Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
2 | g.73572445G>A | CA347283752 | ALMS1 | c.10187G>A (p.Arg3396Lys) c.3273G>A c.7468G>A c.4634G>A (p.Arg1545Lys) c.7513G>A c.10568G>A (p.Arg3523Lys) c.722G>A (p.Arg241Lys) c.1924G>A c.1665G>A c.4059G>A (n.4059G>A) c.10442G>A (p.Arg3481Lys) n.4371G>A c.10571G>A (p.Arg3524Lys) | |
2 | g.73572445G>C | CA347283754 | ALMS1 | c.10187G>C (p.Arg3396Thr) c.3273G>C c.7468G>C c.4634G>C (p.Arg1545Thr) c.7513G>C c.10568G>C (p.Arg3523Thr) c.722G>C (p.Arg241Thr) c.1924G>C c.1665G>C c.4059G>C (n.4059G>C) c.10442G>C (p.Arg3481Thr) n.4371G>C c.10571G>C (p.Arg3524Thr) | |
2 | g.73572445G>T | CA347283757 | ALMS1 | c.10187G>T (p.Arg3396Ile) c.3273G>T c.7468G>T c.4634G>T (p.Arg1545Ile) c.7513G>T c.10568G>T (p.Arg3523Ile) c.722G>T (p.Arg241Ile) c.1924G>T c.1665G>T c.4059G>T (n.4059G>T) c.10442G>T (p.Arg3481Ile) n.4371G>T c.10571G>T (p.Arg3524Ile) | gnomAD v4 |
2 | g.73572446A>C | CA347283761 | ALMS1 | c.10188A>C (p.Arg3396Ser) c.3274A>C c.7469A>C c.4635A>C (p.Arg1545Ser) c.7514A>C c.10569A>C (p.Arg3523Ser) c.723A>C (p.Arg241Ser) c.1925A>C c.1666A>C c.4060A>C (n.4060A>C) c.10443A>C (p.Arg3481Ser) n.4372A>C c.10572A>C (p.Arg3524Ser) | |
2 | g.73572446A>G | CA427024706 | ALMS1 | c.10188A>G (p.Arg3396=) c.3274A>G c.7469A>G c.4635A>G (p.Arg1545=) c.7514A>G c.10569A>G (p.Arg3523=) c.723A>G (p.Arg241=) c.1925A>G c.1666A>G c.4060A>G (n.4060A>G) c.10443A>G (p.Arg3481=) n.4372A>G c.10572A>G (p.Arg3524=) | ClinVar |
2 | g.73572446A>T | CA347283764 | ALMS1 | c.10188A>T (p.Arg3396Ser) c.3274A>T c.7469A>T c.4635A>T (p.Arg1545Ser) c.7514A>T c.10569A>T (p.Arg3523Ser) c.723A>T (p.Arg241Ser) c.1925A>T c.1666A>T c.4060A>T (n.4060A>T) c.10443A>T (p.Arg3481Ser) n.4372A>T c.10572A>T (p.Arg3524Ser) | |
2 | g.73572447G>A | CA1715027 | ALMS1 | c.10189G>A (p.Glu3397Lys) c.3275G>A c.7470G>A c.4636G>A (p.Glu1546Lys) c.7515G>A c.10570G>A (p.Glu3524Lys) c.724G>A (p.Glu242Lys) c.1926G>A c.1667G>A c.4061G>A (n.4061G>A) c.10444G>A (p.Glu3482Lys) n.4373G>A c.10573G>A (p.Glu3525Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572447G>C | CA347283765 | ALMS1 | c.10189G>C (p.Glu3397Gln) c.3275G>C c.7470G>C c.4636G>C (p.Glu1546Gln) c.7515G>C c.10570G>C (p.Glu3524Gln) c.724G>C (p.Glu242Gln) c.1926G>C c.1667G>C c.4061G>C (n.4061G>C) c.10444G>C (p.Glu3482Gln) n.4373G>C c.10573G>C (p.Glu3525Gln) | |
2 | g.73572447G= | CA1261021201 | ALMS1 | c.10189G= (p.Glu3397=) c.3275G= c.7470G= c.4636G= (p.Glu1546=) c.7515G= c.10570G= (p.Glu3524=) c.724G= (p.Glu242=) c.1926G= c.1667G= c.4061G= (n.4061G=) c.10444G= (p.Glu3482=) n.4373G= c.10573G= (p.Glu3525=) | |
2 | g.73572447G>T | CA347283768 | ALMS1 | c.10189G>T (p.Glu3397Ter) c.3275G>T c.7470G>T c.4636G>T (p.Glu1546Ter) c.7515G>T c.10570G>T (p.Glu3524Ter) c.724G>T (p.Glu242Ter) c.1926G>T c.1667G>T c.4061G>T (n.4061G>T) c.10444G>T (p.Glu3482Ter) n.4373G>T c.10573G>T (p.Glu3525Ter) | |
2 | g.73572448A>C | CA347283773 | ALMS1 | c.10190A>C (p.Glu3397Ala) c.3276A>C c.7471A>C c.4637A>C (p.Glu1546Ala) c.7516A>C c.10571A>C (p.Glu3524Ala) c.725A>C (p.Glu242Ala) c.1927A>C c.1668A>C c.4062A>C (n.4062A>C) c.10445A>C (p.Glu3482Ala) n.4374A>C c.10574A>C (p.Glu3525Ala) | |
2 | g.73572448A>G | CA347283776 | ALMS1 | c.10190A>G (p.Glu3397Gly) c.3276A>G c.7471A>G c.4637A>G (p.Glu1546Gly) c.7516A>G c.10571A>G (p.Glu3524Gly) c.725A>G (p.Glu242Gly) c.1927A>G c.1668A>G c.4062A>G (n.4062A>G) c.10445A>G (p.Glu3482Gly) n.4374A>G c.10574A>G (p.Glu3525Gly) | |
2 | g.73572448A>T | CA347283771 | ALMS1 | c.10190A>T (p.Glu3397Val) c.3276A>T c.7471A>T c.4637A>T (p.Glu1546Val) c.7516A>T c.10571A>T (p.Glu3524Val) c.725A>T (p.Glu242Val) c.1927A>T c.1668A>T c.4062A>T (n.4062A>T) c.10445A>T (p.Glu3482Val) n.4374A>T c.10574A>T (p.Glu3525Val) | |
2 | g.73572449A= | CA1261021207 | ALMS1 | c.10191A= (p.Glu3397=) c.3277A= c.7472A= c.4638A= (p.Glu1546=) c.7517A= c.10572A= (p.Glu3524=) c.726A= (p.Glu242=) c.1928A= c.1669A= c.4063A= (n.4063A=) c.10446A= (p.Glu3482=) n.4375A= c.10575A= (p.Glu3525=) | |
2 | g.73572449A>C | CA347283778 | ALMS1 | c.10191A>C (p.Glu3397Asp) c.3277A>C c.7472A>C c.4638A>C (p.Glu1546Asp) c.7517A>C c.10572A>C (p.Glu3524Asp) c.726A>C (p.Glu242Asp) c.1928A>C c.1669A>C c.4063A>C (n.4063A>C) c.10446A>C (p.Glu3482Asp) n.4375A>C c.10575A>C (p.Glu3525Asp) | |
2 | g.73572449A>G | CA427024711 | ALMS1 | c.10191A>G (p.Glu3397=) c.3277A>G c.7472A>G c.4638A>G (p.Glu1546=) c.7517A>G c.10572A>G (p.Glu3524=) c.726A>G (p.Glu242=) c.1928A>G c.1669A>G c.4063A>G (n.4063A>G) c.10446A>G (p.Glu3482=) n.4375A>G c.10575A>G (p.Glu3525=) | ClinVar dbSNP gnomAD v4 |
2 | g.73572449A>T | CA347283781 | ALMS1 | c.10191A>T (p.Glu3397Asp) c.3277A>T c.7472A>T c.4638A>T (p.Glu1546Asp) c.7517A>T c.10572A>T (p.Glu3524Asp) c.726A>T (p.Glu242Asp) c.1928A>T c.1669A>T c.4063A>T (n.4063A>T) c.10446A>T (p.Glu3482Asp) n.4375A>T c.10575A>T (p.Glu3525Asp) | |
2 | g.73572450C>A | CA347283785 | ALMS1 | c.10192C>A (p.His3398Asn) c.3278C>A c.7473C>A c.4639C>A (p.His1547Asn) c.7518C>A c.10573C>A (p.His3525Asn) c.727C>A (p.His243Asn) c.1929C>A c.1670C>A c.4064C>A (n.4064C>A) c.10447C>A (p.His3483Asn) n.4376C>A c.10576C>A (p.His3526Asn) | |
2 | g.73572450C= | CA1261021208 | ALMS1 | c.10192C= (p.His3398=) c.3278C= c.7473C= c.4639C= (p.His1547=) c.7518C= c.10573C= (p.His3525=) c.727C= (p.His243=) c.1929C= c.1670C= c.4064C= (n.4064C=) c.10447C= (p.His3483=) n.4376C= c.10576C= (p.His3526=) | |
2 | g.73572450C>G | CA347283788 | ALMS1 | c.10192C>G (p.His3398Asp) c.3278C>G c.7473C>G c.4639C>G (p.His1547Asp) c.7518C>G c.10573C>G (p.His3525Asp) c.727C>G (p.His243Asp) c.1929C>G c.1670C>G c.4064C>G (n.4064C>G) c.10447C>G (p.His3483Asp) n.4376C>G c.10576C>G (p.His3526Asp) | |
2 | g.73572450C>T | CA1715028 | ALMS1 | c.10192C>T (p.His3398Tyr) c.3278C>T c.7473C>T c.4639C>T (p.His1547Tyr) c.7518C>T c.10573C>T (p.His3525Tyr) c.727C>T (p.His243Tyr) c.1929C>T c.1670C>T c.4064C>T (n.4064C>T) c.10447C>T (p.His3483Tyr) n.4376C>T c.10576C>T (p.His3526Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572451A>C | CA347283807 | ALMS1 | c.10193A>C (p.His3398Pro) c.3279A>C c.7474A>C c.4640A>C (p.His1547Pro) c.7519A>C c.10574A>C (p.His3525Pro) c.728A>C (p.His243Pro) c.1930A>C c.1671A>C c.4065A>C (n.4065A>C) c.10448A>C (p.His3483Pro) n.4377A>C c.10577A>C (p.His3526Pro) | |
2 | g.73572451A>G | CA347283809 | ALMS1 | c.10193A>G (p.His3398Arg) c.3279A>G c.7474A>G c.4640A>G (p.His1547Arg) c.7519A>G c.10574A>G (p.His3525Arg) c.728A>G (p.His243Arg) c.1930A>G c.1671A>G c.4065A>G (n.4065A>G) c.10448A>G (p.His3483Arg) n.4377A>G c.10577A>G (p.His3526Arg) | |
2 | g.73572451A>T | CA347283814 | ALMS1 | c.10193A>T (p.His3398Leu) c.3279A>T c.7474A>T c.4640A>T (p.His1547Leu) c.7519A>T c.10574A>T (p.His3525Leu) c.728A>T (p.His243Leu) c.1930A>T c.1671A>T c.4065A>T (n.4065A>T) c.10448A>T (p.His3483Leu) n.4377A>T c.10577A>T (p.His3526Leu) | |
2 | g.73572456_73572482del | CA2554183417 | ALMS1 | c.10198_10224del (p.Cys3400_Met3408del) c.3284_3310del c.7479_7505del c.4645_4671del (p.Cys1549_Met1557del) c.7524_7550del c.10579_10605del (p.Cys3527_Met3535del) c.733_759del (p.Cys245_Met253del) c.1935_1961del c.1676_1702del c.4070_4096del (n.4070_4096del) c.10453_10479del (p.Cys3485_Met3493del) n.4382_4408del c.10582_10608del (p.Cys3528_Met3536del) | |
2 | g.73572452C>A | CA347283821 | ALMS1 | c.10194C>A (p.His3398Gln) c.3280C>A c.7475C>A c.4641C>A (p.His1547Gln) c.7520C>A c.10575C>A (p.His3525Gln) c.729C>A (p.His243Gln) c.1931C>A c.1672C>A c.4066C>A (n.4066C>A) c.10449C>A (p.His3483Gln) n.4378C>A c.10578C>A (p.His3526Gln) | ClinVar dbSNP |
2 | g.73572452C= | CA1261021210 | ALMS1 | c.10194C= (p.His3398=) c.3280C= c.7475C= c.4641C= (p.His1547=) c.7520C= c.10575C= (p.His3525=) c.729C= (p.His243=) c.1931C= c.1672C= c.4066C= (n.4066C=) c.10449C= (p.His3483=) n.4378C= c.10578C= (p.His3526=) | |
2 | g.73572452C>G | CA347283823 | ALMS1 | c.10194C>G (p.His3398Gln) c.3280C>G c.7475C>G c.4641C>G (p.His1547Gln) c.7520C>G c.10575C>G (p.His3525Gln) c.729C>G (p.His243Gln) c.1931C>G c.1672C>G c.4066C>G (n.4066C>G) c.10449C>G (p.His3483Gln) n.4378C>G c.10578C>G (p.His3526Gln) | |
2 | g.73572452C>T | CA427024736 | ALMS1 | c.10194C>T (p.His3398=) c.3280C>T c.7475C>T c.4641C>T (p.His1547=) c.7520C>T c.10575C>T (p.His3525=) c.729C>T (p.His243=) c.1931C>T c.1672C>T c.4066C>T (n.4066C>T) c.10449C>T (p.His3483=) n.4378C>T c.10578C>T (p.His3526=) | |
2 | g.73572452_73572454delinsCAT | CA1261021209 | ALMS1 | c.10194_10196delinsCAT (p.His3398=) c.3280_3282delinsCAT c.7475_7477delinsCAT c.4641_4643delinsCAT (p.His1547=) c.7520_7522delinsCAT c.10575_10577delinsCAT (p.His3525=) c.729_731delinsCAT (p.His243=) c.1931_1933delinsCAT c.1672_1674delinsCAT c.4066_4068delinsCAT (n.4066_4068delinsCAT) c.10449_10451delinsCAT (p.His3483=) n.4378_4380delinsCAT c.10578_10580delinsCAT (p.His3526=) | |
2 | g.73572453A>C | CA347283830 | ALMS1 | c.10195A>C (p.Met3399Leu) c.3281A>C c.7476A>C c.4642A>C (p.Met1548Leu) c.7521A>C c.10576A>C (p.Met3526Leu) c.730A>C (p.Met244Leu) c.1932A>C c.1673A>C c.4067A>C (n.4067A>C) c.10450A>C (p.Met3484Leu) n.4379A>C c.10579A>C (p.Met3527Leu) | gnomAD v4 |
2 | g.73572453A>G | CA347283833 | ALMS1 | c.10195A>G (p.Met3399Val) c.3281A>G c.7476A>G c.4642A>G (p.Met1548Val) c.7521A>G c.10576A>G (p.Met3526Val) c.730A>G (p.Met244Val) c.1932A>G c.1673A>G c.4067A>G (n.4067A>G) c.10450A>G (p.Met3484Val) n.4379A>G c.10579A>G (p.Met3527Val) | gnomAD v4 |
2 | g.73572453A>T | CA347283843 | ALMS1 | c.10195A>T (p.Met3399Leu) c.3281A>T c.7476A>T c.4642A>T (p.Met1548Leu) c.7521A>T c.10576A>T (p.Met3526Leu) c.730A>T (p.Met244Leu) c.1932A>T c.1673A>T c.4067A>T (n.4067A>T) c.10450A>T (p.Met3484Leu) n.4379A>T c.10579A>T (p.Met3527Leu) | gnomAD v4 |
2 | g.73572453_73572454del | CA1715029 | ALMS1 | c.10195_10196del (p.Met3399ValfsTer13) c.3281_3282del c.7476_7477del c.4642_4643del (p.Met1548ValfsTer13) c.7521_7522del c.10576_10577del (p.Met3526ValfsTer13) c.730_731del (p.Met244ValfsTer13) c.1932_1933del c.1673_1674del c.4067_4068del (n.4067_4068del) c.10450_10451del (p.Met3484ValfsTer13) n.4379_4380del c.10579_10580del (p.Met3527ValfsTer13) | dbSNP ExAC gnomAD v2 |
2 | g.73572454T>A | CA347283855 | ALMS1 | c.10196T>A (p.Met3399Lys) c.3282T>A c.7477T>A c.4643T>A (p.Met1548Lys) c.7522T>A c.10577T>A (p.Met3526Lys) c.731T>A (p.Met244Lys) c.1933T>A c.1674T>A c.4068T>A (n.4068T>A) c.10451T>A (p.Met3484Lys) n.4380T>A c.10580T>A (p.Met3527Lys) | |
2 | g.73572454T>C | CA347283849 | ALMS1 | c.10196T>C (p.Met3399Thr) c.3282T>C c.7477T>C c.4643T>C (p.Met1548Thr) c.7522T>C c.10577T>C (p.Met3526Thr) c.731T>C (p.Met244Thr) c.1933T>C c.1674T>C c.4068T>C (n.4068T>C) c.10451T>C (p.Met3484Thr) n.4380T>C c.10580T>C (p.Met3527Thr) | |
2 | g.73572454T>G | CA347283852 | ALMS1 | c.10196T>G (p.Met3399Arg) c.3282T>G c.7477T>G c.4643T>G (p.Met1548Arg) c.7522T>G c.10577T>G (p.Met3526Arg) c.731T>G (p.Met244Arg) c.1933T>G c.1674T>G c.4068T>G (n.4068T>G) c.10451T>G (p.Met3484Arg) n.4380T>G c.10580T>G (p.Met3527Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572454T= | CA1261021215 | ALMS1 | c.10196T= (p.Met3399=) c.3282T= c.7477T= c.4643T= (p.Met1548=) c.7522T= c.10577T= (p.Met3526=) c.731T= (p.Met244=) c.1933T= c.1674T= c.4068T= (n.4068T=) c.10451T= (p.Met3484=) n.4380T= c.10580T= (p.Met3527=) | |
2 | g.73572455del | CA2499216269 | ALMS1 | c.10197del (p.Met3399IlefsTer20) c.3283del c.7478del c.4644del (p.Met1548IlefsTer20) c.7523del c.10578del (p.Met3526IlefsTer20) c.732del (p.Met244IlefsTer20) c.1934del c.1675del c.4069del (n.4069del) c.10452del (p.Met3484IlefsTer20) n.4381del c.10581del (p.Met3527IlefsTer20) | ClinVar dbSNP gnomAD v4 |
2 | g.73572455G>A | CA1715030 | ALMS1 | c.10197G>A (p.Met3399Ile) c.3283G>A c.7478G>A c.4644G>A (p.Met1548Ile) c.7523G>A c.10578G>A (p.Met3526Ile) c.732G>A (p.Met244Ile) c.1934G>A c.1675G>A c.4069G>A (n.4069G>A) c.10452G>A (p.Met3484Ile) n.4381G>A c.10581G>A (p.Met3527Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572455G>C | CA347283861 | ALMS1 | c.10197G>C (p.Met3399Ile) c.3283G>C c.7478G>C c.4644G>C (p.Met1548Ile) c.7523G>C c.10578G>C (p.Met3526Ile) c.732G>C (p.Met244Ile) c.1934G>C c.1675G>C c.4069G>C (n.4069G>C) c.10452G>C (p.Met3484Ile) n.4381G>C c.10581G>C (p.Met3527Ile) | ClinVar |
2 | g.73572455G= | CA1261021217 | ALMS1 | c.10197G= (p.Met3399=) c.3283G= c.7478G= c.4644G= (p.Met1548=) c.7523G= c.10578G= (p.Met3526=) c.732G= (p.Met244=) c.1934G= c.1675G= c.4069G= (n.4069G=) c.10452G= (p.Met3484=) n.4381G= c.10581G= (p.Met3527=) | |
2 | g.73572455G>T | CA347283865 | ALMS1 | c.10197G>T (p.Met3399Ile) c.3283G>T c.7478G>T c.4644G>T (p.Met1548Ile) c.7523G>T c.10578G>T (p.Met3526Ile) c.732G>T (p.Met244Ile) c.1934G>T c.1675G>T c.4069G>T (n.4069G>T) c.10452G>T (p.Met3484Ile) n.4381G>T c.10581G>T (p.Met3527Ile) | |
2 | g.73572456T>A | CA347283868 | ALMS1 | c.10198T>A (p.Cys3400Ser) c.3284T>A c.7479T>A c.4645T>A (p.Cys1549Ser) c.7524T>A c.10579T>A (p.Cys3527Ser) c.733T>A (p.Cys245Ser) c.1935T>A c.1676T>A c.4070T>A (n.4070T>A) c.10453T>A (p.Cys3485Ser) n.4382T>A c.10582T>A (p.Cys3528Ser) | |
2 | g.73572456T>C | CA347283872 | ALMS1 | c.10198T>C (p.Cys3400Arg) c.3284T>C c.7479T>C c.4645T>C (p.Cys1549Arg) c.7524T>C c.10579T>C (p.Cys3527Arg) c.733T>C (p.Cys245Arg) c.1935T>C c.1676T>C c.4070T>C (n.4070T>C) c.10453T>C (p.Cys3485Arg) n.4382T>C c.10582T>C (p.Cys3528Arg) | |
2 | g.73572456T>G | CA347283882 | ALMS1 | c.10198T>G (p.Cys3400Gly) c.3284T>G c.7479T>G c.4645T>G (p.Cys1549Gly) c.7524T>G c.10579T>G (p.Cys3527Gly) c.733T>G (p.Cys245Gly) c.1935T>G c.1676T>G c.4070T>G (n.4070T>G) c.10453T>G (p.Cys3485Gly) n.4382T>G c.10582T>G (p.Cys3528Gly) | |
2 | g.73572457G>A | CA347283887 | ALMS1 | c.10199G>A (p.Cys3400Tyr) c.3285G>A c.7480G>A c.4646G>A (p.Cys1549Tyr) c.7525G>A c.10580G>A (p.Cys3527Tyr) c.734G>A (p.Cys245Tyr) c.1936G>A c.1677G>A c.4071G>A (n.4071G>A) c.10454G>A (p.Cys3485Tyr) n.4383G>A c.10583G>A (p.Cys3528Tyr) | |
2 | g.73572457G>C | CA347283893 | ALMS1 | c.10199G>C (p.Cys3400Ser) c.3285G>C c.7480G>C c.4646G>C (p.Cys1549Ser) c.7525G>C c.10580G>C (p.Cys3527Ser) c.734G>C (p.Cys245Ser) c.1936G>C c.1677G>C c.4071G>C (n.4071G>C) c.10454G>C (p.Cys3485Ser) n.4383G>C c.10583G>C (p.Cys3528Ser) | |
2 | g.73572457G>T | CA347283896 | ALMS1 | c.10199G>T (p.Cys3400Phe) c.3285G>T c.7480G>T c.4646G>T (p.Cys1549Phe) c.7525G>T c.10580G>T (p.Cys3527Phe) c.734G>T (p.Cys245Phe) c.1936G>T c.1677G>T c.4071G>T (n.4071G>T) c.10454G>T (p.Cys3485Phe) n.4383G>T c.10583G>T (p.Cys3528Phe) | |
2 | g.73572458T>A | CA347283899 | ALMS1 | c.10200T>A (p.Cys3400Ter) c.3286T>A c.7481T>A c.4647T>A (p.Cys1549Ter) c.7526T>A c.10581T>A (p.Cys3527Ter) c.735T>A (p.Cys245Ter) c.1937T>A c.1678T>A c.4072T>A (n.4072T>A) c.10455T>A (p.Cys3485Ter) n.4384T>A c.10584T>A (p.Cys3528Ter) | |
2 | g.73572458T>C | CA427024756 | ALMS1 | c.10200T>C (p.Cys3400=) c.3286T>C c.7481T>C c.4647T>C (p.Cys1549=) c.7526T>C c.10581T>C (p.Cys3527=) c.735T>C (p.Cys245=) c.1937T>C c.1678T>C c.4072T>C (n.4072T>C) c.10455T>C (p.Cys3485=) n.4384T>C c.10584T>C (p.Cys3528=) | |
2 | g.73572458T>G | CA347283901 | ALMS1 | c.10200T>G (p.Cys3400Trp) c.3286T>G c.7481T>G c.4647T>G (p.Cys1549Trp) c.7526T>G c.10581T>G (p.Cys3527Trp) c.735T>G (p.Cys245Trp) c.1937T>G c.1678T>G c.4072T>G (n.4072T>G) c.10455T>G (p.Cys3485Trp) n.4384T>G c.10584T>G (p.Cys3528Trp) | |
2 | g.73572459C>A | CA347283916 | ALMS1 | c.10201C>A (p.Leu3401Ile) c.3287C>A c.7482C>A c.4648C>A (p.Leu1550Ile) c.7527C>A c.10582C>A (p.Leu3528Ile) c.736C>A (p.Leu246Ile) c.1938C>A c.1679C>A c.4073C>A (n.4073C>A) c.10456C>A (p.Leu3486Ile) n.4385C>A c.10585C>A (p.Leu3529Ile) | |
2 | g.73572459C>G | CA347283913 | ALMS1 | c.10201C>G (p.Leu3401Val) c.3287C>G c.7482C>G c.4648C>G (p.Leu1550Val) c.7527C>G c.10582C>G (p.Leu3528Val) c.736C>G (p.Leu246Val) c.1938C>G c.1679C>G c.4073C>G (n.4073C>G) c.10456C>G (p.Leu3486Val) n.4385C>G c.10585C>G (p.Leu3529Val) | |
2 | g.73572459C>T | CA347283910 | ALMS1 | c.10201C>T (p.Leu3401Phe) c.3287C>T c.7482C>T c.4648C>T (p.Leu1550Phe) c.7527C>T c.10582C>T (p.Leu3528Phe) c.736C>T (p.Leu246Phe) c.1938C>T c.1679C>T c.4073C>T (n.4073C>T) c.10456C>T (p.Leu3486Phe) n.4385C>T c.10585C>T (p.Leu3529Phe) | gnomAD v4 |
2 | g.73572459dup | CA2659617082 | ALMS1 | c.10201dup (p.Leu3401ProfsTer12) c.3287dup c.7482dup c.4648dup (p.Leu1550ProfsTer12) c.7527dup c.10582dup (p.Leu3528ProfsTer12) c.736dup (p.Leu246ProfsTer12) c.1938dup c.1679dup c.4073dup (n.4073dup) c.10456dup (p.Leu3486ProfsTer12) n.4385dup c.10585dup (p.Leu3529ProfsTer12) | gnomAD v4 |
2 | g.73572460T>A | CA347283919 | ALMS1 | c.10202T>A (p.Leu3401His) c.3288T>A c.7483T>A c.4649T>A (p.Leu1550His) c.7528T>A c.10583T>A (p.Leu3528His) c.737T>A (p.Leu246His) c.1939T>A c.1680T>A c.4074T>A (n.4074T>A) c.10457T>A (p.Leu3486His) n.4386T>A c.10586T>A (p.Leu3529His) | |
2 | g.73572460T>C | CA347283923 | ALMS1 | c.10202T>C (p.Leu3401Pro) c.3288T>C c.7483T>C c.4649T>C (p.Leu1550Pro) c.7528T>C c.10583T>C (p.Leu3528Pro) c.737T>C (p.Leu246Pro) c.1939T>C c.1680T>C c.4074T>C (n.4074T>C) c.10457T>C (p.Leu3486Pro) n.4386T>C c.10586T>C (p.Leu3529Pro) | |
2 | g.73572460T>G | CA347283926 | ALMS1 | c.10202T>G (p.Leu3401Arg) c.3288T>G c.7483T>G c.4649T>G (p.Leu1550Arg) c.7528T>G c.10583T>G (p.Leu3528Arg) c.737T>G (p.Leu246Arg) c.1939T>G c.1680T>G c.4074T>G (n.4074T>G) c.10457T>G (p.Leu3486Arg) n.4386T>G c.10586T>G (p.Leu3529Arg) | |
2 | g.73572461T>A | CA427024763 | ALMS1 | c.10203T>A (p.Leu3401=) c.3289T>A c.7484T>A c.4650T>A (p.Leu1550=) c.7529T>A c.10584T>A (p.Leu3528=) c.738T>A (p.Leu246=) c.1940T>A c.1681T>A c.4075T>A (n.4075T>A) c.10458T>A (p.Leu3486=) n.4387T>A c.10587T>A (p.Leu3529=) | |
2 | g.73572461T>C | CA427024765 | ALMS1 | c.10203T>C (p.Leu3401=) c.3289T>C c.7484T>C c.4650T>C (p.Leu1550=) c.7529T>C c.10584T>C (p.Leu3528=) c.738T>C (p.Leu246=) c.1940T>C c.1681T>C c.4075T>C (n.4075T>C) c.10458T>C (p.Leu3486=) n.4387T>C c.10587T>C (p.Leu3529=) | |
2 | g.73572461T>G | CA427024766 | ALMS1 | c.10203T>G (p.Leu3401=) c.3289T>G c.7484T>G c.4650T>G (p.Leu1550=) c.7529T>G c.10584T>G (p.Leu3528=) c.738T>G (p.Leu246=) c.1940T>G c.1681T>G c.4075T>G (n.4075T>G) c.10458T>G (p.Leu3486=) n.4387T>G c.10587T>G (p.Leu3529=) | |
2 | g.73572462C>A | CA347283931 | ALMS1 | c.10204C>A (p.Pro3402Thr) c.3290C>A c.7485C>A c.4651C>A (p.Pro1551Thr) c.7530C>A c.10585C>A (p.Pro3529Thr) c.739C>A (p.Pro247Thr) c.1941C>A c.1682C>A c.4076C>A (n.4076C>A) c.10459C>A (p.Pro3487Thr) n.4388C>A c.10588C>A (p.Pro3530Thr) | |
2 | g.73572462C>G | CA347283933 | ALMS1 | c.10204C>G (p.Pro3402Ala) c.3290C>G c.7485C>G c.4651C>G (p.Pro1551Ala) c.7530C>G c.10585C>G (p.Pro3529Ala) c.739C>G (p.Pro247Ala) c.1941C>G c.1682C>G c.4076C>G (n.4076C>G) c.10459C>G (p.Pro3487Ala) n.4388C>G c.10588C>G (p.Pro3530Ala) | |
2 | g.73572462C>T | CA347283936 | ALMS1 | c.10204C>T (p.Pro3402Ser) c.3290C>T c.7485C>T c.4651C>T (p.Pro1551Ser) c.7530C>T c.10585C>T (p.Pro3529Ser) c.739C>T (p.Pro247Ser) c.1941C>T c.1682C>T c.4076C>T (n.4076C>T) c.10459C>T (p.Pro3487Ser) n.4388C>T c.10588C>T (p.Pro3530Ser) | |
2 | g.73572463C>A | CA347283939 | ALMS1 | c.10205C>A (p.Pro3402His) c.3291C>A c.7486C>A c.4652C>A (p.Pro1551His) c.7531C>A c.10586C>A (p.Pro3529His) c.740C>A (p.Pro247His) c.1942C>A c.1683C>A c.4077C>A (n.4077C>A) c.10460C>A (p.Pro3487His) n.4389C>A c.10589C>A (p.Pro3530His) | |
2 | g.73572463C= | CA1261021219 | ALMS1 | c.10205C= (p.Pro3402=) c.3291C= c.7486C= c.4652C= (p.Pro1551=) c.7531C= c.10586C= (p.Pro3529=) c.740C= (p.Pro247=) c.1942C= c.1683C= c.4077C= (n.4077C=) c.10460C= (p.Pro3487=) n.4389C= c.10589C= (p.Pro3530=) | |
2 | g.73572463C>G | CA1715031 | ALMS1 | c.10205C>G (p.Pro3402Arg) c.3291C>G c.7486C>G c.4652C>G (p.Pro1551Arg) c.7531C>G c.10586C>G (p.Pro3529Arg) c.740C>G (p.Pro247Arg) c.1942C>G c.1683C>G c.4077C>G (n.4077C>G) c.10460C>G (p.Pro3487Arg) n.4389C>G c.10589C>G (p.Pro3530Arg) | dbSNP ExAC gnomAD v2 |
2 | g.73572463C>T | CA347283944 | ALMS1 | c.10205C>T (p.Pro3402Leu) c.3291C>T c.7486C>T c.4652C>T (p.Pro1551Leu) c.7531C>T c.10586C>T (p.Pro3529Leu) c.740C>T (p.Pro247Leu) c.1942C>T c.1683C>T c.4077C>T (n.4077C>T) c.10460C>T (p.Pro3487Leu) n.4389C>T c.10589C>T (p.Pro3530Leu) | dbSNP gnomAD v4 |
2 | g.73572464T>A | CA427024772 | ALMS1 | c.10206T>A (p.Pro3402=) c.3292T>A c.7487T>A c.4653T>A (p.Pro1551=) c.7532T>A c.10587T>A (p.Pro3529=) c.741T>A (p.Pro247=) c.1943T>A c.1684T>A c.4078T>A (n.4078T>A) c.10461T>A (p.Pro3487=) n.4390T>A c.10590T>A (p.Pro3530=) | |
2 | g.73572464T>C | CA427024776 | ALMS1 | c.10206T>C (p.Pro3402=) c.3292T>C c.7487T>C c.4653T>C (p.Pro1551=) c.7532T>C c.10587T>C (p.Pro3529=) c.741T>C (p.Pro247=) c.1943T>C c.1684T>C c.4078T>C (n.4078T>C) c.10461T>C (p.Pro3487=) n.4390T>C c.10590T>C (p.Pro3530=) | dbSNP |
2 | g.73572464T>G | CA427024779 | ALMS1 | c.10206T>G (p.Pro3402=) c.3292T>G c.7487T>G c.4653T>G (p.Pro1551=) c.7532T>G c.10587T>G (p.Pro3529=) c.741T>G (p.Pro247=) c.1943T>G c.1684T>G c.4078T>G (n.4078T>G) c.10461T>G (p.Pro3487=) n.4390T>G c.10590T>G (p.Pro3530=) | |
2 | g.73572464T= | CA1261021220 | ALMS1 | c.10206T= (p.Pro3402=) c.3292T= c.7487T= c.4653T= (p.Pro1551=) c.7532T= c.10587T= (p.Pro3529=) c.741T= (p.Pro247=) c.1943T= c.1684T= c.4078T= (n.4078T=) c.10461T= (p.Pro3487=) n.4390T= c.10590T= (p.Pro3530=) | |
2 | g.73572465C>A | CA347283948 | ALMS1 | c.10207C>A (p.Leu3403Ile) c.3293C>A c.7488C>A c.4654C>A (p.Leu1552Ile) c.7533C>A c.10588C>A (p.Leu3530Ile) c.742C>A (p.Leu248Ile) c.1944C>A c.1685C>A c.4079C>A (n.4079C>A) c.10462C>A (p.Leu3488Ile) n.4391C>A c.10591C>A (p.Leu3531Ile) | |
2 | g.73572465C= | CA1261021221 | ALMS1 | c.10207C= (p.Leu3403=) c.3293C= c.7488C= c.4654C= (p.Leu1552=) c.7533C= c.10588C= (p.Leu3530=) c.742C= (p.Leu248=) c.1944C= c.1685C= c.4079C= (n.4079C=) c.10462C= (p.Leu3488=) n.4391C= c.10591C= (p.Leu3531=) | |
2 | g.73572465C>G | CA347283951 | ALMS1 | c.10207C>G (p.Leu3403Val) c.3293C>G c.7488C>G c.4654C>G (p.Leu1552Val) c.7533C>G c.10588C>G (p.Leu3530Val) c.742C>G (p.Leu248Val) c.1944C>G c.1685C>G c.4079C>G (n.4079C>G) c.10462C>G (p.Leu3488Val) n.4391C>G c.10591C>G (p.Leu3531Val) | ClinVar |
2 | g.73572465C>T | CA1715032 | ALMS1 | c.10207C>T (p.Leu3403Phe) c.3293C>T c.7488C>T c.4654C>T (p.Leu1552Phe) c.7533C>T c.10588C>T (p.Leu3530Phe) c.742C>T (p.Leu248Phe) c.1944C>T c.1685C>T c.4079C>T (n.4079C>T) c.10462C>T (p.Leu3488Phe) n.4391C>T c.10591C>T (p.Leu3531Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572468_73572471del | CA2739271094 | ALMS1 | c.10210_10213del (p.Pro3404IlefsTer14) c.3296_3299del c.7491_7494del c.4657_4660del (p.Pro1553IlefsTer14) c.7536_7539del c.10591_10594del (p.Pro3531IlefsTer14) c.745_748del (p.Pro249IlefsTer14) c.1947_1950del c.1688_1691del c.4082_4085del (n.4082_4085del) c.10465_10468del (p.Pro3489IlefsTer14) n.4394_4397del c.10594_10597del (p.Pro3532IlefsTer14) | ClinVar |
2 | g.73572466T>A | CA347283963 | ALMS1 | c.10208T>A (p.Leu3403His) c.3294T>A c.7489T>A c.4655T>A (p.Leu1552His) c.7534T>A c.10589T>A (p.Leu3530His) c.743T>A (p.Leu248His) c.1945T>A c.1686T>A c.4080T>A (n.4080T>A) c.10463T>A (p.Leu3488His) n.4392T>A c.10592T>A (p.Leu3531His) | |
2 | g.73572466T>C | CA347283960 | ALMS1 | c.10208T>C (p.Leu3403Pro) c.3294T>C c.7489T>C c.4655T>C (p.Leu1552Pro) c.7534T>C c.10589T>C (p.Leu3530Pro) c.743T>C (p.Leu248Pro) c.1945T>C c.1686T>C c.4080T>C (n.4080T>C) c.10463T>C (p.Leu3488Pro) n.4392T>C c.10592T>C (p.Leu3531Pro) | |
2 | g.73572466T>G | CA347283956 | ALMS1 | c.10208T>G (p.Leu3403Arg) c.3294T>G c.7489T>G c.4655T>G (p.Leu1552Arg) c.7534T>G c.10589T>G (p.Leu3530Arg) c.743T>G (p.Leu248Arg) c.1945T>G c.1686T>G c.4080T>G (n.4080T>G) c.10463T>G (p.Leu3488Arg) n.4392T>G c.10592T>G (p.Leu3531Arg) | |
2 | g.73572467T>A | CA427024787 | ALMS1 | c.10209T>A (p.Leu3403=) c.3295T>A c.7490T>A c.4656T>A (p.Leu1552=) c.7535T>A c.10590T>A (p.Leu3530=) c.744T>A (p.Leu248=) c.1946T>A c.1687T>A c.4081T>A (n.4081T>A) c.10464T>A (p.Leu3488=) n.4393T>A c.10593T>A (p.Leu3531=) | |
2 | g.73572467T>C | CA1715033 | ALMS1 | c.10209T>C (p.Leu3403=) c.3295T>C c.7490T>C c.4656T>C (p.Leu1552=) c.7535T>C c.10590T>C (p.Leu3530=) c.744T>C (p.Leu248=) c.1946T>C c.1687T>C c.4081T>C (n.4081T>C) c.10464T>C (p.Leu3488=) n.4393T>C c.10593T>C (p.Leu3531=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572467T>G | CA427024788 | ALMS1 | c.10209T>G (p.Leu3403=) c.3295T>G c.7490T>G c.4656T>G (p.Leu1552=) c.7535T>G c.10590T>G (p.Leu3530=) c.744T>G (p.Leu248=) c.1946T>G c.1687T>G c.4081T>G (n.4081T>G) c.10464T>G (p.Leu3488=) n.4393T>G c.10593T>G (p.Leu3531=) | gnomAD v4 |
2 | g.73572467T= | CA1261021224 | ALMS1 | c.10209T= (p.Leu3403=) c.3295T= c.7490T= c.4656T= (p.Leu1552=) c.7535T= c.10590T= (p.Leu3530=) c.744T= (p.Leu248=) c.1946T= c.1687T= c.4081T= (n.4081T=) c.10464T= (p.Leu3488=) n.4393T= c.10593T= (p.Leu3531=) | |
2 | g.73572468C>A | CA347283972 | ALMS1 | c.10210C>A (p.Pro3404Thr) c.3296C>A c.7491C>A c.4657C>A (p.Pro1553Thr) c.7536C>A c.10591C>A (p.Pro3531Thr) c.745C>A (p.Pro249Thr) c.1947C>A c.1688C>A c.4082C>A (n.4082C>A) c.10465C>A (p.Pro3489Thr) n.4394C>A c.10594C>A (p.Pro3532Thr) | |
2 | g.73572468C= | CA1261021228 | ALMS1 | c.10210C= (p.Pro3404=) c.3296C= c.7491C= c.4657C= (p.Pro1553=) c.7536C= c.10591C= (p.Pro3531=) c.745C= (p.Pro249=) c.1947C= c.1688C= c.4082C= (n.4082C=) c.10465C= (p.Pro3489=) n.4394C= c.10594C= (p.Pro3532=) | |
2 | g.73572468C>G | CA347283975 | ALMS1 | c.10210C>G (p.Pro3404Ala) c.3296C>G c.7491C>G c.4657C>G (p.Pro1553Ala) c.7536C>G c.10591C>G (p.Pro3531Ala) c.745C>G (p.Pro249Ala) c.1947C>G c.1688C>G c.4082C>G (n.4082C>G) c.10465C>G (p.Pro3489Ala) n.4394C>G c.10594C>G (p.Pro3532Ala) | |
2 | g.73572468C>T | CA347283978 | ALMS1 | c.10210C>T (p.Pro3404Ser) c.3296C>T c.7491C>T c.4657C>T (p.Pro1553Ser) c.7536C>T c.10591C>T (p.Pro3531Ser) c.745C>T (p.Pro249Ser) c.1947C>T c.1688C>T c.4082C>T (n.4082C>T) c.10465C>T (p.Pro3489Ser) n.4394C>T c.10594C>T (p.Pro3532Ser) | dbSNP |
2 | g.73572469C>A | CA347283982 | ALMS1 | c.10211C>A (p.Pro3404His) c.3297C>A c.7492C>A c.4658C>A (p.Pro1553His) c.7537C>A c.10592C>A (p.Pro3531His) c.746C>A (p.Pro249His) c.1948C>A c.1689C>A c.4083C>A (n.4083C>A) c.10466C>A (p.Pro3489His) n.4395C>A c.10595C>A (p.Pro3532His) | |
2 | g.73572469C>G | CA347283983 | ALMS1 | c.10211C>G (p.Pro3404Arg) c.3297C>G c.7492C>G c.4658C>G (p.Pro1553Arg) c.7537C>G c.10592C>G (p.Pro3531Arg) c.746C>G (p.Pro249Arg) c.1948C>G c.1689C>G c.4083C>G (n.4083C>G) c.10466C>G (p.Pro3489Arg) n.4395C>G c.10595C>G (p.Pro3532Arg) | ClinVar dbSNP |
2 | g.73572469C>T | CA347283988 | ALMS1 | c.10211C>T (p.Pro3404Leu) c.3297C>T c.7492C>T c.4658C>T (p.Pro1553Leu) c.7537C>T c.10592C>T (p.Pro3531Leu) c.746C>T (p.Pro249Leu) c.1948C>T c.1689C>T c.4083C>T (n.4083C>T) c.10466C>T (p.Pro3489Leu) n.4395C>T c.10595C>T (p.Pro3532Leu) | |
2 | g.73572470T>A | CA427024796 | ALMS1 | c.10212T>A (p.Pro3404=) c.3298T>A c.7493T>A c.4659T>A (p.Pro1553=) c.7538T>A c.10593T>A (p.Pro3531=) c.747T>A (p.Pro249=) c.1949T>A c.1690T>A c.4084T>A (n.4084T>A) c.10467T>A (p.Pro3489=) n.4396T>A c.10596T>A (p.Pro3532=) | |
2 | g.73572470T>C | CA427024799 | ALMS1 | c.10212T>C (p.Pro3404=) c.3298T>C c.7493T>C c.4659T>C (p.Pro1553=) c.7538T>C c.10593T>C (p.Pro3531=) c.747T>C (p.Pro249=) c.1949T>C c.1690T>C c.4084T>C (n.4084T>C) c.10467T>C (p.Pro3489=) n.4396T>C c.10596T>C (p.Pro3532=) | |
2 | g.73572470T>G | CA427024801 | ALMS1 | c.10212T>G (p.Pro3404=) c.3298T>G c.7493T>G c.4659T>G (p.Pro1553=) c.7538T>G c.10593T>G (p.Pro3531=) c.747T>G (p.Pro249=) c.1949T>G c.1690T>G c.4084T>G (n.4084T>G) c.10467T>G (p.Pro3489=) n.4396T>G c.10596T>G (p.Pro3532=) | |
2 | g.73572471T>A | CA347283989 | ALMS1 | c.10213T>A (p.Tyr3405Asn) c.3299T>A c.7494T>A c.4660T>A (p.Tyr1554Asn) c.7539T>A c.10594T>A (p.Tyr3532Asn) c.748T>A (p.Tyr250Asn) c.1950T>A c.1691T>A c.4085T>A (n.4085T>A) c.10468T>A (p.Tyr3490Asn) n.4397T>A c.10597T>A (p.Tyr3533Asn) | dbSNP |
2 | g.73572471T>C | CA347283990 | ALMS1 | c.10213T>C (p.Tyr3405His) c.3299T>C c.7494T>C c.4660T>C (p.Tyr1554His) c.7539T>C c.10594T>C (p.Tyr3532His) c.748T>C (p.Tyr250His) c.1950T>C c.1691T>C c.4085T>C (n.4085T>C) c.10468T>C (p.Tyr3490His) n.4397T>C c.10597T>C (p.Tyr3533His) | |
2 | g.73572471T>G | CA347283992 | ALMS1 | c.10213T>G (p.Tyr3405Asp) c.3299T>G c.7494T>G c.4660T>G (p.Tyr1554Asp) c.7539T>G c.10594T>G (p.Tyr3532Asp) c.748T>G (p.Tyr250Asp) c.1950T>G c.1691T>G c.4085T>G (n.4085T>G) c.10468T>G (p.Tyr3490Asp) n.4397T>G c.10597T>G (p.Tyr3533Asp) | |
2 | g.73572471T= | CA1261021229 | ALMS1 | c.10213T= (p.Tyr3405=) c.3299T= c.7494T= c.4660T= (p.Tyr1554=) c.7539T= c.10594T= (p.Tyr3532=) c.748T= (p.Tyr250=) c.1950T= c.1691T= c.4085T= (n.4085T=) c.10468T= (p.Tyr3490=) n.4397T= c.10597T= (p.Tyr3533=) | |
2 | g.73572472A>C | CA347283995 | ALMS1 | c.10214A>C (p.Tyr3405Ser) c.3300A>C c.7495A>C c.4661A>C (p.Tyr1554Ser) c.7540A>C c.10595A>C (p.Tyr3532Ser) c.749A>C (p.Tyr250Ser) c.1951A>C c.1692A>C c.4086A>C (n.4086A>C) c.10469A>C (p.Tyr3490Ser) n.4398A>C c.10598A>C (p.Tyr3533Ser) | |
2 | g.73572472A>G | CA347283998 | ALMS1 | c.10214A>G (p.Tyr3405Cys) c.3300A>G c.7495A>G c.4661A>G (p.Tyr1554Cys) c.7540A>G c.10595A>G (p.Tyr3532Cys) c.749A>G (p.Tyr250Cys) c.1951A>G c.1692A>G c.4086A>G (n.4086A>G) c.10469A>G (p.Tyr3490Cys) n.4398A>G c.10598A>G (p.Tyr3533Cys) | gnomAD v4 |
2 | g.73572472A>T | CA347284001 | ALMS1 | c.10214A>T (p.Tyr3405Phe) c.3300A>T c.7495A>T c.4661A>T (p.Tyr1554Phe) c.7540A>T c.10595A>T (p.Tyr3532Phe) c.749A>T (p.Tyr250Phe) c.1951A>T c.1692A>T c.4086A>T (n.4086A>T) c.10469A>T (p.Tyr3490Phe) n.4398A>T c.10598A>T (p.Tyr3533Phe) | |
2 | g.73572473T>A | CA347284011 | ALMS1 | c.10215T>A (p.Tyr3405Ter) c.3301T>A c.7496T>A c.4662T>A (p.Tyr1554Ter) c.7541T>A c.10596T>A (p.Tyr3532Ter) c.750T>A (p.Tyr250Ter) c.1952T>A c.1693T>A c.4087T>A (n.4087T>A) c.10470T>A (p.Tyr3490Ter) n.4399T>A c.10599T>A (p.Tyr3533Ter) | gnomAD v4 |
2 | g.73572473T>C | CA427024807 | ALMS1 | c.10215T>C (p.Tyr3405=) c.3301T>C c.7496T>C c.4662T>C (p.Tyr1554=) c.7541T>C c.10596T>C (p.Tyr3532=) c.750T>C (p.Tyr250=) c.1952T>C c.1693T>C c.4087T>C (n.4087T>C) c.10470T>C (p.Tyr3490=) n.4399T>C c.10599T>C (p.Tyr3533=) | |
2 | g.73572473T>G | CA347284007 | ALMS1 | c.10215T>G (p.Tyr3405Ter) c.3301T>G c.7496T>G c.4662T>G (p.Tyr1554Ter) c.7541T>G c.10596T>G (p.Tyr3532Ter) c.750T>G (p.Tyr250Ter) c.1952T>G c.1693T>G c.4087T>G (n.4087T>G) c.10470T>G (p.Tyr3490Ter) n.4399T>G c.10599T>G (p.Tyr3533Ter) | |
2 | g.73572474C>A | CA347284015 | ALMS1 | c.10216C>A (p.Gln3406Lys) c.3302C>A c.7497C>A c.4663C>A (p.Gln1555Lys) c.7542C>A c.10597C>A (p.Gln3533Lys) c.751C>A (p.Gln251Lys) c.1953C>A c.1694C>A c.4088C>A (n.4088C>A) c.10471C>A (p.Gln3491Lys) n.4400C>A c.10600C>A (p.Gln3534Lys) | |
2 | g.73572474C>G | CA347284018 | ALMS1 | c.10216C>G (p.Gln3406Glu) c.3302C>G c.7497C>G c.4663C>G (p.Gln1555Glu) c.7542C>G c.10597C>G (p.Gln3533Glu) c.751C>G (p.Gln251Glu) c.1953C>G c.1694C>G c.4088C>G (n.4088C>G) c.10471C>G (p.Gln3491Glu) n.4400C>G c.10600C>G (p.Gln3534Glu) | |
2 | g.73572474C>T | CA347284017 | ALMS1 | c.10216C>T (p.Gln3406Ter) c.3302C>T c.7497C>T c.4663C>T (p.Gln1555Ter) c.7542C>T c.10597C>T (p.Gln3533Ter) c.751C>T (p.Gln251Ter) c.1953C>T c.1694C>T c.4088C>T (n.4088C>T) c.10471C>T (p.Gln3491Ter) n.4400C>T c.10600C>T (p.Gln3534Ter) | |
2 | g.73572475A= | CA1261021230 | ALMS1 | c.10217A= (p.Gln3406=) c.3303A= c.7498A= c.4664A= (p.Gln1555=) c.7543A= c.10598A= (p.Gln3533=) c.752A= (p.Gln251=) c.1954A= c.1695A= c.4089A= (n.4089A=) c.10472A= (p.Gln3491=) n.4401A= c.10601A= (p.Gln3534=) | |
2 | g.73572475A>C | CA347284025 | ALMS1 | c.10217A>C (p.Gln3406Pro) c.3303A>C c.7498A>C c.4664A>C (p.Gln1555Pro) c.7543A>C c.10598A>C (p.Gln3533Pro) c.752A>C (p.Gln251Pro) c.1954A>C c.1695A>C c.4089A>C (n.4089A>C) c.10472A>C (p.Gln3491Pro) n.4401A>C c.10601A>C (p.Gln3534Pro) | |
2 | g.73572475A>G | CA347284032 | ALMS1 | c.10217A>G (p.Gln3406Arg) c.3303A>G c.7498A>G c.4664A>G (p.Gln1555Arg) c.7543A>G c.10598A>G (p.Gln3533Arg) c.752A>G (p.Gln251Arg) c.1954A>G c.1695A>G c.4089A>G (n.4089A>G) c.10472A>G (p.Gln3491Arg) n.4401A>G c.10601A>G (p.Gln3534Arg) | dbSNP |
2 | g.73572475A>T | CA347284028 | ALMS1 | c.10217A>T (p.Gln3406Leu) c.3303A>T c.7498A>T c.4664A>T (p.Gln1555Leu) c.7543A>T c.10598A>T (p.Gln3533Leu) c.752A>T (p.Gln251Leu) c.1954A>T c.1695A>T c.4089A>T (n.4089A>T) c.10472A>T (p.Gln3491Leu) n.4401A>T c.10601A>T (p.Gln3534Leu) | |
2 | g.73572476A>C | CA347284039 | ALMS1 | c.10218A>C (p.Gln3406His) c.3304A>C c.7499A>C c.4665A>C (p.Gln1555His) c.7544A>C c.10599A>C (p.Gln3533His) c.753A>C (p.Gln251His) c.1955A>C c.1696A>C c.4090A>C (n.4090A>C) c.10473A>C (p.Gln3491His) n.4402A>C c.10602A>C (p.Gln3534His) | |
2 | g.73572476A>G | CA427024817 | ALMS1 | c.10218A>G (p.Gln3406=) c.3304A>G c.7499A>G c.4665A>G (p.Gln1555=) c.7544A>G c.10599A>G (p.Gln3533=) c.753A>G (p.Gln251=) c.1955A>G c.1696A>G c.4090A>G (n.4090A>G) c.10473A>G (p.Gln3491=) n.4402A>G c.10602A>G (p.Gln3534=) | |
2 | g.73572476A>T | CA347284041 | ALMS1 | c.10218A>T (p.Gln3406His) c.3304A>T c.7499A>T c.4665A>T (p.Gln1555His) c.7544A>T c.10599A>T (p.Gln3533His) c.753A>T (p.Gln251His) c.1955A>T c.1696A>T c.4090A>T (n.4090A>T) c.10473A>T (p.Gln3491His) n.4402A>T c.10602A>T (p.Gln3534His) | |
2 | g.73572481_73572546del | CA2659617091 | ALMS1 | c.10223_10288del (p.Met3408_Asn3429del) c.3309_3374del c.7504_7569del c.4670_4735del (p.Met1557_Asn1578del) c.7549_7614del c.10604_10669del (p.Met3535_Asn3556del) c.758_823del (p.Met253_Asn274del) c.1960_2025del c.1701_1766del c.4095_4160del (n.4095_4160del) c.10478_10543del (p.Met3493_Asn3514del) n.4407_4472del c.10607_10672del (p.Met3536_Asn3557del) | gnomAD v4 |
2 | g.73572477A>C | CA347284042 | ALMS1 | c.10219A>C (p.Asn3407His) c.3305A>C c.7500A>C c.4666A>C (p.Asn1556His) c.7545A>C c.10600A>C (p.Asn3534His) c.754A>C (p.Asn252His) c.1956A>C c.1697A>C c.4091A>C (n.4091A>C) c.10474A>C (p.Asn3492His) n.4403A>C c.10603A>C (p.Asn3535His) | |
2 | g.73572477A>G | CA347284044 | ALMS1 | c.10219A>G (p.Asn3407Asp) c.3305A>G c.7500A>G c.4666A>G (p.Asn1556Asp) c.7545A>G c.10600A>G (p.Asn3534Asp) c.754A>G (p.Asn252Asp) c.1956A>G c.1697A>G c.4091A>G (n.4091A>G) c.10474A>G (p.Asn3492Asp) n.4403A>G c.10603A>G (p.Asn3535Asp) | |
2 | g.73572477A>T | CA347284045 | ALMS1 | c.10219A>T (p.Asn3407Tyr) c.3305A>T c.7500A>T c.4666A>T (p.Asn1556Tyr) c.7545A>T c.10600A>T (p.Asn3534Tyr) c.754A>T (p.Asn252Tyr) c.1956A>T c.1697A>T c.4091A>T (n.4091A>T) c.10474A>T (p.Asn3492Tyr) n.4403A>T c.10603A>T (p.Asn3535Tyr) | |
2 | g.73572478A>C | CA347284048 | ALMS1 | c.10220A>C (p.Asn3407Thr) c.3306A>C c.7501A>C c.4667A>C (p.Asn1556Thr) c.7546A>C c.10601A>C (p.Asn3534Thr) c.755A>C (p.Asn252Thr) c.1957A>C c.1698A>C c.4092A>C (n.4092A>C) c.10475A>C (p.Asn3492Thr) n.4404A>C c.10604A>C (p.Asn3535Thr) | |
2 | g.73572478A>G | CA347284052 | ALMS1 | c.10220A>G (p.Asn3407Ser) c.3306A>G c.7501A>G c.4667A>G (p.Asn1556Ser) c.7546A>G c.10601A>G (p.Asn3534Ser) c.755A>G (p.Asn252Ser) c.1957A>G c.1698A>G c.4092A>G (n.4092A>G) c.10475A>G (p.Asn3492Ser) n.4404A>G c.10604A>G (p.Asn3535Ser) | |
2 | g.73572478A>T | CA347284055 | ALMS1 | c.10220A>T (p.Asn3407Ile) c.3306A>T c.7501A>T c.4667A>T (p.Asn1556Ile) c.7546A>T c.10601A>T (p.Asn3534Ile) c.755A>T (p.Asn252Ile) c.1957A>T c.1698A>T c.4092A>T (n.4092A>T) c.10475A>T (p.Asn3492Ile) n.4404A>T c.10604A>T (p.Asn3535Ile) | |
2 | g.73572479C>A | CA347284059 | ALMS1 | c.10221C>A (p.Asn3407Lys) c.3307C>A c.7502C>A c.4668C>A (p.Asn1556Lys) c.7547C>A c.10602C>A (p.Asn3534Lys) c.756C>A (p.Asn252Lys) c.1958C>A c.1699C>A c.4093C>A (n.4093C>A) c.10476C>A (p.Asn3492Lys) n.4405C>A c.10605C>A (p.Asn3535Lys) | |
2 | g.73572479C>G | CA347284062 | ALMS1 | c.10221C>G (p.Asn3407Lys) c.3307C>G c.7502C>G c.4668C>G (p.Asn1556Lys) c.7547C>G c.10602C>G (p.Asn3534Lys) c.756C>G (p.Asn252Lys) c.1958C>G c.1699C>G c.4093C>G (n.4093C>G) c.10476C>G (p.Asn3492Lys) n.4405C>G c.10605C>G (p.Asn3535Lys) | gnomAD v4 |
2 | g.73572479C>T | CA427024822 | ALMS1 | c.10221C>T (p.Asn3407=) c.3307C>T c.7502C>T c.4668C>T (p.Asn1556=) c.7547C>T c.10602C>T (p.Asn3534=) c.756C>T (p.Asn252=) c.1958C>T c.1699C>T c.4093C>T (n.4093C>T) c.10476C>T (p.Asn3492=) n.4405C>T c.10605C>T (p.Asn3535=) | ClinVar gnomAD v4 |
2 | g.73572480A= | CA1261021231 | ALMS1 | c.10222A= (p.Met3408=) c.3308A= c.7503A= c.4669A= (p.Met1557=) c.7548A= c.10603A= (p.Met3535=) c.757A= (p.Met253=) c.1959A= c.1700A= c.4094A= (n.4094A=) c.10477A= (p.Met3493=) n.4406A= c.10606A= (p.Met3536=) | |
2 | g.73572480A>C | CA347284074 | ALMS1 | c.10222A>C (p.Met3408Leu) c.3308A>C c.7503A>C c.4669A>C (p.Met1557Leu) c.7548A>C c.10603A>C (p.Met3535Leu) c.757A>C (p.Met253Leu) c.1959A>C c.1700A>C c.4094A>C (n.4094A>C) c.10477A>C (p.Met3493Leu) n.4406A>C c.10606A>C (p.Met3536Leu) | |
2 | g.73572480A>G | CA347284071 | ALMS1 | c.10222A>G (p.Met3408Val) c.3308A>G c.7503A>G c.4669A>G (p.Met1557Val) c.7548A>G c.10603A>G (p.Met3535Val) c.757A>G (p.Met253Val) c.1959A>G c.1700A>G c.4094A>G (n.4094A>G) c.10477A>G (p.Met3493Val) n.4406A>G c.10606A>G (p.Met3536Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572480A>T | CA1715034 | ALMS1 | c.10222A>T (p.Met3408Leu) c.3308A>T c.7503A>T c.4669A>T (p.Met1557Leu) c.7548A>T c.10603A>T (p.Met3535Leu) c.757A>T (p.Met253Leu) c.1959A>T c.1700A>T c.4094A>T (n.4094A>T) c.10477A>T (p.Met3493Leu) n.4406A>T c.10606A>T (p.Met3536Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572481T>A | CA347284085 | ALMS1 | c.10223T>A (p.Met3408Lys) c.3309T>A c.7504T>A c.4670T>A (p.Met1557Lys) c.7549T>A c.10604T>A (p.Met3535Lys) c.758T>A (p.Met253Lys) c.1960T>A c.1701T>A c.4095T>A (n.4095T>A) c.10478T>A (p.Met3493Lys) n.4407T>A c.10607T>A (p.Met3536Lys) | |
2 | g.73572481T>C | CA347284087 | ALMS1 | c.10223T>C (p.Met3408Thr) c.3309T>C c.7504T>C c.4670T>C (p.Met1557Thr) c.7549T>C c.10604T>C (p.Met3535Thr) c.758T>C (p.Met253Thr) c.1960T>C c.1701T>C c.4095T>C (n.4095T>C) c.10478T>C (p.Met3493Thr) n.4407T>C c.10607T>C (p.Met3536Thr) | gnomAD v4 |
2 | g.73572481T>G | CA347284089 | ALMS1 | c.10223T>G (p.Met3408Arg) c.3309T>G c.7504T>G c.4670T>G (p.Met1557Arg) c.7549T>G c.10604T>G (p.Met3535Arg) c.758T>G (p.Met253Arg) c.1960T>G c.1701T>G c.4095T>G (n.4095T>G) c.10478T>G (p.Met3493Arg) n.4407T>G c.10607T>G (p.Met3536Arg) | |
2 | g.73572482G>A | CA347284093 | ALMS1 | c.10224G>A (p.Met3408Ile) c.3310G>A c.7505G>A c.4671G>A (p.Met1557Ile) c.7550G>A c.10605G>A (p.Met3535Ile) c.759G>A (p.Met253Ile) c.1961G>A c.1702G>A c.4096G>A (n.4096G>A) c.10479G>A (p.Met3493Ile) n.4408G>A c.10608G>A (p.Met3536Ile) | ClinVar |
2 | g.73572482G>C | CA347284096 | ALMS1 | c.10224G>C (p.Met3408Ile) c.3310G>C c.7505G>C c.4671G>C (p.Met1557Ile) c.7550G>C c.10605G>C (p.Met3535Ile) c.759G>C (p.Met253Ile) c.1961G>C c.1702G>C c.4096G>C (n.4096G>C) c.10479G>C (p.Met3493Ile) n.4408G>C c.10608G>C (p.Met3536Ile) | |
2 | g.73572482G>T | CA347284099 | ALMS1 | c.10224G>T (p.Met3408Ile) c.3310G>T c.7505G>T c.4671G>T (p.Met1557Ile) c.7550G>T c.10605G>T (p.Met3535Ile) c.759G>T (p.Met253Ile) c.1961G>T c.1702G>T c.4096G>T (n.4096G>T) c.10479G>T (p.Met3493Ile) n.4408G>T c.10608G>T (p.Met3536Ile) | |
2 | g.73572483del | CA2659617096 | ALMS1 | c.10225del (p.Asp3409ThrfsTer10) c.3311del c.7506del c.4672del (p.Asp1558ThrfsTer10) c.7551del c.10606del (p.Asp3536ThrfsTer10) c.760del (p.Asp254ThrfsTer10) c.1962del c.1703del c.4097del (n.4097del) c.10480del (p.Asp3494ThrfsTer10) n.4409del c.10609del (p.Asp3537ThrfsTer10) | gnomAD v4 |
2 | g.73572483G>A | CA347284102 | ALMS1 | c.10225G>A (p.Asp3409Asn) c.3311G>A c.7506G>A c.4672G>A (p.Asp1558Asn) c.7551G>A c.10606G>A (p.Asp3536Asn) c.760G>A (p.Asp254Asn) c.1962G>A c.1703G>A c.4097G>A (n.4097G>A) c.10480G>A (p.Asp3494Asn) n.4409G>A c.10609G>A (p.Asp3537Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572483G>C | CA347284103 | ALMS1 | c.10225G>C (p.Asp3409His) c.3311G>C c.7506G>C c.4672G>C (p.Asp1558His) c.7551G>C c.10606G>C (p.Asp3536His) c.760G>C (p.Asp254His) c.1962G>C c.1703G>C c.4097G>C (n.4097G>C) c.10480G>C (p.Asp3494His) n.4409G>C c.10609G>C (p.Asp3537His) | |
2 | g.73572483G= | CA1261021232 | ALMS1 | c.10225G= (p.Asp3409=) c.3311G= c.7506G= c.4672G= (p.Asp1558=) c.7551G= c.10606G= (p.Asp3536=) c.760G= (p.Asp254=) c.1962G= c.1703G= c.4097G= (n.4097G=) c.10480G= (p.Asp3494=) n.4409G= c.10609G= (p.Asp3537=) | |
2 | g.73572483G>T | CA347284107 | ALMS1 | c.10225G>T (p.Asp3409Tyr) c.3311G>T c.7506G>T c.4672G>T (p.Asp1558Tyr) c.7551G>T c.10606G>T (p.Asp3536Tyr) c.760G>T (p.Asp254Tyr) c.1962G>T c.1703G>T c.4097G>T (n.4097G>T) c.10480G>T (p.Asp3494Tyr) n.4409G>T c.10609G>T (p.Asp3537Tyr) | gnomAD v4 |
2 | g.73572483_73572484delinsT | CA2586964941 | ALMS1 | c.10225_10226delinsT (p.Asp3409SerfsTer10) c.3311_3312delinsT c.7506_7507delinsT c.4672_4673delinsT (p.Asp1558SerfsTer10) c.7551_7552delinsT c.10606_10607delinsT (p.Asp3536SerfsTer10) c.760_761delinsT (p.Asp254SerfsTer10) c.1962_1963delinsT c.1703_1704delinsT c.4097_4098delinsT (n.4097_4098delinsT) c.10480_10481delinsT (p.Asp3494SerfsTer10) n.4409_4410delinsT c.10609_10610delinsT (p.Asp3537SerfsTer10) | |
2 | g.73572483_73572488delinsTCAAA | CA2586964942 | ALMS1 | c.10225_10230delinsTCAAA (p.Asp3409SerfsTer10) c.3311_3316delinsTCAAA c.7506_7511delinsTCAAA c.4672_4677delinsTCAAA (p.Asp1558SerfsTer10) c.7551_7556delinsTCAAA c.10606_10611delinsTCAAA (p.Asp3536SerfsTer10) c.760_765delinsTCAAA (p.Asp254SerfsTer10) c.1962_1967delinsTCAAA c.1703_1708delinsTCAAA c.4097_4102delinsTCAAA (n.4097_4102delinsTCAAA) c.10480_10485delinsTCAAA (p.Asp3494SerfsTer10) n.4409_4414delinsTCAAA c.10609_10614delinsTCAAA (p.Asp3537SerfsTer10) | |
2 | g.73572484A>C | CA347284108 | ALMS1 | c.10226A>C (p.Asp3409Ala) c.3312A>C c.7507A>C c.4673A>C (p.Asp1558Ala) c.7552A>C c.10607A>C (p.Asp3536Ala) c.761A>C (p.Asp254Ala) c.1963A>C c.1704A>C c.4098A>C (n.4098A>C) c.10481A>C (p.Asp3494Ala) n.4410A>C c.10610A>C (p.Asp3537Ala) | |
2 | g.73572484A>G | CA347284109 | ALMS1 | c.10226A>G (p.Asp3409Gly) c.3312A>G c.7507A>G c.4673A>G (p.Asp1558Gly) c.7552A>G c.10607A>G (p.Asp3536Gly) c.761A>G (p.Asp254Gly) c.1963A>G c.1704A>G c.4098A>G (n.4098A>G) c.10481A>G (p.Asp3494Gly) n.4410A>G c.10610A>G (p.Asp3537Gly) | ClinVar |
2 | g.73572484A>T | CA347284110 | ALMS1 | c.10226A>T (p.Asp3409Val) c.3312A>T c.7507A>T c.4673A>T (p.Asp1558Val) c.7552A>T c.10607A>T (p.Asp3536Val) c.761A>T (p.Asp254Val) c.1963A>T c.1704A>T c.4098A>T (n.4098A>T) c.10481A>T (p.Asp3494Val) n.4410A>T c.10610A>T (p.Asp3537Val) | gnomAD v4 |
2 | g.73572485C>A | CA347284113 | ALMS1 | c.10227C>A (p.Asp3409Glu) c.3313C>A c.7508C>A c.4674C>A (p.Asp1558Glu) c.7553C>A c.10608C>A (p.Asp3536Glu) c.762C>A (p.Asp254Glu) c.1964C>A c.1705C>A c.4099C>A (n.4099C>A) c.10482C>A (p.Asp3494Glu) n.4411C>A c.10611C>A (p.Asp3537Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572485C= | CA1261021233 | ALMS1 | c.10227C= (p.Asp3409=) c.3313C= c.7508C= c.4674C= (p.Asp1558=) c.7553C= c.10608C= (p.Asp3536=) c.762C= (p.Asp254=) c.1964C= c.1705C= c.4099C= (n.4099C=) c.10482C= (p.Asp3494=) n.4411C= c.10611C= (p.Asp3537=) | |
2 | g.73572485C>G | CA50386294 | ALMS1 | c.10227C>G (p.Asp3409Glu) c.3313C>G c.7508C>G c.4674C>G (p.Asp1558Glu) c.7553C>G c.10608C>G (p.Asp3536Glu) c.762C>G (p.Asp254Glu) c.1964C>G c.1705C>G c.4099C>G (n.4099C>G) c.10482C>G (p.Asp3494Glu) n.4411C>G c.10611C>G (p.Asp3537Glu) | dbSNP gnomAD v4 |
2 | g.73572485C>T | CA1715035 | ALMS1 | c.10227C>T (p.Asp3409=) c.3313C>T c.7508C>T c.4674C>T (p.Asp1558=) c.7553C>T c.10608C>T (p.Asp3536=) c.762C>T (p.Asp254=) c.1964C>T c.1705C>T c.4099C>T (n.4099C>T) c.10482C>T (p.Asp3494=) n.4411C>T c.10611C>T (p.Asp3537=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572486A>C | CA347284120 | ALMS1 | c.10228A>C (p.Lys3410Gln) c.3314A>C c.7509A>C c.4675A>C (p.Lys1559Gln) c.7554A>C c.10609A>C (p.Lys3537Gln) c.763A>C (p.Lys255Gln) c.1965A>C c.1706A>C c.4100A>C (n.4100A>C) c.10483A>C (p.Lys3495Gln) n.4412A>C c.10612A>C (p.Lys3538Gln) | |
2 | g.73572486A>G | CA347284123 | ALMS1 | c.10228A>G (p.Lys3410Glu) c.3314A>G c.7509A>G c.4675A>G (p.Lys1559Glu) c.7554A>G c.10609A>G (p.Lys3537Glu) c.763A>G (p.Lys255Glu) c.1965A>G c.1706A>G c.4100A>G (n.4100A>G) c.10483A>G (p.Lys3495Glu) n.4412A>G c.10612A>G (p.Lys3538Glu) | |
2 | g.73572486A>T | CA347284128 | ALMS1 | c.10228A>T (p.Lys3410Ter) c.3314A>T c.7509A>T c.4675A>T (p.Lys1559Ter) c.7554A>T c.10609A>T (p.Lys3537Ter) c.763A>T (p.Lys255Ter) c.1965A>T c.1706A>T c.4100A>T (n.4100A>T) c.10483A>T (p.Lys3495Ter) n.4412A>T c.10612A>T (p.Lys3538Ter) | |
2 | g.73572487A>C | CA347284133 | ALMS1 | c.10229A>C (p.Lys3410Thr) c.3315A>C c.7510A>C c.4676A>C (p.Lys1559Thr) c.7555A>C c.10610A>C (p.Lys3537Thr) c.764A>C (p.Lys255Thr) c.1966A>C c.1707A>C c.4101A>C (n.4101A>C) c.10484A>C (p.Lys3495Thr) n.4413A>C c.10613A>C (p.Lys3538Thr) | |
2 | g.73572487A>G | CA347284136 | ALMS1 | c.10229A>G (p.Lys3410Arg) c.3315A>G c.7510A>G c.4676A>G (p.Lys1559Arg) c.7555A>G c.10610A>G (p.Lys3537Arg) c.764A>G (p.Lys255Arg) c.1966A>G c.1707A>G c.4101A>G (n.4101A>G) c.10484A>G (p.Lys3495Arg) n.4413A>G c.10613A>G (p.Lys3538Arg) | |
2 | g.73572487A>T | CA347284139 | ALMS1 | c.10229A>T (p.Lys3410Met) c.3315A>T c.7510A>T c.4676A>T (p.Lys1559Met) c.7555A>T c.10610A>T (p.Lys3537Met) c.764A>T (p.Lys255Met) c.1966A>T c.1707A>T c.4101A>T (n.4101A>T) c.10484A>T (p.Lys3495Met) n.4413A>T c.10613A>T (p.Lys3538Met) | |
2 | g.73572488G>A | CA427023997 | ALMS1 | c.10230G>A (p.Lys3410=) c.3316G>A c.7511G>A c.4677G>A (p.Lys1559=) c.7556G>A c.10611G>A (p.Lys3537=) c.765G>A (p.Lys255=) c.1967G>A c.1708G>A c.4102G>A (n.4102G>A) c.10485G>A (p.Lys3495=) n.4414G>A c.10614G>A (p.Lys3538=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572488G>C | CA347284148 | ALMS1 | c.10230G>C (p.Lys3410Asn) c.3316G>C c.7511G>C c.4677G>C (p.Lys1559Asn) c.7556G>C c.10611G>C (p.Lys3537Asn) c.765G>C (p.Lys255Asn) c.1967G>C c.1708G>C c.4102G>C (n.4102G>C) c.10485G>C (p.Lys3495Asn) n.4414G>C c.10614G>C (p.Lys3538Asn) | |
2 | g.73572488G= | CA1261021234 | ALMS1 | c.10230G= (p.Lys3410=) c.3316G= c.7511G= c.4677G= (p.Lys1559=) c.7556G= c.10611G= (p.Lys3537=) c.765G= (p.Lys255=) c.1967G= c.1708G= c.4102G= (n.4102G=) c.10485G= (p.Lys3495=) n.4414G= c.10614G= (p.Lys3538=) | |
2 | g.73572488G>T | CA347284145 | ALMS1 | c.10230G>T (p.Lys3410Asn) c.3316G>T c.7511G>T c.4677G>T (p.Lys1559Asn) c.7556G>T c.10611G>T (p.Lys3537Asn) c.765G>T (p.Lys255Asn) c.1967G>T c.1708G>T c.4102G>T (n.4102G>T) c.10485G>T (p.Lys3495Asn) n.4414G>T c.10614G>T (p.Lys3538Asn) | |
2 | g.73572489A= | CA1261021235 | ALMS1 | c.10231A= (p.Thr3411=) c.3317A= c.7512A= c.4678A= (p.Thr1560=) c.7557A= c.10612A= (p.Thr3538=) c.766A= (p.Thr256=) c.1968A= c.1709A= c.4103A= (n.4103A=) c.10486A= (p.Thr3496=) n.4415A= c.10615A= (p.Thr3539=) | |
2 | g.73572489A>C | CA347284153 | ALMS1 | c.10231A>C (p.Thr3411Pro) c.3317A>C c.7512A>C c.4678A>C (p.Thr1560Pro) c.7557A>C c.10612A>C (p.Thr3538Pro) c.766A>C (p.Thr256Pro) c.1968A>C c.1709A>C c.4103A>C (n.4103A>C) c.10486A>C (p.Thr3496Pro) n.4415A>C c.10615A>C (p.Thr3539Pro) | gnomAD v4 |
2 | g.73572489A>G | CA347284156 | ALMS1 | c.10231A>G (p.Thr3411Ala) c.3317A>G c.7512A>G c.4678A>G (p.Thr1560Ala) c.7557A>G c.10612A>G (p.Thr3538Ala) c.766A>G (p.Thr256Ala) c.1968A>G c.1709A>G c.4103A>G (n.4103A>G) c.10486A>G (p.Thr3496Ala) n.4415A>G c.10615A>G (p.Thr3539Ala) | ClinVar dbSNP gnomAD v4 |
2 | g.73572489A>T | CA347284159 | ALMS1 | c.10231A>T (p.Thr3411Ser) c.3317A>T c.7512A>T c.4678A>T (p.Thr1560Ser) c.7557A>T c.10612A>T (p.Thr3538Ser) c.766A>T (p.Thr256Ser) c.1968A>T c.1709A>T c.4103A>T (n.4103A>T) c.10486A>T (p.Thr3496Ser) n.4415A>T c.10615A>T (p.Thr3539Ser) | |
2 | g.73572490C>A | CA347284164 | ALMS1 | c.10232C>A (p.Thr3411Asn) c.3318C>A c.7513C>A c.4679C>A (p.Thr1560Asn) c.7558C>A c.10613C>A (p.Thr3538Asn) c.767C>A (p.Thr256Asn) c.1969C>A c.1C>A c.1710C>A c.4104C>A (n.4104C>A) c.10487C>A (p.Thr3496Asn) n.4416C>A c.10616C>A (p.Thr3539Asn) | |
2 | g.73572490C>G | CA347284166 | ALMS1 | c.10232C>G (p.Thr3411Ser) c.3318C>G c.7513C>G c.4679C>G (p.Thr1560Ser) c.7558C>G c.10613C>G (p.Thr3538Ser) c.767C>G (p.Thr256Ser) c.1969C>G c.1C>G c.1710C>G c.4104C>G (n.4104C>G) c.10487C>G (p.Thr3496Ser) n.4416C>G c.10616C>G (p.Thr3539Ser) | |
2 | g.73572490C>T | CA347284175 | ALMS1 | c.10232C>T (p.Thr3411Ile) c.3318C>T c.7513C>T c.4679C>T (p.Thr1560Ile) c.7558C>T c.10613C>T (p.Thr3538Ile) c.767C>T (p.Thr256Ile) c.1969C>T c.1C>T c.1710C>T c.4104C>T (n.4104C>T) c.10487C>T (p.Thr3496Ile) n.4416C>T c.10616C>T (p.Thr3539Ile) | ClinVar |
2 | g.73572491T>A | CA427024003 | ALMS1 | c.10233T>A (p.Thr3411=) c.3319T>A c.7514T>A c.4680T>A (p.Thr1560=) c.7559T>A c.10614T>A (p.Thr3538=) c.768T>A (p.Thr256=) c.1970T>A c.2T>A c.1711T>A c.4105T>A (n.4105T>A) c.10488T>A (p.Thr3496=) n.4417T>A c.10617T>A (p.Thr3539=) | |
2 | g.73572491T>C | CA427024005 | ALMS1 | c.10233T>C (p.Thr3411=) c.3319T>C c.7514T>C c.4680T>C (p.Thr1560=) c.7559T>C c.10614T>C (p.Thr3538=) c.768T>C (p.Thr256=) c.1970T>C c.2T>C c.1711T>C c.4105T>C (n.4105T>C) c.10488T>C (p.Thr3496=) n.4417T>C c.10617T>C (p.Thr3539=) | |
2 | g.73572491T>G | CA427024008 | ALMS1 | c.10233T>G (p.Thr3411=) c.3319T>G c.7514T>G c.4680T>G (p.Thr1560=) c.7559T>G c.10614T>G (p.Thr3538=) c.768T>G (p.Thr256=) c.1970T>G c.2T>G c.1711T>G c.4105T>G (n.4105T>G) c.10488T>G (p.Thr3496=) n.4417T>G c.10617T>G (p.Thr3539=) | |
2 | g.73572492A>C | CA347284179 | ALMS1 | c.10234A>C (p.Lys3412Gln) c.3320A>C c.7515A>C c.4681A>C (p.Lys1561Gln) c.7560A>C c.10615A>C (p.Lys3539Gln) c.769A>C (p.Lys257Gln) c.1971A>C c.3A>C c.1712A>C c.4106A>C (n.4106A>C) c.10489A>C (p.Lys3497Gln) n.4418A>C c.10618A>C (p.Lys3540Gln) | |
2 | g.73572492A>G | CA347284186 | ALMS1 | c.10234A>G (p.Lys3412Glu) c.3320A>G c.7515A>G c.4681A>G (p.Lys1561Glu) c.7560A>G c.10615A>G (p.Lys3539Glu) c.769A>G (p.Lys257Glu) c.1971A>G c.3A>G c.1712A>G c.4106A>G (n.4106A>G) c.10489A>G (p.Lys3497Glu) n.4418A>G c.10618A>G (p.Lys3540Glu) | |
2 | g.73572492A>T | CA347284181 | ALMS1 | c.10234A>T (p.Lys3412Ter) c.3320A>T c.7515A>T c.4681A>T (p.Lys1561Ter) c.7560A>T c.10615A>T (p.Lys3539Ter) c.769A>T (p.Lys257Ter) c.1971A>T c.3A>T c.1712A>T c.4106A>T (n.4106A>T) c.10489A>T (p.Lys3497Ter) n.4418A>T c.10618A>T (p.Lys3540Ter) | |
2 | g.73572493A= | CA1261021236 | ALMS1 | c.10235A= (p.Lys3412=) c.3321A= c.7516A= c.4682A= (p.Lys1561=) c.7561A= c.10616A= (p.Lys3539=) c.770A= (p.Lys257=) c.1972A= c.4A= c.1713A= c.4107A= (n.4107A=) c.10490A= (p.Lys3497=) n.4419A= c.10619A= (p.Lys3540=) | |
2 | g.73572493A>C | CA347284189 | ALMS1 | c.10235A>C (p.Lys3412Thr) c.3321A>C c.7516A>C c.4682A>C (p.Lys1561Thr) c.7561A>C c.10616A>C (p.Lys3539Thr) c.770A>C (p.Lys257Thr) c.1972A>C c.4A>C c.1713A>C c.4107A>C (n.4107A>C) c.10490A>C (p.Lys3497Thr) n.4419A>C c.10619A>C (p.Lys3540Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572493A>G | CA347284194 | ALMS1 | c.10235A>G (p.Lys3412Arg) c.3321A>G c.7516A>G c.4682A>G (p.Lys1561Arg) c.7561A>G c.10616A>G (p.Lys3539Arg) c.770A>G (p.Lys257Arg) c.1972A>G c.4A>G c.1713A>G c.4107A>G (n.4107A>G) c.10490A>G (p.Lys3497Arg) n.4419A>G c.10619A>G (p.Lys3540Arg) | gnomAD v4 |
2 | g.73572493A>T | CA347284198 | ALMS1 | c.10235A>T (p.Lys3412Met) c.3321A>T c.7516A>T c.4682A>T (p.Lys1561Met) c.7561A>T c.10616A>T (p.Lys3539Met) c.770A>T (p.Lys257Met) c.1972A>T c.4A>T c.1713A>T c.4107A>T (n.4107A>T) c.10490A>T (p.Lys3497Met) n.4419A>T c.10619A>T (p.Lys3540Met) | |
2 | g.73572496_73572499del | CA2499216271 | ALMS1 | c.10238_10241del (p.Thr3413IlefsTer5) c.3324_3327del c.7519_7522del c.4685_4688del (p.Thr1562IlefsTer5) c.7564_7567del c.10619_10622del (p.Thr3540IlefsTer5) c.773_776del (p.Thr258IlefsTer5) c.1975_1978del c.7_10del c.1716_1719del c.4110_4113del (n.4110_4113del) c.10493_10496del (p.Thr3498IlefsTer5) n.4422_4425del c.10622_10625del (p.Thr3541IlefsTer5) | ClinVar dbSNP gnomAD v4 |
2 | g.73572494G>A | CA427024015 | ALMS1 | c.10236G>A (p.Lys3412=) c.3322G>A c.7517G>A c.4683G>A (p.Lys1561=) c.7562G>A c.10617G>A (p.Lys3539=) c.771G>A (p.Lys257=) c.1973G>A c.5G>A c.1714G>A c.4108G>A (n.4108G>A) c.10491G>A (p.Lys3497=) n.4420G>A c.10620G>A (p.Lys3540=) | |
2 | g.73572494G>C | CA347284201 | ALMS1 | c.10236G>C (p.Lys3412Asn) c.3322G>C c.7517G>C c.4683G>C (p.Lys1561Asn) c.7562G>C c.10617G>C (p.Lys3539Asn) c.771G>C (p.Lys257Asn) c.1973G>C c.5G>C c.1714G>C c.4108G>C (n.4108G>C) c.10491G>C (p.Lys3497Asn) n.4420G>C c.10620G>C (p.Lys3540Asn) | |
2 | g.73572494G>T | CA347284207 | ALMS1 | c.10236G>T (p.Lys3412Asn) c.3322G>T c.7517G>T c.4683G>T (p.Lys1561Asn) c.7562G>T c.10617G>T (p.Lys3539Asn) c.771G>T (p.Lys257Asn) c.1973G>T c.5G>T c.1714G>T c.4108G>T (n.4108G>T) c.10491G>T (p.Lys3497Asn) n.4420G>T c.10620G>T (p.Lys3540Asn) | |
2 | g.73572495A>C | CA347284211 | ALMS1 | c.10237A>C (p.Thr3413Pro) c.3323A>C c.7518A>C c.4684A>C (p.Thr1562Pro) c.7563A>C c.10618A>C (p.Thr3540Pro) c.772A>C (p.Thr258Pro) c.1974A>C c.6A>C c.1715A>C c.4109A>C (n.4109A>C) c.10492A>C (p.Thr3498Pro) n.4421A>C c.10621A>C (p.Thr3541Pro) | |
2 | g.73572495A>G | CA347284213 | ALMS1 | c.10237A>G (p.Thr3413Ala) c.3323A>G c.7518A>G c.4684A>G (p.Thr1562Ala) c.7563A>G c.10618A>G (p.Thr3540Ala) c.772A>G (p.Thr258Ala) c.1974A>G c.6A>G c.1715A>G c.4109A>G (n.4109A>G) c.10492A>G (p.Thr3498Ala) n.4421A>G c.10621A>G (p.Thr3541Ala) | gnomAD v4 |
2 | g.73572495A>T | CA347284217 | ALMS1 | c.10237A>T (p.Thr3413Ser) c.3323A>T c.7518A>T c.4684A>T (p.Thr1562Ser) c.7563A>T c.10618A>T (p.Thr3540Ser) c.772A>T (p.Thr258Ser) c.1974A>T c.6A>T c.1715A>T c.4109A>T (n.4109A>T) c.10492A>T (p.Thr3498Ser) n.4421A>T c.10621A>T (p.Thr3541Ser) | |
2 | g.73572495_73572496insACC | CA2750467769 | ALMS1 | c.10237_10238insACC (p.Thr3413delinsAsnPro) c.3323_3324insACC c.7518_7519insACC c.4684_4685insACC (p.Thr1562delinsAsnPro) c.7563_7564insACC c.10618_10619insACC (p.Thr3540delinsAsnPro) c.772_773insACC (p.Thr258delinsAsnPro) c.1974_1975insACC c.6_7insACC c.1715_1716insACC c.4109_4110insACC (n.4109_4110insACC) c.10492_10493insACC (p.Thr3498delinsAsnPro) n.4421_4422insACC c.10621_10622insACC (p.Thr3541delinsAsnPro) | |
2 | g.73572496C>A | CA347284220 | ALMS1 | c.10238C>A (p.Thr3413Lys) c.3324C>A c.7519C>A c.4685C>A (p.Thr1562Lys) c.7564C>A c.10619C>A (p.Thr3540Lys) c.773C>A (p.Thr258Lys) c.1975C>A c.7C>A c.1716C>A c.4110C>A (n.4110C>A) c.10493C>A (p.Thr3498Lys) n.4422C>A c.10622C>A (p.Thr3541Lys) | |
2 | g.73572496C>G | CA347284221 | ALMS1 | c.10238C>G (p.Thr3413Arg) c.3324C>G c.7519C>G c.4685C>G (p.Thr1562Arg) c.7564C>G c.10619C>G (p.Thr3540Arg) c.773C>G (p.Thr258Arg) c.1975C>G c.7C>G c.1716C>G c.4110C>G (n.4110C>G) c.10493C>G (p.Thr3498Arg) n.4422C>G c.10622C>G (p.Thr3541Arg) | |
2 | g.73572496C>T | CA347284223 | ALMS1 | c.10238C>T (p.Thr3413Ile) c.3324C>T c.7519C>T c.4685C>T (p.Thr1562Ile) c.7564C>T c.10619C>T (p.Thr3540Ile) c.773C>T (p.Thr258Ile) c.1975C>T c.7C>T c.1716C>T c.4110C>T (n.4110C>T) c.10493C>T (p.Thr3498Ile) n.4422C>T c.10622C>T (p.Thr3541Ile) | |
2 | g.73572497A>C | CA427024029 | ALMS1 | c.10239A>C (p.Thr3413=) c.3325A>C c.7520A>C c.4686A>C (p.Thr1562=) c.7565A>C c.10620A>C (p.Thr3540=) c.774A>C (p.Thr258=) c.1976A>C c.8A>C c.1717A>C c.4111A>C (n.4111A>C) c.10494A>C (p.Thr3498=) n.4423A>C c.10623A>C (p.Thr3541=) | |
2 | g.73572497A>G | CA427024026 | ALMS1 | c.10239A>G (p.Thr3413=) c.3325A>G c.7520A>G c.4686A>G (p.Thr1562=) c.7565A>G c.10620A>G (p.Thr3540=) c.774A>G (p.Thr258=) c.1976A>G c.8A>G c.1717A>G c.4111A>G (n.4111A>G) c.10494A>G (p.Thr3498=) n.4423A>G c.10623A>G (p.Thr3541=) | ClinVar dbSNP |
2 | g.73572497A>T | CA427024027 | ALMS1 | c.10239A>T (p.Thr3413=) c.3325A>T c.7520A>T c.4686A>T (p.Thr1562=) c.7565A>T c.10620A>T (p.Thr3540=) c.774A>T (p.Thr258=) c.1976A>T c.8A>T c.1717A>T c.4111A>T (n.4111A>T) c.10494A>T (p.Thr3498=) n.4423A>T c.10623A>T (p.Thr3541=) | |
2 | g.73572498G>A | CA347284235 | ALMS1 | c.10240G>A (p.Asp3414Asn) c.3326G>A c.7521G>A c.4687G>A (p.Asp1563Asn) c.7566G>A c.10621G>A (p.Asp3541Asn) c.775G>A (p.Asp259Asn) c.1977G>A c.9G>A c.1718G>A c.4112G>A (n.4112G>A) c.10495G>A (p.Asp3499Asn) n.4424G>A c.10624G>A (p.Asp3542Asn) | ClinVar dbSNP |
2 | g.73572498G>C | CA347284232 | ALMS1 | c.10240G>C (p.Asp3414His) c.3326G>C c.7521G>C c.4687G>C (p.Asp1563His) c.7566G>C c.10621G>C (p.Asp3541His) c.775G>C (p.Asp259His) c.1977G>C c.9G>C c.1718G>C c.4112G>C (n.4112G>C) c.10495G>C (p.Asp3499His) n.4424G>C c.10624G>C (p.Asp3542His) | |
2 | g.73572498G= | CA1261021237 | ALMS1 | c.10240G= (p.Asp3414=) c.3326G= c.7521G= c.4687G= (p.Asp1563=) c.7566G= c.10621G= (p.Asp3541=) c.775G= (p.Asp259=) c.1977G= c.9G= c.1718G= c.4112G= (n.4112G=) c.10495G= (p.Asp3499=) n.4424G= c.10624G= (p.Asp3542=) | |
2 | g.73572498G>T | CA347284229 | ALMS1 | c.10240G>T (p.Asp3414Tyr) c.3326G>T c.7521G>T c.4687G>T (p.Asp1563Tyr) c.7566G>T c.10621G>T (p.Asp3541Tyr) c.775G>T (p.Asp259Tyr) c.1977G>T c.9G>T c.1718G>T c.4112G>T (n.4112G>T) c.10495G>T (p.Asp3499Tyr) n.4424G>T c.10624G>T (p.Asp3542Tyr) | |
2 | g.73572499A= | CA1261021238 | ALMS1 | c.10241A= (p.Asp3414=) c.3327A= c.7522A= c.4688A= (p.Asp1563=) c.7567A= c.10622A= (p.Asp3541=) c.776A= (p.Asp259=) c.1978A= c.10A= c.1719A= c.4113A= (n.4113A=) c.10496A= (p.Asp3499=) n.4425A= c.10625A= (p.Asp3542=) | |
2 | g.73572499A>C | CA347284239 | ALMS1 | c.10241A>C (p.Asp3414Ala) c.3327A>C c.7522A>C c.4688A>C (p.Asp1563Ala) c.7567A>C c.10622A>C (p.Asp3541Ala) c.776A>C (p.Asp259Ala) c.1978A>C c.10A>C c.1719A>C c.4113A>C (n.4113A>C) c.10496A>C (p.Asp3499Ala) n.4425A>C c.10625A>C (p.Asp3542Ala) | |
2 | g.73572499A>G | CA347284244 | ALMS1 | c.10241A>G (p.Asp3414Gly) c.3327A>G c.7522A>G c.4688A>G (p.Asp1563Gly) c.7567A>G c.10622A>G (p.Asp3541Gly) c.776A>G (p.Asp259Gly) c.1978A>G c.10A>G c.1719A>G c.4113A>G (n.4113A>G) c.10496A>G (p.Asp3499Gly) n.4425A>G c.10625A>G (p.Asp3542Gly) | |
2 | g.73572499A>T | CA347284243 | ALMS1 | c.10241A>T (p.Asp3414Val) c.3327A>T c.7522A>T c.4688A>T (p.Asp1563Val) c.7567A>T c.10622A>T (p.Asp3541Val) c.776A>T (p.Asp259Val) c.1978A>T c.10A>T c.1719A>T c.4113A>T (n.4113A>T) c.10496A>T (p.Asp3499Val) n.4425A>T c.10625A>T (p.Asp3542Val) | |
2 | g.73572499_73572500insACGGG | CA534123606 | ALMS1 | c.10241_10242insACGGG (p.Asp3414GlufsTer7) c.3327_3328insACGGG c.7522_7523insACGGG c.4688_4689insACGGG (p.Asp1563GlufsTer7) c.7567_7568insACGGG c.10622_10623insACGGG (p.Asp3541GlufsTer7) c.776_777insACGGG (p.Asp259GlufsTer7) c.1978_1979insACGGG c.10_11insACGGG c.1719_1720insACGGG c.4113_4114insACGGG (n.4113_4114insACGGG) c.10496_10497insACGGG (p.Asp3499GlufsTer7) n.4425_4426insACGGG c.10625_10626insACGGG (p.Asp3542GlufsTer7) | dbSNP gnomAD v2 |
2 | g.73572499_73572500insACGGGTAGTAT | CA2533181878 | ALMS1 | c.10241_10242insACGGGTAGTAT (p.Asp3414GlufsTer9) c.3327_3328insACGGGTAGTAT c.7522_7523insACGGGTAGTAT c.4688_4689insACGGGTAGTAT (p.Asp1563GlufsTer9) c.7567_7568insACGGGTAGTAT c.10622_10623insACGGGTAGTAT (p.Asp3541GlufsTer9) c.776_777insACGGGTAGTAT (p.Asp259GlufsTer9) c.1978_1979insACGGGTAGTAT c.10_11insACGGGTAGTAT c.1719_1720insACGGGTAGTAT c.4113_4114insACGGGTAGTAT (n.4113_4114insACGGGTAGTAT) c.10496_10497insACGGGTAGTAT (p.Asp3499GlufsTer9) n.4425_4426insACGGGTAGTAT c.10625_10626insACGGGTAGTAT (p.Asp3542GlufsTer9) | |
2 | g.73572499_73572500insACGGGTAGTATT | CA1261021239 | ALMS1 | c.10241_10242insACGGGTAGTATT (p.Asp3414delinsGluArgValValPhe) c.3327_3328insACGGGTAGTATT c.7522_7523insACGGGTAGTATT c.4688_4689insACGGGTAGTATT (p.Asp1563delinsGluArgValValPhe) c.7567_7568insACGGGTAGTATT c.10622_10623insACGGGTAGTATT (p.Asp3541delinsGluArgValValPhe) c.776_777insACGGGTAGTATT (p.Asp259delinsGluArgValValPhe) c.1978_1979insACGGGTAGTATT c.10_11insACGGGTAGTATT c.1719_1720insACGGGTAGTATT c.4113_4114insACGGGTAGTATT (n.4113_4114insACGGGTAGTATT) c.10496_10497insACGGGTAGTATT (p.Asp3499delinsGluArgValValPhe) n.4425_4426insACGGGTAGTATT c.10625_10626insACGGGTAGTATT (p.Asp3542delinsGluArgValValPhe) | dbSNP |
2 | g.73572500T>A | CA347284249 | ALMS1 | c.10242T>A (p.Asp3414Glu) c.3328T>A c.7523T>A c.4689T>A (p.Asp1563Glu) c.7568T>A c.10623T>A (p.Asp3541Glu) c.777T>A (p.Asp259Glu) c.1979T>A c.11T>A c.1720T>A c.4114T>A (n.4114T>A) c.10497T>A (p.Asp3499Glu) n.4426T>A c.10626T>A (p.Asp3542Glu) | |
2 | g.73572500T>C | CA427024033 | ALMS1 | c.10242T>C (p.Asp3414=) c.3328T>C c.7523T>C c.4689T>C (p.Asp1563=) c.7568T>C c.10623T>C (p.Asp3541=) c.777T>C (p.Asp259=) c.1979T>C c.11T>C c.1720T>C c.4114T>C (n.4114T>C) c.10497T>C (p.Asp3499=) n.4426T>C c.10626T>C (p.Asp3542=) | |
2 | g.73572500T>G | CA347284253 | ALMS1 | c.10242T>G (p.Asp3414Glu) c.3328T>G c.7523T>G c.4689T>G (p.Asp1563Glu) c.7568T>G c.10623T>G (p.Asp3541Glu) c.777T>G (p.Asp259Glu) c.1979T>G c.11T>G c.1720T>G c.4114T>G (n.4114T>G) c.10497T>G (p.Asp3499Glu) n.4426T>G c.10626T>G (p.Asp3542Glu) | |
2 | g.73572501T>A | CA347284258 | ALMS1 | c.10243T>A (p.Tyr3415Asn) c.3329T>A c.7524T>A c.4690T>A (p.Tyr1564Asn) c.7569T>A c.10624T>A (p.Tyr3542Asn) c.778T>A (p.Tyr260Asn) c.1980T>A c.12T>A c.1721T>A c.4115T>A (n.4115T>A) c.10498T>A (p.Tyr3500Asn) n.4427T>A c.10627T>A (p.Tyr3543Asn) | |
2 | g.73572501T>C | CA347284261 | ALMS1 | c.10243T>C (p.Tyr3415His) c.3329T>C c.7524T>C c.4690T>C (p.Tyr1564His) c.7569T>C c.10624T>C (p.Tyr3542His) c.778T>C (p.Tyr260His) c.1980T>C c.12T>C c.1721T>C c.4115T>C (n.4115T>C) c.10498T>C (p.Tyr3500His) n.4427T>C c.10627T>C (p.Tyr3543His) | |
2 | g.73572501T>G | CA347284264 | ALMS1 | c.10243T>G (p.Tyr3415Asp) c.3329T>G c.7524T>G c.4690T>G (p.Tyr1564Asp) c.7569T>G c.10624T>G (p.Tyr3542Asp) c.778T>G (p.Tyr260Asp) c.1980T>G c.12T>G c.1721T>G c.4115T>G (n.4115T>G) c.10498T>G (p.Tyr3500Asp) n.4427T>G c.10627T>G (p.Tyr3543Asp) | gnomAD v4 |
2 | g.73572502A= | CA1261021240 | ALMS1 | c.10244A= (p.Tyr3415=) c.3330A= c.7525A= c.4691A= (p.Tyr1564=) c.7570A= c.10625A= (p.Tyr3542=) c.779A= (p.Tyr260=) c.1981A= c.13A= c.1722A= c.4116A= (n.4116A=) c.10499A= (p.Tyr3500=) n.4428A= c.10628A= (p.Tyr3543=) | |
2 | g.73572502A>C | CA347284268 | ALMS1 | c.10244A>C (p.Tyr3415Ser) c.3330A>C c.7525A>C c.4691A>C (p.Tyr1564Ser) c.7570A>C c.10625A>C (p.Tyr3542Ser) c.779A>C (p.Tyr260Ser) c.1981A>C c.13A>C c.1722A>C c.4116A>C (n.4116A>C) c.10499A>C (p.Tyr3500Ser) n.4428A>C c.10628A>C (p.Tyr3543Ser) | |
2 | g.73572502A>G | CA1715036 | ALMS1 | c.10244A>G (p.Tyr3415Cys) c.3330A>G c.7525A>G c.4691A>G (p.Tyr1564Cys) c.7570A>G c.10625A>G (p.Tyr3542Cys) c.779A>G (p.Tyr260Cys) c.1981A>G c.13A>G c.1722A>G c.4116A>G (n.4116A>G) c.10499A>G (p.Tyr3500Cys) n.4428A>G c.10628A>G (p.Tyr3543Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572502A>T | CA347284273 | ALMS1 | c.10244A>T (p.Tyr3415Phe) c.3330A>T c.7525A>T c.4691A>T (p.Tyr1564Phe) c.7570A>T c.10625A>T (p.Tyr3542Phe) c.779A>T (p.Tyr260Phe) c.1981A>T c.13A>T c.1722A>T c.4116A>T (n.4116A>T) c.10499A>T (p.Tyr3500Phe) n.4428A>T c.10628A>T (p.Tyr3543Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572503T>A | CA347284278 | ALMS1 | c.10245T>A (p.Tyr3415Ter) c.3331T>A c.7526T>A c.4692T>A (p.Tyr1564Ter) c.7571T>A c.10626T>A (p.Tyr3542Ter) c.780T>A (p.Tyr260Ter) c.1982T>A c.14T>A c.1723T>A c.4117T>A (n.4117T>A) c.10500T>A (p.Tyr3500Ter) n.4429T>A c.10629T>A (p.Tyr3543Ter) | |
2 | g.73572503T>C | CA427024040 | ALMS1 | c.10245T>C (p.Tyr3415=) c.3331T>C c.7526T>C c.4692T>C (p.Tyr1564=) c.7571T>C c.10626T>C (p.Tyr3542=) c.780T>C (p.Tyr260=) c.1982T>C c.14T>C c.1723T>C c.4117T>C (n.4117T>C) c.10500T>C (p.Tyr3500=) n.4429T>C c.10629T>C (p.Tyr3543=) | |
2 | g.73572503T>G | CA347284281 | ALMS1 | c.10245T>G (p.Tyr3415Ter) c.3331T>G c.7526T>G c.4692T>G (p.Tyr1564Ter) c.7571T>G c.10626T>G (p.Tyr3542Ter) c.780T>G (p.Tyr260Ter) c.1982T>G c.14T>G c.1723T>G c.4117T>G (n.4117T>G) c.10500T>G (p.Tyr3500Ter) n.4429T>G c.10629T>G (p.Tyr3543Ter) | |
2 | g.73572504A>C | CA347284285 | ALMS1 | c.10246A>C (p.Thr3416Pro) c.3332A>C c.7527A>C c.4693A>C (p.Thr1565Pro) c.7572A>C c.10627A>C (p.Thr3543Pro) c.781A>C (p.Thr261Pro) c.1983A>C c.15A>C c.1724A>C c.4118A>C (n.4118A>C) c.10501A>C (p.Thr3501Pro) n.4430A>C c.10630A>C (p.Thr3544Pro) | |
2 | g.73572504A>G | CA347284287 | ALMS1 | c.10246A>G (p.Thr3416Ala) c.3332A>G c.7527A>G c.4693A>G (p.Thr1565Ala) c.7572A>G c.10627A>G (p.Thr3543Ala) c.781A>G (p.Thr261Ala) c.1983A>G c.15A>G c.1724A>G c.4118A>G (n.4118A>G) c.10501A>G (p.Thr3501Ala) n.4430A>G c.10630A>G (p.Thr3544Ala) | gnomAD v4 |
2 | g.73572504A>T | CA347284290 | ALMS1 | c.10246A>T (p.Thr3416Ser) c.3332A>T c.7527A>T c.4693A>T (p.Thr1565Ser) c.7572A>T c.10627A>T (p.Thr3543Ser) c.781A>T (p.Thr261Ser) c.1983A>T c.15A>T c.1724A>T c.4118A>T (n.4118A>T) c.10501A>T (p.Thr3501Ser) n.4430A>T c.10630A>T (p.Thr3544Ser) | |
2 | g.73572505C>A | CA347284293 | ALMS1 | c.10247C>A (p.Thr3416Asn) c.3333C>A c.7528C>A c.4694C>A (p.Thr1565Asn) c.7573C>A c.10628C>A (p.Thr3543Asn) c.782C>A (p.Thr261Asn) c.1984C>A c.16C>A c.1725C>A c.4119C>A (n.4119C>A) c.10502C>A (p.Thr3501Asn) n.4431C>A c.10631C>A (p.Thr3544Asn) | |
2 | g.73572505C= | CA1261021241 | ALMS1 | c.10247C= (p.Thr3416=) c.3333C= c.7528C= c.4694C= (p.Thr1565=) c.7573C= c.10628C= (p.Thr3543=) c.782C= (p.Thr261=) c.1984C= c.16C= c.1725C= c.4119C= (n.4119C=) c.10502C= (p.Thr3501=) n.4431C= c.10631C= (p.Thr3544=) | |
2 | g.73572505C>G | CA349169 | ALMS1 | c.10247C>G (p.Thr3416Ser) c.3333C>G c.7528C>G c.4694C>G (p.Thr1565Ser) c.7573C>G c.10628C>G (p.Thr3543Ser) c.782C>G (p.Thr261Ser) c.1984C>G c.16C>G c.1725C>G c.4119C>G (n.4119C>G) c.10502C>G (p.Thr3501Ser) n.4431C>G c.10631C>G (p.Thr3544Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572505C>T | CA347284297 | ALMS1 | c.10247C>T (p.Thr3416Ile) c.3333C>T c.7528C>T c.4694C>T (p.Thr1565Ile) c.7573C>T c.10628C>T (p.Thr3543Ile) c.782C>T (p.Thr261Ile) c.1984C>T c.16C>T c.1725C>T c.4119C>T (n.4119C>T) c.10502C>T (p.Thr3501Ile) n.4431C>T c.10631C>T (p.Thr3544Ile) | |
2 | g.73572506C>A | CA427024046 | ALMS1 | c.10248C>A (p.Thr3416=) c.3334C>A c.7529C>A c.4695C>A (p.Thr1565=) c.7574C>A c.10629C>A (p.Thr3543=) c.783C>A (p.Thr261=) c.1985C>A c.17C>A c.1726C>A c.4120C>A (n.4120C>A) c.10503C>A (p.Thr3501=) n.4432C>A c.10632C>A (p.Thr3544=) | |
2 | g.73572506C= | CA1261021242 | ALMS1 | c.10248C= (p.Thr3416=) c.3334C= c.7529C= c.4695C= (p.Thr1565=) c.7574C= c.10629C= (p.Thr3543=) c.783C= (p.Thr261=) c.1985C= c.17C= c.1726C= c.4120C= (n.4120C=) c.10503C= (p.Thr3501=) n.4432C= c.10632C= (p.Thr3544=) | |
2 | g.73572506C>G | CA427024047 | ALMS1 | c.10248C>G (p.Thr3416=) c.3334C>G c.7529C>G c.4695C>G (p.Thr1565=) c.7574C>G c.10629C>G (p.Thr3543=) c.783C>G (p.Thr261=) c.1985C>G c.17C>G c.1726C>G c.4120C>G (n.4120C>G) c.10503C>G (p.Thr3501=) n.4432C>G c.10632C>G (p.Thr3544=) | ClinVar dbSNP gnomAD v4 |
2 | g.73572506C>T | CA427024048 | ALMS1 | c.10248C>T (p.Thr3416=) c.3334C>T c.7529C>T c.4695C>T (p.Thr1565=) c.7574C>T c.10629C>T (p.Thr3543=) c.783C>T (p.Thr261=) c.1985C>T c.17C>T c.1726C>T c.4120C>T (n.4120C>T) c.10503C>T (p.Thr3501=) n.4432C>T c.10632C>T (p.Thr3544=) | gnomAD v4 |
2 | g.73572507A= | CA1261021243 | ALMS1 | c.10249A= (p.Arg3417=) c.3335A= c.7530A= c.4696A= (p.Arg1566=) c.7575A= c.10630A= (p.Arg3544=) c.784A= (p.Arg262=) c.1986A= c.18A= c.1727A= c.4121A= (n.4121A=) c.10504A= (p.Arg3502=) n.4433A= c.10633A= (p.Arg3545=) | |
2 | g.73572507A>C | CA427024051 | ALMS1 | c.10249A>C (p.Arg3417=) c.3335A>C c.7530A>C c.4696A>C (p.Arg1566=) c.7575A>C c.10630A>C (p.Arg3544=) c.784A>C (p.Arg262=) c.1986A>C c.18A>C c.1727A>C c.4121A>C (n.4121A>C) c.10504A>C (p.Arg3502=) n.4433A>C c.10633A>C (p.Arg3545=) | |
2 | g.73572507A>G | CA1715037 | ALMS1 | c.10249A>G (p.Arg3417Gly) c.3335A>G c.7530A>G c.4696A>G (p.Arg1566Gly) c.7575A>G c.10630A>G (p.Arg3544Gly) c.784A>G (p.Arg262Gly) c.1986A>G c.18A>G c.1727A>G c.4121A>G (n.4121A>G) c.10504A>G (p.Arg3502Gly) n.4433A>G c.10633A>G (p.Arg3545Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572507A>T | CA347284304 | ALMS1 | c.10249A>T (p.Arg3417Ter) c.3335A>T c.7530A>T c.4696A>T (p.Arg1566Ter) c.7575A>T c.10630A>T (p.Arg3544Ter) c.784A>T (p.Arg262Ter) c.1986A>T c.18A>T c.1727A>T c.4121A>T (n.4121A>T) c.10504A>T (p.Arg3502Ter) n.4433A>T c.10633A>T (p.Arg3545Ter) | |
2 | g.73572508G>A | CA347284309 | ALMS1 | c.10250G>A (p.Arg3417Lys) c.3336G>A c.7531G>A c.4697G>A (p.Arg1566Lys) c.7576G>A c.10631G>A (p.Arg3544Lys) c.785G>A (p.Arg262Lys) c.1987G>A c.19G>A c.1728G>A c.4122G>A (n.4122G>A) c.10505G>A (p.Arg3502Lys) n.4434G>A c.10634G>A (p.Arg3545Lys) | |
2 | g.73572508G>C | CA347284311 | ALMS1 | c.10250G>C (p.Arg3417Thr) c.3336G>C c.7531G>C c.4697G>C (p.Arg1566Thr) c.7576G>C c.10631G>C (p.Arg3544Thr) c.785G>C (p.Arg262Thr) c.1987G>C c.19G>C c.1728G>C c.4122G>C (n.4122G>C) c.10505G>C (p.Arg3502Thr) n.4434G>C c.10634G>C (p.Arg3545Thr) | |
2 | g.73572508G>T | CA347284322 | ALMS1 | c.10250G>T (p.Arg3417Ile) c.3336G>T c.7531G>T c.4697G>T (p.Arg1566Ile) c.7576G>T c.10631G>T (p.Arg3544Ile) c.785G>T (p.Arg262Ile) c.1987G>T c.19G>T c.1728G>T c.4122G>T (n.4122G>T) c.10505G>T (p.Arg3502Ile) n.4434G>T c.10634G>T (p.Arg3545Ile) | |
2 | g.73572509A>C | CA347284324 | ALMS1 | c.10251A>C (p.Arg3417Ser) c.3337A>C c.7532A>C c.4698A>C (p.Arg1566Ser) c.7577A>C c.10632A>C (p.Arg3544Ser) c.786A>C (p.Arg262Ser) c.1988A>C c.20A>C c.1729A>C c.4123A>C (n.4123A>C) c.10506A>C (p.Arg3502Ser) n.4435A>C c.10635A>C (p.Arg3545Ser) | |
2 | g.73572509A>G | CA427024056 | ALMS1 | c.10251A>G (p.Arg3417=) c.3337A>G c.7532A>G c.4698A>G (p.Arg1566=) c.7577A>G c.10632A>G (p.Arg3544=) c.786A>G (p.Arg262=) c.1988A>G c.20A>G c.1729A>G c.4123A>G (n.4123A>G) c.10506A>G (p.Arg3502=) n.4435A>G c.10635A>G (p.Arg3545=) | ClinVar |
2 | g.73572509A>T | CA347284326 | ALMS1 | c.10251A>T (p.Arg3417Ser) c.3337A>T c.7532A>T c.4698A>T (p.Arg1566Ser) c.7577A>T c.10632A>T (p.Arg3544Ser) c.786A>T (p.Arg262Ser) c.1988A>T c.20A>T c.1729A>T c.4123A>T (n.4123A>T) c.10506A>T (p.Arg3502Ser) n.4435A>T c.10635A>T (p.Arg3545Ser) | |
2 | g.73572510A>C | CA347284329 | ALMS1 | c.10252A>C (p.Ile3418Leu) c.3338A>C c.7533A>C c.4699A>C (p.Ile1567Leu) c.7578A>C c.10633A>C (p.Ile3545Leu) c.787A>C (p.Ile263Leu) c.1989A>C c.21A>C c.1730A>C c.4124A>C (n.4124A>C) c.10507A>C (p.Ile3503Leu) n.4436A>C c.10636A>C (p.Ile3546Leu) | |
2 | g.73572510A>G | CA347284332 | ALMS1 | c.10252A>G (p.Ile3418Val) c.3338A>G c.7533A>G c.4699A>G (p.Ile1567Val) c.7578A>G c.10633A>G (p.Ile3545Val) c.787A>G (p.Ile263Val) c.1989A>G c.21A>G c.1730A>G c.4124A>G (n.4124A>G) c.10507A>G (p.Ile3503Val) n.4436A>G c.10636A>G (p.Ile3546Val) | |
2 | g.73572510A>T | CA347284336 | ALMS1 | c.10252A>T (p.Ile3418Leu) c.3338A>T c.7533A>T c.4699A>T (p.Ile1567Leu) c.7578A>T c.10633A>T (p.Ile3545Leu) c.787A>T (p.Ile263Leu) c.1989A>T c.21A>T c.1730A>T c.4124A>T (n.4124A>T) c.10507A>T (p.Ile3503Leu) n.4436A>T c.10636A>T (p.Ile3546Leu) | |
2 | g.73572511T>A | CA347284358 | ALMS1 | c.10253T>A (p.Ile3418Lys) c.3339T>A c.7534T>A c.4700T>A (p.Ile1567Lys) c.7579T>A c.10634T>A (p.Ile3545Lys) c.788T>A (p.Ile263Lys) c.1990T>A c.22T>A c.1731T>A c.4125T>A (n.4125T>A) c.10508T>A (p.Ile3503Lys) n.4437T>A c.10637T>A (p.Ile3546Lys) | |
2 | g.73572511T>C | CA347284354 | ALMS1 | c.10253T>C (p.Ile3418Thr) c.3339T>C c.7534T>C c.4700T>C (p.Ile1567Thr) c.7579T>C c.10634T>C (p.Ile3545Thr) c.788T>C (p.Ile263Thr) c.1990T>C c.22T>C c.1731T>C c.4125T>C (n.4125T>C) c.10508T>C (p.Ile3503Thr) n.4437T>C c.10637T>C (p.Ile3546Thr) | |
2 | g.73572511T>G | CA347284340 | ALMS1 | c.10253T>G (p.Ile3418Arg) c.3339T>G c.7534T>G c.4700T>G (p.Ile1567Arg) c.7579T>G c.10634T>G (p.Ile3545Arg) c.788T>G (p.Ile263Arg) c.1990T>G c.22T>G c.1731T>G c.4125T>G (n.4125T>G) c.10508T>G (p.Ile3503Arg) n.4437T>G c.10637T>G (p.Ile3546Arg) | |
2 | g.73572512A= | CA1261021244 | ALMS1 | c.10254A= (p.Ile3418=) c.3340A= c.7535A= c.4701A= (p.Ile1567=) c.7580A= c.10635A= (p.Ile3545=) c.789A= (p.Ile263=) c.1991A= c.23A= c.1732A= c.4126A= (n.4126A=) c.10509A= (p.Ile3503=) n.4438A= c.10638A= (p.Ile3546=) | |
2 | g.73572512A>C | CA427024059 | ALMS1 | c.10254A>C (p.Ile3418=) c.3340A>C c.7535A>C c.4701A>C (p.Ile1567=) c.7580A>C c.10635A>C (p.Ile3545=) c.789A>C (p.Ile263=) c.1991A>C c.23A>C c.1732A>C c.4126A>C (n.4126A>C) c.10509A>C (p.Ile3503=) n.4438A>C c.10638A>C (p.Ile3546=) | |
2 | g.73572512A>G | CA1715038 | ALMS1 | c.10254A>G (p.Ile3418Met) c.3340A>G c.7535A>G c.4701A>G (p.Ile1567Met) c.7580A>G c.10635A>G (p.Ile3545Met) c.789A>G (p.Ile263Met) c.1991A>G c.23A>G c.1732A>G c.4126A>G (n.4126A>G) c.10509A>G (p.Ile3503Met) n.4438A>G c.10638A>G (p.Ile3546Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572512A>T | CA427024062 | ALMS1 | c.10254A>T (p.Ile3418=) c.3340A>T c.7535A>T c.4701A>T (p.Ile1567=) c.7580A>T c.10635A>T (p.Ile3545=) c.789A>T (p.Ile263=) c.1991A>T c.23A>T c.1732A>T c.4126A>T (n.4126A>T) c.10509A>T (p.Ile3503=) n.4438A>T c.10638A>T (p.Ile3546=) | |
2 | g.73572513A= | CA1261021245 | ALMS1 | c.10255A= (p.Lys3419=) c.3341A= c.7536A= c.4702A= (p.Lys1568=) c.7581A= c.10636A= (p.Lys3546=) c.790A= (p.Lys264=) c.1992A= c.24A= c.1733A= c.4127A= (n.4127A=) c.10510A= (p.Lys3504=) n.4439A= c.10639A= (p.Lys3547=) | |
2 | g.73572513A>C | CA347284365 | ALMS1 | c.10255A>C (p.Lys3419Gln) c.3341A>C c.7536A>C c.4702A>C (p.Lys1568Gln) c.7581A>C c.10636A>C (p.Lys3546Gln) c.790A>C (p.Lys264Gln) c.1992A>C c.24A>C c.1733A>C c.4127A>C (n.4127A>C) c.10510A>C (p.Lys3504Gln) n.4439A>C c.10639A>C (p.Lys3547Gln) | |
2 | g.73572513A>G | CA347284368 | ALMS1 | c.10255A>G (p.Lys3419Glu) c.3341A>G c.7536A>G c.4702A>G (p.Lys1568Glu) c.7581A>G c.10636A>G (p.Lys3546Glu) c.790A>G (p.Lys264Glu) c.1992A>G c.24A>G c.1733A>G c.4127A>G (n.4127A>G) c.10510A>G (p.Lys3504Glu) n.4439A>G c.10639A>G (p.Lys3547Glu) | dbSNP |
2 | g.73572513A>T | CA347284370 | ALMS1 | c.10255A>T (p.Lys3419Ter) c.3341A>T c.7536A>T c.4702A>T (p.Lys1568Ter) c.7581A>T c.10636A>T (p.Lys3546Ter) c.790A>T (p.Lys264Ter) c.1992A>T c.24A>T c.1733A>T c.4127A>T (n.4127A>T) c.10510A>T (p.Lys3504Ter) n.4439A>T c.10639A>T (p.Lys3547Ter) | |
2 | g.73572514A>C | CA347284375 | ALMS1 | c.10256A>C (p.Lys3419Thr) c.3342A>C c.7537A>C c.4703A>C (p.Lys1568Thr) c.7582A>C c.10637A>C (p.Lys3546Thr) c.791A>C (p.Lys264Thr) c.1993A>C c.25A>C c.1734A>C c.4128A>C (n.4128A>C) c.10511A>C (p.Lys3504Thr) n.4440A>C c.10640A>C (p.Lys3547Thr) | |
2 | g.73572514A>G | CA347284379 | ALMS1 | c.10256A>G (p.Lys3419Arg) c.3342A>G c.7537A>G c.4703A>G (p.Lys1568Arg) c.7582A>G c.10637A>G (p.Lys3546Arg) c.791A>G (p.Lys264Arg) c.1993A>G c.25A>G c.1734A>G c.4128A>G (n.4128A>G) c.10511A>G (p.Lys3504Arg) n.4440A>G c.10640A>G (p.Lys3547Arg) | |
2 | g.73572514A>T | CA347284382 | ALMS1 | c.10256A>T (p.Lys3419Met) c.3342A>T c.7537A>T c.4703A>T (p.Lys1568Met) c.7582A>T c.10637A>T (p.Lys3546Met) c.791A>T (p.Lys264Met) c.1993A>T c.25A>T c.1734A>T c.4128A>T (n.4128A>T) c.10511A>T (p.Lys3504Met) n.4440A>T c.10640A>T (p.Lys3547Met) | |
2 | g.73572515G>A | CA427024068 | ALMS1 | c.10257G>A (p.Lys3419=) c.3343G>A c.7538G>A c.4704G>A (p.Lys1568=) c.7583G>A c.10638G>A (p.Lys3546=) c.792G>A (p.Lys264=) c.1994G>A c.26G>A c.1735G>A c.4129G>A (n.4129G>A) c.10512G>A (p.Lys3504=) n.4441G>A c.10641G>A (p.Lys3547=) | gnomAD v4 |
2 | g.73572515G>C | CA347284389 | ALMS1 | c.10257G>C (p.Lys3419Asn) c.3343G>C c.7538G>C c.4704G>C (p.Lys1568Asn) c.7583G>C c.10638G>C (p.Lys3546Asn) c.792G>C (p.Lys264Asn) c.1994G>C c.26G>C c.1735G>C c.4129G>C (n.4129G>C) c.10512G>C (p.Lys3504Asn) n.4441G>C c.10641G>C (p.Lys3547Asn) | gnomAD v4 |
2 | g.73572515G>T | CA347284393 | ALMS1 | c.10257G>T (p.Lys3419Asn) c.3343G>T c.7538G>T c.4704G>T (p.Lys1568Asn) c.7583G>T c.10638G>T (p.Lys3546Asn) c.792G>T (p.Lys264Asn) c.1994G>T c.26G>T c.1735G>T c.4129G>T (n.4129G>T) c.10512G>T (p.Lys3504Asn) n.4441G>T c.10641G>T (p.Lys3547Asn) | |
2 | g.73572516A= | CA1261021246 | ALMS1 | c.10258A= (p.Ser3420=) c.3344A= c.7539A= c.4705A= (p.Ser1569=) c.7584A= c.10639A= (p.Ser3547=) c.793A= (p.Ser265=) c.1995A= c.27A= c.1736A= c.4130A= (n.4130A=) c.10513A= (p.Ser3505=) n.4442A= c.10642A= (p.Ser3548=) | |
2 | g.73572516A>C | CA347284398 | ALMS1 | c.10258A>C (p.Ser3420Arg) c.3344A>C c.7539A>C c.4705A>C (p.Ser1569Arg) c.7584A>C c.10639A>C (p.Ser3547Arg) c.793A>C (p.Ser265Arg) c.1995A>C c.27A>C c.1736A>C c.4130A>C (n.4130A>C) c.10513A>C (p.Ser3505Arg) n.4442A>C c.10642A>C (p.Ser3548Arg) | |
2 | g.73572516A>G | CA347284401 | ALMS1 | c.10258A>G (p.Ser3420Gly) c.3344A>G c.7539A>G c.4705A>G (p.Ser1569Gly) c.7584A>G c.10639A>G (p.Ser3547Gly) c.793A>G (p.Ser265Gly) c.1995A>G c.27A>G c.1736A>G c.4130A>G (n.4130A>G) c.10513A>G (p.Ser3505Gly) n.4442A>G c.10642A>G (p.Ser3548Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572516A>T | CA347284404 | ALMS1 | c.10258A>T (p.Ser3420Cys) c.3344A>T c.7539A>T c.4705A>T (p.Ser1569Cys) c.7584A>T c.10639A>T (p.Ser3547Cys) c.793A>T (p.Ser265Cys) c.1995A>T c.27A>T c.1736A>T c.4130A>T (n.4130A>T) c.10513A>T (p.Ser3505Cys) n.4442A>T c.10642A>T (p.Ser3548Cys) | |
2 | g.73572517G>A | CA347284413 | ALMS1 | c.10259G>A (p.Ser3420Asn) c.3345G>A c.7540G>A c.4706G>A (p.Ser1569Asn) c.7585G>A c.10640G>A (p.Ser3547Asn) c.794G>A (p.Ser265Asn) c.1996G>A c.28G>A c.1737G>A c.4131G>A (n.4131G>A) c.10514G>A (p.Ser3505Asn) n.4443G>A c.10643G>A (p.Ser3548Asn) | |
2 | g.73572517G>C | CA347284416 | ALMS1 | c.10259G>C (p.Ser3420Thr) c.3345G>C c.7540G>C c.4706G>C (p.Ser1569Thr) c.7585G>C c.10640G>C (p.Ser3547Thr) c.794G>C (p.Ser265Thr) c.1996G>C c.28G>C c.1737G>C c.4131G>C (n.4131G>C) c.10514G>C (p.Ser3505Thr) n.4443G>C c.10643G>C (p.Ser3548Thr) | |
2 | g.73572517G>T | CA347284410 | ALMS1 | c.10259G>T (p.Ser3420Ile) c.3345G>T c.7540G>T c.4706G>T (p.Ser1569Ile) c.7585G>T c.10640G>T (p.Ser3547Ile) c.794G>T (p.Ser265Ile) c.1996G>T c.28G>T c.1737G>T c.4131G>T (n.4131G>T) c.10514G>T (p.Ser3505Ile) n.4443G>T c.10643G>T (p.Ser3548Ile) | |
2 | g.73572518C>A | CA347284418 | ALMS1 | c.10260C>A (p.Ser3420Arg) c.3346C>A c.7541C>A c.4707C>A (p.Ser1569Arg) c.7586C>A c.10641C>A (p.Ser3547Arg) c.795C>A (p.Ser265Arg) c.1997C>A c.29C>A c.1738C>A c.4132C>A (n.4132C>A) c.10515C>A (p.Ser3505Arg) n.4444C>A c.10644C>A (p.Ser3548Arg) | |
2 | g.73572518C= | CA1261021247 | ALMS1 | c.10260C= (p.Ser3420=) c.3346C= c.7541C= c.4707C= (p.Ser1569=) c.7586C= c.10641C= (p.Ser3547=) c.795C= (p.Ser265=) c.1997C= c.29C= c.1738C= c.4132C= (n.4132C=) c.10515C= (p.Ser3505=) n.4444C= c.10644C= (p.Ser3548=) | |
2 | g.73572518C>G | CA347284419 | ALMS1 | c.10260C>G (p.Ser3420Arg) c.3346C>G c.7541C>G c.4707C>G (p.Ser1569Arg) c.7586C>G c.10641C>G (p.Ser3547Arg) c.795C>G (p.Ser265Arg) c.1997C>G c.29C>G c.1738C>G c.4132C>G (n.4132C>G) c.10515C>G (p.Ser3505Arg) n.4444C>G c.10644C>G (p.Ser3548Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.73572518C>T | CA50386318 | ALMS1 | c.10260C>T (p.Ser3420=) c.3346C>T c.7541C>T c.4707C>T (p.Ser1569=) c.7586C>T c.10641C>T (p.Ser3547=) c.795C>T (p.Ser265=) c.1997C>T c.29C>T c.1738C>T c.4132C>T (n.4132C>T) c.10515C>T (p.Ser3505=) n.4444C>T c.10644C>T (p.Ser3548=) | ClinVar dbSNP gnomAD v4 |
2 | g.73572519C>A | CA347284425 | ALMS1 | c.10261C>A (p.Leu3421Ile) c.3347C>A c.7542C>A c.4708C>A (p.Leu1570Ile) c.7587C>A c.10642C>A (p.Leu3548Ile) c.796C>A (p.Leu266Ile) c.1998C>A c.30C>A c.1739C>A c.4133C>A (n.4133C>A) c.10516C>A (p.Leu3506Ile) n.4445C>A c.10645C>A (p.Leu3549Ile) | |
2 | g.73572519C= | CA1261021248 | ALMS1 | c.10261C= (p.Leu3421=) c.3347C= c.7542C= c.4708C= (p.Leu1570=) c.7587C= c.10642C= (p.Leu3548=) c.796C= (p.Leu266=) c.1998C= c.30C= c.1739C= c.4133C= (n.4133C=) c.10516C= (p.Leu3506=) n.4445C= c.10645C= (p.Leu3549=) | |
2 | g.73572519C>G | CA347284428 | ALMS1 | c.10261C>G (p.Leu3421Val) c.3347C>G c.7542C>G c.4708C>G (p.Leu1570Val) c.7587C>G c.10642C>G (p.Leu3548Val) c.796C>G (p.Leu266Val) c.1998C>G c.30C>G c.1739C>G c.4133C>G (n.4133C>G) c.10516C>G (p.Leu3506Val) n.4445C>G c.10645C>G (p.Leu3549Val) | |
2 | g.73572519C>T | CA50386332 | ALMS1 | c.10261C>T (p.Leu3421Phe) c.3347C>T c.7542C>T c.4708C>T (p.Leu1570Phe) c.7587C>T c.10642C>T (p.Leu3548Phe) c.796C>T (p.Leu266Phe) c.1998C>T c.30C>T c.1739C>T c.4133C>T (n.4133C>T) c.10516C>T (p.Leu3506Phe) n.4445C>T c.10645C>T (p.Leu3549Phe) | dbSNP gnomAD v4 |
2 | g.73572520T>A | CA347284441 | ALMS1 | c.10262T>A (p.Leu3421His) c.3348T>A c.7543T>A c.4709T>A (p.Leu1570His) c.7588T>A c.10643T>A (p.Leu3548His) c.797T>A (p.Leu266His) c.1999T>A c.31T>A c.1740T>A c.4134T>A (n.4134T>A) c.10517T>A (p.Leu3506His) n.4446T>A c.10646T>A (p.Leu3549His) | ClinVar dbSNP |
2 | g.73572520T>C | CA347284435 | ALMS1 | c.10262T>C (p.Leu3421Pro) c.3348T>C c.7543T>C c.4709T>C (p.Leu1570Pro) c.7588T>C c.10643T>C (p.Leu3548Pro) c.797T>C (p.Leu266Pro) c.1999T>C c.31T>C c.1740T>C c.4134T>C (n.4134T>C) c.10517T>C (p.Leu3506Pro) n.4446T>C c.10646T>C (p.Leu3549Pro) | |
2 | g.73572520T>G | CA347284439 | ALMS1 | c.10262T>G (p.Leu3421Arg) c.3348T>G c.7543T>G c.4709T>G (p.Leu1570Arg) c.7588T>G c.10643T>G (p.Leu3548Arg) c.797T>G (p.Leu266Arg) c.1999T>G c.31T>G c.1740T>G c.4134T>G (n.4134T>G) c.10517T>G (p.Leu3506Arg) n.4446T>G c.10646T>G (p.Leu3549Arg) | |
2 | g.73572520T= | CA1261021249 | ALMS1 | c.10262T= (p.Leu3421=) c.3348T= c.7543T= c.4709T= (p.Leu1570=) c.7588T= c.10643T= (p.Leu3548=) c.797T= (p.Leu266=) c.1999T= c.31T= c.1740T= c.4134T= (n.4134T=) c.10517T= (p.Leu3506=) n.4446T= c.10646T= (p.Leu3549=) | |
2 | g.73572521C>A | CA427024074 | ALMS1 | c.10263C>A (p.Leu3421=) c.3349C>A c.7544C>A c.4710C>A (p.Leu1570=) c.7589C>A c.10644C>A (p.Leu3548=) c.798C>A (p.Leu266=) c.2000C>A c.32C>A c.1741C>A c.4135C>A (n.4135C>A) c.10518C>A (p.Leu3506=) n.4447C>A c.10647C>A (p.Leu3549=) | |
2 | g.73572521C= | CA1261021250 | ALMS1 | c.10263C= (p.Leu3421=) c.3349C= c.7544C= c.4710C= (p.Leu1570=) c.7589C= c.10644C= (p.Leu3548=) c.798C= (p.Leu266=) c.2000C= c.32C= c.1741C= c.4135C= (n.4135C=) c.10518C= (p.Leu3506=) n.4447C= c.10647C= (p.Leu3549=) | |
2 | g.73572521C>G | CA427024075 | ALMS1 | c.10263C>G (p.Leu3421=) c.3349C>G c.7544C>G c.4710C>G (p.Leu1570=) c.7589C>G c.10644C>G (p.Leu3548=) c.798C>G (p.Leu266=) c.2000C>G c.32C>G c.1741C>G c.4135C>G (n.4135C>G) c.10518C>G (p.Leu3506=) n.4447C>G c.10647C>G (p.Leu3549=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572521C>T | CA427024076 | ALMS1 | c.10263C>T (p.Leu3421=) c.3349C>T c.7544C>T c.4710C>T (p.Leu1570=) c.7589C>T c.10644C>T (p.Leu3548=) c.798C>T (p.Leu266=) c.2000C>T c.32C>T c.1741C>T c.4135C>T (n.4135C>T) c.10518C>T (p.Leu3506=) n.4447C>T c.10647C>T (p.Leu3549=) | |
2 | g.73572522A>C | CA347284444 | ALMS1 | c.10264A>C (p.Ser3422Arg) c.3350A>C c.7545A>C c.4711A>C (p.Ser1571Arg) c.7590A>C c.10645A>C (p.Ser3549Arg) c.799A>C (p.Ser267Arg) c.2001A>C c.33A>C c.1742A>C c.4136A>C (n.4136A>C) c.10519A>C (p.Ser3507Arg) n.4448A>C c.10648A>C (p.Ser3550Arg) | |
2 | g.73572522A>G | CA347284446 | ALMS1 | c.10264A>G (p.Ser3422Gly) c.3350A>G c.7545A>G c.4711A>G (p.Ser1571Gly) c.7590A>G c.10645A>G (p.Ser3549Gly) c.799A>G (p.Ser267Gly) c.2001A>G c.33A>G c.1742A>G c.4136A>G (n.4136A>G) c.10519A>G (p.Ser3507Gly) n.4448A>G c.10648A>G (p.Ser3550Gly) | |
2 | g.73572522A>T | CA347284448 | ALMS1 | c.10264A>T (p.Ser3422Cys) c.3350A>T c.7545A>T c.4711A>T (p.Ser1571Cys) c.7590A>T c.10645A>T (p.Ser3549Cys) c.799A>T (p.Ser267Cys) c.2001A>T c.33A>T c.1742A>T c.4136A>T (n.4136A>T) c.10519A>T (p.Ser3507Cys) n.4448A>T c.10648A>T (p.Ser3550Cys) | |
2 | g.73572523G>A | CA347284451 | ALMS1 | c.10265G>A (p.Ser3422Asn) c.3351G>A c.7546G>A c.4712G>A (p.Ser1571Asn) c.7591G>A c.10646G>A (p.Ser3549Asn) c.800G>A (p.Ser267Asn) c.2002G>A c.34G>A c.1743G>A c.4137G>A (n.4137G>A) c.10520G>A (p.Ser3507Asn) n.4449G>A c.10649G>A (p.Ser3550Asn) | |
2 | g.73572523G>C | CA347284453 | ALMS1 | c.10265G>C (p.Ser3422Thr) c.3351G>C c.7546G>C c.4712G>C (p.Ser1571Thr) c.7591G>C c.10646G>C (p.Ser3549Thr) c.800G>C (p.Ser267Thr) c.2002G>C c.34G>C c.1743G>C c.4137G>C (n.4137G>C) c.10520G>C (p.Ser3507Thr) n.4449G>C c.10649G>C (p.Ser3550Thr) | |
2 | g.73572523G>T | CA347284456 | ALMS1 | c.10265G>T (p.Ser3422Ile) c.3351G>T c.7546G>T c.4712G>T (p.Ser1571Ile) c.7591G>T c.10646G>T (p.Ser3549Ile) c.800G>T (p.Ser267Ile) c.2002G>T c.34G>T c.1743G>T c.4137G>T (n.4137G>T) c.10520G>T (p.Ser3507Ile) n.4449G>T c.10649G>T (p.Ser3550Ile) | |
2 | g.73572524C>A | CA347284461 | ALMS1 | c.10266C>A (p.Ser3422Arg) c.3352C>A c.7547C>A c.4713C>A (p.Ser1571Arg) c.7592C>A c.10647C>A (p.Ser3549Arg) c.801C>A (p.Ser267Arg) c.2003C>A c.35C>A c.1744C>A c.4138C>A (n.4138C>A) c.10521C>A (p.Ser3507Arg) n.4450C>A c.10650C>A (p.Ser3550Arg) | |
2 | g.73572524C= | CA1261021252 | ALMS1 | c.10266C= (p.Ser3422=) c.3352C= c.7547C= c.4713C= (p.Ser1571=) c.7592C= c.10647C= (p.Ser3549=) c.801C= (p.Ser267=) c.2003C= c.35C= c.1744C= c.4138C= (n.4138C=) c.10521C= (p.Ser3507=) n.4450C= c.10650C= (p.Ser3550=) | |
2 | g.73572524C>G | CA347284463 | ALMS1 | c.10266C>G (p.Ser3422Arg) c.3352C>G c.7547C>G c.4713C>G (p.Ser1571Arg) c.7592C>G c.10647C>G (p.Ser3549Arg) c.801C>G (p.Ser267Arg) c.2003C>G c.35C>G c.1744C>G c.4138C>G (n.4138C>G) c.10521C>G (p.Ser3507Arg) n.4450C>G c.10650C>G (p.Ser3550Arg) | |
2 | g.73572524C>T | CA50386340 | ALMS1 | c.10266C>T (p.Ser3422=) c.3352C>T c.7547C>T c.4713C>T (p.Ser1571=) c.7592C>T c.10647C>T (p.Ser3549=) c.801C>T (p.Ser267=) c.2003C>T c.35C>T c.1744C>T c.4138C>T (n.4138C>T) c.10521C>T (p.Ser3507=) n.4450C>T c.10650C>T (p.Ser3550=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572525A= | CA1261021254 | ALMS1 | c.10267A= (p.Ile3423=) c.3353A= c.7548A= c.4714A= (p.Ile1572=) c.7593A= c.10648A= (p.Ile3550=) c.802A= (p.Ile268=) c.2004A= c.36A= c.1745A= c.4139A= (n.4139A=) c.10522A= (p.Ile3508=) n.4451A= c.10651A= (p.Ile3551=) | |
2 | g.73572525A>C | CA1715039 | ALMS1 | c.10267A>C (p.Ile3423Leu) c.3353A>C c.7548A>C c.4714A>C (p.Ile1572Leu) c.7593A>C c.10648A>C (p.Ile3550Leu) c.802A>C (p.Ile268Leu) c.2004A>C c.36A>C c.1745A>C c.4139A>C (n.4139A>C) c.10522A>C (p.Ile3508Leu) n.4451A>C c.10651A>C (p.Ile3551Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572525A>G | CA347284474 | ALMS1 | c.10267A>G (p.Ile3423Val) c.3353A>G c.7548A>G c.4714A>G (p.Ile1572Val) c.7593A>G c.10648A>G (p.Ile3550Val) c.802A>G (p.Ile268Val) c.2004A>G c.36A>G c.1745A>G c.4139A>G (n.4139A>G) c.10522A>G (p.Ile3508Val) n.4451A>G c.10651A>G (p.Ile3551Val) | dbSNP gnomAD v4 |
2 | g.73572525A>T | CA347284470 | ALMS1 | c.10267A>T (p.Ile3423Phe) c.3353A>T c.7548A>T c.4714A>T (p.Ile1572Phe) c.7593A>T c.10648A>T (p.Ile3550Phe) c.802A>T (p.Ile268Phe) c.2004A>T c.36A>T c.1745A>T c.4139A>T (n.4139A>T) c.10522A>T (p.Ile3508Phe) n.4451A>T c.10651A>T (p.Ile3551Phe) | |
2 | g.73572526T>A | CA347284481 | ALMS1 | c.10268T>A (p.Ile3423Asn) c.3354T>A c.7549T>A c.4715T>A (p.Ile1572Asn) c.7594T>A c.10649T>A (p.Ile3550Asn) c.803T>A (p.Ile268Asn) c.2005T>A c.37T>A c.1746T>A c.4140T>A (n.4140T>A) c.10523T>A (p.Ile3508Asn) n.4452T>A c.10652T>A (p.Ile3551Asn) | |
2 | g.73572526T>C | CA347284490 | ALMS1 | c.10268T>C (p.Ile3423Thr) c.3354T>C c.7549T>C c.4715T>C (p.Ile1572Thr) c.7594T>C c.10649T>C (p.Ile3550Thr) c.803T>C (p.Ile268Thr) c.2005T>C c.37T>C c.1746T>C c.4140T>C (n.4140T>C) c.10523T>C (p.Ile3508Thr) n.4452T>C c.10652T>C (p.Ile3551Thr) | |
2 | g.73572526T>G | CA347284486 | ALMS1 | c.10268T>G (p.Ile3423Ser) c.3354T>G c.7549T>G c.4715T>G (p.Ile1572Ser) c.7594T>G c.10649T>G (p.Ile3550Ser) c.803T>G (p.Ile268Ser) c.2005T>G c.37T>G c.1746T>G c.4140T>G (n.4140T>G) c.10523T>G (p.Ile3508Ser) n.4452T>G c.10652T>G (p.Ile3551Ser) | |
2 | g.73572527C>A | CA427024089 | ALMS1 | c.10269C>A (p.Ile3423=) c.3355C>A c.7550C>A c.4716C>A (p.Ile1572=) c.7595C>A c.10650C>A (p.Ile3550=) c.804C>A (p.Ile268=) c.2006C>A c.38C>A c.1747C>A c.4141C>A (n.4141C>A) c.10524C>A (p.Ile3508=) n.4453C>A c.10653C>A (p.Ile3551=) | dbSNP |
2 | g.73572527C= | CA1261021255 | ALMS1 | c.10269C= (p.Ile3423=) c.3355C= c.7550C= c.4716C= (p.Ile1572=) c.7595C= c.10650C= (p.Ile3550=) c.804C= (p.Ile268=) c.2006C= c.38C= c.1747C= c.4141C= (n.4141C=) c.10524C= (p.Ile3508=) n.4453C= c.10653C= (p.Ile3551=) | |
2 | g.73572527C>G | CA347284494 | ALMS1 | c.10269C>G (p.Ile3423Met) c.3355C>G c.7550C>G c.4716C>G (p.Ile1572Met) c.7595C>G c.10650C>G (p.Ile3550Met) c.804C>G (p.Ile268Met) c.2006C>G c.38C>G c.1747C>G c.4141C>G (n.4141C>G) c.10524C>G (p.Ile3508Met) n.4453C>G c.10653C>G (p.Ile3551Met) | |
2 | g.73572527C>T | CA427024090 | ALMS1 | c.10269C>T (p.Ile3423=) c.3355C>T c.7550C>T c.4716C>T (p.Ile1572=) c.7595C>T c.10650C>T (p.Ile3550=) c.804C>T (p.Ile268=) c.2006C>T c.38C>T c.1747C>T c.4141C>T (n.4141C>T) c.10524C>T (p.Ile3508=) n.4453C>T c.10653C>T (p.Ile3551=) | dbSNP |
2 | g.73572528A= | CA1261021256 | ALMS1 | c.10270A= (p.Asn3424=) c.3356A= c.7551A= c.4717A= (p.Asn1573=) c.7596A= c.10651A= (p.Asn3551=) c.805A= (p.Asn269=) c.2007A= c.39A= c.1748A= c.4142A= (n.4142A=) c.10525A= (p.Asn3509=) n.4454A= c.10654A= (p.Asn3552=) | |
2 | g.73572528A>C | CA347284505 | ALMS1 | c.10270A>C (p.Asn3424His) c.3356A>C c.7551A>C c.4717A>C (p.Asn1573His) c.7596A>C c.10651A>C (p.Asn3551His) c.805A>C (p.Asn269His) c.2007A>C c.39A>C c.1748A>C c.4142A>C (n.4142A>C) c.10525A>C (p.Asn3509His) n.4454A>C c.10654A>C (p.Asn3552His) | |
2 | g.73572528A>G | CA1715040 | ALMS1 | c.10270A>G (p.Asn3424Asp) c.3356A>G c.7551A>G c.4717A>G (p.Asn1573Asp) c.7596A>G c.10651A>G (p.Asn3551Asp) c.805A>G (p.Asn269Asp) c.2007A>G c.39A>G c.1748A>G c.4142A>G (n.4142A>G) c.10525A>G (p.Asn3509Asp) n.4454A>G c.10654A>G (p.Asn3552Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572528A>T | CA347284503 | ALMS1 | c.10270A>T (p.Asn3424Tyr) c.3356A>T c.7551A>T c.4717A>T (p.Asn1573Tyr) c.7596A>T c.10651A>T (p.Asn3551Tyr) c.805A>T (p.Asn269Tyr) c.2007A>T c.39A>T c.1748A>T c.4142A>T (n.4142A>T) c.10525A>T (p.Asn3509Tyr) n.4454A>T c.10654A>T (p.Asn3552Tyr) | |
2 | g.73572529dup | CA1261021257 | ALMS1 | c.10271dup (p.Asn3424LysfsTer14) c.3357dup c.7552dup c.4718dup (p.Asn1573LysfsTer14) c.7597dup c.10652dup (p.Asn3551LysfsTer14) c.806dup (p.Asn269LysfsTer14) c.2008dup c.40dup c.1749dup c.4143dup (n.4143dup) c.10526dup (p.Asn3509LysfsTer14) n.4455dup c.10655dup (p.Asn3552LysfsTer14) | ClinVar dbSNP gnomAD v4 |
2 | g.73572529A= | CA1261021258 | ALMS1 | c.10271A= (p.Asn3424=) c.3357A= c.7552A= c.4718A= (p.Asn1573=) c.7597A= c.10652A= (p.Asn3551=) c.806A= (p.Asn269=) c.2008A= c.40A= c.1749A= c.4143A= (n.4143A=) c.10526A= (p.Asn3509=) n.4455A= c.10655A= (p.Asn3552=) | |
2 | g.73572529A>C | CA347284511 | ALMS1 | c.10271A>C (p.Asn3424Thr) c.3357A>C c.7552A>C c.4718A>C (p.Asn1573Thr) c.7597A>C c.10652A>C (p.Asn3551Thr) c.806A>C (p.Asn269Thr) c.2008A>C c.40A>C c.1749A>C c.4143A>C (n.4143A>C) c.10526A>C (p.Asn3509Thr) n.4455A>C c.10655A>C (p.Asn3552Thr) | |
2 | g.73572529A>G | CA50386346 | ALMS1 | c.10271A>G (p.Asn3424Ser) c.3357A>G c.7552A>G c.4718A>G (p.Asn1573Ser) c.7597A>G c.10652A>G (p.Asn3551Ser) c.806A>G (p.Asn269Ser) c.2008A>G c.40A>G c.1749A>G c.4143A>G (n.4143A>G) c.10526A>G (p.Asn3509Ser) n.4455A>G c.10655A>G (p.Asn3552Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.73572529A>T | CA347284516 | ALMS1 | c.10271A>T (p.Asn3424Ile) c.3357A>T c.7552A>T c.4718A>T (p.Asn1573Ile) c.7597A>T c.10652A>T (p.Asn3551Ile) c.806A>T (p.Asn269Ile) c.2008A>T c.40A>T c.1749A>T c.4143A>T (n.4143A>T) c.10526A>T (p.Asn3509Ile) n.4455A>T c.10655A>T (p.Asn3552Ile) | dbSNP |
2 | g.73572530T>A | CA347284519 | ALMS1 | c.10272T>A (p.Asn3424Lys) c.3358T>A c.7553T>A c.4719T>A (p.Asn1573Lys) c.7598T>A c.10653T>A (p.Asn3551Lys) c.807T>A (p.Asn269Lys) c.2009T>A c.41T>A c.1750T>A c.4144T>A (n.4144T>A) c.10527T>A (p.Asn3509Lys) n.4456T>A c.10656T>A (p.Asn3552Lys) | |
2 | g.73572530T>C | CA427024096 | ALMS1 | c.10272T>C (p.Asn3424=) c.3358T>C c.7553T>C c.4719T>C (p.Asn1573=) c.7598T>C c.10653T>C (p.Asn3551=) c.807T>C (p.Asn269=) c.2009T>C c.41T>C c.1750T>C c.4144T>C (n.4144T>C) c.10527T>C (p.Asn3509=) n.4456T>C c.10656T>C (p.Asn3552=) | |
2 | g.73572530T>G | CA347284521 | ALMS1 | c.10272T>G (p.Asn3424Lys) c.3358T>G c.7553T>G c.4719T>G (p.Asn1573Lys) c.7598T>G c.10653T>G (p.Asn3551Lys) c.807T>G (p.Asn269Lys) c.2009T>G c.41T>G c.1750T>G c.4144T>G (n.4144T>G) c.10527T>G (p.Asn3509Lys) n.4456T>G c.10656T>G (p.Asn3552Lys) |