Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.48966222T>CCA309376295FTLc.250-59T>C (n.250-59T>C)
c.760-59T>C (n.760-59T>C)
 dbSNP gnomAD v4
19g.48966222T>GCA309376314FTLc.250-59T>G (n.250-59T>G)
c.760-59T>G (n.760-59T>G)
 dbSNP gnomAD v4
19g.48966222T=CA2340161689FTLc.250-59T= (n.250-59T=)
c.760-59T= (n.760-59T=)
19g.48966223A>GCA2586288362FTLc.250-58A>G (n.250-58A>G)
c.760-58A>G (n.760-58A>G)
 gnomAD v4
19g.48966224G>ACA2586288363FTLc.250-57G>A (n.250-57G>A)
c.760-57G>A (n.760-57G>A)
 gnomAD v4
19g.48966225G>ACA2586288365FTLc.250-56G>A (n.250-56G>A)
c.760-56G>A (n.760-56G>A)
 gnomAD v4
19g.48966225G>CCA2340161691FTLc.250-56G>C (n.250-56G>C)
c.760-56G>C (n.760-56G>C)
 dbSNP
19g.48966225G=CA2340161690FTLc.250-56G= (n.250-56G=)
c.760-56G= (n.760-56G=)
19g.48966225G>TCA2586288364FTLc.250-56G>T (n.250-56G>T)
c.760-56G>T (n.760-56G>T)
 dbSNP gnomAD v4
19g.48966228T>CCA2586288366FTLc.250-53T>C (n.250-53T>C)
c.760-53T>C (n.760-53T>C)
 gnomAD v4
19g.48966230G>ACA633607488FTLc.250-51G>A (n.250-51G>A)
c.760-51G>A (n.760-51G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.48966230G>CCA2576844653FTLc.250-51G>C (n.250-51G>C)
c.760-51G>C (n.760-51G>C)
19g.48966230G=CA2340161692FTLc.250-51G= (n.250-51G=)
c.760-51G= (n.760-51G=)
19g.48966233C>ACA2586288367FTLc.250-48C>A (n.250-48C>A)
c.760-48C>A (n.760-48C>A)
 gnomAD v4
19g.48966233C=CA2340161693FTLc.250-48C= (n.250-48C=)
c.760-48C= (n.760-48C=)
19g.48966233C>TCA633607489FTLc.250-48C>T (n.250-48C>T)
c.760-48C>T (n.760-48C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.48966234T>CCA633607490FTLc.250-47T>C (n.250-47T>C)
c.760-47T>C (n.760-47T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.48966234T=CA2340161694FTLc.250-47T= (n.250-47T=)
c.760-47T= (n.760-47T=)
19g.48966235A>GCA2576844654FTLc.250-46A>G (n.250-46A>G)
c.760-46A>G (n.760-46A>G)
 gnomAD v4
19g.48966236T>CCA9562511FTLc.250-45T>C (n.250-45T>C)
c.760-45T>C (n.760-45T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.48966236T=CA2340161695FTLc.250-45T= (n.250-45T=)
c.760-45T= (n.760-45T=)
19g.48966238T>CCA9562512FTLc.250-43T>C (n.250-43T>C)
c.760-43T>C (n.760-43T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.48966238T=CA2340161696FTLc.250-43T= (n.250-43T=)
c.760-43T= (n.760-43T=)
19g.48966240C=CA2340161697FTLc.250-41C= (n.250-41C=)
c.760-41C= (n.760-41C=)
19g.48966240C>GCA9562513FTLc.250-41C>G (n.250-41C>G)
c.760-41C>G (n.760-41C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.48966240C>TCA2576844655FTLc.250-41C>T (n.250-41C>T)
c.760-41C>T (n.760-41C>T)
19g.48966240_48966246delinsCCGAGTGCA2340161698FTLc.250-41_250-35delinsCCGAGTG (n.250-41_250-35delinsCCGAGTG)
c.760-41_760-35delinsCCGAGTG (n.760-41_760-35delinsCCGAGTG)
19g.48966241C>ACA2586288368FTLc.250-40C>A (n.250-40C>A)
c.760-40C>A (n.760-40C>A)
 gnomAD v4
19g.48966241C=CA2340161699FTLc.250-40C= (n.250-40C=)
c.760-40C= (n.760-40C=)
19g.48966241C>TCA9562514FTLc.250-40C>T (n.250-40C>T)
c.760-40C>T (n.760-40C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.48966241_48966246delCA633607491FTLc.250-40_250-35del (n.250-40_250-35del)
c.760-40_760-35del (n.760-40_760-35del)
 dbSNP gnomAD v2 gnomAD v4
19g.48966242G>ACA996658056FTLc.250-39G>A (n.250-39G>A)
c.760-39G>A (n.760-39G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.48966242G>CCA2586288369FTLc.250-39G>C (n.250-39G>C)
c.760-39G>C (n.760-39G>C)
 gnomAD v4
19g.48966242G=CA2340161700FTLc.250-39G= (n.250-39G=)
c.760-39G= (n.760-39G=)
19g.48966242G>TCA9562515FTLc.250-39G>T (n.250-39G>T)
c.760-39G>T (n.760-39G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.48966243A>CCA2586288370FTLc.250-38A>C (n.250-38A>C)
c.760-38A>C (n.760-38A>C)
 gnomAD v4
19g.48966243A>TCA2576844656FTLc.250-38A>T (n.250-38A>T)
c.760-38A>T (n.760-38A>T)
 gnomAD v4
19g.48966244G>ACA2586288371FTLc.250-37G>A (n.250-37G>A)
c.760-37G>A (n.760-37G>A)
 gnomAD v4
19g.48966244G>CCA2586288372FTLc.250-37G>C (n.250-37G>C)
c.760-37G>C (n.760-37G>C)
 gnomAD v4
19g.48966248_48966251delCA2576844657FTLc.250-33_250-30del (n.250-33_250-30del)
c.760-33_760-30del (n.760-33_760-30del)
19g.48966245dupCA2586288373FTLc.250-36dup (n.250-36dup)
c.760-36dup (n.760-36dup)
 gnomAD v4
19g.48966246G>ACA2586288374FTLc.250-35G>A (n.250-35G>A)
c.760-35G>A (n.760-35G>A)
 gnomAD v4
19g.48966249T>CCA9562516FTLc.250-32T>C (n.250-32T>C)
c.760-32T>C (n.760-32T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.48966249T=CA2340161701FTLc.250-32T= (n.250-32T=)
c.760-32T= (n.760-32T=)
19g.48966250G>ACA309376379FTLc.250-31G>A (n.250-31G>A)
c.760-31G>A (n.760-31G>A)
 dbSNP gnomAD v4
19g.48966250G=CA2340161702FTLc.250-31G= (n.250-31G=)
c.760-31G= (n.760-31G=)
19g.48966253T>CCA633607492FTLc.250-28T>C (n.250-28T>C)
c.760-28T>C (n.760-28T>C)
 dbSNP gnomAD v2 gnomAD v4
19g.48966253T=CA2340161703FTLc.250-28T= (n.250-28T=)
c.760-28T= (n.760-28T=)
19g.48966255C>ACA2586288375FTLc.250-26C>A (n.250-26C>A)
c.760-26C>A (n.760-26C>A)
 gnomAD v4
19g.48966256T>CCA2586288376FTLc.250-25T>C (n.250-25T>C)
c.760-25T>C (n.760-25T>C)
 gnomAD v4
19g.48966257G>ACA2735959177FTLc.250-24G>A (n.250-24G>A)
c.760-24G>A (n.760-24G>A)
 dbSNP
19g.48966260C=CA2340161704FTLc.250-21C= (n.250-21C=)
c.760-21C= (n.760-21C=)
19g.48966260C>GCA633607493FTLc.250-21C>G (n.250-21C>G)
c.760-21C>G (n.760-21C>G)
 dbSNP gnomAD v2
19g.48966260C>TCA2576844658FTLc.250-21C>T (n.250-21C>T)
c.760-21C>T (n.760-21C>T)
 gnomAD v4
19g.48966265delCA2586288377FTLc.250-16del (n.250-16del)
c.760-16del (n.760-16del)
 gnomAD v4
19g.48966265T>CCA2340161706FTLc.250-16T>C (n.250-16T>C)
c.760-16T>C (n.760-16T>C)
 dbSNP gnomAD v4
19g.48966265T=CA2340161705FTLc.250-16T= (n.250-16T=)
c.760-16T= (n.760-16T=)
19g.48966266C=CA2340161707FTLc.250-15C= (n.250-15C=)
c.760-15C= (n.760-15C=)
19g.48966266C>TCA9562517FTLc.250-15C>T (n.250-15C>T)
c.760-15C>T (n.760-15C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.48966268C=CA2340161708FTLc.250-13C= (n.250-13C=)
c.760-13C= (n.760-13C=)
19g.48966268C>GCA633607494FTLc.250-13C>G (n.250-13C>G)
c.760-13C>G (n.760-13C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.48966269C=CA2340161709FTLc.250-12C= (n.250-12C=)
c.760-12C= (n.760-12C=)
19g.48966269C>TCA9562518FTLc.250-12C>T (n.250-12C>T)
c.760-12C>T (n.760-12C>T)
 dbSNP ExAC gnomAD v3 gnomAD v4
19g.48966270C=CA2340161710FTLc.250-11C= (n.250-11C=)
c.760-11C= (n.760-11C=)
19g.48966270C>TCA309376399FTLc.250-11C>T (n.250-11C>T)
c.760-11C>T (n.760-11C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.48966273C>TCA2586288378FTLc.250-8C>T (n.250-8C>T)
c.760-8C>T (n.760-8C>T)
 gnomAD v4
19g.48966274T>CCA883053023FTLc.250-7T>C (n.250-7T>C)
c.760-7T>C (n.760-7T>C)
 dbSNP gnomAD v3 gnomAD v4
19g.48966274T=CA2340161711FTLc.250-7T= (n.250-7T=)
c.760-7T= (n.760-7T=)
19g.48966278_48966279dupCA2586288379FTLc.250-3_250-2dup (n.250-3_250-2dup)
c.760-3_760-2dup (n.760-3_760-2dup)
 gnomAD v4
19g.48966275A=CA2340161712FTLc.250-6A= (n.250-6A=)
c.760-6A= (n.760-6A=)
19g.48966275A>GCA9562519FTLc.250-6A>G (n.250-6A>G)
c.760-6A>G (n.760-6A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.48966276T>CCA633607495FTLc.250-5T>C (n.250-5T>C)
c.760-5T>C (n.760-5T>C)
 dbSNP gnomAD v2 gnomAD v4
19g.48966276T=CA2340161713FTLc.250-5T= (n.250-5T=)
c.760-5T= (n.760-5T=)
19g.48966277A=CA2340161714FTLc.250-4A= (n.250-4A=)
c.760-4A= (n.760-4A=)
19g.48966277A>CCA309376407FTLc.250-4A>C (n.250-4A>C)
c.760-4A>C (n.760-4A>C)
 dbSNP
19g.48966277A>GCA9562520FTLc.250-4A>G (n.250-4A>G)
c.760-4A>G (n.760-4A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.48966278T>ACA309376410FTLc.250-3T>A (n.250-3T>A)
c.760-3T>A (n.760-3T>A)
 dbSNP
19g.48966278T=CA2340161715FTLc.250-3T= (n.250-3T=)
c.760-3T= (n.760-3T=)
19g.48966279A=CA2340161716FTLc.250-2A= (n.250-2A=)
c.760-2A= (n.760-2A=)
19g.48966279A>CCA406756603FTLc.250-2A>C (n.250-2A>C)
c.760-2A>C (n.760-2A>C)
19g.48966279A>GCA9562521FTLc.250-2A>G (n.250-2A>G)
c.760-2A>G (n.760-2A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.48966279A>TCA406756606FTLc.250-2A>T (n.250-2A>T)
c.760-2A>T (n.760-2A>T)
19g.48966280G>ACA406756607FTLc.250-1G>A (n.250-1G>A)
c.760-1G>A (n.760-1G>A)
 gnomAD v4
19g.48966280G>CCA309376415FTLc.250-1G>C (n.250-1G>C)
c.760-1G>C (n.760-1G>C)
 dbSNP
19g.48966280G=CA2340161717FTLc.250-1G= (n.250-1G=)
c.760-1G= (n.760-1G=)
19g.48966280G>TCA406756608FTLc.250-1G>T (n.250-1G>T)
c.760-1G>T (n.760-1G>T)
19g.48966281A>CCA406756609FTLc.250A>C (p.Lys84Gln)
c.760A>C (p.Lys254Gln)
 gnomAD v4
19g.48966281A>GCA406756611FTLc.250A>G (p.Lys84Glu)
c.760A>G (p.Lys254Glu)
19g.48966281A>TCA406756613FTLc.250A>T (p.Lys84Ter)
c.760A>T (p.Lys254Ter)
19g.48966282A=CA2340161718FTLc.251A= (p.Lys84=)
c.761A= (p.Lys254=)
19g.48966282A>CCA9562522FTLc.251A>C (p.Lys84Thr)
c.761A>C (p.Lys254Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.48966282A>GCA9562523FTLc.251A>G (p.Lys84Arg)
c.761A>G (p.Lys254Arg)
 dbSNP ExAC gnomAD v2
19g.48966282A>TCA406756616FTLc.251A>T (p.Lys84Met)
c.761A>T (p.Lys254Met)
19g.48966283G>ACA508077972FTLc.252G>A (p.Lys84=)
c.762G>A (p.Lys254=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.48966283G>CCA406756618FTLc.252G>C (p.Lys84Asn)
c.762G>C (p.Lys254Asn)
19g.48966283G=CA2340161719FTLc.252G= (p.Lys84=)
c.762G= (p.Lys254=)
19g.48966283G>TCA406756619FTLc.252G>T (p.Lys84Asn)
c.762G>T (p.Lys254Asn)
19g.48966284C>ACA406756620FTLc.253C>A (p.Pro85Thr)
c.763C>A (p.Pro255Thr)
19g.48966284C=CA2340161720FTLc.253C= (p.Pro85=)
c.763C= (p.Pro255=)
19g.48966284C>GCA309376416FTLc.253C>G (p.Pro85Ala)
c.763C>G (p.Pro255Ala)
 dbSNP gnomAD v3 gnomAD v4
19g.48966284C>TCA9562524FTLc.253C>T (p.Pro85Ser)
c.763C>T (p.Pro255Ser)
 ClinVar dbSNP ExAC gnomAD v4
19g.48966285delCA2586288380FTLc.254del (p.Pro85GlnfsTer13)
c.764del (p.Pro255GlnfsTer13)
 gnomAD v4
19g.48966285C>ACA406756621FTLc.254C>A (p.Pro85Gln)
c.764C>A (p.Pro255Gln)
19g.48966285C=CA2340161721FTLc.254C= (p.Pro85=)
c.764C= (p.Pro255=)
19g.48966285C>GCA406756622FTLc.254C>G (p.Pro85Arg)
c.764C>G (p.Pro255Arg)
 gnomAD v3 gnomAD v4
19g.48966285C>TCA9562525FTLc.254C>T (p.Pro85Leu)
c.764C>T (p.Pro255Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.48966286A>CCA508077976FTLc.255A>C (p.Pro85=)
c.765A>C (p.Pro255=)
19g.48966286A>GCA508077977FTLc.255A>G (p.Pro85=)
c.765A>G (p.Pro255=)
19g.48966286A>TCA508077979FTLc.255A>T (p.Pro85=)
c.765A>T (p.Pro255=)
19g.48966287G>ACA406756624FTLc.256G>A (p.Ala86Thr)
c.766G>A (p.Ala256Thr)
19g.48966287G>CCA9562526FTLc.256G>C (p.Ala86Pro)
c.766G>C (p.Ala256Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.48966287G=CA2340161722FTLc.256G= (p.Ala86=)
c.766G= (p.Ala256=)
19g.48966287G>TCA406756626FTLc.256G>T (p.Ala86Ser)
c.766G>T (p.Ala256Ser)
19g.48966288C>ACA406756627FTLc.257C>A (p.Ala86Asp)
c.767C>A (p.Ala256Asp)
19g.48966288C>GCA406756629FTLc.257C>G (p.Ala86Gly)
c.767C>G (p.Ala256Gly)
19g.48966288C>TCA406756630FTLc.257C>T (p.Ala86Val)
c.767C>T (p.Ala256Val)
19g.48966289T>ACA508077981FTLc.258T>A (p.Ala86=)
c.768T>A (p.Ala256=)
19g.48966289T>CCA508077983FTLc.258T>C (p.Ala86=)
c.768T>C (p.Ala256=)
19g.48966289T>GCA508077985FTLc.258T>G (p.Ala86=)
c.768T>G (p.Ala256=)
19g.48966290G>ACA406756632FTLc.259G>A (p.Glu87Lys)
c.769G>A (p.Glu257Lys)
19g.48966290G>CCA406756635FTLc.259G>C (p.Glu87Gln)
c.769G>C (p.Glu257Gln)
19g.48966290G=CA2340161723FTLc.259G= (p.Glu87=)
c.769G= (p.Glu257=)
19g.48966290G>TCA406756633FTLc.259G>T (p.Glu87Ter)
c.769G>T (p.Glu257Ter)
 dbSNP gnomAD v3 gnomAD v4
19g.48966291A>CCA406756637FTLc.260A>C (p.Glu87Ala)
c.770A>C (p.Glu257Ala)
19g.48966291A>GCA406756638FTLc.260A>G (p.Glu87Gly)
c.770A>G (p.Glu257Gly)
19g.48966291A>TCA406756640FTLc.260A>T (p.Glu87Val)
c.770A>T (p.Glu257Val)
19g.48966292A=CA2340161724FTLc.261A= (p.Glu87=)
c.771A= (p.Glu257=)
19g.48966292A>CCA9562527FTLc.261A>C (p.Glu87Asp)
c.771A>C (p.Glu257Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.48966292A>GCA508077987FTLc.261A>G (p.Glu87=)
c.771A>G (p.Glu257=)
19g.48966292A>TCA406756643FTLc.261A>T (p.Glu87Asp)
c.771A>T (p.Glu257Asp)
19g.48966293G>ACA406756645FTLc.262G>A (p.Asp88Asn)
c.772G>A (p.Asp258Asn)
19g.48966293G>CCA406756646FTLc.262G>C (p.Asp88His)
c.772G>C (p.Asp258His)
 gnomAD v4
19g.48966293G>TCA406756648FTLc.262G>T (p.Asp88Tyr)
c.772G>T (p.Asp258Tyr)
19g.48966294A>CCA406756650FTLc.263A>C (p.Asp88Ala)
c.773A>C (p.Asp258Ala)
19g.48966294A>GCA406756651FTLc.263A>G (p.Asp88Gly)
c.773A>G (p.Asp258Gly)
 ClinVar dbSNP
19g.48966294A>TCA406756652FTLc.263A>T (p.Asp88Val)
c.773A>T (p.Asp258Val)
19g.48966295T>ACA406756653FTLc.264T>A (p.Asp88Glu)
c.774T>A (p.Asp258Glu)
19g.48966295T>CCA508077991FTLc.264T>C (p.Asp88=)
c.774T>C (p.Asp258=)
 gnomAD v4
19g.48966295T>GCA406756655FTLc.264T>G (p.Asp88Glu)
c.774T>G (p.Asp258Glu)
19g.48966296G>ACA9562528FTLc.265G>A (p.Glu89Lys)
c.775G>A (p.Glu259Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.48966296G>CCA406756658FTLc.265G>C (p.Glu89Gln)
c.775G>C (p.Glu259Gln)
 COSMIC
19g.48966296G=CA2340161725FTLc.265G= (p.Glu89=)
c.775G= (p.Glu259=)
19g.48966296G>TCA406756656FTLc.265G>T (p.Glu89Ter)
c.775G>T (p.Glu259Ter)
19g.48966297A>CCA406756661FTLc.266A>C (p.Glu89Ala)
c.776A>C (p.Glu259Ala)
 gnomAD v4
19g.48966297A>GCA406756662FTLc.266A>G (p.Glu89Gly)
c.776A>G (p.Glu259Gly)
19g.48966297A>TCA406756663FTLc.266A>T (p.Glu89Val)
c.776A>T (p.Glu259Val)
19g.48966298G>ACA508077993FTLc.267G>A (p.Glu89=)
c.777G>A (p.Glu259=)
19g.48966298G>CCA406756664FTLc.267G>C (p.Glu89Asp)
c.777G>C (p.Glu259Asp)
19g.48966298G>TCA406756666FTLc.267G>T (p.Glu89Asp)
c.777G>T (p.Glu259Asp)
19g.48966299T>ACA406756668FTLc.268T>A (p.Trp90Arg)
c.778T>A (p.Trp260Arg)
19g.48966299T>CCA406756670FTLc.268T>C (p.Trp90Arg)
c.778T>C (p.Trp260Arg)
19g.48966299T>GCA406756671FTLc.268T>G (p.Trp90Gly)
c.778T>G (p.Trp260Gly)
19g.48966299_48966300delinsTGCA2340161726FTLc.268_269delinsTG (p.Trp90=)
c.778_779delinsTG (p.Trp260=)
19g.48966300G>ACA9562529FTLc.269G>A (p.Trp90Ter)
c.779G>A (p.Trp260Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.48966300G>CCA406756674FTLc.269G>C (p.Trp90Ser)
c.779G>C (p.Trp260Ser)
 gnomAD v4
19g.48966300G=CA2340161727FTLc.269G= (p.Trp90=)
c.779G= (p.Trp260=)
19g.48966300G>TCA406756675FTLc.269G>T (p.Trp90Leu)
c.779G>T (p.Trp260Leu)
19g.48966303delCA996658096FTLc.272del (p.Gly91ValfsTer7)
c.782del (p.Gly261ValfsTer7)
 dbSNP gnomAD v3 gnomAD v4
19g.48966301G>ACA406756677FTLc.270G>A (p.Trp90Ter)
c.780G>A (p.Trp260Ter)
19g.48966301G>CCA406756678FTLc.270G>C (p.Trp90Cys)
c.780G>C (p.Trp260Cys)
19g.48966301G>TCA406756680FTLc.270G>T (p.Trp90Cys)
c.780G>T (p.Trp260Cys)
19g.48966302G>ACA406756684FTLc.271G>A (p.Gly91Ser)
c.781G>A (p.Gly261Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.48966302G>CCA406756685FTLc.271G>C (p.Gly91Arg)
c.781G>C (p.Gly261Arg)
19g.48966302G=CA2340161728FTLc.271G= (p.Gly91=)
c.781G= (p.Gly261=)
19g.48966302G>TCA406756682FTLc.271G>T (p.Gly91Cys)
c.781G>T (p.Gly261Cys)
 ClinVar
19g.48966303G>ACA309376440FTLc.272G>A (p.Gly91Asp)
c.782G>A (p.Gly261Asp)
 dbSNP
19g.48966303G>CCA9562530FTLc.272G>C (p.Gly91Ala)
c.782G>C (p.Gly261Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.48966303G=CA2340161729FTLc.272G= (p.Gly91=)
c.782G= (p.Gly261=)
19g.48966303G>TCA406756688FTLc.272G>T (p.Gly91Val)
c.782G>T (p.Gly261Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.48966304T>ACA508078000FTLc.273T>A (p.Gly91=)
c.783T>A (p.Gly261=)
 dbSNP
19g.48966304T>CCA508078001FTLc.273T>C (p.Gly91=)
c.783T>C (p.Gly261=)
19g.48966304T>GCA508078002FTLc.273T>G (p.Gly91=)
c.783T>G (p.Gly261=)
19g.48966305_48966321delCA2586288381FTLc.274_290del (p.Lys92GlufsTer?)
c.784_800del (p.Lys262GlufsTer?)
 gnomAD v4
19g.48966305A>CCA406756689FTLc.274A>C (p.Lys92Gln)
c.784A>C (p.Lys262Gln)
19g.48966305A>GCA406756691FTLc.274A>G (p.Lys92Glu)
c.784A>G (p.Lys262Glu)
 gnomAD v4 COSMIC
19g.48966305A>TCA406756692FTLc.274A>T (p.Lys92Ter)
c.784A>T (p.Lys262Ter)
19g.48966306A>CCA406756693FTLc.275A>C (p.Lys92Thr)
c.785A>C (p.Lys262Thr)
19g.48966306A>GCA406756695FTLc.275A>G (p.Lys92Arg)
c.785A>G (p.Lys262Arg)
 gnomAD v4
19g.48966306A>TCA406756696FTLc.275A>T (p.Lys92Ile)
c.785A>T (p.Lys262Ile)
19g.48966307A>CCA406756698FTLc.276A>C (p.Lys92Asn)
c.786A>C (p.Lys262Asn)
19g.48966307A>GCA508078006FTLc.276A>G (p.Lys92=)
c.786A>G (p.Lys262=)
19g.48966307A>TCA406756700FTLc.276A>T (p.Lys92Asn)
c.786A>T (p.Lys262Asn)
19g.48966308A=CA2340161730FTLc.277A= (p.Thr93=)
c.787A= (p.Thr263=)
19g.48966308A>CCA309376451FTLc.277A>C (p.Thr93Pro)
c.787A>C (p.Thr263Pro)
 dbSNP
19g.48966308A>GCA9562531FTLc.277A>G (p.Thr93Ala)
c.787A>G (p.Thr263Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.48966308A>TCA406756702FTLc.277A>T (p.Thr93Ser)
c.787A>T (p.Thr263Ser)
19g.48966309C>ACA406756705FTLc.278C>A (p.Thr93Asn)
c.788C>A (p.Thr263Asn)
19g.48966309C>GCA406756706FTLc.278C>G (p.Thr93Ser)
c.788C>G (p.Thr263Ser)
19g.48966309C>TCA406756708FTLc.278C>T (p.Thr93Ile)
c.788C>T (p.Thr263Ile)
19g.48966310C>ACA508078008FTLc.279C>A (p.Thr93=)
c.789C>A (p.Thr263=)
19g.48966310C>GCA508078009FTLc.279C>G (p.Thr93=)
c.789C>G (p.Thr263=)
19g.48966310C>TCA508078010FTLc.279C>T (p.Thr93=)
c.789C>T (p.Thr263=)
19g.48966311C>ACA309376478FTLc.280C>A (p.Pro94Thr)
c.790C>A (p.Pro264Thr)
 dbSNP gnomAD v2 gnomAD v4
19g.48966311C=CA2340161731FTLc.280C= (p.Pro94=)
c.790C= (p.Pro264=)
19g.48966311C>GCA406756710FTLc.280C>G (p.Pro94Ala)
c.790C>G (p.Pro264Ala)
 gnomAD v4
19g.48966311C>TCA406756712FTLc.280C>T (p.Pro94Ser)
c.790C>T (p.Pro264Ser)
 gnomAD v4
19g.48966312C>ACA406756713FTLc.281C>A (p.Pro94Gln)
c.791C>A (p.Pro264Gln)
 dbSNP
19g.48966312C=CA2340161732FTLc.281C= (p.Pro94=)
c.791C= (p.Pro264=)
19g.48966312C>GCA406756715FTLc.281C>G (p.Pro94Arg)
c.791C>G (p.Pro264Arg)
19g.48966312C>TCA9562532FTLc.281C>T (p.Pro94Leu)
c.791C>T (p.Pro264Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.48966313A=CA2340161733FTLc.282A= (p.Pro94=)
c.792A= (p.Pro264=)
19g.48966313A>CCA508078014FTLc.282A>C (p.Pro94=)
c.792A>C (p.Pro264=)
19g.48966313A>GCA508078015FTLc.282A>G (p.Pro94=)
c.792A>G (p.Pro264=)
 dbSNP
19g.48966313A>TCA508078016FTLc.282A>T (p.Pro94=)
c.792A>T (p.Pro264=)
19g.48966314G>ACA406756718FTLc.283G>A (p.Asp95Asn)
c.793G>A (p.Asp265Asn)
 dbSNP gnomAD v2 gnomAD v4
19g.48966314G>CCA406756719FTLc.283G>C (p.Asp95His)
c.793G>C (p.Asp265His)
 dbSNP
19g.48966314G=CA2340161734FTLc.283G= (p.Asp95=)
c.793G= (p.Asp265=)
19g.48966314G>TCA406756721FTLc.283G>T (p.Asp95Tyr)
c.793G>T (p.Asp265Tyr)
 dbSNP
19g.48966315A>CCA406756727FTLc.284A>C (p.Asp95Ala)
c.794A>C (p.Asp265Ala)
19g.48966315A>GCA406756723FTLc.284A>G (p.Asp95Gly)
c.794A>G (p.Asp265Gly)
19g.48966315A>TCA406756725FTLc.284A>T (p.Asp95Val)
c.794A>T (p.Asp265Val)
19g.48966316C>ACA406756728FTLc.285C>A (p.Asp95Glu)
c.795C>A (p.Asp265Glu)
19g.48966316C=CA2340161735FTLc.285C= (p.Asp95=)
c.795C= (p.Asp265=)
19g.48966316C>GCA406756729FTLc.285C>G (p.Asp95Glu)
c.795C>G (p.Asp265Glu)
 dbSNP gnomAD v2 gnomAD v4
19g.48966316C>TCA9562533FTLc.285C>T (p.Asp95=)
c.795C>T (p.Asp265=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.48966317G>ACA281022FTLc.286G>A (p.Ala96Thr)
c.796G>A (p.Ala266Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.48966317G>CCA406756733FTLc.286G>C (p.Ala96Pro)
c.796G>C (p.Ala266Pro)
19g.48966317G=CA2340161736FTLc.286G= (p.Ala96=)
c.796G= (p.Ala266=)
19g.48966317G>TCA406756731FTLc.286G>T (p.Ala96Ser)
c.796G>T (p.Ala266Ser)
 gnomAD v4
19g.48966318C>ACA406756734FTLc.287C>A (p.Ala96Asp)
c.797C>A (p.Ala266Asp)
19g.48966318C>GCA406756738FTLc.287C>G (p.Ala96Gly)
c.797C>G (p.Ala266Gly)
 gnomAD v4
19g.48966318C>TCA406756736FTLc.287C>T (p.Ala96Val)
c.797C>T (p.Ala266Val)
19g.48966319C>ACA508078020FTLc.288C>A (p.Ala96=)
c.798C>A (p.Ala266=)
19g.48966319C=CA2340161737FTLc.288C= (p.Ala96=)
c.798C= (p.Ala266=)
19g.48966319C>GCA508078021FTLc.288C>G (p.Ala96=)
c.798C>G (p.Ala266=)
19g.48966319C>TCA9562534FTLc.288C>T (p.Ala96=)
c.798C>T (p.Ala266=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.48966320A=CA2340161738FTLc.289A= (p.Met97=)
c.799A= (p.Met267=)
19g.48966320A>CCA406756741FTLc.289A>C (p.Met97Leu)
c.799A>C (p.Met267Leu)
19g.48966320A>GCA406756743FTLc.289A>G (p.Met97Val)
c.799A>G (p.Met267Val)
 dbSNP gnomAD v4
19g.48966320A>TCA406756744FTLc.289A>T (p.Met97Leu)
c.799A>T (p.Met267Leu)
19g.48966321T>ACA406756746FTLc.290T>A (p.Met97Lys)
c.800T>A (p.Met267Lys)
19g.48966321T>CCA406756748FTLc.290T>C (p.Met97Thr)
c.800T>C (p.Met267Thr)
 ClinVar gnomAD v4 COSMIC
19g.48966321T>GCA406756749FTLc.290T>G (p.Met97Arg)
c.800T>G (p.Met267Arg)
19g.48966322G>ACA406756750FTLc.291G>A (p.Met97Ile)
c.801G>A (p.Met267Ile)
 dbSNP gnomAD v4
19g.48966322G>CCA406756751FTLc.291G>C (p.Met97Ile)
c.801G>C (p.Met267Ile)
19g.48966322G=CA2340161739FTLc.291G= (p.Met97=)
c.801G= (p.Met267=)
19g.48966322G>TCA406756752FTLc.291G>T (p.Met97Ile)
c.801G>T (p.Met267Ile)

Number of alleles fetched