Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.36245961_36246193delinsCTACA2573144542CLTA,GNEc.547_709+70delinsTAG
c.277_439+70delinsTAG
c.454_616+70delinsTAG
c.486-17237_486-17005delinsCTA (n.486-17237_486-17005delinsCTA)
c.439_601+70delinsTAG
 ClinVar dbSNP
9g.36245982T>CCA5056689CLTA,GNEc.709+49A>G (n.709+49A>G)
c.439+49A>G (n.439+49A>G)
c.616+49A>G (n.616+49A>G)
c.486-17216T>C (n.486-17216T>C)
c.601+49A>G (n.601+49A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36245982T=CA1846374888CLTA,GNEc.709+49A= (n.709+49A=)
c.439+49A= (n.439+49A=)
c.616+49A= (n.616+49A=)
c.486-17216T= (n.486-17216T=)
c.601+49A= (n.601+49A=)
9g.36245983T>ACA863602198CLTA,GNEc.709+48A>T (n.709+48A>T)
c.439+48A>T (n.439+48A>T)
c.616+48A>T (n.616+48A>T)
c.486-17215T>A (n.486-17215T>A)
c.601+48A>T (n.601+48A>T)
 dbSNP gnomAD v3 gnomAD v4
9g.36245983T=CA1846374894CLTA,GNEc.709+48A= (n.709+48A=)
c.439+48A= (n.439+48A=)
c.616+48A= (n.616+48A=)
c.486-17215T= (n.486-17215T=)
c.601+48A= (n.601+48A=)
9g.36245986C>TCA2689947808CLTA,GNEc.709+45G>A (n.709+45G>A)
c.439+45G>A (n.439+45G>A)
c.616+45G>A (n.616+45G>A)
c.486-17212C>T (n.486-17212C>T)
c.601+45G>A (n.601+45G>A)
 gnomAD v4
9g.36245988G>TCA2579338594CLTA,GNEc.709+43C>A (n.709+43C>A)
c.439+43C>A (n.439+43C>A)
c.616+43C>A (n.616+43C>A)
c.486-17210G>T (n.486-17210G>T)
c.601+43C>A (n.601+43C>A)
 gnomAD v4
9g.36245989A>CCA2689947809CLTA,GNEc.709+42T>G (n.709+42T>G)
c.439+42T>G (n.439+42T>G)
c.616+42T>G (n.616+42T>G)
c.486-17209A>C (n.486-17209A>C)
c.601+42T>G (n.601+42T>G)
 gnomAD v4
9g.36245990C>ACA587786408CLTA,GNEc.709+41G>T (n.709+41G>T)
c.439+41G>T (n.439+41G>T)
c.616+41G>T (n.616+41G>T)
c.486-17208C>A (n.486-17208C>A)
c.601+41G>T (n.601+41G>T)
 dbSNP gnomAD v2 gnomAD v4
9g.36245990C=CA1846374901CLTA,GNEc.709+41G= (n.709+41G=)
c.439+41G= (n.439+41G=)
c.616+41G= (n.616+41G=)
c.486-17208C= (n.486-17208C=)
c.601+41G= (n.601+41G=)
9g.36245990C>TCA587786407CLTA,GNEc.709+41G>A (n.709+41G>A)
c.439+41G>A (n.439+41G>A)
c.616+41G>A (n.616+41G>A)
c.486-17208C>T (n.486-17208C>T)
c.601+41G>A (n.601+41G>A)
 dbSNP gnomAD v2 gnomAD v4
9g.36245991A>TCA2689947811CLTA,GNEc.709+40T>A (n.709+40T>A)
c.439+40T>A (n.439+40T>A)
c.616+40T>A (n.616+40T>A)
c.486-17207A>T (n.486-17207A>T)
c.601+40T>A (n.601+40T>A)
 gnomAD v4
9g.36245995dupCA2783549246CLTA,GNEc.709+40dup (n.709+40dup)
c.439+40dup (n.439+40dup)
c.616+40dup (n.616+40dup)
c.486-17203dup (n.486-17203dup)
c.601+40dup (n.601+40dup)
9g.36245995delCA2689947810CLTA,GNEc.709+40del (n.709+40del)
c.439+40del (n.439+40del)
c.616+40del (n.616+40del)
c.486-17203del (n.486-17203del)
c.601+40del (n.601+40del)
 gnomAD v4
9g.36245993A=CA1846374904CLTA,GNEc.709+38T= (n.709+38T=)
c.439+38T= (n.439+38T=)
c.616+38T= (n.616+38T=)
c.486-17205A= (n.486-17205A=)
c.601+38T= (n.601+38T=)
9g.36245993A>GCA2689947812CLTA,GNEc.709+38T>C (n.709+38T>C)
c.439+38T>C (n.439+38T>C)
c.616+38T>C (n.616+38T>C)
c.486-17205A>G (n.486-17205A>G)
c.601+38T>C (n.601+38T>C)
 gnomAD v4
9g.36245993A>TCA1846374905CLTA,GNEc.709+38T>A (n.709+38T>A)
c.439+38T>A (n.439+38T>A)
c.616+38T>A (n.616+38T>A)
c.486-17205A>T (n.486-17205A>T)
c.601+38T>A (n.601+38T>A)
 dbSNP
9g.36245995A=CA1846374911CLTA,GNEc.709+36T= (n.709+36T=)
c.439+36T= (n.439+36T=)
c.616+36T= (n.616+36T=)
c.486-17203A= (n.486-17203A=)
c.601+36T= (n.601+36T=)
9g.36245995A>CCA5056690CLTA,GNEc.709+36T>G (n.709+36T>G)
c.439+36T>G (n.439+36T>G)
c.616+36T>G (n.616+36T>G)
c.486-17203A>C (n.486-17203A>C)
c.601+36T>G (n.601+36T>G)
 dbSNP ExAC gnomAD v4
9g.36245995_36245996insAAACCA192827974CLTA,GNEc.709+35_709+36insGTTT (n.709+35_709+36insGTTT)
c.439+35_439+36insGTTT (n.439+35_439+36insGTTT)
c.616+35_616+36insGTTT (n.616+35_616+36insGTTT)
c.486-17203_486-17202insAAAC (n.486-17203_486-17202insAAAC)
c.601+35_601+36insGTTT (n.601+35_601+36insGTTT)
 dbSNP
9g.36245996C=CA1846374915CLTA,GNEc.709+35G= (n.709+35G=)
c.439+35G= (n.439+35G=)
c.616+35G= (n.616+35G=)
c.486-17202C= (n.486-17202C=)
c.601+35G= (n.601+35G=)
9g.36245996C>GCA1846374916CLTA,GNEc.709+35G>C (n.709+35G>C)
c.439+35G>C (n.439+35G>C)
c.616+35G>C (n.616+35G>C)
c.486-17202C>G (n.486-17202C>G)
c.601+35G>C (n.601+35G>C)
 dbSNP gnomAD v4
9g.36245996C>TCA1846374913CLTA,GNEc.709+35G>A (n.709+35G>A)
c.439+35G>A (n.439+35G>A)
c.616+35G>A (n.616+35G>A)
c.486-17202C>T (n.486-17202C>T)
c.601+35G>A (n.601+35G>A)
 dbSNP
9g.36245997A>TCA2579338595CLTA,GNEc.709+34T>A (n.709+34T>A)
c.439+34T>A (n.439+34T>A)
c.616+34T>A (n.616+34T>A)
c.486-17201A>T (n.486-17201A>T)
c.601+34T>A (n.601+34T>A)
9g.36245998G>ACA2689947813CLTA,GNEc.709+33C>T (n.709+33C>T)
c.439+33C>T (n.439+33C>T)
c.616+33C>T (n.616+33C>T)
c.486-17200G>A (n.486-17200G>A)
c.601+33C>T (n.601+33C>T)
 gnomAD v4
9g.36245998G>TCA2579338596CLTA,GNEc.709+33C>A (n.709+33C>A)
c.439+33C>A (n.439+33C>A)
c.616+33C>A (n.616+33C>A)
c.486-17200G>T (n.486-17200G>T)
c.601+33C>A (n.601+33C>A)
 gnomAD v4
9g.36246000C>ACA588147228CLTA,GNEc.709+31G>T (n.709+31G>T)
c.439+31G>T (n.439+31G>T)
c.616+31G>T (n.616+31G>T)
c.486-17198C>A (n.486-17198C>A)
c.601+31G>T (n.601+31G>T)
 dbSNP gnomAD v2 gnomAD v4
9g.36246000C=CA1846374926CLTA,GNEc.709+31G= (n.709+31G=)
c.439+31G= (n.439+31G=)
c.616+31G= (n.616+31G=)
c.486-17198C= (n.486-17198C=)
c.601+31G= (n.601+31G=)
9g.36246000C>GCA1846374927CLTA,GNEc.709+31G>C (n.709+31G>C)
c.439+31G>C (n.439+31G>C)
c.616+31G>C (n.616+31G>C)
c.486-17198C>G (n.486-17198C>G)
c.601+31G>C (n.601+31G>C)
 dbSNP
9g.36246000_36246002delinsCATCA1846374924CLTA,GNEc.709+29_709+31delinsATG (n.709+29_709+31delinsATG)
c.439+29_439+31delinsATG (n.439+29_439+31delinsATG)
c.616+29_616+31delinsATG (n.616+29_616+31delinsATG)
c.486-17198_486-17196delinsCAT (n.486-17198_486-17196delinsCAT)
c.601+29_601+31delinsATG (n.601+29_601+31delinsATG)
9g.36246001A=CA1846374930CLTA,GNEc.709+30T= (n.709+30T=)
c.439+30T= (n.439+30T=)
c.616+30T= (n.616+30T=)
c.486-17197A= (n.486-17197A=)
c.601+30T= (n.601+30T=)
9g.36246001A>GCA863602218CLTA,GNEc.709+30T>C (n.709+30T>C)
c.439+30T>C (n.439+30T>C)
c.616+30T>C (n.616+30T>C)
c.486-17197A>G (n.486-17197A>G)
c.601+30T>C (n.601+30T>C)
 dbSNP
9g.36246001A>TCA5056692CLTA,GNEc.709+30T>A (n.709+30T>A)
c.439+30T>A (n.439+30T>A)
c.616+30T>A (n.616+30T>A)
c.486-17197A>T (n.486-17197A>T)
c.601+30T>A (n.601+30T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246001_36246002delCA5056691CLTA,GNEc.709+29_709+30del (n.709+29_709+30del)
c.439+29_439+30del (n.439+29_439+30del)
c.616+29_616+30del (n.616+29_616+30del)
c.486-17197_486-17196del (n.486-17197_486-17196del)
c.601+29_601+30del (n.601+29_601+30del)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246002T>CCA2579338597CLTA,GNEc.709+29A>G (n.709+29A>G)
c.439+29A>G (n.439+29A>G)
c.616+29A>G (n.616+29A>G)
c.486-17196T>C (n.486-17196T>C)
c.601+29A>G (n.601+29A>G)
 gnomAD v4
9g.36246002T>GCA2689947814CLTA,GNEc.709+29A>C (n.709+29A>C)
c.439+29A>C (n.439+29A>C)
c.616+29A>C (n.616+29A>C)
c.486-17196T>G (n.486-17196T>G)
c.601+29A>C (n.601+29A>C)
 gnomAD v4
9g.36246003T>CCA2689947815CLTA,GNEc.709+28A>G (n.709+28A>G)
c.439+28A>G (n.439+28A>G)
c.616+28A>G (n.616+28A>G)
c.486-17195T>C (n.486-17195T>C)
c.601+28A>G (n.601+28A>G)
 gnomAD v4
9g.36246004A=CA1846374934CLTA,GNEc.709+27T= (n.709+27T=)
c.439+27T= (n.439+27T=)
c.616+27T= (n.616+27T=)
c.486-17194A= (n.486-17194A=)
c.601+27T= (n.601+27T=)
9g.36246004A>CCA2689947816CLTA,GNEc.709+27T>G (n.709+27T>G)
c.439+27T>G (n.439+27T>G)
c.616+27T>G (n.616+27T>G)
c.486-17194A>C (n.486-17194A>C)
c.601+27T>G (n.601+27T>G)
 gnomAD v4
9g.36246004A>GCA5056693CLTA,GNEc.709+27T>C (n.709+27T>C)
c.439+27T>C (n.439+27T>C)
c.616+27T>C (n.616+27T>C)
c.486-17194A>G (n.486-17194A>G)
c.601+27T>C (n.601+27T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246004A>TCA2579338598CLTA,GNEc.709+27T>A (n.709+27T>A)
c.439+27T>A (n.439+27T>A)
c.616+27T>A (n.616+27T>A)
c.486-17194A>T (n.486-17194A>T)
c.601+27T>A (n.601+27T>A)
 gnomAD v4
9g.36246005G>ACA5056694CLTA,GNEc.709+26C>T (n.709+26C>T)
c.439+26C>T (n.439+26C>T)
c.616+26C>T (n.616+26C>T)
c.486-17193G>A (n.486-17193G>A)
c.601+26C>T (n.601+26C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246005G=CA1846374935CLTA,GNEc.709+26C= (n.709+26C=)
c.439+26C= (n.439+26C=)
c.616+26C= (n.616+26C=)
c.486-17193G= (n.486-17193G=)
c.601+26C= (n.601+26C=)
9g.36246005G>TCA2689947817CLTA,GNEc.709+26C>A (n.709+26C>A)
c.439+26C>A (n.439+26C>A)
c.616+26C>A (n.616+26C>A)
c.486-17193G>T (n.486-17193G>T)
c.601+26C>A (n.601+26C>A)
 gnomAD v4
9g.36246007C>GCA2689947818CLTA,GNEc.709+24G>C (n.709+24G>C)
c.439+24G>C (n.439+24G>C)
c.616+24G>C (n.616+24G>C)
c.486-17191C>G (n.486-17191C>G)
c.601+24G>C (n.601+24G>C)
 gnomAD v4
9g.36246008T>CCA5056695CLTA,GNEc.709+23A>G (n.709+23A>G)
c.439+23A>G (n.439+23A>G)
c.616+23A>G (n.616+23A>G)
c.486-17190T>C (n.486-17190T>C)
c.601+23A>G (n.601+23A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246008T=CA1846374938CLTA,GNEc.709+23A= (n.709+23A=)
c.439+23A= (n.439+23A=)
c.616+23A= (n.616+23A=)
c.486-17190T= (n.486-17190T=)
c.601+23A= (n.601+23A=)
9g.36246009G>ACA1846374942CLTA,GNEc.709+22C>T (n.709+22C>T)
c.439+22C>T (n.439+22C>T)
c.616+22C>T (n.616+22C>T)
c.486-17189G>A (n.486-17189G>A)
c.601+22C>T (n.601+22C>T)
 dbSNP
9g.36246009G=CA1846374941CLTA,GNEc.709+22C= (n.709+22C=)
c.439+22C= (n.439+22C=)
c.616+22C= (n.616+22C=)
c.486-17189G= (n.486-17189G=)
c.601+22C= (n.601+22C=)
9g.36246009G>TCA2689947819CLTA,GNEc.709+22C>A (n.709+22C>A)
c.439+22C>A (n.439+22C>A)
c.616+22C>A (n.616+22C>A)
c.486-17189G>T (n.486-17189G>T)
c.601+22C>A (n.601+22C>A)
 gnomAD v4
9g.36246011C=CA1846374946CLTA,GNEc.709+20G= (n.709+20G=)
c.439+20G= (n.439+20G=)
c.616+20G= (n.616+20G=)
c.486-17187C= (n.486-17187C=)
c.601+20G= (n.601+20G=)
9g.36246011C>GCA5056696CLTA,GNEc.709+20G>C (n.709+20G>C)
c.439+20G>C (n.439+20G>C)
c.616+20G>C (n.616+20G>C)
c.486-17187C>G (n.486-17187C>G)
c.601+20G>C (n.601+20G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246013A=CA1846374947CLTA,GNEc.709+18T= (n.709+18T=)
c.439+18T= (n.439+18T=)
c.616+18T= (n.616+18T=)
c.486-17185A= (n.486-17185A=)
c.601+18T= (n.601+18T=)
9g.36246013A>GCA192828007CLTA,GNEc.709+18T>C (n.709+18T>C)
c.439+18T>C (n.439+18T>C)
c.616+18T>C (n.616+18T>C)
c.486-17185A>G (n.486-17185A>G)
c.601+18T>C (n.601+18T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.36246016G=CA1846374948CLTA,GNEc.709+15C= (n.709+15C=)
c.439+15C= (n.439+15C=)
c.616+15C= (n.616+15C=)
c.486-17182G= (n.486-17182G=)
c.601+15C= (n.601+15C=)
9g.36246016G>TCA192828016CLTA,GNEc.709+15C>A (n.709+15C>A)
c.439+15C>A (n.439+15C>A)
c.616+15C>A (n.616+15C>A)
c.486-17182G>T (n.486-17182G>T)
c.601+15C>A (n.601+15C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36246018C=CA1846374951CLTA,GNEc.709+13G= (n.709+13G=)
c.439+13G= (n.439+13G=)
c.616+13G= (n.616+13G=)
c.486-17180C= (n.486-17180C=)
c.601+13G= (n.601+13G=)
9g.36246018C>GCA863602225CLTA,GNEc.709+13G>C (n.709+13G>C)
c.439+13G>C (n.439+13G>C)
c.616+13G>C (n.616+13G>C)
c.486-17180C>G (n.486-17180C>G)
c.601+13G>C (n.601+13G>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.36246019dupCA863602227CLTA,GNEc.709+12dup (n.709+12dup)
c.439+12dup (n.439+12dup)
c.616+12dup (n.616+12dup)
c.486-17179dup (n.486-17179dup)
c.601+12dup (n.601+12dup)
 dbSNP gnomAD v3 gnomAD v4
9g.36246021A=CA1846374959CLTA,GNEc.709+10T= (n.709+10T=)
c.439+10T= (n.439+10T=)
c.616+10T= (n.616+10T=)
c.486-17177A= (n.486-17177A=)
c.601+10T= (n.601+10T=)
9g.36246021A>TCA1846374963CLTA,GNEc.709+10T>A (n.709+10T>A)
c.439+10T>A (n.439+10T>A)
c.616+10T>A (n.616+10T>A)
c.486-17177A>T (n.486-17177A>T)
c.601+10T>A (n.601+10T>A)
 dbSNP
9g.36246022G>TCA2689947820CLTA,GNEc.709+9C>A (n.709+9C>A)
c.439+9C>A (n.439+9C>A)
c.616+9C>A (n.616+9C>A)
c.486-17176G>T (n.486-17176G>T)
c.601+9C>A (n.601+9C>A)
 gnomAD v4
9g.36246023A=CA1846374968CLTA,GNEc.709+8T= (n.709+8T=)
c.439+8T= (n.439+8T=)
c.616+8T= (n.616+8T=)
c.486-17175A= (n.486-17175A=)
c.601+8T= (n.601+8T=)
9g.36246023A>CCA1846374969CLTA,GNEc.709+8T>G (n.709+8T>G)
c.439+8T>G (n.439+8T>G)
c.616+8T>G (n.616+8T>G)
c.486-17175A>C (n.486-17175A>C)
c.601+8T>G (n.601+8T>G)
 dbSNP
9g.36246024T>CCA5056697CLTA,GNEc.709+7A>G (n.709+7A>G)
c.439+7A>G (n.439+7A>G)
c.616+7A>G (n.616+7A>G)
c.486-17174T>C (n.486-17174T>C)
c.601+7A>G (n.601+7A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246024T=CA1846374972CLTA,GNEc.709+7A= (n.709+7A=)
c.439+7A= (n.439+7A=)
c.616+7A= (n.616+7A=)
c.486-17174T= (n.486-17174T=)
c.601+7A= (n.601+7A=)
9g.36246025A>GCA2689947821CLTA,GNEc.709+6T>C (n.709+6T>C)
c.439+6T>C (n.439+6T>C)
c.616+6T>C (n.616+6T>C)
c.486-17173A>G (n.486-17173A>G)
c.601+6T>C (n.601+6T>C)
 gnomAD v4
9g.36246026C=CA1846374975CLTA,GNEc.709+5G= (n.709+5G=)
c.439+5G= (n.439+5G=)
c.616+5G= (n.616+5G=)
c.486-17172C= (n.486-17172C=)
c.601+5G= (n.601+5G=)
9g.36246026C>GCA2565778776CLTA,GNEc.709+5G>C (n.709+5G>C)
c.439+5G>C (n.439+5G>C)
c.616+5G>C (n.616+5G>C)
c.486-17172C>G (n.486-17172C>G)
c.601+5G>C (n.601+5G>C)
9g.36246026C>TCA5056698CLTA,GNEc.709+5G>A (n.709+5G>A)
c.439+5G>A (n.439+5G>A)
c.616+5G>A (n.616+5G>A)
c.486-17172C>T (n.486-17172C>T)
c.601+5G>A (n.601+5G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
9g.36246027G>ACA5056700CLTA,GNEc.709+4C>T (n.709+4C>T)
c.439+4C>T (n.439+4C>T)
c.616+4C>T (n.616+4C>T)
c.486-17171G>A (n.486-17171G>A)
c.601+4C>T (n.601+4C>T)
 ClinVar dbSNP ExAC gnomAD v4
9g.36246027G=CA1846374984CLTA,GNEc.709+4C= (n.709+4C=)
c.439+4C= (n.439+4C=)
c.616+4C= (n.616+4C=)
c.486-17171G= (n.486-17171G=)
c.601+4C= (n.601+4C=)
9g.36246027G>TCA5056699CLTA,GNEc.709+4C>A (n.709+4C>A)
c.439+4C>A (n.439+4C>A)
c.616+4C>A (n.616+4C>A)
c.486-17171G>T (n.486-17171G>T)
c.601+4C>A (n.601+4C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246030_36246033delCA2697557737CLTA,GNEc.709_709+3del
c.439_439+3del
c.616_616+3del
c.486-17168_486-17165del (n.486-17168_486-17165del)
c.601_601+3del
 ClinVar
9g.36246029A>CCA373417935CLTA,GNEc.709+2T>G (n.709+2T>G)
c.439+2T>G (n.439+2T>G)
c.616+2T>G (n.616+2T>G)
c.486-17169A>C (n.486-17169A>C)
c.601+2T>G (n.601+2T>G)
9g.36246029A>GCA373417937CLTA,GNEc.709+2T>C (n.709+2T>C)
c.439+2T>C (n.439+2T>C)
c.616+2T>C (n.616+2T>C)
c.486-17169A>G (n.486-17169A>G)
c.601+2T>C (n.601+2T>C)
9g.36246029A>TCA373417936CLTA,GNEc.709+2T>A (n.709+2T>A)
c.439+2T>A (n.439+2T>A)
c.616+2T>A (n.616+2T>A)
c.486-17169A>T (n.486-17169A>T)
c.601+2T>A (n.601+2T>A)
9g.36246029_36246030delCA913157668CLTA,GNEc.709+1_709+2del (n.709+1_709+2del)
c.439+1_439+2del (n.439+1_439+2del)
c.616+1_616+2del (n.616+1_616+2del)
c.486-17169_486-17168del (n.486-17169_486-17168del)
c.601+1_601+2del (n.601+1_601+2del)
9g.36246029_36246030delinsACCA1846374990CLTA,GNEc.709+1_709+2delinsGT (n.709+1_709+2delinsGT)
c.439+1_439+2delinsGT (n.439+1_439+2delinsGT)
c.616+1_616+2delinsGT (n.616+1_616+2delinsGT)
c.486-17169_486-17168delinsAC (n.486-17169_486-17168delinsAC)
c.601+1_601+2delinsGT (n.601+1_601+2delinsGT)
9g.36246030C>ACA373417938CLTA,GNEc.709+1G>T (n.709+1G>T)
c.439+1G>T (n.439+1G>T)
c.616+1G>T (n.616+1G>T)
c.486-17168C>A (n.486-17168C>A)
c.601+1G>T (n.601+1G>T)
9g.36246030C=CA1846374994CLTA,GNEc.709+1G= (n.709+1G=)
c.439+1G= (n.439+1G=)
c.616+1G= (n.616+1G=)
c.486-17168C= (n.486-17168C=)
c.601+1G= (n.601+1G=)
9g.36246030C>GCA373417939CLTA,GNEc.709+1G>C (n.709+1G>C)
c.439+1G>C (n.439+1G>C)
c.616+1G>C (n.616+1G>C)
c.486-17168C>G (n.486-17168C>G)
c.601+1G>C (n.601+1G>C)
9g.36246030C>TCA373417940CLTA,GNEc.709+1G>A (n.709+1G>A)
c.439+1G>A (n.439+1G>A)
c.616+1G>A (n.616+1G>A)
c.486-17168C>T (n.486-17168C>T)
c.601+1G>A (n.601+1G>A)
 dbSNP
9g.36246031delCA658822302CLTA,GNEc.709+1del
c.439+1del
c.616+1del
c.486-17167del (n.486-17167del)
c.601+1del
 ClinVar dbSNP gnomAD v4
9g.36246031C>ACA373417941CLTA,GNEc.709G>T (p.Gly237Cys)
c.439G>T (p.Gly147Cys)
c.616G>T (p.Gly206Cys)
c.486-17167C>A (n.486-17167C>A)
c.439G>T (p.Gly147Trp)
c.601G>T (p.Gly201Cys)
c.709G>T (p.Gly237Trp)
c.616G>T (p.Gly206Trp)
9g.36246031C=CA1846375002CLTA,GNEc.709G= (p.Gly237=)
c.439G= (p.Gly147=)
c.616G= (p.Gly206=)
c.486-17167C= (n.486-17167C=)
c.601G= (p.Gly201=)
9g.36246031C>GCA373417943CLTA,GNEc.709G>C (p.Gly237Arg)
c.439G>C (p.Gly147Arg)
c.616G>C (p.Gly206Arg)
c.486-17167C>G (n.486-17167C>G)
c.601G>C (p.Gly201Arg)
9g.36246031C>TCA5056701CLTA,GNEc.709G>A (p.Gly237Ser)
c.439G>A (p.Gly147Ser)
c.616G>A (p.Gly206Ser)
c.486-17167C>T (n.486-17167C>T)
c.439G>A (p.Gly147Arg)
c.601G>A (p.Gly201Ser)
c.709G>A (p.Gly237Arg)
c.616G>A (p.Gly206Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246032T>ACA464619567CLTA,GNEc.708A>T (p.Leu236=)
c.438A>T (p.Leu146=)
c.615A>T (p.Leu205=)
c.486-17166T>A (n.486-17166T>A)
c.600A>T (p.Leu200=)
9g.36246032T>CCA464619568CLTA,GNEc.708A>G (p.Leu236=)
c.438A>G (p.Leu146=)
c.615A>G (p.Leu205=)
c.486-17166T>C (n.486-17166T>C)
c.600A>G (p.Leu200=)
9g.36246032T>GCA464619569CLTA,GNEc.708A>C (p.Leu236=)
c.438A>C (p.Leu146=)
c.615A>C (p.Leu205=)
c.486-17166T>G (n.486-17166T>G)
c.600A>C (p.Leu200=)
9g.36246033A>CCA373417947CLTA,GNEc.707T>G (p.Leu236Arg)
c.437T>G (p.Leu146Arg)
c.614T>G (p.Leu205Arg)
c.486-17165A>C (n.486-17165A>C)
c.599T>G (p.Leu200Arg)
9g.36246033A>GCA373417949CLTA,GNEc.707T>C (p.Leu236Pro)
c.437T>C (p.Leu146Pro)
c.614T>C (p.Leu205Pro)
c.486-17165A>G (n.486-17165A>G)
c.599T>C (p.Leu200Pro)
9g.36246033A>TCA373417950CLTA,GNEc.707T>A (p.Leu236Gln)
c.437T>A (p.Leu146Gln)
c.614T>A (p.Leu205Gln)
c.486-17165A>T (n.486-17165A>T)
c.599T>A (p.Leu200Gln)
9g.36246034G>ACA464619573CLTA,GNEc.706C>T (p.Leu236=)
c.436C>T (p.Leu146=)
c.613C>T (p.Leu205=)
c.486-17164G>A (n.486-17164G>A)
c.598C>T (p.Leu200=)
9g.36246034G>CCA5056702CLTA,GNEc.706C>G (p.Leu236Val)
c.436C>G (p.Leu146Val)
c.613C>G (p.Leu205Val)
c.486-17164G>C (n.486-17164G>C)
c.598C>G (p.Leu200Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246034G=CA1846375010CLTA,GNEc.706C= (p.Leu236=)
c.436C= (p.Leu146=)
c.613C= (p.Leu205=)
c.486-17164G= (n.486-17164G=)
c.598C= (p.Leu200=)
9g.36246034G>TCA373417953CLTA,GNEc.706C>A (p.Leu236Ile)
c.436C>A (p.Leu146Ile)
c.613C>A (p.Leu205Ile)
c.486-17164G>T (n.486-17164G>T)
c.598C>A (p.Leu200Ile)
 gnomAD v4
9g.36246035C>ACA373417958CLTA,GNEc.705G>T (p.Trp235Cys)
c.435G>T (p.Trp145Cys)
c.612G>T (p.Trp204Cys)
c.486-17163C>A (n.486-17163C>A)
c.597G>T (p.Trp199Cys)
9g.36246035C=CA1846375019CLTA,GNEc.705G= (p.Trp235=)
c.435G= (p.Trp145=)
c.612G= (p.Trp204=)
c.486-17163C= (n.486-17163C=)
c.597G= (p.Trp199=)
9g.36246035C>GCA373417959CLTA,GNEc.705G>C (p.Trp235Cys)
c.435G>C (p.Trp145Cys)
c.612G>C (p.Trp204Cys)
c.486-17163C>G (n.486-17163C>G)
c.597G>C (p.Trp199Cys)
9g.36246035C>TCA273969CLTA,GNEc.705G>A (p.Trp235Ter)
c.435G>A (p.Trp145Ter)
c.612G>A (p.Trp204Ter)
c.486-17163C>T (n.486-17163C>T)
c.597G>A (p.Trp199Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36246036C>ACA373417968CLTA,GNEc.704G>T (p.Trp235Leu)
c.434G>T (p.Trp145Leu)
c.611G>T (p.Trp204Leu)
c.486-17162C>A (n.486-17162C>A)
c.596G>T (p.Trp199Leu)
9g.36246036C=CA1846375024CLTA,GNEc.704G= (p.Trp235=)
c.434G= (p.Trp145=)
c.611G= (p.Trp204=)
c.486-17162C= (n.486-17162C=)
c.596G= (p.Trp199=)
9g.36246036C>GCA5056703CLTA,GNEc.704G>C (p.Trp235Ser)
c.434G>C (p.Trp145Ser)
c.611G>C (p.Trp204Ser)
c.486-17162C>G (n.486-17162C>G)
c.596G>C (p.Trp199Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246036C>TCA373417964CLTA,GNEc.704G>A (p.Trp235Ter)
c.434G>A (p.Trp145Ter)
c.611G>A (p.Trp204Ter)
c.486-17162C>T (n.486-17162C>T)
c.596G>A (p.Trp199Ter)
 dbSNP gnomAD v2 gnomAD v4
9g.36246037A>CCA373417969CLTA,GNEc.703T>G (p.Trp235Gly)
c.433T>G (p.Trp145Gly)
c.610T>G (p.Trp204Gly)
c.486-17161A>C (n.486-17161A>C)
c.595T>G (p.Trp199Gly)
9g.36246037A>GCA373417970CLTA,GNEc.703T>C (p.Trp235Arg)
c.433T>C (p.Trp145Arg)
c.610T>C (p.Trp204Arg)
c.486-17161A>G (n.486-17161A>G)
c.595T>C (p.Trp199Arg)
9g.36246037A>TCA373417971CLTA,GNEc.703T>A (p.Trp235Arg)
c.433T>A (p.Trp145Arg)
c.610T>A (p.Trp204Arg)
c.486-17161A>T (n.486-17161A>T)
c.595T>A (p.Trp199Arg)
9g.36246038C>ACA373417974CLTA,GNEc.702G>T (p.Met234Ile)
c.432G>T (p.Met144Ile)
c.609G>T (p.Met203Ile)
c.486-17160C>A (n.486-17160C>A)
c.594G>T (p.Met198Ile)
9g.36246038C>GCA373417973CLTA,GNEc.702G>C (p.Met234Ile)
c.432G>C (p.Met144Ile)
c.609G>C (p.Met203Ile)
c.486-17160C>G (n.486-17160C>G)
c.594G>C (p.Met198Ile)
9g.36246038C>TCA373417972CLTA,GNEc.702G>A (p.Met234Ile)
c.432G>A (p.Met144Ile)
c.609G>A (p.Met203Ile)
c.486-17160C>T (n.486-17160C>T)
c.594G>A (p.Met198Ile)
 gnomAD v4
9g.36246039A=CA1846375029CLTA,GNEc.701T= (p.Met234=)
c.431T= (p.Met144=)
c.608T= (p.Met203=)
c.486-17159A= (n.486-17159A=)
c.593T= (p.Met198=)
9g.36246039A>CCA373417975CLTA,GNEc.701T>G (p.Met234Arg)
c.431T>G (p.Met144Arg)
c.608T>G (p.Met203Arg)
c.486-17159A>C (n.486-17159A>C)
c.593T>G (p.Met198Arg)
9g.36246039A>GCA373417976CLTA,GNEc.701T>C (p.Met234Thr)
c.431T>C (p.Met144Thr)
c.608T>C (p.Met203Thr)
c.486-17159A>G (n.486-17159A>G)
c.593T>C (p.Met198Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.36246039A>TCA5056704CLTA,GNEc.701T>A (p.Met234Lys)
c.431T>A (p.Met144Lys)
c.608T>A (p.Met203Lys)
c.486-17159A>T (n.486-17159A>T)
c.593T>A (p.Met198Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246040T>ACA373417977CLTA,GNEc.700A>T (p.Met234Leu)
c.430A>T (p.Met144Leu)
c.607A>T (p.Met203Leu)
c.486-17158T>A (n.486-17158T>A)
c.592A>T (p.Met198Leu)
 gnomAD v4
9g.36246040T>CCA373417978CLTA,GNEc.700A>G (p.Met234Val)
c.430A>G (p.Met144Val)
c.607A>G (p.Met203Val)
c.486-17158T>C (n.486-17158T>C)
c.592A>G (p.Met198Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36246040T>GCA373417979CLTA,GNEc.700A>C (p.Met234Leu)
c.430A>C (p.Met144Leu)
c.607A>C (p.Met203Leu)
c.486-17158T>G (n.486-17158T>G)
c.592A>C (p.Met198Leu)
9g.36246040T=CA1846375040CLTA,GNEc.700A= (p.Met234=)
c.430A= (p.Met144=)
c.607A= (p.Met203=)
c.486-17158T= (n.486-17158T=)
c.592A= (p.Met198=)
9g.36246041G>ACA464619586CLTA,GNEc.699C>T (p.Arg233=)
c.429C>T (p.Arg143=)
c.606C>T (p.Arg202=)
c.486-17157G>A (n.486-17157G>A)
c.591C>T (p.Arg197=)
9g.36246041G>CCA464619589CLTA,GNEc.699C>G (p.Arg233=)
c.429C>G (p.Arg143=)
c.606C>G (p.Arg202=)
c.486-17157G>C (n.486-17157G>C)
c.591C>G (p.Arg197=)
9g.36246041G>TCA464619584CLTA,GNEc.699C>A (p.Arg233=)
c.429C>A (p.Arg143=)
c.606C>A (p.Arg202=)
c.486-17157G>T (n.486-17157G>T)
c.591C>A (p.Arg197=)
9g.36246042C>ACA5056705CLTA,GNEc.698G>T (p.Arg233Leu)
c.428G>T (p.Arg143Leu)
c.605G>T (p.Arg202Leu)
c.486-17156C>A (n.486-17156C>A)
c.590G>T (p.Arg197Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246042C=CA1846375049CLTA,GNEc.698G= (p.Arg233=)
c.428G= (p.Arg143=)
c.605G= (p.Arg202=)
c.486-17156C= (n.486-17156C=)
c.590G= (p.Arg197=)
9g.36246042C>GCA373417980CLTA,GNEc.698G>C (p.Arg233Pro)
c.428G>C (p.Arg143Pro)
c.605G>C (p.Arg202Pro)
c.486-17156C>G (n.486-17156C>G)
c.590G>C (p.Arg197Pro)
 ClinVar
9g.36246042C>TCA373417981CLTA,GNEc.698G>A (p.Arg233His)
c.428G>A (p.Arg143His)
c.605G>A (p.Arg202His)
c.486-17156C>T (n.486-17156C>T)
c.590G>A (p.Arg197His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
9g.36246043G>ACA5056706CLTA,GNEc.697C>T (p.Arg233Cys)
c.427C>T (p.Arg143Cys)
c.604C>T (p.Arg202Cys)
c.486-17155G>A (n.486-17155G>A)
c.589C>T (p.Arg197Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246043G>CCA373417982CLTA,GNEc.697C>G (p.Arg233Gly)
c.427C>G (p.Arg143Gly)
c.604C>G (p.Arg202Gly)
c.486-17155G>C (n.486-17155G>C)
c.589C>G (p.Arg197Gly)
9g.36246043G=CA1846375060CLTA,GNEc.697C= (p.Arg233=)
c.427C= (p.Arg143=)
c.604C= (p.Arg202=)
c.486-17155G= (n.486-17155G=)
c.589C= (p.Arg197=)
9g.36246043G>TCA373417983CLTA,GNEc.697C>A (p.Arg233Ser)
c.427C>A (p.Arg143Ser)
c.604C>A (p.Arg202Ser)
c.486-17155G>T (n.486-17155G>T)
c.589C>A (p.Arg197Ser)
9g.36246045_36246048dupCA10603834CLTA,GNEc.694_697dup (p.Arg233HisfsTer7)
c.424_427dup (p.Arg143HisfsTer7)
c.601_604dup (p.Arg202HisfsTer7)
c.486-17153_486-17150dup (n.486-17153_486-17150dup)
c.424_427dup (p.Arg143HisfsTer20)
c.586_589dup (p.Arg197HisfsTer7)
c.694_697dup (p.Arg233HisfsTer20)
c.601_604dup (p.Arg202HisfsTer20)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36246044A>CCA373417984CLTA,GNEc.696T>G (p.Ile232Met)
c.426T>G (p.Ile142Met)
c.603T>G (p.Ile201Met)
c.486-17154A>C (n.486-17154A>C)
c.588T>G (p.Ile196Met)
9g.36246044A>GCA464619596CLTA,GNEc.696T>C (p.Ile232=)
c.426T>C (p.Ile142=)
c.603T>C (p.Ile201=)
c.486-17154A>G (n.486-17154A>G)
c.588T>C (p.Ile196=)
9g.36246044A>TCA464619597CLTA,GNEc.696T>A (p.Ile232=)
c.426T>A (p.Ile142=)
c.603T>A (p.Ile201=)
c.486-17154A>T (n.486-17154A>T)
c.588T>A (p.Ile196=)
9g.36246045A=CA1846375070CLTA,GNEc.695T= (p.Ile232=)
c.425T= (p.Ile142=)
c.602T= (p.Ile201=)
c.486-17153A= (n.486-17153A=)
c.587T= (p.Ile196=)
9g.36246045A>CCA373417985CLTA,GNEc.695T>G (p.Ile232Ser)
c.425T>G (p.Ile142Ser)
c.602T>G (p.Ile201Ser)
c.486-17153A>C (n.486-17153A>C)
c.587T>G (p.Ile196Ser)
9g.36246045A>GCA373417986CLTA,GNEc.695T>C (p.Ile232Thr)
c.425T>C (p.Ile142Thr)
c.602T>C (p.Ile201Thr)
c.486-17153A>G (n.486-17153A>G)
c.587T>C (p.Ile196Thr)
9g.36246045A>TCA373417987CLTA,GNEc.695T>A (p.Ile232Asn)
c.425T>A (p.Ile142Asn)
c.602T>A (p.Ile201Asn)
c.486-17153A>T (n.486-17153A>T)
c.587T>A (p.Ile196Asn)
 ClinVar dbSNP gnomAD v4
9g.36246046T>ACA373417988CLTA,GNEc.694A>T (p.Ile232Phe)
c.424A>T (p.Ile142Phe)
c.601A>T (p.Ile201Phe)
c.486-17152T>A (n.486-17152T>A)
c.586A>T (p.Ile196Phe)
9g.36246046T>CCA5056707CLTA,GNEc.694A>G (p.Ile232Val)
c.424A>G (p.Ile142Val)
c.601A>G (p.Ile201Val)
c.486-17152T>C (n.486-17152T>C)
c.586A>G (p.Ile196Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246046T>GCA373417989CLTA,GNEc.694A>C (p.Ile232Leu)
c.424A>C (p.Ile142Leu)
c.601A>C (p.Ile201Leu)
c.486-17152T>G (n.486-17152T>G)
c.586A>C (p.Ile196Leu)
9g.36246046T=CA1846375078CLTA,GNEc.694A= (p.Ile232=)
c.424A= (p.Ile142=)
c.601A= (p.Ile201=)
c.486-17152T= (n.486-17152T=)
c.586A= (p.Ile196=)
9g.36246047G>ACA202360CLTA,GNEc.693C>T (p.Ile231=)
c.423C>T (p.Ile141=)
c.600C>T (p.Ile200=)
c.486-17151G>A (n.486-17151G>A)
c.585C>T (p.Ile195=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246047G>CCA373417990CLTA,GNEc.693C>G (p.Ile231Met)
c.423C>G (p.Ile141Met)
c.600C>G (p.Ile200Met)
c.486-17151G>C (n.486-17151G>C)
c.585C>G (p.Ile195Met)
9g.36246047G=CA1846375088CLTA,GNEc.693C= (p.Ile231=)
c.423C= (p.Ile141=)
c.600C= (p.Ile200=)
c.486-17151G= (n.486-17151G=)
c.585C= (p.Ile195=)
9g.36246047G>TCA464619607CLTA,GNEc.693C>A (p.Ile231=)
c.423C>A (p.Ile141=)
c.600C>A (p.Ile200=)
c.486-17151G>T (n.486-17151G>T)
c.585C>A (p.Ile195=)
9g.36246048A>CCA373417991CLTA,GNEc.692T>G (p.Ile231Ser)
c.422T>G (p.Ile141Ser)
c.599T>G (p.Ile200Ser)
c.486-17150A>C (n.486-17150A>C)
c.584T>G (p.Ile195Ser)
9g.36246048A>GCA373417993CLTA,GNEc.692T>C (p.Ile231Thr)
c.422T>C (p.Ile141Thr)
c.599T>C (p.Ile200Thr)
c.486-17150A>G (n.486-17150A>G)
c.584T>C (p.Ile195Thr)
9g.36246048A>TCA373417992CLTA,GNEc.692T>A (p.Ile231Asn)
c.422T>A (p.Ile141Asn)
c.599T>A (p.Ile200Asn)
c.486-17150A>T (n.486-17150A>T)
c.584T>A (p.Ile195Asn)
9g.36246049T>ACA5056708CLTA,GNEc.691A>T (p.Ile231Phe)
c.421A>T (p.Ile141Phe)
c.598A>T (p.Ile200Phe)
c.486-17149T>A (n.486-17149T>A)
c.583A>T (p.Ile195Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246049T>CCA373417994CLTA,GNEc.691A>G (p.Ile231Val)
c.421A>G (p.Ile141Val)
c.598A>G (p.Ile200Val)
c.486-17149T>C (n.486-17149T>C)
c.583A>G (p.Ile195Val)
 dbSNP gnomAD v2 gnomAD v4
9g.36246049T>GCA373417995CLTA,GNEc.691A>C (p.Ile231Leu)
c.421A>C (p.Ile141Leu)
c.598A>C (p.Ile200Leu)
c.486-17149T>G (n.486-17149T>G)
c.583A>C (p.Ile195Leu)
9g.36246049T=CA1846375097CLTA,GNEc.691A= (p.Ile231=)
c.421A= (p.Ile141=)
c.598A= (p.Ile200=)
c.486-17149T= (n.486-17149T=)
c.583A= (p.Ile195=)
9g.36246050G>ACA464619609CLTA,GNEc.690C>T (p.Ser230=)
c.420C>T (p.Ser140=)
c.597C>T (p.Ser199=)
c.486-17148G>A (n.486-17148G>A)
c.582C>T (p.Ser194=)
 ClinVar gnomAD v4
9g.36246050G>CCA373417996CLTA,GNEc.690C>G (p.Ser230Arg)
c.420C>G (p.Ser140Arg)
c.597C>G (p.Ser199Arg)
c.486-17148G>C (n.486-17148G>C)
c.582C>G (p.Ser194Arg)
9g.36246050G=CA1846375101CLTA,GNEc.690C= (p.Ser230=)
c.420C= (p.Ser140=)
c.597C= (p.Ser199=)
c.486-17148G= (n.486-17148G=)
c.582C= (p.Ser194=)
9g.36246050G>TCA373417997CLTA,GNEc.690C>A (p.Ser230Arg)
c.420C>A (p.Ser140Arg)
c.597C>A (p.Ser199Arg)
c.486-17148G>T (n.486-17148G>T)
c.582C>A (p.Ser194Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36246051C>ACA373418000CLTA,GNEc.689G>T (p.Ser230Ile)
c.419G>T (p.Ser140Ile)
c.596G>T (p.Ser199Ile)
c.486-17147C>A (n.486-17147C>A)
c.581G>T (p.Ser194Ile)
 COSMIC COSMIC COSMIC
9g.36246051C>GCA373417999CLTA,GNEc.689G>C (p.Ser230Thr)
c.419G>C (p.Ser140Thr)
c.596G>C (p.Ser199Thr)
c.486-17147C>G (n.486-17147C>G)
c.581G>C (p.Ser194Thr)
9g.36246051C>TCA373417998CLTA,GNEc.689G>A (p.Ser230Asn)
c.419G>A (p.Ser140Asn)
c.596G>A (p.Ser199Asn)
c.486-17147C>T (n.486-17147C>T)
c.581G>A (p.Ser194Asn)
9g.36246052T>ACA373418001CLTA,GNEc.688A>T (p.Ser230Cys)
c.418A>T (p.Ser140Cys)
c.595A>T (p.Ser199Cys)
c.486-17146T>A (n.486-17146T>A)
c.580A>T (p.Ser194Cys)
9g.36246052T>CCA373418002CLTA,GNEc.688A>G (p.Ser230Gly)
c.418A>G (p.Ser140Gly)
c.595A>G (p.Ser199Gly)
c.486-17146T>C (n.486-17146T>C)
c.580A>G (p.Ser194Gly)
 gnomAD v4
9g.36246052T>GCA373418003CLTA,GNEc.688A>C (p.Ser230Arg)
c.418A>C (p.Ser140Arg)
c.595A>C (p.Ser199Arg)
c.486-17146T>G (n.486-17146T>G)
c.580A>C (p.Ser194Arg)
9g.36246053C>ACA373418004CLTA,GNEc.687G>T (p.Met229Ile)
c.417G>T (p.Met139Ile)
c.594G>T (p.Met198Ile)
c.486-17145C>A (n.486-17145C>A)
c.579G>T (p.Met193Ile)
9g.36246053C=CA1846375105CLTA,GNEc.687G= (p.Met229=)
c.417G= (p.Met139=)
c.594G= (p.Met198=)
c.486-17145C= (n.486-17145C=)
c.579G= (p.Met193=)
9g.36246053C>GCA373418005CLTA,GNEc.687G>C (p.Met229Ile)
c.417G>C (p.Met139Ile)
c.594G>C (p.Met198Ile)
c.486-17145C>G (n.486-17145C>G)
c.579G>C (p.Met193Ile)
9g.36246053C>TCA373418006CLTA,GNEc.687G>A (p.Met229Ile)
c.417G>A (p.Met139Ile)
c.594G>A (p.Met198Ile)
c.486-17145C>T (n.486-17145C>T)
c.579G>A (p.Met193Ile)
 ClinVar dbSNP
9g.36246054A=CA1846375111CLTA,GNEc.686T= (p.Met229=)
c.416T= (p.Met139=)
c.593T= (p.Met198=)
c.486-17144A= (n.486-17144A=)
c.578T= (p.Met193=)
9g.36246054A>CCA373418007CLTA,GNEc.686T>G (p.Met229Arg)
c.416T>G (p.Met139Arg)
c.593T>G (p.Met198Arg)
c.486-17144A>C (n.486-17144A>C)
c.578T>G (p.Met193Arg)
 dbSNP gnomAD v4
9g.36246054A>GCA5056709CLTA,GNEc.686T>C (p.Met229Thr)
c.416T>C (p.Met139Thr)
c.593T>C (p.Met198Thr)
c.486-17144A>G (n.486-17144A>G)
c.578T>C (p.Met193Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
9g.36246054A>TCA373418008CLTA,GNEc.686T>A (p.Met229Lys)
c.416T>A (p.Met139Lys)
c.593T>A (p.Met198Lys)
c.486-17144A>T (n.486-17144A>T)
c.578T>A (p.Met193Lys)
 gnomAD v4
9g.36246055T>ACA373418009CLTA,GNEc.685A>T (p.Met229Leu)
c.415A>T (p.Met139Leu)
c.592A>T (p.Met198Leu)
c.486-17143T>A (n.486-17143T>A)
c.577A>T (p.Met193Leu)
9g.36246055T>CCA373418010CLTA,GNEc.685A>G (p.Met229Val)
c.415A>G (p.Met139Val)
c.592A>G (p.Met198Val)
c.486-17143T>C (n.486-17143T>C)
c.577A>G (p.Met193Val)
 gnomAD v2 gnomAD v4
9g.36246055T>GCA373418011CLTA,GNEc.685A>C (p.Met229Leu)
c.415A>C (p.Met139Leu)
c.592A>C (p.Met198Leu)
c.486-17143T>G (n.486-17143T>G)
c.577A>C (p.Met193Leu)
9g.36246056G>ACA464619629CLTA,GNEc.684C>T (p.Tyr228=)
c.414C>T (p.Tyr138=)
c.591C>T (p.Tyr197=)
c.486-17142G>A (n.486-17142G>A)
c.576C>T (p.Tyr192=)
 ClinVar dbSNP
9g.36246056G>CCA373418012CLTA,GNEc.684C>G (p.Tyr228Ter)
c.414C>G (p.Tyr138Ter)
c.591C>G (p.Tyr197Ter)
c.486-17142G>C (n.486-17142G>C)
c.576C>G (p.Tyr192Ter)
9g.36246056G>TCA373418013CLTA,GNEc.684C>A (p.Tyr228Ter)
c.414C>A (p.Tyr138Ter)
c.591C>A (p.Tyr197Ter)
c.486-17142G>T (n.486-17142G>T)
c.576C>A (p.Tyr192Ter)
9g.36246057T>ACA373418014CLTA,GNEc.683A>T (p.Tyr228Phe)
c.413A>T (p.Tyr138Phe)
c.590A>T (p.Tyr197Phe)
c.486-17141T>A (n.486-17141T>A)
c.575A>T (p.Tyr192Phe)
9g.36246057T>CCA373418015CLTA,GNEc.683A>G (p.Tyr228Cys)
c.413A>G (p.Tyr138Cys)
c.590A>G (p.Tyr197Cys)
c.486-17141T>C (n.486-17141T>C)
c.575A>G (p.Tyr192Cys)
 gnomAD v4
9g.36246057T>GCA373418016CLTA,GNEc.683A>C (p.Tyr228Ser)
c.413A>C (p.Tyr138Ser)
c.590A>C (p.Tyr197Ser)
c.486-17141T>G (n.486-17141T>G)
c.575A>C (p.Tyr192Ser)
9g.36246058A>CCA373418017CLTA,GNEc.682T>G (p.Tyr228Asp)
c.412T>G (p.Tyr138Asp)
c.589T>G (p.Tyr197Asp)
c.486-17140A>C (n.486-17140A>C)
c.574T>G (p.Tyr192Asp)
9g.36246058A>GCA373418018CLTA,GNEc.682T>C (p.Tyr228His)
c.412T>C (p.Tyr138His)
c.589T>C (p.Tyr197His)
c.486-17140A>G (n.486-17140A>G)
c.574T>C (p.Tyr192His)
9g.36246058A>TCA373418019CLTA,GNEc.682T>A (p.Tyr228Asn)
c.412T>A (p.Tyr138Asn)
c.589T>A (p.Tyr197Asn)
c.486-17140A>T (n.486-17140A>T)
c.574T>A (p.Tyr192Asn)
9g.36246059G>ACA464619634CLTA,GNEc.681C>T (p.Asp227=)
c.411C>T (p.Asp137=)
c.588C>T (p.Asp196=)
c.486-17139G>A (n.486-17139G>A)
c.573C>T (p.Asp191=)
 ClinVar
9g.36246059G>CCA373418020CLTA,GNEc.681C>G (p.Asp227Glu)
c.411C>G (p.Asp137Glu)
c.588C>G (p.Asp196Glu)
c.486-17139G>C (n.486-17139G>C)
c.573C>G (p.Asp191Glu)
9g.36246059G>TCA373418021CLTA,GNEc.681C>A (p.Asp227Glu)
c.411C>A (p.Asp137Glu)
c.588C>A (p.Asp196Glu)
c.486-17139G>T (n.486-17139G>T)
c.573C>A (p.Asp191Glu)
9g.36246059dupCA2689947822CLTA,GNEc.681dup (p.Tyr228LeufsTer11)
c.411dup (p.Tyr138LeufsTer11)
c.588dup (p.Tyr197LeufsTer11)
c.486-17139dup (n.486-17139dup)
c.411dup (p.Tyr138LeufsTer24)
c.573dup (p.Tyr192LeufsTer11)
c.681dup (p.Tyr228LeufsTer24)
c.588dup (p.Tyr197LeufsTer24)
 gnomAD v4
9g.36246060T>ACA373418022CLTA,GNEc.680A>T (p.Asp227Val)
c.410A>T (p.Asp137Val)
c.587A>T (p.Asp196Val)
c.486-17138T>A (n.486-17138T>A)
c.572A>T (p.Asp191Val)
9g.36246060T>CCA373418024CLTA,GNEc.680A>G (p.Asp227Gly)
c.410A>G (p.Asp137Gly)
c.587A>G (p.Asp196Gly)
c.486-17138T>C (n.486-17138T>C)
c.572A>G (p.Asp191Gly)
9g.36246060T>GCA373418023CLTA,GNEc.680A>C (p.Asp227Ala)
c.410A>C (p.Asp137Ala)
c.587A>C (p.Asp196Ala)
c.486-17138T>G (n.486-17138T>G)
c.572A>C (p.Asp191Ala)
9g.36246061C>ACA373418025CLTA,GNEc.679G>T (p.Asp227Tyr)
c.409G>T (p.Asp137Tyr)
c.586G>T (p.Asp196Tyr)
c.486-17137C>A (n.486-17137C>A)
c.571G>T (p.Asp191Tyr)
9g.36246061C>GCA373418026CLTA,GNEc.679G>C (p.Asp227His)
c.409G>C (p.Asp137His)
c.586G>C (p.Asp196His)
c.486-17137C>G (n.486-17137C>G)
c.571G>C (p.Asp191His)
 ClinVar dbSNP
9g.36246061C>TCA373418027CLTA,GNEc.679G>A (p.Asp227Asn)
c.409G>A (p.Asp137Asn)
c.586G>A (p.Asp196Asn)
c.486-17137C>T (n.486-17137C>T)
c.571G>A (p.Asp191Asn)
9g.36246062T>ACA373418028CLTA,GNEc.678A>T (p.Lys226Asn)
c.408A>T (p.Lys136Asn)
c.585A>T (p.Lys195Asn)
c.486-17136T>A (n.486-17136T>A)
c.570A>T (p.Lys190Asn)
9g.36246062T>CCA464619643CLTA,GNEc.678A>G (p.Lys226=)
c.408A>G (p.Lys136=)
c.585A>G (p.Lys195=)
c.486-17136T>C (n.486-17136T>C)
c.570A>G (p.Lys190=)
9g.36246062T>GCA373418029CLTA,GNEc.678A>C (p.Lys226Asn)
c.408A>C (p.Lys136Asn)
c.585A>C (p.Lys195Asn)
c.486-17136T>G (n.486-17136T>G)
c.570A>C (p.Lys190Asn)
9g.36246063T>ACA373418030CLTA,GNEc.677A>T (p.Lys226Ile)
c.407A>T (p.Lys136Ile)
c.584A>T (p.Lys195Ile)
c.486-17135T>A (n.486-17135T>A)
c.569A>T (p.Lys190Ile)
9g.36246063T>CCA373418031CLTA,GNEc.677A>G (p.Lys226Arg)
c.407A>G (p.Lys136Arg)
c.584A>G (p.Lys195Arg)
c.486-17135T>C (n.486-17135T>C)
c.569A>G (p.Lys190Arg)
9g.36246063T>GCA373418032CLTA,GNEc.677A>C (p.Lys226Thr)
c.407A>C (p.Lys136Thr)
c.584A>C (p.Lys195Thr)
c.486-17135T>G (n.486-17135T>G)
c.569A>C (p.Lys190Thr)
9g.36246064T>ACA373418033CLTA,GNEc.676A>T (p.Lys226Ter)
c.406A>T (p.Lys136Ter)
c.583A>T (p.Lys195Ter)
c.486-17134T>A (n.486-17134T>A)
c.568A>T (p.Lys190Ter)
9g.36246064T>CCA373418034CLTA,GNEc.676A>G (p.Lys226Glu)
c.406A>G (p.Lys136Glu)
c.583A>G (p.Lys195Glu)
c.486-17134T>C (n.486-17134T>C)
c.568A>G (p.Lys190Glu)
 dbSNP
9g.36246064T>GCA373418035CLTA,GNEc.676A>C (p.Lys226Gln)
c.406A>C (p.Lys136Gln)
c.583A>C (p.Lys195Gln)
c.486-17134T>G (n.486-17134T>G)
c.568A>C (p.Lys190Gln)
9g.36246064T=CA1846375117CLTA,GNEc.676A= (p.Lys226=)
c.406A= (p.Lys136=)
c.583A= (p.Lys195=)
c.486-17134T= (n.486-17134T=)
c.568A= (p.Lys190=)
9g.36246065G>ACA5056710CLTA,GNEc.675C>T (p.Asn225=)
c.405C>T (p.Asn135=)
c.582C>T (p.Asn194=)
c.486-17133G>A (n.486-17133G>A)
c.567C>T (p.Asn189=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246065G>CCA373418038CLTA,GNEc.675C>G (p.Asn225Lys)
c.405C>G (p.Asn135Lys)
c.582C>G (p.Asn194Lys)
c.486-17133G>C (n.486-17133G>C)
c.567C>G (p.Asn189Lys)
9g.36246065G=CA1846375124CLTA,GNEc.675C= (p.Asn225=)
c.405C= (p.Asn135=)
c.582C= (p.Asn194=)
c.486-17133G= (n.486-17133G=)
c.567C= (p.Asn189=)
9g.36246065G>TCA373418040CLTA,GNEc.675C>A (p.Asn225Lys)
c.405C>A (p.Asn135Lys)
c.582C>A (p.Asn194Lys)
c.486-17133G>T (n.486-17133G>T)
c.567C>A (p.Asn189Lys)
9g.36246066T>ACA373418043CLTA,GNEc.674A>T (p.Asn225Ile)
c.404A>T (p.Asn135Ile)
c.581A>T (p.Asn194Ile)
c.486-17132T>A (n.486-17132T>A)
c.566A>T (p.Asn189Ile)
9g.36246066T>CCA373418045CLTA,GNEc.674A>G (p.Asn225Ser)
c.404A>G (p.Asn135Ser)
c.581A>G (p.Asn194Ser)
c.486-17132T>C (n.486-17132T>C)
c.566A>G (p.Asn189Ser)
9g.36246066T>GCA373418046CLTA,GNEc.674A>C (p.Asn225Thr)
c.404A>C (p.Asn135Thr)
c.581A>C (p.Asn194Thr)
c.486-17132T>G (n.486-17132T>G)
c.566A>C (p.Asn189Thr)
 dbSNP
9g.36246066T=CA1846375129CLTA,GNEc.674A= (p.Asn225=)
c.404A= (p.Asn135=)
c.581A= (p.Asn194=)
c.486-17132T= (n.486-17132T=)
c.566A= (p.Asn189=)
9g.36246067delCA2695210604CLTA,GNEc.674del (p.Asn225ThrfsTer5)
c.404del (p.Asn135ThrfsTer5)
c.581del (p.Asn194ThrfsTer5)
c.486-17131del (n.486-17131del)
c.566del (p.Asn189ThrfsTer5)
9g.36246067T>ACA373418049CLTA,GNEc.673A>T (p.Asn225Tyr)
c.403A>T (p.Asn135Tyr)
c.580A>T (p.Asn194Tyr)
c.486-17131T>A (n.486-17131T>A)
c.565A>T (p.Asn189Tyr)
9g.36246067T>CCA373418051CLTA,GNEc.673A>G (p.Asn225Asp)
c.403A>G (p.Asn135Asp)
c.580A>G (p.Asn194Asp)
c.486-17131T>C (n.486-17131T>C)
c.565A>G (p.Asn189Asp)
9g.36246067T>GCA373418053CLTA,GNEc.673A>C (p.Asn225His)
c.403A>C (p.Asn135His)
c.580A>C (p.Asn194His)
c.486-17131T>G (n.486-17131T>G)
c.565A>C (p.Asn189His)
9g.36246068C>ACA373418055CLTA,GNEc.672G>T (p.Lys224Asn)
c.402G>T (p.Lys134Asn)
c.579G>T (p.Lys193Asn)
c.486-17130C>A (n.486-17130C>A)
c.564G>T (p.Lys188Asn)
9g.36246068C>GCA373418056CLTA,GNEc.672G>C (p.Lys224Asn)
c.402G>C (p.Lys134Asn)
c.579G>C (p.Lys193Asn)
c.486-17130C>G (n.486-17130C>G)
c.564G>C (p.Lys188Asn)
9g.36246068C>TCA464619657CLTA,GNEc.672G>A (p.Lys224=)
c.402G>A (p.Lys134=)
c.579G>A (p.Lys193=)
c.486-17130C>T (n.486-17130C>T)
c.564G>A (p.Lys188=)
9g.36246069T>ACA373418059CLTA,GNEc.671A>T (p.Lys224Met)
c.401A>T (p.Lys134Met)
c.578A>T (p.Lys193Met)
c.486-17129T>A (n.486-17129T>A)
c.563A>T (p.Lys188Met)
9g.36246069T>CCA373418061CLTA,GNEc.671A>G (p.Lys224Arg)
c.401A>G (p.Lys134Arg)
c.578A>G (p.Lys193Arg)
c.486-17129T>C (n.486-17129T>C)
c.563A>G (p.Lys188Arg)
9g.36246069T>GCA373418063CLTA,GNEc.671A>C (p.Lys224Thr)
c.401A>C (p.Lys134Thr)
c.578A>C (p.Lys193Thr)
c.486-17129T>G (n.486-17129T>G)
c.563A>C (p.Lys188Thr)
9g.36246070T>ACA373418067CLTA,GNEc.670A>T (p.Lys224Ter)
c.400A>T (p.Lys134Ter)
c.577A>T (p.Lys193Ter)
c.486-17128T>A (n.486-17128T>A)
c.562A>T (p.Lys188Ter)
 dbSNP gnomAD v3 gnomAD v4
9g.36246070T>CCA373418069CLTA,GNEc.670A>G (p.Lys224Glu)
c.400A>G (p.Lys134Glu)
c.577A>G (p.Lys193Glu)
c.486-17128T>C (n.486-17128T>C)
c.562A>G (p.Lys188Glu)
9g.36246070T>GCA373418065CLTA,GNEc.670A>C (p.Lys224Gln)
c.400A>C (p.Lys134Gln)
c.577A>C (p.Lys193Gln)
c.486-17128T>G (n.486-17128T>G)
c.562A>C (p.Lys188Gln)
9g.36246070T=CA1846375135CLTA,GNEc.670A= (p.Lys224=)
c.400A= (p.Lys134=)
c.577A= (p.Lys193=)
c.486-17128T= (n.486-17128T=)
c.562A= (p.Lys188=)
9g.36246071G>ACA464619661CLTA,GNEc.669C>T (p.Ala223=)
c.399C>T (p.Ala133=)
c.576C>T (p.Ala192=)
c.486-17127G>A (n.486-17127G>A)
c.561C>T (p.Ala187=)
9g.36246071G>CCA464619663CLTA,GNEc.669C>G (p.Ala223=)
c.399C>G (p.Ala133=)
c.576C>G (p.Ala192=)
c.486-17127G>C (n.486-17127G>C)
c.561C>G (p.Ala187=)
9g.36246071G>TCA464619664CLTA,GNEc.669C>A (p.Ala223=)
c.399C>A (p.Ala133=)
c.576C>A (p.Ala192=)
c.486-17127G>T (n.486-17127G>T)
c.561C>A (p.Ala187=)
9g.36246072G>ACA373418071CLTA,GNEc.668C>T (p.Ala223Val)
c.398C>T (p.Ala133Val)
c.575C>T (p.Ala192Val)
c.486-17126G>A (n.486-17126G>A)
c.560C>T (p.Ala187Val)
 dbSNP gnomAD v4
9g.36246072G>CCA373418073CLTA,GNEc.668C>G (p.Ala223Gly)
c.398C>G (p.Ala133Gly)
c.575C>G (p.Ala192Gly)
c.486-17126G>C (n.486-17126G>C)
c.560C>G (p.Ala187Gly)
9g.36246072G=CA1846375142CLTA,GNEc.668C= (p.Ala223=)
c.398C= (p.Ala133=)
c.575C= (p.Ala192=)
c.486-17126G= (n.486-17126G=)
c.560C= (p.Ala187=)
9g.36246072G>TCA373418075CLTA,GNEc.668C>A (p.Ala223Asp)
c.398C>A (p.Ala133Asp)
c.575C>A (p.Ala192Asp)
c.486-17126G>T (n.486-17126G>T)
c.560C>A (p.Ala187Asp)
9g.36246073C>ACA373418078CLTA,GNEc.667G>T (p.Ala223Ser)
c.397G>T (p.Ala133Ser)
c.574G>T (p.Ala192Ser)
c.486-17125C>A (n.486-17125C>A)
c.559G>T (p.Ala187Ser)
9g.36246073C=CA1846375145CLTA,GNEc.667G= (p.Ala223=)
c.397G= (p.Ala133=)
c.574G= (p.Ala192=)
c.486-17125C= (n.486-17125C=)
c.559G= (p.Ala187=)
9g.36246073C>GCA373418079CLTA,GNEc.667G>C (p.Ala223Pro)
c.397G>C (p.Ala133Pro)
c.574G>C (p.Ala192Pro)
c.486-17125C>G (n.486-17125C>G)
c.559G>C (p.Ala187Pro)
9g.36246073C>TCA373418081CLTA,GNEc.667G>A (p.Ala223Thr)
c.397G>A (p.Ala133Thr)
c.574G>A (p.Ala192Thr)
c.486-17125C>T (n.486-17125C>T)
c.559G>A (p.Ala187Thr)
 ClinVar dbSNP COSMIC COSMIC COSMIC
9g.36246074T>ACA464619668CLTA,GNEc.666A>T (p.Ser222=)
c.396A>T (p.Ser132=)
c.573A>T (p.Ser191=)
c.486-17124T>A (n.486-17124T>A)
c.558A>T (p.Ser186=)
9g.36246074T>CCA464619669CLTA,GNEc.666A>G (p.Ser222=)
c.396A>G (p.Ser132=)
c.573A>G (p.Ser191=)
c.486-17124T>C (n.486-17124T>C)
c.558A>G (p.Ser186=)
9g.36246074T>GCA464619670CLTA,GNEc.666A>C (p.Ser222=)
c.396A>C (p.Ser132=)
c.573A>C (p.Ser191=)
c.486-17124T>G (n.486-17124T>G)
c.558A>C (p.Ser186=)
9g.36246075G>ACA373418084CLTA,GNEc.665C>T (p.Ser222Leu)
c.395C>T (p.Ser132Leu)
c.572C>T (p.Ser191Leu)
c.486-17123G>A (n.486-17123G>A)
c.557C>T (p.Ser186Leu)
 gnomAD v4
9g.36246075G>CCA373418085CLTA,GNEc.665C>G (p.Ser222Ter)
c.395C>G (p.Ser132Ter)
c.572C>G (p.Ser191Ter)
c.486-17123G>C (n.486-17123G>C)
c.557C>G (p.Ser186Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.36246075G=CA1846375151CLTA,GNEc.665C= (p.Ser222=)
c.395C= (p.Ser132=)
c.572C= (p.Ser191=)
c.486-17123G= (n.486-17123G=)
c.557C= (p.Ser186=)
9g.36246075G>TCA373418087CLTA,GNEc.665C>A (p.Ser222Ter)
c.395C>A (p.Ser132Ter)
c.572C>A (p.Ser191Ter)
c.486-17123G>T (n.486-17123G>T)
c.557C>A (p.Ser186Ter)
9g.36246079_36246080delCA2831039508CLTA,GNEc.664_665del (p.Ala223GlnfsTer15)
c.394_395del (p.Ala133GlnfsTer15)
c.571_572del (p.Ala192GlnfsTer15)
c.486-17119_486-17118del (n.486-17119_486-17118del)
c.394_395del (p.Ala133GlnfsTer28)
c.556_557del (p.Ala187GlnfsTer15)
c.664_665del (p.Ala223GlnfsTer28)
c.571_572del (p.Ala192GlnfsTer28)
9g.36246076A>CCA373418090CLTA,GNEc.664T>G (p.Ser222Ala)
c.394T>G (p.Ser132Ala)
c.571T>G (p.Ser191Ala)
c.486-17122A>C (n.486-17122A>C)
c.556T>G (p.Ser186Ala)
9g.36246076A>GCA373418091CLTA,GNEc.664T>C (p.Ser222Pro)
c.394T>C (p.Ser132Pro)
c.571T>C (p.Ser191Pro)
c.486-17122A>G (n.486-17122A>G)
c.556T>C (p.Ser186Pro)
 gnomAD v4
9g.36246076A>TCA373418093CLTA,GNEc.664T>A (p.Ser222Thr)
c.394T>A (p.Ser132Thr)
c.571T>A (p.Ser191Thr)
c.486-17122A>T (n.486-17122A>T)
c.556T>A (p.Ser186Thr)
9g.36246077G>ACA464619673CLTA,GNEc.663C>T (p.Leu221=)
c.393C>T (p.Leu131=)
c.570C>T (p.Leu190=)
c.486-17121G>A (n.486-17121G>A)
c.555C>T (p.Leu185=)
9g.36246077G>CCA464619674CLTA,GNEc.663C>G (p.Leu221=)
c.393C>G (p.Leu131=)
c.570C>G (p.Leu190=)
c.486-17121G>C (n.486-17121G>C)
c.555C>G (p.Leu185=)
 gnomAD v4
9g.36246077G>TCA464619676CLTA,GNEc.663C>A (p.Leu221=)
c.393C>A (p.Leu131=)
c.570C>A (p.Leu190=)
c.486-17121G>T (n.486-17121G>T)
c.555C>A (p.Leu185=)
9g.36246078A>CCA373418097CLTA,GNEc.662T>G (p.Leu221Arg)
c.392T>G (p.Leu131Arg)
c.569T>G (p.Leu190Arg)
c.486-17120A>C (n.486-17120A>C)
c.554T>G (p.Leu185Arg)
9g.36246078A>GCA373418100CLTA,GNEc.662T>C (p.Leu221Pro)
c.392T>C (p.Leu131Pro)
c.569T>C (p.Leu190Pro)
c.486-17120A>G (n.486-17120A>G)
c.554T>C (p.Leu185Pro)
9g.36246078A>TCA373418096CLTA,GNEc.662T>A (p.Leu221His)
c.392T>A (p.Leu131His)
c.569T>A (p.Leu190His)
c.486-17120A>T (n.486-17120A>T)
c.554T>A (p.Leu185His)
9g.36246079G>ACA10604401CLTA,GNEc.661C>T (p.Leu221Phe)
c.391C>T (p.Leu131Phe)
c.568C>T (p.Leu190Phe)
c.486-17119G>A (n.486-17119G>A)
c.553C>T (p.Leu185Phe)
 ClinVar dbSNP
9g.36246079G>CCA373418103CLTA,GNEc.661C>G (p.Leu221Val)
c.391C>G (p.Leu131Val)
c.568C>G (p.Leu190Val)
c.486-17119G>C (n.486-17119G>C)
c.553C>G (p.Leu185Val)
9g.36246079G=CA1846375174CLTA,GNEc.661C= (p.Leu221=)
c.391C= (p.Leu131=)
c.568C= (p.Leu190=)
c.486-17119G= (n.486-17119G=)
c.553C= (p.Leu185=)
9g.36246079G>TCA373418105CLTA,GNEc.661C>A (p.Leu221Ile)
c.391C>A (p.Leu131Ile)
c.568C>A (p.Leu190Ile)
c.486-17119G>T (n.486-17119G>T)
c.553C>A (p.Leu185Ile)
9g.36246080A>CCA464619683CLTA,GNEc.660T>G (p.Leu220=)
c.390T>G (p.Leu130=)
c.567T>G (p.Leu189=)
c.486-17118A>C (n.486-17118A>C)
c.552T>G (p.Leu184=)
9g.36246080A>GCA464619685CLTA,GNEc.660T>C (p.Leu220=)
c.390T>C (p.Leu130=)
c.567T>C (p.Leu189=)
c.486-17118A>G (n.486-17118A>G)
c.552T>C (p.Leu184=)
9g.36246080A>TCA464619687CLTA,GNEc.660T>A (p.Leu220=)
c.390T>A (p.Leu130=)
c.567T>A (p.Leu189=)
c.486-17118A>T (n.486-17118A>T)
c.552T>A (p.Leu184=)
9g.36246081A>CCA373418107CLTA,GNEc.659T>G (p.Leu220Arg)
c.389T>G (p.Leu130Arg)
c.566T>G (p.Leu189Arg)
c.486-17117A>C (n.486-17117A>C)
c.551T>G (p.Leu184Arg)
9g.36246081A>GCA373418109CLTA,GNEc.659T>C (p.Leu220Pro)
c.389T>C (p.Leu130Pro)
c.566T>C (p.Leu189Pro)
c.486-17117A>G (n.486-17117A>G)
c.551T>C (p.Leu184Pro)
 gnomAD v4
9g.36246081A>TCA373418111CLTA,GNEc.659T>A (p.Leu220His)
c.389T>A (p.Leu130His)
c.566T>A (p.Leu189His)
c.486-17117A>T (n.486-17117A>T)
c.551T>A (p.Leu184His)
9g.36246082G>ACA5056711CLTA,GNEc.658C>T (p.Leu220Phe)
c.388C>T (p.Leu130Phe)
c.565C>T (p.Leu189Phe)
c.486-17116G>A (n.486-17116G>A)
c.550C>T (p.Leu184Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246082G>CCA373418114CLTA,GNEc.658C>G (p.Leu220Val)
c.388C>G (p.Leu130Val)
c.565C>G (p.Leu189Val)
c.486-17116G>C (n.486-17116G>C)
c.550C>G (p.Leu184Val)
 gnomAD v4
9g.36246082G=CA1846375186CLTA,GNEc.658C= (p.Leu220=)
c.388C= (p.Leu130=)
c.565C= (p.Leu189=)
c.486-17116G= (n.486-17116G=)
c.550C= (p.Leu184=)
9g.36246082G>TCA373418115CLTA,GNEc.658C>A (p.Leu220Ile)
c.388C>A (p.Leu130Ile)
c.565C>A (p.Leu189Ile)
c.486-17116G>T (n.486-17116G>T)
c.550C>A (p.Leu184Ile)

Number of alleles fetched