Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73572481_73572546delCA2659617091ALMS1c.10223_10288del (p.Met3408_Asn3429del)
c.3309_3374del
c.7504_7569del
c.4670_4735del (p.Met1557_Asn1578del)
c.7549_7614del
c.10604_10669del (p.Met3535_Asn3556del)
c.758_823del (p.Met253_Asn274del)
c.1960_2025del
c.1701_1766del
c.4095_4160del (n.4095_4160del)
c.10478_10543del (p.Met3493_Asn3514del)
n.4407_4472del
c.10607_10672del (p.Met3536_Asn3557del)
 gnomAD v4
2g.73572483_73572488delinsTCAAACA2586964942ALMS1c.10225_10230delinsTCAAA (p.Asp3409SerfsTer10)
c.3311_3316delinsTCAAA
c.7506_7511delinsTCAAA
c.4672_4677delinsTCAAA (p.Asp1558SerfsTer10)
c.7551_7556delinsTCAAA
c.10606_10611delinsTCAAA (p.Asp3536SerfsTer10)
c.760_765delinsTCAAA (p.Asp254SerfsTer10)
c.1962_1967delinsTCAAA
c.1703_1708delinsTCAAA
c.4097_4102delinsTCAAA (n.4097_4102delinsTCAAA)
c.10480_10485delinsTCAAA (p.Asp3494SerfsTer10)
n.4409_4414delinsTCAAA
c.10609_10614delinsTCAAA (p.Asp3537SerfsTer10)
2g.73572486A>CCA347284120ALMS1c.10228A>C (p.Lys3410Gln)
c.3314A>C
c.7509A>C
c.4675A>C (p.Lys1559Gln)
c.7554A>C
c.10609A>C (p.Lys3537Gln)
c.763A>C (p.Lys255Gln)
c.1965A>C
c.1706A>C
c.4100A>C (n.4100A>C)
c.10483A>C (p.Lys3495Gln)
n.4412A>C
c.10612A>C (p.Lys3538Gln)
2g.73572486A>GCA347284123ALMS1c.10228A>G (p.Lys3410Glu)
c.3314A>G
c.7509A>G
c.4675A>G (p.Lys1559Glu)
c.7554A>G
c.10609A>G (p.Lys3537Glu)
c.763A>G (p.Lys255Glu)
c.1965A>G
c.1706A>G
c.4100A>G (n.4100A>G)
c.10483A>G (p.Lys3495Glu)
n.4412A>G
c.10612A>G (p.Lys3538Glu)
2g.73572486A>TCA347284128ALMS1c.10228A>T (p.Lys3410Ter)
c.3314A>T
c.7509A>T
c.4675A>T (p.Lys1559Ter)
c.7554A>T
c.10609A>T (p.Lys3537Ter)
c.763A>T (p.Lys255Ter)
c.1965A>T
c.1706A>T
c.4100A>T (n.4100A>T)
c.10483A>T (p.Lys3495Ter)
n.4412A>T
c.10612A>T (p.Lys3538Ter)
2g.73572487A>CCA347284133ALMS1c.10229A>C (p.Lys3410Thr)
c.3315A>C
c.7510A>C
c.4676A>C (p.Lys1559Thr)
c.7555A>C
c.10610A>C (p.Lys3537Thr)
c.764A>C (p.Lys255Thr)
c.1966A>C
c.1707A>C
c.4101A>C (n.4101A>C)
c.10484A>C (p.Lys3495Thr)
n.4413A>C
c.10613A>C (p.Lys3538Thr)
2g.73572487A>GCA347284136ALMS1c.10229A>G (p.Lys3410Arg)
c.3315A>G
c.7510A>G
c.4676A>G (p.Lys1559Arg)
c.7555A>G
c.10610A>G (p.Lys3537Arg)
c.764A>G (p.Lys255Arg)
c.1966A>G
c.1707A>G
c.4101A>G (n.4101A>G)
c.10484A>G (p.Lys3495Arg)
n.4413A>G
c.10613A>G (p.Lys3538Arg)
2g.73572487A>TCA347284139ALMS1c.10229A>T (p.Lys3410Met)
c.3315A>T
c.7510A>T
c.4676A>T (p.Lys1559Met)
c.7555A>T
c.10610A>T (p.Lys3537Met)
c.764A>T (p.Lys255Met)
c.1966A>T
c.1707A>T
c.4101A>T (n.4101A>T)
c.10484A>T (p.Lys3495Met)
n.4413A>T
c.10613A>T (p.Lys3538Met)
2g.73572488G>ACA427023997ALMS1c.10230G>A (p.Lys3410=)
c.3316G>A
c.7511G>A
c.4677G>A (p.Lys1559=)
c.7556G>A
c.10611G>A (p.Lys3537=)
c.765G>A (p.Lys255=)
c.1967G>A
c.1708G>A
c.4102G>A (n.4102G>A)
c.10485G>A (p.Lys3495=)
n.4414G>A
c.10614G>A (p.Lys3538=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572488G>CCA347284148ALMS1c.10230G>C (p.Lys3410Asn)
c.3316G>C
c.7511G>C
c.4677G>C (p.Lys1559Asn)
c.7556G>C
c.10611G>C (p.Lys3537Asn)
c.765G>C (p.Lys255Asn)
c.1967G>C
c.1708G>C
c.4102G>C (n.4102G>C)
c.10485G>C (p.Lys3495Asn)
n.4414G>C
c.10614G>C (p.Lys3538Asn)
2g.73572488G=CA1261021234ALMS1c.10230G= (p.Lys3410=)
c.3316G=
c.7511G=
c.4677G= (p.Lys1559=)
c.7556G=
c.10611G= (p.Lys3537=)
c.765G= (p.Lys255=)
c.1967G=
c.1708G=
c.4102G= (n.4102G=)
c.10485G= (p.Lys3495=)
n.4414G=
c.10614G= (p.Lys3538=)
2g.73572488G>TCA347284145ALMS1c.10230G>T (p.Lys3410Asn)
c.3316G>T
c.7511G>T
c.4677G>T (p.Lys1559Asn)
c.7556G>T
c.10611G>T (p.Lys3537Asn)
c.765G>T (p.Lys255Asn)
c.1967G>T
c.1708G>T
c.4102G>T (n.4102G>T)
c.10485G>T (p.Lys3495Asn)
n.4414G>T
c.10614G>T (p.Lys3538Asn)
2g.73572489A=CA1261021235ALMS1c.10231A= (p.Thr3411=)
c.3317A=
c.7512A=
c.4678A= (p.Thr1560=)
c.7557A=
c.10612A= (p.Thr3538=)
c.766A= (p.Thr256=)
c.1968A=
c.1709A=
c.4103A= (n.4103A=)
c.10486A= (p.Thr3496=)
n.4415A=
c.10615A= (p.Thr3539=)
2g.73572489A>CCA347284153ALMS1c.10231A>C (p.Thr3411Pro)
c.3317A>C
c.7512A>C
c.4678A>C (p.Thr1560Pro)
c.7557A>C
c.10612A>C (p.Thr3538Pro)
c.766A>C (p.Thr256Pro)
c.1968A>C
c.1709A>C
c.4103A>C (n.4103A>C)
c.10486A>C (p.Thr3496Pro)
n.4415A>C
c.10615A>C (p.Thr3539Pro)
 gnomAD v4
2g.73572489A>GCA347284156ALMS1c.10231A>G (p.Thr3411Ala)
c.3317A>G
c.7512A>G
c.4678A>G (p.Thr1560Ala)
c.7557A>G
c.10612A>G (p.Thr3538Ala)
c.766A>G (p.Thr256Ala)
c.1968A>G
c.1709A>G
c.4103A>G (n.4103A>G)
c.10486A>G (p.Thr3496Ala)
n.4415A>G
c.10615A>G (p.Thr3539Ala)
 ClinVar dbSNP gnomAD v4
2g.73572489A>TCA347284159ALMS1c.10231A>T (p.Thr3411Ser)
c.3317A>T
c.7512A>T
c.4678A>T (p.Thr1560Ser)
c.7557A>T
c.10612A>T (p.Thr3538Ser)
c.766A>T (p.Thr256Ser)
c.1968A>T
c.1709A>T
c.4103A>T (n.4103A>T)
c.10486A>T (p.Thr3496Ser)
n.4415A>T
c.10615A>T (p.Thr3539Ser)
2g.73572490C>ACA347284164ALMS1c.10232C>A (p.Thr3411Asn)
c.3318C>A
c.7513C>A
c.4679C>A (p.Thr1560Asn)
c.7558C>A
c.10613C>A (p.Thr3538Asn)
c.767C>A (p.Thr256Asn)
c.1969C>A
c.1C>A
c.1710C>A
c.4104C>A (n.4104C>A)
c.10487C>A (p.Thr3496Asn)
n.4416C>A
c.10616C>A (p.Thr3539Asn)
2g.73572490C>GCA347284166ALMS1c.10232C>G (p.Thr3411Ser)
c.3318C>G
c.7513C>G
c.4679C>G (p.Thr1560Ser)
c.7558C>G
c.10613C>G (p.Thr3538Ser)
c.767C>G (p.Thr256Ser)
c.1969C>G
c.1C>G
c.1710C>G
c.4104C>G (n.4104C>G)
c.10487C>G (p.Thr3496Ser)
n.4416C>G
c.10616C>G (p.Thr3539Ser)
2g.73572490C>TCA347284175ALMS1c.10232C>T (p.Thr3411Ile)
c.3318C>T
c.7513C>T
c.4679C>T (p.Thr1560Ile)
c.7558C>T
c.10613C>T (p.Thr3538Ile)
c.767C>T (p.Thr256Ile)
c.1969C>T
c.1C>T
c.1710C>T
c.4104C>T (n.4104C>T)
c.10487C>T (p.Thr3496Ile)
n.4416C>T
c.10616C>T (p.Thr3539Ile)
 ClinVar
2g.73572491T>ACA427024003ALMS1c.10233T>A (p.Thr3411=)
c.3319T>A
c.7514T>A
c.4680T>A (p.Thr1560=)
c.7559T>A
c.10614T>A (p.Thr3538=)
c.768T>A (p.Thr256=)
c.1970T>A
c.2T>A
c.1711T>A
c.4105T>A (n.4105T>A)
c.10488T>A (p.Thr3496=)
n.4417T>A
c.10617T>A (p.Thr3539=)
2g.73572491T>CCA427024005ALMS1c.10233T>C (p.Thr3411=)
c.3319T>C
c.7514T>C
c.4680T>C (p.Thr1560=)
c.7559T>C
c.10614T>C (p.Thr3538=)
c.768T>C (p.Thr256=)
c.1970T>C
c.2T>C
c.1711T>C
c.4105T>C (n.4105T>C)
c.10488T>C (p.Thr3496=)
n.4417T>C
c.10617T>C (p.Thr3539=)
2g.73572491T>GCA427024008ALMS1c.10233T>G (p.Thr3411=)
c.3319T>G
c.7514T>G
c.4680T>G (p.Thr1560=)
c.7559T>G
c.10614T>G (p.Thr3538=)
c.768T>G (p.Thr256=)
c.1970T>G
c.2T>G
c.1711T>G
c.4105T>G (n.4105T>G)
c.10488T>G (p.Thr3496=)
n.4417T>G
c.10617T>G (p.Thr3539=)
2g.73572492A>CCA347284179ALMS1c.10234A>C (p.Lys3412Gln)
c.3320A>C
c.7515A>C
c.4681A>C (p.Lys1561Gln)
c.7560A>C
c.10615A>C (p.Lys3539Gln)
c.769A>C (p.Lys257Gln)
c.1971A>C
c.3A>C
c.1712A>C
c.4106A>C (n.4106A>C)
c.10489A>C (p.Lys3497Gln)
n.4418A>C
c.10618A>C (p.Lys3540Gln)
2g.73572492A>GCA347284186ALMS1c.10234A>G (p.Lys3412Glu)
c.3320A>G
c.7515A>G
c.4681A>G (p.Lys1561Glu)
c.7560A>G
c.10615A>G (p.Lys3539Glu)
c.769A>G (p.Lys257Glu)
c.1971A>G
c.3A>G
c.1712A>G
c.4106A>G (n.4106A>G)
c.10489A>G (p.Lys3497Glu)
n.4418A>G
c.10618A>G (p.Lys3540Glu)
2g.73572492A>TCA347284181ALMS1c.10234A>T (p.Lys3412Ter)
c.3320A>T
c.7515A>T
c.4681A>T (p.Lys1561Ter)
c.7560A>T
c.10615A>T (p.Lys3539Ter)
c.769A>T (p.Lys257Ter)
c.1971A>T
c.3A>T
c.1712A>T
c.4106A>T (n.4106A>T)
c.10489A>T (p.Lys3497Ter)
n.4418A>T
c.10618A>T (p.Lys3540Ter)
2g.73572493A=CA1261021236ALMS1c.10235A= (p.Lys3412=)
c.3321A=
c.7516A=
c.4682A= (p.Lys1561=)
c.7561A=
c.10616A= (p.Lys3539=)
c.770A= (p.Lys257=)
c.1972A=
c.4A=
c.1713A=
c.4107A= (n.4107A=)
c.10490A= (p.Lys3497=)
n.4419A=
c.10619A= (p.Lys3540=)
2g.73572493A>CCA347284189ALMS1c.10235A>C (p.Lys3412Thr)
c.3321A>C
c.7516A>C
c.4682A>C (p.Lys1561Thr)
c.7561A>C
c.10616A>C (p.Lys3539Thr)
c.770A>C (p.Lys257Thr)
c.1972A>C
c.4A>C
c.1713A>C
c.4107A>C (n.4107A>C)
c.10490A>C (p.Lys3497Thr)
n.4419A>C
c.10619A>C (p.Lys3540Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572493A>GCA347284194ALMS1c.10235A>G (p.Lys3412Arg)
c.3321A>G
c.7516A>G
c.4682A>G (p.Lys1561Arg)
c.7561A>G
c.10616A>G (p.Lys3539Arg)
c.770A>G (p.Lys257Arg)
c.1972A>G
c.4A>G
c.1713A>G
c.4107A>G (n.4107A>G)
c.10490A>G (p.Lys3497Arg)
n.4419A>G
c.10619A>G (p.Lys3540Arg)
 gnomAD v4
2g.73572493A>TCA347284198ALMS1c.10235A>T (p.Lys3412Met)
c.3321A>T
c.7516A>T
c.4682A>T (p.Lys1561Met)
c.7561A>T
c.10616A>T (p.Lys3539Met)
c.770A>T (p.Lys257Met)
c.1972A>T
c.4A>T
c.1713A>T
c.4107A>T (n.4107A>T)
c.10490A>T (p.Lys3497Met)
n.4419A>T
c.10619A>T (p.Lys3540Met)
2g.73572496_73572499delCA2499216271ALMS1c.10238_10241del (p.Thr3413IlefsTer5)
c.3324_3327del
c.7519_7522del
c.4685_4688del (p.Thr1562IlefsTer5)
c.7564_7567del
c.10619_10622del (p.Thr3540IlefsTer5)
c.773_776del (p.Thr258IlefsTer5)
c.1975_1978del
c.7_10del
c.1716_1719del
c.4110_4113del (n.4110_4113del)
c.10493_10496del (p.Thr3498IlefsTer5)
n.4422_4425del
c.10622_10625del (p.Thr3541IlefsTer5)
 ClinVar dbSNP gnomAD v4
2g.73572494G>ACA427024015ALMS1c.10236G>A (p.Lys3412=)
c.3322G>A
c.7517G>A
c.4683G>A (p.Lys1561=)
c.7562G>A
c.10617G>A (p.Lys3539=)
c.771G>A (p.Lys257=)
c.1973G>A
c.5G>A
c.1714G>A
c.4108G>A (n.4108G>A)
c.10491G>A (p.Lys3497=)
n.4420G>A
c.10620G>A (p.Lys3540=)
2g.73572494G>CCA347284201ALMS1c.10236G>C (p.Lys3412Asn)
c.3322G>C
c.7517G>C
c.4683G>C (p.Lys1561Asn)
c.7562G>C
c.10617G>C (p.Lys3539Asn)
c.771G>C (p.Lys257Asn)
c.1973G>C
c.5G>C
c.1714G>C
c.4108G>C (n.4108G>C)
c.10491G>C (p.Lys3497Asn)
n.4420G>C
c.10620G>C (p.Lys3540Asn)
2g.73572494G>TCA347284207ALMS1c.10236G>T (p.Lys3412Asn)
c.3322G>T
c.7517G>T
c.4683G>T (p.Lys1561Asn)
c.7562G>T
c.10617G>T (p.Lys3539Asn)
c.771G>T (p.Lys257Asn)
c.1973G>T
c.5G>T
c.1714G>T
c.4108G>T (n.4108G>T)
c.10491G>T (p.Lys3497Asn)
n.4420G>T
c.10620G>T (p.Lys3540Asn)
2g.73572495A>CCA347284211ALMS1c.10237A>C (p.Thr3413Pro)
c.3323A>C
c.7518A>C
c.4684A>C (p.Thr1562Pro)
c.7563A>C
c.10618A>C (p.Thr3540Pro)
c.772A>C (p.Thr258Pro)
c.1974A>C
c.6A>C
c.1715A>C
c.4109A>C (n.4109A>C)
c.10492A>C (p.Thr3498Pro)
n.4421A>C
c.10621A>C (p.Thr3541Pro)
2g.73572495A>GCA347284213ALMS1c.10237A>G (p.Thr3413Ala)
c.3323A>G
c.7518A>G
c.4684A>G (p.Thr1562Ala)
c.7563A>G
c.10618A>G (p.Thr3540Ala)
c.772A>G (p.Thr258Ala)
c.1974A>G
c.6A>G
c.1715A>G
c.4109A>G (n.4109A>G)
c.10492A>G (p.Thr3498Ala)
n.4421A>G
c.10621A>G (p.Thr3541Ala)
 gnomAD v4
2g.73572495A>TCA347284217ALMS1c.10237A>T (p.Thr3413Ser)
c.3323A>T
c.7518A>T
c.4684A>T (p.Thr1562Ser)
c.7563A>T
c.10618A>T (p.Thr3540Ser)
c.772A>T (p.Thr258Ser)
c.1974A>T
c.6A>T
c.1715A>T
c.4109A>T (n.4109A>T)
c.10492A>T (p.Thr3498Ser)
n.4421A>T
c.10621A>T (p.Thr3541Ser)
2g.73572495_73572496insACCCA2750467769ALMS1c.10237_10238insACC (p.Thr3413delinsAsnPro)
c.3323_3324insACC
c.7518_7519insACC
c.4684_4685insACC (p.Thr1562delinsAsnPro)
c.7563_7564insACC
c.10618_10619insACC (p.Thr3540delinsAsnPro)
c.772_773insACC (p.Thr258delinsAsnPro)
c.1974_1975insACC
c.6_7insACC
c.1715_1716insACC
c.4109_4110insACC (n.4109_4110insACC)
c.10492_10493insACC (p.Thr3498delinsAsnPro)
n.4421_4422insACC
c.10621_10622insACC (p.Thr3541delinsAsnPro)
2g.73572496C>ACA347284220ALMS1c.10238C>A (p.Thr3413Lys)
c.3324C>A
c.7519C>A
c.4685C>A (p.Thr1562Lys)
c.7564C>A
c.10619C>A (p.Thr3540Lys)
c.773C>A (p.Thr258Lys)
c.1975C>A
c.7C>A
c.1716C>A
c.4110C>A (n.4110C>A)
c.10493C>A (p.Thr3498Lys)
n.4422C>A
c.10622C>A (p.Thr3541Lys)
2g.73572496C>GCA347284221ALMS1c.10238C>G (p.Thr3413Arg)
c.3324C>G
c.7519C>G
c.4685C>G (p.Thr1562Arg)
c.7564C>G
c.10619C>G (p.Thr3540Arg)
c.773C>G (p.Thr258Arg)
c.1975C>G
c.7C>G
c.1716C>G
c.4110C>G (n.4110C>G)
c.10493C>G (p.Thr3498Arg)
n.4422C>G
c.10622C>G (p.Thr3541Arg)
2g.73572496C>TCA347284223ALMS1c.10238C>T (p.Thr3413Ile)
c.3324C>T
c.7519C>T
c.4685C>T (p.Thr1562Ile)
c.7564C>T
c.10619C>T (p.Thr3540Ile)
c.773C>T (p.Thr258Ile)
c.1975C>T
c.7C>T
c.1716C>T
c.4110C>T (n.4110C>T)
c.10493C>T (p.Thr3498Ile)
n.4422C>T
c.10622C>T (p.Thr3541Ile)
2g.73572497A>CCA427024029ALMS1c.10239A>C (p.Thr3413=)
c.3325A>C
c.7520A>C
c.4686A>C (p.Thr1562=)
c.7565A>C
c.10620A>C (p.Thr3540=)
c.774A>C (p.Thr258=)
c.1976A>C
c.8A>C
c.1717A>C
c.4111A>C (n.4111A>C)
c.10494A>C (p.Thr3498=)
n.4423A>C
c.10623A>C (p.Thr3541=)
2g.73572497A>GCA427024026ALMS1c.10239A>G (p.Thr3413=)
c.3325A>G
c.7520A>G
c.4686A>G (p.Thr1562=)
c.7565A>G
c.10620A>G (p.Thr3540=)
c.774A>G (p.Thr258=)
c.1976A>G
c.8A>G
c.1717A>G
c.4111A>G (n.4111A>G)
c.10494A>G (p.Thr3498=)
n.4423A>G
c.10623A>G (p.Thr3541=)
 ClinVar dbSNP
2g.73572497A>TCA427024027ALMS1c.10239A>T (p.Thr3413=)
c.3325A>T
c.7520A>T
c.4686A>T (p.Thr1562=)
c.7565A>T
c.10620A>T (p.Thr3540=)
c.774A>T (p.Thr258=)
c.1976A>T
c.8A>T
c.1717A>T
c.4111A>T (n.4111A>T)
c.10494A>T (p.Thr3498=)
n.4423A>T
c.10623A>T (p.Thr3541=)
2g.73572498G>ACA347284235ALMS1c.10240G>A (p.Asp3414Asn)
c.3326G>A
c.7521G>A
c.4687G>A (p.Asp1563Asn)
c.7566G>A
c.10621G>A (p.Asp3541Asn)
c.775G>A (p.Asp259Asn)
c.1977G>A
c.9G>A
c.1718G>A
c.4112G>A (n.4112G>A)
c.10495G>A (p.Asp3499Asn)
n.4424G>A
c.10624G>A (p.Asp3542Asn)
 ClinVar dbSNP
2g.73572498G>CCA347284232ALMS1c.10240G>C (p.Asp3414His)
c.3326G>C
c.7521G>C
c.4687G>C (p.Asp1563His)
c.7566G>C
c.10621G>C (p.Asp3541His)
c.775G>C (p.Asp259His)
c.1977G>C
c.9G>C
c.1718G>C
c.4112G>C (n.4112G>C)
c.10495G>C (p.Asp3499His)
n.4424G>C
c.10624G>C (p.Asp3542His)
2g.73572498G=CA1261021237ALMS1c.10240G= (p.Asp3414=)
c.3326G=
c.7521G=
c.4687G= (p.Asp1563=)
c.7566G=
c.10621G= (p.Asp3541=)
c.775G= (p.Asp259=)
c.1977G=
c.9G=
c.1718G=
c.4112G= (n.4112G=)
c.10495G= (p.Asp3499=)
n.4424G=
c.10624G= (p.Asp3542=)
2g.73572498G>TCA347284229ALMS1c.10240G>T (p.Asp3414Tyr)
c.3326G>T
c.7521G>T
c.4687G>T (p.Asp1563Tyr)
c.7566G>T
c.10621G>T (p.Asp3541Tyr)
c.775G>T (p.Asp259Tyr)
c.1977G>T
c.9G>T
c.1718G>T
c.4112G>T (n.4112G>T)
c.10495G>T (p.Asp3499Tyr)
n.4424G>T
c.10624G>T (p.Asp3542Tyr)
2g.73572499A=CA1261021238ALMS1c.10241A= (p.Asp3414=)
c.3327A=
c.7522A=
c.4688A= (p.Asp1563=)
c.7567A=
c.10622A= (p.Asp3541=)
c.776A= (p.Asp259=)
c.1978A=
c.10A=
c.1719A=
c.4113A= (n.4113A=)
c.10496A= (p.Asp3499=)
n.4425A=
c.10625A= (p.Asp3542=)
2g.73572499A>CCA347284239ALMS1c.10241A>C (p.Asp3414Ala)
c.3327A>C
c.7522A>C
c.4688A>C (p.Asp1563Ala)
c.7567A>C
c.10622A>C (p.Asp3541Ala)
c.776A>C (p.Asp259Ala)
c.1978A>C
c.10A>C
c.1719A>C
c.4113A>C (n.4113A>C)
c.10496A>C (p.Asp3499Ala)
n.4425A>C
c.10625A>C (p.Asp3542Ala)
2g.73572499A>GCA347284244ALMS1c.10241A>G (p.Asp3414Gly)
c.3327A>G
c.7522A>G
c.4688A>G (p.Asp1563Gly)
c.7567A>G
c.10622A>G (p.Asp3541Gly)
c.776A>G (p.Asp259Gly)
c.1978A>G
c.10A>G
c.1719A>G
c.4113A>G (n.4113A>G)
c.10496A>G (p.Asp3499Gly)
n.4425A>G
c.10625A>G (p.Asp3542Gly)
2g.73572499A>TCA347284243ALMS1c.10241A>T (p.Asp3414Val)
c.3327A>T
c.7522A>T
c.4688A>T (p.Asp1563Val)
c.7567A>T
c.10622A>T (p.Asp3541Val)
c.776A>T (p.Asp259Val)
c.1978A>T
c.10A>T
c.1719A>T
c.4113A>T (n.4113A>T)
c.10496A>T (p.Asp3499Val)
n.4425A>T
c.10625A>T (p.Asp3542Val)
2g.73572499_73572500insACGGGCA534123606ALMS1c.10241_10242insACGGG (p.Asp3414GlufsTer7)
c.3327_3328insACGGG
c.7522_7523insACGGG
c.4688_4689insACGGG (p.Asp1563GlufsTer7)
c.7567_7568insACGGG
c.10622_10623insACGGG (p.Asp3541GlufsTer7)
c.776_777insACGGG (p.Asp259GlufsTer7)
c.1978_1979insACGGG
c.10_11insACGGG
c.1719_1720insACGGG
c.4113_4114insACGGG (n.4113_4114insACGGG)
c.10496_10497insACGGG (p.Asp3499GlufsTer7)
n.4425_4426insACGGG
c.10625_10626insACGGG (p.Asp3542GlufsTer7)
 dbSNP gnomAD v2
2g.73572499_73572500insACGGGTAGTATCA2533181878ALMS1c.10241_10242insACGGGTAGTAT (p.Asp3414GlufsTer9)
c.3327_3328insACGGGTAGTAT
c.7522_7523insACGGGTAGTAT
c.4688_4689insACGGGTAGTAT (p.Asp1563GlufsTer9)
c.7567_7568insACGGGTAGTAT
c.10622_10623insACGGGTAGTAT (p.Asp3541GlufsTer9)
c.776_777insACGGGTAGTAT (p.Asp259GlufsTer9)
c.1978_1979insACGGGTAGTAT
c.10_11insACGGGTAGTAT
c.1719_1720insACGGGTAGTAT
c.4113_4114insACGGGTAGTAT (n.4113_4114insACGGGTAGTAT)
c.10496_10497insACGGGTAGTAT (p.Asp3499GlufsTer9)
n.4425_4426insACGGGTAGTAT
c.10625_10626insACGGGTAGTAT (p.Asp3542GlufsTer9)
2g.73572499_73572500insACGGGTAGTATTCA1261021239ALMS1c.10241_10242insACGGGTAGTATT (p.Asp3414delinsGluArgValValPhe)
c.3327_3328insACGGGTAGTATT
c.7522_7523insACGGGTAGTATT
c.4688_4689insACGGGTAGTATT (p.Asp1563delinsGluArgValValPhe)
c.7567_7568insACGGGTAGTATT
c.10622_10623insACGGGTAGTATT (p.Asp3541delinsGluArgValValPhe)
c.776_777insACGGGTAGTATT (p.Asp259delinsGluArgValValPhe)
c.1978_1979insACGGGTAGTATT
c.10_11insACGGGTAGTATT
c.1719_1720insACGGGTAGTATT
c.4113_4114insACGGGTAGTATT (n.4113_4114insACGGGTAGTATT)
c.10496_10497insACGGGTAGTATT (p.Asp3499delinsGluArgValValPhe)
n.4425_4426insACGGGTAGTATT
c.10625_10626insACGGGTAGTATT (p.Asp3542delinsGluArgValValPhe)
 dbSNP
2g.73572500T>ACA347284249ALMS1c.10242T>A (p.Asp3414Glu)
c.3328T>A
c.7523T>A
c.4689T>A (p.Asp1563Glu)
c.7568T>A
c.10623T>A (p.Asp3541Glu)
c.777T>A (p.Asp259Glu)
c.1979T>A
c.11T>A
c.1720T>A
c.4114T>A (n.4114T>A)
c.10497T>A (p.Asp3499Glu)
n.4426T>A
c.10626T>A (p.Asp3542Glu)
2g.73572500T>CCA427024033ALMS1c.10242T>C (p.Asp3414=)
c.3328T>C
c.7523T>C
c.4689T>C (p.Asp1563=)
c.7568T>C
c.10623T>C (p.Asp3541=)
c.777T>C (p.Asp259=)
c.1979T>C
c.11T>C
c.1720T>C
c.4114T>C (n.4114T>C)
c.10497T>C (p.Asp3499=)
n.4426T>C
c.10626T>C (p.Asp3542=)
2g.73572500T>GCA347284253ALMS1c.10242T>G (p.Asp3414Glu)
c.3328T>G
c.7523T>G
c.4689T>G (p.Asp1563Glu)
c.7568T>G
c.10623T>G (p.Asp3541Glu)
c.777T>G (p.Asp259Glu)
c.1979T>G
c.11T>G
c.1720T>G
c.4114T>G (n.4114T>G)
c.10497T>G (p.Asp3499Glu)
n.4426T>G
c.10626T>G (p.Asp3542Glu)
2g.73572501T>ACA347284258ALMS1c.10243T>A (p.Tyr3415Asn)
c.3329T>A
c.7524T>A
c.4690T>A (p.Tyr1564Asn)
c.7569T>A
c.10624T>A (p.Tyr3542Asn)
c.778T>A (p.Tyr260Asn)
c.1980T>A
c.12T>A
c.1721T>A
c.4115T>A (n.4115T>A)
c.10498T>A (p.Tyr3500Asn)
n.4427T>A
c.10627T>A (p.Tyr3543Asn)
2g.73572501T>CCA347284261ALMS1c.10243T>C (p.Tyr3415His)
c.3329T>C
c.7524T>C
c.4690T>C (p.Tyr1564His)
c.7569T>C
c.10624T>C (p.Tyr3542His)
c.778T>C (p.Tyr260His)
c.1980T>C
c.12T>C
c.1721T>C
c.4115T>C (n.4115T>C)
c.10498T>C (p.Tyr3500His)
n.4427T>C
c.10627T>C (p.Tyr3543His)
2g.73572501T>GCA347284264ALMS1c.10243T>G (p.Tyr3415Asp)
c.3329T>G
c.7524T>G
c.4690T>G (p.Tyr1564Asp)
c.7569T>G
c.10624T>G (p.Tyr3542Asp)
c.778T>G (p.Tyr260Asp)
c.1980T>G
c.12T>G
c.1721T>G
c.4115T>G (n.4115T>G)
c.10498T>G (p.Tyr3500Asp)
n.4427T>G
c.10627T>G (p.Tyr3543Asp)
 gnomAD v4
2g.73572502A=CA1261021240ALMS1c.10244A= (p.Tyr3415=)
c.3330A=
c.7525A=
c.4691A= (p.Tyr1564=)
c.7570A=
c.10625A= (p.Tyr3542=)
c.779A= (p.Tyr260=)
c.1981A=
c.13A=
c.1722A=
c.4116A= (n.4116A=)
c.10499A= (p.Tyr3500=)
n.4428A=
c.10628A= (p.Tyr3543=)
2g.73572502A>CCA347284268ALMS1c.10244A>C (p.Tyr3415Ser)
c.3330A>C
c.7525A>C
c.4691A>C (p.Tyr1564Ser)
c.7570A>C
c.10625A>C (p.Tyr3542Ser)
c.779A>C (p.Tyr260Ser)
c.1981A>C
c.13A>C
c.1722A>C
c.4116A>C (n.4116A>C)
c.10499A>C (p.Tyr3500Ser)
n.4428A>C
c.10628A>C (p.Tyr3543Ser)
2g.73572502A>GCA1715036ALMS1c.10244A>G (p.Tyr3415Cys)
c.3330A>G
c.7525A>G
c.4691A>G (p.Tyr1564Cys)
c.7570A>G
c.10625A>G (p.Tyr3542Cys)
c.779A>G (p.Tyr260Cys)
c.1981A>G
c.13A>G
c.1722A>G
c.4116A>G (n.4116A>G)
c.10499A>G (p.Tyr3500Cys)
n.4428A>G
c.10628A>G (p.Tyr3543Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572502A>TCA347284273ALMS1c.10244A>T (p.Tyr3415Phe)
c.3330A>T
c.7525A>T
c.4691A>T (p.Tyr1564Phe)
c.7570A>T
c.10625A>T (p.Tyr3542Phe)
c.779A>T (p.Tyr260Phe)
c.1981A>T
c.13A>T
c.1722A>T
c.4116A>T (n.4116A>T)
c.10499A>T (p.Tyr3500Phe)
n.4428A>T
c.10628A>T (p.Tyr3543Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572503T>ACA347284278ALMS1c.10245T>A (p.Tyr3415Ter)
c.3331T>A
c.7526T>A
c.4692T>A (p.Tyr1564Ter)
c.7571T>A
c.10626T>A (p.Tyr3542Ter)
c.780T>A (p.Tyr260Ter)
c.1982T>A
c.14T>A
c.1723T>A
c.4117T>A (n.4117T>A)
c.10500T>A (p.Tyr3500Ter)
n.4429T>A
c.10629T>A (p.Tyr3543Ter)
2g.73572503T>CCA427024040ALMS1c.10245T>C (p.Tyr3415=)
c.3331T>C
c.7526T>C
c.4692T>C (p.Tyr1564=)
c.7571T>C
c.10626T>C (p.Tyr3542=)
c.780T>C (p.Tyr260=)
c.1982T>C
c.14T>C
c.1723T>C
c.4117T>C (n.4117T>C)
c.10500T>C (p.Tyr3500=)
n.4429T>C
c.10629T>C (p.Tyr3543=)
2g.73572503T>GCA347284281ALMS1c.10245T>G (p.Tyr3415Ter)
c.3331T>G
c.7526T>G
c.4692T>G (p.Tyr1564Ter)
c.7571T>G
c.10626T>G (p.Tyr3542Ter)
c.780T>G (p.Tyr260Ter)
c.1982T>G
c.14T>G
c.1723T>G
c.4117T>G (n.4117T>G)
c.10500T>G (p.Tyr3500Ter)
n.4429T>G
c.10629T>G (p.Tyr3543Ter)
2g.73572504A>CCA347284285ALMS1c.10246A>C (p.Thr3416Pro)
c.3332A>C
c.7527A>C
c.4693A>C (p.Thr1565Pro)
c.7572A>C
c.10627A>C (p.Thr3543Pro)
c.781A>C (p.Thr261Pro)
c.1983A>C
c.15A>C
c.1724A>C
c.4118A>C (n.4118A>C)
c.10501A>C (p.Thr3501Pro)
n.4430A>C
c.10630A>C (p.Thr3544Pro)
2g.73572504A>GCA347284287ALMS1c.10246A>G (p.Thr3416Ala)
c.3332A>G
c.7527A>G
c.4693A>G (p.Thr1565Ala)
c.7572A>G
c.10627A>G (p.Thr3543Ala)
c.781A>G (p.Thr261Ala)
c.1983A>G
c.15A>G
c.1724A>G
c.4118A>G (n.4118A>G)
c.10501A>G (p.Thr3501Ala)
n.4430A>G
c.10630A>G (p.Thr3544Ala)
 gnomAD v4
2g.73572504A>TCA347284290ALMS1c.10246A>T (p.Thr3416Ser)
c.3332A>T
c.7527A>T
c.4693A>T (p.Thr1565Ser)
c.7572A>T
c.10627A>T (p.Thr3543Ser)
c.781A>T (p.Thr261Ser)
c.1983A>T
c.15A>T
c.1724A>T
c.4118A>T (n.4118A>T)
c.10501A>T (p.Thr3501Ser)
n.4430A>T
c.10630A>T (p.Thr3544Ser)
2g.73572505C>ACA347284293ALMS1c.10247C>A (p.Thr3416Asn)
c.3333C>A
c.7528C>A
c.4694C>A (p.Thr1565Asn)
c.7573C>A
c.10628C>A (p.Thr3543Asn)
c.782C>A (p.Thr261Asn)
c.1984C>A
c.16C>A
c.1725C>A
c.4119C>A (n.4119C>A)
c.10502C>A (p.Thr3501Asn)
n.4431C>A
c.10631C>A (p.Thr3544Asn)
2g.73572505C=CA1261021241ALMS1c.10247C= (p.Thr3416=)
c.3333C=
c.7528C=
c.4694C= (p.Thr1565=)
c.7573C=
c.10628C= (p.Thr3543=)
c.782C= (p.Thr261=)
c.1984C=
c.16C=
c.1725C=
c.4119C= (n.4119C=)
c.10502C= (p.Thr3501=)
n.4431C=
c.10631C= (p.Thr3544=)
2g.73572505C>GCA349169ALMS1c.10247C>G (p.Thr3416Ser)
c.3333C>G
c.7528C>G
c.4694C>G (p.Thr1565Ser)
c.7573C>G
c.10628C>G (p.Thr3543Ser)
c.782C>G (p.Thr261Ser)
c.1984C>G
c.16C>G
c.1725C>G
c.4119C>G (n.4119C>G)
c.10502C>G (p.Thr3501Ser)
n.4431C>G
c.10631C>G (p.Thr3544Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572505C>TCA347284297ALMS1c.10247C>T (p.Thr3416Ile)
c.3333C>T
c.7528C>T
c.4694C>T (p.Thr1565Ile)
c.7573C>T
c.10628C>T (p.Thr3543Ile)
c.782C>T (p.Thr261Ile)
c.1984C>T
c.16C>T
c.1725C>T
c.4119C>T (n.4119C>T)
c.10502C>T (p.Thr3501Ile)
n.4431C>T
c.10631C>T (p.Thr3544Ile)
2g.73572506C>ACA427024046ALMS1c.10248C>A (p.Thr3416=)
c.3334C>A
c.7529C>A
c.4695C>A (p.Thr1565=)
c.7574C>A
c.10629C>A (p.Thr3543=)
c.783C>A (p.Thr261=)
c.1985C>A
c.17C>A
c.1726C>A
c.4120C>A (n.4120C>A)
c.10503C>A (p.Thr3501=)
n.4432C>A
c.10632C>A (p.Thr3544=)
2g.73572506C=CA1261021242ALMS1c.10248C= (p.Thr3416=)
c.3334C=
c.7529C=
c.4695C= (p.Thr1565=)
c.7574C=
c.10629C= (p.Thr3543=)
c.783C= (p.Thr261=)
c.1985C=
c.17C=
c.1726C=
c.4120C= (n.4120C=)
c.10503C= (p.Thr3501=)
n.4432C=
c.10632C= (p.Thr3544=)
2g.73572506C>GCA427024047ALMS1c.10248C>G (p.Thr3416=)
c.3334C>G
c.7529C>G
c.4695C>G (p.Thr1565=)
c.7574C>G
c.10629C>G (p.Thr3543=)
c.783C>G (p.Thr261=)
c.1985C>G
c.17C>G
c.1726C>G
c.4120C>G (n.4120C>G)
c.10503C>G (p.Thr3501=)
n.4432C>G
c.10632C>G (p.Thr3544=)
 ClinVar dbSNP gnomAD v4
2g.73572506C>TCA427024048ALMS1c.10248C>T (p.Thr3416=)
c.3334C>T
c.7529C>T
c.4695C>T (p.Thr1565=)
c.7574C>T
c.10629C>T (p.Thr3543=)
c.783C>T (p.Thr261=)
c.1985C>T
c.17C>T
c.1726C>T
c.4120C>T (n.4120C>T)
c.10503C>T (p.Thr3501=)
n.4432C>T
c.10632C>T (p.Thr3544=)
 gnomAD v4
2g.73572507A=CA1261021243ALMS1c.10249A= (p.Arg3417=)
c.3335A=
c.7530A=
c.4696A= (p.Arg1566=)
c.7575A=
c.10630A= (p.Arg3544=)
c.784A= (p.Arg262=)
c.1986A=
c.18A=
c.1727A=
c.4121A= (n.4121A=)
c.10504A= (p.Arg3502=)
n.4433A=
c.10633A= (p.Arg3545=)
2g.73572507A>CCA427024051ALMS1c.10249A>C (p.Arg3417=)
c.3335A>C
c.7530A>C
c.4696A>C (p.Arg1566=)
c.7575A>C
c.10630A>C (p.Arg3544=)
c.784A>C (p.Arg262=)
c.1986A>C
c.18A>C
c.1727A>C
c.4121A>C (n.4121A>C)
c.10504A>C (p.Arg3502=)
n.4433A>C
c.10633A>C (p.Arg3545=)
2g.73572507A>GCA1715037ALMS1c.10249A>G (p.Arg3417Gly)
c.3335A>G
c.7530A>G
c.4696A>G (p.Arg1566Gly)
c.7575A>G
c.10630A>G (p.Arg3544Gly)
c.784A>G (p.Arg262Gly)
c.1986A>G
c.18A>G
c.1727A>G
c.4121A>G (n.4121A>G)
c.10504A>G (p.Arg3502Gly)
n.4433A>G
c.10633A>G (p.Arg3545Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572507A>TCA347284304ALMS1c.10249A>T (p.Arg3417Ter)
c.3335A>T
c.7530A>T
c.4696A>T (p.Arg1566Ter)
c.7575A>T
c.10630A>T (p.Arg3544Ter)
c.784A>T (p.Arg262Ter)
c.1986A>T
c.18A>T
c.1727A>T
c.4121A>T (n.4121A>T)
c.10504A>T (p.Arg3502Ter)
n.4433A>T
c.10633A>T (p.Arg3545Ter)
2g.73572508G>ACA347284309ALMS1c.10250G>A (p.Arg3417Lys)
c.3336G>A
c.7531G>A
c.4697G>A (p.Arg1566Lys)
c.7576G>A
c.10631G>A (p.Arg3544Lys)
c.785G>A (p.Arg262Lys)
c.1987G>A
c.19G>A
c.1728G>A
c.4122G>A (n.4122G>A)
c.10505G>A (p.Arg3502Lys)
n.4434G>A
c.10634G>A (p.Arg3545Lys)
2g.73572508G>CCA347284311ALMS1c.10250G>C (p.Arg3417Thr)
c.3336G>C
c.7531G>C
c.4697G>C (p.Arg1566Thr)
c.7576G>C
c.10631G>C (p.Arg3544Thr)
c.785G>C (p.Arg262Thr)
c.1987G>C
c.19G>C
c.1728G>C
c.4122G>C (n.4122G>C)
c.10505G>C (p.Arg3502Thr)
n.4434G>C
c.10634G>C (p.Arg3545Thr)
2g.73572508G>TCA347284322ALMS1c.10250G>T (p.Arg3417Ile)
c.3336G>T
c.7531G>T
c.4697G>T (p.Arg1566Ile)
c.7576G>T
c.10631G>T (p.Arg3544Ile)
c.785G>T (p.Arg262Ile)
c.1987G>T
c.19G>T
c.1728G>T
c.4122G>T (n.4122G>T)
c.10505G>T (p.Arg3502Ile)
n.4434G>T
c.10634G>T (p.Arg3545Ile)
2g.73572509A>CCA347284324ALMS1c.10251A>C (p.Arg3417Ser)
c.3337A>C
c.7532A>C
c.4698A>C (p.Arg1566Ser)
c.7577A>C
c.10632A>C (p.Arg3544Ser)
c.786A>C (p.Arg262Ser)
c.1988A>C
c.20A>C
c.1729A>C
c.4123A>C (n.4123A>C)
c.10506A>C (p.Arg3502Ser)
n.4435A>C
c.10635A>C (p.Arg3545Ser)
2g.73572509A>GCA427024056ALMS1c.10251A>G (p.Arg3417=)
c.3337A>G
c.7532A>G
c.4698A>G (p.Arg1566=)
c.7577A>G
c.10632A>G (p.Arg3544=)
c.786A>G (p.Arg262=)
c.1988A>G
c.20A>G
c.1729A>G
c.4123A>G (n.4123A>G)
c.10506A>G (p.Arg3502=)
n.4435A>G
c.10635A>G (p.Arg3545=)
 ClinVar
2g.73572509A>TCA347284326ALMS1c.10251A>T (p.Arg3417Ser)
c.3337A>T
c.7532A>T
c.4698A>T (p.Arg1566Ser)
c.7577A>T
c.10632A>T (p.Arg3544Ser)
c.786A>T (p.Arg262Ser)
c.1988A>T
c.20A>T
c.1729A>T
c.4123A>T (n.4123A>T)
c.10506A>T (p.Arg3502Ser)
n.4435A>T
c.10635A>T (p.Arg3545Ser)
2g.73572510A>CCA347284329ALMS1c.10252A>C (p.Ile3418Leu)
c.3338A>C
c.7533A>C
c.4699A>C (p.Ile1567Leu)
c.7578A>C
c.10633A>C (p.Ile3545Leu)
c.787A>C (p.Ile263Leu)
c.1989A>C
c.21A>C
c.1730A>C
c.4124A>C (n.4124A>C)
c.10507A>C (p.Ile3503Leu)
n.4436A>C
c.10636A>C (p.Ile3546Leu)
2g.73572510A>GCA347284332ALMS1c.10252A>G (p.Ile3418Val)
c.3338A>G
c.7533A>G
c.4699A>G (p.Ile1567Val)
c.7578A>G
c.10633A>G (p.Ile3545Val)
c.787A>G (p.Ile263Val)
c.1989A>G
c.21A>G
c.1730A>G
c.4124A>G (n.4124A>G)
c.10507A>G (p.Ile3503Val)
n.4436A>G
c.10636A>G (p.Ile3546Val)
2g.73572510A>TCA347284336ALMS1c.10252A>T (p.Ile3418Leu)
c.3338A>T
c.7533A>T
c.4699A>T (p.Ile1567Leu)
c.7578A>T
c.10633A>T (p.Ile3545Leu)
c.787A>T (p.Ile263Leu)
c.1989A>T
c.21A>T
c.1730A>T
c.4124A>T (n.4124A>T)
c.10507A>T (p.Ile3503Leu)
n.4436A>T
c.10636A>T (p.Ile3546Leu)
2g.73572511T>ACA347284358ALMS1c.10253T>A (p.Ile3418Lys)
c.3339T>A
c.7534T>A
c.4700T>A (p.Ile1567Lys)
c.7579T>A
c.10634T>A (p.Ile3545Lys)
c.788T>A (p.Ile263Lys)
c.1990T>A
c.22T>A
c.1731T>A
c.4125T>A (n.4125T>A)
c.10508T>A (p.Ile3503Lys)
n.4437T>A
c.10637T>A (p.Ile3546Lys)
2g.73572511T>CCA347284354ALMS1c.10253T>C (p.Ile3418Thr)
c.3339T>C
c.7534T>C
c.4700T>C (p.Ile1567Thr)
c.7579T>C
c.10634T>C (p.Ile3545Thr)
c.788T>C (p.Ile263Thr)
c.1990T>C
c.22T>C
c.1731T>C
c.4125T>C (n.4125T>C)
c.10508T>C (p.Ile3503Thr)
n.4437T>C
c.10637T>C (p.Ile3546Thr)
2g.73572511T>GCA347284340ALMS1c.10253T>G (p.Ile3418Arg)
c.3339T>G
c.7534T>G
c.4700T>G (p.Ile1567Arg)
c.7579T>G
c.10634T>G (p.Ile3545Arg)
c.788T>G (p.Ile263Arg)
c.1990T>G
c.22T>G
c.1731T>G
c.4125T>G (n.4125T>G)
c.10508T>G (p.Ile3503Arg)
n.4437T>G
c.10637T>G (p.Ile3546Arg)
2g.73572512A=CA1261021244ALMS1c.10254A= (p.Ile3418=)
c.3340A=
c.7535A=
c.4701A= (p.Ile1567=)
c.7580A=
c.10635A= (p.Ile3545=)
c.789A= (p.Ile263=)
c.1991A=
c.23A=
c.1732A=
c.4126A= (n.4126A=)
c.10509A= (p.Ile3503=)
n.4438A=
c.10638A= (p.Ile3546=)
2g.73572512A>CCA427024059ALMS1c.10254A>C (p.Ile3418=)
c.3340A>C
c.7535A>C
c.4701A>C (p.Ile1567=)
c.7580A>C
c.10635A>C (p.Ile3545=)
c.789A>C (p.Ile263=)
c.1991A>C
c.23A>C
c.1732A>C
c.4126A>C (n.4126A>C)
c.10509A>C (p.Ile3503=)
n.4438A>C
c.10638A>C (p.Ile3546=)
2g.73572512A>GCA1715038ALMS1c.10254A>G (p.Ile3418Met)
c.3340A>G
c.7535A>G
c.4701A>G (p.Ile1567Met)
c.7580A>G
c.10635A>G (p.Ile3545Met)
c.789A>G (p.Ile263Met)
c.1991A>G
c.23A>G
c.1732A>G
c.4126A>G (n.4126A>G)
c.10509A>G (p.Ile3503Met)
n.4438A>G
c.10638A>G (p.Ile3546Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572512A>TCA427024062ALMS1c.10254A>T (p.Ile3418=)
c.3340A>T
c.7535A>T
c.4701A>T (p.Ile1567=)
c.7580A>T
c.10635A>T (p.Ile3545=)
c.789A>T (p.Ile263=)
c.1991A>T
c.23A>T
c.1732A>T
c.4126A>T (n.4126A>T)
c.10509A>T (p.Ile3503=)
n.4438A>T
c.10638A>T (p.Ile3546=)
2g.73572513A=CA1261021245ALMS1c.10255A= (p.Lys3419=)
c.3341A=
c.7536A=
c.4702A= (p.Lys1568=)
c.7581A=
c.10636A= (p.Lys3546=)
c.790A= (p.Lys264=)
c.1992A=
c.24A=
c.1733A=
c.4127A= (n.4127A=)
c.10510A= (p.Lys3504=)
n.4439A=
c.10639A= (p.Lys3547=)
2g.73572513A>CCA347284365ALMS1c.10255A>C (p.Lys3419Gln)
c.3341A>C
c.7536A>C
c.4702A>C (p.Lys1568Gln)
c.7581A>C
c.10636A>C (p.Lys3546Gln)
c.790A>C (p.Lys264Gln)
c.1992A>C
c.24A>C
c.1733A>C
c.4127A>C (n.4127A>C)
c.10510A>C (p.Lys3504Gln)
n.4439A>C
c.10639A>C (p.Lys3547Gln)
2g.73572513A>GCA347284368ALMS1c.10255A>G (p.Lys3419Glu)
c.3341A>G
c.7536A>G
c.4702A>G (p.Lys1568Glu)
c.7581A>G
c.10636A>G (p.Lys3546Glu)
c.790A>G (p.Lys264Glu)
c.1992A>G
c.24A>G
c.1733A>G
c.4127A>G (n.4127A>G)
c.10510A>G (p.Lys3504Glu)
n.4439A>G
c.10639A>G (p.Lys3547Glu)
 dbSNP
2g.73572513A>TCA347284370ALMS1c.10255A>T (p.Lys3419Ter)
c.3341A>T
c.7536A>T
c.4702A>T (p.Lys1568Ter)
c.7581A>T
c.10636A>T (p.Lys3546Ter)
c.790A>T (p.Lys264Ter)
c.1992A>T
c.24A>T
c.1733A>T
c.4127A>T (n.4127A>T)
c.10510A>T (p.Lys3504Ter)
n.4439A>T
c.10639A>T (p.Lys3547Ter)
2g.73572514A>CCA347284375ALMS1c.10256A>C (p.Lys3419Thr)
c.3342A>C
c.7537A>C
c.4703A>C (p.Lys1568Thr)
c.7582A>C
c.10637A>C (p.Lys3546Thr)
c.791A>C (p.Lys264Thr)
c.1993A>C
c.25A>C
c.1734A>C
c.4128A>C (n.4128A>C)
c.10511A>C (p.Lys3504Thr)
n.4440A>C
c.10640A>C (p.Lys3547Thr)
2g.73572514A>GCA347284379ALMS1c.10256A>G (p.Lys3419Arg)
c.3342A>G
c.7537A>G
c.4703A>G (p.Lys1568Arg)
c.7582A>G
c.10637A>G (p.Lys3546Arg)
c.791A>G (p.Lys264Arg)
c.1993A>G
c.25A>G
c.1734A>G
c.4128A>G (n.4128A>G)
c.10511A>G (p.Lys3504Arg)
n.4440A>G
c.10640A>G (p.Lys3547Arg)
2g.73572514A>TCA347284382ALMS1c.10256A>T (p.Lys3419Met)
c.3342A>T
c.7537A>T
c.4703A>T (p.Lys1568Met)
c.7582A>T
c.10637A>T (p.Lys3546Met)
c.791A>T (p.Lys264Met)
c.1993A>T
c.25A>T
c.1734A>T
c.4128A>T (n.4128A>T)
c.10511A>T (p.Lys3504Met)
n.4440A>T
c.10640A>T (p.Lys3547Met)
2g.73572515G>ACA427024068ALMS1c.10257G>A (p.Lys3419=)
c.3343G>A
c.7538G>A
c.4704G>A (p.Lys1568=)
c.7583G>A
c.10638G>A (p.Lys3546=)
c.792G>A (p.Lys264=)
c.1994G>A
c.26G>A
c.1735G>A
c.4129G>A (n.4129G>A)
c.10512G>A (p.Lys3504=)
n.4441G>A
c.10641G>A (p.Lys3547=)
 gnomAD v4
2g.73572515G>CCA347284389ALMS1c.10257G>C (p.Lys3419Asn)
c.3343G>C
c.7538G>C
c.4704G>C (p.Lys1568Asn)
c.7583G>C
c.10638G>C (p.Lys3546Asn)
c.792G>C (p.Lys264Asn)
c.1994G>C
c.26G>C
c.1735G>C
c.4129G>C (n.4129G>C)
c.10512G>C (p.Lys3504Asn)
n.4441G>C
c.10641G>C (p.Lys3547Asn)
 gnomAD v4
2g.73572515G>TCA347284393ALMS1c.10257G>T (p.Lys3419Asn)
c.3343G>T
c.7538G>T
c.4704G>T (p.Lys1568Asn)
c.7583G>T
c.10638G>T (p.Lys3546Asn)
c.792G>T (p.Lys264Asn)
c.1994G>T
c.26G>T
c.1735G>T
c.4129G>T (n.4129G>T)
c.10512G>T (p.Lys3504Asn)
n.4441G>T
c.10641G>T (p.Lys3547Asn)
2g.73572516A=CA1261021246ALMS1c.10258A= (p.Ser3420=)
c.3344A=
c.7539A=
c.4705A= (p.Ser1569=)
c.7584A=
c.10639A= (p.Ser3547=)
c.793A= (p.Ser265=)
c.1995A=
c.27A=
c.1736A=
c.4130A= (n.4130A=)
c.10513A= (p.Ser3505=)
n.4442A=
c.10642A= (p.Ser3548=)
2g.73572516A>CCA347284398ALMS1c.10258A>C (p.Ser3420Arg)
c.3344A>C
c.7539A>C
c.4705A>C (p.Ser1569Arg)
c.7584A>C
c.10639A>C (p.Ser3547Arg)
c.793A>C (p.Ser265Arg)
c.1995A>C
c.27A>C
c.1736A>C
c.4130A>C (n.4130A>C)
c.10513A>C (p.Ser3505Arg)
n.4442A>C
c.10642A>C (p.Ser3548Arg)
2g.73572516A>GCA347284401ALMS1c.10258A>G (p.Ser3420Gly)
c.3344A>G
c.7539A>G
c.4705A>G (p.Ser1569Gly)
c.7584A>G
c.10639A>G (p.Ser3547Gly)
c.793A>G (p.Ser265Gly)
c.1995A>G
c.27A>G
c.1736A>G
c.4130A>G (n.4130A>G)
c.10513A>G (p.Ser3505Gly)
n.4442A>G
c.10642A>G (p.Ser3548Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.73572516A>TCA347284404ALMS1c.10258A>T (p.Ser3420Cys)
c.3344A>T
c.7539A>T
c.4705A>T (p.Ser1569Cys)
c.7584A>T
c.10639A>T (p.Ser3547Cys)
c.793A>T (p.Ser265Cys)
c.1995A>T
c.27A>T
c.1736A>T
c.4130A>T (n.4130A>T)
c.10513A>T (p.Ser3505Cys)
n.4442A>T
c.10642A>T (p.Ser3548Cys)
2g.73572517G>ACA347284413ALMS1c.10259G>A (p.Ser3420Asn)
c.3345G>A
c.7540G>A
c.4706G>A (p.Ser1569Asn)
c.7585G>A
c.10640G>A (p.Ser3547Asn)
c.794G>A (p.Ser265Asn)
c.1996G>A
c.28G>A
c.1737G>A
c.4131G>A (n.4131G>A)
c.10514G>A (p.Ser3505Asn)
n.4443G>A
c.10643G>A (p.Ser3548Asn)
2g.73572517G>CCA347284416ALMS1c.10259G>C (p.Ser3420Thr)
c.3345G>C
c.7540G>C
c.4706G>C (p.Ser1569Thr)
c.7585G>C
c.10640G>C (p.Ser3547Thr)
c.794G>C (p.Ser265Thr)
c.1996G>C
c.28G>C
c.1737G>C
c.4131G>C (n.4131G>C)
c.10514G>C (p.Ser3505Thr)
n.4443G>C
c.10643G>C (p.Ser3548Thr)
2g.73572517G>TCA347284410ALMS1c.10259G>T (p.Ser3420Ile)
c.3345G>T
c.7540G>T
c.4706G>T (p.Ser1569Ile)
c.7585G>T
c.10640G>T (p.Ser3547Ile)
c.794G>T (p.Ser265Ile)
c.1996G>T
c.28G>T
c.1737G>T
c.4131G>T (n.4131G>T)
c.10514G>T (p.Ser3505Ile)
n.4443G>T
c.10643G>T (p.Ser3548Ile)
2g.73572518C>ACA347284418ALMS1c.10260C>A (p.Ser3420Arg)
c.3346C>A
c.7541C>A
c.4707C>A (p.Ser1569Arg)
c.7586C>A
c.10641C>A (p.Ser3547Arg)
c.795C>A (p.Ser265Arg)
c.1997C>A
c.29C>A
c.1738C>A
c.4132C>A (n.4132C>A)
c.10515C>A (p.Ser3505Arg)
n.4444C>A
c.10644C>A (p.Ser3548Arg)
2g.73572518C=CA1261021247ALMS1c.10260C= (p.Ser3420=)
c.3346C=
c.7541C=
c.4707C= (p.Ser1569=)
c.7586C=
c.10641C= (p.Ser3547=)
c.795C= (p.Ser265=)
c.1997C=
c.29C=
c.1738C=
c.4132C= (n.4132C=)
c.10515C= (p.Ser3505=)
n.4444C=
c.10644C= (p.Ser3548=)
2g.73572518C>GCA347284419ALMS1c.10260C>G (p.Ser3420Arg)
c.3346C>G
c.7541C>G
c.4707C>G (p.Ser1569Arg)
c.7586C>G
c.10641C>G (p.Ser3547Arg)
c.795C>G (p.Ser265Arg)
c.1997C>G
c.29C>G
c.1738C>G
c.4132C>G (n.4132C>G)
c.10515C>G (p.Ser3505Arg)
n.4444C>G
c.10644C>G (p.Ser3548Arg)
 ClinVar dbSNP gnomAD v4
2g.73572518C>TCA50386318ALMS1c.10260C>T (p.Ser3420=)
c.3346C>T
c.7541C>T
c.4707C>T (p.Ser1569=)
c.7586C>T
c.10641C>T (p.Ser3547=)
c.795C>T (p.Ser265=)
c.1997C>T
c.29C>T
c.1738C>T
c.4132C>T (n.4132C>T)
c.10515C>T (p.Ser3505=)
n.4444C>T
c.10644C>T (p.Ser3548=)
 ClinVar dbSNP gnomAD v4
2g.73572519C>ACA347284425ALMS1c.10261C>A (p.Leu3421Ile)
c.3347C>A
c.7542C>A
c.4708C>A (p.Leu1570Ile)
c.7587C>A
c.10642C>A (p.Leu3548Ile)
c.796C>A (p.Leu266Ile)
c.1998C>A
c.30C>A
c.1739C>A
c.4133C>A (n.4133C>A)
c.10516C>A (p.Leu3506Ile)
n.4445C>A
c.10645C>A (p.Leu3549Ile)
2g.73572519C=CA1261021248ALMS1c.10261C= (p.Leu3421=)
c.3347C=
c.7542C=
c.4708C= (p.Leu1570=)
c.7587C=
c.10642C= (p.Leu3548=)
c.796C= (p.Leu266=)
c.1998C=
c.30C=
c.1739C=
c.4133C= (n.4133C=)
c.10516C= (p.Leu3506=)
n.4445C=
c.10645C= (p.Leu3549=)
2g.73572519C>GCA347284428ALMS1c.10261C>G (p.Leu3421Val)
c.3347C>G
c.7542C>G
c.4708C>G (p.Leu1570Val)
c.7587C>G
c.10642C>G (p.Leu3548Val)
c.796C>G (p.Leu266Val)
c.1998C>G
c.30C>G
c.1739C>G
c.4133C>G (n.4133C>G)
c.10516C>G (p.Leu3506Val)
n.4445C>G
c.10645C>G (p.Leu3549Val)
2g.73572519C>TCA50386332ALMS1c.10261C>T (p.Leu3421Phe)
c.3347C>T
c.7542C>T
c.4708C>T (p.Leu1570Phe)
c.7587C>T
c.10642C>T (p.Leu3548Phe)
c.796C>T (p.Leu266Phe)
c.1998C>T
c.30C>T
c.1739C>T
c.4133C>T (n.4133C>T)
c.10516C>T (p.Leu3506Phe)
n.4445C>T
c.10645C>T (p.Leu3549Phe)
 dbSNP gnomAD v4
2g.73572520T>ACA347284441ALMS1c.10262T>A (p.Leu3421His)
c.3348T>A
c.7543T>A
c.4709T>A (p.Leu1570His)
c.7588T>A
c.10643T>A (p.Leu3548His)
c.797T>A (p.Leu266His)
c.1999T>A
c.31T>A
c.1740T>A
c.4134T>A (n.4134T>A)
c.10517T>A (p.Leu3506His)
n.4446T>A
c.10646T>A (p.Leu3549His)
 ClinVar dbSNP
2g.73572520T>CCA347284435ALMS1c.10262T>C (p.Leu3421Pro)
c.3348T>C
c.7543T>C
c.4709T>C (p.Leu1570Pro)
c.7588T>C
c.10643T>C (p.Leu3548Pro)
c.797T>C (p.Leu266Pro)
c.1999T>C
c.31T>C
c.1740T>C
c.4134T>C (n.4134T>C)
c.10517T>C (p.Leu3506Pro)
n.4446T>C
c.10646T>C (p.Leu3549Pro)
2g.73572520T>GCA347284439ALMS1c.10262T>G (p.Leu3421Arg)
c.3348T>G
c.7543T>G
c.4709T>G (p.Leu1570Arg)
c.7588T>G
c.10643T>G (p.Leu3548Arg)
c.797T>G (p.Leu266Arg)
c.1999T>G
c.31T>G
c.1740T>G
c.4134T>G (n.4134T>G)
c.10517T>G (p.Leu3506Arg)
n.4446T>G
c.10646T>G (p.Leu3549Arg)
2g.73572520T=CA1261021249ALMS1c.10262T= (p.Leu3421=)
c.3348T=
c.7543T=
c.4709T= (p.Leu1570=)
c.7588T=
c.10643T= (p.Leu3548=)
c.797T= (p.Leu266=)
c.1999T=
c.31T=
c.1740T=
c.4134T= (n.4134T=)
c.10517T= (p.Leu3506=)
n.4446T=
c.10646T= (p.Leu3549=)
2g.73572521C>ACA427024074ALMS1c.10263C>A (p.Leu3421=)
c.3349C>A
c.7544C>A
c.4710C>A (p.Leu1570=)
c.7589C>A
c.10644C>A (p.Leu3548=)
c.798C>A (p.Leu266=)
c.2000C>A
c.32C>A
c.1741C>A
c.4135C>A (n.4135C>A)
c.10518C>A (p.Leu3506=)
n.4447C>A
c.10647C>A (p.Leu3549=)
2g.73572521C=CA1261021250ALMS1c.10263C= (p.Leu3421=)
c.3349C=
c.7544C=
c.4710C= (p.Leu1570=)
c.7589C=
c.10644C= (p.Leu3548=)
c.798C= (p.Leu266=)
c.2000C=
c.32C=
c.1741C=
c.4135C= (n.4135C=)
c.10518C= (p.Leu3506=)
n.4447C=
c.10647C= (p.Leu3549=)
2g.73572521C>GCA427024075ALMS1c.10263C>G (p.Leu3421=)
c.3349C>G
c.7544C>G
c.4710C>G (p.Leu1570=)
c.7589C>G
c.10644C>G (p.Leu3548=)
c.798C>G (p.Leu266=)
c.2000C>G
c.32C>G
c.1741C>G
c.4135C>G (n.4135C>G)
c.10518C>G (p.Leu3506=)
n.4447C>G
c.10647C>G (p.Leu3549=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572521C>TCA427024076ALMS1c.10263C>T (p.Leu3421=)
c.3349C>T
c.7544C>T
c.4710C>T (p.Leu1570=)
c.7589C>T
c.10644C>T (p.Leu3548=)
c.798C>T (p.Leu266=)
c.2000C>T
c.32C>T
c.1741C>T
c.4135C>T (n.4135C>T)
c.10518C>T (p.Leu3506=)
n.4447C>T
c.10647C>T (p.Leu3549=)
2g.73572522A>CCA347284444ALMS1c.10264A>C (p.Ser3422Arg)
c.3350A>C
c.7545A>C
c.4711A>C (p.Ser1571Arg)
c.7590A>C
c.10645A>C (p.Ser3549Arg)
c.799A>C (p.Ser267Arg)
c.2001A>C
c.33A>C
c.1742A>C
c.4136A>C (n.4136A>C)
c.10519A>C (p.Ser3507Arg)
n.4448A>C
c.10648A>C (p.Ser3550Arg)
2g.73572522A>GCA347284446ALMS1c.10264A>G (p.Ser3422Gly)
c.3350A>G
c.7545A>G
c.4711A>G (p.Ser1571Gly)
c.7590A>G
c.10645A>G (p.Ser3549Gly)
c.799A>G (p.Ser267Gly)
c.2001A>G
c.33A>G
c.1742A>G
c.4136A>G (n.4136A>G)
c.10519A>G (p.Ser3507Gly)
n.4448A>G
c.10648A>G (p.Ser3550Gly)
2g.73572522A>TCA347284448ALMS1c.10264A>T (p.Ser3422Cys)
c.3350A>T
c.7545A>T
c.4711A>T (p.Ser1571Cys)
c.7590A>T
c.10645A>T (p.Ser3549Cys)
c.799A>T (p.Ser267Cys)
c.2001A>T
c.33A>T
c.1742A>T
c.4136A>T (n.4136A>T)
c.10519A>T (p.Ser3507Cys)
n.4448A>T
c.10648A>T (p.Ser3550Cys)
2g.73572523G>ACA347284451ALMS1c.10265G>A (p.Ser3422Asn)
c.3351G>A
c.7546G>A
c.4712G>A (p.Ser1571Asn)
c.7591G>A
c.10646G>A (p.Ser3549Asn)
c.800G>A (p.Ser267Asn)
c.2002G>A
c.34G>A
c.1743G>A
c.4137G>A (n.4137G>A)
c.10520G>A (p.Ser3507Asn)
n.4449G>A
c.10649G>A (p.Ser3550Asn)
2g.73572523G>CCA347284453ALMS1c.10265G>C (p.Ser3422Thr)
c.3351G>C
c.7546G>C
c.4712G>C (p.Ser1571Thr)
c.7591G>C
c.10646G>C (p.Ser3549Thr)
c.800G>C (p.Ser267Thr)
c.2002G>C
c.34G>C
c.1743G>C
c.4137G>C (n.4137G>C)
c.10520G>C (p.Ser3507Thr)
n.4449G>C
c.10649G>C (p.Ser3550Thr)
2g.73572523G>TCA347284456ALMS1c.10265G>T (p.Ser3422Ile)
c.3351G>T
c.7546G>T
c.4712G>T (p.Ser1571Ile)
c.7591G>T
c.10646G>T (p.Ser3549Ile)
c.800G>T (p.Ser267Ile)
c.2002G>T
c.34G>T
c.1743G>T
c.4137G>T (n.4137G>T)
c.10520G>T (p.Ser3507Ile)
n.4449G>T
c.10649G>T (p.Ser3550Ile)
2g.73572524C>ACA347284461ALMS1c.10266C>A (p.Ser3422Arg)
c.3352C>A
c.7547C>A
c.4713C>A (p.Ser1571Arg)
c.7592C>A
c.10647C>A (p.Ser3549Arg)
c.801C>A (p.Ser267Arg)
c.2003C>A
c.35C>A
c.1744C>A
c.4138C>A (n.4138C>A)
c.10521C>A (p.Ser3507Arg)
n.4450C>A
c.10650C>A (p.Ser3550Arg)
2g.73572524C=CA1261021252ALMS1c.10266C= (p.Ser3422=)
c.3352C=
c.7547C=
c.4713C= (p.Ser1571=)
c.7592C=
c.10647C= (p.Ser3549=)
c.801C= (p.Ser267=)
c.2003C=
c.35C=
c.1744C=
c.4138C= (n.4138C=)
c.10521C= (p.Ser3507=)
n.4450C=
c.10650C= (p.Ser3550=)
2g.73572524C>GCA347284463ALMS1c.10266C>G (p.Ser3422Arg)
c.3352C>G
c.7547C>G
c.4713C>G (p.Ser1571Arg)
c.7592C>G
c.10647C>G (p.Ser3549Arg)
c.801C>G (p.Ser267Arg)
c.2003C>G
c.35C>G
c.1744C>G
c.4138C>G (n.4138C>G)
c.10521C>G (p.Ser3507Arg)
n.4450C>G
c.10650C>G (p.Ser3550Arg)
2g.73572524C>TCA50386340ALMS1c.10266C>T (p.Ser3422=)
c.3352C>T
c.7547C>T
c.4713C>T (p.Ser1571=)
c.7592C>T
c.10647C>T (p.Ser3549=)
c.801C>T (p.Ser267=)
c.2003C>T
c.35C>T
c.1744C>T
c.4138C>T (n.4138C>T)
c.10521C>T (p.Ser3507=)
n.4450C>T
c.10650C>T (p.Ser3550=)
 dbSNP gnomAD v3 gnomAD v4
2g.73572525A=CA1261021254ALMS1c.10267A= (p.Ile3423=)
c.3353A=
c.7548A=
c.4714A= (p.Ile1572=)
c.7593A=
c.10648A= (p.Ile3550=)
c.802A= (p.Ile268=)
c.2004A=
c.36A=
c.1745A=
c.4139A= (n.4139A=)
c.10522A= (p.Ile3508=)
n.4451A=
c.10651A= (p.Ile3551=)
2g.73572525A>CCA1715039ALMS1c.10267A>C (p.Ile3423Leu)
c.3353A>C
c.7548A>C
c.4714A>C (p.Ile1572Leu)
c.7593A>C
c.10648A>C (p.Ile3550Leu)
c.802A>C (p.Ile268Leu)
c.2004A>C
c.36A>C
c.1745A>C
c.4139A>C (n.4139A>C)
c.10522A>C (p.Ile3508Leu)
n.4451A>C
c.10651A>C (p.Ile3551Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572525A>GCA347284474ALMS1c.10267A>G (p.Ile3423Val)
c.3353A>G
c.7548A>G
c.4714A>G (p.Ile1572Val)
c.7593A>G
c.10648A>G (p.Ile3550Val)
c.802A>G (p.Ile268Val)
c.2004A>G
c.36A>G
c.1745A>G
c.4139A>G (n.4139A>G)
c.10522A>G (p.Ile3508Val)
n.4451A>G
c.10651A>G (p.Ile3551Val)
 dbSNP gnomAD v4
2g.73572525A>TCA347284470ALMS1c.10267A>T (p.Ile3423Phe)
c.3353A>T
c.7548A>T
c.4714A>T (p.Ile1572Phe)
c.7593A>T
c.10648A>T (p.Ile3550Phe)
c.802A>T (p.Ile268Phe)
c.2004A>T
c.36A>T
c.1745A>T
c.4139A>T (n.4139A>T)
c.10522A>T (p.Ile3508Phe)
n.4451A>T
c.10651A>T (p.Ile3551Phe)
2g.73572526T>ACA347284481ALMS1c.10268T>A (p.Ile3423Asn)
c.3354T>A
c.7549T>A
c.4715T>A (p.Ile1572Asn)
c.7594T>A
c.10649T>A (p.Ile3550Asn)
c.803T>A (p.Ile268Asn)
c.2005T>A
c.37T>A
c.1746T>A
c.4140T>A (n.4140T>A)
c.10523T>A (p.Ile3508Asn)
n.4452T>A
c.10652T>A (p.Ile3551Asn)
2g.73572526T>CCA347284490ALMS1c.10268T>C (p.Ile3423Thr)
c.3354T>C
c.7549T>C
c.4715T>C (p.Ile1572Thr)
c.7594T>C
c.10649T>C (p.Ile3550Thr)
c.803T>C (p.Ile268Thr)
c.2005T>C
c.37T>C
c.1746T>C
c.4140T>C (n.4140T>C)
c.10523T>C (p.Ile3508Thr)
n.4452T>C
c.10652T>C (p.Ile3551Thr)
2g.73572526T>GCA347284486ALMS1c.10268T>G (p.Ile3423Ser)
c.3354T>G
c.7549T>G
c.4715T>G (p.Ile1572Ser)
c.7594T>G
c.10649T>G (p.Ile3550Ser)
c.803T>G (p.Ile268Ser)
c.2005T>G
c.37T>G
c.1746T>G
c.4140T>G (n.4140T>G)
c.10523T>G (p.Ile3508Ser)
n.4452T>G
c.10652T>G (p.Ile3551Ser)
2g.73572527C>ACA427024089ALMS1c.10269C>A (p.Ile3423=)
c.3355C>A
c.7550C>A
c.4716C>A (p.Ile1572=)
c.7595C>A
c.10650C>A (p.Ile3550=)
c.804C>A (p.Ile268=)
c.2006C>A
c.38C>A
c.1747C>A
c.4141C>A (n.4141C>A)
c.10524C>A (p.Ile3508=)
n.4453C>A
c.10653C>A (p.Ile3551=)
 dbSNP
2g.73572527C=CA1261021255ALMS1c.10269C= (p.Ile3423=)
c.3355C=
c.7550C=
c.4716C= (p.Ile1572=)
c.7595C=
c.10650C= (p.Ile3550=)
c.804C= (p.Ile268=)
c.2006C=
c.38C=
c.1747C=
c.4141C= (n.4141C=)
c.10524C= (p.Ile3508=)
n.4453C=
c.10653C= (p.Ile3551=)
2g.73572527C>GCA347284494ALMS1c.10269C>G (p.Ile3423Met)
c.3355C>G
c.7550C>G
c.4716C>G (p.Ile1572Met)
c.7595C>G
c.10650C>G (p.Ile3550Met)
c.804C>G (p.Ile268Met)
c.2006C>G
c.38C>G
c.1747C>G
c.4141C>G (n.4141C>G)
c.10524C>G (p.Ile3508Met)
n.4453C>G
c.10653C>G (p.Ile3551Met)
2g.73572527C>TCA427024090ALMS1c.10269C>T (p.Ile3423=)
c.3355C>T
c.7550C>T
c.4716C>T (p.Ile1572=)
c.7595C>T
c.10650C>T (p.Ile3550=)
c.804C>T (p.Ile268=)
c.2006C>T
c.38C>T
c.1747C>T
c.4141C>T (n.4141C>T)
c.10524C>T (p.Ile3508=)
n.4453C>T
c.10653C>T (p.Ile3551=)
 dbSNP
2g.73572528A=CA1261021256ALMS1c.10270A= (p.Asn3424=)
c.3356A=
c.7551A=
c.4717A= (p.Asn1573=)
c.7596A=
c.10651A= (p.Asn3551=)
c.805A= (p.Asn269=)
c.2007A=
c.39A=
c.1748A=
c.4142A= (n.4142A=)
c.10525A= (p.Asn3509=)
n.4454A=
c.10654A= (p.Asn3552=)
2g.73572528A>CCA347284505ALMS1c.10270A>C (p.Asn3424His)
c.3356A>C
c.7551A>C
c.4717A>C (p.Asn1573His)
c.7596A>C
c.10651A>C (p.Asn3551His)
c.805A>C (p.Asn269His)
c.2007A>C
c.39A>C
c.1748A>C
c.4142A>C (n.4142A>C)
c.10525A>C (p.Asn3509His)
n.4454A>C
c.10654A>C (p.Asn3552His)
2g.73572528A>GCA1715040ALMS1c.10270A>G (p.Asn3424Asp)
c.3356A>G
c.7551A>G
c.4717A>G (p.Asn1573Asp)
c.7596A>G
c.10651A>G (p.Asn3551Asp)
c.805A>G (p.Asn269Asp)
c.2007A>G
c.39A>G
c.1748A>G
c.4142A>G (n.4142A>G)
c.10525A>G (p.Asn3509Asp)
n.4454A>G
c.10654A>G (p.Asn3552Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572528A>TCA347284503ALMS1c.10270A>T (p.Asn3424Tyr)
c.3356A>T
c.7551A>T
c.4717A>T (p.Asn1573Tyr)
c.7596A>T
c.10651A>T (p.Asn3551Tyr)
c.805A>T (p.Asn269Tyr)
c.2007A>T
c.39A>T
c.1748A>T
c.4142A>T (n.4142A>T)
c.10525A>T (p.Asn3509Tyr)
n.4454A>T
c.10654A>T (p.Asn3552Tyr)
2g.73572529dupCA1261021257ALMS1c.10271dup (p.Asn3424LysfsTer14)
c.3357dup
c.7552dup
c.4718dup (p.Asn1573LysfsTer14)
c.7597dup
c.10652dup (p.Asn3551LysfsTer14)
c.806dup (p.Asn269LysfsTer14)
c.2008dup
c.40dup
c.1749dup
c.4143dup (n.4143dup)
c.10526dup (p.Asn3509LysfsTer14)
n.4455dup
c.10655dup (p.Asn3552LysfsTer14)
 ClinVar dbSNP gnomAD v4
2g.73572529A=CA1261021258ALMS1c.10271A= (p.Asn3424=)
c.3357A=
c.7552A=
c.4718A= (p.Asn1573=)
c.7597A=
c.10652A= (p.Asn3551=)
c.806A= (p.Asn269=)
c.2008A=
c.40A=
c.1749A=
c.4143A= (n.4143A=)
c.10526A= (p.Asn3509=)
n.4455A=
c.10655A= (p.Asn3552=)
2g.73572529A>CCA347284511ALMS1c.10271A>C (p.Asn3424Thr)
c.3357A>C
c.7552A>C
c.4718A>C (p.Asn1573Thr)
c.7597A>C
c.10652A>C (p.Asn3551Thr)
c.806A>C (p.Asn269Thr)
c.2008A>C
c.40A>C
c.1749A>C
c.4143A>C (n.4143A>C)
c.10526A>C (p.Asn3509Thr)
n.4455A>C
c.10655A>C (p.Asn3552Thr)
2g.73572529A>GCA50386346ALMS1c.10271A>G (p.Asn3424Ser)
c.3357A>G
c.7552A>G
c.4718A>G (p.Asn1573Ser)
c.7597A>G
c.10652A>G (p.Asn3551Ser)
c.806A>G (p.Asn269Ser)
c.2008A>G
c.40A>G
c.1749A>G
c.4143A>G (n.4143A>G)
c.10526A>G (p.Asn3509Ser)
n.4455A>G
c.10655A>G (p.Asn3552Ser)
 ClinVar dbSNP gnomAD v4
2g.73572529A>TCA347284516ALMS1c.10271A>T (p.Asn3424Ile)
c.3357A>T
c.7552A>T
c.4718A>T (p.Asn1573Ile)
c.7597A>T
c.10652A>T (p.Asn3551Ile)
c.806A>T (p.Asn269Ile)
c.2008A>T
c.40A>T
c.1749A>T
c.4143A>T (n.4143A>T)
c.10526A>T (p.Asn3509Ile)
n.4455A>T
c.10655A>T (p.Asn3552Ile)
 dbSNP
2g.73572530T>ACA347284519ALMS1c.10272T>A (p.Asn3424Lys)
c.3358T>A
c.7553T>A
c.4719T>A (p.Asn1573Lys)
c.7598T>A
c.10653T>A (p.Asn3551Lys)
c.807T>A (p.Asn269Lys)
c.2009T>A
c.41T>A
c.1750T>A
c.4144T>A (n.4144T>A)
c.10527T>A (p.Asn3509Lys)
n.4456T>A
c.10656T>A (p.Asn3552Lys)
2g.73572530T>CCA427024096ALMS1c.10272T>C (p.Asn3424=)
c.3358T>C
c.7553T>C
c.4719T>C (p.Asn1573=)
c.7598T>C
c.10653T>C (p.Asn3551=)
c.807T>C (p.Asn269=)
c.2009T>C
c.41T>C
c.1750T>C
c.4144T>C (n.4144T>C)
c.10527T>C (p.Asn3509=)
n.4456T>C
c.10656T>C (p.Asn3552=)
2g.73572530T>GCA347284521ALMS1c.10272T>G (p.Asn3424Lys)
c.3358T>G
c.7553T>G
c.4719T>G (p.Asn1573Lys)
c.7598T>G
c.10653T>G (p.Asn3551Lys)
c.807T>G (p.Asn269Lys)
c.2009T>G
c.41T>G
c.1750T>G
c.4144T>G (n.4144T>G)
c.10527T>G (p.Asn3509Lys)
n.4456T>G
c.10656T>G (p.Asn3552Lys)
2g.73572530_73572531insACACA2750467773ALMS1c.10272_10273insACA (p.Asn3424_Val3425insThr)
c.3358_3359insACA
c.7553_7554insACA
c.4719_4720insACA (p.Asn1573_Val1574insThr)
c.7598_7599insACA
c.10653_10654insACA (p.Asn3551_Val3552insThr)
c.807_808insACA (p.Asn269_Val270insThr)
c.2009_2010insACA
c.41_42insACA
c.1750_1751insACA
c.4144_4145insACA (n.4144_4145insACA)
c.10527_10528insACA (p.Asn3509_Val3510insThr)
n.4456_4457insACA
c.10656_10657insACA (p.Asn3552_Val3553insThr)
2g.73572531G>ACA347284525ALMS1c.10273G>A (p.Val3425Met)
c.3359G>A
c.7554G>A
c.4720G>A (p.Val1574Met)
c.7599G>A
c.10654G>A (p.Val3552Met)
c.808G>A (p.Val270Met)
c.2010G>A
c.42G>A
c.1751G>A
c.4145G>A (n.4145G>A)
c.10528G>A (p.Val3510Met)
n.4457G>A
c.10657G>A (p.Val3553Met)
 gnomAD v4
2g.73572531G>CCA347284529ALMS1c.10273G>C (p.Val3425Leu)
c.3359G>C
c.7554G>C
c.4720G>C (p.Val1574Leu)
c.7599G>C
c.10654G>C (p.Val3552Leu)
c.808G>C (p.Val270Leu)
c.2010G>C
c.42G>C
c.1751G>C
c.4145G>C (n.4145G>C)
c.10528G>C (p.Val3510Leu)
n.4457G>C
c.10657G>C (p.Val3553Leu)
2g.73572531G>TCA347284530ALMS1c.10273G>T (p.Val3425Leu)
c.3359G>T
c.7554G>T
c.4720G>T (p.Val1574Leu)
c.7599G>T
c.10654G>T (p.Val3552Leu)
c.808G>T (p.Val270Leu)
c.2010G>T
c.42G>T
c.1751G>T
c.4145G>T (n.4145G>T)
c.10528G>T (p.Val3510Leu)
n.4457G>T
c.10657G>T (p.Val3553Leu)
 gnomAD v4
2g.73572532T>ACA347284534ALMS1c.10274T>A (p.Val3425Glu)
c.3360T>A
c.7555T>A
c.4721T>A (p.Val1574Glu)
c.7600T>A
c.10655T>A (p.Val3552Glu)
c.809T>A (p.Val270Glu)
c.2011T>A
c.43T>A
c.1752T>A
c.4146T>A (n.4146T>A)
c.10529T>A (p.Val3510Glu)
n.4458T>A
c.10658T>A (p.Val3553Glu)
2g.73572532T>CCA347284535ALMS1c.10274T>C (p.Val3425Ala)
c.3360T>C
c.7555T>C
c.4721T>C (p.Val1574Ala)
c.7600T>C
c.10655T>C (p.Val3552Ala)
c.809T>C (p.Val270Ala)
c.2011T>C
c.43T>C
c.1752T>C
c.4146T>C (n.4146T>C)
c.10529T>C (p.Val3510Ala)
n.4458T>C
c.10658T>C (p.Val3553Ala)
2g.73572532T>GCA347284537ALMS1c.10274T>G (p.Val3425Gly)
c.3360T>G
c.7555T>G
c.4721T>G (p.Val1574Gly)
c.7600T>G
c.10655T>G (p.Val3552Gly)
c.809T>G (p.Val270Gly)
c.2011T>G
c.43T>G
c.1752T>G
c.4146T>G (n.4146T>G)
c.10529T>G (p.Val3510Gly)
n.4458T>G
c.10658T>G (p.Val3553Gly)
2g.73572533G>ACA427024102ALMS1c.10275G>A (p.Val3425=)
c.3361G>A
c.7556G>A
c.4722G>A (p.Val1574=)
c.7601G>A
c.10656G>A (p.Val3552=)
c.810G>A (p.Val270=)
c.2012G>A
c.44G>A
c.1753G>A
c.4147G>A (n.4147G>A)
c.10530G>A (p.Val3510=)
n.4459G>A
c.10659G>A (p.Val3553=)
 ClinVar dbSNP
2g.73572533G>CCA427024103ALMS1c.10275G>C (p.Val3425=)
c.3361G>C
c.7556G>C
c.4722G>C (p.Val1574=)
c.7601G>C
c.10656G>C (p.Val3552=)
c.810G>C (p.Val270=)
c.2012G>C
c.44G>C
c.1753G>C
c.4147G>C (n.4147G>C)
c.10530G>C (p.Val3510=)
n.4459G>C
c.10659G>C (p.Val3553=)
2g.73572533G>TCA427024105ALMS1c.10275G>T (p.Val3425=)
c.3361G>T
c.7556G>T
c.4722G>T (p.Val1574=)
c.7601G>T
c.10656G>T (p.Val3552=)
c.810G>T (p.Val270=)
c.2012G>T
c.44G>T
c.1753G>T
c.4147G>T (n.4147G>T)
c.10530G>T (p.Val3510=)
n.4459G>T
c.10659G>T (p.Val3553=)
 gnomAD v4
2g.73572534A>CCA347284541ALMS1c.10276A>C (p.Asn3426His)
c.3362A>C
c.7557A>C
c.4723A>C (p.Asn1575His)
c.7602A>C
c.10657A>C (p.Asn3553His)
c.811A>C (p.Asn271His)
c.2013A>C
c.45A>C
c.1754A>C
c.4148A>C (n.4148A>C)
c.10531A>C (p.Asn3511His)
n.4460A>C
c.10660A>C (p.Asn3554His)
2g.73572534A>GCA347284547ALMS1c.10276A>G (p.Asn3426Asp)
c.3362A>G
c.7557A>G
c.4723A>G (p.Asn1575Asp)
c.7602A>G
c.10657A>G (p.Asn3553Asp)
c.811A>G (p.Asn271Asp)
c.2013A>G
c.45A>G
c.1754A>G
c.4148A>G (n.4148A>G)
c.10531A>G (p.Asn3511Asp)
n.4460A>G
c.10660A>G (p.Asn3554Asp)
2g.73572534A>TCA347284543ALMS1c.10276A>T (p.Asn3426Tyr)
c.3362A>T
c.7557A>T
c.4723A>T (p.Asn1575Tyr)
c.7602A>T
c.10657A>T (p.Asn3553Tyr)
c.811A>T (p.Asn271Tyr)
c.2013A>T
c.45A>T
c.1754A>T
c.4148A>T (n.4148A>T)
c.10531A>T (p.Asn3511Tyr)
n.4460A>T
c.10660A>T (p.Asn3554Tyr)
2g.73572535A>CCA347284553ALMS1c.10277A>C (p.Asn3426Thr)
c.3363A>C
c.7558A>C
c.4724A>C (p.Asn1575Thr)
c.7603A>C
c.10658A>C (p.Asn3553Thr)
c.812A>C (p.Asn271Thr)
c.2014A>C
c.46A>C
c.1755A>C
c.4149A>C (n.4149A>C)
c.10532A>C (p.Asn3511Thr)
n.4461A>C
c.10661A>C (p.Asn3554Thr)
2g.73572535A>GCA347284556ALMS1c.10277A>G (p.Asn3426Ser)
c.3363A>G
c.7558A>G
c.4724A>G (p.Asn1575Ser)
c.7603A>G
c.10658A>G (p.Asn3553Ser)
c.812A>G (p.Asn271Ser)
c.2014A>G
c.46A>G
c.1755A>G
c.4149A>G (n.4149A>G)
c.10532A>G (p.Asn3511Ser)
n.4461A>G
c.10661A>G (p.Asn3554Ser)
2g.73572535A>TCA347284558ALMS1c.10277A>T (p.Asn3426Ile)
c.3363A>T
c.7558A>T
c.4724A>T (p.Asn1575Ile)
c.7603A>T
c.10658A>T (p.Asn3553Ile)
c.812A>T (p.Asn271Ile)
c.2014A>T
c.46A>T
c.1755A>T
c.4149A>T (n.4149A>T)
c.10532A>T (p.Asn3511Ile)
n.4461A>T
c.10661A>T (p.Asn3554Ile)
2g.73572536T>ACA347284562ALMS1c.10278T>A (p.Asn3426Lys)
c.3364T>A
c.7559T>A
c.4725T>A (p.Asn1575Lys)
c.7604T>A
c.10659T>A (p.Asn3553Lys)
c.813T>A (p.Asn271Lys)
c.2015T>A
c.47T>A
c.1756T>A
c.4150T>A (n.4150T>A)
c.10533T>A (p.Asn3511Lys)
n.4462T>A
c.10662T>A (p.Asn3554Lys)
2g.73572536T>CCA427024113ALMS1c.10278T>C (p.Asn3426=)
c.3364T>C
c.7559T>C
c.4725T>C (p.Asn1575=)
c.7604T>C
c.10659T>C (p.Asn3553=)
c.813T>C (p.Asn271=)
c.2015T>C
c.47T>C
c.1756T>C
c.4150T>C (n.4150T>C)
c.10533T>C (p.Asn3511=)
n.4462T>C
c.10662T>C (p.Asn3554=)
2g.73572536T>GCA347284566ALMS1c.10278T>G (p.Asn3426Lys)
c.3364T>G
c.7559T>G
c.4725T>G (p.Asn1575Lys)
c.7604T>G
c.10659T>G (p.Asn3553Lys)
c.813T>G (p.Asn271Lys)
c.2015T>G
c.47T>G
c.1756T>G
c.4150T>G (n.4150T>G)
c.10533T>G (p.Asn3511Lys)
n.4462T>G
c.10662T>G (p.Asn3554Lys)
2g.73572537T>ACA347284570ALMS1c.10279T>A (p.Leu3427Met)
c.3365T>A
c.7560T>A
c.4726T>A (p.Leu1576Met)
c.7605T>A
c.10660T>A (p.Leu3554Met)
c.814T>A (p.Leu272Met)
c.2016T>A
c.48T>A
c.1757T>A
c.4151T>A (n.4151T>A)
c.10534T>A (p.Leu3512Met)
n.4463T>A
c.10663T>A (p.Leu3555Met)
2g.73572537T>CCA427024114ALMS1c.10279T>C (p.Leu3427=)
c.3365T>C
c.7560T>C
c.4726T>C (p.Leu1576=)
c.7605T>C
c.10660T>C (p.Leu3554=)
c.814T>C (p.Leu272=)
c.2016T>C
c.48T>C
c.1757T>C
c.4151T>C (n.4151T>C)
c.10534T>C (p.Leu3512=)
n.4463T>C
c.10663T>C (p.Leu3555=)
 ClinVar
2g.73572537T>GCA347284572ALMS1c.10279T>G (p.Leu3427Val)
c.3365T>G
c.7560T>G
c.4726T>G (p.Leu1576Val)
c.7605T>G
c.10660T>G (p.Leu3554Val)
c.814T>G (p.Leu272Val)
c.2016T>G
c.48T>G
c.1757T>G
c.4151T>G (n.4151T>G)
c.10534T>G (p.Leu3512Val)
n.4463T>G
c.10663T>G (p.Leu3555Val)
2g.73572538T>ACA347284577ALMS1c.10280T>A (p.Leu3427Ter)
c.3366T>A
c.7561T>A
c.4727T>A (p.Leu1576Ter)
c.7606T>A
c.10661T>A (p.Leu3554Ter)
c.815T>A (p.Leu272Ter)
c.2017T>A
c.49T>A
c.1758T>A
c.4152T>A (n.4152T>A)
c.10535T>A (p.Leu3512Ter)
n.4464T>A
c.10664T>A (p.Leu3555Ter)
2g.73572538T>CCA347284579ALMS1c.10280T>C (p.Leu3427Ser)
c.3366T>C
c.7561T>C
c.4727T>C (p.Leu1576Ser)
c.7606T>C
c.10661T>C (p.Leu3554Ser)
c.815T>C (p.Leu272Ser)
c.2017T>C
c.49T>C
c.1758T>C
c.4152T>C (n.4152T>C)
c.10535T>C (p.Leu3512Ser)
n.4464T>C
c.10664T>C (p.Leu3555Ser)
2g.73572538T>GCA347284581ALMS1c.10280T>G (p.Leu3427Trp)
c.3366T>G
c.7561T>G
c.4727T>G (p.Leu1576Trp)
c.7606T>G
c.10661T>G (p.Leu3554Trp)
c.815T>G (p.Leu272Trp)
c.2017T>G
c.49T>G
c.1758T>G
c.4152T>G (n.4152T>G)
c.10535T>G (p.Leu3512Trp)
n.4464T>G
c.10664T>G (p.Leu3555Trp)
2g.73572539G>ACA427024121ALMS1c.10281G>A (p.Leu3427=)
c.3367G>A
c.7562G>A
c.4728G>A (p.Leu1576=)
c.7607G>A
c.10662G>A (p.Leu3554=)
c.816G>A (p.Leu272=)
c.2018G>A
c.50G>A
c.1759G>A
c.4153G>A (n.4153G>A)
c.10536G>A (p.Leu3512=)
n.4465G>A
c.10665G>A (p.Leu3555=)
 dbSNP
2g.73572539G>CCA347284587ALMS1c.10281G>C (p.Leu3427Phe)
c.3367G>C
c.7562G>C
c.4728G>C (p.Leu1576Phe)
c.7607G>C
c.10662G>C (p.Leu3554Phe)
c.816G>C (p.Leu272Phe)
c.2018G>C
c.50G>C
c.1759G>C
c.4153G>C (n.4153G>C)
c.10536G>C (p.Leu3512Phe)
n.4465G>C
c.10665G>C (p.Leu3555Phe)
2g.73572539G=CA1261021259ALMS1c.10281G= (p.Leu3427=)
c.3367G=
c.7562G=
c.4728G= (p.Leu1576=)
c.7607G=
c.10662G= (p.Leu3554=)
c.816G= (p.Leu272=)
c.2018G=
c.50G=
c.1759G=
c.4153G= (n.4153G=)
c.10536G= (p.Leu3512=)
n.4465G=
c.10665G= (p.Leu3555=)
2g.73572539G>TCA347284583ALMS1c.10281G>T (p.Leu3427Phe)
c.3367G>T
c.7562G>T
c.4728G>T (p.Leu1576Phe)
c.7607G>T
c.10662G>T (p.Leu3554Phe)
c.816G>T (p.Leu272Phe)
c.2018G>T
c.50G>T
c.1759G>T
c.4153G>T (n.4153G>T)
c.10536G>T (p.Leu3512Phe)
n.4465G>T
c.10665G>T (p.Leu3555Phe)
2g.73572541delCA501086ALMS1c.10283del (p.Gly3428GlufsTer5)
c.3369del
c.7564del
c.4730del (p.Gly1577GlufsTer5)
c.7609del
c.10664del (p.Gly3555GlufsTer5)
c.818del (p.Gly273GlufsTer5)
c.2020del
c.52del
c.1761del
c.4155del (n.4155del)
c.10538del (p.Gly3513GlufsTer5)
n.4467del
c.10667del (p.Gly3556GlufsTer5)
2g.73572540G>ACA347284589ALMS1c.10282G>A (p.Gly3428Arg)
c.3368G>A
c.7563G>A
c.4729G>A (p.Gly1577Arg)
c.7608G>A
c.10663G>A (p.Gly3555Arg)
c.817G>A (p.Gly273Arg)
c.2019G>A
c.51G>A
c.1760G>A
c.4154G>A (n.4154G>A)
c.10537G>A (p.Gly3513Arg)
n.4466G>A
c.10666G>A (p.Gly3556Arg)
2g.73572540G>CCA347284591ALMS1c.10282G>C (p.Gly3428Arg)
c.3368G>C
c.7563G>C
c.4729G>C (p.Gly1577Arg)
c.7608G>C
c.10663G>C (p.Gly3555Arg)
c.817G>C (p.Gly273Arg)
c.2019G>C
c.51G>C
c.1760G>C
c.4154G>C (n.4154G>C)
c.10537G>C (p.Gly3513Arg)
n.4466G>C
c.10666G>C (p.Gly3556Arg)
2g.73572540G>TCA347284593ALMS1c.10282G>T (p.Gly3428Ter)
c.3368G>T
c.7563G>T
c.4729G>T (p.Gly1577Ter)
c.7608G>T
c.10663G>T (p.Gly3555Ter)
c.817G>T (p.Gly273Ter)
c.2019G>T
c.51G>T
c.1760G>T
c.4154G>T (n.4154G>T)
c.10537G>T (p.Gly3513Ter)
n.4466G>T
c.10666G>T (p.Gly3556Ter)
2g.73572541G>ACA347284596ALMS1c.10283G>A (p.Gly3428Glu)
c.3369G>A
c.7564G>A
c.4730G>A (p.Gly1577Glu)
c.7609G>A
c.10664G>A (p.Gly3555Glu)
c.818G>A (p.Gly273Glu)
c.2020G>A
c.52G>A
c.1761G>A
c.4155G>A (n.4155G>A)
c.10538G>A (p.Gly3513Glu)
n.4467G>A
c.10667G>A (p.Gly3556Glu)
2g.73572541G>CCA347284598ALMS1c.10283G>C (p.Gly3428Ala)
c.3369G>C
c.7564G>C
c.4730G>C (p.Gly1577Ala)
c.7609G>C
c.10664G>C (p.Gly3555Ala)
c.818G>C (p.Gly273Ala)
c.2020G>C
c.52G>C
c.1761G>C
c.4155G>C (n.4155G>C)
c.10538G>C (p.Gly3513Ala)
n.4467G>C
c.10667G>C (p.Gly3556Ala)
2g.73572541G>TCA347284600ALMS1c.10283G>T (p.Gly3428Val)
c.3369G>T
c.7564G>T
c.4730G>T (p.Gly1577Val)
c.7609G>T
c.10664G>T (p.Gly3555Val)
c.818G>T (p.Gly273Val)
c.2020G>T
c.52G>T
c.1761G>T
c.4155G>T (n.4155G>T)
c.10538G>T (p.Gly3513Val)
n.4467G>T
c.10667G>T (p.Gly3556Val)
2g.73572542A=CA1261021260ALMS1c.10284A= (p.Gly3428=)
c.3370A=
c.7565A=
c.4731A= (p.Gly1577=)
c.7610A=
c.10665A= (p.Gly3555=)
c.819A= (p.Gly273=)
c.2021A=
c.53A=
c.1762A=
c.4156A= (n.4156A=)
c.10539A= (p.Gly3513=)
n.4468A=
c.10668A= (p.Gly3556=)
2g.73572542A>CCA427024128ALMS1c.10284A>C (p.Gly3428=)
c.3370A>C
c.7565A>C
c.4731A>C (p.Gly1577=)
c.7610A>C
c.10665A>C (p.Gly3555=)
c.819A>C (p.Gly273=)
c.2021A>C
c.53A>C
c.1762A>C
c.4156A>C (n.4156A>C)
c.10539A>C (p.Gly3513=)
n.4468A>C
c.10668A>C (p.Gly3556=)
 ClinVar dbSNP
2g.73572542A>GCA427024130ALMS1c.10284A>G (p.Gly3428=)
c.3370A>G
c.7565A>G
c.4731A>G (p.Gly1577=)
c.7610A>G
c.10665A>G (p.Gly3555=)
c.819A>G (p.Gly273=)
c.2021A>G
c.53A>G
c.1762A>G
c.4156A>G (n.4156A>G)
c.10539A>G (p.Gly3513=)
n.4468A>G
c.10668A>G (p.Gly3556=)
2g.73572542A>TCA427024131ALMS1c.10284A>T (p.Gly3428=)
c.3370A>T
c.7565A>T
c.4731A>T (p.Gly1577=)
c.7610A>T
c.10665A>T (p.Gly3555=)
c.819A>T (p.Gly273=)
c.2021A>T
c.53A>T
c.1762A>T
c.4156A>T (n.4156A>T)
c.10539A>T (p.Gly3513=)
n.4468A>T
c.10668A>T (p.Gly3556=)
2g.73572543_73572544delCA2577005217ALMS1c.10285_10286del (p.Asn3429GlnfsTer8)
c.3371_3372del
c.7566_7567del
c.4732_4733del (p.Asn1578GlnfsTer8)
c.7611_7612del
c.10666_10667del (p.Asn3556GlnfsTer8)
c.820_821del (p.Asn274GlnfsTer8)
c.2022_2023del
c.54_55del
c.1763_1764del
c.4157_4158del (n.4157_4158del)
c.10540_10541del (p.Asn3514GlnfsTer8)
n.4469_4470del
c.10669_10670del (p.Asn3557GlnfsTer8)
2g.73572543A>CCA347284607ALMS1c.10285A>C (p.Asn3429His)
c.3371A>C
c.7566A>C
c.4732A>C (p.Asn1578His)
c.7611A>C
c.10666A>C (p.Asn3556His)
c.820A>C (p.Asn274His)
c.2022A>C
c.54A>C
c.1763A>C
c.4157A>C (n.4157A>C)
c.10540A>C (p.Asn3514His)
n.4469A>C
c.10669A>C (p.Asn3557His)
2g.73572543A>GCA347284604ALMS1c.10285A>G (p.Asn3429Asp)
c.3371A>G
c.7566A>G
c.4732A>G (p.Asn1578Asp)
c.7611A>G
c.10666A>G (p.Asn3556Asp)
c.820A>G (p.Asn274Asp)
c.2022A>G
c.54A>G
c.1763A>G
c.4157A>G (n.4157A>G)
c.10540A>G (p.Asn3514Asp)
n.4469A>G
c.10669A>G (p.Asn3557Asp)
 gnomAD v4
2g.73572543A>TCA347284605ALMS1c.10285A>T (p.Asn3429Tyr)
c.3371A>T
c.7566A>T
c.4732A>T (p.Asn1578Tyr)
c.7611A>T
c.10666A>T (p.Asn3556Tyr)
c.820A>T (p.Asn274Tyr)
c.2022A>T
c.54A>T
c.1763A>T
c.4157A>T (n.4157A>T)
c.10540A>T (p.Asn3514Tyr)
n.4469A>T
c.10669A>T (p.Asn3557Tyr)
2g.73572544A>CCA347284610ALMS1c.10286A>C (p.Asn3429Thr)
c.3372A>C
c.7567A>C
c.4733A>C (p.Asn1578Thr)
c.7612A>C
c.10667A>C (p.Asn3556Thr)
c.821A>C (p.Asn274Thr)
c.2023A>C
c.55A>C
c.1764A>C
c.4158A>C (n.4158A>C)
c.10541A>C (p.Asn3514Thr)
n.4470A>C
c.10670A>C (p.Asn3557Thr)
2g.73572544A>GCA347284611ALMS1c.10286A>G (p.Asn3429Ser)
c.3372A>G
c.7567A>G
c.4733A>G (p.Asn1578Ser)
c.7612A>G
c.10667A>G (p.Asn3556Ser)
c.821A>G (p.Asn274Ser)
c.2023A>G
c.55A>G
c.1764A>G
c.4158A>G (n.4158A>G)
c.10541A>G (p.Asn3514Ser)
n.4470A>G
c.10670A>G (p.Asn3557Ser)
2g.73572544A>TCA347284614ALMS1c.10286A>T (p.Asn3429Ile)
c.3372A>T
c.7567A>T
c.4733A>T (p.Asn1578Ile)
c.7612A>T
c.10667A>T (p.Asn3556Ile)
c.821A>T (p.Asn274Ile)
c.2023A>T
c.55A>T
c.1764A>T
c.4158A>T (n.4158A>T)
c.10541A>T (p.Asn3514Ile)
n.4470A>T
c.10670A>T (p.Asn3557Ile)
2g.73572545delCA2573135804ALMS1c.10287del (p.Asn3429LysfsTer4)
c.3373del
c.7568del
c.4734del (p.Asn1578LysfsTer4)
c.7613del
c.10668del (p.Asn3556LysfsTer4)
c.822del (p.Asn274LysfsTer4)
c.2024del
c.56del
c.1765del
c.4159del (n.4159del)
c.10542del (p.Asn3514LysfsTer4)
n.4471del
c.10671del (p.Asn3557LysfsTer4)
 ClinVar dbSNP
2g.73572545C>ACA347284617ALMS1c.10287C>A (p.Asn3429Lys)
c.3373C>A
c.7568C>A
c.4734C>A (p.Asn1578Lys)
c.7613C>A
c.10668C>A (p.Asn3556Lys)
c.822C>A (p.Asn274Lys)
c.2024C>A
c.56C>A
c.1765C>A
c.4159C>A (n.4159C>A)
c.10542C>A (p.Asn3514Lys)
n.4471C>A
c.10671C>A (p.Asn3557Lys)
2g.73572545C>GCA347284620ALMS1c.10287C>G (p.Asn3429Lys)
c.3373C>G
c.7568C>G
c.4734C>G (p.Asn1578Lys)
c.7613C>G
c.10668C>G (p.Asn3556Lys)
c.822C>G (p.Asn274Lys)
c.2024C>G
c.56C>G
c.1765C>G
c.4159C>G (n.4159C>G)
c.10542C>G (p.Asn3514Lys)
n.4471C>G
c.10671C>G (p.Asn3557Lys)
 ClinVar gnomAD v4
2g.73572545C>TCA427024135ALMS1c.10287C>T (p.Asn3429=)
c.3373C>T
c.7568C>T
c.4734C>T (p.Asn1578=)
c.7613C>T
c.10668C>T (p.Asn3556=)
c.822C>T (p.Asn274=)
c.2024C>T
c.56C>T
c.1765C>T
c.4159C>T (n.4159C>T)
c.10542C>T (p.Asn3514=)
n.4471C>T
c.10671C>T (p.Asn3557=)
2g.73572545_73572548delinsCAAACA1261021261ALMS1c.10287_10290delinsCAAA (p.Asn3429=)
c.3373_3376delinsCAAA
c.7568_7571delinsCAAA
c.4734_4737delinsCAAA (p.Asn1578=)
c.7613_7616delinsCAAA
c.10668_10671delinsCAAA (p.Asn3556=)
c.822_825delinsCAAA (p.Asn274=)
c.2024_2027delinsCAAA
c.56_59delinsCAAA
c.1765_1768delinsCAAA
c.4159_4162delinsCAAA (n.4159_4162delinsCAAA)
c.10542_10545delinsCAAA (p.Asn3514=)
n.4471_4474delinsCAAA
c.10671_10674delinsCAAA (p.Asn3557=)
2g.73572545_73572549delinsCAAAGCA1261021262ALMS1c.10287_10291delinsCAAAG (p.Asn3429=)
c.3373_3377delinsCAAAG
c.7568_7572delinsCAAAG
c.4734_4738delinsCAAAG (p.Asn1578=)
c.7613_7617delinsCAAAG
c.10668_10672delinsCAAAG (p.Asn3556=)
c.822_826delinsCAAAG (p.Asn274=)
c.2024_2028delinsCAAAG
c.56_60delinsCAAAG
c.1765_1769delinsCAAAG
c.4159_4163delinsCAAAG (n.4159_4163delinsCAAAG)
c.10542_10546delinsCAAAG (p.Asn3514=)
n.4471_4475delinsCAAAG
c.10671_10675delinsCAAAG (p.Asn3557=)
2g.73572546A>CCA347284625ALMS1c.10288A>C (p.Lys3430Gln)
c.3374A>C
c.7569A>C
c.4735A>C (p.Lys1579Gln)
c.7614A>C
c.10669A>C (p.Lys3557Gln)
c.823A>C (p.Lys275Gln)
c.2025A>C
c.57A>C
c.1766A>C
c.4160A>C (n.4160A>C)
c.10543A>C (p.Lys3515Gln)
n.4472A>C
c.10672A>C (p.Lys3558Gln)
2g.73572546A>GCA347284636ALMS1c.10288A>G (p.Lys3430Glu)
c.3374A>G
c.7569A>G
c.4735A>G (p.Lys1579Glu)
c.7614A>G
c.10669A>G (p.Lys3557Glu)
c.823A>G (p.Lys275Glu)
c.2025A>G
c.57A>G
c.1766A>G
c.4160A>G (n.4160A>G)
c.10543A>G (p.Lys3515Glu)
n.4472A>G
c.10672A>G (p.Lys3558Glu)
2g.73572546A>TCA347284632ALMS1c.10288A>T (p.Lys3430Ter)
c.3374A>T
c.7569A>T
c.4735A>T (p.Lys1579Ter)
c.7614A>T
c.10669A>T (p.Lys3557Ter)
c.823A>T (p.Lys275Ter)
c.2025A>T
c.57A>T
c.1766A>T
c.4160A>T (n.4160A>T)
c.10543A>T (p.Lys3515Ter)
n.4472A>T
c.10672A>T (p.Lys3558Ter)
2g.73572546_73572548delCA1715041ALMS1c.10288_10290del (p.Lys3430del)
c.3374_3376del
c.7569_7571del
c.4735_4737del (p.Lys1579del)
c.7614_7616del
c.10669_10671del (p.Lys3557del)
c.823_825del (p.Lys275del)
c.2025_2027del
c.57_59del
c.1766_1768del
c.4160_4162del (n.4160_4162del)
c.10543_10545del (p.Lys3515del)
n.4472_4474del
c.10672_10674del (p.Lys3558del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572548_73572551delCA892825931ALMS1c.10290_10293del (p.Glu3431Ter)
c.3376_3379del
c.7571_7574del
c.4737_4740del (p.Glu1580Ter)
c.7616_7619del
c.10671_10674del (p.Glu3558Ter)
c.825_828del (p.Glu276Ter)
c.2027_2030del
c.59_62del
c.1768_1771del
c.4162_4165del (n.4162_4165del)
c.10545_10548del (p.Glu3516Ter)
n.4474_4477del
c.10674_10677del (p.Glu3559Ter)
 ClinVar dbSNP gnomAD v4
2g.73572547A>CCA347284643ALMS1c.10289A>C (p.Lys3430Thr)
c.3375A>C
c.7570A>C
c.4736A>C (p.Lys1579Thr)
c.7615A>C
c.10670A>C (p.Lys3557Thr)
c.824A>C (p.Lys275Thr)
c.2026A>C
c.58A>C
c.1767A>C
c.4161A>C (n.4161A>C)
c.10544A>C (p.Lys3515Thr)
n.4473A>C
c.10673A>C (p.Lys3558Thr)
2g.73572547A>GCA347284647ALMS1c.10289A>G (p.Lys3430Arg)
c.3375A>G
c.7570A>G
c.4736A>G (p.Lys1579Arg)
c.7615A>G
c.10670A>G (p.Lys3557Arg)
c.824A>G (p.Lys275Arg)
c.2026A>G
c.58A>G
c.1767A>G
c.4161A>G (n.4161A>G)
c.10544A>G (p.Lys3515Arg)
n.4473A>G
c.10673A>G (p.Lys3558Arg)
 ClinVar
2g.73572547A>TCA347284651ALMS1c.10289A>T (p.Lys3430Ile)
c.3375A>T
c.7570A>T
c.4736A>T (p.Lys1579Ile)
c.7615A>T
c.10670A>T (p.Lys3557Ile)
c.824A>T (p.Lys275Ile)
c.2026A>T
c.58A>T
c.1767A>T
c.4161A>T (n.4161A>T)
c.10544A>T (p.Lys3515Ile)
n.4473A>T
c.10673A>T (p.Lys3558Ile)
2g.73572548A=CA1261021265ALMS1c.10290A= (p.Lys3430=)
c.3376A=
c.7571A=
c.4737A= (p.Lys1579=)
c.7616A=
c.10671A= (p.Lys3557=)
c.825A= (p.Lys275=)
c.2027A=
c.59A=
c.1768A=
c.4162A= (n.4162A=)
c.10545A= (p.Lys3515=)
n.4474A=
c.10674A= (p.Lys3558=)
2g.73572548A>CCA347284655ALMS1c.10290A>C (p.Lys3430Asn)
c.3376A>C
c.7571A>C
c.4737A>C (p.Lys1579Asn)
c.7616A>C
c.10671A>C (p.Lys3557Asn)
c.825A>C (p.Lys275Asn)
c.2027A>C
c.59A>C
c.1768A>C
c.4162A>C (n.4162A>C)
c.10545A>C (p.Lys3515Asn)
n.4474A>C
c.10674A>C (p.Lys3558Asn)
 ClinVar dbSNP gnomAD v4
2g.73572548A>GCA427024142ALMS1c.10290A>G (p.Lys3430=)
c.3376A>G
c.7571A>G
c.4737A>G (p.Lys1579=)
c.7616A>G
c.10671A>G (p.Lys3557=)
c.825A>G (p.Lys275=)
c.2027A>G
c.59A>G
c.1768A>G
c.4162A>G (n.4162A>G)
c.10545A>G (p.Lys3515=)
n.4474A>G
c.10674A>G (p.Lys3558=)
2g.73572548A>TCA347284659ALMS1c.10290A>T (p.Lys3430Asn)
c.3376A>T
c.7571A>T
c.4737A>T (p.Lys1579Asn)
c.7616A>T
c.10671A>T (p.Lys3557Asn)
c.825A>T (p.Lys275Asn)
c.2027A>T
c.59A>T
c.1768A>T
c.4162A>T (n.4162A>T)
c.10545A>T (p.Lys3515Asn)
n.4474A>T
c.10674A>T (p.Lys3558Asn)
2g.73572549G>ACA347284662ALMS1c.10291G>A (p.Glu3431Lys)
c.3377G>A
c.7572G>A
c.4738G>A (p.Glu1580Lys)
c.7617G>A
c.10672G>A (p.Glu3558Lys)
c.826G>A (p.Glu276Lys)
c.2028G>A
c.60G>A
c.1769G>A
c.4163G>A (n.4163G>A)
c.10546G>A (p.Glu3516Lys)
n.4475G>A
c.10675G>A (p.Glu3559Lys)
 gnomAD v4
2g.73572549G>CCA347284666ALMS1c.10291G>C (p.Glu3431Gln)
c.3377G>C
c.7572G>C
c.4738G>C (p.Glu1580Gln)
c.7617G>C
c.10672G>C (p.Glu3558Gln)
c.826G>C (p.Glu276Gln)
c.2028G>C
c.60G>C
c.1769G>C
c.4163G>C (n.4163G>C)
c.10546G>C (p.Glu3516Gln)
n.4475G>C
c.10675G>C (p.Glu3559Gln)
2g.73572549G>TCA347284669ALMS1c.10291G>T (p.Glu3431Ter)
c.3377G>T
c.7572G>T
c.4738G>T (p.Glu1580Ter)
c.7617G>T
c.10672G>T (p.Glu3558Ter)
c.826G>T (p.Glu276Ter)
c.2028G>T
c.60G>T
c.1769G>T
c.4163G>T (n.4163G>T)
c.10546G>T (p.Glu3516Ter)
n.4475G>T
c.10675G>T (p.Glu3559Ter)
2g.73572550A>CCA347284675ALMS1c.10292A>C (p.Glu3431Ala)
c.3378A>C
c.7573A>C
c.4739A>C (p.Glu1580Ala)
c.7618A>C
c.10673A>C (p.Glu3558Ala)
c.827A>C (p.Glu276Ala)
c.2029A>C
c.61A>C
c.1770A>C
c.4164A>C (n.4164A>C)
c.10547A>C (p.Glu3516Ala)
n.4476A>C
c.10676A>C (p.Glu3559Ala)
2g.73572550A>GCA347284678ALMS1c.10292A>G (p.Glu3431Gly)
c.3378A>G
c.7573A>G
c.4739A>G (p.Glu1580Gly)
c.7618A>G
c.10673A>G (p.Glu3558Gly)
c.827A>G (p.Glu276Gly)
c.2029A>G
c.61A>G
c.1770A>G
c.4164A>G (n.4164A>G)
c.10547A>G (p.Glu3516Gly)
n.4476A>G
c.10676A>G (p.Glu3559Gly)
2g.73572550A>TCA347284682ALMS1c.10292A>T (p.Glu3431Val)
c.3378A>T
c.7573A>T
c.4739A>T (p.Glu1580Val)
c.7618A>T
c.10673A>T (p.Glu3558Val)
c.827A>T (p.Glu276Val)
c.2029A>T
c.61A>T
c.1770A>T
c.4164A>T (n.4164A>T)
c.10547A>T (p.Glu3516Val)
n.4476A>T
c.10676A>T (p.Glu3559Val)
2g.73572551A>CCA347284685ALMS1c.10293A>C (p.Glu3431Asp)
c.3379A>C
c.7574A>C
c.4740A>C (p.Glu1580Asp)
c.7619A>C
c.10674A>C (p.Glu3558Asp)
c.828A>C (p.Glu276Asp)
c.2030A>C
c.62A>C
c.1771A>C
c.4165A>C (n.4165A>C)
c.10548A>C (p.Glu3516Asp)
n.4477A>C
c.10677A>C (p.Glu3559Asp)
2g.73572551A>GCA427024149ALMS1c.10293A>G (p.Glu3431=)
c.3379A>G
c.7574A>G
c.4740A>G (p.Glu1580=)
c.7619A>G
c.10674A>G (p.Glu3558=)
c.828A>G (p.Glu276=)
c.2030A>G
c.62A>G
c.1771A>G
c.4165A>G (n.4165A>G)
c.10548A>G (p.Glu3516=)
n.4477A>G
c.10677A>G (p.Glu3559=)
2g.73572551A>TCA347284690ALMS1c.10293A>T (p.Glu3431Asp)
c.3379A>T
c.7574A>T
c.4740A>T (p.Glu1580Asp)
c.7619A>T
c.10674A>T (p.Glu3558Asp)
c.828A>T (p.Glu276Asp)
c.2030A>T
c.62A>T
c.1771A>T
c.4165A>T (n.4165A>T)
c.10548A>T (p.Glu3516Asp)
n.4477A>T
c.10677A>T (p.Glu3559Asp)
2g.73572552G>ACA347284695ALMS1c.10294G>A (p.Val3432Met)
c.3380G>A
c.7575G>A
c.4741G>A (p.Val1581Met)
c.7620G>A
c.10675G>A (p.Val3559Met)
c.829G>A (p.Val277Met)
c.2031G>A
c.63G>A
c.1772G>A
c.4166G>A (n.4166G>A)
c.10549G>A (p.Val3517Met)
n.4478G>A
c.10678G>A (p.Val3560Met)
 gnomAD v4
2g.73572552G>CCA347284696ALMS1c.10294G>C (p.Val3432Leu)
c.3380G>C
c.7575G>C
c.4741G>C (p.Val1581Leu)
c.7620G>C
c.10675G>C (p.Val3559Leu)
c.829G>C (p.Val277Leu)
c.2031G>C
c.63G>C
c.1772G>C
c.4166G>C (n.4166G>C)
c.10549G>C (p.Val3517Leu)
n.4478G>C
c.10678G>C (p.Val3560Leu)
2g.73572552G>TCA347284698ALMS1c.10294G>T (p.Val3432Leu)
c.3380G>T
c.7575G>T
c.4741G>T (p.Val1581Leu)
c.7620G>T
c.10675G>T (p.Val3559Leu)
c.829G>T (p.Val277Leu)
c.2031G>T
c.63G>T
c.1772G>T
c.4166G>T (n.4166G>T)
c.10549G>T (p.Val3517Leu)
n.4478G>T
c.10678G>T (p.Val3560Leu)
2g.73572552_73572553delinsGTCA1261021266ALMS1c.10294_10295delinsGT (p.Val3432=)
c.3380_3381delinsGT
c.7575_7576delinsGT
c.4741_4742delinsGT (p.Val1581=)
c.7620_7621delinsGT
c.10675_10676delinsGT (p.Val3559=)
c.829_830delinsGT (p.Val277=)
c.2031_2032delinsGT
c.63_64delinsGT
c.1772_1773delinsGT
c.4166_4167delinsGT (n.4166_4167delinsGT)
c.10549_10550delinsGT (p.Val3517=)
n.4478_4479delinsGT
c.10678_10679delinsGT (p.Val3560=)
2g.73572553delCA915944043ALMS1c.10295del (p.Val3432GlyfsTer?)
c.3381del
c.7576del
c.4742del (p.Val1581GlyfsTer?)
c.7621del
c.10676del (p.Val3559GlyfsTer?)
c.830del (p.Val277GlyfsTer?)
c.2032del
c.64del
c.1773del
c.4167del (n.4167del)
c.10550del (p.Val3517GlyfsTer?)
n.4479del
c.10679del (p.Val3560GlyfsTer?)
 ClinVar dbSNP
2g.73572553T>ACA347284712ALMS1c.10295T>A (p.Val3432Glu)
c.3381T>A
c.7576T>A
c.4742T>A (p.Val1581Glu)
c.7621T>A
c.10676T>A (p.Val3559Glu)
c.830T>A (p.Val277Glu)
c.2032T>A
c.64T>A
c.1773T>A
c.4167T>A (n.4167T>A)
c.10550T>A (p.Val3517Glu)
n.4479T>A
c.10679T>A (p.Val3560Glu)
2g.73572553T>CCA1715042ALMS1c.10295T>C (p.Val3432Ala)
c.3381T>C
c.7576T>C
c.4742T>C (p.Val1581Ala)
c.7621T>C
c.10676T>C (p.Val3559Ala)
c.830T>C (p.Val277Ala)
c.2032T>C
c.64T>C
c.1773T>C
c.4167T>C (n.4167T>C)
c.10550T>C (p.Val3517Ala)
n.4479T>C
c.10679T>C (p.Val3560Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572553T>GCA347284715ALMS1c.10295T>G (p.Val3432Gly)
c.3381T>G
c.7576T>G
c.4742T>G (p.Val1581Gly)
c.7621T>G
c.10676T>G (p.Val3559Gly)
c.830T>G (p.Val277Gly)
c.2032T>G
c.64T>G
c.1773T>G
c.4167T>G (n.4167T>G)
c.10550T>G (p.Val3517Gly)
n.4479T>G
c.10679T>G (p.Val3560Gly)
2g.73572553T=CA1261021267ALMS1c.10295T= (p.Val3432=)
c.3381T=
c.7576T=
c.4742T= (p.Val1581=)
c.7621T=
c.10676T= (p.Val3559=)
c.830T= (p.Val277=)
c.2032T=
c.64T=
c.1773T=
c.4167T= (n.4167T=)
c.10550T= (p.Val3517=)
n.4479T=
c.10679T= (p.Val3560=)
2g.73572554G>ACA1715043ALMS1c.10296G>A (p.Val3432=)
c.3382G>A
c.7577G>A
c.4743G>A (p.Val1581=)
c.7622G>A
c.10677G>A (p.Val3559=)
c.831G>A (p.Val277=)
c.2033G>A
c.65G>A
c.1774G>A
c.4168G>A (n.4168G>A)
c.10551G>A (p.Val3517=)
n.4480G>A
c.10680G>A (p.Val3560=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572554G>CCA427024153ALMS1c.10296G>C (p.Val3432=)
c.3382G>C
c.7577G>C
c.4743G>C (p.Val1581=)
c.7622G>C
c.10677G>C (p.Val3559=)
c.831G>C (p.Val277=)
c.2033G>C
c.65G>C
c.1774G>C
c.4168G>C (n.4168G>C)
c.10551G>C (p.Val3517=)
n.4480G>C
c.10680G>C (p.Val3560=)
2g.73572554G=CA1261021269ALMS1c.10296G= (p.Val3432=)
c.3382G=
c.7577G=
c.4743G= (p.Val1581=)
c.7622G=
c.10677G= (p.Val3559=)
c.831G= (p.Val277=)
c.2033G=
c.65G=
c.1774G=
c.4168G= (n.4168G=)
c.10551G= (p.Val3517=)
n.4480G=
c.10680G= (p.Val3560=)
2g.73572554G>TCA427024154ALMS1c.10296G>T (p.Val3432=)
c.3382G>T
c.7577G>T
c.4743G>T (p.Val1581=)
c.7622G>T
c.10677G>T (p.Val3559=)
c.831G>T (p.Val277=)
c.2033G>T
c.65G>T
c.1774G>T
c.4168G>T (n.4168G>T)
c.10551G>T (p.Val3517=)
n.4480G>T
c.10680G>T (p.Val3560=)
2g.73572555A>CCA347284723ALMS1c.10297A>C (p.Met3433Leu)
c.3383A>C
c.7578A>C
c.4744A>C (p.Met1582Leu)
c.7623A>C
c.10678A>C (p.Met3560Leu)
c.832A>C (p.Met278Leu)
c.2034A>C
c.66A>C
c.1775A>C
c.4169A>C (n.4169A>C)
c.10552A>C (p.Met3518Leu)
n.4481A>C
c.10681A>C (p.Met3561Leu)
2g.73572555A>GCA347284728ALMS1c.10297A>G (p.Met3433Val)
c.3383A>G
c.7578A>G
c.4744A>G (p.Met1582Val)
c.7623A>G
c.10678A>G (p.Met3560Val)
c.832A>G (p.Met278Val)
c.2034A>G
c.66A>G
c.1775A>G
c.4169A>G (n.4169A>G)
c.10552A>G (p.Met3518Val)
n.4481A>G
c.10681A>G (p.Met3561Val)
2g.73572555A>TCA347284731ALMS1c.10297A>T (p.Met3433Leu)
c.3383A>T
c.7578A>T
c.4744A>T (p.Met1582Leu)
c.7623A>T
c.10678A>T (p.Met3560Leu)
c.832A>T (p.Met278Leu)
c.2034A>T
c.66A>T
c.1775A>T
c.4169A>T (n.4169A>T)
c.10552A>T (p.Met3518Leu)
n.4481A>T
c.10681A>T (p.Met3561Leu)
2g.73572556T>ACA347284736ALMS1c.10298T>A (p.Met3433Lys)
c.3384T>A
c.7579T>A
c.4745T>A (p.Met1582Lys)
c.7624T>A
c.10679T>A (p.Met3560Lys)
c.833T>A (p.Met278Lys)
c.2035T>A
c.67T>A
c.1776T>A
c.4170T>A (n.4170T>A)
c.10553T>A (p.Met3518Lys)
n.4482T>A
c.10682T>A (p.Met3561Lys)
2g.73572556T>CCA1715044ALMS1c.10298T>C (p.Met3433Thr)
c.3384T>C
c.7579T>C
c.4745T>C (p.Met1582Thr)
c.7624T>C
c.10679T>C (p.Met3560Thr)
c.833T>C (p.Met278Thr)
c.2035T>C
c.67T>C
c.1776T>C
c.4170T>C (n.4170T>C)
c.10553T>C (p.Met3518Thr)
n.4482T>C
c.10682T>C (p.Met3561Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572556T>GCA347284738ALMS1c.10298T>G (p.Met3433Arg)
c.3384T>G
c.7579T>G
c.4745T>G (p.Met1582Arg)
c.7624T>G
c.10679T>G (p.Met3560Arg)
c.833T>G (p.Met278Arg)
c.2035T>G
c.67T>G
c.1776T>G
c.4170T>G (n.4170T>G)
c.10553T>G (p.Met3518Arg)
n.4482T>G
c.10682T>G (p.Met3561Arg)
 ClinVar dbSNP
2g.73572556T=CA1261021274ALMS1c.10298T= (p.Met3433=)
c.3384T=
c.7579T=
c.4745T= (p.Met1582=)
c.7624T=
c.10679T= (p.Met3560=)
c.833T= (p.Met278=)
c.2035T=
c.67T=
c.1776T=
c.4170T= (n.4170T=)
c.10553T= (p.Met3518=)
n.4482T=
c.10682T= (p.Met3561=)
2g.73572557G>ACA347284750ALMS1c.10299G>A (p.Met3433Ile)
c.3385G>A
c.7580G>A
c.4746G>A (p.Met1582Ile)
c.7625G>A
c.10680G>A (p.Met3560Ile)
c.834G>A (p.Met278Ile)
c.2036G>A
c.68G>A
c.1777G>A
c.4171G>A (n.4171G>A)
c.10554G>A (p.Met3518Ile)
n.4483G>A
c.10683G>A (p.Met3561Ile)
 gnomAD v4
2g.73572557G>CCA347284747ALMS1c.10299G>C (p.Met3433Ile)
c.3385G>C
c.7580G>C
c.4746G>C (p.Met1582Ile)
c.7625G>C
c.10680G>C (p.Met3560Ile)
c.834G>C (p.Met278Ile)
c.2036G>C
c.68G>C
c.1777G>C
c.4171G>C (n.4171G>C)
c.10554G>C (p.Met3518Ile)
n.4483G>C
c.10683G>C (p.Met3561Ile)
2g.73572557G=CA1261021278ALMS1c.10299G= (p.Met3433=)
c.3385G=
c.7580G=
c.4746G= (p.Met1582=)
c.7625G=
c.10680G= (p.Met3560=)
c.834G= (p.Met278=)
c.2036G=
c.68G=
c.1777G=
c.4171G= (n.4171G=)
c.10554G= (p.Met3518=)
n.4483G=
c.10683G= (p.Met3561=)
2g.73572557G>TCA347284744ALMS1c.10299G>T (p.Met3433Ile)
c.3385G>T
c.7580G>T
c.4746G>T (p.Met1582Ile)
c.7625G>T
c.10680G>T (p.Met3560Ile)
c.834G>T (p.Met278Ile)
c.2036G>T
c.68G>T
c.1777G>T
c.4171G>T (n.4171G>T)
c.10554G>T (p.Met3518Ile)
n.4483G>T
c.10683G>T (p.Met3561Ile)
2g.73572558G>ACA347284756ALMS1c.10300G>A (p.Asp3434Asn)
c.3386G>A
c.7581G>A
c.4747G>A (p.Asp1583Asn)
c.7626G>A
c.10681G>A (p.Asp3561Asn)
c.835G>A (p.Asp279Asn)
c.2037G>A
c.69G>A
c.1778G>A
c.4172G>A (n.4172G>A)
c.10555G>A (p.Asp3519Asn)
n.4484G>A
c.10684G>A (p.Asp3562Asn)
 gnomAD v4
2g.73572558G>CCA347284760ALMS1c.10300G>C (p.Asp3434His)
c.3386G>C
c.7581G>C
c.4747G>C (p.Asp1583His)
c.7626G>C
c.10681G>C (p.Asp3561His)
c.835G>C (p.Asp279His)
c.2037G>C
c.69G>C
c.1778G>C
c.4172G>C (n.4172G>C)
c.10555G>C (p.Asp3519His)
n.4484G>C
c.10684G>C (p.Asp3562His)
2g.73572558G>TCA347284763ALMS1c.10300G>T (p.Asp3434Tyr)
c.3386G>T
c.7581G>T
c.4747G>T (p.Asp1583Tyr)
c.7626G>T
c.10681G>T (p.Asp3561Tyr)
c.835G>T (p.Asp279Tyr)
c.2037G>T
c.69G>T
c.1778G>T
c.4172G>T (n.4172G>T)
c.10555G>T (p.Asp3519Tyr)
n.4484G>T
c.10684G>T (p.Asp3562Tyr)
2g.73572558_73572560dupCA1261021282ALMS1c.10300_10302dup (p.Asp3434_Thr3435insAsp)
c.3386_3388dup
c.7581_7583dup
c.4747_4749dup (p.Asp1583_Thr1584insAsp)
c.7626_7628dup
c.10681_10683dup (p.Asp3561_Thr3562insAsp)
c.835_837dup (p.Asp279_Thr280insAsp)
c.2037_2039dup
c.69_71dup
c.1778_1780dup
c.4172_4174dup (n.4172_4174dup)
c.10555_10557dup (p.Asp3519_Thr3520insAsp)
n.4484_4486dup
c.10684_10686dup (p.Asp3562_Thr3563insAsp)
 dbSNP
2g.73572559A>CCA347284767ALMS1c.10301A>C (p.Asp3434Ala)
c.3387A>C
c.7582A>C
c.4748A>C (p.Asp1583Ala)
c.7627A>C
c.10682A>C (p.Asp3561Ala)
c.836A>C (p.Asp279Ala)
c.2038A>C
c.70A>C
c.1779A>C
c.4173A>C (n.4173A>C)
c.10556A>C (p.Asp3519Ala)
n.4485A>C
c.10685A>C (p.Asp3562Ala)
2g.73572559A>GCA347284770ALMS1c.10301A>G (p.Asp3434Gly)
c.3387A>G
c.7582A>G
c.4748A>G (p.Asp1583Gly)
c.7627A>G
c.10682A>G (p.Asp3561Gly)
c.836A>G (p.Asp279Gly)
c.2038A>G
c.70A>G
c.1779A>G
c.4173A>G (n.4173A>G)
c.10556A>G (p.Asp3519Gly)
n.4485A>G
c.10685A>G (p.Asp3562Gly)
 gnomAD v4
2g.73572559A>TCA347284773ALMS1c.10301A>T (p.Asp3434Val)
c.3387A>T
c.7582A>T
c.4748A>T (p.Asp1583Val)
c.7627A>T
c.10682A>T (p.Asp3561Val)
c.836A>T (p.Asp279Val)
c.2038A>T
c.70A>T
c.1779A>T
c.4173A>T (n.4173A>T)
c.10556A>T (p.Asp3519Val)
n.4485A>T
c.10685A>T (p.Asp3562Val)
2g.73572560T>ACA347284777ALMS1c.10302T>A (p.Asp3434Glu)
c.3388T>A
c.7583T>A
c.4749T>A (p.Asp1583Glu)
c.7628T>A
c.10683T>A (p.Asp3561Glu)
c.837T>A (p.Asp279Glu)
c.2039T>A
c.71T>A
c.1780T>A
c.4174T>A (n.4174T>A)
c.10557T>A (p.Asp3519Glu)
n.4486T>A
c.10686T>A (p.Asp3562Glu)
 dbSNP
2g.73572560T>CCA427024159ALMS1c.10302T>C (p.Asp3434=)
c.3388T>C
c.7583T>C
c.4749T>C (p.Asp1583=)
c.7628T>C
c.10683T>C (p.Asp3561=)
c.837T>C (p.Asp279=)
c.2039T>C
c.71T>C
c.1780T>C
c.4174T>C (n.4174T>C)
c.10557T>C (p.Asp3519=)
n.4486T>C
c.10686T>C (p.Asp3562=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572560T>GCA347284781ALMS1c.10302T>G (p.Asp3434Glu)
c.3388T>G
c.7583T>G
c.4749T>G (p.Asp1583Glu)
c.7628T>G
c.10683T>G (p.Asp3561Glu)
c.837T>G (p.Asp279Glu)
c.2039T>G
c.71T>G
c.1780T>G
c.4174T>G (n.4174T>G)
c.10557T>G (p.Asp3519Glu)
n.4486T>G
c.10686T>G (p.Asp3562Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572560T=CA1261021291ALMS1c.10302T= (p.Asp3434=)
c.3388T=
c.7583T=
c.4749T= (p.Asp1583=)
c.7628T=
c.10683T= (p.Asp3561=)
c.837T= (p.Asp279=)
c.2039T=
c.71T=
c.1780T=
c.4174T= (n.4174T=)
c.10557T= (p.Asp3519=)
n.4486T=
c.10686T= (p.Asp3562=)
2g.73572561A=CA1261021295ALMS1c.10303A= (p.Thr3435=)
c.3389A=
c.7584A=
c.4750A= (p.Thr1584=)
c.7629A=
c.10684A= (p.Thr3562=)
c.838A= (p.Thr280=)
c.2040A=
c.72A=
c.1781A=
c.4175A= (n.4175A=)
c.10558A= (p.Thr3520=)
n.4487A=
c.10687A= (p.Thr3563=)
2g.73572561A>CCA347284785ALMS1c.10303A>C (p.Thr3435Pro)
c.3389A>C
c.7584A>C
c.4750A>C (p.Thr1584Pro)
c.7629A>C
c.10684A>C (p.Thr3562Pro)
c.838A>C (p.Thr280Pro)
c.2040A>C
c.72A>C
c.1781A>C
c.4175A>C (n.4175A>C)
c.10558A>C (p.Thr3520Pro)
n.4487A>C
c.10687A>C (p.Thr3563Pro)
2g.73572561A>GCA347284790ALMS1c.10303A>G (p.Thr3435Ala)
c.3389A>G
c.7584A>G
c.4750A>G (p.Thr1584Ala)
c.7629A>G
c.10684A>G (p.Thr3562Ala)
c.838A>G (p.Thr280Ala)
c.2040A>G
c.72A>G
c.1781A>G
c.4175A>G (n.4175A>G)
c.10558A>G (p.Thr3520Ala)
n.4487A>G
c.10687A>G (p.Thr3563Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.73572561A>TCA347284798ALMS1c.10303A>T (p.Thr3435Ser)
c.3389A>T
c.7584A>T
c.4750A>T (p.Thr1584Ser)
c.7629A>T
c.10684A>T (p.Thr3562Ser)
c.838A>T (p.Thr280Ser)
c.2040A>T
c.72A>T
c.1781A>T
c.4175A>T (n.4175A>T)
c.10558A>T (p.Thr3520Ser)
n.4487A>T
c.10687A>T (p.Thr3563Ser)
2g.73572562C>ACA347284802ALMS1c.10304C>A (p.Thr3435Asn)
c.3390C>A
c.7585C>A
c.4751C>A (p.Thr1584Asn)
c.7630C>A
c.10685C>A (p.Thr3562Asn)
c.839C>A (p.Thr280Asn)
c.2041C>A
c.73C>A
c.1782C>A
c.4176C>A (n.4176C>A)
c.10559C>A (p.Thr3520Asn)
n.4488C>A
c.10688C>A (p.Thr3563Asn)
2g.73572562C=CA1261021301ALMS1c.10304C= (p.Thr3435=)
c.3390C=
c.7585C=
c.4751C= (p.Thr1584=)
c.7630C=
c.10685C= (p.Thr3562=)
c.839C= (p.Thr280=)
c.2041C=
c.73C=
c.1782C=
c.4176C= (n.4176C=)
c.10559C= (p.Thr3520=)
n.4488C=
c.10688C= (p.Thr3563=)
2g.73572562C>GCA347284804ALMS1c.10304C>G (p.Thr3435Ser)
c.3390C>G
c.7585C>G
c.4751C>G (p.Thr1584Ser)
c.7630C>G
c.10685C>G (p.Thr3562Ser)
c.839C>G (p.Thr280Ser)
c.2041C>G
c.73C>G
c.1782C>G
c.4176C>G (n.4176C>G)
c.10559C>G (p.Thr3520Ser)
n.4488C>G
c.10688C>G (p.Thr3563Ser)
 ClinVar dbSNP
2g.73572562C>TCA347284805ALMS1c.10304C>T (p.Thr3435Ile)
c.3390C>T
c.7585C>T
c.4751C>T (p.Thr1584Ile)
c.7630C>T
c.10685C>T (p.Thr3562Ile)
c.839C>T (p.Thr280Ile)
c.2041C>T
c.73C>T
c.1782C>T
c.4176C>T (n.4176C>T)
c.10559C>T (p.Thr3520Ile)
n.4488C>T
c.10688C>T (p.Thr3563Ile)
 ClinVar dbSNP gnomAD v4
2g.73572563T>ACA427024161ALMS1c.10305T>A (p.Thr3435=)
c.3391T>A
c.7586T>A
c.4752T>A (p.Thr1584=)
c.7631T>A
c.10686T>A (p.Thr3562=)
c.840T>A (p.Thr280=)
c.2042T>A
c.74T>A
c.1783T>A
c.4177T>A (n.4177T>A)
c.10560T>A (p.Thr3520=)
n.4489T>A
c.10689T>A (p.Thr3563=)
2g.73572563T>CCA427024162ALMS1c.10305T>C (p.Thr3435=)
c.3391T>C
c.7586T>C
c.4752T>C (p.Thr1584=)
c.7631T>C
c.10686T>C (p.Thr3562=)
c.840T>C (p.Thr280=)
c.2042T>C
c.74T>C
c.1783T>C
c.4177T>C (n.4177T>C)
c.10560T>C (p.Thr3520=)
n.4489T>C
c.10689T>C (p.Thr3563=)
 gnomAD v4
2g.73572563T>GCA427024164ALMS1c.10305T>G (p.Thr3435=)
c.3391T>G
c.7586T>G
c.4752T>G (p.Thr1584=)
c.7631T>G
c.10686T>G (p.Thr3562=)
c.840T>G (p.Thr280=)
c.2042T>G
c.74T>G
c.1783T>G
c.4177T>G (n.4177T>G)
c.10560T>G (p.Thr3520=)
n.4489T>G
c.10689T>G (p.Thr3563=)
2g.73572564A>CCA347284815ALMS1c.10306A>C (p.Thr3436Pro)
c.3392A>C
c.7587A>C
c.4753A>C (p.Thr1585Pro)
c.7632A>C
c.10687A>C (p.Thr3563Pro)
c.841A>C (p.Thr281Pro)
c.2043A>C
c.75A>C
c.1784A>C
c.4178A>C (n.4178A>C)
c.10561A>C (p.Thr3521Pro)
n.4490A>C
c.10690A>C (p.Thr3564Pro)
2g.73572564A>GCA347284818ALMS1c.10306A>G (p.Thr3436Ala)
c.3392A>G
c.7587A>G
c.4753A>G (p.Thr1585Ala)
c.7632A>G
c.10687A>G (p.Thr3563Ala)
c.841A>G (p.Thr281Ala)
c.2043A>G
c.75A>G
c.1784A>G
c.4178A>G (n.4178A>G)
c.10561A>G (p.Thr3521Ala)
n.4490A>G
c.10690A>G (p.Thr3564Ala)
2g.73572564A>TCA347284811ALMS1c.10306A>T (p.Thr3436Ser)
c.3392A>T
c.7587A>T
c.4753A>T (p.Thr1585Ser)
c.7632A>T
c.10687A>T (p.Thr3563Ser)
c.841A>T (p.Thr281Ser)
c.2043A>T
c.75A>T
c.1784A>T
c.4178A>T (n.4178A>T)
c.10561A>T (p.Thr3521Ser)
n.4490A>T
c.10690A>T (p.Thr3564Ser)
2g.73572565C>ACA347284821ALMS1c.10307C>A (p.Thr3436Asn)
c.3393C>A
c.7588C>A
c.4754C>A (p.Thr1585Asn)
c.7633C>A
c.10688C>A (p.Thr3563Asn)
c.842C>A (p.Thr281Asn)
c.2044C>A
c.76C>A
c.1785C>A
c.4179C>A (n.4179C>A)
c.10562C>A (p.Thr3521Asn)
n.4491C>A
c.10691C>A (p.Thr3564Asn)
2g.73572565C=CA1261021304ALMS1c.10307C= (p.Thr3436=)
c.3393C=
c.7588C=
c.4754C= (p.Thr1585=)
c.7633C=
c.10688C= (p.Thr3563=)
c.842C= (p.Thr281=)
c.2044C=
c.76C=
c.1785C=
c.4179C= (n.4179C=)
c.10562C= (p.Thr3521=)
n.4491C=
c.10691C= (p.Thr3564=)
2g.73572565C>GCA347284824ALMS1c.10307C>G (p.Thr3436Ser)
c.3393C>G
c.7588C>G
c.4754C>G (p.Thr1585Ser)
c.7633C>G
c.10688C>G (p.Thr3563Ser)
c.842C>G (p.Thr281Ser)
c.2044C>G
c.76C>G
c.1785C>G
c.4179C>G (n.4179C>G)
c.10562C>G (p.Thr3521Ser)
n.4491C>G
c.10691C>G (p.Thr3564Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.73572565C>TCA347284826ALMS1c.10307C>T (p.Thr3436Ile)
c.3393C>T
c.7588C>T
c.4754C>T (p.Thr1585Ile)
c.7633C>T
c.10688C>T (p.Thr3563Ile)
c.842C>T (p.Thr281Ile)
c.2044C>T
c.76C>T
c.1785C>T
c.4179C>T (n.4179C>T)
c.10562C>T (p.Thr3521Ile)
n.4491C>T
c.10691C>T (p.Thr3564Ile)
2g.73572566T>ACA427024169ALMS1c.10308T>A (p.Thr3436=)
c.3394T>A
c.7589T>A
c.4755T>A (p.Thr1585=)
c.7634T>A
c.10689T>A (p.Thr3563=)
c.843T>A (p.Thr281=)
c.2045T>A
c.77T>A
c.1786T>A
c.4180T>A (n.4180T>A)
c.10563T>A (p.Thr3521=)
n.4492T>A
c.10692T>A (p.Thr3564=)
2g.73572566T>CCA427024168ALMS1c.10308T>C (p.Thr3436=)
c.3394T>C
c.7589T>C
c.4755T>C (p.Thr1585=)
c.7634T>C
c.10689T>C (p.Thr3563=)
c.843T>C (p.Thr281=)
c.2045T>C
c.77T>C
c.1786T>C
c.4180T>C (n.4180T>C)
c.10563T>C (p.Thr3521=)
n.4492T>C
c.10692T>C (p.Thr3564=)
 ClinVar
2g.73572566T>GCA427024167ALMS1c.10308T>G (p.Thr3436=)
c.3394T>G
c.7589T>G
c.4755T>G (p.Thr1585=)
c.7634T>G
c.10689T>G (p.Thr3563=)
c.843T>G (p.Thr281=)
c.2045T>G
c.77T>G
c.1786T>G
c.4180T>G (n.4180T>G)
c.10563T>G (p.Thr3521=)
n.4492T>G
c.10692T>G (p.Thr3564=)
2g.73572567A>CCA347284830ALMS1c.10309A>C (p.Lys3437Gln)
c.3395A>C
c.7590A>C
c.4756A>C (p.Lys1586Gln)
c.7635A>C
c.10690A>C (p.Lys3564Gln)
c.844A>C (p.Lys282Gln)
c.2046A>C
c.78A>C
c.1787A>C
c.4181A>C (n.4181A>C)
c.10564A>C (p.Lys3522Gln)
n.4493A>C
c.10693A>C (p.Lys3565Gln)
 gnomAD v4
2g.73572567A>GCA347284833ALMS1c.10309A>G (p.Lys3437Glu)
c.3395A>G
c.7590A>G
c.4756A>G (p.Lys1586Glu)
c.7635A>G
c.10690A>G (p.Lys3564Glu)
c.844A>G (p.Lys282Glu)
c.2046A>G
c.78A>G
c.1787A>G
c.4181A>G (n.4181A>G)
c.10564A>G (p.Lys3522Glu)
n.4493A>G
c.10693A>G (p.Lys3565Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.73572567A>TCA347284836ALMS1c.10309A>T (p.Lys3437Ter)
c.3395A>T
c.7590A>T
c.4756A>T (p.Lys1586Ter)
c.7635A>T
c.10690A>T (p.Lys3564Ter)
c.844A>T (p.Lys282Ter)
c.2046A>T
c.78A>T
c.1787A>T
c.4181A>T (n.4181A>T)
c.10564A>T (p.Lys3522Ter)
n.4493A>T
c.10693A>T (p.Lys3565Ter)
2g.73572568A>CCA347284848ALMS1c.10310A>C (p.Lys3437Thr)
c.3396A>C
c.7591A>C
c.4757A>C (p.Lys1586Thr)
c.7636A>C
c.10691A>C (p.Lys3564Thr)
c.845A>C (p.Lys282Thr)
c.2047A>C
c.79A>C
c.1788A>C
c.4182A>C (n.4182A>C)
c.10565A>C (p.Lys3522Thr)
n.4494A>C
c.10694A>C (p.Lys3565Thr)
2g.73572568A>GCA347284841ALMS1c.10310A>G (p.Lys3437Arg)
c.3396A>G
c.7591A>G
c.4757A>G (p.Lys1586Arg)
c.7636A>G
c.10691A>G (p.Lys3564Arg)
c.845A>G (p.Lys282Arg)
c.2047A>G
c.79A>G
c.1788A>G
c.4182A>G (n.4182A>G)
c.10565A>G (p.Lys3522Arg)
n.4494A>G
c.10694A>G (p.Lys3565Arg)
2g.73572568A>TCA347284845ALMS1c.10310A>T (p.Lys3437Ile)
c.3396A>T
c.7591A>T
c.4757A>T (p.Lys1586Ile)
c.7636A>T
c.10691A>T (p.Lys3564Ile)
c.845A>T (p.Lys282Ile)
c.2047A>T
c.79A>T
c.1788A>T
c.4182A>T (n.4182A>T)
c.10565A>T (p.Lys3522Ile)
n.4494A>T
c.10694A>T (p.Lys3565Ile)
2g.73572569A=CA1261021307ALMS1c.10311A= (p.Lys3437=)
c.3397A=
c.7592A=
c.4758A= (p.Lys1586=)
c.7637A=
c.10692A= (p.Lys3564=)
c.846A= (p.Lys282=)
c.2048A=
c.80A=
c.1789A=
c.4183A= (n.4183A=)
c.10566A= (p.Lys3522=)
n.4495A=
c.10695A= (p.Lys3565=)
2g.73572569A>CCA347284853ALMS1c.10311A>C (p.Lys3437Asn)
c.3397A>C
c.7592A>C
c.4758A>C (p.Lys1586Asn)
c.7637A>C
c.10692A>C (p.Lys3564Asn)
c.846A>C (p.Lys282Asn)
c.2048A>C
c.80A>C
c.1789A>C
c.4183A>C (n.4183A>C)
c.10566A>C (p.Lys3522Asn)
n.4495A>C
c.10695A>C (p.Lys3565Asn)
2g.73572569A>GCA427024175ALMS1c.10311A>G (p.Lys3437=)
c.3397A>G
c.7592A>G
c.4758A>G (p.Lys1586=)
c.7637A>G
c.10692A>G (p.Lys3564=)
c.846A>G (p.Lys282=)
c.2048A>G
c.80A>G
c.1789A>G
c.4183A>G (n.4183A>G)
c.10566A>G (p.Lys3522=)
n.4495A>G
c.10695A>G (p.Lys3565=)
2g.73572569A>TCA347284856ALMS1c.10311A>T (p.Lys3437Asn)
c.3397A>T
c.7592A>T
c.4758A>T (p.Lys1586Asn)
c.7637A>T
c.10692A>T (p.Lys3564Asn)
c.846A>T (p.Lys282Asn)
c.2048A>T
c.80A>T
c.1789A>T
c.4183A>T (n.4183A>T)
c.10566A>T (p.Lys3522Asn)
n.4495A>T
c.10695A>T (p.Lys3565Asn)
 dbSNP
2g.73572570A=CA1261021310ALMS1c.10312A= (p.Ser3438=)
c.3398A=
c.7593A=
c.4759A= (p.Ser1587=)
c.7638A=
c.10693A= (p.Ser3565=)
c.847A= (p.Ser283=)
c.2049A=
c.81A=
c.1790A=
c.4184A= (n.4184A=)
c.10567A= (p.Ser3523=)
n.4496A=
c.10696A= (p.Ser3566=)
2g.73572570A>CCA347284863ALMS1c.10312A>C (p.Ser3438Arg)
c.3398A>C
c.7593A>C
c.4759A>C (p.Ser1587Arg)
c.7638A>C
c.10693A>C (p.Ser3565Arg)
c.847A>C (p.Ser283Arg)
c.2049A>C
c.81A>C
c.1790A>C
c.4184A>C (n.4184A>C)
c.10567A>C (p.Ser3523Arg)
n.4496A>C
c.10696A>C (p.Ser3566Arg)
2g.73572570A>GCA347284865ALMS1c.10312A>G (p.Ser3438Gly)
c.3398A>G
c.7593A>G
c.4759A>G (p.Ser1587Gly)
c.7638A>G
c.10693A>G (p.Ser3565Gly)
c.847A>G (p.Ser283Gly)
c.2049A>G
c.81A>G
c.1790A>G
c.4184A>G (n.4184A>G)
c.10567A>G (p.Ser3523Gly)
n.4496A>G
c.10696A>G (p.Ser3566Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.73572570A>TCA347284867ALMS1c.10312A>T (p.Ser3438Cys)
c.3398A>T
c.7593A>T
c.4759A>T (p.Ser1587Cys)
c.7638A>T
c.10693A>T (p.Ser3565Cys)
c.847A>T (p.Ser283Cys)
c.2049A>T
c.81A>T
c.1790A>T
c.4184A>T (n.4184A>T)
c.10567A>T (p.Ser3523Cys)
n.4496A>T
c.10696A>T (p.Ser3566Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572571G>ACA347284869ALMS1c.10313G>A (p.Ser3438Asn)
c.3399G>A
c.7594G>A
c.4760G>A (p.Ser1587Asn)
c.7639G>A
c.10694G>A (p.Ser3565Asn)
c.848G>A (p.Ser283Asn)
c.2050G>A
c.82G>A
c.1791G>A
c.4185G>A (n.4185G>A)
c.10568G>A (p.Ser3523Asn)
n.4497G>A
c.10697G>A (p.Ser3566Asn)
2g.73572571G>CCA347284872ALMS1c.10313G>C (p.Ser3438Thr)
c.3399G>C
c.7594G>C
c.4760G>C (p.Ser1587Thr)
c.7639G>C
c.10694G>C (p.Ser3565Thr)
c.848G>C (p.Ser283Thr)
c.2050G>C
c.82G>C
c.1791G>C
c.4185G>C (n.4185G>C)
c.10568G>C (p.Ser3523Thr)
n.4497G>C
c.10697G>C (p.Ser3566Thr)
2g.73572571G>TCA347284870ALMS1c.10313G>T (p.Ser3438Ile)
c.3399G>T
c.7594G>T
c.4760G>T (p.Ser1587Ile)
c.7639G>T
c.10694G>T (p.Ser3565Ile)
c.848G>T (p.Ser283Ile)
c.2050G>T
c.82G>T
c.1791G>T
c.4185G>T (n.4185G>T)
c.10568G>T (p.Ser3523Ile)
n.4497G>T
c.10697G>T (p.Ser3566Ile)
 gnomAD v4
2g.73572572T>ACA347284874ALMS1c.10314T>A (p.Ser3438Arg)
c.3400T>A
c.7595T>A
c.4761T>A (p.Ser1587Arg)
c.7640T>A
c.10695T>A (p.Ser3565Arg)
c.849T>A (p.Ser283Arg)
c.2051T>A
c.83T>A
c.1792T>A
c.4186T>A (n.4186T>A)
c.10569T>A (p.Ser3523Arg)
n.4498T>A
c.10698T>A (p.Ser3566Arg)
2g.73572572T>CCA427024178ALMS1c.10314T>C (p.Ser3438=)
c.3400T>C
c.7595T>C
c.4761T>C (p.Ser1587=)
c.7640T>C
c.10695T>C (p.Ser3565=)
c.849T>C (p.Ser283=)
c.2051T>C
c.83T>C
c.1792T>C
c.4186T>C (n.4186T>C)
c.10569T>C (p.Ser3523=)
n.4498T>C
c.10698T>C (p.Ser3566=)
2g.73572572T>GCA347284876ALMS1c.10314T>G (p.Ser3438Arg)
c.3400T>G
c.7595T>G
c.4761T>G (p.Ser1587Arg)
c.7640T>G
c.10695T>G (p.Ser3565Arg)
c.849T>G (p.Ser283Arg)
c.2051T>G
c.83T>G
c.1792T>G
c.4186T>G (n.4186T>G)
c.10569T>G (p.Ser3523Arg)
n.4498T>G
c.10698T>G (p.Ser3566Arg)
2g.73572573C>ACA347284880ALMS1c.10315C>A (p.Gln3439Lys)
c.3401C>A
c.7596C>A
c.4762C>A (p.Gln1588Lys)
c.7641C>A
c.10696C>A (p.Gln3566Lys)
c.850C>A (p.Gln284Lys)
c.2052C>A
c.84C>A
c.1793C>A
c.4187C>A (n.4187C>A)
c.10570C>A (p.Gln3524Lys)
n.4499C>A
c.10699C>A (p.Gln3567Lys)
 gnomAD v4
2g.73572573C=CA1261021316ALMS1c.10315C= (p.Gln3439=)
c.3401C=
c.7596C=
c.4762C= (p.Gln1588=)
c.7641C=
c.10696C= (p.Gln3566=)
c.850C= (p.Gln284=)
c.2052C=
c.84C=
c.1793C=
c.4187C= (n.4187C=)
c.10570C= (p.Gln3524=)
n.4499C=
c.10699C= (p.Gln3567=)
2g.73572573C>GCA50386373ALMS1c.10315C>G (p.Gln3439Glu)
c.3401C>G
c.7596C>G
c.4762C>G (p.Gln1588Glu)
c.7641C>G
c.10696C>G (p.Gln3566Glu)
c.850C>G (p.Gln284Glu)
c.2052C>G
c.84C>G
c.1793C>G
c.4187C>G (n.4187C>G)
c.10570C>G (p.Gln3524Glu)
n.4499C>G
c.10699C>G (p.Gln3567Glu)
 dbSNP gnomAD v4
2g.73572573C>TCA347284887ALMS1c.10315C>T (p.Gln3439Ter)
c.3401C>T
c.7596C>T
c.4762C>T (p.Gln1588Ter)
c.7641C>T
c.10696C>T (p.Gln3566Ter)
c.850C>T (p.Gln284Ter)
c.2052C>T
c.84C>T
c.1793C>T
c.4187C>T (n.4187C>T)
c.10570C>T (p.Gln3524Ter)
n.4499C>T
c.10699C>T (p.Gln3567Ter)
 dbSNP gnomAD v2
2g.73572574A>CCA347284892ALMS1c.10316A>C (p.Gln3439Pro)
c.3402A>C
c.7597A>C
c.4763A>C (p.Gln1588Pro)
c.7642A>C
c.10697A>C (p.Gln3566Pro)
c.851A>C (p.Gln284Pro)
c.2053A>C
c.85A>C
c.1794A>C
c.4188A>C (n.4188A>C)
c.10571A>C (p.Gln3524Pro)
n.4500A>C
c.10700A>C (p.Gln3567Pro)
2g.73572574A>GCA347284895ALMS1c.10316A>G (p.Gln3439Arg)
c.3402A>G
c.7597A>G
c.4763A>G (p.Gln1588Arg)
c.7642A>G
c.10697A>G (p.Gln3566Arg)
c.851A>G (p.Gln284Arg)
c.2053A>G
c.85A>G
c.1794A>G
c.4188A>G (n.4188A>G)
c.10571A>G (p.Gln3524Arg)
n.4500A>G
c.10700A>G (p.Gln3567Arg)
2g.73572574A>TCA347284899ALMS1c.10316A>T (p.Gln3439Leu)
c.3402A>T
c.7597A>T
c.4763A>T (p.Gln1588Leu)
c.7642A>T
c.10697A>T (p.Gln3566Leu)
c.851A>T (p.Gln284Leu)
c.2053A>T
c.85A>T
c.1794A>T
c.4188A>T (n.4188A>T)
c.10571A>T (p.Gln3524Leu)
n.4500A>T
c.10700A>T (p.Gln3567Leu)
2g.73572575_73572579delCA2697548291ALMS1c.10317_10321del (p.Val3440ArgfsTer6)
c.3403_3407del
c.7598_7602del
c.4764_4768del (p.Val1589ArgfsTer6)
c.7643_7647del
c.10698_10702del (p.Val3567ArgfsTer6)
c.852_856del (p.Val285ArgfsTer6)
c.2054_2058del
c.86_90del
c.1795_1799del
c.4189_4193del (n.4189_4193del)
c.10572_10576del (p.Val3525ArgfsTer6)
n.4501_4505del
c.10701_10705del (p.Val3568ArgfsTer6)
 ClinVar
2g.73572575A>CCA347284906ALMS1c.10317A>C (p.Gln3439His)
c.3403A>C
c.7598A>C
c.4764A>C (p.Gln1588His)
c.7643A>C
c.10698A>C (p.Gln3566His)
c.852A>C (p.Gln284His)
c.2054A>C
c.86A>C
c.1795A>C
c.4189A>C (n.4189A>C)
c.10572A>C (p.Gln3524His)
n.4501A>C
c.10701A>C (p.Gln3567His)
2g.73572575A>GCA427024181ALMS1c.10317A>G (p.Gln3439=)
c.3403A>G
c.7598A>G
c.4764A>G (p.Gln1588=)
c.7643A>G
c.10698A>G (p.Gln3566=)
c.852A>G (p.Gln284=)
c.2054A>G
c.86A>G
c.1795A>G
c.4189A>G (n.4189A>G)
c.10572A>G (p.Gln3524=)
n.4501A>G
c.10701A>G (p.Gln3567=)
2g.73572575A>TCA347284909ALMS1c.10317A>T (p.Gln3439His)
c.3403A>T
c.7598A>T
c.4764A>T (p.Gln1588His)
c.7643A>T
c.10698A>T (p.Gln3566His)
c.852A>T (p.Gln284His)
c.2054A>T
c.86A>T
c.1795A>T
c.4189A>T (n.4189A>T)
c.10572A>T (p.Gln3524His)
n.4501A>T
c.10701A>T (p.Gln3567His)
2g.73572576G>ACA347284914ALMS1c.10318G>A (p.Val3440Ile)
c.3404G>A
c.7599G>A
c.4765G>A (p.Val1589Ile)
c.7644G>A
c.10699G>A (p.Val3567Ile)
c.853G>A (p.Val285Ile)
c.2055G>A
c.87G>A
c.1796G>A
c.4190G>A (n.4190G>A)
c.10573G>A (p.Val3525Ile)
n.4502G>A
c.10702G>A (p.Val3568Ile)
 gnomAD v2 gnomAD v4
2g.73572576G>CCA347284922ALMS1c.10318G>C (p.Val3440Leu)
c.3404G>C
c.7599G>C
c.4765G>C (p.Val1589Leu)
c.7644G>C
c.10699G>C (p.Val3567Leu)
c.853G>C (p.Val285Leu)
c.2055G>C
c.87G>C
c.1796G>C
c.4190G>C (n.4190G>C)
c.10573G>C (p.Val3525Leu)
n.4502G>C
c.10702G>C (p.Val3568Leu)
2g.73572576G>TCA347284918ALMS1c.10318G>T (p.Val3440Phe)
c.3404G>T
c.7599G>T
c.4765G>T (p.Val1589Phe)
c.7644G>T
c.10699G>T (p.Val3567Phe)
c.853G>T (p.Val285Phe)
c.2055G>T
c.87G>T
c.1796G>T
c.4190G>T (n.4190G>T)
c.10573G>T (p.Val3525Phe)
n.4502G>T
c.10702G>T (p.Val3568Phe)
2g.73572577T>ACA347284926ALMS1c.10319T>A (p.Val3440Asp)
c.3405T>A
c.7600T>A
c.4766T>A (p.Val1589Asp)
c.7645T>A
c.10700T>A (p.Val3567Asp)
c.854T>A (p.Val285Asp)
c.2056T>A
c.88T>A
c.1797T>A
c.4191T>A (n.4191T>A)
c.10574T>A (p.Val3525Asp)
n.4503T>A
c.10703T>A (p.Val3568Asp)
2g.73572577T>CCA347284933ALMS1c.10319T>C (p.Val3440Ala)
c.3405T>C
c.7600T>C
c.4766T>C (p.Val1589Ala)
c.7645T>C
c.10700T>C (p.Val3567Ala)
c.854T>C (p.Val285Ala)
c.2056T>C
c.88T>C
c.1797T>C
c.4191T>C (n.4191T>C)
c.10574T>C (p.Val3525Ala)
n.4503T>C
c.10703T>C (p.Val3568Ala)
 dbSNP gnomAD v4
2g.73572577T>GCA347284930ALMS1c.10319T>G (p.Val3440Gly)
c.3405T>G
c.7600T>G
c.4766T>G (p.Val1589Gly)
c.7645T>G
c.10700T>G (p.Val3567Gly)
c.854T>G (p.Val285Gly)
c.2056T>G
c.88T>G
c.1797T>G
c.4191T>G (n.4191T>G)
c.10574T>G (p.Val3525Gly)
n.4503T>G
c.10703T>G (p.Val3568Gly)
2g.73572578T>ACA427024187ALMS1c.10320T>A (p.Val3440=)
c.3406T>A
c.7601T>A
c.4767T>A (p.Val1589=)
c.7646T>A
c.10701T>A (p.Val3567=)
c.855T>A (p.Val285=)
c.2057T>A
c.89T>A
c.1798T>A
c.4192T>A (n.4192T>A)
c.10575T>A (p.Val3525=)
n.4504T>A
c.10704T>A (p.Val3568=)
2g.73572578T>CCA427024189ALMS1c.10320T>C (p.Val3440=)
c.3406T>C
c.7601T>C
c.4767T>C (p.Val1589=)
c.7646T>C
c.10701T>C (p.Val3567=)
c.855T>C (p.Val285=)
c.2057T>C
c.89T>C
c.1798T>C
c.4192T>C (n.4192T>C)
c.10575T>C (p.Val3525=)
n.4504T>C
c.10704T>C (p.Val3568=)
 ClinVar dbSNP gnomAD v4
2g.73572578T>GCA427024190ALMS1c.10320T>G (p.Val3440=)
c.3406T>G
c.7601T>G
c.4767T>G (p.Val1589=)
c.7646T>G
c.10701T>G (p.Val3567=)
c.855T>G (p.Val285=)
c.2057T>G
c.89T>G
c.1798T>G
c.4192T>G (n.4192T>G)
c.10575T>G (p.Val3525=)
n.4504T>G
c.10704T>G (p.Val3568=)
2g.73572579A>CCA427024191ALMS1c.10321A>C (p.Arg3441=)
c.3407A>C
c.7602A>C
c.4768A>C (p.Arg1590=)
c.7647A>C
c.10702A>C (p.Arg3568=)
c.856A>C (p.Arg286=)
c.2058A>C
c.90A>C
c.1799A>C
c.4193A>C (n.4193A>C)
c.10576A>C (p.Arg3526=)
n.4505A>C
c.10705A>C (p.Arg3569=)
2g.73572579A>GCA347284937ALMS1c.10321A>G (p.Arg3441Gly)
c.3407A>G
c.7602A>G
c.4768A>G (p.Arg1590Gly)
c.7647A>G
c.10702A>G (p.Arg3568Gly)
c.856A>G (p.Arg286Gly)
c.2058A>G
c.90A>G
c.1799A>G
c.4193A>G (n.4193A>G)
c.10576A>G (p.Arg3526Gly)
n.4505A>G
c.10705A>G (p.Arg3569Gly)
2g.73572579A>TCA347284940ALMS1c.10321A>T (p.Arg3441Ter)
c.3407A>T
c.7602A>T
c.4768A>T (p.Arg1590Ter)
c.7647A>T
c.10702A>T (p.Arg3568Ter)
c.856A>T (p.Arg286Ter)
c.2058A>T
c.90A>T
c.1799A>T
c.4193A>T (n.4193A>T)
c.10576A>T (p.Arg3526Ter)
n.4505A>T
c.10705A>T (p.Arg3569Ter)
2g.73572580G>ACA347284943ALMS1c.10322G>A (p.Arg3441Lys)
c.3408G>A
c.7603G>A
c.4769G>A (p.Arg1590Lys)
c.7648G>A
c.10703G>A (p.Arg3568Lys)
c.857G>A (p.Arg286Lys)
c.2059G>A
c.91G>A
c.1800G>A
c.4194G>A (n.4194G>A)
c.10577G>A (p.Arg3526Lys)
n.4506G>A
c.10706G>A (p.Arg3569Lys)
2g.73572580G>CCA347284948ALMS1c.10322G>C (p.Arg3441Thr)
c.3408G>C
c.7603G>C
c.4769G>C (p.Arg1590Thr)
c.7648G>C
c.10703G>C (p.Arg3568Thr)
c.857G>C (p.Arg286Thr)
c.2059G>C
c.91G>C
c.1800G>C
c.4194G>C (n.4194G>C)
c.10577G>C (p.Arg3526Thr)
n.4506G>C
c.10706G>C (p.Arg3569Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73572580G=CA1261021322ALMS1c.10322G= (p.Arg3441=)
c.3408G=
c.7603G=
c.4769G= (p.Arg1590=)
c.7648G=
c.10703G= (p.Arg3568=)
c.857G= (p.Arg286=)
c.2059G=
c.91G=
c.1800G=
c.4194G= (n.4194G=)
c.10577G= (p.Arg3526=)
n.4506G=
c.10706G= (p.Arg3569=)
2g.73572580G>TCA347284953ALMS1c.10322G>T (p.Arg3441Ile)
c.3408G>T
c.7603G>T
c.4769G>T (p.Arg1590Ile)
c.7648G>T
c.10703G>T (p.Arg3568Ile)
c.857G>T (p.Arg286Ile)
c.2059G>T
c.91G>T
c.1800G>T
c.4194G>T (n.4194G>T)
c.10577G>T (p.Arg3526Ile)
n.4506G>T
c.10706G>T (p.Arg3569Ile)
2g.73572581A=CA1261021324ALMS1c.10323A= (p.Arg3441=)
c.3409A=
c.7604A=
c.4770A= (p.Arg1590=)
c.7649A=
c.10704A= (p.Arg3568=)
c.858A= (p.Arg286=)
c.2060A=
c.92A=
c.1801A=
c.4195A= (n.4195A=)
c.10578A= (p.Arg3526=)
n.4507A=
c.10707A= (p.Arg3569=)
2g.73572581A>CCA1715045ALMS1c.10323A>C (p.Arg3441Ser)
c.3409A>C
c.7604A>C
c.4770A>C (p.Arg1590Ser)
c.7649A>C
c.10704A>C (p.Arg3568Ser)
c.858A>C (p.Arg286Ser)
c.2060A>C
c.92A>C
c.1801A>C
c.4195A>C (n.4195A>C)
c.10578A>C (p.Arg3526Ser)
n.4507A>C
c.10707A>C (p.Arg3569Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572581A>GCA427024198ALMS1c.10323A>G (p.Arg3441=)
c.3409A>G
c.7604A>G
c.4770A>G (p.Arg1590=)
c.7649A>G
c.10704A>G (p.Arg3568=)
c.858A>G (p.Arg286=)
c.2060A>G
c.92A>G
c.1801A>G
c.4195A>G (n.4195A>G)
c.10578A>G (p.Arg3526=)
n.4507A>G
c.10707A>G (p.Arg3569=)
2g.73572581A>TCA347284961ALMS1c.10323A>T (p.Arg3441Ser)
c.3409A>T
c.7604A>T
c.4770A>T (p.Arg1590Ser)
c.7649A>T
c.10704A>T (p.Arg3568Ser)
c.858A>T (p.Arg286Ser)
c.2060A>T
c.92A>T
c.1801A>T
c.4195A>T (n.4195A>T)
c.10578A>T (p.Arg3526Ser)
n.4507A>T
c.10707A>T (p.Arg3569Ser)
2g.73572582G>ACA347284968ALMS1c.10324G>A (p.Asp3442Asn)
c.3410G>A
c.7605G>A
c.4771G>A (p.Asp1591Asn)
c.7650G>A
c.10705G>A (p.Asp3569Asn)
c.859G>A (p.Asp287Asn)
c.2061G>A
c.93G>A
c.1802G>A
c.4196G>A (n.4196G>A)
c.10579G>A (p.Asp3527Asn)
n.4508G>A
c.10708G>A (p.Asp3570Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.73572582G>CCA347284971ALMS1c.10324G>C (p.Asp3442His)
c.3410G>C
c.7605G>C
c.4771G>C (p.Asp1591His)
c.7650G>C
c.10705G>C (p.Asp3569His)
c.859G>C (p.Asp287His)
c.2061G>C
c.93G>C
c.1802G>C
c.4196G>C (n.4196G>C)
c.10579G>C (p.Asp3527His)
n.4508G>C
c.10708G>C (p.Asp3570His)
2g.73572582G=CA1261021328ALMS1c.10324G= (p.Asp3442=)
c.3410G=
c.7605G=
c.4771G= (p.Asp1591=)
c.7650G=
c.10705G= (p.Asp3569=)
c.859G= (p.Asp287=)
c.2061G=
c.93G=
c.1802G=
c.4196G= (n.4196G=)
c.10579G= (p.Asp3527=)
n.4508G=
c.10708G= (p.Asp3570=)
2g.73572582G>TCA347284976ALMS1c.10324G>T (p.Asp3442Tyr)
c.3410G>T
c.7605G>T
c.4771G>T (p.Asp1591Tyr)
c.7650G>T
c.10705G>T (p.Asp3569Tyr)
c.859G>T (p.Asp287Tyr)
c.2061G>T
c.93G>T
c.1802G>T
c.4196G>T (n.4196G>T)
c.10579G>T (p.Asp3527Tyr)
n.4508G>T
c.10708G>T (p.Asp3570Tyr)
2g.73572583A>CCA347284980ALMS1c.10325A>C (p.Asp3442Ala)
c.3411A>C
c.7606A>C
c.4772A>C (p.Asp1591Ala)
c.7651A>C
c.10706A>C (p.Asp3569Ala)
c.860A>C (p.Asp287Ala)
c.2062A>C
c.94A>C
c.1803A>C
c.4197A>C (n.4197A>C)
c.10580A>C (p.Asp3527Ala)
n.4509A>C
c.10709A>C (p.Asp3570Ala)
2g.73572583A>GCA347284985ALMS1c.10325A>G (p.Asp3442Gly)
c.3411A>G
c.7606A>G
c.4772A>G (p.Asp1591Gly)
c.7651A>G
c.10706A>G (p.Asp3569Gly)
c.860A>G (p.Asp287Gly)
c.2062A>G
c.94A>G
c.1803A>G
c.4197A>G (n.4197A>G)
c.10580A>G (p.Asp3527Gly)
n.4509A>G
c.10709A>G (p.Asp3570Gly)
 gnomAD v4
2g.73572583A>TCA347284987ALMS1c.10325A>T (p.Asp3442Val)
c.3411A>T
c.7606A>T
c.4772A>T (p.Asp1591Val)
c.7651A>T
c.10706A>T (p.Asp3569Val)
c.860A>T (p.Asp287Val)
c.2062A>T
c.94A>T
c.1803A>T
c.4197A>T (n.4197A>T)
c.10580A>T (p.Asp3527Val)
n.4509A>T
c.10709A>T (p.Asp3570Val)
2g.73572584T>ACA347284999ALMS1c.10326T>A (p.Asp3442Glu)
c.3412T>A
c.7607T>A
c.4773T>A (p.Asp1591Glu)
c.7652T>A
c.10707T>A (p.Asp3569Glu)
c.861T>A (p.Asp287Glu)
c.2063T>A
c.95T>A
c.1804T>A
c.4198T>A (n.4198T>A)
c.10581T>A (p.Asp3527Glu)
n.4510T>A
c.10710T>A (p.Asp3570Glu)
2g.73572584T>CCA427024204ALMS1c.10326T>C (p.Asp3442=)
c.3412T>C
c.7607T>C
c.4773T>C (p.Asp1591=)
c.7652T>C
c.10707T>C (p.Asp3569=)
c.861T>C (p.Asp287=)
c.2063T>C
c.95T>C
c.1804T>C
c.4198T>C (n.4198T>C)
c.10581T>C (p.Asp3527=)
n.4510T>C
c.10710T>C (p.Asp3570=)
2g.73572584T>GCA347284994ALMS1c.10326T>G (p.Asp3442Glu)
c.3412T>G
c.7607T>G
c.4773T>G (p.Asp1591Glu)
c.7652T>G
c.10707T>G (p.Asp3569Glu)
c.861T>G (p.Asp287Glu)
c.2063T>G
c.95T>G
c.1804T>G
c.4198T>G (n.4198T>G)
c.10581T>G (p.Asp3527Glu)
n.4510T>G
c.10710T>G (p.Asp3570Glu)
2g.73572585T>ACA347285004ALMS1c.10327T>A (p.Tyr3443Asn)
c.3413T>A
c.7608T>A
c.4774T>A (p.Tyr1592Asn)
c.7653T>A
c.10708T>A (p.Tyr3570Asn)
c.862T>A (p.Tyr288Asn)
c.2064T>A
c.96T>A
c.1805T>A
c.4199T>A (n.4199T>A)
c.10582T>A (p.Tyr3528Asn)
n.4511T>A
c.10711T>A (p.Tyr3571Asn)
2g.73572585T>CCA347285006ALMS1c.10327T>C (p.Tyr3443His)
c.3413T>C
c.7608T>C
c.4774T>C (p.Tyr1592His)
c.7653T>C
c.10708T>C (p.Tyr3570His)
c.862T>C (p.Tyr288His)
c.2064T>C
c.96T>C
c.1805T>C
c.4199T>C (n.4199T>C)
c.10582T>C (p.Tyr3528His)
n.4511T>C
c.10711T>C (p.Tyr3571His)
2g.73572585T>GCA347285010ALMS1c.10327T>G (p.Tyr3443Asp)
c.3413T>G
c.7608T>G
c.4774T>G (p.Tyr1592Asp)
c.7653T>G
c.10708T>G (p.Tyr3570Asp)
c.862T>G (p.Tyr288Asp)
c.2064T>G
c.96T>G
c.1805T>G
c.4199T>G (n.4199T>G)
c.10582T>G (p.Tyr3528Asp)
n.4511T>G
c.10711T>G (p.Tyr3571Asp)
2g.73572586A>CCA347285016ALMS1c.10328A>C (p.Tyr3443Ser)
c.3414A>C
c.7609A>C
c.4775A>C (p.Tyr1592Ser)
c.7654A>C
c.10709A>C (p.Tyr3570Ser)
c.863A>C (p.Tyr288Ser)
c.2065A>C
c.97A>C
c.1806A>C
c.4200A>C (n.4200A>C)
c.10583A>C (p.Tyr3528Ser)
n.4512A>C
c.10712A>C (p.Tyr3571Ser)
2g.73572586A>GCA347285019ALMS1c.10328A>G (p.Tyr3443Cys)
c.3414A>G
c.7609A>G
c.4775A>G (p.Tyr1592Cys)
c.7654A>G
c.10709A>G (p.Tyr3570Cys)
c.863A>G (p.Tyr288Cys)
c.2065A>G
c.97A>G
c.1806A>G
c.4200A>G (n.4200A>G)
c.10583A>G (p.Tyr3528Cys)
n.4512A>G
c.10712A>G (p.Tyr3571Cys)
 ClinVar dbSNP gnomAD v4
2g.73572586A>TCA347285021ALMS1c.10328A>T (p.Tyr3443Phe)
c.3414A>T
c.7609A>T
c.4775A>T (p.Tyr1592Phe)
c.7654A>T
c.10709A>T (p.Tyr3570Phe)
c.863A>T (p.Tyr288Phe)
c.2065A>T
c.97A>T
c.1806A>T
c.4200A>T (n.4200A>T)
c.10583A>T (p.Tyr3528Phe)
n.4512A>T
c.10712A>T (p.Tyr3571Phe)

Number of alleles fetched