Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.73572344C>A | CA347283042 | ALMS1 | c.10086C>A (p.His3362Gln) c.3172C>A c.7367C>A c.4533C>A (p.His1511Gln) c.7412C>A c.10467C>A (p.His3489Gln) c.621C>A (p.His207Gln) c.1823C>A c.1564C>A c.3958C>A (n.3958C>A) c.10341C>A (p.His3447Gln) n.4270C>A c.10470C>A (p.His3490Gln) | gnomAD v4 |
2 | g.73572344C= | CA1261020937 | ALMS1 | c.10086C= (p.His3362=) c.3172C= c.7367C= c.4533C= (p.His1511=) c.7412C= c.10467C= (p.His3489=) c.621C= (p.His207=) c.1823C= c.1564C= c.3958C= (n.3958C=) c.10341C= (p.His3447=) n.4270C= c.10470C= (p.His3490=) | |
2 | g.73572344C>G | CA347283044 | ALMS1 | c.10086C>G (p.His3362Gln) c.3172C>G c.7367C>G c.4533C>G (p.His1511Gln) c.7412C>G c.10467C>G (p.His3489Gln) c.621C>G (p.His207Gln) c.1823C>G c.1564C>G c.3958C>G (n.3958C>G) c.10341C>G (p.His3447Gln) n.4270C>G c.10470C>G (p.His3490Gln) | |
2 | g.73572344C>T | CA50386155 | ALMS1 | c.10086C>T (p.His3362=) c.3172C>T c.7367C>T c.4533C>T (p.His1511=) c.7412C>T c.10467C>T (p.His3489=) c.621C>T (p.His207=) c.1823C>T c.1564C>T c.3958C>T (n.3958C>T) c.10341C>T (p.His3447=) n.4270C>T c.10470C>T (p.His3490=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572345del | CA2586964936 | ALMS1 | c.10087del (p.Leu3363TyrfsTer18) c.3173del c.7368del c.4534del (p.Leu1512TyrfsTer18) c.7413del c.10468del (p.Leu3490TyrfsTer18) c.622del (p.Leu208TyrfsTer18) c.1824del c.1565del c.3959del (n.3959del) c.10342del (p.Leu3448TyrfsTer18) n.4271del c.10471del (p.Leu3491TyrfsTer18) | |
2 | g.73572345C>A | CA347283048 | ALMS1 | c.10087C>A (p.Leu3363Ile) c.3173C>A c.7368C>A c.4534C>A (p.Leu1512Ile) c.7413C>A c.10468C>A (p.Leu3490Ile) c.622C>A (p.Leu208Ile) c.1824C>A c.1565C>A c.3959C>A (n.3959C>A) c.10342C>A (p.Leu3448Ile) n.4271C>A c.10471C>A (p.Leu3491Ile) | |
2 | g.73572345C>G | CA347283051 | ALMS1 | c.10087C>G (p.Leu3363Val) c.3173C>G c.7368C>G c.4534C>G (p.Leu1512Val) c.7413C>G c.10468C>G (p.Leu3490Val) c.622C>G (p.Leu208Val) c.1824C>G c.1565C>G c.3959C>G (n.3959C>G) c.10342C>G (p.Leu3448Val) n.4271C>G c.10471C>G (p.Leu3491Val) | |
2 | g.73572345C>T | CA427024395 | ALMS1 | c.10087C>T (p.Leu3363=) c.3173C>T c.7368C>T c.4534C>T (p.Leu1512=) c.7413C>T c.10468C>T (p.Leu3490=) c.622C>T (p.Leu208=) c.1824C>T c.1565C>T c.3959C>T (n.3959C>T) c.10342C>T (p.Leu3448=) n.4271C>T c.10471C>T (p.Leu3491=) | ClinVar |
2 | g.73572346T>A | CA347283055 | ALMS1 | c.10088T>A (p.Leu3363Gln) c.3174T>A c.7369T>A c.4535T>A (p.Leu1512Gln) c.7414T>A c.10469T>A (p.Leu3490Gln) c.623T>A (p.Leu208Gln) c.1825T>A c.1566T>A c.3960T>A (n.3960T>A) c.10343T>A (p.Leu3448Gln) n.4272T>A c.10472T>A (p.Leu3491Gln) | |
2 | g.73572346T>C | CA347283057 | ALMS1 | c.10088T>C (p.Leu3363Pro) c.3174T>C c.7369T>C c.4535T>C (p.Leu1512Pro) c.7414T>C c.10469T>C (p.Leu3490Pro) c.623T>C (p.Leu208Pro) c.1825T>C c.1566T>C c.3960T>C (n.3960T>C) c.10343T>C (p.Leu3448Pro) n.4272T>C c.10472T>C (p.Leu3491Pro) | |
2 | g.73572346T>G | CA347283060 | ALMS1 | c.10088T>G (p.Leu3363Arg) c.3174T>G c.7369T>G c.4535T>G (p.Leu1512Arg) c.7414T>G c.10469T>G (p.Leu3490Arg) c.623T>G (p.Leu208Arg) c.1825T>G c.1566T>G c.3960T>G (n.3960T>G) c.10343T>G (p.Leu3448Arg) n.4272T>G c.10472T>G (p.Leu3491Arg) | |
2 | g.73572347A>C | CA427024401 | ALMS1 | c.10089A>C (p.Leu3363=) c.3175A>C c.7370A>C c.4536A>C (p.Leu1512=) c.7415A>C c.10470A>C (p.Leu3490=) c.624A>C (p.Leu208=) c.1826A>C c.1567A>C c.3961A>C (n.3961A>C) c.10344A>C (p.Leu3448=) n.4273A>C c.10473A>C (p.Leu3491=) | |
2 | g.73572347A>G | CA427024404 | ALMS1 | c.10089A>G (p.Leu3363=) c.3175A>G c.7370A>G c.4536A>G (p.Leu1512=) c.7415A>G c.10470A>G (p.Leu3490=) c.624A>G (p.Leu208=) c.1826A>G c.1567A>G c.3961A>G (n.3961A>G) c.10344A>G (p.Leu3448=) n.4273A>G c.10473A>G (p.Leu3491=) | ClinVar dbSNP |
2 | g.73572347A>T | CA427024406 | ALMS1 | c.10089A>T (p.Leu3363=) c.3175A>T c.7370A>T c.4536A>T (p.Leu1512=) c.7415A>T c.10470A>T (p.Leu3490=) c.624A>T (p.Leu208=) c.1826A>T c.1567A>T c.3961A>T (n.3961A>T) c.10344A>T (p.Leu3448=) n.4273A>T c.10473A>T (p.Leu3491=) | |
2 | g.73572348C>A | CA347283063 | ALMS1 | c.10090C>A (p.Pro3364Thr) c.3176C>A c.7371C>A c.4537C>A (p.Pro1513Thr) c.7416C>A c.10471C>A (p.Pro3491Thr) c.625C>A (p.Pro209Thr) c.1827C>A c.1568C>A c.3962C>A (n.3962C>A) c.10345C>A (p.Pro3449Thr) n.4274C>A c.10474C>A (p.Pro3492Thr) | |
2 | g.73572348C>G | CA347283065 | ALMS1 | c.10090C>G (p.Pro3364Ala) c.3176C>G c.7371C>G c.4537C>G (p.Pro1513Ala) c.7416C>G c.10471C>G (p.Pro3491Ala) c.625C>G (p.Pro209Ala) c.1827C>G c.1568C>G c.3962C>G (n.3962C>G) c.10345C>G (p.Pro3449Ala) n.4274C>G c.10474C>G (p.Pro3492Ala) | |
2 | g.73572348C>T | CA347283068 | ALMS1 | c.10090C>T (p.Pro3364Ser) c.3176C>T c.7371C>T c.4537C>T (p.Pro1513Ser) c.7416C>T c.10471C>T (p.Pro3491Ser) c.625C>T (p.Pro209Ser) c.1827C>T c.1568C>T c.3962C>T (n.3962C>T) c.10345C>T (p.Pro3449Ser) n.4274C>T c.10474C>T (p.Pro3492Ser) | |
2 | g.73572349C>A | CA347283076 | ALMS1 | c.10091C>A (p.Pro3364Gln) c.3177C>A c.7372C>A c.4538C>A (p.Pro1513Gln) c.7417C>A c.10472C>A (p.Pro3491Gln) c.626C>A (p.Pro209Gln) c.1828C>A c.1569C>A c.3963C>A (n.3963C>A) c.10346C>A (p.Pro3449Gln) n.4275C>A c.10475C>A (p.Pro3492Gln) | gnomAD v4 |
2 | g.73572349C>G | CA347283071 | ALMS1 | c.10091C>G (p.Pro3364Arg) c.3177C>G c.7372C>G c.4538C>G (p.Pro1513Arg) c.7417C>G c.10472C>G (p.Pro3491Arg) c.626C>G (p.Pro209Arg) c.1828C>G c.1569C>G c.3963C>G (n.3963C>G) c.10346C>G (p.Pro3449Arg) n.4275C>G c.10475C>G (p.Pro3492Arg) | |
2 | g.73572349C>T | CA347283073 | ALMS1 | c.10091C>T (p.Pro3364Leu) c.3177C>T c.7372C>T c.4538C>T (p.Pro1513Leu) c.7417C>T c.10472C>T (p.Pro3491Leu) c.626C>T (p.Pro209Leu) c.1828C>T c.1569C>T c.3963C>T (n.3963C>T) c.10346C>T (p.Pro3449Leu) n.4275C>T c.10475C>T (p.Pro3492Leu) | dbSNP gnomAD v4 |
2 | g.73572350A>C | CA427024416 | ALMS1 | c.10092A>C (p.Pro3364=) c.3178A>C c.7373A>C c.4539A>C (p.Pro1513=) c.7418A>C c.10473A>C (p.Pro3491=) c.627A>C (p.Pro209=) c.1829A>C c.1570A>C c.3964A>C (n.3964A>C) c.10347A>C (p.Pro3449=) n.4276A>C c.10476A>C (p.Pro3492=) | |
2 | g.73572350A>G | CA427024417 | ALMS1 | c.10092A>G (p.Pro3364=) c.3178A>G c.7373A>G c.4539A>G (p.Pro1513=) c.7418A>G c.10473A>G (p.Pro3491=) c.627A>G (p.Pro209=) c.1829A>G c.1570A>G c.3964A>G (n.3964A>G) c.10347A>G (p.Pro3449=) n.4276A>G c.10476A>G (p.Pro3492=) | |
2 | g.73572350A>T | CA427024418 | ALMS1 | c.10092A>T (p.Pro3364=) c.3178A>T c.7373A>T c.4539A>T (p.Pro1513=) c.7418A>T c.10473A>T (p.Pro3491=) c.627A>T (p.Pro209=) c.1829A>T c.1570A>T c.3964A>T (n.3964A>T) c.10347A>T (p.Pro3449=) n.4276A>T c.10476A>T (p.Pro3492=) | |
2 | g.73572351A= | CA1261020943 | ALMS1 | c.10093A= (p.Ser3365=) c.3179A= c.7374A= c.4540A= (p.Ser1514=) c.7419A= c.10474A= (p.Ser3492=) c.628A= (p.Ser210=) c.1830A= c.1571A= c.3965A= (n.3965A=) c.10348A= (p.Ser3450=) n.4277A= c.10477A= (p.Ser3493=) | |
2 | g.73572351A>C | CA347283079 | ALMS1 | c.10093A>C (p.Ser3365Arg) c.3179A>C c.7374A>C c.4540A>C (p.Ser1514Arg) c.7419A>C c.10474A>C (p.Ser3492Arg) c.628A>C (p.Ser210Arg) c.1830A>C c.1571A>C c.3965A>C (n.3965A>C) c.10348A>C (p.Ser3450Arg) n.4277A>C c.10477A>C (p.Ser3493Arg) | |
2 | g.73572351A>G | CA1715009 | ALMS1 | c.10093A>G (p.Ser3365Gly) c.3179A>G c.7374A>G c.4540A>G (p.Ser1514Gly) c.7419A>G c.10474A>G (p.Ser3492Gly) c.628A>G (p.Ser210Gly) c.1830A>G c.1571A>G c.3965A>G (n.3965A>G) c.10348A>G (p.Ser3450Gly) n.4277A>G c.10477A>G (p.Ser3493Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572351A>T | CA347283083 | ALMS1 | c.10093A>T (p.Ser3365Cys) c.3179A>T c.7374A>T c.4540A>T (p.Ser1514Cys) c.7419A>T c.10474A>T (p.Ser3492Cys) c.628A>T (p.Ser210Cys) c.1830A>T c.1571A>T c.3965A>T (n.3965A>T) c.10348A>T (p.Ser3450Cys) n.4277A>T c.10477A>T (p.Ser3493Cys) | gnomAD v4 |
2 | g.73572352G>A | CA347283087 | ALMS1 | c.10094G>A (p.Ser3365Asn) c.3180G>A c.7375G>A c.4541G>A (p.Ser1514Asn) c.7420G>A c.10475G>A (p.Ser3492Asn) c.629G>A (p.Ser210Asn) c.1831G>A c.1572G>A c.3966G>A (n.3966G>A) c.10349G>A (p.Ser3450Asn) n.4278G>A c.10478G>A (p.Ser3493Asn) | |
2 | g.73572352G>C | CA347283089 | ALMS1 | c.10094G>C (p.Ser3365Thr) c.3180G>C c.7375G>C c.4541G>C (p.Ser1514Thr) c.7420G>C c.10475G>C (p.Ser3492Thr) c.629G>C (p.Ser210Thr) c.1831G>C c.1572G>C c.3966G>C (n.3966G>C) c.10349G>C (p.Ser3450Thr) n.4278G>C c.10478G>C (p.Ser3493Thr) | |
2 | g.73572352G>T | CA347283092 | ALMS1 | c.10094G>T (p.Ser3365Ile) c.3180G>T c.7375G>T c.4541G>T (p.Ser1514Ile) c.7420G>T c.10475G>T (p.Ser3492Ile) c.629G>T (p.Ser210Ile) c.1831G>T c.1572G>T c.3966G>T (n.3966G>T) c.10349G>T (p.Ser3450Ile) n.4278G>T c.10478G>T (p.Ser3493Ile) | |
2 | g.73572353T>A | CA347283094 | ALMS1 | c.10095T>A (p.Ser3365Arg) c.3181T>A c.7376T>A c.4542T>A (p.Ser1514Arg) c.7421T>A c.10476T>A (p.Ser3492Arg) c.630T>A (p.Ser210Arg) c.1832T>A c.1573T>A c.3967T>A (n.3967T>A) c.10350T>A (p.Ser3450Arg) n.4279T>A c.10479T>A (p.Ser3493Arg) | |
2 | g.73572353T>C | CA427024427 | ALMS1 | c.10095T>C (p.Ser3365=) c.3181T>C c.7376T>C c.4542T>C (p.Ser1514=) c.7421T>C c.10476T>C (p.Ser3492=) c.630T>C (p.Ser210=) c.1832T>C c.1573T>C c.3967T>C (n.3967T>C) c.10350T>C (p.Ser3450=) n.4279T>C c.10479T>C (p.Ser3493=) | |
2 | g.73572353T>G | CA347283096 | ALMS1 | c.10095T>G (p.Ser3365Arg) c.3181T>G c.7376T>G c.4542T>G (p.Ser1514Arg) c.7421T>G c.10476T>G (p.Ser3492Arg) c.630T>G (p.Ser210Arg) c.1832T>G c.1573T>G c.3967T>G (n.3967T>G) c.10350T>G (p.Ser3450Arg) n.4279T>G c.10479T>G (p.Ser3493Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572353T= | CA1261020946 | ALMS1 | c.10095T= (p.Ser3365=) c.3181T= c.7376T= c.4542T= (p.Ser1514=) c.7421T= c.10476T= (p.Ser3492=) c.630T= (p.Ser210=) c.1832T= c.1573T= c.3967T= (n.3967T=) c.10350T= (p.Ser3450=) n.4279T= c.10479T= (p.Ser3493=) | |
2 | g.73572354G>A | CA50386161 | ALMS1 | c.10096G>A (p.Asp3366Asn) c.3182G>A c.7377G>A c.4543G>A (p.Asp1515Asn) c.7422G>A c.10477G>A (p.Asp3493Asn) c.631G>A (p.Asp211Asn) c.1833G>A c.1574G>A c.3968G>A (n.3968G>A) c.10351G>A (p.Asp3451Asn) n.4280G>A c.10480G>A (p.Asp3494Asn) | dbSNP |
2 | g.73572354G>C | CA347283100 | ALMS1 | c.10096G>C (p.Asp3366His) c.3182G>C c.7377G>C c.4543G>C (p.Asp1515His) c.7422G>C c.10477G>C (p.Asp3493His) c.631G>C (p.Asp211His) c.1833G>C c.1574G>C c.3968G>C (n.3968G>C) c.10351G>C (p.Asp3451His) n.4280G>C c.10480G>C (p.Asp3494His) | |
2 | g.73572354G= | CA1261020951 | ALMS1 | c.10096G= (p.Asp3366=) c.3182G= c.7377G= c.4543G= (p.Asp1515=) c.7422G= c.10477G= (p.Asp3493=) c.631G= (p.Asp211=) c.1833G= c.1574G= c.3968G= (n.3968G=) c.10351G= (p.Asp3451=) n.4280G= c.10480G= (p.Asp3494=) | |
2 | g.73572354G>T | CA347283102 | ALMS1 | c.10096G>T (p.Asp3366Tyr) c.3182G>T c.7377G>T c.4543G>T (p.Asp1515Tyr) c.7422G>T c.10477G>T (p.Asp3493Tyr) c.631G>T (p.Asp211Tyr) c.1833G>T c.1574G>T c.3968G>T (n.3968G>T) c.10351G>T (p.Asp3451Tyr) n.4280G>T c.10480G>T (p.Asp3494Tyr) | |
2 | g.73572355A>C | CA347283104 | ALMS1 | c.10097A>C (p.Asp3366Ala) c.3183A>C c.7378A>C c.4544A>C (p.Asp1515Ala) c.7423A>C c.10478A>C (p.Asp3493Ala) c.632A>C (p.Asp211Ala) c.1834A>C c.1575A>C c.3969A>C (n.3969A>C) c.10352A>C (p.Asp3451Ala) n.4281A>C c.10481A>C (p.Asp3494Ala) | |
2 | g.73572355A>G | CA347283105 | ALMS1 | c.10097A>G (p.Asp3366Gly) c.3183A>G c.7378A>G c.4544A>G (p.Asp1515Gly) c.7423A>G c.10478A>G (p.Asp3493Gly) c.632A>G (p.Asp211Gly) c.1834A>G c.1575A>G c.3969A>G (n.3969A>G) c.10352A>G (p.Asp3451Gly) n.4281A>G c.10481A>G (p.Asp3494Gly) | |
2 | g.73572355A>T | CA347283108 | ALMS1 | c.10097A>T (p.Asp3366Val) c.3183A>T c.7378A>T c.4544A>T (p.Asp1515Val) c.7423A>T c.10478A>T (p.Asp3493Val) c.632A>T (p.Asp211Val) c.1834A>T c.1575A>T c.3969A>T (n.3969A>T) c.10352A>T (p.Asp3451Val) n.4281A>T c.10481A>T (p.Asp3494Val) | |
2 | g.73572356T>A | CA347283114 | ALMS1 | c.10098T>A (p.Asp3366Glu) c.3184T>A c.7379T>A c.4545T>A (p.Asp1515Glu) c.7424T>A c.10479T>A (p.Asp3493Glu) c.633T>A (p.Asp211Glu) c.1835T>A c.1576T>A c.3970T>A (n.3970T>A) c.10353T>A (p.Asp3451Glu) n.4282T>A c.10482T>A (p.Asp3494Glu) | |
2 | g.73572356T>C | CA427024440 | ALMS1 | c.10098T>C (p.Asp3366=) c.3184T>C c.7379T>C c.4545T>C (p.Asp1515=) c.7424T>C c.10479T>C (p.Asp3493=) c.633T>C (p.Asp211=) c.1835T>C c.1576T>C c.3970T>C (n.3970T>C) c.10353T>C (p.Asp3451=) n.4282T>C c.10482T>C (p.Asp3494=) | |
2 | g.73572356T>G | CA347283112 | ALMS1 | c.10098T>G (p.Asp3366Glu) c.3184T>G c.7379T>G c.4545T>G (p.Asp1515Glu) c.7424T>G c.10479T>G (p.Asp3493Glu) c.633T>G (p.Asp211Glu) c.1835T>G c.1576T>G c.3970T>G (n.3970T>G) c.10353T>G (p.Asp3451Glu) n.4282T>G c.10482T>G (p.Asp3494Glu) | |
2 | g.73572356_73572357delinsTC | CA1261020953 | ALMS1 | c.10098_10099delinsTC (p.Asp3366=) c.3184_3185delinsTC c.7379_7380delinsTC c.4545_4546delinsTC (p.Asp1515=) c.7424_7425delinsTC c.10479_10480delinsTC (p.Asp3493=) c.633_634delinsTC (p.Asp211=) c.1835_1836delinsTC c.1576_1577delinsTC c.3970_3971delinsTC (n.3970_3971delinsTC) c.10353_10354delinsTC (p.Asp3451=) n.4282_4283delinsTC c.10482_10483delinsTC (p.Asp3494=) | |
2 | g.73572357del | CA534124624 | ALMS1 | c.10099del (p.Gln3367LysfsTer14) c.3185del c.7380del c.4546del (p.Gln1516LysfsTer14) c.7425del c.10480del (p.Gln3494LysfsTer14) c.634del (p.Gln212LysfsTer14) c.1836del c.1577del c.3971del (n.3971del) c.10354del (p.Gln3452LysfsTer14) n.4283del c.10483del (p.Gln3495LysfsTer14) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572357C>A | CA347283117 | ALMS1 | c.10099C>A (p.Gln3367Lys) c.3185C>A c.7380C>A c.4546C>A (p.Gln1516Lys) c.7425C>A c.10480C>A (p.Gln3494Lys) c.634C>A (p.Gln212Lys) c.1836C>A c.1577C>A c.3971C>A (n.3971C>A) c.10354C>A (p.Gln3452Lys) n.4283C>A c.10483C>A (p.Gln3495Lys) | |
2 | g.73572357C= | CA1261020963 | ALMS1 | c.10099C= (p.Gln3367=) c.3185C= c.7380C= c.4546C= (p.Gln1516=) c.7425C= c.10480C= (p.Gln3494=) c.634C= (p.Gln212=) c.1836C= c.1577C= c.3971C= (n.3971C=) c.10354C= (p.Gln3452=) n.4283C= c.10483C= (p.Gln3495=) | |
2 | g.73572357C>G | CA1715010 | ALMS1 | c.10099C>G (p.Gln3367Glu) c.3185C>G c.7380C>G c.4546C>G (p.Gln1516Glu) c.7425C>G c.10480C>G (p.Gln3494Glu) c.634C>G (p.Gln212Glu) c.1836C>G c.1577C>G c.3971C>G (n.3971C>G) c.10354C>G (p.Gln3452Glu) n.4283C>G c.10483C>G (p.Gln3495Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572357C>T | CA277038 | ALMS1 | c.10099C>T (p.Gln3367Ter) c.3185C>T c.7380C>T c.4546C>T (p.Gln1516Ter) c.7425C>T c.10480C>T (p.Gln3494Ter) c.634C>T (p.Gln212Ter) c.1836C>T c.1577C>T c.3971C>T (n.3971C>T) c.10354C>T (p.Gln3452Ter) n.4283C>T c.10483C>T (p.Gln3495Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572358A= | CA1261020972 | ALMS1 | c.10100A= (p.Gln3367=) c.3186A= c.7381A= c.4547A= (p.Gln1516=) c.7426A= c.10481A= (p.Gln3494=) c.635A= (p.Gln212=) c.1837A= c.1578A= c.3972A= (n.3972A=) c.10355A= (p.Gln3452=) n.4284A= c.10484A= (p.Gln3495=) | |
2 | g.73572358A>C | CA347283123 | ALMS1 | c.10100A>C (p.Gln3367Pro) c.3186A>C c.7381A>C c.4547A>C (p.Gln1516Pro) c.7426A>C c.10481A>C (p.Gln3494Pro) c.635A>C (p.Gln212Pro) c.1837A>C c.1578A>C c.3972A>C (n.3972A>C) c.10355A>C (p.Gln3452Pro) n.4284A>C c.10484A>C (p.Gln3495Pro) | gnomAD v4 |
2 | g.73572358A>G | CA347283125 | ALMS1 | c.10100A>G (p.Gln3367Arg) c.3186A>G c.7381A>G c.4547A>G (p.Gln1516Arg) c.7426A>G c.10481A>G (p.Gln3494Arg) c.635A>G (p.Gln212Arg) c.1837A>G c.1578A>G c.3972A>G (n.3972A>G) c.10355A>G (p.Gln3452Arg) n.4284A>G c.10484A>G (p.Gln3495Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.73572358A>T | CA347283126 | ALMS1 | c.10100A>T (p.Gln3367Leu) c.3186A>T c.7381A>T c.4547A>T (p.Gln1516Leu) c.7426A>T c.10481A>T (p.Gln3494Leu) c.635A>T (p.Gln212Leu) c.1837A>T c.1578A>T c.3972A>T (n.3972A>T) c.10355A>T (p.Gln3452Leu) n.4284A>T c.10484A>T (p.Gln3495Leu) | |
2 | g.73572359A>C | CA347283131 | ALMS1 | c.10101A>C (p.Gln3367His) c.3187A>C c.7382A>C c.4548A>C (p.Gln1516His) c.7427A>C c.10482A>C (p.Gln3494His) c.636A>C (p.Gln212His) c.1838A>C c.1579A>C c.3973A>C (n.3973A>C) c.10356A>C (p.Gln3452His) n.4285A>C c.10485A>C (p.Gln3495His) | |
2 | g.73572359A>G | CA427024457 | ALMS1 | c.10101A>G (p.Gln3367=) c.3187A>G c.7382A>G c.4548A>G (p.Gln1516=) c.7427A>G c.10482A>G (p.Gln3494=) c.636A>G (p.Gln212=) c.1838A>G c.1579A>G c.3973A>G (n.3973A>G) c.10356A>G (p.Gln3452=) n.4285A>G c.10485A>G (p.Gln3495=) | ClinVar dbSNP |
2 | g.73572359A>T | CA347283129 | ALMS1 | c.10101A>T (p.Gln3367His) c.3187A>T c.7382A>T c.4548A>T (p.Gln1516His) c.7427A>T c.10482A>T (p.Gln3494His) c.636A>T (p.Gln212His) c.1838A>T c.1579A>T c.3973A>T (n.3973A>T) c.10356A>T (p.Gln3452His) n.4285A>T c.10485A>T (p.Gln3495His) | |
2 | g.73572360G>A | CA347283134 | ALMS1 | c.10102G>A (p.Asp3368Asn) c.3188G>A c.7383G>A c.4549G>A (p.Asp1517Asn) c.7428G>A c.10483G>A (p.Asp3495Asn) c.637G>A (p.Asp213Asn) c.1839G>A c.1580G>A c.3974G>A (n.3974G>A) c.10357G>A (p.Asp3453Asn) n.4286G>A c.10486G>A (p.Asp3496Asn) | ClinVar dbSNP gnomAD v4 |
2 | g.73572360G>C | CA50386177 | ALMS1 | c.10102G>C (p.Asp3368His) c.3188G>C c.7383G>C c.4549G>C (p.Asp1517His) c.7428G>C c.10483G>C (p.Asp3495His) c.637G>C (p.Asp213His) c.1839G>C c.1580G>C c.3974G>C (n.3974G>C) c.10357G>C (p.Asp3453His) n.4286G>C c.10486G>C (p.Asp3496His) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572360G= | CA1261020974 | ALMS1 | c.10102G= (p.Asp3368=) c.3188G= c.7383G= c.4549G= (p.Asp1517=) c.7428G= c.10483G= (p.Asp3495=) c.637G= (p.Asp213=) c.1839G= c.1580G= c.3974G= (n.3974G=) c.10357G= (p.Asp3453=) n.4286G= c.10486G= (p.Asp3496=) | |
2 | g.73572360G>T | CA347283136 | ALMS1 | c.10102G>T (p.Asp3368Tyr) c.3188G>T c.7383G>T c.4549G>T (p.Asp1517Tyr) c.7428G>T c.10483G>T (p.Asp3495Tyr) c.637G>T (p.Asp213Tyr) c.1839G>T c.1580G>T c.3974G>T (n.3974G>T) c.10357G>T (p.Asp3453Tyr) n.4286G>T c.10486G>T (p.Asp3496Tyr) | |
2 | g.73572361A= | CA1261020977 | ALMS1 | c.10103A= (p.Asp3368=) c.3189A= c.7384A= c.4550A= (p.Asp1517=) c.7429A= c.10484A= (p.Asp3495=) c.638A= (p.Asp213=) c.1840A= c.1581A= c.3975A= (n.3975A=) c.10358A= (p.Asp3453=) n.4287A= c.10487A= (p.Asp3496=) | |
2 | g.73572361A>C | CA347283139 | ALMS1 | c.10103A>C (p.Asp3368Ala) c.3189A>C c.7384A>C c.4550A>C (p.Asp1517Ala) c.7429A>C c.10484A>C (p.Asp3495Ala) c.638A>C (p.Asp213Ala) c.1840A>C c.1581A>C c.3975A>C (n.3975A>C) c.10358A>C (p.Asp3453Ala) n.4287A>C c.10487A>C (p.Asp3496Ala) | |
2 | g.73572361A>G | CA1715012 | ALMS1 | c.10103A>G (p.Asp3368Gly) c.3189A>G c.7384A>G c.4550A>G (p.Asp1517Gly) c.7429A>G c.10484A>G (p.Asp3495Gly) c.638A>G (p.Asp213Gly) c.1840A>G c.1581A>G c.3975A>G (n.3975A>G) c.10358A>G (p.Asp3453Gly) n.4287A>G c.10487A>G (p.Asp3496Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572361A>T | CA1715011 | ALMS1 | c.10103A>T (p.Asp3368Val) c.3189A>T c.7384A>T c.4550A>T (p.Asp1517Val) c.7429A>T c.10484A>T (p.Asp3495Val) c.638A>T (p.Asp213Val) c.1840A>T c.1581A>T c.3975A>T (n.3975A>T) c.10358A>T (p.Asp3453Val) n.4287A>T c.10487A>T (p.Asp3496Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572362T>A | CA347283146 | ALMS1 | c.10104T>A (p.Asp3368Glu) c.3190T>A c.7385T>A c.4551T>A (p.Asp1517Glu) c.7430T>A c.10485T>A (p.Asp3495Glu) c.639T>A (p.Asp213Glu) c.1841T>A c.1582T>A c.3976T>A (n.3976T>A) c.10359T>A (p.Asp3453Glu) n.4288T>A c.10488T>A (p.Asp3496Glu) | gnomAD v4 |
2 | g.73572362T>C | CA1715013 | ALMS1 | c.10104T>C (p.Asp3368=) c.3190T>C c.7385T>C c.4551T>C (p.Asp1517=) c.7430T>C c.10485T>C (p.Asp3495=) c.639T>C (p.Asp213=) c.1841T>C c.1582T>C c.3976T>C (n.3976T>C) c.10359T>C (p.Asp3453=) n.4288T>C c.10488T>C (p.Asp3496=) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.73572362T>G | CA347283148 | ALMS1 | c.10104T>G (p.Asp3368Glu) c.3190T>G c.7385T>G c.4551T>G (p.Asp1517Glu) c.7430T>G c.10485T>G (p.Asp3495Glu) c.639T>G (p.Asp213Glu) c.1841T>G c.1582T>G c.3976T>G (n.3976T>G) c.10359T>G (p.Asp3453Glu) n.4288T>G c.10488T>G (p.Asp3496Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572362T= | CA1261020981 | ALMS1 | c.10104T= (p.Asp3368=) c.3190T= c.7385T= c.4551T= (p.Asp1517=) c.7430T= c.10485T= (p.Asp3495=) c.639T= (p.Asp213=) c.1841T= c.1582T= c.3976T= (n.3976T=) c.10359T= (p.Asp3453=) n.4288T= c.10488T= (p.Asp3496=) | |
2 | g.73572363A= | CA1261020983 | ALMS1 | c.10105A= (p.Ile3369=) c.3191A= c.7386A= c.4552A= (p.Ile1518=) c.7431A= c.10486A= (p.Ile3496=) c.640A= (p.Ile214=) c.1842A= c.1583A= c.3977A= (n.3977A=) c.10360A= (p.Ile3454=) n.4289A= c.10489A= (p.Ile3497=) | |
2 | g.73572363A>C | CA347283154 | ALMS1 | c.10105A>C (p.Ile3369Leu) c.3191A>C c.7386A>C c.4552A>C (p.Ile1518Leu) c.7431A>C c.10486A>C (p.Ile3496Leu) c.640A>C (p.Ile214Leu) c.1842A>C c.1583A>C c.3977A>C (n.3977A>C) c.10360A>C (p.Ile3454Leu) n.4289A>C c.10489A>C (p.Ile3497Leu) | |
2 | g.73572363A>G | CA347283156 | ALMS1 | c.10105A>G (p.Ile3369Val) c.3191A>G c.7386A>G c.4552A>G (p.Ile1518Val) c.7431A>G c.10486A>G (p.Ile3496Val) c.640A>G (p.Ile214Val) c.1842A>G c.1583A>G c.3977A>G (n.3977A>G) c.10360A>G (p.Ile3454Val) n.4289A>G c.10489A>G (p.Ile3497Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572363A>T | CA347283158 | ALMS1 | c.10105A>T (p.Ile3369Phe) c.3191A>T c.7386A>T c.4552A>T (p.Ile1518Phe) c.7431A>T c.10486A>T (p.Ile3496Phe) c.640A>T (p.Ile214Phe) c.1842A>T c.1583A>T c.3977A>T (n.3977A>T) c.10360A>T (p.Ile3454Phe) n.4289A>T c.10489A>T (p.Ile3497Phe) | |
2 | g.73572364T>A | CA347283161 | ALMS1 | c.10106T>A (p.Ile3369Asn) c.3192T>A c.7387T>A c.4553T>A (p.Ile1518Asn) c.7432T>A c.10487T>A (p.Ile3496Asn) c.641T>A (p.Ile214Asn) c.1843T>A c.1584T>A c.3978T>A (n.3978T>A) c.10361T>A (p.Ile3454Asn) n.4290T>A c.10490T>A (p.Ile3497Asn) | |
2 | g.73572364T>C | CA347283163 | ALMS1 | c.10106T>C (p.Ile3369Thr) c.3192T>C c.7387T>C c.4553T>C (p.Ile1518Thr) c.7432T>C c.10487T>C (p.Ile3496Thr) c.641T>C (p.Ile214Thr) c.1843T>C c.1584T>C c.3978T>C (n.3978T>C) c.10361T>C (p.Ile3454Thr) n.4290T>C c.10490T>C (p.Ile3497Thr) | |
2 | g.73572364T>G | CA347283166 | ALMS1 | c.10106T>G (p.Ile3369Ser) c.3192T>G c.7387T>G c.4553T>G (p.Ile1518Ser) c.7432T>G c.10487T>G (p.Ile3496Ser) c.641T>G (p.Ile214Ser) c.1843T>G c.1584T>G c.3978T>G (n.3978T>G) c.10361T>G (p.Ile3454Ser) n.4290T>G c.10490T>G (p.Ile3497Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572364T= | CA1261020985 | ALMS1 | c.10106T= (p.Ile3369=) c.3192T= c.7387T= c.4553T= (p.Ile1518=) c.7432T= c.10487T= (p.Ile3496=) c.641T= (p.Ile214=) c.1843T= c.1584T= c.3978T= (n.3978T=) c.10361T= (p.Ile3454=) n.4290T= c.10490T= (p.Ile3497=) | |
2 | g.73572365T>A | CA427024487 | ALMS1 | c.10107T>A (p.Ile3369=) c.3193T>A c.7388T>A c.4554T>A (p.Ile1518=) c.7433T>A c.10488T>A (p.Ile3496=) c.642T>A (p.Ile214=) c.1844T>A c.1585T>A c.3979T>A (n.3979T>A) c.10362T>A (p.Ile3454=) n.4291T>A c.10491T>A (p.Ile3497=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572365T>C | CA427024488 | ALMS1 | c.10107T>C (p.Ile3369=) c.3193T>C c.7388T>C c.4554T>C (p.Ile1518=) c.7433T>C c.10488T>C (p.Ile3496=) c.642T>C (p.Ile214=) c.1844T>C c.1585T>C c.3979T>C (n.3979T>C) c.10362T>C (p.Ile3454=) n.4291T>C c.10491T>C (p.Ile3497=) | |
2 | g.73572365T>G | CA347283169 | ALMS1 | c.10107T>G (p.Ile3369Met) c.3193T>G c.7388T>G c.4554T>G (p.Ile1518Met) c.7433T>G c.10488T>G (p.Ile3496Met) c.642T>G (p.Ile214Met) c.1844T>G c.1585T>G c.3979T>G (n.3979T>G) c.10362T>G (p.Ile3454Met) n.4291T>G c.10491T>G (p.Ile3497Met) | |
2 | g.73572365T= | CA1261020988 | ALMS1 | c.10107T= (p.Ile3369=) c.3193T= c.7388T= c.4554T= (p.Ile1518=) c.7433T= c.10488T= (p.Ile3496=) c.642T= (p.Ile214=) c.1844T= c.1585T= c.3979T= (n.3979T=) c.10362T= (p.Ile3454=) n.4291T= c.10491T= (p.Ile3497=) | |
2 | g.73572366T>A | CA347283172 | ALMS1 | c.10108T>A (p.Cys3370Ser) c.3194T>A c.7389T>A c.4555T>A (p.Cys1519Ser) c.7434T>A c.10489T>A (p.Cys3497Ser) c.643T>A (p.Cys215Ser) c.1845T>A c.1586T>A c.3980T>A (n.3980T>A) c.10363T>A (p.Cys3455Ser) n.4292T>A c.10492T>A (p.Cys3498Ser) | |
2 | g.73572366T>C | CA347283175 | ALMS1 | c.10108T>C (p.Cys3370Arg) c.3194T>C c.7389T>C c.4555T>C (p.Cys1519Arg) c.7434T>C c.10489T>C (p.Cys3497Arg) c.643T>C (p.Cys215Arg) c.1845T>C c.1586T>C c.3980T>C (n.3980T>C) c.10363T>C (p.Cys3455Arg) n.4292T>C c.10492T>C (p.Cys3498Arg) | |
2 | g.73572366T>G | CA347283177 | ALMS1 | c.10108T>G (p.Cys3370Gly) c.3194T>G c.7389T>G c.4555T>G (p.Cys1519Gly) c.7434T>G c.10489T>G (p.Cys3497Gly) c.643T>G (p.Cys215Gly) c.1845T>G c.1586T>G c.3980T>G (n.3980T>G) c.10363T>G (p.Cys3455Gly) n.4292T>G c.10492T>G (p.Cys3498Gly) | |
2 | g.73572367G>A | CA347283180 | ALMS1 | c.10109G>A (p.Cys3370Tyr) c.3195G>A c.7390G>A c.4556G>A (p.Cys1519Tyr) c.7435G>A c.10490G>A (p.Cys3497Tyr) c.644G>A (p.Cys215Tyr) c.1846G>A c.1587G>A c.3981G>A (n.3981G>A) c.10364G>A (p.Cys3455Tyr) n.4293G>A c.10493G>A (p.Cys3498Tyr) | ClinVar gnomAD v4 |
2 | g.73572367G>C | CA347283183 | ALMS1 | c.10109G>C (p.Cys3370Ser) c.3195G>C c.7390G>C c.4556G>C (p.Cys1519Ser) c.7435G>C c.10490G>C (p.Cys3497Ser) c.644G>C (p.Cys215Ser) c.1846G>C c.1587G>C c.3981G>C (n.3981G>C) c.10364G>C (p.Cys3455Ser) n.4293G>C c.10493G>C (p.Cys3498Ser) | ClinVar gnomAD v4 |
2 | g.73572367G>T | CA347283185 | ALMS1 | c.10109G>T (p.Cys3370Phe) c.3195G>T c.7390G>T c.4556G>T (p.Cys1519Phe) c.7435G>T c.10490G>T (p.Cys3497Phe) c.644G>T (p.Cys215Phe) c.1846G>T c.1587G>T c.3981G>T (n.3981G>T) c.10364G>T (p.Cys3455Phe) n.4293G>T c.10493G>T (p.Cys3498Phe) | |
2 | g.73572368C>A | CA347283191 | ALMS1 | c.10110C>A (p.Cys3370Ter) c.3196C>A c.7391C>A c.4557C>A (p.Cys1519Ter) c.7436C>A c.10491C>A (p.Cys3497Ter) c.645C>A (p.Cys215Ter) c.1847C>A c.1588C>A c.3982C>A (n.3982C>A) c.10365C>A (p.Cys3455Ter) n.4294C>A c.10494C>A (p.Cys3498Ter) | |
2 | g.73572368C>G | CA347283188 | ALMS1 | c.10110C>G (p.Cys3370Trp) c.3196C>G c.7391C>G c.4557C>G (p.Cys1519Trp) c.7436C>G c.10491C>G (p.Cys3497Trp) c.645C>G (p.Cys215Trp) c.1847C>G c.1588C>G c.3982C>G (n.3982C>G) c.10365C>G (p.Cys3455Trp) n.4294C>G c.10494C>G (p.Cys3498Trp) | |
2 | g.73572368C>T | CA427024492 | ALMS1 | c.10110C>T (p.Cys3370=) c.3196C>T c.7391C>T c.4557C>T (p.Cys1519=) c.7436C>T c.10491C>T (p.Cys3497=) c.645C>T (p.Cys215=) c.1847C>T c.1588C>T c.3982C>T (n.3982C>T) c.10365C>T (p.Cys3455=) n.4294C>T c.10494C>T (p.Cys3498=) | |
2 | g.73572369C>A | CA347283195 | ALMS1 | c.10111C>A (p.His3371Asn) c.3197C>A c.7392C>A c.4558C>A (p.His1520Asn) c.7437C>A c.10492C>A (p.His3498Asn) c.646C>A (p.His216Asn) c.1848C>A c.1589C>A c.3983C>A (n.3983C>A) c.10366C>A (p.His3456Asn) n.4295C>A c.10495C>A (p.His3499Asn) | |
2 | g.73572369C= | CA1261020991 | ALMS1 | c.10111C= (p.His3371=) c.3197C= c.7392C= c.4558C= (p.His1520=) c.7437C= c.10492C= (p.His3498=) c.646C= (p.His216=) c.1848C= c.1589C= c.3983C= (n.3983C=) c.10366C= (p.His3456=) n.4295C= c.10495C= (p.His3499=) | |
2 | g.73572369C>G | CA347283197 | ALMS1 | c.10111C>G (p.His3371Asp) c.3197C>G c.7392C>G c.4558C>G (p.His1520Asp) c.7437C>G c.10492C>G (p.His3498Asp) c.646C>G (p.His216Asp) c.1848C>G c.1589C>G c.3983C>G (n.3983C>G) c.10366C>G (p.His3456Asp) n.4295C>G c.10495C>G (p.His3499Asp) | |
2 | g.73572369C>T | CA347283199 | ALMS1 | c.10111C>T (p.His3371Tyr) c.3197C>T c.7392C>T c.4558C>T (p.His1520Tyr) c.7437C>T c.10492C>T (p.His3498Tyr) c.646C>T (p.His216Tyr) c.1848C>T c.1589C>T c.3983C>T (n.3983C>T) c.10366C>T (p.His3456Tyr) n.4295C>T c.10495C>T (p.His3499Tyr) | dbSNP |
2 | g.73572370A= | CA1261020996 | ALMS1 | c.10112A= (p.His3371=) c.3198A= c.7393A= c.4559A= (p.His1520=) c.7438A= c.10493A= (p.His3498=) c.647A= (p.His216=) c.1849A= c.1590A= c.3984A= (n.3984A=) c.10367A= (p.His3456=) n.4296A= c.10496A= (p.His3499=) | |
2 | g.73572370A>C | CA347283202 | ALMS1 | c.10112A>C (p.His3371Pro) c.3198A>C c.7393A>C c.4559A>C (p.His1520Pro) c.7438A>C c.10493A>C (p.His3498Pro) c.647A>C (p.His216Pro) c.1849A>C c.1590A>C c.3984A>C (n.3984A>C) c.10367A>C (p.His3456Pro) n.4296A>C c.10496A>C (p.His3499Pro) | |
2 | g.73572370A>G | CA1715014 | ALMS1 | c.10112A>G (p.His3371Arg) c.3198A>G c.7393A>G c.4559A>G (p.His1520Arg) c.7438A>G c.10493A>G (p.His3498Arg) c.647A>G (p.His216Arg) c.1849A>G c.1590A>G c.3984A>G (n.3984A>G) c.10367A>G (p.His3456Arg) n.4296A>G c.10496A>G (p.His3499Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572370A>T | CA347283206 | ALMS1 | c.10112A>T (p.His3371Leu) c.3198A>T c.7393A>T c.4559A>T (p.His1520Leu) c.7438A>T c.10493A>T (p.His3498Leu) c.647A>T (p.His216Leu) c.1849A>T c.1590A>T c.3984A>T (n.3984A>T) c.10367A>T (p.His3456Leu) n.4296A>T c.10496A>T (p.His3499Leu) | |
2 | g.73572371T>A | CA347283210 | ALMS1 | c.10113T>A (p.His3371Gln) c.3199T>A c.7394T>A c.4560T>A (p.His1520Gln) c.7439T>A c.10494T>A (p.His3498Gln) c.648T>A (p.His216Gln) c.1850T>A c.1591T>A c.3985T>A (n.3985T>A) c.10368T>A (p.His3456Gln) n.4297T>A c.10497T>A (p.His3499Gln) | |
2 | g.73572371T>C | CA1715015 | ALMS1 | c.10113T>C (p.His3371=) c.3199T>C c.7394T>C c.4560T>C (p.His1520=) c.7439T>C c.10494T>C (p.His3498=) c.648T>C (p.His216=) c.1850T>C c.1591T>C c.3985T>C (n.3985T>C) c.10368T>C (p.His3456=) n.4297T>C c.10497T>C (p.His3499=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572371T>G | CA347283214 | ALMS1 | c.10113T>G (p.His3371Gln) c.3199T>G c.7394T>G c.4560T>G (p.His1520Gln) c.7439T>G c.10494T>G (p.His3498Gln) c.648T>G (p.His216Gln) c.1850T>G c.1591T>G c.3985T>G (n.3985T>G) c.10368T>G (p.His3456Gln) n.4297T>G c.10497T>G (p.His3499Gln) | |
2 | g.73572371T= | CA1261020999 | ALMS1 | c.10113T= (p.His3371=) c.3199T= c.7394T= c.4560T= (p.His1520=) c.7439T= c.10494T= (p.His3498=) c.648T= (p.His216=) c.1850T= c.1591T= c.3985T= (n.3985T=) c.10368T= (p.His3456=) n.4297T= c.10497T= (p.His3499=) | |
2 | g.73572372G>A | CA347283218 | ALMS1 | c.10114G>A (p.Glu3372Lys) c.3200G>A c.7395G>A c.4561G>A (p.Glu1521Lys) c.7440G>A c.10495G>A (p.Glu3499Lys) c.649G>A (p.Glu217Lys) c.1851G>A c.1592G>A c.3986G>A (n.3986G>A) c.10369G>A (p.Glu3457Lys) n.4298G>A c.10498G>A (p.Glu3500Lys) | |
2 | g.73572372G>C | CA347283220 | ALMS1 | c.10114G>C (p.Glu3372Gln) c.3200G>C c.7395G>C c.4561G>C (p.Glu1521Gln) c.7440G>C c.10495G>C (p.Glu3499Gln) c.649G>C (p.Glu217Gln) c.1851G>C c.1592G>C c.3986G>C (n.3986G>C) c.10369G>C (p.Glu3457Gln) n.4298G>C c.10498G>C (p.Glu3500Gln) | |
2 | g.73572372G>T | CA347283222 | ALMS1 | c.10114G>T (p.Glu3372Ter) c.3200G>T c.7395G>T c.4561G>T (p.Glu1521Ter) c.7440G>T c.10495G>T (p.Glu3499Ter) c.649G>T (p.Glu217Ter) c.1851G>T c.1592G>T c.3986G>T (n.3986G>T) c.10369G>T (p.Glu3457Ter) n.4298G>T c.10498G>T (p.Glu3500Ter) | |
2 | g.73572373A= | CA1261021003 | ALMS1 | c.10115A= (p.Glu3372=) c.3201A= c.7396A= c.4562A= (p.Glu1521=) c.7441A= c.10496A= (p.Glu3499=) c.650A= (p.Glu217=) c.1852A= c.1593A= c.3987A= (n.3987A=) c.10370A= (p.Glu3457=) n.4299A= c.10499A= (p.Glu3500=) | |
2 | g.73572373A>C | CA347283226 | ALMS1 | c.10115A>C (p.Glu3372Ala) c.3201A>C c.7396A>C c.4562A>C (p.Glu1521Ala) c.7441A>C c.10496A>C (p.Glu3499Ala) c.650A>C (p.Glu217Ala) c.1852A>C c.1593A>C c.3987A>C (n.3987A>C) c.10370A>C (p.Glu3457Ala) n.4299A>C c.10499A>C (p.Glu3500Ala) | |
2 | g.73572373A>G | CA347283229 | ALMS1 | c.10115A>G (p.Glu3372Gly) c.3201A>G c.7396A>G c.4562A>G (p.Glu1521Gly) c.7441A>G c.10496A>G (p.Glu3499Gly) c.650A>G (p.Glu217Gly) c.1852A>G c.1593A>G c.3987A>G (n.3987A>G) c.10370A>G (p.Glu3457Gly) n.4299A>G c.10499A>G (p.Glu3500Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572373A>T | CA50386204 | ALMS1 | c.10115A>T (p.Glu3372Val) c.3201A>T c.7396A>T c.4562A>T (p.Glu1521Val) c.7441A>T c.10496A>T (p.Glu3499Val) c.650A>T (p.Glu217Val) c.1852A>T c.1593A>T c.3987A>T (n.3987A>T) c.10370A>T (p.Glu3457Val) n.4299A>T c.10499A>T (p.Glu3500Val) | dbSNP |
2 | g.73572374A= | CA1261021009 | ALMS1 | c.10116A= (p.Glu3372=) c.3202A= c.7397A= c.4563A= (p.Glu1521=) c.7442A= c.10497A= (p.Glu3499=) c.651A= (p.Glu217=) c.1853A= c.1594A= c.3988A= (n.3988A=) c.10371A= (p.Glu3457=) n.4300A= c.10500A= (p.Glu3500=) | |
2 | g.73572374A>C | CA347283233 | ALMS1 | c.10116A>C (p.Glu3372Asp) c.3202A>C c.7397A>C c.4563A>C (p.Glu1521Asp) c.7442A>C c.10497A>C (p.Glu3499Asp) c.651A>C (p.Glu217Asp) c.1853A>C c.1594A>C c.3988A>C (n.3988A>C) c.10371A>C (p.Glu3457Asp) n.4300A>C c.10500A>C (p.Glu3500Asp) | |
2 | g.73572374A>G | CA427024521 | ALMS1 | c.10116A>G (p.Glu3372=) c.3202A>G c.7397A>G c.4563A>G (p.Glu1521=) c.7442A>G c.10497A>G (p.Glu3499=) c.651A>G (p.Glu217=) c.1853A>G c.1594A>G c.3988A>G (n.3988A>G) c.10371A>G (p.Glu3457=) n.4300A>G c.10500A>G (p.Glu3500=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572374A>T | CA347283235 | ALMS1 | c.10116A>T (p.Glu3372Asp) c.3202A>T c.7397A>T c.4563A>T (p.Glu1521Asp) c.7442A>T c.10497A>T (p.Glu3499Asp) c.651A>T (p.Glu217Asp) c.1853A>T c.1594A>T c.3988A>T (n.3988A>T) c.10371A>T (p.Glu3457Asp) n.4300A>T c.10500A>T (p.Glu3500Asp) | |
2 | g.73572375T>A | CA347283239 | ALMS1 | c.10117T>A (p.Ser3373Thr) c.3203T>A c.7398T>A c.4564T>A (p.Ser1522Thr) c.7443T>A c.10498T>A (p.Ser3500Thr) c.652T>A (p.Ser218Thr) c.1854T>A c.1595T>A c.3989T>A (n.3989T>A) c.10372T>A (p.Ser3458Thr) n.4301T>A c.10501T>A (p.Ser3501Thr) | |
2 | g.73572375T>C | CA347283243 | ALMS1 | c.10117T>C (p.Ser3373Pro) c.3203T>C c.7398T>C c.4564T>C (p.Ser1522Pro) c.7443T>C c.10498T>C (p.Ser3500Pro) c.652T>C (p.Ser218Pro) c.1854T>C c.1595T>C c.3989T>C (n.3989T>C) c.10372T>C (p.Ser3458Pro) n.4301T>C c.10501T>C (p.Ser3501Pro) | |
2 | g.73572375T>G | CA347283241 | ALMS1 | c.10117T>G (p.Ser3373Ala) c.3203T>G c.7398T>G c.4564T>G (p.Ser1522Ala) c.7443T>G c.10498T>G (p.Ser3500Ala) c.652T>G (p.Ser218Ala) c.1854T>G c.1595T>G c.3989T>G (n.3989T>G) c.10372T>G (p.Ser3458Ala) n.4301T>G c.10501T>G (p.Ser3501Ala) | |
2 | g.73572376C>A | CA347283245 | ALMS1 | c.10118C>A (p.Ser3373Tyr) c.3204C>A c.7399C>A c.4565C>A (p.Ser1522Tyr) c.7444C>A c.10499C>A (p.Ser3500Tyr) c.653C>A (p.Ser218Tyr) c.1855C>A c.1596C>A c.3990C>A (n.3990C>A) c.10373C>A (p.Ser3458Tyr) n.4302C>A c.10502C>A (p.Ser3501Tyr) | |
2 | g.73572376C= | CA1261021012 | ALMS1 | c.10118C= (p.Ser3373=) c.3204C= c.7399C= c.4565C= (p.Ser1522=) c.7444C= c.10499C= (p.Ser3500=) c.653C= (p.Ser218=) c.1855C= c.1596C= c.3990C= (n.3990C=) c.10373C= (p.Ser3458=) n.4302C= c.10502C= (p.Ser3501=) | |
2 | g.73572376C>G | CA50386208 | ALMS1 | c.10118C>G (p.Ser3373Cys) c.3204C>G c.7399C>G c.4565C>G (p.Ser1522Cys) c.7444C>G c.10499C>G (p.Ser3500Cys) c.653C>G (p.Ser218Cys) c.1855C>G c.1596C>G c.3990C>G (n.3990C>G) c.10373C>G (p.Ser3458Cys) n.4302C>G c.10502C>G (p.Ser3501Cys) | dbSNP gnomAD v4 |
2 | g.73572376C>T | CA347283248 | ALMS1 | c.10118C>T (p.Ser3373Phe) c.3204C>T c.7399C>T c.4565C>T (p.Ser1522Phe) c.7444C>T c.10499C>T (p.Ser3500Phe) c.653C>T (p.Ser218Phe) c.1855C>T c.1596C>T c.3990C>T (n.3990C>T) c.10373C>T (p.Ser3458Phe) n.4302C>T c.10502C>T (p.Ser3501Phe) | |
2 | g.73572377T>A | CA427024527 | ALMS1 | c.10119T>A (p.Ser3373=) c.3205T>A c.7400T>A c.4566T>A (p.Ser1522=) c.7445T>A c.10500T>A (p.Ser3500=) c.654T>A (p.Ser218=) c.1856T>A c.1597T>A c.3991T>A (n.3991T>A) c.10374T>A (p.Ser3458=) n.4303T>A c.10503T>A (p.Ser3501=) | |
2 | g.73572377T>C | CA427024530 | ALMS1 | c.10119T>C (p.Ser3373=) c.3205T>C c.7400T>C c.4566T>C (p.Ser1522=) c.7445T>C c.10500T>C (p.Ser3500=) c.654T>C (p.Ser218=) c.1856T>C c.1597T>C c.3991T>C (n.3991T>C) c.10374T>C (p.Ser3458=) n.4303T>C c.10503T>C (p.Ser3501=) | |
2 | g.73572377T>G | CA427024528 | ALMS1 | c.10119T>G (p.Ser3373=) c.3205T>G c.7400T>G c.4566T>G (p.Ser1522=) c.7445T>G c.10500T>G (p.Ser3500=) c.654T>G (p.Ser218=) c.1856T>G c.1597T>G c.3991T>G (n.3991T>G) c.10374T>G (p.Ser3458=) n.4303T>G c.10503T>G (p.Ser3501=) | |
2 | g.73572378T>A | CA1715016 | ALMS1 | c.10120T>A (p.Leu3374Met) c.3206T>A c.7401T>A c.4567T>A (p.Leu1523Met) c.7446T>A c.10501T>A (p.Leu3501Met) c.655T>A (p.Leu219Met) c.1857T>A c.1598T>A c.3992T>A (n.3992T>A) c.10375T>A (p.Leu3459Met) n.4304T>A c.10504T>A (p.Leu3502Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572378T>C | CA427024534 | ALMS1 | c.10120T>C (p.Leu3374=) c.3206T>C c.7401T>C c.4567T>C (p.Leu1523=) c.7446T>C c.10501T>C (p.Leu3501=) c.655T>C (p.Leu219=) c.1857T>C c.1598T>C c.3992T>C (n.3992T>C) c.10375T>C (p.Leu3459=) n.4304T>C c.10504T>C (p.Leu3502=) | dbSNP |
2 | g.73572378T>G | CA347283251 | ALMS1 | c.10120T>G (p.Leu3374Val) c.3206T>G c.7401T>G c.4567T>G (p.Leu1523Val) c.7446T>G c.10501T>G (p.Leu3501Val) c.655T>G (p.Leu219Val) c.1857T>G c.1598T>G c.3992T>G (n.3992T>G) c.10375T>G (p.Leu3459Val) n.4304T>G c.10504T>G (p.Leu3502Val) | |
2 | g.73572378T= | CA1261021017 | ALMS1 | c.10120T= (p.Leu3374=) c.3206T= c.7401T= c.4567T= (p.Leu1523=) c.7446T= c.10501T= (p.Leu3501=) c.655T= (p.Leu219=) c.1857T= c.1598T= c.3992T= (n.3992T=) c.10375T= (p.Leu3459=) n.4304T= c.10504T= (p.Leu3502=) | |
2 | g.73572379T>A | CA347283255 | ALMS1 | c.10121T>A (p.Leu3374Ter) c.3207T>A c.7402T>A c.4568T>A (p.Leu1523Ter) c.7447T>A c.10502T>A (p.Leu3501Ter) c.656T>A (p.Leu219Ter) c.1858T>A c.1599T>A c.3993T>A (n.3993T>A) c.10376T>A (p.Leu3459Ter) n.4305T>A c.10505T>A (p.Leu3502Ter) | |
2 | g.73572379T>C | CA347283257 | ALMS1 | c.10121T>C (p.Leu3374Ser) c.3207T>C c.7402T>C c.4568T>C (p.Leu1523Ser) c.7447T>C c.10502T>C (p.Leu3501Ser) c.656T>C (p.Leu219Ser) c.1858T>C c.1599T>C c.3993T>C (n.3993T>C) c.10376T>C (p.Leu3459Ser) n.4305T>C c.10505T>C (p.Leu3502Ser) | |
2 | g.73572379T>G | CA347283259 | ALMS1 | c.10121T>G (p.Leu3374Trp) c.3207T>G c.7402T>G c.4568T>G (p.Leu1523Trp) c.7447T>G c.10502T>G (p.Leu3501Trp) c.656T>G (p.Leu219Trp) c.1858T>G c.1599T>G c.3993T>G (n.3993T>G) c.10376T>G (p.Leu3459Trp) n.4305T>G c.10505T>G (p.Leu3502Trp) | |
2 | g.73572380G>A | CA427024549 | ALMS1 | c.10122G>A (p.Leu3374=) c.3208G>A c.7403G>A c.4569G>A (p.Leu1523=) c.7448G>A c.10503G>A (p.Leu3501=) c.657G>A (p.Leu219=) c.1859G>A c.1600G>A c.3994G>A (n.3994G>A) c.10377G>A (p.Leu3459=) n.4306G>A c.10506G>A (p.Leu3502=) | gnomAD v4 |
2 | g.73572380G>C | CA347283262 | ALMS1 | c.10122G>C (p.Leu3374Phe) c.3208G>C c.7403G>C c.4569G>C (p.Leu1523Phe) c.7448G>C c.10503G>C (p.Leu3501Phe) c.657G>C (p.Leu219Phe) c.1859G>C c.1600G>C c.3994G>C (n.3994G>C) c.10377G>C (p.Leu3459Phe) n.4306G>C c.10506G>C (p.Leu3502Phe) | gnomAD v4 |
2 | g.73572380G>T | CA347283264 | ALMS1 | c.10122G>T (p.Leu3374Phe) c.3208G>T c.7403G>T c.4569G>T (p.Leu1523Phe) c.7448G>T c.10503G>T (p.Leu3501Phe) c.657G>T (p.Leu219Phe) c.1859G>T c.1600G>T c.3994G>T (n.3994G>T) c.10377G>T (p.Leu3459Phe) n.4306G>T c.10506G>T (p.Leu3502Phe) | |
2 | g.73572381G>A | CA347283270 | ALMS1 | c.10123G>A (p.Gly3375Arg) c.3209G>A c.7404G>A c.4570G>A (p.Gly1524Arg) c.7449G>A c.10504G>A (p.Gly3502Arg) c.658G>A (p.Gly220Arg) c.1860G>A c.1601G>A c.3995G>A (n.3995G>A) c.10378G>A (p.Gly3460Arg) n.4307G>A c.10507G>A (p.Gly3503Arg) | |
2 | g.73572381G>C | CA347283268 | ALMS1 | c.10123G>C (p.Gly3375Arg) c.3209G>C c.7404G>C c.4570G>C (p.Gly1524Arg) c.7449G>C c.10504G>C (p.Gly3502Arg) c.658G>C (p.Gly220Arg) c.1860G>C c.1601G>C c.3995G>C (n.3995G>C) c.10378G>C (p.Gly3460Arg) n.4307G>C c.10507G>C (p.Gly3503Arg) | |
2 | g.73572381G>T | CA347283267 | ALMS1 | c.10123G>T (p.Gly3375Ter) c.3209G>T c.7404G>T c.4570G>T (p.Gly1524Ter) c.7449G>T c.10504G>T (p.Gly3502Ter) c.658G>T (p.Gly220Ter) c.1860G>T c.1601G>T c.3995G>T (n.3995G>T) c.10378G>T (p.Gly3460Ter) n.4307G>T c.10507G>T (p.Gly3503Ter) | |
2 | g.73572382G>A | CA347283274 | ALMS1 | c.10124G>A (p.Gly3375Glu) c.3210G>A c.7405G>A c.4571G>A (p.Gly1524Glu) c.7450G>A c.10505G>A (p.Gly3502Glu) c.659G>A (p.Gly220Glu) c.1861G>A c.1602G>A c.3996G>A (n.3996G>A) c.10379G>A (p.Gly3460Glu) n.4308G>A c.10508G>A (p.Gly3503Glu) | gnomAD v4 |
2 | g.73572382G>C | CA347283275 | ALMS1 | c.10124G>C (p.Gly3375Ala) c.3210G>C c.7405G>C c.4571G>C (p.Gly1524Ala) c.7450G>C c.10505G>C (p.Gly3502Ala) c.659G>C (p.Gly220Ala) c.1861G>C c.1602G>C c.3996G>C (n.3996G>C) c.10379G>C (p.Gly3460Ala) n.4308G>C c.10508G>C (p.Gly3503Ala) | |
2 | g.73572382G>T | CA347283278 | ALMS1 | c.10124G>T (p.Gly3375Val) c.3210G>T c.7405G>T c.4571G>T (p.Gly1524Val) c.7450G>T c.10505G>T (p.Gly3502Val) c.659G>T (p.Gly220Val) c.1861G>T c.1602G>T c.3996G>T (n.3996G>T) c.10379G>T (p.Gly3460Val) n.4308G>T c.10508G>T (p.Gly3503Val) | |
2 | g.73572384_73572387del | CA2580068165 | ALMS1 | c.10126_10129del (p.Lys3376ValfsTer4) c.3212_3215del c.7407_7410del c.4573_4576del (p.Lys1525ValfsTer4) c.7452_7455del c.10507_10510del (p.Lys3503ValfsTer4) c.661_664del (p.Lys221ValfsTer4) c.1863_1866del c.1604_1607del c.3998_4001del (n.3998_4001del) c.10381_10384del (p.Lys3461ValfsTer4) n.4310_4313del c.10510_10513del (p.Lys3504ValfsTer4) | ClinVar gnomAD v4 |
2 | g.73572383A= | CA1261021021 | ALMS1 | c.10125A= (p.Gly3375=) c.3211A= c.7406A= c.4572A= (p.Gly1524=) c.7451A= c.10506A= (p.Gly3502=) c.660A= (p.Gly220=) c.1862A= c.1603A= c.3997A= (n.3997A=) c.10380A= (p.Gly3460=) n.4309A= c.10509A= (p.Gly3503=) | |
2 | g.73572383A>C | CA427024558 | ALMS1 | c.10125A>C (p.Gly3375=) c.3211A>C c.7406A>C c.4572A>C (p.Gly1524=) c.7451A>C c.10506A>C (p.Gly3502=) c.660A>C (p.Gly220=) c.1862A>C c.1603A>C c.3997A>C (n.3997A>C) c.10380A>C (p.Gly3460=) n.4309A>C c.10509A>C (p.Gly3503=) | |
2 | g.73572383A>G | CA427024560 | ALMS1 | c.10125A>G (p.Gly3375=) c.3211A>G c.7406A>G c.4572A>G (p.Gly1524=) c.7451A>G c.10506A>G (p.Gly3502=) c.660A>G (p.Gly220=) c.1862A>G c.1603A>G c.3997A>G (n.3997A>G) c.10380A>G (p.Gly3460=) n.4309A>G c.10509A>G (p.Gly3503=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572383A>T | CA427024561 | ALMS1 | c.10125A>T (p.Gly3375=) c.3211A>T c.7406A>T c.4572A>T (p.Gly1524=) c.7451A>T c.10506A>T (p.Gly3502=) c.660A>T (p.Gly220=) c.1862A>T c.1603A>T c.3997A>T (n.3997A>T) c.10380A>T (p.Gly3460=) n.4309A>T c.10509A>T (p.Gly3503=) | |
2 | g.73572384A>C | CA347283281 | ALMS1 | c.10126A>C (p.Lys3376Gln) c.3212A>C c.7407A>C c.4573A>C (p.Lys1525Gln) c.7452A>C c.10507A>C (p.Lys3503Gln) c.661A>C (p.Lys221Gln) c.1863A>C c.1604A>C c.3998A>C (n.3998A>C) c.10381A>C (p.Lys3461Gln) n.4310A>C c.10510A>C (p.Lys3504Gln) | |
2 | g.73572384A>G | CA347283283 | ALMS1 | c.10126A>G (p.Lys3376Glu) c.3212A>G c.7407A>G c.4573A>G (p.Lys1525Glu) c.7452A>G c.10507A>G (p.Lys3503Glu) c.661A>G (p.Lys221Glu) c.1863A>G c.1604A>G c.3998A>G (n.3998A>G) c.10381A>G (p.Lys3461Glu) n.4310A>G c.10510A>G (p.Lys3504Glu) | gnomAD v4 |
2 | g.73572384A>T | CA347283285 | ALMS1 | c.10126A>T (p.Lys3376Ter) c.3212A>T c.7407A>T c.4573A>T (p.Lys1525Ter) c.7452A>T c.10507A>T (p.Lys3503Ter) c.661A>T (p.Lys221Ter) c.1863A>T c.1604A>T c.3998A>T (n.3998A>T) c.10381A>T (p.Lys3461Ter) n.4310A>T c.10510A>T (p.Lys3504Ter) | |
2 | g.73572385A= | CA1261021024 | ALMS1 | c.10127A= (p.Lys3376=) c.3213A= c.7408A= c.4574A= (p.Lys1525=) c.7453A= c.10508A= (p.Lys3503=) c.662A= (p.Lys221=) c.1864A= c.1605A= c.3999A= (n.3999A=) c.10382A= (p.Lys3461=) n.4311A= c.10511A= (p.Lys3504=) | |
2 | g.73572385A>C | CA347283288 | ALMS1 | c.10127A>C (p.Lys3376Thr) c.3213A>C c.7408A>C c.4574A>C (p.Lys1525Thr) c.7453A>C c.10508A>C (p.Lys3503Thr) c.662A>C (p.Lys221Thr) c.1864A>C c.1605A>C c.3999A>C (n.3999A>C) c.10382A>C (p.Lys3461Thr) n.4311A>C c.10511A>C (p.Lys3504Thr) | |
2 | g.73572385A>G | CA50386217 | ALMS1 | c.10127A>G (p.Lys3376Arg) c.3213A>G c.7408A>G c.4574A>G (p.Lys1525Arg) c.7453A>G c.10508A>G (p.Lys3503Arg) c.662A>G (p.Lys221Arg) c.1864A>G c.1605A>G c.3999A>G (n.3999A>G) c.10382A>G (p.Lys3461Arg) n.4311A>G c.10511A>G (p.Lys3504Arg) | dbSNP |
2 | g.73572385A>T | CA347283293 | ALMS1 | c.10127A>T (p.Lys3376Met) c.3213A>T c.7408A>T c.4574A>T (p.Lys1525Met) c.7453A>T c.10508A>T (p.Lys3503Met) c.662A>T (p.Lys221Met) c.1864A>T c.1605A>T c.3999A>T (n.3999A>T) c.10382A>T (p.Lys3461Met) n.4311A>T c.10511A>T (p.Lys3504Met) | |
2 | g.73572386G>A | CA427024572 | ALMS1 | c.10128G>A (p.Lys3376=) c.3214G>A c.7409G>A c.4575G>A (p.Lys1525=) c.7454G>A c.10509G>A (p.Lys3503=) c.663G>A (p.Lys221=) c.1865G>A c.1606G>A c.4000G>A (n.4000G>A) c.10383G>A (p.Lys3461=) n.4312G>A c.10512G>A (p.Lys3504=) | |
2 | g.73572386G>C | CA347283296 | ALMS1 | c.10128G>C (p.Lys3376Asn) c.3214G>C c.7409G>C c.4575G>C (p.Lys1525Asn) c.7454G>C c.10509G>C (p.Lys3503Asn) c.663G>C (p.Lys221Asn) c.1865G>C c.1606G>C c.4000G>C (n.4000G>C) c.10383G>C (p.Lys3461Asn) n.4312G>C c.10512G>C (p.Lys3504Asn) | |
2 | g.73572386G>T | CA347283298 | ALMS1 | c.10128G>T (p.Lys3376Asn) c.3214G>T c.7409G>T c.4575G>T (p.Lys1525Asn) c.7454G>T c.10509G>T (p.Lys3503Asn) c.663G>T (p.Lys221Asn) c.1865G>T c.1606G>T c.4000G>T (n.4000G>T) c.10383G>T (p.Lys3461Asn) n.4312G>T c.10512G>T (p.Lys3504Asn) | |
2 | g.73572387A= | CA1261021028 | ALMS1 | c.10129A= (p.Ser3377=) c.3215A= c.7410A= c.4576A= (p.Ser1526=) c.7455A= c.10510A= (p.Ser3504=) c.664A= (p.Ser222=) c.1866A= c.1607A= c.4001A= (n.4001A=) c.10384A= (p.Ser3462=) n.4313A= c.10513A= (p.Ser3505=) | |
2 | g.73572387A>C | CA347283302 | ALMS1 | c.10129A>C (p.Ser3377Arg) c.3215A>C c.7410A>C c.4576A>C (p.Ser1526Arg) c.7455A>C c.10510A>C (p.Ser3504Arg) c.664A>C (p.Ser222Arg) c.1866A>C c.1607A>C c.4001A>C (n.4001A>C) c.10384A>C (p.Ser3462Arg) n.4313A>C c.10513A>C (p.Ser3505Arg) | |
2 | g.73572387A>G | CA347283304 | ALMS1 | c.10129A>G (p.Ser3377Gly) c.3215A>G c.7410A>G c.4576A>G (p.Ser1526Gly) c.7455A>G c.10510A>G (p.Ser3504Gly) c.664A>G (p.Ser222Gly) c.1866A>G c.1607A>G c.4001A>G (n.4001A>G) c.10384A>G (p.Ser3462Gly) n.4313A>G c.10513A>G (p.Ser3505Gly) | ClinVar dbSNP |
2 | g.73572387A>T | CA50386218 | ALMS1 | c.10129A>T (p.Ser3377Cys) c.3215A>T c.7410A>T c.4576A>T (p.Ser1526Cys) c.7455A>T c.10510A>T (p.Ser3504Cys) c.664A>T (p.Ser222Cys) c.1866A>T c.1607A>T c.4001A>T (n.4001A>T) c.10384A>T (p.Ser3462Cys) n.4313A>T c.10513A>T (p.Ser3505Cys) | dbSNP |
2 | g.73572388G>A | CA347283306 | ALMS1 | c.10130G>A (p.Ser3377Asn) c.3216G>A c.7411G>A c.4577G>A (p.Ser1526Asn) c.7456G>A c.10511G>A (p.Ser3504Asn) c.665G>A (p.Ser222Asn) c.1867G>A c.1608G>A c.4002G>A (n.4002G>A) c.10385G>A (p.Ser3462Asn) n.4314G>A c.10514G>A (p.Ser3505Asn) | ClinVar dbSNP gnomAD v4 |
2 | g.73572388G>C | CA347283309 | ALMS1 | c.10130G>C (p.Ser3377Thr) c.3216G>C c.7411G>C c.4577G>C (p.Ser1526Thr) c.7456G>C c.10511G>C (p.Ser3504Thr) c.665G>C (p.Ser222Thr) c.1867G>C c.1608G>C c.4002G>C (n.4002G>C) c.10385G>C (p.Ser3462Thr) n.4314G>C c.10514G>C (p.Ser3505Thr) | |
2 | g.73572388G= | CA1261021030 | ALMS1 | c.10130G= (p.Ser3377=) c.3216G= c.7411G= c.4577G= (p.Ser1526=) c.7456G= c.10511G= (p.Ser3504=) c.665G= (p.Ser222=) c.1867G= c.1608G= c.4002G= (n.4002G=) c.10385G= (p.Ser3462=) n.4314G= c.10514G= (p.Ser3505=) | |
2 | g.73572388G>T | CA347283311 | ALMS1 | c.10130G>T (p.Ser3377Ile) c.3216G>T c.7411G>T c.4577G>T (p.Ser1526Ile) c.7456G>T c.10511G>T (p.Ser3504Ile) c.665G>T (p.Ser222Ile) c.1867G>T c.1608G>T c.4002G>T (n.4002G>T) c.10385G>T (p.Ser3462Ile) n.4314G>T c.10514G>T (p.Ser3505Ile) | |
2 | g.73572389T>A | CA347283315 | ALMS1 | c.10131T>A (p.Ser3377Arg) c.3217T>A c.7412T>A c.4578T>A (p.Ser1526Arg) c.7457T>A c.10512T>A (p.Ser3504Arg) c.666T>A (p.Ser222Arg) c.1868T>A c.1609T>A c.4003T>A (n.4003T>A) c.10386T>A (p.Ser3462Arg) n.4315T>A c.10515T>A (p.Ser3505Arg) | |
2 | g.73572389T>C | CA427024582 | ALMS1 | c.10131T>C (p.Ser3377=) c.3217T>C c.7412T>C c.4578T>C (p.Ser1526=) c.7457T>C c.10512T>C (p.Ser3504=) c.666T>C (p.Ser222=) c.1868T>C c.1609T>C c.4003T>C (n.4003T>C) c.10386T>C (p.Ser3462=) n.4315T>C c.10515T>C (p.Ser3505=) | |
2 | g.73572389T>G | CA50386219 | ALMS1 | c.10131T>G (p.Ser3377Arg) c.3217T>G c.7412T>G c.4578T>G (p.Ser1526Arg) c.7457T>G c.10512T>G (p.Ser3504Arg) c.666T>G (p.Ser222Arg) c.1868T>G c.1609T>G c.4003T>G (n.4003T>G) c.10386T>G (p.Ser3462Arg) n.4315T>G c.10515T>G (p.Ser3505Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572389T= | CA1261021032 | ALMS1 | c.10131T= (p.Ser3377=) c.3217T= c.7412T= c.4578T= (p.Ser1526=) c.7457T= c.10512T= (p.Ser3504=) c.666T= (p.Ser222=) c.1868T= c.1609T= c.4003T= (n.4003T=) c.10386T= (p.Ser3462=) n.4315T= c.10515T= (p.Ser3505=) | |
2 | g.73572390G>A | CA347283321 | ALMS1 | c.10132G>A (p.Val3378Ile) c.3218G>A c.7413G>A c.4579G>A (p.Val1527Ile) c.7458G>A c.10513G>A (p.Val3505Ile) c.667G>A (p.Val223Ile) c.1869G>A c.1610G>A c.4004G>A (n.4004G>A) c.10387G>A (p.Val3463Ile) n.4316G>A c.10516G>A (p.Val3506Ile) | |
2 | g.73572390G>C | CA347283324 | ALMS1 | c.10132G>C (p.Val3378Leu) c.3218G>C c.7413G>C c.4579G>C (p.Val1527Leu) c.7458G>C c.10513G>C (p.Val3505Leu) c.667G>C (p.Val223Leu) c.1869G>C c.1610G>C c.4004G>C (n.4004G>C) c.10387G>C (p.Val3463Leu) n.4316G>C c.10516G>C (p.Val3506Leu) | |
2 | g.73572390G>T | CA347283326 | ALMS1 | c.10132G>T (p.Val3378Phe) c.3218G>T c.7413G>T c.4579G>T (p.Val1527Phe) c.7458G>T c.10513G>T (p.Val3505Phe) c.667G>T (p.Val223Phe) c.1869G>T c.1610G>T c.4004G>T (n.4004G>T) c.10387G>T (p.Val3463Phe) n.4316G>T c.10516G>T (p.Val3506Phe) | |
2 | g.73572391T>A | CA347283329 | ALMS1 | c.10133T>A (p.Val3378Asp) c.3219T>A c.7414T>A c.4580T>A (p.Val1527Asp) c.7459T>A c.10514T>A (p.Val3505Asp) c.668T>A (p.Val223Asp) c.1870T>A c.1611T>A c.4005T>A (n.4005T>A) c.10388T>A (p.Val3463Asp) n.4317T>A c.10517T>A (p.Val3506Asp) | |
2 | g.73572391T>C | CA347283331 | ALMS1 | c.10133T>C (p.Val3378Ala) c.3219T>C c.7414T>C c.4580T>C (p.Val1527Ala) c.7459T>C c.10514T>C (p.Val3505Ala) c.668T>C (p.Val223Ala) c.1870T>C c.1611T>C c.4005T>C (n.4005T>C) c.10388T>C (p.Val3463Ala) n.4317T>C c.10517T>C (p.Val3506Ala) | |
2 | g.73572391T>G | CA347283333 | ALMS1 | c.10133T>G (p.Val3378Gly) c.3219T>G c.7414T>G c.4580T>G (p.Val1527Gly) c.7459T>G c.10514T>G (p.Val3505Gly) c.668T>G (p.Val223Gly) c.1870T>G c.1611T>G c.4005T>G (n.4005T>G) c.10388T>G (p.Val3463Gly) n.4317T>G c.10517T>G (p.Val3506Gly) | |
2 | g.73572392T>A | CA427024594 | ALMS1 | c.10134T>A (p.Val3378=) c.3220T>A c.7415T>A c.4581T>A (p.Val1527=) c.7460T>A c.10515T>A (p.Val3505=) c.669T>A (p.Val223=) c.1871T>A c.1612T>A c.4006T>A (n.4006T>A) c.10389T>A (p.Val3463=) n.4318T>A c.10518T>A (p.Val3506=) | |
2 | g.73572392T>C | CA427024598 | ALMS1 | c.10134T>C (p.Val3378=) c.3220T>C c.7415T>C c.4581T>C (p.Val1527=) c.7460T>C c.10515T>C (p.Val3505=) c.669T>C (p.Val223=) c.1871T>C c.1612T>C c.4006T>C (n.4006T>C) c.10389T>C (p.Val3463=) n.4318T>C c.10518T>C (p.Val3506=) | |
2 | g.73572392T>G | CA427024600 | ALMS1 | c.10134T>G (p.Val3378=) c.3220T>G c.7415T>G c.4581T>G (p.Val1527=) c.7460T>G c.10515T>G (p.Val3505=) c.669T>G (p.Val223=) c.1871T>G c.1612T>G c.4006T>G (n.4006T>G) c.10389T>G (p.Val3463=) n.4318T>G c.10518T>G (p.Val3506=) | |
2 | g.73572393T>A | CA347283339 | ALMS1 | c.10135T>A (p.Phe3379Ile) c.3221T>A c.7416T>A c.4582T>A (p.Phe1528Ile) c.7461T>A c.10516T>A (p.Phe3506Ile) c.670T>A (p.Phe224Ile) c.1872T>A c.1613T>A c.4007T>A (n.4007T>A) c.10390T>A (p.Phe3464Ile) n.4319T>A c.10519T>A (p.Phe3507Ile) | |
2 | g.73572393T>C | CA347283342 | ALMS1 | c.10135T>C (p.Phe3379Leu) c.3221T>C c.7416T>C c.4582T>C (p.Phe1528Leu) c.7461T>C c.10516T>C (p.Phe3506Leu) c.670T>C (p.Phe224Leu) c.1872T>C c.1613T>C c.4007T>C (n.4007T>C) c.10390T>C (p.Phe3464Leu) n.4319T>C c.10519T>C (p.Phe3507Leu) | |
2 | g.73572393T>G | CA347283337 | ALMS1 | c.10135T>G (p.Phe3379Val) c.3221T>G c.7416T>G c.4582T>G (p.Phe1528Val) c.7461T>G c.10516T>G (p.Phe3506Val) c.670T>G (p.Phe224Val) c.1872T>G c.1613T>G c.4007T>G (n.4007T>G) c.10390T>G (p.Phe3464Val) n.4319T>G c.10519T>G (p.Phe3507Val) | |
2 | g.73572394T>A | CA347283346 | ALMS1 | c.10136T>A (p.Phe3379Tyr) c.3222T>A c.7417T>A c.4583T>A (p.Phe1528Tyr) c.7462T>A c.10517T>A (p.Phe3506Tyr) c.671T>A (p.Phe224Tyr) c.1873T>A c.1614T>A c.4008T>A (n.4008T>A) c.10391T>A (p.Phe3464Tyr) n.4320T>A c.10520T>A (p.Phe3507Tyr) | |
2 | g.73572394T>C | CA347283347 | ALMS1 | c.10136T>C (p.Phe3379Ser) c.3222T>C c.7417T>C c.4583T>C (p.Phe1528Ser) c.7462T>C c.10517T>C (p.Phe3506Ser) c.671T>C (p.Phe224Ser) c.1873T>C c.1614T>C c.4008T>C (n.4008T>C) c.10391T>C (p.Phe3464Ser) n.4320T>C c.10520T>C (p.Phe3507Ser) | |
2 | g.73572394T>G | CA347283348 | ALMS1 | c.10136T>G (p.Phe3379Cys) c.3222T>G c.7417T>G c.4583T>G (p.Phe1528Cys) c.7462T>G c.10517T>G (p.Phe3506Cys) c.671T>G (p.Phe224Cys) c.1873T>G c.1614T>G c.4008T>G (n.4008T>G) c.10391T>G (p.Phe3464Cys) n.4320T>G c.10520T>G (p.Phe3507Cys) | |
2 | g.73572395C>A | CA347283350 | ALMS1 | c.10137C>A (p.Phe3379Leu) c.3223C>A c.7418C>A c.4584C>A (p.Phe1528Leu) c.7463C>A c.10518C>A (p.Phe3506Leu) c.672C>A (p.Phe224Leu) c.1874C>A c.1615C>A c.4009C>A (n.4009C>A) c.10392C>A (p.Phe3464Leu) n.4321C>A c.10521C>A (p.Phe3507Leu) | |
2 | g.73572395C>G | CA347283353 | ALMS1 | c.10137C>G (p.Phe3379Leu) c.3223C>G c.7418C>G c.4584C>G (p.Phe1528Leu) c.7463C>G c.10518C>G (p.Phe3506Leu) c.672C>G (p.Phe224Leu) c.1874C>G c.1615C>G c.4009C>G (n.4009C>G) c.10392C>G (p.Phe3464Leu) n.4321C>G c.10521C>G (p.Phe3507Leu) | |
2 | g.73572395C>T | CA427024607 | ALMS1 | c.10137C>T (p.Phe3379=) c.3223C>T c.7418C>T c.4584C>T (p.Phe1528=) c.7463C>T c.10518C>T (p.Phe3506=) c.672C>T (p.Phe224=) c.1874C>T c.1615C>T c.4009C>T (n.4009C>T) c.10392C>T (p.Phe3464=) n.4321C>T c.10521C>T (p.Phe3507=) | |
2 | g.73572396A= | CA1261021035 | ALMS1 | c.10138A= (p.Met3380=) c.3224A= c.7419A= c.4585A= (p.Met1529=) c.7464A= c.10519A= (p.Met3507=) c.673A= (p.Met225=) c.1875A= c.1616A= c.4010A= (n.4010A=) c.10393A= (p.Met3465=) n.4322A= c.10522A= (p.Met3508=) | |
2 | g.73572396A>C | CA347283360 | ALMS1 | c.10138A>C (p.Met3380Leu) c.3224A>C c.7419A>C c.4585A>C (p.Met1529Leu) c.7464A>C c.10519A>C (p.Met3507Leu) c.673A>C (p.Met225Leu) c.1875A>C c.1616A>C c.4010A>C (n.4010A>C) c.10393A>C (p.Met3465Leu) n.4322A>C c.10522A>C (p.Met3508Leu) | gnomAD v4 |
2 | g.73572396A>G | CA347283356 | ALMS1 | c.10138A>G (p.Met3380Val) c.3224A>G c.7419A>G c.4585A>G (p.Met1529Val) c.7464A>G c.10519A>G (p.Met3507Val) c.673A>G (p.Met225Val) c.1875A>G c.1616A>G c.4010A>G (n.4010A>G) c.10393A>G (p.Met3465Val) n.4322A>G c.10522A>G (p.Met3508Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572396A>T | CA347283358 | ALMS1 | c.10138A>T (p.Met3380Leu) c.3224A>T c.7419A>T c.4585A>T (p.Met1529Leu) c.7464A>T c.10519A>T (p.Met3507Leu) c.673A>T (p.Met225Leu) c.1875A>T c.1616A>T c.4010A>T (n.4010A>T) c.10393A>T (p.Met3465Leu) n.4322A>T c.10522A>T (p.Met3508Leu) | gnomAD v4 |
2 | g.73572397T>A | CA347283364 | ALMS1 | c.10139T>A (p.Met3380Lys) c.3225T>A c.7420T>A c.4586T>A (p.Met1529Lys) c.7465T>A c.10520T>A (p.Met3507Lys) c.674T>A (p.Met225Lys) c.1876T>A c.1617T>A c.4011T>A (n.4011T>A) c.10394T>A (p.Met3465Lys) n.4323T>A c.10523T>A (p.Met3508Lys) | |
2 | g.73572397T>C | CA347283365 | ALMS1 | c.10139T>C (p.Met3380Thr) c.3225T>C c.7420T>C c.4586T>C (p.Met1529Thr) c.7465T>C c.10520T>C (p.Met3507Thr) c.674T>C (p.Met225Thr) c.1876T>C c.1617T>C c.4011T>C (n.4011T>C) c.10394T>C (p.Met3465Thr) n.4323T>C c.10523T>C (p.Met3508Thr) | |
2 | g.73572397T>G | CA347283367 | ALMS1 | c.10139T>G (p.Met3380Arg) c.3225T>G c.7420T>G c.4586T>G (p.Met1529Arg) c.7465T>G c.10520T>G (p.Met3507Arg) c.674T>G (p.Met225Arg) c.1876T>G c.1617T>G c.4011T>G (n.4011T>G) c.10394T>G (p.Met3465Arg) n.4323T>G c.10523T>G (p.Met3508Arg) | |
2 | g.73572398G>A | CA347283371 | ALMS1 | c.10140G>A (p.Met3380Ile) c.3226G>A c.7421G>A c.4587G>A (p.Met1529Ile) c.7466G>A c.10521G>A (p.Met3507Ile) c.675G>A (p.Met225Ile) c.1877G>A c.1618G>A c.4012G>A (n.4012G>A) c.10395G>A (p.Met3465Ile) n.4324G>A c.10524G>A (p.Met3508Ile) | |
2 | g.73572398G>C | CA347283373 | ALMS1 | c.10140G>C (p.Met3380Ile) c.3226G>C c.7421G>C c.4587G>C (p.Met1529Ile) c.7466G>C c.10521G>C (p.Met3507Ile) c.675G>C (p.Met225Ile) c.1877G>C c.1618G>C c.4012G>C (n.4012G>C) c.10395G>C (p.Met3465Ile) n.4324G>C c.10524G>C (p.Met3508Ile) | |
2 | g.73572398G>T | CA347283375 | ALMS1 | c.10140G>T (p.Met3380Ile) c.3226G>T c.7421G>T c.4587G>T (p.Met1529Ile) c.7466G>T c.10521G>T (p.Met3507Ile) c.675G>T (p.Met225Ile) c.1877G>T c.1618G>T c.4012G>T (n.4012G>T) c.10395G>T (p.Met3465Ile) n.4324G>T c.10524G>T (p.Met3508Ile) | |
2 | g.73572399A= | CA1261021039 | ALMS1 | c.10141A= (p.Arg3381=) c.3227A= c.7422A= c.4588A= (p.Arg1530=) c.7467A= c.10522A= (p.Arg3508=) c.676A= (p.Arg226=) c.1878A= c.1619A= c.4013A= (n.4013A=) c.10396A= (p.Arg3466=) n.4325A= c.10525A= (p.Arg3509=) | |
2 | g.73572399A>C | CA427024612 | ALMS1 | c.10141A>C (p.Arg3381=) c.3227A>C c.7422A>C c.4588A>C (p.Arg1530=) c.7467A>C c.10522A>C (p.Arg3508=) c.676A>C (p.Arg226=) c.1878A>C c.1619A>C c.4013A>C (n.4013A>C) c.10396A>C (p.Arg3466=) n.4325A>C c.10525A>C (p.Arg3509=) | |
2 | g.73572399A>G | CA347283381 | ALMS1 | c.10141A>G (p.Arg3381Gly) c.3227A>G c.7422A>G c.4588A>G (p.Arg1530Gly) c.7467A>G c.10522A>G (p.Arg3508Gly) c.676A>G (p.Arg226Gly) c.1878A>G c.1619A>G c.4013A>G (n.4013A>G) c.10396A>G (p.Arg3466Gly) n.4325A>G c.10525A>G (p.Arg3509Gly) | dbSNP gnomAD v2 |
2 | g.73572399A>T | CA347283379 | ALMS1 | c.10141A>T (p.Arg3381Ter) c.3227A>T c.7422A>T c.4588A>T (p.Arg1530Ter) c.7467A>T c.10522A>T (p.Arg3508Ter) c.676A>T (p.Arg226Ter) c.1878A>T c.1619A>T c.4013A>T (n.4013A>T) c.10396A>T (p.Arg3466Ter) n.4325A>T c.10525A>T (p.Arg3509Ter) | |
2 | g.73572400G>A | CA347283384 | ALMS1 | c.10142G>A (p.Arg3381Lys) c.3228G>A c.7423G>A c.4589G>A (p.Arg1530Lys) c.7468G>A c.10523G>A (p.Arg3508Lys) c.677G>A (p.Arg226Lys) c.1879G>A c.1620G>A c.4014G>A (n.4014G>A) c.10397G>A (p.Arg3466Lys) n.4326G>A c.10526G>A (p.Arg3509Lys) | |
2 | g.73572400G>C | CA347283388 | ALMS1 | c.10142G>C (p.Arg3381Thr) c.3228G>C c.7423G>C c.4589G>C (p.Arg1530Thr) c.7468G>C c.10523G>C (p.Arg3508Thr) c.677G>C (p.Arg226Thr) c.1879G>C c.1620G>C c.4014G>C (n.4014G>C) c.10397G>C (p.Arg3466Thr) n.4326G>C c.10526G>C (p.Arg3509Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572400G= | CA1261021043 | ALMS1 | c.10142G= (p.Arg3381=) c.3228G= c.7423G= c.4589G= (p.Arg1530=) c.7468G= c.10523G= (p.Arg3508=) c.677G= (p.Arg226=) c.1879G= c.1620G= c.4014G= (n.4014G=) c.10397G= (p.Arg3466=) n.4326G= c.10526G= (p.Arg3509=) | |
2 | g.73572400G>T | CA347283385 | ALMS1 | c.10142G>T (p.Arg3381Ile) c.3228G>T c.7423G>T c.4589G>T (p.Arg1530Ile) c.7468G>T c.10523G>T (p.Arg3508Ile) c.677G>T (p.Arg226Ile) c.1879G>T c.1620G>T c.4014G>T (n.4014G>T) c.10397G>T (p.Arg3466Ile) n.4326G>T c.10526G>T (p.Arg3509Ile) | |
2 | g.73572401A>C | CA347283392 | ALMS1 | c.10143A>C (p.Arg3381Ser) c.3229A>C c.7424A>C c.4590A>C (p.Arg1530Ser) c.7469A>C c.10524A>C (p.Arg3508Ser) c.678A>C (p.Arg226Ser) c.1880A>C c.1621A>C c.4015A>C (n.4015A>C) c.10398A>C (p.Arg3466Ser) n.4327A>C c.10527A>C (p.Arg3509Ser) | |
2 | g.73572401A>G | CA427024617 | ALMS1 | c.10143A>G (p.Arg3381=) c.3229A>G c.7424A>G c.4590A>G (p.Arg1530=) c.7469A>G c.10524A>G (p.Arg3508=) c.678A>G (p.Arg226=) c.1880A>G c.1621A>G c.4015A>G (n.4015A>G) c.10398A>G (p.Arg3466=) n.4327A>G c.10527A>G (p.Arg3509=) | |
2 | g.73572401A>T | CA347283394 | ALMS1 | c.10143A>T (p.Arg3381Ser) c.3229A>T c.7424A>T c.4590A>T (p.Arg1530Ser) c.7469A>T c.10524A>T (p.Arg3508Ser) c.678A>T (p.Arg226Ser) c.1880A>T c.1621A>T c.4015A>T (n.4015A>T) c.10398A>T (p.Arg3466Ser) n.4327A>T c.10527A>T (p.Arg3509Ser) | |
2 | g.73572402C>A | CA347283398 | ALMS1 | c.10144C>A (p.His3382Asn) c.3230C>A c.7425C>A c.4591C>A (p.His1531Asn) c.7470C>A c.10525C>A (p.His3509Asn) c.679C>A (p.His227Asn) c.1881C>A c.1622C>A c.4016C>A (n.4016C>A) c.10399C>A (p.His3467Asn) n.4328C>A c.10528C>A (p.His3510Asn) | |
2 | g.73572402C>G | CA347283401 | ALMS1 | c.10144C>G (p.His3382Asp) c.3230C>G c.7425C>G c.4591C>G (p.His1531Asp) c.7470C>G c.10525C>G (p.His3509Asp) c.679C>G (p.His227Asp) c.1881C>G c.1622C>G c.4016C>G (n.4016C>G) c.10399C>G (p.His3467Asp) n.4328C>G c.10528C>G (p.His3510Asp) | |
2 | g.73572402C>T | CA347283403 | ALMS1 | c.10144C>T (p.His3382Tyr) c.3230C>T c.7425C>T c.4591C>T (p.His1531Tyr) c.7470C>T c.10525C>T (p.His3509Tyr) c.679C>T (p.His227Tyr) c.1881C>T c.1622C>T c.4016C>T (n.4016C>T) c.10399C>T (p.His3467Tyr) n.4328C>T c.10528C>T (p.His3510Tyr) | |
2 | g.73572403A= | CA1261021048 | ALMS1 | c.10145A= (p.His3382=) c.3231A= c.7426A= c.4592A= (p.His1531=) c.7471A= c.10526A= (p.His3509=) c.680A= (p.His227=) c.1882A= c.1623A= c.4017A= (n.4017A=) c.10400A= (p.His3467=) n.4329A= c.10529A= (p.His3510=) | |
2 | g.73572403A>C | CA347283407 | ALMS1 | c.10145A>C (p.His3382Pro) c.3231A>C c.7426A>C c.4592A>C (p.His1531Pro) c.7471A>C c.10526A>C (p.His3509Pro) c.680A>C (p.His227Pro) c.1882A>C c.1623A>C c.4017A>C (n.4017A>C) c.10400A>C (p.His3467Pro) n.4329A>C c.10529A>C (p.His3510Pro) | |
2 | g.73572403A>G | CA347283409 | ALMS1 | c.10145A>G (p.His3382Arg) c.3231A>G c.7426A>G c.4592A>G (p.His1531Arg) c.7471A>G c.10526A>G (p.His3509Arg) c.680A>G (p.His227Arg) c.1882A>G c.1623A>G c.4017A>G (n.4017A>G) c.10400A>G (p.His3467Arg) n.4329A>G c.10529A>G (p.His3510Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572403A>T | CA347283412 | ALMS1 | c.10145A>T (p.His3382Leu) c.3231A>T c.7426A>T c.4592A>T (p.His1531Leu) c.7471A>T c.10526A>T (p.His3509Leu) c.680A>T (p.His227Leu) c.1882A>T c.1623A>T c.4017A>T (n.4017A>T) c.10400A>T (p.His3467Leu) n.4329A>T c.10529A>T (p.His3510Leu) | |
2 | g.73572404T>A | CA347283415 | ALMS1 | c.10146T>A (p.His3382Gln) c.3232T>A c.7427T>A c.4593T>A (p.His1531Gln) c.7472T>A c.10527T>A (p.His3509Gln) c.681T>A (p.His227Gln) c.1883T>A c.1624T>A c.4018T>A (n.4018T>A) c.10401T>A (p.His3467Gln) n.4330T>A c.10530T>A (p.His3510Gln) | |
2 | g.73572404T>C | CA427024628 | ALMS1 | c.10146T>C (p.His3382=) c.3232T>C c.7427T>C c.4593T>C (p.His1531=) c.7472T>C c.10527T>C (p.His3509=) c.681T>C (p.His227=) c.1883T>C c.1624T>C c.4018T>C (n.4018T>C) c.10401T>C (p.His3467=) n.4330T>C c.10530T>C (p.His3510=) | gnomAD v4 |
2 | g.73572404T>G | CA347283417 | ALMS1 | c.10146T>G (p.His3382Gln) c.3232T>G c.7427T>G c.4593T>G (p.His1531Gln) c.7472T>G c.10527T>G (p.His3509Gln) c.681T>G (p.His227Gln) c.1883T>G c.1624T>G c.4018T>G (n.4018T>G) c.10401T>G (p.His3467Gln) n.4330T>G c.10530T>G (p.His3510Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572404T= | CA1261021058 | ALMS1 | c.10146T= (p.His3382=) c.3232T= c.7427T= c.4593T= (p.His1531=) c.7472T= c.10527T= (p.His3509=) c.681T= (p.His227=) c.1883T= c.1624T= c.4018T= (n.4018T=) c.10401T= (p.His3467=) n.4330T= c.10530T= (p.His3510=) | |
2 | g.73572405dup | CA892825667 | ALMS1 | c.10147dup (p.Ser3383PhefsTer14) c.3233dup c.7428dup c.4594dup (p.Ser1532PhefsTer14) c.7473dup c.10528dup (p.Ser3510PhefsTer14) c.682dup (p.Ser228PhefsTer14) c.1884dup c.1625dup c.4019dup (n.4019dup) c.10402dup (p.Ser3468PhefsTer14) n.4331dup c.10531dup (p.Ser3511PhefsTer14) | dbSNP |
2 | g.73572405T>A | CA347283424 | ALMS1 | c.10147T>A (p.Ser3383Thr) c.3233T>A c.7428T>A c.4594T>A (p.Ser1532Thr) c.7473T>A c.10528T>A (p.Ser3510Thr) c.682T>A (p.Ser228Thr) c.1884T>A c.1625T>A c.4019T>A (n.4019T>A) c.10402T>A (p.Ser3468Thr) n.4331T>A c.10531T>A (p.Ser3511Thr) | |
2 | g.73572405T>C | CA347283422 | ALMS1 | c.10147T>C (p.Ser3383Pro) c.3233T>C c.7428T>C c.4594T>C (p.Ser1532Pro) c.7473T>C c.10528T>C (p.Ser3510Pro) c.682T>C (p.Ser228Pro) c.1884T>C c.1625T>C c.4019T>C (n.4019T>C) c.10402T>C (p.Ser3468Pro) n.4331T>C c.10531T>C (p.Ser3511Pro) | |
2 | g.73572405T>G | CA347283420 | ALMS1 | c.10147T>G (p.Ser3383Ala) c.3233T>G c.7428T>G c.4594T>G (p.Ser1532Ala) c.7473T>G c.10528T>G (p.Ser3510Ala) c.682T>G (p.Ser228Ala) c.1884T>G c.1625T>G c.4019T>G (n.4019T>G) c.10402T>G (p.Ser3468Ala) n.4331T>G c.10531T>G (p.Ser3511Ala) | |
2 | g.73572406C>A | CA347283426 | ALMS1 | c.10148C>A (p.Ser3383Tyr) c.3234C>A c.7429C>A c.4595C>A (p.Ser1532Tyr) c.7474C>A c.10529C>A (p.Ser3510Tyr) c.683C>A (p.Ser228Tyr) c.1885C>A c.1626C>A c.4020C>A (n.4020C>A) c.10403C>A (p.Ser3468Tyr) n.4332C>A c.10532C>A (p.Ser3511Tyr) | |
2 | g.73572406C= | CA1261021065 | ALMS1 | c.10148C= (p.Ser3383=) c.3234C= c.7429C= c.4595C= (p.Ser1532=) c.7474C= c.10529C= (p.Ser3510=) c.683C= (p.Ser228=) c.1885C= c.1626C= c.4020C= (n.4020C=) c.10403C= (p.Ser3468=) n.4332C= c.10532C= (p.Ser3511=) | |
2 | g.73572406C>G | CA347283428 | ALMS1 | c.10148C>G (p.Ser3383Cys) c.3234C>G c.7429C>G c.4595C>G (p.Ser1532Cys) c.7474C>G c.10529C>G (p.Ser3510Cys) c.683C>G (p.Ser228Cys) c.1885C>G c.1626C>G c.4020C>G (n.4020C>G) c.10403C>G (p.Ser3468Cys) n.4332C>G c.10532C>G (p.Ser3511Cys) | |
2 | g.73572406C>T | CA347283430 | ALMS1 | c.10148C>T (p.Ser3383Phe) c.3234C>T c.7429C>T c.4595C>T (p.Ser1532Phe) c.7474C>T c.10529C>T (p.Ser3510Phe) c.683C>T (p.Ser228Phe) c.1885C>T c.1626C>T c.4020C>T (n.4020C>T) c.10403C>T (p.Ser3468Phe) n.4332C>T c.10532C>T (p.Ser3511Phe) | |
2 | g.73572407T>A | CA427024640 | ALMS1 | c.10149T>A (p.Ser3383=) c.3235T>A c.7430T>A c.4596T>A (p.Ser1532=) c.7475T>A c.10530T>A (p.Ser3510=) c.684T>A (p.Ser228=) c.1886T>A c.1627T>A c.4021T>A (n.4021T>A) c.10404T>A (p.Ser3468=) n.4333T>A c.10533T>A (p.Ser3511=) | |
2 | g.73572407T>C | CA427024636 | ALMS1 | c.10149T>C (p.Ser3383=) c.3235T>C c.7430T>C c.4596T>C (p.Ser1532=) c.7475T>C c.10530T>C (p.Ser3510=) c.684T>C (p.Ser228=) c.1886T>C c.1627T>C c.4021T>C (n.4021T>C) c.10404T>C (p.Ser3468=) n.4333T>C c.10533T>C (p.Ser3511=) | |
2 | g.73572407T>G | CA427024635 | ALMS1 | c.10149T>G (p.Ser3383=) c.3235T>G c.7430T>G c.4596T>G (p.Ser1532=) c.7475T>G c.10530T>G (p.Ser3510=) c.684T>G (p.Ser228=) c.1886T>G c.1627T>G c.4021T>G (n.4021T>G) c.10404T>G (p.Ser3468=) n.4333T>G c.10533T>G (p.Ser3511=) | |
2 | g.73572407T= | CA1261021073 | ALMS1 | c.10149T= (p.Ser3383=) c.3235T= c.7430T= c.4596T= (p.Ser1532=) c.7475T= c.10530T= (p.Ser3510=) c.684T= (p.Ser228=) c.1886T= c.1627T= c.4021T= (n.4021T=) c.10404T= (p.Ser3468=) n.4333T= c.10533T= (p.Ser3511=) | |
2 | g.73572407_73572408insGGAATGTCTTTCCAAGATT | CA2573135801 | ALMS1 | c.10149_10150insGGAATGTCTTTCCAAGATT (p.Trp3384GlyfsTer19) c.3235_3236insGGAATGTCTTTCCAAGATT c.7430_7431insGGAATGTCTTTCCAAGATT c.4596_4597insGGAATGTCTTTCCAAGATT (p.Trp1533GlyfsTer19) c.7475_7476insGGAATGTCTTTCCAAGATT c.10530_10531insGGAATGTCTTTCCAAGATT (p.Trp3511GlyfsTer19) c.684_685insGGAATGTCTTTCCAAGATT (p.Trp229GlyfsTer19) c.1886_1887insGGAATGTCTTTCCAAGATT c.1627_1628insGGAATGTCTTTCCAAGATT c.4021_4022insGGAATGTCTTTCCAAGATT (n.4021_4022insGGAATGTCTTTCCAAGATT) c.10404_10405insGGAATGTCTTTCCAAGATT (p.Trp3469GlyfsTer19) n.4333_4334insGGAATGTCTTTCCAAGATT c.10533_10534insGGAATGTCTTTCCAAGATT (p.Trp3512GlyfsTer19) | ClinVar dbSNP |
2 | g.73572407_73572408insGTCTTTCCAAGATTGGAAT | CA2695200831 | ALMS1 | c.10149_10150insGTCTTTCCAAGATTGGAAT (p.Trp3384ValfsTer19) c.3235_3236insGTCTTTCCAAGATTGGAAT c.7430_7431insGTCTTTCCAAGATTGGAAT c.4596_4597insGTCTTTCCAAGATTGGAAT (p.Trp1533ValfsTer19) c.7475_7476insGTCTTTCCAAGATTGGAAT c.10530_10531insGTCTTTCCAAGATTGGAAT (p.Trp3511ValfsTer19) c.684_685insGTCTTTCCAAGATTGGAAT (p.Trp229ValfsTer19) c.1886_1887insGTCTTTCCAAGATTGGAAT c.1627_1628insGTCTTTCCAAGATTGGAAT c.4021_4022insGTCTTTCCAAGATTGGAAT (n.4021_4022insGTCTTTCCAAGATTGGAAT) c.10404_10405insGTCTTTCCAAGATTGGAAT (p.Trp3469ValfsTer19) n.4333_4334insGTCTTTCCAAGATTGGAAT c.10533_10534insGTCTTTCCAAGATTGGAAT (p.Trp3512ValfsTer19) | ClinVar |
2 | g.73572412_73572413insTGTCTTTCCAAGATTGGAA | CA534124637 | ALMS1 | c.10154_10155insTGTCTTTCCAAGATTGGAA (p.Lys3385AsnfsTer18) c.3240_3241insTGTCTTTCCAAGATTGGAA c.7435_7436insTGTCTTTCCAAGATTGGAA c.4601_4602insTGTCTTTCCAAGATTGGAA (p.Lys1534AsnfsTer18) c.7480_7481insTGTCTTTCCAAGATTGGAA c.10535_10536insTGTCTTTCCAAGATTGGAA (p.Lys3512AsnfsTer18) c.689_690insTGTCTTTCCAAGATTGGAA (p.Lys230AsnfsTer18) c.1891_1892insTGTCTTTCCAAGATTGGAA c.1632_1633insTGTCTTTCCAAGATTGGAA c.4026_4027insTGTCTTTCCAAGATTGGAA (n.4026_4027insTGTCTTTCCAAGATTGGAA) c.10409_10410insTGTCTTTCCAAGATTGGAA (p.Lys3470AsnfsTer18) n.4338_4339insTGTCTTTCCAAGATTGGAA c.10538_10539insTGTCTTTCCAAGATTGGAA (p.Lys3513AsnfsTer18) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572407_73572408insC | CA1261021091 | ALMS1 | c.10149_10150insC (p.Trp3384LeufsTer13) c.3235_3236insC c.7430_7431insC c.4596_4597insC (p.Trp1533LeufsTer13) c.7475_7476insC c.10530_10531insC (p.Trp3511LeufsTer13) c.684_685insC (p.Trp229LeufsTer13) c.1886_1887insC c.1627_1628insC c.4021_4022insC (n.4021_4022insC) c.10404_10405insC (p.Trp3469LeufsTer13) n.4333_4334insC c.10533_10534insC (p.Trp3512LeufsTer13) | dbSNP |
2 | g.73572408T>A | CA347283434 | ALMS1 | c.10150T>A (p.Trp3384Arg) c.3236T>A c.7431T>A c.4597T>A (p.Trp1533Arg) c.7476T>A c.10531T>A (p.Trp3511Arg) c.685T>A (p.Trp229Arg) c.1887T>A c.1628T>A c.4022T>A (n.4022T>A) c.10405T>A (p.Trp3469Arg) n.4334T>A c.10534T>A (p.Trp3512Arg) | |
2 | g.73572408T>C | CA347283436 | ALMS1 | c.10150T>C (p.Trp3384Arg) c.3236T>C c.7431T>C c.4597T>C (p.Trp1533Arg) c.7476T>C c.10531T>C (p.Trp3511Arg) c.685T>C (p.Trp229Arg) c.1887T>C c.1628T>C c.4022T>C (n.4022T>C) c.10405T>C (p.Trp3469Arg) n.4334T>C c.10534T>C (p.Trp3512Arg) | |
2 | g.73572408T>G | CA347283438 | ALMS1 | c.10150T>G (p.Trp3384Gly) c.3236T>G c.7431T>G c.4597T>G (p.Trp1533Gly) c.7476T>G c.10531T>G (p.Trp3511Gly) c.685T>G (p.Trp229Gly) c.1887T>G c.1628T>G c.4022T>G (n.4022T>G) c.10405T>G (p.Trp3469Gly) n.4334T>G c.10534T>G (p.Trp3512Gly) | |
2 | g.73572409G>A | CA347283439 | ALMS1 | c.10151G>A (p.Trp3384Ter) c.3237G>A c.7432G>A c.4598G>A (p.Trp1533Ter) c.7477G>A c.10532G>A (p.Trp3511Ter) c.686G>A (p.Trp229Ter) c.1888G>A c.1629G>A c.4023G>A (n.4023G>A) c.10406G>A (p.Trp3469Ter) n.4335G>A c.10535G>A (p.Trp3512Ter) | dbSNP gnomAD v4 |
2 | g.73572409G>C | CA347283441 | ALMS1 | c.10151G>C (p.Trp3384Ser) c.3237G>C c.7432G>C c.4598G>C (p.Trp1533Ser) c.7477G>C c.10532G>C (p.Trp3511Ser) c.686G>C (p.Trp229Ser) c.1888G>C c.1629G>C c.4023G>C (n.4023G>C) c.10406G>C (p.Trp3469Ser) n.4335G>C c.10535G>C (p.Trp3512Ser) | |
2 | g.73572409G>T | CA347283442 | ALMS1 | c.10151G>T (p.Trp3384Leu) c.3237G>T c.7432G>T c.4598G>T (p.Trp1533Leu) c.7477G>T c.10532G>T (p.Trp3511Leu) c.686G>T (p.Trp229Leu) c.1888G>T c.1629G>T c.4023G>T (n.4023G>T) c.10406G>T (p.Trp3469Leu) n.4335G>T c.10535G>T (p.Trp3512Leu) | |
2 | g.73572410G>A | CA347283444 | ALMS1 | c.10152G>A (p.Trp3384Ter) c.3238G>A c.7433G>A c.4599G>A (p.Trp1533Ter) c.7478G>A c.10533G>A (p.Trp3511Ter) c.687G>A (p.Trp229Ter) c.1889G>A c.1630G>A c.4024G>A (n.4024G>A) c.10407G>A (p.Trp3469Ter) n.4336G>A c.10536G>A (p.Trp3512Ter) | |
2 | g.73572410G>C | CA347283446 | ALMS1 | c.10152G>C (p.Trp3384Cys) c.3238G>C c.7433G>C c.4599G>C (p.Trp1533Cys) c.7478G>C c.10533G>C (p.Trp3511Cys) c.687G>C (p.Trp229Cys) c.1889G>C c.1630G>C c.4024G>C (n.4024G>C) c.10407G>C (p.Trp3469Cys) n.4336G>C c.10536G>C (p.Trp3512Cys) | |
2 | g.73572410G= | CA1261021098 | ALMS1 | c.10152G= (p.Trp3384=) c.3238G= c.7433G= c.4599G= (p.Trp1533=) c.7478G= c.10533G= (p.Trp3511=) c.687G= (p.Trp229=) c.1889G= c.1630G= c.4024G= (n.4024G=) c.10407G= (p.Trp3469=) n.4336G= c.10536G= (p.Trp3512=) | |
2 | g.73572410G>T | CA1715017 | ALMS1 | c.10152G>T (p.Trp3384Cys) c.3238G>T c.7433G>T c.4599G>T (p.Trp1533Cys) c.7478G>T c.10533G>T (p.Trp3511Cys) c.687G>T (p.Trp229Cys) c.1889G>T c.1630G>T c.4024G>T (n.4024G>T) c.10407G>T (p.Trp3469Cys) n.4336G>T c.10536G>T (p.Trp3512Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572411A>C | CA347283453 | ALMS1 | c.10153A>C (p.Lys3385Gln) c.3239A>C c.7434A>C c.4600A>C (p.Lys1534Gln) c.7479A>C c.10534A>C (p.Lys3512Gln) c.688A>C (p.Lys230Gln) c.1890A>C c.1631A>C c.4025A>C (n.4025A>C) c.10408A>C (p.Lys3470Gln) n.4337A>C c.10537A>C (p.Lys3513Gln) | |
2 | g.73572411A>G | CA347283455 | ALMS1 | c.10153A>G (p.Lys3385Glu) c.3239A>G c.7434A>G c.4600A>G (p.Lys1534Glu) c.7479A>G c.10534A>G (p.Lys3512Glu) c.688A>G (p.Lys230Glu) c.1890A>G c.1631A>G c.4025A>G (n.4025A>G) c.10408A>G (p.Lys3470Glu) n.4337A>G c.10537A>G (p.Lys3513Glu) | ClinVar gnomAD v4 |
2 | g.73572411A>T | CA347283451 | ALMS1 | c.10153A>T (p.Lys3385Ter) c.3239A>T c.7434A>T c.4600A>T (p.Lys1534Ter) c.7479A>T c.10534A>T (p.Lys3512Ter) c.688A>T (p.Lys230Ter) c.1890A>T c.1631A>T c.4025A>T (n.4025A>T) c.10408A>T (p.Lys3470Ter) n.4337A>T c.10537A>T (p.Lys3513Ter) | |
2 | g.73572412A>C | CA347283458 | ALMS1 | c.10154A>C (p.Lys3385Thr) c.3240A>C c.7435A>C c.4601A>C (p.Lys1534Thr) c.7480A>C c.10535A>C (p.Lys3512Thr) c.689A>C (p.Lys230Thr) c.1891A>C c.1632A>C c.4026A>C (n.4026A>C) c.10409A>C (p.Lys3470Thr) n.4338A>C c.10538A>C (p.Lys3513Thr) | |
2 | g.73572412A>G | CA347283460 | ALMS1 | c.10154A>G (p.Lys3385Arg) c.3240A>G c.7435A>G c.4601A>G (p.Lys1534Arg) c.7480A>G c.10535A>G (p.Lys3512Arg) c.689A>G (p.Lys230Arg) c.1891A>G c.1632A>G c.4026A>G (n.4026A>G) c.10409A>G (p.Lys3470Arg) n.4338A>G c.10538A>G (p.Lys3513Arg) | |
2 | g.73572412A>T | CA347283462 | ALMS1 | c.10154A>T (p.Lys3385Ile) c.3240A>T c.7435A>T c.4601A>T (p.Lys1534Ile) c.7480A>T c.10535A>T (p.Lys3512Ile) c.689A>T (p.Lys230Ile) c.1891A>T c.1632A>T c.4026A>T (n.4026A>T) c.10409A>T (p.Lys3470Ile) n.4338A>T c.10538A>T (p.Lys3513Ile) | |
2 | g.73572413A>C | CA347283465 | ALMS1 | c.10155A>C (p.Lys3385Asn) c.3241A>C c.7436A>C c.4602A>C (p.Lys1534Asn) c.7481A>C c.10536A>C (p.Lys3512Asn) c.690A>C (p.Lys230Asn) c.1892A>C c.1633A>C c.4027A>C (n.4027A>C) c.10410A>C (p.Lys3470Asn) n.4339A>C c.10539A>C (p.Lys3513Asn) | |
2 | g.73572413A>G | CA427024649 | ALMS1 | c.10155A>G (p.Lys3385=) c.3241A>G c.7436A>G c.4602A>G (p.Lys1534=) c.7481A>G c.10536A>G (p.Lys3512=) c.690A>G (p.Lys230=) c.1892A>G c.1633A>G c.4027A>G (n.4027A>G) c.10410A>G (p.Lys3470=) n.4339A>G c.10539A>G (p.Lys3513=) | |
2 | g.73572413A>T | CA347283466 | ALMS1 | c.10155A>T (p.Lys3385Asn) c.3241A>T c.7436A>T c.4602A>T (p.Lys1534Asn) c.7481A>T c.10536A>T (p.Lys3512Asn) c.690A>T (p.Lys230Asn) c.1892A>T c.1633A>T c.4027A>T (n.4027A>T) c.10410A>T (p.Lys3470Asn) n.4339A>T c.10539A>T (p.Lys3513Asn) | |
2 | g.73572414G>A | CA347283469 | ALMS1 | c.10156G>A (p.Asp3386Asn) c.3242G>A c.7437G>A c.4603G>A (p.Asp1535Asn) c.7482G>A c.10537G>A (p.Asp3513Asn) c.691G>A (p.Asp231Asn) c.1893G>A c.1634G>A c.4028G>A (n.4028G>A) c.10411G>A (p.Asp3471Asn) n.4340G>A c.10540G>A (p.Asp3514Asn) | |
2 | g.73572414G>C | CA347283471 | ALMS1 | c.10156G>C (p.Asp3386His) c.3242G>C c.7437G>C c.4603G>C (p.Asp1535His) c.7482G>C c.10537G>C (p.Asp3513His) c.691G>C (p.Asp231His) c.1893G>C c.1634G>C c.4028G>C (n.4028G>C) c.10411G>C (p.Asp3471His) n.4340G>C c.10540G>C (p.Asp3514His) | |
2 | g.73572414G= | CA1261021107 | ALMS1 | c.10156G= (p.Asp3386=) c.3242G= c.7437G= c.4603G= (p.Asp1535=) c.7482G= c.10537G= (p.Asp3513=) c.691G= (p.Asp231=) c.1893G= c.1634G= c.4028G= (n.4028G=) c.10411G= (p.Asp3471=) n.4340G= c.10540G= (p.Asp3514=) | |
2 | g.73572414G>T | CA347283474 | ALMS1 | c.10156G>T (p.Asp3386Tyr) c.3242G>T c.7437G>T c.4603G>T (p.Asp1535Tyr) c.7482G>T c.10537G>T (p.Asp3513Tyr) c.691G>T (p.Asp231Tyr) c.1893G>T c.1634G>T c.4028G>T (n.4028G>T) c.10411G>T (p.Asp3471Tyr) n.4340G>T c.10540G>T (p.Asp3514Tyr) | ClinVar dbSNP |
2 | g.73572415A= | CA1261021116 | ALMS1 | c.10157A= (p.Asp3386=) c.3243A= c.7438A= c.4604A= (p.Asp1535=) c.7483A= c.10538A= (p.Asp3513=) c.692A= (p.Asp231=) c.1894A= c.1635A= c.4029A= (n.4029A=) c.10412A= (p.Asp3471=) n.4341A= c.10541A= (p.Asp3514=) | |
2 | g.73572415A>C | CA347283476 | ALMS1 | c.10157A>C (p.Asp3386Ala) c.3243A>C c.7438A>C c.4604A>C (p.Asp1535Ala) c.7483A>C c.10538A>C (p.Asp3513Ala) c.692A>C (p.Asp231Ala) c.1894A>C c.1635A>C c.4029A>C (n.4029A>C) c.10412A>C (p.Asp3471Ala) n.4341A>C c.10541A>C (p.Asp3514Ala) | |
2 | g.73572415A>G | CA347283479 | ALMS1 | c.10157A>G (p.Asp3386Gly) c.3243A>G c.7438A>G c.4604A>G (p.Asp1535Gly) c.7483A>G c.10538A>G (p.Asp3513Gly) c.692A>G (p.Asp231Gly) c.1894A>G c.1635A>G c.4029A>G (n.4029A>G) c.10412A>G (p.Asp3471Gly) n.4341A>G c.10541A>G (p.Asp3514Gly) | |
2 | g.73572415A>T | CA1715018 | ALMS1 | c.10157A>T (p.Asp3386Val) c.3243A>T c.7438A>T c.4604A>T (p.Asp1535Val) c.7483A>T c.10538A>T (p.Asp3513Val) c.692A>T (p.Asp231Val) c.1894A>T c.1635A>T c.4029A>T (n.4029A>T) c.10412A>T (p.Asp3471Val) n.4341A>T c.10541A>T (p.Asp3514Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572416T>A | CA347283485 | ALMS1 | c.10158T>A (p.Asp3386Glu) c.3244T>A c.7439T>A c.4605T>A (p.Asp1535Glu) c.7484T>A c.10539T>A (p.Asp3513Glu) c.693T>A (p.Asp231Glu) c.1895T>A c.1636T>A c.4030T>A (n.4030T>A) c.10413T>A (p.Asp3471Glu) n.4342T>A c.10542T>A (p.Asp3514Glu) | |
2 | g.73572416T>C | CA427024661 | ALMS1 | c.10158T>C (p.Asp3386=) c.3244T>C c.7439T>C c.4605T>C (p.Asp1535=) c.7484T>C c.10539T>C (p.Asp3513=) c.693T>C (p.Asp231=) c.1895T>C c.1636T>C c.4030T>C (n.4030T>C) c.10413T>C (p.Asp3471=) n.4342T>C c.10542T>C (p.Asp3514=) | ClinVar |
2 | g.73572416T>G | CA347283489 | ALMS1 | c.10158T>G (p.Asp3386Glu) c.3244T>G c.7439T>G c.4605T>G (p.Asp1535Glu) c.7484T>G c.10539T>G (p.Asp3513Glu) c.693T>G (p.Asp231Glu) c.1895T>G c.1636T>G c.4030T>G (n.4030T>G) c.10413T>G (p.Asp3471Glu) n.4342T>G c.10542T>G (p.Asp3514Glu) | |
2 | g.73572417T>A | CA347283500 | ALMS1 | c.10159T>A (p.Phe3387Ile) c.3245T>A c.7440T>A c.4606T>A (p.Phe1536Ile) c.7485T>A c.10540T>A (p.Phe3514Ile) c.694T>A (p.Phe232Ile) c.1896T>A c.1637T>A c.4031T>A (n.4031T>A) c.10414T>A (p.Phe3472Ile) n.4343T>A c.10543T>A (p.Phe3515Ile) | |
2 | g.73572417T>C | CA347283496 | ALMS1 | c.10159T>C (p.Phe3387Leu) c.3245T>C c.7440T>C c.4606T>C (p.Phe1536Leu) c.7485T>C c.10540T>C (p.Phe3514Leu) c.694T>C (p.Phe232Leu) c.1896T>C c.1637T>C c.4031T>C (n.4031T>C) c.10414T>C (p.Phe3472Leu) n.4343T>C c.10543T>C (p.Phe3515Leu) | |
2 | g.73572417T>G | CA347283494 | ALMS1 | c.10159T>G (p.Phe3387Val) c.3245T>G c.7440T>G c.4606T>G (p.Phe1536Val) c.7485T>G c.10540T>G (p.Phe3514Val) c.694T>G (p.Phe232Val) c.1896T>G c.1637T>G c.4031T>G (n.4031T>G) c.10414T>G (p.Phe3472Val) n.4343T>G c.10543T>G (p.Phe3515Val) | |
2 | g.73572417_73572418insCATGGCAAATA | CA2522630544 | ALMS1 | c.10159_10160insCATGGCAAATA (p.Phe3387SerfsTer?) c.3245_3246insCATGGCAAATA c.7440_7441insCATGGCAAATA c.4606_4607insCATGGCAAATA (p.Phe1536SerfsTer?) c.7485_7486insCATGGCAAATA c.10540_10541insCATGGCAAATA (p.Phe3514SerfsTer?) c.694_695insCATGGCAAATA (p.Phe232SerfsTer?) c.1896_1897insCATGGCAAATA c.1637_1638insCATGGCAAATA c.4031_4032insCATGGCAAATA (n.4031_4032insCATGGCAAATA) c.10414_10415insCATGGCAAATA (p.Phe3472SerfsTer?) n.4343_4344insCATGGCAAATA c.10543_10544insCATGGCAAATA (p.Phe3515SerfsTer?) | |
2 | g.73572418T>A | CA347283503 | ALMS1 | c.10160T>A (p.Phe3387Tyr) c.3246T>A c.7441T>A c.4607T>A (p.Phe1536Tyr) c.7486T>A c.10541T>A (p.Phe3514Tyr) c.695T>A (p.Phe232Tyr) c.1897T>A c.1638T>A c.4032T>A (n.4032T>A) c.10415T>A (p.Phe3472Tyr) n.4344T>A c.10544T>A (p.Phe3515Tyr) | |
2 | g.73572418T>C | CA347283505 | ALMS1 | c.10160T>C (p.Phe3387Ser) c.3246T>C c.7441T>C c.4607T>C (p.Phe1536Ser) c.7486T>C c.10541T>C (p.Phe3514Ser) c.695T>C (p.Phe232Ser) c.1897T>C c.1638T>C c.4032T>C (n.4032T>C) c.10415T>C (p.Phe3472Ser) n.4344T>C c.10544T>C (p.Phe3515Ser) | |
2 | g.73572418T>G | CA347283509 | ALMS1 | c.10160T>G (p.Phe3387Cys) c.3246T>G c.7441T>G c.4607T>G (p.Phe1536Cys) c.7486T>G c.10541T>G (p.Phe3514Cys) c.695T>G (p.Phe232Cys) c.1897T>G c.1638T>G c.4032T>G (n.4032T>G) c.10415T>G (p.Phe3472Cys) n.4344T>G c.10544T>G (p.Phe3515Cys) | |
2 | g.73572419C>A | CA347283512 | ALMS1 | c.10161C>A (p.Phe3387Leu) c.3247C>A c.7442C>A c.4608C>A (p.Phe1536Leu) c.7487C>A c.10542C>A (p.Phe3514Leu) c.696C>A (p.Phe232Leu) c.1898C>A c.1639C>A c.4033C>A (n.4033C>A) c.10416C>A (p.Phe3472Leu) n.4345C>A c.10545C>A (p.Phe3515Leu) | |
2 | g.73572419C>G | CA347283513 | ALMS1 | c.10161C>G (p.Phe3387Leu) c.3247C>G c.7442C>G c.4608C>G (p.Phe1536Leu) c.7487C>G c.10542C>G (p.Phe3514Leu) c.696C>G (p.Phe232Leu) c.1898C>G c.1639C>G c.4033C>G (n.4033C>G) c.10416C>G (p.Phe3472Leu) n.4345C>G c.10545C>G (p.Phe3515Leu) | gnomAD v4 |
2 | g.73572419C>T | CA427024671 | ALMS1 | c.10161C>T (p.Phe3387=) c.3247C>T c.7442C>T c.4608C>T (p.Phe1536=) c.7487C>T c.10542C>T (p.Phe3514=) c.696C>T (p.Phe232=) c.1898C>T c.1639C>T c.4033C>T (n.4033C>T) c.10416C>T (p.Phe3472=) n.4345C>T c.10545C>T (p.Phe3515=) | |
2 | g.73572420T>A | CA347283514 | ALMS1 | c.10162T>A (p.Phe3388Ile) c.3248T>A c.7443T>A c.4609T>A (p.Phe1537Ile) c.7488T>A c.10543T>A (p.Phe3515Ile) c.697T>A (p.Phe233Ile) c.1899T>A c.1640T>A c.4034T>A (n.4034T>A) c.10417T>A (p.Phe3473Ile) n.4346T>A c.10546T>A (p.Phe3516Ile) | |
2 | g.73572420T>C | CA347283515 | ALMS1 | c.10162T>C (p.Phe3388Leu) c.3248T>C c.7443T>C c.4609T>C (p.Phe1537Leu) c.7488T>C c.10543T>C (p.Phe3515Leu) c.697T>C (p.Phe233Leu) c.1899T>C c.1640T>C c.4034T>C (n.4034T>C) c.10417T>C (p.Phe3473Leu) n.4346T>C c.10546T>C (p.Phe3516Leu) | |
2 | g.73572420T>G | CA347283517 | ALMS1 | c.10162T>G (p.Phe3388Val) c.3248T>G c.7443T>G c.4609T>G (p.Phe1537Val) c.7488T>G c.10543T>G (p.Phe3515Val) c.697T>G (p.Phe233Val) c.1899T>G c.1640T>G c.4034T>G (n.4034T>G) c.10417T>G (p.Phe3473Val) n.4346T>G c.10546T>G (p.Phe3516Val) | |
2 | g.73572421T>A | CA347283520 | ALMS1 | c.10163T>A (p.Phe3388Tyr) c.3249T>A c.7444T>A c.4610T>A (p.Phe1537Tyr) c.7489T>A c.10544T>A (p.Phe3515Tyr) c.698T>A (p.Phe233Tyr) c.1900T>A c.1641T>A c.4035T>A (n.4035T>A) c.10418T>A (p.Phe3473Tyr) n.4347T>A c.10547T>A (p.Phe3516Tyr) | |
2 | g.73572421T>C | CA347283523 | ALMS1 | c.10163T>C (p.Phe3388Ser) c.3249T>C c.7444T>C c.4610T>C (p.Phe1537Ser) c.7489T>C c.10544T>C (p.Phe3515Ser) c.698T>C (p.Phe233Ser) c.1900T>C c.1641T>C c.4035T>C (n.4035T>C) c.10418T>C (p.Phe3473Ser) n.4347T>C c.10547T>C (p.Phe3516Ser) | |
2 | g.73572421T>G | CA347283526 | ALMS1 | c.10163T>G (p.Phe3388Cys) c.3249T>G c.7444T>G c.4610T>G (p.Phe1537Cys) c.7489T>G c.10544T>G (p.Phe3515Cys) c.698T>G (p.Phe233Cys) c.1900T>G c.1641T>G c.4035T>G (n.4035T>G) c.10418T>G (p.Phe3473Cys) n.4347T>G c.10547T>G (p.Phe3516Cys) | |
2 | g.73572421T= | CA1261021119 | ALMS1 | c.10163T= (p.Phe3388=) c.3249T= c.7444T= c.4610T= (p.Phe1537=) c.7489T= c.10544T= (p.Phe3515=) c.698T= (p.Phe233=) c.1900T= c.1641T= c.4035T= (n.4035T=) c.10418T= (p.Phe3473=) n.4347T= c.10547T= (p.Phe3516=) | |
2 | g.73572421_73572422insCA | CA658822830 | ALMS1 | c.10163_10164insCA (p.Gln3389IlefsTer?) c.3249_3250insCA c.7444_7445insCA c.4610_4611insCA (p.Gln1538IlefsTer?) c.7489_7490insCA c.10544_10545insCA (p.Gln3516IlefsTer?) c.698_699insCA (p.Gln234IlefsTer?) c.1900_1901insCA c.1641_1642insCA c.4035_4036insCA (n.4035_4036insCA) c.10418_10419insCA (p.Gln3474IlefsTer?) n.4347_4348insCA c.10547_10548insCA (p.Gln3517IlefsTer?) | ClinVar dbSNP |
2 | g.73572422T>A | CA1715019 | ALMS1 | c.10164T>A (p.Phe3388Leu) c.3250T>A c.7445T>A c.4611T>A (p.Phe1537Leu) c.7490T>A c.10545T>A (p.Phe3515Leu) c.699T>A (p.Phe233Leu) c.1901T>A c.1642T>A c.4036T>A (n.4036T>A) c.10419T>A (p.Phe3473Leu) n.4348T>A c.10548T>A (p.Phe3516Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572422T>C | CA427024676 | ALMS1 | c.10164T>C (p.Phe3388=) c.3250T>C c.7445T>C c.4611T>C (p.Phe1537=) c.7490T>C c.10545T>C (p.Phe3515=) c.699T>C (p.Phe233=) c.1901T>C c.1642T>C c.4036T>C (n.4036T>C) c.10419T>C (p.Phe3473=) n.4348T>C c.10548T>C (p.Phe3516=) | |
2 | g.73572422T>G | CA347283534 | ALMS1 | c.10164T>G (p.Phe3388Leu) c.3250T>G c.7445T>G c.4611T>G (p.Phe1537Leu) c.7490T>G c.10545T>G (p.Phe3515Leu) c.699T>G (p.Phe233Leu) c.1901T>G c.1642T>G c.4036T>G (n.4036T>G) c.10419T>G (p.Phe3473Leu) n.4348T>G c.10548T>G (p.Phe3516Leu) | ClinVar gnomAD v4 |
2 | g.73572422T= | CA1261021128 | ALMS1 | c.10164T= (p.Phe3388=) c.3250T= c.7445T= c.4611T= (p.Phe1537=) c.7490T= c.10545T= (p.Phe3515=) c.699T= (p.Phe233=) c.1901T= c.1642T= c.4036T= (n.4036T=) c.10419T= (p.Phe3473=) n.4348T= c.10548T= (p.Phe3516=) | |
2 | g.73572423C>A | CA347283543 | ALMS1 | c.10165C>A (p.Gln3389Lys) c.3251C>A c.7446C>A c.4612C>A (p.Gln1538Lys) c.7491C>A c.10546C>A (p.Gln3516Lys) c.700C>A (p.Gln234Lys) c.1902C>A c.1643C>A c.4037C>A (n.4037C>A) c.10420C>A (p.Gln3474Lys) n.4349C>A c.10549C>A (p.Gln3517Lys) | |
2 | g.73572423C= | CA1261021141 | ALMS1 | c.10165C= (p.Gln3389=) c.3251C= c.7446C= c.4612C= (p.Gln1538=) c.7491C= c.10546C= (p.Gln3516=) c.700C= (p.Gln234=) c.1902C= c.1643C= c.4037C= (n.4037C=) c.10420C= (p.Gln3474=) n.4349C= c.10549C= (p.Gln3517=) | |
2 | g.73572423C>G | CA1715021 | ALMS1 | c.10165C>G (p.Gln3389Glu) c.3251C>G c.7446C>G c.4612C>G (p.Gln1538Glu) c.7491C>G c.10546C>G (p.Gln3516Glu) c.700C>G (p.Gln234Glu) c.1902C>G c.1643C>G c.4037C>G (n.4037C>G) c.10420C>G (p.Gln3474Glu) n.4349C>G c.10549C>G (p.Gln3517Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572423C>T | CA1715020 | ALMS1 | c.10165C>T (p.Gln3389Ter) c.3251C>T c.7446C>T c.4612C>T (p.Gln1538Ter) c.7491C>T c.10546C>T (p.Gln3516Ter) c.700C>T (p.Gln234Ter) c.1902C>T c.1643C>T c.4037C>T (n.4037C>T) c.10420C>T (p.Gln3474Ter) n.4349C>T c.10549C>T (p.Gln3517Ter) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.73572424A= | CA1261021152 | ALMS1 | c.10166A= (p.Gln3389=) c.3252A= c.7447A= c.4613A= (p.Gln1538=) c.7492A= c.10547A= (p.Gln3516=) c.701A= (p.Gln234=) c.1903A= c.1644A= c.4038A= (n.4038A=) c.10421A= (p.Gln3474=) n.4350A= c.10550A= (p.Gln3517=) | |
2 | g.73572424A>C | CA347283556 | ALMS1 | c.10166A>C (p.Gln3389Pro) c.3252A>C c.7447A>C c.4613A>C (p.Gln1538Pro) c.7492A>C c.10547A>C (p.Gln3516Pro) c.701A>C (p.Gln234Pro) c.1903A>C c.1644A>C c.4038A>C (n.4038A>C) c.10421A>C (p.Gln3474Pro) n.4350A>C c.10550A>C (p.Gln3517Pro) | |
2 | g.73572424A>G | CA347283549 | ALMS1 | c.10166A>G (p.Gln3389Arg) c.3252A>G c.7447A>G c.4613A>G (p.Gln1538Arg) c.7492A>G c.10547A>G (p.Gln3516Arg) c.701A>G (p.Gln234Arg) c.1903A>G c.1644A>G c.4038A>G (n.4038A>G) c.10421A>G (p.Gln3474Arg) n.4350A>G c.10550A>G (p.Gln3517Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572424A>T | CA347283552 | ALMS1 | c.10166A>T (p.Gln3389Leu) c.3252A>T c.7447A>T c.4613A>T (p.Gln1538Leu) c.7492A>T c.10547A>T (p.Gln3516Leu) c.701A>T (p.Gln234Leu) c.1903A>T c.1644A>T c.4038A>T (n.4038A>T) c.10421A>T (p.Gln3474Leu) n.4350A>T c.10550A>T (p.Gln3517Leu) | |
2 | g.73572425G>A | CA427024677 | ALMS1 | c.10167G>A (p.Gln3389=) c.3253G>A c.7448G>A c.4614G>A (p.Gln1538=) c.7493G>A c.10548G>A (p.Gln3516=) c.702G>A (p.Gln234=) c.1904G>A c.1645G>A c.4039G>A (n.4039G>A) c.10422G>A (p.Gln3474=) n.4351G>A c.10551G>A (p.Gln3517=) | |
2 | g.73572425G>C | CA347283558 | ALMS1 | c.10167G>C (p.Gln3389His) c.3253G>C c.7448G>C c.4614G>C (p.Gln1538His) c.7493G>C c.10548G>C (p.Gln3516His) c.702G>C (p.Gln234His) c.1904G>C c.1645G>C c.4039G>C (n.4039G>C) c.10422G>C (p.Gln3474His) n.4351G>C c.10551G>C (p.Gln3517His) | |
2 | g.73572425G>T | CA347283561 | ALMS1 | c.10167G>T (p.Gln3389His) c.3253G>T c.7448G>T c.4614G>T (p.Gln1538His) c.7493G>T c.10548G>T (p.Gln3516His) c.702G>T (p.Gln234His) c.1904G>T c.1645G>T c.4039G>T (n.4039G>T) c.10422G>T (p.Gln3474His) n.4351G>T c.10551G>T (p.Gln3517His) | |
2 | g.73572426C>A | CA347283566 | ALMS1 | c.10168C>A (p.His3390Asn) c.3254C>A c.7449C>A c.4615C>A (p.His1539Asn) c.7494C>A c.10549C>A (p.His3517Asn) c.703C>A (p.His235Asn) c.1905C>A c.1646C>A c.4040C>A (n.4040C>A) c.10423C>A (p.His3475Asn) n.4352C>A c.10552C>A (p.His3518Asn) | |
2 | g.73572426C>G | CA347283568 | ALMS1 | c.10168C>G (p.His3390Asp) c.3254C>G c.7449C>G c.4615C>G (p.His1539Asp) c.7494C>G c.10549C>G (p.His3517Asp) c.703C>G (p.His235Asp) c.1905C>G c.1646C>G c.4040C>G (n.4040C>G) c.10423C>G (p.His3475Asp) n.4352C>G c.10552C>G (p.His3518Asp) | |
2 | g.73572426C>T | CA347283571 | ALMS1 | c.10168C>T (p.His3390Tyr) c.3254C>T c.7449C>T c.4615C>T (p.His1539Tyr) c.7494C>T c.10549C>T (p.His3517Tyr) c.703C>T (p.His235Tyr) c.1905C>T c.1646C>T c.4040C>T (n.4040C>T) c.10423C>T (p.His3475Tyr) n.4352C>T c.10552C>T (p.His3518Tyr) | |
2 | g.73572427A= | CA1261021157 | ALMS1 | c.10169A= (p.His3390=) c.3255A= c.7450A= c.4616A= (p.His1539=) c.7495A= c.10550A= (p.His3517=) c.704A= (p.His235=) c.1906A= c.1647A= c.4041A= (n.4041A=) c.10424A= (p.His3475=) n.4353A= c.10553A= (p.His3518=) | |
2 | g.73572427A>C | CA347283582 | ALMS1 | c.10169A>C (p.His3390Pro) c.3255A>C c.7450A>C c.4616A>C (p.His1539Pro) c.7495A>C c.10550A>C (p.His3517Pro) c.704A>C (p.His235Pro) c.1906A>C c.1647A>C c.4041A>C (n.4041A>C) c.10424A>C (p.His3475Pro) n.4353A>C c.10553A>C (p.His3518Pro) | |
2 | g.73572427A>G | CA1715022 | ALMS1 | c.10169A>G (p.His3390Arg) c.3255A>G c.7450A>G c.4616A>G (p.His1539Arg) c.7495A>G c.10550A>G (p.His3517Arg) c.704A>G (p.His235Arg) c.1906A>G c.1647A>G c.4041A>G (n.4041A>G) c.10424A>G (p.His3475Arg) n.4353A>G c.10553A>G (p.His3518Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572427A>T | CA347283577 | ALMS1 | c.10169A>T (p.His3390Leu) c.3255A>T c.7450A>T c.4616A>T (p.His1539Leu) c.7495A>T c.10550A>T (p.His3517Leu) c.704A>T (p.His235Leu) c.1906A>T c.1647A>T c.4041A>T (n.4041A>T) c.10424A>T (p.His3475Leu) n.4353A>T c.10553A>T (p.His3518Leu) | |
2 | g.73572428T>A | CA347283586 | ALMS1 | c.10170T>A (p.His3390Gln) c.3256T>A c.7451T>A c.4617T>A (p.His1539Gln) c.7496T>A c.10551T>A (p.His3517Gln) c.705T>A (p.His235Gln) c.1907T>A c.1648T>A c.4042T>A (n.4042T>A) c.10425T>A (p.His3475Gln) n.4354T>A c.10554T>A (p.His3518Gln) | |
2 | g.73572428T>C | CA427024679 | ALMS1 | c.10170T>C (p.His3390=) c.3256T>C c.7451T>C c.4617T>C (p.His1539=) c.7496T>C c.10551T>C (p.His3517=) c.705T>C (p.His235=) c.1907T>C c.1648T>C c.4042T>C (n.4042T>C) c.10425T>C (p.His3475=) n.4354T>C c.10554T>C (p.His3518=) | |
2 | g.73572428T>G | CA1715023 | ALMS1 | c.10170T>G (p.His3390Gln) c.3256T>G c.7451T>G c.4617T>G (p.His1539Gln) c.7496T>G c.10551T>G (p.His3517Gln) c.705T>G (p.His235Gln) c.1907T>G c.1648T>G c.4042T>G (n.4042T>G) c.10425T>G (p.His3475Gln) n.4354T>G c.10554T>G (p.His3518Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572428T= | CA1261021159 | ALMS1 | c.10170T= (p.His3390=) c.3256T= c.7451T= c.4617T= (p.His1539=) c.7496T= c.10551T= (p.His3517=) c.705T= (p.His235=) c.1907T= c.1648T= c.4042T= (n.4042T=) c.10425T= (p.His3475=) n.4354T= c.10554T= (p.His3518=) | |
2 | g.73572429C>A | CA347283596 | ALMS1 | c.10171C>A (p.His3391Asn) c.3257C>A c.7452C>A c.4618C>A (p.His1540Asn) c.7497C>A c.10552C>A (p.His3518Asn) c.706C>A (p.His236Asn) c.1908C>A c.1649C>A c.4043C>A (n.4043C>A) c.10426C>A (p.His3476Asn) n.4355C>A c.10555C>A (p.His3519Asn) | |
2 | g.73572429C>G | CA347283599 | ALMS1 | c.10171C>G (p.His3391Asp) c.3257C>G c.7452C>G c.4618C>G (p.His1540Asp) c.7497C>G c.10552C>G (p.His3518Asp) c.706C>G (p.His236Asp) c.1908C>G c.1649C>G c.4043C>G (n.4043C>G) c.10426C>G (p.His3476Asp) n.4355C>G c.10555C>G (p.His3519Asp) | |
2 | g.73572429C>T | CA347283603 | ALMS1 | c.10171C>T (p.His3391Tyr) c.3257C>T c.7452C>T c.4618C>T (p.His1540Tyr) c.7497C>T c.10552C>T (p.His3518Tyr) c.706C>T (p.His236Tyr) c.1908C>T c.1649C>T c.4043C>T (n.4043C>T) c.10426C>T (p.His3476Tyr) n.4355C>T c.10555C>T (p.His3519Tyr) | ClinVar dbSNP |
2 | g.73572430A= | CA1261021165 | ALMS1 | c.10172A= (p.His3391=) c.3258A= c.7453A= c.4619A= (p.His1540=) c.7498A= c.10553A= (p.His3518=) c.707A= (p.His236=) c.1909A= c.1650A= c.4044A= (n.4044A=) c.10427A= (p.His3476=) n.4356A= c.10556A= (p.His3519=) | |
2 | g.73572430A>C | CA347283610 | ALMS1 | c.10172A>C (p.His3391Pro) c.3258A>C c.7453A>C c.4619A>C (p.His1540Pro) c.7498A>C c.10553A>C (p.His3518Pro) c.707A>C (p.His236Pro) c.1909A>C c.1650A>C c.4044A>C (n.4044A>C) c.10427A>C (p.His3476Pro) n.4356A>C c.10556A>C (p.His3519Pro) | |
2 | g.73572430A>G | CA347283616 | ALMS1 | c.10172A>G (p.His3391Arg) c.3258A>G c.7453A>G c.4619A>G (p.His1540Arg) c.7498A>G c.10553A>G (p.His3518Arg) c.707A>G (p.His236Arg) c.1909A>G c.1650A>G c.4044A>G (n.4044A>G) c.10427A>G (p.His3476Arg) n.4356A>G c.10556A>G (p.His3519Arg) | |
2 | g.73572430A>T | CA347283613 | ALMS1 | c.10172A>T (p.His3391Leu) c.3258A>T c.7453A>T c.4619A>T (p.His1540Leu) c.7498A>T c.10553A>T (p.His3518Leu) c.707A>T (p.His236Leu) c.1909A>T c.1650A>T c.4044A>T (n.4044A>T) c.10427A>T (p.His3476Leu) n.4356A>T c.10556A>T (p.His3519Leu) | |
2 | g.73572431T>A | CA347283622 | ALMS1 | c.10173T>A (p.His3391Gln) c.3259T>A c.7454T>A c.4620T>A (p.His1540Gln) c.7499T>A c.10554T>A (p.His3518Gln) c.708T>A (p.His236Gln) c.1910T>A c.1651T>A c.4045T>A (n.4045T>A) c.10428T>A (p.His3476Gln) n.4357T>A c.10557T>A (p.His3519Gln) | |
2 | g.73572431T>C | CA50386240 | ALMS1 | c.10173T>C (p.His3391=) c.3259T>C c.7454T>C c.4620T>C (p.His1540=) c.7499T>C c.10554T>C (p.His3518=) c.708T>C (p.His236=) c.1910T>C c.1651T>C c.4045T>C (n.4045T>C) c.10428T>C (p.His3476=) n.4357T>C c.10557T>C (p.His3519=) | ClinVar dbSNP |
2 | g.73572431T>G | CA347283624 | ALMS1 | c.10173T>G (p.His3391Gln) c.3259T>G c.7454T>G c.4620T>G (p.His1540Gln) c.7499T>G c.10554T>G (p.His3518Gln) c.708T>G (p.His236Gln) c.1910T>G c.1651T>G c.4045T>G (n.4045T>G) c.10428T>G (p.His3476Gln) n.4357T>G c.10557T>G (p.His3519Gln) | |
2 | g.73572431T= | CA1261021171 | ALMS1 | c.10173T= (p.His3391=) c.3259T= c.7454T= c.4620T= (p.His1540=) c.7499T= c.10554T= (p.His3518=) c.708T= (p.His236=) c.1910T= c.1651T= c.4045T= (n.4045T=) c.10428T= (p.His3476=) n.4357T= c.10557T= (p.His3519=) | |
2 | g.73572431dup | CA1715024 | ALMS1 | c.10173dup (p.Pro3392SerfsTer5) c.3259dup c.7454dup c.4620dup (p.Pro1541SerfsTer5) c.7499dup c.10554dup (p.Pro3519SerfsTer5) c.708dup (p.Pro237SerfsTer5) c.1910dup c.1651dup c.4045dup (n.4045dup) c.10428dup (p.Pro3477SerfsTer5) n.4357dup c.10557dup (p.Pro3520SerfsTer5) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572432C>A | CA347283628 | ALMS1 | c.10174C>A (p.Pro3392Thr) c.3260C>A c.7455C>A c.4621C>A (p.Pro1541Thr) c.7500C>A c.10555C>A (p.Pro3519Thr) c.709C>A (p.Pro237Thr) c.1911C>A c.1652C>A c.4046C>A (n.4046C>A) c.10429C>A (p.Pro3477Thr) n.4358C>A c.10558C>A (p.Pro3520Thr) | |
2 | g.73572432C>G | CA347283632 | ALMS1 | c.10174C>G (p.Pro3392Ala) c.3260C>G c.7455C>G c.4621C>G (p.Pro1541Ala) c.7500C>G c.10555C>G (p.Pro3519Ala) c.709C>G (p.Pro237Ala) c.1911C>G c.1652C>G c.4046C>G (n.4046C>G) c.10429C>G (p.Pro3477Ala) n.4358C>G c.10558C>G (p.Pro3520Ala) | gnomAD v4 |
2 | g.73572432C>T | CA347283636 | ALMS1 | c.10174C>T (p.Pro3392Ser) c.3260C>T c.7455C>T c.4621C>T (p.Pro1541Ser) c.7500C>T c.10555C>T (p.Pro3519Ser) c.709C>T (p.Pro237Ser) c.1911C>T c.1652C>T c.4046C>T (n.4046C>T) c.10429C>T (p.Pro3477Ser) n.4358C>T c.10558C>T (p.Pro3520Ser) | |
2 | g.73572433C>A | CA50386241 | ALMS1 | c.10175C>A (p.Pro3392Gln) c.3261C>A c.7456C>A c.4622C>A (p.Pro1541Gln) c.7501C>A c.10556C>A (p.Pro3519Gln) c.710C>A (p.Pro237Gln) c.1912C>A c.1653C>A c.4047C>A (n.4047C>A) c.10430C>A (p.Pro3477Gln) n.4359C>A c.10559C>A (p.Pro3520Gln) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572433C= | CA1261021176 | ALMS1 | c.10175C= (p.Pro3392=) c.3261C= c.7456C= c.4622C= (p.Pro1541=) c.7501C= c.10556C= (p.Pro3519=) c.710C= (p.Pro237=) c.1912C= c.1653C= c.4047C= (n.4047C=) c.10430C= (p.Pro3477=) n.4359C= c.10559C= (p.Pro3520=) | |
2 | g.73572433C>G | CA347283644 | ALMS1 | c.10175C>G (p.Pro3392Arg) c.3261C>G c.7456C>G c.4622C>G (p.Pro1541Arg) c.7501C>G c.10556C>G (p.Pro3519Arg) c.710C>G (p.Pro237Arg) c.1912C>G c.1653C>G c.4047C>G (n.4047C>G) c.10430C>G (p.Pro3477Arg) n.4359C>G c.10559C>G (p.Pro3520Arg) | |
2 | g.73572433C>T | CA347283647 | ALMS1 | c.10175C>T (p.Pro3392Leu) c.3261C>T c.7456C>T c.4622C>T (p.Pro1541Leu) c.7501C>T c.10556C>T (p.Pro3519Leu) c.710C>T (p.Pro237Leu) c.1912C>T c.1653C>T c.4047C>T (n.4047C>T) c.10430C>T (p.Pro3477Leu) n.4359C>T c.10559C>T (p.Pro3520Leu) | |
2 | g.73572435_73572438del | CA2499216267 | ALMS1 | c.10177_10180del (p.Asp3393AsnfsTer25) c.3263_3266del c.7458_7461del c.4624_4627del (p.Asp1542AsnfsTer25) c.7503_7506del c.10558_10561del (p.Asp3520AsnfsTer25) c.712_715del (p.Asp238AsnfsTer25) c.1914_1917del c.1655_1658del c.4049_4052del (n.4049_4052del) c.10432_10435del (p.Asp3478AsnfsTer25) n.4361_4364del c.10561_10564del (p.Asp3521AsnfsTer25) | ClinVar dbSNP |
2 | g.73572434A>C | CA427024686 | ALMS1 | c.10176A>C (p.Pro3392=) c.3262A>C c.7457A>C c.4623A>C (p.Pro1541=) c.7502A>C c.10557A>C (p.Pro3519=) c.711A>C (p.Pro237=) c.1913A>C c.1654A>C c.4048A>C (n.4048A>C) c.10431A>C (p.Pro3477=) n.4360A>C c.10560A>C (p.Pro3520=) | |
2 | g.73572434A>G | CA427024687 | ALMS1 | c.10176A>G (p.Pro3392=) c.3262A>G c.7457A>G c.4623A>G (p.Pro1541=) c.7502A>G c.10557A>G (p.Pro3519=) c.711A>G (p.Pro237=) c.1913A>G c.1654A>G c.4048A>G (n.4048A>G) c.10431A>G (p.Pro3477=) n.4360A>G c.10560A>G (p.Pro3520=) | ClinVar |
2 | g.73572434A>T | CA427024688 | ALMS1 | c.10176A>T (p.Pro3392=) c.3262A>T c.7457A>T c.4623A>T (p.Pro1541=) c.7502A>T c.10557A>T (p.Pro3519=) c.711A>T (p.Pro237=) c.1913A>T c.1654A>T c.4048A>T (n.4048A>T) c.10431A>T (p.Pro3477=) n.4360A>T c.10560A>T (p.Pro3520=) | |
2 | g.73572435G>A | CA347283650 | ALMS1 | c.10177G>A (p.Asp3393Asn) c.3263G>A c.7458G>A c.4624G>A (p.Asp1542Asn) c.7503G>A c.10558G>A (p.Asp3520Asn) c.712G>A (p.Asp238Asn) c.1914G>A c.1655G>A c.4049G>A (n.4049G>A) c.10432G>A (p.Asp3478Asn) n.4361G>A c.10561G>A (p.Asp3521Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572435G>C | CA347283653 | ALMS1 | c.10177G>C (p.Asp3393His) c.3263G>C c.7458G>C c.4624G>C (p.Asp1542His) c.7503G>C c.10558G>C (p.Asp3520His) c.712G>C (p.Asp238His) c.1914G>C c.1655G>C c.4049G>C (n.4049G>C) c.10432G>C (p.Asp3478His) n.4361G>C c.10561G>C (p.Asp3521His) | ClinVar dbSNP |
2 | g.73572435G= | CA1261021178 | ALMS1 | c.10177G= (p.Asp3393=) c.3263G= c.7458G= c.4624G= (p.Asp1542=) c.7503G= c.10558G= (p.Asp3520=) c.712G= (p.Asp238=) c.1914G= c.1655G= c.4049G= (n.4049G=) c.10432G= (p.Asp3478=) n.4361G= c.10561G= (p.Asp3521=) | |
2 | g.73572435G>T | CA347283658 | ALMS1 | c.10177G>T (p.Asp3393Tyr) c.3263G>T c.7458G>T c.4624G>T (p.Asp1542Tyr) c.7503G>T c.10558G>T (p.Asp3520Tyr) c.712G>T (p.Asp238Tyr) c.1914G>T c.1655G>T c.4049G>T (n.4049G>T) c.10432G>T (p.Asp3478Tyr) n.4361G>T c.10561G>T (p.Asp3521Tyr) | |
2 | g.73572436A>C | CA347283669 | ALMS1 | c.10178A>C (p.Asp3393Ala) c.3264A>C c.7459A>C c.4625A>C (p.Asp1542Ala) c.7504A>C c.10559A>C (p.Asp3520Ala) c.713A>C (p.Asp238Ala) c.1915A>C c.1656A>C c.4050A>C (n.4050A>C) c.10433A>C (p.Asp3478Ala) n.4362A>C c.10562A>C (p.Asp3521Ala) | |
2 | g.73572436A>G | CA347283663 | ALMS1 | c.10178A>G (p.Asp3393Gly) c.3264A>G c.7459A>G c.4625A>G (p.Asp1542Gly) c.7504A>G c.10559A>G (p.Asp3520Gly) c.713A>G (p.Asp238Gly) c.1915A>G c.1656A>G c.4050A>G (n.4050A>G) c.10433A>G (p.Asp3478Gly) n.4362A>G c.10562A>G (p.Asp3521Gly) | dbSNP gnomAD v4 |
2 | g.73572436A>T | CA347283666 | ALMS1 | c.10178A>T (p.Asp3393Val) c.3264A>T c.7459A>T c.4625A>T (p.Asp1542Val) c.7504A>T c.10559A>T (p.Asp3520Val) c.713A>T (p.Asp238Val) c.1915A>T c.1656A>T c.4050A>T (n.4050A>T) c.10433A>T (p.Asp3478Val) n.4362A>T c.10562A>T (p.Asp3521Val) | |
2 | g.73572437C>A | CA347283672 | ALMS1 | c.10179C>A (p.Asp3393Glu) c.3265C>A c.7460C>A c.4626C>A (p.Asp1542Glu) c.7505C>A c.10560C>A (p.Asp3520Glu) c.714C>A (p.Asp238Glu) c.1916C>A c.1657C>A c.4051C>A (n.4051C>A) c.10434C>A (p.Asp3478Glu) n.4363C>A c.10563C>A (p.Asp3521Glu) | dbSNP |
2 | g.73572437C>G | CA347283675 | ALMS1 | c.10179C>G (p.Asp3393Glu) c.3265C>G c.7460C>G c.4626C>G (p.Asp1542Glu) c.7505C>G c.10560C>G (p.Asp3520Glu) c.714C>G (p.Asp238Glu) c.1916C>G c.1657C>G c.4051C>G (n.4051C>G) c.10434C>G (p.Asp3478Glu) n.4363C>G c.10563C>G (p.Asp3521Glu) | |
2 | g.73572437C>T | CA427024692 | ALMS1 | c.10179C>T (p.Asp3393=) c.3265C>T c.7460C>T c.4626C>T (p.Asp1542=) c.7505C>T c.10560C>T (p.Asp3520=) c.714C>T (p.Asp238=) c.1916C>T c.1657C>T c.4051C>T (n.4051C>T) c.10434C>T (p.Asp3478=) n.4363C>T c.10563C>T (p.Asp3521=) | |
2 | g.73572438A>C | CA347283679 | ALMS1 | c.10180A>C (p.Lys3394Gln) c.3266A>C c.7461A>C c.4627A>C (p.Lys1543Gln) c.7506A>C c.10561A>C (p.Lys3521Gln) c.715A>C (p.Lys239Gln) c.1917A>C c.1658A>C c.4052A>C (n.4052A>C) c.10435A>C (p.Lys3479Gln) n.4364A>C c.10564A>C (p.Lys3522Gln) | |
2 | g.73572438A>G | CA347283686 | ALMS1 | c.10180A>G (p.Lys3394Glu) c.3266A>G c.7461A>G c.4627A>G (p.Lys1543Glu) c.7506A>G c.10561A>G (p.Lys3521Glu) c.715A>G (p.Lys239Glu) c.1917A>G c.1658A>G c.4052A>G (n.4052A>G) c.10435A>G (p.Lys3479Glu) n.4364A>G c.10564A>G (p.Lys3522Glu) | |
2 | g.73572438A>T | CA347283687 | ALMS1 | c.10180A>T (p.Lys3394Ter) c.3266A>T c.7461A>T c.4627A>T (p.Lys1543Ter) c.7506A>T c.10561A>T (p.Lys3521Ter) c.715A>T (p.Lys239Ter) c.1917A>T c.1658A>T c.4052A>T (n.4052A>T) c.10435A>T (p.Lys3479Ter) n.4364A>T c.10564A>T (p.Lys3522Ter) | |
2 | g.73572439A= | CA1261021183 | ALMS1 | c.10181A= (p.Lys3394=) c.3267A= c.7462A= c.4628A= (p.Lys1543=) c.7507A= c.10562A= (p.Lys3521=) c.716A= (p.Lys239=) c.1918A= c.1659A= c.4053A= (n.4053A=) c.10436A= (p.Lys3479=) n.4365A= c.10565A= (p.Lys3522=) | |
2 | g.73572439A>C | CA347283690 | ALMS1 | c.10181A>C (p.Lys3394Thr) c.3267A>C c.7462A>C c.4628A>C (p.Lys1543Thr) c.7507A>C c.10562A>C (p.Lys3521Thr) c.716A>C (p.Lys239Thr) c.1918A>C c.1659A>C c.4053A>C (n.4053A>C) c.10436A>C (p.Lys3479Thr) n.4365A>C c.10565A>C (p.Lys3522Thr) | |
2 | g.73572439A>G | CA347283693 | ALMS1 | c.10181A>G (p.Lys3394Arg) c.3267A>G c.7462A>G c.4628A>G (p.Lys1543Arg) c.7507A>G c.10562A>G (p.Lys3521Arg) c.716A>G (p.Lys239Arg) c.1918A>G c.1659A>G c.4053A>G (n.4053A>G) c.10436A>G (p.Lys3479Arg) n.4365A>G c.10565A>G (p.Lys3522Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.73572439A>T | CA347283696 | ALMS1 | c.10181A>T (p.Lys3394Ile) c.3267A>T c.7462A>T c.4628A>T (p.Lys1543Ile) c.7507A>T c.10562A>T (p.Lys3521Ile) c.716A>T (p.Lys239Ile) c.1918A>T c.1659A>T c.4053A>T (n.4053A>T) c.10436A>T (p.Lys3479Ile) n.4365A>T c.10565A>T (p.Lys3522Ile) | |
2 | g.73572440A>C | CA347283702 | ALMS1 | c.10182A>C (p.Lys3394Asn) c.3268A>C c.7463A>C c.4629A>C (p.Lys1543Asn) c.7508A>C c.10563A>C (p.Lys3521Asn) c.717A>C (p.Lys239Asn) c.1919A>C c.1660A>C c.4054A>C (n.4054A>C) c.10437A>C (p.Lys3479Asn) n.4366A>C c.10566A>C (p.Lys3522Asn) | |
2 | g.73572440A>G | CA427024697 | ALMS1 | c.10182A>G (p.Lys3394=) c.3268A>G c.7463A>G c.4629A>G (p.Lys1543=) c.7508A>G c.10563A>G (p.Lys3521=) c.717A>G (p.Lys239=) c.1919A>G c.1660A>G c.4054A>G (n.4054A>G) c.10437A>G (p.Lys3479=) n.4366A>G c.10566A>G (p.Lys3522=) | |
2 | g.73572440A>T | CA347283705 | ALMS1 | c.10182A>T (p.Lys3394Asn) c.3268A>T c.7463A>T c.4629A>T (p.Lys1543Asn) c.7508A>T c.10563A>T (p.Lys3521Asn) c.717A>T (p.Lys239Asn) c.1919A>T c.1660A>T c.4054A>T (n.4054A>T) c.10437A>T (p.Lys3479Asn) n.4366A>T c.10566A>T (p.Lys3522Asn) | |
2 | g.73572448_73572449insCACATAGAGA | CA915944042 | ALMS1 | c.10190_10191insCACATAGAGA (p.Glu3397AspfsTer3) c.3276_3277insCACATAGAGA c.7471_7472insCACATAGAGA c.4637_4638insCACATAGAGA (p.Glu1546AspfsTer3) c.7516_7517insCACATAGAGA c.10571_10572insCACATAGAGA (p.Glu3524AspfsTer3) c.725_726insCACATAGAGA (p.Glu242AspfsTer3) c.1927_1928insCACATAGAGA c.1668_1669insCACATAGAGA c.4062_4063insCACATAGAGA (n.4062_4063insCACATAGAGA) c.10445_10446insCACATAGAGA (p.Glu3482AspfsTer3) n.4374_4375insCACATAGAGA c.10574_10575insCACATAGAGA (p.Glu3525AspfsTer3) | ClinVar dbSNP |
2 | g.73572441C>A | CA347283709 | ALMS1 | c.10183C>A (p.His3395Asn) c.3269C>A c.7464C>A c.4630C>A (p.His1544Asn) c.7509C>A c.10564C>A (p.His3522Asn) c.718C>A (p.His240Asn) c.1920C>A c.1661C>A c.4055C>A (n.4055C>A) c.10438C>A (p.His3480Asn) n.4367C>A c.10567C>A (p.His3523Asn) | |
2 | g.73572441C>G | CA347283720 | ALMS1 | c.10183C>G (p.His3395Asp) c.3269C>G c.7464C>G c.4630C>G (p.His1544Asp) c.7509C>G c.10564C>G (p.His3522Asp) c.718C>G (p.His240Asp) c.1920C>G c.1661C>G c.4055C>G (n.4055C>G) c.10438C>G (p.His3480Asp) n.4367C>G c.10567C>G (p.His3523Asp) | |
2 | g.73572441C>T | CA347283723 | ALMS1 | c.10183C>T (p.His3395Tyr) c.3269C>T c.7464C>T c.4630C>T (p.His1544Tyr) c.7509C>T c.10564C>T (p.His3522Tyr) c.718C>T (p.His240Tyr) c.1920C>T c.1661C>T c.4055C>T (n.4055C>T) c.10438C>T (p.His3480Tyr) n.4367C>T c.10567C>T (p.His3523Tyr) | |
2 | g.73572441_73572443delinsCAT | CA1261021192 | ALMS1 | c.10183_10185delinsCAT (p.His3395=) c.3269_3271delinsCAT c.7464_7466delinsCAT c.4630_4632delinsCAT (p.His1544=) c.7509_7511delinsCAT c.10564_10566delinsCAT (p.His3522=) c.718_720delinsCAT (p.His240=) c.1920_1922delinsCAT c.1661_1663delinsCAT c.4055_4057delinsCAT (n.4055_4057delinsCAT) c.10438_10440delinsCAT (p.His3480=) n.4367_4369delinsCAT c.10567_10569delinsCAT (p.His3523=) | |
2 | g.73572442A>C | CA347283727 | ALMS1 | c.10184A>C (p.His3395Pro) c.3270A>C c.7465A>C c.4631A>C (p.His1544Pro) c.7510A>C c.10565A>C (p.His3522Pro) c.719A>C (p.His240Pro) c.1921A>C c.1662A>C c.4056A>C (n.4056A>C) c.10439A>C (p.His3480Pro) n.4368A>C c.10568A>C (p.His3523Pro) | |
2 | g.73572442A>G | CA347283726 | ALMS1 | c.10184A>G (p.His3395Arg) c.3270A>G c.7465A>G c.4631A>G (p.His1544Arg) c.7510A>G c.10565A>G (p.His3522Arg) c.719A>G (p.His240Arg) c.1921A>G c.1662A>G c.4056A>G (n.4056A>G) c.10439A>G (p.His3480Arg) n.4368A>G c.10568A>G (p.His3523Arg) | ClinVar gnomAD v4 |
2 | g.73572442A>T | CA347283725 | ALMS1 | c.10184A>T (p.His3395Leu) c.3270A>T c.7465A>T c.4631A>T (p.His1544Leu) c.7510A>T c.10565A>T (p.His3522Leu) c.719A>T (p.His240Leu) c.1921A>T c.1662A>T c.4056A>T (n.4056A>T) c.10439A>T (p.His3480Leu) n.4368A>T c.10568A>T (p.His3523Leu) | |
2 | g.73572443_73572444del | CA534124643 | ALMS1 | c.10185_10186del (p.His3395GlnfsTer17) c.3271_3272del c.7466_7467del c.4632_4633del (p.His1544GlnfsTer17) c.7511_7512del c.10566_10567del (p.His3522GlnfsTer17) c.720_721del (p.His240GlnfsTer17) c.1922_1923del c.1663_1664del c.4057_4058del (n.4057_4058del) c.10440_10441del (p.His3480GlnfsTer17) n.4369_4370del c.10569_10570del (p.His3523GlnfsTer17) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572443T>A | CA347283729 | ALMS1 | c.10185T>A (p.His3395Gln) c.3271T>A c.7466T>A c.4632T>A (p.His1544Gln) c.7511T>A c.10566T>A (p.His3522Gln) c.720T>A (p.His240Gln) c.1922T>A c.1663T>A c.4057T>A (n.4057T>A) c.10440T>A (p.His3480Gln) n.4369T>A c.10569T>A (p.His3523Gln) | |
2 | g.73572443T>C | CA1715026 | ALMS1 | c.10185T>C (p.His3395=) c.3271T>C c.7466T>C c.4632T>C (p.His1544=) c.7511T>C c.10566T>C (p.His3522=) c.720T>C (p.His240=) c.1922T>C c.1663T>C c.4057T>C (n.4057T>C) c.10440T>C (p.His3480=) n.4369T>C c.10569T>C (p.His3523=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572443T>G | CA1715025 | ALMS1 | c.10185T>G (p.His3395Gln) c.3271T>G c.7466T>G c.4632T>G (p.His1544Gln) c.7511T>G c.10566T>G (p.His3522Gln) c.720T>G (p.His240Gln) c.1922T>G c.1663T>G c.4057T>G (n.4057T>G) c.10440T>G (p.His3480Gln) n.4369T>G c.10569T>G (p.His3523Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572443T= | CA1261021197 | ALMS1 | c.10185T= (p.His3395=) c.3271T= c.7466T= c.4632T= (p.His1544=) c.7511T= c.10566T= (p.His3522=) c.720T= (p.His240=) c.1922T= c.1663T= c.4057T= (n.4057T=) c.10440T= (p.His3480=) n.4369T= c.10569T= (p.His3523=) | |
2 | g.73572444A>C | CA427024704 | ALMS1 | c.10186A>C (p.Arg3396=) c.3272A>C c.7467A>C c.4633A>C (p.Arg1545=) c.7512A>C c.10567A>C (p.Arg3523=) c.721A>C (p.Arg241=) c.1923A>C c.1664A>C c.4058A>C (n.4058A>C) c.10441A>C (p.Arg3481=) n.4370A>C c.10570A>C (p.Arg3524=) | |
2 | g.73572444A>G | CA347283743 | ALMS1 | c.10186A>G (p.Arg3396Gly) c.3272A>G c.7467A>G c.4633A>G (p.Arg1545Gly) c.7512A>G c.10567A>G (p.Arg3523Gly) c.721A>G (p.Arg241Gly) c.1923A>G c.1664A>G c.4058A>G (n.4058A>G) c.10441A>G (p.Arg3481Gly) n.4370A>G c.10570A>G (p.Arg3524Gly) | gnomAD v4 |
2 | g.73572444A>T | CA347283749 | ALMS1 | c.10186A>T (p.Arg3396Ter) c.3272A>T c.7467A>T c.4633A>T (p.Arg1545Ter) c.7512A>T c.10567A>T (p.Arg3523Ter) c.721A>T (p.Arg241Ter) c.1923A>T c.1664A>T c.4058A>T (n.4058A>T) c.10441A>T (p.Arg3481Ter) n.4370A>T c.10570A>T (p.Arg3524Ter) | |
2 | g.73572447_73572448del | CA2580611329 | ALMS1 | c.10189_10190del (p.Glu3397ThrfsTer15) c.3275_3276del c.7470_7471del c.4636_4637del (p.Glu1546ThrfsTer15) c.7515_7516del c.10570_10571del (p.Glu3524ThrfsTer15) c.724_725del (p.Glu242ThrfsTer15) c.1926_1927del c.1667_1668del c.4061_4062del (n.4061_4062del) c.10444_10445del (p.Glu3482ThrfsTer15) n.4373_4374del c.10573_10574del (p.Glu3525ThrfsTer15) | ClinVar dbSNP |