Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.73572537T>A | CA347284570 | ALMS1 | c.10279T>A (p.Leu3427Met) c.3365T>A c.7560T>A c.4726T>A (p.Leu1576Met) c.7605T>A c.10660T>A (p.Leu3554Met) c.814T>A (p.Leu272Met) c.2016T>A c.48T>A c.1757T>A c.4151T>A (n.4151T>A) c.10534T>A (p.Leu3512Met) n.4463T>A c.10663T>A (p.Leu3555Met) | |
2 | g.73572537T>C | CA427024114 | ALMS1 | c.10279T>C (p.Leu3427=) c.3365T>C c.7560T>C c.4726T>C (p.Leu1576=) c.7605T>C c.10660T>C (p.Leu3554=) c.814T>C (p.Leu272=) c.2016T>C c.48T>C c.1757T>C c.4151T>C (n.4151T>C) c.10534T>C (p.Leu3512=) n.4463T>C c.10663T>C (p.Leu3555=) | ClinVar |
2 | g.73572537T>G | CA347284572 | ALMS1 | c.10279T>G (p.Leu3427Val) c.3365T>G c.7560T>G c.4726T>G (p.Leu1576Val) c.7605T>G c.10660T>G (p.Leu3554Val) c.814T>G (p.Leu272Val) c.2016T>G c.48T>G c.1757T>G c.4151T>G (n.4151T>G) c.10534T>G (p.Leu3512Val) n.4463T>G c.10663T>G (p.Leu3555Val) | |
2 | g.73572538T>A | CA347284577 | ALMS1 | c.10280T>A (p.Leu3427Ter) c.3366T>A c.7561T>A c.4727T>A (p.Leu1576Ter) c.7606T>A c.10661T>A (p.Leu3554Ter) c.815T>A (p.Leu272Ter) c.2017T>A c.49T>A c.1758T>A c.4152T>A (n.4152T>A) c.10535T>A (p.Leu3512Ter) n.4464T>A c.10664T>A (p.Leu3555Ter) | |
2 | g.73572538T>C | CA347284579 | ALMS1 | c.10280T>C (p.Leu3427Ser) c.3366T>C c.7561T>C c.4727T>C (p.Leu1576Ser) c.7606T>C c.10661T>C (p.Leu3554Ser) c.815T>C (p.Leu272Ser) c.2017T>C c.49T>C c.1758T>C c.4152T>C (n.4152T>C) c.10535T>C (p.Leu3512Ser) n.4464T>C c.10664T>C (p.Leu3555Ser) | |
2 | g.73572538T>G | CA347284581 | ALMS1 | c.10280T>G (p.Leu3427Trp) c.3366T>G c.7561T>G c.4727T>G (p.Leu1576Trp) c.7606T>G c.10661T>G (p.Leu3554Trp) c.815T>G (p.Leu272Trp) c.2017T>G c.49T>G c.1758T>G c.4152T>G (n.4152T>G) c.10535T>G (p.Leu3512Trp) n.4464T>G c.10664T>G (p.Leu3555Trp) | |
2 | g.73572539G>A | CA427024121 | ALMS1 | c.10281G>A (p.Leu3427=) c.3367G>A c.7562G>A c.4728G>A (p.Leu1576=) c.7607G>A c.10662G>A (p.Leu3554=) c.816G>A (p.Leu272=) c.2018G>A c.50G>A c.1759G>A c.4153G>A (n.4153G>A) c.10536G>A (p.Leu3512=) n.4465G>A c.10665G>A (p.Leu3555=) | dbSNP |
2 | g.73572539G>C | CA347284587 | ALMS1 | c.10281G>C (p.Leu3427Phe) c.3367G>C c.7562G>C c.4728G>C (p.Leu1576Phe) c.7607G>C c.10662G>C (p.Leu3554Phe) c.816G>C (p.Leu272Phe) c.2018G>C c.50G>C c.1759G>C c.4153G>C (n.4153G>C) c.10536G>C (p.Leu3512Phe) n.4465G>C c.10665G>C (p.Leu3555Phe) | |
2 | g.73572539G= | CA1261021259 | ALMS1 | c.10281G= (p.Leu3427=) c.3367G= c.7562G= c.4728G= (p.Leu1576=) c.7607G= c.10662G= (p.Leu3554=) c.816G= (p.Leu272=) c.2018G= c.50G= c.1759G= c.4153G= (n.4153G=) c.10536G= (p.Leu3512=) n.4465G= c.10665G= (p.Leu3555=) | |
2 | g.73572539G>T | CA347284583 | ALMS1 | c.10281G>T (p.Leu3427Phe) c.3367G>T c.7562G>T c.4728G>T (p.Leu1576Phe) c.7607G>T c.10662G>T (p.Leu3554Phe) c.816G>T (p.Leu272Phe) c.2018G>T c.50G>T c.1759G>T c.4153G>T (n.4153G>T) c.10536G>T (p.Leu3512Phe) n.4465G>T c.10665G>T (p.Leu3555Phe) | |
2 | g.73572541del | CA501086 | ALMS1 | c.10283del (p.Gly3428GlufsTer5) c.3369del c.7564del c.4730del (p.Gly1577GlufsTer5) c.7609del c.10664del (p.Gly3555GlufsTer5) c.818del (p.Gly273GlufsTer5) c.2020del c.52del c.1761del c.4155del (n.4155del) c.10538del (p.Gly3513GlufsTer5) n.4467del c.10667del (p.Gly3556GlufsTer5) | |
2 | g.73572540G>A | CA347284589 | ALMS1 | c.10282G>A (p.Gly3428Arg) c.3368G>A c.7563G>A c.4729G>A (p.Gly1577Arg) c.7608G>A c.10663G>A (p.Gly3555Arg) c.817G>A (p.Gly273Arg) c.2019G>A c.51G>A c.1760G>A c.4154G>A (n.4154G>A) c.10537G>A (p.Gly3513Arg) n.4466G>A c.10666G>A (p.Gly3556Arg) | |
2 | g.73572540G>C | CA347284591 | ALMS1 | c.10282G>C (p.Gly3428Arg) c.3368G>C c.7563G>C c.4729G>C (p.Gly1577Arg) c.7608G>C c.10663G>C (p.Gly3555Arg) c.817G>C (p.Gly273Arg) c.2019G>C c.51G>C c.1760G>C c.4154G>C (n.4154G>C) c.10537G>C (p.Gly3513Arg) n.4466G>C c.10666G>C (p.Gly3556Arg) | |
2 | g.73572540G>T | CA347284593 | ALMS1 | c.10282G>T (p.Gly3428Ter) c.3368G>T c.7563G>T c.4729G>T (p.Gly1577Ter) c.7608G>T c.10663G>T (p.Gly3555Ter) c.817G>T (p.Gly273Ter) c.2019G>T c.51G>T c.1760G>T c.4154G>T (n.4154G>T) c.10537G>T (p.Gly3513Ter) n.4466G>T c.10666G>T (p.Gly3556Ter) | |
2 | g.73572541G>A | CA347284596 | ALMS1 | c.10283G>A (p.Gly3428Glu) c.3369G>A c.7564G>A c.4730G>A (p.Gly1577Glu) c.7609G>A c.10664G>A (p.Gly3555Glu) c.818G>A (p.Gly273Glu) c.2020G>A c.52G>A c.1761G>A c.4155G>A (n.4155G>A) c.10538G>A (p.Gly3513Glu) n.4467G>A c.10667G>A (p.Gly3556Glu) | |
2 | g.73572541G>C | CA347284598 | ALMS1 | c.10283G>C (p.Gly3428Ala) c.3369G>C c.7564G>C c.4730G>C (p.Gly1577Ala) c.7609G>C c.10664G>C (p.Gly3555Ala) c.818G>C (p.Gly273Ala) c.2020G>C c.52G>C c.1761G>C c.4155G>C (n.4155G>C) c.10538G>C (p.Gly3513Ala) n.4467G>C c.10667G>C (p.Gly3556Ala) | |
2 | g.73572541G>T | CA347284600 | ALMS1 | c.10283G>T (p.Gly3428Val) c.3369G>T c.7564G>T c.4730G>T (p.Gly1577Val) c.7609G>T c.10664G>T (p.Gly3555Val) c.818G>T (p.Gly273Val) c.2020G>T c.52G>T c.1761G>T c.4155G>T (n.4155G>T) c.10538G>T (p.Gly3513Val) n.4467G>T c.10667G>T (p.Gly3556Val) | |
2 | g.73572542A= | CA1261021260 | ALMS1 | c.10284A= (p.Gly3428=) c.3370A= c.7565A= c.4731A= (p.Gly1577=) c.7610A= c.10665A= (p.Gly3555=) c.819A= (p.Gly273=) c.2021A= c.53A= c.1762A= c.4156A= (n.4156A=) c.10539A= (p.Gly3513=) n.4468A= c.10668A= (p.Gly3556=) | |
2 | g.73572542A>C | CA427024128 | ALMS1 | c.10284A>C (p.Gly3428=) c.3370A>C c.7565A>C c.4731A>C (p.Gly1577=) c.7610A>C c.10665A>C (p.Gly3555=) c.819A>C (p.Gly273=) c.2021A>C c.53A>C c.1762A>C c.4156A>C (n.4156A>C) c.10539A>C (p.Gly3513=) n.4468A>C c.10668A>C (p.Gly3556=) | ClinVar dbSNP |
2 | g.73572542A>G | CA427024130 | ALMS1 | c.10284A>G (p.Gly3428=) c.3370A>G c.7565A>G c.4731A>G (p.Gly1577=) c.7610A>G c.10665A>G (p.Gly3555=) c.819A>G (p.Gly273=) c.2021A>G c.53A>G c.1762A>G c.4156A>G (n.4156A>G) c.10539A>G (p.Gly3513=) n.4468A>G c.10668A>G (p.Gly3556=) | |
2 | g.73572542A>T | CA427024131 | ALMS1 | c.10284A>T (p.Gly3428=) c.3370A>T c.7565A>T c.4731A>T (p.Gly1577=) c.7610A>T c.10665A>T (p.Gly3555=) c.819A>T (p.Gly273=) c.2021A>T c.53A>T c.1762A>T c.4156A>T (n.4156A>T) c.10539A>T (p.Gly3513=) n.4468A>T c.10668A>T (p.Gly3556=) | |
2 | g.73572543_73572544del | CA2577005217 | ALMS1 | c.10285_10286del (p.Asn3429GlnfsTer8) c.3371_3372del c.7566_7567del c.4732_4733del (p.Asn1578GlnfsTer8) c.7611_7612del c.10666_10667del (p.Asn3556GlnfsTer8) c.820_821del (p.Asn274GlnfsTer8) c.2022_2023del c.54_55del c.1763_1764del c.4157_4158del (n.4157_4158del) c.10540_10541del (p.Asn3514GlnfsTer8) n.4469_4470del c.10669_10670del (p.Asn3557GlnfsTer8) | |
2 | g.73572543A>C | CA347284607 | ALMS1 | c.10285A>C (p.Asn3429His) c.3371A>C c.7566A>C c.4732A>C (p.Asn1578His) c.7611A>C c.10666A>C (p.Asn3556His) c.820A>C (p.Asn274His) c.2022A>C c.54A>C c.1763A>C c.4157A>C (n.4157A>C) c.10540A>C (p.Asn3514His) n.4469A>C c.10669A>C (p.Asn3557His) | |
2 | g.73572543A>G | CA347284604 | ALMS1 | c.10285A>G (p.Asn3429Asp) c.3371A>G c.7566A>G c.4732A>G (p.Asn1578Asp) c.7611A>G c.10666A>G (p.Asn3556Asp) c.820A>G (p.Asn274Asp) c.2022A>G c.54A>G c.1763A>G c.4157A>G (n.4157A>G) c.10540A>G (p.Asn3514Asp) n.4469A>G c.10669A>G (p.Asn3557Asp) | gnomAD v4 |
2 | g.73572543A>T | CA347284605 | ALMS1 | c.10285A>T (p.Asn3429Tyr) c.3371A>T c.7566A>T c.4732A>T (p.Asn1578Tyr) c.7611A>T c.10666A>T (p.Asn3556Tyr) c.820A>T (p.Asn274Tyr) c.2022A>T c.54A>T c.1763A>T c.4157A>T (n.4157A>T) c.10540A>T (p.Asn3514Tyr) n.4469A>T c.10669A>T (p.Asn3557Tyr) | |
2 | g.73572544A>C | CA347284610 | ALMS1 | c.10286A>C (p.Asn3429Thr) c.3372A>C c.7567A>C c.4733A>C (p.Asn1578Thr) c.7612A>C c.10667A>C (p.Asn3556Thr) c.821A>C (p.Asn274Thr) c.2023A>C c.55A>C c.1764A>C c.4158A>C (n.4158A>C) c.10541A>C (p.Asn3514Thr) n.4470A>C c.10670A>C (p.Asn3557Thr) | |
2 | g.73572544A>G | CA347284611 | ALMS1 | c.10286A>G (p.Asn3429Ser) c.3372A>G c.7567A>G c.4733A>G (p.Asn1578Ser) c.7612A>G c.10667A>G (p.Asn3556Ser) c.821A>G (p.Asn274Ser) c.2023A>G c.55A>G c.1764A>G c.4158A>G (n.4158A>G) c.10541A>G (p.Asn3514Ser) n.4470A>G c.10670A>G (p.Asn3557Ser) | |
2 | g.73572544A>T | CA347284614 | ALMS1 | c.10286A>T (p.Asn3429Ile) c.3372A>T c.7567A>T c.4733A>T (p.Asn1578Ile) c.7612A>T c.10667A>T (p.Asn3556Ile) c.821A>T (p.Asn274Ile) c.2023A>T c.55A>T c.1764A>T c.4158A>T (n.4158A>T) c.10541A>T (p.Asn3514Ile) n.4470A>T c.10670A>T (p.Asn3557Ile) | |
2 | g.73572545del | CA2573135804 | ALMS1 | c.10287del (p.Asn3429LysfsTer4) c.3373del c.7568del c.4734del (p.Asn1578LysfsTer4) c.7613del c.10668del (p.Asn3556LysfsTer4) c.822del (p.Asn274LysfsTer4) c.2024del c.56del c.1765del c.4159del (n.4159del) c.10542del (p.Asn3514LysfsTer4) n.4471del c.10671del (p.Asn3557LysfsTer4) | ClinVar dbSNP |
2 | g.73572545C>A | CA347284617 | ALMS1 | c.10287C>A (p.Asn3429Lys) c.3373C>A c.7568C>A c.4734C>A (p.Asn1578Lys) c.7613C>A c.10668C>A (p.Asn3556Lys) c.822C>A (p.Asn274Lys) c.2024C>A c.56C>A c.1765C>A c.4159C>A (n.4159C>A) c.10542C>A (p.Asn3514Lys) n.4471C>A c.10671C>A (p.Asn3557Lys) | |
2 | g.73572545C>G | CA347284620 | ALMS1 | c.10287C>G (p.Asn3429Lys) c.3373C>G c.7568C>G c.4734C>G (p.Asn1578Lys) c.7613C>G c.10668C>G (p.Asn3556Lys) c.822C>G (p.Asn274Lys) c.2024C>G c.56C>G c.1765C>G c.4159C>G (n.4159C>G) c.10542C>G (p.Asn3514Lys) n.4471C>G c.10671C>G (p.Asn3557Lys) | ClinVar gnomAD v4 |
2 | g.73572545C>T | CA427024135 | ALMS1 | c.10287C>T (p.Asn3429=) c.3373C>T c.7568C>T c.4734C>T (p.Asn1578=) c.7613C>T c.10668C>T (p.Asn3556=) c.822C>T (p.Asn274=) c.2024C>T c.56C>T c.1765C>T c.4159C>T (n.4159C>T) c.10542C>T (p.Asn3514=) n.4471C>T c.10671C>T (p.Asn3557=) | |
2 | g.73572545_73572548delinsCAAA | CA1261021261 | ALMS1 | c.10287_10290delinsCAAA (p.Asn3429=) c.3373_3376delinsCAAA c.7568_7571delinsCAAA c.4734_4737delinsCAAA (p.Asn1578=) c.7613_7616delinsCAAA c.10668_10671delinsCAAA (p.Asn3556=) c.822_825delinsCAAA (p.Asn274=) c.2024_2027delinsCAAA c.56_59delinsCAAA c.1765_1768delinsCAAA c.4159_4162delinsCAAA (n.4159_4162delinsCAAA) c.10542_10545delinsCAAA (p.Asn3514=) n.4471_4474delinsCAAA c.10671_10674delinsCAAA (p.Asn3557=) | |
2 | g.73572545_73572549delinsCAAAG | CA1261021262 | ALMS1 | c.10287_10291delinsCAAAG (p.Asn3429=) c.3373_3377delinsCAAAG c.7568_7572delinsCAAAG c.4734_4738delinsCAAAG (p.Asn1578=) c.7613_7617delinsCAAAG c.10668_10672delinsCAAAG (p.Asn3556=) c.822_826delinsCAAAG (p.Asn274=) c.2024_2028delinsCAAAG c.56_60delinsCAAAG c.1765_1769delinsCAAAG c.4159_4163delinsCAAAG (n.4159_4163delinsCAAAG) c.10542_10546delinsCAAAG (p.Asn3514=) n.4471_4475delinsCAAAG c.10671_10675delinsCAAAG (p.Asn3557=) | |
2 | g.73572546A>C | CA347284625 | ALMS1 | c.10288A>C (p.Lys3430Gln) c.3374A>C c.7569A>C c.4735A>C (p.Lys1579Gln) c.7614A>C c.10669A>C (p.Lys3557Gln) c.823A>C (p.Lys275Gln) c.2025A>C c.57A>C c.1766A>C c.4160A>C (n.4160A>C) c.10543A>C (p.Lys3515Gln) n.4472A>C c.10672A>C (p.Lys3558Gln) | |
2 | g.73572546A>G | CA347284636 | ALMS1 | c.10288A>G (p.Lys3430Glu) c.3374A>G c.7569A>G c.4735A>G (p.Lys1579Glu) c.7614A>G c.10669A>G (p.Lys3557Glu) c.823A>G (p.Lys275Glu) c.2025A>G c.57A>G c.1766A>G c.4160A>G (n.4160A>G) c.10543A>G (p.Lys3515Glu) n.4472A>G c.10672A>G (p.Lys3558Glu) | |
2 | g.73572546A>T | CA347284632 | ALMS1 | c.10288A>T (p.Lys3430Ter) c.3374A>T c.7569A>T c.4735A>T (p.Lys1579Ter) c.7614A>T c.10669A>T (p.Lys3557Ter) c.823A>T (p.Lys275Ter) c.2025A>T c.57A>T c.1766A>T c.4160A>T (n.4160A>T) c.10543A>T (p.Lys3515Ter) n.4472A>T c.10672A>T (p.Lys3558Ter) | |
2 | g.73572546_73572548del | CA1715041 | ALMS1 | c.10288_10290del (p.Lys3430del) c.3374_3376del c.7569_7571del c.4735_4737del (p.Lys1579del) c.7614_7616del c.10669_10671del (p.Lys3557del) c.823_825del (p.Lys275del) c.2025_2027del c.57_59del c.1766_1768del c.4160_4162del (n.4160_4162del) c.10543_10545del (p.Lys3515del) n.4472_4474del c.10672_10674del (p.Lys3558del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572548_73572551del | CA892825931 | ALMS1 | c.10290_10293del (p.Glu3431Ter) c.3376_3379del c.7571_7574del c.4737_4740del (p.Glu1580Ter) c.7616_7619del c.10671_10674del (p.Glu3558Ter) c.825_828del (p.Glu276Ter) c.2027_2030del c.59_62del c.1768_1771del c.4162_4165del (n.4162_4165del) c.10545_10548del (p.Glu3516Ter) n.4474_4477del c.10674_10677del (p.Glu3559Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.73572547A>C | CA347284643 | ALMS1 | c.10289A>C (p.Lys3430Thr) c.3375A>C c.7570A>C c.4736A>C (p.Lys1579Thr) c.7615A>C c.10670A>C (p.Lys3557Thr) c.824A>C (p.Lys275Thr) c.2026A>C c.58A>C c.1767A>C c.4161A>C (n.4161A>C) c.10544A>C (p.Lys3515Thr) n.4473A>C c.10673A>C (p.Lys3558Thr) | |
2 | g.73572547A>G | CA347284647 | ALMS1 | c.10289A>G (p.Lys3430Arg) c.3375A>G c.7570A>G c.4736A>G (p.Lys1579Arg) c.7615A>G c.10670A>G (p.Lys3557Arg) c.824A>G (p.Lys275Arg) c.2026A>G c.58A>G c.1767A>G c.4161A>G (n.4161A>G) c.10544A>G (p.Lys3515Arg) n.4473A>G c.10673A>G (p.Lys3558Arg) | ClinVar |
2 | g.73572547A>T | CA347284651 | ALMS1 | c.10289A>T (p.Lys3430Ile) c.3375A>T c.7570A>T c.4736A>T (p.Lys1579Ile) c.7615A>T c.10670A>T (p.Lys3557Ile) c.824A>T (p.Lys275Ile) c.2026A>T c.58A>T c.1767A>T c.4161A>T (n.4161A>T) c.10544A>T (p.Lys3515Ile) n.4473A>T c.10673A>T (p.Lys3558Ile) | |
2 | g.73572548A= | CA1261021265 | ALMS1 | c.10290A= (p.Lys3430=) c.3376A= c.7571A= c.4737A= (p.Lys1579=) c.7616A= c.10671A= (p.Lys3557=) c.825A= (p.Lys275=) c.2027A= c.59A= c.1768A= c.4162A= (n.4162A=) c.10545A= (p.Lys3515=) n.4474A= c.10674A= (p.Lys3558=) | |
2 | g.73572548A>C | CA347284655 | ALMS1 | c.10290A>C (p.Lys3430Asn) c.3376A>C c.7571A>C c.4737A>C (p.Lys1579Asn) c.7616A>C c.10671A>C (p.Lys3557Asn) c.825A>C (p.Lys275Asn) c.2027A>C c.59A>C c.1768A>C c.4162A>C (n.4162A>C) c.10545A>C (p.Lys3515Asn) n.4474A>C c.10674A>C (p.Lys3558Asn) | ClinVar dbSNP gnomAD v4 |
2 | g.73572548A>G | CA427024142 | ALMS1 | c.10290A>G (p.Lys3430=) c.3376A>G c.7571A>G c.4737A>G (p.Lys1579=) c.7616A>G c.10671A>G (p.Lys3557=) c.825A>G (p.Lys275=) c.2027A>G c.59A>G c.1768A>G c.4162A>G (n.4162A>G) c.10545A>G (p.Lys3515=) n.4474A>G c.10674A>G (p.Lys3558=) | |
2 | g.73572548A>T | CA347284659 | ALMS1 | c.10290A>T (p.Lys3430Asn) c.3376A>T c.7571A>T c.4737A>T (p.Lys1579Asn) c.7616A>T c.10671A>T (p.Lys3557Asn) c.825A>T (p.Lys275Asn) c.2027A>T c.59A>T c.1768A>T c.4162A>T (n.4162A>T) c.10545A>T (p.Lys3515Asn) n.4474A>T c.10674A>T (p.Lys3558Asn) | |
2 | g.73572549G>A | CA347284662 | ALMS1 | c.10291G>A (p.Glu3431Lys) c.3377G>A c.7572G>A c.4738G>A (p.Glu1580Lys) c.7617G>A c.10672G>A (p.Glu3558Lys) c.826G>A (p.Glu276Lys) c.2028G>A c.60G>A c.1769G>A c.4163G>A (n.4163G>A) c.10546G>A (p.Glu3516Lys) n.4475G>A c.10675G>A (p.Glu3559Lys) | gnomAD v4 |
2 | g.73572549G>C | CA347284666 | ALMS1 | c.10291G>C (p.Glu3431Gln) c.3377G>C c.7572G>C c.4738G>C (p.Glu1580Gln) c.7617G>C c.10672G>C (p.Glu3558Gln) c.826G>C (p.Glu276Gln) c.2028G>C c.60G>C c.1769G>C c.4163G>C (n.4163G>C) c.10546G>C (p.Glu3516Gln) n.4475G>C c.10675G>C (p.Glu3559Gln) | |
2 | g.73572549G>T | CA347284669 | ALMS1 | c.10291G>T (p.Glu3431Ter) c.3377G>T c.7572G>T c.4738G>T (p.Glu1580Ter) c.7617G>T c.10672G>T (p.Glu3558Ter) c.826G>T (p.Glu276Ter) c.2028G>T c.60G>T c.1769G>T c.4163G>T (n.4163G>T) c.10546G>T (p.Glu3516Ter) n.4475G>T c.10675G>T (p.Glu3559Ter) | |
2 | g.73572550A>C | CA347284675 | ALMS1 | c.10292A>C (p.Glu3431Ala) c.3378A>C c.7573A>C c.4739A>C (p.Glu1580Ala) c.7618A>C c.10673A>C (p.Glu3558Ala) c.827A>C (p.Glu276Ala) c.2029A>C c.61A>C c.1770A>C c.4164A>C (n.4164A>C) c.10547A>C (p.Glu3516Ala) n.4476A>C c.10676A>C (p.Glu3559Ala) | |
2 | g.73572550A>G | CA347284678 | ALMS1 | c.10292A>G (p.Glu3431Gly) c.3378A>G c.7573A>G c.4739A>G (p.Glu1580Gly) c.7618A>G c.10673A>G (p.Glu3558Gly) c.827A>G (p.Glu276Gly) c.2029A>G c.61A>G c.1770A>G c.4164A>G (n.4164A>G) c.10547A>G (p.Glu3516Gly) n.4476A>G c.10676A>G (p.Glu3559Gly) | |
2 | g.73572550A>T | CA347284682 | ALMS1 | c.10292A>T (p.Glu3431Val) c.3378A>T c.7573A>T c.4739A>T (p.Glu1580Val) c.7618A>T c.10673A>T (p.Glu3558Val) c.827A>T (p.Glu276Val) c.2029A>T c.61A>T c.1770A>T c.4164A>T (n.4164A>T) c.10547A>T (p.Glu3516Val) n.4476A>T c.10676A>T (p.Glu3559Val) | |
2 | g.73572551A>C | CA347284685 | ALMS1 | c.10293A>C (p.Glu3431Asp) c.3379A>C c.7574A>C c.4740A>C (p.Glu1580Asp) c.7619A>C c.10674A>C (p.Glu3558Asp) c.828A>C (p.Glu276Asp) c.2030A>C c.62A>C c.1771A>C c.4165A>C (n.4165A>C) c.10548A>C (p.Glu3516Asp) n.4477A>C c.10677A>C (p.Glu3559Asp) | |
2 | g.73572551A>G | CA427024149 | ALMS1 | c.10293A>G (p.Glu3431=) c.3379A>G c.7574A>G c.4740A>G (p.Glu1580=) c.7619A>G c.10674A>G (p.Glu3558=) c.828A>G (p.Glu276=) c.2030A>G c.62A>G c.1771A>G c.4165A>G (n.4165A>G) c.10548A>G (p.Glu3516=) n.4477A>G c.10677A>G (p.Glu3559=) | |
2 | g.73572551A>T | CA347284690 | ALMS1 | c.10293A>T (p.Glu3431Asp) c.3379A>T c.7574A>T c.4740A>T (p.Glu1580Asp) c.7619A>T c.10674A>T (p.Glu3558Asp) c.828A>T (p.Glu276Asp) c.2030A>T c.62A>T c.1771A>T c.4165A>T (n.4165A>T) c.10548A>T (p.Glu3516Asp) n.4477A>T c.10677A>T (p.Glu3559Asp) | |
2 | g.73572552G>A | CA347284695 | ALMS1 | c.10294G>A (p.Val3432Met) c.3380G>A c.7575G>A c.4741G>A (p.Val1581Met) c.7620G>A c.10675G>A (p.Val3559Met) c.829G>A (p.Val277Met) c.2031G>A c.63G>A c.1772G>A c.4166G>A (n.4166G>A) c.10549G>A (p.Val3517Met) n.4478G>A c.10678G>A (p.Val3560Met) | gnomAD v4 |
2 | g.73572552G>C | CA347284696 | ALMS1 | c.10294G>C (p.Val3432Leu) c.3380G>C c.7575G>C c.4741G>C (p.Val1581Leu) c.7620G>C c.10675G>C (p.Val3559Leu) c.829G>C (p.Val277Leu) c.2031G>C c.63G>C c.1772G>C c.4166G>C (n.4166G>C) c.10549G>C (p.Val3517Leu) n.4478G>C c.10678G>C (p.Val3560Leu) | |
2 | g.73572552G>T | CA347284698 | ALMS1 | c.10294G>T (p.Val3432Leu) c.3380G>T c.7575G>T c.4741G>T (p.Val1581Leu) c.7620G>T c.10675G>T (p.Val3559Leu) c.829G>T (p.Val277Leu) c.2031G>T c.63G>T c.1772G>T c.4166G>T (n.4166G>T) c.10549G>T (p.Val3517Leu) n.4478G>T c.10678G>T (p.Val3560Leu) | |
2 | g.73572552_73572553delinsGT | CA1261021266 | ALMS1 | c.10294_10295delinsGT (p.Val3432=) c.3380_3381delinsGT c.7575_7576delinsGT c.4741_4742delinsGT (p.Val1581=) c.7620_7621delinsGT c.10675_10676delinsGT (p.Val3559=) c.829_830delinsGT (p.Val277=) c.2031_2032delinsGT c.63_64delinsGT c.1772_1773delinsGT c.4166_4167delinsGT (n.4166_4167delinsGT) c.10549_10550delinsGT (p.Val3517=) n.4478_4479delinsGT c.10678_10679delinsGT (p.Val3560=) | |
2 | g.73572553del | CA915944043 | ALMS1 | c.10295del (p.Val3432GlyfsTer?) c.3381del c.7576del c.4742del (p.Val1581GlyfsTer?) c.7621del c.10676del (p.Val3559GlyfsTer?) c.830del (p.Val277GlyfsTer?) c.2032del c.64del c.1773del c.4167del (n.4167del) c.10550del (p.Val3517GlyfsTer?) n.4479del c.10679del (p.Val3560GlyfsTer?) | ClinVar dbSNP |
2 | g.73572553T>A | CA347284712 | ALMS1 | c.10295T>A (p.Val3432Glu) c.3381T>A c.7576T>A c.4742T>A (p.Val1581Glu) c.7621T>A c.10676T>A (p.Val3559Glu) c.830T>A (p.Val277Glu) c.2032T>A c.64T>A c.1773T>A c.4167T>A (n.4167T>A) c.10550T>A (p.Val3517Glu) n.4479T>A c.10679T>A (p.Val3560Glu) | |
2 | g.73572553T>C | CA1715042 | ALMS1 | c.10295T>C (p.Val3432Ala) c.3381T>C c.7576T>C c.4742T>C (p.Val1581Ala) c.7621T>C c.10676T>C (p.Val3559Ala) c.830T>C (p.Val277Ala) c.2032T>C c.64T>C c.1773T>C c.4167T>C (n.4167T>C) c.10550T>C (p.Val3517Ala) n.4479T>C c.10679T>C (p.Val3560Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572553T>G | CA347284715 | ALMS1 | c.10295T>G (p.Val3432Gly) c.3381T>G c.7576T>G c.4742T>G (p.Val1581Gly) c.7621T>G c.10676T>G (p.Val3559Gly) c.830T>G (p.Val277Gly) c.2032T>G c.64T>G c.1773T>G c.4167T>G (n.4167T>G) c.10550T>G (p.Val3517Gly) n.4479T>G c.10679T>G (p.Val3560Gly) | |
2 | g.73572553T= | CA1261021267 | ALMS1 | c.10295T= (p.Val3432=) c.3381T= c.7576T= c.4742T= (p.Val1581=) c.7621T= c.10676T= (p.Val3559=) c.830T= (p.Val277=) c.2032T= c.64T= c.1773T= c.4167T= (n.4167T=) c.10550T= (p.Val3517=) n.4479T= c.10679T= (p.Val3560=) | |
2 | g.73572554G>A | CA1715043 | ALMS1 | c.10296G>A (p.Val3432=) c.3382G>A c.7577G>A c.4743G>A (p.Val1581=) c.7622G>A c.10677G>A (p.Val3559=) c.831G>A (p.Val277=) c.2033G>A c.65G>A c.1774G>A c.4168G>A (n.4168G>A) c.10551G>A (p.Val3517=) n.4480G>A c.10680G>A (p.Val3560=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572554G>C | CA427024153 | ALMS1 | c.10296G>C (p.Val3432=) c.3382G>C c.7577G>C c.4743G>C (p.Val1581=) c.7622G>C c.10677G>C (p.Val3559=) c.831G>C (p.Val277=) c.2033G>C c.65G>C c.1774G>C c.4168G>C (n.4168G>C) c.10551G>C (p.Val3517=) n.4480G>C c.10680G>C (p.Val3560=) | |
2 | g.73572554G= | CA1261021269 | ALMS1 | c.10296G= (p.Val3432=) c.3382G= c.7577G= c.4743G= (p.Val1581=) c.7622G= c.10677G= (p.Val3559=) c.831G= (p.Val277=) c.2033G= c.65G= c.1774G= c.4168G= (n.4168G=) c.10551G= (p.Val3517=) n.4480G= c.10680G= (p.Val3560=) | |
2 | g.73572554G>T | CA427024154 | ALMS1 | c.10296G>T (p.Val3432=) c.3382G>T c.7577G>T c.4743G>T (p.Val1581=) c.7622G>T c.10677G>T (p.Val3559=) c.831G>T (p.Val277=) c.2033G>T c.65G>T c.1774G>T c.4168G>T (n.4168G>T) c.10551G>T (p.Val3517=) n.4480G>T c.10680G>T (p.Val3560=) | |
2 | g.73572555A>C | CA347284723 | ALMS1 | c.10297A>C (p.Met3433Leu) c.3383A>C c.7578A>C c.4744A>C (p.Met1582Leu) c.7623A>C c.10678A>C (p.Met3560Leu) c.832A>C (p.Met278Leu) c.2034A>C c.66A>C c.1775A>C c.4169A>C (n.4169A>C) c.10552A>C (p.Met3518Leu) n.4481A>C c.10681A>C (p.Met3561Leu) | |
2 | g.73572555A>G | CA347284728 | ALMS1 | c.10297A>G (p.Met3433Val) c.3383A>G c.7578A>G c.4744A>G (p.Met1582Val) c.7623A>G c.10678A>G (p.Met3560Val) c.832A>G (p.Met278Val) c.2034A>G c.66A>G c.1775A>G c.4169A>G (n.4169A>G) c.10552A>G (p.Met3518Val) n.4481A>G c.10681A>G (p.Met3561Val) | |
2 | g.73572555A>T | CA347284731 | ALMS1 | c.10297A>T (p.Met3433Leu) c.3383A>T c.7578A>T c.4744A>T (p.Met1582Leu) c.7623A>T c.10678A>T (p.Met3560Leu) c.832A>T (p.Met278Leu) c.2034A>T c.66A>T c.1775A>T c.4169A>T (n.4169A>T) c.10552A>T (p.Met3518Leu) n.4481A>T c.10681A>T (p.Met3561Leu) | |
2 | g.73572556T>A | CA347284736 | ALMS1 | c.10298T>A (p.Met3433Lys) c.3384T>A c.7579T>A c.4745T>A (p.Met1582Lys) c.7624T>A c.10679T>A (p.Met3560Lys) c.833T>A (p.Met278Lys) c.2035T>A c.67T>A c.1776T>A c.4170T>A (n.4170T>A) c.10553T>A (p.Met3518Lys) n.4482T>A c.10682T>A (p.Met3561Lys) | |
2 | g.73572556T>C | CA1715044 | ALMS1 | c.10298T>C (p.Met3433Thr) c.3384T>C c.7579T>C c.4745T>C (p.Met1582Thr) c.7624T>C c.10679T>C (p.Met3560Thr) c.833T>C (p.Met278Thr) c.2035T>C c.67T>C c.1776T>C c.4170T>C (n.4170T>C) c.10553T>C (p.Met3518Thr) n.4482T>C c.10682T>C (p.Met3561Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572556T>G | CA347284738 | ALMS1 | c.10298T>G (p.Met3433Arg) c.3384T>G c.7579T>G c.4745T>G (p.Met1582Arg) c.7624T>G c.10679T>G (p.Met3560Arg) c.833T>G (p.Met278Arg) c.2035T>G c.67T>G c.1776T>G c.4170T>G (n.4170T>G) c.10553T>G (p.Met3518Arg) n.4482T>G c.10682T>G (p.Met3561Arg) | ClinVar dbSNP |
2 | g.73572556T= | CA1261021274 | ALMS1 | c.10298T= (p.Met3433=) c.3384T= c.7579T= c.4745T= (p.Met1582=) c.7624T= c.10679T= (p.Met3560=) c.833T= (p.Met278=) c.2035T= c.67T= c.1776T= c.4170T= (n.4170T=) c.10553T= (p.Met3518=) n.4482T= c.10682T= (p.Met3561=) | |
2 | g.73572557G>A | CA347284750 | ALMS1 | c.10299G>A (p.Met3433Ile) c.3385G>A c.7580G>A c.4746G>A (p.Met1582Ile) c.7625G>A c.10680G>A (p.Met3560Ile) c.834G>A (p.Met278Ile) c.2036G>A c.68G>A c.1777G>A c.4171G>A (n.4171G>A) c.10554G>A (p.Met3518Ile) n.4483G>A c.10683G>A (p.Met3561Ile) | gnomAD v4 |
2 | g.73572557G>C | CA347284747 | ALMS1 | c.10299G>C (p.Met3433Ile) c.3385G>C c.7580G>C c.4746G>C (p.Met1582Ile) c.7625G>C c.10680G>C (p.Met3560Ile) c.834G>C (p.Met278Ile) c.2036G>C c.68G>C c.1777G>C c.4171G>C (n.4171G>C) c.10554G>C (p.Met3518Ile) n.4483G>C c.10683G>C (p.Met3561Ile) | |
2 | g.73572557G= | CA1261021278 | ALMS1 | c.10299G= (p.Met3433=) c.3385G= c.7580G= c.4746G= (p.Met1582=) c.7625G= c.10680G= (p.Met3560=) c.834G= (p.Met278=) c.2036G= c.68G= c.1777G= c.4171G= (n.4171G=) c.10554G= (p.Met3518=) n.4483G= c.10683G= (p.Met3561=) | |
2 | g.73572557G>T | CA347284744 | ALMS1 | c.10299G>T (p.Met3433Ile) c.3385G>T c.7580G>T c.4746G>T (p.Met1582Ile) c.7625G>T c.10680G>T (p.Met3560Ile) c.834G>T (p.Met278Ile) c.2036G>T c.68G>T c.1777G>T c.4171G>T (n.4171G>T) c.10554G>T (p.Met3518Ile) n.4483G>T c.10683G>T (p.Met3561Ile) | |
2 | g.73572558G>A | CA347284756 | ALMS1 | c.10300G>A (p.Asp3434Asn) c.3386G>A c.7581G>A c.4747G>A (p.Asp1583Asn) c.7626G>A c.10681G>A (p.Asp3561Asn) c.835G>A (p.Asp279Asn) c.2037G>A c.69G>A c.1778G>A c.4172G>A (n.4172G>A) c.10555G>A (p.Asp3519Asn) n.4484G>A c.10684G>A (p.Asp3562Asn) | gnomAD v4 |
2 | g.73572558G>C | CA347284760 | ALMS1 | c.10300G>C (p.Asp3434His) c.3386G>C c.7581G>C c.4747G>C (p.Asp1583His) c.7626G>C c.10681G>C (p.Asp3561His) c.835G>C (p.Asp279His) c.2037G>C c.69G>C c.1778G>C c.4172G>C (n.4172G>C) c.10555G>C (p.Asp3519His) n.4484G>C c.10684G>C (p.Asp3562His) | |
2 | g.73572558G>T | CA347284763 | ALMS1 | c.10300G>T (p.Asp3434Tyr) c.3386G>T c.7581G>T c.4747G>T (p.Asp1583Tyr) c.7626G>T c.10681G>T (p.Asp3561Tyr) c.835G>T (p.Asp279Tyr) c.2037G>T c.69G>T c.1778G>T c.4172G>T (n.4172G>T) c.10555G>T (p.Asp3519Tyr) n.4484G>T c.10684G>T (p.Asp3562Tyr) | |
2 | g.73572558_73572560dup | CA1261021282 | ALMS1 | c.10300_10302dup (p.Asp3434_Thr3435insAsp) c.3386_3388dup c.7581_7583dup c.4747_4749dup (p.Asp1583_Thr1584insAsp) c.7626_7628dup c.10681_10683dup (p.Asp3561_Thr3562insAsp) c.835_837dup (p.Asp279_Thr280insAsp) c.2037_2039dup c.69_71dup c.1778_1780dup c.4172_4174dup (n.4172_4174dup) c.10555_10557dup (p.Asp3519_Thr3520insAsp) n.4484_4486dup c.10684_10686dup (p.Asp3562_Thr3563insAsp) | dbSNP |
2 | g.73572559A>C | CA347284767 | ALMS1 | c.10301A>C (p.Asp3434Ala) c.3387A>C c.7582A>C c.4748A>C (p.Asp1583Ala) c.7627A>C c.10682A>C (p.Asp3561Ala) c.836A>C (p.Asp279Ala) c.2038A>C c.70A>C c.1779A>C c.4173A>C (n.4173A>C) c.10556A>C (p.Asp3519Ala) n.4485A>C c.10685A>C (p.Asp3562Ala) | |
2 | g.73572559A>G | CA347284770 | ALMS1 | c.10301A>G (p.Asp3434Gly) c.3387A>G c.7582A>G c.4748A>G (p.Asp1583Gly) c.7627A>G c.10682A>G (p.Asp3561Gly) c.836A>G (p.Asp279Gly) c.2038A>G c.70A>G c.1779A>G c.4173A>G (n.4173A>G) c.10556A>G (p.Asp3519Gly) n.4485A>G c.10685A>G (p.Asp3562Gly) | gnomAD v4 |
2 | g.73572559A>T | CA347284773 | ALMS1 | c.10301A>T (p.Asp3434Val) c.3387A>T c.7582A>T c.4748A>T (p.Asp1583Val) c.7627A>T c.10682A>T (p.Asp3561Val) c.836A>T (p.Asp279Val) c.2038A>T c.70A>T c.1779A>T c.4173A>T (n.4173A>T) c.10556A>T (p.Asp3519Val) n.4485A>T c.10685A>T (p.Asp3562Val) | |
2 | g.73572560T>A | CA347284777 | ALMS1 | c.10302T>A (p.Asp3434Glu) c.3388T>A c.7583T>A c.4749T>A (p.Asp1583Glu) c.7628T>A c.10683T>A (p.Asp3561Glu) c.837T>A (p.Asp279Glu) c.2039T>A c.71T>A c.1780T>A c.4174T>A (n.4174T>A) c.10557T>A (p.Asp3519Glu) n.4486T>A c.10686T>A (p.Asp3562Glu) | dbSNP |
2 | g.73572560T>C | CA427024159 | ALMS1 | c.10302T>C (p.Asp3434=) c.3388T>C c.7583T>C c.4749T>C (p.Asp1583=) c.7628T>C c.10683T>C (p.Asp3561=) c.837T>C (p.Asp279=) c.2039T>C c.71T>C c.1780T>C c.4174T>C (n.4174T>C) c.10557T>C (p.Asp3519=) n.4486T>C c.10686T>C (p.Asp3562=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572560T>G | CA347284781 | ALMS1 | c.10302T>G (p.Asp3434Glu) c.3388T>G c.7583T>G c.4749T>G (p.Asp1583Glu) c.7628T>G c.10683T>G (p.Asp3561Glu) c.837T>G (p.Asp279Glu) c.2039T>G c.71T>G c.1780T>G c.4174T>G (n.4174T>G) c.10557T>G (p.Asp3519Glu) n.4486T>G c.10686T>G (p.Asp3562Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572560T= | CA1261021291 | ALMS1 | c.10302T= (p.Asp3434=) c.3388T= c.7583T= c.4749T= (p.Asp1583=) c.7628T= c.10683T= (p.Asp3561=) c.837T= (p.Asp279=) c.2039T= c.71T= c.1780T= c.4174T= (n.4174T=) c.10557T= (p.Asp3519=) n.4486T= c.10686T= (p.Asp3562=) | |
2 | g.73572561A= | CA1261021295 | ALMS1 | c.10303A= (p.Thr3435=) c.3389A= c.7584A= c.4750A= (p.Thr1584=) c.7629A= c.10684A= (p.Thr3562=) c.838A= (p.Thr280=) c.2040A= c.72A= c.1781A= c.4175A= (n.4175A=) c.10558A= (p.Thr3520=) n.4487A= c.10687A= (p.Thr3563=) | |
2 | g.73572561A>C | CA347284785 | ALMS1 | c.10303A>C (p.Thr3435Pro) c.3389A>C c.7584A>C c.4750A>C (p.Thr1584Pro) c.7629A>C c.10684A>C (p.Thr3562Pro) c.838A>C (p.Thr280Pro) c.2040A>C c.72A>C c.1781A>C c.4175A>C (n.4175A>C) c.10558A>C (p.Thr3520Pro) n.4487A>C c.10687A>C (p.Thr3563Pro) | |
2 | g.73572561A>G | CA347284790 | ALMS1 | c.10303A>G (p.Thr3435Ala) c.3389A>G c.7584A>G c.4750A>G (p.Thr1584Ala) c.7629A>G c.10684A>G (p.Thr3562Ala) c.838A>G (p.Thr280Ala) c.2040A>G c.72A>G c.1781A>G c.4175A>G (n.4175A>G) c.10558A>G (p.Thr3520Ala) n.4487A>G c.10687A>G (p.Thr3563Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572561A>T | CA347284798 | ALMS1 | c.10303A>T (p.Thr3435Ser) c.3389A>T c.7584A>T c.4750A>T (p.Thr1584Ser) c.7629A>T c.10684A>T (p.Thr3562Ser) c.838A>T (p.Thr280Ser) c.2040A>T c.72A>T c.1781A>T c.4175A>T (n.4175A>T) c.10558A>T (p.Thr3520Ser) n.4487A>T c.10687A>T (p.Thr3563Ser) | |
2 | g.73572562C>A | CA347284802 | ALMS1 | c.10304C>A (p.Thr3435Asn) c.3390C>A c.7585C>A c.4751C>A (p.Thr1584Asn) c.7630C>A c.10685C>A (p.Thr3562Asn) c.839C>A (p.Thr280Asn) c.2041C>A c.73C>A c.1782C>A c.4176C>A (n.4176C>A) c.10559C>A (p.Thr3520Asn) n.4488C>A c.10688C>A (p.Thr3563Asn) | |
2 | g.73572562C= | CA1261021301 | ALMS1 | c.10304C= (p.Thr3435=) c.3390C= c.7585C= c.4751C= (p.Thr1584=) c.7630C= c.10685C= (p.Thr3562=) c.839C= (p.Thr280=) c.2041C= c.73C= c.1782C= c.4176C= (n.4176C=) c.10559C= (p.Thr3520=) n.4488C= c.10688C= (p.Thr3563=) | |
2 | g.73572562C>G | CA347284804 | ALMS1 | c.10304C>G (p.Thr3435Ser) c.3390C>G c.7585C>G c.4751C>G (p.Thr1584Ser) c.7630C>G c.10685C>G (p.Thr3562Ser) c.839C>G (p.Thr280Ser) c.2041C>G c.73C>G c.1782C>G c.4176C>G (n.4176C>G) c.10559C>G (p.Thr3520Ser) n.4488C>G c.10688C>G (p.Thr3563Ser) | ClinVar dbSNP |
2 | g.73572562C>T | CA347284805 | ALMS1 | c.10304C>T (p.Thr3435Ile) c.3390C>T c.7585C>T c.4751C>T (p.Thr1584Ile) c.7630C>T c.10685C>T (p.Thr3562Ile) c.839C>T (p.Thr280Ile) c.2041C>T c.73C>T c.1782C>T c.4176C>T (n.4176C>T) c.10559C>T (p.Thr3520Ile) n.4488C>T c.10688C>T (p.Thr3563Ile) | ClinVar dbSNP gnomAD v4 |
2 | g.73572563T>A | CA427024161 | ALMS1 | c.10305T>A (p.Thr3435=) c.3391T>A c.7586T>A c.4752T>A (p.Thr1584=) c.7631T>A c.10686T>A (p.Thr3562=) c.840T>A (p.Thr280=) c.2042T>A c.74T>A c.1783T>A c.4177T>A (n.4177T>A) c.10560T>A (p.Thr3520=) n.4489T>A c.10689T>A (p.Thr3563=) | |
2 | g.73572563T>C | CA427024162 | ALMS1 | c.10305T>C (p.Thr3435=) c.3391T>C c.7586T>C c.4752T>C (p.Thr1584=) c.7631T>C c.10686T>C (p.Thr3562=) c.840T>C (p.Thr280=) c.2042T>C c.74T>C c.1783T>C c.4177T>C (n.4177T>C) c.10560T>C (p.Thr3520=) n.4489T>C c.10689T>C (p.Thr3563=) | gnomAD v4 |
2 | g.73572563T>G | CA427024164 | ALMS1 | c.10305T>G (p.Thr3435=) c.3391T>G c.7586T>G c.4752T>G (p.Thr1584=) c.7631T>G c.10686T>G (p.Thr3562=) c.840T>G (p.Thr280=) c.2042T>G c.74T>G c.1783T>G c.4177T>G (n.4177T>G) c.10560T>G (p.Thr3520=) n.4489T>G c.10689T>G (p.Thr3563=) | |
2 | g.73572564A>C | CA347284815 | ALMS1 | c.10306A>C (p.Thr3436Pro) c.3392A>C c.7587A>C c.4753A>C (p.Thr1585Pro) c.7632A>C c.10687A>C (p.Thr3563Pro) c.841A>C (p.Thr281Pro) c.2043A>C c.75A>C c.1784A>C c.4178A>C (n.4178A>C) c.10561A>C (p.Thr3521Pro) n.4490A>C c.10690A>C (p.Thr3564Pro) | |
2 | g.73572564A>G | CA347284818 | ALMS1 | c.10306A>G (p.Thr3436Ala) c.3392A>G c.7587A>G c.4753A>G (p.Thr1585Ala) c.7632A>G c.10687A>G (p.Thr3563Ala) c.841A>G (p.Thr281Ala) c.2043A>G c.75A>G c.1784A>G c.4178A>G (n.4178A>G) c.10561A>G (p.Thr3521Ala) n.4490A>G c.10690A>G (p.Thr3564Ala) | |
2 | g.73572564A>T | CA347284811 | ALMS1 | c.10306A>T (p.Thr3436Ser) c.3392A>T c.7587A>T c.4753A>T (p.Thr1585Ser) c.7632A>T c.10687A>T (p.Thr3563Ser) c.841A>T (p.Thr281Ser) c.2043A>T c.75A>T c.1784A>T c.4178A>T (n.4178A>T) c.10561A>T (p.Thr3521Ser) n.4490A>T c.10690A>T (p.Thr3564Ser) | |
2 | g.73572565C>A | CA347284821 | ALMS1 | c.10307C>A (p.Thr3436Asn) c.3393C>A c.7588C>A c.4754C>A (p.Thr1585Asn) c.7633C>A c.10688C>A (p.Thr3563Asn) c.842C>A (p.Thr281Asn) c.2044C>A c.76C>A c.1785C>A c.4179C>A (n.4179C>A) c.10562C>A (p.Thr3521Asn) n.4491C>A c.10691C>A (p.Thr3564Asn) | |
2 | g.73572565C= | CA1261021304 | ALMS1 | c.10307C= (p.Thr3436=) c.3393C= c.7588C= c.4754C= (p.Thr1585=) c.7633C= c.10688C= (p.Thr3563=) c.842C= (p.Thr281=) c.2044C= c.76C= c.1785C= c.4179C= (n.4179C=) c.10562C= (p.Thr3521=) n.4491C= c.10691C= (p.Thr3564=) | |
2 | g.73572565C>G | CA347284824 | ALMS1 | c.10307C>G (p.Thr3436Ser) c.3393C>G c.7588C>G c.4754C>G (p.Thr1585Ser) c.7633C>G c.10688C>G (p.Thr3563Ser) c.842C>G (p.Thr281Ser) c.2044C>G c.76C>G c.1785C>G c.4179C>G (n.4179C>G) c.10562C>G (p.Thr3521Ser) n.4491C>G c.10691C>G (p.Thr3564Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572565C>T | CA347284826 | ALMS1 | c.10307C>T (p.Thr3436Ile) c.3393C>T c.7588C>T c.4754C>T (p.Thr1585Ile) c.7633C>T c.10688C>T (p.Thr3563Ile) c.842C>T (p.Thr281Ile) c.2044C>T c.76C>T c.1785C>T c.4179C>T (n.4179C>T) c.10562C>T (p.Thr3521Ile) n.4491C>T c.10691C>T (p.Thr3564Ile) | |
2 | g.73572566T>A | CA427024169 | ALMS1 | c.10308T>A (p.Thr3436=) c.3394T>A c.7589T>A c.4755T>A (p.Thr1585=) c.7634T>A c.10689T>A (p.Thr3563=) c.843T>A (p.Thr281=) c.2045T>A c.77T>A c.1786T>A c.4180T>A (n.4180T>A) c.10563T>A (p.Thr3521=) n.4492T>A c.10692T>A (p.Thr3564=) | |
2 | g.73572566T>C | CA427024168 | ALMS1 | c.10308T>C (p.Thr3436=) c.3394T>C c.7589T>C c.4755T>C (p.Thr1585=) c.7634T>C c.10689T>C (p.Thr3563=) c.843T>C (p.Thr281=) c.2045T>C c.77T>C c.1786T>C c.4180T>C (n.4180T>C) c.10563T>C (p.Thr3521=) n.4492T>C c.10692T>C (p.Thr3564=) | ClinVar |
2 | g.73572566T>G | CA427024167 | ALMS1 | c.10308T>G (p.Thr3436=) c.3394T>G c.7589T>G c.4755T>G (p.Thr1585=) c.7634T>G c.10689T>G (p.Thr3563=) c.843T>G (p.Thr281=) c.2045T>G c.77T>G c.1786T>G c.4180T>G (n.4180T>G) c.10563T>G (p.Thr3521=) n.4492T>G c.10692T>G (p.Thr3564=) | |
2 | g.73572567A>C | CA347284830 | ALMS1 | c.10309A>C (p.Lys3437Gln) c.3395A>C c.7590A>C c.4756A>C (p.Lys1586Gln) c.7635A>C c.10690A>C (p.Lys3564Gln) c.844A>C (p.Lys282Gln) c.2046A>C c.78A>C c.1787A>C c.4181A>C (n.4181A>C) c.10564A>C (p.Lys3522Gln) n.4493A>C c.10693A>C (p.Lys3565Gln) | gnomAD v4 |
2 | g.73572567A>G | CA347284833 | ALMS1 | c.10309A>G (p.Lys3437Glu) c.3395A>G c.7590A>G c.4756A>G (p.Lys1586Glu) c.7635A>G c.10690A>G (p.Lys3564Glu) c.844A>G (p.Lys282Glu) c.2046A>G c.78A>G c.1787A>G c.4181A>G (n.4181A>G) c.10564A>G (p.Lys3522Glu) n.4493A>G c.10693A>G (p.Lys3565Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572567A>T | CA347284836 | ALMS1 | c.10309A>T (p.Lys3437Ter) c.3395A>T c.7590A>T c.4756A>T (p.Lys1586Ter) c.7635A>T c.10690A>T (p.Lys3564Ter) c.844A>T (p.Lys282Ter) c.2046A>T c.78A>T c.1787A>T c.4181A>T (n.4181A>T) c.10564A>T (p.Lys3522Ter) n.4493A>T c.10693A>T (p.Lys3565Ter) | |
2 | g.73572568A>C | CA347284848 | ALMS1 | c.10310A>C (p.Lys3437Thr) c.3396A>C c.7591A>C c.4757A>C (p.Lys1586Thr) c.7636A>C c.10691A>C (p.Lys3564Thr) c.845A>C (p.Lys282Thr) c.2047A>C c.79A>C c.1788A>C c.4182A>C (n.4182A>C) c.10565A>C (p.Lys3522Thr) n.4494A>C c.10694A>C (p.Lys3565Thr) | |
2 | g.73572568A>G | CA347284841 | ALMS1 | c.10310A>G (p.Lys3437Arg) c.3396A>G c.7591A>G c.4757A>G (p.Lys1586Arg) c.7636A>G c.10691A>G (p.Lys3564Arg) c.845A>G (p.Lys282Arg) c.2047A>G c.79A>G c.1788A>G c.4182A>G (n.4182A>G) c.10565A>G (p.Lys3522Arg) n.4494A>G c.10694A>G (p.Lys3565Arg) | |
2 | g.73572568A>T | CA347284845 | ALMS1 | c.10310A>T (p.Lys3437Ile) c.3396A>T c.7591A>T c.4757A>T (p.Lys1586Ile) c.7636A>T c.10691A>T (p.Lys3564Ile) c.845A>T (p.Lys282Ile) c.2047A>T c.79A>T c.1788A>T c.4182A>T (n.4182A>T) c.10565A>T (p.Lys3522Ile) n.4494A>T c.10694A>T (p.Lys3565Ile) | |
2 | g.73572569A= | CA1261021307 | ALMS1 | c.10311A= (p.Lys3437=) c.3397A= c.7592A= c.4758A= (p.Lys1586=) c.7637A= c.10692A= (p.Lys3564=) c.846A= (p.Lys282=) c.2048A= c.80A= c.1789A= c.4183A= (n.4183A=) c.10566A= (p.Lys3522=) n.4495A= c.10695A= (p.Lys3565=) | |
2 | g.73572569A>C | CA347284853 | ALMS1 | c.10311A>C (p.Lys3437Asn) c.3397A>C c.7592A>C c.4758A>C (p.Lys1586Asn) c.7637A>C c.10692A>C (p.Lys3564Asn) c.846A>C (p.Lys282Asn) c.2048A>C c.80A>C c.1789A>C c.4183A>C (n.4183A>C) c.10566A>C (p.Lys3522Asn) n.4495A>C c.10695A>C (p.Lys3565Asn) | |
2 | g.73572569A>G | CA427024175 | ALMS1 | c.10311A>G (p.Lys3437=) c.3397A>G c.7592A>G c.4758A>G (p.Lys1586=) c.7637A>G c.10692A>G (p.Lys3564=) c.846A>G (p.Lys282=) c.2048A>G c.80A>G c.1789A>G c.4183A>G (n.4183A>G) c.10566A>G (p.Lys3522=) n.4495A>G c.10695A>G (p.Lys3565=) | |
2 | g.73572569A>T | CA347284856 | ALMS1 | c.10311A>T (p.Lys3437Asn) c.3397A>T c.7592A>T c.4758A>T (p.Lys1586Asn) c.7637A>T c.10692A>T (p.Lys3564Asn) c.846A>T (p.Lys282Asn) c.2048A>T c.80A>T c.1789A>T c.4183A>T (n.4183A>T) c.10566A>T (p.Lys3522Asn) n.4495A>T c.10695A>T (p.Lys3565Asn) | dbSNP |
2 | g.73572570A= | CA1261021310 | ALMS1 | c.10312A= (p.Ser3438=) c.3398A= c.7593A= c.4759A= (p.Ser1587=) c.7638A= c.10693A= (p.Ser3565=) c.847A= (p.Ser283=) c.2049A= c.81A= c.1790A= c.4184A= (n.4184A=) c.10567A= (p.Ser3523=) n.4496A= c.10696A= (p.Ser3566=) | |
2 | g.73572570A>C | CA347284863 | ALMS1 | c.10312A>C (p.Ser3438Arg) c.3398A>C c.7593A>C c.4759A>C (p.Ser1587Arg) c.7638A>C c.10693A>C (p.Ser3565Arg) c.847A>C (p.Ser283Arg) c.2049A>C c.81A>C c.1790A>C c.4184A>C (n.4184A>C) c.10567A>C (p.Ser3523Arg) n.4496A>C c.10696A>C (p.Ser3566Arg) | |
2 | g.73572570A>G | CA347284865 | ALMS1 | c.10312A>G (p.Ser3438Gly) c.3398A>G c.7593A>G c.4759A>G (p.Ser1587Gly) c.7638A>G c.10693A>G (p.Ser3565Gly) c.847A>G (p.Ser283Gly) c.2049A>G c.81A>G c.1790A>G c.4184A>G (n.4184A>G) c.10567A>G (p.Ser3523Gly) n.4496A>G c.10696A>G (p.Ser3566Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572570A>T | CA347284867 | ALMS1 | c.10312A>T (p.Ser3438Cys) c.3398A>T c.7593A>T c.4759A>T (p.Ser1587Cys) c.7638A>T c.10693A>T (p.Ser3565Cys) c.847A>T (p.Ser283Cys) c.2049A>T c.81A>T c.1790A>T c.4184A>T (n.4184A>T) c.10567A>T (p.Ser3523Cys) n.4496A>T c.10696A>T (p.Ser3566Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572571G>A | CA347284869 | ALMS1 | c.10313G>A (p.Ser3438Asn) c.3399G>A c.7594G>A c.4760G>A (p.Ser1587Asn) c.7639G>A c.10694G>A (p.Ser3565Asn) c.848G>A (p.Ser283Asn) c.2050G>A c.82G>A c.1791G>A c.4185G>A (n.4185G>A) c.10568G>A (p.Ser3523Asn) n.4497G>A c.10697G>A (p.Ser3566Asn) | |
2 | g.73572571G>C | CA347284872 | ALMS1 | c.10313G>C (p.Ser3438Thr) c.3399G>C c.7594G>C c.4760G>C (p.Ser1587Thr) c.7639G>C c.10694G>C (p.Ser3565Thr) c.848G>C (p.Ser283Thr) c.2050G>C c.82G>C c.1791G>C c.4185G>C (n.4185G>C) c.10568G>C (p.Ser3523Thr) n.4497G>C c.10697G>C (p.Ser3566Thr) | |
2 | g.73572571G>T | CA347284870 | ALMS1 | c.10313G>T (p.Ser3438Ile) c.3399G>T c.7594G>T c.4760G>T (p.Ser1587Ile) c.7639G>T c.10694G>T (p.Ser3565Ile) c.848G>T (p.Ser283Ile) c.2050G>T c.82G>T c.1791G>T c.4185G>T (n.4185G>T) c.10568G>T (p.Ser3523Ile) n.4497G>T c.10697G>T (p.Ser3566Ile) | gnomAD v4 |
2 | g.73572572T>A | CA347284874 | ALMS1 | c.10314T>A (p.Ser3438Arg) c.3400T>A c.7595T>A c.4761T>A (p.Ser1587Arg) c.7640T>A c.10695T>A (p.Ser3565Arg) c.849T>A (p.Ser283Arg) c.2051T>A c.83T>A c.1792T>A c.4186T>A (n.4186T>A) c.10569T>A (p.Ser3523Arg) n.4498T>A c.10698T>A (p.Ser3566Arg) | |
2 | g.73572572T>C | CA427024178 | ALMS1 | c.10314T>C (p.Ser3438=) c.3400T>C c.7595T>C c.4761T>C (p.Ser1587=) c.7640T>C c.10695T>C (p.Ser3565=) c.849T>C (p.Ser283=) c.2051T>C c.83T>C c.1792T>C c.4186T>C (n.4186T>C) c.10569T>C (p.Ser3523=) n.4498T>C c.10698T>C (p.Ser3566=) | |
2 | g.73572572T>G | CA347284876 | ALMS1 | c.10314T>G (p.Ser3438Arg) c.3400T>G c.7595T>G c.4761T>G (p.Ser1587Arg) c.7640T>G c.10695T>G (p.Ser3565Arg) c.849T>G (p.Ser283Arg) c.2051T>G c.83T>G c.1792T>G c.4186T>G (n.4186T>G) c.10569T>G (p.Ser3523Arg) n.4498T>G c.10698T>G (p.Ser3566Arg) | |
2 | g.73572573C>A | CA347284880 | ALMS1 | c.10315C>A (p.Gln3439Lys) c.3401C>A c.7596C>A c.4762C>A (p.Gln1588Lys) c.7641C>A c.10696C>A (p.Gln3566Lys) c.850C>A (p.Gln284Lys) c.2052C>A c.84C>A c.1793C>A c.4187C>A (n.4187C>A) c.10570C>A (p.Gln3524Lys) n.4499C>A c.10699C>A (p.Gln3567Lys) | gnomAD v4 |
2 | g.73572573C= | CA1261021316 | ALMS1 | c.10315C= (p.Gln3439=) c.3401C= c.7596C= c.4762C= (p.Gln1588=) c.7641C= c.10696C= (p.Gln3566=) c.850C= (p.Gln284=) c.2052C= c.84C= c.1793C= c.4187C= (n.4187C=) c.10570C= (p.Gln3524=) n.4499C= c.10699C= (p.Gln3567=) | |
2 | g.73572573C>G | CA50386373 | ALMS1 | c.10315C>G (p.Gln3439Glu) c.3401C>G c.7596C>G c.4762C>G (p.Gln1588Glu) c.7641C>G c.10696C>G (p.Gln3566Glu) c.850C>G (p.Gln284Glu) c.2052C>G c.84C>G c.1793C>G c.4187C>G (n.4187C>G) c.10570C>G (p.Gln3524Glu) n.4499C>G c.10699C>G (p.Gln3567Glu) | dbSNP gnomAD v4 |
2 | g.73572573C>T | CA347284887 | ALMS1 | c.10315C>T (p.Gln3439Ter) c.3401C>T c.7596C>T c.4762C>T (p.Gln1588Ter) c.7641C>T c.10696C>T (p.Gln3566Ter) c.850C>T (p.Gln284Ter) c.2052C>T c.84C>T c.1793C>T c.4187C>T (n.4187C>T) c.10570C>T (p.Gln3524Ter) n.4499C>T c.10699C>T (p.Gln3567Ter) | dbSNP gnomAD v2 |
2 | g.73572574A>C | CA347284892 | ALMS1 | c.10316A>C (p.Gln3439Pro) c.3402A>C c.7597A>C c.4763A>C (p.Gln1588Pro) c.7642A>C c.10697A>C (p.Gln3566Pro) c.851A>C (p.Gln284Pro) c.2053A>C c.85A>C c.1794A>C c.4188A>C (n.4188A>C) c.10571A>C (p.Gln3524Pro) n.4500A>C c.10700A>C (p.Gln3567Pro) | |
2 | g.73572574A>G | CA347284895 | ALMS1 | c.10316A>G (p.Gln3439Arg) c.3402A>G c.7597A>G c.4763A>G (p.Gln1588Arg) c.7642A>G c.10697A>G (p.Gln3566Arg) c.851A>G (p.Gln284Arg) c.2053A>G c.85A>G c.1794A>G c.4188A>G (n.4188A>G) c.10571A>G (p.Gln3524Arg) n.4500A>G c.10700A>G (p.Gln3567Arg) | |
2 | g.73572574A>T | CA347284899 | ALMS1 | c.10316A>T (p.Gln3439Leu) c.3402A>T c.7597A>T c.4763A>T (p.Gln1588Leu) c.7642A>T c.10697A>T (p.Gln3566Leu) c.851A>T (p.Gln284Leu) c.2053A>T c.85A>T c.1794A>T c.4188A>T (n.4188A>T) c.10571A>T (p.Gln3524Leu) n.4500A>T c.10700A>T (p.Gln3567Leu) | |
2 | g.73572575_73572579del | CA2697548291 | ALMS1 | c.10317_10321del (p.Val3440ArgfsTer6) c.3403_3407del c.7598_7602del c.4764_4768del (p.Val1589ArgfsTer6) c.7643_7647del c.10698_10702del (p.Val3567ArgfsTer6) c.852_856del (p.Val285ArgfsTer6) c.2054_2058del c.86_90del c.1795_1799del c.4189_4193del (n.4189_4193del) c.10572_10576del (p.Val3525ArgfsTer6) n.4501_4505del c.10701_10705del (p.Val3568ArgfsTer6) | ClinVar |
2 | g.73572575A>C | CA347284906 | ALMS1 | c.10317A>C (p.Gln3439His) c.3403A>C c.7598A>C c.4764A>C (p.Gln1588His) c.7643A>C c.10698A>C (p.Gln3566His) c.852A>C (p.Gln284His) c.2054A>C c.86A>C c.1795A>C c.4189A>C (n.4189A>C) c.10572A>C (p.Gln3524His) n.4501A>C c.10701A>C (p.Gln3567His) | |
2 | g.73572575A>G | CA427024181 | ALMS1 | c.10317A>G (p.Gln3439=) c.3403A>G c.7598A>G c.4764A>G (p.Gln1588=) c.7643A>G c.10698A>G (p.Gln3566=) c.852A>G (p.Gln284=) c.2054A>G c.86A>G c.1795A>G c.4189A>G (n.4189A>G) c.10572A>G (p.Gln3524=) n.4501A>G c.10701A>G (p.Gln3567=) | |
2 | g.73572575A>T | CA347284909 | ALMS1 | c.10317A>T (p.Gln3439His) c.3403A>T c.7598A>T c.4764A>T (p.Gln1588His) c.7643A>T c.10698A>T (p.Gln3566His) c.852A>T (p.Gln284His) c.2054A>T c.86A>T c.1795A>T c.4189A>T (n.4189A>T) c.10572A>T (p.Gln3524His) n.4501A>T c.10701A>T (p.Gln3567His) | |
2 | g.73572576G>A | CA347284914 | ALMS1 | c.10318G>A (p.Val3440Ile) c.3404G>A c.7599G>A c.4765G>A (p.Val1589Ile) c.7644G>A c.10699G>A (p.Val3567Ile) c.853G>A (p.Val285Ile) c.2055G>A c.87G>A c.1796G>A c.4190G>A (n.4190G>A) c.10573G>A (p.Val3525Ile) n.4502G>A c.10702G>A (p.Val3568Ile) | gnomAD v2 gnomAD v4 |
2 | g.73572576G>C | CA347284922 | ALMS1 | c.10318G>C (p.Val3440Leu) c.3404G>C c.7599G>C c.4765G>C (p.Val1589Leu) c.7644G>C c.10699G>C (p.Val3567Leu) c.853G>C (p.Val285Leu) c.2055G>C c.87G>C c.1796G>C c.4190G>C (n.4190G>C) c.10573G>C (p.Val3525Leu) n.4502G>C c.10702G>C (p.Val3568Leu) | |
2 | g.73572576G>T | CA347284918 | ALMS1 | c.10318G>T (p.Val3440Phe) c.3404G>T c.7599G>T c.4765G>T (p.Val1589Phe) c.7644G>T c.10699G>T (p.Val3567Phe) c.853G>T (p.Val285Phe) c.2055G>T c.87G>T c.1796G>T c.4190G>T (n.4190G>T) c.10573G>T (p.Val3525Phe) n.4502G>T c.10702G>T (p.Val3568Phe) | |
2 | g.73572577T>A | CA347284926 | ALMS1 | c.10319T>A (p.Val3440Asp) c.3405T>A c.7600T>A c.4766T>A (p.Val1589Asp) c.7645T>A c.10700T>A (p.Val3567Asp) c.854T>A (p.Val285Asp) c.2056T>A c.88T>A c.1797T>A c.4191T>A (n.4191T>A) c.10574T>A (p.Val3525Asp) n.4503T>A c.10703T>A (p.Val3568Asp) | |
2 | g.73572577T>C | CA347284933 | ALMS1 | c.10319T>C (p.Val3440Ala) c.3405T>C c.7600T>C c.4766T>C (p.Val1589Ala) c.7645T>C c.10700T>C (p.Val3567Ala) c.854T>C (p.Val285Ala) c.2056T>C c.88T>C c.1797T>C c.4191T>C (n.4191T>C) c.10574T>C (p.Val3525Ala) n.4503T>C c.10703T>C (p.Val3568Ala) | dbSNP gnomAD v4 |
2 | g.73572577T>G | CA347284930 | ALMS1 | c.10319T>G (p.Val3440Gly) c.3405T>G c.7600T>G c.4766T>G (p.Val1589Gly) c.7645T>G c.10700T>G (p.Val3567Gly) c.854T>G (p.Val285Gly) c.2056T>G c.88T>G c.1797T>G c.4191T>G (n.4191T>G) c.10574T>G (p.Val3525Gly) n.4503T>G c.10703T>G (p.Val3568Gly) | |
2 | g.73572578T>A | CA427024187 | ALMS1 | c.10320T>A (p.Val3440=) c.3406T>A c.7601T>A c.4767T>A (p.Val1589=) c.7646T>A c.10701T>A (p.Val3567=) c.855T>A (p.Val285=) c.2057T>A c.89T>A c.1798T>A c.4192T>A (n.4192T>A) c.10575T>A (p.Val3525=) n.4504T>A c.10704T>A (p.Val3568=) | |
2 | g.73572578T>C | CA427024189 | ALMS1 | c.10320T>C (p.Val3440=) c.3406T>C c.7601T>C c.4767T>C (p.Val1589=) c.7646T>C c.10701T>C (p.Val3567=) c.855T>C (p.Val285=) c.2057T>C c.89T>C c.1798T>C c.4192T>C (n.4192T>C) c.10575T>C (p.Val3525=) n.4504T>C c.10704T>C (p.Val3568=) | ClinVar dbSNP gnomAD v4 |
2 | g.73572578T>G | CA427024190 | ALMS1 | c.10320T>G (p.Val3440=) c.3406T>G c.7601T>G c.4767T>G (p.Val1589=) c.7646T>G c.10701T>G (p.Val3567=) c.855T>G (p.Val285=) c.2057T>G c.89T>G c.1798T>G c.4192T>G (n.4192T>G) c.10575T>G (p.Val3525=) n.4504T>G c.10704T>G (p.Val3568=) | |
2 | g.73572579A>C | CA427024191 | ALMS1 | c.10321A>C (p.Arg3441=) c.3407A>C c.7602A>C c.4768A>C (p.Arg1590=) c.7647A>C c.10702A>C (p.Arg3568=) c.856A>C (p.Arg286=) c.2058A>C c.90A>C c.1799A>C c.4193A>C (n.4193A>C) c.10576A>C (p.Arg3526=) n.4505A>C c.10705A>C (p.Arg3569=) | |
2 | g.73572579A>G | CA347284937 | ALMS1 | c.10321A>G (p.Arg3441Gly) c.3407A>G c.7602A>G c.4768A>G (p.Arg1590Gly) c.7647A>G c.10702A>G (p.Arg3568Gly) c.856A>G (p.Arg286Gly) c.2058A>G c.90A>G c.1799A>G c.4193A>G (n.4193A>G) c.10576A>G (p.Arg3526Gly) n.4505A>G c.10705A>G (p.Arg3569Gly) | |
2 | g.73572579A>T | CA347284940 | ALMS1 | c.10321A>T (p.Arg3441Ter) c.3407A>T c.7602A>T c.4768A>T (p.Arg1590Ter) c.7647A>T c.10702A>T (p.Arg3568Ter) c.856A>T (p.Arg286Ter) c.2058A>T c.90A>T c.1799A>T c.4193A>T (n.4193A>T) c.10576A>T (p.Arg3526Ter) n.4505A>T c.10705A>T (p.Arg3569Ter) | |
2 | g.73572580G>A | CA347284943 | ALMS1 | c.10322G>A (p.Arg3441Lys) c.3408G>A c.7603G>A c.4769G>A (p.Arg1590Lys) c.7648G>A c.10703G>A (p.Arg3568Lys) c.857G>A (p.Arg286Lys) c.2059G>A c.91G>A c.1800G>A c.4194G>A (n.4194G>A) c.10577G>A (p.Arg3526Lys) n.4506G>A c.10706G>A (p.Arg3569Lys) | |
2 | g.73572580G>C | CA347284948 | ALMS1 | c.10322G>C (p.Arg3441Thr) c.3408G>C c.7603G>C c.4769G>C (p.Arg1590Thr) c.7648G>C c.10703G>C (p.Arg3568Thr) c.857G>C (p.Arg286Thr) c.2059G>C c.91G>C c.1800G>C c.4194G>C (n.4194G>C) c.10577G>C (p.Arg3526Thr) n.4506G>C c.10706G>C (p.Arg3569Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572580G= | CA1261021322 | ALMS1 | c.10322G= (p.Arg3441=) c.3408G= c.7603G= c.4769G= (p.Arg1590=) c.7648G= c.10703G= (p.Arg3568=) c.857G= (p.Arg286=) c.2059G= c.91G= c.1800G= c.4194G= (n.4194G=) c.10577G= (p.Arg3526=) n.4506G= c.10706G= (p.Arg3569=) | |
2 | g.73572580G>T | CA347284953 | ALMS1 | c.10322G>T (p.Arg3441Ile) c.3408G>T c.7603G>T c.4769G>T (p.Arg1590Ile) c.7648G>T c.10703G>T (p.Arg3568Ile) c.857G>T (p.Arg286Ile) c.2059G>T c.91G>T c.1800G>T c.4194G>T (n.4194G>T) c.10577G>T (p.Arg3526Ile) n.4506G>T c.10706G>T (p.Arg3569Ile) | |
2 | g.73572581A= | CA1261021324 | ALMS1 | c.10323A= (p.Arg3441=) c.3409A= c.7604A= c.4770A= (p.Arg1590=) c.7649A= c.10704A= (p.Arg3568=) c.858A= (p.Arg286=) c.2060A= c.92A= c.1801A= c.4195A= (n.4195A=) c.10578A= (p.Arg3526=) n.4507A= c.10707A= (p.Arg3569=) | |
2 | g.73572581A>C | CA1715045 | ALMS1 | c.10323A>C (p.Arg3441Ser) c.3409A>C c.7604A>C c.4770A>C (p.Arg1590Ser) c.7649A>C c.10704A>C (p.Arg3568Ser) c.858A>C (p.Arg286Ser) c.2060A>C c.92A>C c.1801A>C c.4195A>C (n.4195A>C) c.10578A>C (p.Arg3526Ser) n.4507A>C c.10707A>C (p.Arg3569Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572581A>G | CA427024198 | ALMS1 | c.10323A>G (p.Arg3441=) c.3409A>G c.7604A>G c.4770A>G (p.Arg1590=) c.7649A>G c.10704A>G (p.Arg3568=) c.858A>G (p.Arg286=) c.2060A>G c.92A>G c.1801A>G c.4195A>G (n.4195A>G) c.10578A>G (p.Arg3526=) n.4507A>G c.10707A>G (p.Arg3569=) | |
2 | g.73572581A>T | CA347284961 | ALMS1 | c.10323A>T (p.Arg3441Ser) c.3409A>T c.7604A>T c.4770A>T (p.Arg1590Ser) c.7649A>T c.10704A>T (p.Arg3568Ser) c.858A>T (p.Arg286Ser) c.2060A>T c.92A>T c.1801A>T c.4195A>T (n.4195A>T) c.10578A>T (p.Arg3526Ser) n.4507A>T c.10707A>T (p.Arg3569Ser) | |
2 | g.73572582G>A | CA347284968 | ALMS1 | c.10324G>A (p.Asp3442Asn) c.3410G>A c.7605G>A c.4771G>A (p.Asp1591Asn) c.7650G>A c.10705G>A (p.Asp3569Asn) c.859G>A (p.Asp287Asn) c.2061G>A c.93G>A c.1802G>A c.4196G>A (n.4196G>A) c.10579G>A (p.Asp3527Asn) n.4508G>A c.10708G>A (p.Asp3570Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572582G>C | CA347284971 | ALMS1 | c.10324G>C (p.Asp3442His) c.3410G>C c.7605G>C c.4771G>C (p.Asp1591His) c.7650G>C c.10705G>C (p.Asp3569His) c.859G>C (p.Asp287His) c.2061G>C c.93G>C c.1802G>C c.4196G>C (n.4196G>C) c.10579G>C (p.Asp3527His) n.4508G>C c.10708G>C (p.Asp3570His) | |
2 | g.73572582G= | CA1261021328 | ALMS1 | c.10324G= (p.Asp3442=) c.3410G= c.7605G= c.4771G= (p.Asp1591=) c.7650G= c.10705G= (p.Asp3569=) c.859G= (p.Asp287=) c.2061G= c.93G= c.1802G= c.4196G= (n.4196G=) c.10579G= (p.Asp3527=) n.4508G= c.10708G= (p.Asp3570=) | |
2 | g.73572582G>T | CA347284976 | ALMS1 | c.10324G>T (p.Asp3442Tyr) c.3410G>T c.7605G>T c.4771G>T (p.Asp1591Tyr) c.7650G>T c.10705G>T (p.Asp3569Tyr) c.859G>T (p.Asp287Tyr) c.2061G>T c.93G>T c.1802G>T c.4196G>T (n.4196G>T) c.10579G>T (p.Asp3527Tyr) n.4508G>T c.10708G>T (p.Asp3570Tyr) | |
2 | g.73572583A>C | CA347284980 | ALMS1 | c.10325A>C (p.Asp3442Ala) c.3411A>C c.7606A>C c.4772A>C (p.Asp1591Ala) c.7651A>C c.10706A>C (p.Asp3569Ala) c.860A>C (p.Asp287Ala) c.2062A>C c.94A>C c.1803A>C c.4197A>C (n.4197A>C) c.10580A>C (p.Asp3527Ala) n.4509A>C c.10709A>C (p.Asp3570Ala) | |
2 | g.73572583A>G | CA347284985 | ALMS1 | c.10325A>G (p.Asp3442Gly) c.3411A>G c.7606A>G c.4772A>G (p.Asp1591Gly) c.7651A>G c.10706A>G (p.Asp3569Gly) c.860A>G (p.Asp287Gly) c.2062A>G c.94A>G c.1803A>G c.4197A>G (n.4197A>G) c.10580A>G (p.Asp3527Gly) n.4509A>G c.10709A>G (p.Asp3570Gly) | gnomAD v4 |
2 | g.73572583A>T | CA347284987 | ALMS1 | c.10325A>T (p.Asp3442Val) c.3411A>T c.7606A>T c.4772A>T (p.Asp1591Val) c.7651A>T c.10706A>T (p.Asp3569Val) c.860A>T (p.Asp287Val) c.2062A>T c.94A>T c.1803A>T c.4197A>T (n.4197A>T) c.10580A>T (p.Asp3527Val) n.4509A>T c.10709A>T (p.Asp3570Val) | |
2 | g.73572584T>A | CA347284999 | ALMS1 | c.10326T>A (p.Asp3442Glu) c.3412T>A c.7607T>A c.4773T>A (p.Asp1591Glu) c.7652T>A c.10707T>A (p.Asp3569Glu) c.861T>A (p.Asp287Glu) c.2063T>A c.95T>A c.1804T>A c.4198T>A (n.4198T>A) c.10581T>A (p.Asp3527Glu) n.4510T>A c.10710T>A (p.Asp3570Glu) | |
2 | g.73572584T>C | CA427024204 | ALMS1 | c.10326T>C (p.Asp3442=) c.3412T>C c.7607T>C c.4773T>C (p.Asp1591=) c.7652T>C c.10707T>C (p.Asp3569=) c.861T>C (p.Asp287=) c.2063T>C c.95T>C c.1804T>C c.4198T>C (n.4198T>C) c.10581T>C (p.Asp3527=) n.4510T>C c.10710T>C (p.Asp3570=) | |
2 | g.73572584T>G | CA347284994 | ALMS1 | c.10326T>G (p.Asp3442Glu) c.3412T>G c.7607T>G c.4773T>G (p.Asp1591Glu) c.7652T>G c.10707T>G (p.Asp3569Glu) c.861T>G (p.Asp287Glu) c.2063T>G c.95T>G c.1804T>G c.4198T>G (n.4198T>G) c.10581T>G (p.Asp3527Glu) n.4510T>G c.10710T>G (p.Asp3570Glu) | |
2 | g.73572585T>A | CA347285004 | ALMS1 | c.10327T>A (p.Tyr3443Asn) c.3413T>A c.7608T>A c.4774T>A (p.Tyr1592Asn) c.7653T>A c.10708T>A (p.Tyr3570Asn) c.862T>A (p.Tyr288Asn) c.2064T>A c.96T>A c.1805T>A c.4199T>A (n.4199T>A) c.10582T>A (p.Tyr3528Asn) n.4511T>A c.10711T>A (p.Tyr3571Asn) | |
2 | g.73572585T>C | CA347285006 | ALMS1 | c.10327T>C (p.Tyr3443His) c.3413T>C c.7608T>C c.4774T>C (p.Tyr1592His) c.7653T>C c.10708T>C (p.Tyr3570His) c.862T>C (p.Tyr288His) c.2064T>C c.96T>C c.1805T>C c.4199T>C (n.4199T>C) c.10582T>C (p.Tyr3528His) n.4511T>C c.10711T>C (p.Tyr3571His) | |
2 | g.73572585T>G | CA347285010 | ALMS1 | c.10327T>G (p.Tyr3443Asp) c.3413T>G c.7608T>G c.4774T>G (p.Tyr1592Asp) c.7653T>G c.10708T>G (p.Tyr3570Asp) c.862T>G (p.Tyr288Asp) c.2064T>G c.96T>G c.1805T>G c.4199T>G (n.4199T>G) c.10582T>G (p.Tyr3528Asp) n.4511T>G c.10711T>G (p.Tyr3571Asp) | |
2 | g.73572586A>C | CA347285016 | ALMS1 | c.10328A>C (p.Tyr3443Ser) c.3414A>C c.7609A>C c.4775A>C (p.Tyr1592Ser) c.7654A>C c.10709A>C (p.Tyr3570Ser) c.863A>C (p.Tyr288Ser) c.2065A>C c.97A>C c.1806A>C c.4200A>C (n.4200A>C) c.10583A>C (p.Tyr3528Ser) n.4512A>C c.10712A>C (p.Tyr3571Ser) | |
2 | g.73572586A>G | CA347285019 | ALMS1 | c.10328A>G (p.Tyr3443Cys) c.3414A>G c.7609A>G c.4775A>G (p.Tyr1592Cys) c.7654A>G c.10709A>G (p.Tyr3570Cys) c.863A>G (p.Tyr288Cys) c.2065A>G c.97A>G c.1806A>G c.4200A>G (n.4200A>G) c.10583A>G (p.Tyr3528Cys) n.4512A>G c.10712A>G (p.Tyr3571Cys) | ClinVar dbSNP gnomAD v4 |
2 | g.73572586A>T | CA347285021 | ALMS1 | c.10328A>T (p.Tyr3443Phe) c.3414A>T c.7609A>T c.4775A>T (p.Tyr1592Phe) c.7654A>T c.10709A>T (p.Tyr3570Phe) c.863A>T (p.Tyr288Phe) c.2065A>T c.97A>T c.1806A>T c.4200A>T (n.4200A>T) c.10583A>T (p.Tyr3528Phe) n.4512A>T c.10712A>T (p.Tyr3571Phe) | |
2 | g.73572587T>A | CA347285025 | ALMS1 | c.10329T>A (p.Tyr3443Ter) c.3415T>A c.7610T>A c.4776T>A (p.Tyr1592Ter) c.7655T>A c.10710T>A (p.Tyr3570Ter) c.864T>A (p.Tyr288Ter) c.2066T>A c.98T>A c.1807T>A c.4201T>A (n.4201T>A) c.10584T>A (p.Tyr3528Ter) n.4513T>A c.10713T>A (p.Tyr3571Ter) | |
2 | g.73572587T>C | CA427024212 | ALMS1 | c.10329T>C (p.Tyr3443=) c.3415T>C c.7610T>C c.4776T>C (p.Tyr1592=) c.7655T>C c.10710T>C (p.Tyr3570=) c.864T>C (p.Tyr288=) c.2066T>C c.98T>C c.1807T>C c.4201T>C (n.4201T>C) c.10584T>C (p.Tyr3528=) n.4513T>C c.10713T>C (p.Tyr3571=) | |
2 | g.73572587T>G | CA347285026 | ALMS1 | c.10329T>G (p.Tyr3443Ter) c.3415T>G c.7610T>G c.4776T>G (p.Tyr1592Ter) c.7655T>G c.10710T>G (p.Tyr3570Ter) c.864T>G (p.Tyr288Ter) c.2066T>G c.98T>G c.1807T>G c.4201T>G (n.4201T>G) c.10584T>G (p.Tyr3528Ter) n.4513T>G c.10713T>G (p.Tyr3571Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572587T= | CA1261021330 | ALMS1 | c.10329T= (p.Tyr3443=) c.3415T= c.7610T= c.4776T= (p.Tyr1592=) c.7655T= c.10710T= (p.Tyr3570=) c.864T= (p.Tyr288=) c.2066T= c.98T= c.1807T= c.4201T= (n.4201T=) c.10584T= (p.Tyr3528=) n.4513T= c.10713T= (p.Tyr3571=) | |
2 | g.73572588C>A | CA347285029 | ALMS1 | c.10330C>A (p.Pro3444Thr) c.3416C>A c.7611C>A c.4777C>A (p.Pro1593Thr) c.7656C>A c.10711C>A (p.Pro3571Thr) c.865C>A (p.Pro289Thr) c.2067C>A c.99C>A c.1808C>A c.4202C>A (n.4202C>A) c.10585C>A (p.Pro3529Thr) n.4514C>A c.10714C>A (p.Pro3572Thr) | |
2 | g.73572588C>G | CA347285031 | ALMS1 | c.10330C>G (p.Pro3444Ala) c.3416C>G c.7611C>G c.4777C>G (p.Pro1593Ala) c.7656C>G c.10711C>G (p.Pro3571Ala) c.865C>G (p.Pro289Ala) c.2067C>G c.99C>G c.1808C>G c.4202C>G (n.4202C>G) c.10585C>G (p.Pro3529Ala) n.4514C>G c.10714C>G (p.Pro3572Ala) | |
2 | g.73572588C>T | CA347285033 | ALMS1 | c.10330C>T (p.Pro3444Ser) c.3416C>T c.7611C>T c.4777C>T (p.Pro1593Ser) c.7656C>T c.10711C>T (p.Pro3571Ser) c.865C>T (p.Pro289Ser) c.2067C>T c.99C>T c.1808C>T c.4202C>T (n.4202C>T) c.10585C>T (p.Pro3529Ser) n.4514C>T c.10714C>T (p.Pro3572Ser) | |
2 | g.73572589C>A | CA347285039 | ALMS1 | c.10331C>A (p.Pro3444Gln) c.3417C>A c.7612C>A c.4778C>A (p.Pro1593Gln) c.7657C>A c.10712C>A (p.Pro3571Gln) c.866C>A (p.Pro289Gln) c.2068C>A c.100C>A c.1809C>A c.4203C>A (n.4203C>A) c.10586C>A (p.Pro3529Gln) n.4515C>A c.10715C>A (p.Pro3572Gln) | |
2 | g.73572589C= | CA1261021336 | ALMS1 | c.10331C= (p.Pro3444=) c.3417C= c.7612C= c.4778C= (p.Pro1593=) c.7657C= c.10712C= (p.Pro3571=) c.866C= (p.Pro289=) c.2068C= c.100C= c.1809C= c.4203C= (n.4203C=) c.10586C= (p.Pro3529=) n.4515C= c.10715C= (p.Pro3572=) | |
2 | g.73572589C>G | CA347285042 | ALMS1 | c.10331C>G (p.Pro3444Arg) c.3417C>G c.7612C>G c.4778C>G (p.Pro1593Arg) c.7657C>G c.10712C>G (p.Pro3571Arg) c.866C>G (p.Pro289Arg) c.2068C>G c.100C>G c.1809C>G c.4203C>G (n.4203C>G) c.10586C>G (p.Pro3529Arg) n.4515C>G c.10715C>G (p.Pro3572Arg) | gnomAD v4 |
2 | g.73572589C>T | CA347285037 | ALMS1 | c.10331C>T (p.Pro3444Leu) c.3417C>T c.7612C>T c.4778C>T (p.Pro1593Leu) c.7657C>T c.10712C>T (p.Pro3571Leu) c.866C>T (p.Pro289Leu) c.2068C>T c.100C>T c.1809C>T c.4203C>T (n.4203C>T) c.10586C>T (p.Pro3529Leu) n.4515C>T c.10715C>T (p.Pro3572Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572590A>C | CA427024221 | ALMS1 | c.10332A>C (p.Pro3444=) c.3418A>C c.7613A>C c.4779A>C (p.Pro1593=) c.7658A>C c.10713A>C (p.Pro3571=) c.867A>C (p.Pro289=) c.2069A>C c.101A>C c.1810A>C c.4204A>C (n.4204A>C) c.10587A>C (p.Pro3529=) n.4516A>C c.10716A>C (p.Pro3572=) | |
2 | g.73572590A>G | CA427024218 | ALMS1 | c.10332A>G (p.Pro3444=) c.3418A>G c.7613A>G c.4779A>G (p.Pro1593=) c.7658A>G c.10713A>G (p.Pro3571=) c.867A>G (p.Pro289=) c.2069A>G c.101A>G c.1810A>G c.4204A>G (n.4204A>G) c.10587A>G (p.Pro3529=) n.4516A>G c.10716A>G (p.Pro3572=) | |
2 | g.73572590A>T | CA427024216 | ALMS1 | c.10332A>T (p.Pro3444=) c.3418A>T c.7613A>T c.4779A>T (p.Pro1593=) c.7658A>T c.10713A>T (p.Pro3571=) c.867A>T (p.Pro289=) c.2069A>T c.101A>T c.1810A>T c.4204A>T (n.4204A>T) c.10587A>T (p.Pro3529=) n.4516A>T c.10716A>T (p.Pro3572=) | |
2 | g.73572591A>C | CA347285044 | ALMS1 | c.10333A>C (p.Lys3445Gln) c.3419A>C c.7614A>C c.4780A>C (p.Lys1594Gln) c.7659A>C c.10714A>C (p.Lys3572Gln) c.868A>C (p.Lys290Gln) c.2070A>C c.102A>C c.1811A>C c.4205A>C (n.4205A>C) c.10588A>C (p.Lys3530Gln) n.4517A>C c.10717A>C (p.Lys3573Gln) | |
2 | g.73572591A>G | CA347285047 | ALMS1 | c.10333A>G (p.Lys3445Glu) c.3419A>G c.7614A>G c.4780A>G (p.Lys1594Glu) c.7659A>G c.10714A>G (p.Lys3572Glu) c.868A>G (p.Lys290Glu) c.2070A>G c.102A>G c.1811A>G c.4205A>G (n.4205A>G) c.10588A>G (p.Lys3530Glu) n.4517A>G c.10717A>G (p.Lys3573Glu) | dbSNP |
2 | g.73572591A>T | CA347285049 | ALMS1 | c.10333A>T (p.Lys3445Ter) c.3419A>T c.7614A>T c.4780A>T (p.Lys1594Ter) c.7659A>T c.10714A>T (p.Lys3572Ter) c.868A>T (p.Lys290Ter) c.2070A>T c.102A>T c.1811A>T c.4205A>T (n.4205A>T) c.10588A>T (p.Lys3530Ter) n.4517A>T c.10717A>T (p.Lys3573Ter) | |
2 | g.73572592A= | CA1261021340 | ALMS1 | c.10334A= (p.Lys3445=) c.3420A= c.7615A= c.4781A= (p.Lys1594=) c.7660A= c.10715A= (p.Lys3572=) c.869A= (p.Lys290=) c.2071A= c.103A= c.1812A= c.4206A= (n.4206A=) c.10589A= (p.Lys3530=) n.4518A= c.10718A= (p.Lys3573=) | |
2 | g.73572592A>C | CA347285051 | ALMS1 | c.10334A>C (p.Lys3445Thr) c.3420A>C c.7615A>C c.4781A>C (p.Lys1594Thr) c.7660A>C c.10715A>C (p.Lys3572Thr) c.869A>C (p.Lys290Thr) c.2071A>C c.103A>C c.1812A>C c.4206A>C (n.4206A>C) c.10589A>C (p.Lys3530Thr) n.4518A>C c.10718A>C (p.Lys3573Thr) | |
2 | g.73572592A>G | CA1715046 | ALMS1 | c.10334A>G (p.Lys3445Arg) c.3420A>G c.7615A>G c.4781A>G (p.Lys1594Arg) c.7660A>G c.10715A>G (p.Lys3572Arg) c.869A>G (p.Lys290Arg) c.2071A>G c.103A>G c.1812A>G c.4206A>G (n.4206A>G) c.10589A>G (p.Lys3530Arg) n.4518A>G c.10718A>G (p.Lys3573Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572592A>T | CA347285054 | ALMS1 | c.10334A>T (p.Lys3445Ile) c.3420A>T c.7615A>T c.4781A>T (p.Lys1594Ile) c.7660A>T c.10715A>T (p.Lys3572Ile) c.869A>T (p.Lys290Ile) c.2071A>T c.103A>T c.1812A>T c.4206A>T (n.4206A>T) c.10589A>T (p.Lys3530Ile) n.4518A>T c.10718A>T (p.Lys3573Ile) | |
2 | g.73572593A>C | CA347285056 | ALMS1 | c.10335A>C (p.Lys3445Asn) c.3421A>C c.7616A>C c.4782A>C (p.Lys1594Asn) c.7661A>C c.10716A>C (p.Lys3572Asn) c.870A>C (p.Lys290Asn) c.2072A>C c.104A>C c.1813A>C c.4207A>C (n.4207A>C) c.10590A>C (p.Lys3530Asn) n.4519A>C c.10719A>C (p.Lys3573Asn) | |
2 | g.73572593A>G | CA427024226 | ALMS1 | c.10335A>G (p.Lys3445=) c.3421A>G c.7616A>G c.4782A>G (p.Lys1594=) c.7661A>G c.10716A>G (p.Lys3572=) c.870A>G (p.Lys290=) c.2072A>G c.104A>G c.1813A>G c.4207A>G (n.4207A>G) c.10590A>G (p.Lys3530=) n.4519A>G c.10719A>G (p.Lys3573=) | ClinVar dbSNP gnomAD v4 |
2 | g.73572593A>T | CA347285057 | ALMS1 | c.10335A>T (p.Lys3445Asn) c.3421A>T c.7616A>T c.4782A>T (p.Lys1594Asn) c.7661A>T c.10716A>T (p.Lys3572Asn) c.870A>T (p.Lys290Asn) c.2072A>T c.104A>T c.1813A>T c.4207A>T (n.4207A>T) c.10590A>T (p.Lys3530Asn) n.4519A>T c.10719A>T (p.Lys3573Asn) | |
2 | g.73572594C>A | CA347285061 | ALMS1 | c.10336C>A (p.His3446Asn) c.3422C>A c.7617C>A c.4783C>A (p.His1595Asn) c.7662C>A c.10717C>A (p.His3573Asn) c.871C>A (p.His291Asn) c.2073C>A c.105C>A c.1814C>A c.4208C>A (n.4208C>A) c.10591C>A (p.His3531Asn) n.4520C>A c.10720C>A (p.His3574Asn) | |
2 | g.73572594C>G | CA347285062 | ALMS1 | c.10336C>G (p.His3446Asp) c.3422C>G c.7617C>G c.4783C>G (p.His1595Asp) c.7662C>G c.10717C>G (p.His3573Asp) c.871C>G (p.His291Asp) c.2073C>G c.105C>G c.1814C>G c.4208C>G (n.4208C>G) c.10591C>G (p.His3531Asp) n.4520C>G c.10720C>G (p.His3574Asp) | |
2 | g.73572594C>T | CA347285064 | ALMS1 | c.10336C>T (p.His3446Tyr) c.3422C>T c.7617C>T c.4783C>T (p.His1595Tyr) c.7662C>T c.10717C>T (p.His3573Tyr) c.871C>T (p.His291Tyr) c.2073C>T c.105C>T c.1814C>T c.4208C>T (n.4208C>T) c.10591C>T (p.His3531Tyr) n.4520C>T c.10720C>T (p.His3574Tyr) | |
2 | g.73572595A= | CA1261021346 | ALMS1 | c.10337A= (p.His3446=) c.3423A= c.7618A= c.4784A= (p.His1595=) c.7663A= c.10718A= (p.His3573=) c.872A= (p.His291=) c.2074A= c.106A= c.1815A= c.4209A= (n.4209A=) c.10592A= (p.His3531=) n.4521A= c.10721A= (p.His3574=) | |
2 | g.73572595A>C | CA347285069 | ALMS1 | c.10337A>C (p.His3446Pro) c.3423A>C c.7618A>C c.4784A>C (p.His1595Pro) c.7663A>C c.10718A>C (p.His3573Pro) c.872A>C (p.His291Pro) c.2074A>C c.106A>C c.1815A>C c.4209A>C (n.4209A>C) c.10592A>C (p.His3531Pro) n.4521A>C c.10721A>C (p.His3574Pro) | |
2 | g.73572595A>G | CA347285068 | ALMS1 | c.10337A>G (p.His3446Arg) c.3423A>G c.7618A>G c.4784A>G (p.His1595Arg) c.7663A>G c.10718A>G (p.His3573Arg) c.872A>G (p.His291Arg) c.2074A>G c.106A>G c.1815A>G c.4209A>G (n.4209A>G) c.10592A>G (p.His3531Arg) n.4521A>G c.10721A>G (p.His3574Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572595A>T | CA347285066 | ALMS1 | c.10337A>T (p.His3446Leu) c.3423A>T c.7618A>T c.4784A>T (p.His1595Leu) c.7663A>T c.10718A>T (p.His3573Leu) c.872A>T (p.His291Leu) c.2074A>T c.106A>T c.1815A>T c.4209A>T (n.4209A>T) c.10592A>T (p.His3531Leu) n.4521A>T c.10721A>T (p.His3574Leu) | |
2 | g.73572596T>A | CA347285075 | ALMS1 | c.10338T>A (p.His3446Gln) c.3424T>A c.7619T>A c.4785T>A (p.His1595Gln) c.7664T>A c.10719T>A (p.His3573Gln) c.873T>A (p.His291Gln) c.2075T>A c.107T>A c.1816T>A c.4210T>A (n.4210T>A) c.10593T>A (p.His3531Gln) n.4522T>A c.10722T>A (p.His3574Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572596T>C | CA427024228 | ALMS1 | c.10338T>C (p.His3446=) c.3424T>C c.7619T>C c.4785T>C (p.His1595=) c.7664T>C c.10719T>C (p.His3573=) c.873T>C (p.His291=) c.2075T>C c.107T>C c.1816T>C c.4210T>C (n.4210T>C) c.10593T>C (p.His3531=) n.4522T>C c.10722T>C (p.His3574=) | |
2 | g.73572596T>G | CA347285076 | ALMS1 | c.10338T>G (p.His3446Gln) c.3424T>G c.7619T>G c.4785T>G (p.His1595Gln) c.7664T>G c.10719T>G (p.His3573Gln) c.873T>G (p.His291Gln) c.2075T>G c.107T>G c.1816T>G c.4210T>G (n.4210T>G) c.10593T>G (p.His3531Gln) n.4522T>G c.10722T>G (p.His3574Gln) | |
2 | g.73572596T= | CA1261021350 | ALMS1 | c.10338T= (p.His3446=) c.3424T= c.7619T= c.4785T= (p.His1595=) c.7664T= c.10719T= (p.His3573=) c.873T= (p.His291=) c.2075T= c.107T= c.1816T= c.4210T= (n.4210T=) c.10593T= (p.His3531=) n.4522T= c.10722T= (p.His3574=) | |
2 | g.73572597A>C | CA347285080 | ALMS1 | c.10339A>C (p.Asn3447His) c.3425A>C c.7620A>C c.4786A>C (p.Asn1596His) c.7665A>C c.10720A>C (p.Asn3574His) c.874A>C (p.Asn292His) c.2076A>C c.108A>C c.1817A>C c.4211A>C (n.4211A>C) c.10594A>C (p.Asn3532His) n.4523A>C c.10723A>C (p.Asn3575His) | |
2 | g.73572597A>G | CA347285081 | ALMS1 | c.10339A>G (p.Asn3447Asp) c.3425A>G c.7620A>G c.4786A>G (p.Asn1596Asp) c.7665A>G c.10720A>G (p.Asn3574Asp) c.874A>G (p.Asn292Asp) c.2076A>G c.108A>G c.1817A>G c.4211A>G (n.4211A>G) c.10594A>G (p.Asn3532Asp) n.4523A>G c.10723A>G (p.Asn3575Asp) | gnomAD v4 |
2 | g.73572597A>T | CA347285084 | ALMS1 | c.10339A>T (p.Asn3447Tyr) c.3425A>T c.7620A>T c.4786A>T (p.Asn1596Tyr) c.7665A>T c.10720A>T (p.Asn3574Tyr) c.874A>T (p.Asn292Tyr) c.2076A>T c.108A>T c.1817A>T c.4211A>T (n.4211A>T) c.10594A>T (p.Asn3532Tyr) n.4523A>T c.10723A>T (p.Asn3575Tyr) | |
2 | g.73572598A= | CA1261021353 | ALMS1 | c.10340A= (p.Asn3447=) c.3426A= c.7621A= c.4787A= (p.Asn1596=) c.7666A= c.10721A= (p.Asn3574=) c.875A= (p.Asn292=) c.2077A= c.109A= c.1818A= c.4212A= (n.4212A=) c.10595A= (p.Asn3532=) n.4524A= c.10724A= (p.Asn3575=) | |
2 | g.73572598A>C | CA347285087 | ALMS1 | c.10340A>C (p.Asn3447Thr) c.3426A>C c.7621A>C c.4787A>C (p.Asn1596Thr) c.7666A>C c.10721A>C (p.Asn3574Thr) c.875A>C (p.Asn292Thr) c.2077A>C c.109A>C c.1818A>C c.4212A>C (n.4212A>C) c.10595A>C (p.Asn3532Thr) n.4524A>C c.10724A>C (p.Asn3575Thr) | |
2 | g.73572598A>G | CA50386387 | ALMS1 | c.10340A>G (p.Asn3447Ser) c.3426A>G c.7621A>G c.4787A>G (p.Asn1596Ser) c.7666A>G c.10721A>G (p.Asn3574Ser) c.875A>G (p.Asn292Ser) c.2077A>G c.109A>G c.1818A>G c.4212A>G (n.4212A>G) c.10595A>G (p.Asn3532Ser) n.4524A>G c.10724A>G (p.Asn3575Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572598A>T | CA347285091 | ALMS1 | c.10340A>T (p.Asn3447Ile) c.3426A>T c.7621A>T c.4787A>T (p.Asn1596Ile) c.7666A>T c.10721A>T (p.Asn3574Ile) c.875A>T (p.Asn292Ile) c.2077A>T c.109A>T c.1818A>T c.4212A>T (n.4212A>T) c.10595A>T (p.Asn3532Ile) n.4524A>T c.10724A>T (p.Asn3575Ile) | |
2 | g.73572599T>A | CA347285095 | ALMS1 | c.10341T>A (p.Asn3447Lys) c.3427T>A c.7622T>A c.4788T>A (p.Asn1596Lys) c.7667T>A c.10722T>A (p.Asn3574Lys) c.876T>A (p.Asn292Lys) c.2078T>A c.110T>A c.1819T>A c.4213T>A (n.4213T>A) c.10596T>A (p.Asn3532Lys) n.4525T>A c.10725T>A (p.Asn3575Lys) | |
2 | g.73572599T>C | CA427024230 | ALMS1 | c.10341T>C (p.Asn3447=) c.3427T>C c.7622T>C c.4788T>C (p.Asn1596=) c.7667T>C c.10722T>C (p.Asn3574=) c.876T>C (p.Asn292=) c.2078T>C c.110T>C c.1819T>C c.4213T>C (n.4213T>C) c.10596T>C (p.Asn3532=) n.4525T>C c.10725T>C (p.Asn3575=) | |
2 | g.73572599T>G | CA347285097 | ALMS1 | c.10341T>G (p.Asn3447Lys) c.3427T>G c.7622T>G c.4788T>G (p.Asn1596Lys) c.7667T>G c.10722T>G (p.Asn3574Lys) c.876T>G (p.Asn292Lys) c.2078T>G c.110T>G c.1819T>G c.4213T>G (n.4213T>G) c.10596T>G (p.Asn3532Lys) n.4525T>G c.10725T>G (p.Asn3575Lys) | |
2 | g.73572600G>A | CA1715047 | ALMS1 | c.10342G>A (p.Gly3448Arg) c.3428G>A c.7623G>A c.4789G>A (p.Gly1597Arg) c.7668G>A c.10723G>A (p.Gly3575Arg) c.877G>A (p.Gly293Arg) c.2079G>A c.111G>A c.1820G>A c.4214G>A (n.4214G>A) c.10597G>A (p.Gly3533Arg) n.4526G>A c.10726G>A (p.Gly3576Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572600G>C | CA347285100 | ALMS1 | c.10342G>C (p.Gly3448Arg) c.3428G>C c.7623G>C c.4789G>C (p.Gly1597Arg) c.7668G>C c.10723G>C (p.Gly3575Arg) c.877G>C (p.Gly293Arg) c.2079G>C c.111G>C c.1820G>C c.4214G>C (n.4214G>C) c.10597G>C (p.Gly3533Arg) n.4526G>C c.10726G>C (p.Gly3576Arg) | |
2 | g.73572600G= | CA1261021362 | ALMS1 | c.10342G= (p.Gly3448=) c.3428G= c.7623G= c.4789G= (p.Gly1597=) c.7668G= c.10723G= (p.Gly3575=) c.877G= (p.Gly293=) c.2079G= c.111G= c.1820G= c.4214G= (n.4214G=) c.10597G= (p.Gly3533=) n.4526G= c.10726G= (p.Gly3576=) | |
2 | g.73572600G>T | CA347285102 | ALMS1 | c.10342G>T (p.Gly3448Ter) c.3428G>T c.7623G>T c.4789G>T (p.Gly1597Ter) c.7668G>T c.10723G>T (p.Gly3575Ter) c.877G>T (p.Gly293Ter) c.2079G>T c.111G>T c.1820G>T c.4214G>T (n.4214G>T) c.10597G>T (p.Gly3533Ter) n.4526G>T c.10726G>T (p.Gly3576Ter) | |
2 | g.73572601G>A | CA1715048 | ALMS1 | c.10343G>A (p.Gly3448Glu) c.3429G>A c.7624G>A c.4790G>A (p.Gly1597Glu) c.7669G>A c.10724G>A (p.Gly3575Glu) c.878G>A (p.Gly293Glu) c.2080G>A c.112G>A c.1821G>A c.4215G>A (n.4215G>A) c.10598G>A (p.Gly3533Glu) n.4527G>A c.10727G>A (p.Gly3576Glu) | dbSNP ExAC gnomAD v4 |
2 | g.73572601G>C | CA347285112 | ALMS1 | c.10343G>C (p.Gly3448Ala) c.3429G>C c.7624G>C c.4790G>C (p.Gly1597Ala) c.7669G>C c.10724G>C (p.Gly3575Ala) c.878G>C (p.Gly293Ala) c.2080G>C c.112G>C c.1821G>C c.4215G>C (n.4215G>C) c.10598G>C (p.Gly3533Ala) n.4527G>C c.10727G>C (p.Gly3576Ala) | dbSNP |
2 | g.73572601G= | CA1261021370 | ALMS1 | c.10343G= (p.Gly3448=) c.3429G= c.7624G= c.4790G= (p.Gly1597=) c.7669G= c.10724G= (p.Gly3575=) c.878G= (p.Gly293=) c.2080G= c.112G= c.1821G= c.4215G= (n.4215G=) c.10598G= (p.Gly3533=) n.4527G= c.10727G= (p.Gly3576=) | |
2 | g.73572601G>T | CA347285108 | ALMS1 | c.10343G>T (p.Gly3448Val) c.3429G>T c.7624G>T c.4790G>T (p.Gly1597Val) c.7669G>T c.10724G>T (p.Gly3575Val) c.878G>T (p.Gly293Val) c.2080G>T c.112G>T c.1821G>T c.4215G>T (n.4215G>T) c.10598G>T (p.Gly3533Val) n.4527G>T c.10727G>T (p.Gly3576Val) | |
2 | g.73572602A>C | CA427024232 | ALMS1 | c.10344A>C (p.Gly3448=) c.3430A>C c.7625A>C c.4791A>C (p.Gly1597=) c.7670A>C c.10725A>C (p.Gly3575=) c.879A>C (p.Gly293=) c.2081A>C c.113A>C c.1822A>C c.4216A>C (n.4216A>C) c.10599A>C (p.Gly3533=) n.4528A>C c.10728A>C (p.Gly3576=) | |
2 | g.73572602A>G | CA427024233 | ALMS1 | c.10344A>G (p.Gly3448=) c.3430A>G c.7625A>G c.4791A>G (p.Gly1597=) c.7670A>G c.10725A>G (p.Gly3575=) c.879A>G (p.Gly293=) c.2081A>G c.113A>G c.1822A>G c.4216A>G (n.4216A>G) c.10599A>G (p.Gly3533=) n.4528A>G c.10728A>G (p.Gly3576=) | |
2 | g.73572602A>T | CA427024234 | ALMS1 | c.10344A>T (p.Gly3448=) c.3430A>T c.7625A>T c.4791A>T (p.Gly1597=) c.7670A>T c.10725A>T (p.Gly3575=) c.879A>T (p.Gly293=) c.2081A>T c.113A>T c.1822A>T c.4216A>T (n.4216A>T) c.10599A>T (p.Gly3533=) n.4528A>T c.10728A>T (p.Gly3576=) | |
2 | g.73572603C>A | CA347285120 | ALMS1 | c.10345C>A (p.Gln3449Lys) c.3431C>A c.7626C>A c.4792C>A (p.Gln1598Lys) c.7671C>A c.10726C>A (p.Gln3576Lys) c.880C>A (p.Gln294Lys) c.2082C>A c.114C>A c.1823C>A c.4217C>A (n.4217C>A) c.10600C>A (p.Gln3534Lys) n.4529C>A c.10729C>A (p.Gln3577Lys) | gnomAD v4 |
2 | g.73572603C= | CA1261021375 | ALMS1 | c.10345C= (p.Gln3449=) c.3431C= c.7626C= c.4792C= (p.Gln1598=) c.7671C= c.10726C= (p.Gln3576=) c.880C= (p.Gln294=) c.2082C= c.114C= c.1823C= c.4217C= (n.4217C=) c.10600C= (p.Gln3534=) n.4529C= c.10729C= (p.Gln3577=) | |
2 | g.73572603C>G | CA347285115 | ALMS1 | c.10345C>G (p.Gln3449Glu) c.3431C>G c.7626C>G c.4792C>G (p.Gln1598Glu) c.7671C>G c.10726C>G (p.Gln3576Glu) c.880C>G (p.Gln294Glu) c.2082C>G c.114C>G c.1823C>G c.4217C>G (n.4217C>G) c.10600C>G (p.Gln3534Glu) n.4529C>G c.10729C>G (p.Gln3577Glu) | gnomAD v4 |
2 | g.73572603C>T | CA347285118 | ALMS1 | c.10345C>T (p.Gln3449Ter) c.3431C>T c.7626C>T c.4792C>T (p.Gln1598Ter) c.7671C>T c.10726C>T (p.Gln3576Ter) c.880C>T (p.Gln294Ter) c.2082C>T c.114C>T c.1823C>T c.4217C>T (n.4217C>T) c.10600C>T (p.Gln3534Ter) n.4529C>T c.10729C>T (p.Gln3577Ter) | dbSNP gnomAD v2 |
2 | g.73572604A= | CA1261021380 | ALMS1 | c.10346A= (p.Gln3449=) c.3432A= c.7627A= c.4793A= (p.Gln1598=) c.7672A= c.10727A= (p.Gln3576=) c.881A= (p.Gln294=) c.2083A= c.115A= c.1824A= c.4218A= (n.4218A=) c.10601A= (p.Gln3534=) n.4530A= c.10730A= (p.Gln3577=) | |
2 | g.73572604A>C | CA347285124 | ALMS1 | c.10346A>C (p.Gln3449Pro) c.3432A>C c.7627A>C c.4793A>C (p.Gln1598Pro) c.7672A>C c.10727A>C (p.Gln3576Pro) c.881A>C (p.Gln294Pro) c.2083A>C c.115A>C c.1824A>C c.4218A>C (n.4218A>C) c.10601A>C (p.Gln3534Pro) n.4530A>C c.10730A>C (p.Gln3577Pro) | |
2 | g.73572604A>G | CA347285125 | ALMS1 | c.10346A>G (p.Gln3449Arg) c.3432A>G c.7627A>G c.4793A>G (p.Gln1598Arg) c.7672A>G c.10727A>G (p.Gln3576Arg) c.881A>G (p.Gln294Arg) c.2083A>G c.115A>G c.1824A>G c.4218A>G (n.4218A>G) c.10601A>G (p.Gln3534Arg) n.4530A>G c.10730A>G (p.Gln3577Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572604A>T | CA347285127 | ALMS1 | c.10346A>T (p.Gln3449Leu) c.3432A>T c.7627A>T c.4793A>T (p.Gln1598Leu) c.7672A>T c.10727A>T (p.Gln3576Leu) c.881A>T (p.Gln294Leu) c.2083A>T c.115A>T c.1824A>T c.4218A>T (n.4218A>T) c.10601A>T (p.Gln3534Leu) n.4530A>T c.10730A>T (p.Gln3577Leu) | |
2 | g.73572605A>C | CA347285131 | ALMS1 | c.10347A>C (p.Gln3449His) c.3433A>C c.7628A>C c.4794A>C (p.Gln1598His) c.7673A>C c.10728A>C (p.Gln3576His) c.882A>C (p.Gln294His) c.2084A>C c.116A>C c.1825A>C c.4219A>C (n.4219A>C) c.10602A>C (p.Gln3534His) n.4531A>C c.10731A>C (p.Gln3577His) | |
2 | g.73572605A>G | CA427024235 | ALMS1 | c.10347A>G (p.Gln3449=) c.3433A>G c.7628A>G c.4794A>G (p.Gln1598=) c.7673A>G c.10728A>G (p.Gln3576=) c.882A>G (p.Gln294=) c.2084A>G c.116A>G c.1825A>G c.4219A>G (n.4219A>G) c.10602A>G (p.Gln3534=) n.4531A>G c.10731A>G (p.Gln3577=) | ClinVar |
2 | g.73572605A>T | CA347285133 | ALMS1 | c.10347A>T (p.Gln3449His) c.3433A>T c.7628A>T c.4794A>T (p.Gln1598His) c.7673A>T c.10728A>T (p.Gln3576His) c.882A>T (p.Gln294His) c.2084A>T c.116A>T c.1825A>T c.4219A>T (n.4219A>T) c.10602A>T (p.Gln3534His) n.4531A>T c.10731A>T (p.Gln3577His) | |
2 | g.73572606A>C | CA347285135 | ALMS1 | c.10348A>C (p.Ile3450Leu) c.3434A>C c.7629A>C c.4795A>C (p.Ile1599Leu) c.7674A>C c.10729A>C (p.Ile3577Leu) c.883A>C (p.Ile295Leu) c.2085A>C c.117A>C c.1826A>C c.4220A>C (n.4220A>C) c.10603A>C (p.Ile3535Leu) n.4532A>C c.10732A>C (p.Ile3578Leu) | |
2 | g.73572606A>G | CA347285138 | ALMS1 | c.10348A>G (p.Ile3450Val) c.3434A>G c.7629A>G c.4795A>G (p.Ile1599Val) c.7674A>G c.10729A>G (p.Ile3577Val) c.883A>G (p.Ile295Val) c.2085A>G c.117A>G c.1826A>G c.4220A>G (n.4220A>G) c.10603A>G (p.Ile3535Val) n.4532A>G c.10732A>G (p.Ile3578Val) | |
2 | g.73572606A>T | CA347285137 | ALMS1 | c.10348A>T (p.Ile3450Phe) c.3434A>T c.7629A>T c.4795A>T (p.Ile1599Phe) c.7674A>T c.10729A>T (p.Ile3577Phe) c.883A>T (p.Ile295Phe) c.2085A>T c.117A>T c.1826A>T c.4220A>T (n.4220A>T) c.10603A>T (p.Ile3535Phe) n.4532A>T c.10732A>T (p.Ile3578Phe) | |
2 | g.73572607T>A | CA347285141 | ALMS1 | c.10349T>A (p.Ile3450Asn) c.3435T>A c.7630T>A c.4796T>A (p.Ile1599Asn) c.7675T>A c.10730T>A (p.Ile3577Asn) c.884T>A (p.Ile295Asn) c.2086T>A c.118T>A c.1827T>A c.4221T>A (n.4221T>A) c.10604T>A (p.Ile3535Asn) n.4533T>A c.10733T>A (p.Ile3578Asn) | |
2 | g.73572607T>C | CA347285142 | ALMS1 | c.10349T>C (p.Ile3450Thr) c.3435T>C c.7630T>C c.4796T>C (p.Ile1599Thr) c.7675T>C c.10730T>C (p.Ile3577Thr) c.884T>C (p.Ile295Thr) c.2086T>C c.118T>C c.1827T>C c.4221T>C (n.4221T>C) c.10604T>C (p.Ile3535Thr) n.4533T>C c.10733T>C (p.Ile3578Thr) | |
2 | g.73572607T>G | CA347285144 | ALMS1 | c.10349T>G (p.Ile3450Ser) c.3435T>G c.7630T>G c.4796T>G (p.Ile1599Ser) c.7675T>G c.10730T>G (p.Ile3577Ser) c.884T>G (p.Ile295Ser) c.2086T>G c.118T>G c.1827T>G c.4221T>G (n.4221T>G) c.10604T>G (p.Ile3535Ser) n.4533T>G c.10733T>G (p.Ile3578Ser) | |
2 | g.73572608T>A | CA427024240 | ALMS1 | c.10350T>A (p.Ile3450=) c.3436T>A c.7631T>A c.4797T>A (p.Ile1599=) c.7676T>A c.10731T>A (p.Ile3577=) c.885T>A (p.Ile295=) c.2087T>A c.119T>A c.1828T>A c.4222T>A (n.4222T>A) c.10605T>A (p.Ile3535=) n.4534T>A c.10734T>A (p.Ile3578=) | |
2 | g.73572608T>C | CA427024239 | ALMS1 | c.10350T>C (p.Ile3450=) c.3436T>C c.7631T>C c.4797T>C (p.Ile1599=) c.7676T>C c.10731T>C (p.Ile3577=) c.885T>C (p.Ile295=) c.2087T>C c.119T>C c.1828T>C c.4222T>C (n.4222T>C) c.10605T>C (p.Ile3535=) n.4534T>C c.10734T>C (p.Ile3578=) | ClinVar dbSNP gnomAD v4 |
2 | g.73572608T>G | CA347285146 | ALMS1 | c.10350T>G (p.Ile3450Met) c.3436T>G c.7631T>G c.4797T>G (p.Ile1599Met) c.7676T>G c.10731T>G (p.Ile3577Met) c.885T>G (p.Ile295Met) c.2087T>G c.119T>G c.1828T>G c.4222T>G (n.4222T>G) c.10605T>G (p.Ile3535Met) n.4534T>G c.10734T>G (p.Ile3578Met) | |
2 | g.73572608T= | CA1261021387 | ALMS1 | c.10350T= (p.Ile3450=) c.3436T= c.7631T= c.4797T= (p.Ile1599=) c.7676T= c.10731T= (p.Ile3577=) c.885T= (p.Ile295=) c.2087T= c.119T= c.1828T= c.4222T= (n.4222T=) c.10605T= (p.Ile3535=) n.4534T= c.10734T= (p.Ile3578=) | |
2 | g.73572609A>C | CA347285148 | ALMS1 | c.10351A>C (p.Ser3451Arg) c.3437A>C c.7632A>C c.4798A>C (p.Ser1600Arg) c.7677A>C c.10732A>C (p.Ser3578Arg) c.886A>C (p.Ser296Arg) c.2088A>C c.120A>C c.1829A>C c.4223A>C (n.4223A>C) c.10606A>C (p.Ser3536Arg) n.4535A>C c.10735A>C (p.Ser3579Arg) | |
2 | g.73572609A>G | CA347285152 | ALMS1 | c.10351A>G (p.Ser3451Gly) c.3437A>G c.7632A>G c.4798A>G (p.Ser1600Gly) c.7677A>G c.10732A>G (p.Ser3578Gly) c.886A>G (p.Ser296Gly) c.2088A>G c.120A>G c.1829A>G c.4223A>G (n.4223A>G) c.10606A>G (p.Ser3536Gly) n.4535A>G c.10735A>G (p.Ser3579Gly) | gnomAD v4 |
2 | g.73572609A>T | CA347285150 | ALMS1 | c.10351A>T (p.Ser3451Cys) c.3437A>T c.7632A>T c.4798A>T (p.Ser1600Cys) c.7677A>T c.10732A>T (p.Ser3578Cys) c.886A>T (p.Ser296Cys) c.2088A>T c.120A>T c.1829A>T c.4223A>T (n.4223A>T) c.10606A>T (p.Ser3536Cys) n.4535A>T c.10735A>T (p.Ser3579Cys) | |
2 | g.73572610G>A | CA347285155 | ALMS1 | c.10352G>A (p.Ser3451Asn) c.3438G>A c.7633G>A c.4799G>A (p.Ser1600Asn) c.7678G>A c.10733G>A (p.Ser3578Asn) c.887G>A (p.Ser296Asn) c.2089G>A c.121G>A c.1830G>A c.4224G>A (n.4224G>A) c.10607G>A (p.Ser3536Asn) n.4536G>A c.10736G>A (p.Ser3579Asn) | ClinVar dbSNP |
2 | g.73572610G>C | CA347285156 | ALMS1 | c.10352G>C (p.Ser3451Thr) c.3438G>C c.7633G>C c.4799G>C (p.Ser1600Thr) c.7678G>C c.10733G>C (p.Ser3578Thr) c.887G>C (p.Ser296Thr) c.2089G>C c.121G>C c.1830G>C c.4224G>C (n.4224G>C) c.10607G>C (p.Ser3536Thr) n.4536G>C c.10736G>C (p.Ser3579Thr) | |
2 | g.73572610G= | CA1261021392 | ALMS1 | c.10352G= (p.Ser3451=) c.3438G= c.7633G= c.4799G= (p.Ser1600=) c.7678G= c.10733G= (p.Ser3578=) c.887G= (p.Ser296=) c.2089G= c.121G= c.1830G= c.4224G= (n.4224G=) c.10607G= (p.Ser3536=) n.4536G= c.10736G= (p.Ser3579=) | |
2 | g.73572610G>T | CA347285158 | ALMS1 | c.10352G>T (p.Ser3451Ile) c.3438G>T c.7633G>T c.4799G>T (p.Ser1600Ile) c.7678G>T c.10733G>T (p.Ser3578Ile) c.887G>T (p.Ser296Ile) c.2089G>T c.121G>T c.1830G>T c.4224G>T (n.4224G>T) c.10607G>T (p.Ser3536Ile) n.4536G>T c.10736G>T (p.Ser3579Ile) | |
2 | g.73572611T>A | CA347285160 | ALMS1 | c.10353T>A (p.Ser3451Arg) c.3439T>A c.7634T>A c.4800T>A (p.Ser1600Arg) c.7679T>A c.10734T>A (p.Ser3578Arg) c.888T>A (p.Ser296Arg) c.2090T>A c.122T>A c.1831T>A c.4225T>A (n.4225T>A) c.10608T>A (p.Ser3536Arg) n.4537T>A c.10737T>A (p.Ser3579Arg) | |
2 | g.73572611T>C | CA427024369 | ALMS1 | c.10353T>C (p.Ser3451=) c.3439T>C c.7634T>C c.4800T>C (p.Ser1600=) c.7679T>C c.10734T>C (p.Ser3578=) c.888T>C (p.Ser296=) c.2090T>C c.122T>C c.1831T>C c.4225T>C (n.4225T>C) c.10608T>C (p.Ser3536=) n.4537T>C c.10737T>C (p.Ser3579=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572611T>G | CA347285162 | ALMS1 | c.10353T>G (p.Ser3451Arg) c.3439T>G c.7634T>G c.4800T>G (p.Ser1600Arg) c.7679T>G c.10734T>G (p.Ser3578Arg) c.888T>G (p.Ser296Arg) c.2090T>G c.122T>G c.1831T>G c.4225T>G (n.4225T>G) c.10608T>G (p.Ser3536Arg) n.4537T>G c.10737T>G (p.Ser3579Arg) | dbSNP gnomAD v4 |
2 | g.73572611T= | CA1261021398 | ALMS1 | c.10353T= (p.Ser3451=) c.3439T= c.7634T= c.4800T= (p.Ser1600=) c.7679T= c.10734T= (p.Ser3578=) c.888T= (p.Ser296=) c.2090T= c.122T= c.1831T= c.4225T= (n.4225T=) c.10608T= (p.Ser3536=) n.4537T= c.10737T= (p.Ser3579=) | |
2 | g.73572612G>A | CA347285166 | ALMS1 | c.10354G>A (p.Asp3452Asn) c.3440G>A c.7635G>A c.4801G>A (p.Asp1601Asn) c.7680G>A c.10735G>A (p.Asp3579Asn) c.889G>A (p.Asp297Asn) c.2091G>A c.123G>A c.1832G>A c.4226G>A (n.4226G>A) c.10609G>A (p.Asp3537Asn) n.4538G>A c.10738G>A (p.Asp3580Asn) | dbSNP gnomAD v2 |
2 | g.73572612G>C | CA347285168 | ALMS1 | c.10354G>C (p.Asp3452His) c.3440G>C c.7635G>C c.4801G>C (p.Asp1601His) c.7680G>C c.10735G>C (p.Asp3579His) c.889G>C (p.Asp297His) c.2091G>C c.123G>C c.1832G>C c.4226G>C (n.4226G>C) c.10609G>C (p.Asp3537His) n.4538G>C c.10738G>C (p.Asp3580His) | ClinVar dbSNP |
2 | g.73572612G= | CA1261021404 | ALMS1 | c.10354G= (p.Asp3452=) c.3440G= c.7635G= c.4801G= (p.Asp1601=) c.7680G= c.10735G= (p.Asp3579=) c.889G= (p.Asp297=) c.2091G= c.123G= c.1832G= c.4226G= (n.4226G=) c.10609G= (p.Asp3537=) n.4538G= c.10738G= (p.Asp3580=) | |
2 | g.73572612G>T | CA347285170 | ALMS1 | c.10354G>T (p.Asp3452Tyr) c.3440G>T c.7635G>T c.4801G>T (p.Asp1601Tyr) c.7680G>T c.10735G>T (p.Asp3579Tyr) c.889G>T (p.Asp297Tyr) c.2091G>T c.123G>T c.1832G>T c.4226G>T (n.4226G>T) c.10609G>T (p.Asp3537Tyr) n.4538G>T c.10738G>T (p.Asp3580Tyr) | |
2 | g.73572613A= | CA1261021409 | ALMS1 | c.10355A= (p.Asp3452=) c.3441A= c.7636A= c.4802A= (p.Asp1601=) c.7681A= c.10736A= (p.Asp3579=) c.890A= (p.Asp297=) c.2092A= c.124A= c.1833A= c.4227A= (n.4227A=) c.10610A= (p.Asp3537=) n.4539A= c.10739A= (p.Asp3580=) | |
2 | g.73572613A>C | CA347285174 | ALMS1 | c.10355A>C (p.Asp3452Ala) c.3441A>C c.7636A>C c.4802A>C (p.Asp1601Ala) c.7681A>C c.10736A>C (p.Asp3579Ala) c.890A>C (p.Asp297Ala) c.2092A>C c.124A>C c.1833A>C c.4227A>C (n.4227A>C) c.10610A>C (p.Asp3537Ala) n.4539A>C c.10739A>C (p.Asp3580Ala) | |
2 | g.73572613A>G | CA1715049 | ALMS1 | c.10355A>G (p.Asp3452Gly) c.3441A>G c.7636A>G c.4802A>G (p.Asp1601Gly) c.7681A>G c.10736A>G (p.Asp3579Gly) c.890A>G (p.Asp297Gly) c.2092A>G c.124A>G c.1833A>G c.4227A>G (n.4227A>G) c.10610A>G (p.Asp3537Gly) n.4539A>G c.10739A>G (p.Asp3580Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572613A>T | CA347285179 | ALMS1 | c.10355A>T (p.Asp3452Val) c.3441A>T c.7636A>T c.4802A>T (p.Asp1601Val) c.7681A>T c.10736A>T (p.Asp3579Val) c.890A>T (p.Asp297Val) c.2092A>T c.124A>T c.1833A>T c.4227A>T (n.4227A>T) c.10610A>T (p.Asp3537Val) n.4539A>T c.10739A>T (p.Asp3580Val) | |
2 | g.73572614T>A | CA347285182 | ALMS1 | c.10356T>A (p.Asp3452Glu) c.3442T>A c.7637T>A c.4803T>A (p.Asp1601Glu) c.7682T>A c.10737T>A (p.Asp3579Glu) c.891T>A (p.Asp297Glu) c.2093T>A c.125T>A c.1834T>A c.4228T>A (n.4228T>A) c.10611T>A (p.Asp3537Glu) n.4540T>A c.10740T>A (p.Asp3580Glu) | |
2 | g.73572614T>C | CA427024374 | ALMS1 | c.10356T>C (p.Asp3452=) c.3442T>C c.7637T>C c.4803T>C (p.Asp1601=) c.7682T>C c.10737T>C (p.Asp3579=) c.891T>C (p.Asp297=) c.2093T>C c.125T>C c.1834T>C c.4228T>C (n.4228T>C) c.10611T>C (p.Asp3537=) n.4540T>C c.10740T>C (p.Asp3580=) | |
2 | g.73572614T>G | CA347285184 | ALMS1 | c.10356T>G (p.Asp3452Glu) c.3442T>G c.7637T>G c.4803T>G (p.Asp1601Glu) c.7682T>G c.10737T>G (p.Asp3579Glu) c.891T>G (p.Asp297Glu) c.2093T>G c.125T>G c.1834T>G c.4228T>G (n.4228T>G) c.10611T>G (p.Asp3537Glu) n.4540T>G c.10740T>G (p.Asp3580Glu) | gnomAD v4 |
2 | g.73572615C>A | CA347285187 | ALMS1 | c.10357C>A (p.Pro3453Thr) c.3443C>A c.7638C>A c.4804C>A (p.Pro1602Thr) c.7683C>A c.10738C>A (p.Pro3580Thr) c.892C>A (p.Pro298Thr) c.2094C>A c.126C>A c.1835C>A c.4229C>A (n.4229C>A) c.10612C>A (p.Pro3538Thr) n.4541C>A c.10741C>A (p.Pro3581Thr) | dbSNP |
2 | g.73572615C= | CA1261021413 | ALMS1 | c.10357C= (p.Pro3453=) c.3443C= c.7638C= c.4804C= (p.Pro1602=) c.7683C= c.10738C= (p.Pro3580=) c.892C= (p.Pro298=) c.2094C= c.126C= c.1835C= c.4229C= (n.4229C=) c.10612C= (p.Pro3538=) n.4541C= c.10741C= (p.Pro3581=) | |
2 | g.73572615C>G | CA1715050 | ALMS1 | c.10357C>G (p.Pro3453Ala) c.3443C>G c.7638C>G c.4804C>G (p.Pro1602Ala) c.7683C>G c.10738C>G (p.Pro3580Ala) c.892C>G (p.Pro298Ala) c.2094C>G c.126C>G c.1835C>G c.4229C>G (n.4229C>G) c.10612C>G (p.Pro3538Ala) n.4541C>G c.10741C>G (p.Pro3581Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572615C>T | CA347285191 | ALMS1 | c.10357C>T (p.Pro3453Ser) c.3443C>T c.7638C>T c.4804C>T (p.Pro1602Ser) c.7683C>T c.10738C>T (p.Pro3580Ser) c.892C>T (p.Pro298Ser) c.2094C>T c.126C>T c.1835C>T c.4229C>T (n.4229C>T) c.10612C>T (p.Pro3538Ser) n.4541C>T c.10741C>T (p.Pro3581Ser) | |
2 | g.73572616C>A | CA347285194 | ALMS1 | c.10358C>A (p.Pro3453Gln) c.3444C>A c.7639C>A c.4805C>A (p.Pro1602Gln) c.7684C>A c.10739C>A (p.Pro3580Gln) c.893C>A (p.Pro298Gln) c.2095C>A c.127C>A c.1836C>A c.4230C>A (n.4230C>A) c.10613C>A (p.Pro3538Gln) n.4542C>A c.10742C>A (p.Pro3581Gln) | |
2 | g.73572616C>G | CA347285197 | ALMS1 | c.10358C>G (p.Pro3453Arg) c.3444C>G c.7639C>G c.4805C>G (p.Pro1602Arg) c.7684C>G c.10739C>G (p.Pro3580Arg) c.893C>G (p.Pro298Arg) c.2095C>G c.127C>G c.1836C>G c.4230C>G (n.4230C>G) c.10613C>G (p.Pro3538Arg) n.4542C>G c.10742C>G (p.Pro3581Arg) | |
2 | g.73572616C>T | CA347285199 | ALMS1 | c.10358C>T (p.Pro3453Leu) c.3444C>T c.7639C>T c.4805C>T (p.Pro1602Leu) c.7684C>T c.10739C>T (p.Pro3580Leu) c.893C>T (p.Pro298Leu) c.2095C>T c.127C>T c.1836C>T c.4230C>T (n.4230C>T) c.10613C>T (p.Pro3538Leu) n.4542C>T c.10742C>T (p.Pro3581Leu) | |
2 | g.73572617A>C | CA427024381 | ALMS1 | c.10359A>C (p.Pro3453=) c.3445A>C c.7640A>C c.4806A>C (p.Pro1602=) c.7685A>C c.10740A>C (p.Pro3580=) c.894A>C (p.Pro298=) c.2096A>C c.128A>C c.1837A>C c.4231A>C (n.4231A>C) c.10614A>C (p.Pro3538=) n.4543A>C c.10743A>C (p.Pro3581=) | gnomAD v4 |
2 | g.73572617A>G | CA427024383 | ALMS1 | c.10359A>G (p.Pro3453=) c.3445A>G c.7640A>G c.4806A>G (p.Pro1602=) c.7685A>G c.10740A>G (p.Pro3580=) c.894A>G (p.Pro298=) c.2096A>G c.128A>G c.1837A>G c.4231A>G (n.4231A>G) c.10614A>G (p.Pro3538=) n.4543A>G c.10743A>G (p.Pro3581=) | |
2 | g.73572617A>T | CA427024386 | ALMS1 | c.10359A>T (p.Pro3453=) c.3445A>T c.7640A>T c.4806A>T (p.Pro1602=) c.7685A>T c.10740A>T (p.Pro3580=) c.894A>T (p.Pro298=) c.2096A>T c.128A>T c.1837A>T c.4231A>T (n.4231A>T) c.10614A>T (p.Pro3538=) n.4543A>T c.10743A>T (p.Pro3581=) | |
2 | g.73572618C>A | CA347285203 | ALMS1 | c.10360C>A (p.Gln3454Lys) c.3446C>A c.7641C>A c.4807C>A (p.Gln1603Lys) c.7686C>A c.10741C>A (p.Gln3581Lys) c.895C>A (p.Gln299Lys) c.2097C>A c.129C>A c.1838C>A c.4232C>A (n.4232C>A) c.10615C>A (p.Gln3539Lys) n.4544C>A c.10744C>A (p.Gln3582Lys) | dbSNP |
2 | g.73572618C>G | CA347285206 | ALMS1 | c.10360C>G (p.Gln3454Glu) c.3446C>G c.7641C>G c.4807C>G (p.Gln1603Glu) c.7686C>G c.10741C>G (p.Gln3581Glu) c.895C>G (p.Gln299Glu) c.2097C>G c.129C>G c.1838C>G c.4232C>G (n.4232C>G) c.10615C>G (p.Gln3539Glu) n.4544C>G c.10744C>G (p.Gln3582Glu) | |
2 | g.73572618C>T | CA347285207 | ALMS1 | c.10360C>T (p.Gln3454Ter) c.3446C>T c.7641C>T c.4807C>T (p.Gln1603Ter) c.7686C>T c.10741C>T (p.Gln3581Ter) c.895C>T (p.Gln299Ter) c.2097C>T c.129C>T c.1838C>T c.4232C>T (n.4232C>T) c.10615C>T (p.Gln3539Ter) n.4544C>T c.10744C>T (p.Gln3582Ter) | |
2 | g.73572619A= | CA1261021420 | ALMS1 | c.10361A= (p.Gln3454=) c.3447A= c.7642A= c.4808A= (p.Gln1603=) c.7687A= c.10742A= (p.Gln3581=) c.896A= (p.Gln299=) c.2098A= c.130A= c.1839A= c.4233A= (n.4233A=) c.10616A= (p.Gln3539=) n.4545A= c.10745A= (p.Gln3582=) | |
2 | g.73572619A>C | CA347285212 | ALMS1 | c.10361A>C (p.Gln3454Pro) c.3447A>C c.7642A>C c.4808A>C (p.Gln1603Pro) c.7687A>C c.10742A>C (p.Gln3581Pro) c.896A>C (p.Gln299Pro) c.2098A>C c.130A>C c.1839A>C c.4233A>C (n.4233A>C) c.10616A>C (p.Gln3539Pro) n.4545A>C c.10745A>C (p.Gln3582Pro) | |
2 | g.73572619A>G | CA50386396 | ALMS1 | c.10361A>G (p.Gln3454Arg) c.3447A>G c.7642A>G c.4808A>G (p.Gln1603Arg) c.7687A>G c.10742A>G (p.Gln3581Arg) c.896A>G (p.Gln299Arg) c.2098A>G c.130A>G c.1839A>G c.4233A>G (n.4233A>G) c.10616A>G (p.Gln3539Arg) n.4545A>G c.10745A>G (p.Gln3582Arg) | dbSNP gnomAD v4 |
2 | g.73572619A>T | CA347285215 | ALMS1 | c.10361A>T (p.Gln3454Leu) c.3447A>T c.7642A>T c.4808A>T (p.Gln1603Leu) c.7687A>T c.10742A>T (p.Gln3581Leu) c.896A>T (p.Gln299Leu) c.2098A>T c.130A>T c.1839A>T c.4233A>T (n.4233A>T) c.10616A>T (p.Gln3539Leu) n.4545A>T c.10745A>T (p.Gln3582Leu) | |
2 | g.73572620A= | CA1261021424 | ALMS1 | c.10362A= (p.Gln3454=) c.3448A= c.7643A= c.4809A= (p.Gln1603=) c.7688A= c.10743A= (p.Gln3581=) c.897A= (p.Gln299=) c.2099A= c.131A= c.1840A= c.4234A= (n.4234A=) c.10617A= (p.Gln3539=) n.4546A= c.10746A= (p.Gln3582=) | |
2 | g.73572620A>C | CA1715051 | ALMS1 | c.10362A>C (p.Gln3454His) c.3448A>C c.7643A>C c.4809A>C (p.Gln1603His) c.7688A>C c.10743A>C (p.Gln3581His) c.897A>C (p.Gln299His) c.2099A>C c.131A>C c.1840A>C c.4234A>C (n.4234A>C) c.10617A>C (p.Gln3539His) n.4546A>C c.10746A>C (p.Gln3582His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572620A>G | CA427024393 | ALMS1 | c.10362A>G (p.Gln3454=) c.3448A>G c.7643A>G c.4809A>G (p.Gln1603=) c.7688A>G c.10743A>G (p.Gln3581=) c.897A>G (p.Gln299=) c.2099A>G c.131A>G c.1840A>G c.4234A>G (n.4234A>G) c.10617A>G (p.Gln3539=) n.4546A>G c.10746A>G (p.Gln3582=) | ClinVar |
2 | g.73572620A>T | CA347285218 | ALMS1 | c.10362A>T (p.Gln3454His) c.3448A>T c.7643A>T c.4809A>T (p.Gln1603His) c.7688A>T c.10743A>T (p.Gln3581His) c.897A>T (p.Gln299His) c.2099A>T c.131A>T c.1840A>T c.4234A>T (n.4234A>T) c.10617A>T (p.Gln3539His) n.4546A>T c.10746A>T (p.Gln3582His) | |
2 | g.73572621A>C | CA427024399 | ALMS1 | c.10363A>C (p.Arg3455=) c.3449A>C c.7644A>C c.4810A>C (p.Arg1604=) c.7689A>C c.10744A>C (p.Arg3582=) c.898A>C (p.Arg300=) c.2100A>C c.132A>C c.1841A>C c.4235A>C (n.4235A>C) c.10618A>C (p.Arg3540=) n.4547A>C c.10747A>C (p.Arg3583=) | |
2 | g.73572621A>G | CA347285222 | ALMS1 | c.10363A>G (p.Arg3455Gly) c.3449A>G c.7644A>G c.4810A>G (p.Arg1604Gly) c.7689A>G c.10744A>G (p.Arg3582Gly) c.898A>G (p.Arg300Gly) c.2100A>G c.132A>G c.1841A>G c.4235A>G (n.4235A>G) c.10618A>G (p.Arg3540Gly) n.4547A>G c.10747A>G (p.Arg3583Gly) | gnomAD v4 |
2 | g.73572621A>T | CA347285224 | ALMS1 | c.10363A>T (p.Arg3455Trp) c.3449A>T c.7644A>T c.4810A>T (p.Arg1604Trp) c.7689A>T c.10744A>T (p.Arg3582Trp) c.898A>T (p.Arg300Trp) c.2100A>T c.132A>T c.1841A>T c.4235A>T (n.4235A>T) c.10618A>T (p.Arg3540Trp) n.4547A>T c.10747A>T (p.Arg3583Trp) | |
2 | g.73572622G>A | CA347285227 | ALMS1 | c.10364G>A (p.Arg3455Lys) c.3450G>A c.7645G>A c.4811G>A (p.Arg1604Lys) c.7690G>A c.10745G>A (p.Arg3582Lys) c.899G>A (p.Arg300Lys) c.2101G>A c.133G>A c.1842G>A c.4236G>A (n.4236G>A) c.10619G>A (p.Arg3540Lys) n.4548G>A c.10748G>A (p.Arg3583Lys) | gnomAD v4 |
2 | g.73572622G>C | CA347285229 | ALMS1 | c.10364G>C (p.Arg3455Thr) c.3450G>C c.7645G>C c.4811G>C (p.Arg1604Thr) c.7690G>C c.10745G>C (p.Arg3582Thr) c.899G>C (p.Arg300Thr) c.2101G>C c.133G>C c.1842G>C c.4236G>C (n.4236G>C) c.10619G>C (p.Arg3540Thr) n.4548G>C c.10748G>C (p.Arg3583Thr) | |
2 | g.73572622G>T | CA347285232 | ALMS1 | c.10364G>T (p.Arg3455Met) c.3450G>T c.7645G>T c.4811G>T (p.Arg1604Met) c.7690G>T c.10745G>T (p.Arg3582Met) c.899G>T (p.Arg300Met) c.2101G>T c.133G>T c.1842G>T c.4236G>T (n.4236G>T) c.10619G>T (p.Arg3540Met) n.4548G>T c.10748G>T (p.Arg3583Met) | |
2 | g.73572623G>A | CA427024405 | ALMS1 | c.10365G>A (p.Arg3455=) c.3451G>A c.7646G>A c.4812G>A (p.Arg1604=) c.7691G>A c.10746G>A (p.Arg3582=) c.900G>A (p.Arg300=) c.2102G>A c.134G>A c.1843G>A c.4237G>A (n.4237G>A) c.10620G>A (p.Arg3540=) n.4549G>A c.10749G>A (p.Arg3583=) | |
2 | g.73572623G>C | CA347285235 | ALMS1 | c.10365G>C (p.Arg3455Ser) c.3451G>C c.7646G>C c.4812G>C (p.Arg1604Ser) c.7691G>C c.10746G>C (p.Arg3582Ser) c.900G>C (p.Arg300Ser) c.2102G>C c.134G>C c.1843G>C c.4237G>C (n.4237G>C) c.10620G>C (p.Arg3540Ser) n.4549G>C c.10749G>C (p.Arg3583Ser) | |
2 | g.73572623G>T | CA347285237 | ALMS1 | c.10365G>T (p.Arg3455Ser) c.3451G>T c.7646G>T c.4812G>T (p.Arg1604Ser) c.7691G>T c.10746G>T (p.Arg3582Ser) c.900G>T (p.Arg300Ser) c.2102G>T c.134G>T c.1843G>T c.4237G>T (n.4237G>T) c.10620G>T (p.Arg3540Ser) n.4549G>T c.10749G>T (p.Arg3583Ser) | |
2 | g.73572624G>A | CA347285239 | ALMS1 | c.10366G>A (p.Asp3456Asn) c.3452G>A c.7647G>A c.4813G>A (p.Asp1605Asn) c.7692G>A c.10747G>A (p.Asp3583Asn) c.901G>A (p.Asp301Asn) c.2103G>A c.135G>A c.1844G>A c.4238G>A (n.4238G>A) c.10621G>A (p.Asp3541Asn) n.4550G>A c.10750G>A (p.Asp3584Asn) | |
2 | g.73572624G>C | CA347285242 | ALMS1 | c.10366G>C (p.Asp3456His) c.3452G>C c.7647G>C c.4813G>C (p.Asp1605His) c.7692G>C c.10747G>C (p.Asp3583His) c.901G>C (p.Asp301His) c.2103G>C c.135G>C c.1844G>C c.4238G>C (n.4238G>C) c.10621G>C (p.Asp3541His) n.4550G>C c.10750G>C (p.Asp3584His) | |
2 | g.73572624G>T | CA347285244 | ALMS1 | c.10366G>T (p.Asp3456Tyr) c.3452G>T c.7647G>T c.4813G>T (p.Asp1605Tyr) c.7692G>T c.10747G>T (p.Asp3583Tyr) c.901G>T (p.Asp301Tyr) c.2103G>T c.135G>T c.1844G>T c.4238G>T (n.4238G>T) c.10621G>T (p.Asp3541Tyr) n.4550G>T c.10750G>T (p.Asp3584Tyr) | |
2 | g.73572625A>C | CA347285248 | ALMS1 | c.10367A>C (p.Asp3456Ala) c.3453A>C c.7648A>C c.4814A>C (p.Asp1605Ala) c.7693A>C c.10748A>C (p.Asp3583Ala) c.902A>C (p.Asp301Ala) c.2104A>C c.136A>C c.1845A>C c.4239A>C (n.4239A>C) c.10622A>C (p.Asp3541Ala) n.4551A>C c.10751A>C (p.Asp3584Ala) | |
2 | g.73572625A>G | CA347285250 | ALMS1 | c.10367A>G (p.Asp3456Gly) c.3453A>G c.7648A>G c.4814A>G (p.Asp1605Gly) c.7693A>G c.10748A>G (p.Asp3583Gly) c.902A>G (p.Asp301Gly) c.2104A>G c.136A>G c.1845A>G c.4239A>G (n.4239A>G) c.10622A>G (p.Asp3541Gly) n.4551A>G c.10751A>G (p.Asp3584Gly) | |
2 | g.73572625A>T | CA347285252 | ALMS1 | c.10367A>T (p.Asp3456Val) c.3453A>T c.7648A>T c.4814A>T (p.Asp1605Val) c.7693A>T c.10748A>T (p.Asp3583Val) c.902A>T (p.Asp301Val) c.2104A>T c.136A>T c.1845A>T c.4239A>T (n.4239A>T) c.10622A>T (p.Asp3541Val) n.4551A>T c.10751A>T (p.Asp3584Val) | |
2 | g.73572626T>A | CA347285256 | ALMS1 | c.10368T>A (p.Asp3456Glu) c.3454T>A c.7649T>A c.4815T>A (p.Asp1605Glu) c.7694T>A c.10749T>A (p.Asp3583Glu) c.903T>A (p.Asp301Glu) c.2105T>A c.137T>A c.1846T>A c.4240T>A (n.4240T>A) c.10623T>A (p.Asp3541Glu) n.4552T>A c.10752T>A (p.Asp3584Glu) | |
2 | g.73572626T>C | CA427024411 | ALMS1 | c.10368T>C (p.Asp3456=) c.3454T>C c.7649T>C c.4815T>C (p.Asp1605=) c.7694T>C c.10749T>C (p.Asp3583=) c.903T>C (p.Asp301=) c.2105T>C c.137T>C c.1846T>C c.4240T>C (n.4240T>C) c.10623T>C (p.Asp3541=) n.4552T>C c.10752T>C (p.Asp3584=) | |
2 | g.73572626T>G | CA347285258 | ALMS1 | c.10368T>G (p.Asp3456Glu) c.3454T>G c.7649T>G c.4815T>G (p.Asp1605Glu) c.7694T>G c.10749T>G (p.Asp3583Glu) c.903T>G (p.Asp301Glu) c.2105T>G c.137T>G c.1846T>G c.4240T>G (n.4240T>G) c.10623T>G (p.Asp3541Glu) n.4552T>G c.10752T>G (p.Asp3584Glu) | |
2 | g.73572627C>A | CA347285263 | ALMS1 | c.10369C>A (p.Gln3457Lys) c.3455C>A c.7650C>A c.4816C>A (p.Gln1606Lys) c.7695C>A c.10750C>A (p.Gln3584Lys) c.904C>A (p.Gln302Lys) c.2106C>A c.138C>A c.1847C>A c.4241C>A (n.4241C>A) c.10624C>A (p.Gln3542Lys) n.4553C>A c.10753C>A (p.Gln3585Lys) | |
2 | g.73572627C= | CA1261021430 | ALMS1 | c.10369C= (p.Gln3457=) c.3455C= c.7650C= c.4816C= (p.Gln1606=) c.7695C= c.10750C= (p.Gln3584=) c.904C= (p.Gln302=) c.2106C= c.138C= c.1847C= c.4241C= (n.4241C=) c.10624C= (p.Gln3542=) n.4553C= c.10753C= (p.Gln3585=) | |
2 | g.73572627C>G | CA347285264 | ALMS1 | c.10369C>G (p.Gln3457Glu) c.3455C>G c.7650C>G c.4816C>G (p.Gln1606Glu) c.7695C>G c.10750C>G (p.Gln3584Glu) c.904C>G (p.Gln302Glu) c.2106C>G c.138C>G c.1847C>G c.4241C>G (n.4241C>G) c.10624C>G (p.Gln3542Glu) n.4553C>G c.10753C>G (p.Gln3585Glu) | ClinVar gnomAD v4 |
2 | g.73572627C>T | CA1715052 | ALMS1 | c.10369C>T (p.Gln3457Ter) c.3455C>T c.7650C>T c.4816C>T (p.Gln1606Ter) c.7695C>T c.10750C>T (p.Gln3584Ter) c.904C>T (p.Gln302Ter) c.2106C>T c.138C>T c.1847C>T c.4241C>T (n.4241C>T) c.10624C>T (p.Gln3542Ter) n.4553C>T c.10753C>T (p.Gln3585Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572628A= | CA1261021437 | ALMS1 | c.10370A= (p.Gln3457=) c.3456A= c.7651A= c.4817A= (p.Gln1606=) c.7696A= c.10751A= (p.Gln3584=) c.905A= (p.Gln302=) c.2107A= c.139A= c.1848A= c.4242A= (n.4242A=) c.10625A= (p.Gln3542=) n.4554A= c.10754A= (p.Gln3585=) | |
2 | g.73572628A>C | CA347285271 | ALMS1 | c.10370A>C (p.Gln3457Pro) c.3456A>C c.7651A>C c.4817A>C (p.Gln1606Pro) c.7696A>C c.10751A>C (p.Gln3584Pro) c.905A>C (p.Gln302Pro) c.2107A>C c.139A>C c.1848A>C c.4242A>C (n.4242A>C) c.10625A>C (p.Gln3542Pro) n.4554A>C c.10754A>C (p.Gln3585Pro) | |
2 | g.73572628A>G | CA347285269 | ALMS1 | c.10370A>G (p.Gln3457Arg) c.3456A>G c.7651A>G c.4817A>G (p.Gln1606Arg) c.7696A>G c.10751A>G (p.Gln3584Arg) c.905A>G (p.Gln302Arg) c.2107A>G c.139A>G c.1848A>G c.4242A>G (n.4242A>G) c.10625A>G (p.Gln3542Arg) n.4554A>G c.10754A>G (p.Gln3585Arg) | |
2 | g.73572628A>T | CA1715053 | ALMS1 | c.10370A>T (p.Gln3457Leu) c.3456A>T c.7651A>T c.4817A>T (p.Gln1606Leu) c.7696A>T c.10751A>T (p.Gln3584Leu) c.905A>T (p.Gln302Leu) c.2107A>T c.139A>T c.1848A>T c.4242A>T (n.4242A>T) c.10625A>T (p.Gln3542Leu) n.4554A>T c.10754A>T (p.Gln3585Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572630_73572632del | CA2577005218 | ALMS1 | c.10372_10374del (p.Lys3458del) c.3458_3460del c.7653_7655del c.4819_4821del (p.Lys1607del) c.7698_7700del c.10753_10755del (p.Lys3585del) c.907_909del (p.Lys303del) c.2109_2111del c.141_143del c.1850_1852del c.4244_4246del (n.4244_4246del) c.10627_10629del (p.Lys3543del) n.4556_4558del c.10756_10758del (p.Lys3586del) | ClinVar gnomAD v4 |
2 | g.73572629G>A | CA427024420 | ALMS1 | c.10371G>A (p.Gln3457=) c.3457G>A c.7652G>A c.4818G>A (p.Gln1606=) c.7697G>A c.10752G>A (p.Gln3584=) c.906G>A (p.Gln302=) c.2108G>A c.140G>A c.1849G>A c.4243G>A (n.4243G>A) c.10626G>A (p.Gln3542=) n.4555G>A c.10755G>A (p.Gln3585=) | |
2 | g.73572629G>C | CA347285276 | ALMS1 | c.10371G>C (p.Gln3457His) c.3457G>C c.7652G>C c.4818G>C (p.Gln1606His) c.7697G>C c.10752G>C (p.Gln3584His) c.906G>C (p.Gln302His) c.2108G>C c.140G>C c.1849G>C c.4243G>C (n.4243G>C) c.10626G>C (p.Gln3542His) n.4555G>C c.10755G>C (p.Gln3585His) | |
2 | g.73572629G>T | CA347285277 | ALMS1 | c.10371G>T (p.Gln3457His) c.3457G>T c.7652G>T c.4818G>T (p.Gln1606His) c.7697G>T c.10752G>T (p.Gln3584His) c.906G>T (p.Gln302His) c.2108G>T c.140G>T c.1849G>T c.4243G>T (n.4243G>T) c.10626G>T (p.Gln3542His) n.4555G>T c.10755G>T (p.Gln3585His) | |
2 | g.73572630A>C | CA347285279 | ALMS1 | c.10372A>C (p.Lys3458Gln) c.3458A>C c.7653A>C c.4819A>C (p.Lys1607Gln) c.7698A>C c.10753A>C (p.Lys3585Gln) c.907A>C (p.Lys303Gln) c.2109A>C c.141A>C c.1850A>C c.4244A>C (n.4244A>C) c.10627A>C (p.Lys3543Gln) n.4556A>C c.10756A>C (p.Lys3586Gln) | |
2 | g.73572630A>G | CA347285280 | ALMS1 | c.10372A>G (p.Lys3458Glu) c.3458A>G c.7653A>G c.4819A>G (p.Lys1607Glu) c.7698A>G c.10753A>G (p.Lys3585Glu) c.907A>G (p.Lys303Glu) c.2109A>G c.141A>G c.1850A>G c.4244A>G (n.4244A>G) c.10627A>G (p.Lys3543Glu) n.4556A>G c.10756A>G (p.Lys3586Glu) | |
2 | g.73572630A>T | CA347285283 | ALMS1 | c.10372A>T (p.Lys3458Ter) c.3458A>T c.7653A>T c.4819A>T (p.Lys1607Ter) c.7698A>T c.10753A>T (p.Lys3585Ter) c.907A>T (p.Lys303Ter) c.2109A>T c.141A>T c.1850A>T c.4244A>T (n.4244A>T) c.10627A>T (p.Lys3543Ter) n.4556A>T c.10756A>T (p.Lys3586Ter) | |
2 | g.73572631dup | CA2586964947 | ALMS1 | c.10373dup (p.Val3459GlyfsTer15) c.3459dup c.7654dup c.4820dup (p.Val1608GlyfsTer15) c.7699dup c.10754dup (p.Val3586GlyfsTer15) c.908dup (p.Val304GlyfsTer15) c.2110dup c.142dup c.1851dup c.4245dup (n.4245dup) c.10628dup (p.Val3544GlyfsTer15) n.4557dup c.10757dup (p.Val3587GlyfsTer15) | |
2 | g.73572631A= | CA1261021446 | ALMS1 | c.10373A= (p.Lys3458=) c.3459A= c.7654A= c.4820A= (p.Lys1607=) c.7699A= c.10754A= (p.Lys3585=) c.908A= (p.Lys303=) c.2110A= c.142A= c.1851A= c.4245A= (n.4245A=) c.10628A= (p.Lys3543=) n.4557A= c.10757A= (p.Lys3586=) | |
2 | g.73572631A>C | CA347285286 | ALMS1 | c.10373A>C (p.Lys3458Thr) c.3459A>C c.7654A>C c.4820A>C (p.Lys1607Thr) c.7699A>C c.10754A>C (p.Lys3585Thr) c.908A>C (p.Lys303Thr) c.2110A>C c.142A>C c.1851A>C c.4245A>C (n.4245A>C) c.10628A>C (p.Lys3543Thr) n.4557A>C c.10757A>C (p.Lys3586Thr) | |
2 | g.73572631A>G | CA1715054 | ALMS1 | c.10373A>G (p.Lys3458Arg) c.3459A>G c.7654A>G c.4820A>G (p.Lys1607Arg) c.7699A>G c.10754A>G (p.Lys3585Arg) c.908A>G (p.Lys303Arg) c.2110A>G c.142A>G c.1851A>G c.4245A>G (n.4245A>G) c.10628A>G (p.Lys3543Arg) n.4557A>G c.10757A>G (p.Lys3586Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572631A>T | CA347285291 | ALMS1 | c.10373A>T (p.Lys3458Met) c.3459A>T c.7654A>T c.4820A>T (p.Lys1607Met) c.7699A>T c.10754A>T (p.Lys3585Met) c.908A>T (p.Lys303Met) c.2110A>T c.142A>T c.1851A>T c.4245A>T (n.4245A>T) c.10628A>T (p.Lys3543Met) n.4557A>T c.10757A>T (p.Lys3586Met) | |
2 | g.73572632G>A | CA427024423 | ALMS1 | c.10374G>A (p.Lys3458=) c.3460G>A c.7655G>A c.4821G>A (p.Lys1607=) c.7700G>A c.10755G>A (p.Lys3585=) c.909G>A (p.Lys303=) c.2111G>A c.143G>A c.1852G>A c.4246G>A (n.4246G>A) c.10629G>A (p.Lys3543=) n.4558G>A c.10758G>A (p.Lys3586=) | |
2 | g.73572632G>C | CA347285294 | ALMS1 | c.10374G>C (p.Lys3458Asn) c.3460G>C c.7655G>C c.4821G>C (p.Lys1607Asn) c.7700G>C c.10755G>C (p.Lys3585Asn) c.909G>C (p.Lys303Asn) c.2111G>C c.143G>C c.1852G>C c.4246G>C (n.4246G>C) c.10629G>C (p.Lys3543Asn) n.4558G>C c.10758G>C (p.Lys3586Asn) | |
2 | g.73572632G>T | CA347285296 | ALMS1 | c.10374G>T (p.Lys3458Asn) c.3460G>T c.7655G>T c.4821G>T (p.Lys1607Asn) c.7700G>T c.10755G>T (p.Lys3585Asn) c.909G>T (p.Lys303Asn) c.2111G>T c.143G>T c.1852G>T c.4246G>T (n.4246G>T) c.10629G>T (p.Lys3543Asn) n.4558G>T c.10758G>T (p.Lys3586Asn) | |
2 | g.73572633G>A | CA347285299 | ALMS1 | c.10375G>A (p.Val3459Ile) c.3461G>A c.7656G>A c.4822G>A (p.Val1608Ile) c.7701G>A c.10756G>A (p.Val3586Ile) c.910G>A (p.Val304Ile) c.2112G>A c.144G>A c.1853G>A c.4247G>A (n.4247G>A) c.10630G>A (p.Val3544Ile) n.4559G>A c.10759G>A (p.Val3587Ile) | |
2 | g.73572633G>C | CA347285301 | ALMS1 | c.10375G>C (p.Val3459Leu) c.3461G>C c.7656G>C c.4822G>C (p.Val1608Leu) c.7701G>C c.10756G>C (p.Val3586Leu) c.910G>C (p.Val304Leu) c.2112G>C c.144G>C c.1853G>C c.4247G>C (n.4247G>C) c.10630G>C (p.Val3544Leu) n.4559G>C c.10759G>C (p.Val3587Leu) | |
2 | g.73572633G>T | CA347285304 | ALMS1 | c.10375G>T (p.Val3459Phe) c.3461G>T c.7656G>T c.4822G>T (p.Val1608Phe) c.7701G>T c.10756G>T (p.Val3586Phe) c.910G>T (p.Val304Phe) c.2112G>T c.144G>T c.1853G>T c.4247G>T (n.4247G>T) c.10630G>T (p.Val3544Phe) n.4559G>T c.10759G>T (p.Val3587Phe) | gnomAD v4 |
2 | g.73572634T>A | CA347285310 | ALMS1 | c.10376T>A (p.Val3459Asp) c.3462T>A c.7657T>A c.4823T>A (p.Val1608Asp) c.7702T>A c.10757T>A (p.Val3586Asp) c.911T>A (p.Val304Asp) c.2113T>A c.145T>A c.1854T>A c.4248T>A (n.4248T>A) c.10631T>A (p.Val3544Asp) n.4560T>A c.10760T>A (p.Val3587Asp) | |
2 | g.73572634T>C | CA347285308 | ALMS1 | c.10376T>C (p.Val3459Ala) c.3462T>C c.7657T>C c.4823T>C (p.Val1608Ala) c.7702T>C c.10757T>C (p.Val3586Ala) c.911T>C (p.Val304Ala) c.2113T>C c.145T>C c.1854T>C c.4248T>C (n.4248T>C) c.10631T>C (p.Val3544Ala) n.4560T>C c.10760T>C (p.Val3587Ala) | |
2 | g.73572634T>G | CA347285306 | ALMS1 | c.10376T>G (p.Val3459Gly) c.3462T>G c.7657T>G c.4823T>G (p.Val1608Gly) c.7702T>G c.10757T>G (p.Val3586Gly) c.911T>G (p.Val304Gly) c.2113T>G c.145T>G c.1854T>G c.4248T>G (n.4248T>G) c.10631T>G (p.Val3544Gly) n.4560T>G c.10760T>G (p.Val3587Gly) | |
2 | g.73572635C>A | CA427024435 | ALMS1 | c.10377C>A (p.Val3459=) c.3463C>A c.7658C>A c.4824C>A (p.Val1608=) c.7703C>A c.10758C>A (p.Val3586=) c.912C>A (p.Val304=) c.2114C>A c.146C>A c.1855C>A c.4249C>A (n.4249C>A) c.10632C>A (p.Val3544=) n.4561C>A c.10761C>A (p.Val3587=) | |
2 | g.73572635C>G | CA427024436 | ALMS1 | c.10377C>G (p.Val3459=) c.3463C>G c.7658C>G c.4824C>G (p.Val1608=) c.7703C>G c.10758C>G (p.Val3586=) c.912C>G (p.Val304=) c.2114C>G c.146C>G c.1855C>G c.4249C>G (n.4249C>G) c.10632C>G (p.Val3544=) n.4561C>G c.10761C>G (p.Val3587=) | |
2 | g.73572635C>T | CA427024437 | ALMS1 | c.10377C>T (p.Val3459=) c.3463C>T c.7658C>T c.4824C>T (p.Val1608=) c.7703C>T c.10758C>T (p.Val3586=) c.912C>T (p.Val304=) c.2114C>T c.146C>T c.1855C>T c.4249C>T (n.4249C>T) c.10632C>T (p.Val3544=) n.4561C>T c.10761C>T (p.Val3587=) | |
2 | g.73572636A>C | CA347285313 | ALMS1 | c.10378A>C (p.Thr3460Pro) c.3464A>C c.7659A>C c.4825A>C (p.Thr1609Pro) c.7704A>C c.10759A>C (p.Thr3587Pro) c.913A>C (p.Thr305Pro) c.2115A>C c.147A>C c.1856A>C c.4250A>C (n.4250A>C) c.10633A>C (p.Thr3545Pro) n.4562A>C c.10762A>C (p.Thr3588Pro) | |
2 | g.73572636A>G | CA347285316 | ALMS1 | c.10378A>G (p.Thr3460Ala) c.3464A>G c.7659A>G c.4825A>G (p.Thr1609Ala) c.7704A>G c.10759A>G (p.Thr3587Ala) c.913A>G (p.Thr305Ala) c.2115A>G c.147A>G c.1856A>G c.4250A>G (n.4250A>G) c.10633A>G (p.Thr3545Ala) n.4562A>G c.10762A>G (p.Thr3588Ala) | ClinVar gnomAD v4 |
2 | g.73572636A>T | CA347285318 | ALMS1 | c.10378A>T (p.Thr3460Ser) c.3464A>T c.7659A>T c.4825A>T (p.Thr1609Ser) c.7704A>T c.10759A>T (p.Thr3587Ser) c.913A>T (p.Thr305Ser) c.2115A>T c.147A>T c.1856A>T c.4250A>T (n.4250A>T) c.10633A>T (p.Thr3545Ser) n.4562A>T c.10762A>T (p.Thr3588Ser) | |
2 | g.73572637C>A | CA347285321 | ALMS1 | c.10379C>A (p.Thr3460Asn) c.3465C>A c.7660C>A c.4826C>A (p.Thr1609Asn) c.7705C>A c.10760C>A (p.Thr3587Asn) c.914C>A (p.Thr305Asn) c.2116C>A c.148C>A c.1857C>A c.4251C>A (n.4251C>A) c.10634C>A (p.Thr3545Asn) n.4563C>A c.10763C>A (p.Thr3588Asn) | gnomAD v4 |
2 | g.73572637C>G | CA347285323 | ALMS1 | c.10379C>G (p.Thr3460Ser) c.3465C>G c.7660C>G c.4826C>G (p.Thr1609Ser) c.7705C>G c.10760C>G (p.Thr3587Ser) c.914C>G (p.Thr305Ser) c.2116C>G c.148C>G c.1857C>G c.4251C>G (n.4251C>G) c.10634C>G (p.Thr3545Ser) n.4563C>G c.10763C>G (p.Thr3588Ser) | |
2 | g.73572637C>T | CA347285324 | ALMS1 | c.10379C>T (p.Thr3460Ile) c.3465C>T c.7660C>T c.4826C>T (p.Thr1609Ile) c.7705C>T c.10760C>T (p.Thr3587Ile) c.914C>T (p.Thr305Ile) c.2116C>T c.148C>T c.1857C>T c.4251C>T (n.4251C>T) c.10634C>T (p.Thr3545Ile) n.4563C>T c.10763C>T (p.Thr3588Ile) |