Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73572587T>ACA347285025ALMS1c.10329T>A (p.Tyr3443Ter)
c.3415T>A
c.7610T>A
c.4776T>A (p.Tyr1592Ter)
c.7655T>A
c.10710T>A (p.Tyr3570Ter)
c.864T>A (p.Tyr288Ter)
c.2066T>A
c.98T>A
c.1807T>A
c.4201T>A (n.4201T>A)
c.10584T>A (p.Tyr3528Ter)
n.4513T>A
c.10713T>A (p.Tyr3571Ter)
2g.73572587T>CCA427024212ALMS1c.10329T>C (p.Tyr3443=)
c.3415T>C
c.7610T>C
c.4776T>C (p.Tyr1592=)
c.7655T>C
c.10710T>C (p.Tyr3570=)
c.864T>C (p.Tyr288=)
c.2066T>C
c.98T>C
c.1807T>C
c.4201T>C (n.4201T>C)
c.10584T>C (p.Tyr3528=)
n.4513T>C
c.10713T>C (p.Tyr3571=)
2g.73572587T>GCA347285026ALMS1c.10329T>G (p.Tyr3443Ter)
c.3415T>G
c.7610T>G
c.4776T>G (p.Tyr1592Ter)
c.7655T>G
c.10710T>G (p.Tyr3570Ter)
c.864T>G (p.Tyr288Ter)
c.2066T>G
c.98T>G
c.1807T>G
c.4201T>G (n.4201T>G)
c.10584T>G (p.Tyr3528Ter)
n.4513T>G
c.10713T>G (p.Tyr3571Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.73572587T=CA1261021330ALMS1c.10329T= (p.Tyr3443=)
c.3415T=
c.7610T=
c.4776T= (p.Tyr1592=)
c.7655T=
c.10710T= (p.Tyr3570=)
c.864T= (p.Tyr288=)
c.2066T=
c.98T=
c.1807T=
c.4201T= (n.4201T=)
c.10584T= (p.Tyr3528=)
n.4513T=
c.10713T= (p.Tyr3571=)
2g.73572588C>ACA347285029ALMS1c.10330C>A (p.Pro3444Thr)
c.3416C>A
c.7611C>A
c.4777C>A (p.Pro1593Thr)
c.7656C>A
c.10711C>A (p.Pro3571Thr)
c.865C>A (p.Pro289Thr)
c.2067C>A
c.99C>A
c.1808C>A
c.4202C>A (n.4202C>A)
c.10585C>A (p.Pro3529Thr)
n.4514C>A
c.10714C>A (p.Pro3572Thr)
2g.73572588C>GCA347285031ALMS1c.10330C>G (p.Pro3444Ala)
c.3416C>G
c.7611C>G
c.4777C>G (p.Pro1593Ala)
c.7656C>G
c.10711C>G (p.Pro3571Ala)
c.865C>G (p.Pro289Ala)
c.2067C>G
c.99C>G
c.1808C>G
c.4202C>G (n.4202C>G)
c.10585C>G (p.Pro3529Ala)
n.4514C>G
c.10714C>G (p.Pro3572Ala)
2g.73572588C>TCA347285033ALMS1c.10330C>T (p.Pro3444Ser)
c.3416C>T
c.7611C>T
c.4777C>T (p.Pro1593Ser)
c.7656C>T
c.10711C>T (p.Pro3571Ser)
c.865C>T (p.Pro289Ser)
c.2067C>T
c.99C>T
c.1808C>T
c.4202C>T (n.4202C>T)
c.10585C>T (p.Pro3529Ser)
n.4514C>T
c.10714C>T (p.Pro3572Ser)
2g.73572589C>ACA347285039ALMS1c.10331C>A (p.Pro3444Gln)
c.3417C>A
c.7612C>A
c.4778C>A (p.Pro1593Gln)
c.7657C>A
c.10712C>A (p.Pro3571Gln)
c.866C>A (p.Pro289Gln)
c.2068C>A
c.100C>A
c.1809C>A
c.4203C>A (n.4203C>A)
c.10586C>A (p.Pro3529Gln)
n.4515C>A
c.10715C>A (p.Pro3572Gln)
2g.73572589C=CA1261021336ALMS1c.10331C= (p.Pro3444=)
c.3417C=
c.7612C=
c.4778C= (p.Pro1593=)
c.7657C=
c.10712C= (p.Pro3571=)
c.866C= (p.Pro289=)
c.2068C=
c.100C=
c.1809C=
c.4203C= (n.4203C=)
c.10586C= (p.Pro3529=)
n.4515C=
c.10715C= (p.Pro3572=)
2g.73572589C>GCA347285042ALMS1c.10331C>G (p.Pro3444Arg)
c.3417C>G
c.7612C>G
c.4778C>G (p.Pro1593Arg)
c.7657C>G
c.10712C>G (p.Pro3571Arg)
c.866C>G (p.Pro289Arg)
c.2068C>G
c.100C>G
c.1809C>G
c.4203C>G (n.4203C>G)
c.10586C>G (p.Pro3529Arg)
n.4515C>G
c.10715C>G (p.Pro3572Arg)
 gnomAD v4
2g.73572589C>TCA347285037ALMS1c.10331C>T (p.Pro3444Leu)
c.3417C>T
c.7612C>T
c.4778C>T (p.Pro1593Leu)
c.7657C>T
c.10712C>T (p.Pro3571Leu)
c.866C>T (p.Pro289Leu)
c.2068C>T
c.100C>T
c.1809C>T
c.4203C>T (n.4203C>T)
c.10586C>T (p.Pro3529Leu)
n.4515C>T
c.10715C>T (p.Pro3572Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572590A>CCA427024221ALMS1c.10332A>C (p.Pro3444=)
c.3418A>C
c.7613A>C
c.4779A>C (p.Pro1593=)
c.7658A>C
c.10713A>C (p.Pro3571=)
c.867A>C (p.Pro289=)
c.2069A>C
c.101A>C
c.1810A>C
c.4204A>C (n.4204A>C)
c.10587A>C (p.Pro3529=)
n.4516A>C
c.10716A>C (p.Pro3572=)
2g.73572590A>GCA427024218ALMS1c.10332A>G (p.Pro3444=)
c.3418A>G
c.7613A>G
c.4779A>G (p.Pro1593=)
c.7658A>G
c.10713A>G (p.Pro3571=)
c.867A>G (p.Pro289=)
c.2069A>G
c.101A>G
c.1810A>G
c.4204A>G (n.4204A>G)
c.10587A>G (p.Pro3529=)
n.4516A>G
c.10716A>G (p.Pro3572=)
2g.73572590A>TCA427024216ALMS1c.10332A>T (p.Pro3444=)
c.3418A>T
c.7613A>T
c.4779A>T (p.Pro1593=)
c.7658A>T
c.10713A>T (p.Pro3571=)
c.867A>T (p.Pro289=)
c.2069A>T
c.101A>T
c.1810A>T
c.4204A>T (n.4204A>T)
c.10587A>T (p.Pro3529=)
n.4516A>T
c.10716A>T (p.Pro3572=)
2g.73572591A>CCA347285044ALMS1c.10333A>C (p.Lys3445Gln)
c.3419A>C
c.7614A>C
c.4780A>C (p.Lys1594Gln)
c.7659A>C
c.10714A>C (p.Lys3572Gln)
c.868A>C (p.Lys290Gln)
c.2070A>C
c.102A>C
c.1811A>C
c.4205A>C (n.4205A>C)
c.10588A>C (p.Lys3530Gln)
n.4517A>C
c.10717A>C (p.Lys3573Gln)
2g.73572591A>GCA347285047ALMS1c.10333A>G (p.Lys3445Glu)
c.3419A>G
c.7614A>G
c.4780A>G (p.Lys1594Glu)
c.7659A>G
c.10714A>G (p.Lys3572Glu)
c.868A>G (p.Lys290Glu)
c.2070A>G
c.102A>G
c.1811A>G
c.4205A>G (n.4205A>G)
c.10588A>G (p.Lys3530Glu)
n.4517A>G
c.10717A>G (p.Lys3573Glu)
 dbSNP
2g.73572591A>TCA347285049ALMS1c.10333A>T (p.Lys3445Ter)
c.3419A>T
c.7614A>T
c.4780A>T (p.Lys1594Ter)
c.7659A>T
c.10714A>T (p.Lys3572Ter)
c.868A>T (p.Lys290Ter)
c.2070A>T
c.102A>T
c.1811A>T
c.4205A>T (n.4205A>T)
c.10588A>T (p.Lys3530Ter)
n.4517A>T
c.10717A>T (p.Lys3573Ter)
2g.73572592A=CA1261021340ALMS1c.10334A= (p.Lys3445=)
c.3420A=
c.7615A=
c.4781A= (p.Lys1594=)
c.7660A=
c.10715A= (p.Lys3572=)
c.869A= (p.Lys290=)
c.2071A=
c.103A=
c.1812A=
c.4206A= (n.4206A=)
c.10589A= (p.Lys3530=)
n.4518A=
c.10718A= (p.Lys3573=)
2g.73572592A>CCA347285051ALMS1c.10334A>C (p.Lys3445Thr)
c.3420A>C
c.7615A>C
c.4781A>C (p.Lys1594Thr)
c.7660A>C
c.10715A>C (p.Lys3572Thr)
c.869A>C (p.Lys290Thr)
c.2071A>C
c.103A>C
c.1812A>C
c.4206A>C (n.4206A>C)
c.10589A>C (p.Lys3530Thr)
n.4518A>C
c.10718A>C (p.Lys3573Thr)
2g.73572592A>GCA1715046ALMS1c.10334A>G (p.Lys3445Arg)
c.3420A>G
c.7615A>G
c.4781A>G (p.Lys1594Arg)
c.7660A>G
c.10715A>G (p.Lys3572Arg)
c.869A>G (p.Lys290Arg)
c.2071A>G
c.103A>G
c.1812A>G
c.4206A>G (n.4206A>G)
c.10589A>G (p.Lys3530Arg)
n.4518A>G
c.10718A>G (p.Lys3573Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572592A>TCA347285054ALMS1c.10334A>T (p.Lys3445Ile)
c.3420A>T
c.7615A>T
c.4781A>T (p.Lys1594Ile)
c.7660A>T
c.10715A>T (p.Lys3572Ile)
c.869A>T (p.Lys290Ile)
c.2071A>T
c.103A>T
c.1812A>T
c.4206A>T (n.4206A>T)
c.10589A>T (p.Lys3530Ile)
n.4518A>T
c.10718A>T (p.Lys3573Ile)
2g.73572593A>CCA347285056ALMS1c.10335A>C (p.Lys3445Asn)
c.3421A>C
c.7616A>C
c.4782A>C (p.Lys1594Asn)
c.7661A>C
c.10716A>C (p.Lys3572Asn)
c.870A>C (p.Lys290Asn)
c.2072A>C
c.104A>C
c.1813A>C
c.4207A>C (n.4207A>C)
c.10590A>C (p.Lys3530Asn)
n.4519A>C
c.10719A>C (p.Lys3573Asn)
2g.73572593A>GCA427024226ALMS1c.10335A>G (p.Lys3445=)
c.3421A>G
c.7616A>G
c.4782A>G (p.Lys1594=)
c.7661A>G
c.10716A>G (p.Lys3572=)
c.870A>G (p.Lys290=)
c.2072A>G
c.104A>G
c.1813A>G
c.4207A>G (n.4207A>G)
c.10590A>G (p.Lys3530=)
n.4519A>G
c.10719A>G (p.Lys3573=)
 ClinVar dbSNP gnomAD v4
2g.73572593A>TCA347285057ALMS1c.10335A>T (p.Lys3445Asn)
c.3421A>T
c.7616A>T
c.4782A>T (p.Lys1594Asn)
c.7661A>T
c.10716A>T (p.Lys3572Asn)
c.870A>T (p.Lys290Asn)
c.2072A>T
c.104A>T
c.1813A>T
c.4207A>T (n.4207A>T)
c.10590A>T (p.Lys3530Asn)
n.4519A>T
c.10719A>T (p.Lys3573Asn)
2g.73572594C>ACA347285061ALMS1c.10336C>A (p.His3446Asn)
c.3422C>A
c.7617C>A
c.4783C>A (p.His1595Asn)
c.7662C>A
c.10717C>A (p.His3573Asn)
c.871C>A (p.His291Asn)
c.2073C>A
c.105C>A
c.1814C>A
c.4208C>A (n.4208C>A)
c.10591C>A (p.His3531Asn)
n.4520C>A
c.10720C>A (p.His3574Asn)
2g.73572594C>GCA347285062ALMS1c.10336C>G (p.His3446Asp)
c.3422C>G
c.7617C>G
c.4783C>G (p.His1595Asp)
c.7662C>G
c.10717C>G (p.His3573Asp)
c.871C>G (p.His291Asp)
c.2073C>G
c.105C>G
c.1814C>G
c.4208C>G (n.4208C>G)
c.10591C>G (p.His3531Asp)
n.4520C>G
c.10720C>G (p.His3574Asp)
2g.73572594C>TCA347285064ALMS1c.10336C>T (p.His3446Tyr)
c.3422C>T
c.7617C>T
c.4783C>T (p.His1595Tyr)
c.7662C>T
c.10717C>T (p.His3573Tyr)
c.871C>T (p.His291Tyr)
c.2073C>T
c.105C>T
c.1814C>T
c.4208C>T (n.4208C>T)
c.10591C>T (p.His3531Tyr)
n.4520C>T
c.10720C>T (p.His3574Tyr)
2g.73572595A=CA1261021346ALMS1c.10337A= (p.His3446=)
c.3423A=
c.7618A=
c.4784A= (p.His1595=)
c.7663A=
c.10718A= (p.His3573=)
c.872A= (p.His291=)
c.2074A=
c.106A=
c.1815A=
c.4209A= (n.4209A=)
c.10592A= (p.His3531=)
n.4521A=
c.10721A= (p.His3574=)
2g.73572595A>CCA347285069ALMS1c.10337A>C (p.His3446Pro)
c.3423A>C
c.7618A>C
c.4784A>C (p.His1595Pro)
c.7663A>C
c.10718A>C (p.His3573Pro)
c.872A>C (p.His291Pro)
c.2074A>C
c.106A>C
c.1815A>C
c.4209A>C (n.4209A>C)
c.10592A>C (p.His3531Pro)
n.4521A>C
c.10721A>C (p.His3574Pro)
2g.73572595A>GCA347285068ALMS1c.10337A>G (p.His3446Arg)
c.3423A>G
c.7618A>G
c.4784A>G (p.His1595Arg)
c.7663A>G
c.10718A>G (p.His3573Arg)
c.872A>G (p.His291Arg)
c.2074A>G
c.106A>G
c.1815A>G
c.4209A>G (n.4209A>G)
c.10592A>G (p.His3531Arg)
n.4521A>G
c.10721A>G (p.His3574Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.73572595A>TCA347285066ALMS1c.10337A>T (p.His3446Leu)
c.3423A>T
c.7618A>T
c.4784A>T (p.His1595Leu)
c.7663A>T
c.10718A>T (p.His3573Leu)
c.872A>T (p.His291Leu)
c.2074A>T
c.106A>T
c.1815A>T
c.4209A>T (n.4209A>T)
c.10592A>T (p.His3531Leu)
n.4521A>T
c.10721A>T (p.His3574Leu)
2g.73572596T>ACA347285075ALMS1c.10338T>A (p.His3446Gln)
c.3424T>A
c.7619T>A
c.4785T>A (p.His1595Gln)
c.7664T>A
c.10719T>A (p.His3573Gln)
c.873T>A (p.His291Gln)
c.2075T>A
c.107T>A
c.1816T>A
c.4210T>A (n.4210T>A)
c.10593T>A (p.His3531Gln)
n.4522T>A
c.10722T>A (p.His3574Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572596T>CCA427024228ALMS1c.10338T>C (p.His3446=)
c.3424T>C
c.7619T>C
c.4785T>C (p.His1595=)
c.7664T>C
c.10719T>C (p.His3573=)
c.873T>C (p.His291=)
c.2075T>C
c.107T>C
c.1816T>C
c.4210T>C (n.4210T>C)
c.10593T>C (p.His3531=)
n.4522T>C
c.10722T>C (p.His3574=)
2g.73572596T>GCA347285076ALMS1c.10338T>G (p.His3446Gln)
c.3424T>G
c.7619T>G
c.4785T>G (p.His1595Gln)
c.7664T>G
c.10719T>G (p.His3573Gln)
c.873T>G (p.His291Gln)
c.2075T>G
c.107T>G
c.1816T>G
c.4210T>G (n.4210T>G)
c.10593T>G (p.His3531Gln)
n.4522T>G
c.10722T>G (p.His3574Gln)
2g.73572596T=CA1261021350ALMS1c.10338T= (p.His3446=)
c.3424T=
c.7619T=
c.4785T= (p.His1595=)
c.7664T=
c.10719T= (p.His3573=)
c.873T= (p.His291=)
c.2075T=
c.107T=
c.1816T=
c.4210T= (n.4210T=)
c.10593T= (p.His3531=)
n.4522T=
c.10722T= (p.His3574=)
2g.73572597A>CCA347285080ALMS1c.10339A>C (p.Asn3447His)
c.3425A>C
c.7620A>C
c.4786A>C (p.Asn1596His)
c.7665A>C
c.10720A>C (p.Asn3574His)
c.874A>C (p.Asn292His)
c.2076A>C
c.108A>C
c.1817A>C
c.4211A>C (n.4211A>C)
c.10594A>C (p.Asn3532His)
n.4523A>C
c.10723A>C (p.Asn3575His)
2g.73572597A>GCA347285081ALMS1c.10339A>G (p.Asn3447Asp)
c.3425A>G
c.7620A>G
c.4786A>G (p.Asn1596Asp)
c.7665A>G
c.10720A>G (p.Asn3574Asp)
c.874A>G (p.Asn292Asp)
c.2076A>G
c.108A>G
c.1817A>G
c.4211A>G (n.4211A>G)
c.10594A>G (p.Asn3532Asp)
n.4523A>G
c.10723A>G (p.Asn3575Asp)
 gnomAD v4
2g.73572597A>TCA347285084ALMS1c.10339A>T (p.Asn3447Tyr)
c.3425A>T
c.7620A>T
c.4786A>T (p.Asn1596Tyr)
c.7665A>T
c.10720A>T (p.Asn3574Tyr)
c.874A>T (p.Asn292Tyr)
c.2076A>T
c.108A>T
c.1817A>T
c.4211A>T (n.4211A>T)
c.10594A>T (p.Asn3532Tyr)
n.4523A>T
c.10723A>T (p.Asn3575Tyr)
2g.73572598A=CA1261021353ALMS1c.10340A= (p.Asn3447=)
c.3426A=
c.7621A=
c.4787A= (p.Asn1596=)
c.7666A=
c.10721A= (p.Asn3574=)
c.875A= (p.Asn292=)
c.2077A=
c.109A=
c.1818A=
c.4212A= (n.4212A=)
c.10595A= (p.Asn3532=)
n.4524A=
c.10724A= (p.Asn3575=)
2g.73572598A>CCA347285087ALMS1c.10340A>C (p.Asn3447Thr)
c.3426A>C
c.7621A>C
c.4787A>C (p.Asn1596Thr)
c.7666A>C
c.10721A>C (p.Asn3574Thr)
c.875A>C (p.Asn292Thr)
c.2077A>C
c.109A>C
c.1818A>C
c.4212A>C (n.4212A>C)
c.10595A>C (p.Asn3532Thr)
n.4524A>C
c.10724A>C (p.Asn3575Thr)
2g.73572598A>GCA50386387ALMS1c.10340A>G (p.Asn3447Ser)
c.3426A>G
c.7621A>G
c.4787A>G (p.Asn1596Ser)
c.7666A>G
c.10721A>G (p.Asn3574Ser)
c.875A>G (p.Asn292Ser)
c.2077A>G
c.109A>G
c.1818A>G
c.4212A>G (n.4212A>G)
c.10595A>G (p.Asn3532Ser)
n.4524A>G
c.10724A>G (p.Asn3575Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572598A>TCA347285091ALMS1c.10340A>T (p.Asn3447Ile)
c.3426A>T
c.7621A>T
c.4787A>T (p.Asn1596Ile)
c.7666A>T
c.10721A>T (p.Asn3574Ile)
c.875A>T (p.Asn292Ile)
c.2077A>T
c.109A>T
c.1818A>T
c.4212A>T (n.4212A>T)
c.10595A>T (p.Asn3532Ile)
n.4524A>T
c.10724A>T (p.Asn3575Ile)
2g.73572599T>ACA347285095ALMS1c.10341T>A (p.Asn3447Lys)
c.3427T>A
c.7622T>A
c.4788T>A (p.Asn1596Lys)
c.7667T>A
c.10722T>A (p.Asn3574Lys)
c.876T>A (p.Asn292Lys)
c.2078T>A
c.110T>A
c.1819T>A
c.4213T>A (n.4213T>A)
c.10596T>A (p.Asn3532Lys)
n.4525T>A
c.10725T>A (p.Asn3575Lys)
2g.73572599T>CCA427024230ALMS1c.10341T>C (p.Asn3447=)
c.3427T>C
c.7622T>C
c.4788T>C (p.Asn1596=)
c.7667T>C
c.10722T>C (p.Asn3574=)
c.876T>C (p.Asn292=)
c.2078T>C
c.110T>C
c.1819T>C
c.4213T>C (n.4213T>C)
c.10596T>C (p.Asn3532=)
n.4525T>C
c.10725T>C (p.Asn3575=)
2g.73572599T>GCA347285097ALMS1c.10341T>G (p.Asn3447Lys)
c.3427T>G
c.7622T>G
c.4788T>G (p.Asn1596Lys)
c.7667T>G
c.10722T>G (p.Asn3574Lys)
c.876T>G (p.Asn292Lys)
c.2078T>G
c.110T>G
c.1819T>G
c.4213T>G (n.4213T>G)
c.10596T>G (p.Asn3532Lys)
n.4525T>G
c.10725T>G (p.Asn3575Lys)
2g.73572600G>ACA1715047ALMS1c.10342G>A (p.Gly3448Arg)
c.3428G>A
c.7623G>A
c.4789G>A (p.Gly1597Arg)
c.7668G>A
c.10723G>A (p.Gly3575Arg)
c.877G>A (p.Gly293Arg)
c.2079G>A
c.111G>A
c.1820G>A
c.4214G>A (n.4214G>A)
c.10597G>A (p.Gly3533Arg)
n.4526G>A
c.10726G>A (p.Gly3576Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572600G>CCA347285100ALMS1c.10342G>C (p.Gly3448Arg)
c.3428G>C
c.7623G>C
c.4789G>C (p.Gly1597Arg)
c.7668G>C
c.10723G>C (p.Gly3575Arg)
c.877G>C (p.Gly293Arg)
c.2079G>C
c.111G>C
c.1820G>C
c.4214G>C (n.4214G>C)
c.10597G>C (p.Gly3533Arg)
n.4526G>C
c.10726G>C (p.Gly3576Arg)
2g.73572600G=CA1261021362ALMS1c.10342G= (p.Gly3448=)
c.3428G=
c.7623G=
c.4789G= (p.Gly1597=)
c.7668G=
c.10723G= (p.Gly3575=)
c.877G= (p.Gly293=)
c.2079G=
c.111G=
c.1820G=
c.4214G= (n.4214G=)
c.10597G= (p.Gly3533=)
n.4526G=
c.10726G= (p.Gly3576=)
2g.73572600G>TCA347285102ALMS1c.10342G>T (p.Gly3448Ter)
c.3428G>T
c.7623G>T
c.4789G>T (p.Gly1597Ter)
c.7668G>T
c.10723G>T (p.Gly3575Ter)
c.877G>T (p.Gly293Ter)
c.2079G>T
c.111G>T
c.1820G>T
c.4214G>T (n.4214G>T)
c.10597G>T (p.Gly3533Ter)
n.4526G>T
c.10726G>T (p.Gly3576Ter)
2g.73572601G>ACA1715048ALMS1c.10343G>A (p.Gly3448Glu)
c.3429G>A
c.7624G>A
c.4790G>A (p.Gly1597Glu)
c.7669G>A
c.10724G>A (p.Gly3575Glu)
c.878G>A (p.Gly293Glu)
c.2080G>A
c.112G>A
c.1821G>A
c.4215G>A (n.4215G>A)
c.10598G>A (p.Gly3533Glu)
n.4527G>A
c.10727G>A (p.Gly3576Glu)
 dbSNP ExAC gnomAD v4
2g.73572601G>CCA347285112ALMS1c.10343G>C (p.Gly3448Ala)
c.3429G>C
c.7624G>C
c.4790G>C (p.Gly1597Ala)
c.7669G>C
c.10724G>C (p.Gly3575Ala)
c.878G>C (p.Gly293Ala)
c.2080G>C
c.112G>C
c.1821G>C
c.4215G>C (n.4215G>C)
c.10598G>C (p.Gly3533Ala)
n.4527G>C
c.10727G>C (p.Gly3576Ala)
 dbSNP
2g.73572601G=CA1261021370ALMS1c.10343G= (p.Gly3448=)
c.3429G=
c.7624G=
c.4790G= (p.Gly1597=)
c.7669G=
c.10724G= (p.Gly3575=)
c.878G= (p.Gly293=)
c.2080G=
c.112G=
c.1821G=
c.4215G= (n.4215G=)
c.10598G= (p.Gly3533=)
n.4527G=
c.10727G= (p.Gly3576=)
2g.73572601G>TCA347285108ALMS1c.10343G>T (p.Gly3448Val)
c.3429G>T
c.7624G>T
c.4790G>T (p.Gly1597Val)
c.7669G>T
c.10724G>T (p.Gly3575Val)
c.878G>T (p.Gly293Val)
c.2080G>T
c.112G>T
c.1821G>T
c.4215G>T (n.4215G>T)
c.10598G>T (p.Gly3533Val)
n.4527G>T
c.10727G>T (p.Gly3576Val)
2g.73572602A>CCA427024232ALMS1c.10344A>C (p.Gly3448=)
c.3430A>C
c.7625A>C
c.4791A>C (p.Gly1597=)
c.7670A>C
c.10725A>C (p.Gly3575=)
c.879A>C (p.Gly293=)
c.2081A>C
c.113A>C
c.1822A>C
c.4216A>C (n.4216A>C)
c.10599A>C (p.Gly3533=)
n.4528A>C
c.10728A>C (p.Gly3576=)
2g.73572602A>GCA427024233ALMS1c.10344A>G (p.Gly3448=)
c.3430A>G
c.7625A>G
c.4791A>G (p.Gly1597=)
c.7670A>G
c.10725A>G (p.Gly3575=)
c.879A>G (p.Gly293=)
c.2081A>G
c.113A>G
c.1822A>G
c.4216A>G (n.4216A>G)
c.10599A>G (p.Gly3533=)
n.4528A>G
c.10728A>G (p.Gly3576=)
2g.73572602A>TCA427024234ALMS1c.10344A>T (p.Gly3448=)
c.3430A>T
c.7625A>T
c.4791A>T (p.Gly1597=)
c.7670A>T
c.10725A>T (p.Gly3575=)
c.879A>T (p.Gly293=)
c.2081A>T
c.113A>T
c.1822A>T
c.4216A>T (n.4216A>T)
c.10599A>T (p.Gly3533=)
n.4528A>T
c.10728A>T (p.Gly3576=)
2g.73572603C>ACA347285120ALMS1c.10345C>A (p.Gln3449Lys)
c.3431C>A
c.7626C>A
c.4792C>A (p.Gln1598Lys)
c.7671C>A
c.10726C>A (p.Gln3576Lys)
c.880C>A (p.Gln294Lys)
c.2082C>A
c.114C>A
c.1823C>A
c.4217C>A (n.4217C>A)
c.10600C>A (p.Gln3534Lys)
n.4529C>A
c.10729C>A (p.Gln3577Lys)
 gnomAD v4
2g.73572603C=CA1261021375ALMS1c.10345C= (p.Gln3449=)
c.3431C=
c.7626C=
c.4792C= (p.Gln1598=)
c.7671C=
c.10726C= (p.Gln3576=)
c.880C= (p.Gln294=)
c.2082C=
c.114C=
c.1823C=
c.4217C= (n.4217C=)
c.10600C= (p.Gln3534=)
n.4529C=
c.10729C= (p.Gln3577=)
2g.73572603C>GCA347285115ALMS1c.10345C>G (p.Gln3449Glu)
c.3431C>G
c.7626C>G
c.4792C>G (p.Gln1598Glu)
c.7671C>G
c.10726C>G (p.Gln3576Glu)
c.880C>G (p.Gln294Glu)
c.2082C>G
c.114C>G
c.1823C>G
c.4217C>G (n.4217C>G)
c.10600C>G (p.Gln3534Glu)
n.4529C>G
c.10729C>G (p.Gln3577Glu)
 gnomAD v4
2g.73572603C>TCA347285118ALMS1c.10345C>T (p.Gln3449Ter)
c.3431C>T
c.7626C>T
c.4792C>T (p.Gln1598Ter)
c.7671C>T
c.10726C>T (p.Gln3576Ter)
c.880C>T (p.Gln294Ter)
c.2082C>T
c.114C>T
c.1823C>T
c.4217C>T (n.4217C>T)
c.10600C>T (p.Gln3534Ter)
n.4529C>T
c.10729C>T (p.Gln3577Ter)
 dbSNP gnomAD v2
2g.73572604A=CA1261021380ALMS1c.10346A= (p.Gln3449=)
c.3432A=
c.7627A=
c.4793A= (p.Gln1598=)
c.7672A=
c.10727A= (p.Gln3576=)
c.881A= (p.Gln294=)
c.2083A=
c.115A=
c.1824A=
c.4218A= (n.4218A=)
c.10601A= (p.Gln3534=)
n.4530A=
c.10730A= (p.Gln3577=)
2g.73572604A>CCA347285124ALMS1c.10346A>C (p.Gln3449Pro)
c.3432A>C
c.7627A>C
c.4793A>C (p.Gln1598Pro)
c.7672A>C
c.10727A>C (p.Gln3576Pro)
c.881A>C (p.Gln294Pro)
c.2083A>C
c.115A>C
c.1824A>C
c.4218A>C (n.4218A>C)
c.10601A>C (p.Gln3534Pro)
n.4530A>C
c.10730A>C (p.Gln3577Pro)
2g.73572604A>GCA347285125ALMS1c.10346A>G (p.Gln3449Arg)
c.3432A>G
c.7627A>G
c.4793A>G (p.Gln1598Arg)
c.7672A>G
c.10727A>G (p.Gln3576Arg)
c.881A>G (p.Gln294Arg)
c.2083A>G
c.115A>G
c.1824A>G
c.4218A>G (n.4218A>G)
c.10601A>G (p.Gln3534Arg)
n.4530A>G
c.10730A>G (p.Gln3577Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.73572604A>TCA347285127ALMS1c.10346A>T (p.Gln3449Leu)
c.3432A>T
c.7627A>T
c.4793A>T (p.Gln1598Leu)
c.7672A>T
c.10727A>T (p.Gln3576Leu)
c.881A>T (p.Gln294Leu)
c.2083A>T
c.115A>T
c.1824A>T
c.4218A>T (n.4218A>T)
c.10601A>T (p.Gln3534Leu)
n.4530A>T
c.10730A>T (p.Gln3577Leu)
2g.73572605A>CCA347285131ALMS1c.10347A>C (p.Gln3449His)
c.3433A>C
c.7628A>C
c.4794A>C (p.Gln1598His)
c.7673A>C
c.10728A>C (p.Gln3576His)
c.882A>C (p.Gln294His)
c.2084A>C
c.116A>C
c.1825A>C
c.4219A>C (n.4219A>C)
c.10602A>C (p.Gln3534His)
n.4531A>C
c.10731A>C (p.Gln3577His)
2g.73572605A>GCA427024235ALMS1c.10347A>G (p.Gln3449=)
c.3433A>G
c.7628A>G
c.4794A>G (p.Gln1598=)
c.7673A>G
c.10728A>G (p.Gln3576=)
c.882A>G (p.Gln294=)
c.2084A>G
c.116A>G
c.1825A>G
c.4219A>G (n.4219A>G)
c.10602A>G (p.Gln3534=)
n.4531A>G
c.10731A>G (p.Gln3577=)
 ClinVar
2g.73572605A>TCA347285133ALMS1c.10347A>T (p.Gln3449His)
c.3433A>T
c.7628A>T
c.4794A>T (p.Gln1598His)
c.7673A>T
c.10728A>T (p.Gln3576His)
c.882A>T (p.Gln294His)
c.2084A>T
c.116A>T
c.1825A>T
c.4219A>T (n.4219A>T)
c.10602A>T (p.Gln3534His)
n.4531A>T
c.10731A>T (p.Gln3577His)
2g.73572606A>CCA347285135ALMS1c.10348A>C (p.Ile3450Leu)
c.3434A>C
c.7629A>C
c.4795A>C (p.Ile1599Leu)
c.7674A>C
c.10729A>C (p.Ile3577Leu)
c.883A>C (p.Ile295Leu)
c.2085A>C
c.117A>C
c.1826A>C
c.4220A>C (n.4220A>C)
c.10603A>C (p.Ile3535Leu)
n.4532A>C
c.10732A>C (p.Ile3578Leu)
2g.73572606A>GCA347285138ALMS1c.10348A>G (p.Ile3450Val)
c.3434A>G
c.7629A>G
c.4795A>G (p.Ile1599Val)
c.7674A>G
c.10729A>G (p.Ile3577Val)
c.883A>G (p.Ile295Val)
c.2085A>G
c.117A>G
c.1826A>G
c.4220A>G (n.4220A>G)
c.10603A>G (p.Ile3535Val)
n.4532A>G
c.10732A>G (p.Ile3578Val)
2g.73572606A>TCA347285137ALMS1c.10348A>T (p.Ile3450Phe)
c.3434A>T
c.7629A>T
c.4795A>T (p.Ile1599Phe)
c.7674A>T
c.10729A>T (p.Ile3577Phe)
c.883A>T (p.Ile295Phe)
c.2085A>T
c.117A>T
c.1826A>T
c.4220A>T (n.4220A>T)
c.10603A>T (p.Ile3535Phe)
n.4532A>T
c.10732A>T (p.Ile3578Phe)
2g.73572607T>ACA347285141ALMS1c.10349T>A (p.Ile3450Asn)
c.3435T>A
c.7630T>A
c.4796T>A (p.Ile1599Asn)
c.7675T>A
c.10730T>A (p.Ile3577Asn)
c.884T>A (p.Ile295Asn)
c.2086T>A
c.118T>A
c.1827T>A
c.4221T>A (n.4221T>A)
c.10604T>A (p.Ile3535Asn)
n.4533T>A
c.10733T>A (p.Ile3578Asn)
2g.73572607T>CCA347285142ALMS1c.10349T>C (p.Ile3450Thr)
c.3435T>C
c.7630T>C
c.4796T>C (p.Ile1599Thr)
c.7675T>C
c.10730T>C (p.Ile3577Thr)
c.884T>C (p.Ile295Thr)
c.2086T>C
c.118T>C
c.1827T>C
c.4221T>C (n.4221T>C)
c.10604T>C (p.Ile3535Thr)
n.4533T>C
c.10733T>C (p.Ile3578Thr)
2g.73572607T>GCA347285144ALMS1c.10349T>G (p.Ile3450Ser)
c.3435T>G
c.7630T>G
c.4796T>G (p.Ile1599Ser)
c.7675T>G
c.10730T>G (p.Ile3577Ser)
c.884T>G (p.Ile295Ser)
c.2086T>G
c.118T>G
c.1827T>G
c.4221T>G (n.4221T>G)
c.10604T>G (p.Ile3535Ser)
n.4533T>G
c.10733T>G (p.Ile3578Ser)
2g.73572608T>ACA427024240ALMS1c.10350T>A (p.Ile3450=)
c.3436T>A
c.7631T>A
c.4797T>A (p.Ile1599=)
c.7676T>A
c.10731T>A (p.Ile3577=)
c.885T>A (p.Ile295=)
c.2087T>A
c.119T>A
c.1828T>A
c.4222T>A (n.4222T>A)
c.10605T>A (p.Ile3535=)
n.4534T>A
c.10734T>A (p.Ile3578=)
2g.73572608T>CCA427024239ALMS1c.10350T>C (p.Ile3450=)
c.3436T>C
c.7631T>C
c.4797T>C (p.Ile1599=)
c.7676T>C
c.10731T>C (p.Ile3577=)
c.885T>C (p.Ile295=)
c.2087T>C
c.119T>C
c.1828T>C
c.4222T>C (n.4222T>C)
c.10605T>C (p.Ile3535=)
n.4534T>C
c.10734T>C (p.Ile3578=)
 ClinVar dbSNP gnomAD v4
2g.73572608T>GCA347285146ALMS1c.10350T>G (p.Ile3450Met)
c.3436T>G
c.7631T>G
c.4797T>G (p.Ile1599Met)
c.7676T>G
c.10731T>G (p.Ile3577Met)
c.885T>G (p.Ile295Met)
c.2087T>G
c.119T>G
c.1828T>G
c.4222T>G (n.4222T>G)
c.10605T>G (p.Ile3535Met)
n.4534T>G
c.10734T>G (p.Ile3578Met)
2g.73572608T=CA1261021387ALMS1c.10350T= (p.Ile3450=)
c.3436T=
c.7631T=
c.4797T= (p.Ile1599=)
c.7676T=
c.10731T= (p.Ile3577=)
c.885T= (p.Ile295=)
c.2087T=
c.119T=
c.1828T=
c.4222T= (n.4222T=)
c.10605T= (p.Ile3535=)
n.4534T=
c.10734T= (p.Ile3578=)
2g.73572609A>CCA347285148ALMS1c.10351A>C (p.Ser3451Arg)
c.3437A>C
c.7632A>C
c.4798A>C (p.Ser1600Arg)
c.7677A>C
c.10732A>C (p.Ser3578Arg)
c.886A>C (p.Ser296Arg)
c.2088A>C
c.120A>C
c.1829A>C
c.4223A>C (n.4223A>C)
c.10606A>C (p.Ser3536Arg)
n.4535A>C
c.10735A>C (p.Ser3579Arg)
2g.73572609A>GCA347285152ALMS1c.10351A>G (p.Ser3451Gly)
c.3437A>G
c.7632A>G
c.4798A>G (p.Ser1600Gly)
c.7677A>G
c.10732A>G (p.Ser3578Gly)
c.886A>G (p.Ser296Gly)
c.2088A>G
c.120A>G
c.1829A>G
c.4223A>G (n.4223A>G)
c.10606A>G (p.Ser3536Gly)
n.4535A>G
c.10735A>G (p.Ser3579Gly)
 gnomAD v4
2g.73572609A>TCA347285150ALMS1c.10351A>T (p.Ser3451Cys)
c.3437A>T
c.7632A>T
c.4798A>T (p.Ser1600Cys)
c.7677A>T
c.10732A>T (p.Ser3578Cys)
c.886A>T (p.Ser296Cys)
c.2088A>T
c.120A>T
c.1829A>T
c.4223A>T (n.4223A>T)
c.10606A>T (p.Ser3536Cys)
n.4535A>T
c.10735A>T (p.Ser3579Cys)
2g.73572610G>ACA347285155ALMS1c.10352G>A (p.Ser3451Asn)
c.3438G>A
c.7633G>A
c.4799G>A (p.Ser1600Asn)
c.7678G>A
c.10733G>A (p.Ser3578Asn)
c.887G>A (p.Ser296Asn)
c.2089G>A
c.121G>A
c.1830G>A
c.4224G>A (n.4224G>A)
c.10607G>A (p.Ser3536Asn)
n.4536G>A
c.10736G>A (p.Ser3579Asn)
 ClinVar dbSNP
2g.73572610G>CCA347285156ALMS1c.10352G>C (p.Ser3451Thr)
c.3438G>C
c.7633G>C
c.4799G>C (p.Ser1600Thr)
c.7678G>C
c.10733G>C (p.Ser3578Thr)
c.887G>C (p.Ser296Thr)
c.2089G>C
c.121G>C
c.1830G>C
c.4224G>C (n.4224G>C)
c.10607G>C (p.Ser3536Thr)
n.4536G>C
c.10736G>C (p.Ser3579Thr)
2g.73572610G=CA1261021392ALMS1c.10352G= (p.Ser3451=)
c.3438G=
c.7633G=
c.4799G= (p.Ser1600=)
c.7678G=
c.10733G= (p.Ser3578=)
c.887G= (p.Ser296=)
c.2089G=
c.121G=
c.1830G=
c.4224G= (n.4224G=)
c.10607G= (p.Ser3536=)
n.4536G=
c.10736G= (p.Ser3579=)
2g.73572610G>TCA347285158ALMS1c.10352G>T (p.Ser3451Ile)
c.3438G>T
c.7633G>T
c.4799G>T (p.Ser1600Ile)
c.7678G>T
c.10733G>T (p.Ser3578Ile)
c.887G>T (p.Ser296Ile)
c.2089G>T
c.121G>T
c.1830G>T
c.4224G>T (n.4224G>T)
c.10607G>T (p.Ser3536Ile)
n.4536G>T
c.10736G>T (p.Ser3579Ile)
2g.73572611T>ACA347285160ALMS1c.10353T>A (p.Ser3451Arg)
c.3439T>A
c.7634T>A
c.4800T>A (p.Ser1600Arg)
c.7679T>A
c.10734T>A (p.Ser3578Arg)
c.888T>A (p.Ser296Arg)
c.2090T>A
c.122T>A
c.1831T>A
c.4225T>A (n.4225T>A)
c.10608T>A (p.Ser3536Arg)
n.4537T>A
c.10737T>A (p.Ser3579Arg)
2g.73572611T>CCA427024369ALMS1c.10353T>C (p.Ser3451=)
c.3439T>C
c.7634T>C
c.4800T>C (p.Ser1600=)
c.7679T>C
c.10734T>C (p.Ser3578=)
c.888T>C (p.Ser296=)
c.2090T>C
c.122T>C
c.1831T>C
c.4225T>C (n.4225T>C)
c.10608T>C (p.Ser3536=)
n.4537T>C
c.10737T>C (p.Ser3579=)
 dbSNP gnomAD v2 gnomAD v4
2g.73572611T>GCA347285162ALMS1c.10353T>G (p.Ser3451Arg)
c.3439T>G
c.7634T>G
c.4800T>G (p.Ser1600Arg)
c.7679T>G
c.10734T>G (p.Ser3578Arg)
c.888T>G (p.Ser296Arg)
c.2090T>G
c.122T>G
c.1831T>G
c.4225T>G (n.4225T>G)
c.10608T>G (p.Ser3536Arg)
n.4537T>G
c.10737T>G (p.Ser3579Arg)
 dbSNP gnomAD v4
2g.73572611T=CA1261021398ALMS1c.10353T= (p.Ser3451=)
c.3439T=
c.7634T=
c.4800T= (p.Ser1600=)
c.7679T=
c.10734T= (p.Ser3578=)
c.888T= (p.Ser296=)
c.2090T=
c.122T=
c.1831T=
c.4225T= (n.4225T=)
c.10608T= (p.Ser3536=)
n.4537T=
c.10737T= (p.Ser3579=)
2g.73572612G>ACA347285166ALMS1c.10354G>A (p.Asp3452Asn)
c.3440G>A
c.7635G>A
c.4801G>A (p.Asp1601Asn)
c.7680G>A
c.10735G>A (p.Asp3579Asn)
c.889G>A (p.Asp297Asn)
c.2091G>A
c.123G>A
c.1832G>A
c.4226G>A (n.4226G>A)
c.10609G>A (p.Asp3537Asn)
n.4538G>A
c.10738G>A (p.Asp3580Asn)
 dbSNP gnomAD v2
2g.73572612G>CCA347285168ALMS1c.10354G>C (p.Asp3452His)
c.3440G>C
c.7635G>C
c.4801G>C (p.Asp1601His)
c.7680G>C
c.10735G>C (p.Asp3579His)
c.889G>C (p.Asp297His)
c.2091G>C
c.123G>C
c.1832G>C
c.4226G>C (n.4226G>C)
c.10609G>C (p.Asp3537His)
n.4538G>C
c.10738G>C (p.Asp3580His)
 ClinVar dbSNP
2g.73572612G=CA1261021404ALMS1c.10354G= (p.Asp3452=)
c.3440G=
c.7635G=
c.4801G= (p.Asp1601=)
c.7680G=
c.10735G= (p.Asp3579=)
c.889G= (p.Asp297=)
c.2091G=
c.123G=
c.1832G=
c.4226G= (n.4226G=)
c.10609G= (p.Asp3537=)
n.4538G=
c.10738G= (p.Asp3580=)
2g.73572612G>TCA347285170ALMS1c.10354G>T (p.Asp3452Tyr)
c.3440G>T
c.7635G>T
c.4801G>T (p.Asp1601Tyr)
c.7680G>T
c.10735G>T (p.Asp3579Tyr)
c.889G>T (p.Asp297Tyr)
c.2091G>T
c.123G>T
c.1832G>T
c.4226G>T (n.4226G>T)
c.10609G>T (p.Asp3537Tyr)
n.4538G>T
c.10738G>T (p.Asp3580Tyr)
2g.73572613A=CA1261021409ALMS1c.10355A= (p.Asp3452=)
c.3441A=
c.7636A=
c.4802A= (p.Asp1601=)
c.7681A=
c.10736A= (p.Asp3579=)
c.890A= (p.Asp297=)
c.2092A=
c.124A=
c.1833A=
c.4227A= (n.4227A=)
c.10610A= (p.Asp3537=)
n.4539A=
c.10739A= (p.Asp3580=)
2g.73572613A>CCA347285174ALMS1c.10355A>C (p.Asp3452Ala)
c.3441A>C
c.7636A>C
c.4802A>C (p.Asp1601Ala)
c.7681A>C
c.10736A>C (p.Asp3579Ala)
c.890A>C (p.Asp297Ala)
c.2092A>C
c.124A>C
c.1833A>C
c.4227A>C (n.4227A>C)
c.10610A>C (p.Asp3537Ala)
n.4539A>C
c.10739A>C (p.Asp3580Ala)
2g.73572613A>GCA1715049ALMS1c.10355A>G (p.Asp3452Gly)
c.3441A>G
c.7636A>G
c.4802A>G (p.Asp1601Gly)
c.7681A>G
c.10736A>G (p.Asp3579Gly)
c.890A>G (p.Asp297Gly)
c.2092A>G
c.124A>G
c.1833A>G
c.4227A>G (n.4227A>G)
c.10610A>G (p.Asp3537Gly)
n.4539A>G
c.10739A>G (p.Asp3580Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572613A>TCA347285179ALMS1c.10355A>T (p.Asp3452Val)
c.3441A>T
c.7636A>T
c.4802A>T (p.Asp1601Val)
c.7681A>T
c.10736A>T (p.Asp3579Val)
c.890A>T (p.Asp297Val)
c.2092A>T
c.124A>T
c.1833A>T
c.4227A>T (n.4227A>T)
c.10610A>T (p.Asp3537Val)
n.4539A>T
c.10739A>T (p.Asp3580Val)
2g.73572614T>ACA347285182ALMS1c.10356T>A (p.Asp3452Glu)
c.3442T>A
c.7637T>A
c.4803T>A (p.Asp1601Glu)
c.7682T>A
c.10737T>A (p.Asp3579Glu)
c.891T>A (p.Asp297Glu)
c.2093T>A
c.125T>A
c.1834T>A
c.4228T>A (n.4228T>A)
c.10611T>A (p.Asp3537Glu)
n.4540T>A
c.10740T>A (p.Asp3580Glu)
2g.73572614T>CCA427024374ALMS1c.10356T>C (p.Asp3452=)
c.3442T>C
c.7637T>C
c.4803T>C (p.Asp1601=)
c.7682T>C
c.10737T>C (p.Asp3579=)
c.891T>C (p.Asp297=)
c.2093T>C
c.125T>C
c.1834T>C
c.4228T>C (n.4228T>C)
c.10611T>C (p.Asp3537=)
n.4540T>C
c.10740T>C (p.Asp3580=)
2g.73572614T>GCA347285184ALMS1c.10356T>G (p.Asp3452Glu)
c.3442T>G
c.7637T>G
c.4803T>G (p.Asp1601Glu)
c.7682T>G
c.10737T>G (p.Asp3579Glu)
c.891T>G (p.Asp297Glu)
c.2093T>G
c.125T>G
c.1834T>G
c.4228T>G (n.4228T>G)
c.10611T>G (p.Asp3537Glu)
n.4540T>G
c.10740T>G (p.Asp3580Glu)
 gnomAD v4
2g.73572615C>ACA347285187ALMS1c.10357C>A (p.Pro3453Thr)
c.3443C>A
c.7638C>A
c.4804C>A (p.Pro1602Thr)
c.7683C>A
c.10738C>A (p.Pro3580Thr)
c.892C>A (p.Pro298Thr)
c.2094C>A
c.126C>A
c.1835C>A
c.4229C>A (n.4229C>A)
c.10612C>A (p.Pro3538Thr)
n.4541C>A
c.10741C>A (p.Pro3581Thr)
 dbSNP
2g.73572615C=CA1261021413ALMS1c.10357C= (p.Pro3453=)
c.3443C=
c.7638C=
c.4804C= (p.Pro1602=)
c.7683C=
c.10738C= (p.Pro3580=)
c.892C= (p.Pro298=)
c.2094C=
c.126C=
c.1835C=
c.4229C= (n.4229C=)
c.10612C= (p.Pro3538=)
n.4541C=
c.10741C= (p.Pro3581=)
2g.73572615C>GCA1715050ALMS1c.10357C>G (p.Pro3453Ala)
c.3443C>G
c.7638C>G
c.4804C>G (p.Pro1602Ala)
c.7683C>G
c.10738C>G (p.Pro3580Ala)
c.892C>G (p.Pro298Ala)
c.2094C>G
c.126C>G
c.1835C>G
c.4229C>G (n.4229C>G)
c.10612C>G (p.Pro3538Ala)
n.4541C>G
c.10741C>G (p.Pro3581Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572615C>TCA347285191ALMS1c.10357C>T (p.Pro3453Ser)
c.3443C>T
c.7638C>T
c.4804C>T (p.Pro1602Ser)
c.7683C>T
c.10738C>T (p.Pro3580Ser)
c.892C>T (p.Pro298Ser)
c.2094C>T
c.126C>T
c.1835C>T
c.4229C>T (n.4229C>T)
c.10612C>T (p.Pro3538Ser)
n.4541C>T
c.10741C>T (p.Pro3581Ser)
2g.73572616C>ACA347285194ALMS1c.10358C>A (p.Pro3453Gln)
c.3444C>A
c.7639C>A
c.4805C>A (p.Pro1602Gln)
c.7684C>A
c.10739C>A (p.Pro3580Gln)
c.893C>A (p.Pro298Gln)
c.2095C>A
c.127C>A
c.1836C>A
c.4230C>A (n.4230C>A)
c.10613C>A (p.Pro3538Gln)
n.4542C>A
c.10742C>A (p.Pro3581Gln)
2g.73572616C>GCA347285197ALMS1c.10358C>G (p.Pro3453Arg)
c.3444C>G
c.7639C>G
c.4805C>G (p.Pro1602Arg)
c.7684C>G
c.10739C>G (p.Pro3580Arg)
c.893C>G (p.Pro298Arg)
c.2095C>G
c.127C>G
c.1836C>G
c.4230C>G (n.4230C>G)
c.10613C>G (p.Pro3538Arg)
n.4542C>G
c.10742C>G (p.Pro3581Arg)
2g.73572616C>TCA347285199ALMS1c.10358C>T (p.Pro3453Leu)
c.3444C>T
c.7639C>T
c.4805C>T (p.Pro1602Leu)
c.7684C>T
c.10739C>T (p.Pro3580Leu)
c.893C>T (p.Pro298Leu)
c.2095C>T
c.127C>T
c.1836C>T
c.4230C>T (n.4230C>T)
c.10613C>T (p.Pro3538Leu)
n.4542C>T
c.10742C>T (p.Pro3581Leu)
2g.73572617A>CCA427024381ALMS1c.10359A>C (p.Pro3453=)
c.3445A>C
c.7640A>C
c.4806A>C (p.Pro1602=)
c.7685A>C
c.10740A>C (p.Pro3580=)
c.894A>C (p.Pro298=)
c.2096A>C
c.128A>C
c.1837A>C
c.4231A>C (n.4231A>C)
c.10614A>C (p.Pro3538=)
n.4543A>C
c.10743A>C (p.Pro3581=)
 gnomAD v4
2g.73572617A>GCA427024383ALMS1c.10359A>G (p.Pro3453=)
c.3445A>G
c.7640A>G
c.4806A>G (p.Pro1602=)
c.7685A>G
c.10740A>G (p.Pro3580=)
c.894A>G (p.Pro298=)
c.2096A>G
c.128A>G
c.1837A>G
c.4231A>G (n.4231A>G)
c.10614A>G (p.Pro3538=)
n.4543A>G
c.10743A>G (p.Pro3581=)
2g.73572617A>TCA427024386ALMS1c.10359A>T (p.Pro3453=)
c.3445A>T
c.7640A>T
c.4806A>T (p.Pro1602=)
c.7685A>T
c.10740A>T (p.Pro3580=)
c.894A>T (p.Pro298=)
c.2096A>T
c.128A>T
c.1837A>T
c.4231A>T (n.4231A>T)
c.10614A>T (p.Pro3538=)
n.4543A>T
c.10743A>T (p.Pro3581=)
2g.73572618C>ACA347285203ALMS1c.10360C>A (p.Gln3454Lys)
c.3446C>A
c.7641C>A
c.4807C>A (p.Gln1603Lys)
c.7686C>A
c.10741C>A (p.Gln3581Lys)
c.895C>A (p.Gln299Lys)
c.2097C>A
c.129C>A
c.1838C>A
c.4232C>A (n.4232C>A)
c.10615C>A (p.Gln3539Lys)
n.4544C>A
c.10744C>A (p.Gln3582Lys)
 dbSNP
2g.73572618C>GCA347285206ALMS1c.10360C>G (p.Gln3454Glu)
c.3446C>G
c.7641C>G
c.4807C>G (p.Gln1603Glu)
c.7686C>G
c.10741C>G (p.Gln3581Glu)
c.895C>G (p.Gln299Glu)
c.2097C>G
c.129C>G
c.1838C>G
c.4232C>G (n.4232C>G)
c.10615C>G (p.Gln3539Glu)
n.4544C>G
c.10744C>G (p.Gln3582Glu)
2g.73572618C>TCA347285207ALMS1c.10360C>T (p.Gln3454Ter)
c.3446C>T
c.7641C>T
c.4807C>T (p.Gln1603Ter)
c.7686C>T
c.10741C>T (p.Gln3581Ter)
c.895C>T (p.Gln299Ter)
c.2097C>T
c.129C>T
c.1838C>T
c.4232C>T (n.4232C>T)
c.10615C>T (p.Gln3539Ter)
n.4544C>T
c.10744C>T (p.Gln3582Ter)
2g.73572619A=CA1261021420ALMS1c.10361A= (p.Gln3454=)
c.3447A=
c.7642A=
c.4808A= (p.Gln1603=)
c.7687A=
c.10742A= (p.Gln3581=)
c.896A= (p.Gln299=)
c.2098A=
c.130A=
c.1839A=
c.4233A= (n.4233A=)
c.10616A= (p.Gln3539=)
n.4545A=
c.10745A= (p.Gln3582=)
2g.73572619A>CCA347285212ALMS1c.10361A>C (p.Gln3454Pro)
c.3447A>C
c.7642A>C
c.4808A>C (p.Gln1603Pro)
c.7687A>C
c.10742A>C (p.Gln3581Pro)
c.896A>C (p.Gln299Pro)
c.2098A>C
c.130A>C
c.1839A>C
c.4233A>C (n.4233A>C)
c.10616A>C (p.Gln3539Pro)
n.4545A>C
c.10745A>C (p.Gln3582Pro)
2g.73572619A>GCA50386396ALMS1c.10361A>G (p.Gln3454Arg)
c.3447A>G
c.7642A>G
c.4808A>G (p.Gln1603Arg)
c.7687A>G
c.10742A>G (p.Gln3581Arg)
c.896A>G (p.Gln299Arg)
c.2098A>G
c.130A>G
c.1839A>G
c.4233A>G (n.4233A>G)
c.10616A>G (p.Gln3539Arg)
n.4545A>G
c.10745A>G (p.Gln3582Arg)
 dbSNP gnomAD v4
2g.73572619A>TCA347285215ALMS1c.10361A>T (p.Gln3454Leu)
c.3447A>T
c.7642A>T
c.4808A>T (p.Gln1603Leu)
c.7687A>T
c.10742A>T (p.Gln3581Leu)
c.896A>T (p.Gln299Leu)
c.2098A>T
c.130A>T
c.1839A>T
c.4233A>T (n.4233A>T)
c.10616A>T (p.Gln3539Leu)
n.4545A>T
c.10745A>T (p.Gln3582Leu)
2g.73572620A=CA1261021424ALMS1c.10362A= (p.Gln3454=)
c.3448A=
c.7643A=
c.4809A= (p.Gln1603=)
c.7688A=
c.10743A= (p.Gln3581=)
c.897A= (p.Gln299=)
c.2099A=
c.131A=
c.1840A=
c.4234A= (n.4234A=)
c.10617A= (p.Gln3539=)
n.4546A=
c.10746A= (p.Gln3582=)
2g.73572620A>CCA1715051ALMS1c.10362A>C (p.Gln3454His)
c.3448A>C
c.7643A>C
c.4809A>C (p.Gln1603His)
c.7688A>C
c.10743A>C (p.Gln3581His)
c.897A>C (p.Gln299His)
c.2099A>C
c.131A>C
c.1840A>C
c.4234A>C (n.4234A>C)
c.10617A>C (p.Gln3539His)
n.4546A>C
c.10746A>C (p.Gln3582His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572620A>GCA427024393ALMS1c.10362A>G (p.Gln3454=)
c.3448A>G
c.7643A>G
c.4809A>G (p.Gln1603=)
c.7688A>G
c.10743A>G (p.Gln3581=)
c.897A>G (p.Gln299=)
c.2099A>G
c.131A>G
c.1840A>G
c.4234A>G (n.4234A>G)
c.10617A>G (p.Gln3539=)
n.4546A>G
c.10746A>G (p.Gln3582=)
 ClinVar
2g.73572620A>TCA347285218ALMS1c.10362A>T (p.Gln3454His)
c.3448A>T
c.7643A>T
c.4809A>T (p.Gln1603His)
c.7688A>T
c.10743A>T (p.Gln3581His)
c.897A>T (p.Gln299His)
c.2099A>T
c.131A>T
c.1840A>T
c.4234A>T (n.4234A>T)
c.10617A>T (p.Gln3539His)
n.4546A>T
c.10746A>T (p.Gln3582His)
2g.73572621A>CCA427024399ALMS1c.10363A>C (p.Arg3455=)
c.3449A>C
c.7644A>C
c.4810A>C (p.Arg1604=)
c.7689A>C
c.10744A>C (p.Arg3582=)
c.898A>C (p.Arg300=)
c.2100A>C
c.132A>C
c.1841A>C
c.4235A>C (n.4235A>C)
c.10618A>C (p.Arg3540=)
n.4547A>C
c.10747A>C (p.Arg3583=)
2g.73572621A>GCA347285222ALMS1c.10363A>G (p.Arg3455Gly)
c.3449A>G
c.7644A>G
c.4810A>G (p.Arg1604Gly)
c.7689A>G
c.10744A>G (p.Arg3582Gly)
c.898A>G (p.Arg300Gly)
c.2100A>G
c.132A>G
c.1841A>G
c.4235A>G (n.4235A>G)
c.10618A>G (p.Arg3540Gly)
n.4547A>G
c.10747A>G (p.Arg3583Gly)
 gnomAD v4
2g.73572621A>TCA347285224ALMS1c.10363A>T (p.Arg3455Trp)
c.3449A>T
c.7644A>T
c.4810A>T (p.Arg1604Trp)
c.7689A>T
c.10744A>T (p.Arg3582Trp)
c.898A>T (p.Arg300Trp)
c.2100A>T
c.132A>T
c.1841A>T
c.4235A>T (n.4235A>T)
c.10618A>T (p.Arg3540Trp)
n.4547A>T
c.10747A>T (p.Arg3583Trp)
2g.73572622G>ACA347285227ALMS1c.10364G>A (p.Arg3455Lys)
c.3450G>A
c.7645G>A
c.4811G>A (p.Arg1604Lys)
c.7690G>A
c.10745G>A (p.Arg3582Lys)
c.899G>A (p.Arg300Lys)
c.2101G>A
c.133G>A
c.1842G>A
c.4236G>A (n.4236G>A)
c.10619G>A (p.Arg3540Lys)
n.4548G>A
c.10748G>A (p.Arg3583Lys)
 gnomAD v4
2g.73572622G>CCA347285229ALMS1c.10364G>C (p.Arg3455Thr)
c.3450G>C
c.7645G>C
c.4811G>C (p.Arg1604Thr)
c.7690G>C
c.10745G>C (p.Arg3582Thr)
c.899G>C (p.Arg300Thr)
c.2101G>C
c.133G>C
c.1842G>C
c.4236G>C (n.4236G>C)
c.10619G>C (p.Arg3540Thr)
n.4548G>C
c.10748G>C (p.Arg3583Thr)
2g.73572622G>TCA347285232ALMS1c.10364G>T (p.Arg3455Met)
c.3450G>T
c.7645G>T
c.4811G>T (p.Arg1604Met)
c.7690G>T
c.10745G>T (p.Arg3582Met)
c.899G>T (p.Arg300Met)
c.2101G>T
c.133G>T
c.1842G>T
c.4236G>T (n.4236G>T)
c.10619G>T (p.Arg3540Met)
n.4548G>T
c.10748G>T (p.Arg3583Met)
2g.73572623G>ACA427024405ALMS1c.10365G>A (p.Arg3455=)
c.3451G>A
c.7646G>A
c.4812G>A (p.Arg1604=)
c.7691G>A
c.10746G>A (p.Arg3582=)
c.900G>A (p.Arg300=)
c.2102G>A
c.134G>A
c.1843G>A
c.4237G>A (n.4237G>A)
c.10620G>A (p.Arg3540=)
n.4549G>A
c.10749G>A (p.Arg3583=)
2g.73572623G>CCA347285235ALMS1c.10365G>C (p.Arg3455Ser)
c.3451G>C
c.7646G>C
c.4812G>C (p.Arg1604Ser)
c.7691G>C
c.10746G>C (p.Arg3582Ser)
c.900G>C (p.Arg300Ser)
c.2102G>C
c.134G>C
c.1843G>C
c.4237G>C (n.4237G>C)
c.10620G>C (p.Arg3540Ser)
n.4549G>C
c.10749G>C (p.Arg3583Ser)
2g.73572623G>TCA347285237ALMS1c.10365G>T (p.Arg3455Ser)
c.3451G>T
c.7646G>T
c.4812G>T (p.Arg1604Ser)
c.7691G>T
c.10746G>T (p.Arg3582Ser)
c.900G>T (p.Arg300Ser)
c.2102G>T
c.134G>T
c.1843G>T
c.4237G>T (n.4237G>T)
c.10620G>T (p.Arg3540Ser)
n.4549G>T
c.10749G>T (p.Arg3583Ser)
2g.73572624G>ACA347285239ALMS1c.10366G>A (p.Asp3456Asn)
c.3452G>A
c.7647G>A
c.4813G>A (p.Asp1605Asn)
c.7692G>A
c.10747G>A (p.Asp3583Asn)
c.901G>A (p.Asp301Asn)
c.2103G>A
c.135G>A
c.1844G>A
c.4238G>A (n.4238G>A)
c.10621G>A (p.Asp3541Asn)
n.4550G>A
c.10750G>A (p.Asp3584Asn)
2g.73572624G>CCA347285242ALMS1c.10366G>C (p.Asp3456His)
c.3452G>C
c.7647G>C
c.4813G>C (p.Asp1605His)
c.7692G>C
c.10747G>C (p.Asp3583His)
c.901G>C (p.Asp301His)
c.2103G>C
c.135G>C
c.1844G>C
c.4238G>C (n.4238G>C)
c.10621G>C (p.Asp3541His)
n.4550G>C
c.10750G>C (p.Asp3584His)
2g.73572624G>TCA347285244ALMS1c.10366G>T (p.Asp3456Tyr)
c.3452G>T
c.7647G>T
c.4813G>T (p.Asp1605Tyr)
c.7692G>T
c.10747G>T (p.Asp3583Tyr)
c.901G>T (p.Asp301Tyr)
c.2103G>T
c.135G>T
c.1844G>T
c.4238G>T (n.4238G>T)
c.10621G>T (p.Asp3541Tyr)
n.4550G>T
c.10750G>T (p.Asp3584Tyr)
2g.73572625A>CCA347285248ALMS1c.10367A>C (p.Asp3456Ala)
c.3453A>C
c.7648A>C
c.4814A>C (p.Asp1605Ala)
c.7693A>C
c.10748A>C (p.Asp3583Ala)
c.902A>C (p.Asp301Ala)
c.2104A>C
c.136A>C
c.1845A>C
c.4239A>C (n.4239A>C)
c.10622A>C (p.Asp3541Ala)
n.4551A>C
c.10751A>C (p.Asp3584Ala)
2g.73572625A>GCA347285250ALMS1c.10367A>G (p.Asp3456Gly)
c.3453A>G
c.7648A>G
c.4814A>G (p.Asp1605Gly)
c.7693A>G
c.10748A>G (p.Asp3583Gly)
c.902A>G (p.Asp301Gly)
c.2104A>G
c.136A>G
c.1845A>G
c.4239A>G (n.4239A>G)
c.10622A>G (p.Asp3541Gly)
n.4551A>G
c.10751A>G (p.Asp3584Gly)
2g.73572625A>TCA347285252ALMS1c.10367A>T (p.Asp3456Val)
c.3453A>T
c.7648A>T
c.4814A>T (p.Asp1605Val)
c.7693A>T
c.10748A>T (p.Asp3583Val)
c.902A>T (p.Asp301Val)
c.2104A>T
c.136A>T
c.1845A>T
c.4239A>T (n.4239A>T)
c.10622A>T (p.Asp3541Val)
n.4551A>T
c.10751A>T (p.Asp3584Val)
2g.73572626T>ACA347285256ALMS1c.10368T>A (p.Asp3456Glu)
c.3454T>A
c.7649T>A
c.4815T>A (p.Asp1605Glu)
c.7694T>A
c.10749T>A (p.Asp3583Glu)
c.903T>A (p.Asp301Glu)
c.2105T>A
c.137T>A
c.1846T>A
c.4240T>A (n.4240T>A)
c.10623T>A (p.Asp3541Glu)
n.4552T>A
c.10752T>A (p.Asp3584Glu)
2g.73572626T>CCA427024411ALMS1c.10368T>C (p.Asp3456=)
c.3454T>C
c.7649T>C
c.4815T>C (p.Asp1605=)
c.7694T>C
c.10749T>C (p.Asp3583=)
c.903T>C (p.Asp301=)
c.2105T>C
c.137T>C
c.1846T>C
c.4240T>C (n.4240T>C)
c.10623T>C (p.Asp3541=)
n.4552T>C
c.10752T>C (p.Asp3584=)
2g.73572626T>GCA347285258ALMS1c.10368T>G (p.Asp3456Glu)
c.3454T>G
c.7649T>G
c.4815T>G (p.Asp1605Glu)
c.7694T>G
c.10749T>G (p.Asp3583Glu)
c.903T>G (p.Asp301Glu)
c.2105T>G
c.137T>G
c.1846T>G
c.4240T>G (n.4240T>G)
c.10623T>G (p.Asp3541Glu)
n.4552T>G
c.10752T>G (p.Asp3584Glu)
2g.73572627C>ACA347285263ALMS1c.10369C>A (p.Gln3457Lys)
c.3455C>A
c.7650C>A
c.4816C>A (p.Gln1606Lys)
c.7695C>A
c.10750C>A (p.Gln3584Lys)
c.904C>A (p.Gln302Lys)
c.2106C>A
c.138C>A
c.1847C>A
c.4241C>A (n.4241C>A)
c.10624C>A (p.Gln3542Lys)
n.4553C>A
c.10753C>A (p.Gln3585Lys)
2g.73572627C=CA1261021430ALMS1c.10369C= (p.Gln3457=)
c.3455C=
c.7650C=
c.4816C= (p.Gln1606=)
c.7695C=
c.10750C= (p.Gln3584=)
c.904C= (p.Gln302=)
c.2106C=
c.138C=
c.1847C=
c.4241C= (n.4241C=)
c.10624C= (p.Gln3542=)
n.4553C=
c.10753C= (p.Gln3585=)
2g.73572627C>GCA347285264ALMS1c.10369C>G (p.Gln3457Glu)
c.3455C>G
c.7650C>G
c.4816C>G (p.Gln1606Glu)
c.7695C>G
c.10750C>G (p.Gln3584Glu)
c.904C>G (p.Gln302Glu)
c.2106C>G
c.138C>G
c.1847C>G
c.4241C>G (n.4241C>G)
c.10624C>G (p.Gln3542Glu)
n.4553C>G
c.10753C>G (p.Gln3585Glu)
 ClinVar gnomAD v4
2g.73572627C>TCA1715052ALMS1c.10369C>T (p.Gln3457Ter)
c.3455C>T
c.7650C>T
c.4816C>T (p.Gln1606Ter)
c.7695C>T
c.10750C>T (p.Gln3584Ter)
c.904C>T (p.Gln302Ter)
c.2106C>T
c.138C>T
c.1847C>T
c.4241C>T (n.4241C>T)
c.10624C>T (p.Gln3542Ter)
n.4553C>T
c.10753C>T (p.Gln3585Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572628A=CA1261021437ALMS1c.10370A= (p.Gln3457=)
c.3456A=
c.7651A=
c.4817A= (p.Gln1606=)
c.7696A=
c.10751A= (p.Gln3584=)
c.905A= (p.Gln302=)
c.2107A=
c.139A=
c.1848A=
c.4242A= (n.4242A=)
c.10625A= (p.Gln3542=)
n.4554A=
c.10754A= (p.Gln3585=)
2g.73572628A>CCA347285271ALMS1c.10370A>C (p.Gln3457Pro)
c.3456A>C
c.7651A>C
c.4817A>C (p.Gln1606Pro)
c.7696A>C
c.10751A>C (p.Gln3584Pro)
c.905A>C (p.Gln302Pro)
c.2107A>C
c.139A>C
c.1848A>C
c.4242A>C (n.4242A>C)
c.10625A>C (p.Gln3542Pro)
n.4554A>C
c.10754A>C (p.Gln3585Pro)
2g.73572628A>GCA347285269ALMS1c.10370A>G (p.Gln3457Arg)
c.3456A>G
c.7651A>G
c.4817A>G (p.Gln1606Arg)
c.7696A>G
c.10751A>G (p.Gln3584Arg)
c.905A>G (p.Gln302Arg)
c.2107A>G
c.139A>G
c.1848A>G
c.4242A>G (n.4242A>G)
c.10625A>G (p.Gln3542Arg)
n.4554A>G
c.10754A>G (p.Gln3585Arg)
2g.73572628A>TCA1715053ALMS1c.10370A>T (p.Gln3457Leu)
c.3456A>T
c.7651A>T
c.4817A>T (p.Gln1606Leu)
c.7696A>T
c.10751A>T (p.Gln3584Leu)
c.905A>T (p.Gln302Leu)
c.2107A>T
c.139A>T
c.1848A>T
c.4242A>T (n.4242A>T)
c.10625A>T (p.Gln3542Leu)
n.4554A>T
c.10754A>T (p.Gln3585Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572630_73572632delCA2577005218ALMS1c.10372_10374del (p.Lys3458del)
c.3458_3460del
c.7653_7655del
c.4819_4821del (p.Lys1607del)
c.7698_7700del
c.10753_10755del (p.Lys3585del)
c.907_909del (p.Lys303del)
c.2109_2111del
c.141_143del
c.1850_1852del
c.4244_4246del (n.4244_4246del)
c.10627_10629del (p.Lys3543del)
n.4556_4558del
c.10756_10758del (p.Lys3586del)
 ClinVar gnomAD v4
2g.73572629G>ACA427024420ALMS1c.10371G>A (p.Gln3457=)
c.3457G>A
c.7652G>A
c.4818G>A (p.Gln1606=)
c.7697G>A
c.10752G>A (p.Gln3584=)
c.906G>A (p.Gln302=)
c.2108G>A
c.140G>A
c.1849G>A
c.4243G>A (n.4243G>A)
c.10626G>A (p.Gln3542=)
n.4555G>A
c.10755G>A (p.Gln3585=)
2g.73572629G>CCA347285276ALMS1c.10371G>C (p.Gln3457His)
c.3457G>C
c.7652G>C
c.4818G>C (p.Gln1606His)
c.7697G>C
c.10752G>C (p.Gln3584His)
c.906G>C (p.Gln302His)
c.2108G>C
c.140G>C
c.1849G>C
c.4243G>C (n.4243G>C)
c.10626G>C (p.Gln3542His)
n.4555G>C
c.10755G>C (p.Gln3585His)
2g.73572629G>TCA347285277ALMS1c.10371G>T (p.Gln3457His)
c.3457G>T
c.7652G>T
c.4818G>T (p.Gln1606His)
c.7697G>T
c.10752G>T (p.Gln3584His)
c.906G>T (p.Gln302His)
c.2108G>T
c.140G>T
c.1849G>T
c.4243G>T (n.4243G>T)
c.10626G>T (p.Gln3542His)
n.4555G>T
c.10755G>T (p.Gln3585His)
2g.73572630A>CCA347285279ALMS1c.10372A>C (p.Lys3458Gln)
c.3458A>C
c.7653A>C
c.4819A>C (p.Lys1607Gln)
c.7698A>C
c.10753A>C (p.Lys3585Gln)
c.907A>C (p.Lys303Gln)
c.2109A>C
c.141A>C
c.1850A>C
c.4244A>C (n.4244A>C)
c.10627A>C (p.Lys3543Gln)
n.4556A>C
c.10756A>C (p.Lys3586Gln)
2g.73572630A>GCA347285280ALMS1c.10372A>G (p.Lys3458Glu)
c.3458A>G
c.7653A>G
c.4819A>G (p.Lys1607Glu)
c.7698A>G
c.10753A>G (p.Lys3585Glu)
c.907A>G (p.Lys303Glu)
c.2109A>G
c.141A>G
c.1850A>G
c.4244A>G (n.4244A>G)
c.10627A>G (p.Lys3543Glu)
n.4556A>G
c.10756A>G (p.Lys3586Glu)
2g.73572630A>TCA347285283ALMS1c.10372A>T (p.Lys3458Ter)
c.3458A>T
c.7653A>T
c.4819A>T (p.Lys1607Ter)
c.7698A>T
c.10753A>T (p.Lys3585Ter)
c.907A>T (p.Lys303Ter)
c.2109A>T
c.141A>T
c.1850A>T
c.4244A>T (n.4244A>T)
c.10627A>T (p.Lys3543Ter)
n.4556A>T
c.10756A>T (p.Lys3586Ter)
2g.73572631dupCA2586964947ALMS1c.10373dup (p.Val3459GlyfsTer15)
c.3459dup
c.7654dup
c.4820dup (p.Val1608GlyfsTer15)
c.7699dup
c.10754dup (p.Val3586GlyfsTer15)
c.908dup (p.Val304GlyfsTer15)
c.2110dup
c.142dup
c.1851dup
c.4245dup (n.4245dup)
c.10628dup (p.Val3544GlyfsTer15)
n.4557dup
c.10757dup (p.Val3587GlyfsTer15)
2g.73572631A=CA1261021446ALMS1c.10373A= (p.Lys3458=)
c.3459A=
c.7654A=
c.4820A= (p.Lys1607=)
c.7699A=
c.10754A= (p.Lys3585=)
c.908A= (p.Lys303=)
c.2110A=
c.142A=
c.1851A=
c.4245A= (n.4245A=)
c.10628A= (p.Lys3543=)
n.4557A=
c.10757A= (p.Lys3586=)
2g.73572631A>CCA347285286ALMS1c.10373A>C (p.Lys3458Thr)
c.3459A>C
c.7654A>C
c.4820A>C (p.Lys1607Thr)
c.7699A>C
c.10754A>C (p.Lys3585Thr)
c.908A>C (p.Lys303Thr)
c.2110A>C
c.142A>C
c.1851A>C
c.4245A>C (n.4245A>C)
c.10628A>C (p.Lys3543Thr)
n.4557A>C
c.10757A>C (p.Lys3586Thr)
2g.73572631A>GCA1715054ALMS1c.10373A>G (p.Lys3458Arg)
c.3459A>G
c.7654A>G
c.4820A>G (p.Lys1607Arg)
c.7699A>G
c.10754A>G (p.Lys3585Arg)
c.908A>G (p.Lys303Arg)
c.2110A>G
c.142A>G
c.1851A>G
c.4245A>G (n.4245A>G)
c.10628A>G (p.Lys3543Arg)
n.4557A>G
c.10757A>G (p.Lys3586Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572631A>TCA347285291ALMS1c.10373A>T (p.Lys3458Met)
c.3459A>T
c.7654A>T
c.4820A>T (p.Lys1607Met)
c.7699A>T
c.10754A>T (p.Lys3585Met)
c.908A>T (p.Lys303Met)
c.2110A>T
c.142A>T
c.1851A>T
c.4245A>T (n.4245A>T)
c.10628A>T (p.Lys3543Met)
n.4557A>T
c.10757A>T (p.Lys3586Met)
2g.73572632G>ACA427024423ALMS1c.10374G>A (p.Lys3458=)
c.3460G>A
c.7655G>A
c.4821G>A (p.Lys1607=)
c.7700G>A
c.10755G>A (p.Lys3585=)
c.909G>A (p.Lys303=)
c.2111G>A
c.143G>A
c.1852G>A
c.4246G>A (n.4246G>A)
c.10629G>A (p.Lys3543=)
n.4558G>A
c.10758G>A (p.Lys3586=)
2g.73572632G>CCA347285294ALMS1c.10374G>C (p.Lys3458Asn)
c.3460G>C
c.7655G>C
c.4821G>C (p.Lys1607Asn)
c.7700G>C
c.10755G>C (p.Lys3585Asn)
c.909G>C (p.Lys303Asn)
c.2111G>C
c.143G>C
c.1852G>C
c.4246G>C (n.4246G>C)
c.10629G>C (p.Lys3543Asn)
n.4558G>C
c.10758G>C (p.Lys3586Asn)
2g.73572632G>TCA347285296ALMS1c.10374G>T (p.Lys3458Asn)
c.3460G>T
c.7655G>T
c.4821G>T (p.Lys1607Asn)
c.7700G>T
c.10755G>T (p.Lys3585Asn)
c.909G>T (p.Lys303Asn)
c.2111G>T
c.143G>T
c.1852G>T
c.4246G>T (n.4246G>T)
c.10629G>T (p.Lys3543Asn)
n.4558G>T
c.10758G>T (p.Lys3586Asn)
2g.73572633G>ACA347285299ALMS1c.10375G>A (p.Val3459Ile)
c.3461G>A
c.7656G>A
c.4822G>A (p.Val1608Ile)
c.7701G>A
c.10756G>A (p.Val3586Ile)
c.910G>A (p.Val304Ile)
c.2112G>A
c.144G>A
c.1853G>A
c.4247G>A (n.4247G>A)
c.10630G>A (p.Val3544Ile)
n.4559G>A
c.10759G>A (p.Val3587Ile)
2g.73572633G>CCA347285301ALMS1c.10375G>C (p.Val3459Leu)
c.3461G>C
c.7656G>C
c.4822G>C (p.Val1608Leu)
c.7701G>C
c.10756G>C (p.Val3586Leu)
c.910G>C (p.Val304Leu)
c.2112G>C
c.144G>C
c.1853G>C
c.4247G>C (n.4247G>C)
c.10630G>C (p.Val3544Leu)
n.4559G>C
c.10759G>C (p.Val3587Leu)
2g.73572633G>TCA347285304ALMS1c.10375G>T (p.Val3459Phe)
c.3461G>T
c.7656G>T
c.4822G>T (p.Val1608Phe)
c.7701G>T
c.10756G>T (p.Val3586Phe)
c.910G>T (p.Val304Phe)
c.2112G>T
c.144G>T
c.1853G>T
c.4247G>T (n.4247G>T)
c.10630G>T (p.Val3544Phe)
n.4559G>T
c.10759G>T (p.Val3587Phe)
 gnomAD v4
2g.73572634T>ACA347285310ALMS1c.10376T>A (p.Val3459Asp)
c.3462T>A
c.7657T>A
c.4823T>A (p.Val1608Asp)
c.7702T>A
c.10757T>A (p.Val3586Asp)
c.911T>A (p.Val304Asp)
c.2113T>A
c.145T>A
c.1854T>A
c.4248T>A (n.4248T>A)
c.10631T>A (p.Val3544Asp)
n.4560T>A
c.10760T>A (p.Val3587Asp)
2g.73572634T>CCA347285308ALMS1c.10376T>C (p.Val3459Ala)
c.3462T>C
c.7657T>C
c.4823T>C (p.Val1608Ala)
c.7702T>C
c.10757T>C (p.Val3586Ala)
c.911T>C (p.Val304Ala)
c.2113T>C
c.145T>C
c.1854T>C
c.4248T>C (n.4248T>C)
c.10631T>C (p.Val3544Ala)
n.4560T>C
c.10760T>C (p.Val3587Ala)
2g.73572634T>GCA347285306ALMS1c.10376T>G (p.Val3459Gly)
c.3462T>G
c.7657T>G
c.4823T>G (p.Val1608Gly)
c.7702T>G
c.10757T>G (p.Val3586Gly)
c.911T>G (p.Val304Gly)
c.2113T>G
c.145T>G
c.1854T>G
c.4248T>G (n.4248T>G)
c.10631T>G (p.Val3544Gly)
n.4560T>G
c.10760T>G (p.Val3587Gly)
2g.73572635C>ACA427024435ALMS1c.10377C>A (p.Val3459=)
c.3463C>A
c.7658C>A
c.4824C>A (p.Val1608=)
c.7703C>A
c.10758C>A (p.Val3586=)
c.912C>A (p.Val304=)
c.2114C>A
c.146C>A
c.1855C>A
c.4249C>A (n.4249C>A)
c.10632C>A (p.Val3544=)
n.4561C>A
c.10761C>A (p.Val3587=)
2g.73572635C>GCA427024436ALMS1c.10377C>G (p.Val3459=)
c.3463C>G
c.7658C>G
c.4824C>G (p.Val1608=)
c.7703C>G
c.10758C>G (p.Val3586=)
c.912C>G (p.Val304=)
c.2114C>G
c.146C>G
c.1855C>G
c.4249C>G (n.4249C>G)
c.10632C>G (p.Val3544=)
n.4561C>G
c.10761C>G (p.Val3587=)
2g.73572635C>TCA427024437ALMS1c.10377C>T (p.Val3459=)
c.3463C>T
c.7658C>T
c.4824C>T (p.Val1608=)
c.7703C>T
c.10758C>T (p.Val3586=)
c.912C>T (p.Val304=)
c.2114C>T
c.146C>T
c.1855C>T
c.4249C>T (n.4249C>T)
c.10632C>T (p.Val3544=)
n.4561C>T
c.10761C>T (p.Val3587=)
2g.73572636A>CCA347285313ALMS1c.10378A>C (p.Thr3460Pro)
c.3464A>C
c.7659A>C
c.4825A>C (p.Thr1609Pro)
c.7704A>C
c.10759A>C (p.Thr3587Pro)
c.913A>C (p.Thr305Pro)
c.2115A>C
c.147A>C
c.1856A>C
c.4250A>C (n.4250A>C)
c.10633A>C (p.Thr3545Pro)
n.4562A>C
c.10762A>C (p.Thr3588Pro)
2g.73572636A>GCA347285316ALMS1c.10378A>G (p.Thr3460Ala)
c.3464A>G
c.7659A>G
c.4825A>G (p.Thr1609Ala)
c.7704A>G
c.10759A>G (p.Thr3587Ala)
c.913A>G (p.Thr305Ala)
c.2115A>G
c.147A>G
c.1856A>G
c.4250A>G (n.4250A>G)
c.10633A>G (p.Thr3545Ala)
n.4562A>G
c.10762A>G (p.Thr3588Ala)
 ClinVar gnomAD v4
2g.73572636A>TCA347285318ALMS1c.10378A>T (p.Thr3460Ser)
c.3464A>T
c.7659A>T
c.4825A>T (p.Thr1609Ser)
c.7704A>T
c.10759A>T (p.Thr3587Ser)
c.913A>T (p.Thr305Ser)
c.2115A>T
c.147A>T
c.1856A>T
c.4250A>T (n.4250A>T)
c.10633A>T (p.Thr3545Ser)
n.4562A>T
c.10762A>T (p.Thr3588Ser)
2g.73572637C>ACA347285321ALMS1c.10379C>A (p.Thr3460Asn)
c.3465C>A
c.7660C>A
c.4826C>A (p.Thr1609Asn)
c.7705C>A
c.10760C>A (p.Thr3587Asn)
c.914C>A (p.Thr305Asn)
c.2116C>A
c.148C>A
c.1857C>A
c.4251C>A (n.4251C>A)
c.10634C>A (p.Thr3545Asn)
n.4563C>A
c.10763C>A (p.Thr3588Asn)
 gnomAD v4
2g.73572637C>GCA347285323ALMS1c.10379C>G (p.Thr3460Ser)
c.3465C>G
c.7660C>G
c.4826C>G (p.Thr1609Ser)
c.7705C>G
c.10760C>G (p.Thr3587Ser)
c.914C>G (p.Thr305Ser)
c.2116C>G
c.148C>G
c.1857C>G
c.4251C>G (n.4251C>G)
c.10634C>G (p.Thr3545Ser)
n.4563C>G
c.10763C>G (p.Thr3588Ser)
2g.73572637C>TCA347285324ALMS1c.10379C>T (p.Thr3460Ile)
c.3465C>T
c.7660C>T
c.4826C>T (p.Thr1609Ile)
c.7705C>T
c.10760C>T (p.Thr3587Ile)
c.914C>T (p.Thr305Ile)
c.2116C>T
c.148C>T
c.1857C>T
c.4251C>T (n.4251C>T)
c.10634C>T (p.Thr3545Ile)
n.4563C>T
c.10763C>T (p.Thr3588Ile)
2g.73572638C>ACA427024442ALMS1c.10380C>A (p.Thr3460=)
c.3466C>A
c.7661C>A
c.4827C>A (p.Thr1609=)
c.7706C>A
c.10761C>A (p.Thr3587=)
c.915C>A (p.Thr305=)
c.2117C>A
c.149C>A
c.1858C>A
c.4252C>A (n.4252C>A)
c.10635C>A (p.Thr3545=)
n.4564C>A
c.10764C>A (p.Thr3588=)
2g.73572638C>GCA427024443ALMS1c.10380C>G (p.Thr3460=)
c.3466C>G
c.7661C>G
c.4827C>G (p.Thr1609=)
c.7706C>G
c.10761C>G (p.Thr3587=)
c.915C>G (p.Thr305=)
c.2117C>G
c.149C>G
c.1858C>G
c.4252C>G (n.4252C>G)
c.10635C>G (p.Thr3545=)
n.4564C>G
c.10764C>G (p.Thr3588=)
2g.73572638C>TCA427024444ALMS1c.10380C>T (p.Thr3460=)
c.3466C>T
c.7661C>T
c.4827C>T (p.Thr1609=)
c.7706C>T
c.10761C>T (p.Thr3587=)
c.915C>T (p.Thr305=)
c.2117C>T
c.149C>T
c.1858C>T
c.4252C>T (n.4252C>T)
c.10635C>T (p.Thr3545=)
n.4564C>T
c.10764C>T (p.Thr3588=)
2g.73572639C>ACA347285327ALMS1c.10381C>A (p.Pro3461Thr)
c.3467C>A
c.7662C>A
c.4828C>A (p.Pro1610Thr)
c.7707C>A
c.10762C>A (p.Pro3588Thr)
c.916C>A (p.Pro306Thr)
c.2118C>A
c.150C>A
c.1859C>A
c.4253C>A (n.4253C>A)
c.10636C>A (p.Pro3546Thr)
n.4565C>A
c.10765C>A (p.Pro3589Thr)
2g.73572639C>GCA347285330ALMS1c.10381C>G (p.Pro3461Ala)
c.3467C>G
c.7662C>G
c.4828C>G (p.Pro1610Ala)
c.7707C>G
c.10762C>G (p.Pro3588Ala)
c.916C>G (p.Pro306Ala)
c.2118C>G
c.150C>G
c.1859C>G
c.4253C>G (n.4253C>G)
c.10636C>G (p.Pro3546Ala)
n.4565C>G
c.10765C>G (p.Pro3589Ala)
2g.73572639C>TCA347285332ALMS1c.10381C>T (p.Pro3461Ser)
c.3467C>T
c.7662C>T
c.4828C>T (p.Pro1610Ser)
c.7707C>T
c.10762C>T (p.Pro3588Ser)
c.916C>T (p.Pro306Ser)
c.2118C>T
c.150C>T
c.1859C>T
c.4253C>T (n.4253C>T)
c.10636C>T (p.Pro3546Ser)
n.4565C>T
c.10765C>T (p.Pro3589Ser)
2g.73572640C>ACA347285334ALMS1c.10382C>A (p.Pro3461Gln)
c.3468C>A
c.7663C>A
c.4829C>A (p.Pro1610Gln)
c.7708C>A
c.10763C>A (p.Pro3588Gln)
c.917C>A (p.Pro306Gln)
c.2119C>A
c.151C>A
c.1860C>A
c.4254C>A (n.4254C>A)
c.10637C>A (p.Pro3546Gln)
n.4566C>A
c.10766C>A (p.Pro3589Gln)
 dbSNP gnomAD v2 gnomAD v4
2g.73572640C=CA1261021455ALMS1c.10382C= (p.Pro3461=)
c.3468C=
c.7663C=
c.4829C= (p.Pro1610=)
c.7708C=
c.10763C= (p.Pro3588=)
c.917C= (p.Pro306=)
c.2119C=
c.151C=
c.1860C=
c.4254C= (n.4254C=)
c.10637C= (p.Pro3546=)
n.4566C=
c.10766C= (p.Pro3589=)
2g.73572640C>GCA347285337ALMS1c.10382C>G (p.Pro3461Arg)
c.3468C>G
c.7663C>G
c.4829C>G (p.Pro1610Arg)
c.7708C>G
c.10763C>G (p.Pro3588Arg)
c.917C>G (p.Pro306Arg)
c.2119C>G
c.151C>G
c.1860C>G
c.4254C>G (n.4254C>G)
c.10637C>G (p.Pro3546Arg)
n.4566C>G
c.10766C>G (p.Pro3589Arg)
 gnomAD v4
2g.73572640C>TCA347285339ALMS1c.10382C>T (p.Pro3461Leu)
c.3468C>T
c.7663C>T
c.4829C>T (p.Pro1610Leu)
c.7708C>T
c.10763C>T (p.Pro3588Leu)
c.917C>T (p.Pro306Leu)
c.2119C>T
c.151C>T
c.1860C>T
c.4254C>T (n.4254C>T)
c.10637C>T (p.Pro3546Leu)
n.4566C>T
c.10766C>T (p.Pro3589Leu)
2g.73572641A=CA1261021462ALMS1c.10383A= (p.Pro3461=)
c.3469A=
c.7664A=
c.4830A= (p.Pro1610=)
c.7709A=
c.10764A= (p.Pro3588=)
c.918A= (p.Pro306=)
c.2120A=
c.152A=
c.1861A=
c.4255A= (n.4255A=)
c.10638A= (p.Pro3546=)
n.4567A=
c.10767A= (p.Pro3589=)
2g.73572641A>CCA427024451ALMS1c.10383A>C (p.Pro3461=)
c.3469A>C
c.7664A>C
c.4830A>C (p.Pro1610=)
c.7709A>C
c.10764A>C (p.Pro3588=)
c.918A>C (p.Pro306=)
c.2120A>C
c.152A>C
c.1861A>C
c.4255A>C (n.4255A>C)
c.10638A>C (p.Pro3546=)
n.4567A>C
c.10767A>C (p.Pro3589=)
2g.73572641A>GCA427024448ALMS1c.10383A>G (p.Pro3461=)
c.3469A>G
c.7664A>G
c.4830A>G (p.Pro1610=)
c.7709A>G
c.10764A>G (p.Pro3588=)
c.918A>G (p.Pro306=)
c.2120A>G
c.152A>G
c.1861A>G
c.4255A>G (n.4255A>G)
c.10638A>G (p.Pro3546=)
n.4567A>G
c.10767A>G (p.Pro3589=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572641A>TCA427024450ALMS1c.10383A>T (p.Pro3461=)
c.3469A>T
c.7664A>T
c.4830A>T (p.Pro1610=)
c.7709A>T
c.10764A>T (p.Pro3588=)
c.918A>T (p.Pro306=)
c.2120A>T
c.152A>T
c.1861A>T
c.4255A>T (n.4255A>T)
c.10638A>T (p.Pro3546=)
n.4567A>T
c.10767A>T (p.Pro3589=)
2g.73572642G>ACA347285348ALMS1c.10384G>A (p.Glu3462Lys)
c.3470G>A
c.7665G>A
c.4831G>A (p.Glu1611Lys)
c.7710G>A
c.10765G>A (p.Glu3589Lys)
c.919G>A (p.Glu307Lys)
c.2121G>A
c.153G>A
c.1862G>A
c.4256G>A (n.4256G>A)
c.10639G>A (p.Glu3547Lys)
n.4568G>A
c.10768G>A (p.Glu3590Lys)
2g.73572642G>CCA347285345ALMS1c.10384G>C (p.Glu3462Gln)
c.3470G>C
c.7665G>C
c.4831G>C (p.Glu1611Gln)
c.7710G>C
c.10765G>C (p.Glu3589Gln)
c.919G>C (p.Glu307Gln)
c.2121G>C
c.153G>C
c.1862G>C
c.4256G>C (n.4256G>C)
c.10639G>C (p.Glu3547Gln)
n.4568G>C
c.10768G>C (p.Glu3590Gln)
2g.73572642G>TCA347285343ALMS1c.10384G>T (p.Glu3462Ter)
c.3470G>T
c.7665G>T
c.4831G>T (p.Glu1611Ter)
c.7710G>T
c.10765G>T (p.Glu3589Ter)
c.919G>T (p.Glu307Ter)
c.2121G>T
c.153G>T
c.1862G>T
c.4256G>T (n.4256G>T)
c.10639G>T (p.Glu3547Ter)
n.4568G>T
c.10768G>T (p.Glu3590Ter)
2g.73572643delCA2573052023ALMS1c.10385del (p.Glu3462GlyfsTer8)
c.3471del
c.7666del
c.4832del (p.Glu1611GlyfsTer8)
c.7711del
c.10766del (p.Glu3589GlyfsTer8)
c.920del (p.Glu307GlyfsTer8)
c.2122del
c.154del
c.1863del
c.4257del (n.4257del)
c.10640del (p.Glu3547GlyfsTer8)
n.4569del
c.10769del (p.Glu3590GlyfsTer8)
 ClinVar dbSNP
2g.73572643A=CA1261021467ALMS1c.10385A= (p.Glu3462=)
c.3471A=
c.7666A=
c.4832A= (p.Glu1611=)
c.7711A=
c.10766A= (p.Glu3589=)
c.920A= (p.Glu307=)
c.2122A=
c.154A=
c.1863A=
c.4257A= (n.4257A=)
c.10640A= (p.Glu3547=)
n.4569A=
c.10769A= (p.Glu3590=)
2g.73572643A>CCA347285350ALMS1c.10385A>C (p.Glu3462Ala)
c.3471A>C
c.7666A>C
c.4832A>C (p.Glu1611Ala)
c.7711A>C
c.10766A>C (p.Glu3589Ala)
c.920A>C (p.Glu307Ala)
c.2122A>C
c.154A>C
c.1863A>C
c.4257A>C (n.4257A>C)
c.10640A>C (p.Glu3547Ala)
n.4569A>C
c.10769A>C (p.Glu3590Ala)
2g.73572643A>GCA347285353ALMS1c.10385A>G (p.Glu3462Gly)
c.3471A>G
c.7666A>G
c.4832A>G (p.Glu1611Gly)
c.7711A>G
c.10766A>G (p.Glu3589Gly)
c.920A>G (p.Glu307Gly)
c.2122A>G
c.154A>G
c.1863A>G
c.4257A>G (n.4257A>G)
c.10640A>G (p.Glu3547Gly)
n.4569A>G
c.10769A>G (p.Glu3590Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572643A>TCA347285354ALMS1c.10385A>T (p.Glu3462Val)
c.3471A>T
c.7666A>T
c.4832A>T (p.Glu1611Val)
c.7711A>T
c.10766A>T (p.Glu3589Val)
c.920A>T (p.Glu307Val)
c.2122A>T
c.154A>T
c.1863A>T
c.4257A>T (n.4257A>T)
c.10640A>T (p.Glu3547Val)
n.4569A>T
c.10769A>T (p.Glu3590Val)
2g.73572644G>ACA427024458ALMS1c.10386G>A (p.Glu3462=)
c.3472G>A
c.7667G>A
c.4833G>A (p.Glu1611=)
c.7712G>A
c.10767G>A (p.Glu3589=)
c.921G>A (p.Glu307=)
c.2123G>A
c.155G>A
c.1864G>A
c.4258G>A (n.4258G>A)
c.10641G>A (p.Glu3547=)
n.4570G>A
c.10770G>A (p.Glu3590=)
2g.73572644G>CCA347285359ALMS1c.10386G>C (p.Glu3462Asp)
c.3472G>C
c.7667G>C
c.4833G>C (p.Glu1611Asp)
c.7712G>C
c.10767G>C (p.Glu3589Asp)
c.921G>C (p.Glu307Asp)
c.2123G>C
c.155G>C
c.1864G>C
c.4258G>C (n.4258G>C)
c.10641G>C (p.Glu3547Asp)
n.4570G>C
c.10770G>C (p.Glu3590Asp)
2g.73572644G>TCA347285360ALMS1c.10386G>T (p.Glu3462Asp)
c.3472G>T
c.7667G>T
c.4833G>T (p.Glu1611Asp)
c.7712G>T
c.10767G>T (p.Glu3589Asp)
c.921G>T (p.Glu307Asp)
c.2123G>T
c.155G>T
c.1864G>T
c.4258G>T (n.4258G>T)
c.10641G>T (p.Glu3547Asp)
n.4570G>T
c.10770G>T (p.Glu3590Asp)
2g.73572645C>ACA347285365ALMS1c.10387C>A (p.Gln3463Lys)
c.3473C>A
c.7668C>A
c.4834C>A (p.Gln1612Lys)
c.7713C>A
c.10768C>A (p.Gln3590Lys)
c.922C>A (p.Gln308Lys)
c.2124C>A
c.156C>A
c.1865C>A
c.4259C>A (n.4259C>A)
c.10642C>A (p.Gln3548Lys)
n.4571C>A
c.10771C>A (p.Gln3591Lys)
 gnomAD v4
2g.73572645C=CA1261021471ALMS1c.10387C= (p.Gln3463=)
c.3473C=
c.7668C=
c.4834C= (p.Gln1612=)
c.7713C=
c.10768C= (p.Gln3590=)
c.922C= (p.Gln308=)
c.2124C=
c.156C=
c.1865C=
c.4259C= (n.4259C=)
c.10642C= (p.Gln3548=)
n.4571C=
c.10771C= (p.Gln3591=)
2g.73572645C>GCA347285367ALMS1c.10387C>G (p.Gln3463Glu)
c.3473C>G
c.7668C>G
c.4834C>G (p.Gln1612Glu)
c.7713C>G
c.10768C>G (p.Gln3590Glu)
c.922C>G (p.Gln308Glu)
c.2124C>G
c.156C>G
c.1865C>G
c.4259C>G (n.4259C>G)
c.10642C>G (p.Gln3548Glu)
n.4571C>G
c.10771C>G (p.Gln3591Glu)
 ClinVar dbSNP
2g.73572645C>TCA347285368ALMS1c.10387C>T (p.Gln3463Ter)
c.3473C>T
c.7668C>T
c.4834C>T (p.Gln1612Ter)
c.7713C>T
c.10768C>T (p.Gln3590Ter)
c.922C>T (p.Gln308Ter)
c.2124C>T
c.156C>T
c.1865C>T
c.4259C>T (n.4259C>T)
c.10642C>T (p.Gln3548Ter)
n.4571C>T
c.10771C>T (p.Gln3591Ter)
2g.73572646A>CCA347285370ALMS1c.10388A>C (p.Gln3463Pro)
c.3474A>C
c.7669A>C
c.4835A>C (p.Gln1612Pro)
c.7714A>C
c.10769A>C (p.Gln3590Pro)
c.923A>C (p.Gln308Pro)
c.2125A>C
c.157A>C
c.1866A>C
c.4260A>C (n.4260A>C)
c.10643A>C (p.Gln3548Pro)
n.4572A>C
c.10772A>C (p.Gln3591Pro)
2g.73572646A>GCA347285372ALMS1c.10388A>G (p.Gln3463Arg)
c.3474A>G
c.7669A>G
c.4835A>G (p.Gln1612Arg)
c.7714A>G
c.10769A>G (p.Gln3590Arg)
c.923A>G (p.Gln308Arg)
c.2125A>G
c.157A>G
c.1866A>G
c.4260A>G (n.4260A>G)
c.10643A>G (p.Gln3548Arg)
n.4572A>G
c.10772A>G (p.Gln3591Arg)
2g.73572646A>TCA347285375ALMS1c.10388A>T (p.Gln3463Leu)
c.3474A>T
c.7669A>T
c.4835A>T (p.Gln1612Leu)
c.7714A>T
c.10769A>T (p.Gln3590Leu)
c.923A>T (p.Gln308Leu)
c.2125A>T
c.157A>T
c.1866A>T
c.4260A>T (n.4260A>T)
c.10643A>T (p.Gln3548Leu)
n.4572A>T
c.10772A>T (p.Gln3591Leu)
2g.73572648delCA2499216272ALMS1c.10390del (p.Thr3464GlnfsTer6)
c.3476del
c.7671del
c.4837del (p.Thr1613GlnfsTer6)
c.7716del
c.10771del (p.Thr3591GlnfsTer6)
c.925del (p.Thr309GlnfsTer6)
c.2127del
c.159del
c.1868del
c.4262del (n.4262del)
c.10645del (p.Thr3549GlnfsTer6)
n.4574del
c.10774del (p.Thr3592GlnfsTer6)
 ClinVar dbSNP
2g.73572647A>CCA347285377ALMS1c.10389A>C (p.Gln3463His)
c.3475A>C
c.7670A>C
c.4836A>C (p.Gln1612His)
c.7715A>C
c.10770A>C (p.Gln3590His)
c.924A>C (p.Gln308His)
c.2126A>C
c.158A>C
c.1867A>C
c.4261A>C (n.4261A>C)
c.10644A>C (p.Gln3548His)
n.4573A>C
c.10773A>C (p.Gln3591His)
2g.73572647A>GCA427024461ALMS1c.10389A>G (p.Gln3463=)
c.3475A>G
c.7670A>G
c.4836A>G (p.Gln1612=)
c.7715A>G
c.10770A>G (p.Gln3590=)
c.924A>G (p.Gln308=)
c.2126A>G
c.158A>G
c.1867A>G
c.4261A>G (n.4261A>G)
c.10644A>G (p.Gln3548=)
n.4573A>G
c.10773A>G (p.Gln3591=)
2g.73572647A>TCA347285379ALMS1c.10389A>T (p.Gln3463His)
c.3475A>T
c.7670A>T
c.4836A>T (p.Gln1612His)
c.7715A>T
c.10770A>T (p.Gln3590His)
c.924A>T (p.Gln308His)
c.2126A>T
c.158A>T
c.1867A>T
c.4261A>T (n.4261A>T)
c.10644A>T (p.Gln3548His)
n.4573A>T
c.10773A>T (p.Gln3591His)
2g.73572648A>CCA347285384ALMS1c.10390A>C (p.Thr3464Pro)
c.3476A>C
c.7671A>C
c.4837A>C (p.Thr1613Pro)
c.7716A>C
c.10771A>C (p.Thr3591Pro)
c.925A>C (p.Thr309Pro)
c.2127A>C
c.159A>C
c.1868A>C
c.4262A>C (n.4262A>C)
c.10645A>C (p.Thr3549Pro)
n.4574A>C
c.10774A>C (p.Thr3592Pro)
2g.73572648A>GCA347285388ALMS1c.10390A>G (p.Thr3464Ala)
c.3476A>G
c.7671A>G
c.4837A>G (p.Thr1613Ala)
c.7716A>G
c.10771A>G (p.Thr3591Ala)
c.925A>G (p.Thr309Ala)
c.2127A>G
c.159A>G
c.1868A>G
c.4262A>G (n.4262A>G)
c.10645A>G (p.Thr3549Ala)
n.4574A>G
c.10774A>G (p.Thr3592Ala)
 ClinVar
2g.73572648A>TCA347285386ALMS1c.10390A>T (p.Thr3464Ser)
c.3476A>T
c.7671A>T
c.4837A>T (p.Thr1613Ser)
c.7716A>T
c.10771A>T (p.Thr3591Ser)
c.925A>T (p.Thr309Ser)
c.2127A>T
c.159A>T
c.1868A>T
c.4262A>T (n.4262A>T)
c.10645A>T (p.Thr3549Ser)
n.4574A>T
c.10774A>T (p.Thr3592Ser)
2g.73572648_73572649delinsACCA1261021474ALMS1c.10390_10391delinsAC (p.Thr3464=)
c.3476_3477delinsAC
c.7671_7672delinsAC
c.4837_4838delinsAC (p.Thr1613=)
c.7716_7717delinsAC
c.10771_10772delinsAC (p.Thr3591=)
c.925_926delinsAC (p.Thr309=)
c.2127_2128delinsAC
c.159_160delinsAC
c.1868_1869delinsAC
c.4262_4263delinsAC (n.4262_4263delinsAC)
c.10645_10646delinsAC (p.Thr3549=)
n.4574_4575delinsAC
c.10774_10775delinsAC (p.Thr3592=)
2g.73572649delCA252953ALMS1c.10391del (p.Thr3464LysfsTer6)
c.3477del
c.7672del
c.4838del (p.Thr1613LysfsTer6)
c.7717del
c.10772del (p.Thr3591LysfsTer6)
c.926del (p.Thr309LysfsTer6)
c.2128del
c.160del
c.1869del
c.4263del (n.4263del)
c.10646del (p.Thr3549LysfsTer6)
n.4575del
c.10775del (p.Thr3592LysfsTer6)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572649C>ACA1715055ALMS1c.10391C>A (p.Thr3464Lys)
c.3477C>A
c.7672C>A
c.4838C>A (p.Thr1613Lys)
c.7717C>A
c.10772C>A (p.Thr3591Lys)
c.926C>A (p.Thr309Lys)
c.2128C>A
c.160C>A
c.1869C>A
c.4263C>A (n.4263C>A)
c.10646C>A (p.Thr3549Lys)
n.4575C>A
c.10775C>A (p.Thr3592Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572649C=CA1261021484ALMS1c.10391C= (p.Thr3464=)
c.3477C=
c.7672C=
c.4838C= (p.Thr1613=)
c.7717C=
c.10772C= (p.Thr3591=)
c.926C= (p.Thr309=)
c.2128C=
c.160C=
c.1869C=
c.4263C= (n.4263C=)
c.10646C= (p.Thr3549=)
n.4575C=
c.10775C= (p.Thr3592=)
2g.73572649C>GCA347285394ALMS1c.10391C>G (p.Thr3464Arg)
c.3477C>G
c.7672C>G
c.4838C>G (p.Thr1613Arg)
c.7717C>G
c.10772C>G (p.Thr3591Arg)
c.926C>G (p.Thr309Arg)
c.2128C>G
c.160C>G
c.1869C>G
c.4263C>G (n.4263C>G)
c.10646C>G (p.Thr3549Arg)
n.4575C>G
c.10775C>G (p.Thr3592Arg)
 gnomAD v4
2g.73572649C>TCA347285395ALMS1c.10391C>T (p.Thr3464Ile)
c.3477C>T
c.7672C>T
c.4838C>T (p.Thr1613Ile)
c.7717C>T
c.10772C>T (p.Thr3591Ile)
c.926C>T (p.Thr309Ile)
c.2128C>T
c.160C>T
c.1869C>T
c.4263C>T (n.4263C>T)
c.10646C>T (p.Thr3549Ile)
n.4575C>T
c.10775C>T (p.Thr3592Ile)
 ClinVar dbSNP gnomAD v4
2g.73572649_73572650delinsCACA1261021489ALMS1c.10391_10392delinsCA (p.Thr3464=)
c.3477_3478delinsCA
c.7672_7673delinsCA
c.4838_4839delinsCA (p.Thr1613=)
c.7717_7718delinsCA
c.10772_10773delinsCA (p.Thr3591=)
c.926_927delinsCA (p.Thr309=)
c.2128_2129delinsCA
c.160_161delinsCA
c.1869_1870delinsCA
c.4263_4264delinsCA (n.4263_4264delinsCA)
c.10646_10647delinsCA (p.Thr3549=)
n.4575_4576delinsCA
c.10775_10776delinsCA (p.Thr3592=)
2g.73572650A>CCA427024473ALMS1c.10392A>C (p.Thr3464=)
c.3478A>C
c.7673A>C
c.4839A>C (p.Thr1613=)
c.7718A>C
c.10773A>C (p.Thr3591=)
c.927A>C (p.Thr309=)
c.2129A>C
c.161A>C
c.1870A>C
c.4264A>C (n.4264A>C)
c.10647A>C (p.Thr3549=)
n.4576A>C
c.10776A>C (p.Thr3592=)
2g.73572650A>GCA427024476ALMS1c.10392A>G (p.Thr3464=)
c.3478A>G
c.7673A>G
c.4839A>G (p.Thr1613=)
c.7718A>G
c.10773A>G (p.Thr3591=)
c.927A>G (p.Thr309=)
c.2129A>G
c.161A>G
c.1870A>G
c.4264A>G (n.4264A>G)
c.10647A>G (p.Thr3549=)
n.4576A>G
c.10776A>G (p.Thr3592=)
2g.73572650A>TCA427024478ALMS1c.10392A>T (p.Thr3464=)
c.3478A>T
c.7673A>T
c.4839A>T (p.Thr1613=)
c.7718A>T
c.10773A>T (p.Thr3591=)
c.927A>T (p.Thr309=)
c.2129A>T
c.161A>T
c.1870A>T
c.4264A>T (n.4264A>T)
c.10647A>T (p.Thr3549=)
n.4576A>T
c.10776A>T (p.Thr3592=)
 gnomAD v4
2g.73572651delCA347285399ALMS1c.10393del (p.Thr3465LeufsTer5)
c.3479del
c.7674del
c.4840del (p.Thr1614LeufsTer5)
c.7719del
c.10774del (p.Thr3592LeufsTer5)
c.928del (p.Thr310LeufsTer5)
c.2130del
c.162del
c.1871del
c.4265del (n.4265del)
c.10648del (p.Thr3550LeufsTer5)
n.4577del
c.10777del (p.Thr3593LeufsTer5)
 dbSNP
2g.73572651A=CA1261021498ALMS1c.10393A= (p.Thr3465=)
c.3479A=
c.7674A=
c.4840A= (p.Thr1614=)
c.7719A=
c.10774A= (p.Thr3592=)
c.928A= (p.Thr310=)
c.2130A=
c.162A=
c.1871A=
c.4265A= (n.4265A=)
c.10648A= (p.Thr3550=)
n.4577A=
c.10777A= (p.Thr3593=)
2g.73572651A>CCA1715056ALMS1c.10393A>C (p.Thr3465Pro)
c.3479A>C
c.7674A>C
c.4840A>C (p.Thr1614Pro)
c.7719A>C
c.10774A>C (p.Thr3592Pro)
c.928A>C (p.Thr310Pro)
c.2130A>C
c.162A>C
c.1871A>C
c.4265A>C (n.4265A>C)
c.10648A>C (p.Thr3550Pro)
n.4577A>C
c.10777A>C (p.Thr3593Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572651A>GCA1715057ALMS1c.10393A>G (p.Thr3465Ala)
c.3479A>G
c.7674A>G
c.4840A>G (p.Thr1614Ala)
c.7719A>G
c.10774A>G (p.Thr3592Ala)
c.928A>G (p.Thr310Ala)
c.2130A>G
c.162A>G
c.1871A>G
c.4265A>G (n.4265A>G)
c.10648A>G (p.Thr3550Ala)
n.4577A>G
c.10777A>G (p.Thr3593Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572651A>TCA347285406ALMS1c.10393A>T (p.Thr3465Ser)
c.3479A>T
c.7674A>T
c.4840A>T (p.Thr1614Ser)
c.7719A>T
c.10774A>T (p.Thr3592Ser)
c.928A>T (p.Thr310Ser)
c.2130A>T
c.162A>T
c.1871A>T
c.4265A>T (n.4265A>T)
c.10648A>T (p.Thr3550Ser)
n.4577A>T
c.10777A>T (p.Thr3593Ser)
2g.73572652C>ACA347285410ALMS1c.10394C>A (p.Thr3465Asn)
c.3480C>A
c.7675C>A
c.4841C>A (p.Thr1614Asn)
c.7720C>A
c.10775C>A (p.Thr3592Asn)
c.929C>A (p.Thr310Asn)
c.2131C>A
c.163C>A
c.1872C>A
c.4266C>A (n.4266C>A)
c.10649C>A (p.Thr3550Asn)
n.4578C>A
c.10778C>A (p.Thr3593Asn)
2g.73572652C>GCA347285412ALMS1c.10394C>G (p.Thr3465Ser)
c.3480C>G
c.7675C>G
c.4841C>G (p.Thr1614Ser)
c.7720C>G
c.10775C>G (p.Thr3592Ser)
c.929C>G (p.Thr310Ser)
c.2131C>G
c.163C>G
c.1872C>G
c.4266C>G (n.4266C>G)
c.10649C>G (p.Thr3550Ser)
n.4578C>G
c.10778C>G (p.Thr3593Ser)
2g.73572652C>TCA347285415ALMS1c.10394C>T (p.Thr3465Ile)
c.3480C>T
c.7675C>T
c.4841C>T (p.Thr1614Ile)
c.7720C>T
c.10775C>T (p.Thr3592Ile)
c.929C>T (p.Thr310Ile)
c.2131C>T
c.163C>T
c.1872C>T
c.4266C>T (n.4266C>T)
c.10649C>T (p.Thr3550Ile)
n.4578C>T
c.10778C>T (p.Thr3593Ile)
2g.73572653T>ACA427024480ALMS1c.10395T>A (p.Thr3465=)
c.3481T>A
c.7676T>A
c.4842T>A (p.Thr1614=)
c.7721T>A
c.10776T>A (p.Thr3592=)
c.930T>A (p.Thr310=)
c.2132T>A
c.164T>A
c.1873T>A
c.4267T>A (n.4267T>A)
c.10650T>A (p.Thr3550=)
n.4579T>A
c.10779T>A (p.Thr3593=)
2g.73572653T>CCA427024482ALMS1c.10395T>C (p.Thr3465=)
c.3481T>C
c.7676T>C
c.4842T>C (p.Thr1614=)
c.7721T>C
c.10776T>C (p.Thr3592=)
c.930T>C (p.Thr310=)
c.2132T>C
c.164T>C
c.1873T>C
c.4267T>C (n.4267T>C)
c.10650T>C (p.Thr3550=)
n.4579T>C
c.10779T>C (p.Thr3593=)
2g.73572653T>GCA427024481ALMS1c.10395T>G (p.Thr3465=)
c.3481T>G
c.7676T>G
c.4842T>G (p.Thr1614=)
c.7721T>G
c.10776T>G (p.Thr3592=)
c.930T>G (p.Thr310=)
c.2132T>G
c.164T>G
c.1873T>G
c.4267T>G (n.4267T>G)
c.10650T>G (p.Thr3550=)
n.4579T>G
c.10779T>G (p.Thr3593=)
 ClinVar dbSNP
2g.73572654C>ACA347285422ALMS1c.10396C>A (p.Gln3466Lys)
c.3482C>A
c.7677C>A
c.4843C>A (p.Gln1615Lys)
c.7722C>A
c.10777C>A (p.Gln3593Lys)
c.931C>A (p.Gln311Lys)
c.2133C>A
c.165C>A
c.1874C>A
c.4268C>A (n.4268C>A)
c.10651C>A (p.Gln3551Lys)
n.4580C>A
c.10780C>A (p.Gln3594Lys)
2g.73572654C>GCA347285423ALMS1c.10396C>G (p.Gln3466Glu)
c.3482C>G
c.7677C>G
c.4843C>G (p.Gln1615Glu)
c.7722C>G
c.10777C>G (p.Gln3593Glu)
c.931C>G (p.Gln311Glu)
c.2133C>G
c.165C>G
c.1874C>G
c.4268C>G (n.4268C>G)
c.10651C>G (p.Gln3551Glu)
n.4580C>G
c.10780C>G (p.Gln3594Glu)
2g.73572654C>TCA347285419ALMS1c.10396C>T (p.Gln3466Ter)
c.3482C>T
c.7677C>T
c.4843C>T (p.Gln1615Ter)
c.7722C>T
c.10777C>T (p.Gln3593Ter)
c.931C>T (p.Gln311Ter)
c.2133C>T
c.165C>T
c.1874C>T
c.4268C>T (n.4268C>T)
c.10651C>T (p.Gln3551Ter)
n.4580C>T
c.10780C>T (p.Gln3594Ter)
2g.73572655A=CA1261021507ALMS1c.10397A= (p.Gln3466=)
c.3483A=
c.7678A=
c.4844A= (p.Gln1615=)
c.7723A=
c.10778A= (p.Gln3593=)
c.932A= (p.Gln311=)
c.2134A=
c.166A=
c.1875A=
c.4269A= (n.4269A=)
c.10652A= (p.Gln3551=)
n.4581A=
c.10781A= (p.Gln3594=)
2g.73572655A>CCA347285429ALMS1c.10397A>C (p.Gln3466Pro)
c.3483A>C
c.7678A>C
c.4844A>C (p.Gln1615Pro)
c.7723A>C
c.10778A>C (p.Gln3593Pro)
c.932A>C (p.Gln311Pro)
c.2134A>C
c.166A>C
c.1875A>C
c.4269A>C (n.4269A>C)
c.10652A>C (p.Gln3551Pro)
n.4581A>C
c.10781A>C (p.Gln3594Pro)
 gnomAD v4
2g.73572655A>GCA50386440ALMS1c.10397A>G (p.Gln3466Arg)
c.3483A>G
c.7678A>G
c.4844A>G (p.Gln1615Arg)
c.7723A>G
c.10778A>G (p.Gln3593Arg)
c.932A>G (p.Gln311Arg)
c.2134A>G
c.166A>G
c.1875A>G
c.4269A>G (n.4269A>G)
c.10652A>G (p.Gln3551Arg)
n.4581A>G
c.10781A>G (p.Gln3594Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73572655A>TCA347285428ALMS1c.10397A>T (p.Gln3466Leu)
c.3483A>T
c.7678A>T
c.4844A>T (p.Gln1615Leu)
c.7723A>T
c.10778A>T (p.Gln3593Leu)
c.932A>T (p.Gln311Leu)
c.2134A>T
c.166A>T
c.1875A>T
c.4269A>T (n.4269A>T)
c.10652A>T (p.Gln3551Leu)
n.4581A>T
c.10781A>T (p.Gln3594Leu)
2g.73572656G>ACA427024489ALMS1c.10398G>A (p.Gln3466=)
c.3484G>A
c.7679G>A
c.4845G>A (p.Gln1615=)
c.7724G>A
c.10779G>A (p.Gln3593=)
c.933G>A (p.Gln311=)
c.2135G>A
c.167G>A
c.1876G>A
c.4270G>A (n.4270G>A)
c.10653G>A (p.Gln3551=)
n.4582G>A
c.10782G>A (p.Gln3594=)
2g.73572656G>CCA347285431ALMS1c.10398G>C (p.Gln3466His)
c.3484G>C
c.7679G>C
c.4845G>C (p.Gln1615His)
c.7724G>C
c.10779G>C (p.Gln3593His)
c.933G>C (p.Gln311His)
c.2135G>C
c.167G>C
c.1876G>C
c.4270G>C (n.4270G>C)
c.10653G>C (p.Gln3551His)
n.4582G>C
c.10782G>C (p.Gln3594His)
2g.73572656G>TCA347285433ALMS1c.10398G>T (p.Gln3466His)
c.3484G>T
c.7679G>T
c.4845G>T (p.Gln1615His)
c.7724G>T
c.10779G>T (p.Gln3593His)
c.933G>T (p.Gln311His)
c.2135G>T
c.167G>T
c.1876G>T
c.4270G>T (n.4270G>T)
c.10653G>T (p.Gln3551His)
n.4582G>T
c.10782G>T (p.Gln3594His)
 gnomAD v4
2g.73572657C>ACA347285437ALMS1c.10399C>A (p.His3467Asn)
c.3485C>A
c.7680C>A
c.4846C>A (p.His1616Asn)
c.7725C>A
c.10780C>A (p.His3594Asn)
c.934C>A (p.His312Asn)
c.2136C>A
c.168C>A
c.1877C>A
c.4271C>A (n.4271C>A)
c.10654C>A (p.His3552Asn)
n.4583C>A
c.10783C>A (p.His3595Asn)
2g.73572657C>GCA347285440ALMS1c.10399C>G (p.His3467Asp)
c.3485C>G
c.7680C>G
c.4846C>G (p.His1616Asp)
c.7725C>G
c.10780C>G (p.His3594Asp)
c.934C>G (p.His312Asp)
c.2136C>G
c.168C>G
c.1877C>G
c.4271C>G (n.4271C>G)
c.10654C>G (p.His3552Asp)
n.4583C>G
c.10783C>G (p.His3595Asp)
2g.73572657C>TCA347285442ALMS1c.10399C>T (p.His3467Tyr)
c.3485C>T
c.7680C>T
c.4846C>T (p.His1616Tyr)
c.7725C>T
c.10780C>T (p.His3594Tyr)
c.934C>T (p.His312Tyr)
c.2136C>T
c.168C>T
c.1877C>T
c.4271C>T (n.4271C>T)
c.10654C>T (p.His3552Tyr)
n.4583C>T
c.10783C>T (p.His3595Tyr)
2g.73572658A=CA1261021513ALMS1c.10400A= (p.His3467=)
c.3486A=
c.7681A=
c.4847A= (p.His1616=)
c.7726A=
c.10781A= (p.His3594=)
c.935A= (p.His312=)
c.2137A=
c.169A=
c.1878A=
c.4272A= (n.4272A=)
c.10655A= (p.His3552=)
n.4584A=
c.10784A= (p.His3595=)
2g.73572658A>CCA347285446ALMS1c.10400A>C (p.His3467Pro)
c.3486A>C
c.7681A>C
c.4847A>C (p.His1616Pro)
c.7726A>C
c.10781A>C (p.His3594Pro)
c.935A>C (p.His312Pro)
c.2137A>C
c.169A>C
c.1878A>C
c.4272A>C (n.4272A>C)
c.10655A>C (p.His3552Pro)
n.4584A>C
c.10784A>C (p.His3595Pro)
2g.73572658A>GCA347285448ALMS1c.10400A>G (p.His3467Arg)
c.3486A>G
c.7681A>G
c.4847A>G (p.His1616Arg)
c.7726A>G
c.10781A>G (p.His3594Arg)
c.935A>G (p.His312Arg)
c.2137A>G
c.169A>G
c.1878A>G
c.4272A>G (n.4272A>G)
c.10655A>G (p.His3552Arg)
n.4584A>G
c.10784A>G (p.His3595Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.73572658A>TCA347285450ALMS1c.10400A>T (p.His3467Leu)
c.3486A>T
c.7681A>T
c.4847A>T (p.His1616Leu)
c.7726A>T
c.10781A>T (p.His3594Leu)
c.935A>T (p.His312Leu)
c.2137A>T
c.169A>T
c.1878A>T
c.4272A>T (n.4272A>T)
c.10655A>T (p.His3552Leu)
n.4584A>T
c.10784A>T (p.His3595Leu)
2g.73572659C>ACA347285454ALMS1c.10401C>A (p.His3467Gln)
c.3487C>A
c.7682C>A
c.4848C>A (p.His1616Gln)
c.7727C>A
c.10782C>A (p.His3594Gln)
c.936C>A (p.His312Gln)
c.2138C>A
c.170C>A
c.1879C>A
c.4273C>A (n.4273C>A)
c.10656C>A (p.His3552Gln)
n.4585C>A
c.10785C>A (p.His3595Gln)
2g.73572659C>GCA347285456ALMS1c.10401C>G (p.His3467Gln)
c.3487C>G
c.7682C>G
c.4848C>G (p.His1616Gln)
c.7727C>G
c.10782C>G (p.His3594Gln)
c.936C>G (p.His312Gln)
c.2138C>G
c.170C>G
c.1879C>G
c.4273C>G (n.4273C>G)
c.10656C>G (p.His3552Gln)
n.4585C>G
c.10785C>G (p.His3595Gln)
2g.73572659C>TCA427024493ALMS1c.10401C>T (p.His3467=)
c.3487C>T
c.7682C>T
c.4848C>T (p.His1616=)
c.7727C>T
c.10782C>T (p.His3594=)
c.936C>T (p.His312=)
c.2138C>T
c.170C>T
c.1879C>T
c.4273C>T (n.4273C>T)
c.10656C>T (p.His3552=)
n.4585C>T
c.10785C>T (p.His3595=)
 ClinVar
2g.73572659_73572669delCA2697548293ALMS1c.10401_10411del (p.Thr3468GlufsTer2)
c.3487_3497del
c.7682_7692del
c.4848_4858del (p.Thr1617GlufsTer2)
c.7727_7737del
c.10782_10792del (p.Thr3595GlufsTer2)
c.936_946del (p.Thr313GlufsTer2)
c.2138_2148del
c.170_180del
c.1879_1889del
c.4273_4283del (n.4273_4283del)
c.10656_10666del (p.Thr3553GlufsTer2)
n.4585_4595del
c.10785_10795del (p.Thr3596GlufsTer2)
 ClinVar
2g.73572660A>CCA347285464ALMS1c.10402A>C (p.Thr3468Pro)
c.3488A>C
c.7683A>C
c.4849A>C (p.Thr1617Pro)
c.7728A>C
c.10783A>C (p.Thr3595Pro)
c.937A>C (p.Thr313Pro)
c.2139A>C
c.171A>C
c.1880A>C
c.4274A>C (n.4274A>C)
c.10657A>C (p.Thr3553Pro)
n.4586A>C
c.10786A>C (p.Thr3596Pro)
2g.73572660A>GCA347285460ALMS1c.10402A>G (p.Thr3468Ala)
c.3488A>G
c.7683A>G
c.4849A>G (p.Thr1617Ala)
c.7728A>G
c.10783A>G (p.Thr3595Ala)
c.937A>G (p.Thr313Ala)
c.2139A>G
c.171A>G
c.1880A>G
c.4274A>G (n.4274A>G)
c.10657A>G (p.Thr3553Ala)
n.4586A>G
c.10786A>G (p.Thr3596Ala)
2g.73572660A>TCA347285462ALMS1c.10402A>T (p.Thr3468Ser)
c.3488A>T
c.7683A>T
c.4849A>T (p.Thr1617Ser)
c.7728A>T
c.10783A>T (p.Thr3595Ser)
c.937A>T (p.Thr313Ser)
c.2139A>T
c.171A>T
c.1880A>T
c.4274A>T (n.4274A>T)
c.10657A>T (p.Thr3553Ser)
n.4586A>T
c.10786A>T (p.Thr3596Ser)
 ClinVar
2g.73572661C>ACA347285468ALMS1c.10403C>A (p.Thr3468Asn)
c.3489C>A
c.7684C>A
c.4850C>A (p.Thr1617Asn)
c.7729C>A
c.10784C>A (p.Thr3595Asn)
c.938C>A (p.Thr313Asn)
c.2140C>A
c.172C>A
c.1881C>A
c.4275C>A (n.4275C>A)
c.10658C>A (p.Thr3553Asn)
n.4587C>A
c.10787C>A (p.Thr3596Asn)
2g.73572661C>GCA347285470ALMS1c.10403C>G (p.Thr3468Ser)
c.3489C>G
c.7684C>G
c.4850C>G (p.Thr1617Ser)
c.7729C>G
c.10784C>G (p.Thr3595Ser)
c.938C>G (p.Thr313Ser)
c.2140C>G
c.172C>G
c.1881C>G
c.4275C>G (n.4275C>G)
c.10658C>G (p.Thr3553Ser)
n.4587C>G
c.10787C>G (p.Thr3596Ser)
2g.73572661C>TCA347285471ALMS1c.10403C>T (p.Thr3468Ile)
c.3489C>T
c.7684C>T
c.4850C>T (p.Thr1617Ile)
c.7729C>T
c.10784C>T (p.Thr3595Ile)
c.938C>T (p.Thr313Ile)
c.2140C>T
c.172C>T
c.1881C>T
c.4275C>T (n.4275C>T)
c.10658C>T (p.Thr3553Ile)
n.4587C>T
c.10787C>T (p.Thr3596Ile)
2g.73572661_73572663delCA913090898ALMS1c.10403_10405del (p.Thr3468_Val3469delinsMet)
c.3489_3491del
c.7684_7686del
c.4850_4852del (p.Thr1617_Val1618delinsMet)
c.7729_7731del
c.10784_10786del (p.Thr3595_Val3596delinsMet)
c.938_940del (p.Thr313_Val314delinsMet)
c.2140_2142del
c.172_174del
c.1881_1883del
c.4275_4277del (n.4275_4277del)
c.10658_10660del (p.Thr3553_Val3554delinsMet)
n.4587_4589del
c.10787_10789del (p.Thr3596_Val3597delinsMet)
2g.73572661_73572663delinsCTGCA1261021517ALMS1c.10403_10405delinsCTG (p.Thr3468=)
c.3489_3491delinsCTG
c.7684_7686delinsCTG
c.4850_4852delinsCTG (p.Thr1617=)
c.7729_7731delinsCTG
c.10784_10786delinsCTG (p.Thr3595=)
c.938_940delinsCTG (p.Thr313=)
c.2140_2142delinsCTG
c.172_174delinsCTG
c.1881_1883delinsCTG
c.4275_4277delinsCTG (n.4275_4277delinsCTG)
c.10658_10660delinsCTG (p.Thr3553=)
n.4587_4589delinsCTG
c.10787_10789delinsCTG (p.Thr3596=)
2g.73572662T>ACA1715058ALMS1c.10404T>A (p.Thr3468=)
c.3490T>A
c.7685T>A
c.4851T>A (p.Thr1617=)
c.7730T>A
c.10785T>A (p.Thr3595=)
c.939T>A (p.Thr313=)
c.2141T>A
c.173T>A
c.1882T>A
c.4276T>A (n.4276T>A)
c.10659T>A (p.Thr3553=)
n.4588T>A
c.10788T>A (p.Thr3596=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572662T>CCA427024508ALMS1c.10404T>C (p.Thr3468=)
c.3490T>C
c.7685T>C
c.4851T>C (p.Thr1617=)
c.7730T>C
c.10785T>C (p.Thr3595=)
c.939T>C (p.Thr313=)
c.2141T>C
c.173T>C
c.1882T>C
c.4276T>C (n.4276T>C)
c.10659T>C (p.Thr3553=)
n.4588T>C
c.10788T>C (p.Thr3596=)
 dbSNP gnomAD v2 gnomAD v4
2g.73572662T>GCA427024504ALMS1c.10404T>G (p.Thr3468=)
c.3490T>G
c.7685T>G
c.4851T>G (p.Thr1617=)
c.7730T>G
c.10785T>G (p.Thr3595=)
c.939T>G (p.Thr313=)
c.2141T>G
c.173T>G
c.1882T>G
c.4276T>G (n.4276T>G)
c.10659T>G (p.Thr3553=)
n.4588T>G
c.10788T>G (p.Thr3596=)
2g.73572662T=CA1261021536ALMS1c.10404T= (p.Thr3468=)
c.3490T=
c.7685T=
c.4851T= (p.Thr1617=)
c.7730T=
c.10785T= (p.Thr3595=)
c.939T= (p.Thr313=)
c.2141T=
c.173T=
c.1882T=
c.4276T= (n.4276T=)
c.10659T= (p.Thr3553=)
n.4588T=
c.10788T= (p.Thr3596=)
2g.73572664_73572665delCA534123607ALMS1c.10406_10407del (p.Val3469GlufsTer4)
c.3492_3493del
c.7687_7688del
c.4853_4854del (p.Val1618GlufsTer4)
c.7732_7733del
c.10787_10788del (p.Val3596GlufsTer4)
c.941_942del (p.Val314GlufsTer4)
c.2143_2144del
c.175_176del
c.1884_1885del
c.4278_4279del (n.4278_4279del)
c.10661_10662del (p.Val3554GlufsTer4)
n.4590_4591del
c.10790_10791del (p.Val3597GlufsTer4)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572663G>ACA347285479ALMS1c.10405G>A (p.Val3469Met)
c.3491G>A
c.7686G>A
c.4852G>A (p.Val1618Met)
c.7731G>A
c.10786G>A (p.Val3596Met)
c.940G>A (p.Val314Met)
c.2142G>A
c.174G>A
c.1883G>A
c.4277G>A (n.4277G>A)
c.10660G>A (p.Val3554Met)
n.4589G>A
c.10789G>A (p.Val3597Met)
2g.73572663G>CCA347285480ALMS1c.10405G>C (p.Val3469Leu)
c.3491G>C
c.7686G>C
c.4852G>C (p.Val1618Leu)
c.7731G>C
c.10786G>C (p.Val3596Leu)
c.940G>C (p.Val314Leu)
c.2142G>C
c.174G>C
c.1883G>C
c.4277G>C (n.4277G>C)
c.10660G>C (p.Val3554Leu)
n.4589G>C
c.10789G>C (p.Val3597Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.73572663G=CA1261021541ALMS1c.10405G= (p.Val3469=)
c.3491G=
c.7686G=
c.4852G= (p.Val1618=)
c.7731G=
c.10786G= (p.Val3596=)
c.940G= (p.Val314=)
c.2142G=
c.174G=
c.1883G=
c.4277G= (n.4277G=)
c.10660G= (p.Val3554=)
n.4589G=
c.10789G= (p.Val3597=)
2g.73572663G>TCA347285483ALMS1c.10405G>T (p.Val3469Leu)
c.3491G>T
c.7686G>T
c.4852G>T (p.Val1618Leu)
c.7731G>T
c.10786G>T (p.Val3596Leu)
c.940G>T (p.Val314Leu)
c.2142G>T
c.174G>T
c.1883G>T
c.4277G>T (n.4277G>T)
c.10660G>T (p.Val3554Leu)
n.4589G>T
c.10789G>T (p.Val3597Leu)
2g.73572664T>ACA347285487ALMS1c.10406T>A (p.Val3469Glu)
c.3492T>A
c.7687T>A
c.4853T>A (p.Val1618Glu)
c.7732T>A
c.10787T>A (p.Val3596Glu)
c.941T>A (p.Val314Glu)
c.2143T>A
c.175T>A
c.1884T>A
c.4278T>A (n.4278T>A)
c.10661T>A (p.Val3554Glu)
n.4590T>A
c.10790T>A (p.Val3597Glu)
2g.73572664T>CCA347285489ALMS1c.10406T>C (p.Val3469Ala)
c.3492T>C
c.7687T>C
c.4853T>C (p.Val1618Ala)
c.7732T>C
c.10787T>C (p.Val3596Ala)
c.941T>C (p.Val314Ala)
c.2143T>C
c.175T>C
c.1884T>C
c.4278T>C (n.4278T>C)
c.10661T>C (p.Val3554Ala)
n.4590T>C
c.10790T>C (p.Val3597Ala)
2g.73572664T>GCA347285491ALMS1c.10406T>G (p.Val3469Gly)
c.3492T>G
c.7687T>G
c.4853T>G (p.Val1618Gly)
c.7732T>G
c.10787T>G (p.Val3596Gly)
c.941T>G (p.Val314Gly)
c.2143T>G
c.175T>G
c.1884T>G
c.4278T>G (n.4278T>G)
c.10661T>G (p.Val3554Gly)
n.4590T>G
c.10790T>G (p.Val3597Gly)
2g.73572665G>ACA1715060ALMS1c.10407G>A (p.Val3469=)
c.3493G>A
c.7688G>A
c.4854G>A (p.Val1618=)
c.7733G>A
c.10788G>A (p.Val3596=)
c.942G>A (p.Val314=)
c.2144G>A
c.176G>A
c.1885G>A
c.4279G>A (n.4279G>A)
c.10662G>A (p.Val3554=)
n.4591G>A
c.10791G>A (p.Val3597=)
 ClinVar dbSNP ExAC gnomAD v2
2g.73572665G>CCA1715059ALMS1c.10407G>C (p.Val3469=)
c.3493G>C
c.7688G>C
c.4854G>C (p.Val1618=)
c.7733G>C
c.10788G>C (p.Val3596=)
c.942G>C (p.Val314=)
c.2144G>C
c.176G>C
c.1885G>C
c.4279G>C (n.4279G>C)
c.10662G>C (p.Val3554=)
n.4591G>C
c.10791G>C (p.Val3597=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572665G=CA1261021546ALMS1c.10407G= (p.Val3469=)
c.3493G=
c.7688G=
c.4854G= (p.Val1618=)
c.7733G=
c.10788G= (p.Val3596=)
c.942G= (p.Val314=)
c.2144G=
c.176G=
c.1885G=
c.4279G= (n.4279G=)
c.10662G= (p.Val3554=)
n.4591G=
c.10791G= (p.Val3597=)
2g.73572665G>TCA427024512ALMS1c.10407G>T (p.Val3469=)
c.3493G>T
c.7688G>T
c.4854G>T (p.Val1618=)
c.7733G>T
c.10788G>T (p.Val3596=)
c.942G>T (p.Val314=)
c.2144G>T
c.176G>T
c.1885G>T
c.4279G>T (n.4279G>T)
c.10662G>T (p.Val3554=)
n.4591G>T
c.10791G>T (p.Val3597=)
2g.73572666A>CCA347285502ALMS1c.10408A>C (p.Ser3470Arg)
c.3494A>C
c.7689A>C
c.4855A>C (p.Ser1619Arg)
c.7734A>C
c.10789A>C (p.Ser3597Arg)
c.943A>C (p.Ser315Arg)
c.2145A>C
c.177A>C
c.1886A>C
c.4280A>C (n.4280A>C)
c.10663A>C (p.Ser3555Arg)
n.4592A>C
c.10792A>C (p.Ser3598Arg)
2g.73572666A>GCA347285504ALMS1c.10408A>G (p.Ser3470Gly)
c.3494A>G
c.7689A>G
c.4855A>G (p.Ser1619Gly)
c.7734A>G
c.10789A>G (p.Ser3597Gly)
c.943A>G (p.Ser315Gly)
c.2145A>G
c.177A>G
c.1886A>G
c.4280A>G (n.4280A>G)
c.10663A>G (p.Ser3555Gly)
n.4592A>G
c.10792A>G (p.Ser3598Gly)
 gnomAD v4
2g.73572666A>TCA347285500ALMS1c.10408A>T (p.Ser3470Cys)
c.3494A>T
c.7689A>T
c.4855A>T (p.Ser1619Cys)
c.7734A>T
c.10789A>T (p.Ser3597Cys)
c.943A>T (p.Ser315Cys)
c.2145A>T
c.177A>T
c.1886A>T
c.4280A>T (n.4280A>T)
c.10663A>T (p.Ser3555Cys)
n.4592A>T
c.10792A>T (p.Ser3598Cys)
2g.73572667G>ACA347285507ALMS1c.10409G>A (p.Ser3470Asn)
c.3495G>A
c.7690G>A
c.4856G>A (p.Ser1619Asn)
c.7735G>A
c.10790G>A (p.Ser3597Asn)
c.944G>A (p.Ser315Asn)
c.2146G>A
c.178G>A
c.1887G>A
c.4281G>A (n.4281G>A)
c.10664G>A (p.Ser3555Asn)
n.4593G>A
c.10793G>A (p.Ser3598Asn)
 dbSNP gnomAD v4
2g.73572667G>CCA347285510ALMS1c.10409G>C (p.Ser3470Thr)
c.3495G>C
c.7690G>C
c.4856G>C (p.Ser1619Thr)
c.7735G>C
c.10790G>C (p.Ser3597Thr)
c.944G>C (p.Ser315Thr)
c.2146G>C
c.178G>C
c.1887G>C
c.4281G>C (n.4281G>C)
c.10664G>C (p.Ser3555Thr)
n.4593G>C
c.10793G>C (p.Ser3598Thr)
2g.73572667G=CA1261021554ALMS1c.10409G= (p.Ser3470=)
c.3495G=
c.7690G=
c.4856G= (p.Ser1619=)
c.7735G=
c.10790G= (p.Ser3597=)
c.944G= (p.Ser315=)
c.2146G=
c.178G=
c.1887G=
c.4281G= (n.4281G=)
c.10664G= (p.Ser3555=)
n.4593G=
c.10793G= (p.Ser3598=)
2g.73572667G>TCA347285512ALMS1c.10409G>T (p.Ser3470Ile)
c.3495G>T
c.7690G>T
c.4856G>T (p.Ser1619Ile)
c.7735G>T
c.10790G>T (p.Ser3597Ile)
c.944G>T (p.Ser315Ile)
c.2146G>T
c.178G>T
c.1887G>T
c.4281G>T (n.4281G>T)
c.10664G>T (p.Ser3555Ile)
n.4593G>T
c.10793G>T (p.Ser3598Ile)
2g.73572668T>ACA347285514ALMS1c.10410T>A (p.Ser3470Arg)
c.3496T>A
c.7691T>A
c.4857T>A (p.Ser1619Arg)
c.7736T>A
c.10791T>A (p.Ser3597Arg)
c.945T>A (p.Ser315Arg)
c.2147T>A
c.179T>A
c.1888T>A
c.4282T>A (n.4282T>A)
c.10665T>A (p.Ser3555Arg)
n.4594T>A
c.10794T>A (p.Ser3598Arg)
 gnomAD v4
2g.73572668T>CCA427024518ALMS1c.10410T>C (p.Ser3470=)
c.3496T>C
c.7691T>C
c.4857T>C (p.Ser1619=)
c.7736T>C
c.10791T>C (p.Ser3597=)
c.945T>C (p.Ser315=)
c.2147T>C
c.179T>C
c.1888T>C
c.4282T>C (n.4282T>C)
c.10665T>C (p.Ser3555=)
n.4594T>C
c.10794T>C (p.Ser3598=)
2g.73572668T>GCA347285516ALMS1c.10410T>G (p.Ser3470Arg)
c.3496T>G
c.7691T>G
c.4857T>G (p.Ser1619Arg)
c.7736T>G
c.10791T>G (p.Ser3597Arg)
c.945T>G (p.Ser315Arg)
c.2147T>G
c.179T>G
c.1888T>G
c.4282T>G (n.4282T>G)
c.10665T>G (p.Ser3555Arg)
n.4594T>G
c.10794T>G (p.Ser3598Arg)
2g.73572669T>ACA347285519ALMS1c.10411T>A (p.Leu3471Met)
c.3497T>A
c.7692T>A
c.4858T>A (p.Leu1620Met)
c.7737T>A
c.10792T>A (p.Leu3598Met)
c.946T>A (p.Leu316Met)
c.2148T>A
c.180T>A
c.1889T>A
c.4283T>A (n.4283T>A)
c.10666T>A (p.Leu3556Met)
n.4595T>A
c.10795T>A (p.Leu3599Met)
2g.73572669T>CCA427024520ALMS1c.10411T>C (p.Leu3471=)
c.3497T>C
c.7692T>C
c.4858T>C (p.Leu1620=)
c.7737T>C
c.10792T>C (p.Leu3598=)
c.946T>C (p.Leu316=)
c.2148T>C
c.180T>C
c.1889T>C
c.4283T>C (n.4283T>C)
c.10666T>C (p.Leu3556=)
n.4595T>C
c.10795T>C (p.Leu3599=)
 ClinVar dbSNP
2g.73572669T>GCA347285522ALMS1c.10411T>G (p.Leu3471Val)
c.3497T>G
c.7692T>G
c.4858T>G (p.Leu1620Val)
c.7737T>G
c.10792T>G (p.Leu3598Val)
c.946T>G (p.Leu316Val)
c.2148T>G
c.180T>G
c.1889T>G
c.4283T>G (n.4283T>G)
c.10666T>G (p.Leu3556Val)
n.4595T>G
c.10795T>G (p.Leu3599Val)
 ClinVar
2g.73572669_73572673delinsTTGAACA1261021559ALMS1c.10411_10415delinsTTGAA (p.Leu3471=)
c.3497_3501delinsTTGAA
c.7692_7696delinsTTGAA
c.4858_4862delinsTTGAA (p.Leu1620=)
c.7737_7741delinsTTGAA
c.10792_10796delinsTTGAA (p.Leu3598=)
c.946_950delinsTTGAA (p.Leu316=)
c.2148_2152delinsTTGAA
c.180_184delinsTTGAA
c.1889_1893delinsTTGAA
c.4283_4287delinsTTGAA (n.4283_4287delinsTTGAA)
c.10666_10670delinsTTGAA (p.Leu3556=)
n.4595_4599delinsTTGAA
c.10795_10799delinsTTGAA (p.Leu3599=)
2g.73572670_73572674delCA913090899ALMS1c.10412_10416del (p.Leu3471Ter)
c.3498_3502del
c.7693_7697del
c.4859_4863del (p.Leu1620Ter)
c.7738_7742del
c.10793_10797del (p.Leu3598Ter)
c.947_951del (p.Leu316Ter)
c.2149_2153del
c.181_185del
c.1890_1894del
c.4284_4288del (n.4284_4288del)
c.10667_10671del (p.Leu3556Ter)
n.4596_4600del
c.10796_10800del (p.Leu3599Ter)
2g.73572670T>ACA347285525ALMS1c.10412T>A (p.Leu3471Ter)
c.3498T>A
c.7693T>A
c.4859T>A (p.Leu1620Ter)
c.7738T>A
c.10793T>A (p.Leu3598Ter)
c.947T>A (p.Leu316Ter)
c.2149T>A
c.181T>A
c.1890T>A
c.4284T>A (n.4284T>A)
c.10667T>A (p.Leu3556Ter)
n.4596T>A
c.10796T>A (p.Leu3599Ter)
2g.73572670T>CCA347285530ALMS1c.10412T>C (p.Leu3471Ser)
c.3498T>C
c.7693T>C
c.4859T>C (p.Leu1620Ser)
c.7738T>C
c.10793T>C (p.Leu3598Ser)
c.947T>C (p.Leu316Ser)
c.2149T>C
c.181T>C
c.1890T>C
c.4284T>C (n.4284T>C)
c.10667T>C (p.Leu3556Ser)
n.4596T>C
c.10796T>C (p.Leu3599Ser)
2g.73572670T>GCA347285527ALMS1c.10412T>G (p.Leu3471Trp)
c.3498T>G
c.7693T>G
c.4859T>G (p.Leu1620Trp)
c.7738T>G
c.10793T>G (p.Leu3598Trp)
c.947T>G (p.Leu316Trp)
c.2149T>G
c.181T>G
c.1890T>G
c.4284T>G (n.4284T>G)
c.10667T>G (p.Leu3556Trp)
n.4596T>G
c.10796T>G (p.Leu3599Trp)
2g.73572674_73572677delCA658822831ALMS1c.10416_10419del (p.Glu3473CysfsTer?)
c.3502_3505del
c.7697_7700del
c.4863_4866del (p.Glu1622CysfsTer?)
c.7742_7745del
c.10797_10800del (p.Glu3600CysfsTer?)
c.951_954del (p.Glu318CysfsTer?)
c.2153_2156del
c.185_188del
c.1894_1897del
c.4288_4291del (n.4288_4291del)
c.10671_10674del (p.Glu3558CysfsTer?)
n.4600_4603del
c.10800_10803del (p.Glu3601CysfsTer?)
 ClinVar dbSNP
2g.73572671G>ACA427024522ALMS1c.10413G>A (p.Leu3471=)
c.3499G>A
c.7694G>A
c.4860G>A (p.Leu1620=)
c.7739G>A
c.10794G>A (p.Leu3598=)
c.948G>A (p.Leu316=)
c.2150G>A
c.182G>A
c.1891G>A
c.4285G>A (n.4285G>A)
c.10668G>A (p.Leu3556=)
n.4597G>A
c.10797G>A (p.Leu3599=)
2g.73572671G>CCA347285533ALMS1c.10413G>C (p.Leu3471Phe)
c.3499G>C
c.7694G>C
c.4860G>C (p.Leu1620Phe)
c.7739G>C
c.10794G>C (p.Leu3598Phe)
c.948G>C (p.Leu316Phe)
c.2150G>C
c.182G>C
c.1891G>C
c.4285G>C (n.4285G>C)
c.10668G>C (p.Leu3556Phe)
n.4597G>C
c.10797G>C (p.Leu3599Phe)
2g.73572671G>TCA347285536ALMS1c.10413G>T (p.Leu3471Phe)
c.3499G>T
c.7694G>T
c.4860G>T (p.Leu1620Phe)
c.7739G>T
c.10794G>T (p.Leu3598Phe)
c.948G>T (p.Leu316Phe)
c.2150G>T
c.182G>T
c.1891G>T
c.4285G>T (n.4285G>T)
c.10668G>T (p.Leu3556Phe)
n.4597G>T
c.10797G>T (p.Leu3599Phe)
2g.73572672A>CCA347285539ALMS1c.10414A>C (p.Asn3472His)
c.3500A>C
c.7695A>C
c.4861A>C (p.Asn1621His)
c.7740A>C
c.10795A>C (p.Asn3599His)
c.949A>C (p.Asn317His)
c.2151A>C
c.183A>C
c.1892A>C
c.4286A>C (n.4286A>C)
c.10669A>C (p.Asn3557His)
n.4598A>C
c.10798A>C (p.Asn3600His)
2g.73572672A>GCA347285541ALMS1c.10414A>G (p.Asn3472Asp)
c.3500A>G
c.7695A>G
c.4861A>G (p.Asn1621Asp)
c.7740A>G
c.10795A>G (p.Asn3599Asp)
c.949A>G (p.Asn317Asp)
c.2151A>G
c.183A>G
c.1892A>G
c.4286A>G (n.4286A>G)
c.10669A>G (p.Asn3557Asp)
n.4598A>G
c.10798A>G (p.Asn3600Asp)
2g.73572672A>TCA347285544ALMS1c.10414A>T (p.Asn3472Tyr)
c.3500A>T
c.7695A>T
c.4861A>T (p.Asn1621Tyr)
c.7740A>T
c.10795A>T (p.Asn3599Tyr)
c.949A>T (p.Asn317Tyr)
c.2151A>T
c.183A>T
c.1892A>T
c.4286A>T (n.4286A>T)
c.10669A>T (p.Asn3557Tyr)
n.4598A>T
c.10798A>T (p.Asn3600Tyr)
2g.73572673A>CCA347285547ALMS1c.10415A>C (p.Asn3472Thr)
c.3501A>C
c.7696A>C
c.4862A>C (p.Asn1621Thr)
c.7741A>C
c.10796A>C (p.Asn3599Thr)
c.950A>C (p.Asn317Thr)
c.2152A>C
c.184A>C
c.1893A>C
c.4287A>C (n.4287A>C)
c.10670A>C (p.Asn3557Thr)
n.4599A>C
c.10799A>C (p.Asn3600Thr)
2g.73572673A>GCA347285552ALMS1c.10415A>G (p.Asn3472Ser)
c.3501A>G
c.7696A>G
c.4862A>G (p.Asn1621Ser)
c.7741A>G
c.10796A>G (p.Asn3599Ser)
c.950A>G (p.Asn317Ser)
c.2152A>G
c.184A>G
c.1893A>G
c.4287A>G (n.4287A>G)
c.10670A>G (p.Asn3557Ser)
n.4599A>G
c.10799A>G (p.Asn3600Ser)
2g.73572673A>TCA347285550ALMS1c.10415A>T (p.Asn3472Ile)
c.3501A>T
c.7696A>T
c.4862A>T (p.Asn1621Ile)
c.7741A>T
c.10796A>T (p.Asn3599Ile)
c.950A>T (p.Asn317Ile)
c.2152A>T
c.184A>T
c.1893A>T
c.4287A>T (n.4287A>T)
c.10670A>T (p.Asn3557Ile)
n.4599A>T
c.10799A>T (p.Asn3600Ile)
2g.73572674T>ACA347285555ALMS1c.10416T>A (p.Asn3472Lys)
c.3502T>A
c.7697T>A
c.4863T>A (p.Asn1621Lys)
c.7742T>A
c.10797T>A (p.Asn3599Lys)
c.951T>A (p.Asn317Lys)
c.2153T>A
c.185T>A
c.1894T>A
c.4288T>A (n.4288T>A)
c.10671T>A (p.Asn3557Lys)
n.4600T>A
c.10800T>A (p.Asn3600Lys)
2g.73572674T>CCA427024532ALMS1c.10416T>C (p.Asn3472=)
c.3502T>C
c.7697T>C
c.4863T>C (p.Asn1621=)
c.7742T>C
c.10797T>C (p.Asn3599=)
c.951T>C (p.Asn317=)
c.2153T>C
c.185T>C
c.1894T>C
c.4288T>C (n.4288T>C)
c.10671T>C (p.Asn3557=)
n.4600T>C
c.10800T>C (p.Asn3600=)
 ClinVar dbSNP
2g.73572674T>GCA347285557ALMS1c.10416T>G (p.Asn3472Lys)
c.3502T>G
c.7697T>G
c.4863T>G (p.Asn1621Lys)
c.7742T>G
c.10797T>G (p.Asn3599Lys)
c.951T>G (p.Asn317Lys)
c.2153T>G
c.185T>G
c.1894T>G
c.4288T>G (n.4288T>G)
c.10671T>G (p.Asn3557Lys)
n.4600T>G
c.10800T>G (p.Asn3600Lys)
2g.73572675G>ACA347285560ALMS1c.10417G>A (p.Glu3473Lys)
c.3503G>A
c.7698G>A
c.4864G>A (p.Glu1622Lys)
c.7743G>A
c.10798G>A (p.Glu3600Lys)
c.952G>A (p.Glu318Lys)
c.2154G>A
c.186G>A
c.1895G>A
c.4289G>A (n.4289G>A)
c.10672G>A (p.Glu3558Lys)
n.4601G>A
c.10801G>A (p.Glu3601Lys)
 gnomAD v4
2g.73572675G>CCA347285562ALMS1c.10417G>C (p.Glu3473Gln)
c.3503G>C
c.7698G>C
c.4864G>C (p.Glu1622Gln)
c.7743G>C
c.10798G>C (p.Glu3600Gln)
c.952G>C (p.Glu318Gln)
c.2154G>C
c.186G>C
c.1895G>C
c.4289G>C (n.4289G>C)
c.10672G>C (p.Glu3558Gln)
n.4601G>C
c.10801G>C (p.Glu3601Gln)
2g.73572675G>TCA347285564ALMS1c.10417G>T (p.Glu3473Ter)
c.3503G>T
c.7698G>T
c.4864G>T (p.Glu1622Ter)
c.7743G>T
c.10798G>T (p.Glu3600Ter)
c.952G>T (p.Glu318Ter)
c.2154G>T
c.186G>T
c.1895G>T
c.4289G>T (n.4289G>T)
c.10672G>T (p.Glu3558Ter)
n.4601G>T
c.10801G>T (p.Glu3601Ter)
 ClinVar
2g.73572676A>CCA347285567ALMS1c.10418A>C (p.Glu3473Ala)
c.3504A>C
c.7699A>C
c.4865A>C (p.Glu1622Ala)
c.7744A>C
c.10799A>C (p.Glu3600Ala)
c.953A>C (p.Glu318Ala)
c.2155A>C
c.187A>C
c.1896A>C
c.4290A>C (n.4290A>C)
c.10673A>C (p.Glu3558Ala)
n.4602A>C
c.10802A>C (p.Glu3601Ala)
2g.73572676A>GCA347285570ALMS1c.10418A>G (p.Glu3473Gly)
c.3504A>G
c.7699A>G
c.4865A>G (p.Glu1622Gly)
c.7744A>G
c.10799A>G (p.Glu3600Gly)
c.953A>G (p.Glu318Gly)
c.2155A>G
c.187A>G
c.1896A>G
c.4290A>G (n.4290A>G)
c.10673A>G (p.Glu3558Gly)
n.4602A>G
c.10802A>G (p.Glu3601Gly)
2g.73572676A>TCA347285572ALMS1c.10418A>T (p.Glu3473Val)
c.3504A>T
c.7699A>T
c.4865A>T (p.Glu1622Val)
c.7744A>T
c.10799A>T (p.Glu3600Val)
c.953A>T (p.Glu318Val)
c.2155A>T
c.187A>T
c.1896A>T
c.4290A>T (n.4290A>T)
c.10673A>T (p.Glu3558Val)
n.4602A>T
c.10802A>T (p.Glu3601Val)
 gnomAD v4
2g.73572677A>CCA347285575ALMS1c.10419A>C (p.Glu3473Asp)
c.3505A>C
c.7700A>C
c.4866A>C (p.Glu1622Asp)
c.7745A>C
c.10800A>C (p.Glu3600Asp)
c.954A>C (p.Glu318Asp)
c.2156A>C
c.188A>C
c.1897A>C
c.4291A>C (n.4291A>C)
c.10674A>C (p.Glu3558Asp)
n.4603A>C
c.10803A>C (p.Glu3601Asp)
2g.73572677A>GCA427024538ALMS1c.10419A>G (p.Glu3473=)
c.3505A>G
c.7700A>G
c.4866A>G (p.Glu1622=)
c.7745A>G
c.10800A>G (p.Glu3600=)
c.954A>G (p.Glu318=)
c.2156A>G
c.188A>G
c.1897A>G
c.4291A>G (n.4291A>G)
c.10674A>G (p.Glu3558=)
n.4603A>G
c.10803A>G (p.Glu3601=)
 gnomAD v4
2g.73572677A>TCA347285577ALMS1c.10419A>T (p.Glu3473Asp)
c.3505A>T
c.7700A>T
c.4866A>T (p.Glu1622Asp)
c.7745A>T
c.10800A>T (p.Glu3600Asp)
c.954A>T (p.Glu318Asp)
c.2156A>T
c.188A>T
c.1897A>T
c.4291A>T (n.4291A>T)
c.10674A>T (p.Glu3558Asp)
n.4603A>T
c.10803A>T (p.Glu3601Asp)
2g.73572678C>ACA347285580ALMS1c.10420C>A (p.Leu3474Met)
c.3506C>A
c.7701C>A
c.4867C>A (p.Leu1623Met)
c.7746C>A
c.10801C>A (p.Leu3601Met)
c.955C>A (p.Leu319Met)
c.2157C>A
c.189C>A
c.1898C>A
c.4292C>A (n.4292C>A)
c.10675C>A (p.Leu3559Met)
n.4604C>A
c.10804C>A (p.Leu3602Met)
2g.73572678C=CA1261021571ALMS1c.10420C= (p.Leu3474=)
c.3506C=
c.7701C=
c.4867C= (p.Leu1623=)
c.7746C=
c.10801C= (p.Leu3601=)
c.955C= (p.Leu319=)
c.2157C=
c.189C=
c.1898C=
c.4292C= (n.4292C=)
c.10675C= (p.Leu3559=)
n.4604C=
c.10804C= (p.Leu3602=)
2g.73572678C>GCA1715061ALMS1c.10420C>G (p.Leu3474Val)
c.3506C>G
c.7701C>G
c.4867C>G (p.Leu1623Val)
c.7746C>G
c.10801C>G (p.Leu3601Val)
c.955C>G (p.Leu319Val)
c.2157C>G
c.189C>G
c.1898C>G
c.4292C>G (n.4292C>G)
c.10675C>G (p.Leu3559Val)
n.4604C>G
c.10804C>G (p.Leu3602Val)
 dbSNP ExAC gnomAD v2
2g.73572678C>TCA427024543ALMS1c.10420C>T (p.Leu3474=)
c.3506C>T
c.7701C>T
c.4867C>T (p.Leu1623=)
c.7746C>T
c.10801C>T (p.Leu3601=)
c.955C>T (p.Leu319=)
c.2157C>T
c.189C>T
c.1898C>T
c.4292C>T (n.4292C>T)
c.10675C>T (p.Leu3559=)
n.4604C>T
c.10804C>T (p.Leu3602=)
2g.73572679delCA2659617194ALMS1c.10421del (p.Leu3474ArgfsTer?)
c.3507del
c.7702del
c.4868del (p.Leu1623ArgfsTer?)
c.7747del
c.10802del (p.Leu3601ArgfsTer?)
c.956del (p.Leu319ArgfsTer?)
c.2158del
c.190del
c.1899del
c.4293del (n.4293del)
c.10676del (p.Leu3559ArgfsTer?)
n.4605del
c.10805del (p.Leu3602ArgfsTer?)
 gnomAD v4
2g.73572679T>ACA347285590ALMS1c.10421T>A (p.Leu3474Gln)
c.3507T>A
c.7702T>A
c.4868T>A (p.Leu1623Gln)
c.7747T>A
c.10802T>A (p.Leu3601Gln)
c.956T>A (p.Leu319Gln)
c.2158T>A
c.190T>A
c.1899T>A
c.4293T>A (n.4293T>A)
c.10676T>A (p.Leu3559Gln)
n.4605T>A
c.10805T>A (p.Leu3602Gln)
2g.73572679T>CCA347285587ALMS1c.10421T>C (p.Leu3474Pro)
c.3507T>C
c.7702T>C
c.4868T>C (p.Leu1623Pro)
c.7747T>C
c.10802T>C (p.Leu3601Pro)
c.956T>C (p.Leu319Pro)
c.2158T>C
c.190T>C
c.1899T>C
c.4293T>C (n.4293T>C)
c.10676T>C (p.Leu3559Pro)
n.4605T>C
c.10805T>C (p.Leu3602Pro)
2g.73572679T>GCA347285585ALMS1c.10421T>G (p.Leu3474Arg)
c.3507T>G
c.7702T>G
c.4868T>G (p.Leu1623Arg)
c.7747T>G
c.10802T>G (p.Leu3601Arg)
c.956T>G (p.Leu319Arg)
c.2158T>G
c.190T>G
c.1899T>G
c.4293T>G (n.4293T>G)
c.10676T>G (p.Leu3559Arg)
n.4605T>G
c.10805T>G (p.Leu3602Arg)
2g.73572680G>ACA427024546ALMS1c.10422G>A (p.Leu3474=)
c.3508G>A
c.7703G>A
c.4869G>A (p.Leu1623=)
c.7748G>A
c.10803G>A (p.Leu3601=)
c.957G>A (p.Leu319=)
c.2159G>A
c.191G>A
c.1900G>A
c.4294G>A (n.4294G>A)
c.10677G>A (p.Leu3559=)
n.4606G>A
c.10806G>A (p.Leu3602=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572680G>CCA427024547ALMS1c.10422G>C (p.Leu3474=)
c.3508G>C
c.7703G>C
c.4869G>C (p.Leu1623=)
c.7748G>C
c.10803G>C (p.Leu3601=)
c.957G>C (p.Leu319=)
c.2159G>C
c.191G>C
c.1900G>C
c.4294G>C (n.4294G>C)
c.10677G>C (p.Leu3559=)
n.4606G>C
c.10806G>C (p.Leu3602=)
2g.73572680G=CA1261021573ALMS1c.10422G= (p.Leu3474=)
c.3508G=
c.7703G=
c.4869G= (p.Leu1623=)
c.7748G=
c.10803G= (p.Leu3601=)
c.957G= (p.Leu319=)
c.2159G=
c.191G=
c.1900G=
c.4294G= (n.4294G=)
c.10677G= (p.Leu3559=)
n.4606G=
c.10806G= (p.Leu3602=)
2g.73572680G>TCA427024548ALMS1c.10422G>T (p.Leu3474=)
c.3508G>T
c.7703G>T
c.4869G>T (p.Leu1623=)
c.7748G>T
c.10803G>T (p.Leu3601=)
c.957G>T (p.Leu319=)
c.2159G>T
c.191G>T
c.1900G>T
c.4294G>T (n.4294G>T)
c.10677G>T (p.Leu3559=)
n.4606G>T
c.10806G>T (p.Leu3602=)
2g.73572681delCA2659617195ALMS1c.10423del (p.Trp3475GlyfsTer?)
c.3509del
c.7704del
c.4870del (p.Trp1624GlyfsTer?)
c.7749del
c.10804del (p.Trp3602GlyfsTer?)
c.958del (p.Trp320GlyfsTer?)
c.2160del
c.192del
c.1901del
c.4295del (n.4295del)
c.10678del (p.Trp3560GlyfsTer?)
n.4607del
c.10807del (p.Trp3603GlyfsTer?)
 gnomAD v4
2g.73572681T>ACA347285593ALMS1c.10423T>A (p.Trp3475Arg)
c.3509T>A
c.7704T>A
c.4870T>A (p.Trp1624Arg)
c.7749T>A
c.10804T>A (p.Trp3602Arg)
c.958T>A (p.Trp320Arg)
c.2160T>A
c.192T>A
c.1901T>A
c.4295T>A (n.4295T>A)
c.10678T>A (p.Trp3560Arg)
n.4607T>A
c.10807T>A (p.Trp3603Arg)
2g.73572681T>CCA347285597ALMS1c.10423T>C (p.Trp3475Arg)
c.3509T>C
c.7704T>C
c.4870T>C (p.Trp1624Arg)
c.7749T>C
c.10804T>C (p.Trp3602Arg)
c.958T>C (p.Trp320Arg)
c.2160T>C
c.192T>C
c.1901T>C
c.4295T>C (n.4295T>C)
c.10678T>C (p.Trp3560Arg)
n.4607T>C
c.10807T>C (p.Trp3603Arg)
2g.73572681T>GCA347285595ALMS1c.10423T>G (p.Trp3475Gly)
c.3509T>G
c.7704T>G
c.4870T>G (p.Trp1624Gly)
c.7749T>G
c.10804T>G (p.Trp3602Gly)
c.958T>G (p.Trp320Gly)
c.2160T>G
c.192T>G
c.1901T>G
c.4295T>G (n.4295T>G)
c.10678T>G (p.Trp3560Gly)
n.4607T>G
c.10807T>G (p.Trp3603Gly)
2g.73572682G>ACA347285601ALMS1c.10424G>A (p.Trp3475Ter)
c.3510G>A
c.7705G>A
c.4871G>A (p.Trp1624Ter)
c.7750G>A
c.10805G>A (p.Trp3602Ter)
c.959G>A (p.Trp320Ter)
c.2161G>A
c.193G>A
c.1902G>A
c.4296G>A (n.4296G>A)
c.10679G>A (p.Trp3560Ter)
n.4608G>A
c.10808G>A (p.Trp3603Ter)
 gnomAD v4
2g.73572682G>CCA347285603ALMS1c.10424G>C (p.Trp3475Ser)
c.3510G>C
c.7705G>C
c.4871G>C (p.Trp1624Ser)
c.7750G>C
c.10805G>C (p.Trp3602Ser)
c.959G>C (p.Trp320Ser)
c.2161G>C
c.193G>C
c.1902G>C
c.4296G>C (n.4296G>C)
c.10679G>C (p.Trp3560Ser)
n.4608G>C
c.10808G>C (p.Trp3603Ser)
2g.73572682G>TCA347285602ALMS1c.10424G>T (p.Trp3475Leu)
c.3510G>T
c.7705G>T
c.4871G>T (p.Trp1624Leu)
c.7750G>T
c.10805G>T (p.Trp3602Leu)
c.959G>T (p.Trp320Leu)
c.2161G>T
c.193G>T
c.1902G>T
c.4296G>T (n.4296G>T)
c.10679G>T (p.Trp3560Leu)
n.4608G>T
c.10808G>T (p.Trp3603Leu)
2g.73572683G>ACA347285604ALMS1c.10425G>A (p.Trp3475Ter)
c.3511G>A
c.7706G>A
c.4872G>A (p.Trp1624Ter)
c.7751G>A
c.10806G>A (p.Trp3602Ter)
c.960G>A (p.Trp320Ter)
c.2162G>A
c.194G>A
c.1903G>A
c.4297G>A (n.4297G>A)
c.10680G>A (p.Trp3560Ter)
n.4609G>A
c.10809G>A (p.Trp3603Ter)
2g.73572683G>CCA347285605ALMS1c.10425G>C (p.Trp3475Cys)
c.3511G>C
c.7706G>C
c.4872G>C (p.Trp1624Cys)
c.7751G>C
c.10806G>C (p.Trp3602Cys)
c.960G>C (p.Trp320Cys)
c.2162G>C
c.194G>C
c.1903G>C
c.4297G>C (n.4297G>C)
c.10680G>C (p.Trp3560Cys)
n.4609G>C
c.10809G>C (p.Trp3603Cys)
 dbSNP
2g.73572683G=CA1261021583ALMS1c.10425G= (p.Trp3475=)
c.3511G=
c.7706G=
c.4872G= (p.Trp1624=)
c.7751G=
c.10806G= (p.Trp3602=)
c.960G= (p.Trp320=)
c.2162G=
c.194G=
c.1903G=
c.4297G= (n.4297G=)
c.10680G= (p.Trp3560=)
n.4609G=
c.10809G= (p.Trp3603=)
2g.73572683G>TCA347285606ALMS1c.10425G>T (p.Trp3475Cys)
c.3511G>T
c.7706G>T
c.4872G>T (p.Trp1624Cys)
c.7751G>T
c.10806G>T (p.Trp3602Cys)
c.960G>T (p.Trp320Cys)
c.2162G>T
c.194G>T
c.1903G>T
c.4297G>T (n.4297G>T)
c.10680G>T (p.Trp3560Cys)
n.4609G>T
c.10809G>T (p.Trp3603Cys)
2g.73572684A>CCA347285610ALMS1c.10426A>C (p.Asn3476His)
c.3512A>C
c.7707A>C
c.4873A>C (p.Asn1625His)
c.7752A>C
c.10807A>C (p.Asn3603His)
c.961A>C (p.Asn321His)
c.2163A>C
c.195A>C
c.1904A>C
c.4298A>C (n.4298A>C)
c.10681A>C (p.Asn3561His)
n.4610A>C
c.10810A>C (p.Asn3604His)
2g.73572684A>GCA347285611ALMS1c.10426A>G (p.Asn3476Asp)
c.3512A>G
c.7707A>G
c.4873A>G (p.Asn1625Asp)
c.7752A>G
c.10807A>G (p.Asn3603Asp)
c.961A>G (p.Asn321Asp)
c.2163A>G
c.195A>G
c.1904A>G
c.4298A>G (n.4298A>G)
c.10681A>G (p.Asn3561Asp)
n.4610A>G
c.10810A>G (p.Asn3604Asp)
2g.73572684A>TCA347285613ALMS1c.10426A>T (p.Asn3476Tyr)
c.3512A>T
c.7707A>T
c.4873A>T (p.Asn1625Tyr)
c.7752A>T
c.10807A>T (p.Asn3603Tyr)
c.961A>T (p.Asn321Tyr)
c.2163A>T
c.195A>T
c.1904A>T
c.4298A>T (n.4298A>T)
c.10681A>T (p.Asn3561Tyr)
n.4610A>T
c.10810A>T (p.Asn3604Tyr)
2g.73572685A=CA1261021588ALMS1c.10427A= (p.Asn3476=)
c.3513A=
c.7708A=
c.4874A= (p.Asn1625=)
c.7753A=
c.10808A= (p.Asn3603=)
c.962A= (p.Asn321=)
c.2164A=
c.196A=
c.1905A=
c.4299A= (n.4299A=)
c.10682A= (p.Asn3561=)
n.4611A=
c.10811A= (p.Asn3604=)
2g.73572685A>CCA347285615ALMS1c.10427A>C (p.Asn3476Thr)
c.3513A>C
c.7708A>C
c.4874A>C (p.Asn1625Thr)
c.7753A>C
c.10808A>C (p.Asn3603Thr)
c.962A>C (p.Asn321Thr)
c.2164A>C
c.196A>C
c.1905A>C
c.4299A>C (n.4299A>C)
c.10682A>C (p.Asn3561Thr)
n.4611A>C
c.10811A>C (p.Asn3604Thr)
2g.73572685A>GCA1715062ALMS1c.10427A>G (p.Asn3476Ser)
c.3513A>G
c.7708A>G
c.4874A>G (p.Asn1625Ser)
c.7753A>G
c.10808A>G (p.Asn3603Ser)
c.962A>G (p.Asn321Ser)
c.2164A>G
c.196A>G
c.1905A>G
c.4299A>G (n.4299A>G)
c.10682A>G (p.Asn3561Ser)
n.4611A>G
c.10811A>G (p.Asn3604Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572685A>TCA347285618ALMS1c.10427A>T (p.Asn3476Ile)
c.3513A>T
c.7708A>T
c.4874A>T (p.Asn1625Ile)
c.7753A>T
c.10808A>T (p.Asn3603Ile)
c.962A>T (p.Asn321Ile)
c.2164A>T
c.196A>T
c.1905A>T
c.4299A>T (n.4299A>T)
c.10682A>T (p.Asn3561Ile)
n.4611A>T
c.10811A>T (p.Asn3604Ile)
2g.73572686C>ACA347285621ALMS1c.10428C>A (p.Asn3476Lys)
c.3514C>A
c.7709C>A
c.4875C>A (p.Asn1625Lys)
c.7754C>A
c.10809C>A (p.Asn3603Lys)
c.963C>A (p.Asn321Lys)
c.2165C>A
c.197C>A
c.1906C>A
c.4300C>A (n.4300C>A)
c.10683C>A (p.Asn3561Lys)
n.4612C>A
c.10812C>A (p.Asn3604Lys)
2g.73572686C>GCA347285623ALMS1c.10428C>G (p.Asn3476Lys)
c.3514C>G
c.7709C>G
c.4875C>G (p.Asn1625Lys)
c.7754C>G
c.10809C>G (p.Asn3603Lys)
c.963C>G (p.Asn321Lys)
c.2165C>G
c.197C>G
c.1906C>G
c.4300C>G (n.4300C>G)
c.10683C>G (p.Asn3561Lys)
n.4612C>G
c.10812C>G (p.Asn3604Lys)
2g.73572686C>TCA427024565ALMS1c.10428C>T (p.Asn3476=)
c.3514C>T
c.7709C>T
c.4875C>T (p.Asn1625=)
c.7754C>T
c.10809C>T (p.Asn3603=)
c.963C>T (p.Asn321=)
c.2165C>T
c.197C>T
c.1906C>T
c.4300C>T (n.4300C>T)
c.10683C>T (p.Asn3561=)
n.4612C>T
c.10812C>T (p.Asn3604=)
 gnomAD v4
2g.73572687A>CCA347285631ALMS1c.10429A>C (p.Lys3477Gln)
c.3515A>C
c.7710A>C
c.4876A>C (p.Lys1626Gln)
c.7755A>C
c.10810A>C (p.Lys3604Gln)
c.964A>C (p.Lys322Gln)
c.2166A>C
c.198A>C
c.1907A>C
c.4301A>C (n.4301A>C)
c.10684A>C (p.Lys3562Gln)
n.4613A>C
c.10813A>C (p.Lys3605Gln)
2g.73572687A>GCA347285629ALMS1c.10429A>G (p.Lys3477Glu)
c.3515A>G
c.7710A>G
c.4876A>G (p.Lys1626Glu)
c.7755A>G
c.10810A>G (p.Lys3604Glu)
c.964A>G (p.Lys322Glu)
c.2166A>G
c.198A>G
c.1907A>G
c.4301A>G (n.4301A>G)
c.10684A>G (p.Lys3562Glu)
n.4613A>G
c.10813A>G (p.Lys3605Glu)
 gnomAD v4
2g.73572687A>TCA347285627ALMS1c.10429A>T (p.Lys3477Ter)
c.3515A>T
c.7710A>T
c.4876A>T (p.Lys1626Ter)
c.7755A>T
c.10810A>T (p.Lys3604Ter)
c.964A>T (p.Lys322Ter)
c.2166A>T
c.198A>T
c.1907A>T
c.4301A>T (n.4301A>T)
c.10684A>T (p.Lys3562Ter)
n.4613A>T
c.10813A>T (p.Lys3605Ter)

Number of alleles fetched