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.73572496_73572499del | CA2499216271 | ALMS1 | c.10238_10241del (p.Thr3413IlefsTer5) c.3324_3327del c.7519_7522del c.4685_4688del (p.Thr1562IlefsTer5) c.7564_7567del c.10619_10622del (p.Thr3540IlefsTer5) c.773_776del (p.Thr258IlefsTer5) c.1975_1978del c.7_10del c.1716_1719del c.4110_4113del (n.4110_4113del) c.10493_10496del (p.Thr3498IlefsTer5) n.4422_4425del c.10622_10625del (p.Thr3541IlefsTer5) | ClinVar dbSNP gnomAD v4 |
2 | g.73572494G>A | CA427024015 | ALMS1 | c.10236G>A (p.Lys3412=) c.3322G>A c.7517G>A c.4683G>A (p.Lys1561=) c.7562G>A c.10617G>A (p.Lys3539=) c.771G>A (p.Lys257=) c.1973G>A c.5G>A c.1714G>A c.4108G>A (n.4108G>A) c.10491G>A (p.Lys3497=) n.4420G>A c.10620G>A (p.Lys3540=) | |
2 | g.73572494G>C | CA347284201 | ALMS1 | c.10236G>C (p.Lys3412Asn) c.3322G>C c.7517G>C c.4683G>C (p.Lys1561Asn) c.7562G>C c.10617G>C (p.Lys3539Asn) c.771G>C (p.Lys257Asn) c.1973G>C c.5G>C c.1714G>C c.4108G>C (n.4108G>C) c.10491G>C (p.Lys3497Asn) n.4420G>C c.10620G>C (p.Lys3540Asn) | |
2 | g.73572494G>T | CA347284207 | ALMS1 | c.10236G>T (p.Lys3412Asn) c.3322G>T c.7517G>T c.4683G>T (p.Lys1561Asn) c.7562G>T c.10617G>T (p.Lys3539Asn) c.771G>T (p.Lys257Asn) c.1973G>T c.5G>T c.1714G>T c.4108G>T (n.4108G>T) c.10491G>T (p.Lys3497Asn) n.4420G>T c.10620G>T (p.Lys3540Asn) | |
2 | g.73572495A>C | CA347284211 | ALMS1 | c.10237A>C (p.Thr3413Pro) c.3323A>C c.7518A>C c.4684A>C (p.Thr1562Pro) c.7563A>C c.10618A>C (p.Thr3540Pro) c.772A>C (p.Thr258Pro) c.1974A>C c.6A>C c.1715A>C c.4109A>C (n.4109A>C) c.10492A>C (p.Thr3498Pro) n.4421A>C c.10621A>C (p.Thr3541Pro) | |
2 | g.73572495A>G | CA347284213 | ALMS1 | c.10237A>G (p.Thr3413Ala) c.3323A>G c.7518A>G c.4684A>G (p.Thr1562Ala) c.7563A>G c.10618A>G (p.Thr3540Ala) c.772A>G (p.Thr258Ala) c.1974A>G c.6A>G c.1715A>G c.4109A>G (n.4109A>G) c.10492A>G (p.Thr3498Ala) n.4421A>G c.10621A>G (p.Thr3541Ala) | gnomAD v4 |
2 | g.73572495A>T | CA347284217 | ALMS1 | c.10237A>T (p.Thr3413Ser) c.3323A>T c.7518A>T c.4684A>T (p.Thr1562Ser) c.7563A>T c.10618A>T (p.Thr3540Ser) c.772A>T (p.Thr258Ser) c.1974A>T c.6A>T c.1715A>T c.4109A>T (n.4109A>T) c.10492A>T (p.Thr3498Ser) n.4421A>T c.10621A>T (p.Thr3541Ser) | |
2 | g.73572495_73572496insACC | CA2750467769 | ALMS1 | c.10237_10238insACC (p.Thr3413delinsAsnPro) c.3323_3324insACC c.7518_7519insACC c.4684_4685insACC (p.Thr1562delinsAsnPro) c.7563_7564insACC c.10618_10619insACC (p.Thr3540delinsAsnPro) c.772_773insACC (p.Thr258delinsAsnPro) c.1974_1975insACC c.6_7insACC c.1715_1716insACC c.4109_4110insACC (n.4109_4110insACC) c.10492_10493insACC (p.Thr3498delinsAsnPro) n.4421_4422insACC c.10621_10622insACC (p.Thr3541delinsAsnPro) | |
2 | g.73572496C>A | CA347284220 | ALMS1 | c.10238C>A (p.Thr3413Lys) c.3324C>A c.7519C>A c.4685C>A (p.Thr1562Lys) c.7564C>A c.10619C>A (p.Thr3540Lys) c.773C>A (p.Thr258Lys) c.1975C>A c.7C>A c.1716C>A c.4110C>A (n.4110C>A) c.10493C>A (p.Thr3498Lys) n.4422C>A c.10622C>A (p.Thr3541Lys) | |
2 | g.73572496C>G | CA347284221 | ALMS1 | c.10238C>G (p.Thr3413Arg) c.3324C>G c.7519C>G c.4685C>G (p.Thr1562Arg) c.7564C>G c.10619C>G (p.Thr3540Arg) c.773C>G (p.Thr258Arg) c.1975C>G c.7C>G c.1716C>G c.4110C>G (n.4110C>G) c.10493C>G (p.Thr3498Arg) n.4422C>G c.10622C>G (p.Thr3541Arg) | |
2 | g.73572496C>T | CA347284223 | ALMS1 | c.10238C>T (p.Thr3413Ile) c.3324C>T c.7519C>T c.4685C>T (p.Thr1562Ile) c.7564C>T c.10619C>T (p.Thr3540Ile) c.773C>T (p.Thr258Ile) c.1975C>T c.7C>T c.1716C>T c.4110C>T (n.4110C>T) c.10493C>T (p.Thr3498Ile) n.4422C>T c.10622C>T (p.Thr3541Ile) | |
2 | g.73572497A>C | CA427024029 | ALMS1 | c.10239A>C (p.Thr3413=) c.3325A>C c.7520A>C c.4686A>C (p.Thr1562=) c.7565A>C c.10620A>C (p.Thr3540=) c.774A>C (p.Thr258=) c.1976A>C c.8A>C c.1717A>C c.4111A>C (n.4111A>C) c.10494A>C (p.Thr3498=) n.4423A>C c.10623A>C (p.Thr3541=) | |
2 | g.73572497A>G | CA427024026 | ALMS1 | c.10239A>G (p.Thr3413=) c.3325A>G c.7520A>G c.4686A>G (p.Thr1562=) c.7565A>G c.10620A>G (p.Thr3540=) c.774A>G (p.Thr258=) c.1976A>G c.8A>G c.1717A>G c.4111A>G (n.4111A>G) c.10494A>G (p.Thr3498=) n.4423A>G c.10623A>G (p.Thr3541=) | ClinVar dbSNP |
2 | g.73572497A>T | CA427024027 | ALMS1 | c.10239A>T (p.Thr3413=) c.3325A>T c.7520A>T c.4686A>T (p.Thr1562=) c.7565A>T c.10620A>T (p.Thr3540=) c.774A>T (p.Thr258=) c.1976A>T c.8A>T c.1717A>T c.4111A>T (n.4111A>T) c.10494A>T (p.Thr3498=) n.4423A>T c.10623A>T (p.Thr3541=) | |
2 | g.73572498G>A | CA347284235 | ALMS1 | c.10240G>A (p.Asp3414Asn) c.3326G>A c.7521G>A c.4687G>A (p.Asp1563Asn) c.7566G>A c.10621G>A (p.Asp3541Asn) c.775G>A (p.Asp259Asn) c.1977G>A c.9G>A c.1718G>A c.4112G>A (n.4112G>A) c.10495G>A (p.Asp3499Asn) n.4424G>A c.10624G>A (p.Asp3542Asn) | ClinVar dbSNP |
2 | g.73572498G>C | CA347284232 | ALMS1 | c.10240G>C (p.Asp3414His) c.3326G>C c.7521G>C c.4687G>C (p.Asp1563His) c.7566G>C c.10621G>C (p.Asp3541His) c.775G>C (p.Asp259His) c.1977G>C c.9G>C c.1718G>C c.4112G>C (n.4112G>C) c.10495G>C (p.Asp3499His) n.4424G>C c.10624G>C (p.Asp3542His) | |
2 | g.73572498G= | CA1261021237 | ALMS1 | c.10240G= (p.Asp3414=) c.3326G= c.7521G= c.4687G= (p.Asp1563=) c.7566G= c.10621G= (p.Asp3541=) c.775G= (p.Asp259=) c.1977G= c.9G= c.1718G= c.4112G= (n.4112G=) c.10495G= (p.Asp3499=) n.4424G= c.10624G= (p.Asp3542=) | |
2 | g.73572498G>T | CA347284229 | ALMS1 | c.10240G>T (p.Asp3414Tyr) c.3326G>T c.7521G>T c.4687G>T (p.Asp1563Tyr) c.7566G>T c.10621G>T (p.Asp3541Tyr) c.775G>T (p.Asp259Tyr) c.1977G>T c.9G>T c.1718G>T c.4112G>T (n.4112G>T) c.10495G>T (p.Asp3499Tyr) n.4424G>T c.10624G>T (p.Asp3542Tyr) | |
2 | g.73572499A= | CA1261021238 | ALMS1 | c.10241A= (p.Asp3414=) c.3327A= c.7522A= c.4688A= (p.Asp1563=) c.7567A= c.10622A= (p.Asp3541=) c.776A= (p.Asp259=) c.1978A= c.10A= c.1719A= c.4113A= (n.4113A=) c.10496A= (p.Asp3499=) n.4425A= c.10625A= (p.Asp3542=) | |
2 | g.73572499A>C | CA347284239 | ALMS1 | c.10241A>C (p.Asp3414Ala) c.3327A>C c.7522A>C c.4688A>C (p.Asp1563Ala) c.7567A>C c.10622A>C (p.Asp3541Ala) c.776A>C (p.Asp259Ala) c.1978A>C c.10A>C c.1719A>C c.4113A>C (n.4113A>C) c.10496A>C (p.Asp3499Ala) n.4425A>C c.10625A>C (p.Asp3542Ala) | |
2 | g.73572499A>G | CA347284244 | ALMS1 | c.10241A>G (p.Asp3414Gly) c.3327A>G c.7522A>G c.4688A>G (p.Asp1563Gly) c.7567A>G c.10622A>G (p.Asp3541Gly) c.776A>G (p.Asp259Gly) c.1978A>G c.10A>G c.1719A>G c.4113A>G (n.4113A>G) c.10496A>G (p.Asp3499Gly) n.4425A>G c.10625A>G (p.Asp3542Gly) | |
2 | g.73572499A>T | CA347284243 | ALMS1 | c.10241A>T (p.Asp3414Val) c.3327A>T c.7522A>T c.4688A>T (p.Asp1563Val) c.7567A>T c.10622A>T (p.Asp3541Val) c.776A>T (p.Asp259Val) c.1978A>T c.10A>T c.1719A>T c.4113A>T (n.4113A>T) c.10496A>T (p.Asp3499Val) n.4425A>T c.10625A>T (p.Asp3542Val) | |
2 | g.73572499_73572500insACGGG | CA534123606 | ALMS1 | c.10241_10242insACGGG (p.Asp3414GlufsTer7) c.3327_3328insACGGG c.7522_7523insACGGG c.4688_4689insACGGG (p.Asp1563GlufsTer7) c.7567_7568insACGGG c.10622_10623insACGGG (p.Asp3541GlufsTer7) c.776_777insACGGG (p.Asp259GlufsTer7) c.1978_1979insACGGG c.10_11insACGGG c.1719_1720insACGGG c.4113_4114insACGGG (n.4113_4114insACGGG) c.10496_10497insACGGG (p.Asp3499GlufsTer7) n.4425_4426insACGGG c.10625_10626insACGGG (p.Asp3542GlufsTer7) | dbSNP gnomAD v2 |
2 | g.73572499_73572500insACGGGTAGTAT | CA2533181878 | ALMS1 | c.10241_10242insACGGGTAGTAT (p.Asp3414GlufsTer9) c.3327_3328insACGGGTAGTAT c.7522_7523insACGGGTAGTAT c.4688_4689insACGGGTAGTAT (p.Asp1563GlufsTer9) c.7567_7568insACGGGTAGTAT c.10622_10623insACGGGTAGTAT (p.Asp3541GlufsTer9) c.776_777insACGGGTAGTAT (p.Asp259GlufsTer9) c.1978_1979insACGGGTAGTAT c.10_11insACGGGTAGTAT c.1719_1720insACGGGTAGTAT c.4113_4114insACGGGTAGTAT (n.4113_4114insACGGGTAGTAT) c.10496_10497insACGGGTAGTAT (p.Asp3499GlufsTer9) n.4425_4426insACGGGTAGTAT c.10625_10626insACGGGTAGTAT (p.Asp3542GlufsTer9) | |
2 | g.73572499_73572500insACGGGTAGTATT | CA1261021239 | ALMS1 | c.10241_10242insACGGGTAGTATT (p.Asp3414delinsGluArgValValPhe) c.3327_3328insACGGGTAGTATT c.7522_7523insACGGGTAGTATT c.4688_4689insACGGGTAGTATT (p.Asp1563delinsGluArgValValPhe) c.7567_7568insACGGGTAGTATT c.10622_10623insACGGGTAGTATT (p.Asp3541delinsGluArgValValPhe) c.776_777insACGGGTAGTATT (p.Asp259delinsGluArgValValPhe) c.1978_1979insACGGGTAGTATT c.10_11insACGGGTAGTATT c.1719_1720insACGGGTAGTATT c.4113_4114insACGGGTAGTATT (n.4113_4114insACGGGTAGTATT) c.10496_10497insACGGGTAGTATT (p.Asp3499delinsGluArgValValPhe) n.4425_4426insACGGGTAGTATT c.10625_10626insACGGGTAGTATT (p.Asp3542delinsGluArgValValPhe) | dbSNP |
2 | g.73572500T>A | CA347284249 | ALMS1 | c.10242T>A (p.Asp3414Glu) c.3328T>A c.7523T>A c.4689T>A (p.Asp1563Glu) c.7568T>A c.10623T>A (p.Asp3541Glu) c.777T>A (p.Asp259Glu) c.1979T>A c.11T>A c.1720T>A c.4114T>A (n.4114T>A) c.10497T>A (p.Asp3499Glu) n.4426T>A c.10626T>A (p.Asp3542Glu) | |
2 | g.73572500T>C | CA427024033 | ALMS1 | c.10242T>C (p.Asp3414=) c.3328T>C c.7523T>C c.4689T>C (p.Asp1563=) c.7568T>C c.10623T>C (p.Asp3541=) c.777T>C (p.Asp259=) c.1979T>C c.11T>C c.1720T>C c.4114T>C (n.4114T>C) c.10497T>C (p.Asp3499=) n.4426T>C c.10626T>C (p.Asp3542=) | |
2 | g.73572500T>G | CA347284253 | ALMS1 | c.10242T>G (p.Asp3414Glu) c.3328T>G c.7523T>G c.4689T>G (p.Asp1563Glu) c.7568T>G c.10623T>G (p.Asp3541Glu) c.777T>G (p.Asp259Glu) c.1979T>G c.11T>G c.1720T>G c.4114T>G (n.4114T>G) c.10497T>G (p.Asp3499Glu) n.4426T>G c.10626T>G (p.Asp3542Glu) | |
2 | g.73572501T>A | CA347284258 | ALMS1 | c.10243T>A (p.Tyr3415Asn) c.3329T>A c.7524T>A c.4690T>A (p.Tyr1564Asn) c.7569T>A c.10624T>A (p.Tyr3542Asn) c.778T>A (p.Tyr260Asn) c.1980T>A c.12T>A c.1721T>A c.4115T>A (n.4115T>A) c.10498T>A (p.Tyr3500Asn) n.4427T>A c.10627T>A (p.Tyr3543Asn) | |
2 | g.73572501T>C | CA347284261 | ALMS1 | c.10243T>C (p.Tyr3415His) c.3329T>C c.7524T>C c.4690T>C (p.Tyr1564His) c.7569T>C c.10624T>C (p.Tyr3542His) c.778T>C (p.Tyr260His) c.1980T>C c.12T>C c.1721T>C c.4115T>C (n.4115T>C) c.10498T>C (p.Tyr3500His) n.4427T>C c.10627T>C (p.Tyr3543His) | |
2 | g.73572501T>G | CA347284264 | ALMS1 | c.10243T>G (p.Tyr3415Asp) c.3329T>G c.7524T>G c.4690T>G (p.Tyr1564Asp) c.7569T>G c.10624T>G (p.Tyr3542Asp) c.778T>G (p.Tyr260Asp) c.1980T>G c.12T>G c.1721T>G c.4115T>G (n.4115T>G) c.10498T>G (p.Tyr3500Asp) n.4427T>G c.10627T>G (p.Tyr3543Asp) | gnomAD v4 |
2 | g.73572502A= | CA1261021240 | ALMS1 | c.10244A= (p.Tyr3415=) c.3330A= c.7525A= c.4691A= (p.Tyr1564=) c.7570A= c.10625A= (p.Tyr3542=) c.779A= (p.Tyr260=) c.1981A= c.13A= c.1722A= c.4116A= (n.4116A=) c.10499A= (p.Tyr3500=) n.4428A= c.10628A= (p.Tyr3543=) | |
2 | g.73572502A>C | CA347284268 | ALMS1 | c.10244A>C (p.Tyr3415Ser) c.3330A>C c.7525A>C c.4691A>C (p.Tyr1564Ser) c.7570A>C c.10625A>C (p.Tyr3542Ser) c.779A>C (p.Tyr260Ser) c.1981A>C c.13A>C c.1722A>C c.4116A>C (n.4116A>C) c.10499A>C (p.Tyr3500Ser) n.4428A>C c.10628A>C (p.Tyr3543Ser) | |
2 | g.73572502A>G | CA1715036 | ALMS1 | c.10244A>G (p.Tyr3415Cys) c.3330A>G c.7525A>G c.4691A>G (p.Tyr1564Cys) c.7570A>G c.10625A>G (p.Tyr3542Cys) c.779A>G (p.Tyr260Cys) c.1981A>G c.13A>G c.1722A>G c.4116A>G (n.4116A>G) c.10499A>G (p.Tyr3500Cys) n.4428A>G c.10628A>G (p.Tyr3543Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572502A>T | CA347284273 | ALMS1 | c.10244A>T (p.Tyr3415Phe) c.3330A>T c.7525A>T c.4691A>T (p.Tyr1564Phe) c.7570A>T c.10625A>T (p.Tyr3542Phe) c.779A>T (p.Tyr260Phe) c.1981A>T c.13A>T c.1722A>T c.4116A>T (n.4116A>T) c.10499A>T (p.Tyr3500Phe) n.4428A>T c.10628A>T (p.Tyr3543Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572503T>A | CA347284278 | ALMS1 | c.10245T>A (p.Tyr3415Ter) c.3331T>A c.7526T>A c.4692T>A (p.Tyr1564Ter) c.7571T>A c.10626T>A (p.Tyr3542Ter) c.780T>A (p.Tyr260Ter) c.1982T>A c.14T>A c.1723T>A c.4117T>A (n.4117T>A) c.10500T>A (p.Tyr3500Ter) n.4429T>A c.10629T>A (p.Tyr3543Ter) | |
2 | g.73572503T>C | CA427024040 | ALMS1 | c.10245T>C (p.Tyr3415=) c.3331T>C c.7526T>C c.4692T>C (p.Tyr1564=) c.7571T>C c.10626T>C (p.Tyr3542=) c.780T>C (p.Tyr260=) c.1982T>C c.14T>C c.1723T>C c.4117T>C (n.4117T>C) c.10500T>C (p.Tyr3500=) n.4429T>C c.10629T>C (p.Tyr3543=) | |
2 | g.73572503T>G | CA347284281 | ALMS1 | c.10245T>G (p.Tyr3415Ter) c.3331T>G c.7526T>G c.4692T>G (p.Tyr1564Ter) c.7571T>G c.10626T>G (p.Tyr3542Ter) c.780T>G (p.Tyr260Ter) c.1982T>G c.14T>G c.1723T>G c.4117T>G (n.4117T>G) c.10500T>G (p.Tyr3500Ter) n.4429T>G c.10629T>G (p.Tyr3543Ter) | |
2 | g.73572504A>C | CA347284285 | ALMS1 | c.10246A>C (p.Thr3416Pro) c.3332A>C c.7527A>C c.4693A>C (p.Thr1565Pro) c.7572A>C c.10627A>C (p.Thr3543Pro) c.781A>C (p.Thr261Pro) c.1983A>C c.15A>C c.1724A>C c.4118A>C (n.4118A>C) c.10501A>C (p.Thr3501Pro) n.4430A>C c.10630A>C (p.Thr3544Pro) | |
2 | g.73572504A>G | CA347284287 | ALMS1 | c.10246A>G (p.Thr3416Ala) c.3332A>G c.7527A>G c.4693A>G (p.Thr1565Ala) c.7572A>G c.10627A>G (p.Thr3543Ala) c.781A>G (p.Thr261Ala) c.1983A>G c.15A>G c.1724A>G c.4118A>G (n.4118A>G) c.10501A>G (p.Thr3501Ala) n.4430A>G c.10630A>G (p.Thr3544Ala) | gnomAD v4 |
2 | g.73572504A>T | CA347284290 | ALMS1 | c.10246A>T (p.Thr3416Ser) c.3332A>T c.7527A>T c.4693A>T (p.Thr1565Ser) c.7572A>T c.10627A>T (p.Thr3543Ser) c.781A>T (p.Thr261Ser) c.1983A>T c.15A>T c.1724A>T c.4118A>T (n.4118A>T) c.10501A>T (p.Thr3501Ser) n.4430A>T c.10630A>T (p.Thr3544Ser) | |
2 | g.73572505C>A | CA347284293 | ALMS1 | c.10247C>A (p.Thr3416Asn) c.3333C>A c.7528C>A c.4694C>A (p.Thr1565Asn) c.7573C>A c.10628C>A (p.Thr3543Asn) c.782C>A (p.Thr261Asn) c.1984C>A c.16C>A c.1725C>A c.4119C>A (n.4119C>A) c.10502C>A (p.Thr3501Asn) n.4431C>A c.10631C>A (p.Thr3544Asn) | |
2 | g.73572505C= | CA1261021241 | ALMS1 | c.10247C= (p.Thr3416=) c.3333C= c.7528C= c.4694C= (p.Thr1565=) c.7573C= c.10628C= (p.Thr3543=) c.782C= (p.Thr261=) c.1984C= c.16C= c.1725C= c.4119C= (n.4119C=) c.10502C= (p.Thr3501=) n.4431C= c.10631C= (p.Thr3544=) | |
2 | g.73572505C>G | CA349169 | ALMS1 | c.10247C>G (p.Thr3416Ser) c.3333C>G c.7528C>G c.4694C>G (p.Thr1565Ser) c.7573C>G c.10628C>G (p.Thr3543Ser) c.782C>G (p.Thr261Ser) c.1984C>G c.16C>G c.1725C>G c.4119C>G (n.4119C>G) c.10502C>G (p.Thr3501Ser) n.4431C>G c.10631C>G (p.Thr3544Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572505C>T | CA347284297 | ALMS1 | c.10247C>T (p.Thr3416Ile) c.3333C>T c.7528C>T c.4694C>T (p.Thr1565Ile) c.7573C>T c.10628C>T (p.Thr3543Ile) c.782C>T (p.Thr261Ile) c.1984C>T c.16C>T c.1725C>T c.4119C>T (n.4119C>T) c.10502C>T (p.Thr3501Ile) n.4431C>T c.10631C>T (p.Thr3544Ile) | |
2 | g.73572506C>A | CA427024046 | ALMS1 | c.10248C>A (p.Thr3416=) c.3334C>A c.7529C>A c.4695C>A (p.Thr1565=) c.7574C>A c.10629C>A (p.Thr3543=) c.783C>A (p.Thr261=) c.1985C>A c.17C>A c.1726C>A c.4120C>A (n.4120C>A) c.10503C>A (p.Thr3501=) n.4432C>A c.10632C>A (p.Thr3544=) | |
2 | g.73572506C= | CA1261021242 | ALMS1 | c.10248C= (p.Thr3416=) c.3334C= c.7529C= c.4695C= (p.Thr1565=) c.7574C= c.10629C= (p.Thr3543=) c.783C= (p.Thr261=) c.1985C= c.17C= c.1726C= c.4120C= (n.4120C=) c.10503C= (p.Thr3501=) n.4432C= c.10632C= (p.Thr3544=) | |
2 | g.73572506C>G | CA427024047 | ALMS1 | c.10248C>G (p.Thr3416=) c.3334C>G c.7529C>G c.4695C>G (p.Thr1565=) c.7574C>G c.10629C>G (p.Thr3543=) c.783C>G (p.Thr261=) c.1985C>G c.17C>G c.1726C>G c.4120C>G (n.4120C>G) c.10503C>G (p.Thr3501=) n.4432C>G c.10632C>G (p.Thr3544=) | ClinVar dbSNP gnomAD v4 |
2 | g.73572506C>T | CA427024048 | ALMS1 | c.10248C>T (p.Thr3416=) c.3334C>T c.7529C>T c.4695C>T (p.Thr1565=) c.7574C>T c.10629C>T (p.Thr3543=) c.783C>T (p.Thr261=) c.1985C>T c.17C>T c.1726C>T c.4120C>T (n.4120C>T) c.10503C>T (p.Thr3501=) n.4432C>T c.10632C>T (p.Thr3544=) | gnomAD v4 |
2 | g.73572507A= | CA1261021243 | ALMS1 | c.10249A= (p.Arg3417=) c.3335A= c.7530A= c.4696A= (p.Arg1566=) c.7575A= c.10630A= (p.Arg3544=) c.784A= (p.Arg262=) c.1986A= c.18A= c.1727A= c.4121A= (n.4121A=) c.10504A= (p.Arg3502=) n.4433A= c.10633A= (p.Arg3545=) | |
2 | g.73572507A>C | CA427024051 | ALMS1 | c.10249A>C (p.Arg3417=) c.3335A>C c.7530A>C c.4696A>C (p.Arg1566=) c.7575A>C c.10630A>C (p.Arg3544=) c.784A>C (p.Arg262=) c.1986A>C c.18A>C c.1727A>C c.4121A>C (n.4121A>C) c.10504A>C (p.Arg3502=) n.4433A>C c.10633A>C (p.Arg3545=) | |
2 | g.73572507A>G | CA1715037 | ALMS1 | c.10249A>G (p.Arg3417Gly) c.3335A>G c.7530A>G c.4696A>G (p.Arg1566Gly) c.7575A>G c.10630A>G (p.Arg3544Gly) c.784A>G (p.Arg262Gly) c.1986A>G c.18A>G c.1727A>G c.4121A>G (n.4121A>G) c.10504A>G (p.Arg3502Gly) n.4433A>G c.10633A>G (p.Arg3545Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572507A>T | CA347284304 | ALMS1 | c.10249A>T (p.Arg3417Ter) c.3335A>T c.7530A>T c.4696A>T (p.Arg1566Ter) c.7575A>T c.10630A>T (p.Arg3544Ter) c.784A>T (p.Arg262Ter) c.1986A>T c.18A>T c.1727A>T c.4121A>T (n.4121A>T) c.10504A>T (p.Arg3502Ter) n.4433A>T c.10633A>T (p.Arg3545Ter) | |
2 | g.73572508G>A | CA347284309 | ALMS1 | c.10250G>A (p.Arg3417Lys) c.3336G>A c.7531G>A c.4697G>A (p.Arg1566Lys) c.7576G>A c.10631G>A (p.Arg3544Lys) c.785G>A (p.Arg262Lys) c.1987G>A c.19G>A c.1728G>A c.4122G>A (n.4122G>A) c.10505G>A (p.Arg3502Lys) n.4434G>A c.10634G>A (p.Arg3545Lys) | |
2 | g.73572508G>C | CA347284311 | ALMS1 | c.10250G>C (p.Arg3417Thr) c.3336G>C c.7531G>C c.4697G>C (p.Arg1566Thr) c.7576G>C c.10631G>C (p.Arg3544Thr) c.785G>C (p.Arg262Thr) c.1987G>C c.19G>C c.1728G>C c.4122G>C (n.4122G>C) c.10505G>C (p.Arg3502Thr) n.4434G>C c.10634G>C (p.Arg3545Thr) | |
2 | g.73572508G>T | CA347284322 | ALMS1 | c.10250G>T (p.Arg3417Ile) c.3336G>T c.7531G>T c.4697G>T (p.Arg1566Ile) c.7576G>T c.10631G>T (p.Arg3544Ile) c.785G>T (p.Arg262Ile) c.1987G>T c.19G>T c.1728G>T c.4122G>T (n.4122G>T) c.10505G>T (p.Arg3502Ile) n.4434G>T c.10634G>T (p.Arg3545Ile) | |
2 | g.73572509A>C | CA347284324 | ALMS1 | c.10251A>C (p.Arg3417Ser) c.3337A>C c.7532A>C c.4698A>C (p.Arg1566Ser) c.7577A>C c.10632A>C (p.Arg3544Ser) c.786A>C (p.Arg262Ser) c.1988A>C c.20A>C c.1729A>C c.4123A>C (n.4123A>C) c.10506A>C (p.Arg3502Ser) n.4435A>C c.10635A>C (p.Arg3545Ser) | |
2 | g.73572509A>G | CA427024056 | ALMS1 | c.10251A>G (p.Arg3417=) c.3337A>G c.7532A>G c.4698A>G (p.Arg1566=) c.7577A>G c.10632A>G (p.Arg3544=) c.786A>G (p.Arg262=) c.1988A>G c.20A>G c.1729A>G c.4123A>G (n.4123A>G) c.10506A>G (p.Arg3502=) n.4435A>G c.10635A>G (p.Arg3545=) | ClinVar |
2 | g.73572509A>T | CA347284326 | ALMS1 | c.10251A>T (p.Arg3417Ser) c.3337A>T c.7532A>T c.4698A>T (p.Arg1566Ser) c.7577A>T c.10632A>T (p.Arg3544Ser) c.786A>T (p.Arg262Ser) c.1988A>T c.20A>T c.1729A>T c.4123A>T (n.4123A>T) c.10506A>T (p.Arg3502Ser) n.4435A>T c.10635A>T (p.Arg3545Ser) | |
2 | g.73572510A>C | CA347284329 | ALMS1 | c.10252A>C (p.Ile3418Leu) c.3338A>C c.7533A>C c.4699A>C (p.Ile1567Leu) c.7578A>C c.10633A>C (p.Ile3545Leu) c.787A>C (p.Ile263Leu) c.1989A>C c.21A>C c.1730A>C c.4124A>C (n.4124A>C) c.10507A>C (p.Ile3503Leu) n.4436A>C c.10636A>C (p.Ile3546Leu) | |
2 | g.73572510A>G | CA347284332 | ALMS1 | c.10252A>G (p.Ile3418Val) c.3338A>G c.7533A>G c.4699A>G (p.Ile1567Val) c.7578A>G c.10633A>G (p.Ile3545Val) c.787A>G (p.Ile263Val) c.1989A>G c.21A>G c.1730A>G c.4124A>G (n.4124A>G) c.10507A>G (p.Ile3503Val) n.4436A>G c.10636A>G (p.Ile3546Val) | |
2 | g.73572510A>T | CA347284336 | ALMS1 | c.10252A>T (p.Ile3418Leu) c.3338A>T c.7533A>T c.4699A>T (p.Ile1567Leu) c.7578A>T c.10633A>T (p.Ile3545Leu) c.787A>T (p.Ile263Leu) c.1989A>T c.21A>T c.1730A>T c.4124A>T (n.4124A>T) c.10507A>T (p.Ile3503Leu) n.4436A>T c.10636A>T (p.Ile3546Leu) | |
2 | g.73572511T>A | CA347284358 | ALMS1 | c.10253T>A (p.Ile3418Lys) c.3339T>A c.7534T>A c.4700T>A (p.Ile1567Lys) c.7579T>A c.10634T>A (p.Ile3545Lys) c.788T>A (p.Ile263Lys) c.1990T>A c.22T>A c.1731T>A c.4125T>A (n.4125T>A) c.10508T>A (p.Ile3503Lys) n.4437T>A c.10637T>A (p.Ile3546Lys) | |
2 | g.73572511T>C | CA347284354 | ALMS1 | c.10253T>C (p.Ile3418Thr) c.3339T>C c.7534T>C c.4700T>C (p.Ile1567Thr) c.7579T>C c.10634T>C (p.Ile3545Thr) c.788T>C (p.Ile263Thr) c.1990T>C c.22T>C c.1731T>C c.4125T>C (n.4125T>C) c.10508T>C (p.Ile3503Thr) n.4437T>C c.10637T>C (p.Ile3546Thr) | |
2 | g.73572511T>G | CA347284340 | ALMS1 | c.10253T>G (p.Ile3418Arg) c.3339T>G c.7534T>G c.4700T>G (p.Ile1567Arg) c.7579T>G c.10634T>G (p.Ile3545Arg) c.788T>G (p.Ile263Arg) c.1990T>G c.22T>G c.1731T>G c.4125T>G (n.4125T>G) c.10508T>G (p.Ile3503Arg) n.4437T>G c.10637T>G (p.Ile3546Arg) | |
2 | g.73572512A= | CA1261021244 | ALMS1 | c.10254A= (p.Ile3418=) c.3340A= c.7535A= c.4701A= (p.Ile1567=) c.7580A= c.10635A= (p.Ile3545=) c.789A= (p.Ile263=) c.1991A= c.23A= c.1732A= c.4126A= (n.4126A=) c.10509A= (p.Ile3503=) n.4438A= c.10638A= (p.Ile3546=) | |
2 | g.73572512A>C | CA427024059 | ALMS1 | c.10254A>C (p.Ile3418=) c.3340A>C c.7535A>C c.4701A>C (p.Ile1567=) c.7580A>C c.10635A>C (p.Ile3545=) c.789A>C (p.Ile263=) c.1991A>C c.23A>C c.1732A>C c.4126A>C (n.4126A>C) c.10509A>C (p.Ile3503=) n.4438A>C c.10638A>C (p.Ile3546=) | |
2 | g.73572512A>G | CA1715038 | ALMS1 | c.10254A>G (p.Ile3418Met) c.3340A>G c.7535A>G c.4701A>G (p.Ile1567Met) c.7580A>G c.10635A>G (p.Ile3545Met) c.789A>G (p.Ile263Met) c.1991A>G c.23A>G c.1732A>G c.4126A>G (n.4126A>G) c.10509A>G (p.Ile3503Met) n.4438A>G c.10638A>G (p.Ile3546Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572512A>T | CA427024062 | ALMS1 | c.10254A>T (p.Ile3418=) c.3340A>T c.7535A>T c.4701A>T (p.Ile1567=) c.7580A>T c.10635A>T (p.Ile3545=) c.789A>T (p.Ile263=) c.1991A>T c.23A>T c.1732A>T c.4126A>T (n.4126A>T) c.10509A>T (p.Ile3503=) n.4438A>T c.10638A>T (p.Ile3546=) | |
2 | g.73572513A= | CA1261021245 | ALMS1 | c.10255A= (p.Lys3419=) c.3341A= c.7536A= c.4702A= (p.Lys1568=) c.7581A= c.10636A= (p.Lys3546=) c.790A= (p.Lys264=) c.1992A= c.24A= c.1733A= c.4127A= (n.4127A=) c.10510A= (p.Lys3504=) n.4439A= c.10639A= (p.Lys3547=) | |
2 | g.73572513A>C | CA347284365 | ALMS1 | c.10255A>C (p.Lys3419Gln) c.3341A>C c.7536A>C c.4702A>C (p.Lys1568Gln) c.7581A>C c.10636A>C (p.Lys3546Gln) c.790A>C (p.Lys264Gln) c.1992A>C c.24A>C c.1733A>C c.4127A>C (n.4127A>C) c.10510A>C (p.Lys3504Gln) n.4439A>C c.10639A>C (p.Lys3547Gln) | |
2 | g.73572513A>G | CA347284368 | ALMS1 | c.10255A>G (p.Lys3419Glu) c.3341A>G c.7536A>G c.4702A>G (p.Lys1568Glu) c.7581A>G c.10636A>G (p.Lys3546Glu) c.790A>G (p.Lys264Glu) c.1992A>G c.24A>G c.1733A>G c.4127A>G (n.4127A>G) c.10510A>G (p.Lys3504Glu) n.4439A>G c.10639A>G (p.Lys3547Glu) | dbSNP |
2 | g.73572513A>T | CA347284370 | ALMS1 | c.10255A>T (p.Lys3419Ter) c.3341A>T c.7536A>T c.4702A>T (p.Lys1568Ter) c.7581A>T c.10636A>T (p.Lys3546Ter) c.790A>T (p.Lys264Ter) c.1992A>T c.24A>T c.1733A>T c.4127A>T (n.4127A>T) c.10510A>T (p.Lys3504Ter) n.4439A>T c.10639A>T (p.Lys3547Ter) | |
2 | g.73572514A>C | CA347284375 | ALMS1 | c.10256A>C (p.Lys3419Thr) c.3342A>C c.7537A>C c.4703A>C (p.Lys1568Thr) c.7582A>C c.10637A>C (p.Lys3546Thr) c.791A>C (p.Lys264Thr) c.1993A>C c.25A>C c.1734A>C c.4128A>C (n.4128A>C) c.10511A>C (p.Lys3504Thr) n.4440A>C c.10640A>C (p.Lys3547Thr) | |
2 | g.73572514A>G | CA347284379 | ALMS1 | c.10256A>G (p.Lys3419Arg) c.3342A>G c.7537A>G c.4703A>G (p.Lys1568Arg) c.7582A>G c.10637A>G (p.Lys3546Arg) c.791A>G (p.Lys264Arg) c.1993A>G c.25A>G c.1734A>G c.4128A>G (n.4128A>G) c.10511A>G (p.Lys3504Arg) n.4440A>G c.10640A>G (p.Lys3547Arg) | |
2 | g.73572514A>T | CA347284382 | ALMS1 | c.10256A>T (p.Lys3419Met) c.3342A>T c.7537A>T c.4703A>T (p.Lys1568Met) c.7582A>T c.10637A>T (p.Lys3546Met) c.791A>T (p.Lys264Met) c.1993A>T c.25A>T c.1734A>T c.4128A>T (n.4128A>T) c.10511A>T (p.Lys3504Met) n.4440A>T c.10640A>T (p.Lys3547Met) | |
2 | g.73572515G>A | CA427024068 | ALMS1 | c.10257G>A (p.Lys3419=) c.3343G>A c.7538G>A c.4704G>A (p.Lys1568=) c.7583G>A c.10638G>A (p.Lys3546=) c.792G>A (p.Lys264=) c.1994G>A c.26G>A c.1735G>A c.4129G>A (n.4129G>A) c.10512G>A (p.Lys3504=) n.4441G>A c.10641G>A (p.Lys3547=) | gnomAD v4 |
2 | g.73572515G>C | CA347284389 | ALMS1 | c.10257G>C (p.Lys3419Asn) c.3343G>C c.7538G>C c.4704G>C (p.Lys1568Asn) c.7583G>C c.10638G>C (p.Lys3546Asn) c.792G>C (p.Lys264Asn) c.1994G>C c.26G>C c.1735G>C c.4129G>C (n.4129G>C) c.10512G>C (p.Lys3504Asn) n.4441G>C c.10641G>C (p.Lys3547Asn) | gnomAD v4 |
2 | g.73572515G>T | CA347284393 | ALMS1 | c.10257G>T (p.Lys3419Asn) c.3343G>T c.7538G>T c.4704G>T (p.Lys1568Asn) c.7583G>T c.10638G>T (p.Lys3546Asn) c.792G>T (p.Lys264Asn) c.1994G>T c.26G>T c.1735G>T c.4129G>T (n.4129G>T) c.10512G>T (p.Lys3504Asn) n.4441G>T c.10641G>T (p.Lys3547Asn) | |
2 | g.73572516A= | CA1261021246 | ALMS1 | c.10258A= (p.Ser3420=) c.3344A= c.7539A= c.4705A= (p.Ser1569=) c.7584A= c.10639A= (p.Ser3547=) c.793A= (p.Ser265=) c.1995A= c.27A= c.1736A= c.4130A= (n.4130A=) c.10513A= (p.Ser3505=) n.4442A= c.10642A= (p.Ser3548=) | |
2 | g.73572516A>C | CA347284398 | ALMS1 | c.10258A>C (p.Ser3420Arg) c.3344A>C c.7539A>C c.4705A>C (p.Ser1569Arg) c.7584A>C c.10639A>C (p.Ser3547Arg) c.793A>C (p.Ser265Arg) c.1995A>C c.27A>C c.1736A>C c.4130A>C (n.4130A>C) c.10513A>C (p.Ser3505Arg) n.4442A>C c.10642A>C (p.Ser3548Arg) | |
2 | g.73572516A>G | CA347284401 | ALMS1 | c.10258A>G (p.Ser3420Gly) c.3344A>G c.7539A>G c.4705A>G (p.Ser1569Gly) c.7584A>G c.10639A>G (p.Ser3547Gly) c.793A>G (p.Ser265Gly) c.1995A>G c.27A>G c.1736A>G c.4130A>G (n.4130A>G) c.10513A>G (p.Ser3505Gly) n.4442A>G c.10642A>G (p.Ser3548Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572516A>T | CA347284404 | ALMS1 | c.10258A>T (p.Ser3420Cys) c.3344A>T c.7539A>T c.4705A>T (p.Ser1569Cys) c.7584A>T c.10639A>T (p.Ser3547Cys) c.793A>T (p.Ser265Cys) c.1995A>T c.27A>T c.1736A>T c.4130A>T (n.4130A>T) c.10513A>T (p.Ser3505Cys) n.4442A>T c.10642A>T (p.Ser3548Cys) | |
2 | g.73572517G>A | CA347284413 | ALMS1 | c.10259G>A (p.Ser3420Asn) c.3345G>A c.7540G>A c.4706G>A (p.Ser1569Asn) c.7585G>A c.10640G>A (p.Ser3547Asn) c.794G>A (p.Ser265Asn) c.1996G>A c.28G>A c.1737G>A c.4131G>A (n.4131G>A) c.10514G>A (p.Ser3505Asn) n.4443G>A c.10643G>A (p.Ser3548Asn) | |
2 | g.73572517G>C | CA347284416 | ALMS1 | c.10259G>C (p.Ser3420Thr) c.3345G>C c.7540G>C c.4706G>C (p.Ser1569Thr) c.7585G>C c.10640G>C (p.Ser3547Thr) c.794G>C (p.Ser265Thr) c.1996G>C c.28G>C c.1737G>C c.4131G>C (n.4131G>C) c.10514G>C (p.Ser3505Thr) n.4443G>C c.10643G>C (p.Ser3548Thr) | |
2 | g.73572517G>T | CA347284410 | ALMS1 | c.10259G>T (p.Ser3420Ile) c.3345G>T c.7540G>T c.4706G>T (p.Ser1569Ile) c.7585G>T c.10640G>T (p.Ser3547Ile) c.794G>T (p.Ser265Ile) c.1996G>T c.28G>T c.1737G>T c.4131G>T (n.4131G>T) c.10514G>T (p.Ser3505Ile) n.4443G>T c.10643G>T (p.Ser3548Ile) | |
2 | g.73572518C>A | CA347284418 | ALMS1 | c.10260C>A (p.Ser3420Arg) c.3346C>A c.7541C>A c.4707C>A (p.Ser1569Arg) c.7586C>A c.10641C>A (p.Ser3547Arg) c.795C>A (p.Ser265Arg) c.1997C>A c.29C>A c.1738C>A c.4132C>A (n.4132C>A) c.10515C>A (p.Ser3505Arg) n.4444C>A c.10644C>A (p.Ser3548Arg) | |
2 | g.73572518C= | CA1261021247 | ALMS1 | c.10260C= (p.Ser3420=) c.3346C= c.7541C= c.4707C= (p.Ser1569=) c.7586C= c.10641C= (p.Ser3547=) c.795C= (p.Ser265=) c.1997C= c.29C= c.1738C= c.4132C= (n.4132C=) c.10515C= (p.Ser3505=) n.4444C= c.10644C= (p.Ser3548=) | |
2 | g.73572518C>G | CA347284419 | ALMS1 | c.10260C>G (p.Ser3420Arg) c.3346C>G c.7541C>G c.4707C>G (p.Ser1569Arg) c.7586C>G c.10641C>G (p.Ser3547Arg) c.795C>G (p.Ser265Arg) c.1997C>G c.29C>G c.1738C>G c.4132C>G (n.4132C>G) c.10515C>G (p.Ser3505Arg) n.4444C>G c.10644C>G (p.Ser3548Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.73572518C>T | CA50386318 | ALMS1 | c.10260C>T (p.Ser3420=) c.3346C>T c.7541C>T c.4707C>T (p.Ser1569=) c.7586C>T c.10641C>T (p.Ser3547=) c.795C>T (p.Ser265=) c.1997C>T c.29C>T c.1738C>T c.4132C>T (n.4132C>T) c.10515C>T (p.Ser3505=) n.4444C>T c.10644C>T (p.Ser3548=) | ClinVar dbSNP gnomAD v4 |
2 | g.73572519C>A | CA347284425 | ALMS1 | c.10261C>A (p.Leu3421Ile) c.3347C>A c.7542C>A c.4708C>A (p.Leu1570Ile) c.7587C>A c.10642C>A (p.Leu3548Ile) c.796C>A (p.Leu266Ile) c.1998C>A c.30C>A c.1739C>A c.4133C>A (n.4133C>A) c.10516C>A (p.Leu3506Ile) n.4445C>A c.10645C>A (p.Leu3549Ile) | |
2 | g.73572519C= | CA1261021248 | ALMS1 | c.10261C= (p.Leu3421=) c.3347C= c.7542C= c.4708C= (p.Leu1570=) c.7587C= c.10642C= (p.Leu3548=) c.796C= (p.Leu266=) c.1998C= c.30C= c.1739C= c.4133C= (n.4133C=) c.10516C= (p.Leu3506=) n.4445C= c.10645C= (p.Leu3549=) | |
2 | g.73572519C>G | CA347284428 | ALMS1 | c.10261C>G (p.Leu3421Val) c.3347C>G c.7542C>G c.4708C>G (p.Leu1570Val) c.7587C>G c.10642C>G (p.Leu3548Val) c.796C>G (p.Leu266Val) c.1998C>G c.30C>G c.1739C>G c.4133C>G (n.4133C>G) c.10516C>G (p.Leu3506Val) n.4445C>G c.10645C>G (p.Leu3549Val) | |
2 | g.73572519C>T | CA50386332 | ALMS1 | c.10261C>T (p.Leu3421Phe) c.3347C>T c.7542C>T c.4708C>T (p.Leu1570Phe) c.7587C>T c.10642C>T (p.Leu3548Phe) c.796C>T (p.Leu266Phe) c.1998C>T c.30C>T c.1739C>T c.4133C>T (n.4133C>T) c.10516C>T (p.Leu3506Phe) n.4445C>T c.10645C>T (p.Leu3549Phe) | dbSNP gnomAD v4 |
2 | g.73572520T>A | CA347284441 | ALMS1 | c.10262T>A (p.Leu3421His) c.3348T>A c.7543T>A c.4709T>A (p.Leu1570His) c.7588T>A c.10643T>A (p.Leu3548His) c.797T>A (p.Leu266His) c.1999T>A c.31T>A c.1740T>A c.4134T>A (n.4134T>A) c.10517T>A (p.Leu3506His) n.4446T>A c.10646T>A (p.Leu3549His) | ClinVar dbSNP |
2 | g.73572520T>C | CA347284435 | ALMS1 | c.10262T>C (p.Leu3421Pro) c.3348T>C c.7543T>C c.4709T>C (p.Leu1570Pro) c.7588T>C c.10643T>C (p.Leu3548Pro) c.797T>C (p.Leu266Pro) c.1999T>C c.31T>C c.1740T>C c.4134T>C (n.4134T>C) c.10517T>C (p.Leu3506Pro) n.4446T>C c.10646T>C (p.Leu3549Pro) | |
2 | g.73572520T>G | CA347284439 | ALMS1 | c.10262T>G (p.Leu3421Arg) c.3348T>G c.7543T>G c.4709T>G (p.Leu1570Arg) c.7588T>G c.10643T>G (p.Leu3548Arg) c.797T>G (p.Leu266Arg) c.1999T>G c.31T>G c.1740T>G c.4134T>G (n.4134T>G) c.10517T>G (p.Leu3506Arg) n.4446T>G c.10646T>G (p.Leu3549Arg) | |
2 | g.73572520T= | CA1261021249 | ALMS1 | c.10262T= (p.Leu3421=) c.3348T= c.7543T= c.4709T= (p.Leu1570=) c.7588T= c.10643T= (p.Leu3548=) c.797T= (p.Leu266=) c.1999T= c.31T= c.1740T= c.4134T= (n.4134T=) c.10517T= (p.Leu3506=) n.4446T= c.10646T= (p.Leu3549=) | |
2 | g.73572521C>A | CA427024074 | ALMS1 | c.10263C>A (p.Leu3421=) c.3349C>A c.7544C>A c.4710C>A (p.Leu1570=) c.7589C>A c.10644C>A (p.Leu3548=) c.798C>A (p.Leu266=) c.2000C>A c.32C>A c.1741C>A c.4135C>A (n.4135C>A) c.10518C>A (p.Leu3506=) n.4447C>A c.10647C>A (p.Leu3549=) | |
2 | g.73572521C= | CA1261021250 | ALMS1 | c.10263C= (p.Leu3421=) c.3349C= c.7544C= c.4710C= (p.Leu1570=) c.7589C= c.10644C= (p.Leu3548=) c.798C= (p.Leu266=) c.2000C= c.32C= c.1741C= c.4135C= (n.4135C=) c.10518C= (p.Leu3506=) n.4447C= c.10647C= (p.Leu3549=) | |
2 | g.73572521C>G | CA427024075 | ALMS1 | c.10263C>G (p.Leu3421=) c.3349C>G c.7544C>G c.4710C>G (p.Leu1570=) c.7589C>G c.10644C>G (p.Leu3548=) c.798C>G (p.Leu266=) c.2000C>G c.32C>G c.1741C>G c.4135C>G (n.4135C>G) c.10518C>G (p.Leu3506=) n.4447C>G c.10647C>G (p.Leu3549=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572521C>T | CA427024076 | ALMS1 | c.10263C>T (p.Leu3421=) c.3349C>T c.7544C>T c.4710C>T (p.Leu1570=) c.7589C>T c.10644C>T (p.Leu3548=) c.798C>T (p.Leu266=) c.2000C>T c.32C>T c.1741C>T c.4135C>T (n.4135C>T) c.10518C>T (p.Leu3506=) n.4447C>T c.10647C>T (p.Leu3549=) | |
2 | g.73572522A>C | CA347284444 | ALMS1 | c.10264A>C (p.Ser3422Arg) c.3350A>C c.7545A>C c.4711A>C (p.Ser1571Arg) c.7590A>C c.10645A>C (p.Ser3549Arg) c.799A>C (p.Ser267Arg) c.2001A>C c.33A>C c.1742A>C c.4136A>C (n.4136A>C) c.10519A>C (p.Ser3507Arg) n.4448A>C c.10648A>C (p.Ser3550Arg) | |
2 | g.73572522A>G | CA347284446 | ALMS1 | c.10264A>G (p.Ser3422Gly) c.3350A>G c.7545A>G c.4711A>G (p.Ser1571Gly) c.7590A>G c.10645A>G (p.Ser3549Gly) c.799A>G (p.Ser267Gly) c.2001A>G c.33A>G c.1742A>G c.4136A>G (n.4136A>G) c.10519A>G (p.Ser3507Gly) n.4448A>G c.10648A>G (p.Ser3550Gly) | |
2 | g.73572522A>T | CA347284448 | ALMS1 | c.10264A>T (p.Ser3422Cys) c.3350A>T c.7545A>T c.4711A>T (p.Ser1571Cys) c.7590A>T c.10645A>T (p.Ser3549Cys) c.799A>T (p.Ser267Cys) c.2001A>T c.33A>T c.1742A>T c.4136A>T (n.4136A>T) c.10519A>T (p.Ser3507Cys) n.4448A>T c.10648A>T (p.Ser3550Cys) | |
2 | g.73572523G>A | CA347284451 | ALMS1 | c.10265G>A (p.Ser3422Asn) c.3351G>A c.7546G>A c.4712G>A (p.Ser1571Asn) c.7591G>A c.10646G>A (p.Ser3549Asn) c.800G>A (p.Ser267Asn) c.2002G>A c.34G>A c.1743G>A c.4137G>A (n.4137G>A) c.10520G>A (p.Ser3507Asn) n.4449G>A c.10649G>A (p.Ser3550Asn) | |
2 | g.73572523G>C | CA347284453 | ALMS1 | c.10265G>C (p.Ser3422Thr) c.3351G>C c.7546G>C c.4712G>C (p.Ser1571Thr) c.7591G>C c.10646G>C (p.Ser3549Thr) c.800G>C (p.Ser267Thr) c.2002G>C c.34G>C c.1743G>C c.4137G>C (n.4137G>C) c.10520G>C (p.Ser3507Thr) n.4449G>C c.10649G>C (p.Ser3550Thr) | |
2 | g.73572523G>T | CA347284456 | ALMS1 | c.10265G>T (p.Ser3422Ile) c.3351G>T c.7546G>T c.4712G>T (p.Ser1571Ile) c.7591G>T c.10646G>T (p.Ser3549Ile) c.800G>T (p.Ser267Ile) c.2002G>T c.34G>T c.1743G>T c.4137G>T (n.4137G>T) c.10520G>T (p.Ser3507Ile) n.4449G>T c.10649G>T (p.Ser3550Ile) | |
2 | g.73572524C>A | CA347284461 | ALMS1 | c.10266C>A (p.Ser3422Arg) c.3352C>A c.7547C>A c.4713C>A (p.Ser1571Arg) c.7592C>A c.10647C>A (p.Ser3549Arg) c.801C>A (p.Ser267Arg) c.2003C>A c.35C>A c.1744C>A c.4138C>A (n.4138C>A) c.10521C>A (p.Ser3507Arg) n.4450C>A c.10650C>A (p.Ser3550Arg) | |
2 | g.73572524C= | CA1261021252 | ALMS1 | c.10266C= (p.Ser3422=) c.3352C= c.7547C= c.4713C= (p.Ser1571=) c.7592C= c.10647C= (p.Ser3549=) c.801C= (p.Ser267=) c.2003C= c.35C= c.1744C= c.4138C= (n.4138C=) c.10521C= (p.Ser3507=) n.4450C= c.10650C= (p.Ser3550=) | |
2 | g.73572524C>G | CA347284463 | ALMS1 | c.10266C>G (p.Ser3422Arg) c.3352C>G c.7547C>G c.4713C>G (p.Ser1571Arg) c.7592C>G c.10647C>G (p.Ser3549Arg) c.801C>G (p.Ser267Arg) c.2003C>G c.35C>G c.1744C>G c.4138C>G (n.4138C>G) c.10521C>G (p.Ser3507Arg) n.4450C>G c.10650C>G (p.Ser3550Arg) | |
2 | g.73572524C>T | CA50386340 | ALMS1 | c.10266C>T (p.Ser3422=) c.3352C>T c.7547C>T c.4713C>T (p.Ser1571=) c.7592C>T c.10647C>T (p.Ser3549=) c.801C>T (p.Ser267=) c.2003C>T c.35C>T c.1744C>T c.4138C>T (n.4138C>T) c.10521C>T (p.Ser3507=) n.4450C>T c.10650C>T (p.Ser3550=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572525A= | CA1261021254 | ALMS1 | c.10267A= (p.Ile3423=) c.3353A= c.7548A= c.4714A= (p.Ile1572=) c.7593A= c.10648A= (p.Ile3550=) c.802A= (p.Ile268=) c.2004A= c.36A= c.1745A= c.4139A= (n.4139A=) c.10522A= (p.Ile3508=) n.4451A= c.10651A= (p.Ile3551=) | |
2 | g.73572525A>C | CA1715039 | ALMS1 | c.10267A>C (p.Ile3423Leu) c.3353A>C c.7548A>C c.4714A>C (p.Ile1572Leu) c.7593A>C c.10648A>C (p.Ile3550Leu) c.802A>C (p.Ile268Leu) c.2004A>C c.36A>C c.1745A>C c.4139A>C (n.4139A>C) c.10522A>C (p.Ile3508Leu) n.4451A>C c.10651A>C (p.Ile3551Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572525A>G | CA347284474 | ALMS1 | c.10267A>G (p.Ile3423Val) c.3353A>G c.7548A>G c.4714A>G (p.Ile1572Val) c.7593A>G c.10648A>G (p.Ile3550Val) c.802A>G (p.Ile268Val) c.2004A>G c.36A>G c.1745A>G c.4139A>G (n.4139A>G) c.10522A>G (p.Ile3508Val) n.4451A>G c.10651A>G (p.Ile3551Val) | dbSNP gnomAD v4 |
2 | g.73572525A>T | CA347284470 | ALMS1 | c.10267A>T (p.Ile3423Phe) c.3353A>T c.7548A>T c.4714A>T (p.Ile1572Phe) c.7593A>T c.10648A>T (p.Ile3550Phe) c.802A>T (p.Ile268Phe) c.2004A>T c.36A>T c.1745A>T c.4139A>T (n.4139A>T) c.10522A>T (p.Ile3508Phe) n.4451A>T c.10651A>T (p.Ile3551Phe) | |
2 | g.73572526T>A | CA347284481 | ALMS1 | c.10268T>A (p.Ile3423Asn) c.3354T>A c.7549T>A c.4715T>A (p.Ile1572Asn) c.7594T>A c.10649T>A (p.Ile3550Asn) c.803T>A (p.Ile268Asn) c.2005T>A c.37T>A c.1746T>A c.4140T>A (n.4140T>A) c.10523T>A (p.Ile3508Asn) n.4452T>A c.10652T>A (p.Ile3551Asn) | |
2 | g.73572526T>C | CA347284490 | ALMS1 | c.10268T>C (p.Ile3423Thr) c.3354T>C c.7549T>C c.4715T>C (p.Ile1572Thr) c.7594T>C c.10649T>C (p.Ile3550Thr) c.803T>C (p.Ile268Thr) c.2005T>C c.37T>C c.1746T>C c.4140T>C (n.4140T>C) c.10523T>C (p.Ile3508Thr) n.4452T>C c.10652T>C (p.Ile3551Thr) | |
2 | g.73572526T>G | CA347284486 | ALMS1 | c.10268T>G (p.Ile3423Ser) c.3354T>G c.7549T>G c.4715T>G (p.Ile1572Ser) c.7594T>G c.10649T>G (p.Ile3550Ser) c.803T>G (p.Ile268Ser) c.2005T>G c.37T>G c.1746T>G c.4140T>G (n.4140T>G) c.10523T>G (p.Ile3508Ser) n.4452T>G c.10652T>G (p.Ile3551Ser) | |
2 | g.73572527C>A | CA427024089 | ALMS1 | c.10269C>A (p.Ile3423=) c.3355C>A c.7550C>A c.4716C>A (p.Ile1572=) c.7595C>A c.10650C>A (p.Ile3550=) c.804C>A (p.Ile268=) c.2006C>A c.38C>A c.1747C>A c.4141C>A (n.4141C>A) c.10524C>A (p.Ile3508=) n.4453C>A c.10653C>A (p.Ile3551=) | dbSNP |
2 | g.73572527C= | CA1261021255 | ALMS1 | c.10269C= (p.Ile3423=) c.3355C= c.7550C= c.4716C= (p.Ile1572=) c.7595C= c.10650C= (p.Ile3550=) c.804C= (p.Ile268=) c.2006C= c.38C= c.1747C= c.4141C= (n.4141C=) c.10524C= (p.Ile3508=) n.4453C= c.10653C= (p.Ile3551=) | |
2 | g.73572527C>G | CA347284494 | ALMS1 | c.10269C>G (p.Ile3423Met) c.3355C>G c.7550C>G c.4716C>G (p.Ile1572Met) c.7595C>G c.10650C>G (p.Ile3550Met) c.804C>G (p.Ile268Met) c.2006C>G c.38C>G c.1747C>G c.4141C>G (n.4141C>G) c.10524C>G (p.Ile3508Met) n.4453C>G c.10653C>G (p.Ile3551Met) | |
2 | g.73572527C>T | CA427024090 | ALMS1 | c.10269C>T (p.Ile3423=) c.3355C>T c.7550C>T c.4716C>T (p.Ile1572=) c.7595C>T c.10650C>T (p.Ile3550=) c.804C>T (p.Ile268=) c.2006C>T c.38C>T c.1747C>T c.4141C>T (n.4141C>T) c.10524C>T (p.Ile3508=) n.4453C>T c.10653C>T (p.Ile3551=) | dbSNP |
2 | g.73572528A= | CA1261021256 | ALMS1 | c.10270A= (p.Asn3424=) c.3356A= c.7551A= c.4717A= (p.Asn1573=) c.7596A= c.10651A= (p.Asn3551=) c.805A= (p.Asn269=) c.2007A= c.39A= c.1748A= c.4142A= (n.4142A=) c.10525A= (p.Asn3509=) n.4454A= c.10654A= (p.Asn3552=) | |
2 | g.73572528A>C | CA347284505 | ALMS1 | c.10270A>C (p.Asn3424His) c.3356A>C c.7551A>C c.4717A>C (p.Asn1573His) c.7596A>C c.10651A>C (p.Asn3551His) c.805A>C (p.Asn269His) c.2007A>C c.39A>C c.1748A>C c.4142A>C (n.4142A>C) c.10525A>C (p.Asn3509His) n.4454A>C c.10654A>C (p.Asn3552His) | |
2 | g.73572528A>G | CA1715040 | ALMS1 | c.10270A>G (p.Asn3424Asp) c.3356A>G c.7551A>G c.4717A>G (p.Asn1573Asp) c.7596A>G c.10651A>G (p.Asn3551Asp) c.805A>G (p.Asn269Asp) c.2007A>G c.39A>G c.1748A>G c.4142A>G (n.4142A>G) c.10525A>G (p.Asn3509Asp) n.4454A>G c.10654A>G (p.Asn3552Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572528A>T | CA347284503 | ALMS1 | c.10270A>T (p.Asn3424Tyr) c.3356A>T c.7551A>T c.4717A>T (p.Asn1573Tyr) c.7596A>T c.10651A>T (p.Asn3551Tyr) c.805A>T (p.Asn269Tyr) c.2007A>T c.39A>T c.1748A>T c.4142A>T (n.4142A>T) c.10525A>T (p.Asn3509Tyr) n.4454A>T c.10654A>T (p.Asn3552Tyr) | |
2 | g.73572529dup | CA1261021257 | ALMS1 | c.10271dup (p.Asn3424LysfsTer14) c.3357dup c.7552dup c.4718dup (p.Asn1573LysfsTer14) c.7597dup c.10652dup (p.Asn3551LysfsTer14) c.806dup (p.Asn269LysfsTer14) c.2008dup c.40dup c.1749dup c.4143dup (n.4143dup) c.10526dup (p.Asn3509LysfsTer14) n.4455dup c.10655dup (p.Asn3552LysfsTer14) | ClinVar dbSNP gnomAD v4 |
2 | g.73572529A= | CA1261021258 | ALMS1 | c.10271A= (p.Asn3424=) c.3357A= c.7552A= c.4718A= (p.Asn1573=) c.7597A= c.10652A= (p.Asn3551=) c.806A= (p.Asn269=) c.2008A= c.40A= c.1749A= c.4143A= (n.4143A=) c.10526A= (p.Asn3509=) n.4455A= c.10655A= (p.Asn3552=) | |
2 | g.73572529A>C | CA347284511 | ALMS1 | c.10271A>C (p.Asn3424Thr) c.3357A>C c.7552A>C c.4718A>C (p.Asn1573Thr) c.7597A>C c.10652A>C (p.Asn3551Thr) c.806A>C (p.Asn269Thr) c.2008A>C c.40A>C c.1749A>C c.4143A>C (n.4143A>C) c.10526A>C (p.Asn3509Thr) n.4455A>C c.10655A>C (p.Asn3552Thr) | |
2 | g.73572529A>G | CA50386346 | ALMS1 | c.10271A>G (p.Asn3424Ser) c.3357A>G c.7552A>G c.4718A>G (p.Asn1573Ser) c.7597A>G c.10652A>G (p.Asn3551Ser) c.806A>G (p.Asn269Ser) c.2008A>G c.40A>G c.1749A>G c.4143A>G (n.4143A>G) c.10526A>G (p.Asn3509Ser) n.4455A>G c.10655A>G (p.Asn3552Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.73572529A>T | CA347284516 | ALMS1 | c.10271A>T (p.Asn3424Ile) c.3357A>T c.7552A>T c.4718A>T (p.Asn1573Ile) c.7597A>T c.10652A>T (p.Asn3551Ile) c.806A>T (p.Asn269Ile) c.2008A>T c.40A>T c.1749A>T c.4143A>T (n.4143A>T) c.10526A>T (p.Asn3509Ile) n.4455A>T c.10655A>T (p.Asn3552Ile) | dbSNP |
2 | g.73572530T>A | CA347284519 | ALMS1 | c.10272T>A (p.Asn3424Lys) c.3358T>A c.7553T>A c.4719T>A (p.Asn1573Lys) c.7598T>A c.10653T>A (p.Asn3551Lys) c.807T>A (p.Asn269Lys) c.2009T>A c.41T>A c.1750T>A c.4144T>A (n.4144T>A) c.10527T>A (p.Asn3509Lys) n.4456T>A c.10656T>A (p.Asn3552Lys) | |
2 | g.73572530T>C | CA427024096 | ALMS1 | c.10272T>C (p.Asn3424=) c.3358T>C c.7553T>C c.4719T>C (p.Asn1573=) c.7598T>C c.10653T>C (p.Asn3551=) c.807T>C (p.Asn269=) c.2009T>C c.41T>C c.1750T>C c.4144T>C (n.4144T>C) c.10527T>C (p.Asn3509=) n.4456T>C c.10656T>C (p.Asn3552=) | |
2 | g.73572530T>G | CA347284521 | ALMS1 | c.10272T>G (p.Asn3424Lys) c.3358T>G c.7553T>G c.4719T>G (p.Asn1573Lys) c.7598T>G c.10653T>G (p.Asn3551Lys) c.807T>G (p.Asn269Lys) c.2009T>G c.41T>G c.1750T>G c.4144T>G (n.4144T>G) c.10527T>G (p.Asn3509Lys) n.4456T>G c.10656T>G (p.Asn3552Lys) | |
2 | g.73572530_73572531insACA | CA2750467773 | ALMS1 | c.10272_10273insACA (p.Asn3424_Val3425insThr) c.3358_3359insACA c.7553_7554insACA c.4719_4720insACA (p.Asn1573_Val1574insThr) c.7598_7599insACA c.10653_10654insACA (p.Asn3551_Val3552insThr) c.807_808insACA (p.Asn269_Val270insThr) c.2009_2010insACA c.41_42insACA c.1750_1751insACA c.4144_4145insACA (n.4144_4145insACA) c.10527_10528insACA (p.Asn3509_Val3510insThr) n.4456_4457insACA c.10656_10657insACA (p.Asn3552_Val3553insThr) | |
2 | g.73572531G>A | CA347284525 | ALMS1 | c.10273G>A (p.Val3425Met) c.3359G>A c.7554G>A c.4720G>A (p.Val1574Met) c.7599G>A c.10654G>A (p.Val3552Met) c.808G>A (p.Val270Met) c.2010G>A c.42G>A c.1751G>A c.4145G>A (n.4145G>A) c.10528G>A (p.Val3510Met) n.4457G>A c.10657G>A (p.Val3553Met) | gnomAD v4 |
2 | g.73572531G>C | CA347284529 | ALMS1 | c.10273G>C (p.Val3425Leu) c.3359G>C c.7554G>C c.4720G>C (p.Val1574Leu) c.7599G>C c.10654G>C (p.Val3552Leu) c.808G>C (p.Val270Leu) c.2010G>C c.42G>C c.1751G>C c.4145G>C (n.4145G>C) c.10528G>C (p.Val3510Leu) n.4457G>C c.10657G>C (p.Val3553Leu) | |
2 | g.73572531G>T | CA347284530 | ALMS1 | c.10273G>T (p.Val3425Leu) c.3359G>T c.7554G>T c.4720G>T (p.Val1574Leu) c.7599G>T c.10654G>T (p.Val3552Leu) c.808G>T (p.Val270Leu) c.2010G>T c.42G>T c.1751G>T c.4145G>T (n.4145G>T) c.10528G>T (p.Val3510Leu) n.4457G>T c.10657G>T (p.Val3553Leu) | gnomAD v4 |
2 | g.73572532T>A | CA347284534 | ALMS1 | c.10274T>A (p.Val3425Glu) c.3360T>A c.7555T>A c.4721T>A (p.Val1574Glu) c.7600T>A c.10655T>A (p.Val3552Glu) c.809T>A (p.Val270Glu) c.2011T>A c.43T>A c.1752T>A c.4146T>A (n.4146T>A) c.10529T>A (p.Val3510Glu) n.4458T>A c.10658T>A (p.Val3553Glu) | |
2 | g.73572532T>C | CA347284535 | ALMS1 | c.10274T>C (p.Val3425Ala) c.3360T>C c.7555T>C c.4721T>C (p.Val1574Ala) c.7600T>C c.10655T>C (p.Val3552Ala) c.809T>C (p.Val270Ala) c.2011T>C c.43T>C c.1752T>C c.4146T>C (n.4146T>C) c.10529T>C (p.Val3510Ala) n.4458T>C c.10658T>C (p.Val3553Ala) | |
2 | g.73572532T>G | CA347284537 | ALMS1 | c.10274T>G (p.Val3425Gly) c.3360T>G c.7555T>G c.4721T>G (p.Val1574Gly) c.7600T>G c.10655T>G (p.Val3552Gly) c.809T>G (p.Val270Gly) c.2011T>G c.43T>G c.1752T>G c.4146T>G (n.4146T>G) c.10529T>G (p.Val3510Gly) n.4458T>G c.10658T>G (p.Val3553Gly) | |
2 | g.73572533G>A | CA427024102 | ALMS1 | c.10275G>A (p.Val3425=) c.3361G>A c.7556G>A c.4722G>A (p.Val1574=) c.7601G>A c.10656G>A (p.Val3552=) c.810G>A (p.Val270=) c.2012G>A c.44G>A c.1753G>A c.4147G>A (n.4147G>A) c.10530G>A (p.Val3510=) n.4459G>A c.10659G>A (p.Val3553=) | ClinVar dbSNP |
2 | g.73572533G>C | CA427024103 | ALMS1 | c.10275G>C (p.Val3425=) c.3361G>C c.7556G>C c.4722G>C (p.Val1574=) c.7601G>C c.10656G>C (p.Val3552=) c.810G>C (p.Val270=) c.2012G>C c.44G>C c.1753G>C c.4147G>C (n.4147G>C) c.10530G>C (p.Val3510=) n.4459G>C c.10659G>C (p.Val3553=) | |
2 | g.73572533G>T | CA427024105 | ALMS1 | c.10275G>T (p.Val3425=) c.3361G>T c.7556G>T c.4722G>T (p.Val1574=) c.7601G>T c.10656G>T (p.Val3552=) c.810G>T (p.Val270=) c.2012G>T c.44G>T c.1753G>T c.4147G>T (n.4147G>T) c.10530G>T (p.Val3510=) n.4459G>T c.10659G>T (p.Val3553=) | gnomAD v4 |
2 | g.73572534A>C | CA347284541 | ALMS1 | c.10276A>C (p.Asn3426His) c.3362A>C c.7557A>C c.4723A>C (p.Asn1575His) c.7602A>C c.10657A>C (p.Asn3553His) c.811A>C (p.Asn271His) c.2013A>C c.45A>C c.1754A>C c.4148A>C (n.4148A>C) c.10531A>C (p.Asn3511His) n.4460A>C c.10660A>C (p.Asn3554His) | |
2 | g.73572534A>G | CA347284547 | ALMS1 | c.10276A>G (p.Asn3426Asp) c.3362A>G c.7557A>G c.4723A>G (p.Asn1575Asp) c.7602A>G c.10657A>G (p.Asn3553Asp) c.811A>G (p.Asn271Asp) c.2013A>G c.45A>G c.1754A>G c.4148A>G (n.4148A>G) c.10531A>G (p.Asn3511Asp) n.4460A>G c.10660A>G (p.Asn3554Asp) | |
2 | g.73572534A>T | CA347284543 | ALMS1 | c.10276A>T (p.Asn3426Tyr) c.3362A>T c.7557A>T c.4723A>T (p.Asn1575Tyr) c.7602A>T c.10657A>T (p.Asn3553Tyr) c.811A>T (p.Asn271Tyr) c.2013A>T c.45A>T c.1754A>T c.4148A>T (n.4148A>T) c.10531A>T (p.Asn3511Tyr) n.4460A>T c.10660A>T (p.Asn3554Tyr) | |
2 | g.73572535A>C | CA347284553 | ALMS1 | c.10277A>C (p.Asn3426Thr) c.3363A>C c.7558A>C c.4724A>C (p.Asn1575Thr) c.7603A>C c.10658A>C (p.Asn3553Thr) c.812A>C (p.Asn271Thr) c.2014A>C c.46A>C c.1755A>C c.4149A>C (n.4149A>C) c.10532A>C (p.Asn3511Thr) n.4461A>C c.10661A>C (p.Asn3554Thr) | |
2 | g.73572535A>G | CA347284556 | ALMS1 | c.10277A>G (p.Asn3426Ser) c.3363A>G c.7558A>G c.4724A>G (p.Asn1575Ser) c.7603A>G c.10658A>G (p.Asn3553Ser) c.812A>G (p.Asn271Ser) c.2014A>G c.46A>G c.1755A>G c.4149A>G (n.4149A>G) c.10532A>G (p.Asn3511Ser) n.4461A>G c.10661A>G (p.Asn3554Ser) | |
2 | g.73572535A>T | CA347284558 | ALMS1 | c.10277A>T (p.Asn3426Ile) c.3363A>T c.7558A>T c.4724A>T (p.Asn1575Ile) c.7603A>T c.10658A>T (p.Asn3553Ile) c.812A>T (p.Asn271Ile) c.2014A>T c.46A>T c.1755A>T c.4149A>T (n.4149A>T) c.10532A>T (p.Asn3511Ile) n.4461A>T c.10661A>T (p.Asn3554Ile) | |
2 | g.73572536T>A | CA347284562 | ALMS1 | c.10278T>A (p.Asn3426Lys) c.3364T>A c.7559T>A c.4725T>A (p.Asn1575Lys) c.7604T>A c.10659T>A (p.Asn3553Lys) c.813T>A (p.Asn271Lys) c.2015T>A c.47T>A c.1756T>A c.4150T>A (n.4150T>A) c.10533T>A (p.Asn3511Lys) n.4462T>A c.10662T>A (p.Asn3554Lys) | |
2 | g.73572536T>C | CA427024113 | ALMS1 | c.10278T>C (p.Asn3426=) c.3364T>C c.7559T>C c.4725T>C (p.Asn1575=) c.7604T>C c.10659T>C (p.Asn3553=) c.813T>C (p.Asn271=) c.2015T>C c.47T>C c.1756T>C c.4150T>C (n.4150T>C) c.10533T>C (p.Asn3511=) n.4462T>C c.10662T>C (p.Asn3554=) | |
2 | g.73572536T>G | CA347284566 | ALMS1 | c.10278T>G (p.Asn3426Lys) c.3364T>G c.7559T>G c.4725T>G (p.Asn1575Lys) c.7604T>G c.10659T>G (p.Asn3553Lys) c.813T>G (p.Asn271Lys) c.2015T>G c.47T>G c.1756T>G c.4150T>G (n.4150T>G) c.10533T>G (p.Asn3511Lys) n.4462T>G c.10662T>G (p.Asn3554Lys) | |
2 | g.73572537T>A | CA347284570 | ALMS1 | c.10279T>A (p.Leu3427Met) c.3365T>A c.7560T>A c.4726T>A (p.Leu1576Met) c.7605T>A c.10660T>A (p.Leu3554Met) c.814T>A (p.Leu272Met) c.2016T>A c.48T>A c.1757T>A c.4151T>A (n.4151T>A) c.10534T>A (p.Leu3512Met) n.4463T>A c.10663T>A (p.Leu3555Met) | |
2 | g.73572537T>C | CA427024114 | ALMS1 | c.10279T>C (p.Leu3427=) c.3365T>C c.7560T>C c.4726T>C (p.Leu1576=) c.7605T>C c.10660T>C (p.Leu3554=) c.814T>C (p.Leu272=) c.2016T>C c.48T>C c.1757T>C c.4151T>C (n.4151T>C) c.10534T>C (p.Leu3512=) n.4463T>C c.10663T>C (p.Leu3555=) | ClinVar |
2 | g.73572537T>G | CA347284572 | ALMS1 | c.10279T>G (p.Leu3427Val) c.3365T>G c.7560T>G c.4726T>G (p.Leu1576Val) c.7605T>G c.10660T>G (p.Leu3554Val) c.814T>G (p.Leu272Val) c.2016T>G c.48T>G c.1757T>G c.4151T>G (n.4151T>G) c.10534T>G (p.Leu3512Val) n.4463T>G c.10663T>G (p.Leu3555Val) | |
2 | g.73572538T>A | CA347284577 | ALMS1 | c.10280T>A (p.Leu3427Ter) c.3366T>A c.7561T>A c.4727T>A (p.Leu1576Ter) c.7606T>A c.10661T>A (p.Leu3554Ter) c.815T>A (p.Leu272Ter) c.2017T>A c.49T>A c.1758T>A c.4152T>A (n.4152T>A) c.10535T>A (p.Leu3512Ter) n.4464T>A c.10664T>A (p.Leu3555Ter) | |
2 | g.73572538T>C | CA347284579 | ALMS1 | c.10280T>C (p.Leu3427Ser) c.3366T>C c.7561T>C c.4727T>C (p.Leu1576Ser) c.7606T>C c.10661T>C (p.Leu3554Ser) c.815T>C (p.Leu272Ser) c.2017T>C c.49T>C c.1758T>C c.4152T>C (n.4152T>C) c.10535T>C (p.Leu3512Ser) n.4464T>C c.10664T>C (p.Leu3555Ser) | |
2 | g.73572538T>G | CA347284581 | ALMS1 | c.10280T>G (p.Leu3427Trp) c.3366T>G c.7561T>G c.4727T>G (p.Leu1576Trp) c.7606T>G c.10661T>G (p.Leu3554Trp) c.815T>G (p.Leu272Trp) c.2017T>G c.49T>G c.1758T>G c.4152T>G (n.4152T>G) c.10535T>G (p.Leu3512Trp) n.4464T>G c.10664T>G (p.Leu3555Trp) | |
2 | g.73572539G>A | CA427024121 | ALMS1 | c.10281G>A (p.Leu3427=) c.3367G>A c.7562G>A c.4728G>A (p.Leu1576=) c.7607G>A c.10662G>A (p.Leu3554=) c.816G>A (p.Leu272=) c.2018G>A c.50G>A c.1759G>A c.4153G>A (n.4153G>A) c.10536G>A (p.Leu3512=) n.4465G>A c.10665G>A (p.Leu3555=) | dbSNP |
2 | g.73572539G>C | CA347284587 | ALMS1 | c.10281G>C (p.Leu3427Phe) c.3367G>C c.7562G>C c.4728G>C (p.Leu1576Phe) c.7607G>C c.10662G>C (p.Leu3554Phe) c.816G>C (p.Leu272Phe) c.2018G>C c.50G>C c.1759G>C c.4153G>C (n.4153G>C) c.10536G>C (p.Leu3512Phe) n.4465G>C c.10665G>C (p.Leu3555Phe) | |
2 | g.73572539G= | CA1261021259 | ALMS1 | c.10281G= (p.Leu3427=) c.3367G= c.7562G= c.4728G= (p.Leu1576=) c.7607G= c.10662G= (p.Leu3554=) c.816G= (p.Leu272=) c.2018G= c.50G= c.1759G= c.4153G= (n.4153G=) c.10536G= (p.Leu3512=) n.4465G= c.10665G= (p.Leu3555=) | |
2 | g.73572539G>T | CA347284583 | ALMS1 | c.10281G>T (p.Leu3427Phe) c.3367G>T c.7562G>T c.4728G>T (p.Leu1576Phe) c.7607G>T c.10662G>T (p.Leu3554Phe) c.816G>T (p.Leu272Phe) c.2018G>T c.50G>T c.1759G>T c.4153G>T (n.4153G>T) c.10536G>T (p.Leu3512Phe) n.4465G>T c.10665G>T (p.Leu3555Phe) | |
2 | g.73572541del | CA501086 | ALMS1 | c.10283del (p.Gly3428GlufsTer5) c.3369del c.7564del c.4730del (p.Gly1577GlufsTer5) c.7609del c.10664del (p.Gly3555GlufsTer5) c.818del (p.Gly273GlufsTer5) c.2020del c.52del c.1761del c.4155del (n.4155del) c.10538del (p.Gly3513GlufsTer5) n.4467del c.10667del (p.Gly3556GlufsTer5) | |
2 | g.73572540G>A | CA347284589 | ALMS1 | c.10282G>A (p.Gly3428Arg) c.3368G>A c.7563G>A c.4729G>A (p.Gly1577Arg) c.7608G>A c.10663G>A (p.Gly3555Arg) c.817G>A (p.Gly273Arg) c.2019G>A c.51G>A c.1760G>A c.4154G>A (n.4154G>A) c.10537G>A (p.Gly3513Arg) n.4466G>A c.10666G>A (p.Gly3556Arg) | |
2 | g.73572540G>C | CA347284591 | ALMS1 | c.10282G>C (p.Gly3428Arg) c.3368G>C c.7563G>C c.4729G>C (p.Gly1577Arg) c.7608G>C c.10663G>C (p.Gly3555Arg) c.817G>C (p.Gly273Arg) c.2019G>C c.51G>C c.1760G>C c.4154G>C (n.4154G>C) c.10537G>C (p.Gly3513Arg) n.4466G>C c.10666G>C (p.Gly3556Arg) | |
2 | g.73572540G>T | CA347284593 | ALMS1 | c.10282G>T (p.Gly3428Ter) c.3368G>T c.7563G>T c.4729G>T (p.Gly1577Ter) c.7608G>T c.10663G>T (p.Gly3555Ter) c.817G>T (p.Gly273Ter) c.2019G>T c.51G>T c.1760G>T c.4154G>T (n.4154G>T) c.10537G>T (p.Gly3513Ter) n.4466G>T c.10666G>T (p.Gly3556Ter) | |
2 | g.73572541G>A | CA347284596 | ALMS1 | c.10283G>A (p.Gly3428Glu) c.3369G>A c.7564G>A c.4730G>A (p.Gly1577Glu) c.7609G>A c.10664G>A (p.Gly3555Glu) c.818G>A (p.Gly273Glu) c.2020G>A c.52G>A c.1761G>A c.4155G>A (n.4155G>A) c.10538G>A (p.Gly3513Glu) n.4467G>A c.10667G>A (p.Gly3556Glu) | |
2 | g.73572541G>C | CA347284598 | ALMS1 | c.10283G>C (p.Gly3428Ala) c.3369G>C c.7564G>C c.4730G>C (p.Gly1577Ala) c.7609G>C c.10664G>C (p.Gly3555Ala) c.818G>C (p.Gly273Ala) c.2020G>C c.52G>C c.1761G>C c.4155G>C (n.4155G>C) c.10538G>C (p.Gly3513Ala) n.4467G>C c.10667G>C (p.Gly3556Ala) | |
2 | g.73572541G>T | CA347284600 | ALMS1 | c.10283G>T (p.Gly3428Val) c.3369G>T c.7564G>T c.4730G>T (p.Gly1577Val) c.7609G>T c.10664G>T (p.Gly3555Val) c.818G>T (p.Gly273Val) c.2020G>T c.52G>T c.1761G>T c.4155G>T (n.4155G>T) c.10538G>T (p.Gly3513Val) n.4467G>T c.10667G>T (p.Gly3556Val) | |
2 | g.73572542A= | CA1261021260 | ALMS1 | c.10284A= (p.Gly3428=) c.3370A= c.7565A= c.4731A= (p.Gly1577=) c.7610A= c.10665A= (p.Gly3555=) c.819A= (p.Gly273=) c.2021A= c.53A= c.1762A= c.4156A= (n.4156A=) c.10539A= (p.Gly3513=) n.4468A= c.10668A= (p.Gly3556=) | |
2 | g.73572542A>C | CA427024128 | ALMS1 | c.10284A>C (p.Gly3428=) c.3370A>C c.7565A>C c.4731A>C (p.Gly1577=) c.7610A>C c.10665A>C (p.Gly3555=) c.819A>C (p.Gly273=) c.2021A>C c.53A>C c.1762A>C c.4156A>C (n.4156A>C) c.10539A>C (p.Gly3513=) n.4468A>C c.10668A>C (p.Gly3556=) | ClinVar dbSNP |
2 | g.73572542A>G | CA427024130 | ALMS1 | c.10284A>G (p.Gly3428=) c.3370A>G c.7565A>G c.4731A>G (p.Gly1577=) c.7610A>G c.10665A>G (p.Gly3555=) c.819A>G (p.Gly273=) c.2021A>G c.53A>G c.1762A>G c.4156A>G (n.4156A>G) c.10539A>G (p.Gly3513=) n.4468A>G c.10668A>G (p.Gly3556=) | |
2 | g.73572542A>T | CA427024131 | ALMS1 | c.10284A>T (p.Gly3428=) c.3370A>T c.7565A>T c.4731A>T (p.Gly1577=) c.7610A>T c.10665A>T (p.Gly3555=) c.819A>T (p.Gly273=) c.2021A>T c.53A>T c.1762A>T c.4156A>T (n.4156A>T) c.10539A>T (p.Gly3513=) n.4468A>T c.10668A>T (p.Gly3556=) | |
2 | g.73572543_73572544del | CA2577005217 | ALMS1 | c.10285_10286del (p.Asn3429GlnfsTer8) c.3371_3372del c.7566_7567del c.4732_4733del (p.Asn1578GlnfsTer8) c.7611_7612del c.10666_10667del (p.Asn3556GlnfsTer8) c.820_821del (p.Asn274GlnfsTer8) c.2022_2023del c.54_55del c.1763_1764del c.4157_4158del (n.4157_4158del) c.10540_10541del (p.Asn3514GlnfsTer8) n.4469_4470del c.10669_10670del (p.Asn3557GlnfsTer8) | |
2 | g.73572543A>C | CA347284607 | ALMS1 | c.10285A>C (p.Asn3429His) c.3371A>C c.7566A>C c.4732A>C (p.Asn1578His) c.7611A>C c.10666A>C (p.Asn3556His) c.820A>C (p.Asn274His) c.2022A>C c.54A>C c.1763A>C c.4157A>C (n.4157A>C) c.10540A>C (p.Asn3514His) n.4469A>C c.10669A>C (p.Asn3557His) | |
2 | g.73572543A>G | CA347284604 | ALMS1 | c.10285A>G (p.Asn3429Asp) c.3371A>G c.7566A>G c.4732A>G (p.Asn1578Asp) c.7611A>G c.10666A>G (p.Asn3556Asp) c.820A>G (p.Asn274Asp) c.2022A>G c.54A>G c.1763A>G c.4157A>G (n.4157A>G) c.10540A>G (p.Asn3514Asp) n.4469A>G c.10669A>G (p.Asn3557Asp) | gnomAD v4 |
2 | g.73572543A>T | CA347284605 | ALMS1 | c.10285A>T (p.Asn3429Tyr) c.3371A>T c.7566A>T c.4732A>T (p.Asn1578Tyr) c.7611A>T c.10666A>T (p.Asn3556Tyr) c.820A>T (p.Asn274Tyr) c.2022A>T c.54A>T c.1763A>T c.4157A>T (n.4157A>T) c.10540A>T (p.Asn3514Tyr) n.4469A>T c.10669A>T (p.Asn3557Tyr) | |
2 | g.73572544A>C | CA347284610 | ALMS1 | c.10286A>C (p.Asn3429Thr) c.3372A>C c.7567A>C c.4733A>C (p.Asn1578Thr) c.7612A>C c.10667A>C (p.Asn3556Thr) c.821A>C (p.Asn274Thr) c.2023A>C c.55A>C c.1764A>C c.4158A>C (n.4158A>C) c.10541A>C (p.Asn3514Thr) n.4470A>C c.10670A>C (p.Asn3557Thr) | |
2 | g.73572544A>G | CA347284611 | ALMS1 | c.10286A>G (p.Asn3429Ser) c.3372A>G c.7567A>G c.4733A>G (p.Asn1578Ser) c.7612A>G c.10667A>G (p.Asn3556Ser) c.821A>G (p.Asn274Ser) c.2023A>G c.55A>G c.1764A>G c.4158A>G (n.4158A>G) c.10541A>G (p.Asn3514Ser) n.4470A>G c.10670A>G (p.Asn3557Ser) | |
2 | g.73572544A>T | CA347284614 | ALMS1 | c.10286A>T (p.Asn3429Ile) c.3372A>T c.7567A>T c.4733A>T (p.Asn1578Ile) c.7612A>T c.10667A>T (p.Asn3556Ile) c.821A>T (p.Asn274Ile) c.2023A>T c.55A>T c.1764A>T c.4158A>T (n.4158A>T) c.10541A>T (p.Asn3514Ile) n.4470A>T c.10670A>T (p.Asn3557Ile) | |
2 | g.73572545del | CA2573135804 | ALMS1 | c.10287del (p.Asn3429LysfsTer4) c.3373del c.7568del c.4734del (p.Asn1578LysfsTer4) c.7613del c.10668del (p.Asn3556LysfsTer4) c.822del (p.Asn274LysfsTer4) c.2024del c.56del c.1765del c.4159del (n.4159del) c.10542del (p.Asn3514LysfsTer4) n.4471del c.10671del (p.Asn3557LysfsTer4) | ClinVar dbSNP |
2 | g.73572545C>A | CA347284617 | ALMS1 | c.10287C>A (p.Asn3429Lys) c.3373C>A c.7568C>A c.4734C>A (p.Asn1578Lys) c.7613C>A c.10668C>A (p.Asn3556Lys) c.822C>A (p.Asn274Lys) c.2024C>A c.56C>A c.1765C>A c.4159C>A (n.4159C>A) c.10542C>A (p.Asn3514Lys) n.4471C>A c.10671C>A (p.Asn3557Lys) | |
2 | g.73572545C>G | CA347284620 | ALMS1 | c.10287C>G (p.Asn3429Lys) c.3373C>G c.7568C>G c.4734C>G (p.Asn1578Lys) c.7613C>G c.10668C>G (p.Asn3556Lys) c.822C>G (p.Asn274Lys) c.2024C>G c.56C>G c.1765C>G c.4159C>G (n.4159C>G) c.10542C>G (p.Asn3514Lys) n.4471C>G c.10671C>G (p.Asn3557Lys) | ClinVar gnomAD v4 |
2 | g.73572545C>T | CA427024135 | ALMS1 | c.10287C>T (p.Asn3429=) c.3373C>T c.7568C>T c.4734C>T (p.Asn1578=) c.7613C>T c.10668C>T (p.Asn3556=) c.822C>T (p.Asn274=) c.2024C>T c.56C>T c.1765C>T c.4159C>T (n.4159C>T) c.10542C>T (p.Asn3514=) n.4471C>T c.10671C>T (p.Asn3557=) | |
2 | g.73572545_73572548delinsCAAA | CA1261021261 | ALMS1 | c.10287_10290delinsCAAA (p.Asn3429=) c.3373_3376delinsCAAA c.7568_7571delinsCAAA c.4734_4737delinsCAAA (p.Asn1578=) c.7613_7616delinsCAAA c.10668_10671delinsCAAA (p.Asn3556=) c.822_825delinsCAAA (p.Asn274=) c.2024_2027delinsCAAA c.56_59delinsCAAA c.1765_1768delinsCAAA c.4159_4162delinsCAAA (n.4159_4162delinsCAAA) c.10542_10545delinsCAAA (p.Asn3514=) n.4471_4474delinsCAAA c.10671_10674delinsCAAA (p.Asn3557=) | |
2 | g.73572545_73572549delinsCAAAG | CA1261021262 | ALMS1 | c.10287_10291delinsCAAAG (p.Asn3429=) c.3373_3377delinsCAAAG c.7568_7572delinsCAAAG c.4734_4738delinsCAAAG (p.Asn1578=) c.7613_7617delinsCAAAG c.10668_10672delinsCAAAG (p.Asn3556=) c.822_826delinsCAAAG (p.Asn274=) c.2024_2028delinsCAAAG c.56_60delinsCAAAG c.1765_1769delinsCAAAG c.4159_4163delinsCAAAG (n.4159_4163delinsCAAAG) c.10542_10546delinsCAAAG (p.Asn3514=) n.4471_4475delinsCAAAG c.10671_10675delinsCAAAG (p.Asn3557=) | |
2 | g.73572546A>C | CA347284625 | ALMS1 | c.10288A>C (p.Lys3430Gln) c.3374A>C c.7569A>C c.4735A>C (p.Lys1579Gln) c.7614A>C c.10669A>C (p.Lys3557Gln) c.823A>C (p.Lys275Gln) c.2025A>C c.57A>C c.1766A>C c.4160A>C (n.4160A>C) c.10543A>C (p.Lys3515Gln) n.4472A>C c.10672A>C (p.Lys3558Gln) | |
2 | g.73572546A>G | CA347284636 | ALMS1 | c.10288A>G (p.Lys3430Glu) c.3374A>G c.7569A>G c.4735A>G (p.Lys1579Glu) c.7614A>G c.10669A>G (p.Lys3557Glu) c.823A>G (p.Lys275Glu) c.2025A>G c.57A>G c.1766A>G c.4160A>G (n.4160A>G) c.10543A>G (p.Lys3515Glu) n.4472A>G c.10672A>G (p.Lys3558Glu) | |
2 | g.73572546A>T | CA347284632 | ALMS1 | c.10288A>T (p.Lys3430Ter) c.3374A>T c.7569A>T c.4735A>T (p.Lys1579Ter) c.7614A>T c.10669A>T (p.Lys3557Ter) c.823A>T (p.Lys275Ter) c.2025A>T c.57A>T c.1766A>T c.4160A>T (n.4160A>T) c.10543A>T (p.Lys3515Ter) n.4472A>T c.10672A>T (p.Lys3558Ter) | |
2 | g.73572546_73572548del | CA1715041 | ALMS1 | c.10288_10290del (p.Lys3430del) c.3374_3376del c.7569_7571del c.4735_4737del (p.Lys1579del) c.7614_7616del c.10669_10671del (p.Lys3557del) c.823_825del (p.Lys275del) c.2025_2027del c.57_59del c.1766_1768del c.4160_4162del (n.4160_4162del) c.10543_10545del (p.Lys3515del) n.4472_4474del c.10672_10674del (p.Lys3558del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572548_73572551del | CA892825931 | ALMS1 | c.10290_10293del (p.Glu3431Ter) c.3376_3379del c.7571_7574del c.4737_4740del (p.Glu1580Ter) c.7616_7619del c.10671_10674del (p.Glu3558Ter) c.825_828del (p.Glu276Ter) c.2027_2030del c.59_62del c.1768_1771del c.4162_4165del (n.4162_4165del) c.10545_10548del (p.Glu3516Ter) n.4474_4477del c.10674_10677del (p.Glu3559Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.73572547A>C | CA347284643 | ALMS1 | c.10289A>C (p.Lys3430Thr) c.3375A>C c.7570A>C c.4736A>C (p.Lys1579Thr) c.7615A>C c.10670A>C (p.Lys3557Thr) c.824A>C (p.Lys275Thr) c.2026A>C c.58A>C c.1767A>C c.4161A>C (n.4161A>C) c.10544A>C (p.Lys3515Thr) n.4473A>C c.10673A>C (p.Lys3558Thr) | |
2 | g.73572547A>G | CA347284647 | ALMS1 | c.10289A>G (p.Lys3430Arg) c.3375A>G c.7570A>G c.4736A>G (p.Lys1579Arg) c.7615A>G c.10670A>G (p.Lys3557Arg) c.824A>G (p.Lys275Arg) c.2026A>G c.58A>G c.1767A>G c.4161A>G (n.4161A>G) c.10544A>G (p.Lys3515Arg) n.4473A>G c.10673A>G (p.Lys3558Arg) | ClinVar |
2 | g.73572547A>T | CA347284651 | ALMS1 | c.10289A>T (p.Lys3430Ile) c.3375A>T c.7570A>T c.4736A>T (p.Lys1579Ile) c.7615A>T c.10670A>T (p.Lys3557Ile) c.824A>T (p.Lys275Ile) c.2026A>T c.58A>T c.1767A>T c.4161A>T (n.4161A>T) c.10544A>T (p.Lys3515Ile) n.4473A>T c.10673A>T (p.Lys3558Ile) | |
2 | g.73572548A= | CA1261021265 | ALMS1 | c.10290A= (p.Lys3430=) c.3376A= c.7571A= c.4737A= (p.Lys1579=) c.7616A= c.10671A= (p.Lys3557=) c.825A= (p.Lys275=) c.2027A= c.59A= c.1768A= c.4162A= (n.4162A=) c.10545A= (p.Lys3515=) n.4474A= c.10674A= (p.Lys3558=) | |
2 | g.73572548A>C | CA347284655 | ALMS1 | c.10290A>C (p.Lys3430Asn) c.3376A>C c.7571A>C c.4737A>C (p.Lys1579Asn) c.7616A>C c.10671A>C (p.Lys3557Asn) c.825A>C (p.Lys275Asn) c.2027A>C c.59A>C c.1768A>C c.4162A>C (n.4162A>C) c.10545A>C (p.Lys3515Asn) n.4474A>C c.10674A>C (p.Lys3558Asn) | ClinVar dbSNP gnomAD v4 |
2 | g.73572548A>G | CA427024142 | ALMS1 | c.10290A>G (p.Lys3430=) c.3376A>G c.7571A>G c.4737A>G (p.Lys1579=) c.7616A>G c.10671A>G (p.Lys3557=) c.825A>G (p.Lys275=) c.2027A>G c.59A>G c.1768A>G c.4162A>G (n.4162A>G) c.10545A>G (p.Lys3515=) n.4474A>G c.10674A>G (p.Lys3558=) | |
2 | g.73572548A>T | CA347284659 | ALMS1 | c.10290A>T (p.Lys3430Asn) c.3376A>T c.7571A>T c.4737A>T (p.Lys1579Asn) c.7616A>T c.10671A>T (p.Lys3557Asn) c.825A>T (p.Lys275Asn) c.2027A>T c.59A>T c.1768A>T c.4162A>T (n.4162A>T) c.10545A>T (p.Lys3515Asn) n.4474A>T c.10674A>T (p.Lys3558Asn) | |
2 | g.73572549G>A | CA347284662 | ALMS1 | c.10291G>A (p.Glu3431Lys) c.3377G>A c.7572G>A c.4738G>A (p.Glu1580Lys) c.7617G>A c.10672G>A (p.Glu3558Lys) c.826G>A (p.Glu276Lys) c.2028G>A c.60G>A c.1769G>A c.4163G>A (n.4163G>A) c.10546G>A (p.Glu3516Lys) n.4475G>A c.10675G>A (p.Glu3559Lys) | gnomAD v4 |
2 | g.73572549G>C | CA347284666 | ALMS1 | c.10291G>C (p.Glu3431Gln) c.3377G>C c.7572G>C c.4738G>C (p.Glu1580Gln) c.7617G>C c.10672G>C (p.Glu3558Gln) c.826G>C (p.Glu276Gln) c.2028G>C c.60G>C c.1769G>C c.4163G>C (n.4163G>C) c.10546G>C (p.Glu3516Gln) n.4475G>C c.10675G>C (p.Glu3559Gln) | |
2 | g.73572549G>T | CA347284669 | ALMS1 | c.10291G>T (p.Glu3431Ter) c.3377G>T c.7572G>T c.4738G>T (p.Glu1580Ter) c.7617G>T c.10672G>T (p.Glu3558Ter) c.826G>T (p.Glu276Ter) c.2028G>T c.60G>T c.1769G>T c.4163G>T (n.4163G>T) c.10546G>T (p.Glu3516Ter) n.4475G>T c.10675G>T (p.Glu3559Ter) | |
2 | g.73572550A>C | CA347284675 | ALMS1 | c.10292A>C (p.Glu3431Ala) c.3378A>C c.7573A>C c.4739A>C (p.Glu1580Ala) c.7618A>C c.10673A>C (p.Glu3558Ala) c.827A>C (p.Glu276Ala) c.2029A>C c.61A>C c.1770A>C c.4164A>C (n.4164A>C) c.10547A>C (p.Glu3516Ala) n.4476A>C c.10676A>C (p.Glu3559Ala) | |
2 | g.73572550A>G | CA347284678 | ALMS1 | c.10292A>G (p.Glu3431Gly) c.3378A>G c.7573A>G c.4739A>G (p.Glu1580Gly) c.7618A>G c.10673A>G (p.Glu3558Gly) c.827A>G (p.Glu276Gly) c.2029A>G c.61A>G c.1770A>G c.4164A>G (n.4164A>G) c.10547A>G (p.Glu3516Gly) n.4476A>G c.10676A>G (p.Glu3559Gly) | |
2 | g.73572550A>T | CA347284682 | ALMS1 | c.10292A>T (p.Glu3431Val) c.3378A>T c.7573A>T c.4739A>T (p.Glu1580Val) c.7618A>T c.10673A>T (p.Glu3558Val) c.827A>T (p.Glu276Val) c.2029A>T c.61A>T c.1770A>T c.4164A>T (n.4164A>T) c.10547A>T (p.Glu3516Val) n.4476A>T c.10676A>T (p.Glu3559Val) | |
2 | g.73572551A>C | CA347284685 | ALMS1 | c.10293A>C (p.Glu3431Asp) c.3379A>C c.7574A>C c.4740A>C (p.Glu1580Asp) c.7619A>C c.10674A>C (p.Glu3558Asp) c.828A>C (p.Glu276Asp) c.2030A>C c.62A>C c.1771A>C c.4165A>C (n.4165A>C) c.10548A>C (p.Glu3516Asp) n.4477A>C c.10677A>C (p.Glu3559Asp) | |
2 | g.73572551A>G | CA427024149 | ALMS1 | c.10293A>G (p.Glu3431=) c.3379A>G c.7574A>G c.4740A>G (p.Glu1580=) c.7619A>G c.10674A>G (p.Glu3558=) c.828A>G (p.Glu276=) c.2030A>G c.62A>G c.1771A>G c.4165A>G (n.4165A>G) c.10548A>G (p.Glu3516=) n.4477A>G c.10677A>G (p.Glu3559=) | |
2 | g.73572551A>T | CA347284690 | ALMS1 | c.10293A>T (p.Glu3431Asp) c.3379A>T c.7574A>T c.4740A>T (p.Glu1580Asp) c.7619A>T c.10674A>T (p.Glu3558Asp) c.828A>T (p.Glu276Asp) c.2030A>T c.62A>T c.1771A>T c.4165A>T (n.4165A>T) c.10548A>T (p.Glu3516Asp) n.4477A>T c.10677A>T (p.Glu3559Asp) | |
2 | g.73572552G>A | CA347284695 | ALMS1 | c.10294G>A (p.Val3432Met) c.3380G>A c.7575G>A c.4741G>A (p.Val1581Met) c.7620G>A c.10675G>A (p.Val3559Met) c.829G>A (p.Val277Met) c.2031G>A c.63G>A c.1772G>A c.4166G>A (n.4166G>A) c.10549G>A (p.Val3517Met) n.4478G>A c.10678G>A (p.Val3560Met) | gnomAD v4 |
2 | g.73572552G>C | CA347284696 | ALMS1 | c.10294G>C (p.Val3432Leu) c.3380G>C c.7575G>C c.4741G>C (p.Val1581Leu) c.7620G>C c.10675G>C (p.Val3559Leu) c.829G>C (p.Val277Leu) c.2031G>C c.63G>C c.1772G>C c.4166G>C (n.4166G>C) c.10549G>C (p.Val3517Leu) n.4478G>C c.10678G>C (p.Val3560Leu) | |
2 | g.73572552G>T | CA347284698 | ALMS1 | c.10294G>T (p.Val3432Leu) c.3380G>T c.7575G>T c.4741G>T (p.Val1581Leu) c.7620G>T c.10675G>T (p.Val3559Leu) c.829G>T (p.Val277Leu) c.2031G>T c.63G>T c.1772G>T c.4166G>T (n.4166G>T) c.10549G>T (p.Val3517Leu) n.4478G>T c.10678G>T (p.Val3560Leu) | |
2 | g.73572552_73572553delinsGT | CA1261021266 | ALMS1 | c.10294_10295delinsGT (p.Val3432=) c.3380_3381delinsGT c.7575_7576delinsGT c.4741_4742delinsGT (p.Val1581=) c.7620_7621delinsGT c.10675_10676delinsGT (p.Val3559=) c.829_830delinsGT (p.Val277=) c.2031_2032delinsGT c.63_64delinsGT c.1772_1773delinsGT c.4166_4167delinsGT (n.4166_4167delinsGT) c.10549_10550delinsGT (p.Val3517=) n.4478_4479delinsGT c.10678_10679delinsGT (p.Val3560=) | |
2 | g.73572553del | CA915944043 | ALMS1 | c.10295del (p.Val3432GlyfsTer?) c.3381del c.7576del c.4742del (p.Val1581GlyfsTer?) c.7621del c.10676del (p.Val3559GlyfsTer?) c.830del (p.Val277GlyfsTer?) c.2032del c.64del c.1773del c.4167del (n.4167del) c.10550del (p.Val3517GlyfsTer?) n.4479del c.10679del (p.Val3560GlyfsTer?) | ClinVar dbSNP |
2 | g.73572553T>A | CA347284712 | ALMS1 | c.10295T>A (p.Val3432Glu) c.3381T>A c.7576T>A c.4742T>A (p.Val1581Glu) c.7621T>A c.10676T>A (p.Val3559Glu) c.830T>A (p.Val277Glu) c.2032T>A c.64T>A c.1773T>A c.4167T>A (n.4167T>A) c.10550T>A (p.Val3517Glu) n.4479T>A c.10679T>A (p.Val3560Glu) | |
2 | g.73572553T>C | CA1715042 | ALMS1 | c.10295T>C (p.Val3432Ala) c.3381T>C c.7576T>C c.4742T>C (p.Val1581Ala) c.7621T>C c.10676T>C (p.Val3559Ala) c.830T>C (p.Val277Ala) c.2032T>C c.64T>C c.1773T>C c.4167T>C (n.4167T>C) c.10550T>C (p.Val3517Ala) n.4479T>C c.10679T>C (p.Val3560Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572553T>G | CA347284715 | ALMS1 | c.10295T>G (p.Val3432Gly) c.3381T>G c.7576T>G c.4742T>G (p.Val1581Gly) c.7621T>G c.10676T>G (p.Val3559Gly) c.830T>G (p.Val277Gly) c.2032T>G c.64T>G c.1773T>G c.4167T>G (n.4167T>G) c.10550T>G (p.Val3517Gly) n.4479T>G c.10679T>G (p.Val3560Gly) | |
2 | g.73572553T= | CA1261021267 | ALMS1 | c.10295T= (p.Val3432=) c.3381T= c.7576T= c.4742T= (p.Val1581=) c.7621T= c.10676T= (p.Val3559=) c.830T= (p.Val277=) c.2032T= c.64T= c.1773T= c.4167T= (n.4167T=) c.10550T= (p.Val3517=) n.4479T= c.10679T= (p.Val3560=) | |
2 | g.73572554G>A | CA1715043 | ALMS1 | c.10296G>A (p.Val3432=) c.3382G>A c.7577G>A c.4743G>A (p.Val1581=) c.7622G>A c.10677G>A (p.Val3559=) c.831G>A (p.Val277=) c.2033G>A c.65G>A c.1774G>A c.4168G>A (n.4168G>A) c.10551G>A (p.Val3517=) n.4480G>A c.10680G>A (p.Val3560=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572554G>C | CA427024153 | ALMS1 | c.10296G>C (p.Val3432=) c.3382G>C c.7577G>C c.4743G>C (p.Val1581=) c.7622G>C c.10677G>C (p.Val3559=) c.831G>C (p.Val277=) c.2033G>C c.65G>C c.1774G>C c.4168G>C (n.4168G>C) c.10551G>C (p.Val3517=) n.4480G>C c.10680G>C (p.Val3560=) | |
2 | g.73572554G= | CA1261021269 | ALMS1 | c.10296G= (p.Val3432=) c.3382G= c.7577G= c.4743G= (p.Val1581=) c.7622G= c.10677G= (p.Val3559=) c.831G= (p.Val277=) c.2033G= c.65G= c.1774G= c.4168G= (n.4168G=) c.10551G= (p.Val3517=) n.4480G= c.10680G= (p.Val3560=) | |
2 | g.73572554G>T | CA427024154 | ALMS1 | c.10296G>T (p.Val3432=) c.3382G>T c.7577G>T c.4743G>T (p.Val1581=) c.7622G>T c.10677G>T (p.Val3559=) c.831G>T (p.Val277=) c.2033G>T c.65G>T c.1774G>T c.4168G>T (n.4168G>T) c.10551G>T (p.Val3517=) n.4480G>T c.10680G>T (p.Val3560=) | |
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) |