Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.81646394_81649923delCA2580101946GBE1c.433_782+3del
c.310_659+3del
3g.81646407A>CCA353688022GBE1c.767T>G (p.Phe256Cys)
c.644T>G (p.Phe215Cys)
n.317T>G
3g.81646407A>GCA353688023GBE1c.767T>C (p.Phe256Ser)
c.644T>C (p.Phe215Ser)
n.317T>C
3g.81646407A>TCA353688024GBE1c.767T>A (p.Phe256Tyr)
c.644T>A (p.Phe215Tyr)
n.317T>A
3g.81646408A>CCA353688025GBE1c.766T>G (p.Phe256Val)
c.643T>G (p.Phe215Val)
n.316T>G
 COSMIC COSMIC
3g.81646408A>GCA353688026GBE1c.766T>C (p.Phe256Leu)
c.643T>C (p.Phe215Leu)
n.316T>C
3g.81646408A>TCA353688027GBE1c.766T>A (p.Phe256Ile)
c.643T>A (p.Phe215Ile)
n.316T>A
3g.81646409G>ACA434493949GBE1c.765C>T (p.Ser255=)
c.642C>T (p.Ser214=)
n.315C>T
 gnomAD v4
3g.81646409G>CCA353688028GBE1c.765C>G (p.Ser255Arg)
c.642C>G (p.Ser214Arg)
n.315C>G
 gnomAD v4
3g.81646409G>TCA353688029GBE1c.765C>A (p.Ser255Arg)
c.642C>A (p.Ser214Arg)
n.315C>A
 gnomAD v4
3g.81646410C>ACA353688030GBE1c.764G>T (p.Ser255Ile)
c.641G>T (p.Ser214Ile)
n.314G>T
3g.81646410C=CA1378729104GBE1c.764G= (p.Ser255=)
c.641G= (p.Ser214=)
n.314G=
3g.81646410C>GCA353688031GBE1c.764G>C (p.Ser255Thr)
c.641G>C (p.Ser214Thr)
n.314G>C
 gnomAD v4
3g.81646410C>TCA353688032GBE1c.764G>A (p.Ser255Asn)
c.641G>A (p.Ser214Asn)
n.314G>A
 dbSNP gnomAD v2 gnomAD v4
3g.81646411T>ACA353688033GBE1c.763A>T (p.Ser255Cys)
c.640A>T (p.Ser214Cys)
n.313A>T
3g.81646411T>CCA353688034GBE1c.763A>G (p.Ser255Gly)
c.640A>G (p.Ser214Gly)
n.313A>G
3g.81646411T>GCA353688035GBE1c.763A>C (p.Ser255Arg)
c.640A>C (p.Ser214Arg)
n.313A>C
3g.81646412T>ACA434493950GBE1c.762A>T (p.Thr254=)
c.639A>T (p.Thr213=)
n.312A>T
3g.81646412T>CCA434493951GBE1c.762A>G (p.Thr254=)
c.639A>G (p.Thr213=)
n.312A>G
 ClinVar
3g.81646412T>GCA434493952GBE1c.762A>C (p.Thr254=)
c.639A>C (p.Thr213=)
n.312A>C
3g.81646413G>ACA353688036GBE1c.761C>T (p.Thr254Ile)
c.638C>T (p.Thr213Ile)
n.311C>T
3g.81646413G>CCA353688038GBE1c.761C>G (p.Thr254Arg)
c.638C>G (p.Thr213Arg)
n.311C>G
3g.81646413G>TCA353688037GBE1c.761C>A (p.Thr254Lys)
c.638C>A (p.Thr213Lys)
n.311C>A
3g.81646414T>ACA353688039GBE1c.760A>T (p.Thr254Ser)
c.637A>T (p.Thr213Ser)
n.310A>T
3g.81646414T>CCA2499872GBE1c.760A>G (p.Thr254Ala)
c.637A>G (p.Thr213Ala)
n.310A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.81646414T>GCA353688040GBE1c.760A>C (p.Thr254Pro)
c.637A>C (p.Thr213Pro)
n.310A>C
3g.81646414T=CA1378729105GBE1c.760A= (p.Thr254=)
c.637A= (p.Thr213=)
n.310A=
3g.81646415G>ACA434493953GBE1c.759C>T (p.Ile253=)
c.636C>T (p.Ile212=)
n.309C>T
3g.81646415G>CCA353688041GBE1c.759C>G (p.Ile253Met)
c.636C>G (p.Ile212Met)
n.309C>G
3g.81646415G>TCA434493954GBE1c.759C>A (p.Ile253=)
c.636C>A (p.Ile212=)
n.309C>A
3g.81646416A>CCA353688042GBE1c.758T>G (p.Ile253Ser)
c.635T>G (p.Ile212Ser)
n.308T>G
3g.81646416A>GCA353688043GBE1c.758T>C (p.Ile253Thr)
c.635T>C (p.Ile212Thr)
n.308T>C
3g.81646416A>TCA353688044GBE1c.758T>A (p.Ile253Asn)
c.635T>A (p.Ile212Asn)
n.308T>A
3g.81646417T>ACA353688045GBE1c.757A>T (p.Ile253Phe)
c.634A>T (p.Ile212Phe)
n.307A>T
3g.81646417T>CCA353688046GBE1c.757A>G (p.Ile253Val)
c.634A>G (p.Ile212Val)
n.307A>G
 ClinVar dbSNP
3g.81646417T>GCA353688047GBE1c.757A>C (p.Ile253Leu)
c.634A>C (p.Ile212Leu)
n.307A>C
3g.81646418T>ACA353688048GBE1c.756A>T (p.Gln252His)
c.633A>T (p.Gln211His)
n.306A>T
3g.81646418T>CCA434493955GBE1c.756A>G (p.Gln252=)
c.633A>G (p.Gln211=)
n.306A>G
3g.81646418T>GCA353688049GBE1c.756A>C (p.Gln252His)
c.633A>C (p.Gln211His)
n.306A>C
3g.81646418_81646419delinsGCA2695197944GBE1c.755_756delinsC (p.Gln252ProfsTer22)
c.632_633delinsC (p.Gln211ProfsTer22)
n.305_306delinsC
 ClinVar
3g.81646419T>ACA353688050GBE1c.755A>T (p.Gln252Leu)
c.632A>T (p.Gln211Leu)
n.305A>T
3g.81646419T>CCA353688052GBE1c.755A>G (p.Gln252Arg)
c.632A>G (p.Gln211Arg)
n.305A>G
 gnomAD v4
3g.81646419T>GCA353688051GBE1c.755A>C (p.Gln252Pro)
c.632A>C (p.Gln211Pro)
n.305A>C
3g.81646420G>ACA353688053GBE1c.754C>T (p.Gln252Ter)
c.631C>T (p.Gln211Ter)
n.304C>T
 ClinVar
3g.81646420G>CCA353688054GBE1c.754C>G (p.Gln252Glu)
c.631C>G (p.Gln211Glu)
n.304C>G
3g.81646420G>TCA353688055GBE1c.754C>A (p.Gln252Lys)
c.631C>A (p.Gln211Lys)
n.304C>A
 gnomAD v4
3g.81646421G>ACA434493956GBE1c.753C>T (p.Tyr251=)
c.630C>T (p.Tyr210=)
n.303C>T
3g.81646421G>CCA353688056GBE1c.753C>G (p.Tyr251Ter)
c.630C>G (p.Tyr210Ter)
n.303C>G
 ClinVar
3g.81646421G=CA1378729106GBE1c.753C= (p.Tyr251=)
c.630C= (p.Tyr210=)
n.303C=
3g.81646421G>TCA353688057GBE1c.753C>A (p.Tyr251Ter)
c.630C>A (p.Tyr210Ter)
n.303C>A
 dbSNP
3g.81646422T>ACA353688060GBE1c.752A>T (p.Tyr251Phe)
c.629A>T (p.Tyr210Phe)
n.302A>T
3g.81646422T>CCA353688059GBE1c.752A>G (p.Tyr251Cys)
c.629A>G (p.Tyr210Cys)
n.302A>G
3g.81646422T>GCA353688058GBE1c.752A>C (p.Tyr251Ser)
c.629A>C (p.Tyr210Ser)
n.302A>C
3g.81646423A>CCA353688061GBE1c.751T>G (p.Tyr251Asp)
c.628T>G (p.Tyr210Asp)
n.301T>G
3g.81646423A>GCA353688062GBE1c.751T>C (p.Tyr251His)
c.628T>C (p.Tyr210His)
n.301T>C
3g.81646423A>TCA353688063GBE1c.751T>A (p.Tyr251Asn)
c.628T>A (p.Tyr210Asn)
n.301T>A
3g.81646424A>CCA434493957GBE1c.750T>G (p.Gly250=)
c.627T>G (p.Gly209=)
n.300T>G
3g.81646424A>GCA434493959GBE1c.750T>C (p.Gly250=)
c.627T>C (p.Gly209=)
n.300T>C
3g.81646424A>TCA434493958GBE1c.750T>A (p.Gly250=)
c.627T>A (p.Gly209=)
n.300T>A
3g.81646425C>ACA353688064GBE1c.749G>T (p.Gly250Val)
c.626G>T (p.Gly209Val)
n.299G>T
3g.81646425C>GCA353688065GBE1c.749G>C (p.Gly250Ala)
c.626G>C (p.Gly209Ala)
n.299G>C
 COSMIC COSMIC
3g.81646425C>TCA353688066GBE1c.749G>A (p.Gly250Asp)
c.626G>A (p.Gly209Asp)
n.299G>A
3g.81646426C>ACA353688067GBE1c.748G>T (p.Gly250Cys)
c.625G>T (p.Gly209Cys)
n.298G>T
 ClinVar
3g.81646426C>GCA353688069GBE1c.748G>C (p.Gly250Arg)
c.625G>C (p.Gly209Arg)
n.298G>C
3g.81646426C>TCA353688068GBE1c.748G>A (p.Gly250Ser)
c.625G>A (p.Gly209Ser)
n.298G>A
3g.81646427A>CCA353688070GBE1c.747T>G (p.Phe249Leu)
c.624T>G (p.Phe208Leu)
n.297T>G
3g.81646427A>GCA434493960GBE1c.747T>C (p.Phe249=)
c.624T>C (p.Phe208=)
n.297T>C
3g.81646427A>TCA353688071GBE1c.747T>A (p.Phe249Leu)
c.624T>A (p.Phe208Leu)
n.297T>A
3g.81646428A=CA1378729107GBE1c.746T= (p.Phe249=)
c.623T= (p.Phe208=)
n.296T=
3g.81646428A>CCA353688072GBE1c.746T>G (p.Phe249Cys)
c.623T>G (p.Phe208Cys)
n.296T>G
 COSMIC COSMIC
3g.81646428A>GCA353688073GBE1c.746T>C (p.Phe249Ser)
c.623T>C (p.Phe208Ser)
n.296T>C
 dbSNP gnomAD v2 gnomAD v4
3g.81646428A>TCA353688074GBE1c.746T>A (p.Phe249Tyr)
c.623T>A (p.Phe208Tyr)
n.296T>A
3g.81646429A=CA1378729108GBE1c.745T= (p.Phe249=)
c.622T= (p.Phe208=)
n.295T=
3g.81646429A>CCA353688075GBE1c.745T>G (p.Phe249Val)
c.622T>G (p.Phe208Val)
n.295T>G
3g.81646429A>GCA353688076GBE1c.745T>C (p.Phe249Leu)
c.622T>C (p.Phe208Leu)
n.295T>C
 dbSNP gnomAD v3 gnomAD v4
3g.81646429A>TCA353688077GBE1c.745T>A (p.Phe249Ile)
c.622T>A (p.Phe208Ile)
n.295T>A
3g.81646430G>ACA434493961GBE1c.744C>T (p.Ser248=)
c.621C>T (p.Ser207=)
n.294C>T
3g.81646430G>CCA2499873GBE1c.744C>G (p.Ser248Arg)
c.621C>G (p.Ser207Arg)
n.294C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.81646430G=CA1378729109GBE1c.744C= (p.Ser248=)
c.621C= (p.Ser207=)
n.294C=
3g.81646430G>TCA353688078GBE1c.744C>A (p.Ser248Arg)
c.621C>A (p.Ser207Arg)
n.294C>A
3g.81646431C>ACA353688079GBE1c.743G>T (p.Ser248Ile)
c.620G>T (p.Ser207Ile)
n.293G>T
3g.81646431C>GCA353688081GBE1c.743G>C (p.Ser248Thr)
c.620G>C (p.Ser207Thr)
n.293G>C
3g.81646431C>TCA353688080GBE1c.743G>A (p.Ser248Asn)
c.620G>A (p.Ser207Asn)
n.293G>A
3g.81646432T>ACA353688082GBE1c.742A>T (p.Ser248Cys)
c.619A>T (p.Ser207Cys)
n.292A>T
3g.81646432T>CCA353688084GBE1c.742A>G (p.Ser248Gly)
c.619A>G (p.Ser207Gly)
n.292A>G
3g.81646432T>GCA353688083GBE1c.742A>C (p.Ser248Arg)
c.619A>C (p.Ser207Arg)
n.292A>C
3g.81646433G>ACA434493962GBE1c.741C>T (p.Ala247=)
c.618C>T (p.Ala206=)
n.291C>T
 gnomAD v4
3g.81646433G>CCA434493963GBE1c.741C>G (p.Ala247=)
c.618C>G (p.Ala206=)
n.291C>G
3g.81646433G>TCA434493964GBE1c.741C>A (p.Ala247=)
c.618C>A (p.Ala206=)
n.291C>A
3g.81646434delCA2666623889GBE1c.741del (p.Ser248AlafsTer26)
c.618del (p.Ser207AlafsTer26)
n.291del
 gnomAD v4
3g.81646434G>ACA353688085GBE1c.740C>T (p.Ala247Val)
c.617C>T (p.Ala206Val)
n.290C>T
 COSMIC COSMIC
3g.81646434G>CCA353688086GBE1c.740C>G (p.Ala247Gly)
c.617C>G (p.Ala206Gly)
n.290C>G
 gnomAD v4
3g.81646434G>TCA353688087GBE1c.740C>A (p.Ala247Asp)
c.617C>A (p.Ala206Asp)
n.290C>A
3g.81646435C>ACA353688088GBE1c.739G>T (p.Ala247Ser)
c.616G>T (p.Ala206Ser)
n.289G>T
3g.81646435C>GCA353688089GBE1c.739G>C (p.Ala247Pro)
c.616G>C (p.Ala206Pro)
n.289G>C
3g.81646435C>TCA353688090GBE1c.739G>A (p.Ala247Thr)
c.616G>A (p.Ala206Thr)
n.289G>A
 dbSNP gnomAD v3 gnomAD v4
3g.81646436A=CA1378729110GBE1c.738T= (p.Tyr246=)
c.615T= (p.Tyr205=)
n.288T=
3g.81646436A>CCA353688091GBE1c.738T>G (p.Tyr246Ter)
c.615T>G (p.Tyr205Ter)
n.288T>G
3g.81646436A>GCA434493965GBE1c.738T>C (p.Tyr246=)
c.615T>C (p.Tyr205=)
n.288T>C
 dbSNP
3g.81646436A>TCA353688092GBE1c.738T>A (p.Tyr246Ter)
c.615T>A (p.Tyr205Ter)
n.288T>A
3g.81646437T>ACA353688093GBE1c.737A>T (p.Tyr246Phe)
c.614A>T (p.Tyr205Phe)
n.287A>T
3g.81646437T>CCA353688094GBE1c.737A>G (p.Tyr246Cys)
c.614A>G (p.Tyr205Cys)
n.287A>G
3g.81646437T>GCA353688095GBE1c.737A>C (p.Tyr246Ser)
c.614A>C (p.Tyr205Ser)
n.287A>C
 dbSNP
3g.81646437T=CA1378729111GBE1c.737A= (p.Tyr246=)
c.614A= (p.Tyr205=)
n.287A=
3g.81646438A>CCA353688096GBE1c.736T>G (p.Tyr246Asp)
c.613T>G (p.Tyr205Asp)
n.286T>G
3g.81646438A>GCA353688097GBE1c.736T>C (p.Tyr246His)
c.613T>C (p.Tyr205His)
n.286T>C
3g.81646438A>TCA353688098GBE1c.736T>A (p.Tyr246Asn)
c.613T>A (p.Tyr205Asn)
n.286T>A
3g.81646439G>ACA434493966GBE1c.735C>T (p.Tyr245=)
c.612C>T (p.Tyr204=)
n.285C>T
 dbSNP gnomAD v4
3g.81646439G>CCA353688099GBE1c.735C>G (p.Tyr245Ter)
c.612C>G (p.Tyr204Ter)
n.285C>G
3g.81646439G=CA1378729112GBE1c.735C= (p.Tyr245=)
c.612C= (p.Tyr204=)
n.285C=
3g.81646439G>TCA353688100GBE1c.735C>A (p.Tyr245Ter)
c.612C>A (p.Tyr204Ter)
n.285C>A
3g.81646440T>ACA353688101GBE1c.734A>T (p.Tyr245Phe)
c.611A>T (p.Tyr204Phe)
n.284A>T
3g.81646440T>CCA353688102GBE1c.734A>G (p.Tyr245Cys)
c.611A>G (p.Tyr204Cys)
n.284A>G
3g.81646440T>GCA353688103GBE1c.734A>C (p.Tyr245Ser)
c.611A>C (p.Tyr204Ser)
n.284A>C
3g.81646441A>CCA353688104GBE1c.733T>G (p.Tyr245Asp)
c.610T>G (p.Tyr204Asp)
n.283T>G
 gnomAD v4
3g.81646441A>GCA353688105GBE1c.733T>C (p.Tyr245His)
c.610T>C (p.Tyr204His)
n.283T>C
 ClinVar dbSNP gnomAD v4
3g.81646441A>TCA353688106GBE1c.733T>A (p.Tyr245Asn)
c.610T>A (p.Tyr204Asn)
n.283T>A
3g.81646442A>CCA434493967GBE1c.732T>G (p.Ala244=)
c.609T>G (p.Ala203=)
n.282T>G
3g.81646442A>GCA434493968GBE1c.732T>C (p.Ala244=)
c.609T>C (p.Ala203=)
n.282T>C
3g.81646442A>TCA434493969GBE1c.732T>A (p.Ala244=)
c.609T>A (p.Ala203=)
n.282T>A
3g.81646443G>ACA353688107GBE1c.731C>T (p.Ala244Val)
c.608C>T (p.Ala203Val)
n.281C>T
 dbSNP
3g.81646443G>CCA353688108GBE1c.731C>G (p.Ala244Gly)
c.608C>G (p.Ala203Gly)
n.281C>G
 gnomAD v4
3g.81646443G=CA1378729113GBE1c.731C= (p.Ala244=)
c.608C= (p.Ala203=)
n.281C=
3g.81646443G>TCA353688109GBE1c.731C>A (p.Ala244Asp)
c.608C>A (p.Ala203Asp)
n.281C>A
3g.81646444C>ACA353688110GBE1c.730G>T (p.Ala244Ser)
c.607G>T (p.Ala203Ser)
n.280G>T
3g.81646444C>GCA353688111GBE1c.730G>C (p.Ala244Pro)
c.607G>C (p.Ala203Pro)
n.280G>C
3g.81646444C>TCA353688112GBE1c.730G>A (p.Ala244Thr)
c.607G>A (p.Ala203Thr)
n.280G>A
 gnomAD v4
3g.81646445A>CCA353688114GBE1c.729T>G (p.His243Gln)
c.606T>G (p.His202Gln)
n.279T>G
3g.81646445A>GCA434493970GBE1c.729T>C (p.His243=)
c.606T>C (p.His202=)
n.279T>C
3g.81646445A>TCA353688113GBE1c.729T>A (p.His243Gln)
c.606T>A (p.His202Gln)
n.279T>A
3g.81646446T>ACA353688115GBE1c.728A>T (p.His243Leu)
c.605A>T (p.His202Leu)
n.278A>T
 gnomAD v4
3g.81646446T>CCA353688116GBE1c.728A>G (p.His243Arg)
c.605A>G (p.His202Arg)
n.278A>G
3g.81646446T>GCA353688117GBE1c.728A>C (p.His243Pro)
c.605A>C (p.His202Pro)
n.278A>C
3g.81646447G>ACA353688118GBE1c.727C>T (p.His243Tyr)
c.604C>T (p.His202Tyr)
n.277C>T
3g.81646447G>CCA353688119GBE1c.727C>G (p.His243Asp)
c.604C>G (p.His202Asp)
n.277C>G
3g.81646447G>TCA353688120GBE1c.727C>A (p.His243Asn)
c.604C>A (p.His202Asn)
n.277C>A
 gnomAD v4
3g.81646448C>ACA353688122GBE1c.726G>T (p.Glu242Asp)
c.603G>T (p.Glu201Asp)
n.276G>T
 gnomAD v4
3g.81646448C>GCA353688121GBE1c.726G>C (p.Glu242Asp)
c.603G>C (p.Glu201Asp)
n.276G>C
3g.81646448C>TCA434493971GBE1c.726G>A (p.Glu242=)
c.603G>A (p.Glu201=)
n.276G>A
3g.81646449T>ACA353688123GBE1c.725A>T (p.Glu242Val)
c.602A>T (p.Glu201Val)
n.275A>T
3g.81646449T>CCA353688124GBE1c.725A>G (p.Glu242Gly)
c.602A>G (p.Glu201Gly)
n.275A>G
 gnomAD v4
3g.81646449T>GCA353688125GBE1c.725A>C (p.Glu242Ala)
c.602A>C (p.Glu201Ala)
n.275A>C
3g.81646450C>ACA353688126GBE1c.724G>T (p.Glu242Ter)
c.601G>T (p.Glu201Ter)
n.274G>T
3g.81646450C=CA1378729114GBE1c.724G= (p.Glu242=)
c.601G= (p.Glu201=)
n.274G=
3g.81646450C>GCA353688127GBE1c.724G>C (p.Glu242Gln)
c.601G>C (p.Glu201Gln)
n.274G>C
 gnomAD v4
3g.81646450C>TCA353688128GBE1c.724G>A (p.Glu242Lys)
c.601G>A (p.Glu201Lys)
n.274G>A
 dbSNP gnomAD v4
3g.81646451C>ACA353688131GBE1c.723G>T (p.Met241Ile)
c.600G>T (p.Met200Ile)
n.273G>T
 dbSNP
3g.81646451C=CA1378729115GBE1c.723G= (p.Met241=)
c.600G= (p.Met200=)
n.273G=
3g.81646451C>GCA353688129GBE1c.723G>C (p.Met241Ile)
c.600G>C (p.Met200Ile)
n.273G>C
3g.81646451C>TCA353688130GBE1c.723G>A (p.Met241Ile)
c.600G>A (p.Met200Ile)
n.273G>A
 gnomAD v4
3g.81646452A=CA1378729116GBE1c.722T= (p.Met241=)
c.599T= (p.Met200=)
n.272T=
3g.81646452A>CCA353688132GBE1c.722T>G (p.Met241Arg)
c.599T>G (p.Met200Arg)
n.272T>G
3g.81646452A>GCA353688133GBE1c.722T>C (p.Met241Thr)
c.599T>C (p.Met200Thr)
n.272T>C
 dbSNP gnomAD v2 gnomAD v4
3g.81646452A>TCA353688134GBE1c.722T>A (p.Met241Lys)
c.599T>A (p.Met200Lys)
n.272T>A
3g.81646453T>ACA353688135GBE1c.721A>T (p.Met241Leu)
c.598A>T (p.Met200Leu)
n.271A>T
 dbSNP gnomAD v3 gnomAD v4
3g.81646453T>CCA2499874GBE1c.721A>G (p.Met241Val)
c.598A>G (p.Met200Val)
n.271A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.81646453T>GCA353688136GBE1c.721A>C (p.Met241Leu)
c.598A>C (p.Met200Leu)
n.271A>C
3g.81646453T=CA1378729117GBE1c.721A= (p.Met241=)
c.598A= (p.Met200=)
n.271A=
3g.81646454G>ACA434493972GBE1c.720C>T (p.Ile240=)
c.597C>T (p.Ile199=)
n.270C>T
 ClinVar
3g.81646454G>CCA353688137GBE1c.720C>G (p.Ile240Met)
c.597C>G (p.Ile199Met)
n.270C>G
3g.81646454G>TCA434493973GBE1c.720C>A (p.Ile240=)
c.597C>A (p.Ile199=)
n.270C>A
3g.81646454_81646455delinsGACA1378729118GBE1c.719_720delinsTC (p.Ile240=)
c.596_597delinsTC (p.Ile199=)
n.269_270delinsTC
3g.81646455delCA911022032GBE1c.719del (p.Ile240ThrfsTer?)
c.596del (p.Ile199ThrfsTer?)
n.269del
 dbSNP
3g.81646455A>CCA353688138GBE1c.719T>G (p.Ile240Ser)
c.596T>G (p.Ile199Ser)
n.269T>G
3g.81646455A>GCA353688139GBE1c.719T>C (p.Ile240Thr)
c.596T>C (p.Ile199Thr)
n.269T>C
3g.81646455A>TCA353688140GBE1c.719T>A (p.Ile240Asn)
c.596T>A (p.Ile199Asn)
n.269T>A
3g.81646456T>ACA353688141GBE1c.718A>T (p.Ile240Phe)
c.595A>T (p.Ile199Phe)
n.268A>T
3g.81646456T>CCA78292184GBE1c.718A>G (p.Ile240Val)
c.595A>G (p.Ile199Val)
n.268A>G
 ClinVar dbSNP gnomAD v4
3g.81646456T>GCA353688142GBE1c.718A>C (p.Ile240Leu)
c.595A>C (p.Ile199Leu)
n.268A>C
 dbSNP gnomAD v2 gnomAD v4
3g.81646456T=CA1378729119GBE1c.718A= (p.Ile240=)
c.595A= (p.Ile199=)
n.268A=
3g.81646457T>ACA434493975GBE1c.717A>T (p.Ala239=)
c.594A>T (p.Ala198=)
n.267A>T
 gnomAD v4
3g.81646457T>CCA434493976GBE1c.717A>G (p.Ala239=)
c.594A>G (p.Ala198=)
n.267A>G
3g.81646457T>GCA434493977GBE1c.717A>C (p.Ala239=)
c.594A>C (p.Ala198=)
n.267A>C
3g.81646458G>ACA353688143GBE1c.716C>T (p.Ala239Val)
c.593C>T (p.Ala198Val)
n.266C>T
 gnomAD v4
3g.81646458G>CCA353688145GBE1c.716C>G (p.Ala239Gly)
c.593C>G (p.Ala198Gly)
n.266C>G
3g.81646458G>TCA353688144GBE1c.716C>A (p.Ala239Glu)
c.593C>A (p.Ala198Glu)
n.266C>A
3g.81646459C>ACA353688146GBE1c.715G>T (p.Ala239Ser)
c.592G>T (p.Ala198Ser)
n.265G>T
3g.81646459C>GCA353688148GBE1c.715G>C (p.Ala239Pro)
c.592G>C (p.Ala198Pro)
n.265G>C
3g.81646459C>TCA353688147GBE1c.715G>A (p.Ala239Thr)
c.592G>A (p.Ala198Thr)
n.265G>A
 gnomAD v4
3g.81646460C>ACA353688149GBE1c.714G>T (p.Met238Ile)
c.591G>T (p.Met197Ile)
n.264G>T
3g.81646460C=CA1378729120GBE1c.714G= (p.Met238=)
c.591G= (p.Met197=)
n.264G=
3g.81646460C>GCA353688150GBE1c.714G>C (p.Met238Ile)
c.591G>C (p.Met197Ile)
n.264G>C
3g.81646460C>TCA2499875GBE1c.714G>A (p.Met238Ile)
c.591G>A (p.Met197Ile)
n.264G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.81646461A=CA1378729121GBE1c.713T= (p.Met238=)
c.590T= (p.Met197=)
n.263T=
3g.81646461A>CCA353688151GBE1c.713T>G (p.Met238Arg)
c.590T>G (p.Met197Arg)
n.263T>G
 dbSNP
3g.81646461A>GCA353688152GBE1c.713T>C (p.Met238Thr)
c.590T>C (p.Met197Thr)
n.263T>C
 ClinVar
3g.81646461A>TCA353688153GBE1c.713T>A (p.Met238Lys)
c.590T>A (p.Met197Lys)
n.263T>A
3g.81646462T>ACA353688154GBE1c.712A>T (p.Met238Leu)
c.589A>T (p.Met197Leu)
n.262A>T
 COSMIC COSMIC
3g.81646462T>CCA353688155GBE1c.712A>G (p.Met238Val)
c.589A>G (p.Met197Val)
n.262A>G
 gnomAD v4
3g.81646462T>GCA353688156GBE1c.712A>C (p.Met238Leu)
c.589A>C (p.Met197Leu)
n.262A>C
3g.81646463C>ACA353688157GBE1c.711G>T (p.Leu237Phe)
c.588G>T (p.Leu196Phe)
n.261G>T
3g.81646463C>GCA353688158GBE1c.711G>C (p.Leu237Phe)
c.588G>C (p.Leu196Phe)
n.261G>C
3g.81646463C>TCA434493978GBE1c.711G>A (p.Leu237=)
c.588G>A (p.Leu196=)
n.261G>A
3g.81646464A>CCA353688161GBE1c.710T>G (p.Leu237Trp)
c.587T>G (p.Leu196Trp)
n.260T>G
3g.81646464A>GCA353688160GBE1c.710T>C (p.Leu237Ser)
c.587T>C (p.Leu196Ser)
n.260T>C
3g.81646464A>TCA353688159GBE1c.710T>A (p.Leu237Ter)
c.587T>A (p.Leu196Ter)
n.260T>A
3g.81646465A=CA1378729122GBE1c.709T= (p.Leu237=)
c.586T= (p.Leu196=)
n.259T=
3g.81646465A>CCA353688162GBE1c.709T>G (p.Leu237Val)
c.586T>G (p.Leu196Val)
n.259T>G
3g.81646465A>GCA10586876GBE1c.709T>C (p.Leu237=)
c.586T>C (p.Leu196=)
n.259T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.81646465A>TCA353688163GBE1c.709T>A (p.Leu237Met)
c.586T>A (p.Leu196Met)
n.259T>A
3g.81646466C>ACA353688164GBE1c.708G>T (p.Gln236His)
c.585G>T (p.Gln195His)
n.258G>T
 gnomAD v4
3g.81646466C=CA1378729123GBE1c.708G= (p.Gln236=)
c.585G= (p.Gln195=)
n.258G=
3g.81646466C>GCA115762GBE1c.708G>C (p.Gln236His)
c.585G>C (p.Gln195His)
n.258G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.81646466C>TCA434493979GBE1c.708G>A (p.Gln236=)
c.585G>A (p.Gln195=)
n.258G>A
 ClinVar
3g.81646467T>ACA353688165GBE1c.707A>T (p.Gln236Leu)
c.584A>T (p.Gln195Leu)
n.257A>T
3g.81646467T>CCA353688166GBE1c.707A>G (p.Gln236Arg)
c.584A>G (p.Gln195Arg)
n.257A>G
 dbSNP gnomAD v3 gnomAD v4
3g.81646467T>GCA353688167GBE1c.707A>C (p.Gln236Pro)
c.584A>C (p.Gln195Pro)
n.257A>C
3g.81646467T=CA1378729124GBE1c.707A= (p.Gln236=)
c.584A= (p.Gln195=)
n.257A=
3g.81646468G>ACA2499876GBE1c.706C>T (p.Gln236Ter)
c.583C>T (p.Gln195Ter)
n.256C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.81646468G>CCA353688168GBE1c.706C>G (p.Gln236Glu)
c.583C>G (p.Gln195Glu)
n.256C>G
3g.81646468G=CA1378729125GBE1c.706C= (p.Gln236=)
c.583C= (p.Gln195=)
n.256C=
3g.81646468G>TCA353688169GBE1c.706C>A (p.Gln236Lys)
c.583C>A (p.Gln195Lys)
n.256C>A
 gnomAD v4
3g.81646469A>CCA353688170GBE1c.705T>G (p.Ile235Met)
c.582T>G (p.Ile194Met)
n.255T>G
 gnomAD v4
3g.81646469A>GCA434493980GBE1c.705T>C (p.Ile235=)
c.582T>C (p.Ile194=)
n.255T>C
3g.81646469A>TCA434493981GBE1c.705T>A (p.Ile235=)
c.582T>A (p.Ile194=)
n.255T>A
3g.81646470A>CCA353688173GBE1c.704T>G (p.Ile235Ser)
c.581T>G (p.Ile194Ser)
n.254T>G
3g.81646470A>GCA353688172GBE1c.704T>C (p.Ile235Thr)
c.581T>C (p.Ile194Thr)
n.254T>C
3g.81646470A>TCA353688171GBE1c.704T>A (p.Ile235Asn)
c.581T>A (p.Ile194Asn)
n.254T>A
3g.81646471T>ACA353688174GBE1c.703A>T (p.Ile235Phe)
c.580A>T (p.Ile194Phe)
n.253A>T
3g.81646471T>CCA353688175GBE1c.703A>G (p.Ile235Val)
c.580A>G (p.Ile194Val)
n.253A>G
 dbSNP
3g.81646471T>GCA353688176GBE1c.703A>C (p.Ile235Leu)
c.580A>C (p.Ile194Leu)
n.253A>C
3g.81646471T=CA1378729126GBE1c.703A= (p.Ile235=)
c.580A= (p.Ile194=)
n.253A=
3g.81646472G>ACA434493983GBE1c.702C>T (p.Cys234=)
c.579C>T (p.Cys193=)
n.252C>T
 gnomAD v4
3g.81646472G>CCA353688177GBE1c.702C>G (p.Cys234Trp)
c.579C>G (p.Cys193Trp)
n.252C>G
3g.81646472G>TCA353688178GBE1c.702C>A (p.Cys234Ter)
c.579C>A (p.Cys193Ter)
n.252C>A
 gnomAD v4
3g.81646473C>ACA353688179GBE1c.701G>T (p.Cys234Phe)
c.578G>T (p.Cys193Phe)
n.251G>T
3g.81646473C=CA1378729127GBE1c.701G= (p.Cys234=)
c.578G= (p.Cys193=)
n.251G=
3g.81646473C>GCA353688180GBE1c.701G>C (p.Cys234Ser)
c.578G>C (p.Cys193Ser)
n.251G>C
3g.81646473C>TCA2499877GBE1c.701G>A (p.Cys234Tyr)
c.578G>A (p.Cys193Tyr)
n.251G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.81646474A>CCA353688181GBE1c.700T>G (p.Cys234Gly)
c.577T>G (p.Cys193Gly)
n.250T>G
3g.81646474A>GCA353688182GBE1c.700T>C (p.Cys234Arg)
c.577T>C (p.Cys193Arg)
n.250T>C
 gnomAD v4
3g.81646474A>TCA353688183GBE1c.700T>A (p.Cys234Ser)
c.577T>A (p.Cys193Ser)
n.250T>A
3g.81646475G>ACA434493984GBE1c.699C>T (p.Asn233=)
c.576C>T (p.Asn192=)
n.249C>T
 gnomAD v4
3g.81646475G>CCA353688184GBE1c.699C>G (p.Asn233Lys)
c.576C>G (p.Asn192Lys)
n.249C>G
3g.81646475G>TCA353688185GBE1c.699C>A (p.Asn233Lys)
c.576C>A (p.Asn192Lys)
n.249C>A
 gnomAD v4
3g.81646476_81646492delCA2666623890GBE1c.692-9_699del
c.569-9_576del
n.233_249del
 gnomAD v4
3g.81646476T>ACA353688187GBE1c.698A>T (p.Asn233Ile)
c.575A>T (p.Asn192Ile)
n.248A>T
3g.81646476T>CCA78292185GBE1c.698A>G (p.Asn233Ser)
c.575A>G (p.Asn192Ser)
n.248A>G
 dbSNP gnomAD v2 gnomAD v4
3g.81646476T>GCA353688186GBE1c.698A>C (p.Asn233Thr)
c.575A>C (p.Asn192Thr)
n.248A>C
 gnomAD v4
3g.81646476T=CA1378729128GBE1c.698A= (p.Asn233=)
c.575A= (p.Asn192=)
n.248A=
3g.81646477T>ACA353688188GBE1c.697A>T (p.Asn233Tyr)
c.574A>T (p.Asn192Tyr)
n.247A>T
3g.81646477T>CCA353688189GBE1c.697A>G (p.Asn233Asp)
c.574A>G (p.Asn192Asp)
n.247A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.81646477T>GCA353688190GBE1c.697A>C (p.Asn233His)
c.574A>C (p.Asn192His)
n.247A>C
3g.81646477T=CA1378729129GBE1c.697A= (p.Asn233=)
c.574A= (p.Asn192=)
n.247A=
3g.81646478G>ACA2499878GBE1c.696C>T (p.Tyr232=)
c.573C>T (p.Tyr191=)
n.246C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.81646478G>CCA353688191GBE1c.696C>G (p.Tyr232Ter)
c.573C>G (p.Tyr191Ter)
n.246C>G
3g.81646478G=CA1378729130GBE1c.696C= (p.Tyr232=)
c.573C= (p.Tyr191=)
n.246C=
3g.81646478G>TCA353688192GBE1c.696C>A (p.Tyr232Ter)
c.573C>A (p.Tyr191Ter)
n.246C>A
 dbSNP gnomAD v4
3g.81646479delCA2666623891GBE1c.695del (p.Tyr232SerfsTer6)
c.572del (p.Tyr191SerfsTer6)
n.245del
 gnomAD v4
3g.81646479T>ACA353688193GBE1c.695A>T (p.Tyr232Phe)
c.572A>T (p.Tyr191Phe)
n.245A>T
3g.81646479T>CCA353688194GBE1c.695A>G (p.Tyr232Cys)
c.572A>G (p.Tyr191Cys)
n.245A>G
 gnomAD v4
3g.81646479T>GCA353688195GBE1c.695A>C (p.Tyr232Ser)
c.572A>C (p.Tyr191Ser)
n.245A>C
3g.81646480A>CCA353688196GBE1c.694T>G (p.Tyr232Asp)
c.571T>G (p.Tyr191Asp)
n.244T>G
3g.81646480A>GCA353688197GBE1c.694T>C (p.Tyr232His)
c.571T>C (p.Tyr191His)
n.244T>C
3g.81646480A>TCA353688198GBE1c.694T>A (p.Tyr232Asn)
c.571T>A (p.Tyr191Asn)
n.244T>A
3g.81646481T>ACA434493987GBE1c.693A>T (p.Gly231=)
c.570A>T (p.Gly190=)
n.243A>T
 dbSNP gnomAD v3 gnomAD v4
3g.81646481T>CCA434493988GBE1c.693A>G (p.Gly231=)
c.570A>G (p.Gly190=)
n.243A>G
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
3g.81646481T>GCA434493986GBE1c.693A>C (p.Gly231=)
c.570A>C (p.Gly190=)
n.243A>C
 dbSNP gnomAD v2 gnomAD v4
3g.81646481T=CA1378729131GBE1c.693A= (p.Gly231=)
c.570A= (p.Gly190=)
n.243A=
3g.81646482C>ACA353688199GBE1c.692G>T (p.Gly231Val)
c.569G>T (p.Gly190Val)
n.242G>T
 gnomAD v4
3g.81646482C=CA1378729132GBE1c.692G= (p.Gly231=)
c.569G= (p.Gly190=)
n.242G=
3g.81646482C>GCA353688201GBE1c.692G>C (p.Gly231Ala)
c.569G>C (p.Gly190Ala)
n.242G>C
3g.81646482C>TCA353688200GBE1c.692G>A (p.Gly231Glu)
c.569G>A (p.Gly190Glu)
n.242G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.81646483C>ACA353688202GBE1c.692-1G>T (n.692-1G>T)
c.569-1G>T (n.569-1G>T)
n.241G>T
 gnomAD v4
3g.81646483C>GCA353688204GBE1c.692-1G>C (n.692-1G>C)
c.569-1G>C (n.569-1G>C)
n.241G>C
3g.81646483C>TCA353688203GBE1c.692-1G>A (n.692-1G>A)
c.569-1G>A (n.569-1G>A)
n.241G>A
 ClinVar
3g.81646484T>ACA353688205GBE1c.692-2A>T (n.692-2A>T)
c.569-2A>T (n.569-2A>T)
n.240A>T
3g.81646484T>CCA353688207GBE1c.692-2A>G (n.692-2A>G)
c.569-2A>G (n.569-2A>G)
n.240A>G
 gnomAD v4
3g.81646484T>GCA353688206GBE1c.692-2A>C (n.692-2A>C)
c.569-2A>C (n.569-2A>C)
n.240A>C
3g.81646486T>CCA2666623892GBE1c.692-4A>G (n.692-4A>G)
c.569-4A>G (n.569-4A>G)
n.238A>G
 gnomAD v4
3g.81646487A>GCA2577825872GBE1c.692-5T>C (n.692-5T>C)
c.569-5T>C (n.569-5T>C)
n.237T>C
3g.81646488T>CCA2499879GBE1c.692-6A>G (n.692-6A>G)
c.569-6A>G (n.569-6A>G)
n.236A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.81646488T=CA1378729133GBE1c.692-6A= (n.692-6A=)
c.569-6A= (n.569-6A=)
n.236A=
3g.81646489A=CA1378729134GBE1c.692-7T= (n.692-7T=)
c.569-7T= (n.569-7T=)
n.235T=
3g.81646489A>GCA544277804GBE1c.692-7T>C (n.692-7T>C)
c.569-7T>C (n.569-7T>C)
n.235T>C
 dbSNP gnomAD v2 gnomAD v4
3g.81646490delCA2577825873GBE1c.692-7del (n.692-7del)
c.569-7del (n.569-7del)
n.235del
 gnomAD v4
3g.81646490A>GCA2666623893GBE1c.692-8T>C (n.692-8T>C)
c.569-8T>C (n.569-8T>C)
n.234T>C
 gnomAD v4
3g.81646490A>TCA2666623894GBE1c.692-8T>A (n.692-8T>A)
c.569-8T>A (n.569-8T>A)
n.234T>A
 gnomAD v4
3g.81646491G>ACA2666623895GBE1c.692-9C>T (n.692-9C>T)
c.569-9C>T (n.569-9C>T)
n.233C>T
 gnomAD v4
3g.81646491G>TCA2666623896GBE1c.692-9C>A (n.692-9C>A)
c.569-9C>A (n.569-9C>A)
n.233C>A
 gnomAD v4
3g.81646492dupCA2740094510GBE1c.692-9dup (n.692-9dup)
c.569-9dup (n.569-9dup)
n.233dup
 ClinVar
3g.81646492G>ACA2666623897GBE1c.692-10C>T (n.692-10C>T)
c.569-10C>T (n.569-10C>T)
n.232C>T
 gnomAD v4
3g.81646492G>CCA2573137462GBE1c.692-10C>G (n.692-10C>G)
c.569-10C>G (n.569-10C>G)
n.232C>G
 ClinVar dbSNP gnomAD v4
3g.81646492G>TCA2666623898GBE1c.692-10C>A (n.692-10C>A)
c.569-10C>A (n.569-10C>A)
n.232C>A
 gnomAD v4
3g.81646493C>TCA2577825874GBE1c.692-11G>A (n.692-11G>A)
c.569-11G>A (n.569-11G>A)
n.231G>A
 gnomAD v4
3g.81646494A>GCA2666623900GBE1c.692-12T>C (n.692-12T>C)
c.569-12T>C (n.569-12T>C)
n.230T>C
 gnomAD v4
3g.81646494A>TCA2666623899GBE1c.692-12T>A (n.692-12T>A)
c.569-12T>A (n.569-12T>A)
n.230T>A
 gnomAD v4
3g.81646496T>ACA2577825875GBE1c.692-14A>T (n.692-14A>T)
c.569-14A>T (n.569-14A>T)
n.228A>T
3g.81646496T>CCA2666623901GBE1c.692-14A>G (n.692-14A>G)
c.569-14A>G (n.569-14A>G)
n.228A>G
 gnomAD v4
3g.81646496_81646497delinsTGCA1378729135GBE1c.692-15_692-14delinsCA (n.692-15_692-14delinsCA)
c.569-15_569-14delinsCA (n.569-15_569-14delinsCA)
n.227_228delinsCA
3g.81646497G>ACA2666623902GBE1c.692-15C>T (n.692-15C>T)
c.569-15C>T (n.569-15C>T)
n.227C>T
 gnomAD v4
3g.81646497G>TCA2666623903GBE1c.692-15C>A (n.692-15C>A)
c.569-15C>A (n.569-15C>A)
n.227C>A
 gnomAD v4
3g.81646498delCA1050115978GBE1c.692-15del (n.692-15del)
c.569-15del (n.569-15del)
n.227del
 dbSNP gnomAD v3 gnomAD v4
3g.81646498G>ACA2666623904GBE1c.692-16C>T (n.692-16C>T)
c.569-16C>T (n.569-16C>T)
n.226C>T
 gnomAD v4
3g.81646498G>TCA2577825876GBE1c.692-16C>A (n.692-16C>A)
c.569-16C>A (n.569-16C>A)
n.226C>A
 gnomAD v4
3g.81646499T>CCA544277808GBE1c.692-17A>G (n.692-17A>G)
c.569-17A>G (n.569-17A>G)
n.225A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.81646499T=CA1378729136GBE1c.692-17A= (n.692-17A=)
c.569-17A= (n.569-17A=)
n.225A=
3g.81646500C>ACA2666623905GBE1c.692-18G>T (n.692-18G>T)
c.569-18G>T (n.569-18G>T)
n.224G>T
 gnomAD v4
3g.81646500C>TCA2666623906GBE1c.692-18G>A (n.692-18G>A)
c.569-18G>A (n.569-18G>A)
n.224G>A
 gnomAD v4
3g.81646501A>CCA2666623907GBE1c.692-19T>G (n.692-19T>G)
c.569-19T>G (n.569-19T>G)
n.223T>G
 gnomAD v4
3g.81646502A=CA1378729137GBE1c.692-20T= (n.692-20T=)
c.569-20T= (n.569-20T=)
n.222T=
3g.81646502A>CCA1378729138GBE1c.692-20T>G (n.692-20T>G)
c.569-20T>G (n.569-20T>G)
n.222T>G
 dbSNP
3g.81646502A>GCA2666623908GBE1c.692-20T>C (n.692-20T>C)
c.569-20T>C (n.569-20T>C)
n.222T>C
 gnomAD v4
3g.81646502A>TCA2666623909GBE1c.692-20T>A (n.692-20T>A)
c.569-20T>A (n.569-20T>A)
n.222T>A
 gnomAD v4
3g.81646504T>CCA2666623911GBE1c.692-22A>G (n.692-22A>G)
c.569-22A>G (n.569-22A>G)
n.220A>G
 gnomAD v4
3g.81646505_81646506insCTGTCCA2666623910GBE1c.692-22_692-21insCAGGA (n.692-22_692-21insCAGGA)
c.569-22_569-21insCAGGA (n.569-22_569-21insCAGGA)
n.220_221insCAGGA
 gnomAD v4
3g.81646505C>ACA2666623912GBE1c.692-23G>T (n.692-23G>T)
c.569-23G>T (n.569-23G>T)
n.220-1G>T
 gnomAD v4
3g.81646505C=CA1378729139GBE1c.692-23G= (n.692-23G=)
c.569-23G= (n.569-23G=)
n.220-1G=
3g.81646505C>TCA911022116GBE1c.692-23G>A (n.692-23G>A)
c.569-23G>A (n.569-23G>A)
n.220-1G>A
 dbSNP gnomAD v3 gnomAD v4
3g.81646505_81646506insAGAGACTCATTGTGTCA1378729140GBE1c.692-24_692-23insACACAATGAGTCTCT (n.692-24_692-23insACACAATGAGTCTCT)
c.569-24_569-23insACACAATGAGTCTCT (n.569-24_569-23insACACAATGAGTCTCT)
n.220-2_220-1insACACAATGAGTCTCT
 dbSNP
3g.81646506T>CCA2666623913GBE1c.692-24A>G (n.692-24A>G)
c.569-24A>G (n.569-24A>G)
n.220-2A>G
 gnomAD v4
3g.81646507A>GCA2666623914GBE1c.692-25T>C (n.692-25T>C)
c.569-25T>C (n.569-25T>C)
n.220-3T>C
 gnomAD v4

Number of alleles fetched