Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.23321480_23321504delinsCGGCGGCGGCGGCAGCAGCAGCGGGCA2123399775BCL2L2-PABPN1,PABPN1c.11_35delinsCGGCGGCGGCGGCAGCAGCAGCGGG (p.Ala4=)
c.529-701_529-677delinsCGGCGGCGGCGGCAGCAGCAGCGGG (n.529-701_529-677delinsCGGCGGCGGCGGCAGCAGCAGCGGG)
c.433-701_433-677delinsCGGCGGCGGCGGCAGCAGCAGCGGG (n.433-701_433-677delinsCGGCGGCGGCGGCAGCAGCAGCGGG)
c.550-701_550-677delinsCGGCGGCGGCGGCAGCAGCAGCGGG (n.550-701_550-677delinsCGGCGGCGGCGGCAGCAGCAGCGGG)
14g.23321484_23321507delCA257773649BCL2L2-PABPN1,PABPN1c.15_38del (p.Ala6_Ala13del)
c.529-697_529-674del (n.529-697_529-674del)
c.433-697_433-674del (n.433-697_433-674del)
c.550-697_550-674del (n.550-697_550-674del)
 dbSNP gnomAD v3 gnomAD v4
14g.23321492_23321512dupCA2573053874BCL2L2-PABPN1,PABPN1c.23_43dup (p.Ala14_Gly15insAlaAlaAlaAlaGlyAlaAla)
c.529-689_529-669dup (n.529-689_529-669dup)
c.433-689_433-669dup (n.433-689_433-669dup)
c.550-689_550-669dup (n.550-689_550-669dup)
 dbSNP
14g.23321493_23321507dupCA961074294BCL2L2-PABPN1,PABPN1c.24_38dup (p.Ala13_Ala14insAlaAlaAlaGlyAla)
c.529-688_529-674dup (n.529-688_529-674dup)
c.433-688_433-674dup (n.433-688_433-674dup)
c.550-688_550-674dup (n.550-688_550-674dup)
 dbSNP gnomAD v3 gnomAD v4
14g.23321505_23321513dupCA704293696BCL2L2-PABPN1,PABPN1c.36_44dup (p.Gly15_Gly16insAlaAlaGly)
c.529-676_529-668dup (n.529-676_529-668dup)
c.433-676_433-668dup (n.433-676_433-668dup)
c.550-676_550-668dup (n.550-676_550-668dup)
 dbSNP
14g.23321506delCA2624232518BCL2L2-PABPN1,PABPN1c.37del (p.Ala13LeufsTer?)
c.529-675del (n.529-675del)
c.433-675del (n.433-675del)
c.550-675del (n.550-675del)
 gnomAD v4
14g.23321504_23321506delCA2624232519BCL2L2-PABPN1,PABPN1c.35_37del (p.Gly12del)
c.529-677_529-675del (n.529-677_529-675del)
c.433-677_433-675del (n.433-677_433-675del)
c.550-677_550-675del (n.550-677_550-675del)
 gnomAD v4
14g.23321509_23321524dupCA2624232524BCL2L2-PABPN1,PABPN1c.40_55dup (p.Ser19CysfsTer?)
c.529-672_529-657dup (n.529-672_529-657dup)
c.433-672_433-657dup (n.433-672_433-657dup)
c.550-672_550-657dup (n.550-672_550-657dup)
 gnomAD v4
14g.23321504G>ACA388967008BCL2L2-PABPN1,PABPN1c.35G>A (p.Gly12Glu)
c.529-677G>A (n.529-677G>A)
c.433-677G>A (n.433-677G>A)
c.550-677G>A (n.550-677G>A)
 gnomAD v4
14g.23321504G>CCA254158BCL2L2-PABPN1,PABPN1c.35G>C (p.Gly12Ala)
c.529-677G>C (n.529-677G>C)
c.433-677G>C (n.433-677G>C)
c.550-677G>C (n.550-677G>C)
 ClinVar dbSNP gnomAD v4
14g.23321504G=CA2123399888BCL2L2-PABPN1,PABPN1c.35G= (p.Gly12=)
c.529-677G= (n.529-677G=)
c.433-677G= (n.433-677G=)
c.550-677G= (n.550-677G=)
14g.23321504G>TCA388967012BCL2L2-PABPN1,PABPN1c.35G>T (p.Gly12Val)
c.529-677G>T (n.529-677G>T)
c.433-677G>T (n.433-677G>T)
c.550-677G>T (n.550-677G>T)
 gnomAD v4
14g.23321505G>ACA485761693BCL2L2-PABPN1,PABPN1c.36G>A (p.Gly12=)
c.529-676G>A (n.529-676G>A)
c.433-676G>A (n.433-676G>A)
c.550-676G>A (n.550-676G>A)
 dbSNP gnomAD v3 gnomAD v4
14g.23321505G>CCA485761694BCL2L2-PABPN1,PABPN1c.36G>C (p.Gly12=)
c.529-676G>C (n.529-676G>C)
c.433-676G>C (n.433-676G>C)
c.550-676G>C (n.550-676G>C)
 gnomAD v4
14g.23321505G=CA2123399893BCL2L2-PABPN1,PABPN1c.36G= (p.Gly12=)
c.529-676G= (n.529-676G=)
c.433-676G= (n.433-676G=)
c.550-676G= (n.550-676G=)
14g.23321505G>TCA485761695BCL2L2-PABPN1,PABPN1c.36G>T (p.Gly12=)
c.529-676G>T (n.529-676G>T)
c.433-676G>T (n.433-676G>T)
c.550-676G>T (n.550-676G>T)
 gnomAD v4
14g.23321506G>ACA388967017BCL2L2-PABPN1,PABPN1c.37G>A (p.Ala13Thr)
c.529-675G>A (n.529-675G>A)
c.433-675G>A (n.433-675G>A)
c.550-675G>A (n.550-675G>A)
 dbSNP gnomAD v4
14g.23321506G>CCA388967020BCL2L2-PABPN1,PABPN1c.37G>C (p.Ala13Pro)
c.529-675G>C (n.529-675G>C)
c.433-675G>C (n.433-675G>C)
c.550-675G>C (n.550-675G>C)
 ClinVar dbSNP gnomAD v4
14g.23321506G=CA2123399896BCL2L2-PABPN1,PABPN1c.37G= (p.Ala13=)
c.529-675G= (n.529-675G=)
c.433-675G= (n.433-675G=)
c.550-675G= (n.550-675G=)
14g.23321506G>TCA388967015BCL2L2-PABPN1,PABPN1c.37G>T (p.Ala13Ser)
c.529-675G>T (n.529-675G>T)
c.433-675G>T (n.433-675G>T)
c.550-675G>T (n.550-675G>T)
 gnomAD v4
14g.23321507C>ACA388967023BCL2L2-PABPN1,PABPN1c.38C>A (p.Ala13Asp)
c.529-674C>A (n.529-674C>A)
c.433-674C>A (n.433-674C>A)
c.550-674C>A (n.550-674C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.23321507C=CA2123399898BCL2L2-PABPN1,PABPN1c.38C= (p.Ala13=)
c.529-674C= (n.529-674C=)
c.433-674C= (n.433-674C=)
c.550-674C= (n.550-674C=)
14g.23321507C>GCA388967025BCL2L2-PABPN1,PABPN1c.38C>G (p.Ala13Gly)
c.529-674C>G (n.529-674C>G)
c.433-674C>G (n.433-674C>G)
c.550-674C>G (n.550-674C>G)
14g.23321507C>TCA388967026BCL2L2-PABPN1,PABPN1c.38C>T (p.Ala13Val)
c.529-674C>T (n.529-674C>T)
c.433-674C>T (n.433-674C>T)
c.550-674C>T (n.550-674C>T)
 dbSNP gnomAD v4
14g.23321508T>ACA485761696BCL2L2-PABPN1,PABPN1c.39T>A (p.Ala13=)
c.529-673T>A (n.529-673T>A)
c.433-673T>A (n.433-673T>A)
c.550-673T>A (n.550-673T>A)
14g.23321508T>CCA485761698BCL2L2-PABPN1,PABPN1c.39T>C (p.Ala13=)
c.529-673T>C (n.529-673T>C)
c.433-673T>C (n.433-673T>C)
c.550-673T>C (n.550-673T>C)
 gnomAD v4
14g.23321508T>GCA485761697BCL2L2-PABPN1,PABPN1c.39T>G (p.Ala13=)
c.529-673T>G (n.529-673T>G)
c.433-673T>G (n.433-673T>G)
c.550-673T>G (n.550-673T>G)
14g.23321509G>ACA388967028BCL2L2-PABPN1,PABPN1c.40G>A (p.Ala14Thr)
c.529-672G>A (n.529-672G>A)
c.433-672G>A (n.433-672G>A)
c.550-672G>A (n.550-672G>A)
 gnomAD v4
14g.23321509G>CCA388967029BCL2L2-PABPN1,PABPN1c.40G>C (p.Ala14Pro)
c.529-672G>C (n.529-672G>C)
c.433-672G>C (n.433-672G>C)
c.550-672G>C (n.550-672G>C)
 gnomAD v4
14g.23321509G>TCA388967030BCL2L2-PABPN1,PABPN1c.40G>T (p.Ala14Ser)
c.529-672G>T (n.529-672G>T)
c.433-672G>T (n.433-672G>T)
c.550-672G>T (n.550-672G>T)
14g.23321510C>ACA388967032BCL2L2-PABPN1,PABPN1c.41C>A (p.Ala14Glu)
c.529-671C>A (n.529-671C>A)
c.433-671C>A (n.433-671C>A)
c.550-671C>A (n.550-671C>A)
 gnomAD v4
14g.23321510C=CA2123399900BCL2L2-PABPN1,PABPN1c.41C= (p.Ala14=)
c.529-671C= (n.529-671C=)
c.433-671C= (n.433-671C=)
c.550-671C= (n.550-671C=)
14g.23321510C>GCA388967035BCL2L2-PABPN1,PABPN1c.41C>G (p.Ala14Gly)
c.529-671C>G (n.529-671C>G)
c.433-671C>G (n.433-671C>G)
c.550-671C>G (n.550-671C>G)
 dbSNP
14g.23321510C>TCA388967038BCL2L2-PABPN1,PABPN1c.41C>T (p.Ala14Val)
c.529-671C>T (n.529-671C>T)
c.433-671C>T (n.433-671C>T)
c.550-671C>T (n.550-671C>T)
 gnomAD v4
14g.23321515_23321530dupCA2624232591BCL2L2-PABPN1,PABPN1c.46_61dup (p.Pro21ArgfsTer?)
c.529-666_529-651dup (n.529-666_529-651dup)
c.433-666_433-651dup (n.433-666_433-651dup)
c.550-666_550-651dup (n.550-666_550-651dup)
 gnomAD v4
14g.23321511G>ACA485761699BCL2L2-PABPN1,PABPN1c.42G>A (p.Ala14=)
c.529-670G>A (n.529-670G>A)
c.433-670G>A (n.433-670G>A)
c.550-670G>A (n.550-670G>A)
 gnomAD v4
14g.23321511G>CCA485761700BCL2L2-PABPN1,PABPN1c.42G>C (p.Ala14=)
c.529-670G>C (n.529-670G>C)
c.433-670G>C (n.433-670G>C)
c.550-670G>C (n.550-670G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.23321511G=CA2123399907BCL2L2-PABPN1,PABPN1c.42G= (p.Ala14=)
c.529-670G= (n.529-670G=)
c.433-670G= (n.433-670G=)
c.550-670G= (n.550-670G=)
14g.23321511G>TCA485761701BCL2L2-PABPN1,PABPN1c.42G>T (p.Ala14=)
c.529-670G>T (n.529-670G>T)
c.433-670G>T (n.433-670G>T)
c.550-670G>T (n.550-670G>T)
 gnomAD v4
14g.23321513dupCA961074332BCL2L2-PABPN1,PABPN1c.44dup (p.Gly16ArgfsTer?)
c.529-668dup (n.529-668dup)
c.433-668dup (n.433-668dup)
c.550-668dup (n.550-668dup)
 dbSNP gnomAD v3 gnomAD v4
14g.23321512G>ACA388967041BCL2L2-PABPN1,PABPN1c.43G>A (p.Gly15Ser)
c.529-669G>A (n.529-669G>A)
c.433-669G>A (n.433-669G>A)
c.550-669G>A (n.550-669G>A)
 dbSNP gnomAD v3 gnomAD v4
14g.23321512G>CCA388967043BCL2L2-PABPN1,PABPN1c.43G>C (p.Gly15Arg)
c.529-669G>C (n.529-669G>C)
c.433-669G>C (n.433-669G>C)
c.550-669G>C (n.550-669G>C)
 gnomAD v4
14g.23321512G=CA2123399911BCL2L2-PABPN1,PABPN1c.43G= (p.Gly15=)
c.529-669G= (n.529-669G=)
c.433-669G= (n.433-669G=)
c.550-669G= (n.550-669G=)
14g.23321512G>TCA388967045BCL2L2-PABPN1,PABPN1c.43G>T (p.Gly15Cys)
c.529-669G>T (n.529-669G>T)
c.433-669G>T (n.433-669G>T)
c.550-669G>T (n.550-669G>T)
14g.23321513G>ACA388967051BCL2L2-PABPN1,PABPN1c.44G>A (p.Gly15Asp)
c.529-668G>A (n.529-668G>A)
c.433-668G>A (n.433-668G>A)
c.550-668G>A (n.550-668G>A)
 dbSNP gnomAD v3 gnomAD v4
14g.23321513G>CCA388967049BCL2L2-PABPN1,PABPN1c.44G>C (p.Gly15Ala)
c.529-668G>C (n.529-668G>C)
c.433-668G>C (n.433-668G>C)
c.550-668G>C (n.550-668G>C)
14g.23321513G=CA2123399914BCL2L2-PABPN1,PABPN1c.44G= (p.Gly15=)
c.529-668G= (n.529-668G=)
c.433-668G= (n.433-668G=)
c.550-668G= (n.550-668G=)
14g.23321513G>TCA388967048BCL2L2-PABPN1,PABPN1c.44G>T (p.Gly15Val)
c.529-668G>T (n.529-668G>T)
c.433-668G>T (n.433-668G>T)
c.550-668G>T (n.550-668G>T)
 gnomAD v4
14g.23321514C>ACA257773664BCL2L2-PABPN1,PABPN1c.45C>A (p.Gly15=)
c.529-667C>A (n.529-667C>A)
c.433-667C>A (n.433-667C>A)
c.550-667C>A (n.550-667C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.23321514C=CA2123399921BCL2L2-PABPN1,PABPN1c.45C= (p.Gly15=)
c.529-667C= (n.529-667C=)
c.433-667C= (n.433-667C=)
c.550-667C= (n.550-667C=)

Number of alleles fetched