Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18787604_18787609delCA16620814COMPc.1021_1026del (p.Glu341_Asp342del)
c.862_867del (p.Glu288_Asp289del)
c.922_927del (p.Glu308_Asp309del)
 ClinVar dbSNP
19g.18787609C>ACA506053105COMPc.1017G>T (p.Thr339=)
c.858G>T (p.Thr286=)
c.918G>T (p.Thr306=)
19g.18787609C=CA2326526119COMPc.1017G= (p.Thr339=)
c.858G= (p.Thr286=)
c.918G= (p.Thr306=)
19g.18787609C>GCA506053106COMPc.1017G>C (p.Thr339=)
c.858G>C (p.Thr286=)
c.918G>C (p.Thr306=)
 gnomAD v4
19g.18787609C>TCA506053107COMPc.1017G>A (p.Thr339=)
c.858G>A (p.Thr286=)
c.918G>A (p.Thr306=)
 dbSNP gnomAD v2 gnomAD v4
19g.18787610G>ACA9316559COMPc.1016C>T (p.Thr339Met)
c.857C>T (p.Thr286Met)
c.917C>T (p.Thr306Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18787610G>CCA404888654COMPc.1016C>G (p.Thr339Arg)
c.857C>G (p.Thr286Arg)
c.917C>G (p.Thr306Arg)
19g.18787610G=CA2326526121COMPc.1016C= (p.Thr339=)
c.857C= (p.Thr286=)
c.917C= (p.Thr306=)
19g.18787610G>TCA404888653COMPc.1016C>A (p.Thr339Lys)
c.857C>A (p.Thr286Lys)
c.917C>A (p.Thr306Lys)
19g.18787611T>ACA404888656COMPc.1015A>T (p.Thr339Ser)
c.856A>T (p.Thr286Ser)
c.916A>T (p.Thr306Ser)
19g.18787611T>CCA404888658COMPc.1015A>G (p.Thr339Ala)
c.856A>G (p.Thr286Ala)
c.916A>G (p.Thr306Ala)
 gnomAD v4
19g.18787611T>GCA404888660COMPc.1015A>C (p.Thr339Pro)
c.856A>C (p.Thr286Pro)
c.916A>C (p.Thr306Pro)
19g.18787611_18787626delinsTGTTGCGCTGGTCTGGCA2326526124COMPc.1000_1015delinsCCAGACCAGCGCAACA (p.Pro334=)
c.841_856delinsCCAGACCAGCGCAACA (p.Pro281=)
c.901_916delinsCCAGACCAGCGCAACA (p.Pro301=)
19g.18787612G>ACA306256713COMPc.1014C>T (p.Asn338=)
c.855C>T (p.Asn285=)
c.915C>T (p.Asn305=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.18787612G>CCA404888676COMPc.1014C>G (p.Asn338Lys)
c.855C>G (p.Asn285Lys)
c.915C>G (p.Asn305Lys)
19g.18787612G=CA2326526130COMPc.1014C= (p.Asn338=)
c.855C= (p.Asn285=)
c.915C= (p.Asn305=)
19g.18787612G>TCA404888678COMPc.1014C>A (p.Asn338Lys)
c.855C>A (p.Asn285Lys)
c.915C>A (p.Asn305Lys)
19g.18787615_18787629delCA915952951COMPc.1000_1014del (p.Pro334_Asn338del)
c.841_855del (p.Pro281_Asn285del)
c.901_915del (p.Pro301_Asn305del)
 ClinVar dbSNP
19g.18787613T>ACA404888681COMPc.1013A>T (p.Asn338Ile)
c.854A>T (p.Asn285Ile)
c.914A>T (p.Asn305Ile)
19g.18787613T>CCA404888682COMPc.1013A>G (p.Asn338Ser)
c.854A>G (p.Asn285Ser)
c.914A>G (p.Asn305Ser)
19g.18787613T>GCA404888683COMPc.1013A>C (p.Asn338Thr)
c.854A>C (p.Asn285Thr)
c.914A>C (p.Asn305Thr)
19g.18787614T>ACA404888684COMPc.1012A>T (p.Asn338Tyr)
c.853A>T (p.Asn285Tyr)
c.913A>T (p.Asn305Tyr)
19g.18787614T>CCA404888685COMPc.1012A>G (p.Asn338Asp)
c.853A>G (p.Asn285Asp)
c.913A>G (p.Asn305Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18787614T>GCA404888686COMPc.1012A>C (p.Asn338His)
c.853A>C (p.Asn285His)
c.913A>C (p.Asn305His)
19g.18787614T=CA2326526133COMPc.1012A= (p.Asn338=)
c.853A= (p.Asn285=)
c.913A= (p.Asn305=)
19g.18787615G>ACA506053108COMPc.1011C>T (p.Arg337=)
c.852C>T (p.Arg284=)
c.912C>T (p.Arg304=)
19g.18787615G>CCA506053109COMPc.1011C>G (p.Arg337=)
c.852C>G (p.Arg284=)
c.912C>G (p.Arg304=)
19g.18787615G>TCA506053110COMPc.1011C>A (p.Arg337=)
c.852C>A (p.Arg284=)
c.912C>A (p.Arg304=)
19g.18787616C>ACA404888691COMPc.1010G>T (p.Arg337Leu)
c.851G>T (p.Arg284Leu)
c.911G>T (p.Arg304Leu)
19g.18787616C=CA2326526136COMPc.1010G= (p.Arg337=)
c.851G= (p.Arg284=)
c.911G= (p.Arg304=)
19g.18787616C>GCA404888697COMPc.1010G>C (p.Arg337Pro)
c.851G>C (p.Arg284Pro)
c.911G>C (p.Arg304Pro)
19g.18787616C>TCA404888689COMPc.1010G>A (p.Arg337His)
c.851G>A (p.Arg284His)
c.911G>A (p.Arg304His)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.18787617G>ACA404888701COMPc.1009C>T (p.Arg337Cys)
c.850C>T (p.Arg284Cys)
c.910C>T (p.Arg304Cys)
 gnomAD v4 COSMIC
19g.18787617G>CCA404888703COMPc.1009C>G (p.Arg337Gly)
c.850C>G (p.Arg284Gly)
c.910C>G (p.Arg304Gly)
19g.18787617G=CA2326526138COMPc.1009C= (p.Arg337=)
c.850C= (p.Arg284=)
c.910C= (p.Arg304=)
19g.18787617G>TCA404888704COMPc.1009C>A (p.Arg337Ser)
c.850C>A (p.Arg284Ser)
c.910C>A (p.Arg304Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18787618C>ACA404888707COMPc.1008G>T (p.Gln336His)
c.849G>T (p.Gln283His)
c.909G>T (p.Gln303His)
19g.18787618C>GCA404888710COMPc.1008G>C (p.Gln336His)
c.849G>C (p.Gln283His)
c.909G>C (p.Gln303His)
19g.18787618C>TCA506053111COMPc.1008G>A (p.Gln336=)
c.849G>A (p.Gln283=)
c.909G>A (p.Gln303=)
 COSMIC
19g.18787619T>ACA404888719COMPc.1007A>T (p.Gln336Leu)
c.848A>T (p.Gln283Leu)
c.908A>T (p.Gln303Leu)
19g.18787619T>CCA404888714COMPc.1007A>G (p.Gln336Arg)
c.848A>G (p.Gln283Arg)
c.908A>G (p.Gln303Arg)
19g.18787619T>GCA404888716COMPc.1007A>C (p.Gln336Pro)
c.848A>C (p.Gln283Pro)
c.908A>C (p.Gln303Pro)
19g.18787620G>ACA404888723COMPc.1006C>T (p.Gln336Ter)
c.847C>T (p.Gln283Ter)
c.907C>T (p.Gln303Ter)
19g.18787620G>CCA404888725COMPc.1006C>G (p.Gln336Glu)
c.847C>G (p.Gln283Glu)
c.907C>G (p.Gln303Glu)
19g.18787620G>TCA404888726COMPc.1006C>A (p.Gln336Lys)
c.847C>A (p.Gln283Lys)
c.907C>A (p.Gln303Lys)
19g.18787621G>ACA506053112COMPc.1005C>T (p.Asp335=)
c.846C>T (p.Asp282=)
c.906C>T (p.Asp302=)
19g.18787621G>CCA404888728COMPc.1005C>G (p.Asp335Glu)
c.846C>G (p.Asp282Glu)
c.906C>G (p.Asp302Glu)
19g.18787621G>TCA404888731COMPc.1005C>A (p.Asp335Glu)
c.846C>A (p.Asp282Glu)
c.906C>A (p.Asp302Glu)
19g.18787622T>ACA404888732COMPc.1004A>T (p.Asp335Val)
c.845A>T (p.Asp282Val)
c.905A>T (p.Asp302Val)
19g.18787622T>CCA404888736COMPc.1004A>G (p.Asp335Gly)
c.845A>G (p.Asp282Gly)
c.905A>G (p.Asp302Gly)
19g.18787622T>GCA404888734COMPc.1004A>C (p.Asp335Ala)
c.845A>C (p.Asp282Ala)
c.905A>C (p.Asp302Ala)
 gnomAD v4
19g.18787623C>ACA404888741COMPc.1003G>T (p.Asp335Tyr)
c.844G>T (p.Asp282Tyr)
c.904G>T (p.Asp302Tyr)
 COSMIC
19g.18787623C>GCA404888745COMPc.1003G>C (p.Asp335His)
c.844G>C (p.Asp282His)
c.904G>C (p.Asp302His)
19g.18787623C>TCA404888743COMPc.1003G>A (p.Asp335Asn)
c.844G>A (p.Asp282Asn)
c.904G>A (p.Asp302Asn)
19g.18787624T>ACA506053115COMPc.1002A>T (p.Pro334=)
c.843A>T (p.Pro281=)
c.903A>T (p.Pro301=)
19g.18787624T>CCA506053113COMPc.1002A>G (p.Pro334=)
c.843A>G (p.Pro281=)
c.903A>G (p.Pro301=)
 dbSNP
19g.18787624T>GCA506053114COMPc.1002A>C (p.Pro334=)
c.843A>C (p.Pro281=)
c.903A>C (p.Pro301=)
 gnomAD v4
19g.18787624T=CA2326526142COMPc.1002A= (p.Pro334=)
c.843A= (p.Pro281=)
c.903A= (p.Pro301=)
19g.18787625G>ACA404888748COMPc.1001C>T (p.Pro334Leu)
c.842C>T (p.Pro281Leu)
c.902C>T (p.Pro301Leu)
19g.18787625G>CCA404888763COMPc.1001C>G (p.Pro334Arg)
c.842C>G (p.Pro281Arg)
c.902C>G (p.Pro301Arg)
19g.18787625G>TCA404888759COMPc.1001C>A (p.Pro334Gln)
c.842C>A (p.Pro281Gln)
c.902C>A (p.Pro301Gln)
19g.18787626G>ACA404888766COMPc.1000C>T (p.Pro334Ser)
c.841C>T (p.Pro281Ser)
c.901C>T (p.Pro301Ser)
19g.18787626G>CCA404888770COMPc.1000C>G (p.Pro334Ala)
c.841C>G (p.Pro281Ala)
c.901C>G (p.Pro301Ala)
19g.18787626G>TCA404888767COMPc.1000C>A (p.Pro334Thr)
c.841C>A (p.Pro281Thr)
c.901C>A (p.Pro301Thr)
 gnomAD v4
19g.18787627G>ACA506053116COMPc.999C>T (p.Asn333=)
c.840C>T (p.Asn280=)
c.900C>T (p.Asn300=)
19g.18787627G>CCA404888773COMPc.999C>G (p.Asn333Lys)
c.840C>G (p.Asn280Lys)
c.900C>G (p.Asn300Lys)
19g.18787627G>TCA404888774COMPc.999C>A (p.Asn333Lys)
c.840C>A (p.Asn280Lys)
c.900C>A (p.Asn300Lys)
19g.18787628T>ACA404888776COMPc.998A>T (p.Asn333Ile)
c.839A>T (p.Asn280Ile)
c.899A>T (p.Asn300Ile)
19g.18787628T>CCA404888778COMPc.998A>G (p.Asn333Ser)
c.839A>G (p.Asn280Ser)
c.899A>G (p.Asn300Ser)
19g.18787628T>GCA404888781COMPc.998A>C (p.Asn333Thr)
c.839A>C (p.Asn280Thr)
c.899A>C (p.Asn300Thr)
19g.18787629T>ACA404888782COMPc.997A>T (p.Asn333Tyr)
c.838A>T (p.Asn280Tyr)
c.898A>T (p.Asn300Tyr)
19g.18787629T>CCA404888783COMPc.997A>G (p.Asn333Asp)
c.838A>G (p.Asn280Asp)
c.898A>G (p.Asn300Asp)
19g.18787629T>GCA404888785COMPc.997A>C (p.Asn333His)
c.838A>C (p.Asn280His)
c.898A>C (p.Asn300His)
 dbSNP gnomAD v3 gnomAD v4
19g.18787629T=CA2326526145COMPc.997A= (p.Asn333=)
c.838A= (p.Asn280=)
c.898A= (p.Asn300=)
19g.18787630C>ACA506053117COMPc.996G>T (p.Arg332=)
c.837G>T (p.Arg279=)
c.897G>T (p.Arg299=)
19g.18787630C>GCA506053118COMPc.996G>C (p.Arg332=)
c.837G>C (p.Arg279=)
c.897G>C (p.Arg299=)
 gnomAD v4
19g.18787630C>TCA506053119COMPc.996G>A (p.Arg332=)
c.837G>A (p.Arg279=)
c.897G>A (p.Arg299=)
19g.18787631C>ACA404888791COMPc.995G>T (p.Arg332Leu)
c.836G>T (p.Arg279Leu)
c.896G>T (p.Arg299Leu)
 gnomAD v4
19g.18787631C=CA2326526149COMPc.995G= (p.Arg332=)
c.836G= (p.Arg279=)
c.896G= (p.Arg299=)
19g.18787631C>GCA404888794COMPc.995G>C (p.Arg332Pro)
c.836G>C (p.Arg279Pro)
c.896G>C (p.Arg299Pro)
19g.18787631C>TCA306256718COMPc.995G>A (p.Arg332Gln)
c.836G>A (p.Arg279Gln)
c.896G>A (p.Arg299Gln)
 dbSNP gnomAD v4
19g.18787632G>ACA306256723COMPc.994C>T (p.Arg332Trp)
c.835C>T (p.Arg279Trp)
c.895C>T (p.Arg299Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18787632G>CCA404888805COMPc.994C>G (p.Arg332Gly)
c.835C>G (p.Arg279Gly)
c.895C>G (p.Arg299Gly)
19g.18787632G=CA2326526157COMPc.994C= (p.Arg332=)
c.835C= (p.Arg279=)
c.895C= (p.Arg299=)
19g.18787632G>TCA9316560COMPc.994C>A (p.Arg332=)
c.835C>A (p.Arg279=)
c.895C>A (p.Arg299=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787633C>ACA506053120COMPc.993G>T (p.Val331=)
c.834G>T (p.Val278=)
c.894G>T (p.Val298=)
19g.18787633C>GCA506053121COMPc.993G>C (p.Val331=)
c.834G>C (p.Val278=)
c.894G>C (p.Val298=)
19g.18787633C>TCA506053122COMPc.993G>A (p.Val331=)
c.834G>A (p.Val278=)
c.894G>A (p.Val298=)
19g.18787634delCA2582001305COMPc.992del (p.Val331GlyfsTer?)
c.833del (p.Val278GlyfsTer?)
c.893del (p.Val298GlyfsTer?)
 gnomAD v3 gnomAD v4
19g.18787634A=CA2326526163COMPc.992T= (p.Val331=)
c.833T= (p.Val278=)
c.893T= (p.Val298=)
19g.18787634A>CCA404890313COMPc.992T>G (p.Val331Gly)
c.833T>G (p.Val278Gly)
c.893T>G (p.Val298Gly)
19g.18787634A>GCA404890317COMPc.992T>C (p.Val331Ala)
c.833T>C (p.Val278Ala)
c.893T>C (p.Val298Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.18787634A>TCA404890321COMPc.992T>A (p.Val331Glu)
c.833T>A (p.Val278Glu)
c.893T>A (p.Val298Glu)
19g.18787635C>ACA404890324COMPc.991G>T (p.Val331Leu)
c.832G>T (p.Val278Leu)
c.892G>T (p.Val298Leu)
19g.18787635C>GCA404890325COMPc.991G>C (p.Val331Leu)
c.832G>C (p.Val278Leu)
c.892G>C (p.Val298Leu)
19g.18787635C>TCA404890329COMPc.991G>A (p.Val331Met)
c.832G>A (p.Val278Met)
c.892G>A (p.Val298Met)
 gnomAD v3 gnomAD v4
19g.18787636C>ACA506053123COMPc.990G>T (p.Leu330=)
c.831G>T (p.Leu277=)
c.891G>T (p.Leu297=)
19g.18787636C=CA2326526166COMPc.990G= (p.Leu330=)
c.831G= (p.Leu277=)
c.891G= (p.Leu297=)
19g.18787636C>GCA506053124COMPc.990G>C (p.Leu330=)
c.831G>C (p.Leu277=)
c.891G>C (p.Leu297=)
19g.18787636C>TCA506053125COMPc.990G>A (p.Leu330=)
c.831G>A (p.Leu277=)
c.891G>A (p.Leu297=)
 dbSNP gnomAD v4
19g.18787637A=CA2326526170COMPc.989T= (p.Leu330=)
c.830T= (p.Leu277=)
c.890T= (p.Leu297=)
19g.18787637A>CCA404890335COMPc.989T>G (p.Leu330Arg)
c.830T>G (p.Leu277Arg)
c.890T>G (p.Leu297Arg)
19g.18787637A>GCA404890341COMPc.989T>C (p.Leu330Pro)
c.830T>C (p.Leu277Pro)
c.890T>C (p.Leu297Pro)
 dbSNP gnomAD v2 gnomAD v4
19g.18787637A>TCA404890348COMPc.989T>A (p.Leu330Gln)
c.830T>A (p.Leu277Gln)
c.890T>A (p.Leu297Gln)
19g.18787638G>ACA506053126COMPc.988C>T (p.Leu330=)
c.829C>T (p.Leu277=)
c.889C>T (p.Leu297=)
 COSMIC
19g.18787638G>CCA404890356COMPc.988C>G (p.Leu330Val)
c.829C>G (p.Leu277Val)
c.889C>G (p.Leu297Val)
 ClinVar gnomAD v4
19g.18787638G>TCA404890360COMPc.988C>A (p.Leu330Met)
c.829C>A (p.Leu277Met)
c.889C>A (p.Leu297Met)
19g.18787640_18787643delCA2695228443COMPc.985_988del (p.Pro329TrpfsTer?)
c.826_829del (p.Pro276TrpfsTer?)
c.886_889del (p.Pro296TrpfsTer?)
19g.18787639C>ACA506053127COMPc.987G>T (p.Pro329=)
c.828G>T (p.Pro276=)
c.888G>T (p.Pro296=)
19g.18787639C=CA2326526174COMPc.987G= (p.Pro329=)
c.828G= (p.Pro276=)
c.888G= (p.Pro296=)
19g.18787639C>GCA506053128COMPc.987G>C (p.Pro329=)
c.828G>C (p.Pro276=)
c.888G>C (p.Pro296=)
19g.18787639C>TCA506053129COMPc.987G>A (p.Pro329=)
c.828G>A (p.Pro276=)
c.888G>A (p.Pro296=)
 dbSNP gnomAD v2 gnomAD v4
19g.18787640G>ACA404890373COMPc.986C>T (p.Pro329Leu)
c.827C>T (p.Pro276Leu)
c.887C>T (p.Pro296Leu)
19g.18787640G>CCA404890378COMPc.986C>G (p.Pro329Arg)
c.827C>G (p.Pro276Arg)
c.887C>G (p.Pro296Arg)
19g.18787640G>TCA404890368COMPc.986C>A (p.Pro329Gln)
c.827C>A (p.Pro276Gln)
c.887C>A (p.Pro296Gln)
19g.18787641G>ACA404890382COMPc.985C>T (p.Pro329Ser)
c.826C>T (p.Pro276Ser)
c.886C>T (p.Pro296Ser)
19g.18787641G>CCA404890405COMPc.985C>G (p.Pro329Ala)
c.826C>G (p.Pro276Ala)
c.886C>G (p.Pro296Ala)
19g.18787641G>TCA404890411COMPc.985C>A (p.Pro329Thr)
c.826C>A (p.Pro276Thr)
c.886C>A (p.Pro296Thr)
19g.18787642G>ACA506053130COMPc.984C>T (p.Cys328=)
c.825C>T (p.Cys275=)
c.885C>T (p.Cys295=)
19g.18787642G>CCA404890417COMPc.984C>G (p.Cys328Trp)
c.825C>G (p.Cys275Trp)
c.885C>G (p.Cys295Trp)
 ClinVar dbSNP
19g.18787642G=CA2326526177COMPc.984C= (p.Cys328=)
c.825C= (p.Cys275=)
c.885C= (p.Cys295=)
19g.18787642G>TCA404890419COMPc.984C>A (p.Cys328Ter)
c.825C>A (p.Cys275Ter)
c.885C>A (p.Cys295Ter)
19g.18787643C>ACA404890434COMPc.983G>T (p.Cys328Phe)
c.824G>T (p.Cys275Phe)
c.884G>T (p.Cys295Phe)
 ClinVar dbSNP
19g.18787643C>GCA404890422COMPc.983G>C (p.Cys328Ser)
c.824G>C (p.Cys275Ser)
c.884G>C (p.Cys295Ser)
19g.18787643C>TCA404890430COMPc.983G>A (p.Cys328Tyr)
c.824G>A (p.Cys275Tyr)
c.884G>A (p.Cys295Tyr)
 ClinVar
19g.18787644A=CA2326526182COMPc.982T= (p.Cys328=)
c.823T= (p.Cys275=)
c.883T= (p.Cys295=)
19g.18787644A>CCA404890440COMPc.982T>G (p.Cys328Gly)
c.823T>G (p.Cys275Gly)
c.883T>G (p.Cys295Gly)
19g.18787644A>GCA254702COMPc.982T>C (p.Cys328Arg)
c.823T>C (p.Cys275Arg)
c.883T>C (p.Cys295Arg)
 ClinVar dbSNP
19g.18787644A>TCA404890451COMPc.982T>A (p.Cys328Ser)
c.823T>A (p.Cys275Ser)
c.883T>A (p.Cys295Ser)
19g.18787645G>ACA506053131COMPc.981C>T (p.Asn327=)
c.822C>T (p.Asn274=)
c.882C>T (p.Asn294=)
 dbSNP
19g.18787645G>CCA404890456COMPc.981C>G (p.Asn327Lys)
c.822C>G (p.Asn274Lys)
c.882C>G (p.Asn294Lys)
19g.18787645G>TCA404890459COMPc.981C>A (p.Asn327Lys)
c.822C>A (p.Asn274Lys)
c.882C>A (p.Asn294Lys)
19g.18787646T>ACA404890468COMPc.980A>T (p.Asn327Ile)
c.821A>T (p.Asn274Ile)
c.881A>T (p.Asn294Ile)
19g.18787646T>CCA404890482COMPc.980A>G (p.Asn327Ser)
c.821A>G (p.Asn274Ser)
c.881A>G (p.Asn294Ser)
 gnomAD v4
19g.18787646T>GCA404890474COMPc.980A>C (p.Asn327Thr)
c.821A>C (p.Asn274Thr)
c.881A>C (p.Asn294Thr)
19g.18787647T>ACA404890489COMPc.979A>T (p.Asn327Tyr)
c.820A>T (p.Asn274Tyr)
c.880A>T (p.Asn294Tyr)
19g.18787647T>CCA404890494COMPc.979A>G (p.Asn327Asp)
c.820A>G (p.Asn274Asp)
c.880A>G (p.Asn294Asp)
 gnomAD v4
19g.18787647T>GCA404890498COMPc.979A>C (p.Asn327His)
c.820A>C (p.Asn274His)
c.880A>C (p.Asn294His)
19g.18787648G>ACA506053132COMPc.978C>T (p.Asp326=)
c.819C>T (p.Asp273=)
c.879C>T (p.Asp293=)
 dbSNP gnomAD v4
19g.18787648G>CCA404890520COMPc.978C>G (p.Asp326Glu)
c.819C>G (p.Asp273Glu)
c.879C>G (p.Asp293Glu)
19g.18787648G=CA2326526186COMPc.978C= (p.Asp326=)
c.819C= (p.Asp273=)
c.879C= (p.Asp293=)
19g.18787648G>TCA404890527COMPc.978C>A (p.Asp326Glu)
c.819C>A (p.Asp273Glu)
c.879C>A (p.Asp293Glu)
19g.18787649T>ACA404890535COMPc.977A>T (p.Asp326Val)
c.818A>T (p.Asp273Val)
c.878A>T (p.Asp293Val)
19g.18787649T>CCA404890539COMPc.977A>G (p.Asp326Gly)
c.818A>G (p.Asp273Gly)
c.878A>G (p.Asp293Gly)
19g.18787649T>GCA404890542COMPc.977A>C (p.Asp326Ala)
c.818A>C (p.Asp273Ala)
c.878A>C (p.Asp293Ala)
19g.18787650C>ACA404890548COMPc.976G>T (p.Asp326Tyr)
c.817G>T (p.Asp273Tyr)
c.877G>T (p.Asp293Tyr)
19g.18787650C>GCA404890554COMPc.976G>C (p.Asp326His)
c.817G>C (p.Asp273His)
c.877G>C (p.Asp293His)
19g.18787650C>TCA404890558COMPc.976G>A (p.Asp326Asn)
c.817G>A (p.Asp273Asn)
c.877G>A (p.Asp293Asn)
 ClinVar dbSNP
19g.18787651C>ACA404890566COMPc.976-1G>T (n.976-1G>T)
c.817-1G>T (n.817-1G>T)
c.877-1G>T (n.877-1G>T)
19g.18787651C>GCA404890570COMPc.976-1G>C (n.976-1G>C)
c.817-1G>C (n.817-1G>C)
c.877-1G>C (n.877-1G>C)
 gnomAD v4
19g.18787651C>TCA404890562COMPc.976-1G>A (n.976-1G>A)
c.817-1G>A (n.817-1G>A)
c.877-1G>A (n.877-1G>A)
 gnomAD v4
19g.18787652T>ACA404890574COMPc.976-2A>T (n.976-2A>T)
c.817-2A>T (n.817-2A>T)
c.877-2A>T (n.877-2A>T)
19g.18787652T>CCA404890578COMPc.976-2A>G (n.976-2A>G)
c.817-2A>G (n.817-2A>G)
c.877-2A>G (n.877-2A>G)
19g.18787652T>GCA404890581COMPc.976-2A>C (n.976-2A>C)
c.817-2A>C (n.817-2A>C)
c.877-2A>C (n.877-2A>C)
19g.18787653G>TCA645610811COMPc.976-3C>A (n.976-3C>A)
c.817-3C>A (n.817-3C>A)
c.877-3C>A (n.877-3C>A)
 COSMIC
19g.18787654G>ACA306256738COMPc.976-4C>T (n.976-4C>T)
c.817-4C>T (n.817-4C>T)
c.877-4C>T (n.877-4C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.18787654G=CA2326526189COMPc.976-4C= (n.976-4C=)
c.817-4C= (n.817-4C=)
c.877-4C= (n.877-4C=)
19g.18787659C>GCA2813847477COMPc.976-9G>C (n.976-9G>C)
c.817-9G>C (n.817-9G>C)
c.877-9G>C (n.877-9G>C)
19g.18787659C>TCA2583622634COMPc.976-9G>A (n.976-9G>A)
c.817-9G>A (n.817-9G>A)
c.877-9G>A (n.877-9G>A)
 gnomAD v4
19g.18787662G>CCA2583622635COMPc.976-12C>G (n.976-12C>G)
c.817-12C>G (n.817-12C>G)
c.877-12C>G (n.877-12C>G)
 gnomAD v4
19g.18787662G=CA2326526191COMPc.976-12C= (n.976-12C=)
c.817-12C= (n.817-12C=)
c.877-12C= (n.877-12C=)
19g.18787662G>TCA632375737COMPc.976-12C>A (n.976-12C>A)
c.817-12C>A (n.817-12C>A)
c.877-12C>A (n.877-12C>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18787663G>ACA2326526195COMPc.976-13C>T (n.976-13C>T)
c.817-13C>T (n.817-13C>T)
c.877-13C>T (n.877-13C>T)
 dbSNP
19g.18787663G=CA2326526193COMPc.976-13C= (n.976-13C=)
c.817-13C= (n.817-13C=)
c.877-13C= (n.877-13C=)
19g.18787663G>TCA2583622636COMPc.976-13C>A (n.976-13C>A)
c.817-13C>A (n.817-13C>A)
c.877-13C>A (n.877-13C>A)
 gnomAD v4
19g.18787665G>TCA657075345COMPc.976-15C>A (n.976-15C>A)
c.817-15C>A (n.817-15C>A)
c.877-15C>A (n.877-15C>A)
 COSMIC
19g.18787665_18787681dupCA2583622637COMPc.976-31_976-15dup (n.976-31_976-15dup)
c.817-31_817-15dup (n.817-31_817-15dup)
c.877-31_877-15dup (n.877-31_877-15dup)
 gnomAD v4
19g.18787667G>ACA994237334COMPc.976-17C>T (n.976-17C>T)
c.817-17C>T (n.817-17C>T)
c.877-17C>T (n.877-17C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.18787667G=CA2326526196COMPc.976-17C= (n.976-17C=)
c.817-17C= (n.817-17C=)
c.877-17C= (n.877-17C=)
19g.18787668T>CCA2583622638COMPc.976-18A>G (n.976-18A>G)
c.817-18A>G (n.817-18A>G)
c.877-18A>G (n.877-18A>G)
 gnomAD v4
19g.18787672G>TCA2583622639COMPc.976-22C>A (n.976-22C>A)
c.817-22C>A (n.817-22C>A)
c.877-22C>A (n.877-22C>A)
 gnomAD v4
19g.18787673G>ACA9316561COMPc.976-23C>T (n.976-23C>T)
c.817-23C>T (n.817-23C>T)
c.877-23C>T (n.877-23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787673G=CA2326526199COMPc.976-23C= (n.976-23C=)
c.817-23C= (n.817-23C=)
c.877-23C= (n.877-23C=)
19g.18787674G>TCA2583622640COMPc.976-24C>A (n.976-24C>A)
c.817-24C>A (n.817-24C>A)
c.877-24C>A (n.877-24C>A)
 gnomAD v4
19g.18787676G>ACA9316562COMPc.976-26C>T (n.976-26C>T)
c.817-26C>T (n.817-26C>T)
c.877-26C>T (n.877-26C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787676G=CA2326526203COMPc.976-26C= (n.976-26C=)
c.817-26C= (n.817-26C=)
c.877-26C= (n.877-26C=)
19g.18787676G>TCA2583622641COMPc.976-26C>A (n.976-26C>A)
c.817-26C>A (n.817-26C>A)
c.877-26C>A (n.877-26C>A)
 gnomAD v4
19g.18787677A=CA2326526205COMPc.976-27T= (n.976-27T=)
c.817-27T= (n.817-27T=)
c.877-27T= (n.877-27T=)
19g.18787677A>TCA2583622643COMPc.976-27T>A (n.976-27T>A)
c.817-27T>A (n.817-27T>A)
c.877-27T>A (n.877-27T>A)
 gnomAD v4
19g.18787679_18787692delCA2583622642COMPc.976-40_976-27del (n.976-40_976-27del)
c.817-40_817-27del (n.817-40_817-27del)
c.877-40_877-27del (n.877-40_877-27del)
 gnomAD v4
19g.18787678G=CA2326526208COMPc.976-28C= (n.976-28C=)
c.817-28C= (n.817-28C=)
c.877-28C= (n.877-28C=)
19g.18787678_18787680dupCA306256760COMPc.976-30_976-28dup (n.976-30_976-28dup)
c.817-30_817-28dup (n.817-30_817-28dup)
c.877-30_877-28dup (n.877-30_877-28dup)
 dbSNP gnomAD v3 gnomAD v4
19g.18787679A=CA2326526211COMPc.976-29T= (n.976-29T=)
c.817-29T= (n.817-29T=)
c.877-29T= (n.877-29T=)
19g.18787679A>GCA632375738COMPc.976-29T>C (n.976-29T>C)
c.817-29T>C (n.817-29T>C)
c.877-29T>C (n.877-29T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18787679dupCA9316563COMPc.976-29dup (n.976-29dup)
c.817-29dup (n.817-29dup)
c.877-29dup (n.877-29dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787681_18787690delinsCAGGTCGAGACA2326526213COMPc.976-40_976-31delinsTCTCGACCTG (n.976-40_976-31delinsTCTCGACCTG)
c.817-40_817-31delinsTCTCGACCTG (n.817-40_817-31delinsTCTCGACCTG)
c.877-40_877-31delinsTCTCGACCTG (n.877-40_877-31delinsTCTCGACCTG)
19g.18787682A=CA2326526216COMPc.976-32T= (n.976-32T=)
c.817-32T= (n.817-32T=)
c.877-32T= (n.877-32T=)
19g.18787682A>CCA783973268COMPc.976-32T>G (n.976-32T>G)
c.817-32T>G (n.817-32T>G)
c.877-32T>G (n.877-32T>G)
 dbSNP
19g.18787682A>GCA2583622644COMPc.976-32T>C (n.976-32T>C)
c.817-32T>C (n.817-32T>C)
c.877-32T>C (n.877-32T>C)
 gnomAD v4
19g.18787685_18787693delCA994237342COMPc.976-40_976-32del (n.976-40_976-32del)
c.817-40_817-32del (n.817-40_817-32del)
c.877-40_877-32del (n.877-40_877-32del)
 dbSNP gnomAD v3 gnomAD v4
19g.18787683G>ACA2583622645COMPc.976-33C>T (n.976-33C>T)
c.817-33C>T (n.817-33C>T)
c.877-33C>T (n.877-33C>T)
 gnomAD v4
19g.18787683G>TCA2583622646COMPc.976-33C>A (n.976-33C>A)
c.817-33C>A (n.817-33C>A)
c.877-33C>A (n.877-33C>A)
 gnomAD v4
19g.18787684G>ACA2583622647COMPc.976-34C>T (n.976-34C>T)
c.817-34C>T (n.817-34C>T)
c.877-34C>T (n.877-34C>T)
 gnomAD v4
19g.18787684G>CCA2583622648COMPc.976-34C>G (n.976-34C>G)
c.817-34C>G (n.817-34C>G)
c.877-34C>G (n.877-34C>G)
 gnomAD v4
19g.18787685T>GCA632375739COMPc.976-35A>C (n.976-35A>C)
c.817-35A>C (n.817-35A>C)
c.877-35A>C (n.877-35A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18787685T=CA2326526219COMPc.976-35A= (n.976-35A=)
c.817-35A= (n.817-35A=)
c.877-35A= (n.877-35A=)
19g.18787686C>ACA2583622649COMPc.976-36G>T (n.976-36G>T)
c.817-36G>T (n.817-36G>T)
c.877-36G>T (n.877-36G>T)
 gnomAD v4
19g.18787687G>TCA2583622650COMPc.976-37C>A (n.976-37C>A)
c.817-37C>A (n.817-37C>A)
c.877-37C>A (n.877-37C>A)
 gnomAD v4
19g.18787689G>TCA2583622651COMPc.976-39C>A (n.976-39C>A)
c.817-39C>A (n.817-39C>A)
c.877-39C>A (n.877-39C>A)
 gnomAD v4
19g.18787690A=CA2326526222COMPc.976-40T= (n.976-40T=)
c.817-40T= (n.817-40T=)
c.877-40T= (n.877-40T=)
19g.18787690A>TCA994237348COMPc.976-40T>A (n.976-40T>A)
c.817-40T>A (n.817-40T>A)
c.877-40T>A (n.877-40T>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18787691A=CA2326526226COMPc.976-41T= (n.976-41T=)
c.817-41T= (n.817-41T=)
c.877-41T= (n.877-41T=)
19g.18787691A>CCA2326526227COMPc.976-41T>G (n.976-41T>G)
c.817-41T>G (n.817-41T>G)
c.877-41T>G (n.877-41T>G)
 dbSNP
19g.18787691_18787692delinsAGCA2326526225COMPc.976-42_976-41delinsCT (n.976-42_976-41delinsCT)
c.817-42_817-41delinsCT (n.817-42_817-41delinsCT)
c.877-42_877-41delinsCT (n.877-42_877-41delinsCT)
19g.18787693delCA632375740COMPc.976-42del (n.976-42del)
c.817-42del (n.817-42del)
c.877-42del (n.877-42del)
 dbSNP gnomAD v2 gnomAD v4
19g.18787693G>ACA306256789COMPc.976-43C>T (n.976-43C>T)
c.817-43C>T (n.817-43C>T)
c.877-43C>T (n.877-43C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.18787693G=CA2326526229COMPc.976-43C= (n.976-43C=)
c.817-43C= (n.817-43C=)
c.877-43C= (n.877-43C=)
19g.18787693G>TCA2583622652COMPc.976-43C>A (n.976-43C>A)
c.817-43C>A (n.817-43C>A)
c.877-43C>A (n.877-43C>A)
 gnomAD v4
19g.18787694C>ACA2583622653COMPc.976-44G>T (n.976-44G>T)
c.817-44G>T (n.817-44G>T)
c.877-44G>T (n.877-44G>T)
 gnomAD v4
19g.18787697delCA2583622654COMPc.976-45del (n.976-45del)
c.817-45del (n.817-45del)
c.877-45del (n.877-45del)
 gnomAD v4
19g.18787698G>ACA632375741COMPc.976-48C>T (n.976-48C>T)
c.817-48C>T (n.817-48C>T)
c.877-48C>T (n.877-48C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.18787698G>CCA2583622655COMPc.976-48C>G (n.976-48C>G)
c.817-48C>G (n.817-48C>G)
c.877-48C>G (n.877-48C>G)
 gnomAD v4
19g.18787698G=CA2326526232COMPc.976-48C= (n.976-48C=)
c.817-48C= (n.817-48C=)
c.877-48C= (n.877-48C=)
19g.18787698G>TCA2583622656COMPc.976-48C>A (n.976-48C>A)
c.817-48C>A (n.817-48C>A)
c.877-48C>A (n.877-48C>A)
 gnomAD v4
19g.18787699G>TCA2583622657COMPc.976-49C>A (n.976-49C>A)
c.817-49C>A (n.817-49C>A)
c.877-49C>A (n.877-49C>A)
 gnomAD v4
19g.18787701C>ACA2583622658COMPc.976-51G>T (n.976-51G>T)
c.817-51G>T (n.817-51G>T)
c.877-51G>T (n.877-51G>T)
 gnomAD v4
19g.18787703C>ACA2583622659COMPc.976-53G>T (n.976-53G>T)
c.817-53G>T (n.817-53G>T)
c.877-53G>T (n.877-53G>T)
 gnomAD v4
19g.18787704A>GCA2541771513COMPc.976-54T>C (n.976-54T>C)
c.817-54T>C (n.817-54T>C)
c.877-54T>C (n.877-54T>C)
 dbSNP gnomAD v3 gnomAD v4
19g.18787705C>ACA2583622660COMPc.976-55G>T (n.976-55G>T)
c.817-55G>T (n.817-55G>T)
c.877-55G>T (n.877-55G>T)
 gnomAD v4
19g.18787705C>GCA2583622661COMPc.976-55G>C (n.976-55G>C)
c.817-55G>C (n.817-55G>C)
c.877-55G>C (n.877-55G>C)
 gnomAD v4
19g.18787707C>ACA2583622662COMPc.976-57G>T (n.976-57G>T)
c.817-57G>T (n.817-57G>T)
c.877-57G>T (n.877-57G>T)
 gnomAD v4
19g.18787707C>TCA2583622663COMPc.976-57G>A (n.976-57G>A)
c.817-57G>A (n.817-57G>A)
c.877-57G>A (n.877-57G>A)
 gnomAD v4
19g.18787708C=CA2326526234COMPc.976-58G= (n.976-58G=)
c.817-58G= (n.817-58G=)
c.877-58G= (n.877-58G=)
19g.18787708C>TCA306256790COMPc.976-58G>A (n.976-58G>A)
c.817-58G>A (n.817-58G>A)
c.877-58G>A (n.877-58G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18787709T>CCA2583622664COMPc.976-59A>G (n.976-59A>G)
c.817-59A>G (n.817-59A>G)
c.877-59A>G (n.877-59A>G)
 gnomAD v4

Number of alleles fetched