Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.73572456_73572482del | CA2554183417 | ALMS1 | c.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) | |
2 | g.73572452_73572454delinsCAT | CA1261021209 | ALMS1 | c.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=) | |
2 | g.73572453_73572454del | CA1715029 | ALMS1 | c.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 |
2 | g.73572454T>A | CA347283855 | ALMS1 | c.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) | |
2 | g.73572454T>C | CA347283849 | ALMS1 | c.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) | |
2 | g.73572454T>G | CA347283852 | ALMS1 | c.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 |
2 | g.73572454T= | CA1261021215 | ALMS1 | c.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=) | |
2 | g.73572455del | CA2499216269 | ALMS1 | c.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 |
2 | g.73572455G>A | CA1715030 | ALMS1 | c.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 |
2 | g.73572455G>C | CA347283861 | ALMS1 | c.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 |
2 | g.73572455G= | CA1261021217 | ALMS1 | c.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=) | |
2 | g.73572455G>T | CA347283865 | ALMS1 | c.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) | |
2 | g.73572456T>A | CA347283868 | ALMS1 | c.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) | |
2 | g.73572456T>C | CA347283872 | ALMS1 | c.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) | |
2 | g.73572456T>G | CA347283882 | ALMS1 | c.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) | |
2 | g.73572457G>A | CA347283887 | ALMS1 | c.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) | |
2 | g.73572457G>C | CA347283893 | ALMS1 | c.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) | |
2 | g.73572457G>T | CA347283896 | ALMS1 | c.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) | |
2 | g.73572458T>A | CA347283899 | ALMS1 | c.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) | |
2 | g.73572458T>C | CA427024756 | ALMS1 | c.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=) | |
2 | g.73572458T>G | CA347283901 | ALMS1 | c.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) | |
2 | g.73572459C>A | CA347283916 | ALMS1 | c.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) | |
2 | g.73572459C>G | CA347283913 | ALMS1 | c.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) | |
2 | g.73572459C>T | CA347283910 | ALMS1 | c.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 |
2 | g.73572459dup | CA2659617082 | ALMS1 | c.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 |
2 | g.73572460T>A | CA347283919 | ALMS1 | c.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) | |
2 | g.73572460T>C | CA347283923 | ALMS1 | c.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) | |
2 | g.73572460T>G | CA347283926 | ALMS1 | c.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) | |
2 | g.73572461T>A | CA427024763 | ALMS1 | c.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=) | |
2 | g.73572461T>C | CA427024765 | ALMS1 | c.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=) | |
2 | g.73572461T>G | CA427024766 | ALMS1 | c.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=) | |
2 | g.73572462C>A | CA347283931 | ALMS1 | c.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) | |
2 | g.73572462C>G | CA347283933 | ALMS1 | c.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) | |
2 | g.73572462C>T | CA347283936 | ALMS1 | c.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) | |
2 | g.73572463C>A | CA347283939 | ALMS1 | c.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) | |
2 | g.73572463C= | CA1261021219 | ALMS1 | c.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=) | |
2 | g.73572463C>G | CA1715031 | ALMS1 | c.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 |
2 | g.73572463C>T | CA347283944 | ALMS1 | c.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 |
2 | g.73572464T>A | CA427024772 | ALMS1 | c.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=) | |
2 | g.73572464T>C | CA427024776 | ALMS1 | c.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 |
2 | g.73572464T>G | CA427024779 | ALMS1 | c.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=) | |
2 | g.73572464T= | CA1261021220 | ALMS1 | c.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=) | |
2 | g.73572465C>A | CA347283948 | ALMS1 | c.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) | |
2 | g.73572465C= | CA1261021221 | ALMS1 | c.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=) | |
2 | g.73572465C>G | CA347283951 | ALMS1 | c.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 |
2 | g.73572465C>T | CA1715032 | ALMS1 | c.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 |
2 | g.73572468_73572471del | CA2739271094 | ALMS1 | c.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 |
2 | g.73572466T>A | CA347283963 | ALMS1 | c.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) | |
2 | g.73572466T>C | CA347283960 | ALMS1 | c.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) | |
2 | g.73572466T>G | CA347283956 | ALMS1 | c.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) | |
2 | g.73572467T>A | CA427024787 | ALMS1 | c.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=) | |
2 | g.73572467T>C | CA1715033 | ALMS1 | c.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 |
2 | g.73572467T>G | CA427024788 | ALMS1 | c.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 |
2 | g.73572467T= | CA1261021224 | ALMS1 | c.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=) | |
2 | g.73572468C>A | CA347283972 | ALMS1 | c.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) | |
2 | g.73572468C= | CA1261021228 | ALMS1 | c.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=) | |
2 | g.73572468C>G | CA347283975 | ALMS1 | c.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) | |
2 | g.73572468C>T | CA347283978 | ALMS1 | c.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 |
2 | g.73572469C>A | CA347283982 | ALMS1 | c.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) | |
2 | g.73572469C>G | CA347283983 | ALMS1 | c.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 |
2 | g.73572469C>T | CA347283988 | ALMS1 | c.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) | |
2 | g.73572470T>A | CA427024796 | ALMS1 | c.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=) | |
2 | g.73572470T>C | CA427024799 | ALMS1 | c.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=) | |
2 | g.73572470T>G | CA427024801 | ALMS1 | c.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=) | |
2 | g.73572471T>A | CA347283989 | ALMS1 | c.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 |
2 | g.73572471T>C | CA347283990 | ALMS1 | c.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) | |
2 | g.73572471T>G | CA347283992 | ALMS1 | c.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) | |
2 | g.73572471T= | CA1261021229 | ALMS1 | c.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=) | |
2 | g.73572472A>C | CA347283995 | ALMS1 | c.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) | |
2 | g.73572472A>G | CA347283998 | ALMS1 | c.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 |
2 | g.73572472A>T | CA347284001 | ALMS1 | c.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) | |
2 | g.73572473T>A | CA347284011 | ALMS1 | c.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 |
2 | g.73572473T>C | CA427024807 | ALMS1 | c.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=) | |
2 | g.73572473T>G | CA347284007 | ALMS1 | c.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) | |
2 | g.73572474C>A | CA347284015 | ALMS1 | c.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) | |
2 | g.73572474C>G | CA347284018 | ALMS1 | c.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) | |
2 | g.73572474C>T | CA347284017 | ALMS1 | c.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) | |
2 | g.73572475A= | CA1261021230 | ALMS1 | c.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=) | |
2 | g.73572475A>C | CA347284025 | ALMS1 | c.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) | |
2 | g.73572475A>G | CA347284032 | ALMS1 | c.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 |
2 | g.73572475A>T | CA347284028 | ALMS1 | c.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) | |
2 | g.73572476A>C | CA347284039 | ALMS1 | c.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) | |
2 | g.73572476A>G | CA427024817 | ALMS1 | c.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=) | |
2 | g.73572476A>T | CA347284041 | ALMS1 | c.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) | |
2 | g.73572481_73572546del | CA2659617091 | ALMS1 | c.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 |
2 | g.73572477A>C | CA347284042 | ALMS1 | c.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) | |
2 | g.73572477A>G | CA347284044 | ALMS1 | c.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) | |
2 | g.73572477A>T | CA347284045 | ALMS1 | c.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) | |
2 | g.73572478A>C | CA347284048 | ALMS1 | c.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) | |
2 | g.73572478A>G | CA347284052 | ALMS1 | c.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) | |
2 | g.73572478A>T | CA347284055 | ALMS1 | c.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) | |
2 | g.73572479C>A | CA347284059 | ALMS1 | c.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) | |
2 | g.73572479C>G | CA347284062 | ALMS1 | c.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 |
2 | g.73572479C>T | CA427024822 | ALMS1 | c.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 |
2 | g.73572480A= | CA1261021231 | ALMS1 | c.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=) | |
2 | g.73572480A>C | CA347284074 | ALMS1 | c.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) | |
2 | g.73572480A>G | CA347284071 | ALMS1 | c.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 |
2 | g.73572480A>T | CA1715034 | ALMS1 | c.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 |
2 | g.73572481T>A | CA347284085 | ALMS1 | c.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) | |
2 | g.73572481T>C | CA347284087 | ALMS1 | c.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 |
2 | g.73572481T>G | CA347284089 | ALMS1 | c.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) | |
2 | g.73572482G>A | CA347284093 | ALMS1 | c.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 |
2 | g.73572482G>C | CA347284096 | ALMS1 | c.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) | |
2 | g.73572482G>T | CA347284099 | ALMS1 | c.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) | |
2 | g.73572483del | CA2659617096 | ALMS1 | c.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 |
2 | g.73572483G>A | CA347284102 | ALMS1 | c.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 |
2 | g.73572483G>C | CA347284103 | ALMS1 | c.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) | |
2 | g.73572483G= | CA1261021232 | ALMS1 | c.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=) | |
2 | g.73572483G>T | CA347284107 | ALMS1 | c.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 |
2 | g.73572483_73572484delinsT | CA2586964941 | ALMS1 | c.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) | |
2 | g.73572483_73572488delinsTCAAA | CA2586964942 | ALMS1 | c.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) | |
2 | g.73572484A>C | CA347284108 | ALMS1 | c.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) | |
2 | g.73572484A>G | CA347284109 | ALMS1 | c.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 |
2 | g.73572484A>T | CA347284110 | ALMS1 | c.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 |
2 | g.73572485C>A | CA347284113 | ALMS1 | c.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 |
2 | g.73572485C= | CA1261021233 | ALMS1 | c.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=) | |
2 | g.73572485C>G | CA50386294 | ALMS1 | c.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 |
2 | g.73572485C>T | CA1715035 | ALMS1 | c.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 |
2 | g.73572486A>C | CA347284120 | ALMS1 | c.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) | |
2 | g.73572486A>G | CA347284123 | ALMS1 | c.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) | |
2 | g.73572486A>T | CA347284128 | ALMS1 | c.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) | |
2 | g.73572487A>C | CA347284133 | ALMS1 | c.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) | |
2 | g.73572487A>G | CA347284136 | ALMS1 | c.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) | |
2 | g.73572487A>T | CA347284139 | ALMS1 | c.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) | |
2 | g.73572488G>A | CA427023997 | ALMS1 | c.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 |
2 | g.73572488G>C | CA347284148 | ALMS1 | c.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) | |
2 | g.73572488G= | CA1261021234 | ALMS1 | c.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=) | |
2 | g.73572488G>T | CA347284145 | ALMS1 | c.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) | |
2 | g.73572489A= | CA1261021235 | ALMS1 | c.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=) | |
2 | g.73572489A>C | CA347284153 | ALMS1 | c.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 |
2 | g.73572489A>G | CA347284156 | ALMS1 | c.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 |
2 | g.73572489A>T | CA347284159 | ALMS1 | c.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) | |
2 | g.73572490C>A | CA347284164 | ALMS1 | c.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) | |
2 | g.73572490C>G | CA347284166 | ALMS1 | c.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) | |
2 | g.73572490C>T | CA347284175 | ALMS1 | c.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 |
2 | g.73572491T>A | CA427024003 | ALMS1 | c.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=) | |
2 | g.73572491T>C | CA427024005 | ALMS1 | c.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=) | |
2 | g.73572491T>G | CA427024008 | ALMS1 | c.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=) | |
2 | g.73572492A>C | CA347284179 | ALMS1 | c.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) | |
2 | g.73572492A>G | CA347284186 | ALMS1 | c.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) | |
2 | g.73572492A>T | CA347284181 | ALMS1 | c.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) | |
2 | g.73572493A= | CA1261021236 | ALMS1 | c.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=) | |
2 | g.73572493A>C | CA347284189 | ALMS1 | c.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 |
2 | g.73572493A>G | CA347284194 | ALMS1 | c.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 |
2 | g.73572493A>T | CA347284198 | ALMS1 | c.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) | |
2 | g.73572496_73572499del | CA2499216271 | ALMS1 | c.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 |
2 | g.73572494G>A | CA427024015 | ALMS1 | c.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=) | |
2 | g.73572494G>C | CA347284201 | ALMS1 | c.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) | |
2 | g.73572494G>T | CA347284207 | ALMS1 | c.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) | |
2 | g.73572495A>C | CA347284211 | ALMS1 | c.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) | |
2 | g.73572495A>G | CA347284213 | ALMS1 | c.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 |
2 | g.73572495A>T | CA347284217 | ALMS1 | c.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) | |
2 | g.73572495_73572496insACC | CA2750467769 | ALMS1 | c.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) | |
2 | g.73572496C>A | CA347284220 | ALMS1 | c.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) | |
2 | g.73572496C>G | CA347284221 | ALMS1 | c.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) | |
2 | g.73572496C>T | CA347284223 | ALMS1 | c.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) | |
2 | g.73572497A>C | CA427024029 | ALMS1 | c.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=) | |
2 | g.73572497A>G | CA427024026 | ALMS1 | c.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 |
2 | g.73572497A>T | CA427024027 | ALMS1 | c.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=) | |
2 | g.73572498G>A | CA347284235 | ALMS1 | c.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 |
2 | g.73572498G>C | CA347284232 | ALMS1 | c.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) | |
2 | g.73572498G= | CA1261021237 | ALMS1 | c.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=) | |
2 | g.73572498G>T | CA347284229 | ALMS1 | c.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) | |
2 | g.73572499A= | CA1261021238 | ALMS1 | c.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=) | |
2 | g.73572499A>C | CA347284239 | ALMS1 | c.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) | |
2 | g.73572499A>G | CA347284244 | ALMS1 | c.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) | |
2 | g.73572499A>T | CA347284243 | ALMS1 | c.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) | |
2 | g.73572499_73572500insACGGG | CA534123606 | ALMS1 | c.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 |
2 | g.73572499_73572500insACGGGTAGTAT | CA2533181878 | ALMS1 | c.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) | |
2 | g.73572499_73572500insACGGGTAGTATT | CA1261021239 | ALMS1 | c.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 |
2 | g.73572500T>A | CA347284249 | ALMS1 | c.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) | |
2 | g.73572500T>C | CA427024033 | ALMS1 | c.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=) | |
2 | g.73572500T>G | CA347284253 | ALMS1 | c.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) | |
2 | g.73572501T>A | CA347284258 | ALMS1 | c.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) | |
2 | g.73572501T>C | CA347284261 | ALMS1 | c.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) | |
2 | g.73572501T>G | CA347284264 | ALMS1 | c.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 |
2 | g.73572502A= | CA1261021240 | ALMS1 | c.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=) | |
2 | g.73572502A>C | CA347284268 | ALMS1 | c.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) | |
2 | g.73572502A>G | CA1715036 | ALMS1 | c.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 |
2 | g.73572502A>T | CA347284273 | ALMS1 | c.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 |
2 | g.73572503T>A | CA347284278 | ALMS1 | c.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) | |
2 | g.73572503T>C | CA427024040 | ALMS1 | c.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=) | |
2 | g.73572503T>G | CA347284281 | ALMS1 | c.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) | |
2 | g.73572504A>C | CA347284285 | ALMS1 | c.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) | |
2 | g.73572504A>G | CA347284287 | ALMS1 | c.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 |
2 | g.73572504A>T | CA347284290 | ALMS1 | c.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) | |
2 | g.73572505C>A | CA347284293 | ALMS1 | c.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) | |
2 | g.73572505C= | CA1261021241 | ALMS1 | c.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=) | |
2 | g.73572505C>G | CA349169 | ALMS1 | c.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 |
2 | g.73572505C>T | CA347284297 | ALMS1 | c.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) | |
2 | g.73572506C>A | CA427024046 | ALMS1 | c.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=) | |
2 | g.73572506C= | CA1261021242 | ALMS1 | c.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=) | |
2 | g.73572506C>G | CA427024047 | ALMS1 | c.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 |
2 | g.73572506C>T | CA427024048 | ALMS1 | c.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 |
2 | g.73572507A= | CA1261021243 | ALMS1 | c.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=) | |
2 | g.73572507A>C | CA427024051 | ALMS1 | c.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=) | |
2 | g.73572507A>G | CA1715037 | ALMS1 | c.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 |
2 | g.73572507A>T | CA347284304 | ALMS1 | c.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) | |
2 | g.73572508G>A | CA347284309 | ALMS1 | c.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) | |
2 | g.73572508G>C | CA347284311 | ALMS1 | c.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) | |
2 | g.73572508G>T | CA347284322 | ALMS1 | c.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) | |
2 | g.73572509A>C | CA347284324 | ALMS1 | c.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) | |
2 | g.73572509A>G | CA427024056 | ALMS1 | c.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 |
2 | g.73572509A>T | CA347284326 | ALMS1 | c.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) | |
2 | g.73572510A>C | CA347284329 | ALMS1 | c.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) | |
2 | g.73572510A>G | CA347284332 | ALMS1 | c.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) | |
2 | g.73572510A>T | CA347284336 | ALMS1 | c.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) | |
2 | g.73572511T>A | CA347284358 | ALMS1 | c.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) | |
2 | g.73572511T>C | CA347284354 | ALMS1 | c.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) | |
2 | g.73572511T>G | CA347284340 | ALMS1 | c.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) | |
2 | g.73572512A= | CA1261021244 | ALMS1 | c.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=) | |
2 | g.73572512A>C | CA427024059 | ALMS1 | c.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=) | |
2 | g.73572512A>G | CA1715038 | ALMS1 | c.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 |
2 | g.73572512A>T | CA427024062 | ALMS1 | c.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=) | |
2 | g.73572513A= | CA1261021245 | ALMS1 | c.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=) | |
2 | g.73572513A>C | CA347284365 | ALMS1 | c.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) | |
2 | g.73572513A>G | CA347284368 | ALMS1 | c.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 |
2 | g.73572513A>T | CA347284370 | ALMS1 | c.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) | |
2 | g.73572514A>C | CA347284375 | ALMS1 | c.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) | |
2 | g.73572514A>G | CA347284379 | ALMS1 | c.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) | |
2 | g.73572514A>T | CA347284382 | ALMS1 | c.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) | |
2 | g.73572515G>A | CA427024068 | ALMS1 | c.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 |
2 | g.73572515G>C | CA347284389 | ALMS1 | c.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 |
2 | g.73572515G>T | CA347284393 | ALMS1 | c.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) | |
2 | g.73572516A= | CA1261021246 | ALMS1 | c.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=) | |
2 | g.73572516A>C | CA347284398 | ALMS1 | c.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) | |
2 | g.73572516A>G | CA347284401 | ALMS1 | c.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 |
2 | g.73572516A>T | CA347284404 | ALMS1 | c.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) | |
2 | g.73572517G>A | CA347284413 | ALMS1 | c.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) | |
2 | g.73572517G>C | CA347284416 | ALMS1 | c.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) | |
2 | g.73572517G>T | CA347284410 | ALMS1 | c.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) | |
2 | g.73572518C>A | CA347284418 | ALMS1 | c.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) | |
2 | g.73572518C= | CA1261021247 | ALMS1 | c.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=) | |
2 | g.73572518C>G | CA347284419 | ALMS1 | c.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 |
2 | g.73572518C>T | CA50386318 | ALMS1 | c.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 |
2 | g.73572519C>A | CA347284425 | ALMS1 | c.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) | |
2 | g.73572519C= | CA1261021248 | ALMS1 | c.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=) | |
2 | g.73572519C>G | CA347284428 | ALMS1 | c.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) | |
2 | g.73572519C>T | CA50386332 | ALMS1 | c.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 |
2 | g.73572520T>A | CA347284441 | ALMS1 | c.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 |
2 | g.73572520T>C | CA347284435 | ALMS1 | c.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) | |
2 | g.73572520T>G | CA347284439 | ALMS1 | c.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) | |
2 | g.73572520T= | CA1261021249 | ALMS1 | c.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=) | |
2 | g.73572521C>A | CA427024074 | ALMS1 | c.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=) | |
2 | g.73572521C= | CA1261021250 | ALMS1 | c.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=) | |
2 | g.73572521C>G | CA427024075 | ALMS1 | c.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 |
2 | g.73572521C>T | CA427024076 | ALMS1 | c.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=) | |
2 | g.73572522A>C | CA347284444 | ALMS1 | c.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) | |
2 | g.73572522A>G | CA347284446 | ALMS1 | c.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) | |
2 | g.73572522A>T | CA347284448 | ALMS1 | c.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) | |
2 | g.73572523G>A | CA347284451 | ALMS1 | c.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) | |
2 | g.73572523G>C | CA347284453 | ALMS1 | c.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) | |
2 | g.73572523G>T | CA347284456 | ALMS1 | c.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) | |
2 | g.73572524C>A | CA347284461 | ALMS1 | c.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) | |
2 | g.73572524C= | CA1261021252 | ALMS1 | c.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=) | |
2 | g.73572524C>G | CA347284463 | ALMS1 | c.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) | |
2 | g.73572524C>T | CA50386340 | ALMS1 | c.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 |
2 | g.73572525A= | CA1261021254 | ALMS1 | c.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=) | |
2 | g.73572525A>C | CA1715039 | ALMS1 | c.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 |
2 | g.73572525A>G | CA347284474 | ALMS1 | c.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 |
2 | g.73572525A>T | CA347284470 | ALMS1 | c.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) | |
2 | g.73572526T>A | CA347284481 | ALMS1 | c.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) | |
2 | g.73572526T>C | CA347284490 | ALMS1 | c.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) | |
2 | g.73572526T>G | CA347284486 | ALMS1 | c.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) | |
2 | g.73572527C>A | CA427024089 | ALMS1 | c.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 |
2 | g.73572527C= | CA1261021255 | ALMS1 | c.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=) | |
2 | g.73572527C>G | CA347284494 | ALMS1 | c.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) | |
2 | g.73572527C>T | CA427024090 | ALMS1 | c.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 |
2 | g.73572528A= | CA1261021256 | ALMS1 | c.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=) | |
2 | g.73572528A>C | CA347284505 | ALMS1 | c.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) | |
2 | g.73572528A>G | CA1715040 | ALMS1 | c.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 |
2 | g.73572528A>T | CA347284503 | ALMS1 | c.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) | |
2 | g.73572529dup | CA1261021257 | ALMS1 | c.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 |
2 | g.73572529A= | CA1261021258 | ALMS1 | c.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=) | |
2 | g.73572529A>C | CA347284511 | ALMS1 | c.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) | |
2 | g.73572529A>G | CA50386346 | ALMS1 | c.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 |
2 | g.73572529A>T | CA347284516 | ALMS1 | c.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 |
2 | g.73572530T>A | CA347284519 | ALMS1 | c.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) | |
2 | g.73572530T>C | CA427024096 | ALMS1 | c.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=) | |
2 | g.73572530T>G | CA347284521 | ALMS1 | c.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) | |
2 | g.73572530_73572531insACA | CA2750467773 | ALMS1 | c.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) | |
2 | g.73572531G>A | CA347284525 | ALMS1 | c.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 |
2 | g.73572531G>C | CA347284529 | ALMS1 | c.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) | |
2 | g.73572531G>T | CA347284530 | ALMS1 | c.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 |
2 | g.73572532T>A | CA347284534 | ALMS1 | c.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) | |
2 | g.73572532T>C | CA347284535 | ALMS1 | c.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) | |
2 | g.73572532T>G | CA347284537 | ALMS1 | c.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) | |
2 | g.73572533G>A | CA427024102 | ALMS1 | c.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 |
2 | g.73572533G>C | CA427024103 | ALMS1 | c.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=) | |
2 | g.73572533G>T | CA427024105 | ALMS1 | c.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 |
2 | g.73572534A>C | CA347284541 | ALMS1 | c.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) | |
2 | g.73572534A>G | CA347284547 | ALMS1 | c.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) | |
2 | g.73572534A>T | CA347284543 | ALMS1 | c.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) | |
2 | g.73572535A>C | CA347284553 | ALMS1 | c.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) | |
2 | g.73572535A>G | CA347284556 | ALMS1 | c.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) | |
2 | g.73572535A>T | CA347284558 | ALMS1 | c.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) | |
2 | g.73572536T>A | CA347284562 | ALMS1 | c.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) | |
2 | g.73572536T>C | CA427024113 | ALMS1 | c.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=) | |
2 | g.73572536T>G | CA347284566 | ALMS1 | c.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) | |
2 | g.73572537T>A | CA347284570 | ALMS1 | c.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) | |
2 | g.73572537T>C | CA427024114 | ALMS1 | c.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 |
2 | g.73572537T>G | CA347284572 | ALMS1 | c.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) | |
2 | g.73572538T>A | CA347284577 | ALMS1 | c.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) | |
2 | g.73572538T>C | CA347284579 | ALMS1 | c.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) | |
2 | g.73572538T>G | CA347284581 | ALMS1 | c.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) | |
2 | g.73572539G>A | CA427024121 | ALMS1 | c.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 |
2 | g.73572539G>C | CA347284587 | ALMS1 | c.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) | |
2 | g.73572539G= | CA1261021259 | ALMS1 | c.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=) | |
2 | g.73572539G>T | CA347284583 | ALMS1 | c.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) | |
2 | g.73572541del | CA501086 | ALMS1 | c.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) | |
2 | g.73572540G>A | CA347284589 | ALMS1 | c.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) | |
2 | g.73572540G>C | CA347284591 | ALMS1 | c.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) | |
2 | g.73572540G>T | CA347284593 | ALMS1 | c.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) | |
2 | g.73572541G>A | CA347284596 | ALMS1 | c.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) | |
2 | g.73572541G>C | CA347284598 | ALMS1 | c.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) | |
2 | g.73572541G>T | CA347284600 | ALMS1 | c.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) | |
2 | g.73572542A= | CA1261021260 | ALMS1 | c.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=) | |
2 | g.73572542A>C | CA427024128 | ALMS1 | c.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 |
2 | g.73572542A>G | CA427024130 | ALMS1 | c.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=) | |
2 | g.73572542A>T | CA427024131 | ALMS1 | c.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=) | |
2 | g.73572543_73572544del | CA2577005217 | ALMS1 | c.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) | |
2 | g.73572543A>C | CA347284607 | ALMS1 | c.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) | |
2 | g.73572543A>G | CA347284604 | ALMS1 | c.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 |
2 | g.73572543A>T | CA347284605 | ALMS1 | c.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) | |
2 | g.73572544A>C | CA347284610 | ALMS1 | c.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) | |
2 | g.73572544A>G | CA347284611 | ALMS1 | c.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) | |
2 | g.73572544A>T | CA347284614 | ALMS1 | c.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) | |
2 | g.73572545del | CA2573135804 | ALMS1 | c.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 |
2 | g.73572545C>A | CA347284617 | ALMS1 | c.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) | |
2 | g.73572545C>G | CA347284620 | ALMS1 | c.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 |
2 | g.73572545C>T | CA427024135 | ALMS1 | c.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=) | |
2 | g.73572545_73572548delinsCAAA | CA1261021261 | ALMS1 | c.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=) | |
2 | g.73572545_73572549delinsCAAAG | CA1261021262 | ALMS1 | c.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=) | |
2 | g.73572546A>C | CA347284625 | ALMS1 | c.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) | |
2 | g.73572546A>G | CA347284636 | ALMS1 | c.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) | |
2 | g.73572546A>T | CA347284632 | ALMS1 | c.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) | |
2 | g.73572546_73572548del | CA1715041 | ALMS1 | c.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 |
2 | g.73572548_73572551del | CA892825931 | ALMS1 | c.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 |
2 | g.73572547A>C | CA347284643 | ALMS1 | c.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) | |
2 | g.73572547A>G | CA347284647 | ALMS1 | c.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 |
2 | g.73572547A>T | CA347284651 | ALMS1 | c.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) | |
2 | g.73572548A= | CA1261021265 | ALMS1 | c.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=) | |
2 | g.73572548A>C | CA347284655 | ALMS1 | c.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 |
2 | g.73572548A>G | CA427024142 | ALMS1 | c.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=) | |
2 | g.73572548A>T | CA347284659 | ALMS1 | c.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) | |
2 | g.73572549G>A | CA347284662 | ALMS1 | c.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 |
2 | g.73572549G>C | CA347284666 | ALMS1 | c.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) | |
2 | g.73572549G>T | CA347284669 | ALMS1 | c.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) | |
2 | g.73572550A>C | CA347284675 | ALMS1 | c.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) | |
2 | g.73572550A>G | CA347284678 | ALMS1 | c.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) | |
2 | g.73572550A>T | CA347284682 | ALMS1 | c.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) | |
2 | g.73572551A>C | CA347284685 | ALMS1 | c.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) | |
2 | g.73572551A>G | CA427024149 | ALMS1 | c.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=) | |
2 | g.73572551A>T | CA347284690 | ALMS1 | c.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) | |
2 | g.73572552G>A | CA347284695 | ALMS1 | c.10294G>A (p.Val3432Met) c.3380G>A c.7575G>A c.4741G>A (p.Val1581Met) c.7620G>A c.10675G>A (p.Val3559Met) c.829G>A (p.Val277Met) c.2031G>A c.63G>A c.1772G>A c.4166G>A (n.4166G>A) c.10549G>A (p.Val3517Met) n.4478G>A c.10678G>A (p.Val3560Met) | gnomAD v4 |
2 | g.73572552G>C | CA347284696 | ALMS1 | c.10294G>C (p.Val3432Leu) c.3380G>C c.7575G>C c.4741G>C (p.Val1581Leu) c.7620G>C c.10675G>C (p.Val3559Leu) c.829G>C (p.Val277Leu) c.2031G>C c.63G>C c.1772G>C c.4166G>C (n.4166G>C) c.10549G>C (p.Val3517Leu) n.4478G>C c.10678G>C (p.Val3560Leu) | |
2 | g.73572552G>T | CA347284698 | ALMS1 | c.10294G>T (p.Val3432Leu) c.3380G>T c.7575G>T c.4741G>T (p.Val1581Leu) c.7620G>T c.10675G>T (p.Val3559Leu) c.829G>T (p.Val277Leu) c.2031G>T c.63G>T c.1772G>T c.4166G>T (n.4166G>T) c.10549G>T (p.Val3517Leu) n.4478G>T c.10678G>T (p.Val3560Leu) | |
2 | g.73572552_73572553delinsGT | CA1261021266 | ALMS1 | c.10294_10295delinsGT (p.Val3432=) c.3380_3381delinsGT c.7575_7576delinsGT c.4741_4742delinsGT (p.Val1581=) c.7620_7621delinsGT c.10675_10676delinsGT (p.Val3559=) c.829_830delinsGT (p.Val277=) c.2031_2032delinsGT c.63_64delinsGT c.1772_1773delinsGT c.4166_4167delinsGT (n.4166_4167delinsGT) c.10549_10550delinsGT (p.Val3517=) n.4478_4479delinsGT c.10678_10679delinsGT (p.Val3560=) | |
2 | g.73572553del | CA915944043 | ALMS1 | c.10295del (p.Val3432GlyfsTer?) c.3381del c.7576del c.4742del (p.Val1581GlyfsTer?) c.7621del c.10676del (p.Val3559GlyfsTer?) c.830del (p.Val277GlyfsTer?) c.2032del c.64del c.1773del c.4167del (n.4167del) c.10550del (p.Val3517GlyfsTer?) n.4479del c.10679del (p.Val3560GlyfsTer?) | ClinVar dbSNP |
2 | g.73572553T>A | CA347284712 | ALMS1 | c.10295T>A (p.Val3432Glu) c.3381T>A c.7576T>A c.4742T>A (p.Val1581Glu) c.7621T>A c.10676T>A (p.Val3559Glu) c.830T>A (p.Val277Glu) c.2032T>A c.64T>A c.1773T>A c.4167T>A (n.4167T>A) c.10550T>A (p.Val3517Glu) n.4479T>A c.10679T>A (p.Val3560Glu) | |
2 | g.73572553T>C | CA1715042 | ALMS1 | c.10295T>C (p.Val3432Ala) c.3381T>C c.7576T>C c.4742T>C (p.Val1581Ala) c.7621T>C c.10676T>C (p.Val3559Ala) c.830T>C (p.Val277Ala) c.2032T>C c.64T>C c.1773T>C c.4167T>C (n.4167T>C) c.10550T>C (p.Val3517Ala) n.4479T>C c.10679T>C (p.Val3560Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572553T>G | CA347284715 | ALMS1 | c.10295T>G (p.Val3432Gly) c.3381T>G c.7576T>G c.4742T>G (p.Val1581Gly) c.7621T>G c.10676T>G (p.Val3559Gly) c.830T>G (p.Val277Gly) c.2032T>G c.64T>G c.1773T>G c.4167T>G (n.4167T>G) c.10550T>G (p.Val3517Gly) n.4479T>G c.10679T>G (p.Val3560Gly) | |
2 | g.73572553T= | CA1261021267 | ALMS1 | c.10295T= (p.Val3432=) c.3381T= c.7576T= c.4742T= (p.Val1581=) c.7621T= c.10676T= (p.Val3559=) c.830T= (p.Val277=) c.2032T= c.64T= c.1773T= c.4167T= (n.4167T=) c.10550T= (p.Val3517=) n.4479T= c.10679T= (p.Val3560=) | |
2 | g.73572554G>A | CA1715043 | ALMS1 | c.10296G>A (p.Val3432=) c.3382G>A c.7577G>A c.4743G>A (p.Val1581=) c.7622G>A c.10677G>A (p.Val3559=) c.831G>A (p.Val277=) c.2033G>A c.65G>A c.1774G>A c.4168G>A (n.4168G>A) c.10551G>A (p.Val3517=) n.4480G>A c.10680G>A (p.Val3560=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572554G>C | CA427024153 | ALMS1 | c.10296G>C (p.Val3432=) c.3382G>C c.7577G>C c.4743G>C (p.Val1581=) c.7622G>C c.10677G>C (p.Val3559=) c.831G>C (p.Val277=) c.2033G>C c.65G>C c.1774G>C c.4168G>C (n.4168G>C) c.10551G>C (p.Val3517=) n.4480G>C c.10680G>C (p.Val3560=) | |
2 | g.73572554G= | CA1261021269 | ALMS1 | c.10296G= (p.Val3432=) c.3382G= c.7577G= c.4743G= (p.Val1581=) c.7622G= c.10677G= (p.Val3559=) c.831G= (p.Val277=) c.2033G= c.65G= c.1774G= c.4168G= (n.4168G=) c.10551G= (p.Val3517=) n.4480G= c.10680G= (p.Val3560=) | |
2 | g.73572554G>T | CA427024154 | ALMS1 | c.10296G>T (p.Val3432=) c.3382G>T c.7577G>T c.4743G>T (p.Val1581=) c.7622G>T c.10677G>T (p.Val3559=) c.831G>T (p.Val277=) c.2033G>T c.65G>T c.1774G>T c.4168G>T (n.4168G>T) c.10551G>T (p.Val3517=) n.4480G>T c.10680G>T (p.Val3560=) |