His)
c.*34G>C (n.*34G>C)
n.904G>C
c.108G>C (p.Gln36His)
2g.101413012C>TCA427793539RFX8c.960G>A (p.Gln320=)
c.621G>A (p.Gln207=)
c.834G>A (p.Gln278=)
c.747G>A (p.Gln249=)
c.*337G>A (n.*337G>A)
c.849G>A (p.Gln283=)
c.531G>A (p.Gln177=)
c.333G>A (p.Gln111=)
c.*34G>A (n.*34G>A)
n.904G>A
c.108G>A (p.Gln36=)
 gnomAD v4
2g.101413013T>ACA347974467RFX8c.959A>T (p.Gln320Leu)
c.620A>T (p.Gln207Leu)
c.833A>T (p.Gln278Leu)
c.746A>T (p.Gln249Leu)
c.*336A>T (n.*336A>T)
c.848A>T (p.Gln283Leu)
c.530A>T (p.Gln177Leu)
c.332A>T (p.Gln111Leu)
c.*33A>T (n.*33A>T)
n.903A>T
c.107A>T (p.Gln36Leu)
2g.101413013T>CCA347974468RFX8c.959A>G (p.Gln320Arg)
c.620A>G (p.Gln207Arg)
c.833A>G (p.Gln278Arg)
c.746A>G (p.Gln249Arg)
c.*336A>G (n.*336A>G)
c.848A>G (p.Gln283Arg)
c.530A>G (p.Gln177Arg)
c.332A>G (p.Gln111Arg)
c.*33A>G (n.*33A>G)
n.903A>G
c.107A>G (p.Gln36Arg)
2g.101413013T>GCA347974469RFX8c.959A>C (p.Gln320Pro)
c.620A>C (p.Gln207Pro)
c.833A>C (p.Gln278Pro)
c.746A>C (p.Gln249Pro)
c.*336A>C (n.*336A>C)
c.848A>C (p.Gln283Pro)
c.530A>C (p.Gln177Pro)
c.332A>C (p.Gln111Pro)
c.*33A>C (n.*33A>C)
n.903A>C
c.107A>C (p.Gln36Pro)
2g.101413014G>ACA347974470RFX8c.958C>T (p.Gln320Ter)
c.619C>T (p.Gln207Ter)
c.832C>T (p.Gln278Ter)
c.745C>T (p.Gln249Ter)
c.*335C>T (n.*335C>T)
c.847C>T (p.Gln283Ter)
c.529C>T (p.Gln177Ter)
c.331C>T (p.Gln111Ter)
c.*32C>T (n.*32C>T)
n.902C>T
c.106C>T (p.Gln36Ter)
 gnomAD v4
2g.101413014G>CCA347974471RFX8c.958C>G (p.Gln320Glu)
c.619C>G (p.Gln207Glu)
c.832C>G (p.Gln278Glu)
c.745C>G (p.Gln249Glu)
c.*335C>G (n.*335C>G)
c.847C>G (p.Gln283Glu)
c.529C>G (p.Gln177Glu)
c.331C>G (p.Gln111Glu)
c.*32C>G (n.*32C>G)
n.902C>G
c.106C>G (p.Gln36Glu)
2g.101413014G>TCA347974472RFX8c.958C>A (p.Gln320Lys)
c.619C>A (p.Gln207Lys)
c.832C>A (p.Gln278Lys)
c.745C>A (p.Gln249Lys)
c.*335C>A (n.*335C>A)
c.847C>A (p.Gln283Lys)
c.529C>A (p.Gln177Lys)
c.331C>A (p.Gln111Lys)
c.*32C>A (n.*32C>A)
n.902C>A
c.106C>A (p.Gln36Lys)
2g.101413015T>ACA427793557RFX8c.957A>T (p.Leu319=)
c.618A>T (p.Leu206=)
c.831A>T (p.Leu277=)
c.744A>T (p.Leu248=)
c.*334A>T (n.*334A>T)
c.846A>T (p.Leu282=)
c.528A>T (p.Leu176=)
c.330A>T (p.Leu110=)
c.*31A>T (n.*31A>T)
n.901A>T
c.105A>T (p.Leu35=)
2g.101413015T>CCA427793559RFX8c.957A>G (p.Leu319=)
c.618A>G (p.Leu206=)
c.831A>G (p.Leu277=)
c.744A>G (p.Leu248=)
c.*334A>G (n.*334A>G)
c.846A>G (p.Leu282=)
c.528A>G (p.Leu176=)
c.330A>G (p.Leu110=)
c.*31A>G (n.*31A>G)
n.901A>G
c.105A>G (p.Leu35=)
 gnomAD v4
2g.101413015T>GCA427793556RFX8c.957A>C (p.Leu319=)
c.618A>C (p.Leu206=)
c.831A>C (p.Leu277=)
c.744A>C (p.Leu248=)
c.*334A>C (n.*334A>C)
c.846A>C (p.Leu282=)
c.528A>C (p.Leu176=)
c.330A>C (p.Leu110=)
c.*31A>C (n.*31A>C)
n.901A>C
c.105A>C (p.Leu35=)
2g.101413015_101413016dupCA2660437696RFX8c.956_957dup (p.Gln320TyrfsTer?)
c.617_618dup (p.Gln207TyrfsTer?)
c.830_831dup (p.Gln278TyrfsTer?)
c.743_744dup (p.Gln249TyrfsTer?)
c.*333_*334dup (n.*333_*334dup)
c.845_846dup (p.Gln283TyrfsTer?)
c.527_528dup (p.Gln177TyrfsTer?)
c.329_330dup (p.Gln111TyrfsTer?)
c.*30_*31dup (n.*30_*31dup)
n.900_901dup
c.104_105dup (p.Gln36TyrfsTer?)
 gnomAD v4
2g.101413016A>CCA347974473RFX8c.956T>G (p.Leu319Arg)
c.617T>G (p.Leu206Arg)
c.830T>G (p.Leu277Arg)
c.743T>G (p.Leu248Arg)
c.*333T>G (n.*333T>G)
c.845T>G (p.Leu282Arg)
c.527T>G (p.Leu176Arg)
c.329T>G (p.Leu110Arg)
c.*30T>G (n.*30T>G)
n.900T>G
c.104T>G (p.Leu35Arg)
2g.101413016A>GCA347974475RFX8c.956T>C (p.Leu319Pro)
c.617T>C (p.Leu206Pro)
c.830T>C (p.Leu277Pro)
c.743T>C (p.Leu248Pro)
c.*333T>C (n.*333T>C)
c.845T>C (p.Leu282Pro)
c.527T>C (p.Leu176Pro)
c.329T>C (p.Leu110Pro)
c.*30T>C (n.*30T>C)
n.900T>C
c.104T>C (p.Leu35Pro)
2g.101413016A>TCA347974474RFX8c.956T>A (p.Leu319Gln)
c.617T>A (p.Leu206Gln)
c.830T>A (p.Leu277Gln)
c.743T>A (p.Leu248Gln)
c.*333T>A (n.*333T>A)
c.845T>A (p.Leu282Gln)
c.527T>A (p.Leu176Gln)
c.329T>A (p.Leu110Gln)
c.*30T>A (n.*30T>A)
n.900T>A
c.104T>A (p.Leu35Gln)
2g.101413017G>ACA427793567RFX8c.955C>T (p.Leu319=)
c.616C>T (p.Leu206=)
c.829C>T (p.Leu277=)
c.742C>T (p.Leu248=)
c.*332C>T (n.*332C>T)
c.844C>T (p.Leu282=)
c.526C>T (p.Leu176=)
c.328C>T (p.Leu110=)
c.*29C>T (n.*29C>T)
n.899C>T
c.103C>T (p.Leu35=)
 dbSNP gnomAD v2
2g.101413017G>CCA347974476RFX8c.955C>G (p.Leu319Val)
c.616C>G (p.Leu206Val)
c.829C>G (p.Leu277Val)
c.742C>G (p.Leu248Val)
c.*332C>G (n.*332C>G)
c.844C>G (p.Leu282Val)
c.526C>G (p.Leu176Val)
c.328C>G (p.Leu110Val)
c.*29C>G (n.*29C>G)
n.899C>G
c.103C>G (p.Leu35Val)
 dbSNP gnomAD v2
2g.101413017G=CA1274778611RFX8c.955C= (p.Leu319=)
c.616C= (p.Leu206=)
c.829C= (p.Leu277=)
c.742C= (p.Leu248=)
c.*332C= (n.*332C=)
c.844C= (p.Leu282=)
c.526C= (p.Leu176=)
c.328C= (p.Leu110=)
c.*29C= (n.*29C=)
n.899C=
c.103C= (p.Leu35=)
2g.101413017G>TCA347974477RFX8c.955C>A (p.Leu319Ile)
c.616C>A (p.Leu206Ile)
c.829C>A (p.Leu277Ile)
c.742C>A (p.Leu248Ile)
c.*332C>A (n.*332C>A)
c.844C>A (p.Leu282Ile)
c.526C>A (p.Leu176Ile)
c.328C>A (p.Leu110Ile)
c.*29C>A (n.*29C>A)
n.899C>A
c.103C>A (p.Leu35Ile)
 dbSNP
2g.101413018A>CCA347974478RFX8c.954T>G (p.Asp318Glu)
c.615T>G (p.Asp205Glu)
c.828T>G (p.Asp276Glu)
c.741T>G (p.Asp247Glu)
c.*331T>G (n.*331T>G)
c.843T>G (p.Asp281Glu)
c.525T>G (p.Asp175Glu)
c.327T>G (p.Asp109Glu)
c.*28T>G (n.*28T>G)
n.898T>G
c.102T>G (p.Asp34Glu)
2g.101413018A>GCA427793574RFX8c.954T>C (p.Asp318=)
c.615T>C (p.Asp205=)
c.828T>C (p.Asp276=)
c.741T>C (p.Asp247=)
c.*331T>C (n.*331T>C)
c.843T>C (p.Asp281=)
c.525T>C (p.Asp175=)
c.327T>C (p.Asp109=)
c.*28T>C (n.*28T>C)
n.898T>C
c.102T>C (p.Asp34=)
2g.101413018A>TCA347974479RFX8c.954T>A (p.Asp318Glu)
c.615T>A (p.Asp205Glu)
c.828T>A (p.Asp276Glu)
c.741T>A (p.Asp247Glu)
c.*331T>A (n.*331T>A)
c.843T>A (p.Asp281Glu)
c.525T>A (p.Asp175Glu)
c.327T>A (p.Asp109Glu)
c.*28T>A (n.*28T>A)
n.898T>A
c.102T>A (p.Asp34Glu)
2g.101413019T>ACA347974480RFX8c.953A>T (p.Asp318Val)
c.614A>T (p.Asp205Val)
c.827A>T (p.Asp276Val)
c.740A>T (p.Asp247Val)
c.*330A>T (n.*330A>T)
c.842A>T (p.Asp281Val)
c.524A>T (p.Asp175Val)
c.326A>T (p.Asp109Val)
c.*27A>T (n.*27A>T)
n.897A>T
c.101A>T (p.Asp34Val)
2g.101413019T>CCA347974481RFX8c.953A>G (p.Asp318Gly)
c.614A>G (p.Asp205Gly)
c.827A>G (p.Asp276Gly)
c.740A>G (p.Asp247Gly)
c.*330A>G (n.*330A>G)
c.842A>G (p.Asp281Gly)
c.524A>G (p.Asp175Gly)
c.326A>G (p.Asp109Gly)
c.*27A>G (n.*27A>G)
n.897A>G
c.101A>G (p.Asp34Gly)
2g.101413019T>GCA347974482RFX8c.953A>C (p.Asp318Ala)
c.614A>C (p.Asp205Ala)
c.827A>C (p.Asp276Ala)
c.740A>C (p.Asp247Ala)
c.*330A>C (n.*330A>C)
c.842A>C (p.Asp281Ala)
c.524A>C (p.Asp175Ala)
c.326A>C (p.Asp109Ala)
c.*27A>C (n.*27A>C)
n.897A>C
c.101A>C (p.Asp34Ala)
2g.101413020C>ACA347974483RFX8c.952G>T (p.Asp318Tyr)
c.613G>T (p.Asp205Tyr)
c.826G>T (p.Asp276Tyr)
c.739G>T (p.Asp247Tyr)
c.*329G>T (n.*329G>T)
c.841G>T (p.Asp281Tyr)
c.523G>T (p.Asp175Tyr)
c.325G>T (p.Asp109Tyr)
c.*26G>T (n.*26G>T)
n.896G>T
c.100G>T (p.Asp34Tyr)
2g.101413020C=CA1274778612RFX8c.952G= (p.Asp318=)
c.613G= (p.Asp205=)
c.826G= (p.Asp276=)
c.739G= (p.Asp247=)
c.*329G= (n.*329G=)
c.841G= (p.Asp281=)
c.523G= (p.Asp175=)
c.325G= (p.Asp109=)
c.*26G= (n.*26G=)
n.896G=
c.100G= (p.Asp34=)
2g.101413020C>GCA347974484RFX8c.952G>C (p.Asp318His)
c.613G>C (p.Asp205His)
c.826G>C (p.Asp276His)
c.739G>C (p.Asp247His)
c.*329G>C (n.*329G>C)
c.841G>C (p.Asp281His)
c.523G>C (p.Asp175His)
c.325G>C (p.Asp109His)
c.*26G>C (n.*26G>C)
n.896G>C
c.100G>C (p.Asp34His)
2g.101413020C>TCA347974485RFX8c.952G>A (p.Asp318Asn)
c.613G>A (p.Asp205Asn)
c.826G>A (p.Asp276Asn)
c.739G>A (p.Asp247Asn)
c.*329G>A (n.*329G>A)
c.841G>A (p.Asp281Asn)
c.523G>A (p.Asp175Asn)
c.325G>A (p.Asp109Asn)
c.*26G>A (n.*26G>A)
n.896G>A
c.100G>A (p.Asp34Asn)
 dbSNP gnomAD v4
2g.101413021T>ACA427793594RFX8c.951A>T (p.Ser317=)
c.612A>T (p.Ser204=)
c.825A>T (p.Ser275=)
c.738A>T (p.Ser246=)
c.*328A>T (n.*328A>T)
c.840A>T (p.Ser280=)
c.522A>T (p.Ser174=)
c.324A>T (p.Ser108=)
c.*25A>T (n.*25A>T)
n.895A>T
c.99A>T (p.Ser33=)
2g.101413021T>CCA427793601RFX8c.951A>G (p.Ser317=)
c.612A>G (p.Ser204=)
c.825A>G (p.Ser275=)
c.738A>G (p.Ser246=)
c.*328A>G (n.*328A>G)
c.840A>G (p.Ser280=)
c.522A>G (p.Ser174=)
c.324A>G (p.Ser108=)
c.*25A>G (n.*25A>G)
n.895A>G
c.99A>G (p.Ser33=)
2g.101413021T>GCA427793598RFX8c.951A>C (p.Ser317=)
c.612A>C (p.Ser204=)
c.825A>C (p.Ser275=)
c.738A>C (p.Ser246=)
c.*328A>C (n.*328A>C)
c.840A>C (p.Ser280=)
c.522A>C (p.Ser174=)
c.324A>C (p.Ser108=)
c.*25A>C (n.*25A>C)
n.895A>C
c.99A>C (p.Ser33=)
2g.101413022G>ACA347974486RFX8c.950C>T (p.Ser317Leu)
c.611C>T (p.Ser204Leu)
c.824C>T (p.Ser275Leu)
c.737C>T (p.Ser246Leu)
c.*327C>T (n.*327C>T)
c.839C>T (p.Ser280Leu)
c.521C>T (p.Ser174Leu)
c.323C>T (p.Ser108Leu)
c.*24C>T (n.*24C>T)
n.894C>T
c.98C>T (p.Ser33Leu)
 dbSNP gnomAD v4
2g.101413022G>CCA347974487RFX8c.950C>G (p.Ser317Ter)
c.611C>G (p.Ser204Ter)
c.824C>G (p.Ser275Ter)
c.737C>G (p.Ser246Ter)
c.*327C>G (n.*327C>G)
c.839C>G (p.Ser280Ter)
c.521C>G (p.Ser174Ter)
c.323C>G (p.Ser108Ter)
c.*24C>G (n.*24C>G)
n.894C>G
c.98C>G (p.Ser33Ter)
2g.101413022G=CA1274778613RFX8c.950C= (p.Ser317=)
c.611C= (p.Ser204=)
c.824C= (p.Ser275=)
c.737C= (p.Ser246=)
c.*327C= (n.*327C=)
c.839C= (p.Ser280=)
c.521C= (p.Ser174=)
c.323C= (p.Ser108=)
c.*24C= (n.*24C=)
n.894C=
c.98C= (p.Ser33=)
2g.101413022G>TCA347974488RFX8c.950C>A (p.Ser317Ter)
c.611C>A (p.Ser204Ter)
c.824C>A (p.Ser275Ter)
c.737C>A (p.Ser246Ter)
c.*327C>A (n.*327C>A)
c.839C>A (p.Ser280Ter)
c.521C>A (p.Ser174Ter)
c.323C>A (p.Ser108Ter)
c.*24C>A (n.*24C>A)
n.894C>A
c.98C>A (p.Ser33Ter)
 gnomAD v4
2g.101413023A>CCA347974491RFX8c.949T>G (p.Ser317Ala)
c.610T>G (p.Ser204Ala)
c.823T>G (p.Ser275Ala)
c.736T>G (p.Ser246Ala)
c.*326T>G (n.*326T>G)
c.838T>G (p.Ser280Ala)
c.520T>G (p.Ser174Ala)
c.322T>G (p.Ser108Ala)
c.*23T>G (n.*23T>G)
n.893T>G
c.97T>G (p.Ser33Ala)
2g.101413023A>GCA347974490RFX8c.949T>C (p.Ser317Pro)
c.610T>C (p.Ser204Pro)
c.823T>C (p.Ser275Pro)
c.736T>C (p.Ser246Pro)
c.*326T>C (n.*326T>C)
c.838T>C (p.Ser280Pro)
c.520T>C (p.Ser174Pro)
c.322T>C (p.Ser108Pro)
c.*23T>C (n.*23T>C)
n.893T>C
c.97T>C (p.Ser33Pro)
2g.101413023A>TCA347974489RFX8c.949T>A (p.Ser317Thr)
c.610T>A (p.Ser204Thr)
c.823T>A (p.Ser275Thr)
c.736T>A (p.Ser246Thr)
c.*326T>A (n.*326T>A)
c.838T>A (p.Ser280Thr)
c.520T>A (p.Ser174Thr)
c.322T>A (p.Ser108Thr)
c.*23T>A (n.*23T>A)
n.893T>A
c.97T>A (p.Ser33Thr)
2g.101413024C>ACA347974492RFX8c.948G>T (p.Lys316Asn)
c.609G>T (p.Lys203Asn)
c.822G>T (p.Lys274Asn)
c.735G>T (p.Lys245Asn)
c.*325G>T (n.*325G>T)
c.837G>T (p.Lys279Asn)
c.519G>T (p.Lys173Asn)
c.321G>T (p.Lys107Asn)
c.*22G>T (n.*22G>T)
n.892G>T
c.96G>T (p.Lys32Asn)
2g.101413024C=CA1274778614RFX8c.948G= (p.Lys316=)
c.609G= (p.Lys203=)
c.822G= (p.Lys274=)
c.735G= (p.Lys245=)
c.*325G= (n.*325G=)
c.837G= (p.Lys279=)
c.519G= (p.Lys173=)
c.321G= (p.Lys107=)
c.*22G= (n.*22G=)
n.892G=
c.96G= (p.Lys32=)
2g.101413024C>GCA347974493RFX8c.948G>C (p.Lys316Asn)
c.609G>C (p.Lys203Asn)
c.822G>C (p.Lys274Asn)
c.735G>C (p.Lys245Asn)
c.*325G>C (n.*325G>C)
c.837G>C (p.Lys279Asn)
c.519G>C (p.Lys173Asn)
c.321G>C (p.Lys107Asn)
c.*22G>C (n.*22G>C)
n.892G>C
c.96G>C (p.Lys32Asn)
2g.101413024C>TCA427793624RFX8c.948G>A (p.Lys316=)
c.609G>A (p.Lys203=)
c.822G>A (p.Lys274=)
c.735G>A (p.Lys245=)
c.*325G>A (n.*325G>A)
c.837G>A (p.Lys279=)
c.519G>A (p.Lys173=)
c.321G>A (p.Lys107=)
c.*22G>A (n.*22G>A)
n.892G>A
c.96G>A (p.Lys32=)
 dbSNP gnomAD v3 gnomAD v4
2g.101413025T>ACA347974494RFX8c.947A>T (p.Lys316Met)
c.608A>T (p.Lys203Met)
c.821A>T (p.Lys274Met)
c.734A>T (p.Lys245Met)
c.*324A>T (n.*324A>T)
c.836A>T (p.Lys279Met)
c.518A>T (p.Lys173Met)
c.320A>T (p.Lys107Met)
c.*21A>T (n.*21A>T)
n.891A>T
c.95A>T (p.Lys32Met)
2g.101413025T>CCA347974495RFX8c.947A>G (p.Lys316Arg)
c.608A>G (p.Lys203Arg)
c.821A>G (p.Lys274Arg)
c.734A>G (p.Lys245Arg)
c.*324A>G (n.*324A>G)
c.836A>G (p.Lys279Arg)
c.518A>G (p.Lys173Arg)
c.320A>G (p.Lys107Arg)
c.*21A>G (n.*21A>G)
n.891A>G
c.95A>G (p.Lys32Arg)
2g.101413025T>GCA347974496RFX8c.947A>C (p.Lys316Thr)
c.608A>C (p.Lys203Thr)
c.821A>C (p.Lys274Thr)
c.734A>C (p.Lys245Thr)
c.*324A>C (n.*324A>C)
c.836A>C (p.Lys279Thr)
c.518A>C (p.Lys173Thr)
c.320A>C (p.Lys107Thr)
c.*21A>C (n.*21A>C)
n.891A>C
c.95A>C (p.Lys32Thr)
2g.101413026T>ACA347974497RFX8c.946A>T (p.Lys316Ter)
c.607A>T (p.Lys203Ter)
c.820A>T (p.Lys274Ter)
c.733A>T (p.Lys245Ter)
c.*323A>T (n.*323A>T)
c.835A>T (p.Lys279Ter)
c.517A>T (p.Lys173Ter)
c.319A>T (p.Lys107Ter)
c.*20A>T (n.*20A>T)
n.890A>T
c.94A>T (p.Lys32Ter)
2g.101413026T>CCA347974498RFX8c.946A>G (p.Lys316Glu)
c.607A>G (p.Lys203Glu)
c.820A>G (p.Lys274Glu)
c.733A>G (p.Lys245Glu)
c.*323A>G (n.*323A>G)
c.835A>G (p.Lys279Glu)
c.517A>G (p.Lys173Glu)
c.319A>G (p.Lys107Glu)
c.*20A>G (n.*20A>G)
n.890A>G
c.94A>G (p.Lys32Glu)
2g.101413026T>GCA347974499RFX8c.946A>C (p.Lys316Gln)
c.607A>C (p.Lys203Gln)
c.820A>C (p.Lys274Gln)
c.733A>C (p.Lys245Gln)
c.*323A>C (n.*323A>C)
c.835A>C (p.Lys279Gln)
c.517A>C (p.Lys173Gln)
c.319A>C (p.Lys107Gln)
c.*20A>C (n.*20A>C)
n.890A>C
c.94A>C (p.Lys32Gln)
2g.101413027C>ACA347974500RFX8c.945G>T (p.Leu315Phe)
c.606G>T (p.Leu202Phe)
c.819G>T (p.Leu273Phe)
c.732G>T (p.Leu244Phe)
c.*322G>T (n.*322G>T)
c.834G>T (p.Leu278Phe)
c.516G>T (p.Leu172Phe)
c.318G>T (p.Leu106Phe)
c.*19G>T (n.*19G>T)
n.889G>T
c.93G>T (p.Leu31Phe)
2g.101413027C=CA1274778615RFX8c.945G= (p.Leu315=)
c.606G= (p.Leu202=)
c.819G= (p.Leu273=)
c.732G= (p.Leu244=)
c.*322G= (n.*322G=)
c.834G= (p.Leu278=)
c.516G= (p.Leu172=)
c.318G= (p.Leu106=)
c.*19G= (n.*19G=)
n.889G=
c.93G= (p.Leu31=)
2g.101413027C>GCA1806433RFX8c.945G>C (p.Leu315Phe)
c.606G>C (p.Leu202Phe)
c.819G>C (p.Leu273Phe)
c.732G>C (p.Leu244Phe)
c.*322G>C (n.*322G>C)
c.834G>C (p.Leu278Phe)
c.516G>C (p.Leu172Phe)
c.318G>C (p.Leu106Phe)
c.*19G>C (n.*19G>C)
n.889G>C
c.93G>C (p.Leu31Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.101413027C>TCA427793639RFX8c.945G>A (p.Leu315=)
c.606G>A (p.Leu202=)
c.819G>A (p.Leu273=)
c.732G>A (p.Leu244=)
c.*322G>A (n.*322G>A)
c.834G>A (p.Leu278=)
c.516G>A (p.Leu172=)
c.318G>A (p.Leu106=)
c.*19G>A (n.*19G>A)
n.889G>A
c.93G>A (p.Leu31=)
2g.101413028A>CCA347974501RFX8c.944T>G (p.Leu315Trp)
c.605T>G (p.Leu202Trp)
c.818T>G (p.Leu273Trp)
c.731T>G (p.Leu244Trp)
c.*321T>G (n.*321T>G)
c.833T>G (p.Leu278Trp)
c.515T>G (p.Leu172Trp)
c.317T>G (p.Leu106Trp)
c.*18T>G (n.*18T>G)
n.888T>G
c.92T>G (p.Leu31Trp)
2g.101413028A>GCA347974502RFX8c.944T>C (p.Leu315Ser)
c.605T>C (p.Leu202Ser)
c.818T>C (p.Leu273Ser)
c.731T>C (p.Leu244Ser)
c.*321T>C (n.*321T>C)
c.833T>C (p.Leu278Ser)
c.515T>C (p.Leu172Ser)
c.317T>C (p.Leu106Ser)
c.*18T>C (n.*18T>C)
n.888T>C
c.92T>C (p.Leu31Ser)
 gnomAD v4
2g.101413028A>TCA347974503RFX8c.944T>A (p.Leu315Ter)
c.605T>A (p.Leu202Ter)
c.818T>A (p.Leu273Ter)
c.731T>A (p.Leu244Ter)
c.*321T>A (n.*321T>A)
c.833T>A (p.Leu278Ter)
c.515T>A (p.Leu172Ter)
c.317T>A (p.Leu106Ter)
c.*18T>A (n.*18T>A)
n.888T>A
c.92T>A (p.Leu31Ter)
2g.101413029A>CCA347974505RFX8c.943T>G (p.Leu315Val)
c.604T>G (p.Leu202Val)
c.817T>G (p.Leu273Val)
c.730T>G (p.Leu244Val)
c.*320T>G (n.*320T>G)
c.832T>G (p.Leu278Val)
c.514T>G (p.Leu172Val)
c.316T>G (p.Leu106Val)
c.*17T>G (n.*17T>G)
n.887T>G
c.91T>G (p.Leu31Val)
2g.101413029A>GCA427793656RFX8c.943T>C (p.Leu315=)
c.604T>C (p.Leu202=)
c.817T>C (p.Leu273=)
c.730T>C (p.Leu244=)
c.*320T>C (n.*320T>C)
c.832T>C (p.Leu278=)
c.514T>C (p.Leu172=)
c.316T>C (p.Leu106=)
c.*17T>C (n.*17T>C)
n.887T>C
c.91T>C (p.Leu31=)
2g.101413029A>TCA347974504RFX8c.943T>A (p.Leu315Met)
c.604T>A (p.Leu202Met)
c.817T>A (p.Leu273Met)
c.730T>A (p.Leu244Met)
c.*320T>A (n.*320T>A)
c.832T>A (p.Leu278Met)
c.514T>A (p.Leu172Met)
c.316T>A (p.Leu106Met)
c.*17T>A (n.*17T>A)
n.887T>A
c.91T>A (p.Leu31Met)
2g.101413030A>CCA427793661RFX8c.942T>G (p.Val314=)
c.603T>G (p.Val201=)
c.816T>G (p.Val272=)
c.729T>G (p.Val243=)
c.*319T>G (n.*319T>G)
c.831T>G (p.Val277=)
c.513T>G (p.Val171=)
c.315T>G (p.Val105=)
c.*16T>G (n.*16T>G)
n.886T>G
c.90T>G (p.Val30=)
2g.101413030A>GCA427793664RFX8c.942T>C (p.Val314=)
c.603T>C (p.Val201=)
c.816T>C (p.Val272=)
c.729T>C (p.Val243=)
c.*319T>C (n.*319T>C)
c.831T>C (p.Val277=)
c.513T>C (p.Val171=)
c.315T>C (p.Val105=)
c.*16T>C (n.*16T>C)
n.886T>C
c.90T>C (p.Val30=)
2g.101413030A>TCA427793666RFX8c.942T>A (p.Val314=)
c.603T>A (p.Val201=)
c.816T>A (p.Val272=)
c.729T>A (p.Val243=)
c.*319T>A (n.*319T>A)
c.831T>A (p.Val277=)
c.513T>A (p.Val171=)
c.315T>A (p.Val105=)
c.*16T>A (n.*16T>A)
n.886T>A
c.90T>A (p.Val30=)
2g.101413031A>CCA347974506RFX8c.941T>G (p.Val314Gly)
c.602T>G (p.Val201Gly)
c.815T>G (p.Val272Gly)
c.728T>G (p.Val243Gly)
c.*318T>G (n.*318T>G)
c.830T>G (p.Val277Gly)
c.512T>G (p.Val171Gly)
c.314T>G (p.Val105Gly)
c.*15T>G (n.*15T>G)
n.885T>G
c.89T>G (p.Val30Gly)
2g.101413031A>GCA347974507RFX8c.941T>C (p.Val314Ala)
c.602T>C (p.Val201Ala)
c.815T>C (p.Val272Ala)
c.728T>C (p.Val243Ala)
c.*318T>C (n.*318T>C)
c.830T>C (p.Val277Ala)
c.512T>C (p.Val171Ala)
c.314T>C (p.Val105Ala)
c.*15T>C (n.*15T>C)
n.885T>C
c.89T>C (p.Val30Ala)
2g.101413031A>TCA347974508RFX8c.941T>A (p.Val314Asp)
c.602T>A (p.Val201Asp)
c.815T>A (p.Val272Asp)
c.728T>A (p.Val243Asp)
c.*318T>A (n.*318T>A)
c.830T>A (p.Val277Asp)
c.512T>A (p.Val171Asp)
c.314T>A (p.Val105Asp)
c.*15T>A (n.*15T>A)
n.885T>A
c.89T>A (p.Val30Asp)
2g.101413032C>ACA347974509RFX8c.940G>T (p.Val314Phe)
c.601G>T (p.Val201Phe)
c.814G>T (p.Val272Phe)
c.727G>T (p.Val243Phe)
c.*317G>T (n.*317G>T)
c.829G>T (p.Val277Phe)
c.511G>T (p.Val171Phe)
c.313G>T (p.Val105Phe)
c.*14G>T (n.*14G>T)
n.884G>T
c.88G>T (p.Val30Phe)
2g.101413032C=CA1274778616RFX8c.940G= (p.Val314=)
c.601G= (p.Val201=)
c.814G= (p.Val272=)
c.727G= (p.Val243=)
c.*317G= (n.*317G=)
c.829G= (p.Val277=)
c.511G= (p.Val171=)
c.313G= (p.Val105=)
c.*14G= (n.*14G=)
n.884G=
c.88G= (p.Val30=)
2g.101413032C>GCA347974510RFX8c.940G>C (p.Val314Leu)
c.601G>C (p.Val201Leu)
c.814G>C (p.Val272Leu)
c.727G>C (p.Val243Leu)
c.*317G>C (n.*317G>C)
c.829G>C (p.Val277Leu)
c.511G>C (p.Val171Leu)
c.313G>C (p.Val105Leu)
c.*14G>C (n.*14G>C)
n.884G>C
c.88G>C (p.Val30Leu)
2g.101413032C>TCA53230250RFX8c.940G>A (p.Val314Ile)
c.601G>A (p.Val201Ile)
c.814G>A (p.Val272Ile)
c.727G>A (p.Val243Ile)
c.*317G>A (n.*317G>A)
c.829G>A (p.Val277Ile)
c.511G>A (p.Val171Ile)
c.313G>A (p.Val105Ile)
c.*14G>A (n.*14G>A)
n.884G>A
c.88G>A (p.Val30Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.101413033G>ACA427793685RFX8c.939C>T (p.Ser313=)
c.600C>T (p.Ser200=)
c.813C>T (p.Ser271=)
c.726C>T (p.Ser242=)
c.*316C>T (n.*316C>T)
c.828C>T (p.Ser276=)
c.510C>T (p.Ser170=)
c.312C>T (p.Ser104=)
c.*13C>T (n.*13C>T)
n.883C>T
c.87C>T (p.Ser29=)
 gnomAD v4
2g.101413033G>CCA347974512RFX8c.939C>G (p.Ser313Arg)
c.600C>G (p.Ser200Arg)
c.813C>G (p.Ser271Arg)
c.726C>G (p.Ser242Arg)
c.*316C>G (n.*316C>G)
c.828C>G (p.Ser276Arg)
c.510C>G (p.Ser170Arg)
c.312C>G (p.Ser104Arg)
c.*13C>G (n.*13C>G)
n.883C>G
c.87C>G (p.Ser29Arg)
2g.101413033G>TCA347974511RFX8c.939C>A (p.Ser313Arg)
c.600C>A (p.Ser200Arg)
c.813C>A (p.Ser271Arg)
c.726C>A (p.Ser242Arg)
c.*316C>A (n.*316C>A)
c.828C>A (p.Ser276Arg)
c.510C>A (p.Ser170Arg)
c.312C>A (p.Ser104Arg)
c.*13C>A (n.*13C>A)
n.883C>A
c.87C>A (p.Ser29Arg)
2g.101413034C>ACA347974513RFX8c.938G>T (p.Ser313Ile)
c.599G>T (p.Ser200Ile)
c.812G>T (p.Ser271Ile)
c.725G>T (p.Ser242Ile)
c.*315G>T (n.*315G>T)
c.827G>T (p.Ser276Ile)
c.509G>T (p.Ser170Ile)
c.311G>T (p.Ser104Ile)
c.*12G>T (n.*12G>T)
n.882G>T
c.86G>T (p.Ser29Ile)
2g.101413034C>GCA347974514RFX8c.938G>C (p.Ser313Thr)
c.599G>C (p.Ser200Thr)
c.812G>C (p.Ser271Thr)
c.725G>C (p.Ser242Thr)
c.*315G>C (n.*315G>C)
c.827G>C (p.Ser276Thr)
c.509G>C (p.Ser170Thr)
c.311G>C (p.Ser104Thr)
c.*12G>C (n.*12G>C)
n.882G>C
c.86G>C (p.Ser29Thr)
2g.101413034C>TCA347974515RFX8c.938G>A (p.Ser313Asn)
c.599G>A (p.Ser200Asn)
c.812G>A (p.Ser271Asn)
c.725G>A (p.Ser242Asn)
c.*315G>A (n.*315G>A)
c.827G>A (p.Ser276Asn)
c.509G>A (p.Ser170Asn)
c.311G>A (p.Ser104Asn)
c.*12G>A (n.*12G>A)
n.882G>A
c.86G>A (p.Ser29Asn)
 gnomAD v4
2g.101413035T>ACA347974516RFX8c.937A>T (p.Ser313Cys)
c.598A>T (p.Ser200Cys)
c.811A>T (p.Ser271Cys)
c.724A>T (p.Ser242Cys)
c.*314A>T (n.*314A>T)
c.826A>T (p.Ser276Cys)
c.508A>T (p.Ser170Cys)
c.310A>T (p.Ser104Cys)
c.*11A>T (n.*11A>T)
n.881A>T
c.85A>T (p.Ser29Cys)
2g.101413035T>CCA347974517RFX8c.937A>G (p.Ser313Gly)
c.598A>G (p.Ser200Gly)
c.811A>G (p.Ser271Gly)
c.724A>G (p.Ser242Gly)
c.*314A>G (n.*314A>G)
c.826A>G (p.Ser276Gly)
c.508A>G (p.Ser170Gly)
c.310A>G (p.Ser104Gly)
c.*11A>G (n.*11A>G)
n.881A>G
c.85A>G (p.Ser29Gly)
2g.101413035T>GCA347974518RFX8c.937A>C (p.Ser313Arg)
c.598A>C (p.Ser200Arg)
c.811A>C (p.Ser271Arg)
c.724A>C (p.Ser242Arg)
c.*314A>C (n.*314A>C)
c.826A>C (p.Ser276Arg)
c.508A>C (p.Ser170Arg)
c.310A>C (p.Ser104Arg)
c.*11A>C (n.*11A>C)
n.881A>C
c.85A>C (p.Ser29Arg)
2g.101413036G>ACA427793732RFX8c.936C>T (p.Val312=)
c.597C>T (p.Val199=)
c.810C>T (p.Val270=)
c.723C>T (p.Val241=)
c.*313C>T (n.*313C>T)
c.825C>T (p.Val275=)
c.507C>T (p.Val169=)
c.309C>T (p.Val103=)
c.*10C>T (n.*10C>T)
n.880C>T
c.84C>T (p.Val28=)
2g.101413036G>CCA427793729RFX8c.936C>G (p.Val312=)
c.597C>G (p.Val199=)
c.810C>G (p.Val270=)
c.723C>G (p.Val241=)
c.*313C>G (n.*313C>G)
c.825C>G (p.Val275=)
c.507C>G (p.Val169=)
c.309C>G (p.Val103=)
c.*10C>G (n.*10C>G)
n.880C>G
c.84C>G (p.Val28=)
 gnomAD v4
2g.101413036G>TCA427793719RFX8c.936C>A (p.Val312=)
c.597C>A (p.Val199=)
c.810C>A (p.Val270=)
c.723C>A (p.Val241=)
c.*313C>A (n.*313C>A)
c.825C>A (p.Val275=)
c.507C>A (p.Val169=)
c.309C>A (p.Val103=)
c.*10C>A (n.*10C>A)
n.880C>A
c.84C>A (p.Val28=)
 gnomAD v4
2g.101413037A=CA1274778617RFX8c.935T= (p.Val312=)
c.596T= (p.Val199=)
c.809T= (p.Val270=)
c.722T= (p.Val241=)
c.*312T= (n.*312T=)
c.824T= (p.Val275=)
c.506T= (p.Val169=)
c.308T= (p.Val103=)
c.*9T= (n.*9T=)
n.879T=
c.83T= (p.Val28=)
2g.101413037A>CCA347974519RFX8c.935T>G (p.Val312Gly)
c.596T>G (p.Val199Gly)
c.809T>G (p.Val270Gly)
c.722T>G (p.Val241Gly)
c.*312T>G (n.*312T>G)
c.824T>G (p.Val275Gly)
c.506T>G (p.Val169Gly)
c.308T>G (p.Val103Gly)
c.*9T>G (n.*9T>G)
n.879T>G
c.83T>G (p.Val28Gly)
2g.101413037A>GCA347974521RFX8c.935T>C (p.Val312Ala)
c.596T>C (p.Val199Ala)
c.809T>C (p.Val270Ala)
c.722T>C (p.Val241Ala)
c.*312T>C (n.*312T>C)
c.824T>C (p.Val275Ala)
c.506T>C (p.Val169Ala)
c.308T>C (p.Val103Ala)
c.*9T>C (n.*9T>C)
n.879T>C
c.83T>C (p.Val28Ala)
 gnomAD v4
2g.101413037A>TCA347974520RFX8c.935T>A (p.Val312Asp)
c.596T>A (p.Val199Asp)
c.809T>A (p.Val270Asp)
c.722T>A (p.Val241Asp)
c.*312T>A (n.*312T>A)
c.824T>A (p.Val275Asp)
c.506T>A (p.Val169Asp)
c.308T>A (p.Val103Asp)
c.*9T>A (n.*9T>A)
n.879T>A
c.83T>A (p.Val28Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.101413038C>ACA347974522RFX8c.934G>T (p.Val312Phe)
c.595G>T (p.Val199Phe)
c.808G>T (p.Val270Phe)
c.721G>T (p.Val241Phe)
c.*311G>T (n.*311G>T)
c.823G>T (p.Val275Phe)
c.505G>T (p.Val169Phe)
c.307G>T (p.Val103Phe)
c.*8G>T (n.*8G>T)
n.878G>T
c.82G>T (p.Val28Phe)
2g.101413038C>GCA347974523RFX8c.934G>C (p.Val312Leu)
c.595G>C (p.Val199Leu)
c.808G>C (p.Val270Leu)
c.721G>C (p.Val241Leu)
c.*311G>C (n.*311G>C)
c.823G>C (p.Val275Leu)
c.505G>C (p.Val169Leu)
c.307G>C (p.Val103Leu)
c.*8G>C (n.*8G>C)
n.878G>C
c.82G>C (p.Val28Leu)
2g.101413038C>TCA347974524RFX8c.934G>A (p.Val312Ile)
c.595G>A (p.Val199Ile)
c.808G>A (p.Val270Ile)
c.721G>A (p.Val241Ile)
c.*311G>A (n.*311G>A)
c.823G>A (p.Val275Ile)
c.505G>A (p.Val169Ile)
c.307G>A (p.Val103Ile)
c.*8G>A (n.*8G>A)
n.878G>A
c.82G>A (p.Val28Ile)
2g.101413039A=CA1274778618RFX8c.933T= (p.Arg311=)
c.594T= (p.Arg198=)
c.807T= (p.Arg269=)
c.720T= (p.Arg240=)
c.*310T= (n.*310T=)
c.822T= (p.Arg274=)
c.504T= (p.Arg168=)
c.306T= (p.Arg102=)
c.*7T= (n.*7T=)
n.877T=
c.81T= (p.Arg27=)
2g.101413039A>CCA427793748RFX8c.933T>G (p.Arg311=)
c.594T>G (p.Arg198=)
c.807T>G (p.Arg269=)
c.720T>G (p.Arg240=)
c.*310T>G (n.*310T>G)
c.822T>G (p.Arg274=)
c.504T>G (p.Arg168=)
c.306T>G (p.Arg102=)
c.*7T>G (n.*7T>G)
n.877T>G
c.81T>G (p.Arg27=)
2g.101413039A>GCA427793756RFX8c.933T>C (p.Arg311=)
c.594T>C (p.Arg198=)
c.807T>C (p.Arg269=)
c.720T>C (p.Arg240=)
c.*310T>C (n.*310T>C)
c.822T>C (p.Arg274=)
c.504T>C (p.Arg168=)
c.306T>C (p.Arg102=)
c.*7T>C (n.*7T>C)
n.877T>C
c.81T>C (p.Arg27=)
2g.101413039A>TCA427793752RFX8c.933T>A (p.Arg311=)
c.594T>A (p.Arg198=)
c.807T>A (p.Arg269=)
c.720T>A (p.Arg240=)
c.*310T>A (n.*310T>A)
c.822T>A (p.Arg274=)
c.504T>A (p.Arg168=)
c.306T>A (p.Arg102=)
c.*7T>A (n.*7T>A)
n.877T>A
c.81T>A (p.Arg27=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.101413040C>ACA347974525RFX8c.932G>T (p.Arg311Leu)
c.593G>T (p.Arg198Leu)
c.806G>T (p.Arg269Leu)
c.719G>T (p.Arg240Leu)
c.*309G>T (n.*309G>T)
c.821G>T (p.Arg274Leu)
c.503G>T (p.Arg168Leu)
c.305G>T (p.Arg102Leu)
c.*6G>T (n.*6G>T)
n.876G>T
c.80G>T (p.Arg27Leu)
2g.101413040C=CA1274778619RFX8c.932G= (p.Arg311=)
c.593G= (p.Arg198=)
c.806G= (p.Arg269=)
c.719G= (p.Arg240=)
c.*309G= (n.*309G=)
c.821G= (p.Arg274=)
c.503G= (p.Arg168=)
c.305G= (p.Arg102=)
c.*6G= (n.*6G=)
n.876G=
c.80G= (p.Arg27=)
2g.101413040C>GCA347974526RFX8c.932G>C (p.Arg311Pro)
c.593G>C (p.Arg198Pro)
c.806G>C (p.Arg269Pro)
c.719G>C (p.Arg240Pro)
c.*309G>C (n.*309G>C)
c.821G>C (p.Arg274Pro)
c.503G>C (p.Arg168Pro)
c.305G>C (p.Arg102Pro)
c.*6G>C (n.*6G>C)
n.876G>C
c.80G>C (p.Arg27Pro)
2g.101413040C>TCA53230252RFX8c.932G>A (p.Arg311His)
c.593G>A (p.Arg198His)
c.806G>A (p.Arg269His)
c.719G>A (p.Arg240His)
c.*309G>A (n.*309G>A)
c.821G>A (p.Arg274His)
c.503G>A (p.Arg168His)
c.305G>A (p.Arg102His)
c.*6G>A (n.*6G>A)
n.876G>A
c.80G>A (p.Arg27His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.101413041G>ACA347974527RFX8c.931C>T (p.Arg311Cys)
c.592C>T (p.Arg198Cys)
c.805C>T (p.Arg269Cys)
c.718C>T (p.Arg240Cys)
c.*308C>T (n.*308C>T)
c.820C>T (p.Arg274Cys)
c.502C>T (p.Arg168Cys)
c.304C>T (p.Arg102Cys)
c.*5C>T (n.*5C>T)
n.875C>T
c.79C>T (p.Arg27Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.101413041G>CCA347974528RFX8c.931C>G (p.Arg311Gly)
c.592C>G (p.Arg198Gly)
c.805C>G (p.Arg269Gly)
c.718C>G (p.Arg240Gly)
c.*308C>G (n.*308C>G)
c.820C>G (p.Arg274Gly)
c.502C>G (p.Arg168Gly)
c.304C>G (p.Arg102Gly)
c.*5C>G (n.*5C>G)
n.875C>G
c.79C>G (p.Arg27Gly)
2g.101413041G=CA1274778620RFX8c.931C= (p.Arg311=)
c.592C= (p.Arg198=)
c.805C= (p.Arg269=)
c.718C= (p.Arg240=)
c.*308C= (n.*308C=)
c.820C= (p.Arg274=)
c.502C= (p.Arg168=)
c.304C= (p.Arg102=)
c.*5C= (n.*5C=)
n.875C=
c.79C= (p.Arg27=)
2g.101413041G>TCA347974529RFX8c.931C>A (p.Arg311Ser)
c.592C>A (p.Arg198Ser)
c.805C>A (p.Arg269Ser)
c.718C>A (p.Arg240Ser)
c.*308C>A (n.*308C>A)
c.820C>A (p.Arg274Ser)
c.502C>A (p.Arg168Ser)
c.304C>A (p.Arg102Ser)
c.*5C>A (n.*5C>A)
n.875C>A
c.79C>A (p.Arg27Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.101413042C>ACA347974530RFX8c.930G>T (p.Arg310Ser)
c.591G>T (p.Arg197Ser)
c.804G>T (p.Arg268Ser)
c.717G>T (p.Arg239Ser)
c.*307G>T (n.*307G>T)
c.819G>T (p.Arg273Ser)
c.501G>T (p.Arg167Ser)
c.303G>T (p.Arg101Ser)
c.*4G>T (n.*4G>T)
n.874G>T
c.78G>T (p.Arg26Ser)
2g.101413042C=CA1274778621RFX8c.930G= (p.Arg310=)
c.591G= (p.Arg197=)
c.804G= (p.Arg268=)
c.717G= (p.Arg239=)
c.*307G= (n.*307G=)
c.819G= (p.Arg273=)
c.501G= (p.Arg167=)
c.303G= (p.Arg101=)
c.*4G= (n.*4G=)
n.874G=
c.78G= (p.Arg26=)
2g.101413042C>GCA347974531RFX8c.930G>C (p.Arg310Ser)
c.591G>C (p.Arg197Ser)
c.804G>C (p.Arg268Ser)
c.717G>C (p.Arg239Ser)
c.*307G>C (n.*307G>C)
c.819G>C (p.Arg273Ser)
c.501G>C (p.Arg167Ser)
c.303G>C (p.Arg101Ser)
c.*4G>C (n.*4G>C)
n.874G>C
c.78G>C (p.Arg26Ser)
 dbSNP
2g.101413042C>TCA427793782RFX8c.930G>A (p.Arg310=)
c.591G>A (p.Arg197=)
c.804G>A (p.Arg268=)
c.717G>A (p.Arg239=)
c.*307G>A (n.*307G>A)
c.819G>A (p.Arg273=)
c.501G>A (p.Arg167=)
c.303G>A (p.Arg101=)
c.*4G>A (n.*4G>A)
n.874G>A
c.78G>A (p.Arg26=)
 gnomAD v4
2g.101413043C>ACA347974532RFX8c.929G>T (p.Arg310Met)
c.590G>T (p.Arg197Met)
c.803G>T (p.Arg268Met)
c.716G>T (p.Arg239Met)
c.*306G>T (n.*306G>T)
c.818G>T (p.Arg273Met)
c.500G>T (p.Arg167Met)
c.302G>T (p.Arg101Met)
c.*3G>T (n.*3G>T)
n.873G>T
c.77G>T (p.Arg26Met)
2g.101413043C=CA1274778622RFX8c.929G= (p.Arg310=)
c.590G= (p.Arg197=)
c.803G= (p.Arg268=)
c.716G= (p.Arg239=)
c.*306G= (n.*306G=)
c.818G= (p.Arg273=)
c.500G= (p.Arg167=)
c.302G= (p.Arg101=)
c.*3G= (n.*3G=)
n.873G=
c.77G= (p.Arg26=)
2g.101413043C>GCA347974534RFX8c.929G>C (p.Arg310Thr)
c.590G>C (p.Arg197Thr)
c.803G>C (p.Arg268Thr)
c.716G>C (p.Arg239Thr)
c.*306G>C (n.*306G>C)
c.818G>C (p.Arg273Thr)
c.500G>C (p.Arg167Thr)
c.302G>C (p.Arg101Thr)
c.*3G>C (n.*3G>C)
n.873G>C
c.77G>C (p.Arg26Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.101413043C>TCA347974533RFX8c.929G>A (p.Arg310Lys)
c.590G>A (p.Arg197Lys)
c.803G>A (p.Arg268Lys)
c.716G>A (p.Arg239Lys)
c.*306G>A (n.*306G>A)
c.818G>A (p.Arg273Lys)
c.500G>A (p.Arg167Lys)
c.302G>A (p.Arg101Lys)
c.*3G>A (n.*3G>A)
n.873G>A
c.77G>A (p.Arg26Lys)
2g.101413044T>ACA347974535RFX8c.928A>T (p.Arg310Trp)
c.589A>T (p.Arg197Trp)
c.802A>T (p.Arg268Trp)
c.715A>T (p.Arg239Trp)
c.*305A>T (n.*305A>T)
c.817A>T (p.Arg273Trp)
c.499A>T (p.Arg167Trp)
c.301A>T (p.Arg101Trp)
c.*2A>T (n.*2A>T)
n.872A>T
c.76A>T (p.Arg26Trp)
2g.101413044T>CCA347974536RFX8c.928A>G (p.Arg310Gly)
c.589A>G (p.Arg197Gly)
c.802A>G (p.Arg268Gly)
c.715A>G (p.Arg239Gly)
c.*305A>G (n.*305A>G)
c.817A>G (p.Arg273Gly)
c.499A>G (p.Arg167Gly)
c.301A>G (p.Arg101Gly)
c.*2A>G (n.*2A>G)
n.872A>G
c.76A>G (p.Arg26Gly)
2g.101413044T>GCA427793796RFX8c.928A>C (p.Arg310=)
c.589A>C (p.Arg197=)
c.802A>C (p.Arg268=)
c.715A>C (p.Arg239=)
c.*305A>C (n.*305A>C)
c.817A>C (p.Arg273=)
c.499A>C (p.Arg167=)
c.301A>C (p.Arg101=)
c.*2A>C (n.*2A>C)
n.872A>C
c.76A>C (p.Arg26=)
2g.101413045C>ACA347974537RFX8c.927G>T (p.Lys309Asn)
c.588G>T (p.Lys196Asn)
c.801G>T (p.Lys267Asn)
c.714G>T (p.Lys238Asn)
c.*304G>T (n.*304G>T)
c.816G>T (p.Lys272Asn)
c.498G>T (p.Lys166Asn)
c.300G>T (p.Lys100Asn)
c.*1G>T (n.*1G>T)
n.871G>T
c.75G>T (p.Lys25Asn)
2g.101413045C>GCA347974538RFX8c.927G>C (p.Lys309Asn)
c.588G>C (p.Lys196Asn)
c.801G>C (p.Lys267Asn)
c.714G>C (p.Lys238Asn)
c.*304G>C (n.*304G>C)
c.816G>C (p.Lys272Asn)
c.498G>C (p.Lys166Asn)
c.300G>C (p.Lys100Asn)
c.*1G>C (n.*1G>C)
n.871G>C
c.75G>C (p.Lys25Asn)
2g.101413045C>TCA427793801RFX8c.927G>A (p.Lys309=)
c.588G>A (p.Lys196=)
c.801G>A (p.Lys267=)
c.714G>A (p.Lys238=)
c.*304G>A (n.*304G>A)
c.816G>A (p.Lys272=)
c.498G>A (p.Lys166=)
c.300G>A (p.Lys100=)
c.*1G>A (n.*1G>A)
n.871G>A
c.75G>A (p.Lys25=)
2g.101413048_101413051delCA427793805RFX8c.924_927del (p.Ser308ArgfsTer7)
c.585_588del (p.Ser195ArgfsTer7)
c.798_801del (p.Ser266ArgfsTer7)
c.711_714del (p.Ser237ArgfsTer7)
c.*301_*304del (n.*301_*304del)
c.813_816del (p.Ser271ArgfsTer7)
c.495_498del (p.Ser165ArgfsTer7)
c.297_300del (p.Ser99ArgfsTer7)
c.754_*1del (n.[c.754_*1del;Ter252ArgextTer?])
n.868_871del
c.72_75del (p.Ser24ArgfsTer7)
2g.101413046T>ACA347974539RFX8c.926A>T (p.Lys309Met)
c.587A>T (p.Lys196Met)
c.800A>T (p.Lys267Met)
c.713A>T (p.Lys238Met)
c.*303A>T (n.*303A>T)
c.815A>T (p.Lys272Met)
c.497A>T (p.Lys166Met)
c.299A>T (p.Lys100Met)
c.756A>T (p.Ter252Tyr)
n.870A>T
c.74A>T (p.Lys25Met)
2g.101413046T>CCA347974540RFX8c.926A>G (p.Lys309Arg)
c.587A>G (p.Lys196Arg)
c.800A>G (p.Lys267Arg)
c.713A>G (p.Lys238Arg)
c.*303A>G (n.*303A>G)
c.815A>G (p.Lys272Arg)
c.497A>G (p.Lys166Arg)
c.299A>G (p.Lys100Arg)
c.756A>G (p.Ter252=)
n.870A>G
c.74A>G (p.Lys25Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.101413046T>GCA347974541RFX8c.926A>C (p.Lys309Thr)
c.587A>C (p.Lys196Thr)
c.800A>C (p.Lys267Thr)
c.713A>C (p.Lys238Thr)
c.*303A>C (n.*303A>C)
c.815A>C (p.Lys272Thr)
c.497A>C (p.Lys166Thr)
c.299A>C (p.Lys100Thr)
c.756A>C (p.Ter252Tyr)
n.870A>C
c.74A>C (p.Lys25Thr)
2g.101413046T=CA1274778623RFX8c.926A= (p.Lys309=)
c.587A= (p.Lys196=)
c.800A= (p.Lys267=)
c.713A= (p.Lys238=)
c.*303A= (n.*303A=)
c.815A= (p.Lys272=)
c.497A= (p.Lys166=)
c.299A= (p.Lys100=)
c.756A= (p.Ter252=)
n.870A=
c.74A= (p.Lys25=)
2g.101413047T>ACA347974542RFX8c.925A>T (p.Lys309Ter)
c.586A>T (p.Lys196Ter)
c.799A>T (p.Lys267Ter)
c.712A>T (p.Lys238Ter)
c.*302A>T (n.*302A>T)
c.814A>T (p.Lys272Ter)
c.496A>T (p.Lys166Ter)
c.298A>T (p.Lys100Ter)
c.755A>T (p.Ter252Leu)
n.869A>T
c.73A>T (p.Lys25Ter)
2g.101413047T>CCA347974543RFX8c.925A>G (p.Lys309Glu)
c.586A>G (p.Lys196Glu)
c.799A>G (p.Lys267Glu)
c.712A>G (p.Lys238Glu)
c.*302A>G (n.*302A>G)
c.814A>G (p.Lys272Glu)
c.496A>G (p.Lys166Glu)
c.298A>G (p.Lys100Glu)
c.755A>G (p.Ter252=)
n.869A>G
c.73A>G (p.Lys25Glu)
2g.101413047T>GCA347974544RFX8c.925A>C (p.Lys309Gln)
c.586A>C (p.Lys196Gln)
c.799A>C (p.Lys267Gln)
c.712A>C (p.Lys238Gln)
c.*302A>C (n.*302A>C)
c.814A>C (p.Lys272Gln)
c.496A>C (p.Lys166Gln)
c.298A>C (p.Lys100Gln)
c.755A>C (p.Ter252Ser)
n.869A>C
c.73A>C (p.Lys25Gln)
2g.101413048A>CCA347974545RFX8c.924T>G (p.Ser308Arg)
c.585T>G (p.Ser195Arg)
c.798T>G (p.Ser266Arg)
c.711T>G (p.Ser237Arg)
c.*301T>G (n.*301T>G)
c.813T>G (p.Ser271Arg)
c.495T>G (p.Ser165Arg)
c.297T>G (p.Ser99Arg)
c.754T>G (p.Ter252Glu)
n.868T>G
c.72T>G (p.Ser24Arg)
2g.101413048A>GCA427793829RFX8c.924T>C (p.Ser308=)
c.585T>C (p.Ser195=)
c.798T>C (p.Ser266=)
c.711T>C (p.Ser237=)
c.*301T>C (n.*301T>C)
c.813T>C (p.Ser271=)
c.495T>C (p.Ser165=)
c.297T>C (p.Ser99=)
c.754T>C (p.Ter252Gln)
n.868T>C
c.72T>C (p.Ser24=)
2g.101413048A>TCA347974546RFX8c.924T>A (p.Ser308Arg)
c.585T>A (p.Ser195Arg)
c.798T>A (p.Ser266Arg)
c.711T>A (p.Ser237Arg)
c.*301T>A (n.*301T>A)
c.813T>A (p.Ser271Arg)
c.495T>A (p.Ser165Arg)
c.297T>A (p.Ser99Arg)
c.754T>A (p.Ter252Lys)
n.868T>A
c.72T>A (p.Ser24Arg)
2g.101413049C>ACA347974547RFX8c.923G>T (p.Ser308Ile)
c.584G>T (p.Ser195Ile)
c.797G>T (p.Ser266Ile)
c.710G>T (p.Ser237Ile)
c.*300G>T (n.*300G>T)
c.812G>T (p.Ser271Ile)
c.494G>T (p.Ser165Ile)
c.296G>T (p.Ser99Ile)
c.753G>T (p.Lys251Asn)
n.867G>T
c.71G>T (p.Ser24Ile)
 gnomAD v4
2g.101413049C=CA1274778624RFX8c.923G= (p.Ser308=)
c.584G= (p.Ser195=)
c.797G= (p.Ser266=)
c.710G= (p.Ser237=)
c.*300G= (n.*300G=)
c.812G= (p.Ser271=)
c.494G= (p.Ser165=)
c.296G= (p.Ser99=)
c.753G= (p.Lys251=)
n.867G=
c.71G= (p.Ser24=)
2g.101413049C>GCA1806434RFX8c.923G>C (p.Ser308Thr)
c.584G>C (p.Ser195Thr)
c.797G>C (p.Ser266Thr)
c.710G>C (p.Ser237Thr)
c.*300G>C (n.*300G>C)
c.812G>C (p.Ser271Thr)
c.494G>C (p.Ser165Thr)
c.296G>C (p.Ser99Thr)
c.753G>C (p.Lys251Asn)
n.867G>C
c.71G>C (p.Ser24Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.101413049C>TCA347974548RFX8c.923G>A (p.Ser308Asn)
c.584G>A (p.Ser195Asn)
c.797G>A (p.Ser266Asn)
c.710G>A (p.Ser237Asn)
c.*300G>A (n.*300G>A)
c.812G>A (p.Ser271Asn)
c.494G>A (p.Ser165Asn)
c.296G>A (p.Ser99Asn)
c.753G>A (p.Lys251=)
n.867G>A
c.71G>A (p.Ser24Asn)
2g.101413050T>ACA347974551RFX8c.922A>T (p.Ser308Cys)
c.583A>T (p.Ser195Cys)
c.796A>T (p.Ser266Cys)
c.709A>T (p.Ser237Cys)
c.*299A>T (n.*299A>T)
c.811A>T (p.Ser271Cys)
c.493A>T (p.Ser165Cys)
c.295A>T (p.Ser99Cys)
c.752A>T (p.Lys251Met)
n.866A>T
c.70A>T (p.Ser24Cys)
2g.101413050T>CCA347974550RFX8c.922A>G (p.Ser308Gly)
c.583A>G (p.Ser195Gly)
c.796A>G (p.Ser266Gly)
c.709A>G (p.Ser237Gly)
c.*299A>G (n.*299A>G)
c.811A>G (p.Ser271Gly)
c.493A>G (p.Ser165Gly)
c.295A>G (p.Ser99Gly)
c.752A>G (p.Lys251Arg)
n.866A>G
c.70A>G (p.Ser24Gly)
2g.101413050T>GCA347974549RFX8c.922A>C (p.Ser308Arg)
c.583A>C (p.Ser195Arg)
c.796A>C (p.Ser266Arg)
c.709A>C (p.Ser237Arg)
c.*299A>C (n.*299A>C)
c.811A>C (p.Ser271Arg)
c.493A>C (p.Ser165Arg)
c.295A>C (p.Ser99Arg)
c.752A>C (p.Lys251Thr)
n.866A>C
c.70A>C (p.Ser24Arg)
2g.101413051T>ACA347974552RFX8c.921A>T (p.Lys307Asn)
c.582A>T (p.Lys194Asn)
c.795A>T (p.Lys265Asn)
c.708A>T (p.Lys236Asn)
c.*298A>T (n.*298A>T)
c.810A>T (p.Lys270Asn)
c.492A>T (p.Lys164Asn)
c.294A>T (p.Lys98Asn)
c.751A>T (p.Lys251Ter)
n.865A>T
c.69A>T (p.Lys23Asn)
2g.101413051T>CCA427793850RFX8c.921A>G (p.Lys307=)
c.582A>G (p.Lys194=)
c.795A>G (p.Lys265=)
c.708A>G (p.Lys236=)
c.*298A>G (n.*298A>G)
c.810A>G (p.Lys270=)
c.492A>G (p.Lys164=)
c.294A>G (p.Lys98=)
c.751A>G (p.Lys251Glu)
n.865A>G
c.69A>G (p.Lys23=)
2g.101413051T>GCA347974553RFX8c.921A>C (p.Lys307Asn)
c.582A>C (p.Lys194Asn)
c.795A>C (p.Lys265Asn)
c.708A>C (p.Lys236Asn)
c.*298A>C (n.*298A>C)
c.810A>C (p.Lys270Asn)
c.492A>C (p.Lys164Asn)
c.294A>C (p.Lys98Asn)
c.751A>C (p.Lys251Gln)
n.865A>C
c.69A>C (p.Lys23Asn)
2g.101413052T>ACA347974554RFX8c.920A>T (p.Lys307Ile)
c.581A>T (p.Lys194Ile)
c.794A>T (p.Lys265Ile)
c.707A>T (p.Lys236Ile)
c.*297A>T (n.*297A>T)
c.809A>T (p.Lys270Ile)
c.491A>T (p.Lys164Ile)
c.293A>T (p.Lys98Ile)
c.750A>T (p.Glu250Asp)
n.864A>T
c.68A>T (p.Lys23Ile)
2g.101413052T>CCA347974555RFX8c.920A>G (p.Lys307Arg)
c.581A>G (p.Lys194Arg)
c.794A>G (p.Lys265Arg)
c.707A>G (p.Lys236Arg)
c.*297A>G (n.*297A>G)
c.809A>G (p.Lys270Arg)
c.491A>G (p.Lys164Arg)
c.293A>G (p.Lys98Arg)
c.750A>G (p.Glu250=)
n.864A>G
c.68A>G (p.Lys23Arg)
2g.101413052T>GCA347974556RFX8c.920A>C (p.Lys307Thr)
c.581A>C (p.Lys194Thr)
c.794A>C (p.Lys265Thr)
c.707A>C (p.Lys236Thr)
c.*297A>C (n.*297A>C)
c.809A>C (p.Lys270Thr)
c.491A>C (p.Lys164Thr)
c.293A>C (p.Lys98Thr)
c.750A>C (p.Glu250Asp)
n.864A>C
c.68A>C (p.Lys23Thr)
2g.101413053T>ACA347974557RFX8c.919A>T (p.Lys307Ter)
c.580A>T (p.Lys194Ter)
c.793A>T (p.Lys265Ter)
c.706A>T (p.Lys236Ter)
c.*296A>T (n.*296A>T)
c.808A>T (p.Lys270Ter)
c.490A>T (p.Lys164Ter)
c.292A>T (p.Lys98Ter)
c.749A>T (p.Glu250Val)
n.863A>T
c.67A>T (p.Lys23Ter)
2g.101413053T>CCA347974558RFX8c.919A>G (p.Lys307Glu)
c.580A>G (p.Lys194Glu)
c.793A>G (p.Lys265Glu)
c.706A>G (p.Lys236Glu)
c.*296A>G (n.*296A>G)
c.808A>G (p.Lys270Glu)
c.490A>G (p.Lys164Glu)
c.292A>G (p.Lys98Glu)
c.749A>G (p.Glu250Gly)
n.863A>G
c.67A>G (p.Lys23Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.101413053T>GCA347974559RFX8c.919A>C (p.Lys307Gln)
c.580A>C (p.Lys194Gln)
c.793A>C (p.Lys265Gln)
c.706A>C (p.Lys236Gln)
c.*296A>C (n.*296A>C)
c.808A>C (p.Lys270Gln)
c.490A>C (p.Lys164Gln)
c.292A>C (p.Lys98Gln)
c.749A>C (p.Glu250Ala)
n.863A>C
c.67A>C (p.Lys23Gln)
2g.101413053T=CA1274778625RFX8c.919A= (p.Lys307=)
c.580A= (p.Lys194=)
c.793A= (p.Lys265=)
c.706A= (p.Lys236=)
c.*296A= (n.*296A=)
c.808A= (p.Lys270=)
c.490A= (p.Lys164=)
c.292A= (p.Lys98=)
c.749A= (p.Glu250=)
n.863A=
c.67A= (p.Lys23=)
2g.101413054C>ACA347974560RFX8c.918G>T (p.Leu306Phe)
c.579G>T (p.Leu193Phe)
c.792G>T (p.Leu264Phe)
c.705G>T (p.Leu235Phe)
c.*295G>T (n.*295G>T)
c.807G>T (p.Leu269Phe)
c.489G>T (p.Leu163Phe)
c.291G>T (p.Leu97Phe)
c.748G>T (p.Glu250Ter)
n.862G>T
c.66G>T (p.Leu22Phe)
2g.101413054C>GCA347974561RFX8c.918G>C (p.Leu306Phe)
c.579G>C (p.Leu193Phe)
c.792G>C (p.Leu264Phe)
c.705G>C (p.Leu235Phe)
c.*295G>C (n.*295G>C)
c.807G>C (p.Leu269Phe)
c.489G>C (p.Leu163Phe)
c.291G>C (p.Leu97Phe)
c.748G>C (p.Glu250Gln)
n.862G>C
c.66G>C (p.Leu22Phe)
2g.101413054C>TCA427793866RFX8c.918G>A (p.Leu306=)
c.579G>A (p.Leu193=)
c.792G>A (p.Leu264=)
c.705G>A (p.Leu235=)
c.*295G>A (n.*295G>A)
c.807G>A (p.Leu269=)
c.489G>A (p.Leu163=)
c.291G>A (p.Leu97=)
c.748G>A (p.Glu250Lys)
n.862G>A
c.66G>A (p.Leu22=)
2g.101413055A=CA1274778626RFX8c.917T= (p.Leu306=)
c.578T= (p.Leu193=)
c.791T= (p.Leu264=)
c.704T= (p.Leu235=)
c.*294T= (n.*294T=)
c.806T= (p.Leu269=)
c.488T= (p.Leu163=)
c.290T= (p.Leu97=)
c.747T= (p.Ile249=)
n.861T=
c.65T= (p.Leu22=)
2g.101413055A>CCA347974562RFX8c.917T>G (p.Leu306Trp)
c.578T>G (p.Leu193Trp)
c.791T>G (p.Leu264Trp)
c.704T>G (p.Leu235Trp)
c.*294T>G (n.*294T>G)
c.806T>G (p.Leu269Trp)
c.488T>G (p.Leu163Trp)
c.290T>G (p.Leu97Trp)
c.747T>G (p.Ile249Met)
n.861T>G
c.65T>G (p.Leu22Trp)
 ClinVar dbSNP gnomAD v4
2g.101413055A>GCA53230255RFX8c.917T>C (p.Leu306Ser)
c.578T>C (p.Leu193Ser)
c.791T>C (p.Leu264Ser)
c.704T>C (p.Leu235Ser)
c.*294T>C (n.*294T>C)
c.806T>C (p.Leu269Ser)
c.488T>C (p.Leu163Ser)
c.290T>C (p.Leu97Ser)
c.747T>C (p.Ile249=)
n.861T>C
c.65T>C (p.Leu22Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.101413055A>TCA347974563RFX8c.917T>A (p.Leu306Ter)
c.578T>A (p.Leu193Ter)
c.791T>A (p.Leu264Ter)
c.704T>A (p.Leu235Ter)
c.*294T>A (n.*294T>A)
c.806T>A (p.Leu269Ter)
c.488T>A (p.Leu163Ter)
c.290T>A (p.Leu97Ter)
c.747T>A (p.Ile249=)
n.861T>A
c.65T>A (p.Leu22Ter)
 dbSNP gnomAD v4
2g.101413056A=CA1274778627RFX8c.916T= (p.Leu306=)
c.577T= (p.Leu193=)
c.790T= (p.Leu264=)
c.703T= (p.Leu235=)
c.*293T= (n.*293T=)
c.805T= (p.Leu269=)
c.487T= (p.Leu163=)
c.289T= (p.Leu97=)
c.746T= (p.Ile249=)
n.860T=
c.64T= (p.Leu22=)
2g.101413056A>CCA347974565RFX8c.916T>G (p.Leu306Val)
c.577T>G (p.Leu193Val)
c.790T>G (p.Leu264Val)
c.703T>G (p.Leu235Val)
c.*293T>G (n.*293T>G)
c.805T>G (p.Leu269Val)
c.487T>G (p.Leu163Val)
c.289T>G (p.Leu97Val)
c.746T>G (p.Ile249Ser)
n.860T>G
c.64T>G (p.Leu22Val)
2g.101413056A>GCA53230257RFX8c.916T>C (p.Leu306=)
c.577T>C (p.Leu193=)
c.790T>C (p.Leu264=)
c.703T>C (p.Leu235=)
c.*293T>C (n.*293T>C)
c.805T>C (p.Leu269=)
c.487T>C (p.Leu163=)
c.289T>C (p.Leu97=)
c.746T>C (p.Ile249Thr)
n.860T>C
c.64T>C (p.Leu22=)
 dbSNP gnomAD v4
2g.101413056A>TCA347974564RFX8c.916T>A (p.Leu306Met)
c.577T>A (p.Leu193Met)
c.790T>A (p.Leu264Met)
c.703T>A (p.Leu235Met)
c.*293T>A (n.*293T>A)
c.805T>A (p.Leu269Met)
c.487T>A (p.Leu163Met)
c.289T>A (p.Leu97Met)
c.746T>A (p.Ile249Asn)
n.860T>A
c.64T>A (p.Leu22Met)
2g.101413057T>ACA427793881RFX8c.915A>T (p.Val305=)
c.576A>T (p.Val192=)
c.789A>T (p.Val263=)
c.702A>T (p.Val234=)
c.*292A>T (n.*292A>T)
c.804A>T (p.Val268=)
c.486A>T (p.Val162=)
c.288A>T (p.Val96=)
c.745A>T (p.Ile249Phe)
n.859A>T
c.63A>T (p.Val21=)
2g.101413057T>CCA427793884RFX8c.915A>G (p.Val305=)
c.576A>G (p.Val192=)
c.789A>G (p.Val263=)
c.702A>G (p.Val234=)
c.*292A>G (n.*292A>G)
c.804A>G (p.Val268=)
c.486A>G (p.Val162=)
c.288A>G (p.Val96=)
c.745A>G (p.Ile249Val)
n.859A>G
c.63A>G (p.Val21=)
2g.101413057T>GCA427793887RFX8c.915A>C (p.Val305=)
c.576A>C (p.Val192=)
c.789A>C (p.Val263=)
c.702A>C (p.Val234=)
c.*292A>C (n.*292A>C)
c.804A>C (p.Val268=)
c.486A>C (p.Val162=)
c.288A>C (p.Val96=)
c.745A>C (p.Ile249Leu)
n.859A>C
c.63A>C (p.Val21=)
2g.101413058A>CCA347974566RFX8c.914T>G (p.Val305Gly)
c.575T>G (p.Val192Gly)
c.788T>G (p.Val263Gly)
c.701T>G (p.Val234Gly)
c.*291T>G (n.*291T>G)
c.803T>G (p.Val268Gly)
c.485T>G (p.Val162Gly)
c.287T>G (p.Val96Gly)
c.744T>G (p.Gly248=)
n.858T>G
c.62T>G (p.Val21Gly)
2g.101413058A>GCA347974567RFX8c.914T>C (p.Val305Ala)
c.575T>C (p.Val192Ala)
c.788T>C (p.Val263Ala)
c.701T>C (p.Val234Ala)
c.*291T>C (n.*291T>C)
c.803T>C (p.Val268Ala)
c.485T>C (p.Val162Ala)
c.287T>C (p.Val96Ala)
c.744T>C (p.Gly248=)
n.858T>C
c.62T>C (p.Val21Ala)
2g.101413058A>TCA347974568RFX8c.914T>A (p.Val305Glu)
c.575T>A (p.Val192Glu)
c.788T>A (p.Val263Glu)
c.701T>A (p.Val234Glu)
c.*291T>A (n.*291T>A)
c.803T>A (p.Val268Glu)
c.485T>A (p.Val162Glu)
c.287T>A (p.Val96Glu)
c.744T>A (p.Gly248=)
n.858T>A
c.62T>A (p.Val21Glu)
2g.101413059C>ACA347974569RFX8c.913G>T (p.Val305Leu)
c.574G>T (p.Val192Leu)
c.787G>T (p.Val263Leu)
c.700G>T (p.Val234Leu)
c.*290G>T (n.*290G>T)
c.802G>T (p.Val268Leu)
c.484G>T (p.Val162Leu)
c.286G>T (p.Val96Leu)
c.743G>T (p.Gly248Val)
n.857G>T
c.61G>T (p.Val21Leu)
 gnomAD v4
2g.101413059C>GCA347974570RFX8c.913G>C (p.Val305Leu)
c.574G>C (p.Val192Leu)
c.787G>C (p.Val263Leu)
c.700G>C (p.Val234Leu)
c.*290G>C (n.*290G>C)
c.802G>C (p.Val268Leu)
c.484G>C (p.Val162Leu)
c.286G>C (p.Val96Leu)
c.743G>C (p.Gly248Ala)
n.857G>C
c.61G>C (p.Val21Leu)
2g.101413059C>TCA347974571RFX8c.913G>A (p.Val305Ile)
c.574G>A (p.Val192Ile)
c.787G>A (p.Val263Ile)
c.700G>A (p.Val234Ile)
c.*290G>A (n.*290G>A)
c.802G>A (p.Val268Ile)
c.484G>A (p.Val162Ile)
c.286G>A (p.Val96Ile)
c.743G>A (p.Gly248Asp)
n.857G>A
c.61G>A (p.Val21Ile)
2g.101413060C>ACA347974572RFX8c.912G>T (p.Met304Ile)
c.573G>T (p.Met191Ile)
c.786G>T (p.Met262Ile)
c.699G>T (p.Met233Ile)
c.*289G>T (n.*289G>T)
c.801G>T (p.Met267Ile)
c.483G>T (p.Met161Ile)
c.285G>T (p.Met95Ile)
c.742G>T (p.Gly248Cys)
n.856G>T
c.60G>T (p.Met20Ile)
2g.101413060C=CA1274778628RFX8c.912G= (p.Met304=)
c.573G= (p.Met191=)
c.786G= (p.Met262=)
c.699G= (p.Met233=)
c.*289G= (n.*289G=)
c.801G= (p.Met267=)
c.483G= (p.Met161=)
c.285G= (p.Met95=)
c.742G= (p.Gly248=)
n.856G=
c.60G= (p.Met20=)
2g.101413060C>GCA1806435RFX8c.912G>C (p.Met304Ile)
c.573G>C (p.Met191Ile)
c.786G>C (p.Met262Ile)
c.699G>C (p.Met233Ile)
c.*289G>C (n.*289G>C)
c.801G>C (p.Met267Ile)
c.483G>C (p.Met161Ile)
c.285G>C (p.Met95Ile)
c.742G>C (p.Gly248Arg)
n.856G>C
c.60G>C (p.Met20Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.101413060C>TCA347974573RFX8c.912G>A (p.Met304Ile)
c.573G>A (p.Met191Ile)
c.786G>A (p.Met262Ile)
c.699G>A (p.Met233Ile)
c.*289G>A (n.*289G>A)
c.801G>A (p.Met267Ile)
c.483G>A (p.Met161Ile)
c.285G>A (p.Met95Ile)
c.742G>A (p.Gly248Ser)
n.856G>A
c.60G>A (p.Met20Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.101413061A>CCA347974574RFX8c.911T>G (p.Met304Arg)
c.572T>G (p.Met191Arg)
c.785T>G (p.Met262Arg)
c.698T>G (p.Met233Arg)
c.*288T>G (n.*288T>G)
c.800T>G (p.Met267Arg)
c.482T>G (p.Met161Arg)
c.284T>G (p.Met95Arg)
c.741T>G (p.Asn247Lys)
n.855T>G
c.59T>G (p.Met20Arg)
2g.101413061A>GCA347974575RFX8c.911T>C (p.Met304Thr)
c.572T>C (p.Met191Thr)
c.785T>C (p.Met262Thr)
c.698T>C (p.Met233Thr)
c.*288T>C (n.*288T>C)
c.800T>C (p.Met267Thr)
c.482T>C (p.Met161Thr)
c.284T>C (p.Met95Thr)
c.741T>C (p.Asn247=)
n.855T>C
c.59T>C (p.Met20Thr)
2g.101413061A>TCA347974576RFX8c.911T>A (p.Met304Lys)
c.572T>A (p.Met191Lys)
c.785T>A (p.Met262Lys)
c.698T>A (p.Met233Lys)
c.*288T>A (n.*288T>A)
c.800T>A (p.Met267Lys)
c.482T>A (p.Met161Lys)
c.284T>A (p.Met95Lys)
c.741T>A (p.Asn247Lys)
n.855T>A
c.59T>A (p.Met20Lys)
2g.101413062T>ACA347974579RFX8c.910A>T (p.Met304Leu)
c.571A>T (p.Met191Leu)
c.784A>T (p.Met262Leu)
c.697A>T (p.Met233Leu)
c.*287A>T (n.*287A>T)
c.799A>T (p.Met267Leu)
c.481A>T (p.Met161Leu)
c.283A>T (p.Met95Leu)
c.740A>T (p.Asn247Ile)
n.854A>T
c.58A>T (p.Met20Leu)
2g.101413062T>CCA347974577RFX8c.910A>G (p.Met304Val)
c.571A>G (p.Met191Val)
c.784A>G (p.Met262Val)
c.697A>G (p.Met233Val)
c.*287A>G (n.*287A>G)
c.799A>G (p.Met267Val)
c.481A>G (p.Met161Val)
c.283A>G (p.Met95Val)
c.740A>G (p.Asn247Ser)
n.854A>G
c.58A>G (p.Met20Val)
2g.101413062T>GCA347974578RFX8c.910A>C (p.Met304Leu)
c.571A>C (p.Met191Leu)
c.784A>C (p.Met262Leu)
c.697A>C (p.Met233Leu)
c.*287A>C (n.*287A>C)
c.799A>C (p.Met267Leu)
c.481A>C (p.Met161Leu)
c.283A>C (p.Met95Leu)
c.740A>C (p.Asn247Thr)
n.854A>C
c.58A>C (p.Met20Leu)
2g.101413063T>ACA427793973RFX8c.909A>T (p.Arg303=)
c.570A>T (p.Arg190=)
c.783A>T (p.Arg261=)
c.696A>T (p.Arg232=)
c.*286A>T (n.*286A>T)
c.798A>T (p.Arg266=)
c.480A>T (p.Arg160=)
c.282A>T (p.Arg94=)
c.739A>T (p.Asn247Tyr)
n.853A>T
c.57A>T (p.Arg19=)
2g.101413063T>CCA427793968RFX8c.909A>G (p.Arg303=)
c.570A>G (p.Arg190=)
c.783A>G (p.Arg261=)
c.696A>G (p.Arg232=)
c.*286A>G (n.*286A>G)
c.798A>G (p.Arg266=)
c.480A>G (p.Arg160=)
c.282A>G (p.Arg94=)
c.739A>G (p.Asn247Asp)
n.853A>G
c.57A>G (p.Arg19=)
2g.101413063T>GCA427793946RFX8c.909A>C (p.Arg303=)
c.570A>C (p.Arg190=)
c.783A>C (p.Arg261=)
c.696A>C (p.Arg232=)
c.*286A>C (n.*286A>C)
c.798A>C (p.Arg266=)
c.480A>C (p.Arg160=)
c.282A>C (p.Arg94=)
c.739A>C (p.Asn247His)
n.853A>C
c.57A>C (p.Arg19=)
 dbSNP
2g.101413063T=CA1274778629RFX8c.909A= (p.Arg303=)
c.570A= (p.Arg190=)
c.783A= (p.Arg261=)
c.696A= (p.Arg232=)
c.*286A= (n.*286A=)
c.798A= (p.Arg266=)
c.480A= (p.Arg160=)
c.282A= (p.Arg94=)
c.739A= (p.Asn247=)
n.853A=
c.57A= (p.Arg19=)
2g.101413064C>ACA347974580RFX8c.908G>T (p.Arg303Leu)
c.569G>T (p.Arg190Leu)
c.782G>T (p.Arg261Leu)
c.695G>T (p.Arg232Leu)
c.*285G>T (n.*285G>T)
c.797G>T (p.Arg266Leu)
c.479G>T (p.Arg160Leu)
c.281G>T (p.Arg94Leu)
c.738G>T (p.Ala246=)
n.852G>T
c.56G>T (p.Arg19Leu)
2g.101413064C=CA1274778630RFX8c.908G= (p.Arg303=)
c.569G= (p.Arg190=)
c.782G= (p.Arg261=)
c.695G= (p.Arg232=)
c.*285G= (n.*285G=)
c.797G= (p.Arg266=)
c.479G= (p.Arg160=)
c.281G= (p.Arg94=)
c.738G= (p.Ala246=)
n.852G=
c.56G= (p.Arg19=)
2g.101413064C>GCA347974581RFX8c.908G>C (p.Arg303Pro)
c.569G>C (p.Arg190Pro)
c.782G>C (p.Arg261Pro)
c.695G>C (p.Arg232Pro)
c.*285G>C (n.*285G>C)
c.797G>C (p.Arg266Pro)
c.479G>C (p.Arg160Pro)
c.281G>C (p.Arg94Pro)
c.738G>C (p.Ala246=)
n.852G>C
c.56G>C (p.Arg19Pro)
2g.101413064C>TCA347974582RFX8c.908G>A (p.Arg303Gln)
c.569G>A (p.Arg190Gln)
c.782G>A (p.Arg261Gln)
c.695G>A (p.Arg232Gln)
c.*285G>A (n.*285G>A)
c.797G>A (p.Arg266Gln)
c.479G>A (p.Arg160Gln)
c.281G>A (p.Arg94Gln)
c.738G>A (p.Ala246=)
n.852G>A
c.56G>A (p.Arg19Gln)
 dbSNP gnomAD v2 gnomAD v4
2g.101413065G>ACA347974583RFX8c.907C>T (p.Arg303Ter)
c.568C>T (p.Arg190Ter)
c.781C>T (p.Arg261Ter)
c.694C>T (p.Arg232Ter)
c.*284C>T (n.*284C>T)
c.796C>T (p.Arg266Ter)
c.478C>T (p.Arg160Ter)
c.280C>T (p.Arg94Ter)
c.737C>T (p.Ala246Val)
n.851C>T
c.55C>T (p.Arg19Ter)
 dbSNP gnomAD v4
2g.101413065G>CCA347974584RFX8c.907C>G (p.Arg303Gly)
c.568C>G (p.Arg190Gly)
c.781C>G (p.Arg261Gly)
c.694C>G (p.Arg232Gly)
c.*284C>G (n.*284C>G)
c.796C>G (p.Arg266Gly)
c.478C>G (p.Arg160Gly)
c.280C>G (p.Arg94Gly)
c.737C>G (p.Ala246Gly)
n.851C>G
c.55C>G (p.Arg19Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.101413065G=CA1274778631RFX8c.907C= (p.Arg303=)
c.568C= (p.Arg190=)
c.781C= (p.Arg261=)
c.694C= (p.Arg232=)
c.*284C= (n.*284C=)
c.796C= (p.Arg266=)
c.478C= (p.Arg160=)
c.280C= (p.Arg94=)
c.737C= (p.Ala246=)
n.851C=
c.55C= (p.Arg19=)
2g.101413065G>TCA427793985RFX8c.907C>A (p.Arg303=)
c.568C>A (p.Arg190=)
c.781C>A (p.Arg261=)
c.694C>A (p.Arg232=)
c.*284C>A (n.*284C>A)
c.796C>A (p.Arg266=)
c.478C>A (p.Arg160=)
c.280C>A (p.Arg94=)
c.737C>A (p.Ala246Glu)
n.851C>A
c.55C>A (p.Arg19=)
 gnomAD v4
2g.101413066C>ACA347974585RFX8c.906G>T (p.Met302Ile)
c.567G>T (p.Met189Ile)
c.780G>T (p.Met260Ile)
c.693G>T (p.Met231Ile)
c.*283G>T (n.*283G>T)
c.795G>T (p.Met265Ile)
c.477G>T (p.Met159Ile)
c.279G>T (p.Met93Ile)
c.736G>T (p.Ala246Ser)
n.850G>T
c.54G>T (p.Met18Ile)
2g.101413066C=CA1274778632RFX8c.906G= (p.Met302=)
c.567G= (p.Met189=)
c.780G= (p.Met260=)
c.693G= (p.Met231=)
c.*283G= (n.*283G=)
c.795G= (p.Met265=)
c.477G= (p.Met159=)
c.279G= (p.Met93=)
c.736G= (p.Ala246=)
n.850G=
c.54G= (p.Met18=)
2g.101413066C>GCA347974586RFX8c.906G>C (p.Met302Ile)
c.567G>C (p.Met189Ile)
c.780G>C (p.Met260Ile)
c.693G>C (p.Met231Ile)
c.*283G>C (n.*283G>C)
c.795G>C (p.Met265Ile)
c.477G>C (p.Met159Ile)
c.279G>C (p.Met93Ile)
c.736G>C (p.Ala246Pro)
n.850G>C
c.54G>C (p.Met18Ile)
2g.101413066C>TCA347974587RFX8c.906G>A (p.Met302Ile)
c.567G>A (p.Met189Ile)
c.780G>A (p.Met260Ile)
c.693G>A (p.Met231Ile)
c.*283G>A (n.*283G>A)
c.795G>A (p.Met265Ile)
c.477G>A (p.Met159Ile)
c.279G>A (p.Met93Ile)
c.736G>A (p.Ala246Thr)
n.850G>A
c.54G>A (p.Met18Ile)
 dbSNP
2g.101413067A=CA1274778633RFX8c.905T= (p.Met302=)
c.566T= (p.Met189=)
c.779T= (p.Met260=)
c.692T= (p.Met231=)
c.*282T= (n.*282T=)
c.794T= (p.Met265=)
c.476T= (p.Met159=)
c.278T= (p.Met93=)
c.735T= (p.Tyr245=)
n.849T=
c.53T= (p.Met18=)
2g.101413067A>CCA53230262RFX8c.905T>G (p.Met302Arg)
c.566T>G (p.Met189Arg)
c.779T>G (p.Met260Arg)
c.692T>G (p.Met231Arg)
c.*282T>G (n.*282T>G)
c.794T>G (p.Met265Arg)
c.476T>G (p.Met159Arg)
c.278T>G (p.Met93Arg)
c.735T>G (p.Tyr245Ter)
n.849T>G
c.53T>G (p.Met18Arg)
 dbSNP gnomAD v4
2g.101413067A>GCA347974588RFX8c.905T>C (p.Met302Thr)
c.566T>C (p.Met189Thr)
c.779T>C (p.Met260Thr)
c.692T>C (p.Met231Thr)
c.*282T>C (n.*282T>C)
c.794T>C (p.Met265Thr)
c.476T>C (p.Met159Thr)
c.278T>C (p.Met93Thr)
c.735T>C (p.Tyr245=)
n.849T>C
c.53T>C (p.Met18Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.101413067A>TCA347974589RFX8c.905T>A (p.Met302Lys)
c.566T>A (p.Met189Lys)
c.779T>A (p.Met260Lys)
c.692T>A (p.Met231Lys)
c.*282T>A (n.*282T>A)
c.794T>A (p.Met265Lys)
c.476T>A (p.Met159Lys)
c.278T>A (p.Met93Lys)
c.735T>A (p.Tyr245Ter)
n.849T>A
c.53T>A (p.Met18Lys)
 gnomAD v4 COSMIC COSMIC
2g.101413068T>ACA347974591RFX8c.904A>T (p.Met302Leu)
c.565A>T (p.Met189Leu)
c.778A>T (p.Met260Leu)
c.691A>T (p.Met231Leu)
c.*281A>T (n.*281A>T)
c.793A>T (p.Met265Leu)
c.475A>T (p.Met159Leu)
c.277A>T (p.Met93Leu)
c.734A>T (p.Tyr245Phe)
n.848A>T
c.52A>T (p.Met18Leu)
2g.101413068T>CCA53230264RFX8c.904A>G (p.Met302Val)
c.565A>G (p.Met189Val)
c.778A>G (p.Met260Val)
c.691A>G (p.Met231Val)
c.*281A>G (n.*281A>G)
c.793A>G (p.Met265Val)
c.475A>G (p.Met159Val)
c.277A>G (p.Met93Val)
c.734A>G (p.Tyr245Cys)
n.848A>G
c.52A>G (p.Met18Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.101413068T>GCA347974590RFX8c.904A>C (p.Met302Leu)
c.565A>C (p.Met189Leu)
c.778A>C (p.Met260Leu)
c.691A>C (p.Met231Leu)
c.*281A>C (n.*281A>C)
c.793A>C (p.Met265Leu)
c.475A>C (p.Met159Leu)
c.277A>C (p.Met93Leu)
c.734A>C (p.Tyr245Ser)
n.848A>C
c.52A>C (p.Met18Leu)
2g.101413068T=CA1274778634RFX8c.904A= (p.Met302=)
c.565A= (p.Met189=)
c.778A= (p.Met260=)
c.691A= (p.Met231=)
c.*281A= (n.*281A=)
c.793A= (p.Met265=)
c.475A= (p.Met159=)
c.277A= (p.Met93=)
c.734A= (p.Tyr245=)
n.848A=
c.52A= (p.Met18=)
2g.101413069A>CCA427794002RFX8c.903T>G (p.Thr301=)
c.564T>G (p.Thr188=)
c.777T>G (p.Thr259=)
c.690T>G (p.Thr230=)
c.*280T>G (n.*280T>G)
c.792T>G (p.Thr264=)
c.474T>G (p.Thr158=)
c.276T>G (p.Thr92=)
c.733T>G (p.Tyr245Asp)
n.847T>G
c.51T>G (p.Thr17=)
2g.101413069A>GCA427794003RFX8c.903T>C (p.Thr301=)
c.564T>C (p.Thr188=)
c.777T>C (p.Thr259=)
c.690T>C (p.Thr230=)
c.*280T>C (n.*280T>C)
c.792T>C (p.Thr264=)
c.474T>C (p.Thr158=)
c.276T>C (p.Thr92=)
c.733T>C (p.Tyr245His)
n.847T>C
c.51T>C (p.Thr17=)
 gnomAD v4
2g.101413069A>TCA427794005RFX8c.903T>A (p.Thr301=)
c.564T>A (p.Thr188=)
c.777T>A (p.Thr259=)
c.690T>A (p.Thr230=)
c.*280T>A (n.*280T>A)
c.792T>A (p.Thr264=)
c.474T>A (p.Thr158=)
c.276T>A (p.Thr92=)
c.733T>A (p.Tyr245Asn)
n.847T>A
c.51T>A (p.Thr17=)
2g.101413070G>ACA347974592RFX8c.902C>T (p.Thr301Ile)
c.563C>T (p.Thr188Ile)
c.776C>T (p.Thr259Ile)
c.689C>T (p.Thr230Ile)
c.*279C>T (n.*279C>T)
c.791C>T (p.Thr264Ile)
c.473C>T (p.Thr158Ile)
c.275C>T (p.Thr92Ile)
c.732C>T (p.Asp244=)
n.846C>T
c.50C>T (p.Thr17Ile)
2g.101413070G>CCA347974594RFX8c.902C>G (p.Thr301Ser)
c.563C>G (p.Thr188Ser)
c.776C>G (p.Thr259Ser)
c.689C>G (p.Thr230Ser)
c.*279C>G (n.*279C>G)
c.791C>G (p.Thr264Ser)
c.473C>G (p.Thr158Ser)
c.275C>G (p.Thr92Ser)
c.732C>G (p.Asp244Glu)
n.846C>G
c.50C>G (p.Thr17Ser)
2g.101413070G=CA1274778635RFX8c.902C= (p.Thr301=)
c.563C= (p.Thr188=)
c.776C= (p.Thr259=)
c.689C= (p.Thr230=)
c.*279C= (n.*279C=)
c.791C= (p.Thr264=)
c.473C= (p.Thr158=)
c.275C= (p.Thr92=)
c.732C= (p.Asp244=)
n.846C=
c.50C= (p.Thr17=)
2g.101413070G>TCA347974593RFX8c.902C>A (p.Thr301Asn)
c.563C>A (p.Thr188Asn)
c.776C>A (p.Thr259Asn)
c.689C>A (p.Thr230Asn)
c.*279C>A (n.*279C>A)
c.791C>A (p.Thr264Asn)
c.473C>A (p.Thr158Asn)
c.275C>A (p.Thr92Asn)
c.732C>A (p.Asp244Glu)
n.846C>A
c.50C>A (p.Thr17Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.101413071T>ACA347974595RFX8c.901A>T (p.Thr301Ser)
c.562A>T (p.Thr188Ser)
c.775A>T (p.Thr259Ser)
c.688A>T (p.Thr230Ser)
c.*278A>T (n.*278A>T)
c.790A>T (p.Thr264Ser)
c.472A>T (p.Thr158Ser)
c.274A>T (p.Thr92Ser)
c.731A>T (p.Asp244Val)
n.845A>T
c.49A>T (p.Thr17Ser)
2g.101413071T>CCA1806436RFX8c.901A>G (p.Thr301Ala)
c.562A>G (p.Thr188Ala)
c.775A>G (p.Thr259Ala)
c.688A>G (p.Thr230Ala)
c.*278A>G (n.*278A>G)
c.790A>G (p.Thr264Ala)
c.472A>G (p.Thr158Ala)
c.274A>G (p.Thr92Ala)
c.731A>G (p.Asp244Gly)
n.845A>G
c.49A>G (p.Thr17Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.101413071T>GCA53230267RFX8c.901A>C (p.Thr301Pro)
c.562A>C (p.Thr188Pro)
c.775A>C (p.Thr259Pro)
c.688A>C (p.Thr230Pro)
c.*278A>C (n.*278A>C)
c.790A>C (p.Thr264Pro)
c.472A>C (p.Thr158Pro)
c.274A>C (p.Thr92Pro)
c.731A>C (p.Asp244Ala)
n.845A>C
c.49A>C (p.Thr17Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.101413071T=CA1274778636RFX8c.901A= (p.Thr301=)
c.562A= (p.Thr188=)
c.775A= (p.Thr259=)
c.688A= (p.Thr230=)
c.*278A= (n.*278A=)
c.790A= (p.Thr264=)
c.472A= (p.Thr158=)
c.274A= (p.Thr92=)
c.731A= (p.Asp244=)
n.845A=
c.49A= (p.Thr17=)
2g.101413072C>ACA347974596RFX8c.901-1G>T (n.901-1G>T)
c.562-1G>T (n.562-1G>T)
c.775-1G>T (n.775-1G>T)
c.688-1G>T (n.688-1G>T)
c.*278-1G>T (n.*278-1G>T)
c.790-1G>T (n.790-1G>T)
c.472-1G>T (n.472-1G>T)
c.274-1G>T (n.274-1G>T)
c.731-1G>T (n.731-1G>T)
n.845-1G>T
c.49-1G>T (n.49-1G>T)
2g.101413072C=CA1274778637RFX8c.901-1G= (n.901-1G=)
c.562-1G= (n.562-1G=)
c.775-1G= (n.775-1G=)
c.688-1G= (n.688-1G=)
c.*278-1G= (n.*278-1G=)
c.790-1G= (n.790-1G=)
c.472-1G= (n.472-1G=)
c.274-1G= (n.274-1G=)
c.731-1G= (n.731-1G=)
n.845-1G=
c.49-1G= (n.49-1G=)
2g.101413072C>GCA347974597RFX8c.901-1G>C (n.901-1G>C)
c.562-1G>C (n.562-1G>C)
c.775-1G>C (n.775-1G>C)
c.688-1G>C (n.688-1G>C)
c.*278-1G>C (n.*278-1G>C)
c.790-1G>C (n.790-1G>C)
c.472-1G>C (n.472-1G>C)
c.274-1G>C (n.274-1G>C)
c.731-1G>C (n.731-1G>C)
n.845-1G>C
c.49-1G>C (n.49-1G>C)
2g.101413072C>TCA53230269RFX8c.901-1G>A (n.901-1G>A)
c.562-1G>A (n.562-1G>A)
c.775-1G>A (n.775-1G>A)
c.688-1G>A (n.688-1G>A)
c.*278-1G>A (n.*278-1G>A)
c.790-1G>A (n.790-1G>A)
c.472-1G>A (n.472-1G>A)
c.274-1G>A (n.274-1G>A)
c.731-1G>A (n.731-1G>A)
n.845-1G>A
c.49-1G>A (n.49-1G>A)
 dbSNP
2g.101413073T>ACA347974598RFX8c.901-2A>T (n.901-2A>T)
c.562-2A>T (n.562-2A>T)
c.775-2A>T (n.775-2A>T)
c.688-2A>T (n.688-2A>T)
c.*278-2A>T (n.*278-2A>T)
c.790-2A>T (n.790-2A>T)
c.472-2A>T (n.472-2A>T)
c.274-2A>T (n.274-2A>T)
c.731-2A>T (n.731-2A>T)
n.845-2A>T
c.49-2A>T (n.49-2A>T)
2g.101413073T>CCA347974599RFX8c.901-2A>G (n.901-2A>G)
c.562-2A>G (n.562-2A>G)
c.775-2A>G (n.775-2A>G)
c.688-2A>G (n.688-2A>G)
c.*278-2A>G (n.*278-2A>G)
c.790-2A>G (n.790-2A>G)
c.472-2A>G (n.472-2A>G)
c.274-2A>G (n.274-2A>G)
c.731-2A>G (n.731-2A>G)
n.845-2A>G
c.49-2A>G (n.49-2A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.101413073T>GCA347974600RFX8c.901-2A>C (n.901-2A>C)
c.562-2A>C (n.562-2A>C)
c.775-2A>C (n.775-2A>C)
c.688-2A>C (n.688-2A>C)
c.*278-2A>C (n.*278-2A>C)
c.790-2A>C (n.790-2A>C)
c.472-2A>C (n.472-2A>C)
c.274-2A>C (n.274-2A>C)
c.731-2A>C (n.731-2A>C)
n.845-2A>C
c.49-2A>C (n.49-2A>C)
2g.101413073T=CA1274778638RFX8c.901-2A= (n.901-2A=)
c.562-2A= (n.562-2A=)
c.775-2A= (n.775-2A=)
c.688-2A= (n.688-2A=)
c.*278-2A= (n.*278-2A=)
c.790-2A= (n.790-2A=)
c.472-2A= (n.472-2A=)
c.274-2A= (n.274-2A=)
c.731-2A= (n.731-2A=)
n.845-2A=
c.49-2A= (n.49-2A=)
2g.101413076_101413101delCA2571570376RFX8c.901-27_901-2del (n.901-27_901-2del)
c.562-27_562-2del (n.562-27_562-2del)
c.775-27_775-2del (n.775-27_775-2del)
c.688-27_688-2del (n.688-27_688-2del)
c.*278-27_*278-2del (n.*278-27_*278-2del)
c.790-27_790-2del (n.790-27_790-2del)
c.472-27_472-2del (n.472-27_472-2del)
c.274-27_274-2del (n.274-27_274-2del)
c.731-27_731-2del (n.731-27_731-2del)
n.845-27_845-2del
c.49-27_49-2del (n.49-27_49-2del)
2g.101413074A>GCA2660437697RFX8c.901-3T>C (n.901-3T>C)
c.562-3T>C (n.562-3T>C)
c.775-3T>C (n.775-3T>C)
c.688-3T>C (n.688-3T>C)
c.*278-3T>C (n.*278-3T>C)
c.790-3T>C (n.790-3T>C)
c.472-3T>C (n.472-3T>C)
c.274-3T>C (n.274-3T>C)
c.731-3T>C (n.731-3T>C)
n.845-3T>C
c.49-3T>C (n.49-3T>C)
 gnomAD v4
2g.101413075A=CA1274778639RFX8c.901-4T= (n.901-4T=)
c.562-4T= (n.562-4T=)
c.775-4T= (n.775-4T=)
c.688-4T= (n.688-4T=)
c.*278-4T= (n.*278-4T=)
c.790-4T= (n.790-4T=)
c.472-4T= (n.472-4T=)
c.274-4T= (n.274-4T=)
c.731-4T= (n.731-4T=)
n.845-4T=
c.49-4T= (n.49-4T=)
2g.101413075A>CCA53230271RFX8c.901-4T>G (n.901-4T>G)
c.562-4T>G (n.562-4T>G)
c.775-4T>G (n.775-4T>G)
c.688-4T>G (n.688-4T>G)
c.*278-4T>G (n.*278-4T>G)
c.790-4T>G (n.790-4T>G)
c.472-4T>G (n.472-4T>G)
c.274-4T>G (n.274-4T>G)
c.731-4T>G (n.731-4T>G)
n.845-4T>G
c.49-4T>G (n.49-4T>G)
 dbSNP gnomAD v2 gnomAD v4
2g.101413075A>TCA2751448464RFX8c.901-4T>A (n.901-4T>A)
c.562-4T>A (n.562-4T>A)
c.775-4T>A (n.775-4T>A)
c.688-4T>A (n.688-4T>A)
c.*278-4T>A (n.*278-4T>A)
c.790-4T>A (n.790-4T>A)
c.472-4T>A (n.472-4T>A)
c.274-4T>A (n.274-4T>A)
c.731-4T>A (n.731-4T>A)
n.845-4T>A
c.49-4T>A (n.49-4T>A)
2g.101413076A>GCA2660437698RFX8c.901-5T>C (n.901-5T>C)
c.562-5T>C (n.562-5T>C)
c.775-5T>C (n.775-5T>C)
c.688-5T>C (n.688-5T>C)
c.*278-5T>C (n.*278-5T>C)
c.790-5T>C (n.790-5T>C)
c.472-5T>C (n.472-5T>C)
c.274-5T>C (n.274-5T>C)
c.731-5T>C (n.731-5T>C)
n.845-5T>C
c.49-5T>C (n.49-5T>C)
 gnomAD v4
2g.101413077G>ACA53230274RFX8c.901-6C>T (n.901-6C>T)
c.562-6C>T (n.562-6C>T)
c.775-6C>T (n.775-6C>T)
c.688-6C>T (n.688-6C>T)
c.*278-6C>T (n.*278-6C>T)
c.790-6C>T (n.790-6C>T)
c.472-6C>T (n.472-6C>T)
c.274-6C>T (n.274-6C>T)
c.731-6C>T (n.731-6C>T)
n.845-6C>T
c.49-6C>T (n.49-6C>T)
 dbSNP
2g.101413077G=CA1274778640RFX8c.901-6C= (n.901-6C=)
c.562-6C= (n.562-6C=)
c.775-6C= (n.775-6C=)
c.688-6C= (n.688-6C=)
c.*278-6C= (n.*278-6C=)
c.790-6C= (n.790-6C=)
c.472-6C= (n.472-6C=)
c.274-6C= (n.274-6C=)
c.731-6C= (n.731-6C=)
n.845-6C=
c.49-6C= (n.49-6C=)
2g.101413078A=CA1274778641RFX8c.901-7T= (n.901-7T=)
c.562-7T= (n.562-7T=)
c.775-7T= (n.775-7T=)
c.688-7T= (n.688-7T=)
c.*278-7T= (n.*278-7T=)
c.790-7T= (n.790-7T=)
c.472-7T= (n.472-7T=)
c.274-7T= (n.274-7T=)
c.731-7T= (n.731-7T=)
n.845-7T=
c.49-7T= (n.49-7T=)
2g.101413078A>GCA2577054597RFX8c.901-7T>C (n.901-7T>C)
c.562-7T>C (n.562-7T>C)
c.775-7T>C (n.775-7T>C)
c.688-7T>C (n.688-7T>C)
c.*278-7T>C (n.*278-7T>C)
c.790-7T>C (n.790-7T>C)
c.472-7T>C (n.472-7T>C)
c.274-7T>C (n.274-7T>C)
c.731-7T>C (n.731-7T>C)
n.845-7T>C
c.49-7T>C (n.49-7T>C)
2g.101413078A>TCA53230276RFX8c.901-7T>A (n.901-7T>A)
c.562-7T>A (n.562-7T>A)
c.775-7T>A (n.775-7T>A)
c.688-7T>A (n.688-7T>A)
c.*278-7T>A (n.*278-7T>A)
c.790-7T>A (n.790-7T>A)
c.472-7T>A (n.472-7T>A)
c.274-7T>A (n.274-7T>A)
c.731-7T>A (n.731-7T>A)
n.845-7T>A
c.49-7T>A (n.49-7T>A)
 dbSNP
2g.101413079T>CCA535107089RFX8c.901-8A>G (n.901-8A>G)
c.562-8A>G (n.562-8A>G)
c.775-8A>G (n.775-8A>G)
c.688-8A>G (n.688-8A>G)
c.*278-8A>G (n.*278-8A>G)
c.790-8A>G (n.790-8A>G)
c.472-8A>G (n.472-8A>G)
c.274-8A>G (n.274-8A>G)
c.731-8A>G (n.731-8A>G)
n.845-8A>G
c.49-8A>G (n.49-8A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.101413079T=CA1274778642RFX8c.901-8A= (n.901-8A=)
c.562-8A= (n.562-8A=)
c.775-8A= (n.775-8A=)
c.688-8A= (n.688-8A=)
c.*278-8A= (n.*278-8A=)
c.790-8A= (n.790-8A=)
c.472-8A= (n.472-8A=)
c.274-8A= (n.274-8A=)
c.731-8A= (n.731-8A=)
n.845-8A=
c.49-8A= (n.49-8A=)
2g.101413080A=CA1274778643RFX8c.901-9T= (n.901-9T=)
c.562-9T= (n.562-9T=)
c.775-9T= (n.775-9T=)
c.688-9T= (n.688-9T=)
c.*278-9T= (n.*278-9T=)
c.790-9T= (n.790-9T=)
c.472-9T= (n.472-9T=)
c.274-9T= (n.274-9T=)
c.731-9T= (n.731-9T=)
n.845-9T=
c.49-9T= (n.49-9T=)
2g.101413080A>GCA535107090RFX8c.901-9T>C (n.901-9T>C)
c.562-9T>C (n.562-9T>C)
c.775-9T>C (n.775-9T>C)
c.688-9T>C (n.688-9T>C)
c.*278-9T>C (n.*278-9T>C)
c.790-9T>C (n.790-9T>C)
c.472-9T>C (n.472-9T>C)
c.274-9T>C (n.274-9T>C)
c.731-9T>C (n.731-9T>C)
n.845-9T>C
c.49-9T>C (n.49-9T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.101413081delCA2751448465RFX8c.901-9del (n.901-9del)
c.562-9del (n.562-9del)
c.775-9del (n.775-9del)
c.688-9del (n.688-9del)
c.*278-9del (n.*278-9del)
c.790-9del (n.790-9del)
c.472-9del (n.472-9del)
c.274-9del (n.274-9del)
c.731-9del (n.731-9del)
n.845-9del
c.49-9del (n.49-9del)
2g.101413081A=CA1274778644RFX8c.901-10T= (n.901-10T=)
c.562-10T= (n.562-10T=)
c.775-10T= (n.775-10T=)
c.688-10T= (n.688-10T=)
c.*278-10T= (n.*278-10T=)
c.790-10T= (n.790-10T=)
c.472-10T= (n.472-10T=)
c.274-10T= (n.274-10T=)
c.731-10T= (n.731-10T=)
n.845-10T=
c.49-10T= (n.49-10T=)
2g.101413081A>CCA2581802055RFX8c.901-10T>G (n.901-10T>G)
c.562-10T>G (n.562-10T>G)
c.775-10T>G (n.775-10T>G)
c.688-10T>G (n.688-10T>G)
c.*278-10T>G (n.*278-10T>G)
c.790-10T>G (n.790-10T>G)
c.472-10T>G (n.472-10T>G)
c.274-10T>G (n.274-10T>G)
c.731-10T>G (n.731-10T>G)
n.845-10T>G
c.49-10T>G (n.49-10T>G)
2g.101413081A>GCA1806437RFX8c.901-10T>C (n.901-10T>C)
c.562-10T>C (n.562-10T>C)
c.775-10T>C (n.775-10T>C)
c.688-10T>C (n.688-10T>C)
c.*278-10T>C (n.*278-10T>C)
c.790-10T>C (n.790-10T>C)
c.472-10T>C (n.472-10T>C)
c.274-10T>C (n.274-10T>C)
c.731-10T>C (n.731-10T>C)
n.845-10T>C
c.49-10T>C (n.49-10T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.101413081A>TCA2581802056RFX8c.901-10T>A (n.901-10T>A)
c.562-10T>A (n.562-10T>A)
c.775-10T>A (n.775-10T>A)
c.688-10T>A (n.688-10T>A)
c.*278-10T>A (n.*278-10T>A)
c.790-10T>A (n.790-10T>A)
c.472-10T>A (n.472-10T>A)
c.274-10T>A (n.274-10T>A)
c.731-10T>A (n.731-10T>A)
n.845-10T>A
c.49-10T>A (n.49-10T>A)
2g.101413082C>ACA1274778646RFX8c.901-11G>T (n.901-11G>T)
c.562-11G>T (n.562-11G>T)
c.775-11G>T (n.775-11G>T)
c.688-11G>T (n.688-11G>T)
c.*278-11G>T (n.*278-11G>T)
c.790-11G>T (n.790-11G>T)
c.472-11G>T (n.472-11G>T)
c.274-11G>T (n.274-11G>T)
c.731-11G>T (n.731-11G>T)
n.845-11G>T
c.49-11G>T (n.49-11G>T)
 dbSNP
2g.101413082C=CA1274778645RFX8c.901-11G= (n.901-11G=)
c.562-11G= (n.562-11G=)
c.775-11G= (n.775-11G=)
c.688-11G= (n.688-11G=)
c.*278-11G= (n.*278-11G=)
c.790-11G= (n.790-11G=)
c.472-11G= (n.472-11G=)
c.274-11G= (n.274-11G=)
c.731-11G= (n.731-11G=)
n.845-11G=
c.49-11G= (n.49-11G=)
2g.101413082C>TCA2699792612RFX8c.901-11G>A (n.901-11G>A)
c.562-11G>A (n.562-11G>A)
c.775-11G>A (n.775-11G>A)
c.688-11G>A (n.688-11G>A)
c.*278-11G>A (n.*278-11G>A)
c.790-11G>A (n.790-11G>A)
c.472-11G>A (n.472-11G>A)
c.274-11G>A (n.274-11G>A)
c.731-11G>A (n.731-11G>A)
n.845-11G>A
c.49-11G>A (n.49-11G>A)
 dbSNP
2g.101413083A=CA1274778647RFX8c.901-12T= (n.901-12T=)
c.562-12T= (n.562-12T=)
c.775-12T= (n.775-12T=)
c.688-12T= (n.688-12T=)
c.*278-12T= (n.*278-12T=)
c.790-12T= (n.790-12T=)
c.472-12T= (n.472-12T=)
c.274-12T= (n.274-12T=)
c.731-12T= (n.731-12T=)
n.845-12T=
c.49-12T= (n.49-12T=)
2g.101413083A>CCA535107091RFX8c.901-12T>G (n.901-12T>G)
c.562-12T>G (n.562-12T>G)
c.775-12T>G (n.775-12T>G)
c.688-12T>G (n.688-12T>G)
c.*278-12T>G (n.*278-12T>G)
c.790-12T>G (n.790-12T>G)
c.472-12T>G (n.472-12T>G)
c.274-12T>G (n.274-12T>G)
c.731-12T>G (n.731-12T>G)
n.845-12T>G
c.49-12T>G (n.49-12T>G)
 dbSNP gnomAD v2 gnomAD v4
2g.101413083A>GCA2660437699RFX8c.901-12T>C (n.901-12T>C)
c.562-12T>C (n.562-12T>C)
c.775-12T>C (n.775-12T>C)
c.688-12T>C (n.688-12T>C)
c.*278-12T>C (n.*278-12T>C)
c.790-12T>C (n.790-12T>C)
c.472-12T>C (n.472-12T>C)
c.274-12T>C (n.274-12T>C)
c.731-12T>C (n.731-12T>C)
n.845-12T>C
c.49-12T>C (n.49-12T>C)
 gnomAD v4
2g.101413084G>ACA535107092RFX8c.901-13C>T (n.901-13C>T)
c.562-13C>T (n.562-13C>T)
c.775-13C>T (n.775-13C>T)
c.688-13C>T (n.688-13C>T)
c.*278-13C>T (n.*278-13C>T)
c.790-13C>T (n.790-13C>T)
c.472-13C>T (n.472-13C>T)
c.274-13C>T (n.274-13C>T)
c.731-13C>T (n.731-13C>T)
n.845-13C>T
c.49-13C>T (n.49-13C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.101413084G>CCA2660437700RFX8c.901-13C>G (n.901-13C>G)
c.562-13C>G (n.562-13C>G)
c.775-13C>G (n.775-13C>G)
c.688-13C>G (n.688-13C>G)
c.*278-13C>G (n.*278-13C>G)
c.790-13C>G (n.790-13C>G)
c.472-13C>G (n.472-13C>G)
c.274-13C>G (n.274-13C>G)
c.731-13C>G (n.731-13C>G)
n.845-13C>G
c.49-13C>G (n.49-13C>G)
 gnomAD v4
2g.101413084G=CA1274778648RFX8c.901-13C= (n.901-13C=)
c.562-13C= (n.562-13C=)
c.775-13C= (n.775-13C=)
c.688-13C= (n.688-13C=)
c.*278-13C= (n.*278-13C=)
c.790-13C= (n.790-13C=)
c.472-13C= (n.472-13C=)
c.274-13C= (n.274-13C=)
c.731-13C= (n.731-13C=)
n.845-13C=
c.49-13C= (n.49-13C=)
2g.101413085G>ACA1274778650RFX8c.901-14C>T (n.901-14C>T)
c.562-14C>T (n.562-14C>T)
c.775-14C>T (n.775-14C>T)
c.688-14C>T (n.688-14C>T)
c.*278-14C>T (n.*278-14C>T)
c.790-14C>T (n.790-14C>T)
c.472-14C>T (n.472-14C>T)
c.274-14C>T (n.274-14C>T)
c.731-14C>T (n.731-14C>T)
n.845-14C>T
c.49-14C>T (n.49-14C>T)
 dbSNP
2g.101413085G=CA1274778649RFX8c.901-14C= (n.901-14C=)
c.562-14C= (n.562-14C=)
c.775-14C= (n.775-14C=)
c.688-14C= (n.688-14C=)
c.*278-14C= (n.*278-14C=)
c.790-14C= (n.790-14C=)
c.472-14C= (n.472-14C=)
c.274-14C= (n.274-14C=)
c.731-14C= (n.731-14C=)
n.845-14C=
c.49-14C= (n.49-14C=)
2g.101413085G>TCA2660437701RFX8c.901-14C>A (n.901-14C>A)
c.562-14C>A (n.562-14C>A)
c.775-14C>A (n.775-14C>A)
c.688-14C>A (n.688-14C>A)
c.*278-14C>A (n.*278-14C>A)
c.790-14C>A (n.790-14C>A)
c.472-14C>A (n.472-14C>A)
c.274-14C>A (n.274-14C>A)
c.731-14C>A (n.731-14C>A)
n.845-14C>A
c.49-14C>A (n.49-14C>A)
 gnomAD v4
2g.101413086G>ACA1806438RFX8c.901-15C>T (n.901-15C>T)
c.562-15C>T (n.562-15C>T)
c.775-15C>T (n.775-15C>T)
c.688-15C>T (n.688-15C>T)
c.*278-15C>T (n.*278-15C>T)
c.790-15C>T (n.790-15C>T)
c.472-15C>T (n.472-15C>T)
c.274-15C>T (n.274-15C>T)
c.731-15C>T (n.731-15C>T)
n.845-15C>T
c.49-15C>T (n.49-15C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.101413086G>CCA2581802057RFX8c.901-15C>G (n.901-15C>G)
c.562-15C>G (n.562-15C>G)
c.775-15C>G (n.775-15C>G)
c.688-15C>G (n.688-15C>G)
c.*278-15C>G (n.*278-15C>G)
c.790-15C>G (n.790-15C>G)
c.472-15C>G (n.472-15C>G)
c.274-15C>G (n.274-15C>G)
c.731-15C>G (n.731-15C>G)
n.845-15C>G
c.49-15C>G (n.49-15C>G)
2g.101413086G=CA1274778651RFX8c.901-15C= (n.901-15C=)
c.562-15C= (n.562-15C=)
c.775-15C= (n.775-15C=)
c.688-15C= (n.688-15C=)
c.*278-15C= (n.*278-15C=)
c.790-15C= (n.790-15C=)
c.472-15C= (n.472-15C=)
c.274-15C= (n.274-15C=)
c.731-15C= (n.731-15C=)
n.845-15C=
c.49-15C= (n.49-15C=)
2g.101413086G>TCA2581802058RFX8c.901-15C>A (n.901-15C>A)
c.562-15C>A (n.562-15C>A)
c.775-15C>A (n.775-15C>A)
c.688-15C>A (n.688-15C>A)
c.*278-15C>A (n.*278-15C>A)
c.790-15C>A (n.790-15C>A)
c.472-15C>A (n.472-15C>A)
c.274-15C>A (n.274-15C>A)
c.731-15C>A (n.731-15C>A)
n.845-15C>A
c.49-15C>A (n.49-15C>A)
 gnomAD v4
2g.101413087A=CA1274778652RFX8c.901-16T= (n.901-16T=)
c.562-16T= (n.562-16T=)
c.775-16T= (n.775-16T=)
c.688-16T= (n.688-16T=)
c.*278-16T= (n.*278-16T=)
c.790-16T= (n.790-16T=)
c.472-16T= (n.472-16T=)
c.274-16T= (n.274-16T=)
c.731-16T= (n.731-16T=)
n.845-16T=
c.49-16T= (n.49-16T=)
2g.101413087A>TCA53230281RFX8c.901-16T>A (n.901-16T>A)
c.562-16T>A (n.562-16T>A)
c.775-16T>A (n.775-16T>A)
c.688-16T>A (n.688-16T>A)
c.*278-16T>A (n.*278-16T>A)
c.790-16T>A (n.790-16T>A)
c.472-16T>A (n.472-16T>A)
c.274-16T>A (n.274-16T>A)
c.731-16T>A (n.731-16T>A)
n.845-16T>A
c.49-16T>A (n.49-16T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.101413088G>TCA2660437702RFX8c.901-17C>A (n.901-17C>A)
c.562-17C>A (n.562-17C>A)
c.775-17C>A (n.775-17C>A)
c.688-17C>A (n.688-17C>A)
c.*278-17C>A (n.*278-17C>A)
c.790-17C>A (n.790-17C>A)
c.472-17C>A (n.472-17C>A)
c.274-17C>A (n.274-17C>A)
c.731-17C>A (n.731-17C>A)
n.845-17C>A
c.49-17C>A (n.49-17C>A)
 gnomAD v4
2g.101413089G>ACA1274778653RFX8c.901-18C>T (n.901-18C>T)
c.562-18C>T (n.562-18C>T)
c.775-18C>T (n.775-18C>T)
c.688-18C>T (n.688-18C>T)
c.*278-18C>T (n.*278-18C>T)
c.790-18C>T (n.790-18C>T)
c.472-18C>T (n.472-18C>T)
c.274-18C>T (n.274-18C>T)
c.731-18C>T (n.731-18C>T)
n.845-18C>T
c.49-18C>T (n.49-18C>T)
 dbSNP gnomAD v4
2g.101413089G>CCA2660437703RFX8c.901-18C>G (n.901-18C>G)
c.562-18C>G (n.562-18C>G)
c.775-18C>G (n.775-18C>G)
c.688-18C>G (n.688-18C>G)
c.*278-18C>G (n.*278-18C>G)
c.790-18C>G (n.790-18C>G)
c.472-18C>G (n.472-18C>G)
c.274-18C>G (n.274-18C>G)
c.731-18C>G (n.731-18C>G)
n.845-18C>G
c.49-18C>G (n.49-18C>G)
 gnomAD v4
2g.101413089G=CA1274778654RFX8c.901-18C= (n.901-18C=)
c.562-18C= (n.562-18C=)
c.775-18C= (n.775-18C=)
c.688-18C= (n.688-18C=)
c.*278-18C= (n.*278-18C=)
c.790-18C= (n.790-18C=)
c.472-18C= (n.472-18C=)
c.274-18C= (n.274-18C=)
c.731-18C= (n.731-18C=)
n.845-18C=
c.49-18C= (n.49-18C=)
2g.101413089G>TCA2660437704RFX8c.901-18C>A (n.901-18C>A)
c.562-18C>A (n.562-18C>A)
c.775-18C>A (n.775-18C>A)
c.688-18C>A (n.688-18C>A)
c.*278-18C>A (n.*278-18C>A)
c.790-18C>A (n.790-18C>A)
c.472-18C>A (n.472-18C>A)
c.274-18C>A (n.274-18C>A)
c.731-18C>A (n.731-18C>A)
n.845-18C>A
c.49-18C>A (n.49-18C>A)
 gnomAD v4
2g.101413090C>TCA2577054598RFX8c.901-19G>A (n.901-19G>A)
c.562-19G>A (n.562-19G>A)
c.775-19G>A (n.775-19G>A)
c.688-19G>A (n.688-19G>A)
c.*278-19G>A (n.*278-19G>A)
c.790-19G>A (n.790-19G>A)
c.472-19G>A (n.472-19G>A)
c.274-19G>A (n.274-19G>A)
c.731-19G>A (n.731-19G>A)
n.845-19G>A
c.49-19G>A (n.49-19G>A)
2g.101413091A>GCA2660437705RFX8c.901-20T>C (n.901-20T>C)
c.562-20T>C (n.562-20T>C)
c.775-20T>C (n.775-20T>C)
c.688-20T>C (n.688-20T>C)
c.*278-20T>C (n.*278-20T>C)
c.790-20T>C (n.790-20T>C)
c.472-20T>C (n.472-20T>C)
c.274-20T>C (n.274-20T>C)
c.731-20T>C (n.731-20T>C)
n.845-20T>C
c.49-20T>C (n.49-20T>C)
 gnomAD v4
2g.101413092T>GCA2751448466RFX8c.901-21A>C (n.901-21A>C)
c.562-21A>C (n.562-21A>C)
c.775-21A>C (n.775-21A>C)
c.688-21A>C (n.688-21A>C)
c.*278-21A>C (n.*278-21A>C)
c.790-21A>C (n.790-21A>C)
c.472-21A>C (n.472-21A>C)
c.274-21A>C (n.274-21A>C)
c.731-21A>C (n.731-21A>C)
n.845-21A>C
c.49-21A>C (n.49-21A>C)
2g.101413095T>CCA1034311648RFX8c.901-24A>G (n.901-24A>G)
c.562-24A>G (n.562-24A>G)
c.775-24A>G (n.775-24A>G)
c.688-24A>G (n.688-24A>G)
c.*278-24A>G (n.*278-24A>G)
c.790-24A>G (n.790-24A>G)
c.472-24A>G (n.472-24A>G)
c.274-24A>G (n.274-24A>G)
c.731-24A>G (n.731-24A>G)
n.845-24A>G
c.49-24A>G (n.49-24A>G)
 dbSNP gnomAD v4
2g.101413095T=CA1274778655RFX8c.901-24A= (n.901-24A=)
c.562-24A= (n.562-24A=)
c.775-24A= (n.775-24A=)
c.688-24A= (n.688-24A=)
c.*278-24A= (n.*278-24A=)
c.790-24A= (n.790-24A=)
c.472-24A= (n.472-24A=)
c.274-24A= (n.274-24A=)
c.731-24A= (n.731-24A=)
n.845-24A=
c.49-24A= (n.49-24A=)
2g.101413096dupCA2660437706RFX8c.901-25dup (n.901-25dup)
c.562-25dup (n.562-25dup)
c.775-25dup (n.775-25dup)
c.688-25dup (n.688-25dup)
c.*278-25dup (n.*278-25dup)
c.790-25dup (n.790-25dup)
c.472-25dup (n.472-25dup)
c.274-25dup (n.274-25dup)
c.731-25dup (n.731-25dup)
n.845-25dup
c.49-25dup (n.49-25dup)
 gnomAD v4
2g.101413097C>GCA2660437707RFX8c.901-26G>C (n.901-26G>C)
c.562-26G>C (n.562-26G>C)
c.775-26G>C (n.775-26G>C)
c.688-26G>C (n.688-26G>C)
c.*278-26G>C (n.*278-26G>C)
c.790-26G>C (n.790-26G>C)
c.472-26G>C (n.472-26G>C)
c.274-26G>C (n.274-26G>C)
c.731-26G>C (n.731-26G>C)
n.845-26G>C
c.49-26G>C (n.49-26G>C)
 gnomAD v4
2g.101413097C>TCA2660437708RFX8c.901-26G>A (n.901-26G>A)
c.562-26G>A (n.562-26G>A)
c.775-26G>A (n.775-26G>A)
c.688-26G>A (n.688-26G>A)
c.*278-26G>A (n.*278-26G>A)
c.790-26G>A (n.790-26G>A)
c.472-26G>A (n.472-26G>A)
c.274-26G>A (n.274-26G>A)
c.731-26G>A (n.731-26G>A)
n.845-26G>A
c.49-26G>A (n.49-26G>A)
 gnomAD v4
2g.101413101A>CCA2660437709RFX8c.901-30T>G (n.901-30T>G)
c.562-30T>G (n.562-30T>G)
c.775-30T>G (n.775-30T>G)
c.688-30T>G (n.688-30T>G)
c.*278-30T>G (n.*278-30T>G)
c.790-30T>G (n.790-30T>G)
c.472-30T>G (n.472-30T>G)
c.274-30T>G (n.274-30T>G)
c.731-30T>G (n.731-30T>G)
n.845-30T>G
c.49-30T>G (n.49-30T>G)
 gnomAD v4
2g.101413101A>GCA2751448467RFX8c.901-30T>C (n.901-30T>C)
c.562-30T>C (n.562-30T>C)
c.775-30T>C (n.775-30T>C)
c.688-30T>C (n.688-30T>C)
c.*278-30T>C (n.*278-30T>C)
c.790-30T>C (n.790-30T>C)
c.472-30T>C (n.472-30T>C)
c.274-30T>C (n.274-30T>C)
c.731-30T>C (n.731-30T>C)
n.845-30T>C
c.49-30T>C (n.49-30T>C)
2g.101413102T>CCA1806439RFX8c.901-31A>G (n.901-31A>G)
c.562-31A>G (n.562-31A>G)
c.775-31A>G (n.775-31A>G)
c.688-31A>G (n.688-31A>G)
c.*278-31A>G (n.*278-31A>G)
c.790-31A>G (n.790-31A>G)
c.472-31A>G (n.472-31A>G)
c.274-31A>G (n.274-31A>G)
c.731-31A>G (n.731-31A>G)
n.845-31A>G
c.49-31A>G (n.49-31A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.101413102T=CA1274778656RFX8c.901-31A= (n.901-31A=)
c.562-31A= (n.562-31A=)
c.775-31A= (n.775-31A=)
c.688-31A= (n.688-31A=)
c.*278-31A= (n.*278-31A=)
c.790-31A= (n.790-31A=)
c.472-31A= (n.472-31A=)
c.274-31A= (n.274-31A=)
c.731-31A= (n.731-31A=)
n.845-31A=
c.49-31A= (n.49-31A=)
2g.101413103T>CCA2660437710RFX8c.901-32A>G (n.901-32A>G)
c.562-32A>G (n.562-32A>G)
c.775-32A>G (n.775-32A>G)
c.688-32A>G (n.688-32A>G)
c.*278-32A>G (n.*278-32A>G)
c.790-32A>G (n.790-32A>G)
c.472-32A>G (n.472-32A>G)
c.274-32A>G (n.274-32A>G)
c.731-32A>G (n.731-32A>G)
n.845-32A>G
c.49-32A>G (n.49-32A>G)
 gnomAD v4
2g.101413104delCA2660437711RFX8c.901-33del (n.901-33del)
c.562-33del (n.562-33del)
c.775-33del (n.775-33del)
c.688-33del (n.688-33del)
c.*278-33del (n.*278-33del)
c.790-33del (n.790-33del)
c.472-33del (n.472-33del)
c.274-33del (n.274-33del)
c.731-33del (n.731-33del)
n.845-33del
c.49-33del (n.49-33del)
 gnomAD v4
2g.101413104C>ACA535107093RFX8c.901-33G>T (n.901-33G>T)
c.562-33G>T (n.562-33G>T)
c.775-33G>T (n.775-33G>T)
c.688-33G>T (n.688-33G>T)
c.*278-33G>T (n.*278-33G>T)
c.790-33G>T (n.790-33G>T)
c.472-33G>T (n.472-33G>T)
c.274-33G>T (n.274-33G>T)
c.731-33G>T (n.731-33G>T)
n.845-33G>T
c.49-33G>T (n.49-33G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.101413104C=CA1274778657RFX8c.901-33G= (n.901-33G=)
c.562-33G= (n.562-33G=)
c.775-33G= (n.775-33G=)
c.688-33G= (n.688-33G=)
c.*278-33G= (n.*278-33G=)
c.790-33G= (n.790-33G=)
c.472-33G= (n.472-33G=)
c.274-33G= (n.274-33G=)
c.731-33G= (n.731-33G=)
n.845-33G=
c.49-33G= (n.49-33G=)
2g.101413105A>CCA2660437712RFX8c.901-34T>G (n.901-34T>G)
c.562-34T>G (n.562-34T>G)
c.775-34T>G (n.775-34T>G)
c.688-34T>G (n.688-34T>G)
c.*278-34T>G (n.*278-34T>G)
c.790-34T>G (n.790-34T>G)
c.472-34T>G (n.472-34T>G)
c.274-34T>G (n.274-34T>G)
c.731-34T>G (n.731-34T>G)
n.845-34T>G
c.49-34T>G (n.49-34T>G)
 gnomAD v4
2g.101413106A=CA1274778658RFX8c.901-35T= (n.901-35T=)
c.562-35T= (n.562-35T=)
c.775-35T= (n.775-35T=)
c.688-35T= (n.688-35T=)
c.*278-35T= (n.*278-35T=)
c.790-35T= (n.790-35T=)
c.472-35T= (n.472-35T=)
c.274-35T= (n.274-35T=)
c.731-35T= (n.731-35T=)
n.845-35T=
c.49-35T= (n.49-35T=)
2g.101413106A>CCA2660437713RFX8c.901-35T>G (n.901-35T>G)
c.562-35T>G (n.562-35T>G)
c.775-35T>G (n.775-35T>G)
c.688-35T>G (n.688-35T>G)
c.*278-35T>G (n.*278-35T>G)
c.790-35T>G (n.790-35T>G)
c.472-35T>G (n.472-35T>G)
c.274-35T>G (n.274-35T>G)
c.731-35T>G (n.731-35T>G)
n.845-35T>G
c.49-35T>G (n.49-35T>G)
 gnomAD v4
2g.101413106A>GCA1274778659RFX8c.901-35T>C (n.901-35T>C)
c.562-35T>C (n.562-35T>C)
c.775-35T>C (n.775-35T>C)
c.688-35T>C (n.688-35T>C)
c.*278-35T>C (n.*278-35T>C)
c.790-35T>C (n.790-35T>C)
c.472-35T>C (n.472-35T>C)
c.274-35T>C (n.274-35T>C)
c.731-35T>C (n.731-35T>C)
n.845-35T>C
c.49-35T>C (n.49-35T>C)
 dbSNP
2g.101413107T>CCA754220236RFX8c.901-36A>G (n.901-36A>G)
c.562-36A>G (n.562-36A>G)
c.775-36A>G (n.775-36A>G)
c.688-36A>G (n.688-36A>G)
c.*278-36A>G (n.*278-36A>G)
c.790-36A>G (n.790-36A>G)
c.472-36A>G (n.472-36A>G)
c.274-36A>G (n.274-36A>G)
c.731-36A>G (n.731-36A>G)
n.845-36A>G
c.49-36A>G (n.49-36A>G)
 dbSNP gnomAD v4
2g.101413107T=CA1274778660RFX8c.901-36A= (n.901-36A=)
c.562-36A= (n.562-36A=)
c.775-36A= (n.775-36A=)
c.688-36A= (n.688-36A=)
c.*278-36A= (n.*278-36A=)
c.790-36A= (n.790-36A=)
c.472-36A= (n.472-36A=)
c.274-36A= (n.274-36A=)
c.731-36A= (n.731-36A=)
n.845-36A=
c.49-36A= (n.49-36A=)
2g.101413108C>ACA2660437714RFX8c.901-37G>T (n.901-37G>T)
c.562-37G>T (n.562-37G>T)
c.775-37G>T (n.775-37G>T)
c.688-37G>T (n.688-37G>T)
c.*278-37G>T (n.*278-37G>T)
c.790-37G>T (n.790-37G>T)
c.472-37G>T (n.472-37G>T)
c.274-37G>T (n.274-37G>T)
c.731-37G>T (n.731-37G>T)
n.845-37G>T
c.49-37G>T (n.49-37G>T)
 gnomAD v4
2g.101413108C>TCA2660437715RFX8c.901-37G>A (n.901-37G>A)
c.562-37G>A (n.562-37G>A)
c.775-37G>A (n.775-37G>A)
c.688-37G>A (n.688-37G>A)
c.*278-37G>A (n.*278-37G>A)
c.790-37G>A (n.790-37G>A)
c.472-37G>A (n.472-37G>A)
c.274-37G>A (n.274-37G>A)
c.731-37G>A (n.731-37G>A)
n.845-37G>A
c.49-37G>A (n.49-37G>A)
 gnomAD v4
2g.101413109T>CCA2577054599RFX8c.901-38A>G (n.901-38A>G)
c.562-38A>G (n.562-38A>G)
c.775-38A>G (n.775-38A>G)
c.688-38A>G (n.688-38A>G)
c.*278-38A>G (n.*278-38A>G)
c.790-38A>G (n.790-38A>G)
c.472-38A>G (n.472-38A>G)
c.274-38A>G (n.274-38A>G)
c.731-38A>G (n.731-38A>G)
n.845-38A>G
c.49-38A>G (n.49-38A>G)
2g.101413110G>CCA754220240RFX8c.901-39C>G (n.901-39C>G)
c.562-39C>G (n.562-39C>G)
c.775-39C>G (n.775-39C>G)
c.688-39C>G (n.688-39C>G)
c.*278-39C>G (n.*278-39C>G)
c.790-39C>G (n.790-39C>G)
c.472-39C>G (n.472-39C>G)
c.274-39C>G (n.274-39C>G)
c.731-39C>G (n.731-39C>G)
n.845-39C>G
c.49-39C>G (n.49-39C>G)
 dbSNP gnomAD v4
2g.101413110G=CA1274778661RFX8c.901-39C= (n.901-39C=)
c.562-39C= (n.562-39C=)
c.775-39C= (n.775-39C=)
c.688-39C= (n.688-39C=)
c.*278-39C= (n.*278-39C=)
c.790-39C= (n.790-39C=)
c.472-39C= (n.472-39C=)
c.274-39C= (n.274-39C=)
c.731-39C= (n.731-39C=)
n.845-39C=
c.49-39C= (n.49-39C=)
2g.101413110G>TCA1274778662RFX8c.901-39C>A (n.901-39C>A)
c.562-39C>A (n.562-39C>A)
c.775-39C>A (n.775-39C>A)
c.688-39C>A (n.688-39C>A)
c.*278-39C>A (n.*278-39C>A)
c.790-39C>A (n.790-39C>A)
c.472-39C>A (n.472-39C>A)
c.274-39C>A (n.274-39C>A)
c.731-39C>A (n.731-39C>A)
n.845-39C>A
c.49-39C>A (n.49-39C>A)
 dbSNP gnomAD v4

Number of alleles fetched