Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73450120C>ACA347275988ALMS1c.3212C>A (p.Pro1071His)
c.685+17829C>A
c.664C>A
c.3593C>A (p.Pro1198His)
c.3467C>A (p.Pro1156His)
c.3596C>A (p.Pro1199His)
2g.73450120C>GCA347275989ALMS1c.3212C>G (p.Pro1071Arg)
c.685+17829C>G
c.664C>G
c.3593C>G (p.Pro1198Arg)
c.3467C>G (p.Pro1156Arg)
c.3596C>G (p.Pro1199Arg)
2g.73450120C>TCA347275990ALMS1c.3212C>T (p.Pro1071Leu)
c.685+17829C>T
c.664C>T
c.3593C>T (p.Pro1198Leu)
c.3467C>T (p.Pro1156Leu)
c.3596C>T (p.Pro1199Leu)
 gnomAD v4
2g.73450121T>ACA427020137ALMS1c.3213T>A (p.Pro1071=)
c.685+17830T>A
c.665T>A
c.3594T>A (p.Pro1198=)
c.3468T>A (p.Pro1156=)
c.3597T>A (p.Pro1199=)
2g.73450121T>CCA427020139ALMS1c.3213T>C (p.Pro1071=)
c.685+17830T>C
c.665T>C
c.3594T>C (p.Pro1198=)
c.3468T>C (p.Pro1156=)
c.3597T>C (p.Pro1199=)
2g.73450121T>GCA427020140ALMS1c.3213T>G (p.Pro1071=)
c.685+17830T>G
c.665T>G
c.3594T>G (p.Pro1198=)
c.3468T>G (p.Pro1156=)
c.3597T>G (p.Pro1199=)
2g.73450121_73450135delCA2750450978ALMS1c.3213_3227del (p.Gly1072_Gln1076del)
c.685+17830_685+17844del
c.665_679del
c.3594_3608del (p.Gly1199_Gln1203del)
c.3468_3482del (p.Gly1157_Gln1161del)
c.3597_3611del (p.Gly1200_Gln1204del)
2g.73450122G>ACA347275991ALMS1c.3214G>A (p.Gly1072Ser)
c.685+17831G>A
c.666G>A
c.3595G>A (p.Gly1199Ser)
c.3469G>A (p.Gly1157Ser)
c.3598G>A (p.Gly1200Ser)
2g.73450122G>CCA347275992ALMS1c.3214G>C (p.Gly1072Arg)
c.685+17831G>C
c.666G>C
c.3595G>C (p.Gly1199Arg)
c.3469G>C (p.Gly1157Arg)
c.3598G>C (p.Gly1200Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.73450122G=CA1260958928ALMS1c.3214G= (p.Gly1072=)
c.685+17831G=
c.666G=
c.3595G= (p.Gly1199=)
c.3469G= (p.Gly1157=)
c.3598G= (p.Gly1200=)
2g.73450122G>TCA347275993ALMS1c.3214G>T (p.Gly1072Cys)
c.685+17831G>T
c.666G>T
c.3595G>T (p.Gly1199Cys)
c.3469G>T (p.Gly1157Cys)
c.3598G>T (p.Gly1200Cys)
2g.73450123G>ACA347275994ALMS1c.3215G>A (p.Gly1072Asp)
c.685+17832G>A
c.667G>A
c.3596G>A (p.Gly1199Asp)
c.3470G>A (p.Gly1157Asp)
c.3599G>A (p.Gly1200Asp)
 ClinVar dbSNP gnomAD v4
2g.73450123G>CCA347275995ALMS1c.3215G>C (p.Gly1072Ala)
c.685+17832G>C
c.667G>C
c.3596G>C (p.Gly1199Ala)
c.3470G>C (p.Gly1157Ala)
c.3599G>C (p.Gly1200Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73450123G=CA1260958929ALMS1c.3215G= (p.Gly1072=)
c.685+17832G=
c.667G=
c.3596G= (p.Gly1199=)
c.3470G= (p.Gly1157=)
c.3599G= (p.Gly1200=)
2g.73450123G>TCA347275996ALMS1c.3215G>T (p.Gly1072Val)
c.685+17832G>T
c.667G>T
c.3596G>T (p.Gly1199Val)
c.3470G>T (p.Gly1157Val)
c.3599G>T (p.Gly1200Val)
2g.73450124T>ACA427020141ALMS1c.3216T>A (p.Gly1072=)
c.685+17833T>A
c.668T>A
c.3597T>A (p.Gly1199=)
c.3471T>A (p.Gly1157=)
c.3600T>A (p.Gly1200=)
2g.73450124T>CCA427020142ALMS1c.3216T>C (p.Gly1072=)
c.685+17833T>C
c.668T>C
c.3597T>C (p.Gly1199=)
c.3471T>C (p.Gly1157=)
c.3600T>C (p.Gly1200=)
2g.73450124T>GCA427020143ALMS1c.3216T>G (p.Gly1072=)
c.685+17833T>G
c.668T>G
c.3597T>G (p.Gly1199=)
c.3471T>G (p.Gly1157=)
c.3600T>G (p.Gly1200=)
2g.73450125A>CCA347275998ALMS1c.3217A>C (p.Ile1073Leu)
c.685+17834A>C
c.669A>C
c.3598A>C (p.Ile1200Leu)
c.3472A>C (p.Ile1158Leu)
c.3601A>C (p.Ile1201Leu)
2g.73450125A>GCA347275999ALMS1c.3217A>G (p.Ile1073Val)
c.685+17834A>G
c.669A>G
c.3598A>G (p.Ile1200Val)
c.3472A>G (p.Ile1158Val)
c.3601A>G (p.Ile1201Val)
2g.73450125A>TCA347275997ALMS1c.3217A>T (p.Ile1073Phe)
c.685+17834A>T
c.669A>T
c.3598A>T (p.Ile1200Phe)
c.3472A>T (p.Ile1158Phe)
c.3601A>T (p.Ile1201Phe)
2g.73450126T>ACA347276000ALMS1c.3218T>A (p.Ile1073Asn)
c.685+17835T>A
c.670T>A
c.3599T>A (p.Ile1200Asn)
c.3473T>A (p.Ile1158Asn)
c.3602T>A (p.Ile1201Asn)
2g.73450126T>CCA347276001ALMS1c.3218T>C (p.Ile1073Thr)
c.685+17835T>C
c.670T>C
c.3599T>C (p.Ile1200Thr)
c.3473T>C (p.Ile1158Thr)
c.3602T>C (p.Ile1201Thr)
2g.73450126T>GCA347276002ALMS1c.3218T>G (p.Ile1073Ser)
c.685+17835T>G
c.670T>G
c.3599T>G (p.Ile1200Ser)
c.3473T>G (p.Ile1158Ser)
c.3602T>G (p.Ile1201Ser)
2g.73450129dupCA2577004926ALMS1c.3221dup (p.Tyr1075LeufsTer8)
c.685+17838dup
c.673dup
c.3602dup (p.Tyr1202LeufsTer8)
c.3476dup (p.Tyr1160LeufsTer8)
c.3605dup (p.Tyr1203LeufsTer8)
 gnomAD v4
2g.73450127T>ACA427020147ALMS1c.3219T>A (p.Ile1073=)
c.685+17836T>A
c.671T>A
c.3600T>A (p.Ile1200=)
c.3474T>A (p.Ile1158=)
c.3603T>A (p.Ile1201=)
2g.73450127T>CCA1713553ALMS1c.3219T>C (p.Ile1073=)
c.685+17836T>C
c.671T>C
c.3600T>C (p.Ile1200=)
c.3474T>C (p.Ile1158=)
c.3603T>C (p.Ile1201=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73450127T>GCA347276003ALMS1c.3219T>G (p.Ile1073Met)
c.685+17836T>G
c.671T>G
c.3600T>G (p.Ile1200Met)
c.3474T>G (p.Ile1158Met)
c.3603T>G (p.Ile1201Met)
2g.73450127T=CA1260958930ALMS1c.3219T= (p.Ile1073=)
c.685+17836T=
c.671T=
c.3600T= (p.Ile1200=)
c.3474T= (p.Ile1158=)
c.3603T= (p.Ile1201=)
2g.73450128T>ACA347276004ALMS1c.3220T>A (p.Phe1074Ile)
c.685+17837T>A
c.672T>A
c.3601T>A (p.Phe1201Ile)
c.3475T>A (p.Phe1159Ile)
c.3604T>A (p.Phe1202Ile)
2g.73450128T>CCA347276005ALMS1c.3220T>C (p.Phe1074Leu)
c.685+17837T>C
c.672T>C
c.3601T>C (p.Phe1201Leu)
c.3475T>C (p.Phe1159Leu)
c.3604T>C (p.Phe1202Leu)
2g.73450128T>GCA347276006ALMS1c.3220T>G (p.Phe1074Val)
c.685+17837T>G
c.672T>G
c.3601T>G (p.Phe1201Val)
c.3475T>G (p.Phe1159Val)
c.3604T>G (p.Phe1202Val)
2g.73450129T>ACA347276007ALMS1c.3221T>A (p.Phe1074Tyr)
c.685+17838T>A
c.673T>A
c.3602T>A (p.Phe1201Tyr)
c.3476T>A (p.Phe1159Tyr)
c.3605T>A (p.Phe1202Tyr)
2g.73450129T>CCA347276008ALMS1c.3221T>C (p.Phe1074Ser)
c.685+17838T>C
c.673T>C
c.3602T>C (p.Phe1201Ser)
c.3476T>C (p.Phe1159Ser)
c.3605T>C (p.Phe1202Ser)
2g.73450129T>GCA347276009ALMS1c.3221T>G (p.Phe1074Cys)
c.685+17838T>G
c.673T>G
c.3602T>G (p.Phe1201Cys)
c.3476T>G (p.Phe1159Cys)
c.3605T>G (p.Phe1202Cys)
2g.73450130C>ACA347276010ALMS1c.3222C>A (p.Phe1074Leu)
c.685+17839C>A
c.674C>A
c.3603C>A (p.Phe1201Leu)
c.3477C>A (p.Phe1159Leu)
c.3606C>A (p.Phe1202Leu)
2g.73450130C>GCA347276011ALMS1c.3222C>G (p.Phe1074Leu)
c.685+17839C>G
c.674C>G
c.3603C>G (p.Phe1201Leu)
c.3477C>G (p.Phe1159Leu)
c.3606C>G (p.Phe1202Leu)
2g.73450130C>TCA427020156ALMS1c.3222C>T (p.Phe1074=)
c.685+17839C>T
c.674C>T
c.3603C>T (p.Phe1201=)
c.3477C>T (p.Phe1159=)
c.3606C>T (p.Phe1202=)
2g.73450131T>ACA347276013ALMS1c.3223T>A (p.Tyr1075Asn)
c.685+17840T>A
c.675T>A
c.3604T>A (p.Tyr1202Asn)
c.3478T>A (p.Tyr1160Asn)
c.3607T>A (p.Tyr1203Asn)
2g.73450131T>CCA1713554ALMS1c.3223T>C (p.Tyr1075His)
c.685+17840T>C
c.675T>C
c.3604T>C (p.Tyr1202His)
c.3478T>C (p.Tyr1160His)
c.3607T>C (p.Tyr1203His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73450131T>GCA347276012ALMS1c.3223T>G (p.Tyr1075Asp)
c.685+17840T>G
c.675T>G
c.3604T>G (p.Tyr1202Asp)
c.3478T>G (p.Tyr1160Asp)
c.3607T>G (p.Tyr1203Asp)
2g.73450131T=CA1260958931ALMS1c.3223T= (p.Tyr1075=)
c.685+17840T=
c.675T=
c.3604T= (p.Tyr1202=)
c.3478T= (p.Tyr1160=)
c.3607T= (p.Tyr1203=)
2g.73450132A=CA1260958932ALMS1c.3224A= (p.Tyr1075=)
c.685+17841A=
c.676A=
c.3605A= (p.Tyr1202=)
c.3479A= (p.Tyr1160=)
c.3608A= (p.Tyr1203=)
2g.73450132A>CCA347276014ALMS1c.3224A>C (p.Tyr1075Ser)
c.685+17841A>C
c.676A>C
c.3605A>C (p.Tyr1202Ser)
c.3479A>C (p.Tyr1160Ser)
c.3608A>C (p.Tyr1203Ser)
2g.73450132A>GCA1713555ALMS1c.3224A>G (p.Tyr1075Cys)
c.685+17841A>G
c.676A>G
c.3605A>G (p.Tyr1202Cys)
c.3479A>G (p.Tyr1160Cys)
c.3608A>G (p.Tyr1203Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73450132A>TCA347276015ALMS1c.3224A>T (p.Tyr1075Phe)
c.685+17841A>T
c.676A>T
c.3605A>T (p.Tyr1202Phe)
c.3479A>T (p.Tyr1160Phe)
c.3608A>T (p.Tyr1203Phe)
2g.73450133T>ACA347276016ALMS1c.3225T>A (p.Tyr1075Ter)
c.685+17842T>A
c.677T>A
c.3606T>A (p.Tyr1202Ter)
c.3480T>A (p.Tyr1160Ter)
c.3609T>A (p.Tyr1203Ter)
2g.73450133T>CCA427020159ALMS1c.3225T>C (p.Tyr1075=)
c.685+17842T>C
c.677T>C
c.3606T>C (p.Tyr1202=)
c.3480T>C (p.Tyr1160=)
c.3609T>C (p.Tyr1203=)
 gnomAD v3 gnomAD v4
2g.73450133T>GCA347276017ALMS1c.3225T>G (p.Tyr1075Ter)
c.685+17842T>G
c.677T>G
c.3606T>G (p.Tyr1202Ter)
c.3480T>G (p.Tyr1160Ter)
c.3609T>G (p.Tyr1203Ter)
2g.73450134C>ACA347276018ALMS1c.3226C>A (p.Gln1076Lys)
c.685+17843C>A
c.678C>A
c.3607C>A (p.Gln1203Lys)
c.3481C>A (p.Gln1161Lys)
c.3610C>A (p.Gln1204Lys)
2g.73450134C=CA1260958933ALMS1c.3226C= (p.Gln1076=)
c.685+17843C=
c.678C=
c.3607C= (p.Gln1203=)
c.3481C= (p.Gln1161=)
c.3610C= (p.Gln1204=)
2g.73450134C>GCA347276019ALMS1c.3226C>G (p.Gln1076Glu)
c.685+17843C>G
c.678C>G
c.3607C>G (p.Gln1203Glu)
c.3481C>G (p.Gln1161Glu)
c.3610C>G (p.Gln1204Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.73450134C>TCA347276020ALMS1c.3226C>T (p.Gln1076Ter)
c.685+17843C>T
c.678C>T
c.3607C>T (p.Gln1203Ter)
c.3481C>T (p.Gln1161Ter)
c.3610C>T (p.Gln1204Ter)
2g.73450135A>CCA347276021ALMS1c.3227A>C (p.Gln1076Pro)
c.685+17844A>C
c.679A>C
c.3608A>C (p.Gln1203Pro)
c.3482A>C (p.Gln1161Pro)
c.3611A>C (p.Gln1204Pro)
2g.73450135A>GCA347276022ALMS1c.3227A>G (p.Gln1076Arg)
c.685+17844A>G
c.679A>G
c.3608A>G (p.Gln1203Arg)
c.3482A>G (p.Gln1161Arg)
c.3611A>G (p.Gln1204Arg)
2g.73450135A>TCA347276023ALMS1c.3227A>T (p.Gln1076Leu)
c.685+17844A>T
c.679A>T
c.3608A>T (p.Gln1203Leu)
c.3482A>T (p.Gln1161Leu)
c.3611A>T (p.Gln1204Leu)
2g.73450136A=CA1260958934ALMS1c.3228A= (p.Gln1076=)
c.685+17845A=
c.680A=
c.3609A= (p.Gln1203=)
c.3483A= (p.Gln1161=)
c.3612A= (p.Gln1204=)
2g.73450136A>CCA347276024ALMS1c.3228A>C (p.Gln1076His)
c.685+17845A>C
c.680A>C
c.3609A>C (p.Gln1203His)
c.3483A>C (p.Gln1161His)
c.3612A>C (p.Gln1204His)
2g.73450136A>GCA1713556ALMS1c.3228A>G (p.Gln1076=)
c.685+17845A>G
c.680A>G
c.3609A>G (p.Gln1203=)
c.3483A>G (p.Gln1161=)
c.3612A>G (p.Gln1204=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73450136A>TCA347276025ALMS1c.3228A>T (p.Gln1076His)
c.685+17845A>T
c.680A>T
c.3609A>T (p.Gln1203His)
c.3483A>T (p.Gln1161His)
c.3612A>T (p.Gln1204His)
2g.73450137C>ACA347276027ALMS1c.3229C>A (p.Gln1077Lys)
c.685+17846C>A
c.681C>A
c.3610C>A (p.Gln1204Lys)
c.3484C>A (p.Gln1162Lys)
c.3613C>A (p.Gln1205Lys)
 ClinVar dbSNP
2g.73450137C>GCA347276028ALMS1c.3229C>G (p.Gln1077Glu)
c.685+17846C>G
c.681C>G
c.3610C>G (p.Gln1204Glu)
c.3484C>G (p.Gln1162Glu)
c.3613C>G (p.Gln1205Glu)
2g.73450137C>TCA347276026ALMS1c.3229C>T (p.Gln1077Ter)
c.685+17846C>T
c.681C>T
c.3610C>T (p.Gln1204Ter)
c.3484C>T (p.Gln1162Ter)
c.3613C>T (p.Gln1205Ter)
2g.73450138A=CA1260958935ALMS1c.3230A= (p.Gln1077=)
c.685+17847A=
c.682A=
c.3611A= (p.Gln1204=)
c.3485A= (p.Gln1162=)
c.3614A= (p.Gln1205=)
2g.73450138A>CCA347276029ALMS1c.3230A>C (p.Gln1077Pro)
c.685+17847A>C
c.682A>C
c.3611A>C (p.Gln1204Pro)
c.3485A>C (p.Gln1162Pro)
c.3614A>C (p.Gln1205Pro)
2g.73450138A>GCA1713557ALMS1c.3230A>G (p.Gln1077Arg)
c.685+17847A>G
c.682A>G
c.3611A>G (p.Gln1204Arg)
c.3485A>G (p.Gln1162Arg)
c.3614A>G (p.Gln1205Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73450138A>TCA347276030ALMS1c.3230A>T (p.Gln1077Leu)
c.685+17847A>T
c.682A>T
c.3611A>T (p.Gln1204Leu)
c.3485A>T (p.Gln1162Leu)
c.3614A>T (p.Gln1205Leu)
2g.73450139G>ACA427020171ALMS1c.3231G>A (p.Gln1077=)
c.685+17848G>A
c.683G>A
c.3612G>A (p.Gln1204=)
c.3486G>A (p.Gln1162=)
c.3615G>A (p.Gln1205=)
2g.73450139G>CCA347276031ALMS1c.3231G>C (p.Gln1077His)
c.685+17848G>C
c.683G>C
c.3612G>C (p.Gln1204His)
c.3486G>C (p.Gln1162His)
c.3615G>C (p.Gln1205His)
2g.73450139G>TCA347276032ALMS1c.3231G>T (p.Gln1077His)
c.685+17848G>T
c.683G>T
c.3612G>T (p.Gln1204His)
c.3486G>T (p.Gln1162His)
c.3615G>T (p.Gln1205His)
2g.73450140A=CA1260958936ALMS1c.3232A= (p.Thr1078=)
c.685+17849A=
c.684A=
c.3613A= (p.Thr1205=)
c.3487A= (p.Thr1163=)
c.3616A= (p.Thr1206=)
2g.73450140A>CCA347276033ALMS1c.3232A>C (p.Thr1078Pro)
c.685+17849A>C
c.684A>C
c.3613A>C (p.Thr1205Pro)
c.3487A>C (p.Thr1163Pro)
c.3616A>C (p.Thr1206Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.73450140A>GCA347276035ALMS1c.3232A>G (p.Thr1078Ala)
c.685+17849A>G
c.684A>G
c.3613A>G (p.Thr1205Ala)
c.3487A>G (p.Thr1163Ala)
c.3616A>G (p.Thr1206Ala)
2g.73450140A>TCA347276034ALMS1c.3232A>T (p.Thr1078Ser)
c.685+17849A>T
c.684A>T
c.3613A>T (p.Thr1205Ser)
c.3487A>T (p.Thr1163Ser)
c.3616A>T (p.Thr1206Ser)
2g.73450140_73450141insTAGAAACTACA2659618860ALMS1c.3232_3233insTAGAAACTA (p.Gln1077_Thr1078insIleGluThr)
c.685+17849_685+17850insTAGAAACTA
c.684_685insTAGAAACTA
c.3613_3614insTAGAAACTA (p.Gln1204_Thr1205insIleGluThr)
c.3487_3488insTAGAAACTA (p.Gln1162_Thr1163insIleGluThr)
c.3616_3617insTAGAAACTA (p.Gln1205_Thr1206insIleGluThr)
 gnomAD v4
2g.73450141C>ACA347276036ALMS1c.3233C>A (p.Thr1078Asn)
c.685+17850C>A
c.685C>A
c.3614C>A (p.Thr1205Asn)
c.3488C>A (p.Thr1163Asn)
c.3617C>A (p.Thr1206Asn)
2g.73450141C>GCA347276038ALMS1c.3233C>G (p.Thr1078Ser)
c.685+17850C>G
c.685C>G
c.3614C>G (p.Thr1205Ser)
c.3488C>G (p.Thr1163Ser)
c.3617C>G (p.Thr1206Ser)
2g.73450141C>TCA347276037ALMS1c.3233C>T (p.Thr1078Ile)
c.685+17850C>T
c.685C>T
c.3614C>T (p.Thr1205Ile)
c.3488C>T (p.Thr1163Ile)
c.3617C>T (p.Thr1206Ile)
2g.73450142C>ACA427020175ALMS1c.3234C>A (p.Thr1078=)
c.685+17851C>A
c.686C>A
c.3615C>A (p.Thr1205=)
c.3489C>A (p.Thr1163=)
c.3618C>A (p.Thr1206=)
2g.73450142C=CA1260958937ALMS1c.3234C= (p.Thr1078=)
c.685+17851C=
c.686C=
c.3615C= (p.Thr1205=)
c.3489C= (p.Thr1163=)
c.3618C= (p.Thr1206=)
2g.73450142C>GCA427020174ALMS1c.3234C>G (p.Thr1078=)
c.685+17851C>G
c.686C>G
c.3615C>G (p.Thr1205=)
c.3489C>G (p.Thr1163=)
c.3618C>G (p.Thr1206=)
 dbSNP gnomAD v2 gnomAD v4
2g.73450142C>TCA427020173ALMS1c.3234C>T (p.Thr1078=)
c.685+17851C>T
c.686C>T
c.3615C>T (p.Thr1205=)
c.3489C>T (p.Thr1163=)
c.3618C>T (p.Thr1206=)
 ClinVar gnomAD v4
2g.73450143T>ACA347276039ALMS1c.3235T>A (p.Leu1079Met)
c.685+17852T>A
c.687T>A
c.3616T>A (p.Leu1206Met)
c.3490T>A (p.Leu1164Met)
c.3619T>A (p.Leu1207Met)
2g.73450143T>CCA427020179ALMS1c.3235T>C (p.Leu1079=)
c.685+17852T>C
c.687T>C
c.3616T>C (p.Leu1206=)
c.3490T>C (p.Leu1164=)
c.3619T>C (p.Leu1207=)
2g.73450143T>GCA347276040ALMS1c.3235T>G (p.Leu1079Val)
c.685+17852T>G
c.687T>G
c.3616T>G (p.Leu1206Val)
c.3490T>G (p.Leu1164Val)
c.3619T>G (p.Leu1207Val)
2g.73450144T>ACA347276041ALMS1c.3236T>A (p.Leu1079Ter)
c.685+17853T>A
c.688T>A
c.3617T>A (p.Leu1206Ter)
c.3491T>A (p.Leu1164Ter)
c.3620T>A (p.Leu1207Ter)
2g.73450144T>CCA1713558ALMS1c.3236T>C (p.Leu1079Ser)
c.685+17853T>C
c.688T>C
c.3617T>C (p.Leu1206Ser)
c.3491T>C (p.Leu1164Ser)
c.3620T>C (p.Leu1207Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73450144T>GCA347276042ALMS1c.3236T>G (p.Leu1079Trp)
c.685+17853T>G
c.688T>G
c.3617T>G (p.Leu1206Trp)
c.3491T>G (p.Leu1164Trp)
c.3620T>G (p.Leu1207Trp)
2g.73450144T=CA1260958938ALMS1c.3236T= (p.Leu1079=)
c.685+17853T=
c.688T=
c.3617T= (p.Leu1206=)
c.3491T= (p.Leu1164=)
c.3620T= (p.Leu1207=)
2g.73450145G>ACA427020185ALMS1c.3237G>A (p.Leu1079=)
c.685+17854G>A
c.689G>A
c.3618G>A (p.Leu1206=)
c.3492G>A (p.Leu1164=)
c.3621G>A (p.Leu1207=)
 ClinVar dbSNP gnomAD v4
2g.73450145G>CCA347276043ALMS1c.3237G>C (p.Leu1079Phe)
c.685+17854G>C
c.689G>C
c.3618G>C (p.Leu1206Phe)
c.3492G>C (p.Leu1164Phe)
c.3621G>C (p.Leu1207Phe)
2g.73450145G=CA1260958939ALMS1c.3237G= (p.Leu1079=)
c.685+17854G=
c.689G=
c.3618G= (p.Leu1206=)
c.3492G= (p.Leu1164=)
c.3621G= (p.Leu1207=)
2g.73450145G>TCA1713559ALMS1c.3237G>T (p.Leu1079Phe)
c.685+17854G>T
c.689G>T
c.3618G>T (p.Leu1206Phe)
c.3492G>T (p.Leu1164Phe)
c.3621G>T (p.Leu1207Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73450146C>ACA347276044ALMS1c.3238C>A (p.Pro1080Thr)
c.685+17855C>A
c.690C>A
c.3619C>A (p.Pro1207Thr)
c.3493C>A (p.Pro1165Thr)
c.3622C>A (p.Pro1208Thr)
 gnomAD v4
2g.73450146C>GCA347276045ALMS1c.3238C>G (p.Pro1080Ala)
c.685+17855C>G
c.690C>G
c.3619C>G (p.Pro1207Ala)
c.3493C>G (p.Pro1165Ala)
c.3622C>G (p.Pro1208Ala)
2g.73450146C>TCA347276046ALMS1c.3238C>T (p.Pro1080Ser)
c.685+17855C>T
c.690C>T
c.3619C>T (p.Pro1207Ser)
c.3493C>T (p.Pro1165Ser)
c.3622C>T (p.Pro1208Ser)
2g.73450147C>ACA347276047ALMS1c.3239C>A (p.Pro1080Gln)
c.685+17856C>A
c.691C>A
c.3620C>A (p.Pro1207Gln)
c.3494C>A (p.Pro1165Gln)
c.3623C>A (p.Pro1208Gln)
2g.73450147C>GCA347276048ALMS1c.3239C>G (p.Pro1080Arg)
c.685+17856C>G
c.691C>G
c.3620C>G (p.Pro1207Arg)
c.3494C>G (p.Pro1165Arg)
c.3623C>G (p.Pro1208Arg)
2g.73450147C>TCA347276049ALMS1c.3239C>T (p.Pro1080Leu)
c.685+17856C>T
c.691C>T
c.3620C>T (p.Pro1207Leu)
c.3494C>T (p.Pro1165Leu)
c.3623C>T (p.Pro1208Leu)
2g.73450148A>CCA427020187ALMS1c.3240A>C (p.Pro1080=)
c.685+17857A>C
c.692A>C
c.3621A>C (p.Pro1207=)
c.3495A>C (p.Pro1165=)
c.3624A>C (p.Pro1208=)
 ClinVar
2g.73450148A>GCA427020190ALMS1c.3240A>G (p.Pro1080=)
c.685+17857A>G
c.692A>G
c.3621A>G (p.Pro1207=)
c.3495A>G (p.Pro1165=)
c.3624A>G (p.Pro1208=)
 gnomAD v4
2g.73450148A>TCA427020193ALMS1c.3240A>T (p.Pro1080=)
c.685+17857A>T
c.692A>T
c.3621A>T (p.Pro1207=)
c.3495A>T (p.Pro1165=)
c.3624A>T (p.Pro1208=)
2g.73450149G>ACA347276050ALMS1c.3241G>A (p.Gly1081Ser)
c.685+17858G>A
c.693G>A
c.3622G>A (p.Gly1208Ser)
c.3496G>A (p.Gly1166Ser)
c.3625G>A (p.Gly1209Ser)
 gnomAD v4
2g.73450149G>CCA347276052ALMS1c.3241G>C (p.Gly1081Arg)
c.685+17858G>C
c.693G>C
c.3622G>C (p.Gly1208Arg)
c.3496G>C (p.Gly1166Arg)
c.3625G>C (p.Gly1209Arg)
2g.73450149G>TCA347276051ALMS1c.3241G>T (p.Gly1081Cys)
c.685+17858G>T
c.693G>T
c.3622G>T (p.Gly1208Cys)
c.3496G>T (p.Gly1166Cys)
c.3625G>T (p.Gly1209Cys)
2g.73450150G>ACA1713560ALMS1c.3242G>A (p.Gly1081Asp)
c.685+17859G>A
c.694G>A
c.3623G>A (p.Gly1208Asp)
c.3497G>A (p.Gly1166Asp)
c.3626G>A (p.Gly1209Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73450150G>CCA347276053ALMS1c.3242G>C (p.Gly1081Ala)
c.685+17859G>C
c.694G>C
c.3623G>C (p.Gly1208Ala)
c.3497G>C (p.Gly1166Ala)
c.3626G>C (p.Gly1209Ala)
2g.73450150G=CA1260958940ALMS1c.3242G= (p.Gly1081=)
c.685+17859G=
c.694G=
c.3623G= (p.Gly1208=)
c.3497G= (p.Gly1166=)
c.3626G= (p.Gly1209=)
2g.73450150G>TCA347276054ALMS1c.3242G>T (p.Gly1081Val)
c.685+17859G>T
c.694G>T
c.3623G>T (p.Gly1208Val)
c.3497G>T (p.Gly1166Val)
c.3626G>T (p.Gly1209Val)
2g.73450151T>ACA1713561ALMS1c.3243T>A (p.Gly1081=)
c.685+17860T>A
c.695T>A
c.3624T>A (p.Gly1208=)
c.3498T>A (p.Gly1166=)
c.3627T>A (p.Gly1209=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73450151T>CCA427020198ALMS1c.3243T>C (p.Gly1081=)
c.685+17860T>C
c.695T>C
c.3624T>C (p.Gly1208=)
c.3498T>C (p.Gly1166=)
c.3627T>C (p.Gly1209=)
 gnomAD v4
2g.73450151T>GCA427020200ALMS1c.3243T>G (p.Gly1081=)
c.685+17860T>G
c.695T>G
c.3624T>G (p.Gly1208=)
c.3498T>G (p.Gly1166=)
c.3627T>G (p.Gly1209=)
2g.73450151T=CA1260958941ALMS1c.3243T= (p.Gly1081=)
c.685+17860T=
c.695T=
c.3624T= (p.Gly1208=)
c.3498T= (p.Gly1166=)
c.3627T= (p.Gly1209=)
2g.73450152A>CCA347276055ALMS1c.3244A>C (p.Ser1082Arg)
c.685+17861A>C
c.696A>C
c.3625A>C (p.Ser1209Arg)
c.3499A>C (p.Ser1167Arg)
c.3628A>C (p.Ser1210Arg)
2g.73450152A>GCA347276056ALMS1c.3244A>G (p.Ser1082Gly)
c.685+17861A>G
c.696A>G
c.3625A>G (p.Ser1209Gly)
c.3499A>G (p.Ser1167Gly)
c.3628A>G (p.Ser1210Gly)
 gnomAD v4
2g.73450152A>TCA347276057ALMS1c.3244A>T (p.Ser1082Cys)
c.685+17861A>T
c.696A>T
c.3625A>T (p.Ser1209Cys)
c.3499A>T (p.Ser1167Cys)
c.3628A>T (p.Ser1210Cys)
2g.73450153G>ACA347276058ALMS1c.3245G>A (p.Ser1082Asn)
c.685+17862G>A
c.697G>A
c.3626G>A (p.Ser1209Asn)
c.3500G>A (p.Ser1167Asn)
c.3629G>A (p.Ser1210Asn)
2g.73450153G>CCA347276059ALMS1c.3245G>C (p.Ser1082Thr)
c.685+17862G>C
c.697G>C
c.3626G>C (p.Ser1209Thr)
c.3500G>C (p.Ser1167Thr)
c.3629G>C (p.Ser1210Thr)
2g.73450153G>TCA347276060ALMS1c.3245G>T (p.Ser1082Ile)
c.685+17862G>T
c.697G>T
c.3626G>T (p.Ser1209Ile)
c.3500G>T (p.Ser1167Ile)
c.3629G>T (p.Ser1210Ile)
2g.73450154T>ACA347276062ALMS1c.3246T>A (p.Ser1082Arg)
c.685+17863T>A
c.698T>A
c.3627T>A (p.Ser1209Arg)
c.3501T>A (p.Ser1167Arg)
c.3630T>A (p.Ser1210Arg)
 gnomAD v4
2g.73450154T>CCA427020207ALMS1c.3246T>C (p.Ser1082=)
c.685+17863T>C
c.698T>C
c.3627T>C (p.Ser1209=)
c.3501T>C (p.Ser1167=)
c.3630T>C (p.Ser1210=)
2g.73450154T>GCA347276063ALMS1c.3246T>G (p.Ser1082Arg)
c.685+17863T>G
c.698T>G
c.3627T>G (p.Ser1209Arg)
c.3501T>G (p.Ser1167Arg)
c.3630T>G (p.Ser1210Arg)
2g.73450155C>ACA347276065ALMS1c.3247C>A (p.His1083Asn)
c.685+17864C>A
c.699C>A
c.3628C>A (p.His1210Asn)
c.3502C>A (p.His1168Asn)
c.3631C>A (p.His1211Asn)
2g.73450155C>GCA347276066ALMS1c.3247C>G (p.His1083Asp)
c.685+17864C>G
c.699C>G
c.3628C>G (p.His1210Asp)
c.3502C>G (p.His1168Asp)
c.3631C>G (p.His1211Asp)
2g.73450155C>TCA347276068ALMS1c.3247C>T (p.His1083Tyr)
c.685+17864C>T
c.699C>T
c.3628C>T (p.His1210Tyr)
c.3502C>T (p.His1168Tyr)
c.3631C>T (p.His1211Tyr)
2g.73450156A>CCA347276069ALMS1c.3248A>C (p.His1083Pro)
c.685+17865A>C
c.700A>C
c.3629A>C (p.His1210Pro)
c.3503A>C (p.His1168Pro)
c.3632A>C (p.His1211Pro)
2g.73450156A>GCA347276070ALMS1c.3248A>G (p.His1083Arg)
c.685+17865A>G
c.700A>G
c.3629A>G (p.His1210Arg)
c.3503A>G (p.His1168Arg)
c.3632A>G (p.His1211Arg)
2g.73450156A>TCA347276071ALMS1c.3248A>T (p.His1083Leu)
c.685+17865A>T
c.700A>T
c.3629A>T (p.His1210Leu)
c.3503A>T (p.His1168Leu)
c.3632A>T (p.His1211Leu)
2g.73450157C>ACA347276073ALMS1c.3249C>A (p.His1083Gln)
c.685+17866C>A
c.701C>A
c.3630C>A (p.His1210Gln)
c.3504C>A (p.His1168Gln)
c.3633C>A (p.His1211Gln)
2g.73450157C=CA1260958942ALMS1c.3249C= (p.His1083=)
c.685+17866C=
c.701C=
c.3630C= (p.His1210=)
c.3504C= (p.His1168=)
c.3633C= (p.His1211=)
2g.73450157C>GCA347276075ALMS1c.3249C>G (p.His1083Gln)
c.685+17866C>G
c.701C>G
c.3630C>G (p.His1210Gln)
c.3504C>G (p.His1168Gln)
c.3633C>G (p.His1211Gln)
 dbSNP gnomAD v2 gnomAD v4
2g.73450157C>TCA427020218ALMS1c.3249C>T (p.His1083=)
c.685+17866C>T
c.701C>T
c.3630C>T (p.His1210=)
c.3504C>T (p.His1168=)
c.3633C>T (p.His1211=)
 dbSNP gnomAD v3 gnomAD v4
2g.73450158A=CA1260958943ALMS1c.3250A= (p.Ile1084=)
c.685+17867A=
c.702A=
c.3631A= (p.Ile1211=)
c.3505A= (p.Ile1169=)
c.3634A= (p.Ile1212=)
2g.73450158A>CCA347276076ALMS1c.3250A>C (p.Ile1084Leu)
c.685+17867A>C
c.702A>C
c.3631A>C (p.Ile1211Leu)
c.3505A>C (p.Ile1169Leu)
c.3634A>C (p.Ile1212Leu)
2g.73450158A>GCA1713562ALMS1c.3250A>G (p.Ile1084Val)
c.685+17867A>G
c.702A>G
c.3631A>G (p.Ile1211Val)
c.3505A>G (p.Ile1169Val)
c.3634A>G (p.Ile1212Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73450158A>TCA347276078ALMS1c.3250A>T (p.Ile1084Leu)
c.685+17867A>T
c.702A>T
c.3631A>T (p.Ile1211Leu)
c.3505A>T (p.Ile1169Leu)
c.3634A>T (p.Ile1212Leu)
2g.73450159T>ACA347276083ALMS1c.3251T>A (p.Ile1084Lys)
c.685+17868T>A
c.703T>A
c.3632T>A (p.Ile1211Lys)
c.3506T>A (p.Ile1169Lys)
c.3635T>A (p.Ile1212Lys)
2g.73450159T>CCA347276082ALMS1c.3251T>C (p.Ile1084Thr)
c.685+17868T>C
c.703T>C
c.3632T>C (p.Ile1211Thr)
c.3506T>C (p.Ile1169Thr)
c.3635T>C (p.Ile1212Thr)
2g.73450159T>GCA347276080ALMS1c.3251T>G (p.Ile1084Arg)
c.685+17868T>G
c.703T>G
c.3632T>G (p.Ile1211Arg)
c.3506T>G (p.Ile1169Arg)
c.3635T>G (p.Ile1212Arg)
2g.73450160A=CA1260958944ALMS1c.3252A= (p.Ile1084=)
c.685+17869A=
c.704A=
c.3633A= (p.Ile1211=)
c.3507A= (p.Ile1169=)
c.3636A= (p.Ile1212=)
2g.73450160A>CCA50392666ALMS1c.3252A>C (p.Ile1084=)
c.685+17869A>C
c.704A>C
c.3633A>C (p.Ile1211=)
c.3507A>C (p.Ile1169=)
c.3636A>C (p.Ile1212=)
 dbSNP
2g.73450160A>GCA347276085ALMS1c.3252A>G (p.Ile1084Met)
c.685+17869A>G
c.704A>G
c.3633A>G (p.Ile1211Met)
c.3507A>G (p.Ile1169Met)
c.3636A>G (p.Ile1212Met)
 gnomAD v4
2g.73450160A>TCA50392668ALMS1c.3252A>T (p.Ile1084=)
c.685+17869A>T
c.704A>T
c.3633A>T (p.Ile1211=)
c.3507A>T (p.Ile1169=)
c.3636A>T (p.Ile1212=)
 dbSNP
2g.73450161C>ACA347276087ALMS1c.3253C>A (p.Pro1085Thr)
c.685+17870C>A
c.705C>A
c.3634C>A (p.Pro1212Thr)
c.3508C>A (p.Pro1170Thr)
c.3637C>A (p.Pro1213Thr)
2g.73450161C=CA1260958945ALMS1c.3253C= (p.Pro1085=)
c.685+17870C=
c.705C=
c.3634C= (p.Pro1212=)
c.3508C= (p.Pro1170=)
c.3637C= (p.Pro1213=)
2g.73450161C>GCA1713563ALMS1c.3253C>G (p.Pro1085Ala)
c.685+17870C>G
c.705C>G
c.3634C>G (p.Pro1212Ala)
c.3508C>G (p.Pro1170Ala)
c.3637C>G (p.Pro1213Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73450161C>TCA347276089ALMS1c.3253C>T (p.Pro1085Ser)
c.685+17870C>T
c.705C>T
c.3634C>T (p.Pro1212Ser)
c.3508C>T (p.Pro1170Ser)
c.3637C>T (p.Pro1213Ser)
2g.73450162C>ACA347276090ALMS1c.3254C>A (p.Pro1085His)
c.685+17871C>A
c.706C>A
c.3635C>A (p.Pro1212His)
c.3509C>A (p.Pro1170His)
c.3638C>A (p.Pro1213His)
2g.73450162C=CA1260958946ALMS1c.3254C= (p.Pro1085=)
c.685+17871C=
c.706C=
c.3635C= (p.Pro1212=)
c.3509C= (p.Pro1170=)
c.3638C= (p.Pro1213=)
2g.73450162C>GCA1713564ALMS1c.3254C>G (p.Pro1085Arg)
c.685+17871C>G
c.706C>G
c.3635C>G (p.Pro1212Arg)
c.3509C>G (p.Pro1170Arg)
c.3638C>G (p.Pro1213Arg)
 ClinVar dbSNP ExAC gnomAD v2
2g.73450162C>TCA347276092ALMS1c.3254C>T (p.Pro1085Leu)
c.685+17871C>T
c.706C>T
c.3635C>T (p.Pro1212Leu)
c.3509C>T (p.Pro1170Leu)
c.3638C>T (p.Pro1213Leu)
 ClinVar dbSNP
2g.73450163T>ACA427020223ALMS1c.3255T>A (p.Pro1085=)
c.685+17872T>A
c.707T>A
c.3636T>A (p.Pro1212=)
c.3510T>A (p.Pro1170=)
c.3639T>A (p.Pro1213=)
2g.73450163T>CCA427020225ALMS1c.3255T>C (p.Pro1085=)
c.685+17872T>C
c.707T>C
c.3636T>C (p.Pro1212=)
c.3510T>C (p.Pro1170=)
c.3639T>C (p.Pro1213=)
2g.73450163T>GCA427020227ALMS1c.3255T>G (p.Pro1085=)
c.685+17872T>G
c.707T>G
c.3636T>G (p.Pro1212=)
c.3510T>G (p.Pro1170=)
c.3639T>G (p.Pro1213=)
2g.73450164G>ACA347276094ALMS1c.3256G>A (p.Glu1086Lys)
c.685+17873G>A
c.708G>A
c.3637G>A (p.Glu1213Lys)
c.3511G>A (p.Glu1171Lys)
c.3640G>A (p.Glu1214Lys)
2g.73450164G>CCA1713565ALMS1c.3256G>C (p.Glu1086Gln)
c.685+17873G>C
c.708G>C
c.3637G>C (p.Glu1213Gln)
c.3511G>C (p.Glu1171Gln)
c.3640G>C (p.Glu1214Gln)
 dbSNP ExAC gnomAD v2
2g.73450164G=CA1260958947ALMS1c.3256G= (p.Glu1086=)
c.685+17873G=
c.708G=
c.3637G= (p.Glu1213=)
c.3511G= (p.Glu1171=)
c.3640G= (p.Glu1214=)
2g.73450164G>TCA347276095ALMS1c.3256G>T (p.Glu1086Ter)
c.685+17873G>T
c.708G>T
c.3637G>T (p.Glu1213Ter)
c.3511G>T (p.Glu1171Ter)
c.3640G>T (p.Glu1214Ter)
2g.73450165A=CA1260958948ALMS1c.3257A= (p.Glu1086=)
c.685+17874A=
c.709A=
c.3638A= (p.Glu1213=)
c.3512A= (p.Glu1171=)
c.3641A= (p.Glu1214=)
2g.73450165A>CCA347276098ALMS1c.3257A>C (p.Glu1086Ala)
c.685+17874A>C
c.709A>C
c.3638A>C (p.Glu1213Ala)
c.3512A>C (p.Glu1171Ala)
c.3641A>C (p.Glu1214Ala)
2g.73450165A>GCA50392691ALMS1c.3257A>G (p.Glu1086Gly)
c.685+17874A>G
c.709A>G
c.3638A>G (p.Glu1213Gly)
c.3512A>G (p.Glu1171Gly)
c.3641A>G (p.Glu1214Gly)
 dbSNP
2g.73450165A>TCA347276096ALMS1c.3257A>T (p.Glu1086Val)
c.685+17874A>T
c.709A>T
c.3638A>T (p.Glu1213Val)
c.3512A>T (p.Glu1171Val)
c.3641A>T (p.Glu1214Val)
2g.73450166A>CCA347276100ALMS1c.3258A>C (p.Glu1086Asp)
c.685+17875A>C
c.710A>C
c.3639A>C (p.Glu1213Asp)
c.3513A>C (p.Glu1171Asp)
c.3642A>C (p.Glu1214Asp)
2g.73450166A>GCA427020232ALMS1c.3258A>G (p.Glu1086=)
c.685+17875A>G
c.710A>G
c.3639A>G (p.Glu1213=)
c.3513A>G (p.Glu1171=)
c.3642A>G (p.Glu1214=)
2g.73450166A>TCA347276101ALMS1c.3258A>T (p.Glu1086Asp)
c.685+17875A>T
c.710A>T
c.3639A>T (p.Glu1213Asp)
c.3513A>T (p.Glu1171Asp)
c.3642A>T (p.Glu1214Asp)
2g.73450167G>ACA347276103ALMS1c.3259G>A (p.Glu1087Lys)
c.685+17876G>A
c.711G>A
c.3640G>A (p.Glu1214Lys)
c.3514G>A (p.Glu1172Lys)
c.3643G>A (p.Glu1215Lys)
2g.73450167G>CCA347276104ALMS1c.3259G>C (p.Glu1087Gln)
c.685+17876G>C
c.711G>C
c.3640G>C (p.Glu1214Gln)
c.3514G>C (p.Glu1172Gln)
c.3643G>C (p.Glu1215Gln)
2g.73450167G>TCA347276105ALMS1c.3259G>T (p.Glu1087Ter)
c.685+17876G>T
c.711G>T
c.3640G>T (p.Glu1214Ter)
c.3514G>T (p.Glu1172Ter)
c.3643G>T (p.Glu1215Ter)
2g.73450168A>CCA347276107ALMS1c.3260A>C (p.Glu1087Ala)
c.685+17877A>C
c.712A>C
c.3641A>C (p.Glu1214Ala)
c.3515A>C (p.Glu1172Ala)
c.3644A>C (p.Glu1215Ala)
 ClinVar gnomAD v4
2g.73450168A>GCA347276108ALMS1c.3260A>G (p.Glu1087Gly)
c.685+17877A>G
c.712A>G
c.3641A>G (p.Glu1214Gly)
c.3515A>G (p.Glu1172Gly)
c.3644A>G (p.Glu1215Gly)
2g.73450168A>TCA347276109ALMS1c.3260A>T (p.Glu1087Val)
c.685+17877A>T
c.712A>T
c.3641A>T (p.Glu1214Val)
c.3515A>T (p.Glu1172Val)
c.3644A>T (p.Glu1215Val)
2g.73450169G>ACA427020237ALMS1c.3261G>A (p.Glu1087=)
c.685+17878G>A
c.713G>A
c.3642G>A (p.Glu1214=)
c.3516G>A (p.Glu1172=)
c.3645G>A (p.Glu1215=)
 gnomAD v4
2g.73450169G>CCA347276110ALMS1c.3261G>C (p.Glu1087Asp)
c.685+17878G>C
c.713G>C
c.3642G>C (p.Glu1214Asp)
c.3516G>C (p.Glu1172Asp)
c.3645G>C (p.Glu1215Asp)
2g.73450169G>TCA347276111ALMS1c.3261G>T (p.Glu1087Asp)
c.685+17878G>T
c.713G>T
c.3642G>T (p.Glu1214Asp)
c.3516G>T (p.Glu1172Asp)
c.3645G>T (p.Glu1215Asp)
2g.73450170G>ACA347276113ALMS1c.3262G>A (p.Ala1088Thr)
c.685+17879G>A
c.714G>A
c.3643G>A (p.Ala1215Thr)
c.3517G>A (p.Ala1173Thr)
c.3646G>A (p.Ala1216Thr)
2g.73450170G>CCA347276114ALMS1c.3262G>C (p.Ala1088Pro)
c.685+17879G>C
c.714G>C
c.3643G>C (p.Ala1215Pro)
c.3517G>C (p.Ala1173Pro)
c.3646G>C (p.Ala1216Pro)
2g.73450170G>TCA347276115ALMS1c.3262G>T (p.Ala1088Ser)
c.685+17879G>T
c.714G>T
c.3643G>T (p.Ala1215Ser)
c.3517G>T (p.Ala1173Ser)
c.3646G>T (p.Ala1216Ser)
2g.73450171C>ACA347276120ALMS1c.3263C>A (p.Ala1088Glu)
c.685+17880C>A
c.715C>A
c.3644C>A (p.Ala1215Glu)
c.3518C>A (p.Ala1173Glu)
c.3647C>A (p.Ala1216Glu)
2g.73450171C>GCA347276117ALMS1c.3263C>G (p.Ala1088Gly)
c.685+17880C>G
c.715C>G
c.3644C>G (p.Ala1215Gly)
c.3518C>G (p.Ala1173Gly)
c.3647C>G (p.Ala1216Gly)
2g.73450171C>TCA347276118ALMS1c.3263C>T (p.Ala1088Val)
c.685+17880C>T
c.715C>T
c.3644C>T (p.Ala1215Val)
c.3518C>T (p.Ala1173Val)
c.3647C>T (p.Ala1216Val)
 ClinVar dbSNP gnomAD v4
2g.73450172A>CCA427020244ALMS1c.3264A>C (p.Ala1088=)
c.685+17881A>C
c.716A>C
c.3645A>C (p.Ala1215=)
c.3519A>C (p.Ala1173=)
c.3648A>C (p.Ala1216=)
2g.73450172A>GCA427020240ALMS1c.3264A>G (p.Ala1088=)
c.685+17881A>G
c.716A>G
c.3645A>G (p.Ala1215=)
c.3519A>G (p.Ala1173=)
c.3648A>G (p.Ala1216=)
2g.73450172A>TCA427020242ALMS1c.3264A>T (p.Ala1088=)
c.685+17881A>T
c.716A>T
c.3645A>T (p.Ala1215=)
c.3519A>T (p.Ala1173=)
c.3648A>T (p.Ala1216=)
2g.73450173C>ACA347276121ALMS1c.3265C>A (p.Gln1089Lys)
c.685+17882C>A
c.717C>A
c.3646C>A (p.Gln1216Lys)
c.3520C>A (p.Gln1174Lys)
c.3649C>A (p.Gln1217Lys)
2g.73450173C>GCA347276122ALMS1c.3265C>G (p.Gln1089Glu)
c.685+17882C>G
c.717C>G
c.3646C>G (p.Gln1216Glu)
c.3520C>G (p.Gln1174Glu)
c.3649C>G (p.Gln1217Glu)
2g.73450173C>TCA347276123ALMS1c.3265C>T (p.Gln1089Ter)
c.685+17882C>T
c.717C>T
c.3646C>T (p.Gln1216Ter)
c.3520C>T (p.Gln1174Ter)
c.3649C>T (p.Gln1217Ter)
2g.73450174A>CCA347276124ALMS1c.3266A>C (p.Gln1089Pro)
c.685+17883A>C
c.718A>C
c.3647A>C (p.Gln1216Pro)
c.3521A>C (p.Gln1174Pro)
c.3650A>C (p.Gln1217Pro)
2g.73450174A>GCA347276125ALMS1c.3266A>G (p.Gln1089Arg)
c.685+17883A>G
c.718A>G
c.3647A>G (p.Gln1216Arg)
c.3521A>G (p.Gln1174Arg)
c.3650A>G (p.Gln1217Arg)
 gnomAD v4
2g.73450174A>TCA347276126ALMS1c.3266A>T (p.Gln1089Leu)
c.685+17883A>T
c.718A>T
c.3647A>T (p.Gln1216Leu)
c.3521A>T (p.Gln1174Leu)
c.3650A>T (p.Gln1217Leu)
2g.73450175G>ACA427020251ALMS1c.3267G>A (p.Gln1089=)
c.685+17884G>A
c.719G>A
c.3648G>A (p.Gln1216=)
c.3522G>A (p.Gln1174=)
c.3651G>A (p.Gln1217=)
2g.73450175G>CCA347276127ALMS1c.3267G>C (p.Gln1089His)
c.685+17884G>C
c.719G>C
c.3648G>C (p.Gln1216His)
c.3522G>C (p.Gln1174His)
c.3651G>C (p.Gln1217His)
2g.73450175G>TCA347276128ALMS1c.3267G>T (p.Gln1089His)
c.685+17884G>T
c.719G>T
c.3648G>T (p.Gln1216His)
c.3522G>T (p.Gln1174His)
c.3651G>T (p.Gln1217His)
2g.73450176A=CA1260958949ALMS1c.3268A= (p.Lys1090=)
c.685+17885A=
c.720A=
c.3649A= (p.Lys1217=)
c.3523A= (p.Lys1175=)
c.3652A= (p.Lys1218=)
2g.73450176A>CCA347276129ALMS1c.3268A>C (p.Lys1090Gln)
c.685+17885A>C
c.720A>C
c.3649A>C (p.Lys1217Gln)
c.3523A>C (p.Lys1175Gln)
c.3652A>C (p.Lys1218Gln)
2g.73450176A>GCA347276130ALMS1c.3268A>G (p.Lys1090Glu)
c.685+17885A>G
c.720A>G
c.3649A>G (p.Lys1217Glu)
c.3523A>G (p.Lys1175Glu)
c.3652A>G (p.Lys1218Glu)
2g.73450176A>TCA1713566ALMS1c.3268A>T (p.Lys1090Ter)
c.685+17885A>T
c.720A>T
c.3649A>T (p.Lys1217Ter)
c.3523A>T (p.Lys1175Ter)
c.3652A>T (p.Lys1218Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73450177A=CA1260958950ALMS1c.3269A= (p.Lys1090=)
c.685+17886A=
c.721A=
c.3650A= (p.Lys1217=)
c.3524A= (p.Lys1175=)
c.3653A= (p.Lys1218=)
2g.73450177A>CCA347276133ALMS1c.3269A>C (p.Lys1090Thr)
c.685+17886A>C
c.721A>C
c.3650A>C (p.Lys1217Thr)
c.3524A>C (p.Lys1175Thr)
c.3653A>C (p.Lys1218Thr)
2g.73450177A>GCA1713567ALMS1c.3269A>G (p.Lys1090Arg)
c.685+17886A>G
c.721A>G
c.3650A>G (p.Lys1217Arg)
c.3524A>G (p.Lys1175Arg)
c.3653A>G (p.Lys1218Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73450177A>TCA347276132ALMS1c.3269A>T (p.Lys1090Ile)
c.685+17886A>T
c.721A>T
c.3650A>T (p.Lys1217Ile)
c.3524A>T (p.Lys1175Ile)
c.3653A>T (p.Lys1218Ile)
2g.73450178A>CCA347276135ALMS1c.3270A>C (p.Lys1090Asn)
c.685+17887A>C
c.722A>C
c.3651A>C (p.Lys1217Asn)
c.3525A>C (p.Lys1175Asn)
c.3654A>C (p.Lys1218Asn)
2g.73450178A>GCA427020253ALMS1c.3270A>G (p.Lys1090=)
c.685+17887A>G
c.722A>G
c.3651A>G (p.Lys1217=)
c.3525A>G (p.Lys1175=)
c.3654A>G (p.Lys1218=)
 gnomAD v4
2g.73450178A>TCA347276137ALMS1c.3270A>T (p.Lys1090Asn)
c.685+17887A>T
c.722A>T
c.3651A>T (p.Lys1217Asn)
c.3525A>T (p.Lys1175Asn)
c.3654A>T (p.Lys1218Asn)
2g.73450179G>ACA347276138ALMS1c.3271G>A (p.Val1091Ile)
c.685+17888G>A
c.723G>A
c.3652G>A (p.Val1218Ile)
c.3526G>A (p.Val1176Ile)
c.3655G>A (p.Val1219Ile)
2g.73450179G>CCA347276140ALMS1c.3271G>C (p.Val1091Leu)
c.685+17888G>C
c.723G>C
c.3652G>C (p.Val1218Leu)
c.3526G>C (p.Val1176Leu)
c.3655G>C (p.Val1219Leu)
2g.73450179G>TCA347276141ALMS1c.3271G>T (p.Val1091Phe)
c.685+17888G>T
c.723G>T
c.3652G>T (p.Val1218Phe)
c.3526G>T (p.Val1176Phe)
c.3655G>T (p.Val1219Phe)
2g.73450180T>ACA347276146ALMS1c.3272T>A (p.Val1091Asp)
c.685+17889T>A
c.724T>A
c.3653T>A (p.Val1218Asp)
c.3527T>A (p.Val1176Asp)
c.3656T>A (p.Val1219Asp)
2g.73450180T>CCA347276144ALMS1c.3272T>C (p.Val1091Ala)
c.685+17889T>C
c.724T>C
c.3653T>C (p.Val1218Ala)
c.3527T>C (p.Val1176Ala)
c.3656T>C (p.Val1219Ala)
2g.73450180T>GCA347276142ALMS1c.3272T>G (p.Val1091Gly)
c.685+17889T>G
c.724T>G
c.3653T>G (p.Val1218Gly)
c.3527T>G (p.Val1176Gly)
c.3656T>G (p.Val1219Gly)
2g.73450181T>ACA427020257ALMS1c.3273T>A (p.Val1091=)
c.685+17890T>A
c.725T>A
c.3654T>A (p.Val1218=)
c.3528T>A (p.Val1176=)
c.3657T>A (p.Val1219=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73450181T>CCA427020259ALMS1c.3273T>C (p.Val1091=)
c.685+17890T>C
c.725T>C
c.3654T>C (p.Val1218=)
c.3528T>C (p.Val1176=)
c.3657T>C (p.Val1219=)
2g.73450181T>GCA427020260ALMS1c.3273T>G (p.Val1091=)
c.685+17890T>G
c.725T>G
c.3654T>G (p.Val1218=)
c.3528T>G (p.Val1176=)
c.3657T>G (p.Val1219=)
2g.73450181T=CA1260958951ALMS1c.3273T= (p.Val1091=)
c.685+17890T=
c.725T=
c.3654T= (p.Val1218=)
c.3528T= (p.Val1176=)
c.3657T= (p.Val1219=)
2g.73450182T>ACA347276147ALMS1c.3274T>A (p.Ser1092Thr)
c.685+17891T>A
c.726T>A
c.3655T>A (p.Ser1219Thr)
c.3529T>A (p.Ser1177Thr)
c.3658T>A (p.Ser1220Thr)
2g.73450182T>CCA347276149ALMS1c.3274T>C (p.Ser1092Pro)
c.685+17891T>C
c.726T>C
c.3655T>C (p.Ser1219Pro)
c.3529T>C (p.Ser1177Pro)
c.3658T>C (p.Ser1220Pro)
2g.73450182T>GCA347276150ALMS1c.3274T>G (p.Ser1092Ala)
c.685+17891T>G
c.726T>G
c.3655T>G (p.Ser1219Ala)
c.3529T>G (p.Ser1177Ala)
c.3658T>G (p.Ser1220Ala)
2g.73450183C>ACA347276151ALMS1c.3275C>A (p.Ser1092Ter)
c.685+17892C>A
c.727C>A
c.3656C>A (p.Ser1219Ter)
c.3530C>A (p.Ser1177Ter)
c.3659C>A (p.Ser1220Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73450183C=CA1260958952ALMS1c.3275C= (p.Ser1092=)
c.685+17892C=
c.727C=
c.3656C= (p.Ser1219=)
c.3530C= (p.Ser1177=)
c.3659C= (p.Ser1220=)
2g.73450183C>GCA347276152ALMS1c.3275C>G (p.Ser1092Ter)
c.685+17892C>G
c.727C>G
c.3656C>G (p.Ser1219Ter)
c.3530C>G (p.Ser1177Ter)
c.3659C>G (p.Ser1220Ter)
2g.73450183C>TCA347276154ALMS1c.3275C>T (p.Ser1092Leu)
c.685+17892C>T
c.727C>T
c.3656C>T (p.Ser1219Leu)
c.3530C>T (p.Ser1177Leu)
c.3659C>T (p.Ser1220Leu)
2g.73450184A=CA1260958953ALMS1c.3276A= (p.Ser1092=)
c.685+17893A=
c.728A=
c.3657A= (p.Ser1219=)
c.3531A= (p.Ser1177=)
c.3660A= (p.Ser1220=)
2g.73450184A>CCA427020262ALMS1c.3276A>C (p.Ser1092=)
c.685+17893A>C
c.728A>C
c.3657A>C (p.Ser1219=)
c.3531A>C (p.Ser1177=)
c.3660A>C (p.Ser1220=)
2g.73450184A>GCA427020263ALMS1c.3276A>G (p.Ser1092=)
c.685+17893A>G
c.728A>G
c.3657A>G (p.Ser1219=)
c.3531A>G (p.Ser1177=)
c.3660A>G (p.Ser1220=)
2g.73450184A>TCA427020265ALMS1c.3276A>T (p.Ser1092=)
c.685+17893A>T
c.728A>T
c.3657A>T (p.Ser1219=)
c.3531A>T (p.Ser1177=)
c.3660A>T (p.Ser1220=)
 dbSNP gnomAD v3 gnomAD v4
2g.73450185C>ACA347276155ALMS1c.3277C>A (p.Pro1093Thr)
c.685+17894C>A
c.729C>A
c.3658C>A (p.Pro1220Thr)
c.3532C>A (p.Pro1178Thr)
c.3661C>A (p.Pro1221Thr)
2g.73450185C=CA1260958954ALMS1c.3277C= (p.Pro1093=)
c.685+17894C=
c.729C=
c.3658C= (p.Pro1220=)
c.3532C= (p.Pro1178=)
c.3661C= (p.Pro1221=)
2g.73450185C>GCA347276157ALMS1c.3277C>G (p.Pro1093Ala)
c.685+17894C>G
c.729C>G
c.3658C>G (p.Pro1220Ala)
c.3532C>G (p.Pro1178Ala)
c.3661C>G (p.Pro1221Ala)
2g.73450185C>TCA1713568ALMS1c.3277C>T (p.Pro1093Ser)
c.685+17894C>T
c.729C>T
c.3658C>T (p.Pro1220Ser)
c.3532C>T (p.Pro1178Ser)
c.3661C>T (p.Pro1221Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73450186C>ACA347276159ALMS1c.3278C>A (p.Pro1093His)
c.685+17895C>A
c.730C>A
c.3659C>A (p.Pro1220His)
c.3533C>A (p.Pro1178His)
c.3662C>A (p.Pro1221His)
2g.73450186C>GCA347276160ALMS1c.3278C>G (p.Pro1093Arg)
c.685+17895C>G
c.730C>G
c.3659C>G (p.Pro1220Arg)
c.3533C>G (p.Pro1178Arg)
c.3662C>G (p.Pro1221Arg)
2g.73450186C>TCA347276162ALMS1c.3278C>T (p.Pro1093Leu)
c.685+17895C>T
c.730C>T
c.3659C>T (p.Pro1220Leu)
c.3533C>T (p.Pro1178Leu)
c.3662C>T (p.Pro1221Leu)
2g.73450187T>ACA427020270ALMS1c.3279T>A (p.Pro1093=)
c.685+17896T>A
c.731T>A
c.3660T>A (p.Pro1220=)
c.3534T>A (p.Pro1178=)
c.3663T>A (p.Pro1221=)
2g.73450187T>CCA427020271ALMS1c.3279T>C (p.Pro1093=)
c.685+17896T>C
c.731T>C
c.3660T>C (p.Pro1220=)
c.3534T>C (p.Pro1178=)
c.3663T>C (p.Pro1221=)
 gnomAD v4
2g.73450187T>GCA427020272ALMS1c.3279T>G (p.Pro1093=)
c.685+17896T>G
c.731T>G
c.3660T>G (p.Pro1220=)
c.3534T>G (p.Pro1178=)
c.3663T>G (p.Pro1221=)
2g.73450188G>ACA1713569ALMS1c.3280G>A (p.Val1094Ile)
c.685+17897G>A
c.732G>A
c.3661G>A (p.Val1221Ile)
c.3535G>A (p.Val1179Ile)
c.3664G>A (p.Val1222Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73450188G>CCA347276164ALMS1c.3280G>C (p.Val1094Leu)
c.685+17897G>C
c.732G>C
c.3661G>C (p.Val1221Leu)
c.3535G>C (p.Val1179Leu)
c.3664G>C (p.Val1222Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.73450188G=CA1260958955ALMS1c.3280G= (p.Val1094=)
c.685+17897G=
c.732G=
c.3661G= (p.Val1221=)
c.3535G= (p.Val1179=)
c.3664G= (p.Val1222=)
2g.73450188G>TCA347276165ALMS1c.3280G>T (p.Val1094Phe)
c.685+17897G>T
c.732G>T
c.3661G>T (p.Val1221Phe)
c.3535G>T (p.Val1179Phe)
c.3664G>T (p.Val1222Phe)
2g.73450189T>ACA347276166ALMS1c.3281T>A (p.Val1094Asp)
c.685+17898T>A
c.733T>A
c.3662T>A (p.Val1221Asp)
c.3536T>A (p.Val1179Asp)
c.3665T>A (p.Val1222Asp)
2g.73450189T>CCA347276168ALMS1c.3281T>C (p.Val1094Ala)
c.685+17898T>C
c.733T>C
c.3662T>C (p.Val1221Ala)
c.3536T>C (p.Val1179Ala)
c.3665T>C (p.Val1222Ala)
2g.73450189T>GCA347276169ALMS1c.3281T>G (p.Val1094Gly)
c.685+17898T>G
c.733T>G
c.3662T>G (p.Val1221Gly)
c.3536T>G (p.Val1179Gly)
c.3665T>G (p.Val1222Gly)
2g.73450190T>ACA427020276ALMS1c.3282T>A (p.Val1094=)
c.685+17899T>A
c.734T>A
c.3663T>A (p.Val1221=)
c.3537T>A (p.Val1179=)
c.3666T>A (p.Val1222=)
2g.73450190T>CCA427020277ALMS1c.3282T>C (p.Val1094=)
c.685+17899T>C
c.734T>C
c.3663T>C (p.Val1221=)
c.3537T>C (p.Val1179=)
c.3666T>C (p.Val1222=)
2g.73450190T>GCA427020279ALMS1c.3282T>G (p.Val1094=)
c.685+17899T>G
c.734T>G
c.3663T>G (p.Val1221=)
c.3537T>G (p.Val1179=)
c.3666T>G (p.Val1222=)
2g.73450191C>ACA347276171ALMS1c.3283C>A (p.Leu1095Ile)
c.685+17900C>A
c.735C>A
c.3664C>A (p.Leu1222Ile)
c.3538C>A (p.Leu1180Ile)
c.3667C>A (p.Leu1223Ile)
 ClinVar gnomAD v4
2g.73450191C>GCA347276172ALMS1c.3283C>G (p.Leu1095Val)
c.685+17900C>G
c.735C>G
c.3664C>G (p.Leu1222Val)
c.3538C>G (p.Leu1180Val)
c.3667C>G (p.Leu1223Val)
2g.73450191C>TCA347276174ALMS1c.3283C>T (p.Leu1095Phe)
c.685+17900C>T
c.735C>T
c.3664C>T (p.Leu1222Phe)
c.3538C>T (p.Leu1180Phe)
c.3667C>T (p.Leu1223Phe)
 gnomAD v4
2g.73450192T>ACA347276175ALMS1c.3284T>A (p.Leu1095His)
c.685+17901T>A
c.736T>A
c.3665T>A (p.Leu1222His)
c.3539T>A (p.Leu1180His)
c.3668T>A (p.Leu1223His)
2g.73450192T>CCA50392718ALMS1c.3284T>C (p.Leu1095Pro)
c.685+17901T>C
c.736T>C
c.3665T>C (p.Leu1222Pro)
c.3539T>C (p.Leu1180Pro)
c.3668T>C (p.Leu1223Pro)
 dbSNP
2g.73450192T>GCA1713570ALMS1c.3284T>G (p.Leu1095Arg)
c.685+17901T>G
c.736T>G
c.3665T>G (p.Leu1222Arg)
c.3539T>G (p.Leu1180Arg)
c.3668T>G (p.Leu1223Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73450192T=CA1260958956ALMS1c.3284T= (p.Leu1095=)
c.685+17901T=
c.736T=
c.3665T= (p.Leu1222=)
c.3539T= (p.Leu1180=)
c.3668T= (p.Leu1223=)
2g.73450193T>ACA427020283ALMS1c.3285T>A (p.Leu1095=)
c.685+17902T>A
c.737T>A
c.3666T>A (p.Leu1222=)
c.3540T>A (p.Leu1180=)
c.3669T>A (p.Leu1223=)
2g.73450193T>CCA427020285ALMS1c.3285T>C (p.Leu1095=)
c.685+17902T>C
c.737T>C
c.3666T>C (p.Leu1222=)
c.3540T>C (p.Leu1180=)
c.3669T>C (p.Leu1223=)
2g.73450193T>GCA427020284ALMS1c.3285T>G (p.Leu1095=)
c.685+17902T>G
c.737T>G
c.3666T>G (p.Leu1222=)
c.3540T>G (p.Leu1180=)
c.3669T>G (p.Leu1223=)
 dbSNP
2g.73450193T=CA1260958957ALMS1c.3285T= (p.Leu1095=)
c.685+17902T=
c.737T=
c.3666T= (p.Leu1222=)
c.3540T= (p.Leu1180=)
c.3669T= (p.Leu1223=)
2g.73450194G>ACA347276179ALMS1c.3286G>A (p.Gly1096Arg)
c.685+17903G>A
c.738G>A
c.3667G>A (p.Gly1223Arg)
c.3541G>A (p.Gly1181Arg)
c.3670G>A (p.Gly1224Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73450194G>CCA347276178ALMS1c.3286G>C (p.Gly1096Arg)
c.685+17903G>C
c.738G>C
c.3667G>C (p.Gly1223Arg)
c.3541G>C (p.Gly1181Arg)
c.3670G>C (p.Gly1224Arg)
2g.73450194G=CA1260958958ALMS1c.3286G= (p.Gly1096=)
c.685+17903G=
c.738G=
c.3667G= (p.Gly1223=)
c.3541G= (p.Gly1181=)
c.3670G= (p.Gly1224=)
2g.73450194G>TCA347276181ALMS1c.3286G>T (p.Gly1096Ter)
c.685+17903G>T
c.738G>T
c.3667G>T (p.Gly1223Ter)
c.3541G>T (p.Gly1181Ter)
c.3670G>T (p.Gly1224Ter)
2g.73450195G>ACA347276182ALMS1c.3287G>A (p.Gly1096Glu)
c.685+17904G>A
c.739G>A
c.3668G>A (p.Gly1223Glu)
c.3542G>A (p.Gly1181Glu)
c.3671G>A (p.Gly1224Glu)
2g.73450195G>CCA347276183ALMS1c.3287G>C (p.Gly1096Ala)
c.685+17904G>C
c.739G>C
c.3668G>C (p.Gly1223Ala)
c.3542G>C (p.Gly1181Ala)
c.3671G>C (p.Gly1224Ala)
2g.73450195G>TCA347276184ALMS1c.3287G>T (p.Gly1096Val)
c.685+17904G>T
c.739G>T
c.3668G>T (p.Gly1223Val)
c.3542G>T (p.Gly1181Val)
c.3671G>T (p.Gly1224Val)
2g.73450196A>CCA427020287ALMS1c.3288A>C (p.Gly1096=)
c.685+17905A>C
c.740A>C
c.3669A>C (p.Gly1223=)
c.3543A>C (p.Gly1181=)
c.3672A>C (p.Gly1224=)
2g.73450196A>GCA427020288ALMS1c.3288A>G (p.Gly1096=)
c.685+17905A>G
c.740A>G
c.3669A>G (p.Gly1223=)
c.3543A>G (p.Gly1181=)
c.3672A>G (p.Gly1224=)
2g.73450196A>TCA427020290ALMS1c.3288A>T (p.Gly1096=)
c.685+17905A>T
c.740A>T
c.3669A>T (p.Gly1223=)
c.3543A>T (p.Gly1181=)
c.3672A>T (p.Gly1224=)
2g.73450197C>ACA347276185ALMS1c.3289C>A (p.Pro1097Thr)
c.685+17906C>A
c.741C>A
c.3670C>A (p.Pro1224Thr)
c.3544C>A (p.Pro1182Thr)
c.3673C>A (p.Pro1225Thr)
 gnomAD v4
2g.73450197C>GCA347276186ALMS1c.3289C>G (p.Pro1097Ala)
c.685+17906C>G
c.741C>G
c.3670C>G (p.Pro1224Ala)
c.3544C>G (p.Pro1182Ala)
c.3673C>G (p.Pro1225Ala)
2g.73450197C>TCA347276187ALMS1c.3289C>T (p.Pro1097Ser)
c.685+17906C>T
c.741C>T
c.3670C>T (p.Pro1224Ser)
c.3544C>T (p.Pro1182Ser)
c.3673C>T (p.Pro1225Ser)
2g.73450198C>ACA347276189ALMS1c.3290C>A (p.Pro1097Gln)
c.685+17907C>A
c.742C>A
c.3671C>A (p.Pro1224Gln)
c.3545C>A (p.Pro1182Gln)
c.3674C>A (p.Pro1225Gln)
2g.73450198C>GCA347276191ALMS1c.3290C>G (p.Pro1097Arg)
c.685+17907C>G
c.742C>G
c.3671C>G (p.Pro1224Arg)
c.3545C>G (p.Pro1182Arg)
c.3674C>G (p.Pro1225Arg)
2g.73450198C>TCA347276192ALMS1c.3290C>T (p.Pro1097Leu)
c.685+17907C>T
c.742C>T
c.3671C>T (p.Pro1224Leu)
c.3545C>T (p.Pro1182Leu)
c.3674C>T (p.Pro1225Leu)
 gnomAD v4
2g.73450199A>CCA427020293ALMS1c.3291A>C (p.Pro1097=)
c.685+17908A>C
c.743A>C
c.3672A>C (p.Pro1224=)
c.3546A>C (p.Pro1182=)
c.3675A>C (p.Pro1225=)
2g.73450199A>GCA427020296ALMS1c.3291A>G (p.Pro1097=)
c.685+17908A>G
c.743A>G
c.3672A>G (p.Pro1224=)
c.3546A>G (p.Pro1182=)
c.3675A>G (p.Pro1225=)
2g.73450199A>TCA427020297ALMS1c.3291A>T (p.Pro1097=)
c.685+17908A>T
c.743A>T
c.3672A>T (p.Pro1224=)
c.3546A>T (p.Pro1182=)
c.3675A>T (p.Pro1225=)
2g.73450200G>ACA347276193ALMS1c.3292G>A (p.Ala1098Thr)
c.685+17909G>A
c.744G>A
c.3673G>A (p.Ala1225Thr)
c.3547G>A (p.Ala1183Thr)
c.3676G>A (p.Ala1226Thr)
2g.73450200G>CCA347276195ALMS1c.3292G>C (p.Ala1098Pro)
c.685+17909G>C
c.744G>C
c.3673G>C (p.Ala1225Pro)
c.3547G>C (p.Ala1183Pro)
c.3676G>C (p.Ala1226Pro)
2g.73450200G>TCA347276196ALMS1c.3292G>T (p.Ala1098Ser)
c.685+17909G>T
c.744G>T
c.3673G>T (p.Ala1225Ser)
c.3547G>T (p.Ala1183Ser)
c.3676G>T (p.Ala1226Ser)
2g.73450201C>ACA347276200ALMS1c.3293C>A (p.Ala1098Asp)
c.685+17910C>A
c.745C>A
c.3674C>A (p.Ala1225Asp)
c.3548C>A (p.Ala1183Asp)
c.3677C>A (p.Ala1226Asp)
2g.73450201C=CA1260958959ALMS1c.3293C= (p.Ala1098=)
c.685+17910C=
c.745C=
c.3674C= (p.Ala1225=)
c.3548C= (p.Ala1183=)
c.3677C= (p.Ala1226=)
2g.73450201C>GCA347276198ALMS1c.3293C>G (p.Ala1098Gly)
c.685+17910C>G
c.745C>G
c.3674C>G (p.Ala1225Gly)
c.3548C>G (p.Ala1183Gly)
c.3677C>G (p.Ala1226Gly)
2g.73450201C>TCA347276199ALMS1c.3293C>T (p.Ala1098Val)
c.685+17910C>T
c.745C>T
c.3674C>T (p.Ala1225Val)
c.3548C>T (p.Ala1183Val)
c.3677C>T (p.Ala1226Val)
 dbSNP gnomAD v2
2g.73450202T>ACA427020302ALMS1c.3294T>A (p.Ala1098=)
c.685+17911T>A
c.746T>A
c.3675T>A (p.Ala1225=)
c.3549T>A (p.Ala1183=)
c.3678T>A (p.Ala1226=)
2g.73450202T>CCA427020303ALMS1c.3294T>C (p.Ala1098=)
c.685+17911T>C
c.746T>C
c.3675T>C (p.Ala1225=)
c.3549T>C (p.Ala1183=)
c.3678T>C (p.Ala1226=)
 ClinVar dbSNP gnomAD v4
2g.73450202T>GCA427020304ALMS1c.3294T>G (p.Ala1098=)
c.685+17911T>G
c.746T>G
c.3675T>G (p.Ala1225=)
c.3549T>G (p.Ala1183=)
c.3678T>G (p.Ala1226=)
 gnomAD v4
2g.73450202T=CA1260958960ALMS1c.3294T= (p.Ala1098=)
c.685+17911T=
c.746T=
c.3675T= (p.Ala1225=)
c.3549T= (p.Ala1183=)
c.3678T= (p.Ala1226=)
2g.73450203G>ACA347276202ALMS1c.3295G>A (p.Asp1099Asn)
c.685+17912G>A
c.747G>A
c.3676G>A (p.Asp1226Asn)
c.3550G>A (p.Asp1184Asn)
c.3679G>A (p.Asp1227Asn)
2g.73450203G>CCA347276203ALMS1c.3295G>C (p.Asp1099His)
c.685+17912G>C
c.747G>C
c.3676G>C (p.Asp1226His)
c.3550G>C (p.Asp1184His)
c.3679G>C (p.Asp1227His)
2g.73450203G>TCA347276204ALMS1c.3295G>T (p.Asp1099Tyr)
c.685+17912G>T
c.747G>T
c.3676G>T (p.Asp1226Tyr)
c.3550G>T (p.Asp1184Tyr)
c.3679G>T (p.Asp1227Tyr)
 gnomAD v4
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.73450204A>CCA347276206ALMS1c.3296A>C (p.Asp1099Ala)
c.685+17913A>C
c.748A>C
c.3677A>C (p.Asp1226Ala)
c.3551A>C (p.Asp1184Ala)
c.3680A>C (p.Asp1227Ala)
2g.73450204A>GCA347276208ALMS1c.3296A>G (p.Asp1099Gly)
c.685+17913A>G
c.748A>G
c.3677A>G (p.Asp1226Gly)
c.3551A>G (p.Asp1184Gly)
c.3680A>G (p.Asp1227Gly)
2g.73450204A>TCA347276209ALMS1c.3296A>T (p.Asp1099Val)
c.685+17913A>T
c.748A>T
c.3677A>T (p.Asp1226Val)
c.3551A>T (p.Asp1184Val)
c.3680A>T (p.Asp1227Val)
2g.73450205C>ACA347276211ALMS1c.3297C>A (p.Asp1099Glu)
c.685+17914C>A
c.749C>A
c.3678C>A (p.Asp1226Glu)
c.3552C>A (p.Asp1184Glu)
c.3681C>A (p.Asp1227Glu)
2g.73450205C=CA1260958961ALMS1c.3297C= (p.Asp1099=)
c.685+17914C=
c.749C=
c.3678C= (p.Asp1226=)
c.3552C= (p.Asp1184=)
c.3681C= (p.Asp1227=)
2g.73450205C>GCA347276212ALMS1c.3297C>G (p.Asp1099Glu)
c.685+17914C>G
c.749C>G
c.3678C>G (p.Asp1226Glu)
c.3552C>G (p.Asp1184Glu)
c.3681C>G (p.Asp1227Glu)
 ClinVar dbSNP
2g.73450205C>TCA427020309ALMS1c.3297C>T (p.Asp1099=)
c.685+17914C>T
c.749C>T
c.3678C>T (p.Asp1226=)
c.3552C>T (p.Asp1184=)
c.3681C>T (p.Asp1227=)
 dbSNP
2g.73450206C>ACA347276213ALMS1c.3298C>A (p.Gln1100Lys)
c.685+17915C>A
c.750C>A
c.3679C>A (p.Gln1227Lys)
c.3553C>A (p.Gln1185Lys)
c.3682C>A (p.Gln1228Lys)
2g.73450206C>GCA347276215ALMS1c.3298C>G (p.Gln1100Glu)
c.685+17915C>G
c.750C>G
c.3679C>G (p.Gln1227Glu)
c.3553C>G (p.Gln1185Glu)
c.3682C>G (p.Gln1228Glu)
 gnomAD v4
2g.73450206C>TCA347276216ALMS1c.3298C>T (p.Gln1100Ter)
c.685+17915C>T
c.750C>T
c.3679C>T (p.Gln1227Ter)
c.3553C>T (p.Gln1185Ter)
c.3682C>T (p.Gln1228Ter)
2g.73450207A=CA1260958962ALMS1c.3299A= (p.Gln1100=)
c.685+17916A=
c.751A=
c.3680A= (p.Gln1227=)
c.3554A= (p.Gln1185=)
c.3683A= (p.Gln1228=)
2g.73450207A>CCA347276220ALMS1c.3299A>C (p.Gln1100Pro)
c.685+17916A>C
c.751A>C
c.3680A>C (p.Gln1227Pro)
c.3554A>C (p.Gln1185Pro)
c.3683A>C (p.Gln1228Pro)
2g.73450207A>GCA1713571ALMS1c.3299A>G (p.Gln1100Arg)
c.685+17916A>G
c.751A>G
c.3680A>G (p.Gln1227Arg)
c.3554A>G (p.Gln1185Arg)
c.3683A>G (p.Gln1228Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73450207A>TCA347276218ALMS1c.3299A>T (p.Gln1100Leu)
c.685+17916A>T
c.751A>T
c.3680A>T (p.Gln1227Leu)
c.3554A>T (p.Gln1185Leu)
c.3683A>T (p.Gln1228Leu)
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=)

Number of alleles fetched