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)

Number of alleles fetched