Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214990693T>GCA1042225981ABCA12c.3624+9A>C (n.3624+9A>C)
c.2670+9A>C (n.2670+9A>C)
n.3924+9A>C
n.4122+9A>C
 dbSNP gnomAD v3 gnomAD v4
2g.214990693T=CA1327165320ABCA12c.3624+9A= (n.3624+9A=)
c.2670+9A= (n.2670+9A=)
n.3924+9A=
n.4122+9A=
2g.214990694T>ACA764540897ABCA12c.3624+8A>T (n.3624+8A>T)
c.2670+8A>T (n.2670+8A>T)
n.3924+8A>T
n.4122+8A>T
 dbSNP
2g.214990694T>CCA1042225986ABCA12c.3624+8A>G (n.3624+8A>G)
c.2670+8A>G (n.2670+8A>G)
n.3924+8A>G
n.4122+8A>G
 dbSNP gnomAD v3 gnomAD v4
2g.214990694T=CA1327165321ABCA12c.3624+8A= (n.3624+8A=)
c.2670+8A= (n.2670+8A=)
n.3924+8A=
n.4122+8A=
2g.214990695G>TCA2662978893ABCA12c.3624+7C>A (n.3624+7C>A)
c.2670+7C>A (n.2670+7C>A)
n.3924+7C>A
n.4122+7C>A
 gnomAD v4
2g.214990700A>CCA350468047ABCA12c.3624+2T>G (n.3624+2T>G)
c.2670+2T>G (n.2670+2T>G)
n.3924+2T>G
n.4122+2T>G
 gnomAD v4
2g.214990700A>GCA350468048ABCA12c.3624+2T>C (n.3624+2T>C)
c.2670+2T>C (n.2670+2T>C)
n.3924+2T>C
n.4122+2T>C
2g.214990700A>TCA350468049ABCA12c.3624+2T>A (n.3624+2T>A)
c.2670+2T>A (n.2670+2T>A)
n.3924+2T>A
n.4122+2T>A
2g.214990701C>ACA350468050ABCA12c.3624+1G>T (n.3624+1G>T)
c.2670+1G>T (n.2670+1G>T)
n.3924+1G>T
n.4122+1G>T
2g.214990701C>GCA350468051ABCA12c.3624+1G>C (n.3624+1G>C)
c.2670+1G>C (n.2670+1G>C)
n.3924+1G>C
n.4122+1G>C
2g.214990701C>TCA350468052ABCA12c.3624+1G>A (n.3624+1G>A)
c.2670+1G>A (n.2670+1G>A)
n.3924+1G>A
n.4122+1G>A
2g.214990702C>ACA350468053ABCA12c.3624G>T (p.Met1208Ile)
c.2670G>T (p.Met890Ile)
n.3924G>T
n.4122G>T
2g.214990702C=CA1327165322ABCA12c.3624G= (p.Met1208=)
c.2670G= (p.Met890=)
n.3924G=
n.4122G=
2g.214990702C>GCA350468054ABCA12c.3624G>C (p.Met1208Ile)
c.2670G>C (p.Met890Ile)
n.3924G>C
n.4122G>C
2g.214990702C>TCA350468055ABCA12c.3624G>A (p.Met1208Ile)
c.2670G>A (p.Met890Ile)
n.3924G>A
n.4122G>A
 dbSNP
2g.214990703A=CA1327165323ABCA12c.3623T= (p.Met1208=)
c.2669T= (p.Met890=)
n.3923T=
n.4121T=
2g.214990703A>CCA350468056ABCA12c.3623T>G (p.Met1208Arg)
c.2669T>G (p.Met890Arg)
n.3923T>G
n.4121T>G
2g.214990703A>GCA350468058ABCA12c.3623T>C (p.Met1208Thr)
c.2669T>C (p.Met890Thr)
n.3923T>C
n.4121T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.214990703A>TCA350468057ABCA12c.3623T>A (p.Met1208Lys)
c.2669T>A (p.Met890Lys)
n.3923T>A
n.4121T>A
2g.214990704T>ACA350468059ABCA12c.3622A>T (p.Met1208Leu)
c.2668A>T (p.Met890Leu)
n.3922A>T
n.4120A>T
2g.214990704T>CCA350468061ABCA12c.3622A>G (p.Met1208Val)
c.2668A>G (p.Met890Val)
n.3922A>G
n.4120A>G
2g.214990704T>GCA350468060ABCA12c.3622A>C (p.Met1208Leu)
c.2668A>C (p.Met890Leu)
n.3922A>C
n.4120A>C
2g.214990705G>ACA431150878ABCA12c.3621C>T (p.Phe1207=)
c.2667C>T (p.Phe889=)
n.3921C>T
n.4119C>T
 ClinVar gnomAD v4
2g.214990705G>CCA350468062ABCA12c.3621C>G (p.Phe1207Leu)
c.2667C>G (p.Phe889Leu)
n.3921C>G
n.4119C>G
2g.214990705G>TCA350468063ABCA12c.3621C>A (p.Phe1207Leu)
c.2667C>A (p.Phe889Leu)
n.3921C>A
n.4119C>A
 gnomAD v4
2g.214990706A>CCA350468064ABCA12c.3620T>G (p.Phe1207Cys)
c.2666T>G (p.Phe889Cys)
n.3920T>G
n.4118T>G
2g.214990706A>GCA350468065ABCA12c.3620T>C (p.Phe1207Ser)
c.2666T>C (p.Phe889Ser)
n.3920T>C
n.4118T>C
2g.214990706A>TCA350468066ABCA12c.3620T>A (p.Phe1207Tyr)
c.2666T>A (p.Phe889Tyr)
n.3920T>A
n.4118T>A
2g.214990707delCA2754209691ABCA12c.3620del (p.Phe1207SerfsTer2)
c.2666del (p.Phe889SerfsTer2)
n.3920del
n.4118del
2g.214990707A=CA1327165324ABCA12c.3619T= (p.Phe1207=)
c.2665T= (p.Phe889=)
n.3919T=
n.4117T=
2g.214990707A>CCA350468067ABCA12c.3619T>G (p.Phe1207Val)
c.2665T>G (p.Phe889Val)
n.3919T>G
n.4117T>G
2g.214990707A>GCA350468069ABCA12c.3619T>C (p.Phe1207Leu)
c.2665T>C (p.Phe889Leu)
n.3919T>C
n.4117T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990707A>TCA350468071ABCA12c.3619T>A (p.Phe1207Ile)
c.2665T>A (p.Phe889Ile)
n.3919T>A
n.4117T>A
 dbSNP gnomAD v4
2g.214990708C>ACA431150879ABCA12c.3618G>T (p.Val1206=)
c.2664G>T (p.Val888=)
n.3918G>T
n.4116G>T
2g.214990708C>GCA431150880ABCA12c.3618G>C (p.Val1206=)
c.2664G>C (p.Val888=)
n.3918G>C
n.4116G>C
2g.214990708C>TCA431150881ABCA12c.3618G>A (p.Val1206=)
c.2664G>A (p.Val888=)
n.3918G>A
n.4116G>A
 gnomAD v4
2g.214990709A=CA1327165325ABCA12c.3617T= (p.Val1206=)
c.2663T= (p.Val888=)
n.3917T=
n.4115T=
2g.214990709A>CCA350468074ABCA12c.3617T>G (p.Val1206Gly)
c.2663T>G (p.Val888Gly)
n.3917T>G
n.4115T>G
 gnomAD v4
2g.214990709A>GCA2091706ABCA12c.3617T>C (p.Val1206Ala)
c.2663T>C (p.Val888Ala)
n.3917T>C
n.4115T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990709A>TCA350468076ABCA12c.3617T>A (p.Val1206Glu)
c.2663T>A (p.Val888Glu)
n.3917T>A
n.4115T>A
2g.214990710C>ACA350468082ABCA12c.3616G>T (p.Val1206Leu)
c.2662G>T (p.Val888Leu)
n.3916G>T
n.4114G>T
2g.214990710C>GCA350468081ABCA12c.3616G>C (p.Val1206Leu)
c.2662G>C (p.Val888Leu)
n.3916G>C
n.4114G>C
2g.214990710C>TCA350468079ABCA12c.3616G>A (p.Val1206Met)
c.2662G>A (p.Val888Met)
n.3916G>A
n.4114G>A
2g.214990711T>ACA350468084ABCA12c.3615A>T (p.Lys1205Asn)
c.2661A>T (p.Lys887Asn)
n.3915A>T
n.4113A>T
2g.214990711T>CCA431150882ABCA12c.3615A>G (p.Lys1205=)
c.2661A>G (p.Lys887=)
n.3915A>G
n.4113A>G
2g.214990711T>GCA350468087ABCA12c.3615A>C (p.Lys1205Asn)
c.2661A>C (p.Lys887Asn)
n.3915A>C
n.4113A>C
2g.214990712_214990713delCA2739278534ABCA12c.3614_3615del (p.Lys1205SerfsTer?)
c.2660_2661del (p.Lys887SerfsTer?)
n.3914_3915del
n.4112_4113del
 ClinVar
2g.214990712T>ACA2091707ABCA12c.3614A>T (p.Lys1205Ile)
c.2660A>T (p.Lys887Ile)
n.3914A>T
n.4112A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990712T>CCA350468090ABCA12c.3614A>G (p.Lys1205Arg)
c.2660A>G (p.Lys887Arg)
n.3914A>G
n.4112A>G
2g.214990712T>GCA350468091ABCA12c.3614A>C (p.Lys1205Thr)
c.2660A>C (p.Lys887Thr)
n.3914A>C
n.4112A>C
2g.214990712T=CA1327165326ABCA12c.3614A= (p.Lys1205=)
c.2660A= (p.Lys887=)
n.3914A=
n.4112A=
2g.214990713T>ACA350468093ABCA12c.3613A>T (p.Lys1205Ter)
c.2659A>T (p.Lys887Ter)
n.3913A>T
n.4111A>T
2g.214990713T>CCA350468095ABCA12c.3613A>G (p.Lys1205Glu)
c.2659A>G (p.Lys887Glu)
n.3913A>G
n.4111A>G
2g.214990713T>GCA350468097ABCA12c.3613A>C (p.Lys1205Gln)
c.2659A>C (p.Lys887Gln)
n.3913A>C
n.4111A>C
 dbSNP gnomAD v4
2g.214990713T=CA1327165327ABCA12c.3613A= (p.Lys1205=)
c.2659A= (p.Lys887=)
n.3913A=
n.4111A=
2g.214990714C>ACA350468100ABCA12c.3612G>T (p.Leu1204Phe)
c.2658G>T (p.Leu886Phe)
n.3912G>T
n.4110G>T
2g.214990714C=CA1327165328ABCA12c.3612G= (p.Leu1204=)
c.2658G= (p.Leu886=)
n.3912G=
n.4110G=
2g.214990714C>GCA350468101ABCA12c.3612G>C (p.Leu1204Phe)
c.2658G>C (p.Leu886Phe)
n.3912G>C
n.4110G>C
 gnomAD v4
2g.214990714C>TCA431150883ABCA12c.3612G>A (p.Leu1204=)
c.2658G>A (p.Leu886=)
n.3912G>A
n.4110G>A
 dbSNP gnomAD v3 gnomAD v4
2g.214990715A>CCA350468104ABCA12c.3611T>G (p.Leu1204Trp)
c.2657T>G (p.Leu886Trp)
n.3911T>G
n.4109T>G
2g.214990715A>GCA350468106ABCA12c.3611T>C (p.Leu1204Ser)
c.2657T>C (p.Leu886Ser)
n.3911T>C
n.4109T>C
2g.214990715A>TCA350468108ABCA12c.3611T>A (p.Leu1204Ter)
c.2657T>A (p.Leu886Ter)
n.3911T>A
n.4109T>A
2g.214990716A=CA1327165329ABCA12c.3610T= (p.Leu1204=)
c.2656T= (p.Leu886=)
n.3910T=
n.4108T=
2g.214990716A>CCA350468110ABCA12c.3610T>G (p.Leu1204Val)
c.2656T>G (p.Leu886Val)
n.3910T>G
n.4108T>G
2g.214990716A>GCA431150884ABCA12c.3610T>C (p.Leu1204=)
c.2656T>C (p.Leu886=)
n.3910T>C
n.4108T>C
 dbSNP gnomAD v3 gnomAD v4
2g.214990716A>TCA350468112ABCA12c.3610T>A (p.Leu1204Met)
c.2656T>A (p.Leu886Met)
n.3910T>A
n.4108T>A
2g.214990717T>ACA431150885ABCA12c.3609A>T (p.Val1203=)
c.2655A>T (p.Val885=)
n.3909A>T
n.4107A>T
2g.214990717T>CCA431150886ABCA12c.3609A>G (p.Val1203=)
c.2655A>G (p.Val885=)
n.3909A>G
n.4107A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990717T>GCA431150887ABCA12c.3609A>C (p.Val1203=)
c.2655A>C (p.Val885=)
n.3909A>C
n.4107A>C
2g.214990717T=CA1327165330ABCA12c.3609A= (p.Val1203=)
c.2655A= (p.Val885=)
n.3909A=
n.4107A=
2g.214990718A>CCA350468117ABCA12c.3608T>G (p.Val1203Gly)
c.2654T>G (p.Val885Gly)
n.3908T>G
n.4106T>G
2g.214990718A>GCA350468118ABCA12c.3608T>C (p.Val1203Ala)
c.2654T>C (p.Val885Ala)
n.3908T>C
n.4106T>C
2g.214990718A>TCA350468120ABCA12c.3608T>A (p.Val1203Glu)
c.2654T>A (p.Val885Glu)
n.3908T>A
n.4106T>A
2g.214990719C>ACA350468123ABCA12c.3607G>T (p.Val1203Leu)
c.2653G>T (p.Val885Leu)
n.3907G>T
n.4105G>T
2g.214990719C=CA1327165331ABCA12c.3607G= (p.Val1203=)
c.2653G= (p.Val885=)
n.3907G=
n.4105G=
2g.214990719C>GCA350468125ABCA12c.3607G>C (p.Val1203Leu)
c.2653G>C (p.Val885Leu)
n.3907G>C
n.4105G>C
2g.214990719C>TCA2091708ABCA12c.3607G>A (p.Val1203Ile)
c.2653G>A (p.Val885Ile)
n.3907G>A
n.4105G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214990720A>CCA350468130ABCA12c.3606T>G (p.Tyr1202Ter)
c.2652T>G (p.Tyr884Ter)
n.3906T>G
n.4104T>G
2g.214990720A>GCA431150888ABCA12c.3606T>C (p.Tyr1202=)
c.2652T>C (p.Tyr884=)
n.3906T>C
n.4104T>C
2g.214990720A>TCA350468132ABCA12c.3606T>A (p.Tyr1202Ter)
c.2652T>A (p.Tyr884Ter)
n.3906T>A
n.4104T>A
2g.214990721T>ACA350468135ABCA12c.3605A>T (p.Tyr1202Phe)
c.2651A>T (p.Tyr884Phe)
n.3905A>T
n.4103A>T
2g.214990721T>CCA350468137ABCA12c.3605A>G (p.Tyr1202Cys)
c.2651A>G (p.Tyr884Cys)
n.3905A>G
n.4103A>G
 dbSNP gnomAD v3 gnomAD v4
2g.214990721T>GCA350468139ABCA12c.3605A>C (p.Tyr1202Ser)
c.2651A>C (p.Tyr884Ser)
n.3905A>C
n.4103A>C
2g.214990722A>CCA350468141ABCA12c.3604T>G (p.Tyr1202Asp)
c.2650T>G (p.Tyr884Asp)
n.3904T>G
n.4102T>G
2g.214990722A>GCA350468143ABCA12c.3604T>C (p.Tyr1202His)
c.2650T>C (p.Tyr884His)
n.3904T>C
n.4102T>C
2g.214990722A>TCA350468146ABCA12c.3604T>A (p.Tyr1202Asn)
c.2650T>A (p.Tyr884Asn)
n.3904T>A
n.4102T>A
2g.214990723G>ACA431387759ABCA12c.3603C>T (p.Ser1201=)
c.2649C>T (p.Ser883=)
n.3903C>T
n.4101C>T
2g.214990723G>CCA350468149ABCA12c.3603C>G (p.Ser1201Arg)
c.2649C>G (p.Ser883Arg)
n.3903C>G
n.4101C>G
2g.214990723G>TCA350468151ABCA12c.3603C>A (p.Ser1201Arg)
c.2649C>A (p.Ser883Arg)
n.3903C>A
n.4101C>A
2g.214990724C>ACA350468153ABCA12c.3602G>T (p.Ser1201Ile)
c.2648G>T (p.Ser883Ile)
n.3902G>T
n.4100G>T
2g.214990724C=CA1327165332ABCA12c.3602G= (p.Ser1201=)
c.2648G= (p.Ser883=)
n.3902G=
n.4100G=
2g.214990724C>GCA350468154ABCA12c.3602G>C (p.Ser1201Thr)
c.2648G>C (p.Ser883Thr)
n.3902G>C
n.4100G>C
 dbSNP gnomAD v2 gnomAD v4
2g.214990724C>TCA350468156ABCA12c.3602G>A (p.Ser1201Asn)
c.2648G>A (p.Ser883Asn)
n.3902G>A
n.4100G>A
 gnomAD v4
2g.214990725T>ACA350468159ABCA12c.3601A>T (p.Ser1201Cys)
c.2647A>T (p.Ser883Cys)
n.3901A>T
n.4099A>T
2g.214990725T>CCA64827475ABCA12c.3601A>G (p.Ser1201Gly)
c.2647A>G (p.Ser883Gly)
n.3901A>G
n.4099A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990725T>GCA350468162ABCA12c.3601A>C (p.Ser1201Arg)
c.2647A>C (p.Ser883Arg)
n.3901A>C
n.4099A>C
2g.214990725T=CA1327165333ABCA12c.3601A= (p.Ser1201=)
c.2647A= (p.Ser883=)
n.3901A=
n.4099A=
2g.214990726C>ACA350468164ABCA12c.3600G>T (p.Leu1200Phe)
c.2646G>T (p.Leu882Phe)
n.3900G>T
n.4098G>T
2g.214990726C=CA1327165334ABCA12c.3600G= (p.Leu1200=)
c.2646G= (p.Leu882=)
n.3900G=
n.4098G=
2g.214990726C>GCA350468166ABCA12c.3600G>C (p.Leu1200Phe)
c.2646G>C (p.Leu882Phe)
n.3900G>C
n.4098G>C
2g.214990726C>TCA431387835ABCA12c.3600G>A (p.Leu1200=)
c.2646G>A (p.Leu882=)
n.3900G>A
n.4098G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990726_214990727delinsCACA1327165335ABCA12c.3599_3600delinsTG (p.Leu1200=)
c.2645_2646delinsTG (p.Leu882=)
n.3899_3900delinsTG
n.4097_4098delinsTG
2g.214990727A>CCA350468168ABCA12c.3599T>G (p.Leu1200Trp)
c.2645T>G (p.Leu882Trp)
n.3899T>G
n.4097T>G
2g.214990727A>GCA350468170ABCA12c.3599T>C (p.Leu1200Ser)
c.2645T>C (p.Leu882Ser)
n.3899T>C
n.4097T>C
2g.214990727A>TCA350468172ABCA12c.3599T>A (p.Leu1200Ter)
c.2645T>A (p.Leu882Ter)
n.3899T>A
n.4097T>A
2g.214990728delCA539837459ABCA12c.3599del (p.Leu1200Ter)
c.2645del (p.Leu882Ter)
n.3899del
n.4097del
 dbSNP gnomAD v2 gnomAD v4
2g.214990728A>CCA350468175ABCA12c.3598T>G (p.Leu1200Val)
c.2644T>G (p.Leu882Val)
n.3898T>G
n.4096T>G
2g.214990728A>GCA431387845ABCA12c.3598T>C (p.Leu1200=)
c.2644T>C (p.Leu882=)
n.3898T>C
n.4096T>C
2g.214990728A>TCA350468177ABCA12c.3598T>A (p.Leu1200Met)
c.2644T>A (p.Leu882Met)
n.3898T>A
n.4096T>A
2g.214990729C>ACA350468178ABCA12c.3597G>T (p.Glu1199Asp)
c.2643G>T (p.Glu881Asp)
n.3897G>T
n.4095G>T
2g.214990729C=CA1327165336ABCA12c.3597G= (p.Glu1199=)
c.2643G= (p.Glu881=)
n.3897G=
n.4095G=
2g.214990729C>GCA350468180ABCA12c.3597G>C (p.Glu1199Asp)
c.2643G>C (p.Glu881Asp)
n.3897G>C
n.4095G>C
2g.214990729C>TCA431387852ABCA12c.3597G>A (p.Glu1199=)
c.2643G>A (p.Glu881=)
n.3897G>A
n.4095G>A
 dbSNP gnomAD v3 gnomAD v4
2g.214990730T>ACA350468182ABCA12c.3596A>T (p.Glu1199Val)
c.2642A>T (p.Glu881Val)
n.3896A>T
n.4094A>T
2g.214990730T>CCA350468184ABCA12c.3596A>G (p.Glu1199Gly)
c.2642A>G (p.Glu881Gly)
n.3896A>G
n.4094A>G
 COSMIC COSMIC
2g.214990730T>GCA350468185ABCA12c.3596A>C (p.Glu1199Ala)
c.2642A>C (p.Glu881Ala)
n.3896A>C
n.4094A>C
2g.214990731C>ACA350468187ABCA12c.3595G>T (p.Glu1199Ter)
c.2641G>T (p.Glu881Ter)
n.3895G>T
n.4093G>T
2g.214990731C>GCA350468189ABCA12c.3595G>C (p.Glu1199Gln)
c.2641G>C (p.Glu881Gln)
n.3895G>C
n.4093G>C
2g.214990731C>TCA350468190ABCA12c.3595G>A (p.Glu1199Lys)
c.2641G>A (p.Glu881Lys)
n.3895G>A
n.4093G>A
2g.214990732A>CCA350468193ABCA12c.3594T>G (p.Asn1198Lys)
c.2640T>G (p.Asn880Lys)
n.3894T>G
n.4092T>G
 gnomAD v4
2g.214990732A>GCA431387871ABCA12c.3594T>C (p.Asn1198=)
c.2640T>C (p.Asn880=)
n.3894T>C
n.4092T>C
2g.214990732A>TCA350468195ABCA12c.3594T>A (p.Asn1198Lys)
c.2640T>A (p.Asn880Lys)
n.3894T>A
n.4092T>A
2g.214990733T>ACA350468198ABCA12c.3593A>T (p.Asn1198Ile)
c.2639A>T (p.Asn880Ile)
n.3893A>T
n.4091A>T
2g.214990733T>CCA350468202ABCA12c.3593A>G (p.Asn1198Ser)
c.2639A>G (p.Asn880Ser)
n.3893A>G
n.4091A>G
 dbSNP
2g.214990733T>GCA350468199ABCA12c.3593A>C (p.Asn1198Thr)
c.2639A>C (p.Asn880Thr)
n.3893A>C
n.4091A>C
2g.214990733T=CA1327165337ABCA12c.3593A= (p.Asn1198=)
c.2639A= (p.Asn880=)
n.3893A=
n.4091A=
2g.214990734T>ACA350468205ABCA12c.3592A>T (p.Asn1198Tyr)
c.2638A>T (p.Asn880Tyr)
n.3892A>T
n.4090A>T
2g.214990734T>CCA350468207ABCA12c.3592A>G (p.Asn1198Asp)
c.2638A>G (p.Asn880Asp)
n.3892A>G
n.4090A>G
2g.214990734T>GCA350468209ABCA12c.3592A>C (p.Asn1198His)
c.2638A>C (p.Asn880His)
n.3892A>C
n.4090A>C
2g.214990735C>ACA350468212ABCA12c.3591G>T (p.Glu1197Asp)
c.2637G>T (p.Glu879Asp)
n.3891G>T
n.4089G>T
2g.214990735C>GCA350468214ABCA12c.3591G>C (p.Glu1197Asp)
c.2637G>C (p.Glu879Asp)
n.3891G>C
n.4089G>C
2g.214990735C>TCA431387884ABCA12c.3591G>A (p.Glu1197=)
c.2637G>A (p.Glu879=)
n.3891G>A
n.4089G>A
2g.214990736T>ACA350468217ABCA12c.3590A>T (p.Glu1197Val)
c.2636A>T (p.Glu879Val)
n.3890A>T
n.4088A>T
2g.214990736T>CCA350468220ABCA12c.3590A>G (p.Glu1197Gly)
c.2636A>G (p.Glu879Gly)
n.3890A>G
n.4088A>G
2g.214990736T>GCA350468219ABCA12c.3590A>C (p.Glu1197Ala)
c.2636A>C (p.Glu879Ala)
n.3890A>C
n.4088A>C
2g.214990737C>ACA350468223ABCA12c.3589G>T (p.Glu1197Ter)
c.2635G>T (p.Glu879Ter)
n.3889G>T
n.4087G>T
2g.214990737C>GCA350468225ABCA12c.3589G>C (p.Glu1197Gln)
c.2635G>C (p.Glu879Gln)
n.3889G>C
n.4087G>C
2g.214990737C>TCA350468227ABCA12c.3589G>A (p.Glu1197Lys)
c.2635G>A (p.Glu879Lys)
n.3889G>A
n.4087G>A
 gnomAD v4
2g.214990738C>ACA431387895ABCA12c.3588G>T (p.Val1196=)
c.2634G>T (p.Val878=)
n.3888G>T
n.4086G>T
2g.214990738C>GCA431387902ABCA12c.3588G>C (p.Val1196=)
c.2634G>C (p.Val878=)
n.3888G>C
n.4086G>C
2g.214990738C>TCA431387904ABCA12c.3588G>A (p.Val1196=)
c.2634G>A (p.Val878=)
n.3888G>A
n.4086G>A
2g.214990739A>CCA350468230ABCA12c.3587T>G (p.Val1196Gly)
c.2633T>G (p.Val878Gly)
n.3887T>G
n.4085T>G
2g.214990739A>GCA350468232ABCA12c.3587T>C (p.Val1196Ala)
c.2633T>C (p.Val878Ala)
n.3887T>C
n.4085T>C
2g.214990739A>TCA350468234ABCA12c.3587T>A (p.Val1196Glu)
c.2633T>A (p.Val878Glu)
n.3887T>A
n.4085T>A
2g.214990740C>ACA350468238ABCA12c.3586G>T (p.Val1196Leu)
c.2632G>T (p.Val878Leu)
n.3886G>T
n.4084G>T
2g.214990740C>GCA350468240ABCA12c.3586G>C (p.Val1196Leu)
c.2632G>C (p.Val878Leu)
n.3886G>C
n.4084G>C
 gnomAD v4
2g.214990740C>TCA350468242ABCA12c.3586G>A (p.Val1196Met)
c.2632G>A (p.Val878Met)
n.3886G>A
n.4084G>A
2g.214990741T>ACA431387913ABCA12c.3585A>T (p.Thr1195=)
c.2631A>T (p.Thr877=)
n.3885A>T
n.4083A>T
2g.214990741T>CCA431387915ABCA12c.3585A>G (p.Thr1195=)
c.2631A>G (p.Thr877=)
n.3885A>G
n.4083A>G
2g.214990741T>GCA431387916ABCA12c.3585A>C (p.Thr1195=)
c.2631A>C (p.Thr877=)
n.3885A>C
n.4083A>C
 gnomAD v4
2g.214990742G>ACA350468245ABCA12c.3584C>T (p.Thr1195Ile)
c.2630C>T (p.Thr877Ile)
n.3884C>T
n.4082C>T
2g.214990742G>CCA350468247ABCA12c.3584C>G (p.Thr1195Arg)
c.2630C>G (p.Thr877Arg)
n.3884C>G
n.4082C>G
 gnomAD v4
2g.214990742G>TCA350468249ABCA12c.3584C>A (p.Thr1195Lys)
c.2630C>A (p.Thr877Lys)
n.3884C>A
n.4082C>A
2g.214990743T>ACA350468255ABCA12c.3583A>T (p.Thr1195Ser)
c.2629A>T (p.Thr877Ser)
n.3883A>T
n.4081A>T
2g.214990743T>CCA350468252ABCA12c.3583A>G (p.Thr1195Ala)
c.2629A>G (p.Thr877Ala)
n.3883A>G
n.4081A>G
2g.214990743T>GCA350468254ABCA12c.3583A>C (p.Thr1195Pro)
c.2629A>C (p.Thr877Pro)
n.3883A>C
n.4081A>C
2g.214990744A>CCA431387925ABCA12c.3582T>G (p.Val1194=)
c.2628T>G (p.Val876=)
n.3882T>G
n.4080T>G
2g.214990744A>GCA431387927ABCA12c.3582T>C (p.Val1194=)
c.2628T>C (p.Val876=)
n.3882T>C
n.4080T>C
 ClinVar
2g.214990744A>TCA431387928ABCA12c.3582T>A (p.Val1194=)
c.2628T>A (p.Val876=)
n.3882T>A
n.4080T>A
2g.214990745A>CCA350468258ABCA12c.3581T>G (p.Val1194Gly)
c.2627T>G (p.Val876Gly)
n.3881T>G
n.4079T>G
2g.214990745A>GCA350468260ABCA12c.3581T>C (p.Val1194Ala)
c.2627T>C (p.Val876Ala)
n.3881T>C
n.4079T>C
2g.214990745A>TCA350468262ABCA12c.3581T>A (p.Val1194Asp)
c.2627T>A (p.Val876Asp)
n.3881T>A
n.4079T>A
2g.214990746C>ACA350468265ABCA12c.3580G>T (p.Val1194Phe)
c.2626G>T (p.Val876Phe)
n.3880G>T
n.4078G>T
2g.214990746C>GCA350468267ABCA12c.3580G>C (p.Val1194Leu)
c.2626G>C (p.Val876Leu)
n.3880G>C
n.4078G>C
2g.214990746C>TCA350468269ABCA12c.3580G>A (p.Val1194Ile)
c.2626G>A (p.Val876Ile)
n.3880G>A
n.4078G>A
2g.214990747C>ACA431387937ABCA12c.3579G>T (p.Leu1193=)
c.2625G>T (p.Leu875=)
n.3879G>T
n.4077G>T
 gnomAD v4
2g.214990747C=CA1327165338ABCA12c.3579G= (p.Leu1193=)
c.2625G= (p.Leu875=)
n.3879G=
n.4077G=
2g.214990747C>GCA431387939ABCA12c.3579G>C (p.Leu1193=)
c.2625G>C (p.Leu875=)
n.3879G>C
n.4077G>C
 gnomAD v4
2g.214990747C>TCA64827476ABCA12c.3579G>A (p.Leu1193=)
c.2625G>A (p.Leu875=)
n.3879G>A
n.4077G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.214990748A>CCA350468275ABCA12c.3578T>G (p.Leu1193Arg)
c.2624T>G (p.Leu875Arg)
n.3878T>G
n.4076T>G
2g.214990748A>GCA350468271ABCA12c.3578T>C (p.Leu1193Pro)
c.2624T>C (p.Leu875Pro)
n.3878T>C
n.4076T>C
 gnomAD v4
2g.214990748A>TCA350468273ABCA12c.3578T>A (p.Leu1193Gln)
c.2624T>A (p.Leu875Gln)
n.3878T>A
n.4076T>A
2g.214990749G>ACA431387948ABCA12c.3577C>T (p.Leu1193=)
c.2623C>T (p.Leu875=)
n.3877C>T
n.4075C>T
2g.214990749G>CCA2091709ABCA12c.3577C>G (p.Leu1193Val)
c.2623C>G (p.Leu875Val)
n.3877C>G
n.4075C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990749G=CA1327165339ABCA12c.3577C= (p.Leu1193=)
c.2623C= (p.Leu875=)
n.3877C=
n.4075C=
2g.214990749G>TCA350468277ABCA12c.3577C>A (p.Leu1193Met)
c.2623C>A (p.Leu875Met)
n.3877C>A
n.4075C>A
2g.214990749_214990752delinsGAACCA1327165340ABCA12c.3574_3577delinsGTTC (p.Val1192=)
c.2620_2623delinsGTTC (p.Val874=)
n.3874_3877delinsGTTC
n.4072_4075delinsGTTC
2g.214990750A>CCA431387959ABCA12c.3576T>G (p.Val1192=)
c.2622T>G (p.Val874=)
n.3876T>G
n.4074T>G
2g.214990750A>GCA431387961ABCA12c.3576T>C (p.Val1192=)
c.2622T>C (p.Val874=)
n.3876T>C
n.4074T>C
2g.214990750A>TCA431387963ABCA12c.3576T>A (p.Val1192=)
c.2622T>A (p.Val874=)
n.3876T>A
n.4074T>A
2g.214990752_214990754delCA539837460ABCA12c.3574_3576del (p.Val1192del)
c.2620_2622del (p.Val874del)
n.3874_3876del
n.4072_4074del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990751A>CCA350468279ABCA12c.3575T>G (p.Val1192Gly)
c.2621T>G (p.Val874Gly)
n.3875T>G
n.4073T>G
2g.214990751A>GCA350468280ABCA12c.3575T>C (p.Val1192Ala)
c.2621T>C (p.Val874Ala)
n.3875T>C
n.4073T>C
2g.214990751A>TCA350468282ABCA12c.3575T>A (p.Val1192Asp)
c.2621T>A (p.Val874Asp)
n.3875T>A
n.4073T>A
2g.214990752C>ACA350468289ABCA12c.3574G>T (p.Val1192Phe)
c.2620G>T (p.Val874Phe)
n.3874G>T
n.4072G>T
2g.214990752C>GCA350468285ABCA12c.3574G>C (p.Val1192Leu)
c.2620G>C (p.Val874Leu)
n.3874G>C
n.4072G>C
2g.214990752C>TCA350468288ABCA12c.3574G>A (p.Val1192Ile)
c.2620G>A (p.Val874Ile)
n.3874G>A
n.4072G>A
 gnomAD v4
2g.214990753A>CCA350468292ABCA12c.3573T>G (p.Ile1191Met)
c.2619T>G (p.Ile873Met)
n.3873T>G
n.4071T>G
2g.214990753A>GCA431387977ABCA12c.3573T>C (p.Ile1191=)
c.2619T>C (p.Ile873=)
n.3873T>C
n.4071T>C
2g.214990753A>TCA431387976ABCA12c.3573T>A (p.Ile1191=)
c.2619T>A (p.Ile873=)
n.3873T>A
n.4071T>A
2g.214990754A=CA1327165341ABCA12c.3572T= (p.Ile1191=)
c.2618T= (p.Ile873=)
n.3872T=
n.4070T=
2g.214990754A>CCA350468296ABCA12c.3572T>G (p.Ile1191Ser)
c.2618T>G (p.Ile873Ser)
n.3872T>G
n.4070T>G
2g.214990754A>GCA2091710ABCA12c.3572T>C (p.Ile1191Thr)
c.2618T>C (p.Ile873Thr)
n.3872T>C
n.4070T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214990754A>TCA350468305ABCA12c.3572T>A (p.Ile1191Asn)
c.2618T>A (p.Ile873Asn)
n.3872T>A
n.4070T>A
2g.214990755T>ACA350468311ABCA12c.3571A>T (p.Ile1191Phe)
c.2617A>T (p.Ile873Phe)
n.3871A>T
n.4069A>T
2g.214990755T>CCA350468312ABCA12c.3571A>G (p.Ile1191Val)
c.2617A>G (p.Ile873Val)
n.3871A>G
n.4069A>G
 gnomAD v4
2g.214990755T>GCA350468313ABCA12c.3571A>C (p.Ile1191Leu)
c.2617A>C (p.Ile873Leu)
n.3871A>C
n.4069A>C
2g.214990756A>CCA350468314ABCA12c.3570T>G (p.Phe1190Leu)
c.2616T>G (p.Phe872Leu)
n.3870T>G
n.4068T>G
2g.214990756A>GCA431387980ABCA12c.3570T>C (p.Phe1190=)
c.2616T>C (p.Phe872=)
n.3870T>C
n.4068T>C
2g.214990756A>TCA350468315ABCA12c.3570T>A (p.Phe1190Leu)
c.2616T>A (p.Phe872Leu)
n.3870T>A
n.4068T>A
2g.214990757A>CCA350468317ABCA12c.3569T>G (p.Phe1190Cys)
c.2615T>G (p.Phe872Cys)
n.3869T>G
n.4067T>G
 gnomAD v4
2g.214990757A>GCA350468320ABCA12c.3569T>C (p.Phe1190Ser)
c.2615T>C (p.Phe872Ser)
n.3869T>C
n.4067T>C
2g.214990757A>TCA350468321ABCA12c.3569T>A (p.Phe1190Tyr)
c.2615T>A (p.Phe872Tyr)
n.3869T>A
n.4067T>A
2g.214990758A>CCA350468324ABCA12c.3568T>G (p.Phe1190Val)
c.2614T>G (p.Phe872Val)
n.3868T>G
n.4066T>G
2g.214990758A>GCA350468322ABCA12c.3568T>C (p.Phe1190Leu)
c.2614T>C (p.Phe872Leu)
n.3868T>C
n.4066T>C
2g.214990758A>TCA350468323ABCA12c.3568T>A (p.Phe1190Ile)
c.2614T>A (p.Phe872Ile)
n.3868T>A
n.4066T>A
2g.214990759T>ACA431387984ABCA12c.3567A>T (p.Pro1189=)
c.2613A>T (p.Pro871=)
n.3867A>T
n.4065A>T
2g.214990759T>CCA2091711ABCA12c.3567A>G (p.Pro1189=)
c.2613A>G (p.Pro871=)
n.3867A>G
n.4065A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990759T>GCA431387985ABCA12c.3567A>C (p.Pro1189=)
c.2613A>C (p.Pro871=)
n.3867A>C
n.4065A>C
2g.214990759T=CA1327165342ABCA12c.3567A= (p.Pro1189=)
c.2613A= (p.Pro871=)
n.3867A=
n.4065A=
2g.214990760G>ACA350468327ABCA12c.3566C>T (p.Pro1189Leu)
c.2612C>T (p.Pro871Leu)
n.3866C>T
n.4064C>T
2g.214990760G>CCA350468329ABCA12c.3566C>G (p.Pro1189Arg)
c.2612C>G (p.Pro871Arg)
n.3866C>G
n.4064C>G
2g.214990760G>TCA350468331ABCA12c.3566C>A (p.Pro1189Gln)
c.2612C>A (p.Pro871Gln)
n.3866C>A
n.4064C>A
2g.214990761G>ACA350468334ABCA12c.3565C>T (p.Pro1189Ser)
c.2611C>T (p.Pro871Ser)
n.3865C>T
n.4063C>T
2g.214990761G>CCA350468337ABCA12c.3565C>G (p.Pro1189Ala)
c.2611C>G (p.Pro871Ala)
n.3865C>G
n.4063C>G
2g.214990761G>TCA350468339ABCA12c.3565C>A (p.Pro1189Thr)
c.2611C>A (p.Pro871Thr)
n.3865C>A
n.4063C>A
2g.214990762A=CA1327165343ABCA12c.3564T= (p.Phe1188=)
c.2610T= (p.Phe870=)
n.3864T=
n.4062T=
2g.214990762A>CCA2091712ABCA12c.3564T>G (p.Phe1188Leu)
c.2610T>G (p.Phe870Leu)
n.3864T>G
n.4062T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990762A>GCA431387990ABCA12c.3564T>C (p.Phe1188=)
c.2610T>C (p.Phe870=)
n.3864T>C
n.4062T>C
2g.214990762A>TCA350468355ABCA12c.3564T>A (p.Phe1188Leu)
c.2610T>A (p.Phe870Leu)
n.3864T>A
n.4062T>A
2g.214990763A>CCA350468358ABCA12c.3563T>G (p.Phe1188Cys)
c.2609T>G (p.Phe870Cys)
n.3863T>G
n.4061T>G
2g.214990763A>GCA350468361ABCA12c.3563T>C (p.Phe1188Ser)
c.2609T>C (p.Phe870Ser)
n.3863T>C
n.4061T>C
2g.214990763A>TCA350468370ABCA12c.3563T>A (p.Phe1188Tyr)
c.2609T>A (p.Phe870Tyr)
n.3863T>A
n.4061T>A
 COSMIC
2g.214990764A=CA1327165344ABCA12c.3562T= (p.Phe1188=)
c.2608T= (p.Phe870=)
n.3862T=
n.4060T=
2g.214990764A>CCA350468374ABCA12c.3562T>G (p.Phe1188Val)
c.2608T>G (p.Phe870Val)
n.3862T>G
n.4060T>G
2g.214990764A>GCA2091713ABCA12c.3562T>C (p.Phe1188Leu)
c.2608T>C (p.Phe870Leu)
n.3862T>C
n.4060T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214990764A>TCA350468375ABCA12c.3562T>A (p.Phe1188Ile)
c.2608T>A (p.Phe870Ile)
n.3862T>A
n.4060T>A
2g.214990765G>ACA431387993ABCA12c.3561C>T (p.Phe1187=)
c.2607C>T (p.Phe869=)
n.3861C>T
n.4059C>T
 ClinVar dbSNP gnomAD v4
2g.214990765G>CCA350468377ABCA12c.3561C>G (p.Phe1187Leu)
c.2607C>G (p.Phe869Leu)
n.3861C>G
n.4059C>G
2g.214990765G=CA1327165345ABCA12c.3561C= (p.Phe1187=)
c.2607C= (p.Phe869=)
n.3861C=
n.4059C=
2g.214990765G>TCA350468378ABCA12c.3561C>A (p.Phe1187Leu)
c.2607C>A (p.Phe869Leu)
n.3861C>A
n.4059C>A
2g.214990766A=CA1327165346ABCA12c.3560T= (p.Phe1187=)
c.2606T= (p.Phe869=)
n.3860T=
n.4058T=
2g.214990766A>CCA350468381ABCA12c.3560T>G (p.Phe1187Cys)
c.2606T>G (p.Phe869Cys)
n.3860T>G
n.4058T>G
 dbSNP
2g.214990766A>GCA350468387ABCA12c.3560T>C (p.Phe1187Ser)
c.2606T>C (p.Phe869Ser)
n.3860T>C
n.4058T>C
2g.214990766A>TCA350468389ABCA12c.3560T>A (p.Phe1187Tyr)
c.2606T>A (p.Phe869Tyr)
n.3860T>A
n.4058T>A
2g.214990767A>CCA350468392ABCA12c.3559T>G (p.Phe1187Val)
c.2605T>G (p.Phe869Val)
n.3859T>G
n.4057T>G
2g.214990767A>GCA350468395ABCA12c.3559T>C (p.Phe1187Leu)
c.2605T>C (p.Phe869Leu)
n.3859T>C
n.4057T>C
2g.214990767A>TCA350468397ABCA12c.3559T>A (p.Phe1187Ile)
c.2605T>A (p.Phe869Ile)
n.3859T>A
n.4057T>A
2g.214990768G>ACA431387994ABCA12c.3558C>T (p.Ala1186=)
c.2604C>T (p.Ala868=)
n.3858C>T
n.4056C>T
2g.214990768G>CCA431387995ABCA12c.3558C>G (p.Ala1186=)
c.2604C>G (p.Ala868=)
n.3858C>G
n.4056C>G
 gnomAD v4
2g.214990768G>TCA431387996ABCA12c.3558C>A (p.Ala1186=)
c.2604C>A (p.Ala868=)
n.3858C>A
n.4056C>A
 ClinVar
2g.214990769G>ACA350468399ABCA12c.3557C>T (p.Ala1186Val)
c.2603C>T (p.Ala868Val)
n.3857C>T
n.4055C>T
2g.214990769G>CCA350468401ABCA12c.3557C>G (p.Ala1186Gly)
c.2603C>G (p.Ala868Gly)
n.3857C>G
n.4055C>G
2g.214990769G=CA1327165347ABCA12c.3557C= (p.Ala1186=)
c.2603C= (p.Ala868=)
n.3857C=
n.4055C=
2g.214990769G>TCA350468403ABCA12c.3557C>A (p.Ala1186Asp)
c.2603C>A (p.Ala868Asp)
n.3857C>A
n.4055C>A
 dbSNP gnomAD v2 gnomAD v4
2g.214990770C>ACA350468408ABCA12c.3556G>T (p.Ala1186Ser)
c.2602G>T (p.Ala868Ser)
n.3856G>T
n.4054G>T
2g.214990770C>GCA350468411ABCA12c.3556G>C (p.Ala1186Pro)
c.2602G>C (p.Ala868Pro)
n.3856G>C
n.4054G>C
 gnomAD v4
2g.214990770C>TCA350468414ABCA12c.3556G>A (p.Ala1186Thr)
c.2602G>A (p.Ala868Thr)
n.3856G>A
n.4054G>A
2g.214990771A>CCA350468417ABCA12c.3555T>G (p.Ile1185Met)
c.2601T>G (p.Ile867Met)
n.3855T>G
n.4053T>G
2g.214990771A>GCA431388000ABCA12c.3555T>C (p.Ile1185=)
c.2601T>C (p.Ile867=)
n.3855T>C
n.4053T>C
2g.214990771A>TCA431388001ABCA12c.3555T>A (p.Ile1185=)
c.2601T>A (p.Ile867=)
n.3855T>A
n.4053T>A
2g.214990772A>CCA350468424ABCA12c.3554T>G (p.Ile1185Ser)
c.2600T>G (p.Ile867Ser)
n.3854T>G
n.4052T>G
2g.214990772A>GCA350468420ABCA12c.3554T>C (p.Ile1185Thr)
c.2600T>C (p.Ile867Thr)
n.3854T>C
n.4052T>C
 gnomAD v4
2g.214990772A>TCA350468422ABCA12c.3554T>A (p.Ile1185Asn)
c.2600T>A (p.Ile867Asn)
n.3854T>A
n.4052T>A
2g.214990773T>ACA350468427ABCA12c.3553A>T (p.Ile1185Phe)
c.2599A>T (p.Ile867Phe)
n.3853A>T
n.4051A>T
2g.214990773T>CCA2091714ABCA12c.3553A>G (p.Ile1185Val)
c.2599A>G (p.Ile867Val)
n.3853A>G
n.4051A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214990773T>GCA350468431ABCA12c.3553A>C (p.Ile1185Leu)
c.2599A>C (p.Ile867Leu)
n.3853A>C
n.4051A>C
2g.214990773T=CA1327165348ABCA12c.3553A= (p.Ile1185=)
c.2599A= (p.Ile867=)
n.3853A=
n.4051A=
2g.214990774G>ACA431388007ABCA12c.3552C>T (p.Ile1184=)
c.2598C>T (p.Ile866=)
n.3852C>T
n.4050C>T
2g.214990774G>CCA350468434ABCA12c.3552C>G (p.Ile1184Met)
c.2598C>G (p.Ile866Met)
n.3852C>G
n.4050C>G
2g.214990774G>TCA431388003ABCA12c.3552C>A (p.Ile1184=)
c.2598C>A (p.Ile866=)
n.3852C>A
n.4050C>A
2g.214990775A>CCA350468437ABCA12c.3551T>G (p.Ile1184Ser)
c.2597T>G (p.Ile866Ser)
n.3851T>G
n.4049T>G
2g.214990775A>GCA350468438ABCA12c.3551T>C (p.Ile1184Thr)
c.2597T>C (p.Ile866Thr)
n.3851T>C
n.4049T>C
2g.214990775A>TCA350468439ABCA12c.3551T>A (p.Ile1184Asn)
c.2597T>A (p.Ile866Asn)
n.3851T>A
n.4049T>A
2g.214990776T>ACA350468440ABCA12c.3550A>T (p.Ile1184Phe)
c.2596A>T (p.Ile866Phe)
n.3850A>T
n.4048A>T
2g.214990776T>CCA350468441ABCA12c.3550A>G (p.Ile1184Val)
c.2596A>G (p.Ile866Val)
n.3850A>G
n.4048A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990776T>GCA350468442ABCA12c.3550A>C (p.Ile1184Leu)
c.2596A>C (p.Ile866Leu)
n.3850A>C
n.4048A>C
2g.214990776T=CA1327165349ABCA12c.3550A= (p.Ile1184=)
c.2596A= (p.Ile866=)
n.3850A=
n.4048A=
2g.214990777G>ACA431388013ABCA12c.3549C>T (p.Tyr1183=)
c.2595C>T (p.Tyr865=)
n.3849C>T
n.4047C>T
 gnomAD v4
2g.214990777G>CCA350468449ABCA12c.3549C>G (p.Tyr1183Ter)
c.2595C>G (p.Tyr865Ter)
n.3849C>G
n.4047C>G
2g.214990777G>TCA350468453ABCA12c.3549C>A (p.Tyr1183Ter)
c.2595C>A (p.Tyr865Ter)
n.3849C>A
n.4047C>A
2g.214990778T>ACA350468463ABCA12c.3548A>T (p.Tyr1183Phe)
c.2594A>T (p.Tyr865Phe)
n.3848A>T
n.4046A>T
2g.214990778T>CCA2091715ABCA12c.3548A>G (p.Tyr1183Cys)
c.2594A>G (p.Tyr865Cys)
n.3848A>G
n.4046A>G
 dbSNP ExAC gnomAD v2
2g.214990778T>GCA350468459ABCA12c.3548A>C (p.Tyr1183Ser)
c.2594A>C (p.Tyr865Ser)
n.3848A>C
n.4046A>C
2g.214990778T=CA1327165350ABCA12c.3548A= (p.Tyr1183=)
c.2594A= (p.Tyr865=)
n.3848A=
n.4046A=
2g.214990779A>CCA350468468ABCA12c.3547T>G (p.Tyr1183Asp)
c.2593T>G (p.Tyr865Asp)
n.3847T>G
n.4045T>G
2g.214990779A>GCA350468471ABCA12c.3547T>C (p.Tyr1183His)
c.2593T>C (p.Tyr865His)
n.3847T>C
n.4045T>C
 COSMIC COSMIC
2g.214990779A>TCA350468473ABCA12c.3547T>A (p.Tyr1183Asn)
c.2593T>A (p.Tyr865Asn)
n.3847T>A
n.4045T>A
2g.214990780G>ACA431388016ABCA12c.3546C>T (p.Ile1182=)
c.2592C>T (p.Ile864=)
n.3846C>T
n.4044C>T
 gnomAD v4
2g.214990780G>CCA2091716ABCA12c.3546C>G (p.Ile1182Met)
c.2592C>G (p.Ile864Met)
n.3846C>G
n.4044C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214990780G=CA1327165351ABCA12c.3546C= (p.Ile1182=)
c.2592C= (p.Ile864=)
n.3846C=
n.4044C=
2g.214990780G>TCA431388017ABCA12c.3546C>A (p.Ile1182=)
c.2592C>A (p.Ile864=)
n.3846C>A
n.4044C>A
2g.214990781A=CA1327165352ABCA12c.3545T= (p.Ile1182=)
c.2591T= (p.Ile864=)
n.3845T=
n.4043T=
2g.214990781A>CCA350468479ABCA12c.3545T>G (p.Ile1182Ser)
c.2591T>G (p.Ile864Ser)
n.3845T>G
n.4043T>G
2g.214990781A>GCA2091717ABCA12c.3545T>C (p.Ile1182Thr)
c.2591T>C (p.Ile864Thr)
n.3845T>C
n.4043T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990781A>TCA350468483ABCA12c.3545T>A (p.Ile1182Asn)
c.2591T>A (p.Ile864Asn)
n.3845T>A
n.4043T>A
2g.214990782T>ACA350468484ABCA12c.3544A>T (p.Ile1182Phe)
c.2590A>T (p.Ile864Phe)
n.3844A>T
n.4042A>T
2g.214990782T>CCA350468485ABCA12c.3544A>G (p.Ile1182Val)
c.2590A>G (p.Ile864Val)
n.3844A>G
n.4042A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990782T>GCA350468486ABCA12c.3544A>C (p.Ile1182Leu)
c.2590A>C (p.Ile864Leu)
n.3844A>C
n.4042A>C
2g.214990782T=CA1327165353ABCA12c.3544A= (p.Ile1182=)
c.2590A= (p.Ile864=)
n.3844A=
n.4042A=
2g.214990783G>ACA431388022ABCA12c.3543C>T (p.Leu1181=)
c.2589C>T (p.Leu863=)
n.3843C>T
n.4041C>T
 ClinVar
2g.214990783G>CCA431388023ABCA12c.3543C>G (p.Leu1181=)
c.2589C>G (p.Leu863=)
n.3843C>G
n.4041C>G
2g.214990783G>TCA431388024ABCA12c.3543C>A (p.Leu1181=)
c.2589C>A (p.Leu863=)
n.3843C>A
n.4041C>A
2g.214990784A>CCA350468489ABCA12c.3542T>G (p.Leu1181Arg)
c.2588T>G (p.Leu863Arg)
n.3842T>G
n.4040T>G
2g.214990784A>GCA350468492ABCA12c.3542T>C (p.Leu1181Pro)
c.2588T>C (p.Leu863Pro)
n.3842T>C
n.4040T>C
2g.214990784A>TCA350468493ABCA12c.3542T>A (p.Leu1181His)
c.2588T>A (p.Leu863His)
n.3842T>A
n.4040T>A
 gnomAD v4
2g.214990785G>ACA350468501ABCA12c.3541C>T (p.Leu1181Phe)
c.2587C>T (p.Leu863Phe)
n.3841C>T
n.4039C>T
2g.214990785G>CCA350468505ABCA12c.3541C>G (p.Leu1181Val)
c.2587C>G (p.Leu863Val)
n.3841C>G
n.4039C>G
2g.214990785G>TCA350468496ABCA12c.3541C>A (p.Leu1181Ile)
c.2587C>A (p.Leu863Ile)
n.3841C>A
n.4039C>A
2g.214990786G>ACA431388029ABCA12c.3540C>T (p.Ser1180=)
c.2586C>T (p.Ser862=)
n.3840C>T
n.4038C>T
2g.214990786G>CCA350468509ABCA12c.3540C>G (p.Ser1180Arg)
c.2586C>G (p.Ser862Arg)
n.3840C>G
n.4038C>G
2g.214990786G>TCA350468511ABCA12c.3540C>A (p.Ser1180Arg)
c.2586C>A (p.Ser862Arg)
n.3840C>A
n.4038C>A
2g.214990787C>ACA350468521ABCA12c.3539G>T (p.Ser1180Ile)
c.2585G>T (p.Ser862Ile)
n.3839G>T
n.4037G>T
2g.214990787C>GCA350468526ABCA12c.3539G>C (p.Ser1180Thr)
c.2585G>C (p.Ser862Thr)
n.3839G>C
n.4037G>C
2g.214990787C>TCA350468524ABCA12c.3539G>A (p.Ser1180Asn)
c.2585G>A (p.Ser862Asn)
n.3839G>A
n.4037G>A
2g.214990788T>ACA350468536ABCA12c.3538A>T (p.Ser1180Cys)
c.2584A>T (p.Ser862Cys)
n.3838A>T
n.4036A>T
2g.214990788T>CCA350468539ABCA12c.3538A>G (p.Ser1180Gly)
c.2584A>G (p.Ser862Gly)
n.3838A>G
n.4036A>G
2g.214990788T>GCA350468546ABCA12c.3538A>C (p.Ser1180Arg)
c.2584A>C (p.Ser862Arg)
n.3838A>C
n.4036A>C
2g.214990789T>ACA431388033ABCA12c.3537A>T (p.Gly1179=)
c.2583A>T (p.Gly861=)
n.3837A>T
n.4035A>T
2g.214990789T>CCA431388034ABCA12c.3537A>G (p.Gly1179=)
c.2583A>G (p.Gly861=)
n.3837A>G
n.4035A>G
2g.214990789T>GCA431388035ABCA12c.3537A>C (p.Gly1179=)
c.2583A>C (p.Gly861=)
n.3837A>C
n.4035A>C
2g.214990790C>ACA350468548ABCA12c.3536G>T (p.Gly1179Val)
c.2582G>T (p.Gly861Val)
n.3836G>T
n.4034G>T
2g.214990790C>GCA350468553ABCA12c.3536G>C (p.Gly1179Ala)
c.2582G>C (p.Gly861Ala)
n.3836G>C
n.4034G>C
2g.214990790C>TCA350468555ABCA12c.3536G>A (p.Gly1179Glu)
c.2582G>A (p.Gly861Glu)
n.3836G>A
n.4034G>A
2g.214990791C>ACA350468557ABCA12c.3535G>T (p.Gly1179Ter)
c.2581G>T (p.Gly861Ter)
n.3835G>T
n.4033G>T
 ClinVar
2g.214990791C=CA1327165354ABCA12c.3535G= (p.Gly1179=)
c.2581G= (p.Gly861=)
n.3835G=
n.4033G=
2g.214990791C>GCA350468560ABCA12c.3535G>C (p.Gly1179Arg)
c.2581G>C (p.Gly861Arg)
n.3835G>C
n.4033G>C
2g.214990791C>TCA252486ABCA12c.3535G>A (p.Gly1179Arg)
c.2581G>A (p.Gly861Arg)
n.3835G>A
n.4033G>A
 ClinVar dbSNP gnomAD v4
2g.214990792G>ACA2091718ABCA12c.3534C>T (p.Ile1178=)
c.2580C>T (p.Ile860=)
n.3834C>T
n.4032C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990792G>CCA350468570ABCA12c.3534C>G (p.Ile1178Met)
c.2580C>G (p.Ile860Met)
n.3834C>G
n.4032C>G
2g.214990792G=CA1327165355ABCA12c.3534C= (p.Ile1178=)
c.2580C= (p.Ile860=)
n.3834C=
n.4032C=
2g.214990792G>TCA431388042ABCA12c.3534C>A (p.Ile1178=)
c.2580C>A (p.Ile860=)
n.3834C>A
n.4032C>A
 ClinVar gnomAD v4

Number of alleles fetched