Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.52906135G>ACA402513655DCCc.504G>A (p.Met168Ile)
c.305G>A
c.435G>A (p.Met145Ile)
c.425G>A
n.417G>A
c.425G>A (n.425G>A)
18g.52906135G>CCA402513656DCCc.504G>C (p.Met168Ile)
c.305G>C
c.435G>C (p.Met145Ile)
c.425G>C
n.417G>C
c.425G>C (n.425G>C)
18g.52906135G>TCA402513657DCCc.504G>T (p.Met168Ile)
c.305G>T
c.435G>T (p.Met145Ile)
c.425G>T
n.417G>T
c.425G>T (n.425G>T)
18g.52906136C>ACA402513658DCCc.505C>A (p.Pro169Thr)
c.306C>A
c.436C>A (p.Pro146Thr)
c.426C>A
n.418C>A
c.426C>A (n.426C>A)
dbSNP gnomAD v3 gnomAD v4
18g.52906136C=CA2303875037DCCc.505C= (p.Pro169=)
c.306C=
c.436C= (p.Pro146=)
c.426C=
n.418C=
c.426C= (n.426C=)
18g.52906136C>GCA402513659DCCc.505C>G (p.Pro169Ala)
c.306C>G
c.436C>G (p.Pro146Ala)
c.426C>G
n.418C>G
c.426C>G (n.426C>G)
18g.52906136C>TCA402513660DCCc.505C>T (p.Pro169Ser)
c.306C>T
c.436C>T (p.Pro146Ser)
c.426C>T
n.418C>T
c.426C>T (n.426C>T)
gnomAD v4
18g.52906137C>ACA402513661DCCc.506C>A (p.Pro169Gln)
c.307C>A
c.437C>A (p.Pro146Gln)
c.427C>A
n.419C>A
c.427C>A (n.427C>A)
18g.52906137C>GCA402513662DCCc.506C>G (p.Pro169Arg)
c.307C>G
c.437C>G (p.Pro146Arg)
c.427C>G
n.419C>G
c.427C>G (n.427C>G)
18g.52906137C>TCA402513663DCCc.506C>T (p.Pro169Leu)
c.307C>T
c.437C>T (p.Pro146Leu)
c.427C>T
n.419C>T
c.427C>T (n.427C>T)
18g.52906138A=CA2303875038DCCc.507A= (p.Pro169=)
c.308A=
c.438A= (p.Pro146=)
c.428A=
n.420A=
c.428A= (n.428A=)
18g.52906138A>CCA503999344DCCc.507A>C (p.Pro169=)
c.308A>C
c.438A>C (p.Pro146=)
c.428A>C
n.420A>C
c.428A>C (n.428A>C)
dbSNP gnomAD v2 gnomAD v4
18g.52906138A>GCA503999342DCCc.507A>G (p.Pro169=)
c.308A>G
c.438A>G (p.Pro146=)
c.428A>G
n.420A>G
c.428A>G (n.428A>G)
gnomAD v4
18g.52906138A>TCA503999343DCCc.507A>T (p.Pro169=)
c.308A>T
c.438A>T (p.Pro146=)
c.428A>T
n.420A>T
c.428A>T (n.428A>T)
18g.52906139A=CA2303875039DCCc.508A= (p.Thr170=)
c.309A=
c.439A= (p.Thr147=)
c.429A=
n.421A=
c.429A= (n.429A=)
18g.52906139A>CCA402513665DCCc.508A>C (p.Thr170Pro)
c.309A>C
c.439A>C (p.Thr147Pro)
c.429A>C
n.421A>C
c.429A>C (n.429A>C)
18g.52906139A>GCA402513666DCCc.508A>G (p.Thr170Ala)
c.309A>G
c.439A>G (p.Thr147Ala)
c.429A>G
n.421A>G
c.429A>G (n.429A>G)
dbSNP gnomAD v3 gnomAD v4
18g.52906139A>TCA402513664DCCc.508A>T (p.Thr170Ser)
c.309A>T
c.439A>T (p.Thr147Ser)
c.429A>T
n.421A>T
c.429A>T (n.429A>T)
18g.52906140C>ACA402513667DCCc.509C>A (p.Thr170Lys)
c.310C>A
c.440C>A (p.Thr147Lys)
c.430C>A
n.422C>A
c.430C>A (n.430C>A)
gnomAD v4
18g.52906140C=CA2303875040DCCc.509C= (p.Thr170=)
c.310C=
c.440C= (p.Thr147=)
c.430C=
n.422C=
c.430C= (n.430C=)
18g.52906140C>GCA402513668DCCc.509C>G (p.Thr170Arg)
c.310C>G
c.440C>G (p.Thr147Arg)
c.430C>G
n.422C>G
c.430C>G (n.430C>G)
18g.52906140C>TCA402513669DCCc.509C>T (p.Thr170Ile)
c.310C>T
c.440C>T (p.Thr147Ile)
c.430C>T
n.422C>T
c.430C>T (n.430C>T)
dbSNP gnomAD v3 gnomAD v4
18g.52906141A>CCA503999345DCCc.510A>C (p.Thr170=)
c.311A>C
c.441A>C (p.Thr147=)
c.431A>C
n.423A>C
c.431A>C (n.431A>C)
18g.52906141A>GCA503999346DCCc.510A>G (p.Thr170=)
c.311A>G
c.441A>G (p.Thr147=)
c.431A>G
n.423A>G
c.431A>G (n.431A>G)
18g.52906141A>TCA503999347DCCc.510A>T (p.Thr170=)
c.311A>T
c.441A>T (p.Thr147=)
c.431A>T
n.423A>T
c.431A>T (n.431A>T)
18g.52906142A=CA2303875041DCCc.511A= (p.Ile171=)
c.312A=
c.442A= (p.Ile148=)
c.432A=
n.424A=
c.432A= (n.432A=)
18g.52906142A>CCA402513670DCCc.511A>C (p.Ile171Leu)
c.312A>C
c.442A>C (p.Ile148Leu)
c.432A>C
n.424A>C
c.432A>C (n.432A>C)
18g.52906142A>GCA8966559DCCc.511A>G (p.Ile171Val)
c.312A>G
c.442A>G (p.Ile148Val)
c.432A>G
n.424A>G
c.432A>G (n.432A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906142A>TCA402513671DCCc.511A>T (p.Ile171Phe)
c.312A>T
c.442A>T (p.Ile148Phe)
c.432A>T
n.424A>T
c.432A>T (n.432A>T)
18g.52906143T>ACA402513672DCCc.512T>A (p.Ile171Asn)
c.313T>A
c.443T>A (p.Ile148Asn)
c.433T>A
n.425T>A
c.433T>A (n.433T>A)
18g.52906143T>CCA402513673DCCc.512T>C (p.Ile171Thr)
c.313T>C
c.443T>C (p.Ile148Thr)
c.433T>C
n.425T>C
c.433T>C (n.433T>C)
18g.52906143T>GCA402513674DCCc.512T>G (p.Ile171Ser)
c.313T>G
c.443T>G (p.Ile148Ser)
c.433T>G
n.425T>G
c.433T>G (n.433T>G)
18g.52906144C>ACA8966561DCCc.513C>A (p.Ile171=)
c.314C>A
c.444C>A (p.Ile148=)
c.434C>A
n.426C>A
c.434C>A (n.434C>A)
dbSNP ExAC gnomAD v4
18g.52906144C=CA2303875042DCCc.513C= (p.Ile171=)
c.314C=
c.444C= (p.Ile148=)
c.434C=
n.426C=
c.434C= (n.434C=)
18g.52906144C>GCA402513675DCCc.513C>G (p.Ile171Met)
c.314C>G
c.444C>G (p.Ile148Met)
c.434C>G
n.426C>G
c.434C>G (n.434C>G)
18g.52906144C>TCA8966560DCCc.513C>T (p.Ile171=)
c.314C>T
c.444C>T (p.Ile148=)
c.434C>T
n.426C>T
c.434C>T (n.434C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906145C>ACA402513678DCCc.514C>A (p.His172Asn)
c.315C>A
c.445C>A (p.His149Asn)
c.435C>A
n.427C>A
c.435C>A (n.435C>A)
18g.52906145C>GCA402513677DCCc.514C>G (p.His172Asp)
c.315C>G
c.445C>G (p.His149Asp)
c.435C>G
n.427C>G
c.435C>G (n.435C>G)
18g.52906145C>TCA402513676DCCc.514C>T (p.His172Tyr)
c.315C>T
c.445C>T (p.His149Tyr)
c.435C>T
n.427C>T
c.435C>T (n.435C>T)
18g.52906146A>CCA402513679DCCc.515A>C (p.His172Pro)
c.316A>C
c.446A>C (p.His149Pro)
c.436A>C
n.428A>C
c.436A>C (n.436A>C)
18g.52906146A>GCA402513680DCCc.515A>G (p.His172Arg)
c.316A>G
c.446A>G (p.His149Arg)
c.436A>G
n.428A>G
c.436A>G (n.436A>G)
gnomAD v4
18g.52906146A>TCA402513681DCCc.515A>T (p.His172Leu)
c.316A>T
c.446A>T (p.His149Leu)
c.436A>T
n.428A>T
c.436A>T (n.436A>T)
18g.52906147C>ACA402513682DCCc.516C>A (p.His172Gln)
c.317C>A
c.447C>A (p.His149Gln)
c.437C>A
n.429C>A
c.437C>A (n.437C>A)
18g.52906147C>GCA402513683DCCc.516C>G (p.His172Gln)
c.317C>G
c.447C>G (p.His149Gln)
c.437C>G
n.429C>G
c.437C>G (n.437C>G)
18g.52906147C>TCA503999348DCCc.516C>T (p.His172=)
c.317C>T
c.447C>T (p.His149=)
c.437C>T
n.429C>T
c.437C>T (n.437C>T)
18g.52906148T>ACA402513684DCCc.517T>A (p.Trp173Arg)
c.318T>A
c.448T>A (p.Trp150Arg)
c.438T>A
n.430T>A
c.438T>A (n.438T>A)
18g.52906148T>CCA402513685DCCc.517T>C (p.Trp173Arg)
c.318T>C
c.448T>C (p.Trp150Arg)
c.438T>C
n.430T>C
c.438T>C (n.438T>C)
18g.52906148T>GCA402513686DCCc.517T>G (p.Trp173Gly)
c.318T>G
c.448T>G (p.Trp150Gly)
c.438T>G
n.430T>G
c.438T>G (n.438T>G)
18g.52906149G>ACA402513687DCCc.518G>A (p.Trp173Ter)
c.319G>A
c.449G>A (p.Trp150Ter)
c.439G>A
n.431G>A
c.439G>A (n.439G>A)
18g.52906149G>CCA402513688DCCc.518G>C (p.Trp173Ser)
c.319G>C
c.449G>C (p.Trp150Ser)
c.439G>C
n.431G>C
c.439G>C (n.439G>C)
18g.52906149G>TCA402513689DCCc.518G>T (p.Trp173Leu)
c.319G>T
c.449G>T (p.Trp150Leu)
c.439G>T
n.431G>T
c.439G>T (n.439G>T)
18g.52906150G>ACA402513690DCCc.519G>A (p.Trp173Ter)
c.320G>A
c.450G>A (p.Trp150Ter)
c.440G>A
n.432G>A
c.440G>A (n.440G>A)
gnomAD v4
18g.52906150G>CCA402513691DCCc.519G>C (p.Trp173Cys)
c.320G>C
c.450G>C (p.Trp150Cys)
c.440G>C
n.432G>C
c.440G>C (n.440G>C)
18g.52906150G>TCA402513692DCCc.519G>T (p.Trp173Cys)
c.320G>T
c.450G>T (p.Trp150Cys)
c.440G>T
n.432G>T
c.440G>T (n.440G>T)
18g.52906151C>ACA402513695DCCc.520C>A (p.Gln174Lys)
c.321C>A
c.451C>A (p.Gln151Lys)
c.441C>A
n.433C>A
c.441C>A (n.441C>A)
18g.52906151C>GCA402513694DCCc.520C>G (p.Gln174Glu)
c.321C>G
c.451C>G (p.Gln151Glu)
c.441C>G
n.433C>G
c.441C>G (n.441C>G)
18g.52906151C>TCA402513693DCCc.520C>T (p.Gln174Ter)
c.321C>T
c.451C>T (p.Gln151Ter)
c.441C>T
n.433C>T
c.441C>T (n.441C>T)
18g.52906152A>CCA402513696DCCc.521A>C (p.Gln174Pro)
c.322A>C
c.452A>C (p.Gln151Pro)
c.442A>C
n.434A>C
c.442A>C (n.442A>C)
18g.52906152A>GCA402513697DCCc.521A>G (p.Gln174Arg)
c.322A>G
c.452A>G (p.Gln151Arg)
c.442A>G
n.434A>G
c.442A>G (n.442A>G)
18g.52906152A>TCA402513698DCCc.521A>T (p.Gln174Leu)
c.322A>T
c.452A>T (p.Gln151Leu)
c.442A>T
n.434A>T
c.442A>T (n.442A>T)
18g.52906153G>ACA503999349DCCc.522G>A (p.Gln174=)
c.323G>A
c.453G>A (p.Gln151=)
c.443G>A
n.435G>A
c.443G>A (n.443G>A)
18g.52906153G>CCA402513699DCCc.522G>C (p.Gln174His)
c.323G>C
c.453G>C (p.Gln151His)
c.443G>C
n.435G>C
c.443G>C (n.443G>C)
18g.52906153G>TCA402513700DCCc.522G>T (p.Gln174His)
c.323G>T
c.453G>T (p.Gln151His)
c.443G>T
n.435G>T
c.443G>T (n.443G>T)
18g.52906154A>CCA402513701DCCc.523A>C (p.Lys175Gln)
c.324A>C
c.454A>C (p.Lys152Gln)
c.444A>C
n.436A>C
c.444A>C (n.444A>C)
18g.52906154A>GCA402513702DCCc.523A>G (p.Lys175Glu)
c.324A>G
c.454A>G (p.Lys152Glu)
c.444A>G
n.436A>G
c.444A>G (n.444A>G)
18g.52906154A>TCA402513703DCCc.523A>T (p.Lys175Ter)
c.324A>T
c.454A>T (p.Lys152Ter)
c.444A>T
n.436A>T
c.444A>T (n.444A>T)
18g.52906155A>CCA402513704DCCc.524A>C (p.Lys175Thr)
c.325A>C
c.455A>C (p.Lys152Thr)
c.445A>C
n.437A>C
c.445A>C (n.445A>C)
18g.52906155A>GCA402513705DCCc.524A>G (p.Lys175Arg)
c.325A>G
c.455A>G (p.Lys152Arg)
c.445A>G
n.437A>G
c.445A>G (n.445A>G)
18g.52906155A>TCA402513706DCCc.524A>T (p.Lys175Met)
c.325A>T
c.455A>T (p.Lys152Met)
c.445A>T
n.437A>T
c.445A>T (n.445A>T)
18g.52906156G>ACA503999350DCCc.525G>A (p.Lys175=)
c.326G>A
c.456G>A (p.Lys152=)
c.446G>A
n.438G>A
c.446G>A (n.446G>A)
gnomAD v4
18g.52906156G>CCA402513707DCCc.525G>C (p.Lys175Asn)
c.326G>C
c.456G>C (p.Lys152Asn)
c.446G>C
n.438G>C
c.446G>C (n.446G>C)
18g.52906156G>TCA402513708DCCc.525G>T (p.Lys175Asn)
c.326G>T
c.456G>T (p.Lys152Asn)
c.446G>T
n.438G>T
c.446G>T (n.446G>T)
18g.52906157A=CA2303875043DCCc.526A= (p.Asn176=)
c.327A=
c.457A= (p.Asn153=)
c.447A=
n.439A=
c.447A= (n.447A=)
18g.52906157A>CCA402513710DCCc.526A>C (p.Asn176His)
c.327A>C
c.457A>C (p.Asn153His)
c.447A>C
n.439A>C
c.447A>C (n.447A>C)
18g.52906157A>GCA8966562DCCc.526A>G (p.Asn176Asp)
c.327A>G
c.457A>G (p.Asn153Asp)
c.447A>G
n.439A>G
c.447A>G (n.447A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906157A>TCA402513709DCCc.526A>T (p.Asn176Tyr)
c.327A>T
c.457A>T (p.Asn153Tyr)
c.447A>T
n.439A>T
c.447A>T (n.447A>T)
18g.52906158A=CA2303875044DCCc.527A= (p.Asn176=)
c.328A=
c.458A= (p.Asn153=)
c.448A=
n.440A=
c.448A= (n.448A=)
18g.52906158A>CCA402513711DCCc.527A>C (p.Asn176Thr)
c.328A>C
c.458A>C (p.Asn153Thr)
c.448A>C
n.440A>C
c.448A>C (n.448A>C)
18g.52906158A>GCA347146DCCc.527A>G (p.Asn176Ser)
c.328A>G
c.458A>G (p.Asn153Ser)
c.448A>G
n.440A>G
c.448A>G (n.448A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906158A>TCA402513712DCCc.527A>T (p.Asn176Ile)
c.328A>T
c.458A>T (p.Asn153Ile)
c.448A>T
n.440A>T
c.448A>T (n.448A>T)
18g.52906159C>ACA8966563DCCc.528C>A (p.Asn176Lys)
c.329C>A
c.459C>A (p.Asn153Lys)
c.449C>A
n.441C>A
c.449C>A (n.449C>A)
dbSNP ExAC gnomAD v2 COSMIC COSMIC
18g.52906159C=CA2303875045DCCc.528C= (p.Asn176=)
c.329C=
c.459C= (p.Asn153=)
c.449C=
n.441C=
c.449C= (n.449C=)
18g.52906159C>GCA402513713DCCc.528C>G (p.Asn176Lys)
c.329C>G
c.459C>G (p.Asn153Lys)
c.449C>G
n.441C>G
c.449C>G (n.449C>G)
18g.52906159C>TCA503999351DCCc.528C>T (p.Asn176=)
c.329C>T
c.459C>T (p.Asn153=)
c.449C>T
n.441C>T
c.449C>T (n.449C>T)
18g.52906160C>ACA402513714DCCc.529C>A (p.Gln177Lys)
c.330C>A
c.460C>A (p.Gln154Lys)
c.450C>A
n.442C>A
c.450C>A (n.450C>A)
dbSNP gnomAD v4
18g.52906160C=CA2303875046DCCc.529C= (p.Gln177=)
c.330C=
c.460C= (p.Gln154=)
c.450C=
n.442C=
c.450C= (n.450C=)
18g.52906160C>GCA402513716DCCc.529C>G (p.Gln177Glu)
c.330C>G
c.460C>G (p.Gln154Glu)
c.450C>G
n.442C>G
c.450C>G (n.450C>G)
18g.52906160C>TCA402513717DCCc.529C>T (p.Gln177Ter)
c.330C>T
c.460C>T (p.Gln154Ter)
c.450C>T
n.442C>T
c.450C>T (n.450C>T)
18g.52906163_52906165delCA2576506471DCCc.532_534del (p.Gln178del)
c.333_335del
c.463_465del (p.Gln155del)
c.453_455del
n.445_447del
c.453_455del (n.453_455del)
18g.52906161A>CCA402513718DCCc.530A>C (p.Gln177Pro)
c.331A>C
c.461A>C (p.Gln154Pro)
c.451A>C
n.443A>C
c.451A>C (n.451A>C)
18g.52906161A>GCA402513719DCCc.530A>G (p.Gln177Arg)
c.331A>G
c.461A>G (p.Gln154Arg)
c.451A>G
n.443A>G
c.451A>G (n.451A>G)
18g.52906161A>TCA402513720DCCc.530A>T (p.Gln177Leu)
c.331A>T
c.461A>T (p.Gln154Leu)
c.451A>T
n.443A>T
c.451A>T (n.451A>T)
18g.52906162A>CCA402513721DCCc.531A>C (p.Gln177His)
c.332A>C
c.462A>C (p.Gln154His)
c.452A>C
n.444A>C
c.452A>C (n.452A>C)
gnomAD v4
18g.52906162A>GCA503999352DCCc.531A>G (p.Gln177=)
c.332A>G
c.462A>G (p.Gln154=)
c.452A>G
n.444A>G
c.452A>G (n.452A>G)
18g.52906162A>TCA402513722DCCc.531A>T (p.Gln177His)
c.332A>T
c.462A>T (p.Gln154His)
c.452A>T
n.444A>T
c.452A>T (n.452A>T)
18g.52906163C>ACA402513724DCCc.532C>A (p.Gln178Lys)
c.333C>A
c.463C>A (p.Gln155Lys)
c.453C>A
n.445C>A
c.453C>A (n.453C>A)
dbSNP
18g.52906163C=CA2303875047DCCc.532C= (p.Gln178=)
c.333C=
c.463C= (p.Gln155=)
c.453C=
n.445C=
c.453C= (n.453C=)
18g.52906163C>GCA402513725DCCc.532C>G (p.Gln178Glu)
c.333C>G
c.463C>G (p.Gln155Glu)
c.453C>G
n.445C>G
c.453C>G (n.453C>G)
ClinVar
18g.52906163C>TCA402513723DCCc.532C>T (p.Gln178Ter)
c.333C>T
c.463C>T (p.Gln155Ter)
c.453C>T
n.445C>T
c.453C>T (n.453C>T)
18g.52906164A>CCA402513726DCCc.533A>C (p.Gln178Pro)
c.334A>C
c.464A>C (p.Gln155Pro)
c.454A>C
n.446A>C
c.454A>C (n.454A>C)
18g.52906164A>GCA402513727DCCc.533A>G (p.Gln178Arg)
c.334A>G
c.464A>G (p.Gln155Arg)
c.454A>G
n.446A>G
c.454A>G (n.454A>G)
gnomAD v4
18g.52906164A>TCA402513728DCCc.533A>T (p.Gln178Leu)
c.334A>T
c.464A>T (p.Gln155Leu)
c.454A>T
n.446A>T
c.454A>T (n.454A>T)
18g.52906165A>CCA402513729DCCc.534A>C (p.Gln178His)
c.335A>C
c.465A>C (p.Gln155His)
c.455A>C
n.447A>C
c.455A>C (n.455A>C)
18g.52906165A>GCA503999353DCCc.534A>G (p.Gln178=)
c.335A>G
c.465A>G (p.Gln155=)
c.455A>G
n.447A>G
c.455A>G (n.455A>G)
18g.52906165A>TCA402513730DCCc.534A>T (p.Gln178His)
c.335A>T
c.465A>T (p.Gln155His)
c.455A>T
n.447A>T
c.455A>T (n.455A>T)
18g.52906166G>ACA402513731DCCc.535G>A (p.Asp179Asn)
c.336G>A
c.466G>A (p.Asp156Asn)
c.456G>A
n.448G>A
c.456G>A (n.456G>A)
gnomAD v4
18g.52906166G>CCA402513732DCCc.535G>C (p.Asp179His)
c.336G>C
c.466G>C (p.Asp156His)
c.456G>C
n.448G>C
c.456G>C (n.456G>C)
18g.52906166G>TCA402513733DCCc.535G>T (p.Asp179Tyr)
c.336G>T
c.466G>T (p.Asp156Tyr)
c.456G>T
n.448G>T
c.456G>T (n.456G>T)
18g.52906167A>CCA402513734DCCc.536A>C (p.Asp179Ala)
c.337A>C
c.467A>C (p.Asp156Ala)
c.457A>C
n.449A>C
c.457A>C (n.457A>C)
18g.52906167A>GCA402513736DCCc.536A>G (p.Asp179Gly)
c.337A>G
c.467A>G (p.Asp156Gly)
c.457A>G
n.449A>G
c.457A>G (n.457A>G)
18g.52906167A>TCA402513735DCCc.536A>T (p.Asp179Val)
c.337A>T
c.467A>T (p.Asp156Val)
c.457A>T
n.449A>T
c.457A>T (n.457A>T)
18g.52906168C>ACA402513737DCCc.537C>A (p.Asp179Glu)
c.338C>A
c.468C>A (p.Asp156Glu)
c.458C>A
n.450C>A
c.458C>A (n.458C>A)
gnomAD v4
18g.52906168C>GCA402513738DCCc.537C>G (p.Asp179Glu)
c.338C>G
c.468C>G (p.Asp156Glu)
c.458C>G
n.450C>G
c.458C>G (n.458C>G)
18g.52906168C>TCA503999354DCCc.537C>T (p.Asp179=)
c.338C>T
c.468C>T (p.Asp156=)
c.458C>T
n.450C>T
c.458C>T (n.458C>T)
18g.52906169C>ACA402513739DCCc.538C>A (p.Leu180Met)
c.339C>A
c.469C>A (p.Leu157Met)
c.459C>A
n.451C>A
c.459C>A (n.459C>A)
18g.52906169C>GCA402513740DCCc.538C>G (p.Leu180Val)
c.339C>G
c.469C>G (p.Leu157Val)
c.459C>G
n.451C>G
c.459C>G (n.459C>G)
18g.52906169C>TCA503999355DCCc.538C>T (p.Leu180=)
c.339C>T
c.469C>T (p.Leu157=)
c.459C>T
n.451C>T
c.459C>T (n.459C>T)
18g.52906170T>ACA402513741DCCc.539T>A (p.Leu180Gln)
c.340T>A
c.470T>A (p.Leu157Gln)
c.460T>A
n.452T>A
c.460T>A (n.460T>A)
18g.52906170T>CCA402513743DCCc.539T>C (p.Leu180Pro)
c.340T>C
c.470T>C (p.Leu157Pro)
c.460T>C
n.452T>C
c.460T>C (n.460T>C)
18g.52906170T>GCA402513742DCCc.539T>G (p.Leu180Arg)
c.340T>G
c.470T>G (p.Leu157Arg)
c.460T>G
n.452T>G
c.460T>G (n.460T>G)
18g.52906171G>ACA300657951DCCc.540G>A (p.Leu180=)
c.341G>A
c.471G>A (p.Leu157=)
c.461G>A
n.453G>A
c.461G>A (n.461G>A)
dbSNP gnomAD v4
18g.52906171G>CCA503999357DCCc.540G>C (p.Leu180=)
c.341G>C
c.471G>C (p.Leu157=)
c.461G>C
n.453G>C
c.461G>C (n.461G>C)
18g.52906171G=CA2303875048DCCc.540G= (p.Leu180=)
c.341G=
c.471G= (p.Leu157=)
c.461G=
n.453G=
c.461G= (n.461G=)
18g.52906171G>TCA503999356DCCc.540G>T (p.Leu180=)
c.341G>T
c.471G>T (p.Leu157=)
c.461G>T
n.453G>T
c.461G>T (n.461G>T)
18g.52906172A=CA2303875049DCCc.541A= (p.Thr181=)
c.342A=
c.472A= (p.Thr158=)
c.462A=
n.454A=
c.462A= (n.462A=)
18g.52906172A>CCA402513744DCCc.541A>C (p.Thr181Pro)
c.342A>C
c.472A>C (p.Thr158Pro)
c.462A>C
n.454A>C
c.462A>C (n.462A>C)
18g.52906172A>GCA8966564DCCc.541A>G (p.Thr181Ala)
c.342A>G
c.472A>G (p.Thr158Ala)
c.462A>G
n.454A>G
c.462A>G (n.462A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906172A>TCA402513745DCCc.541A>T (p.Thr181Ser)
c.342A>T
c.472A>T (p.Thr158Ser)
c.462A>T
n.454A>T
c.462A>T (n.462A>T)
18g.52906173C>ACA402513746DCCc.542C>A (p.Thr181Asn)
c.343C>A
c.473C>A (p.Thr158Asn)
c.463C>A
n.455C>A
c.463C>A (n.463C>A)
18g.52906173C>GCA402513747DCCc.542C>G (p.Thr181Ser)
c.343C>G
c.473C>G (p.Thr158Ser)
c.463C>G
n.455C>G
c.463C>G (n.463C>G)
18g.52906173C>TCA402513748DCCc.542C>T (p.Thr181Ile)
c.343C>T
c.473C>T (p.Thr158Ile)
c.463C>T
n.455C>T
c.463C>T (n.463C>T)
gnomAD v4
18g.52906174T>ACA503999358DCCc.543T>A (p.Thr181=)
c.344T>A
c.474T>A (p.Thr158=)
c.464T>A
n.456T>A
c.464T>A (n.464T>A)
gnomAD v4
18g.52906174T>CCA503999359DCCc.543T>C (p.Thr181=)
c.344T>C
c.474T>C (p.Thr158=)
c.464T>C
n.456T>C
c.464T>C (n.464T>C)
18g.52906174T>GCA503999360DCCc.543T>G (p.Thr181=)
c.344T>G
c.474T>G (p.Thr158=)
c.464T>G
n.456T>G
c.464T>G (n.464T>G)
18g.52906175C>ACA402513749DCCc.544C>A (p.Pro182Thr)
c.345C>A
c.475C>A (p.Pro159Thr)
c.465C>A
n.457C>A
c.465C>A (n.465C>A)
gnomAD v4
18g.52906175C=CA2303875050DCCc.544C= (p.Pro182=)
c.345C=
c.475C= (p.Pro159=)
c.465C=
n.457C=
c.465C= (n.465C=)
18g.52906175C>GCA8966565DCCc.544C>G (p.Pro182Ala)
c.345C>G
c.475C>G (p.Pro159Ala)
c.465C>G
n.457C>G
c.465C>G (n.465C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906175C>TCA402513750DCCc.544C>T (p.Pro182Ser)
c.345C>T
c.475C>T (p.Pro159Ser)
c.465C>T
n.457C>T
c.465C>T (n.465C>T)
COSMIC
18g.52906176C>ACA402513751DCCc.545C>A (p.Pro182Gln)
c.346C>A
c.476C>A (p.Pro159Gln)
c.466C>A
n.458C>A
c.466C>A (n.466C>A)
18g.52906176C>GCA402513752DCCc.545C>G (p.Pro182Arg)
c.346C>G
c.476C>G (p.Pro159Arg)
c.466C>G
n.458C>G
c.466C>G (n.466C>G)
18g.52906176C>TCA402513753DCCc.545C>T (p.Pro182Leu)
c.346C>T
c.476C>T (p.Pro159Leu)
c.466C>T
n.458C>T
c.466C>T (n.466C>T)
COSMIC COSMIC
18g.52906177A=CA2303875051DCCc.546A= (p.Pro182=)
c.347A=
c.477A= (p.Pro159=)
c.467A=
n.459A=
c.467A= (n.467A=)
18g.52906177A>CCA503999361DCCc.546A>C (p.Pro182=)
c.347A>C
c.477A>C (p.Pro159=)
c.467A>C
n.459A>C
c.467A>C (n.467A>C)
gnomAD v4
18g.52906177A>GCA503999362DCCc.546A>G (p.Pro182=)
c.347A>G
c.477A>G (p.Pro159=)
c.467A>G
n.459A>G
c.467A>G (n.467A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.52906177A>TCA503999363DCCc.546A>T (p.Pro182=)
c.347A>T
c.477A>T (p.Pro159=)
c.467A>T
n.459A>T
c.467A>T (n.467A>T)
18g.52906178A=CA2303875052DCCc.547A= (p.Ile183=)
c.348A=
c.478A= (p.Ile160=)
c.468A=
n.460A=
c.468A= (n.468A=)
18g.52906178A>CCA402513754DCCc.547A>C (p.Ile183Leu)
c.348A>C
c.478A>C (p.Ile160Leu)
c.468A>C
n.460A>C
c.468A>C (n.468A>C)
18g.52906178A>GCA402513756DCCc.547A>G (p.Ile183Val)
c.348A>G
c.478A>G (p.Ile160Val)
c.468A>G
n.460A>G
c.468A>G (n.468A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.52906178A>TCA402513755DCCc.547A>T (p.Ile183Phe)
c.348A>T
c.478A>T (p.Ile160Phe)
c.468A>T
n.460A>T
c.468A>T (n.468A>T)
18g.52906179T>ACA402513757DCCc.548T>A (p.Ile183Asn)
c.349T>A
c.479T>A (p.Ile160Asn)
c.469T>A
n.461T>A
c.469T>A (n.469T>A)
18g.52906179T>CCA402513758DCCc.548T>C (p.Ile183Thr)
c.349T>C
c.479T>C (p.Ile160Thr)
c.469T>C
n.461T>C
c.469T>C (n.469T>C)
18g.52906179T>GCA402513759DCCc.548T>G (p.Ile183Ser)
c.349T>G
c.479T>G (p.Ile160Ser)
c.469T>G
n.461T>G
c.469T>G (n.469T>G)
18g.52906180C>ACA503999365DCCc.549C>A (p.Ile183=)
c.350C>A
c.480C>A (p.Ile160=)
c.470C>A
n.462C>A
c.470C>A (n.470C>A)
18g.52906180C=CA2303875053DCCc.549C= (p.Ile183=)
c.350C=
c.480C= (p.Ile160=)
c.470C=
n.462C=
c.470C= (n.470C=)
18g.52906180C>GCA402513760DCCc.549C>G (p.Ile183Met)
c.350C>G
c.480C>G (p.Ile160Met)
c.470C>G
n.462C>G
c.470C>G (n.470C>G)
18g.52906180C>TCA503999364DCCc.549C>T (p.Ile183=)
c.350C>T
c.480C>T (p.Ile160=)
c.470C>T
n.462C>T
c.470C>T (n.470C>T)
ClinVar dbSNP COSMIC COSMIC
18g.52906181C>ACA402513761DCCc.550C>A (p.Pro184Thr)
c.351C>A
c.481C>A (p.Pro161Thr)
c.471C>A
n.463C>A
c.471C>A (n.471C>A)
18g.52906181C>GCA402513762DCCc.550C>G (p.Pro184Ala)
c.351C>G
c.481C>G (p.Pro161Ala)
c.471C>G
n.463C>G
c.471C>G (n.471C>G)
18g.52906181C>TCA402513763DCCc.550C>T (p.Pro184Ser)
c.351C>T
c.481C>T (p.Pro161Ser)
c.471C>T
n.463C>T
c.471C>T (n.471C>T)
COSMIC COSMIC
18g.52906182C>ACA402513764DCCc.551C>A (p.Pro184Gln)
c.352C>A
c.482C>A (p.Pro161Gln)
c.472C>A
n.464C>A
c.472C>A (n.472C>A)
18g.52906182C=CA2303875054DCCc.551C= (p.Pro184=)
c.352C=
c.482C= (p.Pro161=)
c.472C=
n.464C=
c.472C= (n.472C=)
18g.52906182C>GCA402513765DCCc.551C>G (p.Pro184Arg)
c.352C>G
c.482C>G (p.Pro161Arg)
c.472C>G
n.464C>G
c.472C>G (n.472C>G)
18g.52906182C>TCA8966566DCCc.551C>T (p.Pro184Leu)
c.352C>T
c.482C>T (p.Pro161Leu)
c.472C>T
n.464C>T
c.472C>T (n.472C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.52906183A=CA2303875055DCCc.552A= (p.Pro184=)
c.353A=
c.483A= (p.Pro161=)
c.473A=
n.465A=
c.473A= (n.473A=)
18g.52906183A>CCA503999366DCCc.552A>C (p.Pro184=)
c.353A>C
c.483A>C (p.Pro161=)
c.473A>C
n.465A>C
c.473A>C (n.473A>C)
18g.52906183A>GCA503999367DCCc.552A>G (p.Pro184=)
c.353A>G
c.483A>G (p.Pro161=)
c.473A>G
n.465A>G
c.473A>G (n.473A>G)
dbSNP gnomAD v4
18g.52906183A>TCA503999368DCCc.552A>T (p.Pro184=)
c.353A>T
c.483A>T (p.Pro161=)
c.473A>T
n.465A>T
c.473A>T (n.473A>T)
18g.52906184G>ACA402513766DCCc.553G>A (p.Gly185Ser)
c.354G>A
c.484G>A (p.Gly162Ser)
c.474G>A
n.466G>A
c.474G>A (n.474G>A)
18g.52906184G>CCA8966567DCCc.553G>C (p.Gly185Arg)
c.354G>C
c.484G>C (p.Gly162Arg)
c.474G>C
n.466G>C
c.474G>C (n.474G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.52906184G=CA2303875056DCCc.553G= (p.Gly185=)
c.354G=
c.484G= (p.Gly162=)
c.474G=
n.466G=
c.474G= (n.474G=)
18g.52906184G>TCA402513767DCCc.553G>T (p.Gly185Cys)
c.354G>T
c.484G>T (p.Gly162Cys)
c.474G>T
n.466G>T
c.474G>T (n.474G>T)
18g.52906185G>ACA402513768DCCc.554G>A (p.Gly185Asp)
c.355G>A
c.485G>A (p.Gly162Asp)
c.475G>A
n.467G>A
c.475G>A (n.475G>A)
gnomAD v4
18g.52906185G>CCA402513770DCCc.554G>C (p.Gly185Ala)
c.355G>C
c.485G>C (p.Gly162Ala)
c.475G>C
n.467G>C
c.475G>C (n.475G>C)
18g.52906185G=CA2303875057DCCc.554G= (p.Gly185=)
c.355G=
c.485G= (p.Gly162=)
c.475G=
n.467G=
c.475G= (n.475G=)
18g.52906185G>TCA402513769DCCc.554G>T (p.Gly185Val)
c.355G>T
c.485G>T (p.Gly162Val)
c.475G>T
n.467G>T
c.475G>T (n.475G>T)
dbSNP gnomAD v2 gnomAD v4
18g.52906186T>ACA503999369DCCc.555T>A (p.Gly185=)
c.356T>A
c.486T>A (p.Gly162=)
c.476T>A
n.468T>A
c.476T>A (n.476T>A)
18g.52906186T>CCA503999370DCCc.555T>C (p.Gly185=)
c.356T>C
c.486T>C (p.Gly162=)
c.476T>C
n.468T>C
c.476T>C (n.476T>C)
dbSNP
18g.52906186T>GCA300657952DCCc.555T>G (p.Gly185=)
c.356T>G
c.486T>G (p.Gly162=)
c.476T>G
n.468T>G
c.476T>G (n.476T>G)
dbSNP
18g.52906186T=CA2303875058DCCc.555T= (p.Gly185=)
c.356T=
c.486T= (p.Gly162=)
c.476T=
n.468T=
c.476T= (n.476T=)
18g.52906187G>ACA402513771DCCc.556G>A (p.Asp186Asn)
c.357G>A
c.487G>A (p.Asp163Asn)
c.477G>A
n.469G>A
c.477G>A (n.477G>A)
18g.52906187G>CCA402513772DCCc.556G>C (p.Asp186His)
c.357G>C
c.487G>C (p.Asp163His)
c.477G>C
n.469G>C
c.477G>C (n.477G>C)
dbSNP gnomAD v3 gnomAD v4
18g.52906187G=CA2303875059DCCc.556G= (p.Asp186=)
c.357G=
c.487G= (p.Asp163=)
c.477G=
n.469G=
c.477G= (n.477G=)
18g.52906187G>TCA402513773DCCc.556G>T (p.Asp186Tyr)
c.357G>T
c.487G>T (p.Asp163Tyr)
c.477G>T
n.469G>T
c.477G>T (n.477G>T)
18g.52906188A>CCA402513774DCCc.557A>C (p.Asp186Ala)
c.358A>C
c.488A>C (p.Asp163Ala)
c.478A>C
n.470A>C
c.478A>C (n.478A>C)
gnomAD v4
18g.52906188A>GCA402513775DCCc.557A>G (p.Asp186Gly)
c.358A>G
c.488A>G (p.Asp163Gly)
c.478A>G
n.470A>G
c.478A>G (n.478A>G)
18g.52906188A>TCA402513776DCCc.557A>T (p.Asp186Val)
c.358A>T
c.488A>T (p.Asp163Val)
c.478A>T
n.470A>T
c.478A>T (n.478A>T)
18g.52906189C>ACA402513777DCCc.558C>A (p.Asp186Glu)
c.359C>A
c.489C>A (p.Asp163Glu)
c.479C>A
n.471C>A
c.479C>A (n.479C>A)
18g.52906189C>GCA402513778DCCc.558C>G (p.Asp186Glu)
c.359C>G
c.489C>G (p.Asp163Glu)
c.479C>G
n.471C>G
c.479C>G (n.479C>G)
18g.52906189C>TCA503999371DCCc.558C>T (p.Asp186=)
c.359C>T
c.489C>T (p.Asp163=)
c.479C>T
n.471C>T
c.479C>T (n.479C>T)
gnomAD v4
18g.52906190T>ACA402513779DCCc.559T>A (p.Ser187Thr)
c.360T>A
c.490T>A (p.Ser164Thr)
c.480T>A
n.472T>A
c.480T>A (n.480T>A)
18g.52906190T>CCA402513780DCCc.559T>C (p.Ser187Pro)
c.360T>C
c.490T>C (p.Ser164Pro)
c.480T>C
n.472T>C
c.480T>C (n.480T>C)
dbSNP gnomAD v4
18g.52906190T>GCA402513781DCCc.559T>G (p.Ser187Ala)
c.360T>G
c.490T>G (p.Ser164Ala)
c.480T>G
n.472T>G
c.480T>G (n.480T>G)
18g.52906190T=CA2303875060DCCc.559T= (p.Ser187=)
c.360T=
c.490T= (p.Ser164=)
c.480T=
n.472T=
c.480T= (n.480T=)
18g.52906191C>ACA8966568DCCc.560C>A (p.Ser187Tyr)
c.361C>A
c.491C>A (p.Ser164Tyr)
c.481C>A
n.473C>A
c.481C>A (n.481C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.52906191C=CA2303875061DCCc.560C= (p.Ser187=)
c.361C=
c.491C= (p.Ser164=)
c.481C=
n.473C=
c.481C= (n.481C=)
18g.52906191C>GCA402513783DCCc.560C>G (p.Ser187Cys)
c.361C>G
c.491C>G (p.Ser164Cys)
c.481C>G
n.473C>G
c.481C>G (n.481C>G)
18g.52906191C>TCA402513782DCCc.560C>T (p.Ser187Phe)
c.361C>T
c.491C>T (p.Ser164Phe)
c.481C>T
n.473C>T
c.481C>T (n.481C>T)
18g.52906192C>ACA503999372DCCc.561C>A (p.Ser187=)
c.362C>A
c.492C>A (p.Ser164=)
c.482C>A
n.474C>A
c.482C>A (n.482C>A)
18g.52906192C=CA2303875062DCCc.561C= (p.Ser187=)
c.362C=
c.492C= (p.Ser164=)
c.482C=
n.474C=
c.482C= (n.482C=)
18g.52906192C>GCA503999373DCCc.561C>G (p.Ser187=)
c.362C>G
c.492C>G (p.Ser164=)
c.482C>G
n.474C>G
c.482C>G (n.482C>G)
18g.52906192C>TCA8966569DCCc.561C>T (p.Ser187=)
c.362C>T
c.492C>T (p.Ser164=)
c.482C>T
n.474C>T
c.482C>T (n.482C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906193C>ACA503999374DCCc.562C>A (p.Arg188=)
c.363C>A
c.493C>A (p.Arg165=)
c.483C>A
n.475C>A
c.483C>A (n.483C>A)
dbSNP gnomAD v4 COSMIC COSMIC
18g.52906193C=CA2303875063DCCc.562C= (p.Arg188=)
c.363C=
c.493C= (p.Arg165=)
c.483C=
n.475C=
c.483C= (n.483C=)
18g.52906193C>GCA402513784DCCc.562C>G (p.Arg188Gly)
c.363C>G
c.493C>G (p.Arg165Gly)
c.483C>G
n.475C>G
c.483C>G (n.483C>G)
gnomAD v4
18g.52906193C>TCA402513785DCCc.562C>T (p.Arg188Ter)
c.363C>T
c.493C>T (p.Arg165Ter)
c.483C>T
n.475C>T
c.483C>T (n.483C>T)
gnomAD v4 COSMIC
18g.52906194G>ACA402513786DCCc.563G>A (p.Arg188Gln)
c.364G>A
c.494G>A (p.Arg165Gln)
c.484G>A
n.476G>A
c.484G>A (n.484G>A)
dbSNP gnomAD v2 gnomAD v4
18g.52906194G>CCA402513788DCCc.563G>C (p.Arg188Pro)
c.364G>C
c.494G>C (p.Arg165Pro)
c.484G>C
n.476G>C
c.484G>C (n.484G>C)
gnomAD v4
18g.52906194G=CA2303875064DCCc.563G= (p.Arg188=)
c.364G=
c.494G= (p.Arg165=)
c.484G=
n.476G=
c.484G= (n.484G=)
18g.52906194G>TCA402513787DCCc.563G>T (p.Arg188Leu)
c.364G>T
c.494G>T (p.Arg165Leu)
c.484G>T
n.476G>T
c.484G>T (n.484G>T)
18g.52906195A=CA2303875065DCCc.564A= (p.Arg188=)
c.365A=
c.495A= (p.Arg165=)
c.485A=
n.477A=
c.485A= (n.485A=)
18g.52906195A>CCA503999375DCCc.564A>C (p.Arg188=)
c.365A>C
c.495A>C (p.Arg165=)
c.485A>C
n.477A>C
c.485A>C (n.485A>C)
18g.52906195A>GCA503999376DCCc.564A>G (p.Arg188=)
c.365A>G
c.495A>G (p.Arg165=)
c.485A>G
n.477A>G
c.485A>G (n.485A>G)
gnomAD v4
18g.52906195A>TCA503999377DCCc.564A>T (p.Arg188=)
c.365A>T
c.495A>T (p.Arg165=)
c.485A>T
n.477A>T
c.485A>T (n.485A>T)
dbSNP gnomAD v2 gnomAD v4
18g.52906196G>ACA402513789DCCc.565G>A (p.Val189Met)
c.366G>A
c.496G>A (p.Val166Met)
c.486G>A
n.478G>A
c.486G>A (n.486G>A)
18g.52906196G>CCA8966570DCCc.565G>C (p.Val189Leu)
c.366G>C
c.496G>C (p.Val166Leu)
c.486G>C
n.478G>C
c.486G>C (n.486G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.52906196G=CA2303875066DCCc.565G= (p.Val189=)
c.366G=
c.496G= (p.Val166=)
c.486G=
n.478G=
c.486G= (n.486G=)
18g.52906196G>TCA402513790DCCc.565G>T (p.Val189Leu)
c.366G>T
c.496G>T (p.Val166Leu)
c.486G>T
n.478G>T
c.486G>T (n.486G>T)
18g.52906197T>ACA402513791DCCc.566T>A (p.Val189Glu)
c.367T>A
c.497T>A (p.Val166Glu)
c.487T>A
n.479T>A
c.487T>A (n.487T>A)
18g.52906197T>CCA402513792DCCc.566T>C (p.Val189Ala)
c.367T>C
c.497T>C (p.Val166Ala)
c.487T>C
n.479T>C
c.487T>C (n.487T>C)
18g.52906197T>GCA402513793DCCc.566T>G (p.Val189Gly)
c.367T>G
c.497T>G (p.Val166Gly)
c.487T>G
n.479T>G
c.487T>G (n.487T>G)
18g.52906198G>ACA503999378DCCc.567G>A (p.Val189=)
c.368G>A
c.498G>A (p.Val166=)
c.488G>A
n.480G>A
c.488G>A (n.488G>A)
COSMIC COSMIC
18g.52906198G>CCA503999379DCCc.567G>C (p.Val189=)
c.368G>C
c.498G>C (p.Val166=)
c.488G>C
n.480G>C
c.488G>C (n.488G>C)
18g.52906198G>TCA503999380DCCc.567G>T (p.Val189=)
c.368G>T
c.498G>T (p.Val166=)
c.488G>T
n.480G>T
c.488G>T (n.488G>T)
18g.52906199G>ACA402513794DCCc.568G>A (p.Val190Met)
c.369G>A
c.499G>A (p.Val167Met)
c.489G>A
n.481G>A
c.489G>A (n.489G>A)
18g.52906199G>CCA402513795DCCc.568G>C (p.Val190Leu)
c.369G>C
c.499G>C (p.Val167Leu)
c.489G>C
n.481G>C
c.489G>C (n.489G>C)
gnomAD v4
18g.52906199G>TCA402513796DCCc.568G>T (p.Val190Leu)
c.369G>T
c.499G>T (p.Val167Leu)
c.489G>T
n.481G>T
c.489G>T (n.489G>T)
18g.52906200T>ACA402513797DCCc.569T>A (p.Val190Glu)
c.370T>A
c.500T>A (p.Val167Glu)
c.490T>A
n.482T>A
c.490T>A (n.490T>A)
18g.52906200T>CCA402513798DCCc.569T>C (p.Val190Ala)
c.370T>C
c.500T>C (p.Val167Ala)
c.490T>C
n.482T>C
c.490T>C (n.490T>C)
dbSNP gnomAD v3 gnomAD v4
18g.52906200T>GCA402513799DCCc.569T>G (p.Val190Gly)
c.370T>G
c.500T>G (p.Val167Gly)
c.490T>G
n.482T>G
c.490T>G (n.490T>G)
18g.52906200T=CA2303875067DCCc.569T= (p.Val190=)
c.370T=
c.500T= (p.Val167=)
c.490T=
n.482T=
c.490T= (n.490T=)
18g.52906201G>ACA8966571DCCc.570G>A (p.Val190=)
c.371G>A
c.501G>A (p.Val167=)
c.491G>A
n.483G>A
c.491G>A (n.491G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906201G>CCA503999382DCCc.570G>C (p.Val190=)
c.371G>C
c.501G>C (p.Val167=)
c.491G>C
n.483G>C
c.491G>C (n.491G>C)
18g.52906201G=CA2303875068DCCc.570G= (p.Val190=)
c.371G=
c.501G= (p.Val167=)
c.491G=
n.483G=
c.491G= (n.491G=)
18g.52906201G>TCA503999381DCCc.570G>T (p.Val190=)
c.371G>T
c.501G>T (p.Val167=)
c.491G>T
n.483G>T
c.491G>T (n.491G>T)
18g.52906202dupCA347158DCCc.571dup (p.Val191GlyfsTer?)
c.372dup
c.502dup (p.Val168GlyfsTer?)
c.492dup
n.484dup
c.492dup (n.492dup)
ClinVar dbSNP
18g.52906202G>ACA402513800DCCc.571G>A (p.Val191Ile)
c.372G>A
c.502G>A (p.Val168Ile)
c.492G>A
n.484G>A
c.492G>A (n.492G>A)
gnomAD v4
18g.52906202G>CCA402513801DCCc.571G>C (p.Val191Leu)
c.372G>C
c.502G>C (p.Val168Leu)
c.492G>C
n.484G>C
c.492G>C (n.492G>C)
gnomAD v4
18g.52906202G=CA2303875069DCCc.571G= (p.Val191=)
c.372G=
c.502G= (p.Val168=)
c.492G=
n.484G=
c.492G= (n.492G=)
18g.52906202G>TCA8966572DCCc.571G>T (p.Val191Phe)
c.372G>T
c.502G>T (p.Val168Phe)
c.492G>T
n.484G>T
c.492G>T (n.492G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906203T>ACA402513802DCCc.572T>A (p.Val191Asp)
c.373T>A
c.503T>A (p.Val168Asp)
c.493T>A
n.485T>A
c.493T>A (n.493T>A)
18g.52906203T>CCA402513803DCCc.572T>C (p.Val191Ala)
c.373T>C
c.503T>C (p.Val168Ala)
c.493T>C
n.485T>C
c.493T>C (n.493T>C)
gnomAD v4
18g.52906203T>GCA402513804DCCc.572T>G (p.Val191Gly)
c.373T>G
c.503T>G (p.Val168Gly)
c.493T>G
n.485T>G
c.493T>G (n.493T>G)
18g.52906204C>ACA503999383DCCc.573C>A (p.Val191=)
c.374C>A
c.504C>A (p.Val168=)
c.494C>A
n.486C>A
c.494C>A (n.494C>A)
18g.52906204C>GCA503999384DCCc.573C>G (p.Val191=)
c.374C>G
c.504C>G (p.Val168=)
c.494C>G
n.486C>G
c.494C>G (n.494C>G)
18g.52906204C>TCA503999385DCCc.573C>T (p.Val191=)
c.374C>T
c.504C>T (p.Val168=)
c.494C>T
n.486C>T
c.494C>T (n.494C>T)
18g.52906205T>ACA402513805DCCc.574T>A (p.Leu192Met)
c.375T>A
c.505T>A (p.Leu169Met)
c.495T>A
n.487T>A
c.495T>A (n.495T>A)
18g.52906205T>CCA503999386DCCc.574T>C (p.Leu192=)
c.375T>C
c.505T>C (p.Leu169=)
c.495T>C
n.487T>C
c.495T>C (n.495T>C)
18g.52906205T>GCA300657953DCCc.574T>G (p.Leu192Val)
c.375T>G
c.505T>G (p.Leu169Val)
c.495T>G
n.487T>G
c.495T>G (n.495T>G)
dbSNP
18g.52906205T=CA2303875070DCCc.574T= (p.Leu192=)
c.375T=
c.505T= (p.Leu169=)
c.495T=
n.487T=
c.495T= (n.495T=)
18g.52906206T>ACA402513806DCCc.575T>A (p.Leu192Ter)
c.376T>A
c.506T>A (p.Leu169Ter)
c.496T>A
n.488T>A
c.496T>A (n.496T>A)
18g.52906206T>CCA402513807DCCc.575T>C (p.Leu192Ser)
c.376T>C
c.506T>C (p.Leu169Ser)
c.496T>C
n.488T>C
c.496T>C (n.496T>C)
18g.52906206T>GCA402513808DCCc.575T>G (p.Leu192Trp)
c.376T>G
c.506T>G (p.Leu169Trp)
c.496T>G
n.488T>G
c.496T>G (n.496T>G)
18g.52906207G>ACA503999387DCCc.576G>A (p.Leu192=)
c.377G>A
c.507G>A (p.Leu169=)
c.497G>A
n.489G>A
c.497G>A (n.497G>A)
18g.52906207G>CCA402513810DCCc.576G>C (p.Leu192Phe)
c.377G>C
c.507G>C (p.Leu169Phe)
c.497G>C
n.489G>C
c.497G>C (n.497G>C)
18g.52906207G>TCA402513809DCCc.576G>T (p.Leu192Phe)
c.377G>T
c.507G>T (p.Leu169Phe)
c.497G>T
n.489G>T
c.497G>T (n.497G>T)
gnomAD v4
18g.52906208C>ACA402513811DCCc.577C>A (p.Pro193Thr)
c.378C>A
c.508C>A (p.Pro170Thr)
c.498C>A
n.490C>A
c.498C>A (n.498C>A)
gnomAD v4
18g.52906208C=CA2303875071DCCc.577C= (p.Pro193=)
c.378C=
c.508C= (p.Pro170=)
c.498C=
n.490C=
c.498C= (n.498C=)
18g.52906208C>GCA402513812DCCc.577C>G (p.Pro193Ala)
c.378C>G
c.508C>G (p.Pro170Ala)
c.498C>G
n.490C>G
c.498C>G (n.498C>G)
18g.52906208C>TCA402513813DCCc.577C>T (p.Pro193Ser)
c.378C>T
c.508C>T (p.Pro170Ser)
c.498C>T
n.490C>T
c.498C>T (n.498C>T)
dbSNP gnomAD v2 gnomAD v4
18g.52906209C>ACA402513814DCCc.578C>A (p.Pro193His)
c.379C>A
c.509C>A (p.Pro170His)
c.499C>A
n.491C>A
c.499C>A (n.499C>A)
COSMIC COSMIC
18g.52906209C>GCA402513815DCCc.578C>G (p.Pro193Arg)
c.379C>G
c.509C>G (p.Pro170Arg)
c.499C>G
n.491C>G
c.499C>G (n.499C>G)
gnomAD v4
18g.52906209C>TCA402513816DCCc.578C>T (p.Pro193Leu)
c.379C>T
c.509C>T (p.Pro170Leu)
c.499C>T
n.491C>T
c.499C>T (n.499C>T)
18g.52906210C>ACA503999390DCCc.579C>A (p.Pro193=)
c.380C>A
c.510C>A (p.Pro170=)
c.500C>A
n.492C>A
c.500C>A (n.500C>A)
18g.52906210C=CA2303875072DCCc.579C= (p.Pro193=)
c.380C=
c.510C= (p.Pro170=)
c.500C=
n.492C=
c.500C= (n.500C=)
18g.52906210C>GCA503999392DCCc.579C>G (p.Pro193=)
c.380C>G
c.510C>G (p.Pro170=)
c.500C>G
n.492C>G
c.500C>G (n.500C>G)
18g.52906210C>TCA8966573DCCc.579C>T (p.Pro193=)
c.380C>T
c.510C>T (p.Pro170=)
c.500C>T
n.492C>T
c.500C>T (n.500C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.52906211T>ACA402513817DCCc.580T>A (p.Ser194Thr)
c.381T>A
c.511T>A (p.Ser171Thr)
c.501T>A
n.493T>A
c.501T>A (n.501T>A)
18g.52906211T>CCA402513819DCCc.580T>C (p.Ser194Pro)
c.381T>C
c.511T>C (p.Ser171Pro)
c.501T>C
n.493T>C
c.501T>C (n.501T>C)
18g.52906211T>GCA402513818DCCc.580T>G (p.Ser194Ala)
c.381T>G
c.511T>G (p.Ser171Ala)
c.501T>G
n.493T>G
c.501T>G (n.501T>G)
18g.52906212C>ACA402513820DCCc.581C>A (p.Ser194Tyr)
c.382C>A
c.512C>A (p.Ser171Tyr)
c.502C>A
n.494C>A
c.502C>A (n.502C>A)
18g.52906212C>GCA402513821DCCc.581C>G (p.Ser194Cys)
c.382C>G
c.512C>G (p.Ser171Cys)
c.502C>G
n.494C>G
c.502C>G (n.502C>G)
18g.52906212C>TCA402513822DCCc.581C>T (p.Ser194Phe)
c.382C>T
c.512C>T (p.Ser171Phe)
c.502C>T
n.494C>T
c.502C>T (n.502C>T)
ClinVar
18g.52906213T>ACA503999394DCCc.582T>A (p.Ser194=)
c.383T>A
c.513T>A (p.Ser171=)
c.503T>A
n.495T>A
c.503T>A (n.503T>A)
18g.52906213T>CCA300657954DCCc.582T>C (p.Ser194=)
c.383T>C
c.513T>C (p.Ser171=)
c.503T>C
n.495T>C
c.503T>C (n.503T>C)
dbSNP gnomAD v4
18g.52906213T>GCA503999395DCCc.582T>G (p.Ser194=)
c.383T>G
c.513T>G (p.Ser171=)
c.503T>G
n.495T>G
c.503T>G (n.503T>G)
18g.52906213T=CA2303875073DCCc.582T= (p.Ser194=)
c.383T=
c.513T= (p.Ser171=)
c.503T=
n.495T=
c.503T= (n.503T=)
18g.52906214G>ACA402513823DCCc.583G>A (p.Gly195Arg)
c.384G>A
c.514G>A (p.Gly172Arg)
c.504G>A
n.496G>A
c.504G>A (n.504G>A)
dbSNP
18g.52906214G>CCA402513825DCCc.583G>C (p.Gly195Arg)
c.384G>C
c.514G>C (p.Gly172Arg)
c.504G>C
n.496G>C
c.504G>C (n.504G>C)
18g.52906214G>TCA402513824DCCc.583G>T (p.Gly195Ter)
c.384G>T
c.514G>T (p.Gly172Ter)
c.504G>T
n.496G>T
c.504G>T (n.504G>T)
18g.52906215G>ACA402513826DCCc.584G>A (p.Gly195Glu)
c.385G>A
c.515G>A (p.Gly172Glu)
c.505G>A
n.497G>A
c.505G>A (n.505G>A)
18g.52906215G>CCA402513827DCCc.584G>C (p.Gly195Ala)
c.385G>C
c.515G>C (p.Gly172Ala)
c.505G>C
n.497G>C
c.505G>C (n.505G>C)
18g.52906215G>TCA402513828DCCc.584G>T (p.Gly195Val)
c.385G>T
c.515G>T (p.Gly172Val)
c.505G>T
n.497G>T
c.505G>T (n.505G>T)
18g.52906216A=CA2303875074DCCc.585A= (p.Gly195=)
c.386A=
c.516A= (p.Gly172=)
c.506A=
n.498A=
c.506A= (n.506A=)
18g.52906216A>CCA503999398DCCc.585A>C (p.Gly195=)
c.386A>C
c.516A>C (p.Gly172=)
c.506A>C
n.498A>C
c.506A>C (n.506A>C)
18g.52906216A>GCA503999399DCCc.585A>G (p.Gly195=)
c.386A>G
c.516A>G (p.Gly172=)
c.506A>G
n.498A>G
c.506A>G (n.506A>G)
dbSNP gnomAD v2 gnomAD v4
18g.52906216A>TCA503999400DCCc.585A>T (p.Gly195=)
c.386A>T
c.516A>T (p.Gly172=)
c.506A>T
n.498A>T
c.506A>T (n.506A>T)
18g.52906217G>ACA402513829DCCc.586G>A (p.Ala196Thr)
c.387G>A
c.517G>A (p.Ala173Thr)
c.507G>A
n.499G>A
c.507G>A (n.507G>A)
dbSNP gnomAD v3 gnomAD v4
18g.52906217G>CCA402513830DCCc.586G>C (p.Ala196Pro)
c.387G>C
c.517G>C (p.Ala173Pro)
c.507G>C
n.499G>C
c.507G>C (n.507G>C)
18g.52906217G=CA2303875075DCCc.586G= (p.Ala196=)
c.387G=
c.517G= (p.Ala173=)
c.507G=
n.499G=
c.507G= (n.507G=)
18g.52906217G>TCA402513831DCCc.586G>T (p.Ala196Ser)
c.387G>T
c.517G>T (p.Ala173Ser)
c.507G>T
n.499G>T
c.507G>T (n.507G>T)
18g.52906218C>ACA402513832DCCc.587C>A (p.Ala196Glu)
c.388C>A
c.518C>A (p.Ala173Glu)
c.508C>A
n.500C>A
c.508C>A (n.508C>A)
18g.52906218C>GCA402513833DCCc.587C>G (p.Ala196Gly)
c.388C>G
c.518C>G (p.Ala173Gly)
c.508C>G
n.500C>G
c.508C>G (n.508C>G)
18g.52906218C>TCA402513834DCCc.587C>T (p.Ala196Val)
c.388C>T
c.518C>T (p.Ala173Val)
c.508C>T
n.500C>T
c.508C>T (n.508C>T)
18g.52906219A=CA2303875076DCCc.588A= (p.Ala196=)
c.389A=
c.519A= (p.Ala173=)
c.509A=
n.501A=
c.509A= (n.509A=)
18g.52906219A>CCA503999402DCCc.588A>C (p.Ala196=)
c.389A>C
c.519A>C (p.Ala173=)
c.509A>C
n.501A>C
c.509A>C (n.509A>C)
18g.52906219A>GCA503999403DCCc.588A>G (p.Ala196=)
c.389A>G
c.519A>G (p.Ala173=)
c.509A>G
n.501A>G
c.509A>G (n.509A>G)
dbSNP gnomAD v4
18g.52906219A>TCA503999404DCCc.588A>T (p.Ala196=)
c.389A>T
c.519A>T (p.Ala173=)
c.509A>T
n.501A>T
c.509A>T (n.509A>T)
18g.52906220T>ACA402513835DCCc.589T>A (p.Leu197Met)
c.390T>A
c.520T>A (p.Leu174Met)
c.510T>A
n.502T>A
c.510T>A (n.510T>A)
18g.52906220T>CCA503999405DCCc.589T>C (p.Leu197=)
c.390T>C
c.520T>C (p.Leu174=)
c.510T>C
n.502T>C
c.510T>C (n.510T>C)
dbSNP gnomAD v3 gnomAD v4
18g.52906220T>GCA402513836DCCc.589T>G (p.Leu197Val)
c.390T>G
c.520T>G (p.Leu174Val)
c.510T>G
n.502T>G
c.510T>G (n.510T>G)
18g.52906220T=CA2303875077DCCc.589T= (p.Leu197=)
c.390T=
c.520T= (p.Leu174=)
c.510T=
n.502T=
c.510T= (n.510T=)
18g.52906221T>ACA402513838DCCc.590T>A (p.Leu197Ter)
c.391T>A
c.521T>A (p.Leu174Ter)
c.511T>A
n.503T>A
c.511T>A (n.511T>A)
18g.52906221T>CCA402513839DCCc.590T>C (p.Leu197Ser)
c.391T>C
c.521T>C (p.Leu174Ser)
c.511T>C
n.503T>C
c.511T>C (n.511T>C)
18g.52906221T>GCA402513837DCCc.590T>G (p.Leu197Trp)
c.391T>G
c.521T>G (p.Leu174Trp)
c.511T>G
n.503T>G
c.511T>G (n.511T>G)
18g.52906222G>ACA503999407DCCc.591G>A (p.Leu197=)
c.392G>A
c.522G>A (p.Leu174=)
c.512G>A
n.504G>A
c.512G>A (n.512G>A)
18g.52906222G>CCA402513841DCCc.591G>C (p.Leu197Phe)
c.392G>C
c.522G>C (p.Leu174Phe)
c.512G>C
n.504G>C
c.512G>C (n.512G>C)
18g.52906222G>TCA402513840DCCc.591G>T (p.Leu197Phe)
c.392G>T
c.522G>T (p.Leu174Phe)
c.512G>T
n.504G>T
c.512G>T (n.512G>T)
COSMIC COSMIC
18g.52906223C>ACA402513842DCCc.592C>A (p.Gln198Lys)
c.393C>A
c.523C>A (p.Gln175Lys)
c.513C>A
n.505C>A
c.513C>A (n.513C>A)
dbSNP
18g.52906223C=CA2303875078DCCc.592C= (p.Gln198=)
c.393C=
c.523C= (p.Gln175=)
c.513C=
n.505C=
c.513C= (n.513C=)
18g.52906223C>GCA402513843DCCc.592C>G (p.Gln198Glu)
c.393C>G
c.523C>G (p.Gln175Glu)
c.513C>G
n.505C>G
c.513C>G (n.513C>G)
18g.52906223C>TCA402513844DCCc.592C>T (p.Gln198Ter)
c.393C>T
c.523C>T (p.Gln175Ter)
c.513C>T
n.505C>T
c.513C>T (n.513C>T)
18g.52906224A>CCA402513845DCCc.593A>C (p.Gln198Pro)
c.394A>C
c.524A>C (p.Gln175Pro)
c.514A>C
n.506A>C
c.514A>C (n.514A>C)
18g.52906224A>GCA402513846DCCc.593A>G (p.Gln198Arg)
c.394A>G
c.524A>G (p.Gln175Arg)
c.514A>G
n.506A>G
c.514A>G (n.514A>G)
18g.52906224A>TCA402513847DCCc.593A>T (p.Gln198Leu)
c.394A>T
c.524A>T (p.Gln175Leu)
c.514A>T
n.506A>T
c.514A>T (n.514A>T)
18g.52906225G>ACA503999411DCCc.594G>A (p.Gln198=)
c.395G>A
c.525G>A (p.Gln175=)
c.515G>A
n.507G>A
c.515G>A (n.515G>A)
gnomAD v4
18g.52906225G>CCA402513848DCCc.594G>C (p.Gln198His)
c.395G>C
c.525G>C (p.Gln175His)
c.515G>C
n.507G>C
c.515G>C (n.515G>C)
18g.52906225G>TCA402513849DCCc.594G>T (p.Gln198His)
c.395G>T
c.525G>T (p.Gln175His)
c.515G>T
n.507G>T
c.515G>T (n.515G>T)
18g.52906226A=CA2303875079DCCc.595A= (p.Ile199=)
c.396A=
c.526A= (p.Ile176=)
c.516A=
n.508A=
c.516A= (n.516A=)
18g.52906226A>CCA402513850DCCc.595A>C (p.Ile199Leu)
c.396A>C
c.526A>C (p.Ile176Leu)
c.516A>C
n.508A>C
c.516A>C (n.516A>C)
18g.52906226A>GCA300657955DCCc.595A>G (p.Ile199Val)
c.396A>G
c.526A>G (p.Ile176Val)
c.516A>G
n.508A>G
c.516A>G (n.516A>G)
dbSNP
18g.52906226A>TCA402513851DCCc.595A>T (p.Ile199Phe)
c.396A>T
c.526A>T (p.Ile176Phe)
c.516A>T
n.508A>T
c.516A>T (n.516A>T)
18g.52906227T>ACA402513854DCCc.596T>A (p.Ile199Asn)
c.397T>A
c.527T>A (p.Ile176Asn)
c.517T>A
n.509T>A
c.517T>A (n.517T>A)
18g.52906227T>CCA402513852DCCc.596T>C (p.Ile199Thr)
c.397T>C
c.527T>C (p.Ile176Thr)
c.517T>C
n.509T>C
c.517T>C (n.517T>C)
18g.52906227T>GCA402513853DCCc.596T>G (p.Ile199Ser)
c.397T>G
c.527T>G (p.Ile176Ser)
c.517T>G
n.509T>G
c.517T>G (n.517T>G)
18g.52906228C>ACA503999416DCCc.597C>A (p.Ile199=)
c.398C>A
c.528C>A (p.Ile176=)
c.518C>A
n.510C>A
c.518C>A (n.518C>A)
18g.52906228C=CA2303875080DCCc.597C= (p.Ile199=)
c.398C=
c.528C= (p.Ile176=)
c.518C=
n.510C=
c.518C= (n.518C=)
18g.52906228C>GCA402513855DCCc.597C>G (p.Ile199Met)
c.398C>G
c.528C>G (p.Ile176Met)
c.518C>G
n.510C>G
c.518C>G (n.518C>G)
dbSNP gnomAD v3 gnomAD v4
18g.52906228C>TCA503999415DCCc.597C>T (p.Ile199=)
c.398C>T
c.528C>T (p.Ile176=)
c.518C>T
n.510C>T
c.518C>T (n.518C>T)
COSMIC COSMIC
18g.52906229A>CCA402513856DCCc.598A>C (p.Ser200Arg)
c.399A>C
c.529A>C (p.Ser177Arg)
c.519A>C
n.511A>C
c.519A>C (n.519A>C)
18g.52906229A>GCA402513857DCCc.598A>G (p.Ser200Gly)
c.399A>G
c.529A>G (p.Ser177Gly)
c.519A>G
n.511A>G
c.519A>G (n.519A>G)
18g.52906229A>TCA402513858DCCc.598A>T (p.Ser200Cys)
c.399A>T
c.529A>T (p.Ser177Cys)
c.519A>T
n.511A>T
c.519A>T (n.519A>T)
18g.52906230G>ACA8966574DCCc.599G>A (p.Ser200Asn)
c.400G>A
c.530G>A (p.Ser177Asn)
c.520G>A
n.512G>A
c.520G>A (n.520G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.52906230G>CCA402513859DCCc.599G>C (p.Ser200Thr)
c.400G>C
c.530G>C (p.Ser177Thr)
c.520G>C
n.512G>C
c.520G>C (n.520G>C)
18g.52906230G=CA2303875081DCCc.599G= (p.Ser200=)
c.400G=
c.530G= (p.Ser177=)
c.520G=
n.512G=
c.520G= (n.520G=)
18g.52906230G>TCA402513860DCCc.599G>T (p.Ser200Ile)
c.400G>T
c.530G>T (p.Ser177Ile)
c.520G>T
n.512G>T
c.520G>T (n.520G>T)
18g.52906231C>ACA402513861DCCc.600C>A (p.Ser200Arg)
c.401C>A
c.531C>A (p.Ser177Arg)
c.521C>A
n.513C>A
c.521C>A (n.521C>A)
18g.52906231C=CA2303875082DCCc.600C= (p.Ser200=)
c.401C=
c.531C= (p.Ser177=)
c.521C=
n.513C=
c.521C= (n.521C=)
18g.52906231C>GCA402513862DCCc.600C>G (p.Ser200Arg)
c.401C>G
c.531C>G (p.Ser177Arg)
c.521C>G
n.513C>G
c.521C>G (n.521C>G)
18g.52906231C>TCA8966575DCCc.600C>T (p.Ser200=)
c.401C>T
c.531C>T (p.Ser177=)
c.521C>T
n.513C>T
c.521C>T (n.521C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906232C>ACA503999422DCCc.601C>A (p.Arg201=)
c.402C>A
c.532C>A (p.Arg178=)
c.522C>A
n.514C>A
c.522C>A (n.522C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.52906232C=CA2303875083DCCc.601C= (p.Arg201=)
c.402C=
c.532C= (p.Arg178=)
c.522C=
n.514C=
c.522C= (n.522C=)
18g.52906232C>GCA8966576DCCc.601C>G (p.Arg201Gly)
c.402C>G
c.532C>G (p.Arg178Gly)
c.522C>G
n.514C>G
c.522C>G (n.522C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906232C>TCA402513863DCCc.601C>T (p.Arg201Ter)
c.402C>T
c.532C>T (p.Arg178Ter)
c.522C>T
n.514C>T
c.522C>T (n.522C>T)
dbSNP
18g.52906233G>ACA8966577DCCc.602G>A (p.Arg201Gln)
c.403G>A
c.533G>A (p.Arg178Gln)
c.523G>A
n.515G>A
c.523G>A (n.523G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906233G>CCA402513865DCCc.602G>C (p.Arg201Pro)
c.403G>C
c.533G>C (p.Arg178Pro)
c.523G>C
n.515G>C
c.523G>C (n.523G>C)
18g.52906233G=CA2303875084DCCc.602G= (p.Arg201=)
c.403G=
c.533G= (p.Arg178=)
c.523G=
n.515G=
c.523G= (n.523G=)
18g.52906233G>TCA402513864DCCc.602G>T (p.Arg201Leu)
c.403G>T
c.533G>T (p.Arg178Leu)
c.523G>T
n.515G>T
c.523G>T (n.523G>T)
18g.52906234A>CCA503999424DCCc.603A>C (p.Arg201=)
c.404A>C
c.534A>C (p.Arg178=)
c.524A>C
n.516A>C
c.524A>C (n.524A>C)
18g.52906234A>GCA503999426DCCc.603A>G (p.Arg201=)
c.404A>G
c.534A>G (p.Arg178=)
c.524A>G
n.516A>G
c.524A>G (n.524A>G)
18g.52906234A>TCA503999425DCCc.603A>T (p.Arg201=)
c.404A>T
c.534A>T (p.Arg178=)
c.524A>T
n.516A>T
c.524A>T (n.524A>T)
18g.52906235C>ACA402513866DCCc.604C>A (p.Leu202Ile)
c.405C>A
c.535C>A (p.Leu179Ile)
c.525C>A
n.517C>A
c.525C>A (n.525C>A)
dbSNP gnomAD v3 gnomAD v4
18g.52906235C=CA2303875085DCCc.604C= (p.Leu202=)
c.405C=
c.535C= (p.Leu179=)
c.525C=
n.517C=
c.525C= (n.525C=)
18g.52906235C>GCA402513867DCCc.604C>G (p.Leu202Val)
c.405C>G
c.535C>G (p.Leu179Val)
c.525C>G
n.517C>G
c.525C>G (n.525C>G)
18g.52906235C>TCA402513868DCCc.604C>T (p.Leu202Phe)
c.405C>T
c.535C>T (p.Leu179Phe)
c.525C>T
n.517C>T
c.525C>T (n.525C>T)
dbSNP

Number of alleles fetched