Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73572451A>CCA347283807ALMS1c.10193A>C (p.His3398Pro)
c.3279A>C
c.7474A>C
c.4640A>C (p.His1547Pro)
c.7519A>C
c.10574A>C (p.His3525Pro)
c.728A>C (p.His243Pro)
c.1930A>C
c.1671A>C
c.4065A>C (n.4065A>C)
c.10448A>C (p.His3483Pro)
n.4377A>C
c.10577A>C (p.His3526Pro)
2g.73572451A>GCA347283809ALMS1c.10193A>G (p.His3398Arg)
c.3279A>G
c.7474A>G
c.4640A>G (p.His1547Arg)
c.7519A>G
c.10574A>G (p.His3525Arg)
c.728A>G (p.His243Arg)
c.1930A>G
c.1671A>G
c.4065A>G (n.4065A>G)
c.10448A>G (p.His3483Arg)
n.4377A>G
c.10577A>G (p.His3526Arg)
2g.73572451A>TCA347283814ALMS1c.10193A>T (p.His3398Leu)
c.3279A>T
c.7474A>T
c.4640A>T (p.His1547Leu)
c.7519A>T
c.10574A>T (p.His3525Leu)
c.728A>T (p.His243Leu)
c.1930A>T
c.1671A>T
c.4065A>T (n.4065A>T)
c.10448A>T (p.His3483Leu)
n.4377A>T
c.10577A>T (p.His3526Leu)
2g.73572456_73572482delCA2554183417ALMS1c.10198_10224del (p.Cys3400_Met3408del)
c.3284_3310del
c.7479_7505del
c.4645_4671del (p.Cys1549_Met1557del)
c.7524_7550del
c.10579_10605del (p.Cys3527_Met3535del)
c.733_759del (p.Cys245_Met253del)
c.1935_1961del
c.1676_1702del
c.4070_4096del (n.4070_4096del)
c.10453_10479del (p.Cys3485_Met3493del)
n.4382_4408del
c.10582_10608del (p.Cys3528_Met3536del)
2g.73572452C>ACA347283821ALMS1c.10194C>A (p.His3398Gln)
c.3280C>A
c.7475C>A
c.4641C>A (p.His1547Gln)
c.7520C>A
c.10575C>A (p.His3525Gln)
c.729C>A (p.His243Gln)
c.1931C>A
c.1672C>A
c.4066C>A (n.4066C>A)
c.10449C>A (p.His3483Gln)
n.4378C>A
c.10578C>A (p.His3526Gln)
 ClinVar dbSNP
2g.73572452C=CA1261021210ALMS1c.10194C= (p.His3398=)
c.3280C=
c.7475C=
c.4641C= (p.His1547=)
c.7520C=
c.10575C= (p.His3525=)
c.729C= (p.His243=)
c.1931C=
c.1672C=
c.4066C= (n.4066C=)
c.10449C= (p.His3483=)
n.4378C=
c.10578C= (p.His3526=)
2g.73572452C>GCA347283823ALMS1c.10194C>G (p.His3398Gln)
c.3280C>G
c.7475C>G
c.4641C>G (p.His1547Gln)
c.7520C>G
c.10575C>G (p.His3525Gln)
c.729C>G (p.His243Gln)
c.1931C>G
c.1672C>G
c.4066C>G (n.4066C>G)
c.10449C>G (p.His3483Gln)
n.4378C>G
c.10578C>G (p.His3526Gln)
2g.73572452C>TCA427024736ALMS1c.10194C>T (p.His3398=)
c.3280C>T
c.7475C>T
c.4641C>T (p.His1547=)
c.7520C>T
c.10575C>T (p.His3525=)
c.729C>T (p.His243=)
c.1931C>T
c.1672C>T
c.4066C>T (n.4066C>T)
c.10449C>T (p.His3483=)
n.4378C>T
c.10578C>T (p.His3526=)
2g.73572452_73572454delinsCATCA1261021209ALMS1c.10194_10196delinsCAT (p.His3398=)
c.3280_3282delinsCAT
c.7475_7477delinsCAT
c.4641_4643delinsCAT (p.His1547=)
c.7520_7522delinsCAT
c.10575_10577delinsCAT (p.His3525=)
c.729_731delinsCAT (p.His243=)
c.1931_1933delinsCAT
c.1672_1674delinsCAT
c.4066_4068delinsCAT (n.4066_4068delinsCAT)
c.10449_10451delinsCAT (p.His3483=)
n.4378_4380delinsCAT
c.10578_10580delinsCAT (p.His3526=)
2g.73572453A>CCA347283830ALMS1c.10195A>C (p.Met3399Leu)
c.3281A>C
c.7476A>C
c.4642A>C (p.Met1548Leu)
c.7521A>C
c.10576A>C (p.Met3526Leu)
c.730A>C (p.Met244Leu)
c.1932A>C
c.1673A>C
c.4067A>C (n.4067A>C)
c.10450A>C (p.Met3484Leu)
n.4379A>C
c.10579A>C (p.Met3527Leu)
 gnomAD v4
2g.73572453A>GCA347283833ALMS1c.10195A>G (p.Met3399Val)
c.3281A>G
c.7476A>G
c.4642A>G (p.Met1548Val)
c.7521A>G
c.10576A>G (p.Met3526Val)
c.730A>G (p.Met244Val)
c.1932A>G
c.1673A>G
c.4067A>G (n.4067A>G)
c.10450A>G (p.Met3484Val)
n.4379A>G
c.10579A>G (p.Met3527Val)
 gnomAD v4
2g.73572453A>TCA347283843ALMS1c.10195A>T (p.Met3399Leu)
c.3281A>T
c.7476A>T
c.4642A>T (p.Met1548Leu)
c.7521A>T
c.10576A>T (p.Met3526Leu)
c.730A>T (p.Met244Leu)
c.1932A>T
c.1673A>T
c.4067A>T (n.4067A>T)
c.10450A>T (p.Met3484Leu)
n.4379A>T
c.10579A>T (p.Met3527Leu)
 gnomAD v4
2g.73572453_73572454delCA1715029ALMS1c.10195_10196del (p.Met3399ValfsTer13)
c.3281_3282del
c.7476_7477del
c.4642_4643del (p.Met1548ValfsTer13)
c.7521_7522del
c.10576_10577del (p.Met3526ValfsTer13)
c.730_731del (p.Met244ValfsTer13)
c.1932_1933del
c.1673_1674del
c.4067_4068del (n.4067_4068del)
c.10450_10451del (p.Met3484ValfsTer13)
n.4379_4380del
c.10579_10580del (p.Met3527ValfsTer13)
 dbSNP ExAC gnomAD v2
2g.73572454T>ACA347283855ALMS1c.10196T>A (p.Met3399Lys)
c.3282T>A
c.7477T>A
c.4643T>A (p.Met1548Lys)
c.7522T>A
c.10577T>A (p.Met3526Lys)
c.731T>A (p.Met244Lys)
c.1933T>A
c.1674T>A
c.4068T>A (n.4068T>A)
c.10451T>A (p.Met3484Lys)
n.4380T>A
c.10580T>A (p.Met3527Lys)
2g.73572454T>CCA347283849ALMS1c.10196T>C (p.Met3399Thr)
c.3282T>C
c.7477T>C
c.4643T>C (p.Met1548Thr)
c.7522T>C
c.10577T>C (p.Met3526Thr)
c.731T>C (p.Met244Thr)
c.1933T>C
c.1674T>C
c.4068T>C (n.4068T>C)
c.10451T>C (p.Met3484Thr)
n.4380T>C
c.10580T>C (p.Met3527Thr)
2g.73572454T>GCA347283852ALMS1c.10196T>G (p.Met3399Arg)
c.3282T>G
c.7477T>G
c.4643T>G (p.Met1548Arg)
c.7522T>G
c.10577T>G (p.Met3526Arg)
c.731T>G (p.Met244Arg)
c.1933T>G
c.1674T>G
c.4068T>G (n.4068T>G)
c.10451T>G (p.Met3484Arg)
n.4380T>G
c.10580T>G (p.Met3527Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73572454T=CA1261021215ALMS1c.10196T= (p.Met3399=)
c.3282T=
c.7477T=
c.4643T= (p.Met1548=)
c.7522T=
c.10577T= (p.Met3526=)
c.731T= (p.Met244=)
c.1933T=
c.1674T=
c.4068T= (n.4068T=)
c.10451T= (p.Met3484=)
n.4380T=
c.10580T= (p.Met3527=)
2g.73572455delCA2499216269ALMS1c.10197del (p.Met3399IlefsTer20)
c.3283del
c.7478del
c.4644del (p.Met1548IlefsTer20)
c.7523del
c.10578del (p.Met3526IlefsTer20)
c.732del (p.Met244IlefsTer20)
c.1934del
c.1675del
c.4069del (n.4069del)
c.10452del (p.Met3484IlefsTer20)
n.4381del
c.10581del (p.Met3527IlefsTer20)
 ClinVar dbSNP gnomAD v4
2g.73572455G>ACA1715030ALMS1c.10197G>A (p.Met3399Ile)
c.3283G>A
c.7478G>A
c.4644G>A (p.Met1548Ile)
c.7523G>A
c.10578G>A (p.Met3526Ile)
c.732G>A (p.Met244Ile)
c.1934G>A
c.1675G>A
c.4069G>A (n.4069G>A)
c.10452G>A (p.Met3484Ile)
n.4381G>A
c.10581G>A (p.Met3527Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572455G>CCA347283861ALMS1c.10197G>C (p.Met3399Ile)
c.3283G>C
c.7478G>C
c.4644G>C (p.Met1548Ile)
c.7523G>C
c.10578G>C (p.Met3526Ile)
c.732G>C (p.Met244Ile)
c.1934G>C
c.1675G>C
c.4069G>C (n.4069G>C)
c.10452G>C (p.Met3484Ile)
n.4381G>C
c.10581G>C (p.Met3527Ile)
 ClinVar
2g.73572455G=CA1261021217ALMS1c.10197G= (p.Met3399=)
c.3283G=
c.7478G=
c.4644G= (p.Met1548=)
c.7523G=
c.10578G= (p.Met3526=)
c.732G= (p.Met244=)
c.1934G=
c.1675G=
c.4069G= (n.4069G=)
c.10452G= (p.Met3484=)
n.4381G=
c.10581G= (p.Met3527=)
2g.73572455G>TCA347283865ALMS1c.10197G>T (p.Met3399Ile)
c.3283G>T
c.7478G>T
c.4644G>T (p.Met1548Ile)
c.7523G>T
c.10578G>T (p.Met3526Ile)
c.732G>T (p.Met244Ile)
c.1934G>T
c.1675G>T
c.4069G>T (n.4069G>T)
c.10452G>T (p.Met3484Ile)
n.4381G>T
c.10581G>T (p.Met3527Ile)
2g.73572456T>ACA347283868ALMS1c.10198T>A (p.Cys3400Ser)
c.3284T>A
c.7479T>A
c.4645T>A (p.Cys1549Ser)
c.7524T>A
c.10579T>A (p.Cys3527Ser)
c.733T>A (p.Cys245Ser)
c.1935T>A
c.1676T>A
c.4070T>A (n.4070T>A)
c.10453T>A (p.Cys3485Ser)
n.4382T>A
c.10582T>A (p.Cys3528Ser)
2g.73572456T>CCA347283872ALMS1c.10198T>C (p.Cys3400Arg)
c.3284T>C
c.7479T>C
c.4645T>C (p.Cys1549Arg)
c.7524T>C
c.10579T>C (p.Cys3527Arg)
c.733T>C (p.Cys245Arg)
c.1935T>C
c.1676T>C
c.4070T>C (n.4070T>C)
c.10453T>C (p.Cys3485Arg)
n.4382T>C
c.10582T>C (p.Cys3528Arg)
2g.73572456T>GCA347283882ALMS1c.10198T>G (p.Cys3400Gly)
c.3284T>G
c.7479T>G
c.4645T>G (p.Cys1549Gly)
c.7524T>G
c.10579T>G (p.Cys3527Gly)
c.733T>G (p.Cys245Gly)
c.1935T>G
c.1676T>G
c.4070T>G (n.4070T>G)
c.10453T>G (p.Cys3485Gly)
n.4382T>G
c.10582T>G (p.Cys3528Gly)
2g.73572457G>ACA347283887ALMS1c.10199G>A (p.Cys3400Tyr)
c.3285G>A
c.7480G>A
c.4646G>A (p.Cys1549Tyr)
c.7525G>A
c.10580G>A (p.Cys3527Tyr)
c.734G>A (p.Cys245Tyr)
c.1936G>A
c.1677G>A
c.4071G>A (n.4071G>A)
c.10454G>A (p.Cys3485Tyr)
n.4383G>A
c.10583G>A (p.Cys3528Tyr)
2g.73572457G>CCA347283893ALMS1c.10199G>C (p.Cys3400Ser)
c.3285G>C
c.7480G>C
c.4646G>C (p.Cys1549Ser)
c.7525G>C
c.10580G>C (p.Cys3527Ser)
c.734G>C (p.Cys245Ser)
c.1936G>C
c.1677G>C
c.4071G>C (n.4071G>C)
c.10454G>C (p.Cys3485Ser)
n.4383G>C
c.10583G>C (p.Cys3528Ser)
2g.73572457G>TCA347283896ALMS1c.10199G>T (p.Cys3400Phe)
c.3285G>T
c.7480G>T
c.4646G>T (p.Cys1549Phe)
c.7525G>T
c.10580G>T (p.Cys3527Phe)
c.734G>T (p.Cys245Phe)
c.1936G>T
c.1677G>T
c.4071G>T (n.4071G>T)
c.10454G>T (p.Cys3485Phe)
n.4383G>T
c.10583G>T (p.Cys3528Phe)
2g.73572458T>ACA347283899ALMS1c.10200T>A (p.Cys3400Ter)
c.3286T>A
c.7481T>A
c.4647T>A (p.Cys1549Ter)
c.7526T>A
c.10581T>A (p.Cys3527Ter)
c.735T>A (p.Cys245Ter)
c.1937T>A
c.1678T>A
c.4072T>A (n.4072T>A)
c.10455T>A (p.Cys3485Ter)
n.4384T>A
c.10584T>A (p.Cys3528Ter)
2g.73572458T>CCA427024756ALMS1c.10200T>C (p.Cys3400=)
c.3286T>C
c.7481T>C
c.4647T>C (p.Cys1549=)
c.7526T>C
c.10581T>C (p.Cys3527=)
c.735T>C (p.Cys245=)
c.1937T>C
c.1678T>C
c.4072T>C (n.4072T>C)
c.10455T>C (p.Cys3485=)
n.4384T>C
c.10584T>C (p.Cys3528=)
2g.73572458T>GCA347283901ALMS1c.10200T>G (p.Cys3400Trp)
c.3286T>G
c.7481T>G
c.4647T>G (p.Cys1549Trp)
c.7526T>G
c.10581T>G (p.Cys3527Trp)
c.735T>G (p.Cys245Trp)
c.1937T>G
c.1678T>G
c.4072T>G (n.4072T>G)
c.10455T>G (p.Cys3485Trp)
n.4384T>G
c.10584T>G (p.Cys3528Trp)
2g.73572459C>ACA347283916ALMS1c.10201C>A (p.Leu3401Ile)
c.3287C>A
c.7482C>A
c.4648C>A (p.Leu1550Ile)
c.7527C>A
c.10582C>A (p.Leu3528Ile)
c.736C>A (p.Leu246Ile)
c.1938C>A
c.1679C>A
c.4073C>A (n.4073C>A)
c.10456C>A (p.Leu3486Ile)
n.4385C>A
c.10585C>A (p.Leu3529Ile)
2g.73572459C>GCA347283913ALMS1c.10201C>G (p.Leu3401Val)
c.3287C>G
c.7482C>G
c.4648C>G (p.Leu1550Val)
c.7527C>G
c.10582C>G (p.Leu3528Val)
c.736C>G (p.Leu246Val)
c.1938C>G
c.1679C>G
c.4073C>G (n.4073C>G)
c.10456C>G (p.Leu3486Val)
n.4385C>G
c.10585C>G (p.Leu3529Val)
2g.73572459C>TCA347283910ALMS1c.10201C>T (p.Leu3401Phe)
c.3287C>T
c.7482C>T
c.4648C>T (p.Leu1550Phe)
c.7527C>T
c.10582C>T (p.Leu3528Phe)
c.736C>T (p.Leu246Phe)
c.1938C>T
c.1679C>T
c.4073C>T (n.4073C>T)
c.10456C>T (p.Leu3486Phe)
n.4385C>T
c.10585C>T (p.Leu3529Phe)
 gnomAD v4
2g.73572459dupCA2659617082ALMS1c.10201dup (p.Leu3401ProfsTer12)
c.3287dup
c.7482dup
c.4648dup (p.Leu1550ProfsTer12)
c.7527dup
c.10582dup (p.Leu3528ProfsTer12)
c.736dup (p.Leu246ProfsTer12)
c.1938dup
c.1679dup
c.4073dup (n.4073dup)
c.10456dup (p.Leu3486ProfsTer12)
n.4385dup
c.10585dup (p.Leu3529ProfsTer12)
 gnomAD v4
2g.73572460T>ACA347283919ALMS1c.10202T>A (p.Leu3401His)
c.3288T>A
c.7483T>A
c.4649T>A (p.Leu1550His)
c.7528T>A
c.10583T>A (p.Leu3528His)
c.737T>A (p.Leu246His)
c.1939T>A
c.1680T>A
c.4074T>A (n.4074T>A)
c.10457T>A (p.Leu3486His)
n.4386T>A
c.10586T>A (p.Leu3529His)
2g.73572460T>CCA347283923ALMS1c.10202T>C (p.Leu3401Pro)
c.3288T>C
c.7483T>C
c.4649T>C (p.Leu1550Pro)
c.7528T>C
c.10583T>C (p.Leu3528Pro)
c.737T>C (p.Leu246Pro)
c.1939T>C
c.1680T>C
c.4074T>C (n.4074T>C)
c.10457T>C (p.Leu3486Pro)
n.4386T>C
c.10586T>C (p.Leu3529Pro)
2g.73572460T>GCA347283926ALMS1c.10202T>G (p.Leu3401Arg)
c.3288T>G
c.7483T>G
c.4649T>G (p.Leu1550Arg)
c.7528T>G
c.10583T>G (p.Leu3528Arg)
c.737T>G (p.Leu246Arg)
c.1939T>G
c.1680T>G
c.4074T>G (n.4074T>G)
c.10457T>G (p.Leu3486Arg)
n.4386T>G
c.10586T>G (p.Leu3529Arg)
2g.73572461T>ACA427024763ALMS1c.10203T>A (p.Leu3401=)
c.3289T>A
c.7484T>A
c.4650T>A (p.Leu1550=)
c.7529T>A
c.10584T>A (p.Leu3528=)
c.738T>A (p.Leu246=)
c.1940T>A
c.1681T>A
c.4075T>A (n.4075T>A)
c.10458T>A (p.Leu3486=)
n.4387T>A
c.10587T>A (p.Leu3529=)
2g.73572461T>CCA427024765ALMS1c.10203T>C (p.Leu3401=)
c.3289T>C
c.7484T>C
c.4650T>C (p.Leu1550=)
c.7529T>C
c.10584T>C (p.Leu3528=)
c.738T>C (p.Leu246=)
c.1940T>C
c.1681T>C
c.4075T>C (n.4075T>C)
c.10458T>C (p.Leu3486=)
n.4387T>C
c.10587T>C (p.Leu3529=)
2g.73572461T>GCA427024766ALMS1c.10203T>G (p.Leu3401=)
c.3289T>G
c.7484T>G
c.4650T>G (p.Leu1550=)
c.7529T>G
c.10584T>G (p.Leu3528=)
c.738T>G (p.Leu246=)
c.1940T>G
c.1681T>G
c.4075T>G (n.4075T>G)
c.10458T>G (p.Leu3486=)
n.4387T>G
c.10587T>G (p.Leu3529=)
2g.73572462C>ACA347283931ALMS1c.10204C>A (p.Pro3402Thr)
c.3290C>A
c.7485C>A
c.4651C>A (p.Pro1551Thr)
c.7530C>A
c.10585C>A (p.Pro3529Thr)
c.739C>A (p.Pro247Thr)
c.1941C>A
c.1682C>A
c.4076C>A (n.4076C>A)
c.10459C>A (p.Pro3487Thr)
n.4388C>A
c.10588C>A (p.Pro3530Thr)
2g.73572462C>GCA347283933ALMS1c.10204C>G (p.Pro3402Ala)
c.3290C>G
c.7485C>G
c.4651C>G (p.Pro1551Ala)
c.7530C>G
c.10585C>G (p.Pro3529Ala)
c.739C>G (p.Pro247Ala)
c.1941C>G
c.1682C>G
c.4076C>G (n.4076C>G)
c.10459C>G (p.Pro3487Ala)
n.4388C>G
c.10588C>G (p.Pro3530Ala)
2g.73572462C>TCA347283936ALMS1c.10204C>T (p.Pro3402Ser)
c.3290C>T
c.7485C>T
c.4651C>T (p.Pro1551Ser)
c.7530C>T
c.10585C>T (p.Pro3529Ser)
c.739C>T (p.Pro247Ser)
c.1941C>T
c.1682C>T
c.4076C>T (n.4076C>T)
c.10459C>T (p.Pro3487Ser)
n.4388C>T
c.10588C>T (p.Pro3530Ser)
2g.73572463C>ACA347283939ALMS1c.10205C>A (p.Pro3402His)
c.3291C>A
c.7486C>A
c.4652C>A (p.Pro1551His)
c.7531C>A
c.10586C>A (p.Pro3529His)
c.740C>A (p.Pro247His)
c.1942C>A
c.1683C>A
c.4077C>A (n.4077C>A)
c.10460C>A (p.Pro3487His)
n.4389C>A
c.10589C>A (p.Pro3530His)
2g.73572463C=CA1261021219ALMS1c.10205C= (p.Pro3402=)
c.3291C=
c.7486C=
c.4652C= (p.Pro1551=)
c.7531C=
c.10586C= (p.Pro3529=)
c.740C= (p.Pro247=)
c.1942C=
c.1683C=
c.4077C= (n.4077C=)
c.10460C= (p.Pro3487=)
n.4389C=
c.10589C= (p.Pro3530=)
2g.73572463C>GCA1715031ALMS1c.10205C>G (p.Pro3402Arg)
c.3291C>G
c.7486C>G
c.4652C>G (p.Pro1551Arg)
c.7531C>G
c.10586C>G (p.Pro3529Arg)
c.740C>G (p.Pro247Arg)
c.1942C>G
c.1683C>G
c.4077C>G (n.4077C>G)
c.10460C>G (p.Pro3487Arg)
n.4389C>G
c.10589C>G (p.Pro3530Arg)
 dbSNP ExAC gnomAD v2
2g.73572463C>TCA347283944ALMS1c.10205C>T (p.Pro3402Leu)
c.3291C>T
c.7486C>T
c.4652C>T (p.Pro1551Leu)
c.7531C>T
c.10586C>T (p.Pro3529Leu)
c.740C>T (p.Pro247Leu)
c.1942C>T
c.1683C>T
c.4077C>T (n.4077C>T)
c.10460C>T (p.Pro3487Leu)
n.4389C>T
c.10589C>T (p.Pro3530Leu)
 dbSNP gnomAD v4
2g.73572464T>ACA427024772ALMS1c.10206T>A (p.Pro3402=)
c.3292T>A
c.7487T>A
c.4653T>A (p.Pro1551=)
c.7532T>A
c.10587T>A (p.Pro3529=)
c.741T>A (p.Pro247=)
c.1943T>A
c.1684T>A
c.4078T>A (n.4078T>A)
c.10461T>A (p.Pro3487=)
n.4390T>A
c.10590T>A (p.Pro3530=)
2g.73572464T>CCA427024776ALMS1c.10206T>C (p.Pro3402=)
c.3292T>C
c.7487T>C
c.4653T>C (p.Pro1551=)
c.7532T>C
c.10587T>C (p.Pro3529=)
c.741T>C (p.Pro247=)
c.1943T>C
c.1684T>C
c.4078T>C (n.4078T>C)
c.10461T>C (p.Pro3487=)
n.4390T>C
c.10590T>C (p.Pro3530=)
 dbSNP
2g.73572464T>GCA427024779ALMS1c.10206T>G (p.Pro3402=)
c.3292T>G
c.7487T>G
c.4653T>G (p.Pro1551=)
c.7532T>G
c.10587T>G (p.Pro3529=)
c.741T>G (p.Pro247=)
c.1943T>G
c.1684T>G
c.4078T>G (n.4078T>G)
c.10461T>G (p.Pro3487=)
n.4390T>G
c.10590T>G (p.Pro3530=)
2g.73572464T=CA1261021220ALMS1c.10206T= (p.Pro3402=)
c.3292T=
c.7487T=
c.4653T= (p.Pro1551=)
c.7532T=
c.10587T= (p.Pro3529=)
c.741T= (p.Pro247=)
c.1943T=
c.1684T=
c.4078T= (n.4078T=)
c.10461T= (p.Pro3487=)
n.4390T=
c.10590T= (p.Pro3530=)
2g.73572465C>ACA347283948ALMS1c.10207C>A (p.Leu3403Ile)
c.3293C>A
c.7488C>A
c.4654C>A (p.Leu1552Ile)
c.7533C>A
c.10588C>A (p.Leu3530Ile)
c.742C>A (p.Leu248Ile)
c.1944C>A
c.1685C>A
c.4079C>A (n.4079C>A)
c.10462C>A (p.Leu3488Ile)
n.4391C>A
c.10591C>A (p.Leu3531Ile)
2g.73572465C=CA1261021221ALMS1c.10207C= (p.Leu3403=)
c.3293C=
c.7488C=
c.4654C= (p.Leu1552=)
c.7533C=
c.10588C= (p.Leu3530=)
c.742C= (p.Leu248=)
c.1944C=
c.1685C=
c.4079C= (n.4079C=)
c.10462C= (p.Leu3488=)
n.4391C=
c.10591C= (p.Leu3531=)
2g.73572465C>GCA347283951ALMS1c.10207C>G (p.Leu3403Val)
c.3293C>G
c.7488C>G
c.4654C>G (p.Leu1552Val)
c.7533C>G
c.10588C>G (p.Leu3530Val)
c.742C>G (p.Leu248Val)
c.1944C>G
c.1685C>G
c.4079C>G (n.4079C>G)
c.10462C>G (p.Leu3488Val)
n.4391C>G
c.10591C>G (p.Leu3531Val)
 ClinVar
2g.73572465C>TCA1715032ALMS1c.10207C>T (p.Leu3403Phe)
c.3293C>T
c.7488C>T
c.4654C>T (p.Leu1552Phe)
c.7533C>T
c.10588C>T (p.Leu3530Phe)
c.742C>T (p.Leu248Phe)
c.1944C>T
c.1685C>T
c.4079C>T (n.4079C>T)
c.10462C>T (p.Leu3488Phe)
n.4391C>T
c.10591C>T (p.Leu3531Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572468_73572471delCA2739271094ALMS1c.10210_10213del (p.Pro3404IlefsTer14)
c.3296_3299del
c.7491_7494del
c.4657_4660del (p.Pro1553IlefsTer14)
c.7536_7539del
c.10591_10594del (p.Pro3531IlefsTer14)
c.745_748del (p.Pro249IlefsTer14)
c.1947_1950del
c.1688_1691del
c.4082_4085del (n.4082_4085del)
c.10465_10468del (p.Pro3489IlefsTer14)
n.4394_4397del
c.10594_10597del (p.Pro3532IlefsTer14)
 ClinVar
2g.73572466T>ACA347283963ALMS1c.10208T>A (p.Leu3403His)
c.3294T>A
c.7489T>A
c.4655T>A (p.Leu1552His)
c.7534T>A
c.10589T>A (p.Leu3530His)
c.743T>A (p.Leu248His)
c.1945T>A
c.1686T>A
c.4080T>A (n.4080T>A)
c.10463T>A (p.Leu3488His)
n.4392T>A
c.10592T>A (p.Leu3531His)
2g.73572466T>CCA347283960ALMS1c.10208T>C (p.Leu3403Pro)
c.3294T>C
c.7489T>C
c.4655T>C (p.Leu1552Pro)
c.7534T>C
c.10589T>C (p.Leu3530Pro)
c.743T>C (p.Leu248Pro)
c.1945T>C
c.1686T>C
c.4080T>C (n.4080T>C)
c.10463T>C (p.Leu3488Pro)
n.4392T>C
c.10592T>C (p.Leu3531Pro)
2g.73572466T>GCA347283956ALMS1c.10208T>G (p.Leu3403Arg)
c.3294T>G
c.7489T>G
c.4655T>G (p.Leu1552Arg)
c.7534T>G
c.10589T>G (p.Leu3530Arg)
c.743T>G (p.Leu248Arg)
c.1945T>G
c.1686T>G
c.4080T>G (n.4080T>G)
c.10463T>G (p.Leu3488Arg)
n.4392T>G
c.10592T>G (p.Leu3531Arg)
2g.73572467T>ACA427024787ALMS1c.10209T>A (p.Leu3403=)
c.3295T>A
c.7490T>A
c.4656T>A (p.Leu1552=)
c.7535T>A
c.10590T>A (p.Leu3530=)
c.744T>A (p.Leu248=)
c.1946T>A
c.1687T>A
c.4081T>A (n.4081T>A)
c.10464T>A (p.Leu3488=)
n.4393T>A
c.10593T>A (p.Leu3531=)
2g.73572467T>CCA1715033ALMS1c.10209T>C (p.Leu3403=)
c.3295T>C
c.7490T>C
c.4656T>C (p.Leu1552=)
c.7535T>C
c.10590T>C (p.Leu3530=)
c.744T>C (p.Leu248=)
c.1946T>C
c.1687T>C
c.4081T>C (n.4081T>C)
c.10464T>C (p.Leu3488=)
n.4393T>C
c.10593T>C (p.Leu3531=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572467T>GCA427024788ALMS1c.10209T>G (p.Leu3403=)
c.3295T>G
c.7490T>G
c.4656T>G (p.Leu1552=)
c.7535T>G
c.10590T>G (p.Leu3530=)
c.744T>G (p.Leu248=)
c.1946T>G
c.1687T>G
c.4081T>G (n.4081T>G)
c.10464T>G (p.Leu3488=)
n.4393T>G
c.10593T>G (p.Leu3531=)
 gnomAD v4
2g.73572467T=CA1261021224ALMS1c.10209T= (p.Leu3403=)
c.3295T=
c.7490T=
c.4656T= (p.Leu1552=)
c.7535T=
c.10590T= (p.Leu3530=)
c.744T= (p.Leu248=)
c.1946T=
c.1687T=
c.4081T= (n.4081T=)
c.10464T= (p.Leu3488=)
n.4393T=
c.10593T= (p.Leu3531=)
2g.73572468C>ACA347283972ALMS1c.10210C>A (p.Pro3404Thr)
c.3296C>A
c.7491C>A
c.4657C>A (p.Pro1553Thr)
c.7536C>A
c.10591C>A (p.Pro3531Thr)
c.745C>A (p.Pro249Thr)
c.1947C>A
c.1688C>A
c.4082C>A (n.4082C>A)
c.10465C>A (p.Pro3489Thr)
n.4394C>A
c.10594C>A (p.Pro3532Thr)
2g.73572468C=CA1261021228ALMS1c.10210C= (p.Pro3404=)
c.3296C=
c.7491C=
c.4657C= (p.Pro1553=)
c.7536C=
c.10591C= (p.Pro3531=)
c.745C= (p.Pro249=)
c.1947C=
c.1688C=
c.4082C= (n.4082C=)
c.10465C= (p.Pro3489=)
n.4394C=
c.10594C= (p.Pro3532=)
2g.73572468C>GCA347283975ALMS1c.10210C>G (p.Pro3404Ala)
c.3296C>G
c.7491C>G
c.4657C>G (p.Pro1553Ala)
c.7536C>G
c.10591C>G (p.Pro3531Ala)
c.745C>G (p.Pro249Ala)
c.1947C>G
c.1688C>G
c.4082C>G (n.4082C>G)
c.10465C>G (p.Pro3489Ala)
n.4394C>G
c.10594C>G (p.Pro3532Ala)
2g.73572468C>TCA347283978ALMS1c.10210C>T (p.Pro3404Ser)
c.3296C>T
c.7491C>T
c.4657C>T (p.Pro1553Ser)
c.7536C>T
c.10591C>T (p.Pro3531Ser)
c.745C>T (p.Pro249Ser)
c.1947C>T
c.1688C>T
c.4082C>T (n.4082C>T)
c.10465C>T (p.Pro3489Ser)
n.4394C>T
c.10594C>T (p.Pro3532Ser)
 dbSNP
2g.73572469C>ACA347283982ALMS1c.10211C>A (p.Pro3404His)
c.3297C>A
c.7492C>A
c.4658C>A (p.Pro1553His)
c.7537C>A
c.10592C>A (p.Pro3531His)
c.746C>A (p.Pro249His)
c.1948C>A
c.1689C>A
c.4083C>A (n.4083C>A)
c.10466C>A (p.Pro3489His)
n.4395C>A
c.10595C>A (p.Pro3532His)
2g.73572469C>GCA347283983ALMS1c.10211C>G (p.Pro3404Arg)
c.3297C>G
c.7492C>G
c.4658C>G (p.Pro1553Arg)
c.7537C>G
c.10592C>G (p.Pro3531Arg)
c.746C>G (p.Pro249Arg)
c.1948C>G
c.1689C>G
c.4083C>G (n.4083C>G)
c.10466C>G (p.Pro3489Arg)
n.4395C>G
c.10595C>G (p.Pro3532Arg)
 ClinVar dbSNP
2g.73572469C>TCA347283988ALMS1c.10211C>T (p.Pro3404Leu)
c.3297C>T
c.7492C>T
c.4658C>T (p.Pro1553Leu)
c.7537C>T
c.10592C>T (p.Pro3531Leu)
c.746C>T (p.Pro249Leu)
c.1948C>T
c.1689C>T
c.4083C>T (n.4083C>T)
c.10466C>T (p.Pro3489Leu)
n.4395C>T
c.10595C>T (p.Pro3532Leu)
2g.73572470T>ACA427024796ALMS1c.10212T>A (p.Pro3404=)
c.3298T>A
c.7493T>A
c.4659T>A (p.Pro1553=)
c.7538T>A
c.10593T>A (p.Pro3531=)
c.747T>A (p.Pro249=)
c.1949T>A
c.1690T>A
c.4084T>A (n.4084T>A)
c.10467T>A (p.Pro3489=)
n.4396T>A
c.10596T>A (p.Pro3532=)
2g.73572470T>CCA427024799ALMS1c.10212T>C (p.Pro3404=)
c.3298T>C
c.7493T>C
c.4659T>C (p.Pro1553=)
c.7538T>C
c.10593T>C (p.Pro3531=)
c.747T>C (p.Pro249=)
c.1949T>C
c.1690T>C
c.4084T>C (n.4084T>C)
c.10467T>C (p.Pro3489=)
n.4396T>C
c.10596T>C (p.Pro3532=)
2g.73572470T>GCA427024801ALMS1c.10212T>G (p.Pro3404=)
c.3298T>G
c.7493T>G
c.4659T>G (p.Pro1553=)
c.7538T>G
c.10593T>G (p.Pro3531=)
c.747T>G (p.Pro249=)
c.1949T>G
c.1690T>G
c.4084T>G (n.4084T>G)
c.10467T>G (p.Pro3489=)
n.4396T>G
c.10596T>G (p.Pro3532=)
2g.73572471T>ACA347283989ALMS1c.10213T>A (p.Tyr3405Asn)
c.3299T>A
c.7494T>A
c.4660T>A (p.Tyr1554Asn)
c.7539T>A
c.10594T>A (p.Tyr3532Asn)
c.748T>A (p.Tyr250Asn)
c.1950T>A
c.1691T>A
c.4085T>A (n.4085T>A)
c.10468T>A (p.Tyr3490Asn)
n.4397T>A
c.10597T>A (p.Tyr3533Asn)
 dbSNP
2g.73572471T>CCA347283990ALMS1c.10213T>C (p.Tyr3405His)
c.3299T>C
c.7494T>C
c.4660T>C (p.Tyr1554His)
c.7539T>C
c.10594T>C (p.Tyr3532His)
c.748T>C (p.Tyr250His)
c.1950T>C
c.1691T>C
c.4085T>C (n.4085T>C)
c.10468T>C (p.Tyr3490His)
n.4397T>C
c.10597T>C (p.Tyr3533His)
2g.73572471T>GCA347283992ALMS1c.10213T>G (p.Tyr3405Asp)
c.3299T>G
c.7494T>G
c.4660T>G (p.Tyr1554Asp)
c.7539T>G
c.10594T>G (p.Tyr3532Asp)
c.748T>G (p.Tyr250Asp)
c.1950T>G
c.1691T>G
c.4085T>G (n.4085T>G)
c.10468T>G (p.Tyr3490Asp)
n.4397T>G
c.10597T>G (p.Tyr3533Asp)
2g.73572471T=CA1261021229ALMS1c.10213T= (p.Tyr3405=)
c.3299T=
c.7494T=
c.4660T= (p.Tyr1554=)
c.7539T=
c.10594T= (p.Tyr3532=)
c.748T= (p.Tyr250=)
c.1950T=
c.1691T=
c.4085T= (n.4085T=)
c.10468T= (p.Tyr3490=)
n.4397T=
c.10597T= (p.Tyr3533=)
2g.73572472A>CCA347283995ALMS1c.10214A>C (p.Tyr3405Ser)
c.3300A>C
c.7495A>C
c.4661A>C (p.Tyr1554Ser)
c.7540A>C
c.10595A>C (p.Tyr3532Ser)
c.749A>C (p.Tyr250Ser)
c.1951A>C
c.1692A>C
c.4086A>C (n.4086A>C)
c.10469A>C (p.Tyr3490Ser)
n.4398A>C
c.10598A>C (p.Tyr3533Ser)
2g.73572472A>GCA347283998ALMS1c.10214A>G (p.Tyr3405Cys)
c.3300A>G
c.7495A>G
c.4661A>G (p.Tyr1554Cys)
c.7540A>G
c.10595A>G (p.Tyr3532Cys)
c.749A>G (p.Tyr250Cys)
c.1951A>G
c.1692A>G
c.4086A>G (n.4086A>G)
c.10469A>G (p.Tyr3490Cys)
n.4398A>G
c.10598A>G (p.Tyr3533Cys)
 gnomAD v4
2g.73572472A>TCA347284001ALMS1c.10214A>T (p.Tyr3405Phe)
c.3300A>T
c.7495A>T
c.4661A>T (p.Tyr1554Phe)
c.7540A>T
c.10595A>T (p.Tyr3532Phe)
c.749A>T (p.Tyr250Phe)
c.1951A>T
c.1692A>T
c.4086A>T (n.4086A>T)
c.10469A>T (p.Tyr3490Phe)
n.4398A>T
c.10598A>T (p.Tyr3533Phe)
2g.73572473T>ACA347284011ALMS1c.10215T>A (p.Tyr3405Ter)
c.3301T>A
c.7496T>A
c.4662T>A (p.Tyr1554Ter)
c.7541T>A
c.10596T>A (p.Tyr3532Ter)
c.750T>A (p.Tyr250Ter)
c.1952T>A
c.1693T>A
c.4087T>A (n.4087T>A)
c.10470T>A (p.Tyr3490Ter)
n.4399T>A
c.10599T>A (p.Tyr3533Ter)
 gnomAD v4
2g.73572473T>CCA427024807ALMS1c.10215T>C (p.Tyr3405=)
c.3301T>C
c.7496T>C
c.4662T>C (p.Tyr1554=)
c.7541T>C
c.10596T>C (p.Tyr3532=)
c.750T>C (p.Tyr250=)
c.1952T>C
c.1693T>C
c.4087T>C (n.4087T>C)
c.10470T>C (p.Tyr3490=)
n.4399T>C
c.10599T>C (p.Tyr3533=)
2g.73572473T>GCA347284007ALMS1c.10215T>G (p.Tyr3405Ter)
c.3301T>G
c.7496T>G
c.4662T>G (p.Tyr1554Ter)
c.7541T>G
c.10596T>G (p.Tyr3532Ter)
c.750T>G (p.Tyr250Ter)
c.1952T>G
c.1693T>G
c.4087T>G (n.4087T>G)
c.10470T>G (p.Tyr3490Ter)
n.4399T>G
c.10599T>G (p.Tyr3533Ter)
2g.73572474C>ACA347284015ALMS1c.10216C>A (p.Gln3406Lys)
c.3302C>A
c.7497C>A
c.4663C>A (p.Gln1555Lys)
c.7542C>A
c.10597C>A (p.Gln3533Lys)
c.751C>A (p.Gln251Lys)
c.1953C>A
c.1694C>A
c.4088C>A (n.4088C>A)
c.10471C>A (p.Gln3491Lys)
n.4400C>A
c.10600C>A (p.Gln3534Lys)
2g.73572474C>GCA347284018ALMS1c.10216C>G (p.Gln3406Glu)
c.3302C>G
c.7497C>G
c.4663C>G (p.Gln1555Glu)
c.7542C>G
c.10597C>G (p.Gln3533Glu)
c.751C>G (p.Gln251Glu)
c.1953C>G
c.1694C>G
c.4088C>G (n.4088C>G)
c.10471C>G (p.Gln3491Glu)
n.4400C>G
c.10600C>G (p.Gln3534Glu)
2g.73572474C>TCA347284017ALMS1c.10216C>T (p.Gln3406Ter)
c.3302C>T
c.7497C>T
c.4663C>T (p.Gln1555Ter)
c.7542C>T
c.10597C>T (p.Gln3533Ter)
c.751C>T (p.Gln251Ter)
c.1953C>T
c.1694C>T
c.4088C>T (n.4088C>T)
c.10471C>T (p.Gln3491Ter)
n.4400C>T
c.10600C>T (p.Gln3534Ter)
2g.73572475A=CA1261021230ALMS1c.10217A= (p.Gln3406=)
c.3303A=
c.7498A=
c.4664A= (p.Gln1555=)
c.7543A=
c.10598A= (p.Gln3533=)
c.752A= (p.Gln251=)
c.1954A=
c.1695A=
c.4089A= (n.4089A=)
c.10472A= (p.Gln3491=)
n.4401A=
c.10601A= (p.Gln3534=)
2g.73572475A>CCA347284025ALMS1c.10217A>C (p.Gln3406Pro)
c.3303A>C
c.7498A>C
c.4664A>C (p.Gln1555Pro)
c.7543A>C
c.10598A>C (p.Gln3533Pro)
c.752A>C (p.Gln251Pro)
c.1954A>C
c.1695A>C
c.4089A>C (n.4089A>C)
c.10472A>C (p.Gln3491Pro)
n.4401A>C
c.10601A>C (p.Gln3534Pro)
2g.73572475A>GCA347284032ALMS1c.10217A>G (p.Gln3406Arg)
c.3303A>G
c.7498A>G
c.4664A>G (p.Gln1555Arg)
c.7543A>G
c.10598A>G (p.Gln3533Arg)
c.752A>G (p.Gln251Arg)
c.1954A>G
c.1695A>G
c.4089A>G (n.4089A>G)
c.10472A>G (p.Gln3491Arg)
n.4401A>G
c.10601A>G (p.Gln3534Arg)
 dbSNP
2g.73572475A>TCA347284028ALMS1c.10217A>T (p.Gln3406Leu)
c.3303A>T
c.7498A>T
c.4664A>T (p.Gln1555Leu)
c.7543A>T
c.10598A>T (p.Gln3533Leu)
c.752A>T (p.Gln251Leu)
c.1954A>T
c.1695A>T
c.4089A>T (n.4089A>T)
c.10472A>T (p.Gln3491Leu)
n.4401A>T
c.10601A>T (p.Gln3534Leu)
2g.73572476A>CCA347284039ALMS1c.10218A>C (p.Gln3406His)
c.3304A>C
c.7499A>C
c.4665A>C (p.Gln1555His)
c.7544A>C
c.10599A>C (p.Gln3533His)
c.753A>C (p.Gln251His)
c.1955A>C
c.1696A>C
c.4090A>C (n.4090A>C)
c.10473A>C (p.Gln3491His)
n.4402A>C
c.10602A>C (p.Gln3534His)
2g.73572476A>GCA427024817ALMS1c.10218A>G (p.Gln3406=)
c.3304A>G
c.7499A>G
c.4665A>G (p.Gln1555=)
c.7544A>G
c.10599A>G (p.Gln3533=)
c.753A>G (p.Gln251=)
c.1955A>G
c.1696A>G
c.4090A>G (n.4090A>G)
c.10473A>G (p.Gln3491=)
n.4402A>G
c.10602A>G (p.Gln3534=)
2g.73572476A>TCA347284041ALMS1c.10218A>T (p.Gln3406His)
c.3304A>T
c.7499A>T
c.4665A>T (p.Gln1555His)
c.7544A>T
c.10599A>T (p.Gln3533His)
c.753A>T (p.Gln251His)
c.1955A>T
c.1696A>T
c.4090A>T (n.4090A>T)
c.10473A>T (p.Gln3491His)
n.4402A>T
c.10602A>T (p.Gln3534His)
2g.73572481_73572546delCA2659617091ALMS1c.10223_10288del (p.Met3408_Asn3429del)
c.3309_3374del
c.7504_7569del
c.4670_4735del (p.Met1557_Asn1578del)
c.7549_7614del
c.10604_10669del (p.Met3535_Asn3556del)
c.758_823del (p.Met253_Asn274del)
c.1960_2025del
c.1701_1766del
c.4095_4160del (n.4095_4160del)
c.10478_10543del (p.Met3493_Asn3514del)
n.4407_4472del
c.10607_10672del (p.Met3536_Asn3557del)
 gnomAD v4
2g.73572477A>CCA347284042ALMS1c.10219A>C (p.Asn3407His)
c.3305A>C
c.7500A>C
c.4666A>C (p.Asn1556His)
c.7545A>C
c.10600A>C (p.Asn3534His)
c.754A>C (p.Asn252His)
c.1956A>C
c.1697A>C
c.4091A>C (n.4091A>C)
c.10474A>C (p.Asn3492His)
n.4403A>C
c.10603A>C (p.Asn3535His)
2g.73572477A>GCA347284044ALMS1c.10219A>G (p.Asn3407Asp)
c.3305A>G
c.7500A>G
c.4666A>G (p.Asn1556Asp)
c.7545A>G
c.10600A>G (p.Asn3534Asp)
c.754A>G (p.Asn252Asp)
c.1956A>G
c.1697A>G
c.4091A>G (n.4091A>G)
c.10474A>G (p.Asn3492Asp)
n.4403A>G
c.10603A>G (p.Asn3535Asp)
2g.73572477A>TCA347284045ALMS1c.10219A>T (p.Asn3407Tyr)
c.3305A>T
c.7500A>T
c.4666A>T (p.Asn1556Tyr)
c.7545A>T
c.10600A>T (p.Asn3534Tyr)
c.754A>T (p.Asn252Tyr)
c.1956A>T
c.1697A>T
c.4091A>T (n.4091A>T)
c.10474A>T (p.Asn3492Tyr)
n.4403A>T
c.10603A>T (p.Asn3535Tyr)
2g.73572478A>CCA347284048ALMS1c.10220A>C (p.Asn3407Thr)
c.3306A>C
c.7501A>C
c.4667A>C (p.Asn1556Thr)
c.7546A>C
c.10601A>C (p.Asn3534Thr)
c.755A>C (p.Asn252Thr)
c.1957A>C
c.1698A>C
c.4092A>C (n.4092A>C)
c.10475A>C (p.Asn3492Thr)
n.4404A>C
c.10604A>C (p.Asn3535Thr)
2g.73572478A>GCA347284052ALMS1c.10220A>G (p.Asn3407Ser)
c.3306A>G
c.7501A>G
c.4667A>G (p.Asn1556Ser)
c.7546A>G
c.10601A>G (p.Asn3534Ser)
c.755A>G (p.Asn252Ser)
c.1957A>G
c.1698A>G
c.4092A>G (n.4092A>G)
c.10475A>G (p.Asn3492Ser)
n.4404A>G
c.10604A>G (p.Asn3535Ser)
2g.73572478A>TCA347284055ALMS1c.10220A>T (p.Asn3407Ile)
c.3306A>T
c.7501A>T
c.4667A>T (p.Asn1556Ile)
c.7546A>T
c.10601A>T (p.Asn3534Ile)
c.755A>T (p.Asn252Ile)
c.1957A>T
c.1698A>T
c.4092A>T (n.4092A>T)
c.10475A>T (p.Asn3492Ile)
n.4404A>T
c.10604A>T (p.Asn3535Ile)
2g.73572479C>ACA347284059ALMS1c.10221C>A (p.Asn3407Lys)
c.3307C>A
c.7502C>A
c.4668C>A (p.Asn1556Lys)
c.7547C>A
c.10602C>A (p.Asn3534Lys)
c.756C>A (p.Asn252Lys)
c.1958C>A
c.1699C>A
c.4093C>A (n.4093C>A)
c.10476C>A (p.Asn3492Lys)
n.4405C>A
c.10605C>A (p.Asn3535Lys)
2g.73572479C>GCA347284062ALMS1c.10221C>G (p.Asn3407Lys)
c.3307C>G
c.7502C>G
c.4668C>G (p.Asn1556Lys)
c.7547C>G
c.10602C>G (p.Asn3534Lys)
c.756C>G (p.Asn252Lys)
c.1958C>G
c.1699C>G
c.4093C>G (n.4093C>G)
c.10476C>G (p.Asn3492Lys)
n.4405C>G
c.10605C>G (p.Asn3535Lys)
 gnomAD v4
2g.73572479C>TCA427024822ALMS1c.10221C>T (p.Asn3407=)
c.3307C>T
c.7502C>T
c.4668C>T (p.Asn1556=)
c.7547C>T
c.10602C>T (p.Asn3534=)
c.756C>T (p.Asn252=)
c.1958C>T
c.1699C>T
c.4093C>T (n.4093C>T)
c.10476C>T (p.Asn3492=)
n.4405C>T
c.10605C>T (p.Asn3535=)
 ClinVar gnomAD v4
2g.73572480A=CA1261021231ALMS1c.10222A= (p.Met3408=)
c.3308A=
c.7503A=
c.4669A= (p.Met1557=)
c.7548A=
c.10603A= (p.Met3535=)
c.757A= (p.Met253=)
c.1959A=
c.1700A=
c.4094A= (n.4094A=)
c.10477A= (p.Met3493=)
n.4406A=
c.10606A= (p.Met3536=)
2g.73572480A>CCA347284074ALMS1c.10222A>C (p.Met3408Leu)
c.3308A>C
c.7503A>C
c.4669A>C (p.Met1557Leu)
c.7548A>C
c.10603A>C (p.Met3535Leu)
c.757A>C (p.Met253Leu)
c.1959A>C
c.1700A>C
c.4094A>C (n.4094A>C)
c.10477A>C (p.Met3493Leu)
n.4406A>C
c.10606A>C (p.Met3536Leu)
2g.73572480A>GCA347284071ALMS1c.10222A>G (p.Met3408Val)
c.3308A>G
c.7503A>G
c.4669A>G (p.Met1557Val)
c.7548A>G
c.10603A>G (p.Met3535Val)
c.757A>G (p.Met253Val)
c.1959A>G
c.1700A>G
c.4094A>G (n.4094A>G)
c.10477A>G (p.Met3493Val)
n.4406A>G
c.10606A>G (p.Met3536Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572480A>TCA1715034ALMS1c.10222A>T (p.Met3408Leu)
c.3308A>T
c.7503A>T
c.4669A>T (p.Met1557Leu)
c.7548A>T
c.10603A>T (p.Met3535Leu)
c.757A>T (p.Met253Leu)
c.1959A>T
c.1700A>T
c.4094A>T (n.4094A>T)
c.10477A>T (p.Met3493Leu)
n.4406A>T
c.10606A>T (p.Met3536Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572481T>ACA347284085ALMS1c.10223T>A (p.Met3408Lys)
c.3309T>A
c.7504T>A
c.4670T>A (p.Met1557Lys)
c.7549T>A
c.10604T>A (p.Met3535Lys)
c.758T>A (p.Met253Lys)
c.1960T>A
c.1701T>A
c.4095T>A (n.4095T>A)
c.10478T>A (p.Met3493Lys)
n.4407T>A
c.10607T>A (p.Met3536Lys)
2g.73572481T>CCA347284087ALMS1c.10223T>C (p.Met3408Thr)
c.3309T>C
c.7504T>C
c.4670T>C (p.Met1557Thr)
c.7549T>C
c.10604T>C (p.Met3535Thr)
c.758T>C (p.Met253Thr)
c.1960T>C
c.1701T>C
c.4095T>C (n.4095T>C)
c.10478T>C (p.Met3493Thr)
n.4407T>C
c.10607T>C (p.Met3536Thr)
 gnomAD v4
2g.73572481T>GCA347284089ALMS1c.10223T>G (p.Met3408Arg)
c.3309T>G
c.7504T>G
c.4670T>G (p.Met1557Arg)
c.7549T>G
c.10604T>G (p.Met3535Arg)
c.758T>G (p.Met253Arg)
c.1960T>G
c.1701T>G
c.4095T>G (n.4095T>G)
c.10478T>G (p.Met3493Arg)
n.4407T>G
c.10607T>G (p.Met3536Arg)
2g.73572482G>ACA347284093ALMS1c.10224G>A (p.Met3408Ile)
c.3310G>A
c.7505G>A
c.4671G>A (p.Met1557Ile)
c.7550G>A
c.10605G>A (p.Met3535Ile)
c.759G>A (p.Met253Ile)
c.1961G>A
c.1702G>A
c.4096G>A (n.4096G>A)
c.10479G>A (p.Met3493Ile)
n.4408G>A
c.10608G>A (p.Met3536Ile)
 ClinVar
2g.73572482G>CCA347284096ALMS1c.10224G>C (p.Met3408Ile)
c.3310G>C
c.7505G>C
c.4671G>C (p.Met1557Ile)
c.7550G>C
c.10605G>C (p.Met3535Ile)
c.759G>C (p.Met253Ile)
c.1961G>C
c.1702G>C
c.4096G>C (n.4096G>C)
c.10479G>C (p.Met3493Ile)
n.4408G>C
c.10608G>C (p.Met3536Ile)
2g.73572482G>TCA347284099ALMS1c.10224G>T (p.Met3408Ile)
c.3310G>T
c.7505G>T
c.4671G>T (p.Met1557Ile)
c.7550G>T
c.10605G>T (p.Met3535Ile)
c.759G>T (p.Met253Ile)
c.1961G>T
c.1702G>T
c.4096G>T (n.4096G>T)
c.10479G>T (p.Met3493Ile)
n.4408G>T
c.10608G>T (p.Met3536Ile)
2g.73572483delCA2659617096ALMS1c.10225del (p.Asp3409ThrfsTer10)
c.3311del
c.7506del
c.4672del (p.Asp1558ThrfsTer10)
c.7551del
c.10606del (p.Asp3536ThrfsTer10)
c.760del (p.Asp254ThrfsTer10)
c.1962del
c.1703del
c.4097del (n.4097del)
c.10480del (p.Asp3494ThrfsTer10)
n.4409del
c.10609del (p.Asp3537ThrfsTer10)
 gnomAD v4
2g.73572483G>ACA347284102ALMS1c.10225G>A (p.Asp3409Asn)
c.3311G>A
c.7506G>A
c.4672G>A (p.Asp1558Asn)
c.7551G>A
c.10606G>A (p.Asp3536Asn)
c.760G>A (p.Asp254Asn)
c.1962G>A
c.1703G>A
c.4097G>A (n.4097G>A)
c.10480G>A (p.Asp3494Asn)
n.4409G>A
c.10609G>A (p.Asp3537Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.73572483G>CCA347284103ALMS1c.10225G>C (p.Asp3409His)
c.3311G>C
c.7506G>C
c.4672G>C (p.Asp1558His)
c.7551G>C
c.10606G>C (p.Asp3536His)
c.760G>C (p.Asp254His)
c.1962G>C
c.1703G>C
c.4097G>C (n.4097G>C)
c.10480G>C (p.Asp3494His)
n.4409G>C
c.10609G>C (p.Asp3537His)
2g.73572483G=CA1261021232ALMS1c.10225G= (p.Asp3409=)
c.3311G=
c.7506G=
c.4672G= (p.Asp1558=)
c.7551G=
c.10606G= (p.Asp3536=)
c.760G= (p.Asp254=)
c.1962G=
c.1703G=
c.4097G= (n.4097G=)
c.10480G= (p.Asp3494=)
n.4409G=
c.10609G= (p.Asp3537=)
2g.73572483G>TCA347284107ALMS1c.10225G>T (p.Asp3409Tyr)
c.3311G>T
c.7506G>T
c.4672G>T (p.Asp1558Tyr)
c.7551G>T
c.10606G>T (p.Asp3536Tyr)
c.760G>T (p.Asp254Tyr)
c.1962G>T
c.1703G>T
c.4097G>T (n.4097G>T)
c.10480G>T (p.Asp3494Tyr)
n.4409G>T
c.10609G>T (p.Asp3537Tyr)
 gnomAD v4
2g.73572483_73572484delinsTCA2586964941ALMS1c.10225_10226delinsT (p.Asp3409SerfsTer10)
c.3311_3312delinsT
c.7506_7507delinsT
c.4672_4673delinsT (p.Asp1558SerfsTer10)
c.7551_7552delinsT
c.10606_10607delinsT (p.Asp3536SerfsTer10)
c.760_761delinsT (p.Asp254SerfsTer10)
c.1962_1963delinsT
c.1703_1704delinsT
c.4097_4098delinsT (n.4097_4098delinsT)
c.10480_10481delinsT (p.Asp3494SerfsTer10)
n.4409_4410delinsT
c.10609_10610delinsT (p.Asp3537SerfsTer10)
2g.73572483_73572488delinsTCAAACA2586964942ALMS1c.10225_10230delinsTCAAA (p.Asp3409SerfsTer10)
c.3311_3316delinsTCAAA
c.7506_7511delinsTCAAA
c.4672_4677delinsTCAAA (p.Asp1558SerfsTer10)
c.7551_7556delinsTCAAA
c.10606_10611delinsTCAAA (p.Asp3536SerfsTer10)
c.760_765delinsTCAAA (p.Asp254SerfsTer10)
c.1962_1967delinsTCAAA
c.1703_1708delinsTCAAA
c.4097_4102delinsTCAAA (n.4097_4102delinsTCAAA)
c.10480_10485delinsTCAAA (p.Asp3494SerfsTer10)
n.4409_4414delinsTCAAA
c.10609_10614delinsTCAAA (p.Asp3537SerfsTer10)
2g.73572484A>CCA347284108ALMS1c.10226A>C (p.Asp3409Ala)
c.3312A>C
c.7507A>C
c.4673A>C (p.Asp1558Ala)
c.7552A>C
c.10607A>C (p.Asp3536Ala)
c.761A>C (p.Asp254Ala)
c.1963A>C
c.1704A>C
c.4098A>C (n.4098A>C)
c.10481A>C (p.Asp3494Ala)
n.4410A>C
c.10610A>C (p.Asp3537Ala)
2g.73572484A>GCA347284109ALMS1c.10226A>G (p.Asp3409Gly)
c.3312A>G
c.7507A>G
c.4673A>G (p.Asp1558Gly)
c.7552A>G
c.10607A>G (p.Asp3536Gly)
c.761A>G (p.Asp254Gly)
c.1963A>G
c.1704A>G
c.4098A>G (n.4098A>G)
c.10481A>G (p.Asp3494Gly)
n.4410A>G
c.10610A>G (p.Asp3537Gly)
 ClinVar
2g.73572484A>TCA347284110ALMS1c.10226A>T (p.Asp3409Val)
c.3312A>T
c.7507A>T
c.4673A>T (p.Asp1558Val)
c.7552A>T
c.10607A>T (p.Asp3536Val)
c.761A>T (p.Asp254Val)
c.1963A>T
c.1704A>T
c.4098A>T (n.4098A>T)
c.10481A>T (p.Asp3494Val)
n.4410A>T
c.10610A>T (p.Asp3537Val)
 gnomAD v4
2g.73572485C>ACA347284113ALMS1c.10227C>A (p.Asp3409Glu)
c.3313C>A
c.7508C>A
c.4674C>A (p.Asp1558Glu)
c.7553C>A
c.10608C>A (p.Asp3536Glu)
c.762C>A (p.Asp254Glu)
c.1964C>A
c.1705C>A
c.4099C>A (n.4099C>A)
c.10482C>A (p.Asp3494Glu)
n.4411C>A
c.10611C>A (p.Asp3537Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.73572485C=CA1261021233ALMS1c.10227C= (p.Asp3409=)
c.3313C=
c.7508C=
c.4674C= (p.Asp1558=)
c.7553C=
c.10608C= (p.Asp3536=)
c.762C= (p.Asp254=)
c.1964C=
c.1705C=
c.4099C= (n.4099C=)
c.10482C= (p.Asp3494=)
n.4411C=
c.10611C= (p.Asp3537=)
2g.73572485C>GCA50386294ALMS1c.10227C>G (p.Asp3409Glu)
c.3313C>G
c.7508C>G
c.4674C>G (p.Asp1558Glu)
c.7553C>G
c.10608C>G (p.Asp3536Glu)
c.762C>G (p.Asp254Glu)
c.1964C>G
c.1705C>G
c.4099C>G (n.4099C>G)
c.10482C>G (p.Asp3494Glu)
n.4411C>G
c.10611C>G (p.Asp3537Glu)
 dbSNP gnomAD v4
2g.73572485C>TCA1715035ALMS1c.10227C>T (p.Asp3409=)
c.3313C>T
c.7508C>T
c.4674C>T (p.Asp1558=)
c.7553C>T
c.10608C>T (p.Asp3536=)
c.762C>T (p.Asp254=)
c.1964C>T
c.1705C>T
c.4099C>T (n.4099C>T)
c.10482C>T (p.Asp3494=)
n.4411C>T
c.10611C>T (p.Asp3537=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572486A>CCA347284120ALMS1c.10228A>C (p.Lys3410Gln)
c.3314A>C
c.7509A>C
c.4675A>C (p.Lys1559Gln)
c.7554A>C
c.10609A>C (p.Lys3537Gln)
c.763A>C (p.Lys255Gln)
c.1965A>C
c.1706A>C
c.4100A>C (n.4100A>C)
c.10483A>C (p.Lys3495Gln)
n.4412A>C
c.10612A>C (p.Lys3538Gln)
2g.73572486A>GCA347284123ALMS1c.10228A>G (p.Lys3410Glu)
c.3314A>G
c.7509A>G
c.4675A>G (p.Lys1559Glu)
c.7554A>G
c.10609A>G (p.Lys3537Glu)
c.763A>G (p.Lys255Glu)
c.1965A>G
c.1706A>G
c.4100A>G (n.4100A>G)
c.10483A>G (p.Lys3495Glu)
n.4412A>G
c.10612A>G (p.Lys3538Glu)
2g.73572486A>TCA347284128ALMS1c.10228A>T (p.Lys3410Ter)
c.3314A>T
c.7509A>T
c.4675A>T (p.Lys1559Ter)
c.7554A>T
c.10609A>T (p.Lys3537Ter)
c.763A>T (p.Lys255Ter)
c.1965A>T
c.1706A>T
c.4100A>T (n.4100A>T)
c.10483A>T (p.Lys3495Ter)
n.4412A>T
c.10612A>T (p.Lys3538Ter)
2g.73572487A>CCA347284133ALMS1c.10229A>C (p.Lys3410Thr)
c.3315A>C
c.7510A>C
c.4676A>C (p.Lys1559Thr)
c.7555A>C
c.10610A>C (p.Lys3537Thr)
c.764A>C (p.Lys255Thr)
c.1966A>C
c.1707A>C
c.4101A>C (n.4101A>C)
c.10484A>C (p.Lys3495Thr)
n.4413A>C
c.10613A>C (p.Lys3538Thr)
2g.73572487A>GCA347284136ALMS1c.10229A>G (p.Lys3410Arg)
c.3315A>G
c.7510A>G
c.4676A>G (p.Lys1559Arg)
c.7555A>G
c.10610A>G (p.Lys3537Arg)
c.764A>G (p.Lys255Arg)
c.1966A>G
c.1707A>G
c.4101A>G (n.4101A>G)
c.10484A>G (p.Lys3495Arg)
n.4413A>G
c.10613A>G (p.Lys3538Arg)
2g.73572487A>TCA347284139ALMS1c.10229A>T (p.Lys3410Met)
c.3315A>T
c.7510A>T
c.4676A>T (p.Lys1559Met)
c.7555A>T
c.10610A>T (p.Lys3537Met)
c.764A>T (p.Lys255Met)
c.1966A>T
c.1707A>T
c.4101A>T (n.4101A>T)
c.10484A>T (p.Lys3495Met)
n.4413A>T
c.10613A>T (p.Lys3538Met)
2g.73572488G>ACA427023997ALMS1c.10230G>A (p.Lys3410=)
c.3316G>A
c.7511G>A
c.4677G>A (p.Lys1559=)
c.7556G>A
c.10611G>A (p.Lys3537=)
c.765G>A (p.Lys255=)
c.1967G>A
c.1708G>A
c.4102G>A (n.4102G>A)
c.10485G>A (p.Lys3495=)
n.4414G>A
c.10614G>A (p.Lys3538=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572488G>CCA347284148ALMS1c.10230G>C (p.Lys3410Asn)
c.3316G>C
c.7511G>C
c.4677G>C (p.Lys1559Asn)
c.7556G>C
c.10611G>C (p.Lys3537Asn)
c.765G>C (p.Lys255Asn)
c.1967G>C
c.1708G>C
c.4102G>C (n.4102G>C)
c.10485G>C (p.Lys3495Asn)
n.4414G>C
c.10614G>C (p.Lys3538Asn)
2g.73572488G=CA1261021234ALMS1c.10230G= (p.Lys3410=)
c.3316G=
c.7511G=
c.4677G= (p.Lys1559=)
c.7556G=
c.10611G= (p.Lys3537=)
c.765G= (p.Lys255=)
c.1967G=
c.1708G=
c.4102G= (n.4102G=)
c.10485G= (p.Lys3495=)
n.4414G=
c.10614G= (p.Lys3538=)
2g.73572488G>TCA347284145ALMS1c.10230G>T (p.Lys3410Asn)
c.3316G>T
c.7511G>T
c.4677G>T (p.Lys1559Asn)
c.7556G>T
c.10611G>T (p.Lys3537Asn)
c.765G>T (p.Lys255Asn)
c.1967G>T
c.1708G>T
c.4102G>T (n.4102G>T)
c.10485G>T (p.Lys3495Asn)
n.4414G>T
c.10614G>T (p.Lys3538Asn)
2g.73572489A=CA1261021235ALMS1c.10231A= (p.Thr3411=)
c.3317A=
c.7512A=
c.4678A= (p.Thr1560=)
c.7557A=
c.10612A= (p.Thr3538=)
c.766A= (p.Thr256=)
c.1968A=
c.1709A=
c.4103A= (n.4103A=)
c.10486A= (p.Thr3496=)
n.4415A=
c.10615A= (p.Thr3539=)
2g.73572489A>CCA347284153ALMS1c.10231A>C (p.Thr3411Pro)
c.3317A>C
c.7512A>C
c.4678A>C (p.Thr1560Pro)
c.7557A>C
c.10612A>C (p.Thr3538Pro)
c.766A>C (p.Thr256Pro)
c.1968A>C
c.1709A>C
c.4103A>C (n.4103A>C)
c.10486A>C (p.Thr3496Pro)
n.4415A>C
c.10615A>C (p.Thr3539Pro)
 gnomAD v4
2g.73572489A>GCA347284156ALMS1c.10231A>G (p.Thr3411Ala)
c.3317A>G
c.7512A>G
c.4678A>G (p.Thr1560Ala)
c.7557A>G
c.10612A>G (p.Thr3538Ala)
c.766A>G (p.Thr256Ala)
c.1968A>G
c.1709A>G
c.4103A>G (n.4103A>G)
c.10486A>G (p.Thr3496Ala)
n.4415A>G
c.10615A>G (p.Thr3539Ala)
 ClinVar dbSNP gnomAD v4
2g.73572489A>TCA347284159ALMS1c.10231A>T (p.Thr3411Ser)
c.3317A>T
c.7512A>T
c.4678A>T (p.Thr1560Ser)
c.7557A>T
c.10612A>T (p.Thr3538Ser)
c.766A>T (p.Thr256Ser)
c.1968A>T
c.1709A>T
c.4103A>T (n.4103A>T)
c.10486A>T (p.Thr3496Ser)
n.4415A>T
c.10615A>T (p.Thr3539Ser)
2g.73572490C>ACA347284164ALMS1c.10232C>A (p.Thr3411Asn)
c.3318C>A
c.7513C>A
c.4679C>A (p.Thr1560Asn)
c.7558C>A
c.10613C>A (p.Thr3538Asn)
c.767C>A (p.Thr256Asn)
c.1969C>A
c.1C>A
c.1710C>A
c.4104C>A (n.4104C>A)
c.10487C>A (p.Thr3496Asn)
n.4416C>A
c.10616C>A (p.Thr3539Asn)
2g.73572490C>GCA347284166ALMS1c.10232C>G (p.Thr3411Ser)
c.3318C>G
c.7513C>G
c.4679C>G (p.Thr1560Ser)
c.7558C>G
c.10613C>G (p.Thr3538Ser)
c.767C>G (p.Thr256Ser)
c.1969C>G
c.1C>G
c.1710C>G
c.4104C>G (n.4104C>G)
c.10487C>G (p.Thr3496Ser)
n.4416C>G
c.10616C>G (p.Thr3539Ser)
2g.73572490C>TCA347284175ALMS1c.10232C>T (p.Thr3411Ile)
c.3318C>T
c.7513C>T
c.4679C>T (p.Thr1560Ile)
c.7558C>T
c.10613C>T (p.Thr3538Ile)
c.767C>T (p.Thr256Ile)
c.1969C>T
c.1C>T
c.1710C>T
c.4104C>T (n.4104C>T)
c.10487C>T (p.Thr3496Ile)
n.4416C>T
c.10616C>T (p.Thr3539Ile)
 ClinVar
2g.73572491T>ACA427024003ALMS1c.10233T>A (p.Thr3411=)
c.3319T>A
c.7514T>A
c.4680T>A (p.Thr1560=)
c.7559T>A
c.10614T>A (p.Thr3538=)
c.768T>A (p.Thr256=)
c.1970T>A
c.2T>A
c.1711T>A
c.4105T>A (n.4105T>A)
c.10488T>A (p.Thr3496=)
n.4417T>A
c.10617T>A (p.Thr3539=)
2g.73572491T>CCA427024005ALMS1c.10233T>C (p.Thr3411=)
c.3319T>C
c.7514T>C
c.4680T>C (p.Thr1560=)
c.7559T>C
c.10614T>C (p.Thr3538=)
c.768T>C (p.Thr256=)
c.1970T>C
c.2T>C
c.1711T>C
c.4105T>C (n.4105T>C)
c.10488T>C (p.Thr3496=)
n.4417T>C
c.10617T>C (p.Thr3539=)
2g.73572491T>GCA427024008ALMS1c.10233T>G (p.Thr3411=)
c.3319T>G
c.7514T>G
c.4680T>G (p.Thr1560=)
c.7559T>G
c.10614T>G (p.Thr3538=)
c.768T>G (p.Thr256=)
c.1970T>G
c.2T>G
c.1711T>G
c.4105T>G (n.4105T>G)
c.10488T>G (p.Thr3496=)
n.4417T>G
c.10617T>G (p.Thr3539=)
2g.73572492A>CCA347284179ALMS1c.10234A>C (p.Lys3412Gln)
c.3320A>C
c.7515A>C
c.4681A>C (p.Lys1561Gln)
c.7560A>C
c.10615A>C (p.Lys3539Gln)
c.769A>C (p.Lys257Gln)
c.1971A>C
c.3A>C
c.1712A>C
c.4106A>C (n.4106A>C)
c.10489A>C (p.Lys3497Gln)
n.4418A>C
c.10618A>C (p.Lys3540Gln)
2g.73572492A>GCA347284186ALMS1c.10234A>G (p.Lys3412Glu)
c.3320A>G
c.7515A>G
c.4681A>G (p.Lys1561Glu)
c.7560A>G
c.10615A>G (p.Lys3539Glu)
c.769A>G (p.Lys257Glu)
c.1971A>G
c.3A>G
c.1712A>G
c.4106A>G (n.4106A>G)
c.10489A>G (p.Lys3497Glu)
n.4418A>G
c.10618A>G (p.Lys3540Glu)
2g.73572492A>TCA347284181ALMS1c.10234A>T (p.Lys3412Ter)
c.3320A>T
c.7515A>T
c.4681A>T (p.Lys1561Ter)
c.7560A>T
c.10615A>T (p.Lys3539Ter)
c.769A>T (p.Lys257Ter)
c.1971A>T
c.3A>T
c.1712A>T
c.4106A>T (n.4106A>T)
c.10489A>T (p.Lys3497Ter)
n.4418A>T
c.10618A>T (p.Lys3540Ter)
2g.73572493A=CA1261021236ALMS1c.10235A= (p.Lys3412=)
c.3321A=
c.7516A=
c.4682A= (p.Lys1561=)
c.7561A=
c.10616A= (p.Lys3539=)
c.770A= (p.Lys257=)
c.1972A=
c.4A=
c.1713A=
c.4107A= (n.4107A=)
c.10490A= (p.Lys3497=)
n.4419A=
c.10619A= (p.Lys3540=)
2g.73572493A>CCA347284189ALMS1c.10235A>C (p.Lys3412Thr)
c.3321A>C
c.7516A>C
c.4682A>C (p.Lys1561Thr)
c.7561A>C
c.10616A>C (p.Lys3539Thr)
c.770A>C (p.Lys257Thr)
c.1972A>C
c.4A>C
c.1713A>C
c.4107A>C (n.4107A>C)
c.10490A>C (p.Lys3497Thr)
n.4419A>C
c.10619A>C (p.Lys3540Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572493A>GCA347284194ALMS1c.10235A>G (p.Lys3412Arg)
c.3321A>G
c.7516A>G
c.4682A>G (p.Lys1561Arg)
c.7561A>G
c.10616A>G (p.Lys3539Arg)
c.770A>G (p.Lys257Arg)
c.1972A>G
c.4A>G
c.1713A>G
c.4107A>G (n.4107A>G)
c.10490A>G (p.Lys3497Arg)
n.4419A>G
c.10619A>G (p.Lys3540Arg)
 gnomAD v4
2g.73572493A>TCA347284198ALMS1c.10235A>T (p.Lys3412Met)
c.3321A>T
c.7516A>T
c.4682A>T (p.Lys1561Met)
c.7561A>T
c.10616A>T (p.Lys3539Met)
c.770A>T (p.Lys257Met)
c.1972A>T
c.4A>T
c.1713A>T
c.4107A>T (n.4107A>T)
c.10490A>T (p.Lys3497Met)
n.4419A>T
c.10619A>T (p.Lys3540Met)
2g.73572496_73572499delCA2499216271ALMS1c.10238_10241del (p.Thr3413IlefsTer5)
c.3324_3327del
c.7519_7522del
c.4685_4688del (p.Thr1562IlefsTer5)
c.7564_7567del
c.10619_10622del (p.Thr3540IlefsTer5)
c.773_776del (p.Thr258IlefsTer5)
c.1975_1978del
c.7_10del
c.1716_1719del
c.4110_4113del (n.4110_4113del)
c.10493_10496del (p.Thr3498IlefsTer5)
n.4422_4425del
c.10622_10625del (p.Thr3541IlefsTer5)
 ClinVar dbSNP gnomAD v4
2g.73572494G>ACA427024015ALMS1c.10236G>A (p.Lys3412=)
c.3322G>A
c.7517G>A
c.4683G>A (p.Lys1561=)
c.7562G>A
c.10617G>A (p.Lys3539=)
c.771G>A (p.Lys257=)
c.1973G>A
c.5G>A
c.1714G>A
c.4108G>A (n.4108G>A)
c.10491G>A (p.Lys3497=)
n.4420G>A
c.10620G>A (p.Lys3540=)
2g.73572494G>CCA347284201ALMS1c.10236G>C (p.Lys3412Asn)
c.3322G>C
c.7517G>C
c.4683G>C (p.Lys1561Asn)
c.7562G>C
c.10617G>C (p.Lys3539Asn)
c.771G>C (p.Lys257Asn)
c.1973G>C
c.5G>C
c.1714G>C
c.4108G>C (n.4108G>C)
c.10491G>C (p.Lys3497Asn)
n.4420G>C
c.10620G>C (p.Lys3540Asn)
2g.73572494G>TCA347284207ALMS1c.10236G>T (p.Lys3412Asn)
c.3322G>T
c.7517G>T
c.4683G>T (p.Lys1561Asn)
c.7562G>T
c.10617G>T (p.Lys3539Asn)
c.771G>T (p.Lys257Asn)
c.1973G>T
c.5G>T
c.1714G>T
c.4108G>T (n.4108G>T)
c.10491G>T (p.Lys3497Asn)
n.4420G>T
c.10620G>T (p.Lys3540Asn)
2g.73572495A>CCA347284211ALMS1c.10237A>C (p.Thr3413Pro)
c.3323A>C
c.7518A>C
c.4684A>C (p.Thr1562Pro)
c.7563A>C
c.10618A>C (p.Thr3540Pro)
c.772A>C (p.Thr258Pro)
c.1974A>C
c.6A>C
c.1715A>C
c.4109A>C (n.4109A>C)
c.10492A>C (p.Thr3498Pro)
n.4421A>C
c.10621A>C (p.Thr3541Pro)
2g.73572495A>GCA347284213ALMS1c.10237A>G (p.Thr3413Ala)
c.3323A>G
c.7518A>G
c.4684A>G (p.Thr1562Ala)
c.7563A>G
c.10618A>G (p.Thr3540Ala)
c.772A>G (p.Thr258Ala)
c.1974A>G
c.6A>G
c.1715A>G
c.4109A>G (n.4109A>G)
c.10492A>G (p.Thr3498Ala)
n.4421A>G
c.10621A>G (p.Thr3541Ala)
 gnomAD v4
2g.73572495A>TCA347284217ALMS1c.10237A>T (p.Thr3413Ser)
c.3323A>T
c.7518A>T
c.4684A>T (p.Thr1562Ser)
c.7563A>T
c.10618A>T (p.Thr3540Ser)
c.772A>T (p.Thr258Ser)
c.1974A>T
c.6A>T
c.1715A>T
c.4109A>T (n.4109A>T)
c.10492A>T (p.Thr3498Ser)
n.4421A>T
c.10621A>T (p.Thr3541Ser)
2g.73572495_73572496insACCCA2750467769ALMS1c.10237_10238insACC (p.Thr3413delinsAsnPro)
c.3323_3324insACC
c.7518_7519insACC
c.4684_4685insACC (p.Thr1562delinsAsnPro)
c.7563_7564insACC
c.10618_10619insACC (p.Thr3540delinsAsnPro)
c.772_773insACC (p.Thr258delinsAsnPro)
c.1974_1975insACC
c.6_7insACC
c.1715_1716insACC
c.4109_4110insACC (n.4109_4110insACC)
c.10492_10493insACC (p.Thr3498delinsAsnPro)
n.4421_4422insACC
c.10621_10622insACC (p.Thr3541delinsAsnPro)
2g.73572496C>ACA347284220ALMS1c.10238C>A (p.Thr3413Lys)
c.3324C>A
c.7519C>A
c.4685C>A (p.Thr1562Lys)
c.7564C>A
c.10619C>A (p.Thr3540Lys)
c.773C>A (p.Thr258Lys)
c.1975C>A
c.7C>A
c.1716C>A
c.4110C>A (n.4110C>A)
c.10493C>A (p.Thr3498Lys)
n.4422C>A
c.10622C>A (p.Thr3541Lys)
2g.73572496C>GCA347284221ALMS1c.10238C>G (p.Thr3413Arg)
c.3324C>G
c.7519C>G
c.4685C>G (p.Thr1562Arg)
c.7564C>G
c.10619C>G (p.Thr3540Arg)
c.773C>G (p.Thr258Arg)
c.1975C>G
c.7C>G
c.1716C>G
c.4110C>G (n.4110C>G)
c.10493C>G (p.Thr3498Arg)
n.4422C>G
c.10622C>G (p.Thr3541Arg)
2g.73572496C>TCA347284223ALMS1c.10238C>T (p.Thr3413Ile)
c.3324C>T
c.7519C>T
c.4685C>T (p.Thr1562Ile)
c.7564C>T
c.10619C>T (p.Thr3540Ile)
c.773C>T (p.Thr258Ile)
c.1975C>T
c.7C>T
c.1716C>T
c.4110C>T (n.4110C>T)
c.10493C>T (p.Thr3498Ile)
n.4422C>T
c.10622C>T (p.Thr3541Ile)
2g.73572497A>CCA427024029ALMS1c.10239A>C (p.Thr3413=)
c.3325A>C
c.7520A>C
c.4686A>C (p.Thr1562=)
c.7565A>C
c.10620A>C (p.Thr3540=)
c.774A>C (p.Thr258=)
c.1976A>C
c.8A>C
c.1717A>C
c.4111A>C (n.4111A>C)
c.10494A>C (p.Thr3498=)
n.4423A>C
c.10623A>C (p.Thr3541=)
2g.73572497A>GCA427024026ALMS1c.10239A>G (p.Thr3413=)
c.3325A>G
c.7520A>G
c.4686A>G (p.Thr1562=)
c.7565A>G
c.10620A>G (p.Thr3540=)
c.774A>G (p.Thr258=)
c.1976A>G
c.8A>G
c.1717A>G
c.4111A>G (n.4111A>G)
c.10494A>G (p.Thr3498=)
n.4423A>G
c.10623A>G (p.Thr3541=)
 ClinVar dbSNP
2g.73572497A>TCA427024027ALMS1c.10239A>T (p.Thr3413=)
c.3325A>T
c.7520A>T
c.4686A>T (p.Thr1562=)
c.7565A>T
c.10620A>T (p.Thr3540=)
c.774A>T (p.Thr258=)
c.1976A>T
c.8A>T
c.1717A>T
c.4111A>T (n.4111A>T)
c.10494A>T (p.Thr3498=)
n.4423A>T
c.10623A>T (p.Thr3541=)
2g.73572498G>ACA347284235ALMS1c.10240G>A (p.Asp3414Asn)
c.3326G>A
c.7521G>A
c.4687G>A (p.Asp1563Asn)
c.7566G>A
c.10621G>A (p.Asp3541Asn)
c.775G>A (p.Asp259Asn)
c.1977G>A
c.9G>A
c.1718G>A
c.4112G>A (n.4112G>A)
c.10495G>A (p.Asp3499Asn)
n.4424G>A
c.10624G>A (p.Asp3542Asn)
 ClinVar dbSNP
2g.73572498G>CCA347284232ALMS1c.10240G>C (p.Asp3414His)
c.3326G>C
c.7521G>C
c.4687G>C (p.Asp1563His)
c.7566G>C
c.10621G>C (p.Asp3541His)
c.775G>C (p.Asp259His)
c.1977G>C
c.9G>C
c.1718G>C
c.4112G>C (n.4112G>C)
c.10495G>C (p.Asp3499His)
n.4424G>C
c.10624G>C (p.Asp3542His)
2g.73572498G=CA1261021237ALMS1c.10240G= (p.Asp3414=)
c.3326G=
c.7521G=
c.4687G= (p.Asp1563=)
c.7566G=
c.10621G= (p.Asp3541=)
c.775G= (p.Asp259=)
c.1977G=
c.9G=
c.1718G=
c.4112G= (n.4112G=)
c.10495G= (p.Asp3499=)
n.4424G=
c.10624G= (p.Asp3542=)
2g.73572498G>TCA347284229ALMS1c.10240G>T (p.Asp3414Tyr)
c.3326G>T
c.7521G>T
c.4687G>T (p.Asp1563Tyr)
c.7566G>T
c.10621G>T (p.Asp3541Tyr)
c.775G>T (p.Asp259Tyr)
c.1977G>T
c.9G>T
c.1718G>T
c.4112G>T (n.4112G>T)
c.10495G>T (p.Asp3499Tyr)
n.4424G>T
c.10624G>T (p.Asp3542Tyr)
2g.73572499A=CA1261021238ALMS1c.10241A= (p.Asp3414=)
c.3327A=
c.7522A=
c.4688A= (p.Asp1563=)
c.7567A=
c.10622A= (p.Asp3541=)
c.776A= (p.Asp259=)
c.1978A=
c.10A=
c.1719A=
c.4113A= (n.4113A=)
c.10496A= (p.Asp3499=)
n.4425A=
c.10625A= (p.Asp3542=)
2g.73572499A>CCA347284239ALMS1c.10241A>C (p.Asp3414Ala)
c.3327A>C
c.7522A>C
c.4688A>C (p.Asp1563Ala)
c.7567A>C
c.10622A>C (p.Asp3541Ala)
c.776A>C (p.Asp259Ala)
c.1978A>C
c.10A>C
c.1719A>C
c.4113A>C (n.4113A>C)
c.10496A>C (p.Asp3499Ala)
n.4425A>C
c.10625A>C (p.Asp3542Ala)
2g.73572499A>GCA347284244ALMS1c.10241A>G (p.Asp3414Gly)
c.3327A>G
c.7522A>G
c.4688A>G (p.Asp1563Gly)
c.7567A>G
c.10622A>G (p.Asp3541Gly)
c.776A>G (p.Asp259Gly)
c.1978A>G
c.10A>G
c.1719A>G
c.4113A>G (n.4113A>G)
c.10496A>G (p.Asp3499Gly)
n.4425A>G
c.10625A>G (p.Asp3542Gly)
2g.73572499A>TCA347284243ALMS1c.10241A>T (p.Asp3414Val)
c.3327A>T
c.7522A>T
c.4688A>T (p.Asp1563Val)
c.7567A>T
c.10622A>T (p.Asp3541Val)
c.776A>T (p.Asp259Val)
c.1978A>T
c.10A>T
c.1719A>T
c.4113A>T (n.4113A>T)
c.10496A>T (p.Asp3499Val)
n.4425A>T
c.10625A>T (p.Asp3542Val)
2g.73572499_73572500insACGGGCA534123606ALMS1c.10241_10242insACGGG (p.Asp3414GlufsTer7)
c.3327_3328insACGGG
c.7522_7523insACGGG
c.4688_4689insACGGG (p.Asp1563GlufsTer7)
c.7567_7568insACGGG
c.10622_10623insACGGG (p.Asp3541GlufsTer7)
c.776_777insACGGG (p.Asp259GlufsTer7)
c.1978_1979insACGGG
c.10_11insACGGG
c.1719_1720insACGGG
c.4113_4114insACGGG (n.4113_4114insACGGG)
c.10496_10497insACGGG (p.Asp3499GlufsTer7)
n.4425_4426insACGGG
c.10625_10626insACGGG (p.Asp3542GlufsTer7)
 dbSNP gnomAD v2
2g.73572499_73572500insACGGGTAGTATCA2533181878ALMS1c.10241_10242insACGGGTAGTAT (p.Asp3414GlufsTer9)
c.3327_3328insACGGGTAGTAT
c.7522_7523insACGGGTAGTAT
c.4688_4689insACGGGTAGTAT (p.Asp1563GlufsTer9)
c.7567_7568insACGGGTAGTAT
c.10622_10623insACGGGTAGTAT (p.Asp3541GlufsTer9)
c.776_777insACGGGTAGTAT (p.Asp259GlufsTer9)
c.1978_1979insACGGGTAGTAT
c.10_11insACGGGTAGTAT
c.1719_1720insACGGGTAGTAT
c.4113_4114insACGGGTAGTAT (n.4113_4114insACGGGTAGTAT)
c.10496_10497insACGGGTAGTAT (p.Asp3499GlufsTer9)
n.4425_4426insACGGGTAGTAT
c.10625_10626insACGGGTAGTAT (p.Asp3542GlufsTer9)
2g.73572499_73572500insACGGGTAGTATTCA1261021239ALMS1c.10241_10242insACGGGTAGTATT (p.Asp3414delinsGluArgValValPhe)
c.3327_3328insACGGGTAGTATT
c.7522_7523insACGGGTAGTATT
c.4688_4689insACGGGTAGTATT (p.Asp1563delinsGluArgValValPhe)
c.7567_7568insACGGGTAGTATT
c.10622_10623insACGGGTAGTATT (p.Asp3541delinsGluArgValValPhe)
c.776_777insACGGGTAGTATT (p.Asp259delinsGluArgValValPhe)
c.1978_1979insACGGGTAGTATT
c.10_11insACGGGTAGTATT
c.1719_1720insACGGGTAGTATT
c.4113_4114insACGGGTAGTATT (n.4113_4114insACGGGTAGTATT)
c.10496_10497insACGGGTAGTATT (p.Asp3499delinsGluArgValValPhe)
n.4425_4426insACGGGTAGTATT
c.10625_10626insACGGGTAGTATT (p.Asp3542delinsGluArgValValPhe)
 dbSNP
2g.73572500T>ACA347284249ALMS1c.10242T>A (p.Asp3414Glu)
c.3328T>A
c.7523T>A
c.4689T>A (p.Asp1563Glu)
c.7568T>A
c.10623T>A (p.Asp3541Glu)
c.777T>A (p.Asp259Glu)
c.1979T>A
c.11T>A
c.1720T>A
c.4114T>A (n.4114T>A)
c.10497T>A (p.Asp3499Glu)
n.4426T>A
c.10626T>A (p.Asp3542Glu)
2g.73572500T>CCA427024033ALMS1c.10242T>C (p.Asp3414=)
c.3328T>C
c.7523T>C
c.4689T>C (p.Asp1563=)
c.7568T>C
c.10623T>C (p.Asp3541=)
c.777T>C (p.Asp259=)
c.1979T>C
c.11T>C
c.1720T>C
c.4114T>C (n.4114T>C)
c.10497T>C (p.Asp3499=)
n.4426T>C
c.10626T>C (p.Asp3542=)
2g.73572500T>GCA347284253ALMS1c.10242T>G (p.Asp3414Glu)
c.3328T>G
c.7523T>G
c.4689T>G (p.Asp1563Glu)
c.7568T>G
c.10623T>G (p.Asp3541Glu)
c.777T>G (p.Asp259Glu)
c.1979T>G
c.11T>G
c.1720T>G
c.4114T>G (n.4114T>G)
c.10497T>G (p.Asp3499Glu)
n.4426T>G
c.10626T>G (p.Asp3542Glu)
2g.73572501T>ACA347284258ALMS1c.10243T>A (p.Tyr3415Asn)
c.3329T>A
c.7524T>A
c.4690T>A (p.Tyr1564Asn)
c.7569T>A
c.10624T>A (p.Tyr3542Asn)
c.778T>A (p.Tyr260Asn)
c.1980T>A
c.12T>A
c.1721T>A
c.4115T>A (n.4115T>A)
c.10498T>A (p.Tyr3500Asn)
n.4427T>A
c.10627T>A (p.Tyr3543Asn)
2g.73572501T>CCA347284261ALMS1c.10243T>C (p.Tyr3415His)
c.3329T>C
c.7524T>C
c.4690T>C (p.Tyr1564His)
c.7569T>C
c.10624T>C (p.Tyr3542His)
c.778T>C (p.Tyr260His)
c.1980T>C
c.12T>C
c.1721T>C
c.4115T>C (n.4115T>C)
c.10498T>C (p.Tyr3500His)
n.4427T>C
c.10627T>C (p.Tyr3543His)
2g.73572501T>GCA347284264ALMS1c.10243T>G (p.Tyr3415Asp)
c.3329T>G
c.7524T>G
c.4690T>G (p.Tyr1564Asp)
c.7569T>G
c.10624T>G (p.Tyr3542Asp)
c.778T>G (p.Tyr260Asp)
c.1980T>G
c.12T>G
c.1721T>G
c.4115T>G (n.4115T>G)
c.10498T>G (p.Tyr3500Asp)
n.4427T>G
c.10627T>G (p.Tyr3543Asp)
 gnomAD v4
2g.73572502A=CA1261021240ALMS1c.10244A= (p.Tyr3415=)
c.3330A=
c.7525A=
c.4691A= (p.Tyr1564=)
c.7570A=
c.10625A= (p.Tyr3542=)
c.779A= (p.Tyr260=)
c.1981A=
c.13A=
c.1722A=
c.4116A= (n.4116A=)
c.10499A= (p.Tyr3500=)
n.4428A=
c.10628A= (p.Tyr3543=)
2g.73572502A>CCA347284268ALMS1c.10244A>C (p.Tyr3415Ser)
c.3330A>C
c.7525A>C
c.4691A>C (p.Tyr1564Ser)
c.7570A>C
c.10625A>C (p.Tyr3542Ser)
c.779A>C (p.Tyr260Ser)
c.1981A>C
c.13A>C
c.1722A>C
c.4116A>C (n.4116A>C)
c.10499A>C (p.Tyr3500Ser)
n.4428A>C
c.10628A>C (p.Tyr3543Ser)
2g.73572502A>GCA1715036ALMS1c.10244A>G (p.Tyr3415Cys)
c.3330A>G
c.7525A>G
c.4691A>G (p.Tyr1564Cys)
c.7570A>G
c.10625A>G (p.Tyr3542Cys)
c.779A>G (p.Tyr260Cys)
c.1981A>G
c.13A>G
c.1722A>G
c.4116A>G (n.4116A>G)
c.10499A>G (p.Tyr3500Cys)
n.4428A>G
c.10628A>G (p.Tyr3543Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572502A>TCA347284273ALMS1c.10244A>T (p.Tyr3415Phe)
c.3330A>T
c.7525A>T
c.4691A>T (p.Tyr1564Phe)
c.7570A>T
c.10625A>T (p.Tyr3542Phe)
c.779A>T (p.Tyr260Phe)
c.1981A>T
c.13A>T
c.1722A>T
c.4116A>T (n.4116A>T)
c.10499A>T (p.Tyr3500Phe)
n.4428A>T
c.10628A>T (p.Tyr3543Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572503T>ACA347284278ALMS1c.10245T>A (p.Tyr3415Ter)
c.3331T>A
c.7526T>A
c.4692T>A (p.Tyr1564Ter)
c.7571T>A
c.10626T>A (p.Tyr3542Ter)
c.780T>A (p.Tyr260Ter)
c.1982T>A
c.14T>A
c.1723T>A
c.4117T>A (n.4117T>A)
c.10500T>A (p.Tyr3500Ter)
n.4429T>A
c.10629T>A (p.Tyr3543Ter)
2g.73572503T>CCA427024040ALMS1c.10245T>C (p.Tyr3415=)
c.3331T>C
c.7526T>C
c.4692T>C (p.Tyr1564=)
c.7571T>C
c.10626T>C (p.Tyr3542=)
c.780T>C (p.Tyr260=)
c.1982T>C
c.14T>C
c.1723T>C
c.4117T>C (n.4117T>C)
c.10500T>C (p.Tyr3500=)
n.4429T>C
c.10629T>C (p.Tyr3543=)
2g.73572503T>GCA347284281ALMS1c.10245T>G (p.Tyr3415Ter)
c.3331T>G
c.7526T>G
c.4692T>G (p.Tyr1564Ter)
c.7571T>G
c.10626T>G (p.Tyr3542Ter)
c.780T>G (p.Tyr260Ter)
c.1982T>G
c.14T>G
c.1723T>G
c.4117T>G (n.4117T>G)
c.10500T>G (p.Tyr3500Ter)
n.4429T>G
c.10629T>G (p.Tyr3543Ter)
2g.73572504A>CCA347284285ALMS1c.10246A>C (p.Thr3416Pro)
c.3332A>C
c.7527A>C
c.4693A>C (p.Thr1565Pro)
c.7572A>C
c.10627A>C (p.Thr3543Pro)
c.781A>C (p.Thr261Pro)
c.1983A>C
c.15A>C
c.1724A>C
c.4118A>C (n.4118A>C)
c.10501A>C (p.Thr3501Pro)
n.4430A>C
c.10630A>C (p.Thr3544Pro)
2g.73572504A>GCA347284287ALMS1c.10246A>G (p.Thr3416Ala)
c.3332A>G
c.7527A>G
c.4693A>G (p.Thr1565Ala)
c.7572A>G
c.10627A>G (p.Thr3543Ala)
c.781A>G (p.Thr261Ala)
c.1983A>G
c.15A>G
c.1724A>G
c.4118A>G (n.4118A>G)
c.10501A>G (p.Thr3501Ala)
n.4430A>G
c.10630A>G (p.Thr3544Ala)
 gnomAD v4
2g.73572504A>TCA347284290ALMS1c.10246A>T (p.Thr3416Ser)
c.3332A>T
c.7527A>T
c.4693A>T (p.Thr1565Ser)
c.7572A>T
c.10627A>T (p.Thr3543Ser)
c.781A>T (p.Thr261Ser)
c.1983A>T
c.15A>T
c.1724A>T
c.4118A>T (n.4118A>T)
c.10501A>T (p.Thr3501Ser)
n.4430A>T
c.10630A>T (p.Thr3544Ser)
2g.73572505C>ACA347284293ALMS1c.10247C>A (p.Thr3416Asn)
c.3333C>A
c.7528C>A
c.4694C>A (p.Thr1565Asn)
c.7573C>A
c.10628C>A (p.Thr3543Asn)
c.782C>A (p.Thr261Asn)
c.1984C>A
c.16C>A
c.1725C>A
c.4119C>A (n.4119C>A)
c.10502C>A (p.Thr3501Asn)
n.4431C>A
c.10631C>A (p.Thr3544Asn)
2g.73572505C=CA1261021241ALMS1c.10247C= (p.Thr3416=)
c.3333C=
c.7528C=
c.4694C= (p.Thr1565=)
c.7573C=
c.10628C= (p.Thr3543=)
c.782C= (p.Thr261=)
c.1984C=
c.16C=
c.1725C=
c.4119C= (n.4119C=)
c.10502C= (p.Thr3501=)
n.4431C=
c.10631C= (p.Thr3544=)
2g.73572505C>GCA349169ALMS1c.10247C>G (p.Thr3416Ser)
c.3333C>G
c.7528C>G
c.4694C>G (p.Thr1565Ser)
c.7573C>G
c.10628C>G (p.Thr3543Ser)
c.782C>G (p.Thr261Ser)
c.1984C>G
c.16C>G
c.1725C>G
c.4119C>G (n.4119C>G)
c.10502C>G (p.Thr3501Ser)
n.4431C>G
c.10631C>G (p.Thr3544Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572505C>TCA347284297ALMS1c.10247C>T (p.Thr3416Ile)
c.3333C>T
c.7528C>T
c.4694C>T (p.Thr1565Ile)
c.7573C>T
c.10628C>T (p.Thr3543Ile)
c.782C>T (p.Thr261Ile)
c.1984C>T
c.16C>T
c.1725C>T
c.4119C>T (n.4119C>T)
c.10502C>T (p.Thr3501Ile)
n.4431C>T
c.10631C>T (p.Thr3544Ile)
2g.73572506C>ACA427024046ALMS1c.10248C>A (p.Thr3416=)
c.3334C>A
c.7529C>A
c.4695C>A (p.Thr1565=)
c.7574C>A
c.10629C>A (p.Thr3543=)
c.783C>A (p.Thr261=)
c.1985C>A
c.17C>A
c.1726C>A
c.4120C>A (n.4120C>A)
c.10503C>A (p.Thr3501=)
n.4432C>A
c.10632C>A (p.Thr3544=)
2g.73572506C=CA1261021242ALMS1c.10248C= (p.Thr3416=)
c.3334C=
c.7529C=
c.4695C= (p.Thr1565=)
c.7574C=
c.10629C= (p.Thr3543=)
c.783C= (p.Thr261=)
c.1985C=
c.17C=
c.1726C=
c.4120C= (n.4120C=)
c.10503C= (p.Thr3501=)
n.4432C=
c.10632C= (p.Thr3544=)
2g.73572506C>GCA427024047ALMS1c.10248C>G (p.Thr3416=)
c.3334C>G
c.7529C>G
c.4695C>G (p.Thr1565=)
c.7574C>G
c.10629C>G (p.Thr3543=)
c.783C>G (p.Thr261=)
c.1985C>G
c.17C>G
c.1726C>G
c.4120C>G (n.4120C>G)
c.10503C>G (p.Thr3501=)
n.4432C>G
c.10632C>G (p.Thr3544=)
 ClinVar dbSNP gnomAD v4
2g.73572506C>TCA427024048ALMS1c.10248C>T (p.Thr3416=)
c.3334C>T
c.7529C>T
c.4695C>T (p.Thr1565=)
c.7574C>T
c.10629C>T (p.Thr3543=)
c.783C>T (p.Thr261=)
c.1985C>T
c.17C>T
c.1726C>T
c.4120C>T (n.4120C>T)
c.10503C>T (p.Thr3501=)
n.4432C>T
c.10632C>T (p.Thr3544=)
 gnomAD v4
2g.73572507A=CA1261021243ALMS1c.10249A= (p.Arg3417=)
c.3335A=
c.7530A=
c.4696A= (p.Arg1566=)
c.7575A=
c.10630A= (p.Arg3544=)
c.784A= (p.Arg262=)
c.1986A=
c.18A=
c.1727A=
c.4121A= (n.4121A=)
c.10504A= (p.Arg3502=)
n.4433A=
c.10633A= (p.Arg3545=)
2g.73572507A>CCA427024051ALMS1c.10249A>C (p.Arg3417=)
c.3335A>C
c.7530A>C
c.4696A>C (p.Arg1566=)
c.7575A>C
c.10630A>C (p.Arg3544=)
c.784A>C (p.Arg262=)
c.1986A>C
c.18A>C
c.1727A>C
c.4121A>C (n.4121A>C)
c.10504A>C (p.Arg3502=)
n.4433A>C
c.10633A>C (p.Arg3545=)
2g.73572507A>GCA1715037ALMS1c.10249A>G (p.Arg3417Gly)
c.3335A>G
c.7530A>G
c.4696A>G (p.Arg1566Gly)
c.7575A>G
c.10630A>G (p.Arg3544Gly)
c.784A>G (p.Arg262Gly)
c.1986A>G
c.18A>G
c.1727A>G
c.4121A>G (n.4121A>G)
c.10504A>G (p.Arg3502Gly)
n.4433A>G
c.10633A>G (p.Arg3545Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572507A>TCA347284304ALMS1c.10249A>T (p.Arg3417Ter)
c.3335A>T
c.7530A>T
c.4696A>T (p.Arg1566Ter)
c.7575A>T
c.10630A>T (p.Arg3544Ter)
c.784A>T (p.Arg262Ter)
c.1986A>T
c.18A>T
c.1727A>T
c.4121A>T (n.4121A>T)
c.10504A>T (p.Arg3502Ter)
n.4433A>T
c.10633A>T (p.Arg3545Ter)
2g.73572508G>ACA347284309ALMS1c.10250G>A (p.Arg3417Lys)
c.3336G>A
c.7531G>A
c.4697G>A (p.Arg1566Lys)
c.7576G>A
c.10631G>A (p.Arg3544Lys)
c.785G>A (p.Arg262Lys)
c.1987G>A
c.19G>A
c.1728G>A
c.4122G>A (n.4122G>A)
c.10505G>A (p.Arg3502Lys)
n.4434G>A
c.10634G>A (p.Arg3545Lys)
2g.73572508G>CCA347284311ALMS1c.10250G>C (p.Arg3417Thr)
c.3336G>C
c.7531G>C
c.4697G>C (p.Arg1566Thr)
c.7576G>C
c.10631G>C (p.Arg3544Thr)
c.785G>C (p.Arg262Thr)
c.1987G>C
c.19G>C
c.1728G>C
c.4122G>C (n.4122G>C)
c.10505G>C (p.Arg3502Thr)
n.4434G>C
c.10634G>C (p.Arg3545Thr)
2g.73572508G>TCA347284322ALMS1c.10250G>T (p.Arg3417Ile)
c.3336G>T
c.7531G>T
c.4697G>T (p.Arg1566Ile)
c.7576G>T
c.10631G>T (p.Arg3544Ile)
c.785G>T (p.Arg262Ile)
c.1987G>T
c.19G>T
c.1728G>T
c.4122G>T (n.4122G>T)
c.10505G>T (p.Arg3502Ile)
n.4434G>T
c.10634G>T (p.Arg3545Ile)
2g.73572509A>CCA347284324ALMS1c.10251A>C (p.Arg3417Ser)
c.3337A>C
c.7532A>C
c.4698A>C (p.Arg1566Ser)
c.7577A>C
c.10632A>C (p.Arg3544Ser)
c.786A>C (p.Arg262Ser)
c.1988A>C
c.20A>C
c.1729A>C
c.4123A>C (n.4123A>C)
c.10506A>C (p.Arg3502Ser)
n.4435A>C
c.10635A>C (p.Arg3545Ser)
2g.73572509A>GCA427024056ALMS1c.10251A>G (p.Arg3417=)
c.3337A>G
c.7532A>G
c.4698A>G (p.Arg1566=)
c.7577A>G
c.10632A>G (p.Arg3544=)
c.786A>G (p.Arg262=)
c.1988A>G
c.20A>G
c.1729A>G
c.4123A>G (n.4123A>G)
c.10506A>G (p.Arg3502=)
n.4435A>G
c.10635A>G (p.Arg3545=)
 ClinVar
2g.73572509A>TCA347284326ALMS1c.10251A>T (p.Arg3417Ser)
c.3337A>T
c.7532A>T
c.4698A>T (p.Arg1566Ser)
c.7577A>T
c.10632A>T (p.Arg3544Ser)
c.786A>T (p.Arg262Ser)
c.1988A>T
c.20A>T
c.1729A>T
c.4123A>T (n.4123A>T)
c.10506A>T (p.Arg3502Ser)
n.4435A>T
c.10635A>T (p.Arg3545Ser)
2g.73572510A>CCA347284329ALMS1c.10252A>C (p.Ile3418Leu)
c.3338A>C
c.7533A>C
c.4699A>C (p.Ile1567Leu)
c.7578A>C
c.10633A>C (p.Ile3545Leu)
c.787A>C (p.Ile263Leu)
c.1989A>C
c.21A>C
c.1730A>C
c.4124A>C (n.4124A>C)
c.10507A>C (p.Ile3503Leu)
n.4436A>C
c.10636A>C (p.Ile3546Leu)
2g.73572510A>GCA347284332ALMS1c.10252A>G (p.Ile3418Val)
c.3338A>G
c.7533A>G
c.4699A>G (p.Ile1567Val)
c.7578A>G
c.10633A>G (p.Ile3545Val)
c.787A>G (p.Ile263Val)
c.1989A>G
c.21A>G
c.1730A>G
c.4124A>G (n.4124A>G)
c.10507A>G (p.Ile3503Val)
n.4436A>G
c.10636A>G (p.Ile3546Val)
2g.73572510A>TCA347284336ALMS1c.10252A>T (p.Ile3418Leu)
c.3338A>T
c.7533A>T
c.4699A>T (p.Ile1567Leu)
c.7578A>T
c.10633A>T (p.Ile3545Leu)
c.787A>T (p.Ile263Leu)
c.1989A>T
c.21A>T
c.1730A>T
c.4124A>T (n.4124A>T)
c.10507A>T (p.Ile3503Leu)
n.4436A>T
c.10636A>T (p.Ile3546Leu)
2g.73572511T>ACA347284358ALMS1c.10253T>A (p.Ile3418Lys)
c.3339T>A
c.7534T>A
c.4700T>A (p.Ile1567Lys)
c.7579T>A
c.10634T>A (p.Ile3545Lys)
c.788T>A (p.Ile263Lys)
c.1990T>A
c.22T>A
c.1731T>A
c.4125T>A (n.4125T>A)
c.10508T>A (p.Ile3503Lys)
n.4437T>A
c.10637T>A (p.Ile3546Lys)
2g.73572511T>CCA347284354ALMS1c.10253T>C (p.Ile3418Thr)
c.3339T>C
c.7534T>C
c.4700T>C (p.Ile1567Thr)
c.7579T>C
c.10634T>C (p.Ile3545Thr)
c.788T>C (p.Ile263Thr)
c.1990T>C
c.22T>C
c.1731T>C
c.4125T>C (n.4125T>C)
c.10508T>C (p.Ile3503Thr)
n.4437T>C
c.10637T>C (p.Ile3546Thr)
2g.73572511T>GCA347284340ALMS1c.10253T>G (p.Ile3418Arg)
c.3339T>G
c.7534T>G
c.4700T>G (p.Ile1567Arg)
c.7579T>G
c.10634T>G (p.Ile3545Arg)
c.788T>G (p.Ile263Arg)
c.1990T>G
c.22T>G
c.1731T>G
c.4125T>G (n.4125T>G)
c.10508T>G (p.Ile3503Arg)
n.4437T>G
c.10637T>G (p.Ile3546Arg)
2g.73572512A=CA1261021244ALMS1c.10254A= (p.Ile3418=)
c.3340A=
c.7535A=
c.4701A= (p.Ile1567=)
c.7580A=
c.10635A= (p.Ile3545=)
c.789A= (p.Ile263=)
c.1991A=
c.23A=
c.1732A=
c.4126A= (n.4126A=)
c.10509A= (p.Ile3503=)
n.4438A=
c.10638A= (p.Ile3546=)
2g.73572512A>CCA427024059ALMS1c.10254A>C (p.Ile3418=)
c.3340A>C
c.7535A>C
c.4701A>C (p.Ile1567=)
c.7580A>C
c.10635A>C (p.Ile3545=)
c.789A>C (p.Ile263=)
c.1991A>C
c.23A>C
c.1732A>C
c.4126A>C (n.4126A>C)
c.10509A>C (p.Ile3503=)
n.4438A>C
c.10638A>C (p.Ile3546=)
2g.73572512A>GCA1715038ALMS1c.10254A>G (p.Ile3418Met)
c.3340A>G
c.7535A>G
c.4701A>G (p.Ile1567Met)
c.7580A>G
c.10635A>G (p.Ile3545Met)
c.789A>G (p.Ile263Met)
c.1991A>G
c.23A>G
c.1732A>G
c.4126A>G (n.4126A>G)
c.10509A>G (p.Ile3503Met)
n.4438A>G
c.10638A>G (p.Ile3546Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572512A>TCA427024062ALMS1c.10254A>T (p.Ile3418=)
c.3340A>T
c.7535A>T
c.4701A>T (p.Ile1567=)
c.7580A>T
c.10635A>T (p.Ile3545=)
c.789A>T (p.Ile263=)
c.1991A>T
c.23A>T
c.1732A>T
c.4126A>T (n.4126A>T)
c.10509A>T (p.Ile3503=)
n.4438A>T
c.10638A>T (p.Ile3546=)
2g.73572513A=CA1261021245ALMS1c.10255A= (p.Lys3419=)
c.3341A=
c.7536A=
c.4702A= (p.Lys1568=)
c.7581A=
c.10636A= (p.Lys3546=)
c.790A= (p.Lys264=)
c.1992A=
c.24A=
c.1733A=
c.4127A= (n.4127A=)
c.10510A= (p.Lys3504=)
n.4439A=
c.10639A= (p.Lys3547=)
2g.73572513A>CCA347284365ALMS1c.10255A>C (p.Lys3419Gln)
c.3341A>C
c.7536A>C
c.4702A>C (p.Lys1568Gln)
c.7581A>C
c.10636A>C (p.Lys3546Gln)
c.790A>C (p.Lys264Gln)
c.1992A>C
c.24A>C
c.1733A>C
c.4127A>C (n.4127A>C)
c.10510A>C (p.Lys3504Gln)
n.4439A>C
c.10639A>C (p.Lys3547Gln)
2g.73572513A>GCA347284368ALMS1c.10255A>G (p.Lys3419Glu)
c.3341A>G
c.7536A>G
c.4702A>G (p.Lys1568Glu)
c.7581A>G
c.10636A>G (p.Lys3546Glu)
c.790A>G (p.Lys264Glu)
c.1992A>G
c.24A>G
c.1733A>G
c.4127A>G (n.4127A>G)
c.10510A>G (p.Lys3504Glu)
n.4439A>G
c.10639A>G (p.Lys3547Glu)
 dbSNP
2g.73572513A>TCA347284370ALMS1c.10255A>T (p.Lys3419Ter)
c.3341A>T
c.7536A>T
c.4702A>T (p.Lys1568Ter)
c.7581A>T
c.10636A>T (p.Lys3546Ter)
c.790A>T (p.Lys264Ter)
c.1992A>T
c.24A>T
c.1733A>T
c.4127A>T (n.4127A>T)
c.10510A>T (p.Lys3504Ter)
n.4439A>T
c.10639A>T (p.Lys3547Ter)
2g.73572514A>CCA347284375ALMS1c.10256A>C (p.Lys3419Thr)
c.3342A>C
c.7537A>C
c.4703A>C (p.Lys1568Thr)
c.7582A>C
c.10637A>C (p.Lys3546Thr)
c.791A>C (p.Lys264Thr)
c.1993A>C
c.25A>C
c.1734A>C
c.4128A>C (n.4128A>C)
c.10511A>C (p.Lys3504Thr)
n.4440A>C
c.10640A>C (p.Lys3547Thr)
2g.73572514A>GCA347284379ALMS1c.10256A>G (p.Lys3419Arg)
c.3342A>G
c.7537A>G
c.4703A>G (p.Lys1568Arg)
c.7582A>G
c.10637A>G (p.Lys3546Arg)
c.791A>G (p.Lys264Arg)
c.1993A>G
c.25A>G
c.1734A>G
c.4128A>G (n.4128A>G)
c.10511A>G (p.Lys3504Arg)
n.4440A>G
c.10640A>G (p.Lys3547Arg)
2g.73572514A>TCA347284382ALMS1c.10256A>T (p.Lys3419Met)
c.3342A>T
c.7537A>T
c.4703A>T (p.Lys1568Met)
c.7582A>T
c.10637A>T (p.Lys3546Met)
c.791A>T (p.Lys264Met)
c.1993A>T
c.25A>T
c.1734A>T
c.4128A>T (n.4128A>T)
c.10511A>T (p.Lys3504Met)
n.4440A>T
c.10640A>T (p.Lys3547Met)
2g.73572515G>ACA427024068ALMS1c.10257G>A (p.Lys3419=)
c.3343G>A
c.7538G>A
c.4704G>A (p.Lys1568=)
c.7583G>A
c.10638G>A (p.Lys3546=)
c.792G>A (p.Lys264=)
c.1994G>A
c.26G>A
c.1735G>A
c.4129G>A (n.4129G>A)
c.10512G>A (p.Lys3504=)
n.4441G>A
c.10641G>A (p.Lys3547=)
 gnomAD v4
2g.73572515G>CCA347284389ALMS1c.10257G>C (p.Lys3419Asn)
c.3343G>C
c.7538G>C
c.4704G>C (p.Lys1568Asn)
c.7583G>C
c.10638G>C (p.Lys3546Asn)
c.792G>C (p.Lys264Asn)
c.1994G>C
c.26G>C
c.1735G>C
c.4129G>C (n.4129G>C)
c.10512G>C (p.Lys3504Asn)
n.4441G>C
c.10641G>C (p.Lys3547Asn)
 gnomAD v4
2g.73572515G>TCA347284393ALMS1c.10257G>T (p.Lys3419Asn)
c.3343G>T
c.7538G>T
c.4704G>T (p.Lys1568Asn)
c.7583G>T
c.10638G>T (p.Lys3546Asn)
c.792G>T (p.Lys264Asn)
c.1994G>T
c.26G>T
c.1735G>T
c.4129G>T (n.4129G>T)
c.10512G>T (p.Lys3504Asn)
n.4441G>T
c.10641G>T (p.Lys3547Asn)
2g.73572516A=CA1261021246ALMS1c.10258A= (p.Ser3420=)
c.3344A=
c.7539A=
c.4705A= (p.Ser1569=)
c.7584A=
c.10639A= (p.Ser3547=)
c.793A= (p.Ser265=)
c.1995A=
c.27A=
c.1736A=
c.4130A= (n.4130A=)
c.10513A= (p.Ser3505=)
n.4442A=
c.10642A= (p.Ser3548=)
2g.73572516A>CCA347284398ALMS1c.10258A>C (p.Ser3420Arg)
c.3344A>C
c.7539A>C
c.4705A>C (p.Ser1569Arg)
c.7584A>C
c.10639A>C (p.Ser3547Arg)
c.793A>C (p.Ser265Arg)
c.1995A>C
c.27A>C
c.1736A>C
c.4130A>C (n.4130A>C)
c.10513A>C (p.Ser3505Arg)
n.4442A>C
c.10642A>C (p.Ser3548Arg)
2g.73572516A>GCA347284401ALMS1c.10258A>G (p.Ser3420Gly)
c.3344A>G
c.7539A>G
c.4705A>G (p.Ser1569Gly)
c.7584A>G
c.10639A>G (p.Ser3547Gly)
c.793A>G (p.Ser265Gly)
c.1995A>G
c.27A>G
c.1736A>G
c.4130A>G (n.4130A>G)
c.10513A>G (p.Ser3505Gly)
n.4442A>G
c.10642A>G (p.Ser3548Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.73572516A>TCA347284404ALMS1c.10258A>T (p.Ser3420Cys)
c.3344A>T
c.7539A>T
c.4705A>T (p.Ser1569Cys)
c.7584A>T
c.10639A>T (p.Ser3547Cys)
c.793A>T (p.Ser265Cys)
c.1995A>T
c.27A>T
c.1736A>T
c.4130A>T (n.4130A>T)
c.10513A>T (p.Ser3505Cys)
n.4442A>T
c.10642A>T (p.Ser3548Cys)
2g.73572517G>ACA347284413ALMS1c.10259G>A (p.Ser3420Asn)
c.3345G>A
c.7540G>A
c.4706G>A (p.Ser1569Asn)
c.7585G>A
c.10640G>A (p.Ser3547Asn)
c.794G>A (p.Ser265Asn)
c.1996G>A
c.28G>A
c.1737G>A
c.4131G>A (n.4131G>A)
c.10514G>A (p.Ser3505Asn)
n.4443G>A
c.10643G>A (p.Ser3548Asn)
2g.73572517G>CCA347284416ALMS1c.10259G>C (p.Ser3420Thr)
c.3345G>C
c.7540G>C
c.4706G>C (p.Ser1569Thr)
c.7585G>C
c.10640G>C (p.Ser3547Thr)
c.794G>C (p.Ser265Thr)
c.1996G>C
c.28G>C
c.1737G>C
c.4131G>C (n.4131G>C)
c.10514G>C (p.Ser3505Thr)
n.4443G>C
c.10643G>C (p.Ser3548Thr)
2g.73572517G>TCA347284410ALMS1c.10259G>T (p.Ser3420Ile)
c.3345G>T
c.7540G>T
c.4706G>T (p.Ser1569Ile)
c.7585G>T
c.10640G>T (p.Ser3547Ile)
c.794G>T (p.Ser265Ile)
c.1996G>T
c.28G>T
c.1737G>T
c.4131G>T (n.4131G>T)
c.10514G>T (p.Ser3505Ile)
n.4443G>T
c.10643G>T (p.Ser3548Ile)
2g.73572518C>ACA347284418ALMS1c.10260C>A (p.Ser3420Arg)
c.3346C>A
c.7541C>A
c.4707C>A (p.Ser1569Arg)
c.7586C>A
c.10641C>A (p.Ser3547Arg)
c.795C>A (p.Ser265Arg)
c.1997C>A
c.29C>A
c.1738C>A
c.4132C>A (n.4132C>A)
c.10515C>A (p.Ser3505Arg)
n.4444C>A
c.10644C>A (p.Ser3548Arg)
2g.73572518C=CA1261021247ALMS1c.10260C= (p.Ser3420=)
c.3346C=
c.7541C=
c.4707C= (p.Ser1569=)
c.7586C=
c.10641C= (p.Ser3547=)
c.795C= (p.Ser265=)
c.1997C=
c.29C=
c.1738C=
c.4132C= (n.4132C=)
c.10515C= (p.Ser3505=)
n.4444C=
c.10644C= (p.Ser3548=)
2g.73572518C>GCA347284419ALMS1c.10260C>G (p.Ser3420Arg)
c.3346C>G
c.7541C>G
c.4707C>G (p.Ser1569Arg)
c.7586C>G
c.10641C>G (p.Ser3547Arg)
c.795C>G (p.Ser265Arg)
c.1997C>G
c.29C>G
c.1738C>G
c.4132C>G (n.4132C>G)
c.10515C>G (p.Ser3505Arg)
n.4444C>G
c.10644C>G (p.Ser3548Arg)
 ClinVar dbSNP gnomAD v4
2g.73572518C>TCA50386318ALMS1c.10260C>T (p.Ser3420=)
c.3346C>T
c.7541C>T
c.4707C>T (p.Ser1569=)
c.7586C>T
c.10641C>T (p.Ser3547=)
c.795C>T (p.Ser265=)
c.1997C>T
c.29C>T
c.1738C>T
c.4132C>T (n.4132C>T)
c.10515C>T (p.Ser3505=)
n.4444C>T
c.10644C>T (p.Ser3548=)
 ClinVar dbSNP gnomAD v4
2g.73572519C>ACA347284425ALMS1c.10261C>A (p.Leu3421Ile)
c.3347C>A
c.7542C>A
c.4708C>A (p.Leu1570Ile)
c.7587C>A
c.10642C>A (p.Leu3548Ile)
c.796C>A (p.Leu266Ile)
c.1998C>A
c.30C>A
c.1739C>A
c.4133C>A (n.4133C>A)
c.10516C>A (p.Leu3506Ile)
n.4445C>A
c.10645C>A (p.Leu3549Ile)
2g.73572519C=CA1261021248ALMS1c.10261C= (p.Leu3421=)
c.3347C=
c.7542C=
c.4708C= (p.Leu1570=)
c.7587C=
c.10642C= (p.Leu3548=)
c.796C= (p.Leu266=)
c.1998C=
c.30C=
c.1739C=
c.4133C= (n.4133C=)
c.10516C= (p.Leu3506=)
n.4445C=
c.10645C= (p.Leu3549=)
2g.73572519C>GCA347284428ALMS1c.10261C>G (p.Leu3421Val)
c.3347C>G
c.7542C>G
c.4708C>G (p.Leu1570Val)
c.7587C>G
c.10642C>G (p.Leu3548Val)
c.796C>G (p.Leu266Val)
c.1998C>G
c.30C>G
c.1739C>G
c.4133C>G (n.4133C>G)
c.10516C>G (p.Leu3506Val)
n.4445C>G
c.10645C>G (p.Leu3549Val)
2g.73572519C>TCA50386332ALMS1c.10261C>T (p.Leu3421Phe)
c.3347C>T
c.7542C>T
c.4708C>T (p.Leu1570Phe)
c.7587C>T
c.10642C>T (p.Leu3548Phe)
c.796C>T (p.Leu266Phe)
c.1998C>T
c.30C>T
c.1739C>T
c.4133C>T (n.4133C>T)
c.10516C>T (p.Leu3506Phe)
n.4445C>T
c.10645C>T (p.Leu3549Phe)
 dbSNP gnomAD v4
2g.73572520T>ACA347284441ALMS1c.10262T>A (p.Leu3421His)
c.3348T>A
c.7543T>A
c.4709T>A (p.Leu1570His)
c.7588T>A
c.10643T>A (p.Leu3548His)
c.797T>A (p.Leu266His)
c.1999T>A
c.31T>A
c.1740T>A
c.4134T>A (n.4134T>A)
c.10517T>A (p.Leu3506His)
n.4446T>A
c.10646T>A (p.Leu3549His)
 ClinVar dbSNP
2g.73572520T>CCA347284435ALMS1c.10262T>C (p.Leu3421Pro)
c.3348T>C
c.7543T>C
c.4709T>C (p.Leu1570Pro)
c.7588T>C
c.10643T>C (p.Leu3548Pro)
c.797T>C (p.Leu266Pro)
c.1999T>C
c.31T>C
c.1740T>C
c.4134T>C (n.4134T>C)
c.10517T>C (p.Leu3506Pro)
n.4446T>C
c.10646T>C (p.Leu3549Pro)
2g.73572520T>GCA347284439ALMS1c.10262T>G (p.Leu3421Arg)
c.3348T>G
c.7543T>G
c.4709T>G (p.Leu1570Arg)
c.7588T>G
c.10643T>G (p.Leu3548Arg)
c.797T>G (p.Leu266Arg)
c.1999T>G
c.31T>G
c.1740T>G
c.4134T>G (n.4134T>G)
c.10517T>G (p.Leu3506Arg)
n.4446T>G
c.10646T>G (p.Leu3549Arg)
2g.73572520T=CA1261021249ALMS1c.10262T= (p.Leu3421=)
c.3348T=
c.7543T=
c.4709T= (p.Leu1570=)
c.7588T=
c.10643T= (p.Leu3548=)
c.797T= (p.Leu266=)
c.1999T=
c.31T=
c.1740T=
c.4134T= (n.4134T=)
c.10517T= (p.Leu3506=)
n.4446T=
c.10646T= (p.Leu3549=)
2g.73572521C>ACA427024074ALMS1c.10263C>A (p.Leu3421=)
c.3349C>A
c.7544C>A
c.4710C>A (p.Leu1570=)
c.7589C>A
c.10644C>A (p.Leu3548=)
c.798C>A (p.Leu266=)
c.2000C>A
c.32C>A
c.1741C>A
c.4135C>A (n.4135C>A)
c.10518C>A (p.Leu3506=)
n.4447C>A
c.10647C>A (p.Leu3549=)
2g.73572521C=CA1261021250ALMS1c.10263C= (p.Leu3421=)
c.3349C=
c.7544C=
c.4710C= (p.Leu1570=)
c.7589C=
c.10644C= (p.Leu3548=)
c.798C= (p.Leu266=)
c.2000C=
c.32C=
c.1741C=
c.4135C= (n.4135C=)
c.10518C= (p.Leu3506=)
n.4447C=
c.10647C= (p.Leu3549=)
2g.73572521C>GCA427024075ALMS1c.10263C>G (p.Leu3421=)
c.3349C>G
c.7544C>G
c.4710C>G (p.Leu1570=)
c.7589C>G
c.10644C>G (p.Leu3548=)
c.798C>G (p.Leu266=)
c.2000C>G
c.32C>G
c.1741C>G
c.4135C>G (n.4135C>G)
c.10518C>G (p.Leu3506=)
n.4447C>G
c.10647C>G (p.Leu3549=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572521C>TCA427024076ALMS1c.10263C>T (p.Leu3421=)
c.3349C>T
c.7544C>T
c.4710C>T (p.Leu1570=)
c.7589C>T
c.10644C>T (p.Leu3548=)
c.798C>T (p.Leu266=)
c.2000C>T
c.32C>T
c.1741C>T
c.4135C>T (n.4135C>T)
c.10518C>T (p.Leu3506=)
n.4447C>T
c.10647C>T (p.Leu3549=)
2g.73572522A>CCA347284444ALMS1c.10264A>C (p.Ser3422Arg)
c.3350A>C
c.7545A>C
c.4711A>C (p.Ser1571Arg)
c.7590A>C
c.10645A>C (p.Ser3549Arg)
c.799A>C (p.Ser267Arg)
c.2001A>C
c.33A>C
c.1742A>C
c.4136A>C (n.4136A>C)
c.10519A>C (p.Ser3507Arg)
n.4448A>C
c.10648A>C (p.Ser3550Arg)
2g.73572522A>GCA347284446ALMS1c.10264A>G (p.Ser3422Gly)
c.3350A>G
c.7545A>G
c.4711A>G (p.Ser1571Gly)
c.7590A>G
c.10645A>G (p.Ser3549Gly)
c.799A>G (p.Ser267Gly)
c.2001A>G
c.33A>G
c.1742A>G
c.4136A>G (n.4136A>G)
c.10519A>G (p.Ser3507Gly)
n.4448A>G
c.10648A>G (p.Ser3550Gly)
2g.73572522A>TCA347284448ALMS1c.10264A>T (p.Ser3422Cys)
c.3350A>T
c.7545A>T
c.4711A>T (p.Ser1571Cys)
c.7590A>T
c.10645A>T (p.Ser3549Cys)
c.799A>T (p.Ser267Cys)
c.2001A>T
c.33A>T
c.1742A>T
c.4136A>T (n.4136A>T)
c.10519A>T (p.Ser3507Cys)
n.4448A>T
c.10648A>T (p.Ser3550Cys)
2g.73572523G>ACA347284451ALMS1c.10265G>A (p.Ser3422Asn)
c.3351G>A
c.7546G>A
c.4712G>A (p.Ser1571Asn)
c.7591G>A
c.10646G>A (p.Ser3549Asn)
c.800G>A (p.Ser267Asn)
c.2002G>A
c.34G>A
c.1743G>A
c.4137G>A (n.4137G>A)
c.10520G>A (p.Ser3507Asn)
n.4449G>A
c.10649G>A (p.Ser3550Asn)
2g.73572523G>CCA347284453ALMS1c.10265G>C (p.Ser3422Thr)
c.3351G>C
c.7546G>C
c.4712G>C (p.Ser1571Thr)
c.7591G>C
c.10646G>C (p.Ser3549Thr)
c.800G>C (p.Ser267Thr)
c.2002G>C
c.34G>C
c.1743G>C
c.4137G>C (n.4137G>C)
c.10520G>C (p.Ser3507Thr)
n.4449G>C
c.10649G>C (p.Ser3550Thr)
2g.73572523G>TCA347284456ALMS1c.10265G>T (p.Ser3422Ile)
c.3351G>T
c.7546G>T
c.4712G>T (p.Ser1571Ile)
c.7591G>T
c.10646G>T (p.Ser3549Ile)
c.800G>T (p.Ser267Ile)
c.2002G>T
c.34G>T
c.1743G>T
c.4137G>T (n.4137G>T)
c.10520G>T (p.Ser3507Ile)
n.4449G>T
c.10649G>T (p.Ser3550Ile)
2g.73572524C>ACA347284461ALMS1c.10266C>A (p.Ser3422Arg)
c.3352C>A
c.7547C>A
c.4713C>A (p.Ser1571Arg)
c.7592C>A
c.10647C>A (p.Ser3549Arg)
c.801C>A (p.Ser267Arg)
c.2003C>A
c.35C>A
c.1744C>A
c.4138C>A (n.4138C>A)
c.10521C>A (p.Ser3507Arg)
n.4450C>A
c.10650C>A (p.Ser3550Arg)
2g.73572524C=CA1261021252ALMS1c.10266C= (p.Ser3422=)
c.3352C=
c.7547C=
c.4713C= (p.Ser1571=)
c.7592C=
c.10647C= (p.Ser3549=)
c.801C= (p.Ser267=)
c.2003C=
c.35C=
c.1744C=
c.4138C= (n.4138C=)
c.10521C= (p.Ser3507=)
n.4450C=
c.10650C= (p.Ser3550=)
2g.73572524C>GCA347284463ALMS1c.10266C>G (p.Ser3422Arg)
c.3352C>G
c.7547C>G
c.4713C>G (p.Ser1571Arg)
c.7592C>G
c.10647C>G (p.Ser3549Arg)
c.801C>G (p.Ser267Arg)
c.2003C>G
c.35C>G
c.1744C>G
c.4138C>G (n.4138C>G)
c.10521C>G (p.Ser3507Arg)
n.4450C>G
c.10650C>G (p.Ser3550Arg)
2g.73572524C>TCA50386340ALMS1c.10266C>T (p.Ser3422=)
c.3352C>T
c.7547C>T
c.4713C>T (p.Ser1571=)
c.7592C>T
c.10647C>T (p.Ser3549=)
c.801C>T (p.Ser267=)
c.2003C>T
c.35C>T
c.1744C>T
c.4138C>T (n.4138C>T)
c.10521C>T (p.Ser3507=)
n.4450C>T
c.10650C>T (p.Ser3550=)
 dbSNP gnomAD v3 gnomAD v4
2g.73572525A=CA1261021254ALMS1c.10267A= (p.Ile3423=)
c.3353A=
c.7548A=
c.4714A= (p.Ile1572=)
c.7593A=
c.10648A= (p.Ile3550=)
c.802A= (p.Ile268=)
c.2004A=
c.36A=
c.1745A=
c.4139A= (n.4139A=)
c.10522A= (p.Ile3508=)
n.4451A=
c.10651A= (p.Ile3551=)
2g.73572525A>CCA1715039ALMS1c.10267A>C (p.Ile3423Leu)
c.3353A>C
c.7548A>C
c.4714A>C (p.Ile1572Leu)
c.7593A>C
c.10648A>C (p.Ile3550Leu)
c.802A>C (p.Ile268Leu)
c.2004A>C
c.36A>C
c.1745A>C
c.4139A>C (n.4139A>C)
c.10522A>C (p.Ile3508Leu)
n.4451A>C
c.10651A>C (p.Ile3551Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572525A>GCA347284474ALMS1c.10267A>G (p.Ile3423Val)
c.3353A>G
c.7548A>G
c.4714A>G (p.Ile1572Val)
c.7593A>G
c.10648A>G (p.Ile3550Val)
c.802A>G (p.Ile268Val)
c.2004A>G
c.36A>G
c.1745A>G
c.4139A>G (n.4139A>G)
c.10522A>G (p.Ile3508Val)
n.4451A>G
c.10651A>G (p.Ile3551Val)
 dbSNP gnomAD v4
2g.73572525A>TCA347284470ALMS1c.10267A>T (p.Ile3423Phe)
c.3353A>T
c.7548A>T
c.4714A>T (p.Ile1572Phe)
c.7593A>T
c.10648A>T (p.Ile3550Phe)
c.802A>T (p.Ile268Phe)
c.2004A>T
c.36A>T
c.1745A>T
c.4139A>T (n.4139A>T)
c.10522A>T (p.Ile3508Phe)
n.4451A>T
c.10651A>T (p.Ile3551Phe)
2g.73572526T>ACA347284481ALMS1c.10268T>A (p.Ile3423Asn)
c.3354T>A
c.7549T>A
c.4715T>A (p.Ile1572Asn)
c.7594T>A
c.10649T>A (p.Ile3550Asn)
c.803T>A (p.Ile268Asn)
c.2005T>A
c.37T>A
c.1746T>A
c.4140T>A (n.4140T>A)
c.10523T>A (p.Ile3508Asn)
n.4452T>A
c.10652T>A (p.Ile3551Asn)
2g.73572526T>CCA347284490ALMS1c.10268T>C (p.Ile3423Thr)
c.3354T>C
c.7549T>C
c.4715T>C (p.Ile1572Thr)
c.7594T>C
c.10649T>C (p.Ile3550Thr)
c.803T>C (p.Ile268Thr)
c.2005T>C
c.37T>C
c.1746T>C
c.4140T>C (n.4140T>C)
c.10523T>C (p.Ile3508Thr)
n.4452T>C
c.10652T>C (p.Ile3551Thr)
2g.73572526T>GCA347284486ALMS1c.10268T>G (p.Ile3423Ser)
c.3354T>G
c.7549T>G
c.4715T>G (p.Ile1572Ser)
c.7594T>G
c.10649T>G (p.Ile3550Ser)
c.803T>G (p.Ile268Ser)
c.2005T>G
c.37T>G
c.1746T>G
c.4140T>G (n.4140T>G)
c.10523T>G (p.Ile3508Ser)
n.4452T>G
c.10652T>G (p.Ile3551Ser)
2g.73572527C>ACA427024089ALMS1c.10269C>A (p.Ile3423=)
c.3355C>A
c.7550C>A
c.4716C>A (p.Ile1572=)
c.7595C>A
c.10650C>A (p.Ile3550=)
c.804C>A (p.Ile268=)
c.2006C>A
c.38C>A
c.1747C>A
c.4141C>A (n.4141C>A)
c.10524C>A (p.Ile3508=)
n.4453C>A
c.10653C>A (p.Ile3551=)
 dbSNP
2g.73572527C=CA1261021255ALMS1c.10269C= (p.Ile3423=)
c.3355C=
c.7550C=
c.4716C= (p.Ile1572=)
c.7595C=
c.10650C= (p.Ile3550=)
c.804C= (p.Ile268=)
c.2006C=
c.38C=
c.1747C=
c.4141C= (n.4141C=)
c.10524C= (p.Ile3508=)
n.4453C=
c.10653C= (p.Ile3551=)
2g.73572527C>GCA347284494ALMS1c.10269C>G (p.Ile3423Met)
c.3355C>G
c.7550C>G
c.4716C>G (p.Ile1572Met)
c.7595C>G
c.10650C>G (p.Ile3550Met)
c.804C>G (p.Ile268Met)
c.2006C>G
c.38C>G
c.1747C>G
c.4141C>G (n.4141C>G)
c.10524C>G (p.Ile3508Met)
n.4453C>G
c.10653C>G (p.Ile3551Met)
2g.73572527C>TCA427024090ALMS1c.10269C>T (p.Ile3423=)
c.3355C>T
c.7550C>T
c.4716C>T (p.Ile1572=)
c.7595C>T
c.10650C>T (p.Ile3550=)
c.804C>T (p.Ile268=)
c.2006C>T
c.38C>T
c.1747C>T
c.4141C>T (n.4141C>T)
c.10524C>T (p.Ile3508=)
n.4453C>T
c.10653C>T (p.Ile3551=)
 dbSNP
2g.73572528A=CA1261021256ALMS1c.10270A= (p.Asn3424=)
c.3356A=
c.7551A=
c.4717A= (p.Asn1573=)
c.7596A=
c.10651A= (p.Asn3551=)
c.805A= (p.Asn269=)
c.2007A=
c.39A=
c.1748A=
c.4142A= (n.4142A=)
c.10525A= (p.Asn3509=)
n.4454A=
c.10654A= (p.Asn3552=)
2g.73572528A>CCA347284505ALMS1c.10270A>C (p.Asn3424His)
c.3356A>C
c.7551A>C
c.4717A>C (p.Asn1573His)
c.7596A>C
c.10651A>C (p.Asn3551His)
c.805A>C (p.Asn269His)
c.2007A>C
c.39A>C
c.1748A>C
c.4142A>C (n.4142A>C)
c.10525A>C (p.Asn3509His)
n.4454A>C
c.10654A>C (p.Asn3552His)
2g.73572528A>GCA1715040ALMS1c.10270A>G (p.Asn3424Asp)
c.3356A>G
c.7551A>G
c.4717A>G (p.Asn1573Asp)
c.7596A>G
c.10651A>G (p.Asn3551Asp)
c.805A>G (p.Asn269Asp)
c.2007A>G
c.39A>G
c.1748A>G
c.4142A>G (n.4142A>G)
c.10525A>G (p.Asn3509Asp)
n.4454A>G
c.10654A>G (p.Asn3552Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572528A>TCA347284503ALMS1c.10270A>T (p.Asn3424Tyr)
c.3356A>T
c.7551A>T
c.4717A>T (p.Asn1573Tyr)
c.7596A>T
c.10651A>T (p.Asn3551Tyr)
c.805A>T (p.Asn269Tyr)
c.2007A>T
c.39A>T
c.1748A>T
c.4142A>T (n.4142A>T)
c.10525A>T (p.Asn3509Tyr)
n.4454A>T
c.10654A>T (p.Asn3552Tyr)
2g.73572529dupCA1261021257ALMS1c.10271dup (p.Asn3424LysfsTer14)
c.3357dup
c.7552dup
c.4718dup (p.Asn1573LysfsTer14)
c.7597dup
c.10652dup (p.Asn3551LysfsTer14)
c.806dup (p.Asn269LysfsTer14)
c.2008dup
c.40dup
c.1749dup
c.4143dup (n.4143dup)
c.10526dup (p.Asn3509LysfsTer14)
n.4455dup
c.10655dup (p.Asn3552LysfsTer14)
 ClinVar dbSNP gnomAD v4
2g.73572529A=CA1261021258ALMS1c.10271A= (p.Asn3424=)
c.3357A=
c.7552A=
c.4718A= (p.Asn1573=)
c.7597A=
c.10652A= (p.Asn3551=)
c.806A= (p.Asn269=)
c.2008A=
c.40A=
c.1749A=
c.4143A= (n.4143A=)
c.10526A= (p.Asn3509=)
n.4455A=
c.10655A= (p.Asn3552=)
2g.73572529A>CCA347284511ALMS1c.10271A>C (p.Asn3424Thr)
c.3357A>C
c.7552A>C
c.4718A>C (p.Asn1573Thr)
c.7597A>C
c.10652A>C (p.Asn3551Thr)
c.806A>C (p.Asn269Thr)
c.2008A>C
c.40A>C
c.1749A>C
c.4143A>C (n.4143A>C)
c.10526A>C (p.Asn3509Thr)
n.4455A>C
c.10655A>C (p.Asn3552Thr)
2g.73572529A>GCA50386346ALMS1c.10271A>G (p.Asn3424Ser)
c.3357A>G
c.7552A>G
c.4718A>G (p.Asn1573Ser)
c.7597A>G
c.10652A>G (p.Asn3551Ser)
c.806A>G (p.Asn269Ser)
c.2008A>G
c.40A>G
c.1749A>G
c.4143A>G (n.4143A>G)
c.10526A>G (p.Asn3509Ser)
n.4455A>G
c.10655A>G (p.Asn3552Ser)
 ClinVar dbSNP gnomAD v4
2g.73572529A>TCA347284516ALMS1c.10271A>T (p.Asn3424Ile)
c.3357A>T
c.7552A>T
c.4718A>T (p.Asn1573Ile)
c.7597A>T
c.10652A>T (p.Asn3551Ile)
c.806A>T (p.Asn269Ile)
c.2008A>T
c.40A>T
c.1749A>T
c.4143A>T (n.4143A>T)
c.10526A>T (p.Asn3509Ile)
n.4455A>T
c.10655A>T (p.Asn3552Ile)
 dbSNP
2g.73572530T>ACA347284519ALMS1c.10272T>A (p.Asn3424Lys)
c.3358T>A
c.7553T>A
c.4719T>A (p.Asn1573Lys)
c.7598T>A
c.10653T>A (p.Asn3551Lys)
c.807T>A (p.Asn269Lys)
c.2009T>A
c.41T>A
c.1750T>A
c.4144T>A (n.4144T>A)
c.10527T>A (p.Asn3509Lys)
n.4456T>A
c.10656T>A (p.Asn3552Lys)
2g.73572530T>CCA427024096ALMS1c.10272T>C (p.Asn3424=)
c.3358T>C
c.7553T>C
c.4719T>C (p.Asn1573=)
c.7598T>C
c.10653T>C (p.Asn3551=)
c.807T>C (p.Asn269=)
c.2009T>C
c.41T>C
c.1750T>C
c.4144T>C (n.4144T>C)
c.10527T>C (p.Asn3509=)
n.4456T>C
c.10656T>C (p.Asn3552=)
2g.73572530T>GCA347284521ALMS1c.10272T>G (p.Asn3424Lys)
c.3358T>G
c.7553T>G
c.4719T>G (p.Asn1573Lys)
c.7598T>G
c.10653T>G (p.Asn3551Lys)
c.807T>G (p.Asn269Lys)
c.2009T>G
c.41T>G
c.1750T>G
c.4144T>G (n.4144T>G)
c.10527T>G (p.Asn3509Lys)
n.4456T>G
c.10656T>G (p.Asn3552Lys)
2g.73572530_73572531insACACA2750467773ALMS1c.10272_10273insACA (p.Asn3424_Val3425insThr)
c.3358_3359insACA
c.7553_7554insACA
c.4719_4720insACA (p.Asn1573_Val1574insThr)
c.7598_7599insACA
c.10653_10654insACA (p.Asn3551_Val3552insThr)
c.807_808insACA (p.Asn269_Val270insThr)
c.2009_2010insACA
c.41_42insACA
c.1750_1751insACA
c.4144_4145insACA (n.4144_4145insACA)
c.10527_10528insACA (p.Asn3509_Val3510insThr)
n.4456_4457insACA
c.10656_10657insACA (p.Asn3552_Val3553insThr)
2g.73572531G>ACA347284525ALMS1c.10273G>A (p.Val3425Met)
c.3359G>A
c.7554G>A
c.4720G>A (p.Val1574Met)
c.7599G>A
c.10654G>A (p.Val3552Met)
c.808G>A (p.Val270Met)
c.2010G>A
c.42G>A
c.1751G>A
c.4145G>A (n.4145G>A)
c.10528G>A (p.Val3510Met)
n.4457G>A
c.10657G>A (p.Val3553Met)
 gnomAD v4
2g.73572531G>CCA347284529ALMS1c.10273G>C (p.Val3425Leu)
c.3359G>C
c.7554G>C
c.4720G>C (p.Val1574Leu)
c.7599G>C
c.10654G>C (p.Val3552Leu)
c.808G>C (p.Val270Leu)
c.2010G>C
c.42G>C
c.1751G>C
c.4145G>C (n.4145G>C)
c.10528G>C (p.Val3510Leu)
n.4457G>C
c.10657G>C (p.Val3553Leu)
2g.73572531G>TCA347284530ALMS1c.10273G>T (p.Val3425Leu)
c.3359G>T
c.7554G>T
c.4720G>T (p.Val1574Leu)
c.7599G>T
c.10654G>T (p.Val3552Leu)
c.808G>T (p.Val270Leu)
c.2010G>T
c.42G>T
c.1751G>T
c.4145G>T (n.4145G>T)
c.10528G>T (p.Val3510Leu)
n.4457G>T
c.10657G>T (p.Val3553Leu)
 gnomAD v4
2g.73572532T>ACA347284534ALMS1c.10274T>A (p.Val3425Glu)
c.3360T>A
c.7555T>A
c.4721T>A (p.Val1574Glu)
c.7600T>A
c.10655T>A (p.Val3552Glu)
c.809T>A (p.Val270Glu)
c.2011T>A
c.43T>A
c.1752T>A
c.4146T>A (n.4146T>A)
c.10529T>A (p.Val3510Glu)
n.4458T>A
c.10658T>A (p.Val3553Glu)
2g.73572532T>CCA347284535ALMS1c.10274T>C (p.Val3425Ala)
c.3360T>C
c.7555T>C
c.4721T>C (p.Val1574Ala)
c.7600T>C
c.10655T>C (p.Val3552Ala)
c.809T>C (p.Val270Ala)
c.2011T>C
c.43T>C
c.1752T>C
c.4146T>C (n.4146T>C)
c.10529T>C (p.Val3510Ala)
n.4458T>C
c.10658T>C (p.Val3553Ala)
2g.73572532T>GCA347284537ALMS1c.10274T>G (p.Val3425Gly)
c.3360T>G
c.7555T>G
c.4721T>G (p.Val1574Gly)
c.7600T>G
c.10655T>G (p.Val3552Gly)
c.809T>G (p.Val270Gly)
c.2011T>G
c.43T>G
c.1752T>G
c.4146T>G (n.4146T>G)
c.10529T>G (p.Val3510Gly)
n.4458T>G
c.10658T>G (p.Val3553Gly)
2g.73572533G>ACA427024102ALMS1c.10275G>A (p.Val3425=)
c.3361G>A
c.7556G>A
c.4722G>A (p.Val1574=)
c.7601G>A
c.10656G>A (p.Val3552=)
c.810G>A (p.Val270=)
c.2012G>A
c.44G>A
c.1753G>A
c.4147G>A (n.4147G>A)
c.10530G>A (p.Val3510=)
n.4459G>A
c.10659G>A (p.Val3553=)
 ClinVar dbSNP
2g.73572533G>CCA427024103ALMS1c.10275G>C (p.Val3425=)
c.3361G>C
c.7556G>C
c.4722G>C (p.Val1574=)
c.7601G>C
c.10656G>C (p.Val3552=)
c.810G>C (p.Val270=)
c.2012G>C
c.44G>C
c.1753G>C
c.4147G>C (n.4147G>C)
c.10530G>C (p.Val3510=)
n.4459G>C
c.10659G>C (p.Val3553=)
2g.73572533G>TCA427024105ALMS1c.10275G>T (p.Val3425=)
c.3361G>T
c.7556G>T
c.4722G>T (p.Val1574=)
c.7601G>T
c.10656G>T (p.Val3552=)
c.810G>T (p.Val270=)
c.2012G>T
c.44G>T
c.1753G>T
c.4147G>T (n.4147G>T)
c.10530G>T (p.Val3510=)
n.4459G>T
c.10659G>T (p.Val3553=)
 gnomAD v4
2g.73572534A>CCA347284541ALMS1c.10276A>C (p.Asn3426His)
c.3362A>C
c.7557A>C
c.4723A>C (p.Asn1575His)
c.7602A>C
c.10657A>C (p.Asn3553His)
c.811A>C (p.Asn271His)
c.2013A>C
c.45A>C
c.1754A>C
c.4148A>C (n.4148A>C)
c.10531A>C (p.Asn3511His)
n.4460A>C
c.10660A>C (p.Asn3554His)
2g.73572534A>GCA347284547ALMS1c.10276A>G (p.Asn3426Asp)
c.3362A>G
c.7557A>G
c.4723A>G (p.Asn1575Asp)
c.7602A>G
c.10657A>G (p.Asn3553Asp)
c.811A>G (p.Asn271Asp)
c.2013A>G
c.45A>G
c.1754A>G
c.4148A>G (n.4148A>G)
c.10531A>G (p.Asn3511Asp)
n.4460A>G
c.10660A>G (p.Asn3554Asp)
2g.73572534A>TCA347284543ALMS1c.10276A>T (p.Asn3426Tyr)
c.3362A>T
c.7557A>T
c.4723A>T (p.Asn1575Tyr)
c.7602A>T
c.10657A>T (p.Asn3553Tyr)
c.811A>T (p.Asn271Tyr)
c.2013A>T
c.45A>T
c.1754A>T
c.4148A>T (n.4148A>T)
c.10531A>T (p.Asn3511Tyr)
n.4460A>T
c.10660A>T (p.Asn3554Tyr)
2g.73572535A>CCA347284553ALMS1c.10277A>C (p.Asn3426Thr)
c.3363A>C
c.7558A>C
c.4724A>C (p.Asn1575Thr)
c.7603A>C
c.10658A>C (p.Asn3553Thr)
c.812A>C (p.Asn271Thr)
c.2014A>C
c.46A>C
c.1755A>C
c.4149A>C (n.4149A>C)
c.10532A>C (p.Asn3511Thr)
n.4461A>C
c.10661A>C (p.Asn3554Thr)
2g.73572535A>GCA347284556ALMS1c.10277A>G (p.Asn3426Ser)
c.3363A>G
c.7558A>G
c.4724A>G (p.Asn1575Ser)
c.7603A>G
c.10658A>G (p.Asn3553Ser)
c.812A>G (p.Asn271Ser)
c.2014A>G
c.46A>G
c.1755A>G
c.4149A>G (n.4149A>G)
c.10532A>G (p.Asn3511Ser)
n.4461A>G
c.10661A>G (p.Asn3554Ser)
2g.73572535A>TCA347284558ALMS1c.10277A>T (p.Asn3426Ile)
c.3363A>T
c.7558A>T
c.4724A>T (p.Asn1575Ile)
c.7603A>T
c.10658A>T (p.Asn3553Ile)
c.812A>T (p.Asn271Ile)
c.2014A>T
c.46A>T
c.1755A>T
c.4149A>T (n.4149A>T)
c.10532A>T (p.Asn3511Ile)
n.4461A>T
c.10661A>T (p.Asn3554Ile)
2g.73572536T>ACA347284562ALMS1c.10278T>A (p.Asn3426Lys)
c.3364T>A
c.7559T>A
c.4725T>A (p.Asn1575Lys)
c.7604T>A
c.10659T>A (p.Asn3553Lys)
c.813T>A (p.Asn271Lys)
c.2015T>A
c.47T>A
c.1756T>A
c.4150T>A (n.4150T>A)
c.10533T>A (p.Asn3511Lys)
n.4462T>A
c.10662T>A (p.Asn3554Lys)
2g.73572536T>CCA427024113ALMS1c.10278T>C (p.Asn3426=)
c.3364T>C
c.7559T>C
c.4725T>C (p.Asn1575=)
c.7604T>C
c.10659T>C (p.Asn3553=)
c.813T>C (p.Asn271=)
c.2015T>C
c.47T>C
c.1756T>C
c.4150T>C (n.4150T>C)
c.10533T>C (p.Asn3511=)
n.4462T>C
c.10662T>C (p.Asn3554=)
2g.73572536T>GCA347284566ALMS1c.10278T>G (p.Asn3426Lys)
c.3364T>G
c.7559T>G
c.4725T>G (p.Asn1575Lys)
c.7604T>G
c.10659T>G (p.Asn3553Lys)
c.813T>G (p.Asn271Lys)
c.2015T>G
c.47T>G
c.1756T>G
c.4150T>G (n.4150T>G)
c.10533T>G (p.Asn3511Lys)
n.4462T>G
c.10662T>G (p.Asn3554Lys)
2g.73572537T>ACA347284570ALMS1c.10279T>A (p.Leu3427Met)
c.3365T>A
c.7560T>A
c.4726T>A (p.Leu1576Met)
c.7605T>A
c.10660T>A (p.Leu3554Met)
c.814T>A (p.Leu272Met)
c.2016T>A
c.48T>A
c.1757T>A
c.4151T>A (n.4151T>A)
c.10534T>A (p.Leu3512Met)
n.4463T>A
c.10663T>A (p.Leu3555Met)
2g.73572537T>CCA427024114ALMS1c.10279T>C (p.Leu3427=)
c.3365T>C
c.7560T>C
c.4726T>C (p.Leu1576=)
c.7605T>C
c.10660T>C (p.Leu3554=)
c.814T>C (p.Leu272=)
c.2016T>C
c.48T>C
c.1757T>C
c.4151T>C (n.4151T>C)
c.10534T>C (p.Leu3512=)
n.4463T>C
c.10663T>C (p.Leu3555=)
 ClinVar
2g.73572537T>GCA347284572ALMS1c.10279T>G (p.Leu3427Val)
c.3365T>G
c.7560T>G
c.4726T>G (p.Leu1576Val)
c.7605T>G
c.10660T>G (p.Leu3554Val)
c.814T>G (p.Leu272Val)
c.2016T>G
c.48T>G
c.1757T>G
c.4151T>G (n.4151T>G)
c.10534T>G (p.Leu3512Val)
n.4463T>G
c.10663T>G (p.Leu3555Val)
2g.73572538T>ACA347284577ALMS1c.10280T>A (p.Leu3427Ter)
c.3366T>A
c.7561T>A
c.4727T>A (p.Leu1576Ter)
c.7606T>A
c.10661T>A (p.Leu3554Ter)
c.815T>A (p.Leu272Ter)
c.2017T>A
c.49T>A
c.1758T>A
c.4152T>A (n.4152T>A)
c.10535T>A (p.Leu3512Ter)
n.4464T>A
c.10664T>A (p.Leu3555Ter)
2g.73572538T>CCA347284579ALMS1c.10280T>C (p.Leu3427Ser)
c.3366T>C
c.7561T>C
c.4727T>C (p.Leu1576Ser)
c.7606T>C
c.10661T>C (p.Leu3554Ser)
c.815T>C (p.Leu272Ser)
c.2017T>C
c.49T>C
c.1758T>C
c.4152T>C (n.4152T>C)
c.10535T>C (p.Leu3512Ser)
n.4464T>C
c.10664T>C (p.Leu3555Ser)
2g.73572538T>GCA347284581ALMS1c.10280T>G (p.Leu3427Trp)
c.3366T>G
c.7561T>G
c.4727T>G (p.Leu1576Trp)
c.7606T>G
c.10661T>G (p.Leu3554Trp)
c.815T>G (p.Leu272Trp)
c.2017T>G
c.49T>G
c.1758T>G
c.4152T>G (n.4152T>G)
c.10535T>G (p.Leu3512Trp)
n.4464T>G
c.10664T>G (p.Leu3555Trp)
2g.73572539G>ACA427024121ALMS1c.10281G>A (p.Leu3427=)
c.3367G>A
c.7562G>A
c.4728G>A (p.Leu1576=)
c.7607G>A
c.10662G>A (p.Leu3554=)
c.816G>A (p.Leu272=)
c.2018G>A
c.50G>A
c.1759G>A
c.4153G>A (n.4153G>A)
c.10536G>A (p.Leu3512=)
n.4465G>A
c.10665G>A (p.Leu3555=)
 dbSNP
2g.73572539G>CCA347284587ALMS1c.10281G>C (p.Leu3427Phe)
c.3367G>C
c.7562G>C
c.4728G>C (p.Leu1576Phe)
c.7607G>C
c.10662G>C (p.Leu3554Phe)
c.816G>C (p.Leu272Phe)
c.2018G>C
c.50G>C
c.1759G>C
c.4153G>C (n.4153G>C)
c.10536G>C (p.Leu3512Phe)
n.4465G>C
c.10665G>C (p.Leu3555Phe)
2g.73572539G=CA1261021259ALMS1c.10281G= (p.Leu3427=)
c.3367G=
c.7562G=
c.4728G= (p.Leu1576=)
c.7607G=
c.10662G= (p.Leu3554=)
c.816G= (p.Leu272=)
c.2018G=
c.50G=
c.1759G=
c.4153G= (n.4153G=)
c.10536G= (p.Leu3512=)
n.4465G=
c.10665G= (p.Leu3555=)
2g.73572539G>TCA347284583ALMS1c.10281G>T (p.Leu3427Phe)
c.3367G>T
c.7562G>T
c.4728G>T (p.Leu1576Phe)
c.7607G>T
c.10662G>T (p.Leu3554Phe)
c.816G>T (p.Leu272Phe)
c.2018G>T
c.50G>T
c.1759G>T
c.4153G>T (n.4153G>T)
c.10536G>T (p.Leu3512Phe)
n.4465G>T
c.10665G>T (p.Leu3555Phe)
2g.73572541delCA501086ALMS1c.10283del (p.Gly3428GlufsTer5)
c.3369del
c.7564del
c.4730del (p.Gly1577GlufsTer5)
c.7609del
c.10664del (p.Gly3555GlufsTer5)
c.818del (p.Gly273GlufsTer5)
c.2020del
c.52del
c.1761del
c.4155del (n.4155del)
c.10538del (p.Gly3513GlufsTer5)
n.4467del
c.10667del (p.Gly3556GlufsTer5)
2g.73572540G>ACA347284589ALMS1c.10282G>A (p.Gly3428Arg)
c.3368G>A
c.7563G>A
c.4729G>A (p.Gly1577Arg)
c.7608G>A
c.10663G>A (p.Gly3555Arg)
c.817G>A (p.Gly273Arg)
c.2019G>A
c.51G>A
c.1760G>A
c.4154G>A (n.4154G>A)
c.10537G>A (p.Gly3513Arg)
n.4466G>A
c.10666G>A (p.Gly3556Arg)
2g.73572540G>CCA347284591ALMS1c.10282G>C (p.Gly3428Arg)
c.3368G>C
c.7563G>C
c.4729G>C (p.Gly1577Arg)
c.7608G>C
c.10663G>C (p.Gly3555Arg)
c.817G>C (p.Gly273Arg)
c.2019G>C
c.51G>C
c.1760G>C
c.4154G>C (n.4154G>C)
c.10537G>C (p.Gly3513Arg)
n.4466G>C
c.10666G>C (p.Gly3556Arg)
2g.73572540G>TCA347284593ALMS1c.10282G>T (p.Gly3428Ter)
c.3368G>T
c.7563G>T
c.4729G>T (p.Gly1577Ter)
c.7608G>T
c.10663G>T (p.Gly3555Ter)
c.817G>T (p.Gly273Ter)
c.2019G>T
c.51G>T
c.1760G>T
c.4154G>T (n.4154G>T)
c.10537G>T (p.Gly3513Ter)
n.4466G>T
c.10666G>T (p.Gly3556Ter)
2g.73572541G>ACA347284596ALMS1c.10283G>A (p.Gly3428Glu)
c.3369G>A
c.7564G>A
c.4730G>A (p.Gly1577Glu)
c.7609G>A
c.10664G>A (p.Gly3555Glu)
c.818G>A (p.Gly273Glu)
c.2020G>A
c.52G>A
c.1761G>A
c.4155G>A (n.4155G>A)
c.10538G>A (p.Gly3513Glu)
n.4467G>A
c.10667G>A (p.Gly3556Glu)
2g.73572541G>CCA347284598ALMS1c.10283G>C (p.Gly3428Ala)
c.3369G>C
c.7564G>C
c.4730G>C (p.Gly1577Ala)
c.7609G>C
c.10664G>C (p.Gly3555Ala)
c.818G>C (p.Gly273Ala)
c.2020G>C
c.52G>C
c.1761G>C
c.4155G>C (n.4155G>C)
c.10538G>C (p.Gly3513Ala)
n.4467G>C
c.10667G>C (p.Gly3556Ala)
2g.73572541G>TCA347284600ALMS1c.10283G>T (p.Gly3428Val)
c.3369G>T
c.7564G>T
c.4730G>T (p.Gly1577Val)
c.7609G>T
c.10664G>T (p.Gly3555Val)
c.818G>T (p.Gly273Val)
c.2020G>T
c.52G>T
c.1761G>T
c.4155G>T (n.4155G>T)
c.10538G>T (p.Gly3513Val)
n.4467G>T
c.10667G>T (p.Gly3556Val)
2g.73572542A=CA1261021260ALMS1c.10284A= (p.Gly3428=)
c.3370A=
c.7565A=
c.4731A= (p.Gly1577=)
c.7610A=
c.10665A= (p.Gly3555=)
c.819A= (p.Gly273=)
c.2021A=
c.53A=
c.1762A=
c.4156A= (n.4156A=)
c.10539A= (p.Gly3513=)
n.4468A=
c.10668A= (p.Gly3556=)
2g.73572542A>CCA427024128ALMS1c.10284A>C (p.Gly3428=)
c.3370A>C
c.7565A>C
c.4731A>C (p.Gly1577=)
c.7610A>C
c.10665A>C (p.Gly3555=)
c.819A>C (p.Gly273=)
c.2021A>C
c.53A>C
c.1762A>C
c.4156A>C (n.4156A>C)
c.10539A>C (p.Gly3513=)
n.4468A>C
c.10668A>C (p.Gly3556=)
 ClinVar dbSNP
2g.73572542A>GCA427024130ALMS1c.10284A>G (p.Gly3428=)
c.3370A>G
c.7565A>G
c.4731A>G (p.Gly1577=)
c.7610A>G
c.10665A>G (p.Gly3555=)
c.819A>G (p.Gly273=)
c.2021A>G
c.53A>G
c.1762A>G
c.4156A>G (n.4156A>G)
c.10539A>G (p.Gly3513=)
n.4468A>G
c.10668A>G (p.Gly3556=)
2g.73572542A>TCA427024131ALMS1c.10284A>T (p.Gly3428=)
c.3370A>T
c.7565A>T
c.4731A>T (p.Gly1577=)
c.7610A>T
c.10665A>T (p.Gly3555=)
c.819A>T (p.Gly273=)
c.2021A>T
c.53A>T
c.1762A>T
c.4156A>T (n.4156A>T)
c.10539A>T (p.Gly3513=)
n.4468A>T
c.10668A>T (p.Gly3556=)
2g.73572543_73572544delCA2577005217ALMS1c.10285_10286del (p.Asn3429GlnfsTer8)
c.3371_3372del
c.7566_7567del
c.4732_4733del (p.Asn1578GlnfsTer8)
c.7611_7612del
c.10666_10667del (p.Asn3556GlnfsTer8)
c.820_821del (p.Asn274GlnfsTer8)
c.2022_2023del
c.54_55del
c.1763_1764del
c.4157_4158del (n.4157_4158del)
c.10540_10541del (p.Asn3514GlnfsTer8)
n.4469_4470del
c.10669_10670del (p.Asn3557GlnfsTer8)
2g.73572543A>CCA347284607ALMS1c.10285A>C (p.Asn3429His)
c.3371A>C
c.7566A>C
c.4732A>C (p.Asn1578His)
c.7611A>C
c.10666A>C (p.Asn3556His)
c.820A>C (p.Asn274His)
c.2022A>C
c.54A>C
c.1763A>C
c.4157A>C (n.4157A>C)
c.10540A>C (p.Asn3514His)
n.4469A>C
c.10669A>C (p.Asn3557His)
2g.73572543A>GCA347284604ALMS1c.10285A>G (p.Asn3429Asp)
c.3371A>G
c.7566A>G
c.4732A>G (p.Asn1578Asp)
c.7611A>G
c.10666A>G (p.Asn3556Asp)
c.820A>G (p.Asn274Asp)
c.2022A>G
c.54A>G
c.1763A>G
c.4157A>G (n.4157A>G)
c.10540A>G (p.Asn3514Asp)
n.4469A>G
c.10669A>G (p.Asn3557Asp)
 gnomAD v4
2g.73572543A>TCA347284605ALMS1c.10285A>T (p.Asn3429Tyr)
c.3371A>T
c.7566A>T
c.4732A>T (p.Asn1578Tyr)
c.7611A>T
c.10666A>T (p.Asn3556Tyr)
c.820A>T (p.Asn274Tyr)
c.2022A>T
c.54A>T
c.1763A>T
c.4157A>T (n.4157A>T)
c.10540A>T (p.Asn3514Tyr)
n.4469A>T
c.10669A>T (p.Asn3557Tyr)
2g.73572544A>CCA347284610ALMS1c.10286A>C (p.Asn3429Thr)
c.3372A>C
c.7567A>C
c.4733A>C (p.Asn1578Thr)
c.7612A>C
c.10667A>C (p.Asn3556Thr)
c.821A>C (p.Asn274Thr)
c.2023A>C
c.55A>C
c.1764A>C
c.4158A>C (n.4158A>C)
c.10541A>C (p.Asn3514Thr)
n.4470A>C
c.10670A>C (p.Asn3557Thr)
2g.73572544A>GCA347284611ALMS1c.10286A>G (p.Asn3429Ser)
c.3372A>G
c.7567A>G
c.4733A>G (p.Asn1578Ser)
c.7612A>G
c.10667A>G (p.Asn3556Ser)
c.821A>G (p.Asn274Ser)
c.2023A>G
c.55A>G
c.1764A>G
c.4158A>G (n.4158A>G)
c.10541A>G (p.Asn3514Ser)
n.4470A>G
c.10670A>G (p.Asn3557Ser)
2g.73572544A>TCA347284614ALMS1c.10286A>T (p.Asn3429Ile)
c.3372A>T
c.7567A>T
c.4733A>T (p.Asn1578Ile)
c.7612A>T
c.10667A>T (p.Asn3556Ile)
c.821A>T (p.Asn274Ile)
c.2023A>T
c.55A>T
c.1764A>T
c.4158A>T (n.4158A>T)
c.10541A>T (p.Asn3514Ile)
n.4470A>T
c.10670A>T (p.Asn3557Ile)
2g.73572545delCA2573135804ALMS1c.10287del (p.Asn3429LysfsTer4)
c.3373del
c.7568del
c.4734del (p.Asn1578LysfsTer4)
c.7613del
c.10668del (p.Asn3556LysfsTer4)
c.822del (p.Asn274LysfsTer4)
c.2024del
c.56del
c.1765del
c.4159del (n.4159del)
c.10542del (p.Asn3514LysfsTer4)
n.4471del
c.10671del (p.Asn3557LysfsTer4)
 ClinVar dbSNP
2g.73572545C>ACA347284617ALMS1c.10287C>A (p.Asn3429Lys)
c.3373C>A
c.7568C>A
c.4734C>A (p.Asn1578Lys)
c.7613C>A
c.10668C>A (p.Asn3556Lys)
c.822C>A (p.Asn274Lys)
c.2024C>A
c.56C>A
c.1765C>A
c.4159C>A (n.4159C>A)
c.10542C>A (p.Asn3514Lys)
n.4471C>A
c.10671C>A (p.Asn3557Lys)
2g.73572545C>GCA347284620ALMS1c.10287C>G (p.Asn3429Lys)
c.3373C>G
c.7568C>G
c.4734C>G (p.Asn1578Lys)
c.7613C>G
c.10668C>G (p.Asn3556Lys)
c.822C>G (p.Asn274Lys)
c.2024C>G
c.56C>G
c.1765C>G
c.4159C>G (n.4159C>G)
c.10542C>G (p.Asn3514Lys)
n.4471C>G
c.10671C>G (p.Asn3557Lys)
 ClinVar gnomAD v4
2g.73572545C>TCA427024135ALMS1c.10287C>T (p.Asn3429=)
c.3373C>T
c.7568C>T
c.4734C>T (p.Asn1578=)
c.7613C>T
c.10668C>T (p.Asn3556=)
c.822C>T (p.Asn274=)
c.2024C>T
c.56C>T
c.1765C>T
c.4159C>T (n.4159C>T)
c.10542C>T (p.Asn3514=)
n.4471C>T
c.10671C>T (p.Asn3557=)
2g.73572545_73572548delinsCAAACA1261021261ALMS1c.10287_10290delinsCAAA (p.Asn3429=)
c.3373_3376delinsCAAA
c.7568_7571delinsCAAA
c.4734_4737delinsCAAA (p.Asn1578=)
c.7613_7616delinsCAAA
c.10668_10671delinsCAAA (p.Asn3556=)
c.822_825delinsCAAA (p.Asn274=)
c.2024_2027delinsCAAA
c.56_59delinsCAAA
c.1765_1768delinsCAAA
c.4159_4162delinsCAAA (n.4159_4162delinsCAAA)
c.10542_10545delinsCAAA (p.Asn3514=)
n.4471_4474delinsCAAA
c.10671_10674delinsCAAA (p.Asn3557=)
2g.73572545_73572549delinsCAAAGCA1261021262ALMS1c.10287_10291delinsCAAAG (p.Asn3429=)
c.3373_3377delinsCAAAG
c.7568_7572delinsCAAAG
c.4734_4738delinsCAAAG (p.Asn1578=)
c.7613_7617delinsCAAAG
c.10668_10672delinsCAAAG (p.Asn3556=)
c.822_826delinsCAAAG (p.Asn274=)
c.2024_2028delinsCAAAG
c.56_60delinsCAAAG
c.1765_1769delinsCAAAG
c.4159_4163delinsCAAAG (n.4159_4163delinsCAAAG)
c.10542_10546delinsCAAAG (p.Asn3514=)
n.4471_4475delinsCAAAG
c.10671_10675delinsCAAAG (p.Asn3557=)
2g.73572546A>CCA347284625ALMS1c.10288A>C (p.Lys3430Gln)
c.3374A>C
c.7569A>C
c.4735A>C (p.Lys1579Gln)
c.7614A>C
c.10669A>C (p.Lys3557Gln)
c.823A>C (p.Lys275Gln)
c.2025A>C
c.57A>C
c.1766A>C
c.4160A>C (n.4160A>C)
c.10543A>C (p.Lys3515Gln)
n.4472A>C
c.10672A>C (p.Lys3558Gln)
2g.73572546A>GCA347284636ALMS1c.10288A>G (p.Lys3430Glu)
c.3374A>G
c.7569A>G
c.4735A>G (p.Lys1579Glu)
c.7614A>G
c.10669A>G (p.Lys3557Glu)
c.823A>G (p.Lys275Glu)
c.2025A>G
c.57A>G
c.1766A>G
c.4160A>G (n.4160A>G)
c.10543A>G (p.Lys3515Glu)
n.4472A>G
c.10672A>G (p.Lys3558Glu)
2g.73572546A>TCA347284632ALMS1c.10288A>T (p.Lys3430Ter)
c.3374A>T
c.7569A>T
c.4735A>T (p.Lys1579Ter)
c.7614A>T
c.10669A>T (p.Lys3557Ter)
c.823A>T (p.Lys275Ter)
c.2025A>T
c.57A>T
c.1766A>T
c.4160A>T (n.4160A>T)
c.10543A>T (p.Lys3515Ter)
n.4472A>T
c.10672A>T (p.Lys3558Ter)
2g.73572546_73572548delCA1715041ALMS1c.10288_10290del (p.Lys3430del)
c.3374_3376del
c.7569_7571del
c.4735_4737del (p.Lys1579del)
c.7614_7616del
c.10669_10671del (p.Lys3557del)
c.823_825del (p.Lys275del)
c.2025_2027del
c.57_59del
c.1766_1768del
c.4160_4162del (n.4160_4162del)
c.10543_10545del (p.Lys3515del)
n.4472_4474del
c.10672_10674del (p.Lys3558del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572548_73572551delCA892825931ALMS1c.10290_10293del (p.Glu3431Ter)
c.3376_3379del
c.7571_7574del
c.4737_4740del (p.Glu1580Ter)
c.7616_7619del
c.10671_10674del (p.Glu3558Ter)
c.825_828del (p.Glu276Ter)
c.2027_2030del
c.59_62del
c.1768_1771del
c.4162_4165del (n.4162_4165del)
c.10545_10548del (p.Glu3516Ter)
n.4474_4477del
c.10674_10677del (p.Glu3559Ter)
 ClinVar dbSNP gnomAD v4
2g.73572547A>CCA347284643ALMS1c.10289A>C (p.Lys3430Thr)
c.3375A>C
c.7570A>C
c.4736A>C (p.Lys1579Thr)
c.7615A>C
c.10670A>C (p.Lys3557Thr)
c.824A>C (p.Lys275Thr)
c.2026A>C
c.58A>C
c.1767A>C
c.4161A>C (n.4161A>C)
c.10544A>C (p.Lys3515Thr)
n.4473A>C
c.10673A>C (p.Lys3558Thr)
2g.73572547A>GCA347284647ALMS1c.10289A>G (p.Lys3430Arg)
c.3375A>G
c.7570A>G
c.4736A>G (p.Lys1579Arg)
c.7615A>G
c.10670A>G (p.Lys3557Arg)
c.824A>G (p.Lys275Arg)
c.2026A>G
c.58A>G
c.1767A>G
c.4161A>G (n.4161A>G)
c.10544A>G (p.Lys3515Arg)
n.4473A>G
c.10673A>G (p.Lys3558Arg)
 ClinVar
2g.73572547A>TCA347284651ALMS1c.10289A>T (p.Lys3430Ile)
c.3375A>T
c.7570A>T
c.4736A>T (p.Lys1579Ile)
c.7615A>T
c.10670A>T (p.Lys3557Ile)
c.824A>T (p.Lys275Ile)
c.2026A>T
c.58A>T
c.1767A>T
c.4161A>T (n.4161A>T)
c.10544A>T (p.Lys3515Ile)
n.4473A>T
c.10673A>T (p.Lys3558Ile)
2g.73572548A=CA1261021265ALMS1c.10290A= (p.Lys3430=)
c.3376A=
c.7571A=
c.4737A= (p.Lys1579=)
c.7616A=
c.10671A= (p.Lys3557=)
c.825A= (p.Lys275=)
c.2027A=
c.59A=
c.1768A=
c.4162A= (n.4162A=)
c.10545A= (p.Lys3515=)
n.4474A=
c.10674A= (p.Lys3558=)
2g.73572548A>CCA347284655ALMS1c.10290A>C (p.Lys3430Asn)
c.3376A>C
c.7571A>C
c.4737A>C (p.Lys1579Asn)
c.7616A>C
c.10671A>C (p.Lys3557Asn)
c.825A>C (p.Lys275Asn)
c.2027A>C
c.59A>C
c.1768A>C
c.4162A>C (n.4162A>C)
c.10545A>C (p.Lys3515Asn)
n.4474A>C
c.10674A>C (p.Lys3558Asn)
 ClinVar dbSNP gnomAD v4
2g.73572548A>GCA427024142ALMS1c.10290A>G (p.Lys3430=)
c.3376A>G
c.7571A>G
c.4737A>G (p.Lys1579=)
c.7616A>G
c.10671A>G (p.Lys3557=)
c.825A>G (p.Lys275=)
c.2027A>G
c.59A>G
c.1768A>G
c.4162A>G (n.4162A>G)
c.10545A>G (p.Lys3515=)
n.4474A>G
c.10674A>G (p.Lys3558=)
2g.73572548A>TCA347284659ALMS1c.10290A>T (p.Lys3430Asn)
c.3376A>T
c.7571A>T
c.4737A>T (p.Lys1579Asn)
c.7616A>T
c.10671A>T (p.Lys3557Asn)
c.825A>T (p.Lys275Asn)
c.2027A>T
c.59A>T
c.1768A>T
c.4162A>T (n.4162A>T)
c.10545A>T (p.Lys3515Asn)
n.4474A>T
c.10674A>T (p.Lys3558Asn)
2g.73572549G>ACA347284662ALMS1c.10291G>A (p.Glu3431Lys)
c.3377G>A
c.7572G>A
c.4738G>A (p.Glu1580Lys)
c.7617G>A
c.10672G>A (p.Glu3558Lys)
c.826G>A (p.Glu276Lys)
c.2028G>A
c.60G>A
c.1769G>A
c.4163G>A (n.4163G>A)
c.10546G>A (p.Glu3516Lys)
n.4475G>A
c.10675G>A (p.Glu3559Lys)
 gnomAD v4
2g.73572549G>CCA347284666ALMS1c.10291G>C (p.Glu3431Gln)
c.3377G>C
c.7572G>C
c.4738G>C (p.Glu1580Gln)
c.7617G>C
c.10672G>C (p.Glu3558Gln)
c.826G>C (p.Glu276Gln)
c.2028G>C
c.60G>C
c.1769G>C
c.4163G>C (n.4163G>C)
c.10546G>C (p.Glu3516Gln)
n.4475G>C
c.10675G>C (p.Glu3559Gln)
2g.73572549G>TCA347284669ALMS1c.10291G>T (p.Glu3431Ter)
c.3377G>T
c.7572G>T
c.4738G>T (p.Glu1580Ter)
c.7617G>T
c.10672G>T (p.Glu3558Ter)
c.826G>T (p.Glu276Ter)
c.2028G>T
c.60G>T
c.1769G>T
c.4163G>T (n.4163G>T)
c.10546G>T (p.Glu3516Ter)
n.4475G>T
c.10675G>T (p.Glu3559Ter)
2g.73572550A>CCA347284675ALMS1c.10292A>C (p.Glu3431Ala)
c.3378A>C
c.7573A>C
c.4739A>C (p.Glu1580Ala)
c.7618A>C
c.10673A>C (p.Glu3558Ala)
c.827A>C (p.Glu276Ala)
c.2029A>C
c.61A>C
c.1770A>C
c.4164A>C (n.4164A>C)
c.10547A>C (p.Glu3516Ala)
n.4476A>C
c.10676A>C (p.Glu3559Ala)
2g.73572550A>GCA347284678ALMS1c.10292A>G (p.Glu3431Gly)
c.3378A>G
c.7573A>G
c.4739A>G (p.Glu1580Gly)
c.7618A>G
c.10673A>G (p.Glu3558Gly)
c.827A>G (p.Glu276Gly)
c.2029A>G
c.61A>G
c.1770A>G
c.4164A>G (n.4164A>G)
c.10547A>G (p.Glu3516Gly)
n.4476A>G
c.10676A>G (p.Glu3559Gly)
2g.73572550A>TCA347284682ALMS1c.10292A>T (p.Glu3431Val)
c.3378A>T
c.7573A>T
c.4739A>T (p.Glu1580Val)
c.7618A>T
c.10673A>T (p.Glu3558Val)
c.827A>T (p.Glu276Val)
c.2029A>T
c.61A>T
c.1770A>T
c.4164A>T (n.4164A>T)
c.10547A>T (p.Glu3516Val)
n.4476A>T
c.10676A>T (p.Glu3559Val)
2g.73572551A>CCA347284685ALMS1c.10293A>C (p.Glu3431Asp)
c.3379A>C
c.7574A>C
c.4740A>C (p.Glu1580Asp)
c.7619A>C
c.10674A>C (p.Glu3558Asp)
c.828A>C (p.Glu276Asp)
c.2030A>C
c.62A>C
c.1771A>C
c.4165A>C (n.4165A>C)
c.10548A>C (p.Glu3516Asp)
n.4477A>C
c.10677A>C (p.Glu3559Asp)
2g.73572551A>GCA427024149ALMS1c.10293A>G (p.Glu3431=)
c.3379A>G
c.7574A>G
c.4740A>G (p.Glu1580=)
c.7619A>G
c.10674A>G (p.Glu3558=)
c.828A>G (p.Glu276=)
c.2030A>G
c.62A>G
c.1771A>G
c.4165A>G (n.4165A>G)
c.10548A>G (p.Glu3516=)
n.4477A>G
c.10677A>G (p.Glu3559=)
2g.73572551A>TCA347284690ALMS1c.10293A>T (p.Glu3431Asp)
c.3379A>T
c.7574A>T
c.4740A>T (p.Glu1580Asp)
c.7619A>T
c.10674A>T (p.Glu3558Asp)
c.828A>T (p.Glu276Asp)
c.2030A>T
c.62A>T
c.1771A>T
c.4165A>T (n.4165A>T)
c.10548A>T (p.Glu3516Asp)
n.4477A>T
c.10677A>T (p.Glu3559Asp)

Number of alleles fetched