| 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.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 |