Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.73572322T>A | CA347282890 | ALMS1 | c.10064T>A (p.Phe3355Tyr) c.3150T>A c.7345T>A c.4511T>A (p.Phe1504Tyr) c.7390T>A c.10445T>A (p.Phe3482Tyr) c.599T>A (p.Phe200Tyr) c.1801T>A c.1542T>A c.3936T>A (n.3936T>A) c.10319T>A (p.Phe3440Tyr) n.4248T>A c.10448T>A (p.Phe3483Tyr) | |
2 | g.73572322T>C | CA347282895 | ALMS1 | c.10064T>C (p.Phe3355Ser) c.3150T>C c.7345T>C c.4511T>C (p.Phe1504Ser) c.7390T>C c.10445T>C (p.Phe3482Ser) c.599T>C (p.Phe200Ser) c.1801T>C c.1542T>C c.3936T>C (n.3936T>C) c.10319T>C (p.Phe3440Ser) n.4248T>C c.10448T>C (p.Phe3483Ser) | |
2 | g.73572322T>G | CA347282892 | ALMS1 | c.10064T>G (p.Phe3355Cys) c.3150T>G c.7345T>G c.4511T>G (p.Phe1504Cys) c.7390T>G c.10445T>G (p.Phe3482Cys) c.599T>G (p.Phe200Cys) c.1801T>G c.1542T>G c.3936T>G (n.3936T>G) c.10319T>G (p.Phe3440Cys) n.4248T>G c.10448T>G (p.Phe3483Cys) | |
2 | g.73572323T>A | CA347282899 | ALMS1 | c.10065T>A (p.Phe3355Leu) c.3151T>A c.7346T>A c.4512T>A (p.Phe1504Leu) c.7391T>A c.10446T>A (p.Phe3482Leu) c.600T>A (p.Phe200Leu) c.1802T>A c.1543T>A c.3937T>A (n.3937T>A) c.10320T>A (p.Phe3440Leu) n.4249T>A c.10449T>A (p.Phe3483Leu) | |
2 | g.73572323T>C | CA427024330 | ALMS1 | c.10065T>C (p.Phe3355=) c.3151T>C c.7346T>C c.4512T>C (p.Phe1504=) c.7391T>C c.10446T>C (p.Phe3482=) c.600T>C (p.Phe200=) c.1802T>C c.1543T>C c.3937T>C (n.3937T>C) c.10320T>C (p.Phe3440=) n.4249T>C c.10449T>C (p.Phe3483=) | |
2 | g.73572323T>G | CA347282900 | ALMS1 | c.10065T>G (p.Phe3355Leu) c.3151T>G c.7346T>G c.4512T>G (p.Phe1504Leu) c.7391T>G c.10446T>G (p.Phe3482Leu) c.600T>G (p.Phe200Leu) c.1802T>G c.1543T>G c.3937T>G (n.3937T>G) c.10320T>G (p.Phe3440Leu) n.4249T>G c.10449T>G (p.Phe3483Leu) | |
2 | g.73572323_73572327delinsTTACA | CA1261020890 | ALMS1 | c.10065_10069delinsTTACA (p.Phe3355=) c.3151_3155delinsTTACA c.7346_7350delinsTTACA c.4512_4516delinsTTACA (p.Phe1504=) c.7391_7395delinsTTACA c.10446_10450delinsTTACA (p.Phe3482=) c.600_604delinsTTACA (p.Phe200=) c.1802_1806delinsTTACA c.1543_1547delinsTTACA c.3937_3941delinsTTACA (n.3937_3941delinsTTACA) c.10320_10324delinsTTACA (p.Phe3440=) n.4249_4253delinsTTACA c.10449_10453delinsTTACA (p.Phe3483=) | |
2 | g.73572324T>A | CA347282904 | ALMS1 | c.10066T>A (p.Tyr3356Asn) c.3152T>A c.7347T>A c.4513T>A (p.Tyr1505Asn) c.7392T>A c.10447T>A (p.Tyr3483Asn) c.601T>A (p.Tyr201Asn) c.1803T>A c.1544T>A c.3938T>A (n.3938T>A) c.10321T>A (p.Tyr3441Asn) n.4250T>A c.10450T>A (p.Tyr3484Asn) | |
2 | g.73572324T>C | CA347282906 | ALMS1 | c.10066T>C (p.Tyr3356His) c.3152T>C c.7347T>C c.4513T>C (p.Tyr1505His) c.7392T>C c.10447T>C (p.Tyr3483His) c.601T>C (p.Tyr201His) c.1803T>C c.1544T>C c.3938T>C (n.3938T>C) c.10321T>C (p.Tyr3441His) n.4250T>C c.10450T>C (p.Tyr3484His) | |
2 | g.73572324T>G | CA347282908 | ALMS1 | c.10066T>G (p.Tyr3356Asp) c.3152T>G c.7347T>G c.4513T>G (p.Tyr1505Asp) c.7392T>G c.10447T>G (p.Tyr3483Asp) c.601T>G (p.Tyr201Asp) c.1803T>G c.1544T>G c.3938T>G (n.3938T>G) c.10321T>G (p.Tyr3441Asp) n.4250T>G c.10450T>G (p.Tyr3484Asp) | |
2 | g.73572325_73572328del | CA534124486 | ALMS1 | c.10067_10070del (p.Tyr3356PhefsTer24) c.3153_3156del c.7348_7351del c.4514_4517del (p.Tyr1505PhefsTer24) c.7393_7396del c.10448_10451del (p.Tyr3483PhefsTer24) c.602_605del (p.Tyr201PhefsTer24) c.1804_1807del c.1545_1548del c.3939_3942del (n.3939_3942del) c.10322_10325del (p.Tyr3441PhefsTer24) n.4251_4254del c.10451_10454del (p.Tyr3484PhefsTer24) | dbSNP gnomAD v2 |
2 | g.73572325A>C | CA347282914 | ALMS1 | c.10067A>C (p.Tyr3356Ser) c.3153A>C c.7348A>C c.4514A>C (p.Tyr1505Ser) c.7393A>C c.10448A>C (p.Tyr3483Ser) c.602A>C (p.Tyr201Ser) c.1804A>C c.1545A>C c.3939A>C (n.3939A>C) c.10322A>C (p.Tyr3441Ser) n.4251A>C c.10451A>C (p.Tyr3484Ser) | |
2 | g.73572325A>G | CA347282916 | ALMS1 | c.10067A>G (p.Tyr3356Cys) c.3153A>G c.7348A>G c.4514A>G (p.Tyr1505Cys) c.7393A>G c.10448A>G (p.Tyr3483Cys) c.602A>G (p.Tyr201Cys) c.1804A>G c.1545A>G c.3939A>G (n.3939A>G) c.10322A>G (p.Tyr3441Cys) n.4251A>G c.10451A>G (p.Tyr3484Cys) | ClinVar dbSNP gnomAD v4 |
2 | g.73572325A>T | CA347282918 | ALMS1 | c.10067A>T (p.Tyr3356Phe) c.3153A>T c.7348A>T c.4514A>T (p.Tyr1505Phe) c.7393A>T c.10448A>T (p.Tyr3483Phe) c.602A>T (p.Tyr201Phe) c.1804A>T c.1545A>T c.3939A>T (n.3939A>T) c.10322A>T (p.Tyr3441Phe) n.4251A>T c.10451A>T (p.Tyr3484Phe) | |
2 | g.73572326C>A | CA347282921 | ALMS1 | c.10068C>A (p.Tyr3356Ter) c.3154C>A c.7349C>A c.4515C>A (p.Tyr1505Ter) c.7394C>A c.10449C>A (p.Tyr3483Ter) c.603C>A (p.Tyr201Ter) c.1805C>A c.1546C>A c.3940C>A (n.3940C>A) c.10323C>A (p.Tyr3441Ter) n.4252C>A c.10452C>A (p.Tyr3484Ter) | |
2 | g.73572326C>G | CA347282923 | ALMS1 | c.10068C>G (p.Tyr3356Ter) c.3154C>G c.7349C>G c.4515C>G (p.Tyr1505Ter) c.7394C>G c.10449C>G (p.Tyr3483Ter) c.603C>G (p.Tyr201Ter) c.1805C>G c.1546C>G c.3940C>G (n.3940C>G) c.10323C>G (p.Tyr3441Ter) n.4252C>G c.10452C>G (p.Tyr3484Ter) | |
2 | g.73572326C>T | CA427024337 | ALMS1 | c.10068C>T (p.Tyr3356=) c.3154C>T c.7349C>T c.4515C>T (p.Tyr1505=) c.7394C>T c.10449C>T (p.Tyr3483=) c.603C>T (p.Tyr201=) c.1805C>T c.1546C>T c.3940C>T (n.3940C>T) c.10323C>T (p.Tyr3441=) n.4252C>T c.10452C>T (p.Tyr3484=) | gnomAD v4 |
2 | g.73572327A>C | CA347282926 | ALMS1 | c.10069A>C (p.Ile3357Leu) c.3155A>C c.7350A>C c.4516A>C (p.Ile1506Leu) c.7395A>C c.10450A>C (p.Ile3484Leu) c.604A>C (p.Ile202Leu) c.1806A>C c.1547A>C c.3941A>C (n.3941A>C) c.10324A>C (p.Ile3442Leu) n.4253A>C c.10453A>C (p.Ile3485Leu) | |
2 | g.73572327A>G | CA347282931 | ALMS1 | c.10069A>G (p.Ile3357Val) c.3155A>G c.7350A>G c.4516A>G (p.Ile1506Val) c.7395A>G c.10450A>G (p.Ile3484Val) c.604A>G (p.Ile202Val) c.1806A>G c.1547A>G c.3941A>G (n.3941A>G) c.10324A>G (p.Ile3442Val) n.4253A>G c.10453A>G (p.Ile3485Val) | |
2 | g.73572327A>T | CA347282929 | ALMS1 | c.10069A>T (p.Ile3357Phe) c.3155A>T c.7350A>T c.4516A>T (p.Ile1506Phe) c.7395A>T c.10450A>T (p.Ile3484Phe) c.604A>T (p.Ile202Phe) c.1806A>T c.1547A>T c.3941A>T (n.3941A>T) c.10324A>T (p.Ile3442Phe) n.4253A>T c.10453A>T (p.Ile3485Phe) | |
2 | g.73572328T>A | CA347282934 | ALMS1 | c.10070T>A (p.Ile3357Asn) c.3156T>A c.7351T>A c.4517T>A (p.Ile1506Asn) c.7396T>A c.10451T>A (p.Ile3484Asn) c.605T>A (p.Ile202Asn) c.1807T>A c.1548T>A c.3942T>A (n.3942T>A) c.10325T>A (p.Ile3442Asn) n.4254T>A c.10454T>A (p.Ile3485Asn) | |
2 | g.73572328T>C | CA347282936 | ALMS1 | c.10070T>C (p.Ile3357Thr) c.3156T>C c.7351T>C c.4517T>C (p.Ile1506Thr) c.7396T>C c.10451T>C (p.Ile3484Thr) c.605T>C (p.Ile202Thr) c.1807T>C c.1548T>C c.3942T>C (n.3942T>C) c.10325T>C (p.Ile3442Thr) n.4254T>C c.10454T>C (p.Ile3485Thr) | |
2 | g.73572328T>G | CA347282937 | ALMS1 | c.10070T>G (p.Ile3357Ser) c.3156T>G c.7351T>G c.4517T>G (p.Ile1506Ser) c.7396T>G c.10451T>G (p.Ile3484Ser) c.605T>G (p.Ile202Ser) c.1807T>G c.1548T>G c.3942T>G (n.3942T>G) c.10325T>G (p.Ile3442Ser) n.4254T>G c.10454T>G (p.Ile3485Ser) | |
2 | g.73572329T>A | CA427024342 | ALMS1 | c.10071T>A (p.Ile3357=) c.3157T>A c.7352T>A c.4518T>A (p.Ile1506=) c.7397T>A c.10452T>A (p.Ile3484=) c.606T>A (p.Ile202=) c.1808T>A c.1549T>A c.3943T>A (n.3943T>A) c.10326T>A (p.Ile3442=) n.4255T>A c.10455T>A (p.Ile3485=) | |
2 | g.73572329T>C | CA427024344 | ALMS1 | c.10071T>C (p.Ile3357=) c.3157T>C c.7352T>C c.4518T>C (p.Ile1506=) c.7397T>C c.10452T>C (p.Ile3484=) c.606T>C (p.Ile202=) c.1808T>C c.1549T>C c.3943T>C (n.3943T>C) c.10326T>C (p.Ile3442=) n.4255T>C c.10455T>C (p.Ile3485=) | |
2 | g.73572329T>G | CA347282941 | ALMS1 | c.10071T>G (p.Ile3357Met) c.3157T>G c.7352T>G c.4518T>G (p.Ile1506Met) c.7397T>G c.10452T>G (p.Ile3484Met) c.606T>G (p.Ile202Met) c.1808T>G c.1549T>G c.3943T>G (n.3943T>G) c.10326T>G (p.Ile3442Met) n.4255T>G c.10455T>G (p.Ile3485Met) | |
2 | g.73572330C>A | CA347282950 | ALMS1 | c.10072C>A (p.His3358Asn) c.3158C>A c.7353C>A c.4519C>A (p.His1507Asn) c.7398C>A c.10453C>A (p.His3485Asn) c.607C>A (p.His203Asn) c.1809C>A c.1550C>A c.3944C>A (n.3944C>A) c.10327C>A (p.His3443Asn) n.4256C>A c.10456C>A (p.His3486Asn) | |
2 | g.73572330C>G | CA347282945 | ALMS1 | c.10072C>G (p.His3358Asp) c.3158C>G c.7353C>G c.4519C>G (p.His1507Asp) c.7398C>G c.10453C>G (p.His3485Asp) c.607C>G (p.His203Asp) c.1809C>G c.1550C>G c.3944C>G (n.3944C>G) c.10327C>G (p.His3443Asp) n.4256C>G c.10456C>G (p.His3486Asp) | |
2 | g.73572330C>T | CA347282947 | ALMS1 | c.10072C>T (p.His3358Tyr) c.3158C>T c.7353C>T c.4519C>T (p.His1507Tyr) c.7398C>T c.10453C>T (p.His3485Tyr) c.607C>T (p.His203Tyr) c.1809C>T c.1550C>T c.3944C>T (n.3944C>T) c.10327C>T (p.His3443Tyr) n.4256C>T c.10456C>T (p.His3486Tyr) | |
2 | g.73572331A>C | CA347282952 | ALMS1 | c.10073A>C (p.His3358Pro) c.3159A>C c.7354A>C c.4520A>C (p.His1507Pro) c.7399A>C c.10454A>C (p.His3485Pro) c.608A>C (p.His203Pro) c.1810A>C c.1551A>C c.3945A>C (n.3945A>C) c.10328A>C (p.His3443Pro) n.4257A>C c.10457A>C (p.His3486Pro) | |
2 | g.73572331A>G | CA347282955 | ALMS1 | c.10073A>G (p.His3358Arg) c.3159A>G c.7354A>G c.4520A>G (p.His1507Arg) c.7399A>G c.10454A>G (p.His3485Arg) c.608A>G (p.His203Arg) c.1810A>G c.1551A>G c.3945A>G (n.3945A>G) c.10328A>G (p.His3443Arg) n.4257A>G c.10457A>G (p.His3486Arg) | ClinVar dbSNP |
2 | g.73572331A>T | CA347282957 | ALMS1 | c.10073A>T (p.His3358Leu) c.3159A>T c.7354A>T c.4520A>T (p.His1507Leu) c.7399A>T c.10454A>T (p.His3485Leu) c.608A>T (p.His203Leu) c.1810A>T c.1551A>T c.3945A>T (n.3945A>T) c.10328A>T (p.His3443Leu) n.4257A>T c.10457A>T (p.His3486Leu) | |
2 | g.73572332T>A | CA347282960 | ALMS1 | c.10074T>A (p.His3358Gln) c.3160T>A c.7355T>A c.4521T>A (p.His1507Gln) c.7400T>A c.10455T>A (p.His3485Gln) c.609T>A (p.His203Gln) c.1811T>A c.1552T>A c.3946T>A (n.3946T>A) c.10329T>A (p.His3443Gln) n.4258T>A c.10458T>A (p.His3486Gln) | |
2 | g.73572332T>C | CA427024351 | ALMS1 | c.10074T>C (p.His3358=) c.3160T>C c.7355T>C c.4521T>C (p.His1507=) c.7400T>C c.10455T>C (p.His3485=) c.609T>C (p.His203=) c.1811T>C c.1552T>C c.3946T>C (n.3946T>C) c.10329T>C (p.His3443=) n.4258T>C c.10458T>C (p.His3486=) | |
2 | g.73572332T>G | CA347282962 | ALMS1 | c.10074T>G (p.His3358Gln) c.3160T>G c.7355T>G c.4521T>G (p.His1507Gln) c.7400T>G c.10455T>G (p.His3485Gln) c.609T>G (p.His203Gln) c.1811T>G c.1552T>G c.3946T>G (n.3946T>G) c.10329T>G (p.His3443Gln) n.4258T>G c.10458T>G (p.His3486Gln) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572332T= | CA1261020895 | ALMS1 | c.10074T= (p.His3358=) c.3160T= c.7355T= c.4521T= (p.His1507=) c.7400T= c.10455T= (p.His3485=) c.609T= (p.His203=) c.1811T= c.1552T= c.3946T= (n.3946T=) c.10329T= (p.His3443=) n.4258T= c.10458T= (p.His3486=) | |
2 | g.73572332dup | CA913090897 | ALMS1 | c.10074dup (p.His3359SerfsTer8) c.3160dup c.7355dup c.4521dup (p.His1508SerfsTer8) c.7400dup c.10455dup (p.His3486SerfsTer8) c.609dup (p.His204SerfsTer8) c.1811dup c.1552dup c.3946dup (n.3946dup) c.10329dup (p.His3444SerfsTer8) n.4258dup c.10458dup (p.His3487SerfsTer8) | |
2 | g.73572333C>A | CA347282966 | ALMS1 | c.10075C>A (p.His3359Asn) c.3161C>A c.7356C>A c.4522C>A (p.His1508Asn) c.7401C>A c.10456C>A (p.His3486Asn) c.610C>A (p.His204Asn) c.1812C>A c.1553C>A c.3947C>A (n.3947C>A) c.10330C>A (p.His3444Asn) n.4259C>A c.10459C>A (p.His3487Asn) | |
2 | g.73572333C>G | CA347282968 | ALMS1 | c.10075C>G (p.His3359Asp) c.3161C>G c.7356C>G c.4522C>G (p.His1508Asp) c.7401C>G c.10456C>G (p.His3486Asp) c.610C>G (p.His204Asp) c.1812C>G c.1553C>G c.3947C>G (n.3947C>G) c.10330C>G (p.His3444Asp) n.4259C>G c.10459C>G (p.His3487Asp) | |
2 | g.73572333C>T | CA347282971 | ALMS1 | c.10075C>T (p.His3359Tyr) c.3161C>T c.7356C>T c.4522C>T (p.His1508Tyr) c.7401C>T c.10456C>T (p.His3486Tyr) c.610C>T (p.His204Tyr) c.1812C>T c.1553C>T c.3947C>T (n.3947C>T) c.10330C>T (p.His3444Tyr) n.4259C>T c.10459C>T (p.His3487Tyr) | gnomAD v4 |
2 | g.73572335_73572343dup | CA658822829 | ALMS1 | c.10077_10085dup (p.His3362_Leu3363insProValHis) c.3163_3171dup c.7358_7366dup c.4524_4532dup (p.His1511_Leu1512insProValHis) c.7403_7411dup c.10458_10466dup (p.His3489_Leu3490insProValHis) c.612_620dup (p.His207_Leu208insProValHis) c.1814_1822dup c.1555_1563dup c.3949_3957dup (n.3949_3957dup) c.10332_10340dup (p.His3447_Leu3448insProValHis) n.4261_4269dup c.10461_10469dup (p.His3490_Leu3491insProValHis) | ClinVar dbSNP |
2 | g.73572334A>C | CA347282975 | ALMS1 | c.10076A>C (p.His3359Pro) c.3162A>C c.7357A>C c.4523A>C (p.His1508Pro) c.7402A>C c.10457A>C (p.His3486Pro) c.611A>C (p.His204Pro) c.1813A>C c.1554A>C c.3948A>C (n.3948A>C) c.10331A>C (p.His3444Pro) n.4260A>C c.10460A>C (p.His3487Pro) | gnomAD v4 |
2 | g.73572334A>G | CA347282977 | ALMS1 | c.10076A>G (p.His3359Arg) c.3162A>G c.7357A>G c.4523A>G (p.His1508Arg) c.7402A>G c.10457A>G (p.His3486Arg) c.611A>G (p.His204Arg) c.1813A>G c.1554A>G c.3948A>G (n.3948A>G) c.10331A>G (p.His3444Arg) n.4260A>G c.10460A>G (p.His3487Arg) | gnomAD v4 |
2 | g.73572334A>T | CA347282980 | ALMS1 | c.10076A>T (p.His3359Leu) c.3162A>T c.7357A>T c.4523A>T (p.His1508Leu) c.7402A>T c.10457A>T (p.His3486Leu) c.611A>T (p.His204Leu) c.1813A>T c.1554A>T c.3948A>T (n.3948A>T) c.10331A>T (p.His3444Leu) n.4260A>T c.10460A>T (p.His3487Leu) | |
2 | g.73572335T>A | CA347282984 | ALMS1 | c.10077T>A (p.His3359Gln) c.3163T>A c.7358T>A c.4524T>A (p.His1508Gln) c.7403T>A c.10458T>A (p.His3486Gln) c.612T>A (p.His204Gln) c.1814T>A c.1555T>A c.3949T>A (n.3949T>A) c.10332T>A (p.His3444Gln) n.4261T>A c.10461T>A (p.His3487Gln) | |
2 | g.73572335T>C | CA427024361 | ALMS1 | c.10077T>C (p.His3359=) c.3163T>C c.7358T>C c.4524T>C (p.His1508=) c.7403T>C c.10458T>C (p.His3486=) c.612T>C (p.His204=) c.1814T>C c.1555T>C c.3949T>C (n.3949T>C) c.10332T>C (p.His3444=) n.4261T>C c.10461T>C (p.His3487=) | |
2 | g.73572335T>G | CA347282986 | ALMS1 | c.10077T>G (p.His3359Gln) c.3163T>G c.7358T>G c.4524T>G (p.His1508Gln) c.7403T>G c.10458T>G (p.His3486Gln) c.612T>G (p.His204Gln) c.1814T>G c.1555T>G c.3949T>G (n.3949T>G) c.10332T>G (p.His3444Gln) n.4261T>G c.10461T>G (p.His3487Gln) | |
2 | g.73572336C>A | CA347282990 | ALMS1 | c.10078C>A (p.Pro3360Thr) c.3164C>A c.7359C>A c.4525C>A (p.Pro1509Thr) c.7404C>A c.10459C>A (p.Pro3487Thr) c.613C>A (p.Pro205Thr) c.1815C>A c.1556C>A c.3950C>A (n.3950C>A) c.10333C>A (p.Pro3445Thr) n.4262C>A c.10462C>A (p.Pro3488Thr) | |
2 | g.73572336C= | CA1261020902 | ALMS1 | c.10078C= (p.Pro3360=) c.3164C= c.7359C= c.4525C= (p.Pro1509=) c.7404C= c.10459C= (p.Pro3487=) c.613C= (p.Pro205=) c.1815C= c.1556C= c.3950C= (n.3950C=) c.10333C= (p.Pro3445=) n.4262C= c.10462C= (p.Pro3488=) | |
2 | g.73572336C>G | CA347282994 | ALMS1 | c.10078C>G (p.Pro3360Ala) c.3164C>G c.7359C>G c.4525C>G (p.Pro1509Ala) c.7404C>G c.10459C>G (p.Pro3487Ala) c.613C>G (p.Pro205Ala) c.1815C>G c.1556C>G c.3950C>G (n.3950C>G) c.10333C>G (p.Pro3445Ala) n.4262C>G c.10462C>G (p.Pro3488Ala) | |
2 | g.73572336C>T | CA347282992 | ALMS1 | c.10078C>T (p.Pro3360Ser) c.3164C>T c.7359C>T c.4525C>T (p.Pro1509Ser) c.7404C>T c.10459C>T (p.Pro3487Ser) c.613C>T (p.Pro205Ser) c.1815C>T c.1556C>T c.3950C>T (n.3950C>T) c.10333C>T (p.Pro3445Ser) n.4262C>T c.10462C>T (p.Pro3488Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572337C>A | CA347282999 | ALMS1 | c.10079C>A (p.Pro3360His) c.3165C>A c.7360C>A c.4526C>A (p.Pro1509His) c.7405C>A c.10460C>A (p.Pro3487His) c.614C>A (p.Pro205His) c.1816C>A c.1557C>A c.3951C>A (n.3951C>A) c.10334C>A (p.Pro3445His) n.4263C>A c.10463C>A (p.Pro3488His) | |
2 | g.73572337C= | CA1261020905 | ALMS1 | c.10079C= (p.Pro3360=) c.3165C= c.7360C= c.4526C= (p.Pro1509=) c.7405C= c.10460C= (p.Pro3487=) c.614C= (p.Pro205=) c.1816C= c.1557C= c.3951C= (n.3951C=) c.10334C= (p.Pro3445=) n.4263C= c.10463C= (p.Pro3488=) | |
2 | g.73572337C>G | CA347283001 | ALMS1 | c.10079C>G (p.Pro3360Arg) c.3165C>G c.7360C>G c.4526C>G (p.Pro1509Arg) c.7405C>G c.10460C>G (p.Pro3487Arg) c.614C>G (p.Pro205Arg) c.1816C>G c.1557C>G c.3951C>G (n.3951C>G) c.10334C>G (p.Pro3445Arg) n.4263C>G c.10463C>G (p.Pro3488Arg) | |
2 | g.73572337C>T | CA347283004 | ALMS1 | c.10079C>T (p.Pro3360Leu) c.3165C>T c.7360C>T c.4526C>T (p.Pro1509Leu) c.7405C>T c.10460C>T (p.Pro3487Leu) c.614C>T (p.Pro205Leu) c.1816C>T c.1557C>T c.3951C>T (n.3951C>T) c.10334C>T (p.Pro3445Leu) n.4263C>T c.10463C>T (p.Pro3488Leu) | ClinVar dbSNP |
2 | g.73572338C>A | CA427024368 | ALMS1 | c.10080C>A (p.Pro3360=) c.3166C>A c.7361C>A c.4527C>A (p.Pro1509=) c.7406C>A c.10461C>A (p.Pro3487=) c.615C>A (p.Pro205=) c.1817C>A c.1558C>A c.3952C>A (n.3952C>A) c.10335C>A (p.Pro3445=) n.4264C>A c.10464C>A (p.Pro3488=) | ClinVar |
2 | g.73572338C= | CA1261020914 | ALMS1 | c.10080C= (p.Pro3360=) c.3166C= c.7361C= c.4527C= (p.Pro1509=) c.7406C= c.10461C= (p.Pro3487=) c.615C= (p.Pro205=) c.1817C= c.1558C= c.3952C= (n.3952C=) c.10335C= (p.Pro3445=) n.4264C= c.10464C= (p.Pro3488=) | |
2 | g.73572338C>G | CA427024370 | ALMS1 | c.10080C>G (p.Pro3360=) c.3166C>G c.7361C>G c.4527C>G (p.Pro1509=) c.7406C>G c.10461C>G (p.Pro3487=) c.615C>G (p.Pro205=) c.1817C>G c.1558C>G c.3952C>G (n.3952C>G) c.10335C>G (p.Pro3445=) n.4264C>G c.10464C>G (p.Pro3488=) | ClinVar |
2 | g.73572338C>T | CA1715007 | ALMS1 | c.10080C>T (p.Pro3360=) c.3166C>T c.7361C>T c.4527C>T (p.Pro1509=) c.7406C>T c.10461C>T (p.Pro3487=) c.615C>T (p.Pro205=) c.1817C>T c.1558C>T c.3952C>T (n.3952C>T) c.10335C>T (p.Pro3445=) n.4264C>T c.10464C>T (p.Pro3488=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572339G>A | CA347283010 | ALMS1 | c.10081G>A (p.Val3361Ile) c.3167G>A c.7362G>A c.4528G>A (p.Val1510Ile) c.7407G>A c.10462G>A (p.Val3488Ile) c.616G>A (p.Val206Ile) c.1818G>A c.1559G>A c.3953G>A (n.3953G>A) c.10336G>A (p.Val3446Ile) n.4265G>A c.10465G>A (p.Val3489Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572339G>C | CA16604695 | ALMS1 | c.10081G>C (p.Val3361Leu) c.3167G>C c.7362G>C c.4528G>C (p.Val1510Leu) c.7407G>C c.10462G>C (p.Val3488Leu) c.616G>C (p.Val206Leu) c.1818G>C c.1559G>C c.3953G>C (n.3953G>C) c.10336G>C (p.Val3446Leu) n.4265G>C c.10465G>C (p.Val3489Leu) | ClinVar dbSNP |
2 | g.73572339G= | CA1261020920 | ALMS1 | c.10081G= (p.Val3361=) c.3167G= c.7362G= c.4528G= (p.Val1510=) c.7407G= c.10462G= (p.Val3488=) c.616G= (p.Val206=) c.1818G= c.1559G= c.3953G= (n.3953G=) c.10336G= (p.Val3446=) n.4265G= c.10465G= (p.Val3489=) | |
2 | g.73572339G>T | CA347283013 | ALMS1 | c.10081G>T (p.Val3361Leu) c.3167G>T c.7362G>T c.4528G>T (p.Val1510Leu) c.7407G>T c.10462G>T (p.Val3488Leu) c.616G>T (p.Val206Leu) c.1818G>T c.1559G>T c.3953G>T (n.3953G>T) c.10336G>T (p.Val3446Leu) n.4265G>T c.10465G>T (p.Val3489Leu) | ClinVar dbSNP |
2 | g.73572340T>A | CA347283016 | ALMS1 | c.10082T>A (p.Val3361Glu) c.3168T>A c.7363T>A c.4529T>A (p.Val1510Glu) c.7408T>A c.10463T>A (p.Val3488Glu) c.617T>A (p.Val206Glu) c.1819T>A c.1560T>A c.3954T>A (n.3954T>A) c.10337T>A (p.Val3446Glu) n.4266T>A c.10466T>A (p.Val3489Glu) | |
2 | g.73572340T>C | CA347283021 | ALMS1 | c.10082T>C (p.Val3361Ala) c.3168T>C c.7363T>C c.4529T>C (p.Val1510Ala) c.7408T>C c.10463T>C (p.Val3488Ala) c.617T>C (p.Val206Ala) c.1819T>C c.1560T>C c.3954T>C (n.3954T>C) c.10337T>C (p.Val3446Ala) n.4266T>C c.10466T>C (p.Val3489Ala) | |
2 | g.73572340T>G | CA347283019 | ALMS1 | c.10082T>G (p.Val3361Gly) c.3168T>G c.7363T>G c.4529T>G (p.Val1510Gly) c.7408T>G c.10463T>G (p.Val3488Gly) c.617T>G (p.Val206Gly) c.1819T>G c.1560T>G c.3954T>G (n.3954T>G) c.10337T>G (p.Val3446Gly) n.4266T>G c.10466T>G (p.Val3489Gly) | |
2 | g.73572341A= | CA1261020928 | ALMS1 | c.10083A= (p.Val3361=) c.3169A= c.7364A= c.4530A= (p.Val1510=) c.7409A= c.10464A= (p.Val3488=) c.618A= (p.Val206=) c.1820A= c.1561A= c.3955A= (n.3955A=) c.10338A= (p.Val3446=) n.4267A= c.10467A= (p.Val3489=) | |
2 | g.73572341A>C | CA427024375 | ALMS1 | c.10083A>C (p.Val3361=) c.3169A>C c.7364A>C c.4530A>C (p.Val1510=) c.7409A>C c.10464A>C (p.Val3488=) c.618A>C (p.Val206=) c.1820A>C c.1561A>C c.3955A>C (n.3955A>C) c.10338A>C (p.Val3446=) n.4267A>C c.10467A>C (p.Val3489=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572341A>G | CA1715008 | ALMS1 | c.10083A>G (p.Val3361=) c.3169A>G c.7364A>G c.4530A>G (p.Val1510=) c.7409A>G c.10464A>G (p.Val3488=) c.618A>G (p.Val206=) c.1820A>G c.1561A>G c.3955A>G (n.3955A>G) c.10338A>G (p.Val3446=) n.4267A>G c.10467A>G (p.Val3489=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572341A>T | CA427024378 | ALMS1 | c.10083A>T (p.Val3361=) c.3169A>T c.7364A>T c.4530A>T (p.Val1510=) c.7409A>T c.10464A>T (p.Val3488=) c.618A>T (p.Val206=) c.1820A>T c.1561A>T c.3955A>T (n.3955A>T) c.10338A>T (p.Val3446=) n.4267A>T c.10467A>T (p.Val3489=) | |
2 | g.73572342del | CA2586964934 | ALMS1 | c.10084del (p.His3362ThrfsTer19) c.3170del c.7365del c.4531del (p.His1511ThrfsTer19) c.7410del c.10465del (p.His3489ThrfsTer19) c.619del (p.His207ThrfsTer19) c.1821del c.1562del c.3956del (n.3956del) c.10339del (p.His3447ThrfsTer19) n.4268del c.10468del (p.His3490ThrfsTer19) | |
2 | g.73572342C>A | CA347283027 | ALMS1 | c.10084C>A (p.His3362Asn) c.3170C>A c.7365C>A c.4531C>A (p.His1511Asn) c.7410C>A c.10465C>A (p.His3489Asn) c.619C>A (p.His207Asn) c.1821C>A c.1562C>A c.3956C>A (n.3956C>A) c.10339C>A (p.His3447Asn) n.4268C>A c.10468C>A (p.His3490Asn) | |
2 | g.73572342C>G | CA347283029 | ALMS1 | c.10084C>G (p.His3362Asp) c.3170C>G c.7365C>G c.4531C>G (p.His1511Asp) c.7410C>G c.10465C>G (p.His3489Asp) c.619C>G (p.His207Asp) c.1821C>G c.1562C>G c.3956C>G (n.3956C>G) c.10339C>G (p.His3447Asp) n.4268C>G c.10468C>G (p.His3490Asp) | |
2 | g.73572342C>T | CA347283031 | ALMS1 | c.10084C>T (p.His3362Tyr) c.3170C>T c.7365C>T c.4531C>T (p.His1511Tyr) c.7410C>T c.10465C>T (p.His3489Tyr) c.619C>T (p.His207Tyr) c.1821C>T c.1562C>T c.3956C>T (n.3956C>T) c.10339C>T (p.His3447Tyr) n.4268C>T c.10468C>T (p.His3490Tyr) | |
2 | g.73572343A>C | CA347283035 | ALMS1 | c.10085A>C (p.His3362Pro) c.3171A>C c.7366A>C c.4532A>C (p.His1511Pro) c.7411A>C c.10466A>C (p.His3489Pro) c.620A>C (p.His207Pro) c.1822A>C c.1563A>C c.3957A>C (n.3957A>C) c.10340A>C (p.His3447Pro) n.4269A>C c.10469A>C (p.His3490Pro) | |
2 | g.73572343A>G | CA347283040 | ALMS1 | c.10085A>G (p.His3362Arg) c.3171A>G c.7366A>G c.4532A>G (p.His1511Arg) c.7411A>G c.10466A>G (p.His3489Arg) c.620A>G (p.His207Arg) c.1822A>G c.1563A>G c.3957A>G (n.3957A>G) c.10340A>G (p.His3447Arg) n.4269A>G c.10469A>G (p.His3490Arg) | ClinVar |
2 | g.73572343A>T | CA347283038 | ALMS1 | c.10085A>T (p.His3362Leu) c.3171A>T c.7366A>T c.4532A>T (p.His1511Leu) c.7411A>T c.10466A>T (p.His3489Leu) c.620A>T (p.His207Leu) c.1822A>T c.1563A>T c.3957A>T (n.3957A>T) c.10340A>T (p.His3447Leu) n.4269A>T c.10469A>T (p.His3490Leu) | |
2 | g.73572344C>A | CA347283042 | ALMS1 | c.10086C>A (p.His3362Gln) c.3172C>A c.7367C>A c.4533C>A (p.His1511Gln) c.7412C>A c.10467C>A (p.His3489Gln) c.621C>A (p.His207Gln) c.1823C>A c.1564C>A c.3958C>A (n.3958C>A) c.10341C>A (p.His3447Gln) n.4270C>A c.10470C>A (p.His3490Gln) | gnomAD v4 |
2 | g.73572344C= | CA1261020937 | ALMS1 | c.10086C= (p.His3362=) c.3172C= c.7367C= c.4533C= (p.His1511=) c.7412C= c.10467C= (p.His3489=) c.621C= (p.His207=) c.1823C= c.1564C= c.3958C= (n.3958C=) c.10341C= (p.His3447=) n.4270C= c.10470C= (p.His3490=) | |
2 | g.73572344C>G | CA347283044 | ALMS1 | c.10086C>G (p.His3362Gln) c.3172C>G c.7367C>G c.4533C>G (p.His1511Gln) c.7412C>G c.10467C>G (p.His3489Gln) c.621C>G (p.His207Gln) c.1823C>G c.1564C>G c.3958C>G (n.3958C>G) c.10341C>G (p.His3447Gln) n.4270C>G c.10470C>G (p.His3490Gln) | |
2 | g.73572344C>T | CA50386155 | ALMS1 | c.10086C>T (p.His3362=) c.3172C>T c.7367C>T c.4533C>T (p.His1511=) c.7412C>T c.10467C>T (p.His3489=) c.621C>T (p.His207=) c.1823C>T c.1564C>T c.3958C>T (n.3958C>T) c.10341C>T (p.His3447=) n.4270C>T c.10470C>T (p.His3490=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572345del | CA2586964936 | ALMS1 | c.10087del (p.Leu3363TyrfsTer18) c.3173del c.7368del c.4534del (p.Leu1512TyrfsTer18) c.7413del c.10468del (p.Leu3490TyrfsTer18) c.622del (p.Leu208TyrfsTer18) c.1824del c.1565del c.3959del (n.3959del) c.10342del (p.Leu3448TyrfsTer18) n.4271del c.10471del (p.Leu3491TyrfsTer18) | |
2 | g.73572345C>A | CA347283048 | ALMS1 | c.10087C>A (p.Leu3363Ile) c.3173C>A c.7368C>A c.4534C>A (p.Leu1512Ile) c.7413C>A c.10468C>A (p.Leu3490Ile) c.622C>A (p.Leu208Ile) c.1824C>A c.1565C>A c.3959C>A (n.3959C>A) c.10342C>A (p.Leu3448Ile) n.4271C>A c.10471C>A (p.Leu3491Ile) | |
2 | g.73572345C>G | CA347283051 | ALMS1 | c.10087C>G (p.Leu3363Val) c.3173C>G c.7368C>G c.4534C>G (p.Leu1512Val) c.7413C>G c.10468C>G (p.Leu3490Val) c.622C>G (p.Leu208Val) c.1824C>G c.1565C>G c.3959C>G (n.3959C>G) c.10342C>G (p.Leu3448Val) n.4271C>G c.10471C>G (p.Leu3491Val) | |
2 | g.73572345C>T | CA427024395 | ALMS1 | c.10087C>T (p.Leu3363=) c.3173C>T c.7368C>T c.4534C>T (p.Leu1512=) c.7413C>T c.10468C>T (p.Leu3490=) c.622C>T (p.Leu208=) c.1824C>T c.1565C>T c.3959C>T (n.3959C>T) c.10342C>T (p.Leu3448=) n.4271C>T c.10471C>T (p.Leu3491=) | ClinVar |
2 | g.73572346T>A | CA347283055 | ALMS1 | c.10088T>A (p.Leu3363Gln) c.3174T>A c.7369T>A c.4535T>A (p.Leu1512Gln) c.7414T>A c.10469T>A (p.Leu3490Gln) c.623T>A (p.Leu208Gln) c.1825T>A c.1566T>A c.3960T>A (n.3960T>A) c.10343T>A (p.Leu3448Gln) n.4272T>A c.10472T>A (p.Leu3491Gln) | |
2 | g.73572346T>C | CA347283057 | ALMS1 | c.10088T>C (p.Leu3363Pro) c.3174T>C c.7369T>C c.4535T>C (p.Leu1512Pro) c.7414T>C c.10469T>C (p.Leu3490Pro) c.623T>C (p.Leu208Pro) c.1825T>C c.1566T>C c.3960T>C (n.3960T>C) c.10343T>C (p.Leu3448Pro) n.4272T>C c.10472T>C (p.Leu3491Pro) | |
2 | g.73572346T>G | CA347283060 | ALMS1 | c.10088T>G (p.Leu3363Arg) c.3174T>G c.7369T>G c.4535T>G (p.Leu1512Arg) c.7414T>G c.10469T>G (p.Leu3490Arg) c.623T>G (p.Leu208Arg) c.1825T>G c.1566T>G c.3960T>G (n.3960T>G) c.10343T>G (p.Leu3448Arg) n.4272T>G c.10472T>G (p.Leu3491Arg) | |
2 | g.73572347A>C | CA427024401 | ALMS1 | c.10089A>C (p.Leu3363=) c.3175A>C c.7370A>C c.4536A>C (p.Leu1512=) c.7415A>C c.10470A>C (p.Leu3490=) c.624A>C (p.Leu208=) c.1826A>C c.1567A>C c.3961A>C (n.3961A>C) c.10344A>C (p.Leu3448=) n.4273A>C c.10473A>C (p.Leu3491=) | |
2 | g.73572347A>G | CA427024404 | ALMS1 | c.10089A>G (p.Leu3363=) c.3175A>G c.7370A>G c.4536A>G (p.Leu1512=) c.7415A>G c.10470A>G (p.Leu3490=) c.624A>G (p.Leu208=) c.1826A>G c.1567A>G c.3961A>G (n.3961A>G) c.10344A>G (p.Leu3448=) n.4273A>G c.10473A>G (p.Leu3491=) | ClinVar dbSNP |
2 | g.73572347A>T | CA427024406 | ALMS1 | c.10089A>T (p.Leu3363=) c.3175A>T c.7370A>T c.4536A>T (p.Leu1512=) c.7415A>T c.10470A>T (p.Leu3490=) c.624A>T (p.Leu208=) c.1826A>T c.1567A>T c.3961A>T (n.3961A>T) c.10344A>T (p.Leu3448=) n.4273A>T c.10473A>T (p.Leu3491=) | |
2 | g.73572348C>A | CA347283063 | ALMS1 | c.10090C>A (p.Pro3364Thr) c.3176C>A c.7371C>A c.4537C>A (p.Pro1513Thr) c.7416C>A c.10471C>A (p.Pro3491Thr) c.625C>A (p.Pro209Thr) c.1827C>A c.1568C>A c.3962C>A (n.3962C>A) c.10345C>A (p.Pro3449Thr) n.4274C>A c.10474C>A (p.Pro3492Thr) | |
2 | g.73572348C>G | CA347283065 | ALMS1 | c.10090C>G (p.Pro3364Ala) c.3176C>G c.7371C>G c.4537C>G (p.Pro1513Ala) c.7416C>G c.10471C>G (p.Pro3491Ala) c.625C>G (p.Pro209Ala) c.1827C>G c.1568C>G c.3962C>G (n.3962C>G) c.10345C>G (p.Pro3449Ala) n.4274C>G c.10474C>G (p.Pro3492Ala) | |
2 | g.73572348C>T | CA347283068 | ALMS1 | c.10090C>T (p.Pro3364Ser) c.3176C>T c.7371C>T c.4537C>T (p.Pro1513Ser) c.7416C>T c.10471C>T (p.Pro3491Ser) c.625C>T (p.Pro209Ser) c.1827C>T c.1568C>T c.3962C>T (n.3962C>T) c.10345C>T (p.Pro3449Ser) n.4274C>T c.10474C>T (p.Pro3492Ser) | |
2 | g.73572349C>A | CA347283076 | ALMS1 | c.10091C>A (p.Pro3364Gln) c.3177C>A c.7372C>A c.4538C>A (p.Pro1513Gln) c.7417C>A c.10472C>A (p.Pro3491Gln) c.626C>A (p.Pro209Gln) c.1828C>A c.1569C>A c.3963C>A (n.3963C>A) c.10346C>A (p.Pro3449Gln) n.4275C>A c.10475C>A (p.Pro3492Gln) | gnomAD v4 |
2 | g.73572349C>G | CA347283071 | ALMS1 | c.10091C>G (p.Pro3364Arg) c.3177C>G c.7372C>G c.4538C>G (p.Pro1513Arg) c.7417C>G c.10472C>G (p.Pro3491Arg) c.626C>G (p.Pro209Arg) c.1828C>G c.1569C>G c.3963C>G (n.3963C>G) c.10346C>G (p.Pro3449Arg) n.4275C>G c.10475C>G (p.Pro3492Arg) | |
2 | g.73572349C>T | CA347283073 | ALMS1 | c.10091C>T (p.Pro3364Leu) c.3177C>T c.7372C>T c.4538C>T (p.Pro1513Leu) c.7417C>T c.10472C>T (p.Pro3491Leu) c.626C>T (p.Pro209Leu) c.1828C>T c.1569C>T c.3963C>T (n.3963C>T) c.10346C>T (p.Pro3449Leu) n.4275C>T c.10475C>T (p.Pro3492Leu) | dbSNP gnomAD v4 |
2 | g.73572350A>C | CA427024416 | ALMS1 | c.10092A>C (p.Pro3364=) c.3178A>C c.7373A>C c.4539A>C (p.Pro1513=) c.7418A>C c.10473A>C (p.Pro3491=) c.627A>C (p.Pro209=) c.1829A>C c.1570A>C c.3964A>C (n.3964A>C) c.10347A>C (p.Pro3449=) n.4276A>C c.10476A>C (p.Pro3492=) | |
2 | g.73572350A>G | CA427024417 | ALMS1 | c.10092A>G (p.Pro3364=) c.3178A>G c.7373A>G c.4539A>G (p.Pro1513=) c.7418A>G c.10473A>G (p.Pro3491=) c.627A>G (p.Pro209=) c.1829A>G c.1570A>G c.3964A>G (n.3964A>G) c.10347A>G (p.Pro3449=) n.4276A>G c.10476A>G (p.Pro3492=) | |
2 | g.73572350A>T | CA427024418 | ALMS1 | c.10092A>T (p.Pro3364=) c.3178A>T c.7373A>T c.4539A>T (p.Pro1513=) c.7418A>T c.10473A>T (p.Pro3491=) c.627A>T (p.Pro209=) c.1829A>T c.1570A>T c.3964A>T (n.3964A>T) c.10347A>T (p.Pro3449=) n.4276A>T c.10476A>T (p.Pro3492=) | |
2 | g.73572351A= | CA1261020943 | ALMS1 | c.10093A= (p.Ser3365=) c.3179A= c.7374A= c.4540A= (p.Ser1514=) c.7419A= c.10474A= (p.Ser3492=) c.628A= (p.Ser210=) c.1830A= c.1571A= c.3965A= (n.3965A=) c.10348A= (p.Ser3450=) n.4277A= c.10477A= (p.Ser3493=) | |
2 | g.73572351A>C | CA347283079 | ALMS1 | c.10093A>C (p.Ser3365Arg) c.3179A>C c.7374A>C c.4540A>C (p.Ser1514Arg) c.7419A>C c.10474A>C (p.Ser3492Arg) c.628A>C (p.Ser210Arg) c.1830A>C c.1571A>C c.3965A>C (n.3965A>C) c.10348A>C (p.Ser3450Arg) n.4277A>C c.10477A>C (p.Ser3493Arg) | |
2 | g.73572351A>G | CA1715009 | ALMS1 | c.10093A>G (p.Ser3365Gly) c.3179A>G c.7374A>G c.4540A>G (p.Ser1514Gly) c.7419A>G c.10474A>G (p.Ser3492Gly) c.628A>G (p.Ser210Gly) c.1830A>G c.1571A>G c.3965A>G (n.3965A>G) c.10348A>G (p.Ser3450Gly) n.4277A>G c.10477A>G (p.Ser3493Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572351A>T | CA347283083 | ALMS1 | c.10093A>T (p.Ser3365Cys) c.3179A>T c.7374A>T c.4540A>T (p.Ser1514Cys) c.7419A>T c.10474A>T (p.Ser3492Cys) c.628A>T (p.Ser210Cys) c.1830A>T c.1571A>T c.3965A>T (n.3965A>T) c.10348A>T (p.Ser3450Cys) n.4277A>T c.10477A>T (p.Ser3493Cys) | gnomAD v4 |
2 | g.73572352G>A | CA347283087 | ALMS1 | c.10094G>A (p.Ser3365Asn) c.3180G>A c.7375G>A c.4541G>A (p.Ser1514Asn) c.7420G>A c.10475G>A (p.Ser3492Asn) c.629G>A (p.Ser210Asn) c.1831G>A c.1572G>A c.3966G>A (n.3966G>A) c.10349G>A (p.Ser3450Asn) n.4278G>A c.10478G>A (p.Ser3493Asn) | |
2 | g.73572352G>C | CA347283089 | ALMS1 | c.10094G>C (p.Ser3365Thr) c.3180G>C c.7375G>C c.4541G>C (p.Ser1514Thr) c.7420G>C c.10475G>C (p.Ser3492Thr) c.629G>C (p.Ser210Thr) c.1831G>C c.1572G>C c.3966G>C (n.3966G>C) c.10349G>C (p.Ser3450Thr) n.4278G>C c.10478G>C (p.Ser3493Thr) | |
2 | g.73572352G>T | CA347283092 | ALMS1 | c.10094G>T (p.Ser3365Ile) c.3180G>T c.7375G>T c.4541G>T (p.Ser1514Ile) c.7420G>T c.10475G>T (p.Ser3492Ile) c.629G>T (p.Ser210Ile) c.1831G>T c.1572G>T c.3966G>T (n.3966G>T) c.10349G>T (p.Ser3450Ile) n.4278G>T c.10478G>T (p.Ser3493Ile) | |
2 | g.73572353T>A | CA347283094 | ALMS1 | c.10095T>A (p.Ser3365Arg) c.3181T>A c.7376T>A c.4542T>A (p.Ser1514Arg) c.7421T>A c.10476T>A (p.Ser3492Arg) c.630T>A (p.Ser210Arg) c.1832T>A c.1573T>A c.3967T>A (n.3967T>A) c.10350T>A (p.Ser3450Arg) n.4279T>A c.10479T>A (p.Ser3493Arg) | |
2 | g.73572353T>C | CA427024427 | ALMS1 | c.10095T>C (p.Ser3365=) c.3181T>C c.7376T>C c.4542T>C (p.Ser1514=) c.7421T>C c.10476T>C (p.Ser3492=) c.630T>C (p.Ser210=) c.1832T>C c.1573T>C c.3967T>C (n.3967T>C) c.10350T>C (p.Ser3450=) n.4279T>C c.10479T>C (p.Ser3493=) | |
2 | g.73572353T>G | CA347283096 | ALMS1 | c.10095T>G (p.Ser3365Arg) c.3181T>G c.7376T>G c.4542T>G (p.Ser1514Arg) c.7421T>G c.10476T>G (p.Ser3492Arg) c.630T>G (p.Ser210Arg) c.1832T>G c.1573T>G c.3967T>G (n.3967T>G) c.10350T>G (p.Ser3450Arg) n.4279T>G c.10479T>G (p.Ser3493Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572353T= | CA1261020946 | ALMS1 | c.10095T= (p.Ser3365=) c.3181T= c.7376T= c.4542T= (p.Ser1514=) c.7421T= c.10476T= (p.Ser3492=) c.630T= (p.Ser210=) c.1832T= c.1573T= c.3967T= (n.3967T=) c.10350T= (p.Ser3450=) n.4279T= c.10479T= (p.Ser3493=) | |
2 | g.73572354G>A | CA50386161 | ALMS1 | c.10096G>A (p.Asp3366Asn) c.3182G>A c.7377G>A c.4543G>A (p.Asp1515Asn) c.7422G>A c.10477G>A (p.Asp3493Asn) c.631G>A (p.Asp211Asn) c.1833G>A c.1574G>A c.3968G>A (n.3968G>A) c.10351G>A (p.Asp3451Asn) n.4280G>A c.10480G>A (p.Asp3494Asn) | dbSNP |
2 | g.73572354G>C | CA347283100 | ALMS1 | c.10096G>C (p.Asp3366His) c.3182G>C c.7377G>C c.4543G>C (p.Asp1515His) c.7422G>C c.10477G>C (p.Asp3493His) c.631G>C (p.Asp211His) c.1833G>C c.1574G>C c.3968G>C (n.3968G>C) c.10351G>C (p.Asp3451His) n.4280G>C c.10480G>C (p.Asp3494His) | |
2 | g.73572354G= | CA1261020951 | ALMS1 | c.10096G= (p.Asp3366=) c.3182G= c.7377G= c.4543G= (p.Asp1515=) c.7422G= c.10477G= (p.Asp3493=) c.631G= (p.Asp211=) c.1833G= c.1574G= c.3968G= (n.3968G=) c.10351G= (p.Asp3451=) n.4280G= c.10480G= (p.Asp3494=) | |
2 | g.73572354G>T | CA347283102 | ALMS1 | c.10096G>T (p.Asp3366Tyr) c.3182G>T c.7377G>T c.4543G>T (p.Asp1515Tyr) c.7422G>T c.10477G>T (p.Asp3493Tyr) c.631G>T (p.Asp211Tyr) c.1833G>T c.1574G>T c.3968G>T (n.3968G>T) c.10351G>T (p.Asp3451Tyr) n.4280G>T c.10480G>T (p.Asp3494Tyr) | |
2 | g.73572355A>C | CA347283104 | ALMS1 | c.10097A>C (p.Asp3366Ala) c.3183A>C c.7378A>C c.4544A>C (p.Asp1515Ala) c.7423A>C c.10478A>C (p.Asp3493Ala) c.632A>C (p.Asp211Ala) c.1834A>C c.1575A>C c.3969A>C (n.3969A>C) c.10352A>C (p.Asp3451Ala) n.4281A>C c.10481A>C (p.Asp3494Ala) | |
2 | g.73572355A>G | CA347283105 | ALMS1 | c.10097A>G (p.Asp3366Gly) c.3183A>G c.7378A>G c.4544A>G (p.Asp1515Gly) c.7423A>G c.10478A>G (p.Asp3493Gly) c.632A>G (p.Asp211Gly) c.1834A>G c.1575A>G c.3969A>G (n.3969A>G) c.10352A>G (p.Asp3451Gly) n.4281A>G c.10481A>G (p.Asp3494Gly) | |
2 | g.73572355A>T | CA347283108 | ALMS1 | c.10097A>T (p.Asp3366Val) c.3183A>T c.7378A>T c.4544A>T (p.Asp1515Val) c.7423A>T c.10478A>T (p.Asp3493Val) c.632A>T (p.Asp211Val) c.1834A>T c.1575A>T c.3969A>T (n.3969A>T) c.10352A>T (p.Asp3451Val) n.4281A>T c.10481A>T (p.Asp3494Val) | |
2 | g.73572356T>A | CA347283114 | ALMS1 | c.10098T>A (p.Asp3366Glu) c.3184T>A c.7379T>A c.4545T>A (p.Asp1515Glu) c.7424T>A c.10479T>A (p.Asp3493Glu) c.633T>A (p.Asp211Glu) c.1835T>A c.1576T>A c.3970T>A (n.3970T>A) c.10353T>A (p.Asp3451Glu) n.4282T>A c.10482T>A (p.Asp3494Glu) | |
2 | g.73572356T>C | CA427024440 | ALMS1 | c.10098T>C (p.Asp3366=) c.3184T>C c.7379T>C c.4545T>C (p.Asp1515=) c.7424T>C c.10479T>C (p.Asp3493=) c.633T>C (p.Asp211=) c.1835T>C c.1576T>C c.3970T>C (n.3970T>C) c.10353T>C (p.Asp3451=) n.4282T>C c.10482T>C (p.Asp3494=) | |
2 | g.73572356T>G | CA347283112 | ALMS1 | c.10098T>G (p.Asp3366Glu) c.3184T>G c.7379T>G c.4545T>G (p.Asp1515Glu) c.7424T>G c.10479T>G (p.Asp3493Glu) c.633T>G (p.Asp211Glu) c.1835T>G c.1576T>G c.3970T>G (n.3970T>G) c.10353T>G (p.Asp3451Glu) n.4282T>G c.10482T>G (p.Asp3494Glu) | |
2 | g.73572356_73572357delinsTC | CA1261020953 | ALMS1 | c.10098_10099delinsTC (p.Asp3366=) c.3184_3185delinsTC c.7379_7380delinsTC c.4545_4546delinsTC (p.Asp1515=) c.7424_7425delinsTC c.10479_10480delinsTC (p.Asp3493=) c.633_634delinsTC (p.Asp211=) c.1835_1836delinsTC c.1576_1577delinsTC c.3970_3971delinsTC (n.3970_3971delinsTC) c.10353_10354delinsTC (p.Asp3451=) n.4282_4283delinsTC c.10482_10483delinsTC (p.Asp3494=) | |
2 | g.73572357del | CA534124624 | ALMS1 | c.10099del (p.Gln3367LysfsTer14) c.3185del c.7380del c.4546del (p.Gln1516LysfsTer14) c.7425del c.10480del (p.Gln3494LysfsTer14) c.634del (p.Gln212LysfsTer14) c.1836del c.1577del c.3971del (n.3971del) c.10354del (p.Gln3452LysfsTer14) n.4283del c.10483del (p.Gln3495LysfsTer14) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572357C>A | CA347283117 | ALMS1 | c.10099C>A (p.Gln3367Lys) c.3185C>A c.7380C>A c.4546C>A (p.Gln1516Lys) c.7425C>A c.10480C>A (p.Gln3494Lys) c.634C>A (p.Gln212Lys) c.1836C>A c.1577C>A c.3971C>A (n.3971C>A) c.10354C>A (p.Gln3452Lys) n.4283C>A c.10483C>A (p.Gln3495Lys) | |
2 | g.73572357C= | CA1261020963 | ALMS1 | c.10099C= (p.Gln3367=) c.3185C= c.7380C= c.4546C= (p.Gln1516=) c.7425C= c.10480C= (p.Gln3494=) c.634C= (p.Gln212=) c.1836C= c.1577C= c.3971C= (n.3971C=) c.10354C= (p.Gln3452=) n.4283C= c.10483C= (p.Gln3495=) | |
2 | g.73572357C>G | CA1715010 | ALMS1 | c.10099C>G (p.Gln3367Glu) c.3185C>G c.7380C>G c.4546C>G (p.Gln1516Glu) c.7425C>G c.10480C>G (p.Gln3494Glu) c.634C>G (p.Gln212Glu) c.1836C>G c.1577C>G c.3971C>G (n.3971C>G) c.10354C>G (p.Gln3452Glu) n.4283C>G c.10483C>G (p.Gln3495Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572357C>T | CA277038 | ALMS1 | c.10099C>T (p.Gln3367Ter) c.3185C>T c.7380C>T c.4546C>T (p.Gln1516Ter) c.7425C>T c.10480C>T (p.Gln3494Ter) c.634C>T (p.Gln212Ter) c.1836C>T c.1577C>T c.3971C>T (n.3971C>T) c.10354C>T (p.Gln3452Ter) n.4283C>T c.10483C>T (p.Gln3495Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572358A= | CA1261020972 | ALMS1 | c.10100A= (p.Gln3367=) c.3186A= c.7381A= c.4547A= (p.Gln1516=) c.7426A= c.10481A= (p.Gln3494=) c.635A= (p.Gln212=) c.1837A= c.1578A= c.3972A= (n.3972A=) c.10355A= (p.Gln3452=) n.4284A= c.10484A= (p.Gln3495=) | |
2 | g.73572358A>C | CA347283123 | ALMS1 | c.10100A>C (p.Gln3367Pro) c.3186A>C c.7381A>C c.4547A>C (p.Gln1516Pro) c.7426A>C c.10481A>C (p.Gln3494Pro) c.635A>C (p.Gln212Pro) c.1837A>C c.1578A>C c.3972A>C (n.3972A>C) c.10355A>C (p.Gln3452Pro) n.4284A>C c.10484A>C (p.Gln3495Pro) | gnomAD v4 |
2 | g.73572358A>G | CA347283125 | ALMS1 | c.10100A>G (p.Gln3367Arg) c.3186A>G c.7381A>G c.4547A>G (p.Gln1516Arg) c.7426A>G c.10481A>G (p.Gln3494Arg) c.635A>G (p.Gln212Arg) c.1837A>G c.1578A>G c.3972A>G (n.3972A>G) c.10355A>G (p.Gln3452Arg) n.4284A>G c.10484A>G (p.Gln3495Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.73572358A>T | CA347283126 | ALMS1 | c.10100A>T (p.Gln3367Leu) c.3186A>T c.7381A>T c.4547A>T (p.Gln1516Leu) c.7426A>T c.10481A>T (p.Gln3494Leu) c.635A>T (p.Gln212Leu) c.1837A>T c.1578A>T c.3972A>T (n.3972A>T) c.10355A>T (p.Gln3452Leu) n.4284A>T c.10484A>T (p.Gln3495Leu) | |
2 | g.73572359A>C | CA347283131 | ALMS1 | c.10101A>C (p.Gln3367His) c.3187A>C c.7382A>C c.4548A>C (p.Gln1516His) c.7427A>C c.10482A>C (p.Gln3494His) c.636A>C (p.Gln212His) c.1838A>C c.1579A>C c.3973A>C (n.3973A>C) c.10356A>C (p.Gln3452His) n.4285A>C c.10485A>C (p.Gln3495His) | |
2 | g.73572359A>G | CA427024457 | ALMS1 | c.10101A>G (p.Gln3367=) c.3187A>G c.7382A>G c.4548A>G (p.Gln1516=) c.7427A>G c.10482A>G (p.Gln3494=) c.636A>G (p.Gln212=) c.1838A>G c.1579A>G c.3973A>G (n.3973A>G) c.10356A>G (p.Gln3452=) n.4285A>G c.10485A>G (p.Gln3495=) | ClinVar dbSNP |
2 | g.73572359A>T | CA347283129 | ALMS1 | c.10101A>T (p.Gln3367His) c.3187A>T c.7382A>T c.4548A>T (p.Gln1516His) c.7427A>T c.10482A>T (p.Gln3494His) c.636A>T (p.Gln212His) c.1838A>T c.1579A>T c.3973A>T (n.3973A>T) c.10356A>T (p.Gln3452His) n.4285A>T c.10485A>T (p.Gln3495His) | |
2 | g.73572360G>A | CA347283134 | ALMS1 | c.10102G>A (p.Asp3368Asn) c.3188G>A c.7383G>A c.4549G>A (p.Asp1517Asn) c.7428G>A c.10483G>A (p.Asp3495Asn) c.637G>A (p.Asp213Asn) c.1839G>A c.1580G>A c.3974G>A (n.3974G>A) c.10357G>A (p.Asp3453Asn) n.4286G>A c.10486G>A (p.Asp3496Asn) | ClinVar dbSNP gnomAD v4 |
2 | g.73572360G>C | CA50386177 | ALMS1 | c.10102G>C (p.Asp3368His) c.3188G>C c.7383G>C c.4549G>C (p.Asp1517His) c.7428G>C c.10483G>C (p.Asp3495His) c.637G>C (p.Asp213His) c.1839G>C c.1580G>C c.3974G>C (n.3974G>C) c.10357G>C (p.Asp3453His) n.4286G>C c.10486G>C (p.Asp3496His) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572360G= | CA1261020974 | ALMS1 | c.10102G= (p.Asp3368=) c.3188G= c.7383G= c.4549G= (p.Asp1517=) c.7428G= c.10483G= (p.Asp3495=) c.637G= (p.Asp213=) c.1839G= c.1580G= c.3974G= (n.3974G=) c.10357G= (p.Asp3453=) n.4286G= c.10486G= (p.Asp3496=) | |
2 | g.73572360G>T | CA347283136 | ALMS1 | c.10102G>T (p.Asp3368Tyr) c.3188G>T c.7383G>T c.4549G>T (p.Asp1517Tyr) c.7428G>T c.10483G>T (p.Asp3495Tyr) c.637G>T (p.Asp213Tyr) c.1839G>T c.1580G>T c.3974G>T (n.3974G>T) c.10357G>T (p.Asp3453Tyr) n.4286G>T c.10486G>T (p.Asp3496Tyr) | |
2 | g.73572361A= | CA1261020977 | ALMS1 | c.10103A= (p.Asp3368=) c.3189A= c.7384A= c.4550A= (p.Asp1517=) c.7429A= c.10484A= (p.Asp3495=) c.638A= (p.Asp213=) c.1840A= c.1581A= c.3975A= (n.3975A=) c.10358A= (p.Asp3453=) n.4287A= c.10487A= (p.Asp3496=) | |
2 | g.73572361A>C | CA347283139 | ALMS1 | c.10103A>C (p.Asp3368Ala) c.3189A>C c.7384A>C c.4550A>C (p.Asp1517Ala) c.7429A>C c.10484A>C (p.Asp3495Ala) c.638A>C (p.Asp213Ala) c.1840A>C c.1581A>C c.3975A>C (n.3975A>C) c.10358A>C (p.Asp3453Ala) n.4287A>C c.10487A>C (p.Asp3496Ala) | |
2 | g.73572361A>G | CA1715012 | ALMS1 | c.10103A>G (p.Asp3368Gly) c.3189A>G c.7384A>G c.4550A>G (p.Asp1517Gly) c.7429A>G c.10484A>G (p.Asp3495Gly) c.638A>G (p.Asp213Gly) c.1840A>G c.1581A>G c.3975A>G (n.3975A>G) c.10358A>G (p.Asp3453Gly) n.4287A>G c.10487A>G (p.Asp3496Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572361A>T | CA1715011 | ALMS1 | c.10103A>T (p.Asp3368Val) c.3189A>T c.7384A>T c.4550A>T (p.Asp1517Val) c.7429A>T c.10484A>T (p.Asp3495Val) c.638A>T (p.Asp213Val) c.1840A>T c.1581A>T c.3975A>T (n.3975A>T) c.10358A>T (p.Asp3453Val) n.4287A>T c.10487A>T (p.Asp3496Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572362T>A | CA347283146 | ALMS1 | c.10104T>A (p.Asp3368Glu) c.3190T>A c.7385T>A c.4551T>A (p.Asp1517Glu) c.7430T>A c.10485T>A (p.Asp3495Glu) c.639T>A (p.Asp213Glu) c.1841T>A c.1582T>A c.3976T>A (n.3976T>A) c.10359T>A (p.Asp3453Glu) n.4288T>A c.10488T>A (p.Asp3496Glu) | gnomAD v4 |
2 | g.73572362T>C | CA1715013 | ALMS1 | c.10104T>C (p.Asp3368=) c.3190T>C c.7385T>C c.4551T>C (p.Asp1517=) c.7430T>C c.10485T>C (p.Asp3495=) c.639T>C (p.Asp213=) c.1841T>C c.1582T>C c.3976T>C (n.3976T>C) c.10359T>C (p.Asp3453=) n.4288T>C c.10488T>C (p.Asp3496=) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.73572362T>G | CA347283148 | ALMS1 | c.10104T>G (p.Asp3368Glu) c.3190T>G c.7385T>G c.4551T>G (p.Asp1517Glu) c.7430T>G c.10485T>G (p.Asp3495Glu) c.639T>G (p.Asp213Glu) c.1841T>G c.1582T>G c.3976T>G (n.3976T>G) c.10359T>G (p.Asp3453Glu) n.4288T>G c.10488T>G (p.Asp3496Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572362T= | CA1261020981 | ALMS1 | c.10104T= (p.Asp3368=) c.3190T= c.7385T= c.4551T= (p.Asp1517=) c.7430T= c.10485T= (p.Asp3495=) c.639T= (p.Asp213=) c.1841T= c.1582T= c.3976T= (n.3976T=) c.10359T= (p.Asp3453=) n.4288T= c.10488T= (p.Asp3496=) | |
2 | g.73572363A= | CA1261020983 | ALMS1 | c.10105A= (p.Ile3369=) c.3191A= c.7386A= c.4552A= (p.Ile1518=) c.7431A= c.10486A= (p.Ile3496=) c.640A= (p.Ile214=) c.1842A= c.1583A= c.3977A= (n.3977A=) c.10360A= (p.Ile3454=) n.4289A= c.10489A= (p.Ile3497=) | |
2 | g.73572363A>C | CA347283154 | ALMS1 | c.10105A>C (p.Ile3369Leu) c.3191A>C c.7386A>C c.4552A>C (p.Ile1518Leu) c.7431A>C c.10486A>C (p.Ile3496Leu) c.640A>C (p.Ile214Leu) c.1842A>C c.1583A>C c.3977A>C (n.3977A>C) c.10360A>C (p.Ile3454Leu) n.4289A>C c.10489A>C (p.Ile3497Leu) | |
2 | g.73572363A>G | CA347283156 | ALMS1 | c.10105A>G (p.Ile3369Val) c.3191A>G c.7386A>G c.4552A>G (p.Ile1518Val) c.7431A>G c.10486A>G (p.Ile3496Val) c.640A>G (p.Ile214Val) c.1842A>G c.1583A>G c.3977A>G (n.3977A>G) c.10360A>G (p.Ile3454Val) n.4289A>G c.10489A>G (p.Ile3497Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572363A>T | CA347283158 | ALMS1 | c.10105A>T (p.Ile3369Phe) c.3191A>T c.7386A>T c.4552A>T (p.Ile1518Phe) c.7431A>T c.10486A>T (p.Ile3496Phe) c.640A>T (p.Ile214Phe) c.1842A>T c.1583A>T c.3977A>T (n.3977A>T) c.10360A>T (p.Ile3454Phe) n.4289A>T c.10489A>T (p.Ile3497Phe) | |
2 | g.73572364T>A | CA347283161 | ALMS1 | c.10106T>A (p.Ile3369Asn) c.3192T>A c.7387T>A c.4553T>A (p.Ile1518Asn) c.7432T>A c.10487T>A (p.Ile3496Asn) c.641T>A (p.Ile214Asn) c.1843T>A c.1584T>A c.3978T>A (n.3978T>A) c.10361T>A (p.Ile3454Asn) n.4290T>A c.10490T>A (p.Ile3497Asn) | |
2 | g.73572364T>C | CA347283163 | ALMS1 | c.10106T>C (p.Ile3369Thr) c.3192T>C c.7387T>C c.4553T>C (p.Ile1518Thr) c.7432T>C c.10487T>C (p.Ile3496Thr) c.641T>C (p.Ile214Thr) c.1843T>C c.1584T>C c.3978T>C (n.3978T>C) c.10361T>C (p.Ile3454Thr) n.4290T>C c.10490T>C (p.Ile3497Thr) | |
2 | g.73572364T>G | CA347283166 | ALMS1 | c.10106T>G (p.Ile3369Ser) c.3192T>G c.7387T>G c.4553T>G (p.Ile1518Ser) c.7432T>G c.10487T>G (p.Ile3496Ser) c.641T>G (p.Ile214Ser) c.1843T>G c.1584T>G c.3978T>G (n.3978T>G) c.10361T>G (p.Ile3454Ser) n.4290T>G c.10490T>G (p.Ile3497Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572364T= | CA1261020985 | ALMS1 | c.10106T= (p.Ile3369=) c.3192T= c.7387T= c.4553T= (p.Ile1518=) c.7432T= c.10487T= (p.Ile3496=) c.641T= (p.Ile214=) c.1843T= c.1584T= c.3978T= (n.3978T=) c.10361T= (p.Ile3454=) n.4290T= c.10490T= (p.Ile3497=) | |
2 | g.73572365T>A | CA427024487 | ALMS1 | c.10107T>A (p.Ile3369=) c.3193T>A c.7388T>A c.4554T>A (p.Ile1518=) c.7433T>A c.10488T>A (p.Ile3496=) c.642T>A (p.Ile214=) c.1844T>A c.1585T>A c.3979T>A (n.3979T>A) c.10362T>A (p.Ile3454=) n.4291T>A c.10491T>A (p.Ile3497=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572365T>C | CA427024488 | ALMS1 | c.10107T>C (p.Ile3369=) c.3193T>C c.7388T>C c.4554T>C (p.Ile1518=) c.7433T>C c.10488T>C (p.Ile3496=) c.642T>C (p.Ile214=) c.1844T>C c.1585T>C c.3979T>C (n.3979T>C) c.10362T>C (p.Ile3454=) n.4291T>C c.10491T>C (p.Ile3497=) | |
2 | g.73572365T>G | CA347283169 | ALMS1 | c.10107T>G (p.Ile3369Met) c.3193T>G c.7388T>G c.4554T>G (p.Ile1518Met) c.7433T>G c.10488T>G (p.Ile3496Met) c.642T>G (p.Ile214Met) c.1844T>G c.1585T>G c.3979T>G (n.3979T>G) c.10362T>G (p.Ile3454Met) n.4291T>G c.10491T>G (p.Ile3497Met) | |
2 | g.73572365T= | CA1261020988 | ALMS1 | c.10107T= (p.Ile3369=) c.3193T= c.7388T= c.4554T= (p.Ile1518=) c.7433T= c.10488T= (p.Ile3496=) c.642T= (p.Ile214=) c.1844T= c.1585T= c.3979T= (n.3979T=) c.10362T= (p.Ile3454=) n.4291T= c.10491T= (p.Ile3497=) | |
2 | g.73572366T>A | CA347283172 | ALMS1 | c.10108T>A (p.Cys3370Ser) c.3194T>A c.7389T>A c.4555T>A (p.Cys1519Ser) c.7434T>A c.10489T>A (p.Cys3497Ser) c.643T>A (p.Cys215Ser) c.1845T>A c.1586T>A c.3980T>A (n.3980T>A) c.10363T>A (p.Cys3455Ser) n.4292T>A c.10492T>A (p.Cys3498Ser) | |
2 | g.73572366T>C | CA347283175 | ALMS1 | c.10108T>C (p.Cys3370Arg) c.3194T>C c.7389T>C c.4555T>C (p.Cys1519Arg) c.7434T>C c.10489T>C (p.Cys3497Arg) c.643T>C (p.Cys215Arg) c.1845T>C c.1586T>C c.3980T>C (n.3980T>C) c.10363T>C (p.Cys3455Arg) n.4292T>C c.10492T>C (p.Cys3498Arg) | |
2 | g.73572366T>G | CA347283177 | ALMS1 | c.10108T>G (p.Cys3370Gly) c.3194T>G c.7389T>G c.4555T>G (p.Cys1519Gly) c.7434T>G c.10489T>G (p.Cys3497Gly) c.643T>G (p.Cys215Gly) c.1845T>G c.1586T>G c.3980T>G (n.3980T>G) c.10363T>G (p.Cys3455Gly) n.4292T>G c.10492T>G (p.Cys3498Gly) | |
2 | g.73572367G>A | CA347283180 | ALMS1 | c.10109G>A (p.Cys3370Tyr) c.3195G>A c.7390G>A c.4556G>A (p.Cys1519Tyr) c.7435G>A c.10490G>A (p.Cys3497Tyr) c.644G>A (p.Cys215Tyr) c.1846G>A c.1587G>A c.3981G>A (n.3981G>A) c.10364G>A (p.Cys3455Tyr) n.4293G>A c.10493G>A (p.Cys3498Tyr) | ClinVar gnomAD v4 |
2 | g.73572367G>C | CA347283183 | ALMS1 | c.10109G>C (p.Cys3370Ser) c.3195G>C c.7390G>C c.4556G>C (p.Cys1519Ser) c.7435G>C c.10490G>C (p.Cys3497Ser) c.644G>C (p.Cys215Ser) c.1846G>C c.1587G>C c.3981G>C (n.3981G>C) c.10364G>C (p.Cys3455Ser) n.4293G>C c.10493G>C (p.Cys3498Ser) | ClinVar gnomAD v4 |
2 | g.73572367G>T | CA347283185 | ALMS1 | c.10109G>T (p.Cys3370Phe) c.3195G>T c.7390G>T c.4556G>T (p.Cys1519Phe) c.7435G>T c.10490G>T (p.Cys3497Phe) c.644G>T (p.Cys215Phe) c.1846G>T c.1587G>T c.3981G>T (n.3981G>T) c.10364G>T (p.Cys3455Phe) n.4293G>T c.10493G>T (p.Cys3498Phe) | |
2 | g.73572368C>A | CA347283191 | ALMS1 | c.10110C>A (p.Cys3370Ter) c.3196C>A c.7391C>A c.4557C>A (p.Cys1519Ter) c.7436C>A c.10491C>A (p.Cys3497Ter) c.645C>A (p.Cys215Ter) c.1847C>A c.1588C>A c.3982C>A (n.3982C>A) c.10365C>A (p.Cys3455Ter) n.4294C>A c.10494C>A (p.Cys3498Ter) | |
2 | g.73572368C>G | CA347283188 | ALMS1 | c.10110C>G (p.Cys3370Trp) c.3196C>G c.7391C>G c.4557C>G (p.Cys1519Trp) c.7436C>G c.10491C>G (p.Cys3497Trp) c.645C>G (p.Cys215Trp) c.1847C>G c.1588C>G c.3982C>G (n.3982C>G) c.10365C>G (p.Cys3455Trp) n.4294C>G c.10494C>G (p.Cys3498Trp) | |
2 | g.73572368C>T | CA427024492 | ALMS1 | c.10110C>T (p.Cys3370=) c.3196C>T c.7391C>T c.4557C>T (p.Cys1519=) c.7436C>T c.10491C>T (p.Cys3497=) c.645C>T (p.Cys215=) c.1847C>T c.1588C>T c.3982C>T (n.3982C>T) c.10365C>T (p.Cys3455=) n.4294C>T c.10494C>T (p.Cys3498=) | |
2 | g.73572369C>A | CA347283195 | ALMS1 | c.10111C>A (p.His3371Asn) c.3197C>A c.7392C>A c.4558C>A (p.His1520Asn) c.7437C>A c.10492C>A (p.His3498Asn) c.646C>A (p.His216Asn) c.1848C>A c.1589C>A c.3983C>A (n.3983C>A) c.10366C>A (p.His3456Asn) n.4295C>A c.10495C>A (p.His3499Asn) | |
2 | g.73572369C= | CA1261020991 | ALMS1 | c.10111C= (p.His3371=) c.3197C= c.7392C= c.4558C= (p.His1520=) c.7437C= c.10492C= (p.His3498=) c.646C= (p.His216=) c.1848C= c.1589C= c.3983C= (n.3983C=) c.10366C= (p.His3456=) n.4295C= c.10495C= (p.His3499=) | |
2 | g.73572369C>G | CA347283197 | ALMS1 | c.10111C>G (p.His3371Asp) c.3197C>G c.7392C>G c.4558C>G (p.His1520Asp) c.7437C>G c.10492C>G (p.His3498Asp) c.646C>G (p.His216Asp) c.1848C>G c.1589C>G c.3983C>G (n.3983C>G) c.10366C>G (p.His3456Asp) n.4295C>G c.10495C>G (p.His3499Asp) | |
2 | g.73572369C>T | CA347283199 | ALMS1 | c.10111C>T (p.His3371Tyr) c.3197C>T c.7392C>T c.4558C>T (p.His1520Tyr) c.7437C>T c.10492C>T (p.His3498Tyr) c.646C>T (p.His216Tyr) c.1848C>T c.1589C>T c.3983C>T (n.3983C>T) c.10366C>T (p.His3456Tyr) n.4295C>T c.10495C>T (p.His3499Tyr) | dbSNP |
2 | g.73572370A= | CA1261020996 | ALMS1 | c.10112A= (p.His3371=) c.3198A= c.7393A= c.4559A= (p.His1520=) c.7438A= c.10493A= (p.His3498=) c.647A= (p.His216=) c.1849A= c.1590A= c.3984A= (n.3984A=) c.10367A= (p.His3456=) n.4296A= c.10496A= (p.His3499=) | |
2 | g.73572370A>C | CA347283202 | ALMS1 | c.10112A>C (p.His3371Pro) c.3198A>C c.7393A>C c.4559A>C (p.His1520Pro) c.7438A>C c.10493A>C (p.His3498Pro) c.647A>C (p.His216Pro) c.1849A>C c.1590A>C c.3984A>C (n.3984A>C) c.10367A>C (p.His3456Pro) n.4296A>C c.10496A>C (p.His3499Pro) | |
2 | g.73572370A>G | CA1715014 | ALMS1 | c.10112A>G (p.His3371Arg) c.3198A>G c.7393A>G c.4559A>G (p.His1520Arg) c.7438A>G c.10493A>G (p.His3498Arg) c.647A>G (p.His216Arg) c.1849A>G c.1590A>G c.3984A>G (n.3984A>G) c.10367A>G (p.His3456Arg) n.4296A>G c.10496A>G (p.His3499Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572370A>T | CA347283206 | ALMS1 | c.10112A>T (p.His3371Leu) c.3198A>T c.7393A>T c.4559A>T (p.His1520Leu) c.7438A>T c.10493A>T (p.His3498Leu) c.647A>T (p.His216Leu) c.1849A>T c.1590A>T c.3984A>T (n.3984A>T) c.10367A>T (p.His3456Leu) n.4296A>T c.10496A>T (p.His3499Leu) | |
2 | g.73572371T>A | CA347283210 | ALMS1 | c.10113T>A (p.His3371Gln) c.3199T>A c.7394T>A c.4560T>A (p.His1520Gln) c.7439T>A c.10494T>A (p.His3498Gln) c.648T>A (p.His216Gln) c.1850T>A c.1591T>A c.3985T>A (n.3985T>A) c.10368T>A (p.His3456Gln) n.4297T>A c.10497T>A (p.His3499Gln) | |
2 | g.73572371T>C | CA1715015 | ALMS1 | c.10113T>C (p.His3371=) c.3199T>C c.7394T>C c.4560T>C (p.His1520=) c.7439T>C c.10494T>C (p.His3498=) c.648T>C (p.His216=) c.1850T>C c.1591T>C c.3985T>C (n.3985T>C) c.10368T>C (p.His3456=) n.4297T>C c.10497T>C (p.His3499=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572371T>G | CA347283214 | ALMS1 | c.10113T>G (p.His3371Gln) c.3199T>G c.7394T>G c.4560T>G (p.His1520Gln) c.7439T>G c.10494T>G (p.His3498Gln) c.648T>G (p.His216Gln) c.1850T>G c.1591T>G c.3985T>G (n.3985T>G) c.10368T>G (p.His3456Gln) n.4297T>G c.10497T>G (p.His3499Gln) | |
2 | g.73572371T= | CA1261020999 | ALMS1 | c.10113T= (p.His3371=) c.3199T= c.7394T= c.4560T= (p.His1520=) c.7439T= c.10494T= (p.His3498=) c.648T= (p.His216=) c.1850T= c.1591T= c.3985T= (n.3985T=) c.10368T= (p.His3456=) n.4297T= c.10497T= (p.His3499=) | |
2 | g.73572372G>A | CA347283218 | ALMS1 | c.10114G>A (p.Glu3372Lys) c.3200G>A c.7395G>A c.4561G>A (p.Glu1521Lys) c.7440G>A c.10495G>A (p.Glu3499Lys) c.649G>A (p.Glu217Lys) c.1851G>A c.1592G>A c.3986G>A (n.3986G>A) c.10369G>A (p.Glu3457Lys) n.4298G>A c.10498G>A (p.Glu3500Lys) | |
2 | g.73572372G>C | CA347283220 | ALMS1 | c.10114G>C (p.Glu3372Gln) c.3200G>C c.7395G>C c.4561G>C (p.Glu1521Gln) c.7440G>C c.10495G>C (p.Glu3499Gln) c.649G>C (p.Glu217Gln) c.1851G>C c.1592G>C c.3986G>C (n.3986G>C) c.10369G>C (p.Glu3457Gln) n.4298G>C c.10498G>C (p.Glu3500Gln) | |
2 | g.73572372G>T | CA347283222 | ALMS1 | c.10114G>T (p.Glu3372Ter) c.3200G>T c.7395G>T c.4561G>T (p.Glu1521Ter) c.7440G>T c.10495G>T (p.Glu3499Ter) c.649G>T (p.Glu217Ter) c.1851G>T c.1592G>T c.3986G>T (n.3986G>T) c.10369G>T (p.Glu3457Ter) n.4298G>T c.10498G>T (p.Glu3500Ter) | |
2 | g.73572373A= | CA1261021003 | ALMS1 | c.10115A= (p.Glu3372=) c.3201A= c.7396A= c.4562A= (p.Glu1521=) c.7441A= c.10496A= (p.Glu3499=) c.650A= (p.Glu217=) c.1852A= c.1593A= c.3987A= (n.3987A=) c.10370A= (p.Glu3457=) n.4299A= c.10499A= (p.Glu3500=) | |
2 | g.73572373A>C | CA347283226 | ALMS1 | c.10115A>C (p.Glu3372Ala) c.3201A>C c.7396A>C c.4562A>C (p.Glu1521Ala) c.7441A>C c.10496A>C (p.Glu3499Ala) c.650A>C (p.Glu217Ala) c.1852A>C c.1593A>C c.3987A>C (n.3987A>C) c.10370A>C (p.Glu3457Ala) n.4299A>C c.10499A>C (p.Glu3500Ala) | |
2 | g.73572373A>G | CA347283229 | ALMS1 | c.10115A>G (p.Glu3372Gly) c.3201A>G c.7396A>G c.4562A>G (p.Glu1521Gly) c.7441A>G c.10496A>G (p.Glu3499Gly) c.650A>G (p.Glu217Gly) c.1852A>G c.1593A>G c.3987A>G (n.3987A>G) c.10370A>G (p.Glu3457Gly) n.4299A>G c.10499A>G (p.Glu3500Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572373A>T | CA50386204 | ALMS1 | c.10115A>T (p.Glu3372Val) c.3201A>T c.7396A>T c.4562A>T (p.Glu1521Val) c.7441A>T c.10496A>T (p.Glu3499Val) c.650A>T (p.Glu217Val) c.1852A>T c.1593A>T c.3987A>T (n.3987A>T) c.10370A>T (p.Glu3457Val) n.4299A>T c.10499A>T (p.Glu3500Val) | dbSNP |
2 | g.73572374A= | CA1261021009 | ALMS1 | c.10116A= (p.Glu3372=) c.3202A= c.7397A= c.4563A= (p.Glu1521=) c.7442A= c.10497A= (p.Glu3499=) c.651A= (p.Glu217=) c.1853A= c.1594A= c.3988A= (n.3988A=) c.10371A= (p.Glu3457=) n.4300A= c.10500A= (p.Glu3500=) | |
2 | g.73572374A>C | CA347283233 | ALMS1 | c.10116A>C (p.Glu3372Asp) c.3202A>C c.7397A>C c.4563A>C (p.Glu1521Asp) c.7442A>C c.10497A>C (p.Glu3499Asp) c.651A>C (p.Glu217Asp) c.1853A>C c.1594A>C c.3988A>C (n.3988A>C) c.10371A>C (p.Glu3457Asp) n.4300A>C c.10500A>C (p.Glu3500Asp) | |
2 | g.73572374A>G | CA427024521 | ALMS1 | c.10116A>G (p.Glu3372=) c.3202A>G c.7397A>G c.4563A>G (p.Glu1521=) c.7442A>G c.10497A>G (p.Glu3499=) c.651A>G (p.Glu217=) c.1853A>G c.1594A>G c.3988A>G (n.3988A>G) c.10371A>G (p.Glu3457=) n.4300A>G c.10500A>G (p.Glu3500=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572374A>T | CA347283235 | ALMS1 | c.10116A>T (p.Glu3372Asp) c.3202A>T c.7397A>T c.4563A>T (p.Glu1521Asp) c.7442A>T c.10497A>T (p.Glu3499Asp) c.651A>T (p.Glu217Asp) c.1853A>T c.1594A>T c.3988A>T (n.3988A>T) c.10371A>T (p.Glu3457Asp) n.4300A>T c.10500A>T (p.Glu3500Asp) | |
2 | g.73572375T>A | CA347283239 | ALMS1 | c.10117T>A (p.Ser3373Thr) c.3203T>A c.7398T>A c.4564T>A (p.Ser1522Thr) c.7443T>A c.10498T>A (p.Ser3500Thr) c.652T>A (p.Ser218Thr) c.1854T>A c.1595T>A c.3989T>A (n.3989T>A) c.10372T>A (p.Ser3458Thr) n.4301T>A c.10501T>A (p.Ser3501Thr) | |
2 | g.73572375T>C | CA347283243 | ALMS1 | c.10117T>C (p.Ser3373Pro) c.3203T>C c.7398T>C c.4564T>C (p.Ser1522Pro) c.7443T>C c.10498T>C (p.Ser3500Pro) c.652T>C (p.Ser218Pro) c.1854T>C c.1595T>C c.3989T>C (n.3989T>C) c.10372T>C (p.Ser3458Pro) n.4301T>C c.10501T>C (p.Ser3501Pro) | |
2 | g.73572375T>G | CA347283241 | ALMS1 | c.10117T>G (p.Ser3373Ala) c.3203T>G c.7398T>G c.4564T>G (p.Ser1522Ala) c.7443T>G c.10498T>G (p.Ser3500Ala) c.652T>G (p.Ser218Ala) c.1854T>G c.1595T>G c.3989T>G (n.3989T>G) c.10372T>G (p.Ser3458Ala) n.4301T>G c.10501T>G (p.Ser3501Ala) | |
2 | g.73572376C>A | CA347283245 | ALMS1 | c.10118C>A (p.Ser3373Tyr) c.3204C>A c.7399C>A c.4565C>A (p.Ser1522Tyr) c.7444C>A c.10499C>A (p.Ser3500Tyr) c.653C>A (p.Ser218Tyr) c.1855C>A c.1596C>A c.3990C>A (n.3990C>A) c.10373C>A (p.Ser3458Tyr) n.4302C>A c.10502C>A (p.Ser3501Tyr) | |
2 | g.73572376C= | CA1261021012 | ALMS1 | c.10118C= (p.Ser3373=) c.3204C= c.7399C= c.4565C= (p.Ser1522=) c.7444C= c.10499C= (p.Ser3500=) c.653C= (p.Ser218=) c.1855C= c.1596C= c.3990C= (n.3990C=) c.10373C= (p.Ser3458=) n.4302C= c.10502C= (p.Ser3501=) | |
2 | g.73572376C>G | CA50386208 | ALMS1 | c.10118C>G (p.Ser3373Cys) c.3204C>G c.7399C>G c.4565C>G (p.Ser1522Cys) c.7444C>G c.10499C>G (p.Ser3500Cys) c.653C>G (p.Ser218Cys) c.1855C>G c.1596C>G c.3990C>G (n.3990C>G) c.10373C>G (p.Ser3458Cys) n.4302C>G c.10502C>G (p.Ser3501Cys) | dbSNP gnomAD v4 |
2 | g.73572376C>T | CA347283248 | ALMS1 | c.10118C>T (p.Ser3373Phe) c.3204C>T c.7399C>T c.4565C>T (p.Ser1522Phe) c.7444C>T c.10499C>T (p.Ser3500Phe) c.653C>T (p.Ser218Phe) c.1855C>T c.1596C>T c.3990C>T (n.3990C>T) c.10373C>T (p.Ser3458Phe) n.4302C>T c.10502C>T (p.Ser3501Phe) | |
2 | g.73572377T>A | CA427024527 | ALMS1 | c.10119T>A (p.Ser3373=) c.3205T>A c.7400T>A c.4566T>A (p.Ser1522=) c.7445T>A c.10500T>A (p.Ser3500=) c.654T>A (p.Ser218=) c.1856T>A c.1597T>A c.3991T>A (n.3991T>A) c.10374T>A (p.Ser3458=) n.4303T>A c.10503T>A (p.Ser3501=) | |
2 | g.73572377T>C | CA427024530 | ALMS1 | c.10119T>C (p.Ser3373=) c.3205T>C c.7400T>C c.4566T>C (p.Ser1522=) c.7445T>C c.10500T>C (p.Ser3500=) c.654T>C (p.Ser218=) c.1856T>C c.1597T>C c.3991T>C (n.3991T>C) c.10374T>C (p.Ser3458=) n.4303T>C c.10503T>C (p.Ser3501=) | |
2 | g.73572377T>G | CA427024528 | ALMS1 | c.10119T>G (p.Ser3373=) c.3205T>G c.7400T>G c.4566T>G (p.Ser1522=) c.7445T>G c.10500T>G (p.Ser3500=) c.654T>G (p.Ser218=) c.1856T>G c.1597T>G c.3991T>G (n.3991T>G) c.10374T>G (p.Ser3458=) n.4303T>G c.10503T>G (p.Ser3501=) | |
2 | g.73572378T>A | CA1715016 | ALMS1 | c.10120T>A (p.Leu3374Met) c.3206T>A c.7401T>A c.4567T>A (p.Leu1523Met) c.7446T>A c.10501T>A (p.Leu3501Met) c.655T>A (p.Leu219Met) c.1857T>A c.1598T>A c.3992T>A (n.3992T>A) c.10375T>A (p.Leu3459Met) n.4304T>A c.10504T>A (p.Leu3502Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572378T>C | CA427024534 | ALMS1 | c.10120T>C (p.Leu3374=) c.3206T>C c.7401T>C c.4567T>C (p.Leu1523=) c.7446T>C c.10501T>C (p.Leu3501=) c.655T>C (p.Leu219=) c.1857T>C c.1598T>C c.3992T>C (n.3992T>C) c.10375T>C (p.Leu3459=) n.4304T>C c.10504T>C (p.Leu3502=) | dbSNP |
2 | g.73572378T>G | CA347283251 | ALMS1 | c.10120T>G (p.Leu3374Val) c.3206T>G c.7401T>G c.4567T>G (p.Leu1523Val) c.7446T>G c.10501T>G (p.Leu3501Val) c.655T>G (p.Leu219Val) c.1857T>G c.1598T>G c.3992T>G (n.3992T>G) c.10375T>G (p.Leu3459Val) n.4304T>G c.10504T>G (p.Leu3502Val) | |
2 | g.73572378T= | CA1261021017 | ALMS1 | c.10120T= (p.Leu3374=) c.3206T= c.7401T= c.4567T= (p.Leu1523=) c.7446T= c.10501T= (p.Leu3501=) c.655T= (p.Leu219=) c.1857T= c.1598T= c.3992T= (n.3992T=) c.10375T= (p.Leu3459=) n.4304T= c.10504T= (p.Leu3502=) | |
2 | g.73572379T>A | CA347283255 | ALMS1 | c.10121T>A (p.Leu3374Ter) c.3207T>A c.7402T>A c.4568T>A (p.Leu1523Ter) c.7447T>A c.10502T>A (p.Leu3501Ter) c.656T>A (p.Leu219Ter) c.1858T>A c.1599T>A c.3993T>A (n.3993T>A) c.10376T>A (p.Leu3459Ter) n.4305T>A c.10505T>A (p.Leu3502Ter) | |
2 | g.73572379T>C | CA347283257 | ALMS1 | c.10121T>C (p.Leu3374Ser) c.3207T>C c.7402T>C c.4568T>C (p.Leu1523Ser) c.7447T>C c.10502T>C (p.Leu3501Ser) c.656T>C (p.Leu219Ser) c.1858T>C c.1599T>C c.3993T>C (n.3993T>C) c.10376T>C (p.Leu3459Ser) n.4305T>C c.10505T>C (p.Leu3502Ser) | |
2 | g.73572379T>G | CA347283259 | ALMS1 | c.10121T>G (p.Leu3374Trp) c.3207T>G c.7402T>G c.4568T>G (p.Leu1523Trp) c.7447T>G c.10502T>G (p.Leu3501Trp) c.656T>G (p.Leu219Trp) c.1858T>G c.1599T>G c.3993T>G (n.3993T>G) c.10376T>G (p.Leu3459Trp) n.4305T>G c.10505T>G (p.Leu3502Trp) | |
2 | g.73572380G>A | CA427024549 | ALMS1 | c.10122G>A (p.Leu3374=) c.3208G>A c.7403G>A c.4569G>A (p.Leu1523=) c.7448G>A c.10503G>A (p.Leu3501=) c.657G>A (p.Leu219=) c.1859G>A c.1600G>A c.3994G>A (n.3994G>A) c.10377G>A (p.Leu3459=) n.4306G>A c.10506G>A (p.Leu3502=) | gnomAD v4 |
2 | g.73572380G>C | CA347283262 | ALMS1 | c.10122G>C (p.Leu3374Phe) c.3208G>C c.7403G>C c.4569G>C (p.Leu1523Phe) c.7448G>C c.10503G>C (p.Leu3501Phe) c.657G>C (p.Leu219Phe) c.1859G>C c.1600G>C c.3994G>C (n.3994G>C) c.10377G>C (p.Leu3459Phe) n.4306G>C c.10506G>C (p.Leu3502Phe) | gnomAD v4 |
2 | g.73572380G>T | CA347283264 | ALMS1 | c.10122G>T (p.Leu3374Phe) c.3208G>T c.7403G>T c.4569G>T (p.Leu1523Phe) c.7448G>T c.10503G>T (p.Leu3501Phe) c.657G>T (p.Leu219Phe) c.1859G>T c.1600G>T c.3994G>T (n.3994G>T) c.10377G>T (p.Leu3459Phe) n.4306G>T c.10506G>T (p.Leu3502Phe) | |
2 | g.73572381G>A | CA347283270 | ALMS1 | c.10123G>A (p.Gly3375Arg) c.3209G>A c.7404G>A c.4570G>A (p.Gly1524Arg) c.7449G>A c.10504G>A (p.Gly3502Arg) c.658G>A (p.Gly220Arg) c.1860G>A c.1601G>A c.3995G>A (n.3995G>A) c.10378G>A (p.Gly3460Arg) n.4307G>A c.10507G>A (p.Gly3503Arg) | |
2 | g.73572381G>C | CA347283268 | ALMS1 | c.10123G>C (p.Gly3375Arg) c.3209G>C c.7404G>C c.4570G>C (p.Gly1524Arg) c.7449G>C c.10504G>C (p.Gly3502Arg) c.658G>C (p.Gly220Arg) c.1860G>C c.1601G>C c.3995G>C (n.3995G>C) c.10378G>C (p.Gly3460Arg) n.4307G>C c.10507G>C (p.Gly3503Arg) | |
2 | g.73572381G>T | CA347283267 | ALMS1 | c.10123G>T (p.Gly3375Ter) c.3209G>T c.7404G>T c.4570G>T (p.Gly1524Ter) c.7449G>T c.10504G>T (p.Gly3502Ter) c.658G>T (p.Gly220Ter) c.1860G>T c.1601G>T c.3995G>T (n.3995G>T) c.10378G>T (p.Gly3460Ter) n.4307G>T c.10507G>T (p.Gly3503Ter) | |
2 | g.73572382G>A | CA347283274 | ALMS1 | c.10124G>A (p.Gly3375Glu) c.3210G>A c.7405G>A c.4571G>A (p.Gly1524Glu) c.7450G>A c.10505G>A (p.Gly3502Glu) c.659G>A (p.Gly220Glu) c.1861G>A c.1602G>A c.3996G>A (n.3996G>A) c.10379G>A (p.Gly3460Glu) n.4308G>A c.10508G>A (p.Gly3503Glu) | gnomAD v4 |
2 | g.73572382G>C | CA347283275 | ALMS1 | c.10124G>C (p.Gly3375Ala) c.3210G>C c.7405G>C c.4571G>C (p.Gly1524Ala) c.7450G>C c.10505G>C (p.Gly3502Ala) c.659G>C (p.Gly220Ala) c.1861G>C c.1602G>C c.3996G>C (n.3996G>C) c.10379G>C (p.Gly3460Ala) n.4308G>C c.10508G>C (p.Gly3503Ala) | |
2 | g.73572382G>T | CA347283278 | ALMS1 | c.10124G>T (p.Gly3375Val) c.3210G>T c.7405G>T c.4571G>T (p.Gly1524Val) c.7450G>T c.10505G>T (p.Gly3502Val) c.659G>T (p.Gly220Val) c.1861G>T c.1602G>T c.3996G>T (n.3996G>T) c.10379G>T (p.Gly3460Val) n.4308G>T c.10508G>T (p.Gly3503Val) | |
2 | g.73572384_73572387del | CA2580068165 | ALMS1 | c.10126_10129del (p.Lys3376ValfsTer4) c.3212_3215del c.7407_7410del c.4573_4576del (p.Lys1525ValfsTer4) c.7452_7455del c.10507_10510del (p.Lys3503ValfsTer4) c.661_664del (p.Lys221ValfsTer4) c.1863_1866del c.1604_1607del c.3998_4001del (n.3998_4001del) c.10381_10384del (p.Lys3461ValfsTer4) n.4310_4313del c.10510_10513del (p.Lys3504ValfsTer4) | ClinVar gnomAD v4 |
2 | g.73572383A= | CA1261021021 | ALMS1 | c.10125A= (p.Gly3375=) c.3211A= c.7406A= c.4572A= (p.Gly1524=) c.7451A= c.10506A= (p.Gly3502=) c.660A= (p.Gly220=) c.1862A= c.1603A= c.3997A= (n.3997A=) c.10380A= (p.Gly3460=) n.4309A= c.10509A= (p.Gly3503=) | |
2 | g.73572383A>C | CA427024558 | ALMS1 | c.10125A>C (p.Gly3375=) c.3211A>C c.7406A>C c.4572A>C (p.Gly1524=) c.7451A>C c.10506A>C (p.Gly3502=) c.660A>C (p.Gly220=) c.1862A>C c.1603A>C c.3997A>C (n.3997A>C) c.10380A>C (p.Gly3460=) n.4309A>C c.10509A>C (p.Gly3503=) | |
2 | g.73572383A>G | CA427024560 | ALMS1 | c.10125A>G (p.Gly3375=) c.3211A>G c.7406A>G c.4572A>G (p.Gly1524=) c.7451A>G c.10506A>G (p.Gly3502=) c.660A>G (p.Gly220=) c.1862A>G c.1603A>G c.3997A>G (n.3997A>G) c.10380A>G (p.Gly3460=) n.4309A>G c.10509A>G (p.Gly3503=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572383A>T | CA427024561 | ALMS1 | c.10125A>T (p.Gly3375=) c.3211A>T c.7406A>T c.4572A>T (p.Gly1524=) c.7451A>T c.10506A>T (p.Gly3502=) c.660A>T (p.Gly220=) c.1862A>T c.1603A>T c.3997A>T (n.3997A>T) c.10380A>T (p.Gly3460=) n.4309A>T c.10509A>T (p.Gly3503=) | |
2 | g.73572384A>C | CA347283281 | ALMS1 | c.10126A>C (p.Lys3376Gln) c.3212A>C c.7407A>C c.4573A>C (p.Lys1525Gln) c.7452A>C c.10507A>C (p.Lys3503Gln) c.661A>C (p.Lys221Gln) c.1863A>C c.1604A>C c.3998A>C (n.3998A>C) c.10381A>C (p.Lys3461Gln) n.4310A>C c.10510A>C (p.Lys3504Gln) | |
2 | g.73572384A>G | CA347283283 | ALMS1 | c.10126A>G (p.Lys3376Glu) c.3212A>G c.7407A>G c.4573A>G (p.Lys1525Glu) c.7452A>G c.10507A>G (p.Lys3503Glu) c.661A>G (p.Lys221Glu) c.1863A>G c.1604A>G c.3998A>G (n.3998A>G) c.10381A>G (p.Lys3461Glu) n.4310A>G c.10510A>G (p.Lys3504Glu) | gnomAD v4 |
2 | g.73572384A>T | CA347283285 | ALMS1 | c.10126A>T (p.Lys3376Ter) c.3212A>T c.7407A>T c.4573A>T (p.Lys1525Ter) c.7452A>T c.10507A>T (p.Lys3503Ter) c.661A>T (p.Lys221Ter) c.1863A>T c.1604A>T c.3998A>T (n.3998A>T) c.10381A>T (p.Lys3461Ter) n.4310A>T c.10510A>T (p.Lys3504Ter) | |
2 | g.73572385A= | CA1261021024 | ALMS1 | c.10127A= (p.Lys3376=) c.3213A= c.7408A= c.4574A= (p.Lys1525=) c.7453A= c.10508A= (p.Lys3503=) c.662A= (p.Lys221=) c.1864A= c.1605A= c.3999A= (n.3999A=) c.10382A= (p.Lys3461=) n.4311A= c.10511A= (p.Lys3504=) | |
2 | g.73572385A>C | CA347283288 | ALMS1 | c.10127A>C (p.Lys3376Thr) c.3213A>C c.7408A>C c.4574A>C (p.Lys1525Thr) c.7453A>C c.10508A>C (p.Lys3503Thr) c.662A>C (p.Lys221Thr) c.1864A>C c.1605A>C c.3999A>C (n.3999A>C) c.10382A>C (p.Lys3461Thr) n.4311A>C c.10511A>C (p.Lys3504Thr) | |
2 | g.73572385A>G | CA50386217 | ALMS1 | c.10127A>G (p.Lys3376Arg) c.3213A>G c.7408A>G c.4574A>G (p.Lys1525Arg) c.7453A>G c.10508A>G (p.Lys3503Arg) c.662A>G (p.Lys221Arg) c.1864A>G c.1605A>G c.3999A>G (n.3999A>G) c.10382A>G (p.Lys3461Arg) n.4311A>G c.10511A>G (p.Lys3504Arg) | dbSNP |
2 | g.73572385A>T | CA347283293 | ALMS1 | c.10127A>T (p.Lys3376Met) c.3213A>T c.7408A>T c.4574A>T (p.Lys1525Met) c.7453A>T c.10508A>T (p.Lys3503Met) c.662A>T (p.Lys221Met) c.1864A>T c.1605A>T c.3999A>T (n.3999A>T) c.10382A>T (p.Lys3461Met) n.4311A>T c.10511A>T (p.Lys3504Met) | |
2 | g.73572386G>A | CA427024572 | ALMS1 | c.10128G>A (p.Lys3376=) c.3214G>A c.7409G>A c.4575G>A (p.Lys1525=) c.7454G>A c.10509G>A (p.Lys3503=) c.663G>A (p.Lys221=) c.1865G>A c.1606G>A c.4000G>A (n.4000G>A) c.10383G>A (p.Lys3461=) n.4312G>A c.10512G>A (p.Lys3504=) | |
2 | g.73572386G>C | CA347283296 | ALMS1 | c.10128G>C (p.Lys3376Asn) c.3214G>C c.7409G>C c.4575G>C (p.Lys1525Asn) c.7454G>C c.10509G>C (p.Lys3503Asn) c.663G>C (p.Lys221Asn) c.1865G>C c.1606G>C c.4000G>C (n.4000G>C) c.10383G>C (p.Lys3461Asn) n.4312G>C c.10512G>C (p.Lys3504Asn) | |
2 | g.73572386G>T | CA347283298 | ALMS1 | c.10128G>T (p.Lys3376Asn) c.3214G>T c.7409G>T c.4575G>T (p.Lys1525Asn) c.7454G>T c.10509G>T (p.Lys3503Asn) c.663G>T (p.Lys221Asn) c.1865G>T c.1606G>T c.4000G>T (n.4000G>T) c.10383G>T (p.Lys3461Asn) n.4312G>T c.10512G>T (p.Lys3504Asn) | |
2 | g.73572387A= | CA1261021028 | ALMS1 | c.10129A= (p.Ser3377=) c.3215A= c.7410A= c.4576A= (p.Ser1526=) c.7455A= c.10510A= (p.Ser3504=) c.664A= (p.Ser222=) c.1866A= c.1607A= c.4001A= (n.4001A=) c.10384A= (p.Ser3462=) n.4313A= c.10513A= (p.Ser3505=) | |
2 | g.73572387A>C | CA347283302 | ALMS1 | c.10129A>C (p.Ser3377Arg) c.3215A>C c.7410A>C c.4576A>C (p.Ser1526Arg) c.7455A>C c.10510A>C (p.Ser3504Arg) c.664A>C (p.Ser222Arg) c.1866A>C c.1607A>C c.4001A>C (n.4001A>C) c.10384A>C (p.Ser3462Arg) n.4313A>C c.10513A>C (p.Ser3505Arg) | |
2 | g.73572387A>G | CA347283304 | ALMS1 | c.10129A>G (p.Ser3377Gly) c.3215A>G c.7410A>G c.4576A>G (p.Ser1526Gly) c.7455A>G c.10510A>G (p.Ser3504Gly) c.664A>G (p.Ser222Gly) c.1866A>G c.1607A>G c.4001A>G (n.4001A>G) c.10384A>G (p.Ser3462Gly) n.4313A>G c.10513A>G (p.Ser3505Gly) | ClinVar dbSNP |
2 | g.73572387A>T | CA50386218 | ALMS1 | c.10129A>T (p.Ser3377Cys) c.3215A>T c.7410A>T c.4576A>T (p.Ser1526Cys) c.7455A>T c.10510A>T (p.Ser3504Cys) c.664A>T (p.Ser222Cys) c.1866A>T c.1607A>T c.4001A>T (n.4001A>T) c.10384A>T (p.Ser3462Cys) n.4313A>T c.10513A>T (p.Ser3505Cys) | dbSNP |
2 | g.73572388G>A | CA347283306 | ALMS1 | c.10130G>A (p.Ser3377Asn) c.3216G>A c.7411G>A c.4577G>A (p.Ser1526Asn) c.7456G>A c.10511G>A (p.Ser3504Asn) c.665G>A (p.Ser222Asn) c.1867G>A c.1608G>A c.4002G>A (n.4002G>A) c.10385G>A (p.Ser3462Asn) n.4314G>A c.10514G>A (p.Ser3505Asn) | ClinVar dbSNP gnomAD v4 |
2 | g.73572388G>C | CA347283309 | ALMS1 | c.10130G>C (p.Ser3377Thr) c.3216G>C c.7411G>C c.4577G>C (p.Ser1526Thr) c.7456G>C c.10511G>C (p.Ser3504Thr) c.665G>C (p.Ser222Thr) c.1867G>C c.1608G>C c.4002G>C (n.4002G>C) c.10385G>C (p.Ser3462Thr) n.4314G>C c.10514G>C (p.Ser3505Thr) | |
2 | g.73572388G= | CA1261021030 | ALMS1 | c.10130G= (p.Ser3377=) c.3216G= c.7411G= c.4577G= (p.Ser1526=) c.7456G= c.10511G= (p.Ser3504=) c.665G= (p.Ser222=) c.1867G= c.1608G= c.4002G= (n.4002G=) c.10385G= (p.Ser3462=) n.4314G= c.10514G= (p.Ser3505=) | |
2 | g.73572388G>T | CA347283311 | ALMS1 | c.10130G>T (p.Ser3377Ile) c.3216G>T c.7411G>T c.4577G>T (p.Ser1526Ile) c.7456G>T c.10511G>T (p.Ser3504Ile) c.665G>T (p.Ser222Ile) c.1867G>T c.1608G>T c.4002G>T (n.4002G>T) c.10385G>T (p.Ser3462Ile) n.4314G>T c.10514G>T (p.Ser3505Ile) | |
2 | g.73572389T>A | CA347283315 | ALMS1 | c.10131T>A (p.Ser3377Arg) c.3217T>A c.7412T>A c.4578T>A (p.Ser1526Arg) c.7457T>A c.10512T>A (p.Ser3504Arg) c.666T>A (p.Ser222Arg) c.1868T>A c.1609T>A c.4003T>A (n.4003T>A) c.10386T>A (p.Ser3462Arg) n.4315T>A c.10515T>A (p.Ser3505Arg) | |
2 | g.73572389T>C | CA427024582 | ALMS1 | c.10131T>C (p.Ser3377=) c.3217T>C c.7412T>C c.4578T>C (p.Ser1526=) c.7457T>C c.10512T>C (p.Ser3504=) c.666T>C (p.Ser222=) c.1868T>C c.1609T>C c.4003T>C (n.4003T>C) c.10386T>C (p.Ser3462=) n.4315T>C c.10515T>C (p.Ser3505=) | |
2 | g.73572389T>G | CA50386219 | ALMS1 | c.10131T>G (p.Ser3377Arg) c.3217T>G c.7412T>G c.4578T>G (p.Ser1526Arg) c.7457T>G c.10512T>G (p.Ser3504Arg) c.666T>G (p.Ser222Arg) c.1868T>G c.1609T>G c.4003T>G (n.4003T>G) c.10386T>G (p.Ser3462Arg) n.4315T>G c.10515T>G (p.Ser3505Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572389T= | CA1261021032 | ALMS1 | c.10131T= (p.Ser3377=) c.3217T= c.7412T= c.4578T= (p.Ser1526=) c.7457T= c.10512T= (p.Ser3504=) c.666T= (p.Ser222=) c.1868T= c.1609T= c.4003T= (n.4003T=) c.10386T= (p.Ser3462=) n.4315T= c.10515T= (p.Ser3505=) | |
2 | g.73572390G>A | CA347283321 | ALMS1 | c.10132G>A (p.Val3378Ile) c.3218G>A c.7413G>A c.4579G>A (p.Val1527Ile) c.7458G>A c.10513G>A (p.Val3505Ile) c.667G>A (p.Val223Ile) c.1869G>A c.1610G>A c.4004G>A (n.4004G>A) c.10387G>A (p.Val3463Ile) n.4316G>A c.10516G>A (p.Val3506Ile) | |
2 | g.73572390G>C | CA347283324 | ALMS1 | c.10132G>C (p.Val3378Leu) c.3218G>C c.7413G>C c.4579G>C (p.Val1527Leu) c.7458G>C c.10513G>C (p.Val3505Leu) c.667G>C (p.Val223Leu) c.1869G>C c.1610G>C c.4004G>C (n.4004G>C) c.10387G>C (p.Val3463Leu) n.4316G>C c.10516G>C (p.Val3506Leu) | |
2 | g.73572390G>T | CA347283326 | ALMS1 | c.10132G>T (p.Val3378Phe) c.3218G>T c.7413G>T c.4579G>T (p.Val1527Phe) c.7458G>T c.10513G>T (p.Val3505Phe) c.667G>T (p.Val223Phe) c.1869G>T c.1610G>T c.4004G>T (n.4004G>T) c.10387G>T (p.Val3463Phe) n.4316G>T c.10516G>T (p.Val3506Phe) | |
2 | g.73572391T>A | CA347283329 | ALMS1 | c.10133T>A (p.Val3378Asp) c.3219T>A c.7414T>A c.4580T>A (p.Val1527Asp) c.7459T>A c.10514T>A (p.Val3505Asp) c.668T>A (p.Val223Asp) c.1870T>A c.1611T>A c.4005T>A (n.4005T>A) c.10388T>A (p.Val3463Asp) n.4317T>A c.10517T>A (p.Val3506Asp) | |
2 | g.73572391T>C | CA347283331 | ALMS1 | c.10133T>C (p.Val3378Ala) c.3219T>C c.7414T>C c.4580T>C (p.Val1527Ala) c.7459T>C c.10514T>C (p.Val3505Ala) c.668T>C (p.Val223Ala) c.1870T>C c.1611T>C c.4005T>C (n.4005T>C) c.10388T>C (p.Val3463Ala) n.4317T>C c.10517T>C (p.Val3506Ala) | |
2 | g.73572391T>G | CA347283333 | ALMS1 | c.10133T>G (p.Val3378Gly) c.3219T>G c.7414T>G c.4580T>G (p.Val1527Gly) c.7459T>G c.10514T>G (p.Val3505Gly) c.668T>G (p.Val223Gly) c.1870T>G c.1611T>G c.4005T>G (n.4005T>G) c.10388T>G (p.Val3463Gly) n.4317T>G c.10517T>G (p.Val3506Gly) | |
2 | g.73572392T>A | CA427024594 | ALMS1 | c.10134T>A (p.Val3378=) c.3220T>A c.7415T>A c.4581T>A (p.Val1527=) c.7460T>A c.10515T>A (p.Val3505=) c.669T>A (p.Val223=) c.1871T>A c.1612T>A c.4006T>A (n.4006T>A) c.10389T>A (p.Val3463=) n.4318T>A c.10518T>A (p.Val3506=) | |
2 | g.73572392T>C | CA427024598 | ALMS1 | c.10134T>C (p.Val3378=) c.3220T>C c.7415T>C c.4581T>C (p.Val1527=) c.7460T>C c.10515T>C (p.Val3505=) c.669T>C (p.Val223=) c.1871T>C c.1612T>C c.4006T>C (n.4006T>C) c.10389T>C (p.Val3463=) n.4318T>C c.10518T>C (p.Val3506=) | |
2 | g.73572392T>G | CA427024600 | ALMS1 | c.10134T>G (p.Val3378=) c.3220T>G c.7415T>G c.4581T>G (p.Val1527=) c.7460T>G c.10515T>G (p.Val3505=) c.669T>G (p.Val223=) c.1871T>G c.1612T>G c.4006T>G (n.4006T>G) c.10389T>G (p.Val3463=) n.4318T>G c.10518T>G (p.Val3506=) | |
2 | g.73572393T>A | CA347283339 | ALMS1 | c.10135T>A (p.Phe3379Ile) c.3221T>A c.7416T>A c.4582T>A (p.Phe1528Ile) c.7461T>A c.10516T>A (p.Phe3506Ile) c.670T>A (p.Phe224Ile) c.1872T>A c.1613T>A c.4007T>A (n.4007T>A) c.10390T>A (p.Phe3464Ile) n.4319T>A c.10519T>A (p.Phe3507Ile) | |
2 | g.73572393T>C | CA347283342 | ALMS1 | c.10135T>C (p.Phe3379Leu) c.3221T>C c.7416T>C c.4582T>C (p.Phe1528Leu) c.7461T>C c.10516T>C (p.Phe3506Leu) c.670T>C (p.Phe224Leu) c.1872T>C c.1613T>C c.4007T>C (n.4007T>C) c.10390T>C (p.Phe3464Leu) n.4319T>C c.10519T>C (p.Phe3507Leu) | |
2 | g.73572393T>G | CA347283337 | ALMS1 | c.10135T>G (p.Phe3379Val) c.3221T>G c.7416T>G c.4582T>G (p.Phe1528Val) c.7461T>G c.10516T>G (p.Phe3506Val) c.670T>G (p.Phe224Val) c.1872T>G c.1613T>G c.4007T>G (n.4007T>G) c.10390T>G (p.Phe3464Val) n.4319T>G c.10519T>G (p.Phe3507Val) | |
2 | g.73572394T>A | CA347283346 | ALMS1 | c.10136T>A (p.Phe3379Tyr) c.3222T>A c.7417T>A c.4583T>A (p.Phe1528Tyr) c.7462T>A c.10517T>A (p.Phe3506Tyr) c.671T>A (p.Phe224Tyr) c.1873T>A c.1614T>A c.4008T>A (n.4008T>A) c.10391T>A (p.Phe3464Tyr) n.4320T>A c.10520T>A (p.Phe3507Tyr) | |
2 | g.73572394T>C | CA347283347 | ALMS1 | c.10136T>C (p.Phe3379Ser) c.3222T>C c.7417T>C c.4583T>C (p.Phe1528Ser) c.7462T>C c.10517T>C (p.Phe3506Ser) c.671T>C (p.Phe224Ser) c.1873T>C c.1614T>C c.4008T>C (n.4008T>C) c.10391T>C (p.Phe3464Ser) n.4320T>C c.10520T>C (p.Phe3507Ser) | |
2 | g.73572394T>G | CA347283348 | ALMS1 | c.10136T>G (p.Phe3379Cys) c.3222T>G c.7417T>G c.4583T>G (p.Phe1528Cys) c.7462T>G c.10517T>G (p.Phe3506Cys) c.671T>G (p.Phe224Cys) c.1873T>G c.1614T>G c.4008T>G (n.4008T>G) c.10391T>G (p.Phe3464Cys) n.4320T>G c.10520T>G (p.Phe3507Cys) | |
2 | g.73572395C>A | CA347283350 | ALMS1 | c.10137C>A (p.Phe3379Leu) c.3223C>A c.7418C>A c.4584C>A (p.Phe1528Leu) c.7463C>A c.10518C>A (p.Phe3506Leu) c.672C>A (p.Phe224Leu) c.1874C>A c.1615C>A c.4009C>A (n.4009C>A) c.10392C>A (p.Phe3464Leu) n.4321C>A c.10521C>A (p.Phe3507Leu) | |
2 | g.73572395C>G | CA347283353 | ALMS1 | c.10137C>G (p.Phe3379Leu) c.3223C>G c.7418C>G c.4584C>G (p.Phe1528Leu) c.7463C>G c.10518C>G (p.Phe3506Leu) c.672C>G (p.Phe224Leu) c.1874C>G c.1615C>G c.4009C>G (n.4009C>G) c.10392C>G (p.Phe3464Leu) n.4321C>G c.10521C>G (p.Phe3507Leu) | |
2 | g.73572395C>T | CA427024607 | ALMS1 | c.10137C>T (p.Phe3379=) c.3223C>T c.7418C>T c.4584C>T (p.Phe1528=) c.7463C>T c.10518C>T (p.Phe3506=) c.672C>T (p.Phe224=) c.1874C>T c.1615C>T c.4009C>T (n.4009C>T) c.10392C>T (p.Phe3464=) n.4321C>T c.10521C>T (p.Phe3507=) | |
2 | g.73572396A= | CA1261021035 | ALMS1 | c.10138A= (p.Met3380=) c.3224A= c.7419A= c.4585A= (p.Met1529=) c.7464A= c.10519A= (p.Met3507=) c.673A= (p.Met225=) c.1875A= c.1616A= c.4010A= (n.4010A=) c.10393A= (p.Met3465=) n.4322A= c.10522A= (p.Met3508=) | |
2 | g.73572396A>C | CA347283360 | ALMS1 | c.10138A>C (p.Met3380Leu) c.3224A>C c.7419A>C c.4585A>C (p.Met1529Leu) c.7464A>C c.10519A>C (p.Met3507Leu) c.673A>C (p.Met225Leu) c.1875A>C c.1616A>C c.4010A>C (n.4010A>C) c.10393A>C (p.Met3465Leu) n.4322A>C c.10522A>C (p.Met3508Leu) | gnomAD v4 |
2 | g.73572396A>G | CA347283356 | ALMS1 | c.10138A>G (p.Met3380Val) c.3224A>G c.7419A>G c.4585A>G (p.Met1529Val) c.7464A>G c.10519A>G (p.Met3507Val) c.673A>G (p.Met225Val) c.1875A>G c.1616A>G c.4010A>G (n.4010A>G) c.10393A>G (p.Met3465Val) n.4322A>G c.10522A>G (p.Met3508Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572396A>T | CA347283358 | ALMS1 | c.10138A>T (p.Met3380Leu) c.3224A>T c.7419A>T c.4585A>T (p.Met1529Leu) c.7464A>T c.10519A>T (p.Met3507Leu) c.673A>T (p.Met225Leu) c.1875A>T c.1616A>T c.4010A>T (n.4010A>T) c.10393A>T (p.Met3465Leu) n.4322A>T c.10522A>T (p.Met3508Leu) | gnomAD v4 |
2 | g.73572397T>A | CA347283364 | ALMS1 | c.10139T>A (p.Met3380Lys) c.3225T>A c.7420T>A c.4586T>A (p.Met1529Lys) c.7465T>A c.10520T>A (p.Met3507Lys) c.674T>A (p.Met225Lys) c.1876T>A c.1617T>A c.4011T>A (n.4011T>A) c.10394T>A (p.Met3465Lys) n.4323T>A c.10523T>A (p.Met3508Lys) | |
2 | g.73572397T>C | CA347283365 | ALMS1 | c.10139T>C (p.Met3380Thr) c.3225T>C c.7420T>C c.4586T>C (p.Met1529Thr) c.7465T>C c.10520T>C (p.Met3507Thr) c.674T>C (p.Met225Thr) c.1876T>C c.1617T>C c.4011T>C (n.4011T>C) c.10394T>C (p.Met3465Thr) n.4323T>C c.10523T>C (p.Met3508Thr) | |
2 | g.73572397T>G | CA347283367 | ALMS1 | c.10139T>G (p.Met3380Arg) c.3225T>G c.7420T>G c.4586T>G (p.Met1529Arg) c.7465T>G c.10520T>G (p.Met3507Arg) c.674T>G (p.Met225Arg) c.1876T>G c.1617T>G c.4011T>G (n.4011T>G) c.10394T>G (p.Met3465Arg) n.4323T>G c.10523T>G (p.Met3508Arg) | |
2 | g.73572398G>A | CA347283371 | ALMS1 | c.10140G>A (p.Met3380Ile) c.3226G>A c.7421G>A c.4587G>A (p.Met1529Ile) c.7466G>A c.10521G>A (p.Met3507Ile) c.675G>A (p.Met225Ile) c.1877G>A c.1618G>A c.4012G>A (n.4012G>A) c.10395G>A (p.Met3465Ile) n.4324G>A c.10524G>A (p.Met3508Ile) | |
2 | g.73572398G>C | CA347283373 | ALMS1 | c.10140G>C (p.Met3380Ile) c.3226G>C c.7421G>C c.4587G>C (p.Met1529Ile) c.7466G>C c.10521G>C (p.Met3507Ile) c.675G>C (p.Met225Ile) c.1877G>C c.1618G>C c.4012G>C (n.4012G>C) c.10395G>C (p.Met3465Ile) n.4324G>C c.10524G>C (p.Met3508Ile) | |
2 | g.73572398G>T | CA347283375 | ALMS1 | c.10140G>T (p.Met3380Ile) c.3226G>T c.7421G>T c.4587G>T (p.Met1529Ile) c.7466G>T c.10521G>T (p.Met3507Ile) c.675G>T (p.Met225Ile) c.1877G>T c.1618G>T c.4012G>T (n.4012G>T) c.10395G>T (p.Met3465Ile) n.4324G>T c.10524G>T (p.Met3508Ile) | |
2 | g.73572399A= | CA1261021039 | ALMS1 | c.10141A= (p.Arg3381=) c.3227A= c.7422A= c.4588A= (p.Arg1530=) c.7467A= c.10522A= (p.Arg3508=) c.676A= (p.Arg226=) c.1878A= c.1619A= c.4013A= (n.4013A=) c.10396A= (p.Arg3466=) n.4325A= c.10525A= (p.Arg3509=) | |
2 | g.73572399A>C | CA427024612 | ALMS1 | c.10141A>C (p.Arg3381=) c.3227A>C c.7422A>C c.4588A>C (p.Arg1530=) c.7467A>C c.10522A>C (p.Arg3508=) c.676A>C (p.Arg226=) c.1878A>C c.1619A>C c.4013A>C (n.4013A>C) c.10396A>C (p.Arg3466=) n.4325A>C c.10525A>C (p.Arg3509=) | |
2 | g.73572399A>G | CA347283381 | ALMS1 | c.10141A>G (p.Arg3381Gly) c.3227A>G c.7422A>G c.4588A>G (p.Arg1530Gly) c.7467A>G c.10522A>G (p.Arg3508Gly) c.676A>G (p.Arg226Gly) c.1878A>G c.1619A>G c.4013A>G (n.4013A>G) c.10396A>G (p.Arg3466Gly) n.4325A>G c.10525A>G (p.Arg3509Gly) | dbSNP gnomAD v2 |
2 | g.73572399A>T | CA347283379 | ALMS1 | c.10141A>T (p.Arg3381Ter) c.3227A>T c.7422A>T c.4588A>T (p.Arg1530Ter) c.7467A>T c.10522A>T (p.Arg3508Ter) c.676A>T (p.Arg226Ter) c.1878A>T c.1619A>T c.4013A>T (n.4013A>T) c.10396A>T (p.Arg3466Ter) n.4325A>T c.10525A>T (p.Arg3509Ter) | |
2 | g.73572400G>A | CA347283384 | ALMS1 | c.10142G>A (p.Arg3381Lys) c.3228G>A c.7423G>A c.4589G>A (p.Arg1530Lys) c.7468G>A c.10523G>A (p.Arg3508Lys) c.677G>A (p.Arg226Lys) c.1879G>A c.1620G>A c.4014G>A (n.4014G>A) c.10397G>A (p.Arg3466Lys) n.4326G>A c.10526G>A (p.Arg3509Lys) | |
2 | g.73572400G>C | CA347283388 | ALMS1 | c.10142G>C (p.Arg3381Thr) c.3228G>C c.7423G>C c.4589G>C (p.Arg1530Thr) c.7468G>C c.10523G>C (p.Arg3508Thr) c.677G>C (p.Arg226Thr) c.1879G>C c.1620G>C c.4014G>C (n.4014G>C) c.10397G>C (p.Arg3466Thr) n.4326G>C c.10526G>C (p.Arg3509Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572400G= | CA1261021043 | ALMS1 | c.10142G= (p.Arg3381=) c.3228G= c.7423G= c.4589G= (p.Arg1530=) c.7468G= c.10523G= (p.Arg3508=) c.677G= (p.Arg226=) c.1879G= c.1620G= c.4014G= (n.4014G=) c.10397G= (p.Arg3466=) n.4326G= c.10526G= (p.Arg3509=) | |
2 | g.73572400G>T | CA347283385 | ALMS1 | c.10142G>T (p.Arg3381Ile) c.3228G>T c.7423G>T c.4589G>T (p.Arg1530Ile) c.7468G>T c.10523G>T (p.Arg3508Ile) c.677G>T (p.Arg226Ile) c.1879G>T c.1620G>T c.4014G>T (n.4014G>T) c.10397G>T (p.Arg3466Ile) n.4326G>T c.10526G>T (p.Arg3509Ile) | |
2 | g.73572401A>C | CA347283392 | ALMS1 | c.10143A>C (p.Arg3381Ser) c.3229A>C c.7424A>C c.4590A>C (p.Arg1530Ser) c.7469A>C c.10524A>C (p.Arg3508Ser) c.678A>C (p.Arg226Ser) c.1880A>C c.1621A>C c.4015A>C (n.4015A>C) c.10398A>C (p.Arg3466Ser) n.4327A>C c.10527A>C (p.Arg3509Ser) | |
2 | g.73572401A>G | CA427024617 | ALMS1 | c.10143A>G (p.Arg3381=) c.3229A>G c.7424A>G c.4590A>G (p.Arg1530=) c.7469A>G c.10524A>G (p.Arg3508=) c.678A>G (p.Arg226=) c.1880A>G c.1621A>G c.4015A>G (n.4015A>G) c.10398A>G (p.Arg3466=) n.4327A>G c.10527A>G (p.Arg3509=) | |
2 | g.73572401A>T | CA347283394 | ALMS1 | c.10143A>T (p.Arg3381Ser) c.3229A>T c.7424A>T c.4590A>T (p.Arg1530Ser) c.7469A>T c.10524A>T (p.Arg3508Ser) c.678A>T (p.Arg226Ser) c.1880A>T c.1621A>T c.4015A>T (n.4015A>T) c.10398A>T (p.Arg3466Ser) n.4327A>T c.10527A>T (p.Arg3509Ser) | |
2 | g.73572402C>A | CA347283398 | ALMS1 | c.10144C>A (p.His3382Asn) c.3230C>A c.7425C>A c.4591C>A (p.His1531Asn) c.7470C>A c.10525C>A (p.His3509Asn) c.679C>A (p.His227Asn) c.1881C>A c.1622C>A c.4016C>A (n.4016C>A) c.10399C>A (p.His3467Asn) n.4328C>A c.10528C>A (p.His3510Asn) | |
2 | g.73572402C>G | CA347283401 | ALMS1 | c.10144C>G (p.His3382Asp) c.3230C>G c.7425C>G c.4591C>G (p.His1531Asp) c.7470C>G c.10525C>G (p.His3509Asp) c.679C>G (p.His227Asp) c.1881C>G c.1622C>G c.4016C>G (n.4016C>G) c.10399C>G (p.His3467Asp) n.4328C>G c.10528C>G (p.His3510Asp) | |
2 | g.73572402C>T | CA347283403 | ALMS1 | c.10144C>T (p.His3382Tyr) c.3230C>T c.7425C>T c.4591C>T (p.His1531Tyr) c.7470C>T c.10525C>T (p.His3509Tyr) c.679C>T (p.His227Tyr) c.1881C>T c.1622C>T c.4016C>T (n.4016C>T) c.10399C>T (p.His3467Tyr) n.4328C>T c.10528C>T (p.His3510Tyr) | |
2 | g.73572403A= | CA1261021048 | ALMS1 | c.10145A= (p.His3382=) c.3231A= c.7426A= c.4592A= (p.His1531=) c.7471A= c.10526A= (p.His3509=) c.680A= (p.His227=) c.1882A= c.1623A= c.4017A= (n.4017A=) c.10400A= (p.His3467=) n.4329A= c.10529A= (p.His3510=) | |
2 | g.73572403A>C | CA347283407 | ALMS1 | c.10145A>C (p.His3382Pro) c.3231A>C c.7426A>C c.4592A>C (p.His1531Pro) c.7471A>C c.10526A>C (p.His3509Pro) c.680A>C (p.His227Pro) c.1882A>C c.1623A>C c.4017A>C (n.4017A>C) c.10400A>C (p.His3467Pro) n.4329A>C c.10529A>C (p.His3510Pro) | |
2 | g.73572403A>G | CA347283409 | ALMS1 | c.10145A>G (p.His3382Arg) c.3231A>G c.7426A>G c.4592A>G (p.His1531Arg) c.7471A>G c.10526A>G (p.His3509Arg) c.680A>G (p.His227Arg) c.1882A>G c.1623A>G c.4017A>G (n.4017A>G) c.10400A>G (p.His3467Arg) n.4329A>G c.10529A>G (p.His3510Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572403A>T | CA347283412 | ALMS1 | c.10145A>T (p.His3382Leu) c.3231A>T c.7426A>T c.4592A>T (p.His1531Leu) c.7471A>T c.10526A>T (p.His3509Leu) c.680A>T (p.His227Leu) c.1882A>T c.1623A>T c.4017A>T (n.4017A>T) c.10400A>T (p.His3467Leu) n.4329A>T c.10529A>T (p.His3510Leu) | |
2 | g.73572404T>A | CA347283415 | ALMS1 | c.10146T>A (p.His3382Gln) c.3232T>A c.7427T>A c.4593T>A (p.His1531Gln) c.7472T>A c.10527T>A (p.His3509Gln) c.681T>A (p.His227Gln) c.1883T>A c.1624T>A c.4018T>A (n.4018T>A) c.10401T>A (p.His3467Gln) n.4330T>A c.10530T>A (p.His3510Gln) | |
2 | g.73572404T>C | CA427024628 | ALMS1 | c.10146T>C (p.His3382=) c.3232T>C c.7427T>C c.4593T>C (p.His1531=) c.7472T>C c.10527T>C (p.His3509=) c.681T>C (p.His227=) c.1883T>C c.1624T>C c.4018T>C (n.4018T>C) c.10401T>C (p.His3467=) n.4330T>C c.10530T>C (p.His3510=) | gnomAD v4 |
2 | g.73572404T>G | CA347283417 | ALMS1 | c.10146T>G (p.His3382Gln) c.3232T>G c.7427T>G c.4593T>G (p.His1531Gln) c.7472T>G c.10527T>G (p.His3509Gln) c.681T>G (p.His227Gln) c.1883T>G c.1624T>G c.4018T>G (n.4018T>G) c.10401T>G (p.His3467Gln) n.4330T>G c.10530T>G (p.His3510Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572404T= | CA1261021058 | ALMS1 | c.10146T= (p.His3382=) c.3232T= c.7427T= c.4593T= (p.His1531=) c.7472T= c.10527T= (p.His3509=) c.681T= (p.His227=) c.1883T= c.1624T= c.4018T= (n.4018T=) c.10401T= (p.His3467=) n.4330T= c.10530T= (p.His3510=) | |
2 | g.73572405dup | CA892825667 | ALMS1 | c.10147dup (p.Ser3383PhefsTer14) c.3233dup c.7428dup c.4594dup (p.Ser1532PhefsTer14) c.7473dup c.10528dup (p.Ser3510PhefsTer14) c.682dup (p.Ser228PhefsTer14) c.1884dup c.1625dup c.4019dup (n.4019dup) c.10402dup (p.Ser3468PhefsTer14) n.4331dup c.10531dup (p.Ser3511PhefsTer14) | dbSNP |
2 | g.73572405T>A | CA347283424 | ALMS1 | c.10147T>A (p.Ser3383Thr) c.3233T>A c.7428T>A c.4594T>A (p.Ser1532Thr) c.7473T>A c.10528T>A (p.Ser3510Thr) c.682T>A (p.Ser228Thr) c.1884T>A c.1625T>A c.4019T>A (n.4019T>A) c.10402T>A (p.Ser3468Thr) n.4331T>A c.10531T>A (p.Ser3511Thr) | |
2 | g.73572405T>C | CA347283422 | ALMS1 | c.10147T>C (p.Ser3383Pro) c.3233T>C c.7428T>C c.4594T>C (p.Ser1532Pro) c.7473T>C c.10528T>C (p.Ser3510Pro) c.682T>C (p.Ser228Pro) c.1884T>C c.1625T>C c.4019T>C (n.4019T>C) c.10402T>C (p.Ser3468Pro) n.4331T>C c.10531T>C (p.Ser3511Pro) | |
2 | g.73572405T>G | CA347283420 | ALMS1 | c.10147T>G (p.Ser3383Ala) c.3233T>G c.7428T>G c.4594T>G (p.Ser1532Ala) c.7473T>G c.10528T>G (p.Ser3510Ala) c.682T>G (p.Ser228Ala) c.1884T>G c.1625T>G c.4019T>G (n.4019T>G) c.10402T>G (p.Ser3468Ala) n.4331T>G c.10531T>G (p.Ser3511Ala) | |
2 | g.73572406C>A | CA347283426 | ALMS1 | c.10148C>A (p.Ser3383Tyr) c.3234C>A c.7429C>A c.4595C>A (p.Ser1532Tyr) c.7474C>A c.10529C>A (p.Ser3510Tyr) c.683C>A (p.Ser228Tyr) c.1885C>A c.1626C>A c.4020C>A (n.4020C>A) c.10403C>A (p.Ser3468Tyr) n.4332C>A c.10532C>A (p.Ser3511Tyr) | |
2 | g.73572406C= | CA1261021065 | ALMS1 | c.10148C= (p.Ser3383=) c.3234C= c.7429C= c.4595C= (p.Ser1532=) c.7474C= c.10529C= (p.Ser3510=) c.683C= (p.Ser228=) c.1885C= c.1626C= c.4020C= (n.4020C=) c.10403C= (p.Ser3468=) n.4332C= c.10532C= (p.Ser3511=) | |
2 | g.73572406C>G | CA347283428 | ALMS1 | c.10148C>G (p.Ser3383Cys) c.3234C>G c.7429C>G c.4595C>G (p.Ser1532Cys) c.7474C>G c.10529C>G (p.Ser3510Cys) c.683C>G (p.Ser228Cys) c.1885C>G c.1626C>G c.4020C>G (n.4020C>G) c.10403C>G (p.Ser3468Cys) n.4332C>G c.10532C>G (p.Ser3511Cys) | |
2 | g.73572406C>T | CA347283430 | ALMS1 | c.10148C>T (p.Ser3383Phe) c.3234C>T c.7429C>T c.4595C>T (p.Ser1532Phe) c.7474C>T c.10529C>T (p.Ser3510Phe) c.683C>T (p.Ser228Phe) c.1885C>T c.1626C>T c.4020C>T (n.4020C>T) c.10403C>T (p.Ser3468Phe) n.4332C>T c.10532C>T (p.Ser3511Phe) | |
2 | g.73572407T>A | CA427024640 | ALMS1 | c.10149T>A (p.Ser3383=) c.3235T>A c.7430T>A c.4596T>A (p.Ser1532=) c.7475T>A c.10530T>A (p.Ser3510=) c.684T>A (p.Ser228=) c.1886T>A c.1627T>A c.4021T>A (n.4021T>A) c.10404T>A (p.Ser3468=) n.4333T>A c.10533T>A (p.Ser3511=) | |
2 | g.73572407T>C | CA427024636 | ALMS1 | c.10149T>C (p.Ser3383=) c.3235T>C c.7430T>C c.4596T>C (p.Ser1532=) c.7475T>C c.10530T>C (p.Ser3510=) c.684T>C (p.Ser228=) c.1886T>C c.1627T>C c.4021T>C (n.4021T>C) c.10404T>C (p.Ser3468=) n.4333T>C c.10533T>C (p.Ser3511=) | |
2 | g.73572407T>G | CA427024635 | ALMS1 | c.10149T>G (p.Ser3383=) c.3235T>G c.7430T>G c.4596T>G (p.Ser1532=) c.7475T>G c.10530T>G (p.Ser3510=) c.684T>G (p.Ser228=) c.1886T>G c.1627T>G c.4021T>G (n.4021T>G) c.10404T>G (p.Ser3468=) n.4333T>G c.10533T>G (p.Ser3511=) | |
2 | g.73572407T= | CA1261021073 | ALMS1 | c.10149T= (p.Ser3383=) c.3235T= c.7430T= c.4596T= (p.Ser1532=) c.7475T= c.10530T= (p.Ser3510=) c.684T= (p.Ser228=) c.1886T= c.1627T= c.4021T= (n.4021T=) c.10404T= (p.Ser3468=) n.4333T= c.10533T= (p.Ser3511=) | |
2 | g.73572407_73572408insGGAATGTCTTTCCAAGATT | CA2573135801 | ALMS1 | c.10149_10150insGGAATGTCTTTCCAAGATT (p.Trp3384GlyfsTer19) c.3235_3236insGGAATGTCTTTCCAAGATT c.7430_7431insGGAATGTCTTTCCAAGATT c.4596_4597insGGAATGTCTTTCCAAGATT (p.Trp1533GlyfsTer19) c.7475_7476insGGAATGTCTTTCCAAGATT c.10530_10531insGGAATGTCTTTCCAAGATT (p.Trp3511GlyfsTer19) c.684_685insGGAATGTCTTTCCAAGATT (p.Trp229GlyfsTer19) c.1886_1887insGGAATGTCTTTCCAAGATT c.1627_1628insGGAATGTCTTTCCAAGATT c.4021_4022insGGAATGTCTTTCCAAGATT (n.4021_4022insGGAATGTCTTTCCAAGATT) c.10404_10405insGGAATGTCTTTCCAAGATT (p.Trp3469GlyfsTer19) n.4333_4334insGGAATGTCTTTCCAAGATT c.10533_10534insGGAATGTCTTTCCAAGATT (p.Trp3512GlyfsTer19) | ClinVar dbSNP |
2 | g.73572407_73572408insGTCTTTCCAAGATTGGAAT | CA2695200831 | ALMS1 | c.10149_10150insGTCTTTCCAAGATTGGAAT (p.Trp3384ValfsTer19) c.3235_3236insGTCTTTCCAAGATTGGAAT c.7430_7431insGTCTTTCCAAGATTGGAAT c.4596_4597insGTCTTTCCAAGATTGGAAT (p.Trp1533ValfsTer19) c.7475_7476insGTCTTTCCAAGATTGGAAT c.10530_10531insGTCTTTCCAAGATTGGAAT (p.Trp3511ValfsTer19) c.684_685insGTCTTTCCAAGATTGGAAT (p.Trp229ValfsTer19) c.1886_1887insGTCTTTCCAAGATTGGAAT c.1627_1628insGTCTTTCCAAGATTGGAAT c.4021_4022insGTCTTTCCAAGATTGGAAT (n.4021_4022insGTCTTTCCAAGATTGGAAT) c.10404_10405insGTCTTTCCAAGATTGGAAT (p.Trp3469ValfsTer19) n.4333_4334insGTCTTTCCAAGATTGGAAT c.10533_10534insGTCTTTCCAAGATTGGAAT (p.Trp3512ValfsTer19) | ClinVar |
2 | g.73572412_73572413insTGTCTTTCCAAGATTGGAA | CA534124637 | ALMS1 | c.10154_10155insTGTCTTTCCAAGATTGGAA (p.Lys3385AsnfsTer18) c.3240_3241insTGTCTTTCCAAGATTGGAA c.7435_7436insTGTCTTTCCAAGATTGGAA c.4601_4602insTGTCTTTCCAAGATTGGAA (p.Lys1534AsnfsTer18) c.7480_7481insTGTCTTTCCAAGATTGGAA c.10535_10536insTGTCTTTCCAAGATTGGAA (p.Lys3512AsnfsTer18) c.689_690insTGTCTTTCCAAGATTGGAA (p.Lys230AsnfsTer18) c.1891_1892insTGTCTTTCCAAGATTGGAA c.1632_1633insTGTCTTTCCAAGATTGGAA c.4026_4027insTGTCTTTCCAAGATTGGAA (n.4026_4027insTGTCTTTCCAAGATTGGAA) c.10409_10410insTGTCTTTCCAAGATTGGAA (p.Lys3470AsnfsTer18) n.4338_4339insTGTCTTTCCAAGATTGGAA c.10538_10539insTGTCTTTCCAAGATTGGAA (p.Lys3513AsnfsTer18) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572407_73572408insC | CA1261021091 | ALMS1 | c.10149_10150insC (p.Trp3384LeufsTer13) c.3235_3236insC c.7430_7431insC c.4596_4597insC (p.Trp1533LeufsTer13) c.7475_7476insC c.10530_10531insC (p.Trp3511LeufsTer13) c.684_685insC (p.Trp229LeufsTer13) c.1886_1887insC c.1627_1628insC c.4021_4022insC (n.4021_4022insC) c.10404_10405insC (p.Trp3469LeufsTer13) n.4333_4334insC c.10533_10534insC (p.Trp3512LeufsTer13) | dbSNP |
2 | g.73572408T>A | CA347283434 | ALMS1 | c.10150T>A (p.Trp3384Arg) c.3236T>A c.7431T>A c.4597T>A (p.Trp1533Arg) c.7476T>A c.10531T>A (p.Trp3511Arg) c.685T>A (p.Trp229Arg) c.1887T>A c.1628T>A c.4022T>A (n.4022T>A) c.10405T>A (p.Trp3469Arg) n.4334T>A c.10534T>A (p.Trp3512Arg) | |
2 | g.73572408T>C | CA347283436 | ALMS1 | c.10150T>C (p.Trp3384Arg) c.3236T>C c.7431T>C c.4597T>C (p.Trp1533Arg) c.7476T>C c.10531T>C (p.Trp3511Arg) c.685T>C (p.Trp229Arg) c.1887T>C c.1628T>C c.4022T>C (n.4022T>C) c.10405T>C (p.Trp3469Arg) n.4334T>C c.10534T>C (p.Trp3512Arg) | |
2 | g.73572408T>G | CA347283438 | ALMS1 | c.10150T>G (p.Trp3384Gly) c.3236T>G c.7431T>G c.4597T>G (p.Trp1533Gly) c.7476T>G c.10531T>G (p.Trp3511Gly) c.685T>G (p.Trp229Gly) c.1887T>G c.1628T>G c.4022T>G (n.4022T>G) c.10405T>G (p.Trp3469Gly) n.4334T>G c.10534T>G (p.Trp3512Gly) | |
2 | g.73572409G>A | CA347283439 | ALMS1 | c.10151G>A (p.Trp3384Ter) c.3237G>A c.7432G>A c.4598G>A (p.Trp1533Ter) c.7477G>A c.10532G>A (p.Trp3511Ter) c.686G>A (p.Trp229Ter) c.1888G>A c.1629G>A c.4023G>A (n.4023G>A) c.10406G>A (p.Trp3469Ter) n.4335G>A c.10535G>A (p.Trp3512Ter) | dbSNP gnomAD v4 |
2 | g.73572409G>C | CA347283441 | ALMS1 | c.10151G>C (p.Trp3384Ser) c.3237G>C c.7432G>C c.4598G>C (p.Trp1533Ser) c.7477G>C c.10532G>C (p.Trp3511Ser) c.686G>C (p.Trp229Ser) c.1888G>C c.1629G>C c.4023G>C (n.4023G>C) c.10406G>C (p.Trp3469Ser) n.4335G>C c.10535G>C (p.Trp3512Ser) | |
2 | g.73572409G>T | CA347283442 | ALMS1 | c.10151G>T (p.Trp3384Leu) c.3237G>T c.7432G>T c.4598G>T (p.Trp1533Leu) c.7477G>T c.10532G>T (p.Trp3511Leu) c.686G>T (p.Trp229Leu) c.1888G>T c.1629G>T c.4023G>T (n.4023G>T) c.10406G>T (p.Trp3469Leu) n.4335G>T c.10535G>T (p.Trp3512Leu) | |
2 | g.73572410G>A | CA347283444 | ALMS1 | c.10152G>A (p.Trp3384Ter) c.3238G>A c.7433G>A c.4599G>A (p.Trp1533Ter) c.7478G>A c.10533G>A (p.Trp3511Ter) c.687G>A (p.Trp229Ter) c.1889G>A c.1630G>A c.4024G>A (n.4024G>A) c.10407G>A (p.Trp3469Ter) n.4336G>A c.10536G>A (p.Trp3512Ter) | |
2 | g.73572410G>C | CA347283446 | ALMS1 | c.10152G>C (p.Trp3384Cys) c.3238G>C c.7433G>C c.4599G>C (p.Trp1533Cys) c.7478G>C c.10533G>C (p.Trp3511Cys) c.687G>C (p.Trp229Cys) c.1889G>C c.1630G>C c.4024G>C (n.4024G>C) c.10407G>C (p.Trp3469Cys) n.4336G>C c.10536G>C (p.Trp3512Cys) | |
2 | g.73572410G= | CA1261021098 | ALMS1 | c.10152G= (p.Trp3384=) c.3238G= c.7433G= c.4599G= (p.Trp1533=) c.7478G= c.10533G= (p.Trp3511=) c.687G= (p.Trp229=) c.1889G= c.1630G= c.4024G= (n.4024G=) c.10407G= (p.Trp3469=) n.4336G= c.10536G= (p.Trp3512=) | |
2 | g.73572410G>T | CA1715017 | ALMS1 | c.10152G>T (p.Trp3384Cys) c.3238G>T c.7433G>T c.4599G>T (p.Trp1533Cys) c.7478G>T c.10533G>T (p.Trp3511Cys) c.687G>T (p.Trp229Cys) c.1889G>T c.1630G>T c.4024G>T (n.4024G>T) c.10407G>T (p.Trp3469Cys) n.4336G>T c.10536G>T (p.Trp3512Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572411A>C | CA347283453 | ALMS1 | c.10153A>C (p.Lys3385Gln) c.3239A>C c.7434A>C c.4600A>C (p.Lys1534Gln) c.7479A>C c.10534A>C (p.Lys3512Gln) c.688A>C (p.Lys230Gln) c.1890A>C c.1631A>C c.4025A>C (n.4025A>C) c.10408A>C (p.Lys3470Gln) n.4337A>C c.10537A>C (p.Lys3513Gln) | |
2 | g.73572411A>G | CA347283455 | ALMS1 | c.10153A>G (p.Lys3385Glu) c.3239A>G c.7434A>G c.4600A>G (p.Lys1534Glu) c.7479A>G c.10534A>G (p.Lys3512Glu) c.688A>G (p.Lys230Glu) c.1890A>G c.1631A>G c.4025A>G (n.4025A>G) c.10408A>G (p.Lys3470Glu) n.4337A>G c.10537A>G (p.Lys3513Glu) | ClinVar gnomAD v4 |
2 | g.73572411A>T | CA347283451 | ALMS1 | c.10153A>T (p.Lys3385Ter) c.3239A>T c.7434A>T c.4600A>T (p.Lys1534Ter) c.7479A>T c.10534A>T (p.Lys3512Ter) c.688A>T (p.Lys230Ter) c.1890A>T c.1631A>T c.4025A>T (n.4025A>T) c.10408A>T (p.Lys3470Ter) n.4337A>T c.10537A>T (p.Lys3513Ter) | |
2 | g.73572412A>C | CA347283458 | ALMS1 | c.10154A>C (p.Lys3385Thr) c.3240A>C c.7435A>C c.4601A>C (p.Lys1534Thr) c.7480A>C c.10535A>C (p.Lys3512Thr) c.689A>C (p.Lys230Thr) c.1891A>C c.1632A>C c.4026A>C (n.4026A>C) c.10409A>C (p.Lys3470Thr) n.4338A>C c.10538A>C (p.Lys3513Thr) | |
2 | g.73572412A>G | CA347283460 | ALMS1 | c.10154A>G (p.Lys3385Arg) c.3240A>G c.7435A>G c.4601A>G (p.Lys1534Arg) c.7480A>G c.10535A>G (p.Lys3512Arg) c.689A>G (p.Lys230Arg) c.1891A>G c.1632A>G c.4026A>G (n.4026A>G) c.10409A>G (p.Lys3470Arg) n.4338A>G c.10538A>G (p.Lys3513Arg) | |
2 | g.73572412A>T | CA347283462 | ALMS1 | c.10154A>T (p.Lys3385Ile) c.3240A>T c.7435A>T c.4601A>T (p.Lys1534Ile) c.7480A>T c.10535A>T (p.Lys3512Ile) c.689A>T (p.Lys230Ile) c.1891A>T c.1632A>T c.4026A>T (n.4026A>T) c.10409A>T (p.Lys3470Ile) n.4338A>T c.10538A>T (p.Lys3513Ile) | |
2 | g.73572413A>C | CA347283465 | ALMS1 | c.10155A>C (p.Lys3385Asn) c.3241A>C c.7436A>C c.4602A>C (p.Lys1534Asn) c.7481A>C c.10536A>C (p.Lys3512Asn) c.690A>C (p.Lys230Asn) c.1892A>C c.1633A>C c.4027A>C (n.4027A>C) c.10410A>C (p.Lys3470Asn) n.4339A>C c.10539A>C (p.Lys3513Asn) | |
2 | g.73572413A>G | CA427024649 | ALMS1 | c.10155A>G (p.Lys3385=) c.3241A>G c.7436A>G c.4602A>G (p.Lys1534=) c.7481A>G c.10536A>G (p.Lys3512=) c.690A>G (p.Lys230=) c.1892A>G c.1633A>G c.4027A>G (n.4027A>G) c.10410A>G (p.Lys3470=) n.4339A>G c.10539A>G (p.Lys3513=) | |
2 | g.73572413A>T | CA347283466 | ALMS1 | c.10155A>T (p.Lys3385Asn) c.3241A>T c.7436A>T c.4602A>T (p.Lys1534Asn) c.7481A>T c.10536A>T (p.Lys3512Asn) c.690A>T (p.Lys230Asn) c.1892A>T c.1633A>T c.4027A>T (n.4027A>T) c.10410A>T (p.Lys3470Asn) n.4339A>T c.10539A>T (p.Lys3513Asn) | |
2 | g.73572414G>A | CA347283469 | ALMS1 | c.10156G>A (p.Asp3386Asn) c.3242G>A c.7437G>A c.4603G>A (p.Asp1535Asn) c.7482G>A c.10537G>A (p.Asp3513Asn) c.691G>A (p.Asp231Asn) c.1893G>A c.1634G>A c.4028G>A (n.4028G>A) c.10411G>A (p.Asp3471Asn) n.4340G>A c.10540G>A (p.Asp3514Asn) | |
2 | g.73572414G>C | CA347283471 | ALMS1 | c.10156G>C (p.Asp3386His) c.3242G>C c.7437G>C c.4603G>C (p.Asp1535His) c.7482G>C c.10537G>C (p.Asp3513His) c.691G>C (p.Asp231His) c.1893G>C c.1634G>C c.4028G>C (n.4028G>C) c.10411G>C (p.Asp3471His) n.4340G>C c.10540G>C (p.Asp3514His) | |
2 | g.73572414G= | CA1261021107 | ALMS1 | c.10156G= (p.Asp3386=) c.3242G= c.7437G= c.4603G= (p.Asp1535=) c.7482G= c.10537G= (p.Asp3513=) c.691G= (p.Asp231=) c.1893G= c.1634G= c.4028G= (n.4028G=) c.10411G= (p.Asp3471=) n.4340G= c.10540G= (p.Asp3514=) | |
2 | g.73572414G>T | CA347283474 | ALMS1 | c.10156G>T (p.Asp3386Tyr) c.3242G>T c.7437G>T c.4603G>T (p.Asp1535Tyr) c.7482G>T c.10537G>T (p.Asp3513Tyr) c.691G>T (p.Asp231Tyr) c.1893G>T c.1634G>T c.4028G>T (n.4028G>T) c.10411G>T (p.Asp3471Tyr) n.4340G>T c.10540G>T (p.Asp3514Tyr) | ClinVar dbSNP |
2 | g.73572415A= | CA1261021116 | ALMS1 | c.10157A= (p.Asp3386=) c.3243A= c.7438A= c.4604A= (p.Asp1535=) c.7483A= c.10538A= (p.Asp3513=) c.692A= (p.Asp231=) c.1894A= c.1635A= c.4029A= (n.4029A=) c.10412A= (p.Asp3471=) n.4341A= c.10541A= (p.Asp3514=) | |
2 | g.73572415A>C | CA347283476 | ALMS1 | c.10157A>C (p.Asp3386Ala) c.3243A>C c.7438A>C c.4604A>C (p.Asp1535Ala) c.7483A>C c.10538A>C (p.Asp3513Ala) c.692A>C (p.Asp231Ala) c.1894A>C c.1635A>C c.4029A>C (n.4029A>C) c.10412A>C (p.Asp3471Ala) n.4341A>C c.10541A>C (p.Asp3514Ala) | |
2 | g.73572415A>G | CA347283479 | ALMS1 | c.10157A>G (p.Asp3386Gly) c.3243A>G c.7438A>G c.4604A>G (p.Asp1535Gly) c.7483A>G c.10538A>G (p.Asp3513Gly) c.692A>G (p.Asp231Gly) c.1894A>G c.1635A>G c.4029A>G (n.4029A>G) c.10412A>G (p.Asp3471Gly) n.4341A>G c.10541A>G (p.Asp3514Gly) | |
2 | g.73572415A>T | CA1715018 | ALMS1 | c.10157A>T (p.Asp3386Val) c.3243A>T c.7438A>T c.4604A>T (p.Asp1535Val) c.7483A>T c.10538A>T (p.Asp3513Val) c.692A>T (p.Asp231Val) c.1894A>T c.1635A>T c.4029A>T (n.4029A>T) c.10412A>T (p.Asp3471Val) n.4341A>T c.10541A>T (p.Asp3514Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572416T>A | CA347283485 | ALMS1 | c.10158T>A (p.Asp3386Glu) c.3244T>A c.7439T>A c.4605T>A (p.Asp1535Glu) c.7484T>A c.10539T>A (p.Asp3513Glu) c.693T>A (p.Asp231Glu) c.1895T>A c.1636T>A c.4030T>A (n.4030T>A) c.10413T>A (p.Asp3471Glu) n.4342T>A c.10542T>A (p.Asp3514Glu) | |
2 | g.73572416T>C | CA427024661 | ALMS1 | c.10158T>C (p.Asp3386=) c.3244T>C c.7439T>C c.4605T>C (p.Asp1535=) c.7484T>C c.10539T>C (p.Asp3513=) c.693T>C (p.Asp231=) c.1895T>C c.1636T>C c.4030T>C (n.4030T>C) c.10413T>C (p.Asp3471=) n.4342T>C c.10542T>C (p.Asp3514=) | ClinVar |
2 | g.73572416T>G | CA347283489 | ALMS1 | c.10158T>G (p.Asp3386Glu) c.3244T>G c.7439T>G c.4605T>G (p.Asp1535Glu) c.7484T>G c.10539T>G (p.Asp3513Glu) c.693T>G (p.Asp231Glu) c.1895T>G c.1636T>G c.4030T>G (n.4030T>G) c.10413T>G (p.Asp3471Glu) n.4342T>G c.10542T>G (p.Asp3514Glu) | |
2 | g.73572417T>A | CA347283500 | ALMS1 | c.10159T>A (p.Phe3387Ile) c.3245T>A c.7440T>A c.4606T>A (p.Phe1536Ile) c.7485T>A c.10540T>A (p.Phe3514Ile) c.694T>A (p.Phe232Ile) c.1896T>A c.1637T>A c.4031T>A (n.4031T>A) c.10414T>A (p.Phe3472Ile) n.4343T>A c.10543T>A (p.Phe3515Ile) | |
2 | g.73572417T>C | CA347283496 | ALMS1 | c.10159T>C (p.Phe3387Leu) c.3245T>C c.7440T>C c.4606T>C (p.Phe1536Leu) c.7485T>C c.10540T>C (p.Phe3514Leu) c.694T>C (p.Phe232Leu) c.1896T>C c.1637T>C c.4031T>C (n.4031T>C) c.10414T>C (p.Phe3472Leu) n.4343T>C c.10543T>C (p.Phe3515Leu) | |
2 | g.73572417T>G | CA347283494 | ALMS1 | c.10159T>G (p.Phe3387Val) c.3245T>G c.7440T>G c.4606T>G (p.Phe1536Val) c.7485T>G c.10540T>G (p.Phe3514Val) c.694T>G (p.Phe232Val) c.1896T>G c.1637T>G c.4031T>G (n.4031T>G) c.10414T>G (p.Phe3472Val) n.4343T>G c.10543T>G (p.Phe3515Val) | |
2 | g.73572417_73572418insCATGGCAAATA | CA2522630544 | ALMS1 | c.10159_10160insCATGGCAAATA (p.Phe3387SerfsTer?) c.3245_3246insCATGGCAAATA c.7440_7441insCATGGCAAATA c.4606_4607insCATGGCAAATA (p.Phe1536SerfsTer?) c.7485_7486insCATGGCAAATA c.10540_10541insCATGGCAAATA (p.Phe3514SerfsTer?) c.694_695insCATGGCAAATA (p.Phe232SerfsTer?) c.1896_1897insCATGGCAAATA c.1637_1638insCATGGCAAATA c.4031_4032insCATGGCAAATA (n.4031_4032insCATGGCAAATA) c.10414_10415insCATGGCAAATA (p.Phe3472SerfsTer?) n.4343_4344insCATGGCAAATA c.10543_10544insCATGGCAAATA (p.Phe3515SerfsTer?) | |
2 | g.73572418T>A | CA347283503 | ALMS1 | c.10160T>A (p.Phe3387Tyr) c.3246T>A c.7441T>A c.4607T>A (p.Phe1536Tyr) c.7486T>A c.10541T>A (p.Phe3514Tyr) c.695T>A (p.Phe232Tyr) c.1897T>A c.1638T>A c.4032T>A (n.4032T>A) c.10415T>A (p.Phe3472Tyr) n.4344T>A c.10544T>A (p.Phe3515Tyr) | |
2 | g.73572418T>C | CA347283505 | ALMS1 | c.10160T>C (p.Phe3387Ser) c.3246T>C c.7441T>C c.4607T>C (p.Phe1536Ser) c.7486T>C c.10541T>C (p.Phe3514Ser) c.695T>C (p.Phe232Ser) c.1897T>C c.1638T>C c.4032T>C (n.4032T>C) c.10415T>C (p.Phe3472Ser) n.4344T>C c.10544T>C (p.Phe3515Ser) | |
2 | g.73572418T>G | CA347283509 | ALMS1 | c.10160T>G (p.Phe3387Cys) c.3246T>G c.7441T>G c.4607T>G (p.Phe1536Cys) c.7486T>G c.10541T>G (p.Phe3514Cys) c.695T>G (p.Phe232Cys) c.1897T>G c.1638T>G c.4032T>G (n.4032T>G) c.10415T>G (p.Phe3472Cys) n.4344T>G c.10544T>G (p.Phe3515Cys) | |
2 | g.73572419C>A | CA347283512 | ALMS1 | c.10161C>A (p.Phe3387Leu) c.3247C>A c.7442C>A c.4608C>A (p.Phe1536Leu) c.7487C>A c.10542C>A (p.Phe3514Leu) c.696C>A (p.Phe232Leu) c.1898C>A c.1639C>A c.4033C>A (n.4033C>A) c.10416C>A (p.Phe3472Leu) n.4345C>A c.10545C>A (p.Phe3515Leu) | |
2 | g.73572419C>G | CA347283513 | ALMS1 | c.10161C>G (p.Phe3387Leu) c.3247C>G c.7442C>G c.4608C>G (p.Phe1536Leu) c.7487C>G c.10542C>G (p.Phe3514Leu) c.696C>G (p.Phe232Leu) c.1898C>G c.1639C>G c.4033C>G (n.4033C>G) c.10416C>G (p.Phe3472Leu) n.4345C>G c.10545C>G (p.Phe3515Leu) | gnomAD v4 |
2 | g.73572419C>T | CA427024671 | ALMS1 | c.10161C>T (p.Phe3387=) c.3247C>T c.7442C>T c.4608C>T (p.Phe1536=) c.7487C>T c.10542C>T (p.Phe3514=) c.696C>T (p.Phe232=) c.1898C>T c.1639C>T c.4033C>T (n.4033C>T) c.10416C>T (p.Phe3472=) n.4345C>T c.10545C>T (p.Phe3515=) | |
2 | g.73572420T>A | CA347283514 | ALMS1 | c.10162T>A (p.Phe3388Ile) c.3248T>A c.7443T>A c.4609T>A (p.Phe1537Ile) c.7488T>A c.10543T>A (p.Phe3515Ile) c.697T>A (p.Phe233Ile) c.1899T>A c.1640T>A c.4034T>A (n.4034T>A) c.10417T>A (p.Phe3473Ile) n.4346T>A c.10546T>A (p.Phe3516Ile) | |
2 | g.73572420T>C | CA347283515 | ALMS1 | c.10162T>C (p.Phe3388Leu) c.3248T>C c.7443T>C c.4609T>C (p.Phe1537Leu) c.7488T>C c.10543T>C (p.Phe3515Leu) c.697T>C (p.Phe233Leu) c.1899T>C c.1640T>C c.4034T>C (n.4034T>C) c.10417T>C (p.Phe3473Leu) n.4346T>C c.10546T>C (p.Phe3516Leu) | |
2 | g.73572420T>G | CA347283517 | ALMS1 | c.10162T>G (p.Phe3388Val) c.3248T>G c.7443T>G c.4609T>G (p.Phe1537Val) c.7488T>G c.10543T>G (p.Phe3515Val) c.697T>G (p.Phe233Val) c.1899T>G c.1640T>G c.4034T>G (n.4034T>G) c.10417T>G (p.Phe3473Val) n.4346T>G c.10546T>G (p.Phe3516Val) | |
2 | g.73572421T>A | CA347283520 | ALMS1 | c.10163T>A (p.Phe3388Tyr) c.3249T>A c.7444T>A c.4610T>A (p.Phe1537Tyr) c.7489T>A c.10544T>A (p.Phe3515Tyr) c.698T>A (p.Phe233Tyr) c.1900T>A c.1641T>A c.4035T>A (n.4035T>A) c.10418T>A (p.Phe3473Tyr) n.4347T>A c.10547T>A (p.Phe3516Tyr) | |
2 | g.73572421T>C | CA347283523 | ALMS1 | c.10163T>C (p.Phe3388Ser) c.3249T>C c.7444T>C c.4610T>C (p.Phe1537Ser) c.7489T>C c.10544T>C (p.Phe3515Ser) c.698T>C (p.Phe233Ser) c.1900T>C c.1641T>C c.4035T>C (n.4035T>C) c.10418T>C (p.Phe3473Ser) n.4347T>C c.10547T>C (p.Phe3516Ser) | |
2 | g.73572421T>G | CA347283526 | ALMS1 | c.10163T>G (p.Phe3388Cys) c.3249T>G c.7444T>G c.4610T>G (p.Phe1537Cys) c.7489T>G c.10544T>G (p.Phe3515Cys) c.698T>G (p.Phe233Cys) c.1900T>G c.1641T>G c.4035T>G (n.4035T>G) c.10418T>G (p.Phe3473Cys) n.4347T>G c.10547T>G (p.Phe3516Cys) | |
2 | g.73572421T= | CA1261021119 | ALMS1 | c.10163T= (p.Phe3388=) c.3249T= c.7444T= c.4610T= (p.Phe1537=) c.7489T= c.10544T= (p.Phe3515=) c.698T= (p.Phe233=) c.1900T= c.1641T= c.4035T= (n.4035T=) c.10418T= (p.Phe3473=) n.4347T= c.10547T= (p.Phe3516=) | |
2 | g.73572421_73572422insCA | CA658822830 | ALMS1 | c.10163_10164insCA (p.Gln3389IlefsTer?) c.3249_3250insCA c.7444_7445insCA c.4610_4611insCA (p.Gln1538IlefsTer?) c.7489_7490insCA c.10544_10545insCA (p.Gln3516IlefsTer?) c.698_699insCA (p.Gln234IlefsTer?) c.1900_1901insCA c.1641_1642insCA c.4035_4036insCA (n.4035_4036insCA) c.10418_10419insCA (p.Gln3474IlefsTer?) n.4347_4348insCA c.10547_10548insCA (p.Gln3517IlefsTer?) | ClinVar dbSNP |
2 | g.73572422T>A | CA1715019 | ALMS1 | c.10164T>A (p.Phe3388Leu) c.3250T>A c.7445T>A c.4611T>A (p.Phe1537Leu) c.7490T>A c.10545T>A (p.Phe3515Leu) c.699T>A (p.Phe233Leu) c.1901T>A c.1642T>A c.4036T>A (n.4036T>A) c.10419T>A (p.Phe3473Leu) n.4348T>A c.10548T>A (p.Phe3516Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572422T>C | CA427024676 | ALMS1 | c.10164T>C (p.Phe3388=) c.3250T>C c.7445T>C c.4611T>C (p.Phe1537=) c.7490T>C c.10545T>C (p.Phe3515=) c.699T>C (p.Phe233=) c.1901T>C c.1642T>C c.4036T>C (n.4036T>C) c.10419T>C (p.Phe3473=) n.4348T>C c.10548T>C (p.Phe3516=) | |
2 | g.73572422T>G | CA347283534 | ALMS1 | c.10164T>G (p.Phe3388Leu) c.3250T>G c.7445T>G c.4611T>G (p.Phe1537Leu) c.7490T>G c.10545T>G (p.Phe3515Leu) c.699T>G (p.Phe233Leu) c.1901T>G c.1642T>G c.4036T>G (n.4036T>G) c.10419T>G (p.Phe3473Leu) n.4348T>G c.10548T>G (p.Phe3516Leu) | ClinVar gnomAD v4 |
2 | g.73572422T= | CA1261021128 | ALMS1 | c.10164T= (p.Phe3388=) c.3250T= c.7445T= c.4611T= (p.Phe1537=) c.7490T= c.10545T= (p.Phe3515=) c.699T= (p.Phe233=) c.1901T= c.1642T= c.4036T= (n.4036T=) c.10419T= (p.Phe3473=) n.4348T= c.10548T= (p.Phe3516=) |