Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73450203_73450220delCA2573135765ALMS1c.3295_3312del (p.Asp1099_Thr1104del)
c.685+17912_685+17929del
c.747_764del
c.3676_3693del (p.Asp1226_Thr1231del)
c.3550_3567del (p.Asp1184_Thr1189del)
c.3679_3696del (p.Asp1227_Thr1232del)
 ClinVar dbSNP gnomAD v4
2g.73450208G>ACA427020316ALMS1c.3300G>A (p.Gln1100=)
c.685+17917G>A
c.752G>A
c.3681G>A (p.Gln1227=)
c.3555G>A (p.Gln1185=)
c.3684G>A (p.Gln1228=)
2g.73450208G>CCA347276221ALMS1c.3300G>C (p.Gln1100His)
c.685+17917G>C
c.752G>C
c.3681G>C (p.Gln1227His)
c.3555G>C (p.Gln1185His)
c.3684G>C (p.Gln1228His)
2g.73450208G>TCA347276223ALMS1c.3300G>T (p.Gln1100His)
c.685+17917G>T
c.752G>T
c.3681G>T (p.Gln1227His)
c.3555G>T (p.Gln1185His)
c.3684G>T (p.Gln1228His)
2g.73450209A>CCA347276224ALMS1c.3301A>C (p.Lys1101Gln)
c.685+17918A>C
c.753A>C
c.3682A>C (p.Lys1228Gln)
c.3556A>C (p.Lys1186Gln)
c.3685A>C (p.Lys1229Gln)
2g.73450209A>GCA347276226ALMS1c.3301A>G (p.Lys1101Glu)
c.685+17918A>G
c.753A>G
c.3682A>G (p.Lys1228Glu)
c.3556A>G (p.Lys1186Glu)
c.3685A>G (p.Lys1229Glu)
2g.73450209A>TCA347276227ALMS1c.3301A>T (p.Lys1101Ter)
c.685+17918A>T
c.753A>T
c.3682A>T (p.Lys1228Ter)
c.3556A>T (p.Lys1186Ter)
c.3685A>T (p.Lys1229Ter)
2g.73450210A=CA1260958963ALMS1c.3302A= (p.Lys1101=)
c.685+17919A=
c.754A=
c.3683A= (p.Lys1228=)
c.3557A= (p.Lys1186=)
c.3686A= (p.Lys1229=)
2g.73450210A>CCA347276229ALMS1c.3302A>C (p.Lys1101Thr)
c.685+17919A>C
c.754A>C
c.3683A>C (p.Lys1228Thr)
c.3557A>C (p.Lys1186Thr)
c.3686A>C (p.Lys1229Thr)
 dbSNP gnomAD v2
2g.73450210A>GCA1713572ALMS1c.3302A>G (p.Lys1101Arg)
c.685+17919A>G
c.754A>G
c.3683A>G (p.Lys1228Arg)
c.3557A>G (p.Lys1186Arg)
c.3686A>G (p.Lys1229Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73450210A>TCA347276231ALMS1c.3302A>T (p.Lys1101Met)
c.685+17919A>T
c.754A>T
c.3683A>T (p.Lys1228Met)
c.3557A>T (p.Lys1186Met)
c.3686A>T (p.Lys1229Met)
 dbSNP
2g.73450211G>ACA427020320ALMS1c.3303G>A (p.Lys1101=)
c.685+17920G>A
c.755G>A
c.3684G>A (p.Lys1228=)
c.3558G>A (p.Lys1186=)
c.3687G>A (p.Lys1229=)
2g.73450211G>CCA347276232ALMS1c.3303G>C (p.Lys1101Asn)
c.685+17920G>C
c.755G>C
c.3684G>C (p.Lys1228Asn)
c.3558G>C (p.Lys1186Asn)
c.3687G>C (p.Lys1229Asn)
2g.73450211G=CA1260958964ALMS1c.3303G= (p.Lys1101=)
c.685+17920G=
c.755G=
c.3684G= (p.Lys1228=)
c.3558G= (p.Lys1186=)
c.3687G= (p.Lys1229=)
2g.73450211G>TCA347276233ALMS1c.3303G>T (p.Lys1101Asn)
c.685+17920G>T
c.755G>T
c.3684G>T (p.Lys1228Asn)
c.3558G>T (p.Lys1186Asn)
c.3687G>T (p.Lys1229Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73450212A>CCA347276235ALMS1c.3304A>C (p.Thr1102Pro)
c.685+17921A>C
c.756A>C
c.3685A>C (p.Thr1229Pro)
c.3559A>C (p.Thr1187Pro)
c.3688A>C (p.Thr1230Pro)
2g.73450212A>GCA347276237ALMS1c.3304A>G (p.Thr1102Ala)
c.685+17921A>G
c.756A>G
c.3685A>G (p.Thr1229Ala)
c.3559A>G (p.Thr1187Ala)
c.3688A>G (p.Thr1230Ala)
2g.73450212A>TCA347276238ALMS1c.3304A>T (p.Thr1102Ser)
c.685+17921A>T
c.756A>T
c.3685A>T (p.Thr1229Ser)
c.3559A>T (p.Thr1187Ser)
c.3688A>T (p.Thr1230Ser)
2g.73450213C>ACA347276242ALMS1c.3305C>A (p.Thr1102Asn)
c.685+17922C>A
c.757C>A
c.3686C>A (p.Thr1229Asn)
c.3560C>A (p.Thr1187Asn)
c.3689C>A (p.Thr1230Asn)
2g.73450213C=CA1260958966ALMS1c.3305C= (p.Thr1102=)
c.685+17922C=
c.757C=
c.3686C= (p.Thr1229=)
c.3560C= (p.Thr1187=)
c.3689C= (p.Thr1230=)
2g.73450213C>GCA347276240ALMS1c.3305C>G (p.Thr1102Ser)
c.685+17922C>G
c.757C>G
c.3686C>G (p.Thr1229Ser)
c.3560C>G (p.Thr1187Ser)
c.3689C>G (p.Thr1230Ser)
2g.73450213C>TCA347276241ALMS1c.3305C>T (p.Thr1102Ile)
c.685+17922C>T
c.757C>T
c.3686C>T (p.Thr1229Ile)
c.3560C>T (p.Thr1187Ile)
c.3689C>T (p.Thr1230Ile)
 dbSNP gnomAD v2
2g.73450213_73450215delCA913090784ALMS1c.3305_3307del (p.Thr1102_Gly1103delinsArg)
c.685+17922_685+17924del
c.757_759del
c.3686_3688del (p.Thr1229_Gly1230delinsArg)
c.3560_3562del (p.Thr1187_Gly1188delinsArg)
c.3689_3691del (p.Thr1230_Gly1231delinsArg)
2g.73450213_73450215delinsCTGCA1260958965ALMS1c.3305_3307delinsCTG (p.Thr1102=)
c.685+17922_685+17924delinsCTG
c.757_759delinsCTG
c.3686_3688delinsCTG (p.Thr1229=)
c.3560_3562delinsCTG (p.Thr1187=)
c.3689_3691delinsCTG (p.Thr1230=)
2g.73450214T>ACA427020355ALMS1c.3306T>A (p.Thr1102=)
c.685+17923T>A
c.758T>A
c.3687T>A (p.Thr1229=)
c.3561T>A (p.Thr1187=)
c.3690T>A (p.Thr1230=)
2g.73450214T>CCA427020330ALMS1c.3306T>C (p.Thr1102=)
c.685+17923T>C
c.758T>C
c.3687T>C (p.Thr1229=)
c.3561T>C (p.Thr1187=)
c.3690T>C (p.Thr1230=)
2g.73450214T>GCA427020329ALMS1c.3306T>G (p.Thr1102=)
c.685+17923T>G
c.758T>G
c.3687T>G (p.Thr1229=)
c.3561T>G (p.Thr1187=)
c.3690T>G (p.Thr1230=)
2g.73450214_73450215delCA658823029ALMS1c.3306_3307del (p.Gly1103AspfsTer26)
c.685+17923_685+17924del
c.758_759del
c.3687_3688del (p.Gly1230AspfsTer26)
c.3561_3562del (p.Gly1188AspfsTer26)
c.3690_3691del (p.Gly1231AspfsTer26)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73450215G>ACA347276243ALMS1c.3307G>A (p.Gly1103Arg)
c.685+17924G>A
c.759G>A
c.3688G>A (p.Gly1230Arg)
c.3562G>A (p.Gly1188Arg)
c.3691G>A (p.Gly1231Arg)
2g.73450215G>CCA347276245ALMS1c.3307G>C (p.Gly1103Arg)
c.685+17924G>C
c.759G>C
c.3688G>C (p.Gly1230Arg)
c.3562G>C (p.Gly1188Arg)
c.3691G>C (p.Gly1231Arg)
2g.73450215G>TCA347276246ALMS1c.3307G>T (p.Gly1103Trp)
c.685+17924G>T
c.759G>T
c.3688G>T (p.Gly1230Trp)
c.3562G>T (p.Gly1188Trp)
c.3691G>T (p.Gly1231Trp)
2g.73450216G>ACA1713573ALMS1c.3308G>A (p.Gly1103Glu)
c.685+17925G>A
c.760G>A
c.3689G>A (p.Gly1230Glu)
c.3563G>A (p.Gly1188Glu)
c.3692G>A (p.Gly1231Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73450216G>CCA347276248ALMS1c.3308G>C (p.Gly1103Ala)
c.685+17925G>C
c.760G>C
c.3689G>C (p.Gly1230Ala)
c.3563G>C (p.Gly1188Ala)
c.3692G>C (p.Gly1231Ala)
2g.73450216G=CA1260958967ALMS1c.3308G= (p.Gly1103=)
c.685+17925G=
c.760G=
c.3689G= (p.Gly1230=)
c.3563G= (p.Gly1188=)
c.3692G= (p.Gly1231=)
2g.73450216G>TCA347276250ALMS1c.3308G>T (p.Gly1103Val)
c.685+17925G>T
c.760G>T
c.3689G>T (p.Gly1230Val)
c.3563G>T (p.Gly1188Val)
c.3692G>T (p.Gly1231Val)
 gnomAD v3 gnomAD v4
2g.73450217G>ACA16604370ALMS1c.3309G>A (p.Gly1103=)
c.685+17926G>A
c.761G>A
c.3690G>A (p.Gly1230=)
c.3564G>A (p.Gly1188=)
c.3693G>A (p.Gly1231=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73450217G>CCA427020365ALMS1c.3309G>C (p.Gly1103=)
c.685+17926G>C
c.761G>C
c.3690G>C (p.Gly1230=)
c.3564G>C (p.Gly1188=)
c.3693G>C (p.Gly1231=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73450217G=CA1260958968ALMS1c.3309G= (p.Gly1103=)
c.685+17926G=
c.761G=
c.3690G= (p.Gly1230=)
c.3564G= (p.Gly1188=)
c.3693G= (p.Gly1231=)
2g.73450217G>TCA427020366ALMS1c.3309G>T (p.Gly1103=)
c.685+17926G>T
c.761G>T
c.3690G>T (p.Gly1230=)
c.3564G>T (p.Gly1188=)
c.3693G>T (p.Gly1231=)
2g.73450218A>CCA347276251ALMS1c.3310A>C (p.Thr1104Pro)
c.685+17927A>C
c.762A>C
c.3691A>C (p.Thr1231Pro)
c.3565A>C (p.Thr1189Pro)
c.3694A>C (p.Thr1232Pro)
2g.73450218A>GCA347276253ALMS1c.3310A>G (p.Thr1104Ala)
c.685+17927A>G
c.762A>G
c.3691A>G (p.Thr1231Ala)
c.3565A>G (p.Thr1189Ala)
c.3694A>G (p.Thr1232Ala)
 gnomAD v4
2g.73450218A>TCA347276254ALMS1c.3310A>T (p.Thr1104Ser)
c.685+17927A>T
c.762A>T
c.3691A>T (p.Thr1231Ser)
c.3565A>T (p.Thr1189Ser)
c.3694A>T (p.Thr1232Ser)
2g.73450219C>ACA347276256ALMS1c.3311C>A (p.Thr1104Lys)
c.685+17928C>A
c.763C>A
c.3692C>A (p.Thr1231Lys)
c.3566C>A (p.Thr1189Lys)
c.3695C>A (p.Thr1232Lys)
2g.73450219C=CA1260958969ALMS1c.3311C= (p.Thr1104=)
c.685+17928C=
c.763C=
c.3692C= (p.Thr1231=)
c.3566C= (p.Thr1189=)
c.3695C= (p.Thr1232=)
2g.73450219C>GCA347276257ALMS1c.3311C>G (p.Thr1104Arg)
c.685+17928C>G
c.763C>G
c.3692C>G (p.Thr1231Arg)
c.3566C>G (p.Thr1189Arg)
c.3695C>G (p.Thr1232Arg)
2g.73450219C>TCA347276258ALMS1c.3311C>T (p.Thr1104Ile)
c.685+17928C>T
c.763C>T
c.3692C>T (p.Thr1231Ile)
c.3566C>T (p.Thr1189Ile)
c.3695C>T (p.Thr1232Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.73450220A>CCA427020374ALMS1c.3312A>C (p.Thr1104=)
c.685+17929A>C
c.764A>C
c.3693A>C (p.Thr1231=)
c.3567A>C (p.Thr1189=)
c.3696A>C (p.Thr1232=)
 gnomAD v4
2g.73450220A>GCA427020375ALMS1c.3312A>G (p.Thr1104=)
c.685+17929A>G
c.764A>G
c.3693A>G (p.Thr1231=)
c.3567A>G (p.Thr1189=)
c.3696A>G (p.Thr1232=)
2g.73450220A>TCA427020376ALMS1c.3312A>T (p.Thr1104=)
c.685+17929A>T
c.764A>T
c.3693A>T (p.Thr1231=)
c.3567A>T (p.Thr1189=)
c.3696A>T (p.Thr1232=)
2g.73450221C>ACA347276260ALMS1c.3313C>A (p.Pro1105Thr)
c.685+17930C>A
c.765C>A
c.3694C>A (p.Pro1232Thr)
c.3568C>A (p.Pro1190Thr)
c.3697C>A (p.Pro1233Thr)
2g.73450221C=CA1260958970ALMS1c.3313C= (p.Pro1105=)
c.685+17930C=
c.765C=
c.3694C= (p.Pro1232=)
c.3568C= (p.Pro1190=)
c.3697C= (p.Pro1233=)
2g.73450221C>GCA347276262ALMS1c.3313C>G (p.Pro1105Ala)
c.685+17930C>G
c.765C>G
c.3694C>G (p.Pro1232Ala)
c.3568C>G (p.Pro1190Ala)
c.3697C>G (p.Pro1233Ala)
2g.73450221C>TCA347276259ALMS1c.3313C>T (p.Pro1105Ser)
c.685+17930C>T
c.765C>T
c.3694C>T (p.Pro1232Ser)
c.3568C>T (p.Pro1190Ser)
c.3697C>T (p.Pro1233Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73450222C>ACA347276263ALMS1c.3314C>A (p.Pro1105Gln)
c.685+17931C>A
c.766C>A
c.3695C>A (p.Pro1232Gln)
c.3569C>A (p.Pro1190Gln)
c.3698C>A (p.Pro1233Gln)
2g.73450222C=CA1260958971ALMS1c.3314C= (p.Pro1105=)
c.685+17931C=
c.766C=
c.3695C= (p.Pro1232=)
c.3569C= (p.Pro1190=)
c.3698C= (p.Pro1233=)
2g.73450222C>GCA347276265ALMS1c.3314C>G (p.Pro1105Arg)
c.685+17931C>G
c.766C>G
c.3695C>G (p.Pro1232Arg)
c.3569C>G (p.Pro1190Arg)
c.3698C>G (p.Pro1233Arg)
2g.73450222C>TCA347276266ALMS1c.3314C>T (p.Pro1105Leu)
c.685+17931C>T
c.766C>T
c.3695C>T (p.Pro1232Leu)
c.3569C>T (p.Pro1190Leu)
c.3698C>T (p.Pro1233Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.73450223A=CA1260958972ALMS1c.3315A= (p.Pro1105=)
c.685+17932A=
c.767A=
c.3696A= (p.Pro1232=)
c.3570A= (p.Pro1190=)
c.3699A= (p.Pro1233=)
2g.73450223A>CCA427020384ALMS1c.3315A>C (p.Pro1105=)
c.685+17932A>C
c.767A>C
c.3696A>C (p.Pro1232=)
c.3570A>C (p.Pro1190=)
c.3699A>C (p.Pro1233=)
2g.73450223A>GCA1713574ALMS1c.3315A>G (p.Pro1105=)
c.685+17932A>G
c.767A>G
c.3696A>G (p.Pro1232=)
c.3570A>G (p.Pro1190=)
c.3699A>G (p.Pro1233=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73450223A>TCA427020386ALMS1c.3315A>T (p.Pro1105=)
c.685+17932A>T
c.767A>T
c.3696A>T (p.Pro1232=)
c.3570A>T (p.Pro1190=)
c.3699A>T (p.Pro1233=)
2g.73450224A>CCA347276267ALMS1c.3316A>C (p.Thr1106Pro)
c.685+17933A>C
c.768A>C
c.3697A>C (p.Thr1233Pro)
c.3571A>C (p.Thr1191Pro)
c.3700A>C (p.Thr1234Pro)
2g.73450224A>GCA347276268ALMS1c.3316A>G (p.Thr1106Ala)
c.685+17933A>G
c.768A>G
c.3697A>G (p.Thr1233Ala)
c.3571A>G (p.Thr1191Ala)
c.3700A>G (p.Thr1234Ala)
 gnomAD v4
2g.73450224A>TCA347276269ALMS1c.3316A>T (p.Thr1106Ser)
c.685+17933A>T
c.768A>T
c.3697A>T (p.Thr1233Ser)
c.3571A>T (p.Thr1191Ser)
c.3700A>T (p.Thr1234Ser)
2g.73450225C>ACA347276271ALMS1c.3317C>A (p.Thr1106Asn)
c.685+17934C>A
c.769C>A
c.3698C>A (p.Thr1233Asn)
c.3572C>A (p.Thr1191Asn)
c.3701C>A (p.Thr1234Asn)
2g.73450225C>GCA347276273ALMS1c.3317C>G (p.Thr1106Ser)
c.685+17934C>G
c.769C>G
c.3698C>G (p.Thr1233Ser)
c.3572C>G (p.Thr1191Ser)
c.3701C>G (p.Thr1234Ser)
2g.73450225C>TCA347276274ALMS1c.3317C>T (p.Thr1106Ile)
c.685+17934C>T
c.769C>T
c.3698C>T (p.Thr1233Ile)
c.3572C>T (p.Thr1191Ile)
c.3701C>T (p.Thr1234Ile)
 gnomAD v3 gnomAD v4
2g.73450226T>ACA427020388ALMS1c.3318T>A (p.Thr1106=)
c.685+17935T>A
c.770T>A
c.3699T>A (p.Thr1233=)
c.3573T>A (p.Thr1191=)
c.3702T>A (p.Thr1234=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73450226T>CCA427020391ALMS1c.3318T>C (p.Thr1106=)
c.685+17935T>C
c.770T>C
c.3699T>C (p.Thr1233=)
c.3573T>C (p.Thr1191=)
c.3702T>C (p.Thr1234=)
2g.73450226T>GCA427020392ALMS1c.3318T>G (p.Thr1106=)
c.685+17935T>G
c.770T>G
c.3699T>G (p.Thr1233=)
c.3573T>G (p.Thr1191=)
c.3702T>G (p.Thr1234=)
2g.73450226T=CA1260958973ALMS1c.3318T= (p.Thr1106=)
c.685+17935T=
c.770T=
c.3699T= (p.Thr1233=)
c.3573T= (p.Thr1191=)
c.3702T= (p.Thr1234=)
2g.73450226_73450227insTTACA2659618865ALMS1c.3318_3319insTTA (p.Thr1106_Pro1107insLeu)
c.685+17935_685+17936insTTA
c.770_771insTTA
c.3699_3700insTTA (p.Thr1233_Pro1234insLeu)
c.3573_3574insTTA (p.Thr1191_Pro1192insLeu)
c.3702_3703insTTA (p.Thr1234_Pro1235insLeu)
 gnomAD v4
2g.73450227C>ACA347276275ALMS1c.3319C>A (p.Pro1107Thr)
c.685+17936C>A
c.771C>A
c.3700C>A (p.Pro1234Thr)
c.3574C>A (p.Pro1192Thr)
c.3703C>A (p.Pro1235Thr)
2g.73450227C=CA1260958974ALMS1c.3319C= (p.Pro1107=)
c.685+17936C=
c.771C=
c.3700C= (p.Pro1234=)
c.3574C= (p.Pro1192=)
c.3703C= (p.Pro1235=)
2g.73450227C>GCA347276277ALMS1c.3319C>G (p.Pro1107Ala)
c.685+17936C>G
c.771C>G
c.3700C>G (p.Pro1234Ala)
c.3574C>G (p.Pro1192Ala)
c.3703C>G (p.Pro1235Ala)
 gnomAD v3 gnomAD v4
2g.73450227C>TCA1713575ALMS1c.3319C>T (p.Pro1107Ser)
c.685+17936C>T
c.771C>T
c.3700C>T (p.Pro1234Ser)
c.3574C>T (p.Pro1192Ser)
c.3703C>T (p.Pro1235Ser)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.73450228C>ACA347276281ALMS1c.3320C>A (p.Pro1107Gln)
c.685+17937C>A
c.772C>A
c.3701C>A (p.Pro1234Gln)
c.3575C>A (p.Pro1192Gln)
c.3704C>A (p.Pro1235Gln)
 ClinVar
2g.73450228C=CA1260958975ALMS1c.3320C= (p.Pro1107=)
c.685+17937C=
c.772C=
c.3701C= (p.Pro1234=)
c.3575C= (p.Pro1192=)
c.3704C= (p.Pro1235=)
2g.73450228C>GCA347276279ALMS1c.3320C>G (p.Pro1107Arg)
c.685+17937C>G
c.772C>G
c.3701C>G (p.Pro1234Arg)
c.3575C>G (p.Pro1192Arg)
c.3704C>G (p.Pro1235Arg)
2g.73450228C>TCA1713576ALMS1c.3320C>T (p.Pro1107Leu)
c.685+17937C>T
c.772C>T
c.3701C>T (p.Pro1234Leu)
c.3575C>T (p.Pro1192Leu)
c.3704C>T (p.Pro1235Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73450229A>CCA427020397ALMS1c.3321A>C (p.Pro1107=)
c.685+17938A>C
c.773A>C
c.3702A>C (p.Pro1234=)
c.3576A>C (p.Pro1192=)
c.3705A>C (p.Pro1235=)
2g.73450229A>GCA427020398ALMS1c.3321A>G (p.Pro1107=)
c.685+17938A>G
c.773A>G
c.3702A>G (p.Pro1234=)
c.3576A>G (p.Pro1192=)
c.3705A>G (p.Pro1235=)
2g.73450229A>TCA427020399ALMS1c.3321A>T (p.Pro1107=)
c.685+17938A>T
c.773A>T
c.3702A>T (p.Pro1234=)
c.3576A>T (p.Pro1192=)
c.3705A>T (p.Pro1235=)
2g.73450230A=CA1260958976ALMS1c.3322A= (p.Thr1108=)
c.685+17939A=
c.774A=
c.3703A= (p.Thr1235=)
c.3577A= (p.Thr1193=)
c.3706A= (p.Thr1236=)
2g.73450230A>CCA347276282ALMS1c.3322A>C (p.Thr1108Pro)
c.685+17939A>C
c.774A>C
c.3703A>C (p.Thr1235Pro)
c.3577A>C (p.Thr1193Pro)
c.3706A>C (p.Thr1236Pro)
 gnomAD v3 gnomAD v4
2g.73450230A>GCA1713577ALMS1c.3322A>G (p.Thr1108Ala)
c.685+17939A>G
c.774A>G
c.3703A>G (p.Thr1235Ala)
c.3577A>G (p.Thr1193Ala)
c.3706A>G (p.Thr1236Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73450230A>TCA347276283ALMS1c.3322A>T (p.Thr1108Ser)
c.685+17939A>T
c.774A>T
c.3703A>T (p.Thr1235Ser)
c.3577A>T (p.Thr1193Ser)
c.3706A>T (p.Thr1236Ser)
2g.73450231C>ACA347276284ALMS1c.3323C>A (p.Thr1108Asn)
c.685+17940C>A
c.775C>A
c.3704C>A (p.Thr1235Asn)
c.3578C>A (p.Thr1193Asn)
c.3707C>A (p.Thr1236Asn)
2g.73450231C=CA1260958977ALMS1c.3323C= (p.Thr1108=)
c.685+17940C=
c.775C=
c.3704C= (p.Thr1235=)
c.3578C= (p.Thr1193=)
c.3707C= (p.Thr1236=)
2g.73450231C>GCA347276285ALMS1c.3323C>G (p.Thr1108Ser)
c.685+17940C>G
c.775C>G
c.3704C>G (p.Thr1235Ser)
c.3578C>G (p.Thr1193Ser)
c.3707C>G (p.Thr1236Ser)
2g.73450231C>TCA1713578ALMS1c.3323C>T (p.Thr1108Ile)
c.685+17940C>T
c.775C>T
c.3704C>T (p.Thr1235Ile)
c.3578C>T (p.Thr1193Ile)
c.3707C>T (p.Thr1236Ile)
 dbSNP ExAC gnomAD v2
2g.73450232delCA2659618866ALMS1c.3324del (p.Ser1109LeufsTer28)
c.685+17941del
c.776del
c.3705del (p.Ser1236LeufsTer28)
c.3579del (p.Ser1194LeufsTer28)
c.3708del (p.Ser1237LeufsTer28)
 gnomAD v4
2g.73450232C>ACA427020403ALMS1c.3324C>A (p.Thr1108=)
c.685+17941C>A
c.776C>A
c.3705C>A (p.Thr1235=)
c.3579C>A (p.Thr1193=)
c.3708C>A (p.Thr1236=)
2g.73450232C>GCA427020404ALMS1c.3324C>G (p.Thr1108=)
c.685+17941C>G
c.776C>G
c.3705C>G (p.Thr1235=)
c.3579C>G (p.Thr1193=)
c.3708C>G (p.Thr1236=)
 ClinVar dbSNP
2g.73450232C>TCA427020405ALMS1c.3324C>T (p.Thr1108=)
c.685+17941C>T
c.776C>T
c.3705C>T (p.Thr1235=)
c.3579C>T (p.Thr1193=)
c.3708C>T (p.Thr1236=)
 gnomAD v4
2g.73450233T>ACA347276287ALMS1c.3325T>A (p.Ser1109Thr)
c.685+17942T>A
c.777T>A
c.3706T>A (p.Ser1236Thr)
c.3580T>A (p.Ser1194Thr)
c.3709T>A (p.Ser1237Thr)
 ClinVar
2g.73450233T>CCA347276289ALMS1c.3325T>C (p.Ser1109Pro)
c.685+17942T>C
c.777T>C
c.3706T>C (p.Ser1236Pro)
c.3580T>C (p.Ser1194Pro)
c.3709T>C (p.Ser1237Pro)
 ClinVar
2g.73450233T>GCA347276291ALMS1c.3325T>G (p.Ser1109Ala)
c.685+17942T>G
c.777T>G
c.3706T>G (p.Ser1236Ala)
c.3580T>G (p.Ser1194Ala)
c.3709T>G (p.Ser1237Ala)
2g.73450234C>ACA347276292ALMS1c.3326C>A (p.Ser1109Tyr)
c.685+17943C>A
c.778C>A
c.3707C>A (p.Ser1236Tyr)
c.3581C>A (p.Ser1194Tyr)
c.3710C>A (p.Ser1237Tyr)
2g.73450234C>GCA347276293ALMS1c.3326C>G (p.Ser1109Cys)
c.685+17943C>G
c.778C>G
c.3707C>G (p.Ser1236Cys)
c.3581C>G (p.Ser1194Cys)
c.3710C>G (p.Ser1237Cys)
2g.73450234C>TCA347276295ALMS1c.3326C>T (p.Ser1109Phe)
c.685+17943C>T
c.778C>T
c.3707C>T (p.Ser1236Phe)
c.3581C>T (p.Ser1194Phe)
c.3710C>T (p.Ser1237Phe)
 ClinVar
2g.73450235T>ACA427020410ALMS1c.3327T>A (p.Ser1109=)
c.685+17944T>A
c.779T>A
c.3708T>A (p.Ser1236=)
c.3582T>A (p.Ser1194=)
c.3711T>A (p.Ser1237=)
2g.73450235T>CCA427020412ALMS1c.3327T>C (p.Ser1109=)
c.685+17944T>C
c.779T>C
c.3708T>C (p.Ser1236=)
c.3582T>C (p.Ser1194=)
c.3711T>C (p.Ser1237=)
2g.73450235T>GCA427020411ALMS1c.3327T>G (p.Ser1109=)
c.685+17944T>G
c.779T>G
c.3708T>G (p.Ser1236=)
c.3582T>G (p.Ser1194=)
c.3711T>G (p.Ser1237=)
2g.73450236G>ACA50392752ALMS1c.3328G>A (p.Ala1110Thr)
c.685+17945G>A
c.780G>A
c.3709G>A (p.Ala1237Thr)
c.3583G>A (p.Ala1195Thr)
c.3712G>A (p.Ala1238Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.73450236G>CCA347276298ALMS1c.3328G>C (p.Ala1110Pro)
c.685+17945G>C
c.780G>C
c.3709G>C (p.Ala1237Pro)
c.3583G>C (p.Ala1195Pro)
c.3712G>C (p.Ala1238Pro)
2g.73450236G=CA1260958978ALMS1c.3328G= (p.Ala1110=)
c.685+17945G=
c.780G=
c.3709G= (p.Ala1237=)
c.3583G= (p.Ala1195=)
c.3712G= (p.Ala1238=)
2g.73450236G>TCA347276299ALMS1c.3328G>T (p.Ala1110Ser)
c.685+17945G>T
c.780G>T
c.3709G>T (p.Ala1237Ser)
c.3583G>T (p.Ala1195Ser)
c.3712G>T (p.Ala1238Ser)
 dbSNP
2g.73450237C>ACA347276303ALMS1c.3329C>A (p.Ala1110Asp)
c.685+17946C>A
c.781C>A
c.3710C>A (p.Ala1237Asp)
c.3584C>A (p.Ala1195Asp)
c.3713C>A (p.Ala1238Asp)
2g.73450237C>GCA347276304ALMS1c.3329C>G (p.Ala1110Gly)
c.685+17946C>G
c.781C>G
c.3710C>G (p.Ala1237Gly)
c.3584C>G (p.Ala1195Gly)
c.3713C>G (p.Ala1238Gly)
2g.73450237C>TCA347276301ALMS1c.3329C>T (p.Ala1110Val)
c.685+17946C>T
c.781C>T
c.3710C>T (p.Ala1237Val)
c.3584C>T (p.Ala1195Val)
c.3713C>T (p.Ala1238Val)
 gnomAD v4
2g.73450238T>ACA427020418ALMS1c.3330T>A (p.Ala1110=)
c.685+17947T>A
c.782T>A
c.3711T>A (p.Ala1237=)
c.3585T>A (p.Ala1195=)
c.3714T>A (p.Ala1238=)
2g.73450238T>CCA427020419ALMS1c.3330T>C (p.Ala1110=)
c.685+17947T>C
c.782T>C
c.3711T>C (p.Ala1237=)
c.3585T>C (p.Ala1195=)
c.3714T>C (p.Ala1238=)
2g.73450238T>GCA427020420ALMS1c.3330T>G (p.Ala1110=)
c.685+17947T>G
c.782T>G
c.3711T>G (p.Ala1237=)
c.3585T>G (p.Ala1195=)
c.3714T>G (p.Ala1238=)
2g.73450239_73450242delCA2697548312ALMS1c.3331_3334del (p.Ser1111ThrfsTer25)
c.685+17948_685+17951del
c.783_786del
c.3712_3715del (p.Ser1238ThrfsTer25)
c.3586_3589del (p.Ser1196ThrfsTer25)
c.3715_3718del (p.Ser1239ThrfsTer25)
 ClinVar
2g.73450239T>ACA347276305ALMS1c.3331T>A (p.Ser1111Thr)
c.685+17948T>A
c.783T>A
c.3712T>A (p.Ser1238Thr)
c.3586T>A (p.Ser1196Thr)
c.3715T>A (p.Ser1239Thr)
2g.73450239T>CCA347276307ALMS1c.3331T>C (p.Ser1111Pro)
c.685+17948T>C
c.783T>C
c.3712T>C (p.Ser1238Pro)
c.3586T>C (p.Ser1196Pro)
c.3715T>C (p.Ser1239Pro)
2g.73450239T>GCA347276308ALMS1c.3331T>G (p.Ser1111Ala)
c.685+17948T>G
c.783T>G
c.3712T>G (p.Ser1238Ala)
c.3586T>G (p.Ser1196Ala)
c.3715T>G (p.Ser1239Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73450239T=CA1260958979ALMS1c.3331T= (p.Ser1111=)
c.685+17948T=
c.783T=
c.3712T= (p.Ser1238=)
c.3586T= (p.Ser1196=)
c.3715T= (p.Ser1239=)
2g.73450240C>ACA347276309ALMS1c.3332C>A (p.Ser1111Tyr)
c.685+17949C>A
c.784C>A
c.3713C>A (p.Ser1238Tyr)
c.3587C>A (p.Ser1196Tyr)
c.3716C>A (p.Ser1239Tyr)
2g.73450240C>GCA347276310ALMS1c.3332C>G (p.Ser1111Cys)
c.685+17949C>G
c.784C>G
c.3713C>G (p.Ser1238Cys)
c.3587C>G (p.Ser1196Cys)
c.3716C>G (p.Ser1239Cys)
2g.73450240C>TCA347276311ALMS1c.3332C>T (p.Ser1111Phe)
c.685+17949C>T
c.784C>T
c.3713C>T (p.Ser1238Phe)
c.3587C>T (p.Ser1196Phe)
c.3716C>T (p.Ser1239Phe)
 gnomAD v3 gnomAD v4
2g.73450241T>ACA427020426ALMS1c.3333T>A (p.Ser1111=)
c.685+17950T>A
c.785T>A
c.3714T>A (p.Ser1238=)
c.3588T>A (p.Ser1196=)
c.3717T>A (p.Ser1239=)
2g.73450241T>CCA427020427ALMS1c.3333T>C (p.Ser1111=)
c.685+17950T>C
c.785T>C
c.3714T>C (p.Ser1238=)
c.3588T>C (p.Ser1196=)
c.3717T>C (p.Ser1239=)
 dbSNP gnomAD v3 gnomAD v4
2g.73450241T>GCA1713579ALMS1c.3333T>G (p.Ser1111=)
c.685+17950T>G
c.785T>G
c.3714T>G (p.Ser1238=)
c.3588T>G (p.Ser1196=)
c.3717T>G (p.Ser1239=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73450241T=CA1260958980ALMS1c.3333T= (p.Ser1111=)
c.685+17950T=
c.785T=
c.3714T= (p.Ser1238=)
c.3588T= (p.Ser1196=)
c.3717T= (p.Ser1239=)
2g.73450242T>ACA347276313ALMS1c.3334T>A (p.Tyr1112Asn)
c.685+17951T>A
c.786T>A
c.3715T>A (p.Tyr1239Asn)
c.3589T>A (p.Tyr1197Asn)
c.3718T>A (p.Tyr1240Asn)
2g.73450242T>CCA347276318ALMS1c.3334T>C (p.Tyr1112His)
c.685+17951T>C
c.786T>C
c.3715T>C (p.Tyr1239His)
c.3589T>C (p.Tyr1197His)
c.3718T>C (p.Tyr1240His)
2g.73450242T>GCA347276315ALMS1c.3334T>G (p.Tyr1112Asp)
c.685+17951T>G
c.786T>G
c.3715T>G (p.Tyr1239Asp)
c.3589T>G (p.Tyr1197Asp)
c.3718T>G (p.Tyr1240Asp)
2g.73450242_73450246delinsTACTCCA1260958981ALMS1c.3334_3338delinsTACTC (p.Tyr1112=)
c.685+17951_685+17955delinsTACTC
c.786_790delinsTACTC
c.3715_3719delinsTACTC (p.Tyr1239=)
c.3589_3593delinsTACTC (p.Tyr1197=)
c.3718_3722delinsTACTC (p.Tyr1240=)
2g.73450243A=CA1260958982ALMS1c.3335A= (p.Tyr1112=)
c.685+17952A=
c.787A=
c.3716A= (p.Tyr1239=)
c.3590A= (p.Tyr1197=)
c.3719A= (p.Tyr1240=)
2g.73450243A>CCA347276323ALMS1c.3335A>C (p.Tyr1112Ser)
c.685+17952A>C
c.787A>C
c.3716A>C (p.Tyr1239Ser)
c.3590A>C (p.Tyr1197Ser)
c.3719A>C (p.Tyr1240Ser)
2g.73450243A>GCA1713580ALMS1c.3335A>G (p.Tyr1112Cys)
c.685+17952A>G
c.787A>G
c.3716A>G (p.Tyr1239Cys)
c.3590A>G (p.Tyr1197Cys)
c.3719A>G (p.Tyr1240Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73450243A>TCA347276324ALMS1c.3335A>T (p.Tyr1112Phe)
c.685+17952A>T
c.787A>T
c.3716A>T (p.Tyr1239Phe)
c.3590A>T (p.Tyr1197Phe)
c.3719A>T (p.Tyr1240Phe)
2g.73450245_73450248delCA50392765ALMS1c.3337_3340del (p.Ser1113ThrfsTer23)
c.685+17954_685+17957del
c.789_792del
c.3718_3721del (p.Ser1240ThrfsTer23)
c.3592_3595del (p.Ser1198ThrfsTer23)
c.3721_3724del (p.Ser1241ThrfsTer23)
 ClinVar dbSNP gnomAD v4
2g.73450244C>ACA347276326ALMS1c.3336C>A (p.Tyr1112Ter)
c.685+17953C>A
c.788C>A
c.3717C>A (p.Tyr1239Ter)
c.3591C>A (p.Tyr1197Ter)
c.3720C>A (p.Tyr1240Ter)
2g.73450244C=CA1260958983ALMS1c.3336C= (p.Tyr1112=)
c.685+17953C=
c.788C=
c.3717C= (p.Tyr1239=)
c.3591C= (p.Tyr1197=)
c.3720C= (p.Tyr1240=)
2g.73450244C>GCA347276327ALMS1c.3336C>G (p.Tyr1112Ter)
c.685+17953C>G
c.788C>G
c.3717C>G (p.Tyr1239Ter)
c.3591C>G (p.Tyr1197Ter)
c.3720C>G (p.Tyr1240Ter)
2g.73450244C>TCA427020440ALMS1c.3336C>T (p.Tyr1112=)
c.685+17953C>T
c.788C>T
c.3717C>T (p.Tyr1239=)
c.3591C>T (p.Tyr1197=)
c.3720C>T (p.Tyr1240=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73450245T>ACA347276328ALMS1c.3337T>A (p.Ser1113Thr)
c.685+17954T>A
c.789T>A
c.3718T>A (p.Ser1240Thr)
c.3592T>A (p.Ser1198Thr)
c.3721T>A (p.Ser1241Thr)
2g.73450245T>CCA347276329ALMS1c.3337T>C (p.Ser1113Pro)
c.685+17954T>C
c.789T>C
c.3718T>C (p.Ser1240Pro)
c.3592T>C (p.Ser1198Pro)
c.3721T>C (p.Ser1241Pro)
2g.73450245T>GCA347276330ALMS1c.3337T>G (p.Ser1113Ala)
c.685+17954T>G
c.789T>G
c.3718T>G (p.Ser1240Ala)
c.3592T>G (p.Ser1198Ala)
c.3721T>G (p.Ser1241Ala)
2g.73450246C>ACA347276331ALMS1c.3338C>A (p.Ser1113Ter)
c.685+17955C>A
c.790C>A
c.3719C>A (p.Ser1240Ter)
c.3593C>A (p.Ser1198Ter)
c.3722C>A (p.Ser1241Ter)
2g.73450246C>GCA347276332ALMS1c.3338C>G (p.Ser1113Ter)
c.685+17955C>G
c.790C>G
c.3719C>G (p.Ser1240Ter)
c.3593C>G (p.Ser1198Ter)
c.3722C>G (p.Ser1241Ter)
2g.73450246C>TCA347276334ALMS1c.3338C>T (p.Ser1113Leu)
c.685+17955C>T
c.790C>T
c.3719C>T (p.Ser1240Leu)
c.3593C>T (p.Ser1198Leu)
c.3722C>T (p.Ser1241Leu)
2g.73450247A>CCA427020445ALMS1c.3339A>C (p.Ser1113=)
c.685+17956A>C
c.791A>C
c.3720A>C (p.Ser1240=)
c.3594A>C (p.Ser1198=)
c.3723A>C (p.Ser1241=)
 gnomAD v4
2g.73450247A>GCA427020447ALMS1c.3339A>G (p.Ser1113=)
c.685+17956A>G
c.791A>G
c.3720A>G (p.Ser1240=)
c.3594A>G (p.Ser1198=)
c.3723A>G (p.Ser1241=)
2g.73450247A>TCA427020446ALMS1c.3339A>T (p.Ser1113=)
c.685+17956A>T
c.791A>T
c.3720A>T (p.Ser1240=)
c.3594A>T (p.Ser1198=)
c.3723A>T (p.Ser1241=)
2g.73450248C>ACA347276337ALMS1c.3340C>A (p.His1114Asn)
c.685+17957C>A
c.792C>A
c.3721C>A (p.His1241Asn)
c.3595C>A (p.His1199Asn)
c.3724C>A (p.His1242Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.73450248C=CA1260958984ALMS1c.3340C= (p.His1114=)
c.685+17957C=
c.792C=
c.3721C= (p.His1241=)
c.3595C= (p.His1199=)
c.3724C= (p.His1242=)
2g.73450248C>GCA347276339ALMS1c.3340C>G (p.His1114Asp)
c.685+17957C>G
c.792C>G
c.3721C>G (p.His1241Asp)
c.3595C>G (p.His1199Asp)
c.3724C>G (p.His1242Asp)
2g.73450248C>TCA50392772ALMS1c.3340C>T (p.His1114Tyr)
c.685+17957C>T
c.792C>T
c.3721C>T (p.His1241Tyr)
c.3595C>T (p.His1199Tyr)
c.3724C>T (p.His1242Tyr)
 dbSNP gnomAD v4
2g.73450249A>CCA347276344ALMS1c.3341A>C (p.His1114Pro)
c.685+17958A>C
c.793A>C
c.3722A>C (p.His1241Pro)
c.3596A>C (p.His1199Pro)
c.3725A>C (p.His1242Pro)
2g.73450249A>GCA347276347ALMS1c.3341A>G (p.His1114Arg)
c.685+17958A>G
c.793A>G
c.3722A>G (p.His1241Arg)
c.3596A>G (p.His1199Arg)
c.3725A>G (p.His1242Arg)
 gnomAD v4
2g.73450249A>TCA347276349ALMS1c.3341A>T (p.His1114Leu)
c.685+17958A>T
c.793A>T
c.3722A>T (p.His1241Leu)
c.3596A>T (p.His1199Leu)
c.3725A>T (p.His1242Leu)
2g.73450249dupCA2542580546ALMS1c.3341dup (p.His1114GlnfsTer16)
c.685+17958dup
c.793dup
c.3722dup (p.His1241GlnfsTer16)
c.3596dup (p.His1199GlnfsTer16)
c.3725dup (p.His1242GlnfsTer16)
2g.73450250C>ACA347276351ALMS1c.3342C>A (p.His1114Gln)
c.685+17959C>A
c.794C>A
c.3723C>A (p.His1241Gln)
c.3597C>A (p.His1199Gln)
c.3726C>A (p.His1242Gln)
2g.73450250C>GCA347276353ALMS1c.3342C>G (p.His1114Gln)
c.685+17959C>G
c.794C>G
c.3723C>G (p.His1241Gln)
c.3597C>G (p.His1199Gln)
c.3726C>G (p.His1242Gln)
2g.73450250C>TCA427020453ALMS1c.3342C>T (p.His1114=)
c.685+17959C>T
c.794C>T
c.3723C>T (p.His1241=)
c.3597C>T (p.His1199=)
c.3726C>T (p.His1242=)
 ClinVar dbSNP
2g.73450251A=CA1260958985ALMS1c.3343A= (p.Thr1115=)
c.685+17960A=
c.795A=
c.3724A= (p.Thr1242=)
c.3598A= (p.Thr1200=)
c.3727A= (p.Thr1243=)
2g.73450251A>CCA347276361ALMS1c.3343A>C (p.Thr1115Pro)
c.685+17960A>C
c.795A>C
c.3724A>C (p.Thr1242Pro)
c.3598A>C (p.Thr1200Pro)
c.3727A>C (p.Thr1243Pro)
 dbSNP gnomAD v4
2g.73450251A>GCA347276364ALMS1c.3343A>G (p.Thr1115Ala)
c.685+17960A>G
c.795A>G
c.3724A>G (p.Thr1242Ala)
c.3598A>G (p.Thr1200Ala)
c.3727A>G (p.Thr1243Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73450251A>TCA347276363ALMS1c.3343A>T (p.Thr1115Ser)
c.685+17960A>T
c.795A>T
c.3724A>T (p.Thr1242Ser)
c.3598A>T (p.Thr1200Ser)
c.3727A>T (p.Thr1243Ser)
2g.73450252C>ACA347276370ALMS1c.3344C>A (p.Thr1115Lys)
c.685+17961C>A
c.796C>A
c.3725C>A (p.Thr1242Lys)
c.3599C>A (p.Thr1200Lys)
c.3728C>A (p.Thr1243Lys)
2g.73450252C=CA1260958986ALMS1c.3344C= (p.Thr1115=)
c.685+17961C=
c.796C=
c.3725C= (p.Thr1242=)
c.3599C= (p.Thr1200=)
c.3728C= (p.Thr1243=)
2g.73450252C>GCA347276374ALMS1c.3344C>G (p.Thr1115Arg)
c.685+17961C>G
c.796C>G
c.3725C>G (p.Thr1242Arg)
c.3599C>G (p.Thr1200Arg)
c.3728C>G (p.Thr1243Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73450252C>TCA347276372ALMS1c.3344C>T (p.Thr1115Ile)
c.685+17961C>T
c.796C>T
c.3725C>T (p.Thr1242Ile)
c.3599C>T (p.Thr1200Ile)
c.3728C>T (p.Thr1243Ile)
 dbSNP
2g.73450253A>CCA427020456ALMS1c.3345A>C (p.Thr1115=)
c.685+17962A>C
c.797A>C
c.3726A>C (p.Thr1242=)
c.3600A>C (p.Thr1200=)
c.3729A>C (p.Thr1243=)
2g.73450253A>GCA427020457ALMS1c.3345A>G (p.Thr1115=)
c.685+17962A>G
c.797A>G
c.3726A>G (p.Thr1242=)
c.3600A>G (p.Thr1200=)
c.3729A>G (p.Thr1243=)
 ClinVar
2g.73450253A>TCA427020458ALMS1c.3345A>T (p.Thr1115=)
c.685+17962A>T
c.797A>T
c.3726A>T (p.Thr1242=)
c.3600A>T (p.Thr1200=)
c.3729A>T (p.Thr1243=)
2g.73450256_73450257delCA2580611658ALMS1c.3348_3349del (p.Lys1117AlafsTer12)
c.685+17965_685+17966del
c.800_801del
c.3729_3730del (p.Lys1244AlafsTer12)
c.3603_3604del (p.Lys1202AlafsTer12)
c.3732_3733del (p.Lys1245AlafsTer12)
 ClinVar gnomAD v4
2g.73450254G>ACA50392790ALMS1c.3346G>A (p.Glu1116Lys)
c.685+17963G>A
c.798G>A
c.3727G>A (p.Glu1243Lys)
c.3601G>A (p.Glu1201Lys)
c.3730G>A (p.Glu1244Lys)
 dbSNP
2g.73450254G>CCA1713581ALMS1c.3346G>C (p.Glu1116Gln)
c.685+17963G>C
c.798G>C
c.3727G>C (p.Glu1243Gln)
c.3601G>C (p.Glu1201Gln)
c.3730G>C (p.Glu1244Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73450254G=CA1260958987ALMS1c.3346G= (p.Glu1116=)
c.685+17963G=
c.798G=
c.3727G= (p.Glu1243=)
c.3601G= (p.Glu1201=)
c.3730G= (p.Glu1244=)
2g.73450254G>TCA347276378ALMS1c.3346G>T (p.Glu1116Ter)
c.685+17963G>T
c.798G>T
c.3727G>T (p.Glu1243Ter)
c.3601G>T (p.Glu1201Ter)
c.3730G>T (p.Glu1244Ter)
2g.73450255A>CCA347276381ALMS1c.3347A>C (p.Glu1116Ala)
c.685+17964A>C
c.799A>C
c.3728A>C (p.Glu1243Ala)
c.3602A>C (p.Glu1201Ala)
c.3731A>C (p.Glu1244Ala)
2g.73450255A>GCA347276382ALMS1c.3347A>G (p.Glu1116Gly)
c.685+17964A>G
c.799A>G
c.3728A>G (p.Glu1243Gly)
c.3602A>G (p.Glu1201Gly)
c.3731A>G (p.Glu1244Gly)
 ClinVar
2g.73450255A>TCA347276388ALMS1c.3347A>T (p.Glu1116Val)
c.685+17964A>T
c.799A>T
c.3728A>T (p.Glu1243Val)
c.3602A>T (p.Glu1201Val)
c.3731A>T (p.Glu1244Val)
2g.73450256G>ACA427020464ALMS1c.3348G>A (p.Glu1116=)
c.685+17965G>A
c.800G>A
c.3729G>A (p.Glu1243=)
c.3603G>A (p.Glu1201=)
c.3732G>A (p.Glu1244=)
2g.73450256G>CCA347276390ALMS1c.3348G>C (p.Glu1116Asp)
c.685+17965G>C
c.800G>C
c.3729G>C (p.Glu1243Asp)
c.3603G>C (p.Glu1201Asp)
c.3732G>C (p.Glu1244Asp)
2g.73450256G>TCA347276393ALMS1c.3348G>T (p.Glu1116Asp)
c.685+17965G>T
c.800G>T
c.3729G>T (p.Glu1243Asp)
c.3603G>T (p.Glu1201Asp)
c.3732G>T (p.Glu1244Asp)
 gnomAD v4
2g.73450257A=CA1260958988ALMS1c.3349A= (p.Lys1117=)
c.685+17966A=
c.801A=
c.3730A= (p.Lys1244=)
c.3604A= (p.Lys1202=)
c.3733A= (p.Lys1245=)
2g.73450257A>CCA347276395ALMS1c.3349A>C (p.Lys1117Gln)
c.685+17966A>C
c.801A>C
c.3730A>C (p.Lys1244Gln)
c.3604A>C (p.Lys1202Gln)
c.3733A>C (p.Lys1245Gln)
2g.73450257A>GCA1713582ALMS1c.3349A>G (p.Lys1117Glu)
c.685+17966A>G
c.801A>G
c.3730A>G (p.Lys1244Glu)
c.3604A>G (p.Lys1202Glu)
c.3733A>G (p.Lys1245Glu)
 ClinVar dbSNP ExAC gnomAD v4
2g.73450257A>TCA347276397ALMS1c.3349A>T (p.Lys1117Ter)
c.685+17966A>T
c.801A>T
c.3730A>T (p.Lys1244Ter)
c.3604A>T (p.Lys1202Ter)
c.3733A>T (p.Lys1245Ter)
 gnomAD v4
2g.73450258A=CA1260958989ALMS1c.3350A= (p.Lys1117=)
c.685+17967A=
c.802A=
c.3731A= (p.Lys1244=)
c.3605A= (p.Lys1202=)
c.3734A= (p.Lys1245=)
2g.73450258A>CCA347276399ALMS1c.3350A>C (p.Lys1117Thr)
c.685+17967A>C
c.802A>C
c.3731A>C (p.Lys1244Thr)
c.3605A>C (p.Lys1202Thr)
c.3734A>C (p.Lys1245Thr)
2g.73450258A>GCA347276401ALMS1c.3350A>G (p.Lys1117Arg)
c.685+17967A>G
c.802A>G
c.3731A>G (p.Lys1244Arg)
c.3605A>G (p.Lys1202Arg)
c.3734A>G (p.Lys1245Arg)
2g.73450258A>TCA347276404ALMS1c.3350A>T (p.Lys1117Met)
c.685+17967A>T
c.802A>T
c.3731A>T (p.Lys1244Met)
c.3605A>T (p.Lys1202Met)
c.3734A>T (p.Lys1245Met)
 ClinVar dbSNP
2g.73450259G>ACA203652ALMS1c.3351G>A (p.Lys1117=)
c.685+17968G>A
c.803G>A
c.3732G>A (p.Lys1244=)
c.3606G>A (p.Lys1202=)
c.3735G>A (p.Lys1245=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73450259G>CCA347276412ALMS1c.3351G>C (p.Lys1117Asn)
c.685+17968G>C
c.803G>C
c.3732G>C (p.Lys1244Asn)
c.3606G>C (p.Lys1202Asn)
c.3735G>C (p.Lys1245Asn)
2g.73450259G=CA1260958990ALMS1c.3351G= (p.Lys1117=)
c.685+17968G=
c.803G=
c.3732G= (p.Lys1244=)
c.3606G= (p.Lys1202=)
c.3735G= (p.Lys1245=)
2g.73450259G>TCA347276411ALMS1c.3351G>T (p.Lys1117Asn)
c.685+17968G>T
c.803G>T
c.3732G>T (p.Lys1244Asn)
c.3606G>T (p.Lys1202Asn)
c.3735G>T (p.Lys1245Asn)
2g.73450260C>ACA347276414ALMS1c.3352C>A (p.Pro1118Thr)
c.685+17969C>A
c.804C>A
c.3733C>A (p.Pro1245Thr)
c.3607C>A (p.Pro1203Thr)
c.3736C>A (p.Pro1246Thr)
2g.73450260C>GCA347276416ALMS1c.3352C>G (p.Pro1118Ala)
c.685+17969C>G
c.804C>G
c.3733C>G (p.Pro1245Ala)
c.3607C>G (p.Pro1203Ala)
c.3736C>G (p.Pro1246Ala)
2g.73450260C>TCA347276417ALMS1c.3352C>T (p.Pro1118Ser)
c.685+17969C>T
c.804C>T
c.3733C>T (p.Pro1245Ser)
c.3607C>T (p.Pro1203Ser)
c.3736C>T (p.Pro1246Ser)
2g.73450261C>ACA347276419ALMS1c.3353C>A (p.Pro1118His)
c.685+17970C>A
c.805C>A
c.3734C>A (p.Pro1245His)
c.3608C>A (p.Pro1203His)
c.3737C>A (p.Pro1246His)
2g.73450261C=CA1260958991ALMS1c.3353C= (p.Pro1118=)
c.685+17970C=
c.805C=
c.3734C= (p.Pro1245=)
c.3608C= (p.Pro1203=)
c.3737C= (p.Pro1246=)
2g.73450261C>GCA347276420ALMS1c.3353C>G (p.Pro1118Arg)
c.685+17970C>G
c.805C>G
c.3734C>G (p.Pro1245Arg)
c.3608C>G (p.Pro1203Arg)
c.3737C>G (p.Pro1246Arg)
 ClinVar dbSNP gnomAD v4
2g.73450261C>TCA347276421ALMS1c.3353C>T (p.Pro1118Leu)
c.685+17970C>T
c.805C>T
c.3734C>T (p.Pro1245Leu)
c.3608C>T (p.Pro1203Leu)
c.3737C>T (p.Pro1246Leu)
 ClinVar dbSNP
2g.73450262T>ACA427020475ALMS1c.3354T>A (p.Pro1118=)
c.685+17971T>A
c.806T>A
c.3735T>A (p.Pro1245=)
c.3609T>A (p.Pro1203=)
c.3738T>A (p.Pro1246=)
2g.73450262T>CCA427020477ALMS1c.3354T>C (p.Pro1118=)
c.685+17971T>C
c.806T>C
c.3735T>C (p.Pro1245=)
c.3609T>C (p.Pro1203=)
c.3738T>C (p.Pro1246=)
2g.73450262T>GCA427020479ALMS1c.3354T>G (p.Pro1118=)
c.685+17971T>G
c.806T>G
c.3735T>G (p.Pro1245=)
c.3609T>G (p.Pro1203=)
c.3738T>G (p.Pro1246=)
2g.73450263G>ACA50392794ALMS1c.3355G>A (p.Gly1119Ser)
c.685+17972G>A
c.807G>A
c.3736G>A (p.Gly1246Ser)
c.3610G>A (p.Gly1204Ser)
c.3739G>A (p.Gly1247Ser)
 dbSNP
2g.73450263G>CCA347276422ALMS1c.3355G>C (p.Gly1119Arg)
c.685+17972G>C
c.807G>C
c.3736G>C (p.Gly1246Arg)
c.3610G>C (p.Gly1204Arg)
c.3739G>C (p.Gly1247Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73450263G=CA1260958992ALMS1c.3355G= (p.Gly1119=)
c.685+17972G=
c.807G=
c.3736G= (p.Gly1246=)
c.3610G= (p.Gly1204=)
c.3739G= (p.Gly1247=)
2g.73450263G>TCA347276423ALMS1c.3355G>T (p.Gly1119Cys)
c.685+17972G>T
c.807G>T
c.3736G>T (p.Gly1246Cys)
c.3610G>T (p.Gly1204Cys)
c.3739G>T (p.Gly1247Cys)
2g.73450264G>ACA347276433ALMS1c.3356G>A (p.Gly1119Asp)
c.685+17973G>A
c.808G>A
c.3737G>A (p.Gly1246Asp)
c.3611G>A (p.Gly1204Asp)
c.3740G>A (p.Gly1247Asp)
 gnomAD v4
2g.73450264G>CCA347276435ALMS1c.3356G>C (p.Gly1119Ala)
c.685+17973G>C
c.808G>C
c.3737G>C (p.Gly1246Ala)
c.3611G>C (p.Gly1204Ala)
c.3740G>C (p.Gly1247Ala)
2g.73450264G>TCA347276425ALMS1c.3356G>T (p.Gly1119Val)
c.685+17973G>T
c.808G>T
c.3737G>T (p.Gly1246Val)
c.3611G>T (p.Gly1204Val)
c.3740G>T (p.Gly1247Val)
2g.73450265T>ACA427020659ALMS1c.3357T>A (p.Gly1119=)
c.685+17974T>A
c.809T>A
c.3738T>A (p.Gly1246=)
c.3612T>A (p.Gly1204=)
c.3741T>A (p.Gly1247=)
 ClinVar
2g.73450265T>CCA1713583ALMS1c.3357T>C (p.Gly1119=)
c.685+17974T>C
c.809T>C
c.3738T>C (p.Gly1246=)
c.3612T>C (p.Gly1204=)
c.3741T>C (p.Gly1247=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73450265T>GCA427020661ALMS1c.3357T>G (p.Gly1119=)
c.685+17974T>G
c.809T>G
c.3738T>G (p.Gly1246=)
c.3612T>G (p.Gly1204=)
c.3741T>G (p.Gly1247=)
2g.73450265T=CA1260958993ALMS1c.3357T= (p.Gly1119=)
c.685+17974T=
c.809T=
c.3738T= (p.Gly1246=)
c.3612T= (p.Gly1204=)
c.3741T= (p.Gly1247=)
2g.73450266A=CA1260958994ALMS1c.3358A= (p.Ile1120=)
c.685+17975A=
c.810A=
c.3739A= (p.Ile1247=)
c.3613A= (p.Ile1205=)
c.3742A= (p.Ile1248=)
2g.73450266A>CCA347276440ALMS1c.3358A>C (p.Ile1120Leu)
c.685+17975A>C
c.810A>C
c.3739A>C (p.Ile1247Leu)
c.3613A>C (p.Ile1205Leu)
c.3742A>C (p.Ile1248Leu)
2g.73450266A>GCA1713584ALMS1c.3358A>G (p.Ile1120Val)
c.685+17975A>G
c.810A>G
c.3739A>G (p.Ile1247Val)
c.3613A>G (p.Ile1205Val)
c.3742A>G (p.Ile1248Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73450266A>TCA347276443ALMS1c.3358A>T (p.Ile1120Phe)
c.685+17975A>T
c.810A>T
c.3739A>T (p.Ile1247Phe)
c.3613A>T (p.Ile1205Phe)
c.3742A>T (p.Ile1248Phe)
2g.73450267T>ACA347276444ALMS1c.3359T>A (p.Ile1120Asn)
c.685+17976T>A
c.811T>A
c.3740T>A (p.Ile1247Asn)
c.3614T>A (p.Ile1205Asn)
c.3743T>A (p.Ile1248Asn)
2g.73450267T>CCA347276445ALMS1c.3359T>C (p.Ile1120Thr)
c.685+17976T>C
c.811T>C
c.3740T>C (p.Ile1247Thr)
c.3614T>C (p.Ile1205Thr)
c.3743T>C (p.Ile1248Thr)
 ClinVar gnomAD v4
2g.73450267T>GCA347276446ALMS1c.3359T>G (p.Ile1120Ser)
c.685+17976T>G
c.811T>G
c.3740T>G (p.Ile1247Ser)
c.3614T>G (p.Ile1205Ser)
c.3743T>G (p.Ile1248Ser)
 gnomAD v3 gnomAD v4
2g.73450268T>ACA427020664ALMS1c.3360T>A (p.Ile1120=)
c.685+17977T>A
c.812T>A
c.3741T>A (p.Ile1247=)
c.3615T>A (p.Ile1205=)
c.3744T>A (p.Ile1248=)
2g.73450268T>CCA427020665ALMS1c.3360T>C (p.Ile1120=)
c.685+17977T>C
c.812T>C
c.3741T>C (p.Ile1247=)
c.3615T>C (p.Ile1205=)
c.3744T>C (p.Ile1248=)
2g.73450268T>GCA347276448ALMS1c.3360T>G (p.Ile1120Met)
c.685+17977T>G
c.812T>G
c.3741T>G (p.Ile1247Met)
c.3615T>G (p.Ile1205Met)
c.3744T>G (p.Ile1248Met)
2g.73450269T>ACA347276449ALMS1c.3361T>A (p.Phe1121Ile)
c.685+17978T>A
c.813T>A
c.3742T>A (p.Phe1248Ile)
c.3616T>A (p.Phe1206Ile)
c.3745T>A (p.Phe1249Ile)
2g.73450269T>CCA347276450ALMS1c.3361T>C (p.Phe1121Leu)
c.685+17978T>C
c.813T>C
c.3742T>C (p.Phe1248Leu)
c.3616T>C (p.Phe1206Leu)
c.3745T>C (p.Phe1249Leu)
2g.73450269T>GCA347276455ALMS1c.3361T>G (p.Phe1121Val)
c.685+17978T>G
c.813T>G
c.3742T>G (p.Phe1248Val)
c.3616T>G (p.Phe1206Val)
c.3745T>G (p.Phe1249Val)
2g.73450270T>ACA347276465ALMS1c.3362T>A (p.Phe1121Tyr)
c.685+17979T>A
c.814T>A
c.3743T>A (p.Phe1248Tyr)
c.3617T>A (p.Phe1206Tyr)
c.3746T>A (p.Phe1249Tyr)
2g.73450270T>CCA347276463ALMS1c.3362T>C (p.Phe1121Ser)
c.685+17979T>C
c.814T>C
c.3743T>C (p.Phe1248Ser)
c.3617T>C (p.Phe1206Ser)
c.3746T>C (p.Phe1249Ser)
2g.73450270T>GCA347276462ALMS1c.3362T>G (p.Phe1121Cys)
c.685+17979T>G
c.814T>G
c.3743T>G (p.Phe1248Cys)
c.3617T>G (p.Phe1206Cys)
c.3746T>G (p.Phe1249Cys)
2g.73450271C>ACA347276466ALMS1c.3363C>A (p.Phe1121Leu)
c.685+17980C>A
c.815C>A
c.3744C>A (p.Phe1248Leu)
c.3618C>A (p.Phe1206Leu)
c.3747C>A (p.Phe1249Leu)
2g.73450271C=CA1260958995ALMS1c.3363C= (p.Phe1121=)
c.685+17980C=
c.815C=
c.3744C= (p.Phe1248=)
c.3618C= (p.Phe1206=)
c.3747C= (p.Phe1249=)
2g.73450271C>GCA347276470ALMS1c.3363C>G (p.Phe1121Leu)
c.685+17980C>G
c.815C>G
c.3744C>G (p.Phe1248Leu)
c.3618C>G (p.Phe1206Leu)
c.3747C>G (p.Phe1249Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.73450271C>TCA427020679ALMS1c.3363C>T (p.Phe1121=)
c.685+17980C>T
c.815C>T
c.3744C>T (p.Phe1248=)
c.3618C>T (p.Phe1206=)
c.3747C>T (p.Phe1249=)
2g.73450272T>ACA347276473ALMS1c.3364T>A (p.Tyr1122Asn)
c.685+17981T>A
c.816T>A
c.3745T>A (p.Tyr1249Asn)
c.3619T>A (p.Tyr1207Asn)
c.3748T>A (p.Tyr1250Asn)
2g.73450272T>CCA347276475ALMS1c.3364T>C (p.Tyr1122His)
c.685+17981T>C
c.816T>C
c.3745T>C (p.Tyr1249His)
c.3619T>C (p.Tyr1207His)
c.3748T>C (p.Tyr1250His)
2g.73450272T>GCA347276476ALMS1c.3364T>G (p.Tyr1122Asp)
c.685+17981T>G
c.816T>G
c.3745T>G (p.Tyr1249Asp)
c.3619T>G (p.Tyr1207Asp)
c.3748T>G (p.Tyr1250Asp)
2g.73450273A>CCA347276478ALMS1c.3365A>C (p.Tyr1122Ser)
c.685+17982A>C
c.817A>C
c.3746A>C (p.Tyr1249Ser)
c.3620A>C (p.Tyr1207Ser)
c.3749A>C (p.Tyr1250Ser)
2g.73450273A>GCA347276481ALMS1c.3365A>G (p.Tyr1122Cys)
c.685+17982A>G
c.817A>G
c.3746A>G (p.Tyr1249Cys)
c.3620A>G (p.Tyr1207Cys)
c.3749A>G (p.Tyr1250Cys)
 gnomAD v4
2g.73450273A>TCA347276486ALMS1c.3365A>T (p.Tyr1122Phe)
c.685+17982A>T
c.817A>T
c.3746A>T (p.Tyr1249Phe)
c.3620A>T (p.Tyr1207Phe)
c.3749A>T (p.Tyr1250Phe)
2g.73450274C>ACA347276488ALMS1c.3366C>A (p.Tyr1122Ter)
c.685+17983C>A
c.818C>A
c.3747C>A (p.Tyr1249Ter)
c.3621C>A (p.Tyr1207Ter)
c.3750C>A (p.Tyr1250Ter)
2g.73450274C>GCA347276490ALMS1c.3366C>G (p.Tyr1122Ter)
c.685+17983C>G
c.818C>G
c.3747C>G (p.Tyr1249Ter)
c.3621C>G (p.Tyr1207Ter)
c.3750C>G (p.Tyr1250Ter)
2g.73450274C>TCA427020684ALMS1c.3366C>T (p.Tyr1122=)
c.685+17983C>T
c.818C>T
c.3747C>T (p.Tyr1249=)
c.3621C>T (p.Tyr1207=)
c.3750C>T (p.Tyr1250=)
2g.73450275C>ACA347276492ALMS1c.3367C>A (p.Gln1123Lys)
c.685+17984C>A
c.819C>A
c.3748C>A (p.Gln1250Lys)
c.3622C>A (p.Gln1208Lys)
c.3751C>A (p.Gln1251Lys)
2g.73450275C>GCA347276494ALMS1c.3367C>G (p.Gln1123Glu)
c.685+17984C>G
c.819C>G
c.3748C>G (p.Gln1250Glu)
c.3622C>G (p.Gln1208Glu)
c.3751C>G (p.Gln1251Glu)
2g.73450275C>TCA347276495ALMS1c.3367C>T (p.Gln1123Ter)
c.685+17984C>T
c.819C>T
c.3748C>T (p.Gln1250Ter)
c.3622C>T (p.Gln1208Ter)
c.3751C>T (p.Gln1251Ter)
2g.73450276A=CA1260958996ALMS1c.3368A= (p.Gln1123=)
c.685+17985A=
c.820A=
c.3749A= (p.Gln1250=)
c.3623A= (p.Gln1208=)
c.3752A= (p.Gln1251=)
2g.73450276A>CCA347276500ALMS1c.3368A>C (p.Gln1123Pro)
c.685+17985A>C
c.820A>C
c.3749A>C (p.Gln1250Pro)
c.3623A>C (p.Gln1208Pro)
c.3752A>C (p.Gln1251Pro)
2g.73450276A>GCA347276501ALMS1c.3368A>G (p.Gln1123Arg)
c.685+17985A>G
c.820A>G
c.3749A>G (p.Gln1250Arg)
c.3623A>G (p.Gln1208Arg)
c.3752A>G (p.Gln1251Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73450276A>TCA347276498ALMS1c.3368A>T (p.Gln1123Leu)
c.685+17985A>T
c.820A>T
c.3749A>T (p.Gln1250Leu)
c.3623A>T (p.Gln1208Leu)
c.3752A>T (p.Gln1251Leu)
2g.73450277A=CA1260958997ALMS1c.3369A= (p.Gln1123=)
c.685+17986A=
c.821A=
c.3750A= (p.Gln1250=)
c.3624A= (p.Gln1208=)
c.3753A= (p.Gln1251=)
2g.73450277A>CCA347276505ALMS1c.3369A>C (p.Gln1123His)
c.685+17986A>C
c.821A>C
c.3750A>C (p.Gln1250His)
c.3624A>C (p.Gln1208His)
c.3753A>C (p.Gln1251His)
2g.73450277A>GCA50392805ALMS1c.3369A>G (p.Gln1123=)
c.685+17986A>G
c.821A>G
c.3750A>G (p.Gln1250=)
c.3624A>G (p.Gln1208=)
c.3753A>G (p.Gln1251=)
 dbSNP gnomAD v4
2g.73450277A>TCA347276504ALMS1c.3369A>T (p.Gln1123His)
c.685+17986A>T
c.821A>T
c.3750A>T (p.Gln1250His)
c.3624A>T (p.Gln1208His)
c.3753A>T (p.Gln1251His)
 gnomAD v4
2g.73450278C>ACA347276508ALMS1c.3370C>A (p.Gln1124Lys)
c.685+17987C>A
c.822C>A
c.3751C>A (p.Gln1251Lys)
c.3625C>A (p.Gln1209Lys)
c.3754C>A (p.Gln1252Lys)
2g.73450278C=CA1260958998ALMS1c.3370C= (p.Gln1124=)
c.685+17987C=
c.822C=
c.3751C= (p.Gln1251=)
c.3625C= (p.Gln1209=)
c.3754C= (p.Gln1252=)
2g.73450278C>GCA347276512ALMS1c.3370C>G (p.Gln1124Glu)
c.685+17987C>G
c.822C>G
c.3751C>G (p.Gln1251Glu)
c.3625C>G (p.Gln1209Glu)
c.3754C>G (p.Gln1252Glu)
2g.73450278C>TCA1713585ALMS1c.3370C>T (p.Gln1124Ter)
c.685+17987C>T
c.822C>T
c.3751C>T (p.Gln1251Ter)
c.3625C>T (p.Gln1209Ter)
c.3754C>T (p.Gln1252Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73450279A=CA1260958999ALMS1c.3371A= (p.Gln1124=)
c.685+17988A=
c.823A=
c.3752A= (p.Gln1251=)
c.3626A= (p.Gln1209=)
c.3755A= (p.Gln1252=)
2g.73450279A>CCA347276515ALMS1c.3371A>C (p.Gln1124Pro)
c.685+17988A>C
c.823A>C
c.3752A>C (p.Gln1251Pro)
c.3626A>C (p.Gln1209Pro)
c.3755A>C (p.Gln1252Pro)
2g.73450279A>GCA347276517ALMS1c.3371A>G (p.Gln1124Arg)
c.685+17988A>G
c.823A>G
c.3752A>G (p.Gln1251Arg)
c.3626A>G (p.Gln1209Arg)
c.3755A>G (p.Gln1252Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73450279A>TCA347276518ALMS1c.3371A>T (p.Gln1124Leu)
c.685+17988A>T
c.823A>T
c.3752A>T (p.Gln1251Leu)
c.3626A>T (p.Gln1209Leu)
c.3755A>T (p.Gln1252Leu)
2g.73450280G>ACA427020695ALMS1c.3372G>A (p.Gln1124=)
c.685+17989G>A
c.824G>A
c.3753G>A (p.Gln1251=)
c.3627G>A (p.Gln1209=)
c.3756G>A (p.Gln1252=)
2g.73450280G>CCA1713586ALMS1c.3372G>C (p.Gln1124His)
c.685+17989G>C
c.824G>C
c.3753G>C (p.Gln1251His)
c.3627G>C (p.Gln1209His)
c.3756G>C (p.Gln1252His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73450280G=CA1260959000ALMS1c.3372G= (p.Gln1124=)
c.685+17989G=
c.824G=
c.3753G= (p.Gln1251=)
c.3627G= (p.Gln1209=)
c.3756G= (p.Gln1252=)
2g.73450280G>TCA347276521ALMS1c.3372G>T (p.Gln1124His)
c.685+17989G>T
c.824G>T
c.3753G>T (p.Gln1251His)
c.3627G>T (p.Gln1209His)
c.3756G>T (p.Gln1252His)
2g.73450281G>ACA347276524ALMS1c.3373G>A (p.Val1125Ile)
c.685+17990G>A
c.825G>A
c.3754G>A (p.Val1252Ile)
c.3628G>A (p.Val1210Ile)
c.3757G>A (p.Val1253Ile)
2g.73450281G>CCA347276526ALMS1c.3373G>C (p.Val1125Leu)
c.685+17990G>C
c.825G>C
c.3754G>C (p.Val1252Leu)
c.3628G>C (p.Val1210Leu)
c.3757G>C (p.Val1253Leu)
2g.73450281G=CA1260959001ALMS1c.3373G= (p.Val1125=)
c.685+17990G=
c.825G=
c.3754G= (p.Val1252=)
c.3628G= (p.Val1210=)
c.3757G= (p.Val1253=)
2g.73450281G>TCA347276528ALMS1c.3373G>T (p.Val1125Phe)
c.685+17990G>T
c.825G>T
c.3754G>T (p.Val1252Phe)
c.3628G>T (p.Val1210Phe)
c.3757G>T (p.Val1253Phe)
 dbSNP gnomAD v4
2g.73450282T>ACA347276533ALMS1c.3374T>A (p.Val1125Asp)
c.685+17991T>A
c.826T>A
c.3755T>A (p.Val1252Asp)
c.3629T>A (p.Val1210Asp)
c.3758T>A (p.Val1253Asp)
2g.73450282T>CCA347276532ALMS1c.3374T>C (p.Val1125Ala)
c.685+17991T>C
c.826T>C
c.3755T>C (p.Val1252Ala)
c.3629T>C (p.Val1210Ala)
c.3758T>C (p.Val1253Ala)
2g.73450282T>GCA347276531ALMS1c.3374T>G (p.Val1125Gly)
c.685+17991T>G
c.826T>G
c.3755T>G (p.Val1252Gly)
c.3629T>G (p.Val1210Gly)
c.3758T>G (p.Val1253Gly)
 ClinVar gnomAD v4
2g.73450283C>ACA427020702ALMS1c.3375C>A (p.Val1125=)
c.685+17992C>A
c.827C>A
c.3756C>A (p.Val1252=)
c.3630C>A (p.Val1210=)
c.3759C>A (p.Val1253=)
2g.73450283C=CA1260959002ALMS1c.3375C= (p.Val1125=)
c.685+17992C=
c.827C=
c.3756C= (p.Val1252=)
c.3630C= (p.Val1210=)
c.3759C= (p.Val1253=)
2g.73450283C>GCA427020704ALMS1c.3375C>G (p.Val1125=)
c.685+17992C>G
c.827C>G
c.3756C>G (p.Val1252=)
c.3630C>G (p.Val1210=)
c.3759C>G (p.Val1253=)
2g.73450283C>TCA427020706ALMS1c.3375C>T (p.Val1125=)
c.685+17992C>T
c.827C>T
c.3756C>T (p.Val1252=)
c.3630C>T (p.Val1210=)
c.3759C>T (p.Val1253=)
 dbSNP gnomAD v3 gnomAD v4
2g.73450284T>ACA347276535ALMS1c.3376T>A (p.Leu1126Met)
c.685+17993T>A
c.828T>A
c.3757T>A (p.Leu1253Met)
c.3631T>A (p.Leu1211Met)
c.3760T>A (p.Leu1254Met)
2g.73450284T>CCA427020707ALMS1c.3376T>C (p.Leu1126=)
c.685+17993T>C
c.828T>C
c.3757T>C (p.Leu1253=)
c.3631T>C (p.Leu1211=)
c.3760T>C (p.Leu1254=)
 ClinVar dbSNP
2g.73450284T>GCA347276537ALMS1c.3376T>G (p.Leu1126Val)
c.685+17993T>G
c.828T>G
c.3757T>G (p.Leu1253Val)
c.3631T>G (p.Leu1211Val)
c.3760T>G (p.Leu1254Val)
2g.73450284T=CA1260959003ALMS1c.3376T= (p.Leu1126=)
c.685+17993T=
c.828T=
c.3757T= (p.Leu1253=)
c.3631T= (p.Leu1211=)
c.3760T= (p.Leu1254=)
2g.73450285T>ACA347276538ALMS1c.3377T>A (p.Leu1126Ter)
c.685+17994T>A
c.829T>A
c.3758T>A (p.Leu1253Ter)
c.3632T>A (p.Leu1211Ter)
c.3761T>A (p.Leu1254Ter)
2g.73450285T>CCA347276539ALMS1c.3377T>C (p.Leu1126Ser)
c.685+17994T>C
c.829T>C
c.3758T>C (p.Leu1253Ser)
c.3632T>C (p.Leu1211Ser)
c.3761T>C (p.Leu1254Ser)
2g.73450285T>GCA347276541ALMS1c.3377T>G (p.Leu1126Trp)
c.685+17994T>G
c.829T>G
c.3758T>G (p.Leu1253Trp)
c.3632T>G (p.Leu1211Trp)
c.3761T>G (p.Leu1254Trp)
2g.73450286G>ACA427020713ALMS1c.3378G>A (p.Leu1126=)
c.685+17995G>A
c.830G>A
c.3759G>A (p.Leu1253=)
c.3633G>A (p.Leu1211=)
c.3762G>A (p.Leu1254=)
 ClinVar
2g.73450286G>CCA347276544ALMS1c.3378G>C (p.Leu1126Phe)
c.685+17995G>C
c.830G>C
c.3759G>C (p.Leu1253Phe)
c.3633G>C (p.Leu1211Phe)
c.3762G>C (p.Leu1254Phe)
2g.73450286G>TCA347276546ALMS1c.3378G>T (p.Leu1126Phe)
c.685+17995G>T
c.830G>T
c.3759G>T (p.Leu1253Phe)
c.3633G>T (p.Leu1211Phe)
c.3762G>T (p.Leu1254Phe)
 gnomAD v4
2g.73450287C>ACA347276549ALMS1c.3379C>A (p.Pro1127Thr)
c.685+17996C>A
c.831C>A
c.3760C>A (p.Pro1254Thr)
c.3634C>A (p.Pro1212Thr)
c.3763C>A (p.Pro1255Thr)
2g.73450287C=CA1260959004ALMS1c.3379C= (p.Pro1127=)
c.685+17996C=
c.831C=
c.3760C= (p.Pro1254=)
c.3634C= (p.Pro1212=)
c.3763C= (p.Pro1255=)
2g.73450287C>GCA347276552ALMS1c.3379C>G (p.Pro1127Ala)
c.685+17996C>G
c.831C>G
c.3760C>G (p.Pro1254Ala)
c.3634C>G (p.Pro1212Ala)
c.3763C>G (p.Pro1255Ala)
2g.73450287C>TCA347276554ALMS1c.3379C>T (p.Pro1127Ser)
c.685+17996C>T
c.831C>T
c.3760C>T (p.Pro1254Ser)
c.3634C>T (p.Pro1212Ser)
c.3763C>T (p.Pro1255Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.73450288delCA2659618868ALMS1c.3380del (p.Pro1127GlnfsTer10)
c.685+17997del
c.832del
c.3761del (p.Pro1254GlnfsTer10)
c.3635del (p.Pro1212GlnfsTer10)
c.3764del (p.Pro1255GlnfsTer10)
 gnomAD v4
2g.73450288C>ACA347276557ALMS1c.3380C>A (p.Pro1127Gln)
c.685+17997C>A
c.832C>A
c.3761C>A (p.Pro1254Gln)
c.3635C>A (p.Pro1212Gln)
c.3764C>A (p.Pro1255Gln)
2g.73450288C>GCA347276559ALMS1c.3380C>G (p.Pro1127Arg)
c.685+17997C>G
c.832C>G
c.3761C>G (p.Pro1254Arg)
c.3635C>G (p.Pro1212Arg)
c.3764C>G (p.Pro1255Arg)
 gnomAD v4
2g.73450288C>TCA347276561ALMS1c.3380C>T (p.Pro1127Leu)
c.685+17997C>T
c.832C>T
c.3761C>T (p.Pro1254Leu)
c.3635C>T (p.Pro1212Leu)
c.3764C>T (p.Pro1255Leu)
 gnomAD v4
2g.73450289A=CA1260959005ALMS1c.3381A= (p.Pro1127=)
c.685+17998A=
c.833A=
c.3762A= (p.Pro1254=)
c.3636A= (p.Pro1212=)
c.3765A= (p.Pro1255=)
2g.73450289A>CCA427020725ALMS1c.3381A>C (p.Pro1127=)
c.685+17998A>C
c.833A>C
c.3762A>C (p.Pro1254=)
c.3636A>C (p.Pro1212=)
c.3765A>C (p.Pro1255=)
2g.73450289A>GCA1713587ALMS1c.3381A>G (p.Pro1127=)
c.685+17998A>G
c.833A>G
c.3762A>G (p.Pro1254=)
c.3636A>G (p.Pro1212=)
c.3765A>G (p.Pro1255=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73450289A>TCA427020721ALMS1c.3381A>T (p.Pro1127=)
c.685+17998A>T
c.833A>T
c.3762A>T (p.Pro1254=)
c.3636A>T (p.Pro1212=)
c.3765A>T (p.Pro1255=)
2g.73450290G>ACA50392831ALMS1c.3382G>A (p.Asp1128Asn)
c.685+17999G>A
c.834G>A
c.3763G>A (p.Asp1255Asn)
c.3637G>A (p.Asp1213Asn)
c.3766G>A (p.Asp1256Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.73450290G>CCA1713588ALMS1c.3382G>C (p.Asp1128His)
c.685+17999G>C
c.834G>C
c.3763G>C (p.Asp1255His)
c.3637G>C (p.Asp1213His)
c.3766G>C (p.Asp1256His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73450290G=CA1260959006ALMS1c.3382G= (p.Asp1128=)
c.685+17999G=
c.834G=
c.3763G= (p.Asp1255=)
c.3637G= (p.Asp1213=)
c.3766G= (p.Asp1256=)
2g.73450290G>TCA347276565ALMS1c.3382G>T (p.Asp1128Tyr)
c.685+17999G>T
c.834G>T
c.3763G>T (p.Asp1255Tyr)
c.3637G>T (p.Asp1213Tyr)
c.3766G>T (p.Asp1256Tyr)
2g.73450291A=CA1260959007ALMS1c.3383A= (p.Asp1128=)
c.685+18000A=
c.835A=
c.3764A= (p.Asp1255=)
c.3638A= (p.Asp1213=)
c.3767A= (p.Asp1256=)
2g.73450291A>CCA347276568ALMS1c.3383A>C (p.Asp1128Ala)
c.685+18000A>C
c.835A>C
c.3764A>C (p.Asp1255Ala)
c.3638A>C (p.Asp1213Ala)
c.3767A>C (p.Asp1256Ala)
 gnomAD v4
2g.73450291A>GCA50392837ALMS1c.3383A>G (p.Asp1128Gly)
c.685+18000A>G
c.835A>G
c.3764A>G (p.Asp1255Gly)
c.3638A>G (p.Asp1213Gly)
c.3767A>G (p.Asp1256Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73450291A>TCA347276571ALMS1c.3383A>T (p.Asp1128Val)
c.685+18000A>T
c.835A>T
c.3764A>T (p.Asp1255Val)
c.3638A>T (p.Asp1213Val)
c.3767A>T (p.Asp1256Val)
2g.73450292T>ACA347276573ALMS1c.3384T>A (p.Asp1128Glu)
c.685+18001T>A
c.836T>A
c.3765T>A (p.Asp1255Glu)
c.3639T>A (p.Asp1213Glu)
c.3768T>A (p.Asp1256Glu)
2g.73450292T>CCA427020730ALMS1c.3384T>C (p.Asp1128=)
c.685+18001T>C
c.836T>C
c.3765T>C (p.Asp1255=)
c.3639T>C (p.Asp1213=)
c.3768T>C (p.Asp1256=)
2g.73450292T>GCA347276574ALMS1c.3384T>G (p.Asp1128Glu)
c.685+18001T>G
c.836T>G
c.3765T>G (p.Asp1255Glu)
c.3639T>G (p.Asp1213Glu)
c.3768T>G (p.Asp1256Glu)
2g.73450293A>CCA347276576ALMS1c.3385A>C (p.Asn1129His)
c.685+18002A>C
c.837A>C
c.3766A>C (p.Asn1256His)
c.3640A>C (p.Asn1214His)
c.3769A>C (p.Asn1257His)
2g.73450293A>GCA347276577ALMS1c.3385A>G (p.Asn1129Asp)
c.685+18002A>G
c.837A>G
c.3766A>G (p.Asn1256Asp)
c.3640A>G (p.Asn1214Asp)
c.3769A>G (p.Asn1257Asp)
2g.73450293A>TCA347276580ALMS1c.3385A>T (p.Asn1129Tyr)
c.685+18002A>T
c.837A>T
c.3766A>T (p.Asn1256Tyr)
c.3640A>T (p.Asn1214Tyr)
c.3769A>T (p.Asn1257Tyr)
2g.73450294A=CA1260959008ALMS1c.3386A= (p.Asn1129=)
c.685+18003A=
c.838A=
c.3767A= (p.Asn1256=)
c.3641A= (p.Asn1214=)
c.3770A= (p.Asn1257=)
2g.73450294A>CCA347276582ALMS1c.3386A>C (p.Asn1129Thr)
c.685+18003A>C
c.838A>C
c.3767A>C (p.Asn1256Thr)
c.3641A>C (p.Asn1214Thr)
c.3770A>C (p.Asn1257Thr)
2g.73450294A>GCA1713589ALMS1c.3386A>G (p.Asn1129Ser)
c.685+18003A>G
c.838A>G
c.3767A>G (p.Asn1256Ser)
c.3641A>G (p.Asn1214Ser)
c.3770A>G (p.Asn1257Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73450294A>TCA347276584ALMS1c.3386A>T (p.Asn1129Ile)
c.685+18003A>T
c.838A>T
c.3767A>T (p.Asn1256Ile)
c.3641A>T (p.Asn1214Ile)
c.3770A>T (p.Asn1257Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.73450295T>ACA347276588ALMS1c.3387T>A (p.Asn1129Lys)
c.685+18004T>A
c.839T>A
c.3768T>A (p.Asn1256Lys)
c.3642T>A (p.Asn1214Lys)
c.3771T>A (p.Asn1257Lys)
2g.73450295T>CCA427020733ALMS1c.3387T>C (p.Asn1129=)
c.685+18004T>C
c.839T>C
c.3768T>C (p.Asn1256=)
c.3642T>C (p.Asn1214=)
c.3771T>C (p.Asn1257=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73450295T>GCA347276586ALMS1c.3387T>G (p.Asn1129Lys)
c.685+18004T>G
c.839T>G
c.3768T>G (p.Asn1256Lys)
c.3642T>G (p.Asn1214Lys)
c.3771T>G (p.Asn1257Lys)
2g.73450295T=CA1260959009ALMS1c.3387T= (p.Asn1129=)
c.685+18004T=
c.839T=
c.3768T= (p.Asn1256=)
c.3642T= (p.Asn1214=)
c.3771T= (p.Asn1257=)
2g.73450365_73450649delCA2573135767ALMS1c.3457_3741del (p.Ala1153_Pro1247del)
c.685+18074_685+18358del
c.909_1193del
c.3838_4122del (p.Ala1280_Pro1374del)
c.3712_3996del (p.Ala1238_Pro1332del)
c.3841_4125del (p.Ala1281_Pro1375del)
 ClinVar dbSNP
2g.73450296C>ACA347276591ALMS1c.3388C>A (p.His1130Asn)
c.685+18005C>A
c.840C>A
c.3769C>A (p.His1257Asn)
c.3643C>A (p.His1215Asn)
c.3772C>A (p.His1258Asn)
2g.73450296C>GCA347276592ALMS1c.3388C>G (p.His1130Asp)
c.685+18005C>G
c.840C>G
c.3769C>G (p.His1257Asp)
c.3643C>G (p.His1215Asp)
c.3772C>G (p.His1258Asp)
2g.73450296C>TCA347276595ALMS1c.3388C>T (p.His1130Tyr)
c.685+18005C>T
c.840C>T
c.3769C>T (p.His1257Tyr)
c.3643C>T (p.His1215Tyr)
c.3772C>T (p.His1258Tyr)
 ClinVar gnomAD v4
2g.73450297A=CA1260959010ALMS1c.3389A= (p.His1130=)
c.685+18006A=
c.841A=
c.3770A= (p.His1257=)
c.3644A= (p.His1215=)
c.3773A= (p.His1258=)
2g.73450297A>CCA347276597ALMS1c.3389A>C (p.His1130Pro)
c.685+18006A>C
c.841A>C
c.3770A>C (p.His1257Pro)
c.3644A>C (p.His1215Pro)
c.3773A>C (p.His1258Pro)
2g.73450297A>GCA1713590ALMS1c.3389A>G (p.His1130Arg)
c.685+18006A>G
c.841A>G
c.3770A>G (p.His1257Arg)
c.3644A>G (p.His1215Arg)
c.3773A>G (p.His1258Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73450297A>TCA347276602ALMS1c.3389A>T (p.His1130Leu)
c.685+18006A>T
c.841A>T
c.3770A>T (p.His1257Leu)
c.3644A>T (p.His1215Leu)
c.3773A>T (p.His1258Leu)
 ClinVar
2g.73450298T>ACA347276605ALMS1c.3390T>A (p.His1130Gln)
c.685+18007T>A
c.842T>A
c.3771T>A (p.His1257Gln)
c.3645T>A (p.His1215Gln)
c.3774T>A (p.His1258Gln)
2g.73450298T>CCA427020740ALMS1c.3390T>C (p.His1130=)
c.685+18007T>C
c.842T>C
c.3771T>C (p.His1257=)
c.3645T>C (p.His1215=)
c.3774T>C (p.His1258=)
2g.73450298T>GCA347276606ALMS1c.3390T>G (p.His1130Gln)
c.685+18007T>G
c.842T>G
c.3771T>G (p.His1257Gln)
c.3645T>G (p.His1215Gln)
c.3774T>G (p.His1258Gln)
2g.73450299C>ACA347276611ALMS1c.3391C>A (p.Pro1131Thr)
c.685+18008C>A
c.843C>A
c.3772C>A (p.Pro1258Thr)
c.3646C>A (p.Pro1216Thr)
c.3775C>A (p.Pro1259Thr)
 gnomAD v4
2g.73450299C=CA1260959011ALMS1c.3391C= (p.Pro1131=)
c.685+18008C=
c.843C=
c.3772C= (p.Pro1258=)
c.3646C= (p.Pro1216=)
c.3775C= (p.Pro1259=)
2g.73450299C>GCA347276613ALMS1c.3391C>G (p.Pro1131Ala)
c.685+18008C>G
c.843C>G
c.3772C>G (p.Pro1258Ala)
c.3646C>G (p.Pro1216Ala)
c.3775C>G (p.Pro1259Ala)
2g.73450299C>TCA347276614ALMS1c.3391C>T (p.Pro1131Ser)
c.685+18008C>T
c.843C>T
c.3772C>T (p.Pro1258Ser)
c.3646C>T (p.Pro1216Ser)
c.3775C>T (p.Pro1259Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73450300C>ACA347276617ALMS1c.3392C>A (p.Pro1131Gln)
c.685+18009C>A
c.844C>A
c.3773C>A (p.Pro1258Gln)
c.3647C>A (p.Pro1216Gln)
c.3776C>A (p.Pro1259Gln)
2g.73450300C>GCA347276620ALMS1c.3392C>G (p.Pro1131Arg)
c.685+18009C>G
c.844C>G
c.3773C>G (p.Pro1258Arg)
c.3647C>G (p.Pro1216Arg)
c.3776C>G (p.Pro1259Arg)
 gnomAD v4
2g.73450300C>TCA347276622ALMS1c.3392C>T (p.Pro1131Leu)
c.685+18009C>T
c.844C>T
c.3773C>T (p.Pro1258Leu)
c.3647C>T (p.Pro1216Leu)
c.3776C>T (p.Pro1259Leu)
 gnomAD v3 gnomAD v4
2g.73450301A>CCA427020745ALMS1c.3393A>C (p.Pro1131=)
c.685+18010A>C
c.845A>C
c.3774A>C (p.Pro1258=)
c.3648A>C (p.Pro1216=)
c.3777A>C (p.Pro1259=)
2g.73450301A>GCA427020746ALMS1c.3393A>G (p.Pro1131=)
c.685+18010A>G
c.845A>G
c.3774A>G (p.Pro1258=)
c.3648A>G (p.Pro1216=)
c.3777A>G (p.Pro1259=)
 ClinVar
2g.73450301A>TCA427020747ALMS1c.3393A>T (p.Pro1131=)
c.685+18010A>T
c.845A>T
c.3774A>T (p.Pro1258=)
c.3648A>T (p.Pro1216=)
c.3777A>T (p.Pro1259=)
2g.73450302A=CA1260959012ALMS1c.3394A= (p.Thr1132=)
c.685+18011A=
c.846A=
c.3775A= (p.Thr1259=)
c.3649A= (p.Thr1217=)
c.3778A= (p.Thr1260=)
2g.73450302A>CCA347276628ALMS1c.3394A>C (p.Thr1132Pro)
c.685+18011A>C
c.846A>C
c.3775A>C (p.Thr1259Pro)
c.3649A>C (p.Thr1217Pro)
c.3778A>C (p.Thr1260Pro)
 gnomAD v3 gnomAD v4
2g.73450302A>GCA1713591ALMS1c.3394A>G (p.Thr1132Ala)
c.685+18011A>G
c.846A>G
c.3775A>G (p.Thr1259Ala)
c.3649A>G (p.Thr1217Ala)
c.3778A>G (p.Thr1260Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73450302A>TCA347276625ALMS1c.3394A>T (p.Thr1132Ser)
c.685+18011A>T
c.846A>T
c.3775A>T (p.Thr1259Ser)
c.3649A>T (p.Thr1217Ser)
c.3778A>T (p.Thr1260Ser)
2g.73450303C>ACA347276639ALMS1c.3395C>A (p.Thr1132Asn)
c.685+18012C>A
c.847C>A
c.3776C>A (p.Thr1259Asn)
c.3650C>A (p.Thr1217Asn)
c.3779C>A (p.Thr1260Asn)
 gnomAD v4
2g.73450303C>GCA347276634ALMS1c.3395C>G (p.Thr1132Ser)
c.685+18012C>G
c.847C>G
c.3776C>G (p.Thr1259Ser)
c.3650C>G (p.Thr1217Ser)
c.3779C>G (p.Thr1260Ser)
2g.73450303C>TCA347276636ALMS1c.3395C>T (p.Thr1132Ile)
c.685+18012C>T
c.847C>T
c.3776C>T (p.Thr1259Ile)
c.3650C>T (p.Thr1217Ile)
c.3779C>T (p.Thr1260Ile)
 gnomAD v4
2g.73450304T>ACA427020752ALMS1c.3396T>A (p.Thr1132=)
c.685+18013T>A
c.848T>A
c.3777T>A (p.Thr1259=)
c.3651T>A (p.Thr1217=)
c.3780T>A (p.Thr1260=)
2g.73450304T>CCA427020753ALMS1c.3396T>C (p.Thr1132=)
c.685+18013T>C
c.848T>C
c.3777T>C (p.Thr1259=)
c.3651T>C (p.Thr1217=)
c.3780T>C (p.Thr1260=)
2g.73450304T>GCA427020754ALMS1c.3396T>G (p.Thr1132=)
c.685+18013T>G
c.848T>G
c.3777T>G (p.Thr1259=)
c.3651T>G (p.Thr1217=)
c.3780T>G (p.Thr1260=)
2g.73450304_73450308delCA2659618869ALMS1c.3396_3400del (p.Glu1133GlyfsTer9)
c.685+18013_685+18017del
c.848_852del
c.3777_3781del (p.Glu1260GlyfsTer9)
c.3651_3655del (p.Glu1218GlyfsTer9)
c.3780_3784del (p.Glu1261GlyfsTer9)
 gnomAD v4
2g.73450305G>ACA347276641ALMS1c.3397G>A (p.Glu1133Lys)
c.685+18014G>A
c.849G>A
c.3778G>A (p.Glu1260Lys)
c.3652G>A (p.Glu1218Lys)
c.3781G>A (p.Glu1261Lys)
2g.73450305G>CCA347276644ALMS1c.3397G>C (p.Glu1133Gln)
c.685+18014G>C
c.849G>C
c.3778G>C (p.Glu1260Gln)
c.3652G>C (p.Glu1218Gln)
c.3781G>C (p.Glu1261Gln)
2g.73450305G>TCA347276646ALMS1c.3397G>T (p.Glu1133Ter)
c.685+18014G>T
c.849G>T
c.3778G>T (p.Glu1260Ter)
c.3652G>T (p.Glu1218Ter)
c.3781G>T (p.Glu1261Ter)
 ClinVar
2g.73450306A>CCA347276648ALMS1c.3398A>C (p.Glu1133Ala)
c.685+18015A>C
c.850A>C
c.3779A>C (p.Glu1260Ala)
c.3653A>C (p.Glu1218Ala)
c.3782A>C (p.Glu1261Ala)
2g.73450306A>GCA347276650ALMS1c.3398A>G (p.Glu1133Gly)
c.685+18015A>G
c.850A>G
c.3779A>G (p.Glu1260Gly)
c.3653A>G (p.Glu1218Gly)
c.3782A>G (p.Glu1261Gly)
2g.73450306A>TCA347276653ALMS1c.3398A>T (p.Glu1133Val)
c.685+18015A>T
c.850A>T
c.3779A>T (p.Glu1260Val)
c.3653A>T (p.Glu1218Val)
c.3782A>T (p.Glu1261Val)
2g.73450307A>CCA347276654ALMS1c.3399A>C (p.Glu1133Asp)
c.685+18016A>C
c.851A>C
c.3780A>C (p.Glu1260Asp)
c.3654A>C (p.Glu1218Asp)
c.3783A>C (p.Glu1261Asp)
2g.73450307A>GCA427020758ALMS1c.3399A>G (p.Glu1133=)
c.685+18016A>G
c.851A>G
c.3780A>G (p.Glu1260=)
c.3654A>G (p.Glu1218=)
c.3783A>G (p.Glu1261=)
 ClinVar
2g.73450307A>TCA347276656ALMS1c.3399A>T (p.Glu1133Asp)
c.685+18016A>T
c.851A>T
c.3780A>T (p.Glu1260Asp)
c.3654A>T (p.Glu1218Asp)
c.3783A>T (p.Glu1261Asp)
2g.73450308G>ACA347276658ALMS1c.3400G>A (p.Glu1134Lys)
c.685+18017G>A
c.852G>A
c.3781G>A (p.Glu1261Lys)
c.3655G>A (p.Glu1219Lys)
c.3784G>A (p.Glu1262Lys)
2g.73450308G>CCA347276663ALMS1c.3400G>C (p.Glu1134Gln)
c.685+18017G>C
c.852G>C
c.3781G>C (p.Glu1261Gln)
c.3655G>C (p.Glu1219Gln)
c.3784G>C (p.Glu1262Gln)
2g.73450308G=CA1260959013ALMS1c.3400G= (p.Glu1134=)
c.685+18017G=
c.852G=
c.3781G= (p.Glu1261=)
c.3655G= (p.Glu1219=)
c.3784G= (p.Glu1262=)
2g.73450308G>TCA347276664ALMS1c.3400G>T (p.Glu1134Ter)
c.685+18017G>T
c.852G>T
c.3781G>T (p.Glu1261Ter)
c.3655G>T (p.Glu1219Ter)
c.3784G>T (p.Glu1262Ter)
 ClinVar dbSNP

Number of alleles fetched