Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73572733A=CA1261021765ALMS1c.10475A= (p.Asp3492=)
c.3561A=
c.7756A=
c.4922A= (p.Asp1641=)
c.7801A=
c.10856A= (p.Asp3619=)
c.1010A= (p.Asp337=)
c.2212A=
c.244A=
c.1953A=
c.4347A= (n.4347A=)
c.10730A= (p.Asp3577=)
n.4659A=
c.10859A= (p.Asp3620=)
2g.73572733A>CCA347285891ALMS1c.10475A>C (p.Asp3492Ala)
c.3561A>C
c.7756A>C
c.4922A>C (p.Asp1641Ala)
c.7801A>C
c.10856A>C (p.Asp3619Ala)
c.1010A>C (p.Asp337Ala)
c.2212A>C
c.244A>C
c.1953A>C
c.4347A>C (n.4347A>C)
c.10730A>C (p.Asp3577Ala)
n.4659A>C
c.10859A>C (p.Asp3620Ala)
2g.73572733A>GCA1715074ALMS1c.10475A>G (p.Asp3492Gly)
c.3561A>G
c.7756A>G
c.4922A>G (p.Asp1641Gly)
c.7801A>G
c.10856A>G (p.Asp3619Gly)
c.1010A>G (p.Asp337Gly)
c.2212A>G
c.244A>G
c.1953A>G
c.4347A>G (n.4347A>G)
c.10730A>G (p.Asp3577Gly)
n.4659A>G
c.10859A>G (p.Asp3620Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572733A>TCA347285893ALMS1c.10475A>T (p.Asp3492Val)
c.3561A>T
c.7756A>T
c.4922A>T (p.Asp1641Val)
c.7801A>T
c.10856A>T (p.Asp3619Val)
c.1010A>T (p.Asp337Val)
c.2212A>T
c.244A>T
c.1953A>T
c.4347A>T (n.4347A>T)
c.10730A>T (p.Asp3577Val)
n.4659A>T
c.10859A>T (p.Asp3620Val)
2g.73572734C>ACA347285898ALMS1c.10476C>A (p.Asp3492Glu)
c.3562C>A
c.7757C>A
c.4923C>A (p.Asp1641Glu)
c.7802C>A
c.10857C>A (p.Asp3619Glu)
c.1011C>A (p.Asp337Glu)
c.2213C>A
c.245C>A
c.1954C>A
c.4348C>A (n.4348C>A)
c.10731C>A (p.Asp3577Glu)
n.4660C>A
c.10860C>A (p.Asp3620Glu)
2g.73572734C>GCA347285900ALMS1c.10476C>G (p.Asp3492Glu)
c.3562C>G
c.7757C>G
c.4923C>G (p.Asp1641Glu)
c.7802C>G
c.10857C>G (p.Asp3619Glu)
c.1011C>G (p.Asp337Glu)
c.2213C>G
c.245C>G
c.1954C>G
c.4348C>G (n.4348C>G)
c.10731C>G (p.Asp3577Glu)
n.4660C>G
c.10860C>G (p.Asp3620Glu)
2g.73572734C>TCA427024662ALMS1c.10476C>T (p.Asp3492=)
c.3562C>T
c.7757C>T
c.4923C>T (p.Asp1641=)
c.7802C>T
c.10857C>T (p.Asp3619=)
c.1011C>T (p.Asp337=)
c.2213C>T
c.245C>T
c.1954C>T
c.4348C>T (n.4348C>T)
c.10731C>T (p.Asp3577=)
n.4660C>T
c.10860C>T (p.Asp3620=)
2g.73572735A=CA1261021775ALMS1c.10477A= (p.Arg3493=)
c.3563A=
c.7758A=
c.4924A= (p.Arg1642=)
c.7803A=
c.10858A= (p.Arg3620=)
c.1012A= (p.Arg338=)
c.2214A=
c.246A=
c.1955A=
c.4349A= (n.4349A=)
c.10732A= (p.Arg3578=)
n.4661A=
c.10861A= (p.Arg3621=)
2g.73572735A>CCA1715075ALMS1c.10477A>C (p.Arg3493=)
c.3563A>C
c.7758A>C
c.4924A>C (p.Arg1642=)
c.7803A>C
c.10858A>C (p.Arg3620=)
c.1012A>C (p.Arg338=)
c.2214A>C
c.246A>C
c.1955A>C
c.4349A>C (n.4349A>C)
c.10732A>C (p.Arg3578=)
n.4661A>C
c.10861A>C (p.Arg3621=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572735A>GCA347285905ALMS1c.10477A>G (p.Arg3493Gly)
c.3563A>G
c.7758A>G
c.4924A>G (p.Arg1642Gly)
c.7803A>G
c.10858A>G (p.Arg3620Gly)
c.1012A>G (p.Arg338Gly)
c.2214A>G
c.246A>G
c.1955A>G
c.4349A>G (n.4349A>G)
c.10732A>G (p.Arg3578Gly)
n.4661A>G
c.10861A>G (p.Arg3621Gly)
2g.73572735A>TCA347285907ALMS1c.10477A>T (p.Arg3493Trp)
c.3563A>T
c.7758A>T
c.4924A>T (p.Arg1642Trp)
c.7803A>T
c.10858A>T (p.Arg3620Trp)
c.1012A>T (p.Arg338Trp)
c.2214A>T
c.246A>T
c.1955A>T
c.4349A>T (n.4349A>T)
c.10732A>T (p.Arg3578Trp)
n.4661A>T
c.10861A>T (p.Arg3621Trp)
2g.73572736G>ACA347285910ALMS1c.10478G>A (p.Arg3493Lys)
c.3564G>A
c.7759G>A
c.4925G>A (p.Arg1642Lys)
c.7804G>A
c.10859G>A (p.Arg3620Lys)
c.1013G>A (p.Arg338Lys)
c.2215G>A
c.247G>A
c.1956G>A
c.4350G>A (n.4350G>A)
c.10733G>A (p.Arg3578Lys)
n.4662G>A
c.10862G>A (p.Arg3621Lys)
2g.73572736G>CCA347285912ALMS1c.10478G>C (p.Arg3493Thr)
c.3564G>C
c.7759G>C
c.4925G>C (p.Arg1642Thr)
c.7804G>C
c.10859G>C (p.Arg3620Thr)
c.1013G>C (p.Arg338Thr)
c.2215G>C
c.247G>C
c.1956G>C
c.4350G>C (n.4350G>C)
c.10733G>C (p.Arg3578Thr)
n.4662G>C
c.10862G>C (p.Arg3621Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.73572736G=CA1261021782ALMS1c.10478G= (p.Arg3493=)
c.3564G=
c.7759G=
c.4925G= (p.Arg1642=)
c.7804G=
c.10859G= (p.Arg3620=)
c.1013G= (p.Arg338=)
c.2215G=
c.247G=
c.1956G=
c.4350G= (n.4350G=)
c.10733G= (p.Arg3578=)
n.4662G=
c.10862G= (p.Arg3621=)
2g.73572736G>TCA347285915ALMS1c.10478G>T (p.Arg3493Met)
c.3564G>T
c.7759G>T
c.4925G>T (p.Arg1642Met)
c.7804G>T
c.10859G>T (p.Arg3620Met)
c.1013G>T (p.Arg338Met)
c.2215G>T
c.247G>T
c.1956G>T
c.4350G>T (n.4350G>T)
c.10733G>T (p.Arg3578Met)
n.4662G>T
c.10862G>T (p.Arg3621Met)
 gnomAD v4
2g.73572737delCA2580068172ALMS1c.10479del (p.Glu3495AsnfsTer?)
c.3565del
c.7760del
c.4926del (p.Glu1644AsnfsTer?)
c.7805del
c.10860del (p.Glu3622AsnfsTer?)
c.1014del (p.Glu340AsnfsTer?)
c.2216del
c.248del
c.1957del
c.4351del (n.4351del)
c.10734del (p.Glu3580AsnfsTer?)
n.4663del
c.10863del (p.Glu3623AsnfsTer?)
 ClinVar
2g.73572737G>ACA1715076ALMS1c.10479G>A (p.Arg3493=)
c.3565G>A
c.7760G>A
c.4926G>A (p.Arg1642=)
c.7805G>A
c.10860G>A (p.Arg3620=)
c.1014G>A (p.Arg338=)
c.2216G>A
c.248G>A
c.1957G>A
c.4351G>A (n.4351G>A)
c.10734G>A (p.Arg3578=)
n.4663G>A
c.10863G>A (p.Arg3621=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572737G>CCA1715077ALMS1c.10479G>C (p.Arg3493Ser)
c.3565G>C
c.7760G>C
c.4926G>C (p.Arg1642Ser)
c.7805G>C
c.10860G>C (p.Arg3620Ser)
c.1014G>C (p.Arg338Ser)
c.2216G>C
c.248G>C
c.1957G>C
c.4351G>C (n.4351G>C)
c.10734G>C (p.Arg3578Ser)
n.4663G>C
c.10863G>C (p.Arg3621Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572737G=CA1261021797ALMS1c.10479G= (p.Arg3493=)
c.3565G=
c.7760G=
c.4926G= (p.Arg1642=)
c.7805G=
c.10860G= (p.Arg3620=)
c.1014G= (p.Arg338=)
c.2216G=
c.248G=
c.1957G=
c.4351G= (n.4351G=)
c.10734G= (p.Arg3578=)
n.4663G=
c.10863G= (p.Arg3621=)
2g.73572737G>TCA347285920ALMS1c.10479G>T (p.Arg3493Ser)
c.3565G>T
c.7760G>T
c.4926G>T (p.Arg1642Ser)
c.7805G>T
c.10860G>T (p.Arg3620Ser)
c.1014G>T (p.Arg338Ser)
c.2216G>T
c.248G>T
c.1957G>T
c.4351G>T (n.4351G>T)
c.10734G>T (p.Arg3578Ser)
n.4663G>T
c.10863G>T (p.Arg3621Ser)
 gnomAD v4
2g.73572738A>CCA347285923ALMS1c.10480A>C (p.Lys3494Gln)
c.3566A>C
c.7761A>C
c.4927A>C (p.Lys1643Gln)
c.7806A>C
c.10861A>C (p.Lys3621Gln)
c.1015A>C (p.Lys339Gln)
c.2217A>C
c.249A>C
c.1958A>C
c.4352A>C (n.4352A>C)
c.10735A>C (p.Lys3579Gln)
n.4664A>C
c.10864A>C (p.Lys3622Gln)
2g.73572738A>GCA347285926ALMS1c.10480A>G (p.Lys3494Glu)
c.3566A>G
c.7761A>G
c.4927A>G (p.Lys1643Glu)
c.7806A>G
c.10861A>G (p.Lys3621Glu)
c.1015A>G (p.Lys339Glu)
c.2217A>G
c.249A>G
c.1958A>G
c.4352A>G (n.4352A>G)
c.10735A>G (p.Lys3579Glu)
n.4664A>G
c.10864A>G (p.Lys3622Glu)
2g.73572738A>TCA347285929ALMS1c.10480A>T (p.Lys3494Ter)
c.3566A>T
c.7761A>T
c.4927A>T (p.Lys1643Ter)
c.7806A>T
c.10861A>T (p.Lys3621Ter)
c.1015A>T (p.Lys339Ter)
c.2217A>T
c.249A>T
c.1958A>T
c.4352A>T (n.4352A>T)
c.10735A>T (p.Lys3579Ter)
n.4664A>T
c.10864A>T (p.Lys3622Ter)
2g.73572740dupCA1032214524ALMS1c.10482dup (p.Glu3495ArgfsTer9)
c.3568dup
c.7763dup
c.4929dup (p.Glu1644ArgfsTer9)
c.7808dup
c.10863dup (p.Glu3622ArgfsTer9)
c.1017dup (p.Glu340ArgfsTer9)
c.2219dup
c.251dup
c.1960dup
c.4354dup (n.4354dup)
c.10737dup (p.Glu3580ArgfsTer9)
n.4666dup
c.10866dup (p.Glu3623ArgfsTer9)
 dbSNP gnomAD v3 gnomAD v4
2g.73572739A=CA1261021812ALMS1c.10481A= (p.Lys3494=)
c.3567A=
c.7762A=
c.4928A= (p.Lys1643=)
c.7807A=
c.10862A= (p.Lys3621=)
c.1016A= (p.Lys339=)
c.2218A=
c.250A=
c.1959A=
c.4353A= (n.4353A=)
c.10736A= (p.Lys3579=)
n.4665A=
c.10865A= (p.Lys3622=)
2g.73572739A>CCA347285935ALMS1c.10481A>C (p.Lys3494Thr)
c.3567A>C
c.7762A>C
c.4928A>C (p.Lys1643Thr)
c.7807A>C
c.10862A>C (p.Lys3621Thr)
c.1016A>C (p.Lys339Thr)
c.2218A>C
c.250A>C
c.1959A>C
c.4353A>C (n.4353A>C)
c.10736A>C (p.Lys3579Thr)
n.4665A>C
c.10865A>C (p.Lys3622Thr)
2g.73572739A>GCA347285931ALMS1c.10481A>G (p.Lys3494Arg)
c.3567A>G
c.7762A>G
c.4928A>G (p.Lys1643Arg)
c.7807A>G
c.10862A>G (p.Lys3621Arg)
c.1016A>G (p.Lys339Arg)
c.2218A>G
c.250A>G
c.1959A>G
c.4353A>G (n.4353A>G)
c.10736A>G (p.Lys3579Arg)
n.4665A>G
c.10865A>G (p.Lys3622Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572739A>TCA347285933ALMS1c.10481A>T (p.Lys3494Ile)
c.3567A>T
c.7762A>T
c.4928A>T (p.Lys1643Ile)
c.7807A>T
c.10862A>T (p.Lys3621Ile)
c.1016A>T (p.Lys339Ile)
c.2218A>T
c.250A>T
c.1959A>T
c.4353A>T (n.4353A>T)
c.10736A>T (p.Lys3579Ile)
n.4665A>T
c.10865A>T (p.Lys3622Ile)
2g.73572740A=CA1261021818ALMS1c.10482A= (p.Lys3494=)
c.3568A=
c.7763A=
c.4929A= (p.Lys1643=)
c.7808A=
c.10863A= (p.Lys3621=)
c.1017A= (p.Lys339=)
c.2219A=
c.251A=
c.1960A=
c.4354A= (n.4354A=)
c.10737A= (p.Lys3579=)
n.4666A=
c.10866A= (p.Lys3622=)
2g.73572740A>CCA347285938ALMS1c.10482A>C (p.Lys3494Asn)
c.3568A>C
c.7763A>C
c.4929A>C (p.Lys1643Asn)
c.7808A>C
c.10863A>C (p.Lys3621Asn)
c.1017A>C (p.Lys339Asn)
c.2219A>C
c.251A>C
c.1960A>C
c.4354A>C (n.4354A>C)
c.10737A>C (p.Lys3579Asn)
n.4666A>C
c.10866A>C (p.Lys3622Asn)
2g.73572740A>GCA427023970ALMS1c.10482A>G (p.Lys3494=)
c.3568A>G
c.7763A>G
c.4929A>G (p.Lys1643=)
c.7808A>G
c.10863A>G (p.Lys3621=)
c.1017A>G (p.Lys339=)
c.2219A>G
c.251A>G
c.1960A>G
c.4354A>G (n.4354A>G)
c.10737A>G (p.Lys3579=)
n.4666A>G
c.10866A>G (p.Lys3622=)
 ClinVar dbSNP
2g.73572740A>TCA347285941ALMS1c.10482A>T (p.Lys3494Asn)
c.3568A>T
c.7763A>T
c.4929A>T (p.Lys1643Asn)
c.7808A>T
c.10863A>T (p.Lys3621Asn)
c.1017A>T (p.Lys339Asn)
c.2219A>T
c.251A>T
c.1960A>T
c.4354A>T (n.4354A>T)
c.10737A>T (p.Lys3579Asn)
n.4666A>T
c.10866A>T (p.Lys3622Asn)
2g.73572741G>ACA347285945ALMS1c.10483G>A (p.Glu3495Lys)
c.3569G>A
c.7764G>A
c.4930G>A (p.Glu1644Lys)
c.7809G>A
c.10864G>A (p.Glu3622Lys)
c.1018G>A (p.Glu340Lys)
c.2220G>A
c.252G>A
c.1961G>A
c.4355G>A (n.4355G>A)
c.10738G>A (p.Glu3580Lys)
n.4667G>A
c.10867G>A (p.Glu3623Lys)
2g.73572741G>CCA347285946ALMS1c.10483G>C (p.Glu3495Gln)
c.3569G>C
c.7764G>C
c.4930G>C (p.Glu1644Gln)
c.7809G>C
c.10864G>C (p.Glu3622Gln)
c.1018G>C (p.Glu340Gln)
c.2220G>C
c.252G>C
c.1961G>C
c.4355G>C (n.4355G>C)
c.10738G>C (p.Glu3580Gln)
n.4667G>C
c.10867G>C (p.Glu3623Gln)
2g.73572741G>TCA347285947ALMS1c.10483G>T (p.Glu3495Ter)
c.3569G>T
c.7764G>T
c.4930G>T (p.Glu1644Ter)
c.7809G>T
c.10864G>T (p.Glu3622Ter)
c.1018G>T (p.Glu340Ter)
c.2220G>T
c.252G>T
c.1961G>T
c.4355G>T (n.4355G>T)
c.10738G>T (p.Glu3580Ter)
n.4667G>T
c.10867G>T (p.Glu3623Ter)
2g.73572742A=CA1261021823ALMS1c.10484A= (p.Glu3495=)
c.3570A=
c.7765A=
c.4931A= (p.Glu1644=)
c.7810A=
c.10865A= (p.Glu3622=)
c.1019A= (p.Glu340=)
c.2221A=
c.253A=
c.1962A=
c.4356A= (n.4356A=)
c.10739A= (p.Glu3580=)
n.4668A=
c.10868A= (p.Glu3623=)
2g.73572742A>CCA347285948ALMS1c.10484A>C (p.Glu3495Ala)
c.3570A>C
c.7765A>C
c.4931A>C (p.Glu1644Ala)
c.7810A>C
c.10865A>C (p.Glu3622Ala)
c.1019A>C (p.Glu340Ala)
c.2221A>C
c.253A>C
c.1962A>C
c.4356A>C (n.4356A>C)
c.10739A>C (p.Glu3580Ala)
n.4668A>C
c.10868A>C (p.Glu3623Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.73572742A>GCA347285949ALMS1c.10484A>G (p.Glu3495Gly)
c.3570A>G
c.7765A>G
c.4931A>G (p.Glu1644Gly)
c.7810A>G
c.10865A>G (p.Glu3622Gly)
c.1019A>G (p.Glu340Gly)
c.2221A>G
c.253A>G
c.1962A>G
c.4356A>G (n.4356A>G)
c.10739A>G (p.Glu3580Gly)
n.4668A>G
c.10868A>G (p.Glu3623Gly)
2g.73572742A>TCA347285950ALMS1c.10484A>T (p.Glu3495Val)
c.3570A>T
c.7765A>T
c.4931A>T (p.Glu1644Val)
c.7810A>T
c.10865A>T (p.Glu3622Val)
c.1019A>T (p.Glu340Val)
c.2221A>T
c.253A>T
c.1962A>T
c.4356A>T (n.4356A>T)
c.10739A>T (p.Glu3580Val)
n.4668A>T
c.10868A>T (p.Glu3623Val)
2g.73572743A=CA1261021830ALMS1c.10485A= (p.Glu3495=)
c.3571A=
c.7766A=
c.4932A= (p.Glu1644=)
c.7811A=
c.10866A= (p.Glu3622=)
c.1020A= (p.Glu340=)
c.2222A=
c.254A=
c.1963A=
c.4357A= (n.4357A=)
c.10740A= (p.Glu3580=)
n.4669A=
c.10869A= (p.Glu3623=)
2g.73572743A>CCA347285951ALMS1c.10485A>C (p.Glu3495Asp)
c.3571A>C
c.7766A>C
c.4932A>C (p.Glu1644Asp)
c.7811A>C
c.10866A>C (p.Glu3622Asp)
c.1020A>C (p.Glu340Asp)
c.2222A>C
c.254A>C
c.1963A>C
c.4357A>C (n.4357A>C)
c.10740A>C (p.Glu3580Asp)
n.4669A>C
c.10869A>C (p.Glu3623Asp)
2g.73572743A>GCA1715078ALMS1c.10485A>G (p.Glu3495=)
c.3571A>G
c.7766A>G
c.4932A>G (p.Glu1644=)
c.7811A>G
c.10866A>G (p.Glu3622=)
c.1020A>G (p.Glu340=)
c.2222A>G
c.254A>G
c.1963A>G
c.4357A>G (n.4357A>G)
c.10740A>G (p.Glu3580=)
n.4669A>G
c.10869A>G (p.Glu3623=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572743A>TCA347285952ALMS1c.10485A>T (p.Glu3495Asp)
c.3571A>T
c.7766A>T
c.4932A>T (p.Glu1644Asp)
c.7811A>T
c.10866A>T (p.Glu3622Asp)
c.1020A>T (p.Glu340Asp)
c.2222A>T
c.254A>T
c.1963A>T
c.4357A>T (n.4357A>T)
c.10740A>T (p.Glu3580Asp)
n.4669A>T
c.10869A>T (p.Glu3623Asp)
2g.73572744C>ACA347285954ALMS1c.10486C>A (p.Leu3496Met)
c.3572C>A
c.7767C>A
c.4933C>A (p.Leu1645Met)
c.7812C>A
c.10867C>A (p.Leu3623Met)
c.1021C>A (p.Leu341Met)
c.2223C>A
c.255C>A
c.1964C>A
c.4358C>A (n.4358C>A)
c.10741C>A (p.Leu3581Met)
n.4670C>A
c.10870C>A (p.Leu3624Met)
2g.73572744C=CA1261021839ALMS1c.10486C= (p.Leu3496=)
c.3572C=
c.7767C=
c.4933C= (p.Leu1645=)
c.7812C=
c.10867C= (p.Leu3623=)
c.1021C= (p.Leu341=)
c.2223C=
c.255C=
c.1964C=
c.4358C= (n.4358C=)
c.10741C= (p.Leu3581=)
n.4670C=
c.10870C= (p.Leu3624=)
2g.73572744C>GCA347285953ALMS1c.10486C>G (p.Leu3496Val)
c.3572C>G
c.7767C>G
c.4933C>G (p.Leu1645Val)
c.7812C>G
c.10867C>G (p.Leu3623Val)
c.1021C>G (p.Leu341Val)
c.2223C>G
c.255C>G
c.1964C>G
c.4358C>G (n.4358C>G)
c.10741C>G (p.Leu3581Val)
n.4670C>G
c.10870C>G (p.Leu3624Val)
 dbSNP gnomAD v2 gnomAD v4
2g.73572744C>TCA1715079ALMS1c.10486C>T (p.Leu3496=)
c.3572C>T
c.7767C>T
c.4933C>T (p.Leu1645=)
c.7812C>T
c.10867C>T (p.Leu3623=)
c.1021C>T (p.Leu341=)
c.2223C>T
c.255C>T
c.1964C>T
c.4358C>T (n.4358C>T)
c.10741C>T (p.Leu3581=)
n.4670C>T
c.10870C>T (p.Leu3624=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572745T>ACA347285957ALMS1c.10487T>A (p.Leu3496Gln)
c.3573T>A
c.7768T>A
c.4934T>A (p.Leu1645Gln)
c.7813T>A
c.10868T>A (p.Leu3623Gln)
c.1022T>A (p.Leu341Gln)
c.2224T>A
c.256T>A
c.1965T>A
c.4359T>A (n.4359T>A)
c.10742T>A (p.Leu3581Gln)
n.4671T>A
c.10871T>A (p.Leu3624Gln)
2g.73572745T>CCA347285959ALMS1c.10487T>C (p.Leu3496Pro)
c.3573T>C
c.7768T>C
c.4934T>C (p.Leu1645Pro)
c.7813T>C
c.10868T>C (p.Leu3623Pro)
c.1022T>C (p.Leu341Pro)
c.2224T>C
c.256T>C
c.1965T>C
c.4359T>C (n.4359T>C)
c.10742T>C (p.Leu3581Pro)
n.4671T>C
c.10871T>C (p.Leu3624Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572745T>GCA347285960ALMS1c.10487T>G (p.Leu3496Arg)
c.3573T>G
c.7768T>G
c.4934T>G (p.Leu1645Arg)
c.7813T>G
c.10868T>G (p.Leu3623Arg)
c.1022T>G (p.Leu341Arg)
c.2224T>G
c.256T>G
c.1965T>G
c.4359T>G (n.4359T>G)
c.10742T>G (p.Leu3581Arg)
n.4671T>G
c.10871T>G (p.Leu3624Arg)
2g.73572745T=CA1261021842ALMS1c.10487T= (p.Leu3496=)
c.3573T=
c.7768T=
c.4934T= (p.Leu1645=)
c.7813T=
c.10868T= (p.Leu3623=)
c.1022T= (p.Leu341=)
c.2224T=
c.256T=
c.1965T=
c.4359T= (n.4359T=)
c.10742T= (p.Leu3581=)
n.4671T=
c.10871T= (p.Leu3624=)
2g.73572746G>ACA1715080ALMS1c.10488G>A (p.Leu3496=)
c.3574G>A
c.7769G>A
c.4935G>A (p.Leu1645=)
c.7814G>A
c.10869G>A (p.Leu3623=)
c.1023G>A (p.Leu341=)
c.2225G>A
c.257G>A
c.1966G>A
c.4360G>A (n.4360G>A)
c.10743G>A (p.Leu3581=)
n.4672G>A
c.10872G>A (p.Leu3624=)
 dbSNP ExAC gnomAD v2
2g.73572746G>CCA427023982ALMS1c.10488G>C (p.Leu3496=)
c.3574G>C
c.7769G>C
c.4935G>C (p.Leu1645=)
c.7814G>C
c.10869G>C (p.Leu3623=)
c.1023G>C (p.Leu341=)
c.2225G>C
c.257G>C
c.1966G>C
c.4360G>C (n.4360G>C)
c.10743G>C (p.Leu3581=)
n.4672G>C
c.10872G>C (p.Leu3624=)
 ClinVar dbSNP
2g.73572746G=CA1261021849ALMS1c.10488G= (p.Leu3496=)
c.3574G=
c.7769G=
c.4935G= (p.Leu1645=)
c.7814G=
c.10869G= (p.Leu3623=)
c.1023G= (p.Leu341=)
c.2225G=
c.257G=
c.1966G=
c.4360G= (n.4360G=)
c.10743G= (p.Leu3581=)
n.4672G=
c.10872G= (p.Leu3624=)
2g.73572746G>TCA427023980ALMS1c.10488G>T (p.Leu3496=)
c.3574G>T
c.7769G>T
c.4935G>T (p.Leu1645=)
c.7814G>T
c.10869G>T (p.Leu3623=)
c.1023G>T (p.Leu341=)
c.2225G>T
c.257G>T
c.1966G>T
c.4360G>T (n.4360G>T)
c.10743G>T (p.Leu3581=)
n.4672G>T
c.10872G>T (p.Leu3624=)
2g.73572747T>ACA347285963ALMS1c.10489T>A (p.Ser3497Thr)
c.3575T>A
c.7770T>A
c.4936T>A (p.Ser1646Thr)
c.7815T>A
c.10870T>A (p.Ser3624Thr)
c.1024T>A (p.Ser342Thr)
c.2226T>A
c.258T>A
c.1967T>A
c.4361T>A (n.4361T>A)
c.10744T>A (p.Ser3582Thr)
n.4673T>A
c.10873T>A (p.Ser3625Thr)
2g.73572747T>CCA347285964ALMS1c.10489T>C (p.Ser3497Pro)
c.3575T>C
c.7770T>C
c.4936T>C (p.Ser1646Pro)
c.7815T>C
c.10870T>C (p.Ser3624Pro)
c.1024T>C (p.Ser342Pro)
c.2226T>C
c.258T>C
c.1967T>C
c.4361T>C (n.4361T>C)
c.10744T>C (p.Ser3582Pro)
n.4673T>C
c.10873T>C (p.Ser3625Pro)
 ClinVar dbSNP
2g.73572747T>GCA347285966ALMS1c.10489T>G (p.Ser3497Ala)
c.3575T>G
c.7770T>G
c.4936T>G (p.Ser1646Ala)
c.7815T>G
c.10870T>G (p.Ser3624Ala)
c.1024T>G (p.Ser342Ala)
c.2226T>G
c.258T>G
c.1967T>G
c.4361T>G (n.4361T>G)
c.10744T>G (p.Ser3582Ala)
n.4673T>G
c.10873T>G (p.Ser3625Ala)
2g.73572747T=CA1261021858ALMS1c.10489T= (p.Ser3497=)
c.3575T=
c.7770T=
c.4936T= (p.Ser1646=)
c.7815T=
c.10870T= (p.Ser3624=)
c.1024T= (p.Ser342=)
c.2226T=
c.258T=
c.1967T=
c.4361T= (n.4361T=)
c.10744T= (p.Ser3582=)
n.4673T=
c.10873T= (p.Ser3625=)
2g.73572748C>ACA347285968ALMS1c.10490C>A (p.Ser3497Tyr)
c.3576C>A
c.7771C>A
c.4937C>A (p.Ser1646Tyr)
c.7816C>A
c.10871C>A (p.Ser3624Tyr)
c.1025C>A (p.Ser342Tyr)
c.2227C>A
c.259C>A
c.1968C>A
c.4362C>A (n.4362C>A)
c.10745C>A (p.Ser3582Tyr)
n.4674C>A
c.10874C>A (p.Ser3625Tyr)
2g.73572748C>GCA347285969ALMS1c.10490C>G (p.Ser3497Cys)
c.3576C>G
c.7771C>G
c.4937C>G (p.Ser1646Cys)
c.7816C>G
c.10871C>G (p.Ser3624Cys)
c.1025C>G (p.Ser342Cys)
c.2227C>G
c.259C>G
c.1968C>G
c.4362C>G (n.4362C>G)
c.10745C>G (p.Ser3582Cys)
n.4674C>G
c.10874C>G (p.Ser3625Cys)
2g.73572748C>TCA347285970ALMS1c.10490C>T (p.Ser3497Phe)
c.3576C>T
c.7771C>T
c.4937C>T (p.Ser1646Phe)
c.7816C>T
c.10871C>T (p.Ser3624Phe)
c.1025C>T (p.Ser342Phe)
c.2227C>T
c.259C>T
c.1968C>T
c.4362C>T (n.4362C>T)
c.10745C>T (p.Ser3582Phe)
n.4674C>T
c.10874C>T (p.Ser3625Phe)
2g.73572749C>ACA427023984ALMS1c.10491C>A (p.Ser3497=)
c.3577C>A
c.7772C>A
c.4938C>A (p.Ser1646=)
c.7817C>A
c.10872C>A (p.Ser3624=)
c.1026C>A (p.Ser342=)
c.2228C>A
c.260C>A
c.1969C>A
c.4363C>A (n.4363C>A)
c.10746C>A (p.Ser3582=)
n.4675C>A
c.10875C>A (p.Ser3625=)
 gnomAD v4
2g.73572749C=CA1261021863ALMS1c.10491C= (p.Ser3497=)
c.3577C=
c.7772C=
c.4938C= (p.Ser1646=)
c.7817C=
c.10872C= (p.Ser3624=)
c.1026C= (p.Ser342=)
c.2228C=
c.260C=
c.1969C=
c.4363C= (n.4363C=)
c.10746C= (p.Ser3582=)
n.4675C=
c.10875C= (p.Ser3625=)
2g.73572749C>GCA427023986ALMS1c.10491C>G (p.Ser3497=)
c.3577C>G
c.7772C>G
c.4938C>G (p.Ser1646=)
c.7817C>G
c.10872C>G (p.Ser3624=)
c.1026C>G (p.Ser342=)
c.2228C>G
c.260C>G
c.1969C>G
c.4363C>G (n.4363C>G)
c.10746C>G (p.Ser3582=)
n.4675C>G
c.10875C>G (p.Ser3625=)
2g.73572749C>TCA50386517ALMS1c.10491C>T (p.Ser3497=)
c.3577C>T
c.7772C>T
c.4938C>T (p.Ser1646=)
c.7817C>T
c.10872C>T (p.Ser3624=)
c.1026C>T (p.Ser342=)
c.2228C>T
c.260C>T
c.1969C>T
c.4363C>T (n.4363C>T)
c.10746C>T (p.Ser3582=)
n.4675C>T
c.10875C>T (p.Ser3625=)
 ClinVar dbSNP
2g.73572750T>ACA347285971ALMS1c.10492T>A (p.Leu3498Met)
c.3578T>A
c.7773T>A
c.4939T>A (p.Leu1647Met)
c.7818T>A
c.10873T>A (p.Leu3625Met)
c.1027T>A (p.Leu343Met)
c.2229T>A
c.261T>A
c.1970T>A
c.4364T>A (n.4364T>A)
c.10747T>A (p.Leu3583Met)
n.4676T>A
c.10876T>A (p.Leu3626Met)
 ClinVar
2g.73572750T>CCA1715081ALMS1c.10492T>C (p.Leu3498=)
c.3578T>C
c.7773T>C
c.4939T>C (p.Leu1647=)
c.7818T>C
c.10873T>C (p.Leu3625=)
c.1027T>C (p.Leu343=)
c.2229T>C
c.261T>C
c.1970T>C
c.4364T>C (n.4364T>C)
c.10747T>C (p.Leu3583=)
n.4676T>C
c.10876T>C (p.Leu3626=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572750T>GCA347285974ALMS1c.10492T>G (p.Leu3498Val)
c.3578T>G
c.7773T>G
c.4939T>G (p.Leu1647Val)
c.7818T>G
c.10873T>G (p.Leu3625Val)
c.1027T>G (p.Leu343Val)
c.2229T>G
c.261T>G
c.1970T>G
c.4364T>G (n.4364T>G)
c.10747T>G (p.Leu3583Val)
n.4676T>G
c.10876T>G (p.Leu3626Val)
2g.73572750T=CA1261021866ALMS1c.10492T= (p.Leu3498=)
c.3578T=
c.7773T=
c.4939T= (p.Leu1647=)
c.7818T=
c.10873T= (p.Leu3625=)
c.1027T= (p.Leu343=)
c.2229T=
c.261T=
c.1970T=
c.4364T= (n.4364T=)
c.10747T= (p.Leu3583=)
n.4676T=
c.10876T= (p.Leu3626=)
2g.73572751T>ACA347285976ALMS1c.10493T>A (p.Leu3498Ter)
c.3579T>A
c.7774T>A
c.4940T>A (p.Leu1647Ter)
c.7819T>A
c.10874T>A (p.Leu3625Ter)
c.1028T>A (p.Leu343Ter)
c.2230T>A
c.262T>A
c.1971T>A
c.4365T>A (n.4365T>A)
c.10748T>A (p.Leu3583Ter)
n.4677T>A
c.10877T>A (p.Leu3626Ter)
 ClinVar
2g.73572751T>CCA347285980ALMS1c.10493T>C (p.Leu3498Ser)
c.3579T>C
c.7774T>C
c.4940T>C (p.Leu1647Ser)
c.7819T>C
c.10874T>C (p.Leu3625Ser)
c.1028T>C (p.Leu343Ser)
c.2230T>C
c.262T>C
c.1971T>C
c.4365T>C (n.4365T>C)
c.10748T>C (p.Leu3583Ser)
n.4677T>C
c.10877T>C (p.Leu3626Ser)
2g.73572751T>GCA347285978ALMS1c.10493T>G (p.Leu3498Trp)
c.3579T>G
c.7774T>G
c.4940T>G (p.Leu1647Trp)
c.7819T>G
c.10874T>G (p.Leu3625Trp)
c.1028T>G (p.Leu343Trp)
c.2230T>G
c.262T>G
c.1971T>G
c.4365T>G (n.4365T>G)
c.10748T>G (p.Leu3583Trp)
n.4677T>G
c.10877T>G (p.Leu3626Trp)
2g.73572752G>ACA427023992ALMS1c.10494G>A (p.Leu3498=)
c.3580G>A
c.7775G>A
c.4941G>A (p.Leu1647=)
c.7820G>A
c.10875G>A (p.Leu3625=)
c.1029G>A (p.Leu343=)
c.2231G>A
c.263G>A
c.1972G>A
c.4366G>A (n.4366G>A)
c.10749G>A (p.Leu3583=)
n.4678G>A
c.10878G>A (p.Leu3626=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572752G>CCA347285982ALMS1c.10494G>C (p.Leu3498Phe)
c.3580G>C
c.7775G>C
c.4941G>C (p.Leu1647Phe)
c.7820G>C
c.10875G>C (p.Leu3625Phe)
c.1029G>C (p.Leu343Phe)
c.2231G>C
c.263G>C
c.1972G>C
c.4366G>C (n.4366G>C)
c.10749G>C (p.Leu3583Phe)
n.4678G>C
c.10878G>C (p.Leu3626Phe)
 gnomAD v4
2g.73572752G=CA1261021871ALMS1c.10494G= (p.Leu3498=)
c.3580G=
c.7775G=
c.4941G= (p.Leu1647=)
c.7820G=
c.10875G= (p.Leu3625=)
c.1029G= (p.Leu343=)
c.2231G=
c.263G=
c.1972G=
c.4366G= (n.4366G=)
c.10749G= (p.Leu3583=)
n.4678G=
c.10878G= (p.Leu3626=)
2g.73572752G>TCA347285983ALMS1c.10494G>T (p.Leu3498Phe)
c.3580G>T
c.7775G>T
c.4941G>T (p.Leu1647Phe)
c.7820G>T
c.10875G>T (p.Leu3625Phe)
c.1029G>T (p.Leu343Phe)
c.2231G>T
c.263G>T
c.1972G>T
c.4366G>T (n.4366G>T)
c.10749G>T (p.Leu3583Phe)
n.4678G>T
c.10878G>T (p.Leu3626Phe)
2g.73572753delCA2739271097ALMS1c.10495del (p.Val3499TrpfsTer?)
c.3581del
c.7776del
c.4942del (p.Val1648TrpfsTer?)
c.7821del
c.10876del (p.Val3626TrpfsTer?)
c.1030del (p.Val344TrpfsTer?)
c.2232del
c.264del
c.1973del
c.4367del (n.4367del)
c.10750del (p.Val3584TrpfsTer?)
n.4679del
c.10879del (p.Val3627TrpfsTer?)
 ClinVar
2g.73572753G>ACA347285985ALMS1c.10495G>A (p.Val3499Met)
c.3581G>A
c.7776G>A
c.4942G>A (p.Val1648Met)
c.7821G>A
c.10876G>A (p.Val3626Met)
c.1030G>A (p.Val344Met)
c.2232G>A
c.264G>A
c.1973G>A
c.4367G>A (n.4367G>A)
c.10750G>A (p.Val3584Met)
n.4679G>A
c.10879G>A (p.Val3627Met)
 dbSNP
2g.73572753G>CCA347285987ALMS1c.10495G>C (p.Val3499Leu)
c.3581G>C
c.7776G>C
c.4942G>C (p.Val1648Leu)
c.7821G>C
c.10876G>C (p.Val3626Leu)
c.1030G>C (p.Val344Leu)
c.2232G>C
c.264G>C
c.1973G>C
c.4367G>C (n.4367G>C)
c.10750G>C (p.Val3584Leu)
n.4679G>C
c.10879G>C (p.Val3627Leu)
2g.73572753G=CA1261021876ALMS1c.10495G= (p.Val3499=)
c.3581G=
c.7776G=
c.4942G= (p.Val1648=)
c.7821G=
c.10876G= (p.Val3626=)
c.1030G= (p.Val344=)
c.2232G=
c.264G=
c.1973G=
c.4367G= (n.4367G=)
c.10750G= (p.Val3584=)
n.4679G=
c.10879G= (p.Val3627=)
2g.73572753G>TCA347285989ALMS1c.10495G>T (p.Val3499Leu)
c.3581G>T
c.7776G>T
c.4942G>T (p.Val1648Leu)
c.7821G>T
c.10876G>T (p.Val3626Leu)
c.1030G>T (p.Val344Leu)
c.2232G>T
c.264G>T
c.1973G>T
c.4367G>T (n.4367G>T)
c.10750G>T (p.Val3584Leu)
n.4679G>T
c.10879G>T (p.Val3627Leu)
2g.73572754T>ACA347285990ALMS1c.10496T>A (p.Val3499Glu)
c.3582T>A
c.7777T>A
c.4943T>A (p.Val1648Glu)
c.7822T>A
c.10877T>A (p.Val3626Glu)
c.1031T>A (p.Val344Glu)
c.2233T>A
c.265T>A
c.1974T>A
c.4368T>A (n.4368T>A)
c.10751T>A (p.Val3584Glu)
n.4680T>A
c.10880T>A (p.Val3627Glu)
2g.73572754T>CCA347285991ALMS1c.10496T>C (p.Val3499Ala)
c.3582T>C
c.7777T>C
c.4943T>C (p.Val1648Ala)
c.7822T>C
c.10877T>C (p.Val3626Ala)
c.1031T>C (p.Val344Ala)
c.2233T>C
c.265T>C
c.1974T>C
c.4368T>C (n.4368T>C)
c.10751T>C (p.Val3584Ala)
n.4680T>C
c.10880T>C (p.Val3627Ala)
2g.73572754T>GCA347285993ALMS1c.10496T>G (p.Val3499Gly)
c.3582T>G
c.7777T>G
c.4943T>G (p.Val1648Gly)
c.7822T>G
c.10877T>G (p.Val3626Gly)
c.1031T>G (p.Val344Gly)
c.2233T>G
c.265T>G
c.1974T>G
c.4368T>G (n.4368T>G)
c.10751T>G (p.Val3584Gly)
n.4680T>G
c.10880T>G (p.Val3627Gly)
2g.73572755G>ACA427023994ALMS1c.10497G>A (p.Val3499=)
c.3583G>A
c.7778G>A
c.4944G>A (p.Val1648=)
c.7823G>A
c.10878G>A (p.Val3626=)
c.1032G>A (p.Val344=)
c.2234G>A
c.266G>A
c.1975G>A
c.4369G>A (n.4369G>A)
c.10752G>A (p.Val3584=)
n.4681G>A
c.10881G>A (p.Val3627=)
2g.73572755G>CCA427023995ALMS1c.10497G>C (p.Val3499=)
c.3583G>C
c.7778G>C
c.4944G>C (p.Val1648=)
c.7823G>C
c.10878G>C (p.Val3626=)
c.1032G>C (p.Val344=)
c.2234G>C
c.266G>C
c.1975G>C
c.4369G>C (n.4369G>C)
c.10752G>C (p.Val3584=)
n.4681G>C
c.10881G>C (p.Val3627=)
2g.73572755G>TCA427023996ALMS1c.10497G>T (p.Val3499=)
c.3583G>T
c.7778G>T
c.4944G>T (p.Val1648=)
c.7823G>T
c.10878G>T (p.Val3626=)
c.1032G>T (p.Val344=)
c.2234G>T
c.266G>T
c.1975G>T
c.4369G>T (n.4369G>T)
c.10752G>T (p.Val3584=)
n.4681G>T
c.10881G>T (p.Val3627=)
2g.73572756G>ACA347285996ALMS1c.10498G>A (p.Asp3500Asn)
c.3584G>A
c.7779G>A
c.4945G>A (p.Asp1649Asn)
c.7824G>A
c.10879G>A (p.Asp3627Asn)
c.1033G>A (p.Asp345Asn)
c.2235G>A
c.267G>A
c.1976G>A
c.4370G>A (n.4370G>A)
c.10753G>A (p.Asp3585Asn)
n.4682G>A
c.10882G>A (p.Asp3628Asn)
 gnomAD v4
2g.73572756G>CCA347285997ALMS1c.10498G>C (p.Asp3500His)
c.3584G>C
c.7779G>C
c.4945G>C (p.Asp1649His)
c.7824G>C
c.10879G>C (p.Asp3627His)
c.1033G>C (p.Asp345His)
c.2235G>C
c.267G>C
c.1976G>C
c.4370G>C (n.4370G>C)
c.10753G>C (p.Asp3585His)
n.4682G>C
c.10882G>C (p.Asp3628His)
2g.73572756G>TCA347285999ALMS1c.10498G>T (p.Asp3500Tyr)
c.3584G>T
c.7779G>T
c.4945G>T (p.Asp1649Tyr)
c.7824G>T
c.10879G>T (p.Asp3627Tyr)
c.1033G>T (p.Asp345Tyr)
c.2235G>T
c.267G>T
c.1976G>T
c.4370G>T (n.4370G>T)
c.10753G>T (p.Asp3585Tyr)
n.4682G>T
c.10882G>T (p.Asp3628Tyr)
2g.73572757A>CCA347286005ALMS1c.10499A>C (p.Asp3500Ala)
c.3585A>C
c.7780A>C
c.4946A>C (p.Asp1649Ala)
c.7825A>C
c.10880A>C (p.Asp3627Ala)
c.1034A>C (p.Asp345Ala)
c.2236A>C
c.268A>C
c.1977A>C
c.4371A>C (n.4371A>C)
c.10754A>C (p.Asp3585Ala)
n.4683A>C
c.10883A>C (p.Asp3628Ala)
2g.73572757A>GCA347286003ALMS1c.10499A>G (p.Asp3500Gly)
c.3585A>G
c.7780A>G
c.4946A>G (p.Asp1649Gly)
c.7825A>G
c.10880A>G (p.Asp3627Gly)
c.1034A>G (p.Asp345Gly)
c.2236A>G
c.268A>G
c.1977A>G
c.4371A>G (n.4371A>G)
c.10754A>G (p.Asp3585Gly)
n.4683A>G
c.10883A>G (p.Asp3628Gly)
 gnomAD v4
2g.73572757A>TCA347286001ALMS1c.10499A>T (p.Asp3500Val)
c.3585A>T
c.7780A>T
c.4946A>T (p.Asp1649Val)
c.7825A>T
c.10880A>T (p.Asp3627Val)
c.1034A>T (p.Asp345Val)
c.2236A>T
c.268A>T
c.1977A>T
c.4371A>T (n.4371A>T)
c.10754A>T (p.Asp3585Val)
n.4683A>T
c.10883A>T (p.Asp3628Val)
2g.73572758C>ACA347286008ALMS1c.10500C>A (p.Asp3500Glu)
c.3586C>A
c.7781C>A
c.4947C>A (p.Asp1649Glu)
c.7826C>A
c.10881C>A (p.Asp3627Glu)
c.1035C>A (p.Asp345Glu)
c.2237C>A
c.269C>A
c.1978C>A
c.4372C>A (n.4372C>A)
c.10755C>A (p.Asp3585Glu)
n.4684C>A
c.10884C>A (p.Asp3628Glu)
2g.73572758C>GCA347286007ALMS1c.10500C>G (p.Asp3500Glu)
c.3586C>G
c.7781C>G
c.4947C>G (p.Asp1649Glu)
c.7826C>G
c.10881C>G (p.Asp3627Glu)
c.1035C>G (p.Asp345Glu)
c.2237C>G
c.269C>G
c.1978C>G
c.4372C>G (n.4372C>G)
c.10755C>G (p.Asp3585Glu)
n.4684C>G
c.10884C>G (p.Asp3628Glu)
2g.73572758C>TCA427024002ALMS1c.10500C>T (p.Asp3500=)
c.3586C>T
c.7781C>T
c.4947C>T (p.Asp1649=)
c.7826C>T
c.10881C>T (p.Asp3627=)
c.1035C>T (p.Asp345=)
c.2237C>T
c.269C>T
c.1978C>T
c.4372C>T (n.4372C>T)
c.10755C>T (p.Asp3585=)
n.4684C>T
c.10884C>T (p.Asp3628=)
2g.73572759C>ACA427024004ALMS1c.10501C>A (p.Arg3501=)
c.3587C>A
c.7782C>A
c.4948C>A (p.Arg1650=)
c.7827C>A
c.10882C>A (p.Arg3628=)
c.1036C>A (p.Arg346=)
c.2238C>A
c.270C>A
c.1979C>A
c.4373C>A (n.4373C>A)
c.10756C>A (p.Arg3586=)
n.4685C>A
c.10885C>A (p.Arg3629=)
2g.73572759C=CA1261021881ALMS1c.10501C= (p.Arg3501=)
c.3587C=
c.7782C=
c.4948C= (p.Arg1650=)
c.7827C=
c.10882C= (p.Arg3628=)
c.1036C= (p.Arg346=)
c.2238C=
c.270C=
c.1979C=
c.4373C= (n.4373C=)
c.10756C= (p.Arg3586=)
n.4685C=
c.10885C= (p.Arg3629=)
2g.73572759C>GCA347286011ALMS1c.10501C>G (p.Arg3501Gly)
c.3587C>G
c.7782C>G
c.4948C>G (p.Arg1650Gly)
c.7827C>G
c.10882C>G (p.Arg3628Gly)
c.1036C>G (p.Arg346Gly)
c.2238C>G
c.270C>G
c.1979C>G
c.4373C>G (n.4373C>G)
c.10756C>G (p.Arg3586Gly)
n.4685C>G
c.10885C>G (p.Arg3629Gly)
2g.73572759C>TCA347286010ALMS1c.10501C>T (p.Arg3501Ter)
c.3587C>T
c.7782C>T
c.4948C>T (p.Arg1650Ter)
c.7827C>T
c.10882C>T (p.Arg3628Ter)
c.1036C>T (p.Arg346Ter)
c.2238C>T
c.270C>T
c.1979C>T
c.4373C>T (n.4373C>T)
c.10756C>T (p.Arg3586Ter)
n.4685C>T
c.10885C>T (p.Arg3629Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572760G>ACA1715082ALMS1c.10502G>A (p.Arg3501Gln)
c.3588G>A
c.7783G>A
c.4949G>A (p.Arg1650Gln)
c.7828G>A
c.10883G>A (p.Arg3628Gln)
c.1037G>A (p.Arg346Gln)
c.2239G>A
c.271G>A
c.1980G>A
c.4374G>A (n.4374G>A)
c.10757G>A (p.Arg3586Gln)
n.4686G>A
c.10886G>A (p.Arg3629Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572760G>CCA347286014ALMS1c.10502G>C (p.Arg3501Pro)
c.3588G>C
c.7783G>C
c.4949G>C (p.Arg1650Pro)
c.7828G>C
c.10883G>C (p.Arg3628Pro)
c.1037G>C (p.Arg346Pro)
c.2239G>C
c.271G>C
c.1980G>C
c.4374G>C (n.4374G>C)
c.10757G>C (p.Arg3586Pro)
n.4686G>C
c.10886G>C (p.Arg3629Pro)
 ClinVar dbSNP gnomAD v2
2g.73572760G=CA1261021888ALMS1c.10502G= (p.Arg3501=)
c.3588G=
c.7783G=
c.4949G= (p.Arg1650=)
c.7828G=
c.10883G= (p.Arg3628=)
c.1037G= (p.Arg346=)
c.2239G=
c.271G=
c.1980G=
c.4374G= (n.4374G=)
c.10757G= (p.Arg3586=)
n.4686G=
c.10886G= (p.Arg3629=)
2g.73572760G>TCA347286016ALMS1c.10502G>T (p.Arg3501Leu)
c.3588G>T
c.7783G>T
c.4949G>T (p.Arg1650Leu)
c.7828G>T
c.10883G>T (p.Arg3628Leu)
c.1037G>T (p.Arg346Leu)
c.2239G>T
c.271G>T
c.1980G>T
c.4374G>T (n.4374G>T)
c.10757G>T (p.Arg3586Leu)
n.4686G>T
c.10886G>T (p.Arg3629Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.73572761A>CCA427024013ALMS1c.10503A>C (p.Arg3501=)
c.3589A>C
c.7784A>C
c.4950A>C (p.Arg1650=)
c.7829A>C
c.10884A>C (p.Arg3628=)
c.1038A>C (p.Arg346=)
c.2240A>C
c.272A>C
c.1981A>C
c.4375A>C (n.4375A>C)
c.10758A>C (p.Arg3586=)
n.4687A>C
c.10887A>C (p.Arg3629=)
2g.73572761A>GCA427024014ALMS1c.10503A>G (p.Arg3501=)
c.3589A>G
c.7784A>G
c.4950A>G (p.Arg1650=)
c.7829A>G
c.10884A>G (p.Arg3628=)
c.1038A>G (p.Arg346=)
c.2240A>G
c.272A>G
c.1981A>G
c.4375A>G (n.4375A>G)
c.10758A>G (p.Arg3586=)
n.4687A>G
c.10887A>G (p.Arg3629=)
2g.73572761A>TCA427024016ALMS1c.10503A>T (p.Arg3501=)
c.3589A>T
c.7784A>T
c.4950A>T (p.Arg1650=)
c.7829A>T
c.10884A>T (p.Arg3628=)
c.1038A>T (p.Arg346=)
c.2240A>T
c.272A>T
c.1981A>T
c.4375A>T (n.4375A>T)
c.10758A>T (p.Arg3586=)
n.4687A>T
c.10887A>T (p.Arg3629=)
2g.73572762C>ACA347286017ALMS1c.10504C>A (p.Leu3502Ile)
c.3590C>A
c.7785C>A
c.4951C>A (p.Leu1651Ile)
c.7830C>A
c.10885C>A (p.Leu3629Ile)
c.1039C>A (p.Leu347Ile)
c.2241C>A
c.273C>A
c.1982C>A
c.4376C>A (n.4376C>A)
c.10759C>A (p.Leu3587Ile)
n.4688C>A
c.10888C>A (p.Leu3630Ile)
2g.73572762C>GCA347286018ALMS1c.10504C>G (p.Leu3502Val)
c.3590C>G
c.7785C>G
c.4951C>G (p.Leu1651Val)
c.7830C>G
c.10885C>G (p.Leu3629Val)
c.1039C>G (p.Leu347Val)
c.2241C>G
c.273C>G
c.1982C>G
c.4376C>G (n.4376C>G)
c.10759C>G (p.Leu3587Val)
n.4688C>G
c.10888C>G (p.Leu3630Val)
2g.73572762C>TCA347286020ALMS1c.10504C>T (p.Leu3502Phe)
c.3590C>T
c.7785C>T
c.4951C>T (p.Leu1651Phe)
c.7830C>T
c.10885C>T (p.Leu3629Phe)
c.1039C>T (p.Leu347Phe)
c.2241C>T
c.273C>T
c.1982C>T
c.4376C>T (n.4376C>T)
c.10759C>T (p.Leu3587Phe)
n.4688C>T
c.10888C>T (p.Leu3630Phe)
 ClinVar gnomAD v4
2g.73572763T>ACA347286023ALMS1c.10505T>A (p.Leu3502His)
c.3591T>A
c.7786T>A
c.4952T>A (p.Leu1651His)
c.7831T>A
c.10886T>A (p.Leu3629His)
c.1040T>A (p.Leu347His)
c.2242T>A
c.274T>A
c.1983T>A
c.4377T>A (n.4377T>A)
c.10760T>A (p.Leu3587His)
n.4689T>A
c.10889T>A (p.Leu3630His)
2g.73572763T>CCA1715083ALMS1c.10505T>C (p.Leu3502Pro)
c.3591T>C
c.7786T>C
c.4952T>C (p.Leu1651Pro)
c.7831T>C
c.10886T>C (p.Leu3629Pro)
c.1040T>C (p.Leu347Pro)
c.2242T>C
c.274T>C
c.1983T>C
c.4377T>C (n.4377T>C)
c.10760T>C (p.Leu3587Pro)
n.4689T>C
c.10889T>C (p.Leu3630Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572763T>GCA347286025ALMS1c.10505T>G (p.Leu3502Arg)
c.3591T>G
c.7786T>G
c.4952T>G (p.Leu1651Arg)
c.7831T>G
c.10886T>G (p.Leu3629Arg)
c.1040T>G (p.Leu347Arg)
c.2242T>G
c.274T>G
c.1983T>G
c.4377T>G (n.4377T>G)
c.10760T>G (p.Leu3587Arg)
n.4689T>G
c.10889T>G (p.Leu3630Arg)
2g.73572763T=CA1261021893ALMS1c.10505T= (p.Leu3502=)
c.3591T=
c.7786T=
c.4952T= (p.Leu1651=)
c.7831T=
c.10886T= (p.Leu3629=)
c.1040T= (p.Leu347=)
c.2242T=
c.274T=
c.1983T=
c.4377T= (n.4377T=)
c.10760T= (p.Leu3587=)
n.4689T=
c.10889T= (p.Leu3630=)
2g.73572764T>ACA427024023ALMS1c.10506T>A (p.Leu3502=)
c.3592T>A
c.7787T>A
c.4953T>A (p.Leu1651=)
c.7832T>A
c.10887T>A (p.Leu3629=)
c.1041T>A (p.Leu347=)
c.2243T>A
c.275T>A
c.1984T>A
c.4378T>A (n.4378T>A)
c.10761T>A (p.Leu3587=)
n.4690T>A
c.10890T>A (p.Leu3630=)
2g.73572764T>CCA427024024ALMS1c.10506T>C (p.Leu3502=)
c.3592T>C
c.7787T>C
c.4953T>C (p.Leu1651=)
c.7832T>C
c.10887T>C (p.Leu3629=)
c.1041T>C (p.Leu347=)
c.2243T>C
c.275T>C
c.1984T>C
c.4378T>C (n.4378T>C)
c.10761T>C (p.Leu3587=)
n.4690T>C
c.10890T>C (p.Leu3630=)
2g.73572764T>GCA427024025ALMS1c.10506T>G (p.Leu3502=)
c.3592T>G
c.7787T>G
c.4953T>G (p.Leu1651=)
c.7832T>G
c.10887T>G (p.Leu3629=)
c.1041T>G (p.Leu347=)
c.2243T>G
c.275T>G
c.1984T>G
c.4378T>G (n.4378T>G)
c.10761T>G (p.Leu3587=)
n.4690T>G
c.10890T>G (p.Leu3630=)
2g.73572765G>ACA347286027ALMS1c.10507G>A (p.Asp3503Asn)
c.3593G>A
c.7788G>A
c.4954G>A (p.Asp1652Asn)
c.7833G>A
c.10888G>A (p.Asp3630Asn)
c.1042G>A (p.Asp348Asn)
c.2244G>A
c.276G>A
c.1985G>A
c.4379G>A (n.4379G>A)
c.10762G>A (p.Asp3588Asn)
n.4691G>A
c.10891G>A (p.Asp3631Asn)
2g.73572765G>CCA347286029ALMS1c.10507G>C (p.Asp3503His)
c.3593G>C
c.7788G>C
c.4954G>C (p.Asp1652His)
c.7833G>C
c.10888G>C (p.Asp3630His)
c.1042G>C (p.Asp348His)
c.2244G>C
c.276G>C
c.1985G>C
c.4379G>C (n.4379G>C)
c.10762G>C (p.Asp3588His)
n.4691G>C
c.10891G>C (p.Asp3631His)
2g.73572765G>TCA347286030ALMS1c.10507G>T (p.Asp3503Tyr)
c.3593G>T
c.7788G>T
c.4954G>T (p.Asp1652Tyr)
c.7833G>T
c.10888G>T (p.Asp3630Tyr)
c.1042G>T (p.Asp348Tyr)
c.2244G>T
c.276G>T
c.1985G>T
c.4379G>T (n.4379G>T)
c.10762G>T (p.Asp3588Tyr)
n.4691G>T
c.10891G>T (p.Asp3631Tyr)
2g.73572766A>CCA347286034ALMS1c.10508A>C (p.Asp3503Ala)
c.3594A>C
c.7789A>C
c.4955A>C (p.Asp1652Ala)
c.7834A>C
c.10889A>C (p.Asp3630Ala)
c.1043A>C (p.Asp348Ala)
c.2245A>C
c.277A>C
c.1986A>C
c.4380A>C (n.4380A>C)
c.10763A>C (p.Asp3588Ala)
n.4692A>C
c.10892A>C (p.Asp3631Ala)
2g.73572766A>GCA347286036ALMS1c.10508A>G (p.Asp3503Gly)
c.3594A>G
c.7789A>G
c.4955A>G (p.Asp1652Gly)
c.7834A>G
c.10889A>G (p.Asp3630Gly)
c.1043A>G (p.Asp348Gly)
c.2245A>G
c.277A>G
c.1986A>G
c.4380A>G (n.4380A>G)
c.10763A>G (p.Asp3588Gly)
n.4692A>G
c.10892A>G (p.Asp3631Gly)
2g.73572766A>TCA347286035ALMS1c.10508A>T (p.Asp3503Val)
c.3594A>T
c.7789A>T
c.4955A>T (p.Asp1652Val)
c.7834A>T
c.10889A>T (p.Asp3630Val)
c.1043A>T (p.Asp348Val)
c.2245A>T
c.277A>T
c.1986A>T
c.4380A>T (n.4380A>T)
c.10763A>T (p.Asp3588Val)
n.4692A>T
c.10892A>T (p.Asp3631Val)
2g.73572767T>ACA347286038ALMS1c.10509T>A (p.Asp3503Glu)
c.3595T>A
c.7790T>A
c.4956T>A (p.Asp1652Glu)
c.7835T>A
c.10890T>A (p.Asp3630Glu)
c.1044T>A (p.Asp348Glu)
c.2246T>A
c.278T>A
c.1987T>A
c.4381T>A (n.4381T>A)
c.10764T>A (p.Asp3588Glu)
n.4693T>A
c.10893T>A (p.Asp3631Glu)
2g.73572767T>CCA427024028ALMS1c.10509T>C (p.Asp3503=)
c.3595T>C
c.7790T>C
c.4956T>C (p.Asp1652=)
c.7835T>C
c.10890T>C (p.Asp3630=)
c.1044T>C (p.Asp348=)
c.2246T>C
c.278T>C
c.1987T>C
c.4381T>C (n.4381T>C)
c.10764T>C (p.Asp3588=)
n.4693T>C
c.10893T>C (p.Asp3631=)
2g.73572767T>GCA347286040ALMS1c.10509T>G (p.Asp3503Glu)
c.3595T>G
c.7790T>G
c.4956T>G (p.Asp1652Glu)
c.7835T>G
c.10890T>G (p.Asp3630Glu)
c.1044T>G (p.Asp348Glu)
c.2246T>G
c.278T>G
c.1987T>G
c.4381T>G (n.4381T>G)
c.10764T>G (p.Asp3588Glu)
n.4693T>G
c.10893T>G (p.Asp3631Glu)
 gnomAD v4
2g.73572768C>ACA347286041ALMS1c.10510C>A (p.Arg3504Ser)
c.3596C>A
c.7791C>A
c.4957C>A (p.Arg1653Ser)
c.7836C>A
c.10891C>A (p.Arg3631Ser)
c.1045C>A (p.Arg349Ser)
c.2247C>A
c.279C>A
c.1988C>A
c.4382C>A (n.4382C>A)
c.10765C>A (p.Arg3589Ser)
n.4694C>A
c.10894C>A (p.Arg3632Ser)
 gnomAD v4
2g.73572768C=CA1261021896ALMS1c.10510C= (p.Arg3504=)
c.3596C=
c.7791C=
c.4957C= (p.Arg1653=)
c.7836C=
c.10891C= (p.Arg3631=)
c.1045C= (p.Arg349=)
c.2247C=
c.279C=
c.1988C=
c.4382C= (n.4382C=)
c.10765C= (p.Arg3589=)
n.4694C=
c.10894C= (p.Arg3632=)
2g.73572768C>GCA347286043ALMS1c.10510C>G (p.Arg3504Gly)
c.3596C>G
c.7791C>G
c.4957C>G (p.Arg1653Gly)
c.7836C>G
c.10891C>G (p.Arg3631Gly)
c.1045C>G (p.Arg349Gly)
c.2247C>G
c.279C>G
c.1988C>G
c.4382C>G (n.4382C>G)
c.10765C>G (p.Arg3589Gly)
n.4694C>G
c.10894C>G (p.Arg3632Gly)
2g.73572768C>TCA1715084ALMS1c.10510C>T (p.Arg3504Cys)
c.3596C>T
c.7791C>T
c.4957C>T (p.Arg1653Cys)
c.7836C>T
c.10891C>T (p.Arg3631Cys)
c.1045C>T (p.Arg349Cys)
c.2247C>T
c.279C>T
c.1988C>T
c.4382C>T (n.4382C>T)
c.10765C>T (p.Arg3589Cys)
n.4694C>T
c.10894C>T (p.Arg3632Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572769G>ACA1715085ALMS1c.10511G>A (p.Arg3504His)
c.3597G>A
c.7792G>A
c.4958G>A (p.Arg1653His)
c.7837G>A
c.10892G>A (p.Arg3631His)
c.1046G>A (p.Arg349His)
c.2248G>A
c.280G>A
c.1989G>A
c.4383G>A (n.4383G>A)
c.10766G>A (p.Arg3589His)
n.4695G>A
c.10895G>A (p.Arg3632His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572769G>CCA347286047ALMS1c.10511G>C (p.Arg3504Pro)
c.3597G>C
c.7792G>C
c.4958G>C (p.Arg1653Pro)
c.7837G>C
c.10892G>C (p.Arg3631Pro)
c.1046G>C (p.Arg349Pro)
c.2248G>C
c.280G>C
c.1989G>C
c.4383G>C (n.4383G>C)
c.10766G>C (p.Arg3589Pro)
n.4695G>C
c.10895G>C (p.Arg3632Pro)
2g.73572769G=CA1261021901ALMS1c.10511G= (p.Arg3504=)
c.3597G=
c.7792G=
c.4958G= (p.Arg1653=)
c.7837G=
c.10892G= (p.Arg3631=)
c.1046G= (p.Arg349=)
c.2248G=
c.280G=
c.1989G=
c.4383G= (n.4383G=)
c.10766G= (p.Arg3589=)
n.4695G=
c.10895G= (p.Arg3632=)
2g.73572769G>TCA1715086ALMS1c.10511G>T (p.Arg3504Leu)
c.3597G>T
c.7792G>T
c.4958G>T (p.Arg1653Leu)
c.7837G>T
c.10892G>T (p.Arg3631Leu)
c.1046G>T (p.Arg349Leu)
c.2248G>T
c.280G>T
c.1989G>T
c.4383G>T (n.4383G>T)
c.10766G>T (p.Arg3589Leu)
n.4695G>T
c.10895G>T (p.Arg3632Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572770T>ACA427024034ALMS1c.10512T>A (p.Arg3504=)
c.3598T>A
c.7793T>A
c.4959T>A (p.Arg1653=)
c.7838T>A
c.10893T>A (p.Arg3631=)
c.1047T>A (p.Arg349=)
c.2249T>A
c.281T>A
c.1990T>A
c.4384T>A (n.4384T>A)
c.10767T>A (p.Arg3589=)
n.4696T>A
c.10896T>A (p.Arg3632=)
2g.73572770T>CCA427024035ALMS1c.10512T>C (p.Arg3504=)
c.3598T>C
c.7793T>C
c.4959T>C (p.Arg1653=)
c.7838T>C
c.10893T>C (p.Arg3631=)
c.1047T>C (p.Arg349=)
c.2249T>C
c.281T>C
c.1990T>C
c.4384T>C (n.4384T>C)
c.10767T>C (p.Arg3589=)
n.4696T>C
c.10896T>C (p.Arg3632=)
2g.73572770T>GCA427024036ALMS1c.10512T>G (p.Arg3504=)
c.3598T>G
c.7793T>G
c.4959T>G (p.Arg1653=)
c.7838T>G
c.10893T>G (p.Arg3631=)
c.1047T>G (p.Arg349=)
c.2249T>G
c.281T>G
c.1990T>G
c.4384T>G (n.4384T>G)
c.10767T>G (p.Arg3589=)
n.4696T>G
c.10896T>G (p.Arg3632=)
2g.73572772dupCA2586964955ALMS1c.10514dup (p.Leu3505PhefsTer3)
c.3600dup
c.7795dup
c.4961dup (p.Leu1654PhefsTer3)
c.7840dup
c.10895dup (p.Leu3632PhefsTer3)
c.1049dup (p.Leu350PhefsTer3)
c.2251dup
c.283dup
c.1992dup
c.4386dup (n.4386dup)
c.10769dup (p.Leu3590PhefsTer3)
n.4698dup
c.10898dup (p.Leu3633PhefsTer3)
2g.73572771T>ACA347286050ALMS1c.10513T>A (p.Leu3505Met)
c.3599T>A
c.7794T>A
c.4960T>A (p.Leu1654Met)
c.7839T>A
c.10894T>A (p.Leu3632Met)
c.1048T>A (p.Leu350Met)
c.2250T>A
c.282T>A
c.1991T>A
c.4385T>A (n.4385T>A)
c.10768T>A (p.Leu3590Met)
n.4697T>A
c.10897T>A (p.Leu3633Met)
2g.73572771T>CCA427024037ALMS1c.10513T>C (p.Leu3505=)
c.3599T>C
c.7794T>C
c.4960T>C (p.Leu1654=)
c.7839T>C
c.10894T>C (p.Leu3632=)
c.1048T>C (p.Leu350=)
c.2250T>C
c.282T>C
c.1991T>C
c.4385T>C (n.4385T>C)
c.10768T>C (p.Leu3590=)
n.4697T>C
c.10897T>C (p.Leu3633=)
2g.73572771T>GCA347286052ALMS1c.10513T>G (p.Leu3505Val)
c.3599T>G
c.7794T>G
c.4960T>G (p.Leu1654Val)
c.7839T>G
c.10894T>G (p.Leu3632Val)
c.1048T>G (p.Leu350Val)
c.2250T>G
c.282T>G
c.1991T>G
c.4385T>G (n.4385T>G)
c.10768T>G (p.Leu3590Val)
n.4697T>G
c.10897T>G (p.Leu3633Val)
2g.73572772T>ACA347286055ALMS1c.10514T>A (p.Leu3505Ter)
c.3600T>A
c.7795T>A
c.4961T>A (p.Leu1654Ter)
c.7840T>A
c.10895T>A (p.Leu3632Ter)
c.1049T>A (p.Leu350Ter)
c.2251T>A
c.283T>A
c.1992T>A
c.4386T>A (n.4386T>A)
c.10769T>A (p.Leu3590Ter)
n.4698T>A
c.10898T>A (p.Leu3633Ter)
2g.73572772T>CCA347286057ALMS1c.10514T>C (p.Leu3505Ser)
c.3600T>C
c.7795T>C
c.4961T>C (p.Leu1654Ser)
c.7840T>C
c.10895T>C (p.Leu3632Ser)
c.1049T>C (p.Leu350Ser)
c.2251T>C
c.283T>C
c.1992T>C
c.4386T>C (n.4386T>C)
c.10769T>C (p.Leu3590Ser)
n.4698T>C
c.10898T>C (p.Leu3633Ser)
2g.73572772T>GCA347286054ALMS1c.10514T>G (p.Leu3505Trp)
c.3600T>G
c.7795T>G
c.4961T>G (p.Leu1654Trp)
c.7840T>G
c.10895T>G (p.Leu3632Trp)
c.1049T>G (p.Leu350Trp)
c.2251T>G
c.283T>G
c.1992T>G
c.4386T>G (n.4386T>G)
c.10769T>G (p.Leu3590Trp)
n.4698T>G
c.10898T>G (p.Leu3633Trp)
 dbSNP gnomAD v3 gnomAD v4
2g.73572772T=CA1261021905ALMS1c.10514T= (p.Leu3505=)
c.3600T=
c.7795T=
c.4961T= (p.Leu1654=)
c.7840T=
c.10895T= (p.Leu3632=)
c.1049T= (p.Leu350=)
c.2251T=
c.283T=
c.1992T=
c.4386T= (n.4386T=)
c.10769T= (p.Leu3590=)
n.4698T=
c.10898T= (p.Leu3633=)
2g.73572773G>ACA427024042ALMS1c.10515G>A (p.Leu3505=)
c.3601G>A
c.7796G>A
c.4962G>A (p.Leu1654=)
c.7841G>A
c.10896G>A (p.Leu3632=)
c.1050G>A (p.Leu350=)
c.2252G>A
c.284G>A
c.1993G>A
c.4387G>A (n.4387G>A)
c.10770G>A (p.Leu3590=)
n.4699G>A
c.10899G>A (p.Leu3633=)
2g.73572773G>CCA347286058ALMS1c.10515G>C (p.Leu3505Phe)
c.3601G>C
c.7796G>C
c.4962G>C (p.Leu1654Phe)
c.7841G>C
c.10896G>C (p.Leu3632Phe)
c.1050G>C (p.Leu350Phe)
c.2252G>C
c.284G>C
c.1993G>C
c.4387G>C (n.4387G>C)
c.10770G>C (p.Leu3590Phe)
n.4699G>C
c.10899G>C (p.Leu3633Phe)
2g.73572773G>TCA347286059ALMS1c.10515G>T (p.Leu3505Phe)
c.3601G>T
c.7796G>T
c.4962G>T (p.Leu1654Phe)
c.7841G>T
c.10896G>T (p.Leu3632Phe)
c.1050G>T (p.Leu350Phe)
c.2252G>T
c.284G>T
c.1993G>T
c.4387G>T (n.4387G>T)
c.10770G>T (p.Leu3590Phe)
n.4699G>T
c.10899G>T (p.Leu3633Phe)
2g.73572774G>ACA1715087ALMS1c.10516G>A (p.Ala3506Thr)
c.3602G>A
c.7797G>A
c.4963G>A (p.Ala1655Thr)
c.7842G>A
c.10897G>A (p.Ala3633Thr)
c.1051G>A (p.Ala351Thr)
c.2253G>A
c.285G>A
c.1994G>A
c.4388G>A (n.4388G>A)
c.10771G>A (p.Ala3591Thr)
n.4700G>A
c.10900G>A (p.Ala3634Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572774G>CCA347286063ALMS1c.10516G>C (p.Ala3506Pro)
c.3602G>C
c.7797G>C
c.4963G>C (p.Ala1655Pro)
c.7842G>C
c.10897G>C (p.Ala3633Pro)
c.1051G>C (p.Ala351Pro)
c.2253G>C
c.285G>C
c.1994G>C
c.4388G>C (n.4388G>C)
c.10771G>C (p.Ala3591Pro)
n.4700G>C
c.10900G>C (p.Ala3634Pro)
2g.73572774G=CA1261021907ALMS1c.10516G= (p.Ala3506=)
c.3602G=
c.7797G=
c.4963G= (p.Ala1655=)
c.7842G=
c.10897G= (p.Ala3633=)
c.1051G= (p.Ala351=)
c.2253G=
c.285G=
c.1994G=
c.4388G= (n.4388G=)
c.10771G= (p.Ala3591=)
n.4700G=
c.10900G= (p.Ala3634=)
2g.73572774G>TCA347286065ALMS1c.10516G>T (p.Ala3506Ser)
c.3602G>T
c.7797G>T
c.4963G>T (p.Ala1655Ser)
c.7842G>T
c.10897G>T (p.Ala3633Ser)
c.1051G>T (p.Ala351Ser)
c.2253G>T
c.285G>T
c.1994G>T
c.4388G>T (n.4388G>T)
c.10771G>T (p.Ala3591Ser)
n.4700G>T
c.10900G>T (p.Ala3634Ser)
 gnomAD v4
2g.73572775C>ACA347286067ALMS1c.10517C>A (p.Ala3506Asp)
c.3603C>A
c.7798C>A
c.4964C>A (p.Ala1655Asp)
c.7843C>A
c.10898C>A (p.Ala3633Asp)
c.1052C>A (p.Ala351Asp)
c.2254C>A
c.286C>A
c.1995C>A
c.4389C>A (n.4389C>A)
c.10772C>A (p.Ala3591Asp)
n.4701C>A
c.10901C>A (p.Ala3634Asp)
2g.73572775C>GCA347286069ALMS1c.10517C>G (p.Ala3506Gly)
c.3603C>G
c.7798C>G
c.4964C>G (p.Ala1655Gly)
c.7843C>G
c.10898C>G (p.Ala3633Gly)
c.1052C>G (p.Ala351Gly)
c.2254C>G
c.286C>G
c.1995C>G
c.4389C>G (n.4389C>G)
c.10772C>G (p.Ala3591Gly)
n.4701C>G
c.10901C>G (p.Ala3634Gly)
2g.73572775C>TCA347286070ALMS1c.10517C>T (p.Ala3506Val)
c.3603C>T
c.7798C>T
c.4964C>T (p.Ala1655Val)
c.7843C>T
c.10898C>T (p.Ala3633Val)
c.1052C>T (p.Ala351Val)
c.2254C>T
c.286C>T
c.1995C>T
c.4389C>T (n.4389C>T)
c.10772C>T (p.Ala3591Val)
n.4701C>T
c.10901C>T (p.Ala3634Val)
2g.73572776T>ACA427024049ALMS1c.10518T>A (p.Ala3506=)
c.3604T>A
c.7799T>A
c.4965T>A (p.Ala1655=)
c.7844T>A
c.10899T>A (p.Ala3633=)
c.1053T>A (p.Ala351=)
c.2255T>A
c.287T>A
c.1996T>A
c.4390T>A (n.4390T>A)
c.10773T>A (p.Ala3591=)
n.4702T>A
c.10902T>A (p.Ala3634=)
2g.73572776T>CCA427024050ALMS1c.10518T>C (p.Ala3506=)
c.3604T>C
c.7799T>C
c.4965T>C (p.Ala1655=)
c.7844T>C
c.10899T>C (p.Ala3633=)
c.1053T>C (p.Ala351=)
c.2255T>C
c.287T>C
c.1996T>C
c.4390T>C (n.4390T>C)
c.10773T>C (p.Ala3591=)
n.4702T>C
c.10902T>C (p.Ala3634=)
2g.73572776T>GCA427024052ALMS1c.10518T>G (p.Ala3506=)
c.3604T>G
c.7799T>G
c.4965T>G (p.Ala1655=)
c.7844T>G
c.10899T>G (p.Ala3633=)
c.1053T>G (p.Ala351=)
c.2255T>G
c.287T>G
c.1996T>G
c.4390T>G (n.4390T>G)
c.10773T>G (p.Ala3591=)
n.4702T>G
c.10902T>G (p.Ala3634=)
2g.73572777A>CCA347286073ALMS1c.10519A>C (p.Lys3507Gln)
c.3605A>C
c.7800A>C
c.4966A>C (p.Lys1656Gln)
c.7845A>C
c.10900A>C (p.Lys3634Gln)
c.1054A>C (p.Lys352Gln)
c.2256A>C
c.288A>C
c.1997A>C
c.4391A>C (n.4391A>C)
c.10774A>C (p.Lys3592Gln)
n.4703A>C
c.10903A>C (p.Lys3635Gln)
2g.73572777A>GCA347286075ALMS1c.10519A>G (p.Lys3507Glu)
c.3605A>G
c.7800A>G
c.4966A>G (p.Lys1656Glu)
c.7845A>G
c.10900A>G (p.Lys3634Glu)
c.1054A>G (p.Lys352Glu)
c.2256A>G
c.288A>G
c.1997A>G
c.4391A>G (n.4391A>G)
c.10774A>G (p.Lys3592Glu)
n.4703A>G
c.10903A>G (p.Lys3635Glu)
2g.73572777A>TCA347286077ALMS1c.10519A>T (p.Lys3507Ter)
c.3605A>T
c.7800A>T
c.4966A>T (p.Lys1656Ter)
c.7845A>T
c.10900A>T (p.Lys3634Ter)
c.1054A>T (p.Lys352Ter)
c.2256A>T
c.288A>T
c.1997A>T
c.4391A>T (n.4391A>T)
c.10774A>T (p.Lys3592Ter)
n.4703A>T
c.10903A>T (p.Lys3635Ter)
2g.73572778A>CCA347286079ALMS1c.10520A>C (p.Lys3507Thr)
c.3606A>C
c.7801A>C
c.4967A>C (p.Lys1656Thr)
c.7846A>C
c.10901A>C (p.Lys3634Thr)
c.1055A>C (p.Lys352Thr)
c.2257A>C
c.289A>C
c.1998A>C
c.4392A>C (n.4392A>C)
c.10775A>C (p.Lys3592Thr)
n.4704A>C
c.10904A>C (p.Lys3635Thr)
2g.73572778A>GCA347286081ALMS1c.10520A>G (p.Lys3507Arg)
c.3606A>G
c.7801A>G
c.4967A>G (p.Lys1656Arg)
c.7846A>G
c.10901A>G (p.Lys3634Arg)
c.1055A>G (p.Lys352Arg)
c.2257A>G
c.289A>G
c.1998A>G
c.4392A>G (n.4392A>G)
c.10775A>G (p.Lys3592Arg)
n.4704A>G
c.10904A>G (p.Lys3635Arg)
2g.73572778A>TCA347286083ALMS1c.10520A>T (p.Lys3507Ile)
c.3606A>T
c.7801A>T
c.4967A>T (p.Lys1656Ile)
c.7846A>T
c.10901A>T (p.Lys3634Ile)
c.1055A>T (p.Lys352Ile)
c.2257A>T
c.289A>T
c.1998A>T
c.4392A>T (n.4392A>T)
c.10775A>T (p.Lys3592Ile)
n.4704A>T
c.10904A>T (p.Lys3635Ile)
2g.73572779A>CCA347286085ALMS1c.10521A>C (p.Lys3507Asn)
c.3607A>C
c.7802A>C
c.4968A>C (p.Lys1656Asn)
c.7847A>C
c.10902A>C (p.Lys3634Asn)
c.1056A>C (p.Lys352Asn)
c.2258A>C
c.290A>C
c.1999A>C
c.4393A>C (n.4393A>C)
c.10776A>C (p.Lys3592Asn)
n.4705A>C
c.10905A>C (p.Lys3635Asn)
2g.73572779A>GCA427024057ALMS1c.10521A>G (p.Lys3507=)
c.3607A>G
c.7802A>G
c.4968A>G (p.Lys1656=)
c.7847A>G
c.10902A>G (p.Lys3634=)
c.1056A>G (p.Lys352=)
c.2258A>G
c.290A>G
c.1999A>G
c.4393A>G (n.4393A>G)
c.10776A>G (p.Lys3592=)
n.4705A>G
c.10905A>G (p.Lys3635=)
2g.73572779A>TCA347286086ALMS1c.10521A>T (p.Lys3507Asn)
c.3607A>T
c.7802A>T
c.4968A>T (p.Lys1656Asn)
c.7847A>T
c.10902A>T (p.Lys3634Asn)
c.1056A>T (p.Lys352Asn)
c.2258A>T
c.290A>T
c.1999A>T
c.4393A>T (n.4393A>T)
c.10776A>T (p.Lys3592Asn)
n.4705A>T
c.10905A>T (p.Lys3635Asn)
2g.73572780A=CA1261021910ALMS1c.10522A= (p.Ile3508=)
c.3608A=
c.7803A=
c.4969A= (p.Ile1657=)
c.7848A=
c.10903A= (p.Ile3635=)
c.1057A= (p.Ile353=)
c.2259A=
c.291A=
c.2000A=
c.4394A= (n.4394A=)
c.10777A= (p.Ile3593=)
n.4706A=
c.10906A= (p.Ile3636=)
2g.73572780A>CCA347286088ALMS1c.10522A>C (p.Ile3508Leu)
c.3608A>C
c.7803A>C
c.4969A>C (p.Ile1657Leu)
c.7848A>C
c.10903A>C (p.Ile3635Leu)
c.1057A>C (p.Ile353Leu)
c.2259A>C
c.291A>C
c.2000A>C
c.4394A>C (n.4394A>C)
c.10777A>C (p.Ile3593Leu)
n.4706A>C
c.10906A>C (p.Ile3636Leu)
2g.73572780A>GCA347286090ALMS1c.10522A>G (p.Ile3508Val)
c.3608A>G
c.7803A>G
c.4969A>G (p.Ile1657Val)
c.7848A>G
c.10903A>G (p.Ile3635Val)
c.1057A>G (p.Ile353Val)
c.2259A>G
c.291A>G
c.2000A>G
c.4394A>G (n.4394A>G)
c.10777A>G (p.Ile3593Val)
n.4706A>G
c.10906A>G (p.Ile3636Val)
 ClinVar dbSNP gnomAD v4
2g.73572780A>TCA347286092ALMS1c.10522A>T (p.Ile3508Phe)
c.3608A>T
c.7803A>T
c.4969A>T (p.Ile1657Phe)
c.7848A>T
c.10903A>T (p.Ile3635Phe)
c.1057A>T (p.Ile353Phe)
c.2259A>T
c.291A>T
c.2000A>T
c.4394A>T (n.4394A>T)
c.10777A>T (p.Ile3593Phe)
n.4706A>T
c.10906A>T (p.Ile3636Phe)
2g.73572781T>ACA347286094ALMS1c.10523T>A (p.Ile3508Asn)
c.3609T>A
c.7804T>A
c.4970T>A (p.Ile1657Asn)
c.7849T>A
c.10904T>A (p.Ile3635Asn)
c.1058T>A (p.Ile353Asn)
c.2260T>A
c.292T>A
c.2001T>A
c.4395T>A (n.4395T>A)
c.10778T>A (p.Ile3593Asn)
n.4707T>A
c.10907T>A (p.Ile3636Asn)
2g.73572781T>CCA347286095ALMS1c.10523T>C (p.Ile3508Thr)
c.3609T>C
c.7804T>C
c.4970T>C (p.Ile1657Thr)
c.7849T>C
c.10904T>C (p.Ile3635Thr)
c.1058T>C (p.Ile353Thr)
c.2260T>C
c.292T>C
c.2001T>C
c.4395T>C (n.4395T>C)
c.10778T>C (p.Ile3593Thr)
n.4707T>C
c.10907T>C (p.Ile3636Thr)
2g.73572781T>GCA347286097ALMS1c.10523T>G (p.Ile3508Ser)
c.3609T>G
c.7804T>G
c.4970T>G (p.Ile1657Ser)
c.7849T>G
c.10904T>G (p.Ile3635Ser)
c.1058T>G (p.Ile353Ser)
c.2260T>G
c.292T>G
c.2001T>G
c.4395T>G (n.4395T>G)
c.10778T>G (p.Ile3593Ser)
n.4707T>G
c.10907T>G (p.Ile3636Ser)
2g.73572782T>ACA427024064ALMS1c.10524T>A (p.Ile3508=)
c.3610T>A
c.7805T>A
c.4971T>A (p.Ile1657=)
c.7850T>A
c.10905T>A (p.Ile3635=)
c.1059T>A (p.Ile353=)
c.2261T>A
c.293T>A
c.2002T>A
c.4396T>A (n.4396T>A)
c.10779T>A (p.Ile3593=)
n.4708T>A
c.10908T>A (p.Ile3636=)
2g.73572782T>CCA1715088ALMS1c.10524T>C (p.Ile3508=)
c.3610T>C
c.7805T>C
c.4971T>C (p.Ile1657=)
c.7850T>C
c.10905T>C (p.Ile3635=)
c.1059T>C (p.Ile353=)
c.2261T>C
c.293T>C
c.2002T>C
c.4396T>C (n.4396T>C)
c.10779T>C (p.Ile3593=)
n.4708T>C
c.10908T>C (p.Ile3636=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572782T>GCA347286100ALMS1c.10524T>G (p.Ile3508Met)
c.3610T>G
c.7805T>G
c.4971T>G (p.Ile1657Met)
c.7850T>G
c.10905T>G (p.Ile3635Met)
c.1059T>G (p.Ile353Met)
c.2261T>G
c.293T>G
c.2002T>G
c.4396T>G (n.4396T>G)
c.10779T>G (p.Ile3593Met)
n.4708T>G
c.10908T>G (p.Ile3636Met)
2g.73572782T=CA1261021917ALMS1c.10524T= (p.Ile3508=)
c.3610T=
c.7805T=
c.4971T= (p.Ile1657=)
c.7850T=
c.10905T= (p.Ile3635=)
c.1059T= (p.Ile353=)
c.2261T=
c.293T=
c.2002T=
c.4396T= (n.4396T=)
c.10779T= (p.Ile3593=)
n.4708T=
c.10908T= (p.Ile3636=)
2g.73572782_73572797delCA2750467825ALMS1c.10524_10539del (p.Leu3509HisfsTer20)
c.3610_3625del
c.7805_7820del
c.4971_4986del (p.Leu1658HisfsTer20)
c.7850_7865del
c.10905_10920del (p.Leu3636HisfsTer20)
c.1059_1074del (p.Leu354HisfsTer20)
c.2261_2276del
c.293_308del
c.2002_2017del
c.4396_4411del (n.4396_4411del)
c.10779_10794del (p.Leu3594HisfsTer20)
n.4708_4723del
c.10908_10923del (p.Leu3637HisfsTer20)
2g.73572783C>ACA347286102ALMS1c.10525C>A (p.Leu3509Ile)
c.3611C>A
c.7806C>A
c.4972C>A (p.Leu1658Ile)
c.7851C>A
c.10906C>A (p.Leu3636Ile)
c.1060C>A (p.Leu354Ile)
c.2262C>A
c.294C>A
c.2003C>A
c.4397C>A (n.4397C>A)
c.10780C>A (p.Leu3594Ile)
n.4709C>A
c.10909C>A (p.Leu3637Ile)
 ClinVar dbSNP gnomAD v4
2g.73572783C=CA1261021919ALMS1c.10525C= (p.Leu3509=)
c.3611C=
c.7806C=
c.4972C= (p.Leu1658=)
c.7851C=
c.10906C= (p.Leu3636=)
c.1060C= (p.Leu354=)
c.2262C=
c.294C=
c.2003C=
c.4397C= (n.4397C=)
c.10780C= (p.Leu3594=)
n.4709C=
c.10909C= (p.Leu3637=)
2g.73572783C>GCA347286104ALMS1c.10525C>G (p.Leu3509Val)
c.3611C>G
c.7806C>G
c.4972C>G (p.Leu1658Val)
c.7851C>G
c.10906C>G (p.Leu3636Val)
c.1060C>G (p.Leu354Val)
c.2262C>G
c.294C>G
c.2003C>G
c.4397C>G (n.4397C>G)
c.10780C>G (p.Leu3594Val)
n.4709C>G
c.10909C>G (p.Leu3637Val)
2g.73572783C>TCA347286105ALMS1c.10525C>T (p.Leu3509Phe)
c.3611C>T
c.7806C>T
c.4972C>T (p.Leu1658Phe)
c.7851C>T
c.10906C>T (p.Leu3636Phe)
c.1060C>T (p.Leu354Phe)
c.2262C>T
c.294C>T
c.2003C>T
c.4397C>T (n.4397C>T)
c.10780C>T (p.Leu3594Phe)
n.4709C>T
c.10909C>T (p.Leu3637Phe)
2g.73572784T>ACA347286107ALMS1c.10526T>A (p.Leu3509His)
c.3612T>A
c.7807T>A
c.4973T>A (p.Leu1658His)
c.7852T>A
c.10907T>A (p.Leu3636His)
c.1061T>A (p.Leu354His)
c.2263T>A
c.295T>A
c.2004T>A
c.4398T>A (n.4398T>A)
c.10781T>A (p.Leu3594His)
n.4710T>A
c.10910T>A (p.Leu3637His)
2g.73572784T>CCA347286109ALMS1c.10526T>C (p.Leu3509Pro)
c.3612T>C
c.7807T>C
c.4973T>C (p.Leu1658Pro)
c.7852T>C
c.10907T>C (p.Leu3636Pro)
c.1061T>C (p.Leu354Pro)
c.2263T>C
c.295T>C
c.2004T>C
c.4398T>C (n.4398T>C)
c.10781T>C (p.Leu3594Pro)
n.4710T>C
c.10910T>C (p.Leu3637Pro)
 ClinVar dbSNP
2g.73572784T>GCA347286111ALMS1c.10526T>G (p.Leu3509Arg)
c.3612T>G
c.7807T>G
c.4973T>G (p.Leu1658Arg)
c.7852T>G
c.10907T>G (p.Leu3636Arg)
c.1061T>G (p.Leu354Arg)
c.2263T>G
c.295T>G
c.2004T>G
c.4398T>G (n.4398T>G)
c.10781T>G (p.Leu3594Arg)
n.4710T>G
c.10910T>G (p.Leu3637Arg)
2g.73572785T>ACA427024065ALMS1c.10527T>A (p.Leu3509=)
c.3613T>A
c.7808T>A
c.4974T>A (p.Leu1658=)
c.7853T>A
c.10908T>A (p.Leu3636=)
c.1062T>A (p.Leu354=)
c.2264T>A
c.296T>A
c.2005T>A
c.4399T>A (n.4399T>A)
c.10782T>A (p.Leu3594=)
n.4711T>A
c.10911T>A (p.Leu3637=)
2g.73572785T>CCA427024066ALMS1c.10527T>C (p.Leu3509=)
c.3613T>C
c.7808T>C
c.4974T>C (p.Leu1658=)
c.7853T>C
c.10908T>C (p.Leu3636=)
c.1062T>C (p.Leu354=)
c.2264T>C
c.296T>C
c.2005T>C
c.4399T>C (n.4399T>C)
c.10782T>C (p.Leu3594=)
n.4711T>C
c.10911T>C (p.Leu3637=)
2g.73572785T>GCA427024067ALMS1c.10527T>G (p.Leu3509=)
c.3613T>G
c.7808T>G
c.4974T>G (p.Leu1658=)
c.7853T>G
c.10908T>G (p.Leu3636=)
c.1062T>G (p.Leu354=)
c.2264T>G
c.296T>G
c.2005T>G
c.4399T>G (n.4399T>G)
c.10782T>G (p.Leu3594=)
n.4711T>G
c.10911T>G (p.Leu3637=)
2g.73572786C>ACA347286117ALMS1c.10528C>A (p.Gln3510Lys)
c.3614C>A
c.7809C>A
c.4975C>A (p.Gln1659Lys)
c.7854C>A
c.10909C>A (p.Gln3637Lys)
c.1063C>A (p.Gln355Lys)
c.2265C>A
c.297C>A
c.2006C>A
c.4400C>A (n.4400C>A)
c.10783C>A (p.Gln3595Lys)
n.4712C>A
c.10912C>A (p.Gln3638Lys)
 gnomAD v4
2g.73572786C=CA1261021922ALMS1c.10528C= (p.Gln3510=)
c.3614C=
c.7809C=
c.4975C= (p.Gln1659=)
c.7854C=
c.10909C= (p.Gln3637=)
c.1063C= (p.Gln355=)
c.2265C=
c.297C=
c.2006C=
c.4400C= (n.4400C=)
c.10783C= (p.Gln3595=)
n.4712C=
c.10912C= (p.Gln3638=)
2g.73572786C>GCA1715089ALMS1c.10528C>G (p.Gln3510Glu)
c.3614C>G
c.7809C>G
c.4975C>G (p.Gln1659Glu)
c.7854C>G
c.10909C>G (p.Gln3637Glu)
c.1063C>G (p.Gln355Glu)
c.2265C>G
c.297C>G
c.2006C>G
c.4400C>G (n.4400C>G)
c.10783C>G (p.Gln3595Glu)
n.4712C>G
c.10912C>G (p.Gln3638Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572786C>TCA347286114ALMS1c.10528C>T (p.Gln3510Ter)
c.3614C>T
c.7809C>T
c.4975C>T (p.Gln1659Ter)
c.7854C>T
c.10909C>T (p.Gln3637Ter)
c.1063C>T (p.Gln355Ter)
c.2265C>T
c.297C>T
c.2006C>T
c.4400C>T (n.4400C>T)
c.10783C>T (p.Gln3595Ter)
n.4712C>T
c.10912C>T (p.Gln3638Ter)
 ClinVar
2g.73572787A=CA1261021930ALMS1c.10529A= (p.Gln3510=)
c.3615A=
c.7810A=
c.4976A= (p.Gln1659=)
c.7855A=
c.10910A= (p.Gln3637=)
c.1064A= (p.Gln355=)
c.2266A=
c.298A=
c.2007A=
c.4401A= (n.4401A=)
c.10784A= (p.Gln3595=)
n.4713A=
c.10913A= (p.Gln3638=)
2g.73572787A>CCA347286122ALMS1c.10529A>C (p.Gln3510Pro)
c.3615A>C
c.7810A>C
c.4976A>C (p.Gln1659Pro)
c.7855A>C
c.10910A>C (p.Gln3637Pro)
c.1064A>C (p.Gln355Pro)
c.2266A>C
c.298A>C
c.2007A>C
c.4401A>C (n.4401A>C)
c.10784A>C (p.Gln3595Pro)
n.4713A>C
c.10913A>C (p.Gln3638Pro)
2g.73572787A>GCA347286128ALMS1c.10529A>G (p.Gln3510Arg)
c.3615A>G
c.7810A>G
c.4976A>G (p.Gln1659Arg)
c.7855A>G
c.10910A>G (p.Gln3637Arg)
c.1064A>G (p.Gln355Arg)
c.2266A>G
c.298A>G
c.2007A>G
c.4401A>G (n.4401A>G)
c.10784A>G (p.Gln3595Arg)
n.4713A>G
c.10913A>G (p.Gln3638Arg)
 dbSNP
2g.73572787A>TCA347286125ALMS1c.10529A>T (p.Gln3510Leu)
c.3615A>T
c.7810A>T
c.4976A>T (p.Gln1659Leu)
c.7855A>T
c.10910A>T (p.Gln3637Leu)
c.1064A>T (p.Gln355Leu)
c.2266A>T
c.298A>T
c.2007A>T
c.4401A>T (n.4401A>T)
c.10784A>T (p.Gln3595Leu)
n.4713A>T
c.10913A>T (p.Gln3638Leu)
2g.73572788G>ACA427024072ALMS1c.10530G>A (p.Gln3510=)
c.3616G>A
c.7811G>A
c.4977G>A (p.Gln1659=)
c.7856G>A
c.10911G>A (p.Gln3637=)
c.1065G>A (p.Gln355=)
c.2267G>A
c.299G>A
c.2008G>A
c.4402G>A (n.4402G>A)
c.10785G>A (p.Gln3595=)
n.4714G>A
c.10914G>A (p.Gln3638=)
2g.73572788G>CCA347286131ALMS1c.10530G>C (p.Gln3510His)
c.3616G>C
c.7811G>C
c.4977G>C (p.Gln1659His)
c.7856G>C
c.10911G>C (p.Gln3637His)
c.1065G>C (p.Gln355His)
c.2267G>C
c.299G>C
c.2008G>C
c.4402G>C (n.4402G>C)
c.10785G>C (p.Gln3595His)
n.4714G>C
c.10914G>C (p.Gln3638His)
2g.73572788G>TCA347286134ALMS1c.10530G>T (p.Gln3510His)
c.3616G>T
c.7811G>T
c.4977G>T (p.Gln1659His)
c.7856G>T
c.10911G>T (p.Gln3637His)
c.1065G>T (p.Gln355His)
c.2267G>T
c.299G>T
c.2008G>T
c.4402G>T (n.4402G>T)
c.10785G>T (p.Gln3595His)
n.4714G>T
c.10914G>T (p.Gln3638His)
2g.73572789A>CCA347286138ALMS1c.10531A>C (p.Asn3511His)
c.3617A>C
c.7812A>C
c.4978A>C (p.Asn1660His)
c.7857A>C
c.10912A>C (p.Asn3638His)
c.1066A>C (p.Asn356His)
c.2268A>C
c.300A>C
c.2009A>C
c.4403A>C (n.4403A>C)
c.10786A>C (p.Asn3596His)
n.4715A>C
c.10915A>C (p.Asn3639His)
2g.73572789A>GCA347286141ALMS1c.10531A>G (p.Asn3511Asp)
c.3617A>G
c.7812A>G
c.4978A>G (p.Asn1660Asp)
c.7857A>G
c.10912A>G (p.Asn3638Asp)
c.1066A>G (p.Asn356Asp)
c.2268A>G
c.300A>G
c.2009A>G
c.4403A>G (n.4403A>G)
c.10786A>G (p.Asn3596Asp)
n.4715A>G
c.10915A>G (p.Asn3639Asp)
2g.73572789A>TCA347286144ALMS1c.10531A>T (p.Asn3511Tyr)
c.3617A>T
c.7812A>T
c.4978A>T (p.Asn1660Tyr)
c.7857A>T
c.10912A>T (p.Asn3638Tyr)
c.1066A>T (p.Asn356Tyr)
c.2268A>T
c.300A>T
c.2009A>T
c.4403A>T (n.4403A>T)
c.10786A>T (p.Asn3596Tyr)
n.4715A>T
c.10915A>T (p.Asn3639Tyr)
2g.73572790A>CCA347286148ALMS1c.10532A>C (p.Asn3511Thr)
c.3618A>C
c.7813A>C
c.4979A>C (p.Asn1660Thr)
c.7858A>C
c.10913A>C (p.Asn3638Thr)
c.1067A>C (p.Asn356Thr)
c.2269A>C
c.301A>C
c.2010A>C
c.4404A>C (n.4404A>C)
c.10787A>C (p.Asn3596Thr)
n.4716A>C
c.10916A>C (p.Asn3639Thr)
2g.73572790A>GCA347286149ALMS1c.10532A>G (p.Asn3511Ser)
c.3618A>G
c.7813A>G
c.4979A>G (p.Asn1660Ser)
c.7858A>G
c.10913A>G (p.Asn3638Ser)
c.1067A>G (p.Asn356Ser)
c.2269A>G
c.301A>G
c.2010A>G
c.4404A>G (n.4404A>G)
c.10787A>G (p.Asn3596Ser)
n.4716A>G
c.10916A>G (p.Asn3639Ser)
2g.73572790A>TCA347286153ALMS1c.10532A>T (p.Asn3511Ile)
c.3618A>T
c.7813A>T
c.4979A>T (p.Asn1660Ile)
c.7858A>T
c.10913A>T (p.Asn3638Ile)
c.1067A>T (p.Asn356Ile)
c.2269A>T
c.301A>T
c.2010A>T
c.4404A>T (n.4404A>T)
c.10787A>T (p.Asn3596Ile)
n.4716A>T
c.10916A>T (p.Asn3639Ile)
 gnomAD v4
2g.73572791T>ACA347286157ALMS1c.10533T>A (p.Asn3511Lys)
c.3619T>A
c.7814T>A
c.4980T>A (p.Asn1660Lys)
c.7859T>A
c.10914T>A (p.Asn3638Lys)
c.1068T>A (p.Asn356Lys)
c.2270T>A
c.302T>A
c.2011T>A
c.4405T>A (n.4405T>A)
c.10788T>A (p.Asn3596Lys)
n.4717T>A
c.10917T>A (p.Asn3639Lys)
2g.73572791T>CCA427024079ALMS1c.10533T>C (p.Asn3511=)
c.3619T>C
c.7814T>C
c.4980T>C (p.Asn1660=)
c.7859T>C
c.10914T>C (p.Asn3638=)
c.1068T>C (p.Asn356=)
c.2270T>C
c.302T>C
c.2011T>C
c.4405T>C (n.4405T>C)
c.10788T>C (p.Asn3596=)
n.4717T>C
c.10917T>C (p.Asn3639=)
 ClinVar dbSNP
2g.73572791T>GCA347286159ALMS1c.10533T>G (p.Asn3511Lys)
c.3619T>G
c.7814T>G
c.4980T>G (p.Asn1660Lys)
c.7859T>G
c.10914T>G (p.Asn3638Lys)
c.1068T>G (p.Asn356Lys)
c.2270T>G
c.302T>G
c.2011T>G
c.4405T>G (n.4405T>G)
c.10788T>G (p.Asn3596Lys)
n.4717T>G
c.10917T>G (p.Asn3639Lys)
2g.73572792C>ACA347286162ALMS1c.10534C>A (p.Pro3512Thr)
c.3620C>A
c.7815C>A
c.4981C>A (p.Pro1661Thr)
c.7860C>A
c.10915C>A (p.Pro3639Thr)
c.1069C>A (p.Pro357Thr)
c.2271C>A
c.303C>A
c.2012C>A
c.4406C>A (n.4406C>A)
c.10789C>A (p.Pro3597Thr)
n.4718C>A
c.10918C>A (p.Pro3640Thr)
2g.73572792C=CA1261021936ALMS1c.10534C= (p.Pro3512=)
c.3620C=
c.7815C=
c.4981C= (p.Pro1661=)
c.7860C=
c.10915C= (p.Pro3639=)
c.1069C= (p.Pro357=)
c.2271C=
c.303C=
c.2012C=
c.4406C= (n.4406C=)
c.10789C= (p.Pro3597=)
n.4718C=
c.10918C= (p.Pro3640=)
2g.73572792C>GCA1715090ALMS1c.10534C>G (p.Pro3512Ala)
c.3620C>G
c.7815C>G
c.4981C>G (p.Pro1661Ala)
c.7860C>G
c.10915C>G (p.Pro3639Ala)
c.1069C>G (p.Pro357Ala)
c.2271C>G
c.303C>G
c.2012C>G
c.4406C>G (n.4406C>G)
c.10789C>G (p.Pro3597Ala)
n.4718C>G
c.10918C>G (p.Pro3640Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572792C>TCA347286165ALMS1c.10534C>T (p.Pro3512Ser)
c.3620C>T
c.7815C>T
c.4981C>T (p.Pro1661Ser)
c.7860C>T
c.10915C>T (p.Pro3639Ser)
c.1069C>T (p.Pro357Ser)
c.2271C>T
c.303C>T
c.2012C>T
c.4406C>T (n.4406C>T)
c.10789C>T (p.Pro3597Ser)
n.4718C>T
c.10918C>T (p.Pro3640Ser)
2g.73572793C>ACA347286176ALMS1c.10535C>A (p.Pro3512Gln)
c.3621C>A
c.7816C>A
c.4982C>A (p.Pro1661Gln)
c.7861C>A
c.10916C>A (p.Pro3639Gln)
c.1070C>A (p.Pro357Gln)
c.2272C>A
c.304C>A
c.2013C>A
c.4407C>A (n.4407C>A)
c.10790C>A (p.Pro3597Gln)
n.4719C>A
c.10919C>A (p.Pro3640Gln)
2g.73572793C>GCA347286173ALMS1c.10535C>G (p.Pro3512Arg)
c.3621C>G
c.7816C>G
c.4982C>G (p.Pro1661Arg)
c.7861C>G
c.10916C>G (p.Pro3639Arg)
c.1070C>G (p.Pro357Arg)
c.2272C>G
c.304C>G
c.2013C>G
c.4407C>G (n.4407C>G)
c.10790C>G (p.Pro3597Arg)
n.4719C>G
c.10919C>G (p.Pro3640Arg)
2g.73572793C>TCA347286169ALMS1c.10535C>T (p.Pro3512Leu)
c.3621C>T
c.7816C>T
c.4982C>T (p.Pro1661Leu)
c.7861C>T
c.10916C>T (p.Pro3639Leu)
c.1070C>T (p.Pro357Leu)
c.2272C>T
c.304C>T
c.2013C>T
c.4407C>T (n.4407C>T)
c.10790C>T (p.Pro3597Leu)
n.4719C>T
c.10919C>T (p.Pro3640Leu)
 ClinVar gnomAD v4
2g.73572794A>CCA427024083ALMS1c.10536A>C (p.Pro3512=)
c.3622A>C
c.7817A>C
c.4983A>C (p.Pro1661=)
c.7862A>C
c.10917A>C (p.Pro3639=)
c.1071A>C (p.Pro357=)
c.2273A>C
c.305A>C
c.2014A>C
c.4408A>C (n.4408A>C)
c.10791A>C (p.Pro3597=)
n.4720A>C
c.10920A>C (p.Pro3640=)
2g.73572794A>GCA427024086ALMS1c.10536A>G (p.Pro3512=)
c.3622A>G
c.7817A>G
c.4983A>G (p.Pro1661=)
c.7862A>G
c.10917A>G (p.Pro3639=)
c.1071A>G (p.Pro357=)
c.2273A>G
c.305A>G
c.2014A>G
c.4408A>G (n.4408A>G)
c.10791A>G (p.Pro3597=)
n.4720A>G
c.10920A>G (p.Pro3640=)
 gnomAD v4
2g.73572794A>TCA427024084ALMS1c.10536A>T (p.Pro3512=)
c.3622A>T
c.7817A>T
c.4983A>T (p.Pro1661=)
c.7862A>T
c.10917A>T (p.Pro3639=)
c.1071A>T (p.Pro357=)
c.2273A>T
c.305A>T
c.2014A>T
c.4408A>T (n.4408A>T)
c.10791A>T (p.Pro3597=)
n.4720A>T
c.10920A>T (p.Pro3640=)
2g.73572795A>CCA347286181ALMS1c.10537A>C (p.Ile3513Leu)
c.3623A>C
c.7818A>C
c.4984A>C (p.Ile1662Leu)
c.7863A>C
c.10918A>C (p.Ile3640Leu)
c.1072A>C (p.Ile358Leu)
c.2274A>C
c.306A>C
c.2015A>C
c.4409A>C (n.4409A>C)
c.10792A>C (p.Ile3598Leu)
n.4721A>C
c.10921A>C (p.Ile3641Leu)
2g.73572795A>GCA347286183ALMS1c.10537A>G (p.Ile3513Val)
c.3623A>G
c.7818A>G
c.4984A>G (p.Ile1662Val)
c.7863A>G
c.10918A>G (p.Ile3640Val)
c.1072A>G (p.Ile358Val)
c.2274A>G
c.306A>G
c.2015A>G
c.4409A>G (n.4409A>G)
c.10792A>G (p.Ile3598Val)
n.4721A>G
c.10921A>G (p.Ile3641Val)
 ClinVar
2g.73572795A>TCA347286186ALMS1c.10537A>T (p.Ile3513Phe)
c.3623A>T
c.7818A>T
c.4984A>T (p.Ile1662Phe)
c.7863A>T
c.10918A>T (p.Ile3640Phe)
c.1072A>T (p.Ile358Phe)
c.2274A>T
c.306A>T
c.2015A>T
c.4409A>T (n.4409A>T)
c.10792A>T (p.Ile3598Phe)
n.4721A>T
c.10921A>T (p.Ile3641Phe)
2g.73572796T>ACA347286190ALMS1c.10538T>A (p.Ile3513Asn)
c.3624T>A
c.7819T>A
c.4985T>A (p.Ile1662Asn)
c.7864T>A
c.10919T>A (p.Ile3640Asn)
c.1073T>A (p.Ile358Asn)
c.2275T>A
c.307T>A
c.2016T>A
c.4410T>A (n.4410T>A)
c.10793T>A (p.Ile3598Asn)
n.4722T>A
c.10922T>A (p.Ile3641Asn)
2g.73572796T>CCA347286193ALMS1c.10538T>C (p.Ile3513Thr)
c.3624T>C
c.7819T>C
c.4985T>C (p.Ile1662Thr)
c.7864T>C
c.10919T>C (p.Ile3640Thr)
c.1073T>C (p.Ile358Thr)
c.2275T>C
c.307T>C
c.2016T>C
c.4410T>C (n.4410T>C)
c.10793T>C (p.Ile3598Thr)
n.4722T>C
c.10922T>C (p.Ile3641Thr)
2g.73572796T>GCA347286196ALMS1c.10538T>G (p.Ile3513Ser)
c.3624T>G
c.7819T>G
c.4985T>G (p.Ile1662Ser)
c.7864T>G
c.10919T>G (p.Ile3640Ser)
c.1073T>G (p.Ile358Ser)
c.2275T>G
c.307T>G
c.2016T>G
c.4410T>G (n.4410T>G)
c.10793T>G (p.Ile3598Ser)
n.4722T>G
c.10922T>G (p.Ile3641Ser)
2g.73572797C>ACA427024092ALMS1c.10539C>A (p.Ile3513=)
c.3625C>A
c.7820C>A
c.4986C>A (p.Ile1662=)
c.7865C>A
c.10920C>A (p.Ile3640=)
c.1074C>A (p.Ile358=)
c.2276C>A
c.308C>A
c.2017C>A
c.4411C>A (n.4411C>A)
c.10794C>A (p.Ile3598=)
n.4723C>A
c.10923C>A (p.Ile3641=)
2g.73572797C=CA1261021939ALMS1c.10539C= (p.Ile3513=)
c.3625C=
c.7820C=
c.4986C= (p.Ile1662=)
c.7865C=
c.10920C= (p.Ile3640=)
c.1074C= (p.Ile358=)
c.2276C=
c.308C=
c.2017C=
c.4411C= (n.4411C=)
c.10794C= (p.Ile3598=)
n.4723C=
c.10923C= (p.Ile3641=)
2g.73572797C>GCA347286199ALMS1c.10539C>G (p.Ile3513Met)
c.3625C>G
c.7820C>G
c.4986C>G (p.Ile1662Met)
c.7865C>G
c.10920C>G (p.Ile3640Met)
c.1074C>G (p.Ile358Met)
c.2276C>G
c.308C>G
c.2017C>G
c.4411C>G (n.4411C>G)
c.10794C>G (p.Ile3598Met)
n.4723C>G
c.10923C>G (p.Ile3641Met)
 dbSNP gnomAD v4
2g.73572797C>TCA427024095ALMS1c.10539C>T (p.Ile3513=)
c.3625C>T
c.7820C>T
c.4986C>T (p.Ile1662=)
c.7865C>T
c.10920C>T (p.Ile3640=)
c.1074C>T (p.Ile358=)
c.2276C>T
c.308C>T
c.2017C>T
c.4411C>T (n.4411C>T)
c.10794C>T (p.Ile3598=)
n.4723C>T
c.10923C>T (p.Ile3641=)
 gnomAD v4
2g.73572798A=CA1261021944ALMS1c.10540A= (p.Thr3514=)
c.3626A=
c.7821A=
c.4987A= (p.Thr1663=)
c.7866A=
c.10921A= (p.Thr3641=)
c.1075A= (p.Thr359=)
c.2277A=
c.309A=
c.2018A=
c.4412A= (n.4412A=)
c.10795A= (p.Thr3599=)
n.4724A=
c.10924A= (p.Thr3642=)
2g.73572798A>CCA347286202ALMS1c.10540A>C (p.Thr3514Pro)
c.3626A>C
c.7821A>C
c.4987A>C (p.Thr1663Pro)
c.7866A>C
c.10921A>C (p.Thr3641Pro)
c.1075A>C (p.Thr359Pro)
c.2277A>C
c.309A>C
c.2018A>C
c.4412A>C (n.4412A>C)
c.10795A>C (p.Thr3599Pro)
n.4724A>C
c.10924A>C (p.Thr3642Pro)
2g.73572798A>GCA347286204ALMS1c.10540A>G (p.Thr3514Ala)
c.3626A>G
c.7821A>G
c.4987A>G (p.Thr1663Ala)
c.7866A>G
c.10921A>G (p.Thr3641Ala)
c.1075A>G (p.Thr359Ala)
c.2277A>G
c.309A>G
c.2018A>G
c.4412A>G (n.4412A>G)
c.10795A>G (p.Thr3599Ala)
n.4724A>G
c.10924A>G (p.Thr3642Ala)
2g.73572798A>TCA347286206ALMS1c.10540A>T (p.Thr3514Ser)
c.3626A>T
c.7821A>T
c.4987A>T (p.Thr1663Ser)
c.7866A>T
c.10921A>T (p.Thr3641Ser)
c.1075A>T (p.Thr359Ser)
c.2277A>T
c.309A>T
c.2018A>T
c.4412A>T (n.4412A>T)
c.10795A>T (p.Thr3599Ser)
n.4724A>T
c.10924A>T (p.Thr3642Ser)
 dbSNP
2g.73572799C>ACA347286209ALMS1c.10541C>A (p.Thr3514Lys)
c.3627C>A
c.7822C>A
c.4988C>A (p.Thr1663Lys)
c.7867C>A
c.10922C>A (p.Thr3641Lys)
c.1076C>A (p.Thr359Lys)
c.2278C>A
c.310C>A
c.2019C>A
c.4413C>A (n.4413C>A)
c.10796C>A (p.Thr3599Lys)
n.4725C>A
c.10925C>A (p.Thr3642Lys)
2g.73572799C>GCA347286212ALMS1c.10541C>G (p.Thr3514Arg)
c.3627C>G
c.7822C>G
c.4988C>G (p.Thr1663Arg)
c.7867C>G
c.10922C>G (p.Thr3641Arg)
c.1076C>G (p.Thr359Arg)
c.2278C>G
c.310C>G
c.2019C>G
c.4413C>G (n.4413C>G)
c.10796C>G (p.Thr3599Arg)
n.4725C>G
c.10925C>G (p.Thr3642Arg)
2g.73572799C>TCA347286216ALMS1c.10541C>T (p.Thr3514Ile)
c.3627C>T
c.7822C>T
c.4988C>T (p.Thr1663Ile)
c.7867C>T
c.10922C>T (p.Thr3641Ile)
c.1076C>T (p.Thr359Ile)
c.2278C>T
c.310C>T
c.2019C>T
c.4413C>T (n.4413C>T)
c.10796C>T (p.Thr3599Ile)
n.4725C>T
c.10925C>T (p.Thr3642Ile)
2g.73572800A=CA1261021947ALMS1c.10542A= (p.Thr3514=)
c.3628A=
c.7823A=
c.4989A= (p.Thr1663=)
c.7868A=
c.10923A= (p.Thr3641=)
c.1077A= (p.Thr359=)
c.2279A=
c.311A=
c.2020A=
c.4414A= (n.4414A=)
c.10797A= (p.Thr3599=)
n.4726A=
c.10926A= (p.Thr3642=)
2g.73572800A>CCA427024100ALMS1c.10542A>C (p.Thr3514=)
c.3628A>C
c.7823A>C
c.4989A>C (p.Thr1663=)
c.7868A>C
c.10923A>C (p.Thr3641=)
c.1077A>C (p.Thr359=)
c.2279A>C
c.311A>C
c.2020A>C
c.4414A>C (n.4414A>C)
c.10797A>C (p.Thr3599=)
n.4726A>C
c.10926A>C (p.Thr3642=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73572800A>GCA50386542ALMS1c.10542A>G (p.Thr3514=)
c.3628A>G
c.7823A>G
c.4989A>G (p.Thr1663=)
c.7868A>G
c.10923A>G (p.Thr3641=)
c.1077A>G (p.Thr359=)
c.2279A>G
c.311A>G
c.2020A>G
c.4414A>G (n.4414A>G)
c.10797A>G (p.Thr3599=)
n.4726A>G
c.10926A>G (p.Thr3642=)
 ClinVar dbSNP gnomAD v4
2g.73572800A>TCA427024101ALMS1c.10542A>T (p.Thr3514=)
c.3628A>T
c.7823A>T
c.4989A>T (p.Thr1663=)
c.7868A>T
c.10923A>T (p.Thr3641=)
c.1077A>T (p.Thr359=)
c.2279A>T
c.311A>T
c.2020A>T
c.4414A>T (n.4414A>T)
c.10797A>T (p.Thr3599=)
n.4726A>T
c.10926A>T (p.Thr3642=)
 gnomAD v4
2g.73572801C>ACA347286232ALMS1c.10543C>A (p.His3515Asn)
c.3629C>A
c.7824C>A
c.4990C>A (p.His1664Asn)
c.7869C>A
c.10924C>A (p.His3642Asn)
c.1078C>A (p.His360Asn)
c.2280C>A
c.312C>A
c.2021C>A
c.4415C>A (n.4415C>A)
c.10798C>A (p.His3600Asn)
n.4727C>A
c.10927C>A (p.His3643Asn)
2g.73572801C>GCA347286225ALMS1c.10543C>G (p.His3515Asp)
c.3629C>G
c.7824C>G
c.4990C>G (p.His1664Asp)
c.7869C>G
c.10924C>G (p.His3642Asp)
c.1078C>G (p.His360Asp)
c.2280C>G
c.312C>G
c.2021C>G
c.4415C>G (n.4415C>G)
c.10798C>G (p.His3600Asp)
n.4727C>G
c.10927C>G (p.His3643Asp)
2g.73572801C>TCA347286229ALMS1c.10543C>T (p.His3515Tyr)
c.3629C>T
c.7824C>T
c.4990C>T (p.His1664Tyr)
c.7869C>T
c.10924C>T (p.His3642Tyr)
c.1078C>T (p.His360Tyr)
c.2280C>T
c.312C>T
c.2021C>T
c.4415C>T (n.4415C>T)
c.10798C>T (p.His3600Tyr)
n.4727C>T
c.10927C>T (p.His3643Tyr)
2g.73572802A=CA1261021949ALMS1c.10544A= (p.His3515=)
c.3630A=
c.7825A=
c.4991A= (p.His1664=)
c.7870A=
c.10925A= (p.His3642=)
c.1079A= (p.His360=)
c.2281A=
c.313A=
c.2022A=
c.4416A= (n.4416A=)
c.10799A= (p.His3600=)
n.4728A=
c.10928A= (p.His3643=)
2g.73572802A>CCA347286236ALMS1c.10544A>C (p.His3515Pro)
c.3630A>C
c.7825A>C
c.4991A>C (p.His1664Pro)
c.7870A>C
c.10925A>C (p.His3642Pro)
c.1079A>C (p.His360Pro)
c.2281A>C
c.313A>C
c.2022A>C
c.4416A>C (n.4416A>C)
c.10799A>C (p.His3600Pro)
n.4728A>C
c.10928A>C (p.His3643Pro)
2g.73572802A>GCA347286238ALMS1c.10544A>G (p.His3515Arg)
c.3630A>G
c.7825A>G
c.4991A>G (p.His1664Arg)
c.7870A>G
c.10925A>G (p.His3642Arg)
c.1079A>G (p.His360Arg)
c.2281A>G
c.313A>G
c.2022A>G
c.4416A>G (n.4416A>G)
c.10799A>G (p.His3600Arg)
n.4728A>G
c.10928A>G (p.His3643Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572802A>TCA347286241ALMS1c.10544A>T (p.His3515Leu)
c.3630A>T
c.7825A>T
c.4991A>T (p.His1664Leu)
c.7870A>T
c.10925A>T (p.His3642Leu)
c.1079A>T (p.His360Leu)
c.2281A>T
c.313A>T
c.2022A>T
c.4416A>T (n.4416A>T)
c.10799A>T (p.His3600Leu)
n.4728A>T
c.10928A>T (p.His3643Leu)
2g.73572803T>ACA347286246ALMS1c.10545T>A (p.His3515Gln)
c.3631T>A
c.7826T>A
c.4992T>A (p.His1664Gln)
c.7871T>A
c.10926T>A (p.His3642Gln)
c.1080T>A (p.His360Gln)
c.2282T>A
c.314T>A
c.2023T>A
c.4417T>A (n.4417T>A)
c.10800T>A (p.His3600Gln)
n.4729T>A
c.10929T>A (p.His3643Gln)
2g.73572803T>CCA427024110ALMS1c.10545T>C (p.His3515=)
c.3631T>C
c.7826T>C
c.4992T>C (p.His1664=)
c.7871T>C
c.10926T>C (p.His3642=)
c.1080T>C (p.His360=)
c.2282T>C
c.314T>C
c.2023T>C
c.4417T>C (n.4417T>C)
c.10800T>C (p.His3600=)
n.4729T>C
c.10929T>C (p.His3643=)
2g.73572803T>GCA347286249ALMS1c.10545T>G (p.His3515Gln)
c.3631T>G
c.7826T>G
c.4992T>G (p.His1664Gln)
c.7871T>G
c.10926T>G (p.His3642Gln)
c.1080T>G (p.His360Gln)
c.2282T>G
c.314T>G
c.2023T>G
c.4417T>G (n.4417T>G)
c.10800T>G (p.His3600Gln)
n.4729T>G
c.10929T>G (p.His3643Gln)
2g.73572804T>ACA347286253ALMS1c.10546T>A (p.Ser3516Thr)
c.3632T>A
c.7827T>A
c.4993T>A (p.Ser1665Thr)
c.7872T>A
c.10927T>A (p.Ser3643Thr)
c.1081T>A (p.Ser361Thr)
c.2283T>A
c.315T>A
c.2024T>A
c.4418T>A (n.4418T>A)
c.10801T>A (p.Ser3601Thr)
n.4730T>A
c.10930T>A (p.Ser3644Thr)
2g.73572804T>CCA347286256ALMS1c.10546T>C (p.Ser3516Pro)
c.3632T>C
c.7827T>C
c.4993T>C (p.Ser1665Pro)
c.7872T>C
c.10927T>C (p.Ser3643Pro)
c.1081T>C (p.Ser361Pro)
c.2283T>C
c.315T>C
c.2024T>C
c.4418T>C (n.4418T>C)
c.10801T>C (p.Ser3601Pro)
n.4730T>C
c.10930T>C (p.Ser3644Pro)
 gnomAD v4
2g.73572804T>GCA347286259ALMS1c.10546T>G (p.Ser3516Ala)
c.3632T>G
c.7827T>G
c.4993T>G (p.Ser1665Ala)
c.7872T>G
c.10927T>G (p.Ser3643Ala)
c.1081T>G (p.Ser361Ala)
c.2283T>G
c.315T>G
c.2024T>G
c.4418T>G (n.4418T>G)
c.10801T>G (p.Ser3601Ala)
n.4730T>G
c.10930T>G (p.Ser3644Ala)
2g.73572805C>ACA50386546ALMS1c.10547C>A (p.Ser3516Tyr)
c.3633C>A
c.7828C>A
c.4994C>A (p.Ser1665Tyr)
c.7873C>A
c.10928C>A (p.Ser3643Tyr)
c.1082C>A (p.Ser361Tyr)
c.2284C>A
c.316C>A
c.2025C>A
c.4419C>A (n.4419C>A)
c.10802C>A (p.Ser3601Tyr)
n.4731C>A
c.10931C>A (p.Ser3644Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572805C=CA1261021953ALMS1c.10547C= (p.Ser3516=)
c.3633C=
c.7828C=
c.4994C= (p.Ser1665=)
c.7873C=
c.10928C= (p.Ser3643=)
c.1082C= (p.Ser361=)
c.2284C=
c.316C=
c.2025C=
c.4419C= (n.4419C=)
c.10802C= (p.Ser3601=)
n.4731C=
c.10931C= (p.Ser3644=)
2g.73572805C>GCA347286263ALMS1c.10547C>G (p.Ser3516Cys)
c.3633C>G
c.7828C>G
c.4994C>G (p.Ser1665Cys)
c.7873C>G
c.10928C>G (p.Ser3643Cys)
c.1082C>G (p.Ser361Cys)
c.2284C>G
c.316C>G
c.2025C>G
c.4419C>G (n.4419C>G)
c.10802C>G (p.Ser3601Cys)
n.4731C>G
c.10931C>G (p.Ser3644Cys)
 ClinVar dbSNP gnomAD v4
2g.73572805C>TCA347286265ALMS1c.10547C>T (p.Ser3516Phe)
c.3633C>T
c.7828C>T
c.4994C>T (p.Ser1665Phe)
c.7873C>T
c.10928C>T (p.Ser3643Phe)
c.1082C>T (p.Ser361Phe)
c.2284C>T
c.316C>T
c.2025C>T
c.4419C>T (n.4419C>T)
c.10802C>T (p.Ser3601Phe)
n.4731C>T
c.10931C>T (p.Ser3644Phe)
2g.73572806T>ACA427024117ALMS1c.10548T>A (p.Ser3516=)
c.3634T>A
c.7829T>A
c.4995T>A (p.Ser1665=)
c.7874T>A
c.10929T>A (p.Ser3643=)
c.1083T>A (p.Ser361=)
c.2285T>A
c.317T>A
c.2026T>A
c.4420T>A (n.4420T>A)
c.10803T>A (p.Ser3601=)
n.4732T>A
c.10932T>A (p.Ser3644=)
2g.73572806T>CCA427024118ALMS1c.10548T>C (p.Ser3516=)
c.3634T>C
c.7829T>C
c.4995T>C (p.Ser1665=)
c.7874T>C
c.10929T>C (p.Ser3643=)
c.1083T>C (p.Ser361=)
c.2285T>C
c.317T>C
c.2026T>C
c.4420T>C (n.4420T>C)
c.10803T>C (p.Ser3601=)
n.4732T>C
c.10932T>C (p.Ser3644=)
 ClinVar dbSNP gnomAD v4
2g.73572806T>GCA427024119ALMS1c.10548T>G (p.Ser3516=)
c.3634T>G
c.7829T>G
c.4995T>G (p.Ser1665=)
c.7874T>G
c.10929T>G (p.Ser3643=)
c.1083T>G (p.Ser361=)
c.2285T>G
c.317T>G
c.2026T>G
c.4420T>G (n.4420T>G)
c.10803T>G (p.Ser3601=)
n.4732T>G
c.10932T>G (p.Ser3644=)
2g.73572806T=CA1261021957ALMS1c.10548T= (p.Ser3516=)
c.3634T=
c.7829T=
c.4995T= (p.Ser1665=)
c.7874T=
c.10929T= (p.Ser3643=)
c.1083T= (p.Ser361=)
c.2285T=
c.317T=
c.2026T=
c.4420T= (n.4420T=)
c.10803T= (p.Ser3601=)
n.4732T=
c.10932T= (p.Ser3644=)
2g.73572807C>ACA347286269ALMS1c.10549C>A (p.Leu3517Ile)
c.3635C>A
c.7830C>A
c.4996C>A (p.Leu1666Ile)
c.7875C>A
c.10930C>A (p.Leu3644Ile)
c.1084C>A (p.Leu362Ile)
c.2286C>A
c.318C>A
c.2027C>A
c.4421C>A (n.4421C>A)
c.10804C>A (p.Leu3602Ile)
n.4733C>A
c.10933C>A (p.Leu3645Ile)
2g.73572807C=CA1261021964ALMS1c.10549C= (p.Leu3517=)
c.3635C=
c.7830C=
c.4996C= (p.Leu1666=)
c.7875C=
c.10930C= (p.Leu3644=)
c.1084C= (p.Leu362=)
c.2286C=
c.318C=
c.2027C=
c.4421C= (n.4421C=)
c.10804C= (p.Leu3602=)
n.4733C=
c.10933C= (p.Leu3645=)
2g.73572807C>GCA16611225ALMS1c.10549C>G (p.Leu3517Val)
c.3635C>G
c.7830C>G
c.4996C>G (p.Leu1666Val)
c.7875C>G
c.10930C>G (p.Leu3644Val)
c.1084C>G (p.Leu362Val)
c.2286C>G
c.318C>G
c.2027C>G
c.4421C>G (n.4421C>G)
c.10804C>G (p.Leu3602Val)
n.4733C>G
c.10933C>G (p.Leu3645Val)
 ClinVar dbSNP
2g.73572807C>TCA347286267ALMS1c.10549C>T (p.Leu3517Phe)
c.3635C>T
c.7830C>T
c.4996C>T (p.Leu1666Phe)
c.7875C>T
c.10930C>T (p.Leu3644Phe)
c.1084C>T (p.Leu362Phe)
c.2286C>T
c.318C>T
c.2027C>T
c.4421C>T (n.4421C>T)
c.10804C>T (p.Leu3602Phe)
n.4733C>T
c.10933C>T (p.Leu3645Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572808T>ACA347286271ALMS1c.10550T>A (p.Leu3517His)
c.3636T>A
c.7831T>A
c.4997T>A (p.Leu1666His)
c.7876T>A
c.10931T>A (p.Leu3644His)
c.1085T>A (p.Leu362His)
c.2287T>A
c.319T>A
c.2028T>A
c.4422T>A (n.4422T>A)
c.10805T>A (p.Leu3602His)
n.4734T>A
c.10934T>A (p.Leu3645His)
2g.73572808T>CCA347286272ALMS1c.10550T>C (p.Leu3517Pro)
c.3636T>C
c.7831T>C
c.4997T>C (p.Leu1666Pro)
c.7876T>C
c.10931T>C (p.Leu3644Pro)
c.1085T>C (p.Leu362Pro)
c.2287T>C
c.319T>C
c.2028T>C
c.4422T>C (n.4422T>C)
c.10805T>C (p.Leu3602Pro)
n.4734T>C
c.10934T>C (p.Leu3645Pro)
2g.73572808T>GCA347286274ALMS1c.10550T>G (p.Leu3517Arg)
c.3636T>G
c.7831T>G
c.4997T>G (p.Leu1666Arg)
c.7876T>G
c.10931T>G (p.Leu3644Arg)
c.1085T>G (p.Leu362Arg)
c.2287T>G
c.319T>G
c.2028T>G
c.4422T>G (n.4422T>G)
c.10805T>G (p.Leu3602Arg)
n.4734T>G
c.10934T>G (p.Leu3645Arg)
2g.73572808dupCA2659617242ALMS1c.10550dup (p.Gln3518ProfsTer8)
c.3636dup
c.7831dup
c.4997dup (p.Gln1667ProfsTer8)
c.7876dup
c.10931dup (p.Gln3645ProfsTer8)
c.1085dup (p.Gln363ProfsTer8)
c.2287dup
c.319dup
c.2028dup
c.4422dup (n.4422dup)
c.10805dup (p.Gln3603ProfsTer8)
n.4734dup
c.10934dup (p.Gln3646ProfsTer8)
 gnomAD v4
2g.73572809C>ACA427024122ALMS1c.10551C>A (p.Leu3517=)
c.3637C>A
c.7832C>A
c.4998C>A (p.Leu1666=)
c.7877C>A
c.10932C>A (p.Leu3644=)
c.1086C>A (p.Leu362=)
c.2288C>A
c.320C>A
c.2029C>A
c.4423C>A (n.4423C>A)
c.10806C>A (p.Leu3602=)
n.4735C>A
c.10935C>A (p.Leu3645=)
 ClinVar dbSNP
2g.73572809C=CA1261021966ALMS1c.10551C= (p.Leu3517=)
c.3637C=
c.7832C=
c.4998C= (p.Leu1666=)
c.7877C=
c.10932C= (p.Leu3644=)
c.1086C= (p.Leu362=)
c.2288C=
c.320C=
c.2029C=
c.4423C= (n.4423C=)
c.10806C= (p.Leu3602=)
n.4735C=
c.10935C= (p.Leu3645=)
2g.73572809C>GCA427024123ALMS1c.10551C>G (p.Leu3517=)
c.3637C>G
c.7832C>G
c.4998C>G (p.Leu1666=)
c.7877C>G
c.10932C>G (p.Leu3644=)
c.1086C>G (p.Leu362=)
c.2288C>G
c.320C>G
c.2029C>G
c.4423C>G (n.4423C>G)
c.10806C>G (p.Leu3602=)
n.4735C>G
c.10935C>G (p.Leu3645=)
2g.73572809C>TCA427024124ALMS1c.10551C>T (p.Leu3517=)
c.3637C>T
c.7832C>T
c.4998C>T (p.Leu1666=)
c.7877C>T
c.10932C>T (p.Leu3644=)
c.1086C>T (p.Leu362=)
c.2288C>T
c.320C>T
c.2029C>T
c.4423C>T (n.4423C>T)
c.10806C>T (p.Leu3602=)
n.4735C>T
c.10935C>T (p.Leu3645=)
2g.73572810C>ACA347286277ALMS1c.10552C>A (p.Gln3518Lys)
c.3638C>A
c.7833C>A
c.4999C>A (p.Gln1667Lys)
c.7878C>A
c.10933C>A (p.Gln3645Lys)
c.1087C>A (p.Gln363Lys)
c.2289C>A
c.321C>A
c.2030C>A
c.4424C>A (n.4424C>A)
c.10807C>A (p.Gln3603Lys)
n.4736C>A
c.10936C>A (p.Gln3646Lys)
2g.73572810C=CA1261021970ALMS1c.10552C= (p.Gln3518=)
c.3638C=
c.7833C=
c.4999C= (p.Gln1667=)
c.7878C=
c.10933C= (p.Gln3645=)
c.1087C= (p.Gln363=)
c.2289C=
c.321C=
c.2030C=
c.4424C= (n.4424C=)
c.10807C= (p.Gln3603=)
n.4736C=
c.10936C= (p.Gln3646=)
2g.73572810C>GCA347286278ALMS1c.10552C>G (p.Gln3518Glu)
c.3638C>G
c.7833C>G
c.4999C>G (p.Gln1667Glu)
c.7878C>G
c.10933C>G (p.Gln3645Glu)
c.1087C>G (p.Gln363Glu)
c.2289C>G
c.321C>G
c.2030C>G
c.4424C>G (n.4424C>G)
c.10807C>G (p.Gln3603Glu)
n.4736C>G
c.10936C>G (p.Gln3646Glu)
2g.73572810C>TCA347286279ALMS1c.10552C>T (p.Gln3518Ter)
c.3638C>T
c.7833C>T
c.4999C>T (p.Gln1667Ter)
c.7878C>T
c.10933C>T (p.Gln3645Ter)
c.1087C>T (p.Gln363Ter)
c.2289C>T
c.321C>T
c.2030C>T
c.4424C>T (n.4424C>T)
c.10807C>T (p.Gln3603Ter)
n.4736C>T
c.10936C>T (p.Gln3646Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73572813_73572819delCA2586964958ALMS1c.10555_10561del (p.Val3519LysfsTer13)
c.3641_3647del
c.7836_7842del
c.5002_5008del (p.Val1668LysfsTer13)
c.7881_7887del
c.10936_10942del (p.Val3646LysfsTer13)
c.1090_1096del (p.Val364LysfsTer13)
c.2292_2298del
c.324_330del
c.2033_2039del
c.4427_4433del (n.4427_4433del)
c.10810_10816del (p.Val3604LysfsTer13)
n.4739_4745del
c.10939_10945del (p.Val3647LysfsTer13)
2g.73572811A>CCA347286281ALMS1c.10553A>C (p.Gln3518Pro)
c.3639A>C
c.7834A>C
c.5000A>C (p.Gln1667Pro)
c.7879A>C
c.10934A>C (p.Gln3645Pro)
c.1088A>C (p.Gln363Pro)
c.2290A>C
c.322A>C
c.2031A>C
c.4425A>C (n.4425A>C)
c.10808A>C (p.Gln3603Pro)
n.4737A>C
c.10937A>C (p.Gln3646Pro)
2g.73572811A>GCA347286282ALMS1c.10553A>G (p.Gln3518Arg)
c.3639A>G
c.7834A>G
c.5000A>G (p.Gln1667Arg)
c.7879A>G
c.10934A>G (p.Gln3645Arg)
c.1088A>G (p.Gln363Arg)
c.2290A>G
c.322A>G
c.2031A>G
c.4425A>G (n.4425A>G)
c.10808A>G (p.Gln3603Arg)
n.4737A>G
c.10937A>G (p.Gln3646Arg)
2g.73572811A>TCA347286283ALMS1c.10553A>T (p.Gln3518Leu)
c.3639A>T
c.7834A>T
c.5000A>T (p.Gln1667Leu)
c.7879A>T
c.10934A>T (p.Gln3645Leu)
c.1088A>T (p.Gln363Leu)
c.2290A>T
c.322A>T
c.2031A>T
c.4425A>T (n.4425A>T)
c.10808A>T (p.Gln3603Leu)
n.4737A>T
c.10937A>T (p.Gln3646Leu)
2g.73572812G>ACA427024129ALMS1c.10554G>A (p.Gln3518=)
c.3640G>A
c.7835G>A
c.5001G>A (p.Gln1667=)
c.7880G>A
c.10935G>A (p.Gln3645=)
c.1089G>A (p.Gln363=)
c.2291G>A
c.323G>A
c.2032G>A
c.4426G>A (n.4426G>A)
c.10809G>A (p.Gln3603=)
n.4738G>A
c.10938G>A (p.Gln3646=)
2g.73572812G>CCA347286286ALMS1c.10554G>C (p.Gln3518His)
c.3640G>C
c.7835G>C
c.5001G>C (p.Gln1667His)
c.7880G>C
c.10935G>C (p.Gln3645His)
c.1089G>C (p.Gln363His)
c.2291G>C
c.323G>C
c.2032G>C
c.4426G>C (n.4426G>C)
c.10809G>C (p.Gln3603His)
n.4738G>C
c.10938G>C (p.Gln3646His)
 gnomAD v4
2g.73572812G>TCA347286288ALMS1c.10554G>T (p.Gln3518His)
c.3640G>T
c.7835G>T
c.5001G>T (p.Gln1667His)
c.7880G>T
c.10935G>T (p.Gln3645His)
c.1089G>T (p.Gln363His)
c.2291G>T
c.323G>T
c.2032G>T
c.4426G>T (n.4426G>T)
c.10809G>T (p.Gln3603His)
n.4738G>T
c.10938G>T (p.Gln3646His)
2g.73572813G>ACA347286297ALMS1c.10555G>A (p.Val3519Ile)
c.3641G>A
c.7836G>A
c.5002G>A (p.Val1668Ile)
c.7881G>A
c.10936G>A (p.Val3646Ile)
c.1090G>A (p.Val364Ile)
c.2292G>A
c.324G>A
c.2033G>A
c.4427G>A (n.4427G>A)
c.10810G>A (p.Val3604Ile)
n.4739G>A
c.10939G>A (p.Val3647Ile)
2g.73572813G>CCA347286295ALMS1c.10555G>C (p.Val3519Leu)
c.3641G>C
c.7836G>C
c.5002G>C (p.Val1668Leu)
c.7881G>C
c.10936G>C (p.Val3646Leu)
c.1090G>C (p.Val364Leu)
c.2292G>C
c.324G>C
c.2033G>C
c.4427G>C (n.4427G>C)
c.10810G>C (p.Val3604Leu)
n.4739G>C
c.10939G>C (p.Val3647Leu)
2g.73572813G>TCA347286292ALMS1c.10555G>T (p.Val3519Phe)
c.3641G>T
c.7836G>T
c.5002G>T (p.Val1668Phe)
c.7881G>T
c.10936G>T (p.Val3646Phe)
c.1090G>T (p.Val364Phe)
c.2292G>T
c.324G>T
c.2033G>T
c.4427G>T (n.4427G>T)
c.10810G>T (p.Val3604Phe)
n.4739G>T
c.10939G>T (p.Val3647Phe)
2g.73572814T>ACA347286302ALMS1c.10556T>A (p.Val3519Asp)
c.3642T>A
c.7837T>A
c.5003T>A (p.Val1668Asp)
c.7882T>A
c.10937T>A (p.Val3646Asp)
c.1091T>A (p.Val364Asp)
c.2293T>A
c.325T>A
c.2034T>A
c.4428T>A (n.4428T>A)
c.10811T>A (p.Val3604Asp)
n.4740T>A
c.10940T>A (p.Val3647Asp)
2g.73572814T>CCA347286307ALMS1c.10556T>C (p.Val3519Ala)
c.3642T>C
c.7837T>C
c.5003T>C (p.Val1668Ala)
c.7882T>C
c.10937T>C (p.Val3646Ala)
c.1091T>C (p.Val364Ala)
c.2293T>C
c.325T>C
c.2034T>C
c.4428T>C (n.4428T>C)
c.10811T>C (p.Val3604Ala)
n.4740T>C
c.10940T>C (p.Val3647Ala)
 gnomAD v4
2g.73572814T>GCA347286305ALMS1c.10556T>G (p.Val3519Gly)
c.3642T>G
c.7837T>G
c.5003T>G (p.Val1668Gly)
c.7882T>G
c.10937T>G (p.Val3646Gly)
c.1091T>G (p.Val364Gly)
c.2293T>G
c.325T>G
c.2034T>G
c.4428T>G (n.4428T>G)
c.10811T>G (p.Val3604Gly)
n.4740T>G
c.10940T>G (p.Val3647Gly)
2g.73572815C>ACA427024141ALMS1c.10557C>A (p.Val3519=)
c.3643C>A
c.7838C>A
c.5004C>A (p.Val1668=)
c.7883C>A
c.10938C>A (p.Val3646=)
c.1092C>A (p.Val364=)
c.2294C>A
c.326C>A
c.2035C>A
c.4429C>A (n.4429C>A)
c.10812C>A (p.Val3604=)
n.4741C>A
c.10941C>A (p.Val3647=)
 dbSNP gnomAD v2
2g.73572815C=CA1261021974ALMS1c.10557C= (p.Val3519=)
c.3643C=
c.7838C=
c.5004C= (p.Val1668=)
c.7883C=
c.10938C= (p.Val3646=)
c.1092C= (p.Val364=)
c.2294C=
c.326C=
c.2035C=
c.4429C= (n.4429C=)
c.10812C= (p.Val3604=)
n.4741C=
c.10941C= (p.Val3647=)
2g.73572815C>GCA427024139ALMS1c.10557C>G (p.Val3519=)
c.3643C>G
c.7838C>G
c.5004C>G (p.Val1668=)
c.7883C>G
c.10938C>G (p.Val3646=)
c.1092C>G (p.Val364=)
c.2294C>G
c.326C>G
c.2035C>G
c.4429C>G (n.4429C>G)
c.10812C>G (p.Val3604=)
n.4741C>G
c.10941C>G (p.Val3647=)
 dbSNP gnomAD v3 gnomAD v4
2g.73572815C>TCA427024136ALMS1c.10557C>T (p.Val3519=)
c.3643C>T
c.7838C>T
c.5004C>T (p.Val1668=)
c.7883C>T
c.10938C>T (p.Val3646=)
c.1092C>T (p.Val364=)
c.2294C>T
c.326C>T
c.2035C>T
c.4429C>T (n.4429C>T)
c.10812C>T (p.Val3604=)
n.4741C>T
c.10941C>T (p.Val3647=)
 ClinVar
2g.73572816T>ACA347286312ALMS1c.10558T>A (p.Ser3520Thr)
c.3644T>A
c.7839T>A
c.5005T>A (p.Ser1669Thr)
c.7884T>A
c.10939T>A (p.Ser3647Thr)
c.1093T>A (p.Ser365Thr)
c.2295T>A
c.327T>A
c.2036T>A
c.4430T>A (n.4430T>A)
c.10813T>A (p.Ser3605Thr)
n.4742T>A
c.10942T>A (p.Ser3648Thr)
2g.73572816T>CCA347286315ALMS1c.10558T>C (p.Ser3520Pro)
c.3644T>C
c.7839T>C
c.5005T>C (p.Ser1669Pro)
c.7884T>C
c.10939T>C (p.Ser3647Pro)
c.1093T>C (p.Ser365Pro)
c.2295T>C
c.327T>C
c.2036T>C
c.4430T>C (n.4430T>C)
c.10813T>C (p.Ser3605Pro)
n.4742T>C
c.10942T>C (p.Ser3648Pro)
2g.73572816T>GCA347286317ALMS1c.10558T>G (p.Ser3520Ala)
c.3644T>G
c.7839T>G
c.5005T>G (p.Ser1669Ala)
c.7884T>G
c.10939T>G (p.Ser3647Ala)
c.1093T>G (p.Ser365Ala)
c.2295T>G
c.327T>G
c.2036T>G
c.4430T>G (n.4430T>G)
c.10813T>G (p.Ser3605Ala)
n.4742T>G
c.10942T>G (p.Ser3648Ala)
2g.73572817C>ACA347286320ALMS1c.10559C>A (p.Ser3520Ter)
c.3645C>A
c.7840C>A
c.5006C>A (p.Ser1669Ter)
c.7885C>A
c.10940C>A (p.Ser3647Ter)
c.1094C>A (p.Ser365Ter)
c.2296C>A
c.328C>A
c.2037C>A
c.4431C>A (n.4431C>A)
c.10814C>A (p.Ser3605Ter)
n.4743C>A
c.10943C>A (p.Ser3648Ter)
2g.73572817C>GCA347286322ALMS1c.10559C>G (p.Ser3520Ter)
c.3645C>G
c.7840C>G
c.5006C>G (p.Ser1669Ter)
c.7885C>G
c.10940C>G (p.Ser3647Ter)
c.1094C>G (p.Ser365Ter)
c.2296C>G
c.328C>G
c.2037C>G
c.4431C>G (n.4431C>G)
c.10814C>G (p.Ser3605Ter)
n.4743C>G
c.10943C>G (p.Ser3648Ter)
2g.73572817C>TCA347286325ALMS1c.10559C>T (p.Ser3520Leu)
c.3645C>T
c.7840C>T
c.5006C>T (p.Ser1669Leu)
c.7885C>T
c.10940C>T (p.Ser3647Leu)
c.1094C>T (p.Ser365Leu)
c.2296C>T
c.328C>T
c.2037C>T
c.4431C>T (n.4431C>T)
c.10814C>T (p.Ser3605Leu)
n.4743C>T
c.10943C>T (p.Ser3648Leu)
2g.73572818A>CCA427024143ALMS1c.10560A>C (p.Ser3520=)
c.3646A>C
c.7841A>C
c.5007A>C (p.Ser1669=)
c.7886A>C
c.10941A>C (p.Ser3647=)
c.1095A>C (p.Ser365=)
c.2297A>C
c.329A>C
c.2038A>C
c.4432A>C (n.4432A>C)
c.10815A>C (p.Ser3605=)
n.4744A>C
c.10944A>C (p.Ser3648=)
2g.73572818A>GCA427024144ALMS1c.10560A>G (p.Ser3520=)
c.3646A>G
c.7841A>G
c.5007A>G (p.Ser1669=)
c.7886A>G
c.10941A>G (p.Ser3647=)
c.1095A>G (p.Ser365=)
c.2297A>G
c.329A>G
c.2038A>G
c.4432A>G (n.4432A>G)
c.10815A>G (p.Ser3605=)
n.4744A>G
c.10944A>G (p.Ser3648=)
2g.73572818A>TCA427024145ALMS1c.10560A>T (p.Ser3520=)
c.3646A>T
c.7841A>T
c.5007A>T (p.Ser1669=)
c.7886A>T
c.10941A>T (p.Ser3647=)
c.1095A>T (p.Ser365=)
c.2297A>T
c.329A>T
c.2038A>T
c.4432A>T (n.4432A>T)
c.10815A>T (p.Ser3605=)
n.4744A>T
c.10944A>T (p.Ser3648=)
2g.73572819G>ACA347286329ALMS1c.10561G>A (p.Glu3521Lys)
c.3647G>A
c.7842G>A
c.5008G>A (p.Glu1670Lys)
c.7887G>A
c.10942G>A (p.Glu3648Lys)
c.1096G>A (p.Glu366Lys)
c.2298G>A
c.330G>A
c.2039G>A
c.4433G>A (n.4433G>A)
c.10816G>A (p.Glu3606Lys)
n.4745G>A
c.10945G>A (p.Glu3649Lys)
 ClinVar dbSNP
2g.73572819G>CCA347286331ALMS1c.10561G>C (p.Glu3521Gln)
c.3647G>C
c.7842G>C
c.5008G>C (p.Glu1670Gln)
c.7887G>C
c.10942G>C (p.Glu3648Gln)
c.1096G>C (p.Glu366Gln)
c.2298G>C
c.330G>C
c.2039G>C
c.4433G>C (n.4433G>C)
c.10816G>C (p.Glu3606Gln)
n.4745G>C
c.10945G>C (p.Glu3649Gln)
2g.73572819G=CA1261021982ALMS1c.10561G= (p.Glu3521=)
c.3647G=
c.7842G=
c.5008G= (p.Glu1670=)
c.7887G=
c.10942G= (p.Glu3648=)
c.1096G= (p.Glu366=)
c.2298G=
c.330G=
c.2039G=
c.4433G= (n.4433G=)
c.10816G= (p.Glu3606=)
n.4745G=
c.10945G= (p.Glu3649=)
2g.73572819G>TCA261212ALMS1c.10561G>T (p.Glu3521Ter)
c.3647G>T
c.7842G>T
c.5008G>T (p.Glu1670Ter)
c.7887G>T
c.10942G>T (p.Glu3648Ter)
c.1096G>T (p.Glu366Ter)
c.2298G>T
c.330G>T
c.2039G>T
c.4433G>T (n.4433G>T)
c.10816G>T (p.Glu3606Ter)
n.4745G>T
c.10945G>T (p.Glu3649Ter)
 ClinVar dbSNP
2g.73572820A>CCA347286337ALMS1c.10562A>C (p.Glu3521Ala)
c.3648A>C
c.7843A>C
c.5009A>C (p.Glu1670Ala)
c.7888A>C
c.10943A>C (p.Glu3648Ala)
c.1097A>C (p.Glu366Ala)
c.2299A>C
c.331A>C
c.2040A>C
c.4434A>C (n.4434A>C)
c.10817A>C (p.Glu3606Ala)
n.4746A>C
c.10946A>C (p.Glu3649Ala)
2g.73572820A>GCA347286340ALMS1c.10562A>G (p.Glu3521Gly)
c.3648A>G
c.7843A>G
c.5009A>G (p.Glu1670Gly)
c.7888A>G
c.10943A>G (p.Glu3648Gly)
c.1097A>G (p.Glu366Gly)
c.2299A>G
c.331A>G
c.2040A>G
c.4434A>G (n.4434A>G)
c.10817A>G (p.Glu3606Gly)
n.4746A>G
c.10946A>G (p.Glu3649Gly)
2g.73572820A>TCA347286342ALMS1c.10562A>T (p.Glu3521Val)
c.3648A>T
c.7843A>T
c.5009A>T (p.Glu1670Val)
c.7888A>T
c.10943A>T (p.Glu3648Val)
c.1097A>T (p.Glu366Val)
c.2299A>T
c.331A>T
c.2040A>T
c.4434A>T (n.4434A>T)
c.10817A>T (p.Glu3606Val)
n.4746A>T
c.10946A>T (p.Glu3649Val)
2g.73572821A>CCA347286349ALMS1c.10563A>C (p.Glu3521Asp)
c.3649A>C
c.7844A>C
c.5010A>C (p.Glu1670Asp)
c.7889A>C
c.10944A>C (p.Glu3648Asp)
c.1098A>C (p.Glu366Asp)
c.2300A>C
c.332A>C
c.2041A>C
c.4435A>C (n.4435A>C)
c.10818A>C (p.Glu3606Asp)
n.4747A>C
c.10947A>C (p.Glu3649Asp)
2g.73572821A>GCA427024150ALMS1c.10563A>G (p.Glu3521=)
c.3649A>G
c.7844A>G
c.5010A>G (p.Glu1670=)
c.7889A>G
c.10944A>G (p.Glu3648=)
c.1098A>G (p.Glu366=)
c.2300A>G
c.332A>G
c.2041A>G
c.4435A>G (n.4435A>G)
c.10818A>G (p.Glu3606=)
n.4747A>G
c.10947A>G (p.Glu3649=)
 ClinVar
2g.73572821A>TCA347286346ALMS1c.10563A>T (p.Glu3521Asp)
c.3649A>T
c.7844A>T
c.5010A>T (p.Glu1670Asp)
c.7889A>T
c.10944A>T (p.Glu3648Asp)
c.1098A>T (p.Glu366Asp)
c.2300A>T
c.332A>T
c.2041A>T
c.4435A>T (n.4435A>T)
c.10818A>T (p.Glu3606Asp)
n.4747A>T
c.10947A>T (p.Glu3649Asp)
2g.73572822A>CCA347286352ALMS1c.10564A>C (p.Ser3522Arg)
c.3650A>C
c.7845A>C
c.5011A>C (p.Ser1671Arg)
c.7890A>C
c.10945A>C (p.Ser3649Arg)
c.1099A>C (p.Ser367Arg)
c.2301A>C
c.333A>C
c.2042A>C
c.4436A>C (n.4436A>C)
c.10819A>C (p.Ser3607Arg)
n.4748A>C
c.10948A>C (p.Ser3650Arg)
2g.73572822A>GCA347286354ALMS1c.10564A>G (p.Ser3522Gly)
c.3650A>G
c.7845A>G
c.5011A>G (p.Ser1671Gly)
c.7890A>G
c.10945A>G (p.Ser3649Gly)
c.1099A>G (p.Ser367Gly)
c.2301A>G
c.333A>G
c.2042A>G
c.4436A>G (n.4436A>G)
c.10819A>G (p.Ser3607Gly)
n.4748A>G
c.10948A>G (p.Ser3650Gly)
2g.73572822A>TCA347286357ALMS1c.10564A>T (p.Ser3522Cys)
c.3650A>T
c.7845A>T
c.5011A>T (p.Ser1671Cys)
c.7890A>T
c.10945A>T (p.Ser3649Cys)
c.1099A>T (p.Ser367Cys)
c.2301A>T
c.333A>T
c.2042A>T
c.4436A>T (n.4436A>T)
c.10819A>T (p.Ser3607Cys)
n.4748A>T
c.10948A>T (p.Ser3650Cys)
2g.73572823G>ACA347286361ALMS1c.10565G>A (p.Ser3522Asn)
c.3651G>A
c.7846G>A
c.5012G>A (p.Ser1671Asn)
c.7891G>A
c.10946G>A (p.Ser3649Asn)
c.1100G>A (p.Ser367Asn)
c.2302G>A
c.334G>A
c.2043G>A
c.4437G>A (n.4437G>A)
c.10820G>A (p.Ser3607Asn)
n.4749G>A
c.10949G>A (p.Ser3650Asn)
 ClinVar dbSNP
2g.73572823G>CCA347286364ALMS1c.10565G>C (p.Ser3522Thr)
c.3651G>C
c.7846G>C
c.5012G>C (p.Ser1671Thr)
c.7891G>C
c.10946G>C (p.Ser3649Thr)
c.1100G>C (p.Ser367Thr)
c.2302G>C
c.334G>C
c.2043G>C
c.4437G>C (n.4437G>C)
c.10820G>C (p.Ser3607Thr)
n.4749G>C
c.10949G>C (p.Ser3650Thr)
2g.73572823G>TCA347286368ALMS1c.10565G>T (p.Ser3522Ile)
c.3651G>T
c.7846G>T
c.5012G>T (p.Ser1671Ile)
c.7891G>T
c.10946G>T (p.Ser3649Ile)
c.1100G>T (p.Ser367Ile)
c.2302G>T
c.334G>T
c.2043G>T
c.4437G>T (n.4437G>T)
c.10820G>T (p.Ser3607Ile)
n.4749G>T
c.10949G>T (p.Ser3650Ile)
2g.73572824T>ACA347286372ALMS1c.10566T>A (p.Ser3522Arg)
c.3652T>A
c.7847T>A
c.5013T>A (p.Ser1671Arg)
c.7892T>A
c.10947T>A (p.Ser3649Arg)
c.1101T>A (p.Ser367Arg)
c.2303T>A
c.335T>A
c.2044T>A
c.4438T>A (n.4438T>A)
c.10821T>A (p.Ser3607Arg)
n.4750T>A
c.10950T>A (p.Ser3650Arg)
2g.73572824T>CCA1715091ALMS1c.10566T>C (p.Ser3522=)
c.3652T>C
c.7847T>C
c.5013T>C (p.Ser1671=)
c.7892T>C
c.10947T>C (p.Ser3649=)
c.1101T>C (p.Ser367=)
c.2303T>C
c.335T>C
c.2044T>C
c.4438T>C (n.4438T>C)
c.10821T>C (p.Ser3607=)
n.4750T>C
c.10950T>C (p.Ser3650=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572824T>GCA347286377ALMS1c.10566T>G (p.Ser3522Arg)
c.3652T>G
c.7847T>G
c.5013T>G (p.Ser1671Arg)
c.7892T>G
c.10947T>G (p.Ser3649Arg)
c.1101T>G (p.Ser367Arg)
c.2303T>G
c.335T>G
c.2044T>G
c.4438T>G (n.4438T>G)
c.10821T>G (p.Ser3607Arg)
n.4750T>G
c.10950T>G (p.Ser3650Arg)
2g.73572824T=CA1261021987ALMS1c.10566T= (p.Ser3522=)
c.3652T=
c.7847T=
c.5013T= (p.Ser1671=)
c.7892T=
c.10947T= (p.Ser3649=)
c.1101T= (p.Ser367=)
c.2303T=
c.335T=
c.2044T=
c.4438T= (n.4438T=)
c.10821T= (p.Ser3607=)
n.4750T=
c.10950T= (p.Ser3650=)
2g.73572824_73572826delinsTACCA1261021988ALMS1c.10566_10568delinsTAC (p.Ser3522=)
c.3652_3654delinsTAC
c.7847_7849delinsTAC
c.5013_5015delinsTAC (p.Ser1671=)
c.7892_7894delinsTAC
c.10947_10949delinsTAC (p.Ser3649=)
c.1101_1103delinsTAC (p.Ser367=)
c.2303_2305delinsTAC
c.335_337delinsTAC
c.2044_2046delinsTAC
c.4438_4440delinsTAC (n.4438_4440delinsTAC)
c.10821_10823delinsTAC (p.Ser3607=)
n.4750_4752delinsTAC
c.10950_10952delinsTAC (p.Ser3650=)
2g.73572825A>CCA347286381ALMS1c.10567A>C (p.Thr3523Pro)
c.3653A>C
c.7848A>C
c.5014A>C (p.Thr1672Pro)
c.7893A>C
c.10948A>C (p.Thr3650Pro)
c.1102A>C (p.Thr368Pro)
c.2304A>C
c.336A>C
c.2045A>C
c.4439A>C (n.4439A>C)
c.10822A>C (p.Thr3608Pro)
n.4751A>C
c.10951A>C (p.Thr3651Pro)
2g.73572825A>GCA347286383ALMS1c.10567A>G (p.Thr3523Ala)
c.3653A>G
c.7848A>G
c.5014A>G (p.Thr1672Ala)
c.7893A>G
c.10948A>G (p.Thr3650Ala)
c.1102A>G (p.Thr368Ala)
c.2304A>G
c.336A>G
c.2045A>G
c.4439A>G (n.4439A>G)
c.10822A>G (p.Thr3608Ala)
n.4751A>G
c.10951A>G (p.Thr3651Ala)
 gnomAD v4
2g.73572825A>TCA347286386ALMS1c.10567A>T (p.Thr3523Ser)
c.3653A>T
c.7848A>T
c.5014A>T (p.Thr1672Ser)
c.7893A>T
c.10948A>T (p.Thr3650Ser)
c.1102A>T (p.Thr368Ser)
c.2304A>T
c.336A>T
c.2045A>T
c.4439A>T (n.4439A>T)
c.10822A>T (p.Thr3608Ser)
n.4751A>T
c.10951A>T (p.Thr3651Ser)
2g.73572828_73572829delCA534123608ALMS1c.10570_10571del (p.His3524Ter)
c.3656_3657del
c.7851_7852del
c.5017_5018del (p.His1673Ter)
c.7896_7897del
c.10951_10952del (p.His3651Ter)
c.1105_1106del (p.His369Ter)
c.2307_2308del
c.339_340del
c.2048_2049del
c.4442_4443del (n.4442_4443del)
c.10825_10826del (p.His3609Ter)
n.4754_4755del
c.10954_10955del (p.His3652Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572826C>ACA347286397ALMS1c.10568C>A (p.Thr3523Lys)
c.3654C>A
c.7849C>A
c.5015C>A (p.Thr1672Lys)
c.7894C>A
c.10949C>A (p.Thr3650Lys)
c.1103C>A (p.Thr368Lys)
c.2305C>A
c.337C>A
c.2046C>A
c.4440C>A (n.4440C>A)
c.10823C>A (p.Thr3608Lys)
n.4752C>A
c.10952C>A (p.Thr3651Lys)
2g.73572826C>GCA347286394ALMS1c.10568C>G (p.Thr3523Arg)
c.3654C>G
c.7849C>G
c.5015C>G (p.Thr1672Arg)
c.7894C>G
c.10949C>G (p.Thr3650Arg)
c.1103C>G (p.Thr368Arg)
c.2305C>G
c.337C>G
c.2046C>G
c.4440C>G (n.4440C>G)
c.10823C>G (p.Thr3608Arg)
n.4752C>G
c.10952C>G (p.Thr3651Arg)
2g.73572826C>TCA347286391ALMS1c.10568C>T (p.Thr3523Ile)
c.3654C>T
c.7849C>T
c.5015C>T (p.Thr1672Ile)
c.7894C>T
c.10949C>T (p.Thr3650Ile)
c.1103C>T (p.Thr368Ile)
c.2305C>T
c.337C>T
c.2046C>T
c.4440C>T (n.4440C>T)
c.10823C>T (p.Thr3608Ile)
n.4752C>T
c.10952C>T (p.Thr3651Ile)
2g.73572827A=CA1261021994ALMS1c.10569A= (p.Thr3523=)
c.3655A=
c.7850A=
c.5016A= (p.Thr1672=)
c.7895A=
c.10950A= (p.Thr3650=)
c.1104A= (p.Thr368=)
c.2306A=
c.338A=
c.2047A=
c.4441A= (n.4441A=)
c.10824A= (p.Thr3608=)
n.4753A=
c.10953A= (p.Thr3651=)
2g.73572827A>CCA427024156ALMS1c.10569A>C (p.Thr3523=)
c.3655A>C
c.7850A>C
c.5016A>C (p.Thr1672=)
c.7895A>C
c.10950A>C (p.Thr3650=)
c.1104A>C (p.Thr368=)
c.2306A>C
c.338A>C
c.2047A>C
c.4441A>C (n.4441A>C)
c.10824A>C (p.Thr3608=)
n.4753A>C
c.10953A>C (p.Thr3651=)
2g.73572827A>GCA427024158ALMS1c.10569A>G (p.Thr3523=)
c.3655A>G
c.7850A>G
c.5016A>G (p.Thr1672=)
c.7895A>G
c.10950A>G (p.Thr3650=)
c.1104A>G (p.Thr368=)
c.2306A>G
c.338A>G
c.2047A>G
c.4441A>G (n.4441A>G)
c.10824A>G (p.Thr3608=)
n.4753A>G
c.10953A>G (p.Thr3651=)
 ClinVar dbSNP gnomAD v4
2g.73572827A>TCA427024157ALMS1c.10569A>T (p.Thr3523=)
c.3655A>T
c.7850A>T
c.5016A>T (p.Thr1672=)
c.7895A>T
c.10950A>T (p.Thr3650=)
c.1104A>T (p.Thr368=)
c.2306A>T
c.338A>T
c.2047A>T
c.4441A>T (n.4441A>T)
c.10824A>T (p.Thr3608=)
n.4753A>T
c.10953A>T (p.Thr3651=)
2g.73572828C>ACA347286401ALMS1c.10570C>A (p.His3524Asn)
c.3656C>A
c.7851C>A
c.5017C>A (p.His1673Asn)
c.7896C>A
c.10951C>A (p.His3651Asn)
c.1105C>A (p.His369Asn)
c.2307C>A
c.339C>A
c.2048C>A
c.4442C>A (n.4442C>A)
c.10825C>A (p.His3609Asn)
n.4754C>A
c.10954C>A (p.His3652Asn)
2g.73572828C=CA1261021996ALMS1c.10570C= (p.His3524=)
c.3656C=
c.7851C=
c.5017C= (p.His1673=)
c.7896C=
c.10951C= (p.His3651=)
c.1105C= (p.His369=)
c.2307C=
c.339C=
c.2048C=
c.4442C= (n.4442C=)
c.10825C= (p.His3609=)
n.4754C=
c.10954C= (p.His3652=)
2g.73572828C>GCA347286403ALMS1c.10570C>G (p.His3524Asp)
c.3656C>G
c.7851C>G
c.5017C>G (p.His1673Asp)
c.7896C>G
c.10951C>G (p.His3651Asp)
c.1105C>G (p.His369Asp)
c.2307C>G
c.339C>G
c.2048C>G
c.4442C>G (n.4442C>G)
c.10825C>G (p.His3609Asp)
n.4754C>G
c.10954C>G (p.His3652Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.73572828C>TCA1715092ALMS1c.10570C>T (p.His3524Tyr)
c.3656C>T
c.7851C>T
c.5017C>T (p.His1673Tyr)
c.7896C>T
c.10951C>T (p.His3651Tyr)
c.1105C>T (p.His369Tyr)
c.2307C>T
c.339C>T
c.2048C>T
c.4442C>T (n.4442C>T)
c.10825C>T (p.His3609Tyr)
n.4754C>T
c.10954C>T (p.His3652Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572829A=CA1261021998ALMS1c.10571A= (p.His3524=)
c.3657A=
c.7852A=
c.5018A= (p.His1673=)
c.7897A=
c.10952A= (p.His3651=)
c.1106A= (p.His369=)
c.2308A=
c.340A=
c.2049A=
c.4443A= (n.4443A=)
c.10826A= (p.His3609=)
n.4755A=
c.10955A= (p.His3652=)
2g.73572829A>CCA347286409ALMS1c.10571A>C (p.His3524Pro)
c.3657A>C
c.7852A>C
c.5018A>C (p.His1673Pro)
c.7897A>C
c.10952A>C (p.His3651Pro)
c.1106A>C (p.His369Pro)
c.2308A>C
c.340A>C
c.2049A>C
c.4443A>C (n.4443A>C)
c.10826A>C (p.His3609Pro)
n.4755A>C
c.10955A>C (p.His3652Pro)
2g.73572829A>GCA347286412ALMS1c.10571A>G (p.His3524Arg)
c.3657A>G
c.7852A>G
c.5018A>G (p.His1673Arg)
c.7897A>G
c.10952A>G (p.His3651Arg)
c.1106A>G (p.His369Arg)
c.2308A>G
c.340A>G
c.2049A>G
c.4443A>G (n.4443A>G)
c.10826A>G (p.His3609Arg)
n.4755A>G
c.10955A>G (p.His3652Arg)
 ClinVar dbSNP
2g.73572829A>TCA347286415ALMS1c.10571A>T (p.His3524Leu)
c.3657A>T
c.7852A>T
c.5018A>T (p.His1673Leu)
c.7897A>T
c.10952A>T (p.His3651Leu)
c.1106A>T (p.His369Leu)
c.2308A>T
c.340A>T
c.2049A>T
c.4443A>T (n.4443A>T)
c.10826A>T (p.His3609Leu)
n.4755A>T
c.10955A>T (p.His3652Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572829_73572830delCA2750467829ALMS1c.10571_10572del (p.His3524ArgfsTer2)
c.3657_3658del
c.7852_7853del
c.5018_5019del (p.His1673ArgfsTer2)
c.7897_7898del
c.10952_10953del (p.His3651ArgfsTer2)
c.1106_1107del (p.His369ArgfsTer2)
c.2308_2309del
c.340_341del
c.2049_2050del
c.4443_4444del (n.4443_4444del)
c.10826_10827del (p.His3609ArgfsTer2)
n.4755_4756del
c.10955_10956del (p.His3652ArgfsTer2)
2g.73572834_73572836delCA2659617248ALMS1c.10576_10578del (p.Asp3526del)
c.3662_3664del
c.7857_7859del
c.5023_5025del (p.Asp1675del)
c.7902_7904del
c.10957_10959del (p.Asp3653del)
c.1111_1113del (p.Asp371del)
c.2313_2315del
c.345_347del
c.2054_2056del
c.4448_4450del (n.4448_4450del)
c.10831_10833del (p.Asp3611del)
n.4760_4762del
c.10960_10962del (p.Asp3654del)
 gnomAD v4
2g.73572830T>ACA347286417ALMS1c.10572T>A (p.His3524Gln)
c.3658T>A
c.7853T>A
c.5019T>A (p.His1673Gln)
c.7898T>A
c.10953T>A (p.His3651Gln)
c.1107T>A (p.His369Gln)
c.2309T>A
c.341T>A
c.2050T>A
c.4444T>A (n.4444T>A)
c.10827T>A (p.His3609Gln)
n.4756T>A
c.10956T>A (p.His3652Gln)
 gnomAD v4
2g.73572830T>CCA427024166ALMS1c.10572T>C (p.His3524=)
c.3658T>C
c.7853T>C
c.5019T>C (p.His1673=)
c.7898T>C
c.10953T>C (p.His3651=)
c.1107T>C (p.His369=)
c.2309T>C
c.341T>C
c.2050T>C
c.4444T>C (n.4444T>C)
c.10827T>C (p.His3609=)
n.4756T>C
c.10956T>C (p.His3652=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572830T>GCA347286420ALMS1c.10572T>G (p.His3524Gln)
c.3658T>G
c.7853T>G
c.5019T>G (p.His1673Gln)
c.7898T>G
c.10953T>G (p.His3651Gln)
c.1107T>G (p.His369Gln)
c.2309T>G
c.341T>G
c.2050T>G
c.4444T>G (n.4444T>G)
c.10827T>G (p.His3609Gln)
n.4756T>G
c.10956T>G (p.His3652Gln)
2g.73572830T=CA1261022001ALMS1c.10572T= (p.His3524=)
c.3658T=
c.7853T=
c.5019T= (p.His1673=)
c.7898T=
c.10953T= (p.His3651=)
c.1107T= (p.His369=)
c.2309T=
c.341T=
c.2050T=
c.4444T= (n.4444T=)
c.10827T= (p.His3609=)
n.4756T=
c.10956T= (p.His3652=)
2g.73572831G>ACA347286424ALMS1c.10573G>A (p.Asp3525Asn)
c.3659G>A
c.7854G>A
c.5020G>A (p.Asp1674Asn)
c.7899G>A
c.10954G>A (p.Asp3652Asn)
c.1108G>A (p.Asp370Asn)
c.2310G>A
c.342G>A
c.2051G>A
c.4445G>A (n.4445G>A)
c.10828G>A (p.Asp3610Asn)
n.4757G>A
c.10957G>A (p.Asp3653Asn)
 gnomAD v4
2g.73572831G>CCA347286427ALMS1c.10573G>C (p.Asp3525His)
c.3659G>C
c.7854G>C
c.5020G>C (p.Asp1674His)
c.7899G>C
c.10954G>C (p.Asp3652His)
c.1108G>C (p.Asp370His)
c.2310G>C
c.342G>C
c.2051G>C
c.4445G>C (n.4445G>C)
c.10828G>C (p.Asp3610His)
n.4757G>C
c.10957G>C (p.Asp3653His)
2g.73572831G>TCA347286429ALMS1c.10573G>T (p.Asp3525Tyr)
c.3659G>T
c.7854G>T
c.5020G>T (p.Asp1674Tyr)
c.7899G>T
c.10954G>T (p.Asp3652Tyr)
c.1108G>T (p.Asp370Tyr)
c.2310G>T
c.342G>T
c.2051G>T
c.4445G>T (n.4445G>T)
c.10828G>T (p.Asp3610Tyr)
n.4757G>T
c.10957G>T (p.Asp3653Tyr)
2g.73572832A=CA1261022004ALMS1c.10574A= (p.Asp3525=)
c.3660A=
c.7855A=
c.5021A= (p.Asp1674=)
c.7900A=
c.10955A= (p.Asp3652=)
c.1109A= (p.Asp370=)
c.2311A=
c.343A=
c.2052A=
c.4446A= (n.4446A=)
c.10829A= (p.Asp3610=)
n.4758A=
c.10958A= (p.Asp3653=)
2g.73572832A>CCA347286434ALMS1c.10574A>C (p.Asp3525Ala)
c.3660A>C
c.7855A>C
c.5021A>C (p.Asp1674Ala)
c.7900A>C
c.10955A>C (p.Asp3652Ala)
c.1109A>C (p.Asp370Ala)
c.2311A>C
c.343A>C
c.2052A>C
c.4446A>C (n.4446A>C)
c.10829A>C (p.Asp3610Ala)
n.4758A>C
c.10958A>C (p.Asp3653Ala)
2g.73572832A>GCA347286437ALMS1c.10574A>G (p.Asp3525Gly)
c.3660A>G
c.7855A>G
c.5021A>G (p.Asp1674Gly)
c.7900A>G
c.10955A>G (p.Asp3652Gly)
c.1109A>G (p.Asp370Gly)
c.2311A>G
c.343A>G
c.2052A>G
c.4446A>G (n.4446A>G)
c.10829A>G (p.Asp3610Gly)
n.4758A>G
c.10958A>G (p.Asp3653Gly)
 gnomAD v4
2g.73572832A>TCA1715093ALMS1c.10574A>T (p.Asp3525Val)
c.3660A>T
c.7855A>T
c.5021A>T (p.Asp1674Val)
c.7900A>T
c.10955A>T (p.Asp3652Val)
c.1109A>T (p.Asp370Val)
c.2311A>T
c.343A>T
c.2052A>T
c.4446A>T (n.4446A>T)
c.10829A>T (p.Asp3610Val)
n.4758A>T
c.10958A>T (p.Asp3653Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572833T>ACA347286441ALMS1c.10575T>A (p.Asp3525Glu)
c.3661T>A
c.7856T>A
c.5022T>A (p.Asp1674Glu)
c.7901T>A
c.10956T>A (p.Asp3652Glu)
c.1110T>A (p.Asp370Glu)
c.2312T>A
c.344T>A
c.2053T>A
c.4447T>A (n.4447T>A)
c.10830T>A (p.Asp3610Glu)
n.4759T>A
c.10959T>A (p.Asp3653Glu)
2g.73572833T>CCA427024174ALMS1c.10575T>C (p.Asp3525=)
c.3661T>C
c.7856T>C
c.5022T>C (p.Asp1674=)
c.7901T>C
c.10956T>C (p.Asp3652=)
c.1110T>C (p.Asp370=)
c.2312T>C
c.344T>C
c.2053T>C
c.4447T>C (n.4447T>C)
c.10830T>C (p.Asp3610=)
n.4759T>C
c.10959T>C (p.Asp3653=)
2g.73572833T>GCA347286445ALMS1c.10575T>G (p.Asp3525Glu)
c.3661T>G
c.7856T>G
c.5022T>G (p.Asp1674Glu)
c.7901T>G
c.10956T>G (p.Asp3652Glu)
c.1110T>G (p.Asp370Glu)
c.2312T>G
c.344T>G
c.2053T>G
c.4447T>G (n.4447T>G)
c.10830T>G (p.Asp3610Glu)
n.4759T>G
c.10959T>G (p.Asp3653Glu)

Number of alleles fetched