Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.230710334A>CCA345206464AGTc.490T>G (p.Ser164Ala)
n.1001T>G
c.517T>G (p.Ser173Ala)
1g.230710334A>GCA345206467AGTc.490T>C (p.Ser164Pro)
n.1001T>C
c.517T>C (p.Ser173Pro)
COSMIC
1g.230710334A>TCA345206466AGTc.490T>A (p.Ser164Thr)
n.1001T>A
c.517T>A (p.Ser173Thr)
1g.230710335G>ACA1448288AGTc.489C>T (p.Thr163=)
n.1000C>T
c.516C>T (p.Thr172=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710335G>CCA424036628AGTc.489C>G (p.Thr163=)
n.1000C>G
c.516C>G (p.Thr172=)
1g.230710335G=CA1226669698AGTc.489C= (p.Thr163=)
n.1000C=
c.516C= (p.Thr172=)
1g.230710335G>TCA424036629AGTc.489C>A (p.Thr163=)
n.1000C>A
c.516C>A (p.Thr172=)
1g.230710336G>ACA345206470AGTc.488C>T (p.Thr163Ile)
n.999C>T
c.515C>T (p.Thr172Ile)
dbSNP gnomAD v4
1g.230710336G>CCA345206471AGTc.488C>G (p.Thr163Ser)
n.999C>G
c.515C>G (p.Thr172Ser)
1g.230710336G=CA1226669699AGTc.488C= (p.Thr163=)
n.999C=
c.515C= (p.Thr172=)
1g.230710336G>TCA345206472AGTc.488C>A (p.Thr163Asn)
n.999C>A
c.515C>A (p.Thr172Asn)
dbSNP gnomAD v4
1g.230710337T>ACA345206473AGTc.487A>T (p.Thr163Ser)
n.998A>T
c.514A>T (p.Thr172Ser)
1g.230710337T>CCA345206476AGTc.487A>G (p.Thr163Ala)
n.998A>G
c.514A>G (p.Thr172Ala)
1g.230710337T>GCA345206475AGTc.487A>C (p.Thr163Pro)
n.998A>C
c.514A>C (p.Thr172Pro)
1g.230710338G>ACA424036634AGTc.486C>T (p.Cys162=)
n.997C>T
c.513C>T (p.Cys171=)
1g.230710338G>CCA345206478AGTc.486C>G (p.Cys162Trp)
n.997C>G
c.513C>G (p.Cys171Trp)
1g.230710338G=CA1226669700AGTc.486C= (p.Cys162=)
n.997C=
c.513C= (p.Cys171=)
1g.230710338G>TCA345206479AGTc.486C>A (p.Cys162Ter)
n.997C>A
c.513C>A (p.Cys171Ter)
1g.230710339C>ACA345206481AGTc.485G>T (p.Cys162Phe)
n.996G>T
c.512G>T (p.Cys171Phe)
1g.230710339C=CA1226669701AGTc.485G= (p.Cys162=)
n.996G=
c.512G= (p.Cys171=)
1g.230710339C>GCA345206483AGTc.485G>C (p.Cys162Ser)
n.996G>C
c.512G>C (p.Cys171Ser)
1g.230710339C>TCA345206485AGTc.485G>A (p.Cys162Tyr)
n.996G>A
c.512G>A (p.Cys171Tyr)
dbSNP gnomAD v2 gnomAD v4
1g.230710340_230710353dupCA891862742AGTc.472_485dup (p.Cys162Ter)
n.983_996dup
c.499_512dup (p.Cys171Ter)
ClinVar dbSNP
1g.230710340A>CCA345206486AGTc.484T>G (p.Cys162Gly)
n.995T>G
c.511T>G (p.Cys171Gly)
1g.230710340A>GCA345206487AGTc.484T>C (p.Cys162Arg)
n.995T>C
c.511T>C (p.Cys171Arg)
gnomAD v4
1g.230710340A>TCA345206488AGTc.484T>A (p.Cys162Ser)
n.995T>A
c.511T>A (p.Cys171Ser)
1g.230710341G>ACA424036638AGTc.483C>T (p.Asn161=)
n.994C>T
c.510C>T (p.Asn170=)
1g.230710341G>CCA345206490AGTc.483C>G (p.Asn161Lys)
n.994C>G
c.510C>G (p.Asn170Lys)
1g.230710341G>TCA345206492AGTc.483C>A (p.Asn161Lys)
n.994C>A
c.510C>A (p.Asn170Lys)
1g.230710342T>ACA345206494AGTc.482A>T (p.Asn161Ile)
n.993A>T
c.509A>T (p.Asn170Ile)
1g.230710342T>CCA345206495AGTc.482A>G (p.Asn161Ser)
n.993A>G
c.509A>G (p.Asn170Ser)
dbSNP gnomAD v2
1g.230710342T>GCA345206496AGTc.482A>C (p.Asn161Thr)
n.993A>C
c.509A>C (p.Asn170Thr)
1g.230710342T=CA1226669702AGTc.482A= (p.Asn161=)
n.993A=
c.509A= (p.Asn170=)
1g.230710343T>ACA345206500AGTc.481A>T (p.Asn161Tyr)
n.992A>T
c.508A>T (p.Asn170Tyr)
1g.230710343T>CCA38871743AGTc.481A>G (p.Asn161Asp)
n.992A>G
c.508A>G (p.Asn170Asp)
dbSNP gnomAD v3 gnomAD v4
1g.230710343T>GCA345206498AGTc.481A>C (p.Asn161His)
n.992A>C
c.508A>C (p.Asn170His)
1g.230710343T=CA1226669703AGTc.481A= (p.Asn161=)
n.992A=
c.508A= (p.Asn170=)
1g.230710344C>ACA345206503AGTc.480G>T (p.Lys160Asn)
n.991G>T
c.507G>T (p.Lys169Asn)
1g.230710344C>GCA345206502AGTc.480G>C (p.Lys160Asn)
n.991G>C
c.507G>C (p.Lys169Asn)
1g.230710344C>TCA424036644AGTc.480G>A (p.Lys160=)
n.991G>A
c.507G>A (p.Lys169=)
1g.230710345T>ACA345206507AGTc.479A>T (p.Lys160Met)
n.990A>T
c.506A>T (p.Lys169Met)
1g.230710345T>CCA345206505AGTc.479A>G (p.Lys160Arg)
n.990A>G
c.506A>G (p.Lys169Arg)
1g.230710345T>GCA345206509AGTc.479A>C (p.Lys160Thr)
n.990A>C
c.506A>C (p.Lys169Thr)
1g.230710346T>ACA345206510AGTc.478A>T (p.Lys160Ter)
n.989A>T
c.505A>T (p.Lys169Ter)
1g.230710346T>CCA345206513AGTc.478A>G (p.Lys160Glu)
n.989A>G
c.505A>G (p.Lys169Glu)
1g.230710346T>GCA345206511AGTc.478A>C (p.Lys160Gln)
n.989A>C
c.505A>C (p.Lys169Gln)
1g.230710347G>ACA424036656AGTc.477C>T (p.Asp159=)
n.988C>T
c.504C>T (p.Asp168=)
dbSNP
1g.230710347G>CCA345206515AGTc.477C>G (p.Asp159Glu)
n.988C>G
c.504C>G (p.Asp168Glu)
1g.230710347G=CA1144871954AGTc.477C= (p.Asp159=)
n.988C=
c.504C= (p.Asp168=)
1g.230710347G>TCA1448289AGTc.477C>A (p.Asp159Glu)
n.988C>A
c.504C>A (p.Asp168Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710348T>ACA345206517AGTc.476A>T (p.Asp159Val)
n.987A>T
c.503A>T (p.Asp168Val)
gnomAD v4
1g.230710348T>CCA345206518AGTc.476A>G (p.Asp159Gly)
n.987A>G
c.503A>G (p.Asp168Gly)
dbSNP gnomAD v4
1g.230710348T>GCA345206520AGTc.476A>C (p.Asp159Ala)
n.987A>C
c.503A>C (p.Asp168Ala)
1g.230710348T=CA1226669704AGTc.476A= (p.Asp159=)
n.987A=
c.503A= (p.Asp168=)
1g.230710349C>ACA1448290AGTc.475G>T (p.Asp159Tyr)
n.986G>T
c.502G>T (p.Asp168Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710349C=CA1226669705AGTc.475G= (p.Asp159=)
n.986G=
c.502G= (p.Asp168=)
1g.230710349C>GCA345206522AGTc.475G>C (p.Asp159His)
n.986G>C
c.502G>C (p.Asp168His)
1g.230710349C>TCA345206524AGTc.475G>A (p.Asp159Asn)
n.986G>A
c.502G>A (p.Asp168Asn)
1g.230710350C>ACA345206526AGTc.474G>T (p.Lys158Asn)
n.985G>T
c.501G>T (p.Lys167Asn)
1g.230710350C>GCA345206528AGTc.474G>C (p.Lys158Asn)
n.985G>C
c.501G>C (p.Lys167Asn)
1g.230710350C>TCA424036659AGTc.474G>A (p.Lys158=)
n.985G>A
c.501G>A (p.Lys167=)
1g.230710351T>ACA345206530AGTc.473A>T (p.Lys158Met)
n.984A>T
c.500A>T (p.Lys167Met)
1g.230710351T>CCA345206531AGTc.473A>G (p.Lys158Arg)
n.984A>G
c.500A>G (p.Lys167Arg)
1g.230710351T>GCA345206532AGTc.473A>C (p.Lys158Thr)
n.984A>C
c.500A>C (p.Lys167Thr)
1g.230710352T>ACA345206536AGTc.472A>T (p.Lys158Ter)
n.983A>T
c.499A>T (p.Lys167Ter)
1g.230710352T>CCA345206535AGTc.472A>G (p.Lys158Glu)
n.983A>G
c.499A>G (p.Lys167Glu)
1g.230710352T>GCA345206534AGTc.472A>C (p.Lys158Gln)
n.983A>C
c.499A>C (p.Lys167Gln)
1g.230710353C>ACA345206538AGTc.471G>T (p.Trp157Cys)
n.982G>T
c.498G>T (p.Trp166Cys)
1g.230710353C>GCA345206539AGTc.471G>C (p.Trp157Cys)
n.982G>C
c.498G>C (p.Trp166Cys)
1g.230710353C>TCA345206540AGTc.471G>A (p.Trp157Ter)
n.982G>A
c.498G>A (p.Trp166Ter)
1g.230710354C>ACA345206542AGTc.470G>T (p.Trp157Leu)
n.981G>T
c.497G>T (p.Trp166Leu)
1g.230710354C>GCA345206543AGTc.470G>C (p.Trp157Ser)
n.981G>C
c.497G>C (p.Trp166Ser)
1g.230710354C>TCA345206545AGTc.470G>A (p.Trp157Ter)
n.981G>A
c.497G>A (p.Trp166Ter)
1g.230710355A>CCA345206546AGTc.469T>G (p.Trp157Gly)
n.980T>G
c.496T>G (p.Trp166Gly)
1g.230710355A>GCA345206548AGTc.469T>C (p.Trp157Arg)
n.980T>C
c.496T>C (p.Trp166Arg)
1g.230710355A>TCA345206549AGTc.469T>A (p.Trp157Arg)
n.980T>A
c.496T>A (p.Trp166Arg)
1g.230710356A>CCA424036670AGTc.468T>G (p.Pro156=)
n.979T>G
c.495T>G (p.Pro165=)
1g.230710356A>GCA424036671AGTc.468T>C (p.Pro156=)
n.979T>C
c.495T>C (p.Pro165=)
1g.230710356A>TCA424036672AGTc.468T>A (p.Pro156=)
n.979T>A
c.495T>A (p.Pro165=)
1g.230710357G>ACA345206550AGTc.467C>T (p.Pro156Leu)
n.978C>T
c.494C>T (p.Pro165Leu)
1g.230710357G>CCA345206551AGTc.467C>G (p.Pro156Arg)
n.978C>G
c.494C>G (p.Pro165Arg)
1g.230710357G>TCA345206553AGTc.467C>A (p.Pro156His)
n.978C>A
c.494C>A (p.Pro165His)
1g.230710358G>ACA345206558AGTc.466C>T (p.Pro156Ser)
n.977C>T
c.493C>T (p.Pro165Ser)
1g.230710358G>CCA345206557AGTc.466C>G (p.Pro156Ala)
n.977C>G
c.493C>G (p.Pro165Ala)
1g.230710358G>TCA345206555AGTc.466C>A (p.Pro156Thr)
n.977C>A
c.493C>A (p.Pro165Thr)
1g.230710359A>CCA424036681AGTc.465T>G (p.Val155=)
n.976T>G
c.492T>G (p.Val164=)
1g.230710359A>GCA424036683AGTc.465T>C (p.Val155=)
n.976T>C
c.492T>C (p.Val164=)
1g.230710359A>TCA424036684AGTc.465T>A (p.Val155=)
n.976T>A
c.492T>A (p.Val164=)
1g.230710360A>CCA345206560AGTc.464T>G (p.Val155Gly)
n.975T>G
c.491T>G (p.Val164Gly)
1g.230710360A>GCA345206561AGTc.464T>C (p.Val155Ala)
n.975T>C
c.491T>C (p.Val164Ala)
1g.230710360A>TCA345206562AGTc.464T>A (p.Val155Asp)
n.975T>A
c.491T>A (p.Val164Asp)
1g.230710361C>ACA345206564AGTc.463G>T (p.Val155Phe)
n.974G>T
c.490G>T (p.Val164Phe)
1g.230710361C=CA1226669706AGTc.463G= (p.Val155=)
n.974G=
c.490G= (p.Val164=)
1g.230710361C>GCA345206565AGTc.463G>C (p.Val155Leu)
n.974G>C
c.490G>C (p.Val164Leu)
1g.230710361C>TCA1448291AGTc.463G>A (p.Val155Ile)
n.974G>A
c.490G>A (p.Val164Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710362A=CA1226669707AGTc.462T= (p.Gly154=)
n.973T=
c.489T= (p.Gly163=)
1g.230710362A>CCA424036690AGTc.462T>G (p.Gly154=)
n.973T>G
c.489T>G (p.Gly163=)
dbSNP gnomAD v4
1g.230710362A>GCA424036691AGTc.462T>C (p.Gly154=)
n.973T>C
c.489T>C (p.Gly163=)
1g.230710362A>TCA424036692AGTc.462T>A (p.Gly154=)
n.973T>A
c.489T>A (p.Gly163=)
1g.230710363C>ACA345206568AGTc.461G>T (p.Gly154Val)
n.972G>T
c.488G>T (p.Gly163Val)
1g.230710363C>GCA345206569AGTc.461G>C (p.Gly154Ala)
n.972G>C
c.488G>C (p.Gly163Ala)
1g.230710363C>TCA345206570AGTc.461G>A (p.Gly154Asp)
n.972G>A
c.488G>A (p.Gly163Asp)
1g.230710364C>ACA345206572AGTc.460G>T (p.Gly154Cys)
n.971G>T
c.487G>T (p.Gly163Cys)
1g.230710364C>GCA345206574AGTc.460G>C (p.Gly154Arg)
n.971G>C
c.487G>C (p.Gly163Arg)
1g.230710364C>TCA345206575AGTc.460G>A (p.Gly154Ser)
n.971G>A
c.487G>A (p.Gly163Ser)
gnomAD v4
1g.230710365C>ACA424036700AGTc.459G>T (p.Leu153=)
n.970G>T
c.486G>T (p.Leu162=)
1g.230710365C>GCA424036702AGTc.459G>C (p.Leu153=)
n.970G>C
c.486G>C (p.Leu162=)
1g.230710365C>TCA424036704AGTc.459G>A (p.Leu153=)
n.970G>A
c.486G>A (p.Leu162=)
1g.230710366A=CA1226669708AGTc.458T= (p.Leu153=)
n.969T=
c.485T= (p.Leu162=)
1g.230710366A>CCA345206579AGTc.458T>G (p.Leu153Arg)
n.969T>G
c.485T>G (p.Leu162Arg)
1g.230710366A>GCA345206578AGTc.458T>C (p.Leu153Pro)
n.969T>C
c.485T>C (p.Leu162Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.230710366A>TCA345206577AGTc.458T>A (p.Leu153Gln)
n.969T>A
c.485T>A (p.Leu162Gln)
1g.230710367G>ACA424036707AGTc.457C>T (p.Leu153=)
n.968C>T
c.484C>T (p.Leu162=)
1g.230710367G>CCA345206581AGTc.457C>G (p.Leu153Val)
n.968C>G
c.484C>G (p.Leu162Val)
dbSNP
1g.230710367G=CA1226669709AGTc.457C= (p.Leu153=)
n.968C=
c.484C= (p.Leu162=)
1g.230710367G>TCA345206583AGTc.457C>A (p.Leu153Met)
n.968C>A
c.484C>A (p.Leu162Met)
1g.230710368G>ACA424036711AGTc.456C>T (p.Ile152=)
n.967C>T
c.483C>T (p.Ile161=)
gnomAD v4 COSMIC
1g.230710368G>CCA345206585AGTc.456C>G (p.Ile152Met)
n.967C>G
c.483C>G (p.Ile161Met)
1g.230710368G>TCA424036710AGTc.456C>A (p.Ile152=)
n.967C>A
c.483C>A (p.Ile161=)
1g.230710369A>CCA345206586AGTc.455T>G (p.Ile152Ser)
n.966T>G
c.482T>G (p.Ile161Ser)
1g.230710369A>GCA345206588AGTc.455T>C (p.Ile152Thr)
n.966T>C
c.482T>C (p.Ile161Thr)
1g.230710369A>TCA345206589AGTc.455T>A (p.Ile152Asn)
n.966T>A
c.482T>A (p.Ile161Asn)
1g.230710369_230710370delCA2650971414AGTc.454_455del (p.Ile152ProfsTer?)
n.965_966del
c.481_482del (p.Ile161ProfsTer?)
gnomAD v4
1g.230710370T>ACA345206591AGTc.454A>T (p.Ile152Phe)
n.965A>T
c.481A>T (p.Ile161Phe)
1g.230710370T>CCA1448292AGTc.454A>G (p.Ile152Val)
n.965A>G
c.481A>G (p.Ile161Val)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710370T>GCA345206593AGTc.454A>C (p.Ile152Leu)
n.965A>C
c.481A>C (p.Ile161Leu)
1g.230710370T=CA1226669710AGTc.454A= (p.Ile152=)
n.965A=
c.481A= (p.Ile161=)
1g.230710371T>ACA424036723AGTc.453A>T (p.Ala151=)
n.964A>T
c.480A>T (p.Ala160=)
1g.230710371T>CCA424036716AGTc.453A>G (p.Ala151=)
n.964A>G
c.480A>G (p.Ala160=)
1g.230710371T>GCA424036719AGTc.453A>C (p.Ala151=)
n.964A>C
c.480A>C (p.Ala160=)
1g.230710372G>ACA345206595AGTc.452C>T (p.Ala151Val)
n.963C>T
c.479C>T (p.Ala160Val)
1g.230710372G>CCA345206597AGTc.452C>G (p.Ala151Gly)
n.963C>G
c.479C>G (p.Ala160Gly)
1g.230710372G>TCA345206598AGTc.452C>A (p.Ala151Glu)
n.963C>A
c.479C>A (p.Ala160Glu)
1g.230710373C>ACA345206603AGTc.451G>T (p.Ala151Ser)
n.962G>T
c.478G>T (p.Ala160Ser)
1g.230710373C>GCA345206601AGTc.451G>C (p.Ala151Pro)
n.962G>C
c.478G>C (p.Ala160Pro)
1g.230710373C>TCA345206600AGTc.451G>A (p.Ala151Thr)
n.962G>A
c.478G>A (p.Ala160Thr)
COSMIC
1g.230710374C>ACA345206604AGTc.450G>T (p.Gln150His)
n.961G>T
c.477G>T (p.Gln159His)
1g.230710374C=CA1226669711AGTc.450G= (p.Gln150=)
n.961G=
c.477G= (p.Gln159=)
1g.230710374C>GCA345206605AGTc.450G>C (p.Gln150His)
n.961G>C
c.477G>C (p.Gln159His)
1g.230710374C>TCA424036728AGTc.450G>A (p.Gln150=)
n.961G>A
c.477G>A (p.Gln159=)
dbSNP
1g.230710375T>ACA345206607AGTc.449A>T (p.Gln150Leu)
n.960A>T
c.476A>T (p.Gln159Leu)
1g.230710375T>CCA345206608AGTc.449A>G (p.Gln150Arg)
n.960A>G
c.476A>G (p.Gln159Arg)
dbSNP
1g.230710375T>GCA345206610AGTc.449A>C (p.Gln150Pro)
n.960A>C
c.476A>C (p.Gln159Pro)
1g.230710375T=CA1226669712AGTc.449A= (p.Gln150=)
n.960A=
c.476A= (p.Gln159=)
1g.230710376G>ACA345206612AGTc.448C>T (p.Gln150Ter)
n.959C>T
c.475C>T (p.Gln159Ter)
dbSNP gnomAD v4
1g.230710376G>CCA345206614AGTc.448C>G (p.Gln150Glu)
n.959C>G
c.475C>G (p.Gln159Glu)
1g.230710376G=CA1226669713AGTc.448C= (p.Gln150=)
n.959C=
c.475C= (p.Gln159=)
1g.230710376G>TCA345206615AGTc.448C>A (p.Gln150Lys)
n.959C>A
c.475C>A (p.Gln159Lys)
1g.230710377T>ACA424036737AGTc.447A>T (p.Leu149=)
n.958A>T
c.474A>T (p.Leu158=)
1g.230710377T>CCA424036738AGTc.447A>G (p.Leu149=)
n.958A>G
c.474A>G (p.Leu158=)
dbSNP gnomAD v4
1g.230710377T>GCA424036739AGTc.447A>C (p.Leu149=)
n.958A>C
c.474A>C (p.Leu158=)
1g.230710377T=CA1226669714AGTc.447A= (p.Leu149=)
n.958A=
c.474A= (p.Leu158=)
1g.230710378A>CCA345206616AGTc.446T>G (p.Leu149Arg)
n.957T>G
c.473T>G (p.Leu158Arg)
1g.230710378A>GCA345206618AGTc.446T>C (p.Leu149Pro)
n.957T>C
c.473T>C (p.Leu158Pro)
1g.230710378A>TCA345206620AGTc.446T>A (p.Leu149Gln)
n.957T>A
c.473T>A (p.Leu158Gln)
1g.230710379G>ACA424036744AGTc.445C>T (p.Leu149=)
n.956C>T
c.472C>T (p.Leu158=)
1g.230710379G>CCA345206621AGTc.445C>G (p.Leu149Val)
n.956C>G
c.472C>G (p.Leu158Val)
1g.230710379G>TCA345206623AGTc.445C>A (p.Leu149Ile)
n.956C>A
c.472C>A (p.Leu158Ile)
1g.230710380C>ACA345206624AGTc.444G>T (p.Arg148Ser)
n.955G>T
c.471G>T (p.Arg157Ser)
1g.230710380C>GCA345206626AGTc.444G>C (p.Arg148Ser)
n.955G>C
c.471G>C (p.Arg157Ser)
1g.230710380C>TCA424036750AGTc.444G>A (p.Arg148=)
n.955G>A
c.471G>A (p.Arg157=)
1g.230710381C>ACA345206628AGTc.443G>T (p.Arg148Met)
n.954G>T
c.470G>T (p.Arg157Met)
1g.230710381C=CA1226669715AGTc.443G= (p.Arg148=)
n.954G=
c.470G= (p.Arg157=)
1g.230710381C>GCA345206630AGTc.443G>C (p.Arg148Thr)
n.954G>C
c.470G>C (p.Arg157Thr)
1g.230710381C>TCA345206629AGTc.443G>A (p.Arg148Lys)
n.954G>A
c.470G>A (p.Arg157Lys)
dbSNP gnomAD v2 gnomAD v4
1g.230710382T>ACA345206631AGTc.442A>T (p.Arg148Trp)
n.953A>T
c.469A>T (p.Arg157Trp)
1g.230710382T>CCA345206633AGTc.442A>G (p.Arg148Gly)
n.953A>G
c.469A>G (p.Arg157Gly)
1g.230710382T>GCA424036755AGTc.442A>C (p.Arg148=)
n.953A>C
c.469A>C (p.Arg157=)
gnomAD v4
1g.230710383G>ACA424036758AGTc.441C>T (p.Asp147=)
n.952C>T
c.468C>T (p.Asp156=)
1g.230710383G>CCA345206635AGTc.441C>G (p.Asp147Glu)
n.952C>G
c.468C>G (p.Asp156Glu)
1g.230710383G=CA1226669716AGTc.441C= (p.Asp147=)
n.952C=
c.468C= (p.Asp156=)
1g.230710383G>TCA345206637AGTc.441C>A (p.Asp147Glu)
n.952C>A
c.468C>A (p.Asp156Glu)
dbSNP gnomAD v3 gnomAD v4
1g.230710384T>ACA345206638AGTc.440A>T (p.Asp147Val)
n.951A>T
c.467A>T (p.Asp156Val)
1g.230710384T>CCA1448293AGTc.440A>G (p.Asp147Gly)
n.951A>G
c.467A>G (p.Asp156Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710384T>GCA345206640AGTc.440A>C (p.Asp147Ala)
n.951A>C
c.467A>C (p.Asp156Ala)
1g.230710384T=CA1140727498AGTc.440A= (p.Asp147=)
n.951A=
c.467A= (p.Asp156=)
1g.230710385C>ACA345206641AGTc.439G>T (p.Asp147Tyr)
n.950G>T
c.466G>T (p.Asp156Tyr)
1g.230710385C>GCA345206643AGTc.439G>C (p.Asp147His)
n.950G>C
c.466G>C (p.Asp156His)
gnomAD v4 COSMIC
1g.230710385C>TCA345206644AGTc.439G>A (p.Asp147Asn)
n.950G>A
c.466G>A (p.Asp156Asn)
COSMIC
1g.230710386A>CCA424036760AGTc.438T>G (p.Ala146=)
n.949T>G
c.465T>G (p.Ala155=)
1g.230710386A>GCA424036761AGTc.438T>C (p.Ala146=)
n.949T>C
c.465T>C (p.Ala155=)
1g.230710386A>TCA424036762AGTc.438T>A (p.Ala146=)
n.949T>A
c.465T>A (p.Ala155=)
1g.230710387G>ACA1448294AGTc.437C>T (p.Ala146Val)
n.948C>T
c.464C>T (p.Ala155Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710387G>CCA345206648AGTc.437C>G (p.Ala146Gly)
n.948C>G
c.464C>G (p.Ala155Gly)
1g.230710387G=CA1141929753AGTc.437C= (p.Ala146=)
n.948C=
c.464C= (p.Ala155=)
1g.230710387G>TCA345206645AGTc.437C>A (p.Ala146Asp)
n.948C>A
c.464C>A (p.Ala155Asp)
1g.230710388C>ACA345206650AGTc.436G>T (p.Ala146Ser)
n.947G>T
c.463G>T (p.Ala155Ser)
1g.230710388C=CA1226669717AGTc.436G= (p.Ala146=)
n.947G=
c.463G= (p.Ala155=)
1g.230710388C>GCA345206651AGTc.436G>C (p.Ala146Pro)
n.947G>C
c.463G>C (p.Ala155Pro)
1g.230710388C>TCA345206653AGTc.436G>A (p.Ala146Thr)
n.947G>A
c.463G>A (p.Ala155Thr)
dbSNP gnomAD v2 gnomAD v4
1g.230710389T>ACA424036764AGTc.435A>T (p.Thr145=)
n.946A>T
c.462A>T (p.Thr154=)
1g.230710389T>CCA424036765AGTc.435A>G (p.Thr145=)
n.946A>G
c.462A>G (p.Thr154=)
1g.230710389T>GCA424036766AGTc.435A>C (p.Thr145=)
n.946A>C
c.462A>C (p.Thr154=)
1g.230710393_230710394delCA2574015666AGTc.434_435del (p.Thr145SerfsTer2)
n.945_946del
c.461_462del (p.Thr154SerfsTer2)
1g.230710390G>ACA1448295AGTc.434C>T (p.Thr145Ile)
n.945C>T
c.461C>T (p.Thr154Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710390G>CCA345206655AGTc.434C>G (p.Thr145Arg)
n.945C>G
c.461C>G (p.Thr154Arg)
1g.230710390G=CA1226669718AGTc.434C= (p.Thr145=)
n.945C=
c.461C= (p.Thr154=)
1g.230710390G>TCA345206656AGTc.434C>A (p.Thr145Lys)
n.945C>A
c.461C>A (p.Thr154Lys)
1g.230710391T>ACA345206659AGTc.433A>T (p.Thr145Ser)
n.944A>T
c.460A>T (p.Thr154Ser)
1g.230710391T>CCA345206657AGTc.433A>G (p.Thr145Ala)
n.944A>G
c.460A>G (p.Thr154Ala)
dbSNP
1g.230710391T>GCA345206658AGTc.433A>C (p.Thr145Pro)
n.944A>C
c.460A>C (p.Thr154Pro)
gnomAD v4
1g.230710391T=CA1226669719AGTc.433A= (p.Thr145=)
n.944A=
c.460A= (p.Thr154=)
1g.230710392G>ACA424036769AGTc.432C>T (p.His144=)
n.943C>T
c.459C>T (p.His153=)
dbSNP gnomAD v2 gnomAD v4
1g.230710392G>CCA345206660AGTc.432C>G (p.His144Gln)
n.943C>G
c.459C>G (p.His153Gln)
1g.230710392G=CA1226669720AGTc.432C= (p.His144=)
n.943C=
c.459C= (p.His153=)
1g.230710392G>TCA345206661AGTc.432C>A (p.His144Gln)
n.943C>A
c.459C>A (p.His153Gln)
1g.230710393T>ACA345206662AGTc.431A>T (p.His144Leu)
n.942A>T
c.458A>T (p.His153Leu)
1g.230710393T>CCA345206663AGTc.431A>G (p.His144Arg)
n.942A>G
c.458A>G (p.His153Arg)
dbSNP gnomAD v2 gnomAD v4
1g.230710393T>GCA345206664AGTc.431A>C (p.His144Pro)
n.942A>C
c.458A>C (p.His153Pro)
1g.230710393T=CA1226669721AGTc.431A= (p.His144=)
n.942A=
c.458A= (p.His153=)
1g.230710394G>ACA345206665AGTc.430C>T (p.His144Tyr)
n.941C>T
c.457C>T (p.His153Tyr)
dbSNP gnomAD v3 gnomAD v4
1g.230710394G>CCA345206667AGTc.430C>G (p.His144Asp)
n.941C>G
c.457C>G (p.His153Asp)
gnomAD v4
1g.230710394G=CA1226669722AGTc.430C= (p.His144=)
n.941C=
c.457C= (p.His153=)
1g.230710394G>TCA345206666AGTc.430C>A (p.His144Asn)
n.941C>A
c.457C>A (p.His153Asn)
1g.230710395G>ACA424036771AGTc.429C>T (p.Asp143=)
n.940C>T
c.456C>T (p.Asp152=)
1g.230710395G>CCA345206668AGTc.429C>G (p.Asp143Glu)
n.940C>G
c.456C>G (p.Asp152Glu)
1g.230710395G>TCA345206669AGTc.429C>A (p.Asp143Glu)
n.940C>A
c.456C>A (p.Asp152Glu)
1g.230710396T>ACA345206670AGTc.428A>T (p.Asp143Val)
n.939A>T
c.455A>T (p.Asp152Val)
1g.230710396T>CCA345206671AGTc.428A>G (p.Asp143Gly)
n.939A>G
c.455A>G (p.Asp152Gly)
1g.230710396T>GCA345206672AGTc.428A>C (p.Asp143Ala)
n.939A>C
c.455A>C (p.Asp152Ala)
1g.230710397C>ACA345206673AGTc.427G>T (p.Asp143Tyr)
n.938G>T
c.454G>T (p.Asp152Tyr)
1g.230710397C>GCA345206674AGTc.427G>C (p.Asp143His)
n.938G>C
c.454G>C (p.Asp152His)
1g.230710397C>TCA345206675AGTc.427G>A (p.Asp143Asn)
n.938G>A
c.454G>A (p.Asp152Asn)
1g.230710398C>ACA345206676AGTc.426G>T (p.Leu142Phe)
n.937G>T
c.453G>T (p.Leu151Phe)
1g.230710398C=CA1226669723AGTc.426G= (p.Leu142=)
n.937G=
c.453G= (p.Leu151=)
1g.230710398C>GCA345206677AGTc.426G>C (p.Leu142Phe)
n.937G>C
c.453G>C (p.Leu151Phe)
dbSNP gnomAD v2 gnomAD v4
1g.230710398C>TCA424036774AGTc.426G>A (p.Leu142=)
n.937G>A
c.453G>A (p.Leu151=)
1g.230710399A=CA1142347657AGTc.425T= (p.Leu142=)
n.936T=
c.452T= (p.Leu151=)
1g.230710399A>CCA1448296AGTc.425T>G (p.Leu142Trp)
n.936T>G
c.452T>G (p.Leu151Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710399A>GCA1448297AGTc.425T>C (p.Leu142Ser)
n.936T>C
c.452T>C (p.Leu151Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710399A>TCA345206678AGTc.425T>A (p.Leu142Ter)
n.936T>A
c.452T>A (p.Leu151Ter)
1g.230710400A>CCA345206679AGTc.424T>G (p.Leu142Val)
n.935T>G
c.451T>G (p.Leu151Val)
1g.230710400A>GCA424036778AGTc.424T>C (p.Leu142=)
n.935T>C
c.451T>C (p.Leu151=)
1g.230710400A>TCA345206680AGTc.424T>A (p.Leu142Met)
n.935T>A
c.451T>A (p.Leu151Met)
1g.230710401G>ACA424036782AGTc.423C>T (p.Ala141=)
n.934C>T
c.450C>T (p.Ala150=)
dbSNP gnomAD v2 gnomAD v4
1g.230710401G>CCA424036784AGTc.423C>G (p.Ala141=)
n.934C>G
c.450C>G (p.Ala150=)
1g.230710401G=CA1226669724AGTc.423C= (p.Ala141=)
n.934C=
c.450C= (p.Ala150=)
1g.230710401G>TCA424036783AGTc.423C>A (p.Ala141=)
n.934C>A
c.450C>A (p.Ala150=)
1g.230710402G>ACA345206681AGTc.422C>T (p.Ala141Val)
n.933C>T
c.449C>T (p.Ala150Val)
dbSNP gnomAD v2 gnomAD v4
1g.230710402G>CCA345206683AGTc.422C>G (p.Ala141Gly)
n.933C>G
c.449C>G (p.Ala150Gly)
1g.230710402G=CA1226669725AGTc.422C= (p.Ala141=)
n.933C=
c.449C= (p.Ala150=)
1g.230710402G>TCA345206682AGTc.422C>A (p.Ala141Asp)
n.933C>A
c.449C>A (p.Ala150Asp)
1g.230710403C>ACA345206684AGTc.421G>T (p.Ala141Ser)
n.932G>T
c.448G>T (p.Ala150Ser)
1g.230710403C=CA1148873303AGTc.421G= (p.Ala141=)
n.932G=
c.448G= (p.Ala150=)
1g.230710403C>GCA345206685AGTc.421G>C (p.Ala141Pro)
n.932G>C
c.448G>C (p.Ala150Pro)
1g.230710403C>TCA1448298AGTc.421G>A (p.Ala141Thr)
n.932G>A
c.448G>A (p.Ala150Thr)
dbSNP ExAC
1g.230710404T>ACA424036788AGTc.420A>T (p.Gly140=)
n.931A>T
c.447A>T (p.Gly149=)
1g.230710404T>CCA424036789AGTc.420A>G (p.Gly140=)
n.931A>G
c.447A>G (p.Gly149=)
1g.230710404T>GCA424036790AGTc.420A>C (p.Gly140=)
n.931A>C
c.447A>C (p.Gly149=)
1g.230710405C>ACA345206686AGTc.419G>T (p.Gly140Val)
n.930G>T
c.446G>T (p.Gly149Val)
1g.230710405C=CA1226669726AGTc.419G= (p.Gly140=)
n.930G=
c.446G= (p.Gly149=)
1g.230710405C>GCA345206687AGTc.419G>C (p.Gly140Ala)
n.930G>C
c.446G>C (p.Gly149Ala)
gnomAD v4
1g.230710405C>TCA345206688AGTc.419G>A (p.Gly140Glu)
n.930G>A
c.446G>A (p.Gly149Glu)
dbSNP gnomAD v3 gnomAD v4
1g.230710406C>ACA345206689AGTc.418G>T (p.Gly140Ter)
n.929G>T
c.445G>T (p.Gly149Ter)
1g.230710406C=CA1226669727AGTc.418G= (p.Gly140=)
n.929G=
c.445G= (p.Gly149=)
1g.230710406C>GCA345206690AGTc.418G>C (p.Gly140Arg)
n.929G>C
c.445G>C (p.Gly149Arg)
1g.230710406C>TCA345206691AGTc.418G>A (p.Gly140Arg)
n.929G>A
c.445G>A (p.Gly149Arg)
dbSNP gnomAD v3 gnomAD v4
1g.230710407C>ACA424036792AGTc.417G>T (p.Leu139=)
n.928G>T
c.444G>T (p.Leu148=)
1g.230710407C>GCA424036794AGTc.417G>C (p.Leu139=)
n.928G>C
c.444G>C (p.Leu148=)
1g.230710407C>TCA424036796AGTc.417G>A (p.Leu139=)
n.928G>A
c.444G>A (p.Leu148=)
gnomAD v4
1g.230710408A>CCA345206692AGTc.416T>G (p.Leu139Arg)
n.927T>G
c.443T>G (p.Leu148Arg)
1g.230710408A>GCA345206693AGTc.416T>C (p.Leu139Pro)
n.927T>C
c.443T>C (p.Leu148Pro)
1g.230710408A>TCA345206694AGTc.416T>A (p.Leu139Gln)
n.927T>A
c.443T>A (p.Leu148Gln)
1g.230710409G>ACA424036798AGTc.415C>T (p.Leu139=)
n.926C>T
c.442C>T (p.Leu148=)
1g.230710409G>CCA345206695AGTc.415C>G (p.Leu139Val)
n.926C>G
c.442C>G (p.Leu148Val)
dbSNP gnomAD v2 gnomAD v4
1g.230710409G=CA1226669728AGTc.415C= (p.Leu139=)
n.926C=
c.442C= (p.Leu148=)
1g.230710409G>TCA345206696AGTc.415C>A (p.Leu139Met)
n.926C>A
c.442C>A (p.Leu148Met)
1g.230710410A=CA1226669729AGTc.414T= (p.Tyr138=)
n.925T=
c.441T= (p.Tyr147=)
1g.230710410A>CCA345206698AGTc.414T>G (p.Tyr138Ter)
n.925T>G
c.441T>G (p.Tyr147Ter)
1g.230710410A>GCA38871797AGTc.414T>C (p.Tyr138=)
n.925T>C
c.441T>C (p.Tyr147=)
dbSNP
1g.230710410A>TCA345206697AGTc.414T>A (p.Tyr138Ter)
n.925T>A
c.441T>A (p.Tyr147Ter)
1g.230710411T>ACA345206699AGTc.413A>T (p.Tyr138Phe)
n.924A>T
c.440A>T (p.Tyr147Phe)
1g.230710411T>CCA1448299AGTc.413A>G (p.Tyr138Cys)
n.924A>G
c.440A>G (p.Tyr147Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710411T>GCA345206700AGTc.413A>C (p.Tyr138Ser)
n.924A>C
c.440A>C (p.Tyr147Ser)
1g.230710411T=CA1146400865AGTc.413A= (p.Tyr138=)
n.924A=
c.440A= (p.Tyr147=)
1g.230710411_230710415delinsTAGAGCA1226669730AGTc.409_413delinsCTCTA (p.Leu137=)
n.920_924delinsCTCTA
c.436_440delinsCTCTA (p.Leu146=)
1g.230710412A>CCA345206701AGTc.412T>G (p.Tyr138Asp)
n.923T>G
c.439T>G (p.Tyr147Asp)
1g.230710412A>GCA345206702AGTc.412T>C (p.Tyr138His)
n.923T>C
c.439T>C (p.Tyr147His)
1g.230710412A>TCA345206703AGTc.412T>A (p.Tyr138Asn)
n.923T>A
c.439T>A (p.Tyr147Asn)
1g.230710416_230710419delCA1226669731AGTc.409_412del (p.Leu137IlefsTer?)
n.920_923del
c.436_439del (p.Leu146IlefsTer?)
dbSNP
1g.230710413G>ACA1448300AGTc.411C>T (p.Leu137=)
n.922C>T
c.438C>T (p.Leu146=)
dbSNP ExAC
1g.230710413G>CCA424036804AGTc.411C>G (p.Leu137=)
n.922C>G
c.438C>G (p.Leu146=)
1g.230710413G=CA1226669732AGTc.411C= (p.Leu137=)
n.922C=
c.438C= (p.Leu146=)
1g.230710413G>TCA424036802AGTc.411C>A (p.Leu137=)
n.922C>A
c.438C>A (p.Leu146=)
1g.230710414A>CCA345206704AGTc.410T>G (p.Leu137Arg)
n.921T>G
c.437T>G (p.Leu146Arg)
1g.230710414A>GCA345206705AGTc.410T>C (p.Leu137Pro)
n.921T>C
c.437T>C (p.Leu146Pro)
1g.230710414A>TCA345206706AGTc.410T>A (p.Leu137His)
n.921T>A
c.437T>A (p.Leu146His)
1g.230710415G>ACA345206708AGTc.409C>T (p.Leu137Phe)
n.920C>T
c.436C>T (p.Leu146Phe)
gnomAD v4
1g.230710415G>CCA345206709AGTc.409C>G (p.Leu137Val)
n.920C>G
c.436C>G (p.Leu146Val)
1g.230710415G>TCA345206707AGTc.409C>A (p.Leu137Ile)
n.920C>A
c.436C>A (p.Leu146Ile)
1g.230710416A>CCA424036806AGTc.408T>G (p.Ser136=)
n.919T>G
c.435T>G (p.Ser145=)
1g.230710416A>GCA424036807AGTc.408T>C (p.Ser136=)
n.919T>C
c.435T>C (p.Ser145=)
1g.230710416A>TCA424036808AGTc.408T>A (p.Ser136=)
n.919T>A
c.435T>A (p.Ser145=)
1g.230710417G>ACA345206710AGTc.407C>T (p.Ser136Phe)
n.918C>T
c.434C>T (p.Ser145Phe)
gnomAD v4
1g.230710417G>CCA345206711AGTc.407C>G (p.Ser136Cys)
n.918C>G
c.434C>G (p.Ser145Cys)
1g.230710417G>TCA345206712AGTc.407C>A (p.Ser136Tyr)
n.918C>A
c.434C>A (p.Ser145Tyr)
1g.230710418A>CCA345206713AGTc.406T>G (p.Ser136Ala)
n.917T>G
c.433T>G (p.Ser145Ala)
1g.230710418A>GCA345206714AGTc.406T>C (p.Ser136Pro)
n.917T>C
c.433T>C (p.Ser145Pro)
1g.230710418A>TCA345206715AGTc.406T>A (p.Ser136Thr)
n.917T>A
c.433T>A (p.Ser145Thr)
1g.230710419G>ACA424036814AGTc.405C>T (p.Ala135=)
n.916C>T
c.432C>T (p.Ala144=)
dbSNP gnomAD v2 gnomAD v4
1g.230710419G>CCA424036816AGTc.405C>G (p.Ala135=)
n.916C>G
c.432C>G (p.Ala144=)
1g.230710419G=CA1226669733AGTc.405C= (p.Ala135=)
n.916C=
c.432C= (p.Ala144=)
1g.230710419G>TCA424036818AGTc.405C>A (p.Ala135=)
n.916C>A
c.432C>A (p.Ala144=)
1g.230710420G>ACA345206716AGTc.404C>T (p.Ala135Val)
n.915C>T
c.431C>T (p.Ala144Val)
1g.230710420G>CCA345206717AGTc.404C>G (p.Ala135Gly)
n.915C>G
c.431C>G (p.Ala144Gly)
1g.230710420G>TCA345206718AGTc.404C>A (p.Ala135Asp)
n.915C>A
c.431C>A (p.Ala144Asp)
1g.230710421C>ACA345206719AGTc.403G>T (p.Ala135Ser)
n.914G>T
c.430G>T (p.Ala144Ser)
1g.230710421C=CA1141631937AGTc.403G= (p.Ala135=)
n.914G=
c.430G= (p.Ala144=)
1g.230710421C>GCA345206720AGTc.403G>C (p.Ala135Pro)
n.914G>C
c.430G>C (p.Ala144Pro)
1g.230710421C>TCA1448301AGTc.403G>A (p.Ala135Thr)
n.914G>A
c.430G>A (p.Ala144Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710422C>ACA424036823AGTc.402G>T (p.Leu134=)
n.913G>T
c.429G>T (p.Leu143=)
1g.230710422C>GCA424036822AGTc.402G>C (p.Leu134=)
n.913G>C
c.429G>C (p.Leu143=)
1g.230710422C>TCA424036821AGTc.402G>A (p.Leu134=)
n.913G>A
c.429G>A (p.Leu143=)
1g.230710423A>CCA345206722AGTc.401T>G (p.Leu134Arg)
n.912T>G
c.428T>G (p.Leu143Arg)
1g.230710423A>GCA345206723AGTc.401T>C (p.Leu134Pro)
n.912T>C
c.428T>C (p.Leu143Pro)
1g.230710423A>TCA345206721AGTc.401T>A (p.Leu134Gln)
n.912T>A
c.428T>A (p.Leu143Gln)
1g.230710424G>ACA424036827AGTc.400C>T (p.Leu134=)
n.911C>T
c.427C>T (p.Leu143=)
1g.230710424G>CCA345206724AGTc.400C>G (p.Leu134Val)
n.911C>G
c.427C>G (p.Leu143Val)
1g.230710424G>TCA345206725AGTc.400C>A (p.Leu134Met)
n.911C>A
c.427C>A (p.Leu143Met)
1g.230710425G>ACA424036828AGTc.399C>T (p.Thr133=)
n.910C>T
c.426C>T (p.Thr142=)
gnomAD v4
1g.230710425G>CCA424036830AGTc.399C>G (p.Thr133=)
n.910C>G
c.426C>G (p.Thr142=)
1g.230710425G>TCA424036832AGTc.399C>A (p.Thr133=)
n.910C>A
c.426C>A (p.Thr142=)
1g.230710426G>ACA345206726AGTc.398C>T (p.Thr133Ile)
n.909C>T
c.425C>T (p.Thr142Ile)
dbSNP gnomAD v2 gnomAD v4
1g.230710426G>CCA1448302AGTc.398C>G (p.Thr133Ser)
n.909C>G
c.425C>G (p.Thr142Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710426G=CA1226669734AGTc.398C= (p.Thr133=)
n.909C=
c.425C= (p.Thr142=)
1g.230710426G>TCA345206727AGTc.398C>A (p.Thr133Asn)
n.909C>A
c.425C>A (p.Thr142Asn)
1g.230710427T>ACA345206729AGTc.397A>T (p.Thr133Ser)
n.908A>T
c.424A>T (p.Thr142Ser)
1g.230710427T>CCA1448303AGTc.397A>G (p.Thr133Ala)
n.908A>G
c.424A>G (p.Thr142Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710427T>GCA345206728AGTc.397A>C (p.Thr133Pro)
n.908A>C
c.424A>C (p.Thr142Pro)
dbSNP
1g.230710427T=CA1226669735AGTc.397A= (p.Thr133=)
n.908A=
c.424A= (p.Thr142=)
1g.230710427_230710437delinsTGCCAAAGACACA1226669736AGTc.387_397delinsTGTCTTTGGCA (p.Ala129=)
n.898_908delinsTGTCTTTGGCA
c.414_424delinsTGTCTTTGGCA (p.Ala138=)
1g.230710428G>ACA424036836AGTc.396C>T (p.Gly132=)
n.907C>T
c.423C>T (p.Gly141=)
1g.230710428G>CCA424036837AGTc.396C>G (p.Gly132=)
n.907C>G
c.423C>G (p.Gly141=)
1g.230710428G>TCA424036838AGTc.396C>A (p.Gly132=)
n.907C>A
c.423C>A (p.Gly141=)
1g.230710431_230710440delCA1013239946AGTc.387_396del (p.Val130ProfsTer?)
n.898_907del
c.414_423del (p.Val139ProfsTer?)
dbSNP gnomAD v3 gnomAD v4
1g.230710429C>ACA345206730AGTc.395G>T (p.Gly132Val)
n.906G>T
c.422G>T (p.Gly141Val)
1g.230710429C=CA1226669737AGTc.395G= (p.Gly132=)
n.906G=
c.422G= (p.Gly141=)
1g.230710429C>GCA345206731AGTc.395G>C (p.Gly132Ala)
n.906G>C
c.422G>C (p.Gly141Ala)
dbSNP gnomAD v3 gnomAD v4
1g.230710429C>TCA345206732AGTc.395G>A (p.Gly132Asp)
n.906G>A
c.422G>A (p.Gly141Asp)
1g.230710430C>ACA345206733AGTc.394G>T (p.Gly132Cys)
n.905G>T
c.421G>T (p.Gly141Cys)
dbSNP gnomAD v4
1g.230710430C=CA1226669738AGTc.394G= (p.Gly132=)
n.905G=
c.421G= (p.Gly141=)
1g.230710430C>GCA345206734AGTc.394G>C (p.Gly132Arg)
n.905G>C
c.421G>C (p.Gly141Arg)
1g.230710430C>TCA345206735AGTc.394G>A (p.Gly132Ser)
n.905G>A
c.421G>A (p.Gly141Ser)
1g.230710431A>CCA345206737AGTc.393T>G (p.Phe131Leu)
n.904T>G
c.420T>G (p.Phe140Leu)
1g.230710431A>GCA424036842AGTc.393T>C (p.Phe131=)
n.904T>C
c.420T>C (p.Phe140=)
1g.230710431A>TCA345206736AGTc.393T>A (p.Phe131Leu)
n.904T>A
c.420T>A (p.Phe140Leu)
1g.230710432A>CCA345206738AGTc.392T>G (p.Phe131Cys)
n.903T>G
c.419T>G (p.Phe140Cys)
1g.230710432A>GCA345206740AGTc.392T>C (p.Phe131Ser)
n.903T>C
c.419T>C (p.Phe140Ser)
1g.230710432A>TCA345206739AGTc.392T>A (p.Phe131Tyr)
n.903T>A
c.419T>A (p.Phe140Tyr)
1g.230710433A>CCA345206741AGTc.391T>G (p.Phe131Val)
n.902T>G
c.418T>G (p.Phe140Val)
1g.230710433A>GCA345206742AGTc.391T>C (p.Phe131Leu)
n.902T>C
c.418T>C (p.Phe140Leu)
1g.230710433A>TCA345206743AGTc.391T>A (p.Phe131Ile)
n.902T>A
c.418T>A (p.Phe140Ile)
1g.230710434G>ACA424036846AGTc.390C>T (p.Val130=)
n.901C>T
c.417C>T (p.Val139=)
COSMIC
1g.230710434G>CCA1448304AGTc.390C>G (p.Val130=)
n.901C>G
c.417C>G (p.Val139=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710434G=CA1226669739AGTc.390C= (p.Val130=)
n.901C=
c.417C= (p.Val139=)
1g.230710434G>TCA424036847AGTc.390C>A (p.Val130=)
n.901C>A
c.417C>A (p.Val139=)

Number of alleles fetched