Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.73572575_73572579del | CA2697548291 | ALMS1 | c.10317_10321del (p.Val3440ArgfsTer6) c.3403_3407del c.7598_7602del c.4764_4768del (p.Val1589ArgfsTer6) c.7643_7647del c.10698_10702del (p.Val3567ArgfsTer6) c.852_856del (p.Val285ArgfsTer6) c.2054_2058del c.86_90del c.1795_1799del c.4189_4193del (n.4189_4193del) c.10572_10576del (p.Val3525ArgfsTer6) n.4501_4505del c.10701_10705del (p.Val3568ArgfsTer6) | ClinVar |
2 | g.73572577T>A | CA347284926 | ALMS1 | c.10319T>A (p.Val3440Asp) c.3405T>A c.7600T>A c.4766T>A (p.Val1589Asp) c.7645T>A c.10700T>A (p.Val3567Asp) c.854T>A (p.Val285Asp) c.2056T>A c.88T>A c.1797T>A c.4191T>A (n.4191T>A) c.10574T>A (p.Val3525Asp) n.4503T>A c.10703T>A (p.Val3568Asp) | |
2 | g.73572577T>C | CA347284933 | ALMS1 | c.10319T>C (p.Val3440Ala) c.3405T>C c.7600T>C c.4766T>C (p.Val1589Ala) c.7645T>C c.10700T>C (p.Val3567Ala) c.854T>C (p.Val285Ala) c.2056T>C c.88T>C c.1797T>C c.4191T>C (n.4191T>C) c.10574T>C (p.Val3525Ala) n.4503T>C c.10703T>C (p.Val3568Ala) | dbSNP gnomAD v4 |
2 | g.73572577T>G | CA347284930 | ALMS1 | c.10319T>G (p.Val3440Gly) c.3405T>G c.7600T>G c.4766T>G (p.Val1589Gly) c.7645T>G c.10700T>G (p.Val3567Gly) c.854T>G (p.Val285Gly) c.2056T>G c.88T>G c.1797T>G c.4191T>G (n.4191T>G) c.10574T>G (p.Val3525Gly) n.4503T>G c.10703T>G (p.Val3568Gly) | |
2 | g.73572578T>A | CA427024187 | ALMS1 | c.10320T>A (p.Val3440=) c.3406T>A c.7601T>A c.4767T>A (p.Val1589=) c.7646T>A c.10701T>A (p.Val3567=) c.855T>A (p.Val285=) c.2057T>A c.89T>A c.1798T>A c.4192T>A (n.4192T>A) c.10575T>A (p.Val3525=) n.4504T>A c.10704T>A (p.Val3568=) | |
2 | g.73572578T>C | CA427024189 | ALMS1 | c.10320T>C (p.Val3440=) c.3406T>C c.7601T>C c.4767T>C (p.Val1589=) c.7646T>C c.10701T>C (p.Val3567=) c.855T>C (p.Val285=) c.2057T>C c.89T>C c.1798T>C c.4192T>C (n.4192T>C) c.10575T>C (p.Val3525=) n.4504T>C c.10704T>C (p.Val3568=) | ClinVar dbSNP gnomAD v4 |
2 | g.73572578T>G | CA427024190 | ALMS1 | c.10320T>G (p.Val3440=) c.3406T>G c.7601T>G c.4767T>G (p.Val1589=) c.7646T>G c.10701T>G (p.Val3567=) c.855T>G (p.Val285=) c.2057T>G c.89T>G c.1798T>G c.4192T>G (n.4192T>G) c.10575T>G (p.Val3525=) n.4504T>G c.10704T>G (p.Val3568=) | |
2 | g.73572579A>C | CA427024191 | ALMS1 | c.10321A>C (p.Arg3441=) c.3407A>C c.7602A>C c.4768A>C (p.Arg1590=) c.7647A>C c.10702A>C (p.Arg3568=) c.856A>C (p.Arg286=) c.2058A>C c.90A>C c.1799A>C c.4193A>C (n.4193A>C) c.10576A>C (p.Arg3526=) n.4505A>C c.10705A>C (p.Arg3569=) | |
2 | g.73572579A>G | CA347284937 | ALMS1 | c.10321A>G (p.Arg3441Gly) c.3407A>G c.7602A>G c.4768A>G (p.Arg1590Gly) c.7647A>G c.10702A>G (p.Arg3568Gly) c.856A>G (p.Arg286Gly) c.2058A>G c.90A>G c.1799A>G c.4193A>G (n.4193A>G) c.10576A>G (p.Arg3526Gly) n.4505A>G c.10705A>G (p.Arg3569Gly) | |
2 | g.73572579A>T | CA347284940 | ALMS1 | c.10321A>T (p.Arg3441Ter) c.3407A>T c.7602A>T c.4768A>T (p.Arg1590Ter) c.7647A>T c.10702A>T (p.Arg3568Ter) c.856A>T (p.Arg286Ter) c.2058A>T c.90A>T c.1799A>T c.4193A>T (n.4193A>T) c.10576A>T (p.Arg3526Ter) n.4505A>T c.10705A>T (p.Arg3569Ter) | |
2 | g.73572580G>A | CA347284943 | ALMS1 | c.10322G>A (p.Arg3441Lys) c.3408G>A c.7603G>A c.4769G>A (p.Arg1590Lys) c.7648G>A c.10703G>A (p.Arg3568Lys) c.857G>A (p.Arg286Lys) c.2059G>A c.91G>A c.1800G>A c.4194G>A (n.4194G>A) c.10577G>A (p.Arg3526Lys) n.4506G>A c.10706G>A (p.Arg3569Lys) | |
2 | g.73572580G>C | CA347284948 | ALMS1 | c.10322G>C (p.Arg3441Thr) c.3408G>C c.7603G>C c.4769G>C (p.Arg1590Thr) c.7648G>C c.10703G>C (p.Arg3568Thr) c.857G>C (p.Arg286Thr) c.2059G>C c.91G>C c.1800G>C c.4194G>C (n.4194G>C) c.10577G>C (p.Arg3526Thr) n.4506G>C c.10706G>C (p.Arg3569Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572580G= | CA1261021322 | ALMS1 | c.10322G= (p.Arg3441=) c.3408G= c.7603G= c.4769G= (p.Arg1590=) c.7648G= c.10703G= (p.Arg3568=) c.857G= (p.Arg286=) c.2059G= c.91G= c.1800G= c.4194G= (n.4194G=) c.10577G= (p.Arg3526=) n.4506G= c.10706G= (p.Arg3569=) | |
2 | g.73572580G>T | CA347284953 | ALMS1 | c.10322G>T (p.Arg3441Ile) c.3408G>T c.7603G>T c.4769G>T (p.Arg1590Ile) c.7648G>T c.10703G>T (p.Arg3568Ile) c.857G>T (p.Arg286Ile) c.2059G>T c.91G>T c.1800G>T c.4194G>T (n.4194G>T) c.10577G>T (p.Arg3526Ile) n.4506G>T c.10706G>T (p.Arg3569Ile) | |
2 | g.73572581A= | CA1261021324 | ALMS1 | c.10323A= (p.Arg3441=) c.3409A= c.7604A= c.4770A= (p.Arg1590=) c.7649A= c.10704A= (p.Arg3568=) c.858A= (p.Arg286=) c.2060A= c.92A= c.1801A= c.4195A= (n.4195A=) c.10578A= (p.Arg3526=) n.4507A= c.10707A= (p.Arg3569=) | |
2 | g.73572581A>C | CA1715045 | ALMS1 | c.10323A>C (p.Arg3441Ser) c.3409A>C c.7604A>C c.4770A>C (p.Arg1590Ser) c.7649A>C c.10704A>C (p.Arg3568Ser) c.858A>C (p.Arg286Ser) c.2060A>C c.92A>C c.1801A>C c.4195A>C (n.4195A>C) c.10578A>C (p.Arg3526Ser) n.4507A>C c.10707A>C (p.Arg3569Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572581A>G | CA427024198 | ALMS1 | c.10323A>G (p.Arg3441=) c.3409A>G c.7604A>G c.4770A>G (p.Arg1590=) c.7649A>G c.10704A>G (p.Arg3568=) c.858A>G (p.Arg286=) c.2060A>G c.92A>G c.1801A>G c.4195A>G (n.4195A>G) c.10578A>G (p.Arg3526=) n.4507A>G c.10707A>G (p.Arg3569=) | |
2 | g.73572581A>T | CA347284961 | ALMS1 | c.10323A>T (p.Arg3441Ser) c.3409A>T c.7604A>T c.4770A>T (p.Arg1590Ser) c.7649A>T c.10704A>T (p.Arg3568Ser) c.858A>T (p.Arg286Ser) c.2060A>T c.92A>T c.1801A>T c.4195A>T (n.4195A>T) c.10578A>T (p.Arg3526Ser) n.4507A>T c.10707A>T (p.Arg3569Ser) | |
2 | g.73572582G>A | CA347284968 | ALMS1 | c.10324G>A (p.Asp3442Asn) c.3410G>A c.7605G>A c.4771G>A (p.Asp1591Asn) c.7650G>A c.10705G>A (p.Asp3569Asn) c.859G>A (p.Asp287Asn) c.2061G>A c.93G>A c.1802G>A c.4196G>A (n.4196G>A) c.10579G>A (p.Asp3527Asn) n.4508G>A c.10708G>A (p.Asp3570Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572582G>C | CA347284971 | ALMS1 | c.10324G>C (p.Asp3442His) c.3410G>C c.7605G>C c.4771G>C (p.Asp1591His) c.7650G>C c.10705G>C (p.Asp3569His) c.859G>C (p.Asp287His) c.2061G>C c.93G>C c.1802G>C c.4196G>C (n.4196G>C) c.10579G>C (p.Asp3527His) n.4508G>C c.10708G>C (p.Asp3570His) | |
2 | g.73572582G= | CA1261021328 | ALMS1 | c.10324G= (p.Asp3442=) c.3410G= c.7605G= c.4771G= (p.Asp1591=) c.7650G= c.10705G= (p.Asp3569=) c.859G= (p.Asp287=) c.2061G= c.93G= c.1802G= c.4196G= (n.4196G=) c.10579G= (p.Asp3527=) n.4508G= c.10708G= (p.Asp3570=) | |
2 | g.73572582G>T | CA347284976 | ALMS1 | c.10324G>T (p.Asp3442Tyr) c.3410G>T c.7605G>T c.4771G>T (p.Asp1591Tyr) c.7650G>T c.10705G>T (p.Asp3569Tyr) c.859G>T (p.Asp287Tyr) c.2061G>T c.93G>T c.1802G>T c.4196G>T (n.4196G>T) c.10579G>T (p.Asp3527Tyr) n.4508G>T c.10708G>T (p.Asp3570Tyr) | |
2 | g.73572583A>C | CA347284980 | ALMS1 | c.10325A>C (p.Asp3442Ala) c.3411A>C c.7606A>C c.4772A>C (p.Asp1591Ala) c.7651A>C c.10706A>C (p.Asp3569Ala) c.860A>C (p.Asp287Ala) c.2062A>C c.94A>C c.1803A>C c.4197A>C (n.4197A>C) c.10580A>C (p.Asp3527Ala) n.4509A>C c.10709A>C (p.Asp3570Ala) | |
2 | g.73572583A>G | CA347284985 | ALMS1 | c.10325A>G (p.Asp3442Gly) c.3411A>G c.7606A>G c.4772A>G (p.Asp1591Gly) c.7651A>G c.10706A>G (p.Asp3569Gly) c.860A>G (p.Asp287Gly) c.2062A>G c.94A>G c.1803A>G c.4197A>G (n.4197A>G) c.10580A>G (p.Asp3527Gly) n.4509A>G c.10709A>G (p.Asp3570Gly) | gnomAD v4 |
2 | g.73572583A>T | CA347284987 | ALMS1 | c.10325A>T (p.Asp3442Val) c.3411A>T c.7606A>T c.4772A>T (p.Asp1591Val) c.7651A>T c.10706A>T (p.Asp3569Val) c.860A>T (p.Asp287Val) c.2062A>T c.94A>T c.1803A>T c.4197A>T (n.4197A>T) c.10580A>T (p.Asp3527Val) n.4509A>T c.10709A>T (p.Asp3570Val) | |
2 | g.73572584T>A | CA347284999 | ALMS1 | c.10326T>A (p.Asp3442Glu) c.3412T>A c.7607T>A c.4773T>A (p.Asp1591Glu) c.7652T>A c.10707T>A (p.Asp3569Glu) c.861T>A (p.Asp287Glu) c.2063T>A c.95T>A c.1804T>A c.4198T>A (n.4198T>A) c.10581T>A (p.Asp3527Glu) n.4510T>A c.10710T>A (p.Asp3570Glu) | |
2 | g.73572584T>C | CA427024204 | ALMS1 | c.10326T>C (p.Asp3442=) c.3412T>C c.7607T>C c.4773T>C (p.Asp1591=) c.7652T>C c.10707T>C (p.Asp3569=) c.861T>C (p.Asp287=) c.2063T>C c.95T>C c.1804T>C c.4198T>C (n.4198T>C) c.10581T>C (p.Asp3527=) n.4510T>C c.10710T>C (p.Asp3570=) | |
2 | g.73572584T>G | CA347284994 | ALMS1 | c.10326T>G (p.Asp3442Glu) c.3412T>G c.7607T>G c.4773T>G (p.Asp1591Glu) c.7652T>G c.10707T>G (p.Asp3569Glu) c.861T>G (p.Asp287Glu) c.2063T>G c.95T>G c.1804T>G c.4198T>G (n.4198T>G) c.10581T>G (p.Asp3527Glu) n.4510T>G c.10710T>G (p.Asp3570Glu) | |
2 | g.73572585T>A | CA347285004 | ALMS1 | c.10327T>A (p.Tyr3443Asn) c.3413T>A c.7608T>A c.4774T>A (p.Tyr1592Asn) c.7653T>A c.10708T>A (p.Tyr3570Asn) c.862T>A (p.Tyr288Asn) c.2064T>A c.96T>A c.1805T>A c.4199T>A (n.4199T>A) c.10582T>A (p.Tyr3528Asn) n.4511T>A c.10711T>A (p.Tyr3571Asn) | |
2 | g.73572585T>C | CA347285006 | ALMS1 | c.10327T>C (p.Tyr3443His) c.3413T>C c.7608T>C c.4774T>C (p.Tyr1592His) c.7653T>C c.10708T>C (p.Tyr3570His) c.862T>C (p.Tyr288His) c.2064T>C c.96T>C c.1805T>C c.4199T>C (n.4199T>C) c.10582T>C (p.Tyr3528His) n.4511T>C c.10711T>C (p.Tyr3571His) | |
2 | g.73572585T>G | CA347285010 | ALMS1 | c.10327T>G (p.Tyr3443Asp) c.3413T>G c.7608T>G c.4774T>G (p.Tyr1592Asp) c.7653T>G c.10708T>G (p.Tyr3570Asp) c.862T>G (p.Tyr288Asp) c.2064T>G c.96T>G c.1805T>G c.4199T>G (n.4199T>G) c.10582T>G (p.Tyr3528Asp) n.4511T>G c.10711T>G (p.Tyr3571Asp) | |
2 | g.73572586A>C | CA347285016 | ALMS1 | c.10328A>C (p.Tyr3443Ser) c.3414A>C c.7609A>C c.4775A>C (p.Tyr1592Ser) c.7654A>C c.10709A>C (p.Tyr3570Ser) c.863A>C (p.Tyr288Ser) c.2065A>C c.97A>C c.1806A>C c.4200A>C (n.4200A>C) c.10583A>C (p.Tyr3528Ser) n.4512A>C c.10712A>C (p.Tyr3571Ser) | |
2 | g.73572586A>G | CA347285019 | ALMS1 | c.10328A>G (p.Tyr3443Cys) c.3414A>G c.7609A>G c.4775A>G (p.Tyr1592Cys) c.7654A>G c.10709A>G (p.Tyr3570Cys) c.863A>G (p.Tyr288Cys) c.2065A>G c.97A>G c.1806A>G c.4200A>G (n.4200A>G) c.10583A>G (p.Tyr3528Cys) n.4512A>G c.10712A>G (p.Tyr3571Cys) | ClinVar dbSNP gnomAD v4 |
2 | g.73572586A>T | CA347285021 | ALMS1 | c.10328A>T (p.Tyr3443Phe) c.3414A>T c.7609A>T c.4775A>T (p.Tyr1592Phe) c.7654A>T c.10709A>T (p.Tyr3570Phe) c.863A>T (p.Tyr288Phe) c.2065A>T c.97A>T c.1806A>T c.4200A>T (n.4200A>T) c.10583A>T (p.Tyr3528Phe) n.4512A>T c.10712A>T (p.Tyr3571Phe) | |
2 | g.73572587T>A | CA347285025 | ALMS1 | c.10329T>A (p.Tyr3443Ter) c.3415T>A c.7610T>A c.4776T>A (p.Tyr1592Ter) c.7655T>A c.10710T>A (p.Tyr3570Ter) c.864T>A (p.Tyr288Ter) c.2066T>A c.98T>A c.1807T>A c.4201T>A (n.4201T>A) c.10584T>A (p.Tyr3528Ter) n.4513T>A c.10713T>A (p.Tyr3571Ter) | |
2 | g.73572587T>C | CA427024212 | ALMS1 | c.10329T>C (p.Tyr3443=) c.3415T>C c.7610T>C c.4776T>C (p.Tyr1592=) c.7655T>C c.10710T>C (p.Tyr3570=) c.864T>C (p.Tyr288=) c.2066T>C c.98T>C c.1807T>C c.4201T>C (n.4201T>C) c.10584T>C (p.Tyr3528=) n.4513T>C c.10713T>C (p.Tyr3571=) | |
2 | g.73572587T>G | CA347285026 | ALMS1 | c.10329T>G (p.Tyr3443Ter) c.3415T>G c.7610T>G c.4776T>G (p.Tyr1592Ter) c.7655T>G c.10710T>G (p.Tyr3570Ter) c.864T>G (p.Tyr288Ter) c.2066T>G c.98T>G c.1807T>G c.4201T>G (n.4201T>G) c.10584T>G (p.Tyr3528Ter) n.4513T>G c.10713T>G (p.Tyr3571Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572587T= | CA1261021330 | ALMS1 | c.10329T= (p.Tyr3443=) c.3415T= c.7610T= c.4776T= (p.Tyr1592=) c.7655T= c.10710T= (p.Tyr3570=) c.864T= (p.Tyr288=) c.2066T= c.98T= c.1807T= c.4201T= (n.4201T=) c.10584T= (p.Tyr3528=) n.4513T= c.10713T= (p.Tyr3571=) | |
2 | g.73572588C>A | CA347285029 | ALMS1 | c.10330C>A (p.Pro3444Thr) c.3416C>A c.7611C>A c.4777C>A (p.Pro1593Thr) c.7656C>A c.10711C>A (p.Pro3571Thr) c.865C>A (p.Pro289Thr) c.2067C>A c.99C>A c.1808C>A c.4202C>A (n.4202C>A) c.10585C>A (p.Pro3529Thr) n.4514C>A c.10714C>A (p.Pro3572Thr) | |
2 | g.73572588C>G | CA347285031 | ALMS1 | c.10330C>G (p.Pro3444Ala) c.3416C>G c.7611C>G c.4777C>G (p.Pro1593Ala) c.7656C>G c.10711C>G (p.Pro3571Ala) c.865C>G (p.Pro289Ala) c.2067C>G c.99C>G c.1808C>G c.4202C>G (n.4202C>G) c.10585C>G (p.Pro3529Ala) n.4514C>G c.10714C>G (p.Pro3572Ala) | |
2 | g.73572588C>T | CA347285033 | ALMS1 | c.10330C>T (p.Pro3444Ser) c.3416C>T c.7611C>T c.4777C>T (p.Pro1593Ser) c.7656C>T c.10711C>T (p.Pro3571Ser) c.865C>T (p.Pro289Ser) c.2067C>T c.99C>T c.1808C>T c.4202C>T (n.4202C>T) c.10585C>T (p.Pro3529Ser) n.4514C>T c.10714C>T (p.Pro3572Ser) | |
2 | g.73572589C>A | CA347285039 | ALMS1 | c.10331C>A (p.Pro3444Gln) c.3417C>A c.7612C>A c.4778C>A (p.Pro1593Gln) c.7657C>A c.10712C>A (p.Pro3571Gln) c.866C>A (p.Pro289Gln) c.2068C>A c.100C>A c.1809C>A c.4203C>A (n.4203C>A) c.10586C>A (p.Pro3529Gln) n.4515C>A c.10715C>A (p.Pro3572Gln) | |
2 | g.73572589C= | CA1261021336 | ALMS1 | c.10331C= (p.Pro3444=) c.3417C= c.7612C= c.4778C= (p.Pro1593=) c.7657C= c.10712C= (p.Pro3571=) c.866C= (p.Pro289=) c.2068C= c.100C= c.1809C= c.4203C= (n.4203C=) c.10586C= (p.Pro3529=) n.4515C= c.10715C= (p.Pro3572=) | |
2 | g.73572589C>G | CA347285042 | ALMS1 | c.10331C>G (p.Pro3444Arg) c.3417C>G c.7612C>G c.4778C>G (p.Pro1593Arg) c.7657C>G c.10712C>G (p.Pro3571Arg) c.866C>G (p.Pro289Arg) c.2068C>G c.100C>G c.1809C>G c.4203C>G (n.4203C>G) c.10586C>G (p.Pro3529Arg) n.4515C>G c.10715C>G (p.Pro3572Arg) | gnomAD v4 |
2 | g.73572589C>T | CA347285037 | ALMS1 | c.10331C>T (p.Pro3444Leu) c.3417C>T c.7612C>T c.4778C>T (p.Pro1593Leu) c.7657C>T c.10712C>T (p.Pro3571Leu) c.866C>T (p.Pro289Leu) c.2068C>T c.100C>T c.1809C>T c.4203C>T (n.4203C>T) c.10586C>T (p.Pro3529Leu) n.4515C>T c.10715C>T (p.Pro3572Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572590A>C | CA427024221 | ALMS1 | c.10332A>C (p.Pro3444=) c.3418A>C c.7613A>C c.4779A>C (p.Pro1593=) c.7658A>C c.10713A>C (p.Pro3571=) c.867A>C (p.Pro289=) c.2069A>C c.101A>C c.1810A>C c.4204A>C (n.4204A>C) c.10587A>C (p.Pro3529=) n.4516A>C c.10716A>C (p.Pro3572=) | |
2 | g.73572590A>G | CA427024218 | ALMS1 | c.10332A>G (p.Pro3444=) c.3418A>G c.7613A>G c.4779A>G (p.Pro1593=) c.7658A>G c.10713A>G (p.Pro3571=) c.867A>G (p.Pro289=) c.2069A>G c.101A>G c.1810A>G c.4204A>G (n.4204A>G) c.10587A>G (p.Pro3529=) n.4516A>G c.10716A>G (p.Pro3572=) | |
2 | g.73572590A>T | CA427024216 | ALMS1 | c.10332A>T (p.Pro3444=) c.3418A>T c.7613A>T c.4779A>T (p.Pro1593=) c.7658A>T c.10713A>T (p.Pro3571=) c.867A>T (p.Pro289=) c.2069A>T c.101A>T c.1810A>T c.4204A>T (n.4204A>T) c.10587A>T (p.Pro3529=) n.4516A>T c.10716A>T (p.Pro3572=) | |
2 | g.73572591A>C | CA347285044 | ALMS1 | c.10333A>C (p.Lys3445Gln) c.3419A>C c.7614A>C c.4780A>C (p.Lys1594Gln) c.7659A>C c.10714A>C (p.Lys3572Gln) c.868A>C (p.Lys290Gln) c.2070A>C c.102A>C c.1811A>C c.4205A>C (n.4205A>C) c.10588A>C (p.Lys3530Gln) n.4517A>C c.10717A>C (p.Lys3573Gln) | |
2 | g.73572591A>G | CA347285047 | ALMS1 | c.10333A>G (p.Lys3445Glu) c.3419A>G c.7614A>G c.4780A>G (p.Lys1594Glu) c.7659A>G c.10714A>G (p.Lys3572Glu) c.868A>G (p.Lys290Glu) c.2070A>G c.102A>G c.1811A>G c.4205A>G (n.4205A>G) c.10588A>G (p.Lys3530Glu) n.4517A>G c.10717A>G (p.Lys3573Glu) | dbSNP |
2 | g.73572591A>T | CA347285049 | ALMS1 | c.10333A>T (p.Lys3445Ter) c.3419A>T c.7614A>T c.4780A>T (p.Lys1594Ter) c.7659A>T c.10714A>T (p.Lys3572Ter) c.868A>T (p.Lys290Ter) c.2070A>T c.102A>T c.1811A>T c.4205A>T (n.4205A>T) c.10588A>T (p.Lys3530Ter) n.4517A>T c.10717A>T (p.Lys3573Ter) | |
2 | g.73572592A= | CA1261021340 | ALMS1 | c.10334A= (p.Lys3445=) c.3420A= c.7615A= c.4781A= (p.Lys1594=) c.7660A= c.10715A= (p.Lys3572=) c.869A= (p.Lys290=) c.2071A= c.103A= c.1812A= c.4206A= (n.4206A=) c.10589A= (p.Lys3530=) n.4518A= c.10718A= (p.Lys3573=) | |
2 | g.73572592A>C | CA347285051 | ALMS1 | c.10334A>C (p.Lys3445Thr) c.3420A>C c.7615A>C c.4781A>C (p.Lys1594Thr) c.7660A>C c.10715A>C (p.Lys3572Thr) c.869A>C (p.Lys290Thr) c.2071A>C c.103A>C c.1812A>C c.4206A>C (n.4206A>C) c.10589A>C (p.Lys3530Thr) n.4518A>C c.10718A>C (p.Lys3573Thr) | |
2 | g.73572592A>G | CA1715046 | ALMS1 | c.10334A>G (p.Lys3445Arg) c.3420A>G c.7615A>G c.4781A>G (p.Lys1594Arg) c.7660A>G c.10715A>G (p.Lys3572Arg) c.869A>G (p.Lys290Arg) c.2071A>G c.103A>G c.1812A>G c.4206A>G (n.4206A>G) c.10589A>G (p.Lys3530Arg) n.4518A>G c.10718A>G (p.Lys3573Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572592A>T | CA347285054 | ALMS1 | c.10334A>T (p.Lys3445Ile) c.3420A>T c.7615A>T c.4781A>T (p.Lys1594Ile) c.7660A>T c.10715A>T (p.Lys3572Ile) c.869A>T (p.Lys290Ile) c.2071A>T c.103A>T c.1812A>T c.4206A>T (n.4206A>T) c.10589A>T (p.Lys3530Ile) n.4518A>T c.10718A>T (p.Lys3573Ile) | |
2 | g.73572593A>C | CA347285056 | ALMS1 | c.10335A>C (p.Lys3445Asn) c.3421A>C c.7616A>C c.4782A>C (p.Lys1594Asn) c.7661A>C c.10716A>C (p.Lys3572Asn) c.870A>C (p.Lys290Asn) c.2072A>C c.104A>C c.1813A>C c.4207A>C (n.4207A>C) c.10590A>C (p.Lys3530Asn) n.4519A>C c.10719A>C (p.Lys3573Asn) | |
2 | g.73572593A>G | CA427024226 | ALMS1 | c.10335A>G (p.Lys3445=) c.3421A>G c.7616A>G c.4782A>G (p.Lys1594=) c.7661A>G c.10716A>G (p.Lys3572=) c.870A>G (p.Lys290=) c.2072A>G c.104A>G c.1813A>G c.4207A>G (n.4207A>G) c.10590A>G (p.Lys3530=) n.4519A>G c.10719A>G (p.Lys3573=) | ClinVar dbSNP gnomAD v4 |
2 | g.73572593A>T | CA347285057 | ALMS1 | c.10335A>T (p.Lys3445Asn) c.3421A>T c.7616A>T c.4782A>T (p.Lys1594Asn) c.7661A>T c.10716A>T (p.Lys3572Asn) c.870A>T (p.Lys290Asn) c.2072A>T c.104A>T c.1813A>T c.4207A>T (n.4207A>T) c.10590A>T (p.Lys3530Asn) n.4519A>T c.10719A>T (p.Lys3573Asn) | |
2 | g.73572594C>A | CA347285061 | ALMS1 | c.10336C>A (p.His3446Asn) c.3422C>A c.7617C>A c.4783C>A (p.His1595Asn) c.7662C>A c.10717C>A (p.His3573Asn) c.871C>A (p.His291Asn) c.2073C>A c.105C>A c.1814C>A c.4208C>A (n.4208C>A) c.10591C>A (p.His3531Asn) n.4520C>A c.10720C>A (p.His3574Asn) | |
2 | g.73572594C>G | CA347285062 | ALMS1 | c.10336C>G (p.His3446Asp) c.3422C>G c.7617C>G c.4783C>G (p.His1595Asp) c.7662C>G c.10717C>G (p.His3573Asp) c.871C>G (p.His291Asp) c.2073C>G c.105C>G c.1814C>G c.4208C>G (n.4208C>G) c.10591C>G (p.His3531Asp) n.4520C>G c.10720C>G (p.His3574Asp) | |
2 | g.73572594C>T | CA347285064 | ALMS1 | c.10336C>T (p.His3446Tyr) c.3422C>T c.7617C>T c.4783C>T (p.His1595Tyr) c.7662C>T c.10717C>T (p.His3573Tyr) c.871C>T (p.His291Tyr) c.2073C>T c.105C>T c.1814C>T c.4208C>T (n.4208C>T) c.10591C>T (p.His3531Tyr) n.4520C>T c.10720C>T (p.His3574Tyr) | |
2 | g.73572595A= | CA1261021346 | ALMS1 | c.10337A= (p.His3446=) c.3423A= c.7618A= c.4784A= (p.His1595=) c.7663A= c.10718A= (p.His3573=) c.872A= (p.His291=) c.2074A= c.106A= c.1815A= c.4209A= (n.4209A=) c.10592A= (p.His3531=) n.4521A= c.10721A= (p.His3574=) | |
2 | g.73572595A>C | CA347285069 | ALMS1 | c.10337A>C (p.His3446Pro) c.3423A>C c.7618A>C c.4784A>C (p.His1595Pro) c.7663A>C c.10718A>C (p.His3573Pro) c.872A>C (p.His291Pro) c.2074A>C c.106A>C c.1815A>C c.4209A>C (n.4209A>C) c.10592A>C (p.His3531Pro) n.4521A>C c.10721A>C (p.His3574Pro) | |
2 | g.73572595A>G | CA347285068 | ALMS1 | c.10337A>G (p.His3446Arg) c.3423A>G c.7618A>G c.4784A>G (p.His1595Arg) c.7663A>G c.10718A>G (p.His3573Arg) c.872A>G (p.His291Arg) c.2074A>G c.106A>G c.1815A>G c.4209A>G (n.4209A>G) c.10592A>G (p.His3531Arg) n.4521A>G c.10721A>G (p.His3574Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572595A>T | CA347285066 | ALMS1 | c.10337A>T (p.His3446Leu) c.3423A>T c.7618A>T c.4784A>T (p.His1595Leu) c.7663A>T c.10718A>T (p.His3573Leu) c.872A>T (p.His291Leu) c.2074A>T c.106A>T c.1815A>T c.4209A>T (n.4209A>T) c.10592A>T (p.His3531Leu) n.4521A>T c.10721A>T (p.His3574Leu) | |
2 | g.73572596T>A | CA347285075 | ALMS1 | c.10338T>A (p.His3446Gln) c.3424T>A c.7619T>A c.4785T>A (p.His1595Gln) c.7664T>A c.10719T>A (p.His3573Gln) c.873T>A (p.His291Gln) c.2075T>A c.107T>A c.1816T>A c.4210T>A (n.4210T>A) c.10593T>A (p.His3531Gln) n.4522T>A c.10722T>A (p.His3574Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572596T>C | CA427024228 | ALMS1 | c.10338T>C (p.His3446=) c.3424T>C c.7619T>C c.4785T>C (p.His1595=) c.7664T>C c.10719T>C (p.His3573=) c.873T>C (p.His291=) c.2075T>C c.107T>C c.1816T>C c.4210T>C (n.4210T>C) c.10593T>C (p.His3531=) n.4522T>C c.10722T>C (p.His3574=) | |
2 | g.73572596T>G | CA347285076 | ALMS1 | c.10338T>G (p.His3446Gln) c.3424T>G c.7619T>G c.4785T>G (p.His1595Gln) c.7664T>G c.10719T>G (p.His3573Gln) c.873T>G (p.His291Gln) c.2075T>G c.107T>G c.1816T>G c.4210T>G (n.4210T>G) c.10593T>G (p.His3531Gln) n.4522T>G c.10722T>G (p.His3574Gln) | |
2 | g.73572596T= | CA1261021350 | ALMS1 | c.10338T= (p.His3446=) c.3424T= c.7619T= c.4785T= (p.His1595=) c.7664T= c.10719T= (p.His3573=) c.873T= (p.His291=) c.2075T= c.107T= c.1816T= c.4210T= (n.4210T=) c.10593T= (p.His3531=) n.4522T= c.10722T= (p.His3574=) | |
2 | g.73572597A>C | CA347285080 | ALMS1 | c.10339A>C (p.Asn3447His) c.3425A>C c.7620A>C c.4786A>C (p.Asn1596His) c.7665A>C c.10720A>C (p.Asn3574His) c.874A>C (p.Asn292His) c.2076A>C c.108A>C c.1817A>C c.4211A>C (n.4211A>C) c.10594A>C (p.Asn3532His) n.4523A>C c.10723A>C (p.Asn3575His) | |
2 | g.73572597A>G | CA347285081 | ALMS1 | c.10339A>G (p.Asn3447Asp) c.3425A>G c.7620A>G c.4786A>G (p.Asn1596Asp) c.7665A>G c.10720A>G (p.Asn3574Asp) c.874A>G (p.Asn292Asp) c.2076A>G c.108A>G c.1817A>G c.4211A>G (n.4211A>G) c.10594A>G (p.Asn3532Asp) n.4523A>G c.10723A>G (p.Asn3575Asp) | gnomAD v4 |
2 | g.73572597A>T | CA347285084 | ALMS1 | c.10339A>T (p.Asn3447Tyr) c.3425A>T c.7620A>T c.4786A>T (p.Asn1596Tyr) c.7665A>T c.10720A>T (p.Asn3574Tyr) c.874A>T (p.Asn292Tyr) c.2076A>T c.108A>T c.1817A>T c.4211A>T (n.4211A>T) c.10594A>T (p.Asn3532Tyr) n.4523A>T c.10723A>T (p.Asn3575Tyr) | |
2 | g.73572598A= | CA1261021353 | ALMS1 | c.10340A= (p.Asn3447=) c.3426A= c.7621A= c.4787A= (p.Asn1596=) c.7666A= c.10721A= (p.Asn3574=) c.875A= (p.Asn292=) c.2077A= c.109A= c.1818A= c.4212A= (n.4212A=) c.10595A= (p.Asn3532=) n.4524A= c.10724A= (p.Asn3575=) | |
2 | g.73572598A>C | CA347285087 | ALMS1 | c.10340A>C (p.Asn3447Thr) c.3426A>C c.7621A>C c.4787A>C (p.Asn1596Thr) c.7666A>C c.10721A>C (p.Asn3574Thr) c.875A>C (p.Asn292Thr) c.2077A>C c.109A>C c.1818A>C c.4212A>C (n.4212A>C) c.10595A>C (p.Asn3532Thr) n.4524A>C c.10724A>C (p.Asn3575Thr) | |
2 | g.73572598A>G | CA50386387 | ALMS1 | c.10340A>G (p.Asn3447Ser) c.3426A>G c.7621A>G c.4787A>G (p.Asn1596Ser) c.7666A>G c.10721A>G (p.Asn3574Ser) c.875A>G (p.Asn292Ser) c.2077A>G c.109A>G c.1818A>G c.4212A>G (n.4212A>G) c.10595A>G (p.Asn3532Ser) n.4524A>G c.10724A>G (p.Asn3575Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572598A>T | CA347285091 | ALMS1 | c.10340A>T (p.Asn3447Ile) c.3426A>T c.7621A>T c.4787A>T (p.Asn1596Ile) c.7666A>T c.10721A>T (p.Asn3574Ile) c.875A>T (p.Asn292Ile) c.2077A>T c.109A>T c.1818A>T c.4212A>T (n.4212A>T) c.10595A>T (p.Asn3532Ile) n.4524A>T c.10724A>T (p.Asn3575Ile) | |
2 | g.73572599T>A | CA347285095 | ALMS1 | c.10341T>A (p.Asn3447Lys) c.3427T>A c.7622T>A c.4788T>A (p.Asn1596Lys) c.7667T>A c.10722T>A (p.Asn3574Lys) c.876T>A (p.Asn292Lys) c.2078T>A c.110T>A c.1819T>A c.4213T>A (n.4213T>A) c.10596T>A (p.Asn3532Lys) n.4525T>A c.10725T>A (p.Asn3575Lys) | |
2 | g.73572599T>C | CA427024230 | ALMS1 | c.10341T>C (p.Asn3447=) c.3427T>C c.7622T>C c.4788T>C (p.Asn1596=) c.7667T>C c.10722T>C (p.Asn3574=) c.876T>C (p.Asn292=) c.2078T>C c.110T>C c.1819T>C c.4213T>C (n.4213T>C) c.10596T>C (p.Asn3532=) n.4525T>C c.10725T>C (p.Asn3575=) | |
2 | g.73572599T>G | CA347285097 | ALMS1 | c.10341T>G (p.Asn3447Lys) c.3427T>G c.7622T>G c.4788T>G (p.Asn1596Lys) c.7667T>G c.10722T>G (p.Asn3574Lys) c.876T>G (p.Asn292Lys) c.2078T>G c.110T>G c.1819T>G c.4213T>G (n.4213T>G) c.10596T>G (p.Asn3532Lys) n.4525T>G c.10725T>G (p.Asn3575Lys) | |
2 | g.73572600G>A | CA1715047 | ALMS1 | c.10342G>A (p.Gly3448Arg) c.3428G>A c.7623G>A c.4789G>A (p.Gly1597Arg) c.7668G>A c.10723G>A (p.Gly3575Arg) c.877G>A (p.Gly293Arg) c.2079G>A c.111G>A c.1820G>A c.4214G>A (n.4214G>A) c.10597G>A (p.Gly3533Arg) n.4526G>A c.10726G>A (p.Gly3576Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572600G>C | CA347285100 | ALMS1 | c.10342G>C (p.Gly3448Arg) c.3428G>C c.7623G>C c.4789G>C (p.Gly1597Arg) c.7668G>C c.10723G>C (p.Gly3575Arg) c.877G>C (p.Gly293Arg) c.2079G>C c.111G>C c.1820G>C c.4214G>C (n.4214G>C) c.10597G>C (p.Gly3533Arg) n.4526G>C c.10726G>C (p.Gly3576Arg) | |
2 | g.73572600G= | CA1261021362 | ALMS1 | c.10342G= (p.Gly3448=) c.3428G= c.7623G= c.4789G= (p.Gly1597=) c.7668G= c.10723G= (p.Gly3575=) c.877G= (p.Gly293=) c.2079G= c.111G= c.1820G= c.4214G= (n.4214G=) c.10597G= (p.Gly3533=) n.4526G= c.10726G= (p.Gly3576=) | |
2 | g.73572600G>T | CA347285102 | ALMS1 | c.10342G>T (p.Gly3448Ter) c.3428G>T c.7623G>T c.4789G>T (p.Gly1597Ter) c.7668G>T c.10723G>T (p.Gly3575Ter) c.877G>T (p.Gly293Ter) c.2079G>T c.111G>T c.1820G>T c.4214G>T (n.4214G>T) c.10597G>T (p.Gly3533Ter) n.4526G>T c.10726G>T (p.Gly3576Ter) | |
2 | g.73572601G>A | CA1715048 | ALMS1 | c.10343G>A (p.Gly3448Glu) c.3429G>A c.7624G>A c.4790G>A (p.Gly1597Glu) c.7669G>A c.10724G>A (p.Gly3575Glu) c.878G>A (p.Gly293Glu) c.2080G>A c.112G>A c.1821G>A c.4215G>A (n.4215G>A) c.10598G>A (p.Gly3533Glu) n.4527G>A c.10727G>A (p.Gly3576Glu) | dbSNP ExAC gnomAD v4 |
2 | g.73572601G>C | CA347285112 | ALMS1 | c.10343G>C (p.Gly3448Ala) c.3429G>C c.7624G>C c.4790G>C (p.Gly1597Ala) c.7669G>C c.10724G>C (p.Gly3575Ala) c.878G>C (p.Gly293Ala) c.2080G>C c.112G>C c.1821G>C c.4215G>C (n.4215G>C) c.10598G>C (p.Gly3533Ala) n.4527G>C c.10727G>C (p.Gly3576Ala) | dbSNP |
2 | g.73572601G= | CA1261021370 | ALMS1 | c.10343G= (p.Gly3448=) c.3429G= c.7624G= c.4790G= (p.Gly1597=) c.7669G= c.10724G= (p.Gly3575=) c.878G= (p.Gly293=) c.2080G= c.112G= c.1821G= c.4215G= (n.4215G=) c.10598G= (p.Gly3533=) n.4527G= c.10727G= (p.Gly3576=) | |
2 | g.73572601G>T | CA347285108 | ALMS1 | c.10343G>T (p.Gly3448Val) c.3429G>T c.7624G>T c.4790G>T (p.Gly1597Val) c.7669G>T c.10724G>T (p.Gly3575Val) c.878G>T (p.Gly293Val) c.2080G>T c.112G>T c.1821G>T c.4215G>T (n.4215G>T) c.10598G>T (p.Gly3533Val) n.4527G>T c.10727G>T (p.Gly3576Val) | |
2 | g.73572602A>C | CA427024232 | ALMS1 | c.10344A>C (p.Gly3448=) c.3430A>C c.7625A>C c.4791A>C (p.Gly1597=) c.7670A>C c.10725A>C (p.Gly3575=) c.879A>C (p.Gly293=) c.2081A>C c.113A>C c.1822A>C c.4216A>C (n.4216A>C) c.10599A>C (p.Gly3533=) n.4528A>C c.10728A>C (p.Gly3576=) | |
2 | g.73572602A>G | CA427024233 | ALMS1 | c.10344A>G (p.Gly3448=) c.3430A>G c.7625A>G c.4791A>G (p.Gly1597=) c.7670A>G c.10725A>G (p.Gly3575=) c.879A>G (p.Gly293=) c.2081A>G c.113A>G c.1822A>G c.4216A>G (n.4216A>G) c.10599A>G (p.Gly3533=) n.4528A>G c.10728A>G (p.Gly3576=) | |
2 | g.73572602A>T | CA427024234 | ALMS1 | c.10344A>T (p.Gly3448=) c.3430A>T c.7625A>T c.4791A>T (p.Gly1597=) c.7670A>T c.10725A>T (p.Gly3575=) c.879A>T (p.Gly293=) c.2081A>T c.113A>T c.1822A>T c.4216A>T (n.4216A>T) c.10599A>T (p.Gly3533=) n.4528A>T c.10728A>T (p.Gly3576=) | |
2 | g.73572603C>A | CA347285120 | ALMS1 | c.10345C>A (p.Gln3449Lys) c.3431C>A c.7626C>A c.4792C>A (p.Gln1598Lys) c.7671C>A c.10726C>A (p.Gln3576Lys) c.880C>A (p.Gln294Lys) c.2082C>A c.114C>A c.1823C>A c.4217C>A (n.4217C>A) c.10600C>A (p.Gln3534Lys) n.4529C>A c.10729C>A (p.Gln3577Lys) | gnomAD v4 |
2 | g.73572603C= | CA1261021375 | ALMS1 | c.10345C= (p.Gln3449=) c.3431C= c.7626C= c.4792C= (p.Gln1598=) c.7671C= c.10726C= (p.Gln3576=) c.880C= (p.Gln294=) c.2082C= c.114C= c.1823C= c.4217C= (n.4217C=) c.10600C= (p.Gln3534=) n.4529C= c.10729C= (p.Gln3577=) | |
2 | g.73572603C>G | CA347285115 | ALMS1 | c.10345C>G (p.Gln3449Glu) c.3431C>G c.7626C>G c.4792C>G (p.Gln1598Glu) c.7671C>G c.10726C>G (p.Gln3576Glu) c.880C>G (p.Gln294Glu) c.2082C>G c.114C>G c.1823C>G c.4217C>G (n.4217C>G) c.10600C>G (p.Gln3534Glu) n.4529C>G c.10729C>G (p.Gln3577Glu) | gnomAD v4 |
2 | g.73572603C>T | CA347285118 | ALMS1 | c.10345C>T (p.Gln3449Ter) c.3431C>T c.7626C>T c.4792C>T (p.Gln1598Ter) c.7671C>T c.10726C>T (p.Gln3576Ter) c.880C>T (p.Gln294Ter) c.2082C>T c.114C>T c.1823C>T c.4217C>T (n.4217C>T) c.10600C>T (p.Gln3534Ter) n.4529C>T c.10729C>T (p.Gln3577Ter) | dbSNP gnomAD v2 |
2 | g.73572604A= | CA1261021380 | ALMS1 | c.10346A= (p.Gln3449=) c.3432A= c.7627A= c.4793A= (p.Gln1598=) c.7672A= c.10727A= (p.Gln3576=) c.881A= (p.Gln294=) c.2083A= c.115A= c.1824A= c.4218A= (n.4218A=) c.10601A= (p.Gln3534=) n.4530A= c.10730A= (p.Gln3577=) | |
2 | g.73572604A>C | CA347285124 | ALMS1 | c.10346A>C (p.Gln3449Pro) c.3432A>C c.7627A>C c.4793A>C (p.Gln1598Pro) c.7672A>C c.10727A>C (p.Gln3576Pro) c.881A>C (p.Gln294Pro) c.2083A>C c.115A>C c.1824A>C c.4218A>C (n.4218A>C) c.10601A>C (p.Gln3534Pro) n.4530A>C c.10730A>C (p.Gln3577Pro) | |
2 | g.73572604A>G | CA347285125 | ALMS1 | c.10346A>G (p.Gln3449Arg) c.3432A>G c.7627A>G c.4793A>G (p.Gln1598Arg) c.7672A>G c.10727A>G (p.Gln3576Arg) c.881A>G (p.Gln294Arg) c.2083A>G c.115A>G c.1824A>G c.4218A>G (n.4218A>G) c.10601A>G (p.Gln3534Arg) n.4530A>G c.10730A>G (p.Gln3577Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572604A>T | CA347285127 | ALMS1 | c.10346A>T (p.Gln3449Leu) c.3432A>T c.7627A>T c.4793A>T (p.Gln1598Leu) c.7672A>T c.10727A>T (p.Gln3576Leu) c.881A>T (p.Gln294Leu) c.2083A>T c.115A>T c.1824A>T c.4218A>T (n.4218A>T) c.10601A>T (p.Gln3534Leu) n.4530A>T c.10730A>T (p.Gln3577Leu) | |
2 | g.73572605A>C | CA347285131 | ALMS1 | c.10347A>C (p.Gln3449His) c.3433A>C c.7628A>C c.4794A>C (p.Gln1598His) c.7673A>C c.10728A>C (p.Gln3576His) c.882A>C (p.Gln294His) c.2084A>C c.116A>C c.1825A>C c.4219A>C (n.4219A>C) c.10602A>C (p.Gln3534His) n.4531A>C c.10731A>C (p.Gln3577His) | |
2 | g.73572605A>G | CA427024235 | ALMS1 | c.10347A>G (p.Gln3449=) c.3433A>G c.7628A>G c.4794A>G (p.Gln1598=) c.7673A>G c.10728A>G (p.Gln3576=) c.882A>G (p.Gln294=) c.2084A>G c.116A>G c.1825A>G c.4219A>G (n.4219A>G) c.10602A>G (p.Gln3534=) n.4531A>G c.10731A>G (p.Gln3577=) | ClinVar |
2 | g.73572605A>T | CA347285133 | ALMS1 | c.10347A>T (p.Gln3449His) c.3433A>T c.7628A>T c.4794A>T (p.Gln1598His) c.7673A>T c.10728A>T (p.Gln3576His) c.882A>T (p.Gln294His) c.2084A>T c.116A>T c.1825A>T c.4219A>T (n.4219A>T) c.10602A>T (p.Gln3534His) n.4531A>T c.10731A>T (p.Gln3577His) | |
2 | g.73572606A>C | CA347285135 | ALMS1 | c.10348A>C (p.Ile3450Leu) c.3434A>C c.7629A>C c.4795A>C (p.Ile1599Leu) c.7674A>C c.10729A>C (p.Ile3577Leu) c.883A>C (p.Ile295Leu) c.2085A>C c.117A>C c.1826A>C c.4220A>C (n.4220A>C) c.10603A>C (p.Ile3535Leu) n.4532A>C c.10732A>C (p.Ile3578Leu) | |
2 | g.73572606A>G | CA347285138 | ALMS1 | c.10348A>G (p.Ile3450Val) c.3434A>G c.7629A>G c.4795A>G (p.Ile1599Val) c.7674A>G c.10729A>G (p.Ile3577Val) c.883A>G (p.Ile295Val) c.2085A>G c.117A>G c.1826A>G c.4220A>G (n.4220A>G) c.10603A>G (p.Ile3535Val) n.4532A>G c.10732A>G (p.Ile3578Val) | |
2 | g.73572606A>T | CA347285137 | ALMS1 | c.10348A>T (p.Ile3450Phe) c.3434A>T c.7629A>T c.4795A>T (p.Ile1599Phe) c.7674A>T c.10729A>T (p.Ile3577Phe) c.883A>T (p.Ile295Phe) c.2085A>T c.117A>T c.1826A>T c.4220A>T (n.4220A>T) c.10603A>T (p.Ile3535Phe) n.4532A>T c.10732A>T (p.Ile3578Phe) | |
2 | g.73572607T>A | CA347285141 | ALMS1 | c.10349T>A (p.Ile3450Asn) c.3435T>A c.7630T>A c.4796T>A (p.Ile1599Asn) c.7675T>A c.10730T>A (p.Ile3577Asn) c.884T>A (p.Ile295Asn) c.2086T>A c.118T>A c.1827T>A c.4221T>A (n.4221T>A) c.10604T>A (p.Ile3535Asn) n.4533T>A c.10733T>A (p.Ile3578Asn) | |
2 | g.73572607T>C | CA347285142 | ALMS1 | c.10349T>C (p.Ile3450Thr) c.3435T>C c.7630T>C c.4796T>C (p.Ile1599Thr) c.7675T>C c.10730T>C (p.Ile3577Thr) c.884T>C (p.Ile295Thr) c.2086T>C c.118T>C c.1827T>C c.4221T>C (n.4221T>C) c.10604T>C (p.Ile3535Thr) n.4533T>C c.10733T>C (p.Ile3578Thr) | |
2 | g.73572607T>G | CA347285144 | ALMS1 | c.10349T>G (p.Ile3450Ser) c.3435T>G c.7630T>G c.4796T>G (p.Ile1599Ser) c.7675T>G c.10730T>G (p.Ile3577Ser) c.884T>G (p.Ile295Ser) c.2086T>G c.118T>G c.1827T>G c.4221T>G (n.4221T>G) c.10604T>G (p.Ile3535Ser) n.4533T>G c.10733T>G (p.Ile3578Ser) | |
2 | g.73572608T>A | CA427024240 | ALMS1 | c.10350T>A (p.Ile3450=) c.3436T>A c.7631T>A c.4797T>A (p.Ile1599=) c.7676T>A c.10731T>A (p.Ile3577=) c.885T>A (p.Ile295=) c.2087T>A c.119T>A c.1828T>A c.4222T>A (n.4222T>A) c.10605T>A (p.Ile3535=) n.4534T>A c.10734T>A (p.Ile3578=) | |
2 | g.73572608T>C | CA427024239 | ALMS1 | c.10350T>C (p.Ile3450=) c.3436T>C c.7631T>C c.4797T>C (p.Ile1599=) c.7676T>C c.10731T>C (p.Ile3577=) c.885T>C (p.Ile295=) c.2087T>C c.119T>C c.1828T>C c.4222T>C (n.4222T>C) c.10605T>C (p.Ile3535=) n.4534T>C c.10734T>C (p.Ile3578=) | ClinVar dbSNP gnomAD v4 |
2 | g.73572608T>G | CA347285146 | ALMS1 | c.10350T>G (p.Ile3450Met) c.3436T>G c.7631T>G c.4797T>G (p.Ile1599Met) c.7676T>G c.10731T>G (p.Ile3577Met) c.885T>G (p.Ile295Met) c.2087T>G c.119T>G c.1828T>G c.4222T>G (n.4222T>G) c.10605T>G (p.Ile3535Met) n.4534T>G c.10734T>G (p.Ile3578Met) | |
2 | g.73572608T= | CA1261021387 | ALMS1 | c.10350T= (p.Ile3450=) c.3436T= c.7631T= c.4797T= (p.Ile1599=) c.7676T= c.10731T= (p.Ile3577=) c.885T= (p.Ile295=) c.2087T= c.119T= c.1828T= c.4222T= (n.4222T=) c.10605T= (p.Ile3535=) n.4534T= c.10734T= (p.Ile3578=) | |
2 | g.73572609A>C | CA347285148 | ALMS1 | c.10351A>C (p.Ser3451Arg) c.3437A>C c.7632A>C c.4798A>C (p.Ser1600Arg) c.7677A>C c.10732A>C (p.Ser3578Arg) c.886A>C (p.Ser296Arg) c.2088A>C c.120A>C c.1829A>C c.4223A>C (n.4223A>C) c.10606A>C (p.Ser3536Arg) n.4535A>C c.10735A>C (p.Ser3579Arg) | |
2 | g.73572609A>G | CA347285152 | ALMS1 | c.10351A>G (p.Ser3451Gly) c.3437A>G c.7632A>G c.4798A>G (p.Ser1600Gly) c.7677A>G c.10732A>G (p.Ser3578Gly) c.886A>G (p.Ser296Gly) c.2088A>G c.120A>G c.1829A>G c.4223A>G (n.4223A>G) c.10606A>G (p.Ser3536Gly) n.4535A>G c.10735A>G (p.Ser3579Gly) | gnomAD v4 |
2 | g.73572609A>T | CA347285150 | ALMS1 | c.10351A>T (p.Ser3451Cys) c.3437A>T c.7632A>T c.4798A>T (p.Ser1600Cys) c.7677A>T c.10732A>T (p.Ser3578Cys) c.886A>T (p.Ser296Cys) c.2088A>T c.120A>T c.1829A>T c.4223A>T (n.4223A>T) c.10606A>T (p.Ser3536Cys) n.4535A>T c.10735A>T (p.Ser3579Cys) | |
2 | g.73572610G>A | CA347285155 | ALMS1 | c.10352G>A (p.Ser3451Asn) c.3438G>A c.7633G>A c.4799G>A (p.Ser1600Asn) c.7678G>A c.10733G>A (p.Ser3578Asn) c.887G>A (p.Ser296Asn) c.2089G>A c.121G>A c.1830G>A c.4224G>A (n.4224G>A) c.10607G>A (p.Ser3536Asn) n.4536G>A c.10736G>A (p.Ser3579Asn) | ClinVar dbSNP |
2 | g.73572610G>C | CA347285156 | ALMS1 | c.10352G>C (p.Ser3451Thr) c.3438G>C c.7633G>C c.4799G>C (p.Ser1600Thr) c.7678G>C c.10733G>C (p.Ser3578Thr) c.887G>C (p.Ser296Thr) c.2089G>C c.121G>C c.1830G>C c.4224G>C (n.4224G>C) c.10607G>C (p.Ser3536Thr) n.4536G>C c.10736G>C (p.Ser3579Thr) | |
2 | g.73572610G= | CA1261021392 | ALMS1 | c.10352G= (p.Ser3451=) c.3438G= c.7633G= c.4799G= (p.Ser1600=) c.7678G= c.10733G= (p.Ser3578=) c.887G= (p.Ser296=) c.2089G= c.121G= c.1830G= c.4224G= (n.4224G=) c.10607G= (p.Ser3536=) n.4536G= c.10736G= (p.Ser3579=) | |
2 | g.73572610G>T | CA347285158 | ALMS1 | c.10352G>T (p.Ser3451Ile) c.3438G>T c.7633G>T c.4799G>T (p.Ser1600Ile) c.7678G>T c.10733G>T (p.Ser3578Ile) c.887G>T (p.Ser296Ile) c.2089G>T c.121G>T c.1830G>T c.4224G>T (n.4224G>T) c.10607G>T (p.Ser3536Ile) n.4536G>T c.10736G>T (p.Ser3579Ile) | |
2 | g.73572611T>A | CA347285160 | ALMS1 | c.10353T>A (p.Ser3451Arg) c.3439T>A c.7634T>A c.4800T>A (p.Ser1600Arg) c.7679T>A c.10734T>A (p.Ser3578Arg) c.888T>A (p.Ser296Arg) c.2090T>A c.122T>A c.1831T>A c.4225T>A (n.4225T>A) c.10608T>A (p.Ser3536Arg) n.4537T>A c.10737T>A (p.Ser3579Arg) | |
2 | g.73572611T>C | CA427024369 | ALMS1 | c.10353T>C (p.Ser3451=) c.3439T>C c.7634T>C c.4800T>C (p.Ser1600=) c.7679T>C c.10734T>C (p.Ser3578=) c.888T>C (p.Ser296=) c.2090T>C c.122T>C c.1831T>C c.4225T>C (n.4225T>C) c.10608T>C (p.Ser3536=) n.4537T>C c.10737T>C (p.Ser3579=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572611T>G | CA347285162 | ALMS1 | c.10353T>G (p.Ser3451Arg) c.3439T>G c.7634T>G c.4800T>G (p.Ser1600Arg) c.7679T>G c.10734T>G (p.Ser3578Arg) c.888T>G (p.Ser296Arg) c.2090T>G c.122T>G c.1831T>G c.4225T>G (n.4225T>G) c.10608T>G (p.Ser3536Arg) n.4537T>G c.10737T>G (p.Ser3579Arg) | dbSNP gnomAD v4 |
2 | g.73572611T= | CA1261021398 | ALMS1 | c.10353T= (p.Ser3451=) c.3439T= c.7634T= c.4800T= (p.Ser1600=) c.7679T= c.10734T= (p.Ser3578=) c.888T= (p.Ser296=) c.2090T= c.122T= c.1831T= c.4225T= (n.4225T=) c.10608T= (p.Ser3536=) n.4537T= c.10737T= (p.Ser3579=) | |
2 | g.73572612G>A | CA347285166 | ALMS1 | c.10354G>A (p.Asp3452Asn) c.3440G>A c.7635G>A c.4801G>A (p.Asp1601Asn) c.7680G>A c.10735G>A (p.Asp3579Asn) c.889G>A (p.Asp297Asn) c.2091G>A c.123G>A c.1832G>A c.4226G>A (n.4226G>A) c.10609G>A (p.Asp3537Asn) n.4538G>A c.10738G>A (p.Asp3580Asn) | dbSNP gnomAD v2 |
2 | g.73572612G>C | CA347285168 | ALMS1 | c.10354G>C (p.Asp3452His) c.3440G>C c.7635G>C c.4801G>C (p.Asp1601His) c.7680G>C c.10735G>C (p.Asp3579His) c.889G>C (p.Asp297His) c.2091G>C c.123G>C c.1832G>C c.4226G>C (n.4226G>C) c.10609G>C (p.Asp3537His) n.4538G>C c.10738G>C (p.Asp3580His) | ClinVar dbSNP |
2 | g.73572612G= | CA1261021404 | ALMS1 | c.10354G= (p.Asp3452=) c.3440G= c.7635G= c.4801G= (p.Asp1601=) c.7680G= c.10735G= (p.Asp3579=) c.889G= (p.Asp297=) c.2091G= c.123G= c.1832G= c.4226G= (n.4226G=) c.10609G= (p.Asp3537=) n.4538G= c.10738G= (p.Asp3580=) | |
2 | g.73572612G>T | CA347285170 | ALMS1 | c.10354G>T (p.Asp3452Tyr) c.3440G>T c.7635G>T c.4801G>T (p.Asp1601Tyr) c.7680G>T c.10735G>T (p.Asp3579Tyr) c.889G>T (p.Asp297Tyr) c.2091G>T c.123G>T c.1832G>T c.4226G>T (n.4226G>T) c.10609G>T (p.Asp3537Tyr) n.4538G>T c.10738G>T (p.Asp3580Tyr) | |
2 | g.73572613A= | CA1261021409 | ALMS1 | c.10355A= (p.Asp3452=) c.3441A= c.7636A= c.4802A= (p.Asp1601=) c.7681A= c.10736A= (p.Asp3579=) c.890A= (p.Asp297=) c.2092A= c.124A= c.1833A= c.4227A= (n.4227A=) c.10610A= (p.Asp3537=) n.4539A= c.10739A= (p.Asp3580=) | |
2 | g.73572613A>C | CA347285174 | ALMS1 | c.10355A>C (p.Asp3452Ala) c.3441A>C c.7636A>C c.4802A>C (p.Asp1601Ala) c.7681A>C c.10736A>C (p.Asp3579Ala) c.890A>C (p.Asp297Ala) c.2092A>C c.124A>C c.1833A>C c.4227A>C (n.4227A>C) c.10610A>C (p.Asp3537Ala) n.4539A>C c.10739A>C (p.Asp3580Ala) | |
2 | g.73572613A>G | CA1715049 | ALMS1 | c.10355A>G (p.Asp3452Gly) c.3441A>G c.7636A>G c.4802A>G (p.Asp1601Gly) c.7681A>G c.10736A>G (p.Asp3579Gly) c.890A>G (p.Asp297Gly) c.2092A>G c.124A>G c.1833A>G c.4227A>G (n.4227A>G) c.10610A>G (p.Asp3537Gly) n.4539A>G c.10739A>G (p.Asp3580Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572613A>T | CA347285179 | ALMS1 | c.10355A>T (p.Asp3452Val) c.3441A>T c.7636A>T c.4802A>T (p.Asp1601Val) c.7681A>T c.10736A>T (p.Asp3579Val) c.890A>T (p.Asp297Val) c.2092A>T c.124A>T c.1833A>T c.4227A>T (n.4227A>T) c.10610A>T (p.Asp3537Val) n.4539A>T c.10739A>T (p.Asp3580Val) | |
2 | g.73572614T>A | CA347285182 | ALMS1 | c.10356T>A (p.Asp3452Glu) c.3442T>A c.7637T>A c.4803T>A (p.Asp1601Glu) c.7682T>A c.10737T>A (p.Asp3579Glu) c.891T>A (p.Asp297Glu) c.2093T>A c.125T>A c.1834T>A c.4228T>A (n.4228T>A) c.10611T>A (p.Asp3537Glu) n.4540T>A c.10740T>A (p.Asp3580Glu) | |
2 | g.73572614T>C | CA427024374 | ALMS1 | c.10356T>C (p.Asp3452=) c.3442T>C c.7637T>C c.4803T>C (p.Asp1601=) c.7682T>C c.10737T>C (p.Asp3579=) c.891T>C (p.Asp297=) c.2093T>C c.125T>C c.1834T>C c.4228T>C (n.4228T>C) c.10611T>C (p.Asp3537=) n.4540T>C c.10740T>C (p.Asp3580=) | |
2 | g.73572614T>G | CA347285184 | ALMS1 | c.10356T>G (p.Asp3452Glu) c.3442T>G c.7637T>G c.4803T>G (p.Asp1601Glu) c.7682T>G c.10737T>G (p.Asp3579Glu) c.891T>G (p.Asp297Glu) c.2093T>G c.125T>G c.1834T>G c.4228T>G (n.4228T>G) c.10611T>G (p.Asp3537Glu) n.4540T>G c.10740T>G (p.Asp3580Glu) | gnomAD v4 |
2 | g.73572615C>A | CA347285187 | ALMS1 | c.10357C>A (p.Pro3453Thr) c.3443C>A c.7638C>A c.4804C>A (p.Pro1602Thr) c.7683C>A c.10738C>A (p.Pro3580Thr) c.892C>A (p.Pro298Thr) c.2094C>A c.126C>A c.1835C>A c.4229C>A (n.4229C>A) c.10612C>A (p.Pro3538Thr) n.4541C>A c.10741C>A (p.Pro3581Thr) | dbSNP |
2 | g.73572615C= | CA1261021413 | ALMS1 | c.10357C= (p.Pro3453=) c.3443C= c.7638C= c.4804C= (p.Pro1602=) c.7683C= c.10738C= (p.Pro3580=) c.892C= (p.Pro298=) c.2094C= c.126C= c.1835C= c.4229C= (n.4229C=) c.10612C= (p.Pro3538=) n.4541C= c.10741C= (p.Pro3581=) | |
2 | g.73572615C>G | CA1715050 | ALMS1 | c.10357C>G (p.Pro3453Ala) c.3443C>G c.7638C>G c.4804C>G (p.Pro1602Ala) c.7683C>G c.10738C>G (p.Pro3580Ala) c.892C>G (p.Pro298Ala) c.2094C>G c.126C>G c.1835C>G c.4229C>G (n.4229C>G) c.10612C>G (p.Pro3538Ala) n.4541C>G c.10741C>G (p.Pro3581Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572615C>T | CA347285191 | ALMS1 | c.10357C>T (p.Pro3453Ser) c.3443C>T c.7638C>T c.4804C>T (p.Pro1602Ser) c.7683C>T c.10738C>T (p.Pro3580Ser) c.892C>T (p.Pro298Ser) c.2094C>T c.126C>T c.1835C>T c.4229C>T (n.4229C>T) c.10612C>T (p.Pro3538Ser) n.4541C>T c.10741C>T (p.Pro3581Ser) | |
2 | g.73572616C>A | CA347285194 | ALMS1 | c.10358C>A (p.Pro3453Gln) c.3444C>A c.7639C>A c.4805C>A (p.Pro1602Gln) c.7684C>A c.10739C>A (p.Pro3580Gln) c.893C>A (p.Pro298Gln) c.2095C>A c.127C>A c.1836C>A c.4230C>A (n.4230C>A) c.10613C>A (p.Pro3538Gln) n.4542C>A c.10742C>A (p.Pro3581Gln) | |
2 | g.73572616C>G | CA347285197 | ALMS1 | c.10358C>G (p.Pro3453Arg) c.3444C>G c.7639C>G c.4805C>G (p.Pro1602Arg) c.7684C>G c.10739C>G (p.Pro3580Arg) c.893C>G (p.Pro298Arg) c.2095C>G c.127C>G c.1836C>G c.4230C>G (n.4230C>G) c.10613C>G (p.Pro3538Arg) n.4542C>G c.10742C>G (p.Pro3581Arg) | |
2 | g.73572616C>T | CA347285199 | ALMS1 | c.10358C>T (p.Pro3453Leu) c.3444C>T c.7639C>T c.4805C>T (p.Pro1602Leu) c.7684C>T c.10739C>T (p.Pro3580Leu) c.893C>T (p.Pro298Leu) c.2095C>T c.127C>T c.1836C>T c.4230C>T (n.4230C>T) c.10613C>T (p.Pro3538Leu) n.4542C>T c.10742C>T (p.Pro3581Leu) | |
2 | g.73572617A>C | CA427024381 | ALMS1 | c.10359A>C (p.Pro3453=) c.3445A>C c.7640A>C c.4806A>C (p.Pro1602=) c.7685A>C c.10740A>C (p.Pro3580=) c.894A>C (p.Pro298=) c.2096A>C c.128A>C c.1837A>C c.4231A>C (n.4231A>C) c.10614A>C (p.Pro3538=) n.4543A>C c.10743A>C (p.Pro3581=) | gnomAD v4 |
2 | g.73572617A>G | CA427024383 | ALMS1 | c.10359A>G (p.Pro3453=) c.3445A>G c.7640A>G c.4806A>G (p.Pro1602=) c.7685A>G c.10740A>G (p.Pro3580=) c.894A>G (p.Pro298=) c.2096A>G c.128A>G c.1837A>G c.4231A>G (n.4231A>G) c.10614A>G (p.Pro3538=) n.4543A>G c.10743A>G (p.Pro3581=) | |
2 | g.73572617A>T | CA427024386 | ALMS1 | c.10359A>T (p.Pro3453=) c.3445A>T c.7640A>T c.4806A>T (p.Pro1602=) c.7685A>T c.10740A>T (p.Pro3580=) c.894A>T (p.Pro298=) c.2096A>T c.128A>T c.1837A>T c.4231A>T (n.4231A>T) c.10614A>T (p.Pro3538=) n.4543A>T c.10743A>T (p.Pro3581=) | |
2 | g.73572618C>A | CA347285203 | ALMS1 | c.10360C>A (p.Gln3454Lys) c.3446C>A c.7641C>A c.4807C>A (p.Gln1603Lys) c.7686C>A c.10741C>A (p.Gln3581Lys) c.895C>A (p.Gln299Lys) c.2097C>A c.129C>A c.1838C>A c.4232C>A (n.4232C>A) c.10615C>A (p.Gln3539Lys) n.4544C>A c.10744C>A (p.Gln3582Lys) | dbSNP |
2 | g.73572618C>G | CA347285206 | ALMS1 | c.10360C>G (p.Gln3454Glu) c.3446C>G c.7641C>G c.4807C>G (p.Gln1603Glu) c.7686C>G c.10741C>G (p.Gln3581Glu) c.895C>G (p.Gln299Glu) c.2097C>G c.129C>G c.1838C>G c.4232C>G (n.4232C>G) c.10615C>G (p.Gln3539Glu) n.4544C>G c.10744C>G (p.Gln3582Glu) | |
2 | g.73572618C>T | CA347285207 | ALMS1 | c.10360C>T (p.Gln3454Ter) c.3446C>T c.7641C>T c.4807C>T (p.Gln1603Ter) c.7686C>T c.10741C>T (p.Gln3581Ter) c.895C>T (p.Gln299Ter) c.2097C>T c.129C>T c.1838C>T c.4232C>T (n.4232C>T) c.10615C>T (p.Gln3539Ter) n.4544C>T c.10744C>T (p.Gln3582Ter) | |
2 | g.73572619A= | CA1261021420 | ALMS1 | c.10361A= (p.Gln3454=) c.3447A= c.7642A= c.4808A= (p.Gln1603=) c.7687A= c.10742A= (p.Gln3581=) c.896A= (p.Gln299=) c.2098A= c.130A= c.1839A= c.4233A= (n.4233A=) c.10616A= (p.Gln3539=) n.4545A= c.10745A= (p.Gln3582=) | |
2 | g.73572619A>C | CA347285212 | ALMS1 | c.10361A>C (p.Gln3454Pro) c.3447A>C c.7642A>C c.4808A>C (p.Gln1603Pro) c.7687A>C c.10742A>C (p.Gln3581Pro) c.896A>C (p.Gln299Pro) c.2098A>C c.130A>C c.1839A>C c.4233A>C (n.4233A>C) c.10616A>C (p.Gln3539Pro) n.4545A>C c.10745A>C (p.Gln3582Pro) | |
2 | g.73572619A>G | CA50386396 | ALMS1 | c.10361A>G (p.Gln3454Arg) c.3447A>G c.7642A>G c.4808A>G (p.Gln1603Arg) c.7687A>G c.10742A>G (p.Gln3581Arg) c.896A>G (p.Gln299Arg) c.2098A>G c.130A>G c.1839A>G c.4233A>G (n.4233A>G) c.10616A>G (p.Gln3539Arg) n.4545A>G c.10745A>G (p.Gln3582Arg) | dbSNP gnomAD v4 |
2 | g.73572619A>T | CA347285215 | ALMS1 | c.10361A>T (p.Gln3454Leu) c.3447A>T c.7642A>T c.4808A>T (p.Gln1603Leu) c.7687A>T c.10742A>T (p.Gln3581Leu) c.896A>T (p.Gln299Leu) c.2098A>T c.130A>T c.1839A>T c.4233A>T (n.4233A>T) c.10616A>T (p.Gln3539Leu) n.4545A>T c.10745A>T (p.Gln3582Leu) | |
2 | g.73572620A= | CA1261021424 | ALMS1 | c.10362A= (p.Gln3454=) c.3448A= c.7643A= c.4809A= (p.Gln1603=) c.7688A= c.10743A= (p.Gln3581=) c.897A= (p.Gln299=) c.2099A= c.131A= c.1840A= c.4234A= (n.4234A=) c.10617A= (p.Gln3539=) n.4546A= c.10746A= (p.Gln3582=) | |
2 | g.73572620A>C | CA1715051 | ALMS1 | c.10362A>C (p.Gln3454His) c.3448A>C c.7643A>C c.4809A>C (p.Gln1603His) c.7688A>C c.10743A>C (p.Gln3581His) c.897A>C (p.Gln299His) c.2099A>C c.131A>C c.1840A>C c.4234A>C (n.4234A>C) c.10617A>C (p.Gln3539His) n.4546A>C c.10746A>C (p.Gln3582His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572620A>G | CA427024393 | ALMS1 | c.10362A>G (p.Gln3454=) c.3448A>G c.7643A>G c.4809A>G (p.Gln1603=) c.7688A>G c.10743A>G (p.Gln3581=) c.897A>G (p.Gln299=) c.2099A>G c.131A>G c.1840A>G c.4234A>G (n.4234A>G) c.10617A>G (p.Gln3539=) n.4546A>G c.10746A>G (p.Gln3582=) | ClinVar |
2 | g.73572620A>T | CA347285218 | ALMS1 | c.10362A>T (p.Gln3454His) c.3448A>T c.7643A>T c.4809A>T (p.Gln1603His) c.7688A>T c.10743A>T (p.Gln3581His) c.897A>T (p.Gln299His) c.2099A>T c.131A>T c.1840A>T c.4234A>T (n.4234A>T) c.10617A>T (p.Gln3539His) n.4546A>T c.10746A>T (p.Gln3582His) | |
2 | g.73572621A>C | CA427024399 | ALMS1 | c.10363A>C (p.Arg3455=) c.3449A>C c.7644A>C c.4810A>C (p.Arg1604=) c.7689A>C c.10744A>C (p.Arg3582=) c.898A>C (p.Arg300=) c.2100A>C c.132A>C c.1841A>C c.4235A>C (n.4235A>C) c.10618A>C (p.Arg3540=) n.4547A>C c.10747A>C (p.Arg3583=) | |
2 | g.73572621A>G | CA347285222 | ALMS1 | c.10363A>G (p.Arg3455Gly) c.3449A>G c.7644A>G c.4810A>G (p.Arg1604Gly) c.7689A>G c.10744A>G (p.Arg3582Gly) c.898A>G (p.Arg300Gly) c.2100A>G c.132A>G c.1841A>G c.4235A>G (n.4235A>G) c.10618A>G (p.Arg3540Gly) n.4547A>G c.10747A>G (p.Arg3583Gly) | gnomAD v4 |
2 | g.73572621A>T | CA347285224 | ALMS1 | c.10363A>T (p.Arg3455Trp) c.3449A>T c.7644A>T c.4810A>T (p.Arg1604Trp) c.7689A>T c.10744A>T (p.Arg3582Trp) c.898A>T (p.Arg300Trp) c.2100A>T c.132A>T c.1841A>T c.4235A>T (n.4235A>T) c.10618A>T (p.Arg3540Trp) n.4547A>T c.10747A>T (p.Arg3583Trp) | |
2 | g.73572622G>A | CA347285227 | ALMS1 | c.10364G>A (p.Arg3455Lys) c.3450G>A c.7645G>A c.4811G>A (p.Arg1604Lys) c.7690G>A c.10745G>A (p.Arg3582Lys) c.899G>A (p.Arg300Lys) c.2101G>A c.133G>A c.1842G>A c.4236G>A (n.4236G>A) c.10619G>A (p.Arg3540Lys) n.4548G>A c.10748G>A (p.Arg3583Lys) | gnomAD v4 |
2 | g.73572622G>C | CA347285229 | ALMS1 | c.10364G>C (p.Arg3455Thr) c.3450G>C c.7645G>C c.4811G>C (p.Arg1604Thr) c.7690G>C c.10745G>C (p.Arg3582Thr) c.899G>C (p.Arg300Thr) c.2101G>C c.133G>C c.1842G>C c.4236G>C (n.4236G>C) c.10619G>C (p.Arg3540Thr) n.4548G>C c.10748G>C (p.Arg3583Thr) | |
2 | g.73572622G>T | CA347285232 | ALMS1 | c.10364G>T (p.Arg3455Met) c.3450G>T c.7645G>T c.4811G>T (p.Arg1604Met) c.7690G>T c.10745G>T (p.Arg3582Met) c.899G>T (p.Arg300Met) c.2101G>T c.133G>T c.1842G>T c.4236G>T (n.4236G>T) c.10619G>T (p.Arg3540Met) n.4548G>T c.10748G>T (p.Arg3583Met) | |
2 | g.73572623G>A | CA427024405 | ALMS1 | c.10365G>A (p.Arg3455=) c.3451G>A c.7646G>A c.4812G>A (p.Arg1604=) c.7691G>A c.10746G>A (p.Arg3582=) c.900G>A (p.Arg300=) c.2102G>A c.134G>A c.1843G>A c.4237G>A (n.4237G>A) c.10620G>A (p.Arg3540=) n.4549G>A c.10749G>A (p.Arg3583=) | |
2 | g.73572623G>C | CA347285235 | ALMS1 | c.10365G>C (p.Arg3455Ser) c.3451G>C c.7646G>C c.4812G>C (p.Arg1604Ser) c.7691G>C c.10746G>C (p.Arg3582Ser) c.900G>C (p.Arg300Ser) c.2102G>C c.134G>C c.1843G>C c.4237G>C (n.4237G>C) c.10620G>C (p.Arg3540Ser) n.4549G>C c.10749G>C (p.Arg3583Ser) | |
2 | g.73572623G>T | CA347285237 | ALMS1 | c.10365G>T (p.Arg3455Ser) c.3451G>T c.7646G>T c.4812G>T (p.Arg1604Ser) c.7691G>T c.10746G>T (p.Arg3582Ser) c.900G>T (p.Arg300Ser) c.2102G>T c.134G>T c.1843G>T c.4237G>T (n.4237G>T) c.10620G>T (p.Arg3540Ser) n.4549G>T c.10749G>T (p.Arg3583Ser) | |
2 | g.73572624G>A | CA347285239 | ALMS1 | c.10366G>A (p.Asp3456Asn) c.3452G>A c.7647G>A c.4813G>A (p.Asp1605Asn) c.7692G>A c.10747G>A (p.Asp3583Asn) c.901G>A (p.Asp301Asn) c.2103G>A c.135G>A c.1844G>A c.4238G>A (n.4238G>A) c.10621G>A (p.Asp3541Asn) n.4550G>A c.10750G>A (p.Asp3584Asn) | |
2 | g.73572624G>C | CA347285242 | ALMS1 | c.10366G>C (p.Asp3456His) c.3452G>C c.7647G>C c.4813G>C (p.Asp1605His) c.7692G>C c.10747G>C (p.Asp3583His) c.901G>C (p.Asp301His) c.2103G>C c.135G>C c.1844G>C c.4238G>C (n.4238G>C) c.10621G>C (p.Asp3541His) n.4550G>C c.10750G>C (p.Asp3584His) | |
2 | g.73572624G>T | CA347285244 | ALMS1 | c.10366G>T (p.Asp3456Tyr) c.3452G>T c.7647G>T c.4813G>T (p.Asp1605Tyr) c.7692G>T c.10747G>T (p.Asp3583Tyr) c.901G>T (p.Asp301Tyr) c.2103G>T c.135G>T c.1844G>T c.4238G>T (n.4238G>T) c.10621G>T (p.Asp3541Tyr) n.4550G>T c.10750G>T (p.Asp3584Tyr) | |
2 | g.73572625A>C | CA347285248 | ALMS1 | c.10367A>C (p.Asp3456Ala) c.3453A>C c.7648A>C c.4814A>C (p.Asp1605Ala) c.7693A>C c.10748A>C (p.Asp3583Ala) c.902A>C (p.Asp301Ala) c.2104A>C c.136A>C c.1845A>C c.4239A>C (n.4239A>C) c.10622A>C (p.Asp3541Ala) n.4551A>C c.10751A>C (p.Asp3584Ala) | |
2 | g.73572625A>G | CA347285250 | ALMS1 | c.10367A>G (p.Asp3456Gly) c.3453A>G c.7648A>G c.4814A>G (p.Asp1605Gly) c.7693A>G c.10748A>G (p.Asp3583Gly) c.902A>G (p.Asp301Gly) c.2104A>G c.136A>G c.1845A>G c.4239A>G (n.4239A>G) c.10622A>G (p.Asp3541Gly) n.4551A>G c.10751A>G (p.Asp3584Gly) | |
2 | g.73572625A>T | CA347285252 | ALMS1 | c.10367A>T (p.Asp3456Val) c.3453A>T c.7648A>T c.4814A>T (p.Asp1605Val) c.7693A>T c.10748A>T (p.Asp3583Val) c.902A>T (p.Asp301Val) c.2104A>T c.136A>T c.1845A>T c.4239A>T (n.4239A>T) c.10622A>T (p.Asp3541Val) n.4551A>T c.10751A>T (p.Asp3584Val) | |
2 | g.73572626T>A | CA347285256 | ALMS1 | c.10368T>A (p.Asp3456Glu) c.3454T>A c.7649T>A c.4815T>A (p.Asp1605Glu) c.7694T>A c.10749T>A (p.Asp3583Glu) c.903T>A (p.Asp301Glu) c.2105T>A c.137T>A c.1846T>A c.4240T>A (n.4240T>A) c.10623T>A (p.Asp3541Glu) n.4552T>A c.10752T>A (p.Asp3584Glu) | |
2 | g.73572626T>C | CA427024411 | ALMS1 | c.10368T>C (p.Asp3456=) c.3454T>C c.7649T>C c.4815T>C (p.Asp1605=) c.7694T>C c.10749T>C (p.Asp3583=) c.903T>C (p.Asp301=) c.2105T>C c.137T>C c.1846T>C c.4240T>C (n.4240T>C) c.10623T>C (p.Asp3541=) n.4552T>C c.10752T>C (p.Asp3584=) | |
2 | g.73572626T>G | CA347285258 | ALMS1 | c.10368T>G (p.Asp3456Glu) c.3454T>G c.7649T>G c.4815T>G (p.Asp1605Glu) c.7694T>G c.10749T>G (p.Asp3583Glu) c.903T>G (p.Asp301Glu) c.2105T>G c.137T>G c.1846T>G c.4240T>G (n.4240T>G) c.10623T>G (p.Asp3541Glu) n.4552T>G c.10752T>G (p.Asp3584Glu) | |
2 | g.73572627C>A | CA347285263 | ALMS1 | c.10369C>A (p.Gln3457Lys) c.3455C>A c.7650C>A c.4816C>A (p.Gln1606Lys) c.7695C>A c.10750C>A (p.Gln3584Lys) c.904C>A (p.Gln302Lys) c.2106C>A c.138C>A c.1847C>A c.4241C>A (n.4241C>A) c.10624C>A (p.Gln3542Lys) n.4553C>A c.10753C>A (p.Gln3585Lys) | |
2 | g.73572627C= | CA1261021430 | ALMS1 | c.10369C= (p.Gln3457=) c.3455C= c.7650C= c.4816C= (p.Gln1606=) c.7695C= c.10750C= (p.Gln3584=) c.904C= (p.Gln302=) c.2106C= c.138C= c.1847C= c.4241C= (n.4241C=) c.10624C= (p.Gln3542=) n.4553C= c.10753C= (p.Gln3585=) | |
2 | g.73572627C>G | CA347285264 | ALMS1 | c.10369C>G (p.Gln3457Glu) c.3455C>G c.7650C>G c.4816C>G (p.Gln1606Glu) c.7695C>G c.10750C>G (p.Gln3584Glu) c.904C>G (p.Gln302Glu) c.2106C>G c.138C>G c.1847C>G c.4241C>G (n.4241C>G) c.10624C>G (p.Gln3542Glu) n.4553C>G c.10753C>G (p.Gln3585Glu) | ClinVar gnomAD v4 |
2 | g.73572627C>T | CA1715052 | ALMS1 | c.10369C>T (p.Gln3457Ter) c.3455C>T c.7650C>T c.4816C>T (p.Gln1606Ter) c.7695C>T c.10750C>T (p.Gln3584Ter) c.904C>T (p.Gln302Ter) c.2106C>T c.138C>T c.1847C>T c.4241C>T (n.4241C>T) c.10624C>T (p.Gln3542Ter) n.4553C>T c.10753C>T (p.Gln3585Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572628A= | CA1261021437 | ALMS1 | c.10370A= (p.Gln3457=) c.3456A= c.7651A= c.4817A= (p.Gln1606=) c.7696A= c.10751A= (p.Gln3584=) c.905A= (p.Gln302=) c.2107A= c.139A= c.1848A= c.4242A= (n.4242A=) c.10625A= (p.Gln3542=) n.4554A= c.10754A= (p.Gln3585=) | |
2 | g.73572628A>C | CA347285271 | ALMS1 | c.10370A>C (p.Gln3457Pro) c.3456A>C c.7651A>C c.4817A>C (p.Gln1606Pro) c.7696A>C c.10751A>C (p.Gln3584Pro) c.905A>C (p.Gln302Pro) c.2107A>C c.139A>C c.1848A>C c.4242A>C (n.4242A>C) c.10625A>C (p.Gln3542Pro) n.4554A>C c.10754A>C (p.Gln3585Pro) | |
2 | g.73572628A>G | CA347285269 | ALMS1 | c.10370A>G (p.Gln3457Arg) c.3456A>G c.7651A>G c.4817A>G (p.Gln1606Arg) c.7696A>G c.10751A>G (p.Gln3584Arg) c.905A>G (p.Gln302Arg) c.2107A>G c.139A>G c.1848A>G c.4242A>G (n.4242A>G) c.10625A>G (p.Gln3542Arg) n.4554A>G c.10754A>G (p.Gln3585Arg) | |
2 | g.73572628A>T | CA1715053 | ALMS1 | c.10370A>T (p.Gln3457Leu) c.3456A>T c.7651A>T c.4817A>T (p.Gln1606Leu) c.7696A>T c.10751A>T (p.Gln3584Leu) c.905A>T (p.Gln302Leu) c.2107A>T c.139A>T c.1848A>T c.4242A>T (n.4242A>T) c.10625A>T (p.Gln3542Leu) n.4554A>T c.10754A>T (p.Gln3585Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572630_73572632del | CA2577005218 | ALMS1 | c.10372_10374del (p.Lys3458del) c.3458_3460del c.7653_7655del c.4819_4821del (p.Lys1607del) c.7698_7700del c.10753_10755del (p.Lys3585del) c.907_909del (p.Lys303del) c.2109_2111del c.141_143del c.1850_1852del c.4244_4246del (n.4244_4246del) c.10627_10629del (p.Lys3543del) n.4556_4558del c.10756_10758del (p.Lys3586del) | ClinVar gnomAD v4 |
2 | g.73572629G>A | CA427024420 | ALMS1 | c.10371G>A (p.Gln3457=) c.3457G>A c.7652G>A c.4818G>A (p.Gln1606=) c.7697G>A c.10752G>A (p.Gln3584=) c.906G>A (p.Gln302=) c.2108G>A c.140G>A c.1849G>A c.4243G>A (n.4243G>A) c.10626G>A (p.Gln3542=) n.4555G>A c.10755G>A (p.Gln3585=) | |
2 | g.73572629G>C | CA347285276 | ALMS1 | c.10371G>C (p.Gln3457His) c.3457G>C c.7652G>C c.4818G>C (p.Gln1606His) c.7697G>C c.10752G>C (p.Gln3584His) c.906G>C (p.Gln302His) c.2108G>C c.140G>C c.1849G>C c.4243G>C (n.4243G>C) c.10626G>C (p.Gln3542His) n.4555G>C c.10755G>C (p.Gln3585His) | |
2 | g.73572629G>T | CA347285277 | ALMS1 | c.10371G>T (p.Gln3457His) c.3457G>T c.7652G>T c.4818G>T (p.Gln1606His) c.7697G>T c.10752G>T (p.Gln3584His) c.906G>T (p.Gln302His) c.2108G>T c.140G>T c.1849G>T c.4243G>T (n.4243G>T) c.10626G>T (p.Gln3542His) n.4555G>T c.10755G>T (p.Gln3585His) | |
2 | g.73572630A>C | CA347285279 | ALMS1 | c.10372A>C (p.Lys3458Gln) c.3458A>C c.7653A>C c.4819A>C (p.Lys1607Gln) c.7698A>C c.10753A>C (p.Lys3585Gln) c.907A>C (p.Lys303Gln) c.2109A>C c.141A>C c.1850A>C c.4244A>C (n.4244A>C) c.10627A>C (p.Lys3543Gln) n.4556A>C c.10756A>C (p.Lys3586Gln) | |
2 | g.73572630A>G | CA347285280 | ALMS1 | c.10372A>G (p.Lys3458Glu) c.3458A>G c.7653A>G c.4819A>G (p.Lys1607Glu) c.7698A>G c.10753A>G (p.Lys3585Glu) c.907A>G (p.Lys303Glu) c.2109A>G c.141A>G c.1850A>G c.4244A>G (n.4244A>G) c.10627A>G (p.Lys3543Glu) n.4556A>G c.10756A>G (p.Lys3586Glu) | |
2 | g.73572630A>T | CA347285283 | ALMS1 | c.10372A>T (p.Lys3458Ter) c.3458A>T c.7653A>T c.4819A>T (p.Lys1607Ter) c.7698A>T c.10753A>T (p.Lys3585Ter) c.907A>T (p.Lys303Ter) c.2109A>T c.141A>T c.1850A>T c.4244A>T (n.4244A>T) c.10627A>T (p.Lys3543Ter) n.4556A>T c.10756A>T (p.Lys3586Ter) | |
2 | g.73572631dup | CA2586964947 | ALMS1 | c.10373dup (p.Val3459GlyfsTer15) c.3459dup c.7654dup c.4820dup (p.Val1608GlyfsTer15) c.7699dup c.10754dup (p.Val3586GlyfsTer15) c.908dup (p.Val304GlyfsTer15) c.2110dup c.142dup c.1851dup c.4245dup (n.4245dup) c.10628dup (p.Val3544GlyfsTer15) n.4557dup c.10757dup (p.Val3587GlyfsTer15) | |
2 | g.73572631A= | CA1261021446 | ALMS1 | c.10373A= (p.Lys3458=) c.3459A= c.7654A= c.4820A= (p.Lys1607=) c.7699A= c.10754A= (p.Lys3585=) c.908A= (p.Lys303=) c.2110A= c.142A= c.1851A= c.4245A= (n.4245A=) c.10628A= (p.Lys3543=) n.4557A= c.10757A= (p.Lys3586=) | |
2 | g.73572631A>C | CA347285286 | ALMS1 | c.10373A>C (p.Lys3458Thr) c.3459A>C c.7654A>C c.4820A>C (p.Lys1607Thr) c.7699A>C c.10754A>C (p.Lys3585Thr) c.908A>C (p.Lys303Thr) c.2110A>C c.142A>C c.1851A>C c.4245A>C (n.4245A>C) c.10628A>C (p.Lys3543Thr) n.4557A>C c.10757A>C (p.Lys3586Thr) | |
2 | g.73572631A>G | CA1715054 | ALMS1 | c.10373A>G (p.Lys3458Arg) c.3459A>G c.7654A>G c.4820A>G (p.Lys1607Arg) c.7699A>G c.10754A>G (p.Lys3585Arg) c.908A>G (p.Lys303Arg) c.2110A>G c.142A>G c.1851A>G c.4245A>G (n.4245A>G) c.10628A>G (p.Lys3543Arg) n.4557A>G c.10757A>G (p.Lys3586Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572631A>T | CA347285291 | ALMS1 | c.10373A>T (p.Lys3458Met) c.3459A>T c.7654A>T c.4820A>T (p.Lys1607Met) c.7699A>T c.10754A>T (p.Lys3585Met) c.908A>T (p.Lys303Met) c.2110A>T c.142A>T c.1851A>T c.4245A>T (n.4245A>T) c.10628A>T (p.Lys3543Met) n.4557A>T c.10757A>T (p.Lys3586Met) | |
2 | g.73572632G>A | CA427024423 | ALMS1 | c.10374G>A (p.Lys3458=) c.3460G>A c.7655G>A c.4821G>A (p.Lys1607=) c.7700G>A c.10755G>A (p.Lys3585=) c.909G>A (p.Lys303=) c.2111G>A c.143G>A c.1852G>A c.4246G>A (n.4246G>A) c.10629G>A (p.Lys3543=) n.4558G>A c.10758G>A (p.Lys3586=) | |
2 | g.73572632G>C | CA347285294 | ALMS1 | c.10374G>C (p.Lys3458Asn) c.3460G>C c.7655G>C c.4821G>C (p.Lys1607Asn) c.7700G>C c.10755G>C (p.Lys3585Asn) c.909G>C (p.Lys303Asn) c.2111G>C c.143G>C c.1852G>C c.4246G>C (n.4246G>C) c.10629G>C (p.Lys3543Asn) n.4558G>C c.10758G>C (p.Lys3586Asn) | |
2 | g.73572632G>T | CA347285296 | ALMS1 | c.10374G>T (p.Lys3458Asn) c.3460G>T c.7655G>T c.4821G>T (p.Lys1607Asn) c.7700G>T c.10755G>T (p.Lys3585Asn) c.909G>T (p.Lys303Asn) c.2111G>T c.143G>T c.1852G>T c.4246G>T (n.4246G>T) c.10629G>T (p.Lys3543Asn) n.4558G>T c.10758G>T (p.Lys3586Asn) | |
2 | g.73572633G>A | CA347285299 | ALMS1 | c.10375G>A (p.Val3459Ile) c.3461G>A c.7656G>A c.4822G>A (p.Val1608Ile) c.7701G>A c.10756G>A (p.Val3586Ile) c.910G>A (p.Val304Ile) c.2112G>A c.144G>A c.1853G>A c.4247G>A (n.4247G>A) c.10630G>A (p.Val3544Ile) n.4559G>A c.10759G>A (p.Val3587Ile) | |
2 | g.73572633G>C | CA347285301 | ALMS1 | c.10375G>C (p.Val3459Leu) c.3461G>C c.7656G>C c.4822G>C (p.Val1608Leu) c.7701G>C c.10756G>C (p.Val3586Leu) c.910G>C (p.Val304Leu) c.2112G>C c.144G>C c.1853G>C c.4247G>C (n.4247G>C) c.10630G>C (p.Val3544Leu) n.4559G>C c.10759G>C (p.Val3587Leu) | |
2 | g.73572633G>T | CA347285304 | ALMS1 | c.10375G>T (p.Val3459Phe) c.3461G>T c.7656G>T c.4822G>T (p.Val1608Phe) c.7701G>T c.10756G>T (p.Val3586Phe) c.910G>T (p.Val304Phe) c.2112G>T c.144G>T c.1853G>T c.4247G>T (n.4247G>T) c.10630G>T (p.Val3544Phe) n.4559G>T c.10759G>T (p.Val3587Phe) | gnomAD v4 |
2 | g.73572634T>A | CA347285310 | ALMS1 | c.10376T>A (p.Val3459Asp) c.3462T>A c.7657T>A c.4823T>A (p.Val1608Asp) c.7702T>A c.10757T>A (p.Val3586Asp) c.911T>A (p.Val304Asp) c.2113T>A c.145T>A c.1854T>A c.4248T>A (n.4248T>A) c.10631T>A (p.Val3544Asp) n.4560T>A c.10760T>A (p.Val3587Asp) | |
2 | g.73572634T>C | CA347285308 | ALMS1 | c.10376T>C (p.Val3459Ala) c.3462T>C c.7657T>C c.4823T>C (p.Val1608Ala) c.7702T>C c.10757T>C (p.Val3586Ala) c.911T>C (p.Val304Ala) c.2113T>C c.145T>C c.1854T>C c.4248T>C (n.4248T>C) c.10631T>C (p.Val3544Ala) n.4560T>C c.10760T>C (p.Val3587Ala) | |
2 | g.73572634T>G | CA347285306 | ALMS1 | c.10376T>G (p.Val3459Gly) c.3462T>G c.7657T>G c.4823T>G (p.Val1608Gly) c.7702T>G c.10757T>G (p.Val3586Gly) c.911T>G (p.Val304Gly) c.2113T>G c.145T>G c.1854T>G c.4248T>G (n.4248T>G) c.10631T>G (p.Val3544Gly) n.4560T>G c.10760T>G (p.Val3587Gly) | |
2 | g.73572635C>A | CA427024435 | ALMS1 | c.10377C>A (p.Val3459=) c.3463C>A c.7658C>A c.4824C>A (p.Val1608=) c.7703C>A c.10758C>A (p.Val3586=) c.912C>A (p.Val304=) c.2114C>A c.146C>A c.1855C>A c.4249C>A (n.4249C>A) c.10632C>A (p.Val3544=) n.4561C>A c.10761C>A (p.Val3587=) | |
2 | g.73572635C>G | CA427024436 | ALMS1 | c.10377C>G (p.Val3459=) c.3463C>G c.7658C>G c.4824C>G (p.Val1608=) c.7703C>G c.10758C>G (p.Val3586=) c.912C>G (p.Val304=) c.2114C>G c.146C>G c.1855C>G c.4249C>G (n.4249C>G) c.10632C>G (p.Val3544=) n.4561C>G c.10761C>G (p.Val3587=) | |
2 | g.73572635C>T | CA427024437 | ALMS1 | c.10377C>T (p.Val3459=) c.3463C>T c.7658C>T c.4824C>T (p.Val1608=) c.7703C>T c.10758C>T (p.Val3586=) c.912C>T (p.Val304=) c.2114C>T c.146C>T c.1855C>T c.4249C>T (n.4249C>T) c.10632C>T (p.Val3544=) n.4561C>T c.10761C>T (p.Val3587=) | |
2 | g.73572636A>C | CA347285313 | ALMS1 | c.10378A>C (p.Thr3460Pro) c.3464A>C c.7659A>C c.4825A>C (p.Thr1609Pro) c.7704A>C c.10759A>C (p.Thr3587Pro) c.913A>C (p.Thr305Pro) c.2115A>C c.147A>C c.1856A>C c.4250A>C (n.4250A>C) c.10633A>C (p.Thr3545Pro) n.4562A>C c.10762A>C (p.Thr3588Pro) | |
2 | g.73572636A>G | CA347285316 | ALMS1 | c.10378A>G (p.Thr3460Ala) c.3464A>G c.7659A>G c.4825A>G (p.Thr1609Ala) c.7704A>G c.10759A>G (p.Thr3587Ala) c.913A>G (p.Thr305Ala) c.2115A>G c.147A>G c.1856A>G c.4250A>G (n.4250A>G) c.10633A>G (p.Thr3545Ala) n.4562A>G c.10762A>G (p.Thr3588Ala) | ClinVar gnomAD v4 |
2 | g.73572636A>T | CA347285318 | ALMS1 | c.10378A>T (p.Thr3460Ser) c.3464A>T c.7659A>T c.4825A>T (p.Thr1609Ser) c.7704A>T c.10759A>T (p.Thr3587Ser) c.913A>T (p.Thr305Ser) c.2115A>T c.147A>T c.1856A>T c.4250A>T (n.4250A>T) c.10633A>T (p.Thr3545Ser) n.4562A>T c.10762A>T (p.Thr3588Ser) | |
2 | g.73572637C>A | CA347285321 | ALMS1 | c.10379C>A (p.Thr3460Asn) c.3465C>A c.7660C>A c.4826C>A (p.Thr1609Asn) c.7705C>A c.10760C>A (p.Thr3587Asn) c.914C>A (p.Thr305Asn) c.2116C>A c.148C>A c.1857C>A c.4251C>A (n.4251C>A) c.10634C>A (p.Thr3545Asn) n.4563C>A c.10763C>A (p.Thr3588Asn) | gnomAD v4 |
2 | g.73572637C>G | CA347285323 | ALMS1 | c.10379C>G (p.Thr3460Ser) c.3465C>G c.7660C>G c.4826C>G (p.Thr1609Ser) c.7705C>G c.10760C>G (p.Thr3587Ser) c.914C>G (p.Thr305Ser) c.2116C>G c.148C>G c.1857C>G c.4251C>G (n.4251C>G) c.10634C>G (p.Thr3545Ser) n.4563C>G c.10763C>G (p.Thr3588Ser) | |
2 | g.73572637C>T | CA347285324 | ALMS1 | c.10379C>T (p.Thr3460Ile) c.3465C>T c.7660C>T c.4826C>T (p.Thr1609Ile) c.7705C>T c.10760C>T (p.Thr3587Ile) c.914C>T (p.Thr305Ile) c.2116C>T c.148C>T c.1857C>T c.4251C>T (n.4251C>T) c.10634C>T (p.Thr3545Ile) n.4563C>T c.10763C>T (p.Thr3588Ile) | |
2 | g.73572638C>A | CA427024442 | ALMS1 | c.10380C>A (p.Thr3460=) c.3466C>A c.7661C>A c.4827C>A (p.Thr1609=) c.7706C>A c.10761C>A (p.Thr3587=) c.915C>A (p.Thr305=) c.2117C>A c.149C>A c.1858C>A c.4252C>A (n.4252C>A) c.10635C>A (p.Thr3545=) n.4564C>A c.10764C>A (p.Thr3588=) | |
2 | g.73572638C>G | CA427024443 | ALMS1 | c.10380C>G (p.Thr3460=) c.3466C>G c.7661C>G c.4827C>G (p.Thr1609=) c.7706C>G c.10761C>G (p.Thr3587=) c.915C>G (p.Thr305=) c.2117C>G c.149C>G c.1858C>G c.4252C>G (n.4252C>G) c.10635C>G (p.Thr3545=) n.4564C>G c.10764C>G (p.Thr3588=) | |
2 | g.73572638C>T | CA427024444 | ALMS1 | c.10380C>T (p.Thr3460=) c.3466C>T c.7661C>T c.4827C>T (p.Thr1609=) c.7706C>T c.10761C>T (p.Thr3587=) c.915C>T (p.Thr305=) c.2117C>T c.149C>T c.1858C>T c.4252C>T (n.4252C>T) c.10635C>T (p.Thr3545=) n.4564C>T c.10764C>T (p.Thr3588=) | |
2 | g.73572639C>A | CA347285327 | ALMS1 | c.10381C>A (p.Pro3461Thr) c.3467C>A c.7662C>A c.4828C>A (p.Pro1610Thr) c.7707C>A c.10762C>A (p.Pro3588Thr) c.916C>A (p.Pro306Thr) c.2118C>A c.150C>A c.1859C>A c.4253C>A (n.4253C>A) c.10636C>A (p.Pro3546Thr) n.4565C>A c.10765C>A (p.Pro3589Thr) | |
2 | g.73572639C>G | CA347285330 | ALMS1 | c.10381C>G (p.Pro3461Ala) c.3467C>G c.7662C>G c.4828C>G (p.Pro1610Ala) c.7707C>G c.10762C>G (p.Pro3588Ala) c.916C>G (p.Pro306Ala) c.2118C>G c.150C>G c.1859C>G c.4253C>G (n.4253C>G) c.10636C>G (p.Pro3546Ala) n.4565C>G c.10765C>G (p.Pro3589Ala) | |
2 | g.73572639C>T | CA347285332 | ALMS1 | c.10381C>T (p.Pro3461Ser) c.3467C>T c.7662C>T c.4828C>T (p.Pro1610Ser) c.7707C>T c.10762C>T (p.Pro3588Ser) c.916C>T (p.Pro306Ser) c.2118C>T c.150C>T c.1859C>T c.4253C>T (n.4253C>T) c.10636C>T (p.Pro3546Ser) n.4565C>T c.10765C>T (p.Pro3589Ser) | |
2 | g.73572640C>A | CA347285334 | ALMS1 | c.10382C>A (p.Pro3461Gln) c.3468C>A c.7663C>A c.4829C>A (p.Pro1610Gln) c.7708C>A c.10763C>A (p.Pro3588Gln) c.917C>A (p.Pro306Gln) c.2119C>A c.151C>A c.1860C>A c.4254C>A (n.4254C>A) c.10637C>A (p.Pro3546Gln) n.4566C>A c.10766C>A (p.Pro3589Gln) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572640C= | CA1261021455 | ALMS1 | c.10382C= (p.Pro3461=) c.3468C= c.7663C= c.4829C= (p.Pro1610=) c.7708C= c.10763C= (p.Pro3588=) c.917C= (p.Pro306=) c.2119C= c.151C= c.1860C= c.4254C= (n.4254C=) c.10637C= (p.Pro3546=) n.4566C= c.10766C= (p.Pro3589=) | |
2 | g.73572640C>G | CA347285337 | ALMS1 | c.10382C>G (p.Pro3461Arg) c.3468C>G c.7663C>G c.4829C>G (p.Pro1610Arg) c.7708C>G c.10763C>G (p.Pro3588Arg) c.917C>G (p.Pro306Arg) c.2119C>G c.151C>G c.1860C>G c.4254C>G (n.4254C>G) c.10637C>G (p.Pro3546Arg) n.4566C>G c.10766C>G (p.Pro3589Arg) | gnomAD v4 |
2 | g.73572640C>T | CA347285339 | ALMS1 | c.10382C>T (p.Pro3461Leu) c.3468C>T c.7663C>T c.4829C>T (p.Pro1610Leu) c.7708C>T c.10763C>T (p.Pro3588Leu) c.917C>T (p.Pro306Leu) c.2119C>T c.151C>T c.1860C>T c.4254C>T (n.4254C>T) c.10637C>T (p.Pro3546Leu) n.4566C>T c.10766C>T (p.Pro3589Leu) | |
2 | g.73572641A= | CA1261021462 | ALMS1 | c.10383A= (p.Pro3461=) c.3469A= c.7664A= c.4830A= (p.Pro1610=) c.7709A= c.10764A= (p.Pro3588=) c.918A= (p.Pro306=) c.2120A= c.152A= c.1861A= c.4255A= (n.4255A=) c.10638A= (p.Pro3546=) n.4567A= c.10767A= (p.Pro3589=) | |
2 | g.73572641A>C | CA427024451 | ALMS1 | c.10383A>C (p.Pro3461=) c.3469A>C c.7664A>C c.4830A>C (p.Pro1610=) c.7709A>C c.10764A>C (p.Pro3588=) c.918A>C (p.Pro306=) c.2120A>C c.152A>C c.1861A>C c.4255A>C (n.4255A>C) c.10638A>C (p.Pro3546=) n.4567A>C c.10767A>C (p.Pro3589=) | |
2 | g.73572641A>G | CA427024448 | ALMS1 | c.10383A>G (p.Pro3461=) c.3469A>G c.7664A>G c.4830A>G (p.Pro1610=) c.7709A>G c.10764A>G (p.Pro3588=) c.918A>G (p.Pro306=) c.2120A>G c.152A>G c.1861A>G c.4255A>G (n.4255A>G) c.10638A>G (p.Pro3546=) n.4567A>G c.10767A>G (p.Pro3589=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572641A>T | CA427024450 | ALMS1 | c.10383A>T (p.Pro3461=) c.3469A>T c.7664A>T c.4830A>T (p.Pro1610=) c.7709A>T c.10764A>T (p.Pro3588=) c.918A>T (p.Pro306=) c.2120A>T c.152A>T c.1861A>T c.4255A>T (n.4255A>T) c.10638A>T (p.Pro3546=) n.4567A>T c.10767A>T (p.Pro3589=) | |
2 | g.73572642G>A | CA347285348 | ALMS1 | c.10384G>A (p.Glu3462Lys) c.3470G>A c.7665G>A c.4831G>A (p.Glu1611Lys) c.7710G>A c.10765G>A (p.Glu3589Lys) c.919G>A (p.Glu307Lys) c.2121G>A c.153G>A c.1862G>A c.4256G>A (n.4256G>A) c.10639G>A (p.Glu3547Lys) n.4568G>A c.10768G>A (p.Glu3590Lys) | |
2 | g.73572642G>C | CA347285345 | ALMS1 | c.10384G>C (p.Glu3462Gln) c.3470G>C c.7665G>C c.4831G>C (p.Glu1611Gln) c.7710G>C c.10765G>C (p.Glu3589Gln) c.919G>C (p.Glu307Gln) c.2121G>C c.153G>C c.1862G>C c.4256G>C (n.4256G>C) c.10639G>C (p.Glu3547Gln) n.4568G>C c.10768G>C (p.Glu3590Gln) | |
2 | g.73572642G>T | CA347285343 | ALMS1 | c.10384G>T (p.Glu3462Ter) c.3470G>T c.7665G>T c.4831G>T (p.Glu1611Ter) c.7710G>T c.10765G>T (p.Glu3589Ter) c.919G>T (p.Glu307Ter) c.2121G>T c.153G>T c.1862G>T c.4256G>T (n.4256G>T) c.10639G>T (p.Glu3547Ter) n.4568G>T c.10768G>T (p.Glu3590Ter) | |
2 | g.73572643del | CA2573052023 | ALMS1 | c.10385del (p.Glu3462GlyfsTer8) c.3471del c.7666del c.4832del (p.Glu1611GlyfsTer8) c.7711del c.10766del (p.Glu3589GlyfsTer8) c.920del (p.Glu307GlyfsTer8) c.2122del c.154del c.1863del c.4257del (n.4257del) c.10640del (p.Glu3547GlyfsTer8) n.4569del c.10769del (p.Glu3590GlyfsTer8) | ClinVar dbSNP |
2 | g.73572643A= | CA1261021467 | ALMS1 | c.10385A= (p.Glu3462=) c.3471A= c.7666A= c.4832A= (p.Glu1611=) c.7711A= c.10766A= (p.Glu3589=) c.920A= (p.Glu307=) c.2122A= c.154A= c.1863A= c.4257A= (n.4257A=) c.10640A= (p.Glu3547=) n.4569A= c.10769A= (p.Glu3590=) | |
2 | g.73572643A>C | CA347285350 | ALMS1 | c.10385A>C (p.Glu3462Ala) c.3471A>C c.7666A>C c.4832A>C (p.Glu1611Ala) c.7711A>C c.10766A>C (p.Glu3589Ala) c.920A>C (p.Glu307Ala) c.2122A>C c.154A>C c.1863A>C c.4257A>C (n.4257A>C) c.10640A>C (p.Glu3547Ala) n.4569A>C c.10769A>C (p.Glu3590Ala) | |
2 | g.73572643A>G | CA347285353 | ALMS1 | c.10385A>G (p.Glu3462Gly) c.3471A>G c.7666A>G c.4832A>G (p.Glu1611Gly) c.7711A>G c.10766A>G (p.Glu3589Gly) c.920A>G (p.Glu307Gly) c.2122A>G c.154A>G c.1863A>G c.4257A>G (n.4257A>G) c.10640A>G (p.Glu3547Gly) n.4569A>G c.10769A>G (p.Glu3590Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572643A>T | CA347285354 | ALMS1 | c.10385A>T (p.Glu3462Val) c.3471A>T c.7666A>T c.4832A>T (p.Glu1611Val) c.7711A>T c.10766A>T (p.Glu3589Val) c.920A>T (p.Glu307Val) c.2122A>T c.154A>T c.1863A>T c.4257A>T (n.4257A>T) c.10640A>T (p.Glu3547Val) n.4569A>T c.10769A>T (p.Glu3590Val) | |
2 | g.73572644G>A | CA427024458 | ALMS1 | c.10386G>A (p.Glu3462=) c.3472G>A c.7667G>A c.4833G>A (p.Glu1611=) c.7712G>A c.10767G>A (p.Glu3589=) c.921G>A (p.Glu307=) c.2123G>A c.155G>A c.1864G>A c.4258G>A (n.4258G>A) c.10641G>A (p.Glu3547=) n.4570G>A c.10770G>A (p.Glu3590=) | |
2 | g.73572644G>C | CA347285359 | ALMS1 | c.10386G>C (p.Glu3462Asp) c.3472G>C c.7667G>C c.4833G>C (p.Glu1611Asp) c.7712G>C c.10767G>C (p.Glu3589Asp) c.921G>C (p.Glu307Asp) c.2123G>C c.155G>C c.1864G>C c.4258G>C (n.4258G>C) c.10641G>C (p.Glu3547Asp) n.4570G>C c.10770G>C (p.Glu3590Asp) | |
2 | g.73572644G>T | CA347285360 | ALMS1 | c.10386G>T (p.Glu3462Asp) c.3472G>T c.7667G>T c.4833G>T (p.Glu1611Asp) c.7712G>T c.10767G>T (p.Glu3589Asp) c.921G>T (p.Glu307Asp) c.2123G>T c.155G>T c.1864G>T c.4258G>T (n.4258G>T) c.10641G>T (p.Glu3547Asp) n.4570G>T c.10770G>T (p.Glu3590Asp) | |
2 | g.73572645C>A | CA347285365 | ALMS1 | c.10387C>A (p.Gln3463Lys) c.3473C>A c.7668C>A c.4834C>A (p.Gln1612Lys) c.7713C>A c.10768C>A (p.Gln3590Lys) c.922C>A (p.Gln308Lys) c.2124C>A c.156C>A c.1865C>A c.4259C>A (n.4259C>A) c.10642C>A (p.Gln3548Lys) n.4571C>A c.10771C>A (p.Gln3591Lys) | gnomAD v4 |
2 | g.73572645C= | CA1261021471 | ALMS1 | c.10387C= (p.Gln3463=) c.3473C= c.7668C= c.4834C= (p.Gln1612=) c.7713C= c.10768C= (p.Gln3590=) c.922C= (p.Gln308=) c.2124C= c.156C= c.1865C= c.4259C= (n.4259C=) c.10642C= (p.Gln3548=) n.4571C= c.10771C= (p.Gln3591=) | |
2 | g.73572645C>G | CA347285367 | ALMS1 | c.10387C>G (p.Gln3463Glu) c.3473C>G c.7668C>G c.4834C>G (p.Gln1612Glu) c.7713C>G c.10768C>G (p.Gln3590Glu) c.922C>G (p.Gln308Glu) c.2124C>G c.156C>G c.1865C>G c.4259C>G (n.4259C>G) c.10642C>G (p.Gln3548Glu) n.4571C>G c.10771C>G (p.Gln3591Glu) | ClinVar dbSNP |
2 | g.73572645C>T | CA347285368 | ALMS1 | c.10387C>T (p.Gln3463Ter) c.3473C>T c.7668C>T c.4834C>T (p.Gln1612Ter) c.7713C>T c.10768C>T (p.Gln3590Ter) c.922C>T (p.Gln308Ter) c.2124C>T c.156C>T c.1865C>T c.4259C>T (n.4259C>T) c.10642C>T (p.Gln3548Ter) n.4571C>T c.10771C>T (p.Gln3591Ter) | |
2 | g.73572646A>C | CA347285370 | ALMS1 | c.10388A>C (p.Gln3463Pro) c.3474A>C c.7669A>C c.4835A>C (p.Gln1612Pro) c.7714A>C c.10769A>C (p.Gln3590Pro) c.923A>C (p.Gln308Pro) c.2125A>C c.157A>C c.1866A>C c.4260A>C (n.4260A>C) c.10643A>C (p.Gln3548Pro) n.4572A>C c.10772A>C (p.Gln3591Pro) | |
2 | g.73572646A>G | CA347285372 | ALMS1 | c.10388A>G (p.Gln3463Arg) c.3474A>G c.7669A>G c.4835A>G (p.Gln1612Arg) c.7714A>G c.10769A>G (p.Gln3590Arg) c.923A>G (p.Gln308Arg) c.2125A>G c.157A>G c.1866A>G c.4260A>G (n.4260A>G) c.10643A>G (p.Gln3548Arg) n.4572A>G c.10772A>G (p.Gln3591Arg) | |
2 | g.73572646A>T | CA347285375 | ALMS1 | c.10388A>T (p.Gln3463Leu) c.3474A>T c.7669A>T c.4835A>T (p.Gln1612Leu) c.7714A>T c.10769A>T (p.Gln3590Leu) c.923A>T (p.Gln308Leu) c.2125A>T c.157A>T c.1866A>T c.4260A>T (n.4260A>T) c.10643A>T (p.Gln3548Leu) n.4572A>T c.10772A>T (p.Gln3591Leu) | |
2 | g.73572648del | CA2499216272 | ALMS1 | c.10390del (p.Thr3464GlnfsTer6) c.3476del c.7671del c.4837del (p.Thr1613GlnfsTer6) c.7716del c.10771del (p.Thr3591GlnfsTer6) c.925del (p.Thr309GlnfsTer6) c.2127del c.159del c.1868del c.4262del (n.4262del) c.10645del (p.Thr3549GlnfsTer6) n.4574del c.10774del (p.Thr3592GlnfsTer6) | ClinVar dbSNP |
2 | g.73572647A>C | CA347285377 | ALMS1 | c.10389A>C (p.Gln3463His) c.3475A>C c.7670A>C c.4836A>C (p.Gln1612His) c.7715A>C c.10770A>C (p.Gln3590His) c.924A>C (p.Gln308His) c.2126A>C c.158A>C c.1867A>C c.4261A>C (n.4261A>C) c.10644A>C (p.Gln3548His) n.4573A>C c.10773A>C (p.Gln3591His) | |
2 | g.73572647A>G | CA427024461 | ALMS1 | c.10389A>G (p.Gln3463=) c.3475A>G c.7670A>G c.4836A>G (p.Gln1612=) c.7715A>G c.10770A>G (p.Gln3590=) c.924A>G (p.Gln308=) c.2126A>G c.158A>G c.1867A>G c.4261A>G (n.4261A>G) c.10644A>G (p.Gln3548=) n.4573A>G c.10773A>G (p.Gln3591=) | |
2 | g.73572647A>T | CA347285379 | ALMS1 | c.10389A>T (p.Gln3463His) c.3475A>T c.7670A>T c.4836A>T (p.Gln1612His) c.7715A>T c.10770A>T (p.Gln3590His) c.924A>T (p.Gln308His) c.2126A>T c.158A>T c.1867A>T c.4261A>T (n.4261A>T) c.10644A>T (p.Gln3548His) n.4573A>T c.10773A>T (p.Gln3591His) | |
2 | g.73572648A>C | CA347285384 | ALMS1 | c.10390A>C (p.Thr3464Pro) c.3476A>C c.7671A>C c.4837A>C (p.Thr1613Pro) c.7716A>C c.10771A>C (p.Thr3591Pro) c.925A>C (p.Thr309Pro) c.2127A>C c.159A>C c.1868A>C c.4262A>C (n.4262A>C) c.10645A>C (p.Thr3549Pro) n.4574A>C c.10774A>C (p.Thr3592Pro) | |
2 | g.73572648A>G | CA347285388 | ALMS1 | c.10390A>G (p.Thr3464Ala) c.3476A>G c.7671A>G c.4837A>G (p.Thr1613Ala) c.7716A>G c.10771A>G (p.Thr3591Ala) c.925A>G (p.Thr309Ala) c.2127A>G c.159A>G c.1868A>G c.4262A>G (n.4262A>G) c.10645A>G (p.Thr3549Ala) n.4574A>G c.10774A>G (p.Thr3592Ala) | ClinVar |
2 | g.73572648A>T | CA347285386 | ALMS1 | c.10390A>T (p.Thr3464Ser) c.3476A>T c.7671A>T c.4837A>T (p.Thr1613Ser) c.7716A>T c.10771A>T (p.Thr3591Ser) c.925A>T (p.Thr309Ser) c.2127A>T c.159A>T c.1868A>T c.4262A>T (n.4262A>T) c.10645A>T (p.Thr3549Ser) n.4574A>T c.10774A>T (p.Thr3592Ser) | |
2 | g.73572648_73572649delinsAC | CA1261021474 | ALMS1 | c.10390_10391delinsAC (p.Thr3464=) c.3476_3477delinsAC c.7671_7672delinsAC c.4837_4838delinsAC (p.Thr1613=) c.7716_7717delinsAC c.10771_10772delinsAC (p.Thr3591=) c.925_926delinsAC (p.Thr309=) c.2127_2128delinsAC c.159_160delinsAC c.1868_1869delinsAC c.4262_4263delinsAC (n.4262_4263delinsAC) c.10645_10646delinsAC (p.Thr3549=) n.4574_4575delinsAC c.10774_10775delinsAC (p.Thr3592=) | |
2 | g.73572649del | CA252953 | ALMS1 | c.10391del (p.Thr3464LysfsTer6) c.3477del c.7672del c.4838del (p.Thr1613LysfsTer6) c.7717del c.10772del (p.Thr3591LysfsTer6) c.926del (p.Thr309LysfsTer6) c.2128del c.160del c.1869del c.4263del (n.4263del) c.10646del (p.Thr3549LysfsTer6) n.4575del c.10775del (p.Thr3592LysfsTer6) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572649C>A | CA1715055 | ALMS1 | c.10391C>A (p.Thr3464Lys) c.3477C>A c.7672C>A c.4838C>A (p.Thr1613Lys) c.7717C>A c.10772C>A (p.Thr3591Lys) c.926C>A (p.Thr309Lys) c.2128C>A c.160C>A c.1869C>A c.4263C>A (n.4263C>A) c.10646C>A (p.Thr3549Lys) n.4575C>A c.10775C>A (p.Thr3592Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572649C= | CA1261021484 | ALMS1 | c.10391C= (p.Thr3464=) c.3477C= c.7672C= c.4838C= (p.Thr1613=) c.7717C= c.10772C= (p.Thr3591=) c.926C= (p.Thr309=) c.2128C= c.160C= c.1869C= c.4263C= (n.4263C=) c.10646C= (p.Thr3549=) n.4575C= c.10775C= (p.Thr3592=) | |
2 | g.73572649C>G | CA347285394 | ALMS1 | c.10391C>G (p.Thr3464Arg) c.3477C>G c.7672C>G c.4838C>G (p.Thr1613Arg) c.7717C>G c.10772C>G (p.Thr3591Arg) c.926C>G (p.Thr309Arg) c.2128C>G c.160C>G c.1869C>G c.4263C>G (n.4263C>G) c.10646C>G (p.Thr3549Arg) n.4575C>G c.10775C>G (p.Thr3592Arg) | gnomAD v4 |
2 | g.73572649C>T | CA347285395 | ALMS1 | c.10391C>T (p.Thr3464Ile) c.3477C>T c.7672C>T c.4838C>T (p.Thr1613Ile) c.7717C>T c.10772C>T (p.Thr3591Ile) c.926C>T (p.Thr309Ile) c.2128C>T c.160C>T c.1869C>T c.4263C>T (n.4263C>T) c.10646C>T (p.Thr3549Ile) n.4575C>T c.10775C>T (p.Thr3592Ile) | ClinVar dbSNP gnomAD v4 |
2 | g.73572649_73572650delinsCA | CA1261021489 | ALMS1 | c.10391_10392delinsCA (p.Thr3464=) c.3477_3478delinsCA c.7672_7673delinsCA c.4838_4839delinsCA (p.Thr1613=) c.7717_7718delinsCA c.10772_10773delinsCA (p.Thr3591=) c.926_927delinsCA (p.Thr309=) c.2128_2129delinsCA c.160_161delinsCA c.1869_1870delinsCA c.4263_4264delinsCA (n.4263_4264delinsCA) c.10646_10647delinsCA (p.Thr3549=) n.4575_4576delinsCA c.10775_10776delinsCA (p.Thr3592=) | |
2 | g.73572650A>C | CA427024473 | ALMS1 | c.10392A>C (p.Thr3464=) c.3478A>C c.7673A>C c.4839A>C (p.Thr1613=) c.7718A>C c.10773A>C (p.Thr3591=) c.927A>C (p.Thr309=) c.2129A>C c.161A>C c.1870A>C c.4264A>C (n.4264A>C) c.10647A>C (p.Thr3549=) n.4576A>C c.10776A>C (p.Thr3592=) | |
2 | g.73572650A>G | CA427024476 | ALMS1 | c.10392A>G (p.Thr3464=) c.3478A>G c.7673A>G c.4839A>G (p.Thr1613=) c.7718A>G c.10773A>G (p.Thr3591=) c.927A>G (p.Thr309=) c.2129A>G c.161A>G c.1870A>G c.4264A>G (n.4264A>G) c.10647A>G (p.Thr3549=) n.4576A>G c.10776A>G (p.Thr3592=) | |
2 | g.73572650A>T | CA427024478 | ALMS1 | c.10392A>T (p.Thr3464=) c.3478A>T c.7673A>T c.4839A>T (p.Thr1613=) c.7718A>T c.10773A>T (p.Thr3591=) c.927A>T (p.Thr309=) c.2129A>T c.161A>T c.1870A>T c.4264A>T (n.4264A>T) c.10647A>T (p.Thr3549=) n.4576A>T c.10776A>T (p.Thr3592=) | gnomAD v4 |
2 | g.73572651dup | CA2838329492 | ALMS1 | c.10393dup (p.Thr3465AsnfsTer9) c.3479dup c.7674dup c.4840dup (p.Thr1614AsnfsTer9) c.7719dup c.10774dup (p.Thr3592AsnfsTer9) c.928dup (p.Thr310AsnfsTer9) c.2130dup c.162dup c.1871dup c.4265dup (n.4265dup) c.10648dup (p.Thr3550AsnfsTer9) n.4577dup c.10777dup (p.Thr3593AsnfsTer9) | |
2 | g.73572651del | CA347285399 | ALMS1 | c.10393del (p.Thr3465LeufsTer5) c.3479del c.7674del c.4840del (p.Thr1614LeufsTer5) c.7719del c.10774del (p.Thr3592LeufsTer5) c.928del (p.Thr310LeufsTer5) c.2130del c.162del c.1871del c.4265del (n.4265del) c.10648del (p.Thr3550LeufsTer5) n.4577del c.10777del (p.Thr3593LeufsTer5) | dbSNP |
2 | g.73572651A= | CA1261021498 | ALMS1 | c.10393A= (p.Thr3465=) c.3479A= c.7674A= c.4840A= (p.Thr1614=) c.7719A= c.10774A= (p.Thr3592=) c.928A= (p.Thr310=) c.2130A= c.162A= c.1871A= c.4265A= (n.4265A=) c.10648A= (p.Thr3550=) n.4577A= c.10777A= (p.Thr3593=) | |
2 | g.73572651A>C | CA1715056 | ALMS1 | c.10393A>C (p.Thr3465Pro) c.3479A>C c.7674A>C c.4840A>C (p.Thr1614Pro) c.7719A>C c.10774A>C (p.Thr3592Pro) c.928A>C (p.Thr310Pro) c.2130A>C c.162A>C c.1871A>C c.4265A>C (n.4265A>C) c.10648A>C (p.Thr3550Pro) n.4577A>C c.10777A>C (p.Thr3593Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572651A>G | CA1715057 | ALMS1 | c.10393A>G (p.Thr3465Ala) c.3479A>G c.7674A>G c.4840A>G (p.Thr1614Ala) c.7719A>G c.10774A>G (p.Thr3592Ala) c.928A>G (p.Thr310Ala) c.2130A>G c.162A>G c.1871A>G c.4265A>G (n.4265A>G) c.10648A>G (p.Thr3550Ala) n.4577A>G c.10777A>G (p.Thr3593Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572651A>T | CA347285406 | ALMS1 | c.10393A>T (p.Thr3465Ser) c.3479A>T c.7674A>T c.4840A>T (p.Thr1614Ser) c.7719A>T c.10774A>T (p.Thr3592Ser) c.928A>T (p.Thr310Ser) c.2130A>T c.162A>T c.1871A>T c.4265A>T (n.4265A>T) c.10648A>T (p.Thr3550Ser) n.4577A>T c.10777A>T (p.Thr3593Ser) | |
2 | g.73572652del | CA2837994696 | ALMS1 | c.10394del (p.Thr3465IlefsTer5) c.3480del c.7675del c.4841del (p.Thr1614IlefsTer5) c.7720del c.10775del (p.Thr3592IlefsTer5) c.929del (p.Thr310IlefsTer5) c.2131del c.163del c.1872del c.4266del (n.4266del) c.10649del (p.Thr3550IlefsTer5) n.4578del c.10778del (p.Thr3593IlefsTer5) | |
2 | g.73572652C>A | CA347285410 | ALMS1 | c.10394C>A (p.Thr3465Asn) c.3480C>A c.7675C>A c.4841C>A (p.Thr1614Asn) c.7720C>A c.10775C>A (p.Thr3592Asn) c.929C>A (p.Thr310Asn) c.2131C>A c.163C>A c.1872C>A c.4266C>A (n.4266C>A) c.10649C>A (p.Thr3550Asn) n.4578C>A c.10778C>A (p.Thr3593Asn) | |
2 | g.73572652C>G | CA347285412 | ALMS1 | c.10394C>G (p.Thr3465Ser) c.3480C>G c.7675C>G c.4841C>G (p.Thr1614Ser) c.7720C>G c.10775C>G (p.Thr3592Ser) c.929C>G (p.Thr310Ser) c.2131C>G c.163C>G c.1872C>G c.4266C>G (n.4266C>G) c.10649C>G (p.Thr3550Ser) n.4578C>G c.10778C>G (p.Thr3593Ser) | |
2 | g.73572652C>T | CA347285415 | ALMS1 | c.10394C>T (p.Thr3465Ile) c.3480C>T c.7675C>T c.4841C>T (p.Thr1614Ile) c.7720C>T c.10775C>T (p.Thr3592Ile) c.929C>T (p.Thr310Ile) c.2131C>T c.163C>T c.1872C>T c.4266C>T (n.4266C>T) c.10649C>T (p.Thr3550Ile) n.4578C>T c.10778C>T (p.Thr3593Ile) | |
2 | g.73572653T>A | CA427024480 | ALMS1 | c.10395T>A (p.Thr3465=) c.3481T>A c.7676T>A c.4842T>A (p.Thr1614=) c.7721T>A c.10776T>A (p.Thr3592=) c.930T>A (p.Thr310=) c.2132T>A c.164T>A c.1873T>A c.4267T>A (n.4267T>A) c.10650T>A (p.Thr3550=) n.4579T>A c.10779T>A (p.Thr3593=) | |
2 | g.73572653T>C | CA427024482 | ALMS1 | c.10395T>C (p.Thr3465=) c.3481T>C c.7676T>C c.4842T>C (p.Thr1614=) c.7721T>C c.10776T>C (p.Thr3592=) c.930T>C (p.Thr310=) c.2132T>C c.164T>C c.1873T>C c.4267T>C (n.4267T>C) c.10650T>C (p.Thr3550=) n.4579T>C c.10779T>C (p.Thr3593=) | |
2 | g.73572653T>G | CA427024481 | ALMS1 | c.10395T>G (p.Thr3465=) c.3481T>G c.7676T>G c.4842T>G (p.Thr1614=) c.7721T>G c.10776T>G (p.Thr3592=) c.930T>G (p.Thr310=) c.2132T>G c.164T>G c.1873T>G c.4267T>G (n.4267T>G) c.10650T>G (p.Thr3550=) n.4579T>G c.10779T>G (p.Thr3593=) | ClinVar dbSNP |
2 | g.73572654C>A | CA347285422 | ALMS1 | c.10396C>A (p.Gln3466Lys) c.3482C>A c.7677C>A c.4843C>A (p.Gln1615Lys) c.7722C>A c.10777C>A (p.Gln3593Lys) c.931C>A (p.Gln311Lys) c.2133C>A c.165C>A c.1874C>A c.4268C>A (n.4268C>A) c.10651C>A (p.Gln3551Lys) n.4580C>A c.10780C>A (p.Gln3594Lys) | |
2 | g.73572654C>G | CA347285423 | ALMS1 | c.10396C>G (p.Gln3466Glu) c.3482C>G c.7677C>G c.4843C>G (p.Gln1615Glu) c.7722C>G c.10777C>G (p.Gln3593Glu) c.931C>G (p.Gln311Glu) c.2133C>G c.165C>G c.1874C>G c.4268C>G (n.4268C>G) c.10651C>G (p.Gln3551Glu) n.4580C>G c.10780C>G (p.Gln3594Glu) | |
2 | g.73572654C>T | CA347285419 | ALMS1 | c.10396C>T (p.Gln3466Ter) c.3482C>T c.7677C>T c.4843C>T (p.Gln1615Ter) c.7722C>T c.10777C>T (p.Gln3593Ter) c.931C>T (p.Gln311Ter) c.2133C>T c.165C>T c.1874C>T c.4268C>T (n.4268C>T) c.10651C>T (p.Gln3551Ter) n.4580C>T c.10780C>T (p.Gln3594Ter) | |
2 | g.73572655A= | CA1261021507 | ALMS1 | c.10397A= (p.Gln3466=) c.3483A= c.7678A= c.4844A= (p.Gln1615=) c.7723A= c.10778A= (p.Gln3593=) c.932A= (p.Gln311=) c.2134A= c.166A= c.1875A= c.4269A= (n.4269A=) c.10652A= (p.Gln3551=) n.4581A= c.10781A= (p.Gln3594=) | |
2 | g.73572655A>C | CA347285429 | ALMS1 | c.10397A>C (p.Gln3466Pro) c.3483A>C c.7678A>C c.4844A>C (p.Gln1615Pro) c.7723A>C c.10778A>C (p.Gln3593Pro) c.932A>C (p.Gln311Pro) c.2134A>C c.166A>C c.1875A>C c.4269A>C (n.4269A>C) c.10652A>C (p.Gln3551Pro) n.4581A>C c.10781A>C (p.Gln3594Pro) | gnomAD v4 |
2 | g.73572655A>G | CA50386440 | ALMS1 | c.10397A>G (p.Gln3466Arg) c.3483A>G c.7678A>G c.4844A>G (p.Gln1615Arg) c.7723A>G c.10778A>G (p.Gln3593Arg) c.932A>G (p.Gln311Arg) c.2134A>G c.166A>G c.1875A>G c.4269A>G (n.4269A>G) c.10652A>G (p.Gln3551Arg) n.4581A>G c.10781A>G (p.Gln3594Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572655A>T | CA347285428 | ALMS1 | c.10397A>T (p.Gln3466Leu) c.3483A>T c.7678A>T c.4844A>T (p.Gln1615Leu) c.7723A>T c.10778A>T (p.Gln3593Leu) c.932A>T (p.Gln311Leu) c.2134A>T c.166A>T c.1875A>T c.4269A>T (n.4269A>T) c.10652A>T (p.Gln3551Leu) n.4581A>T c.10781A>T (p.Gln3594Leu) | |
2 | g.73572656G>A | CA427024489 | ALMS1 | c.10398G>A (p.Gln3466=) c.3484G>A c.7679G>A c.4845G>A (p.Gln1615=) c.7724G>A c.10779G>A (p.Gln3593=) c.933G>A (p.Gln311=) c.2135G>A c.167G>A c.1876G>A c.4270G>A (n.4270G>A) c.10653G>A (p.Gln3551=) n.4582G>A c.10782G>A (p.Gln3594=) | |
2 | g.73572656G>C | CA347285431 | ALMS1 | c.10398G>C (p.Gln3466His) c.3484G>C c.7679G>C c.4845G>C (p.Gln1615His) c.7724G>C c.10779G>C (p.Gln3593His) c.933G>C (p.Gln311His) c.2135G>C c.167G>C c.1876G>C c.4270G>C (n.4270G>C) c.10653G>C (p.Gln3551His) n.4582G>C c.10782G>C (p.Gln3594His) | |
2 | g.73572656G>T | CA347285433 | ALMS1 | c.10398G>T (p.Gln3466His) c.3484G>T c.7679G>T c.4845G>T (p.Gln1615His) c.7724G>T c.10779G>T (p.Gln3593His) c.933G>T (p.Gln311His) c.2135G>T c.167G>T c.1876G>T c.4270G>T (n.4270G>T) c.10653G>T (p.Gln3551His) n.4582G>T c.10782G>T (p.Gln3594His) | gnomAD v4 |
2 | g.73572657C>A | CA347285437 | ALMS1 | c.10399C>A (p.His3467Asn) c.3485C>A c.7680C>A c.4846C>A (p.His1616Asn) c.7725C>A c.10780C>A (p.His3594Asn) c.934C>A (p.His312Asn) c.2136C>A c.168C>A c.1877C>A c.4271C>A (n.4271C>A) c.10654C>A (p.His3552Asn) n.4583C>A c.10783C>A (p.His3595Asn) | |
2 | g.73572657C>G | CA347285440 | ALMS1 | c.10399C>G (p.His3467Asp) c.3485C>G c.7680C>G c.4846C>G (p.His1616Asp) c.7725C>G c.10780C>G (p.His3594Asp) c.934C>G (p.His312Asp) c.2136C>G c.168C>G c.1877C>G c.4271C>G (n.4271C>G) c.10654C>G (p.His3552Asp) n.4583C>G c.10783C>G (p.His3595Asp) | |
2 | g.73572657C>T | CA347285442 | ALMS1 | c.10399C>T (p.His3467Tyr) c.3485C>T c.7680C>T c.4846C>T (p.His1616Tyr) c.7725C>T c.10780C>T (p.His3594Tyr) c.934C>T (p.His312Tyr) c.2136C>T c.168C>T c.1877C>T c.4271C>T (n.4271C>T) c.10654C>T (p.His3552Tyr) n.4583C>T c.10783C>T (p.His3595Tyr) | |
2 | g.73572658A= | CA1261021513 | ALMS1 | c.10400A= (p.His3467=) c.3486A= c.7681A= c.4847A= (p.His1616=) c.7726A= c.10781A= (p.His3594=) c.935A= (p.His312=) c.2137A= c.169A= c.1878A= c.4272A= (n.4272A=) c.10655A= (p.His3552=) n.4584A= c.10784A= (p.His3595=) | |
2 | g.73572658A>C | CA347285446 | ALMS1 | c.10400A>C (p.His3467Pro) c.3486A>C c.7681A>C c.4847A>C (p.His1616Pro) c.7726A>C c.10781A>C (p.His3594Pro) c.935A>C (p.His312Pro) c.2137A>C c.169A>C c.1878A>C c.4272A>C (n.4272A>C) c.10655A>C (p.His3552Pro) n.4584A>C c.10784A>C (p.His3595Pro) | |
2 | g.73572658A>G | CA347285448 | ALMS1 | c.10400A>G (p.His3467Arg) c.3486A>G c.7681A>G c.4847A>G (p.His1616Arg) c.7726A>G c.10781A>G (p.His3594Arg) c.935A>G (p.His312Arg) c.2137A>G c.169A>G c.1878A>G c.4272A>G (n.4272A>G) c.10655A>G (p.His3552Arg) n.4584A>G c.10784A>G (p.His3595Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572658A>T | CA347285450 | ALMS1 | c.10400A>T (p.His3467Leu) c.3486A>T c.7681A>T c.4847A>T (p.His1616Leu) c.7726A>T c.10781A>T (p.His3594Leu) c.935A>T (p.His312Leu) c.2137A>T c.169A>T c.1878A>T c.4272A>T (n.4272A>T) c.10655A>T (p.His3552Leu) n.4584A>T c.10784A>T (p.His3595Leu) | |
2 | g.73572659C>A | CA347285454 | ALMS1 | c.10401C>A (p.His3467Gln) c.3487C>A c.7682C>A c.4848C>A (p.His1616Gln) c.7727C>A c.10782C>A (p.His3594Gln) c.936C>A (p.His312Gln) c.2138C>A c.170C>A c.1879C>A c.4273C>A (n.4273C>A) c.10656C>A (p.His3552Gln) n.4585C>A c.10785C>A (p.His3595Gln) | |
2 | g.73572659C>G | CA347285456 | ALMS1 | c.10401C>G (p.His3467Gln) c.3487C>G c.7682C>G c.4848C>G (p.His1616Gln) c.7727C>G c.10782C>G (p.His3594Gln) c.936C>G (p.His312Gln) c.2138C>G c.170C>G c.1879C>G c.4273C>G (n.4273C>G) c.10656C>G (p.His3552Gln) n.4585C>G c.10785C>G (p.His3595Gln) | |
2 | g.73572659C>T | CA427024493 | ALMS1 | c.10401C>T (p.His3467=) c.3487C>T c.7682C>T c.4848C>T (p.His1616=) c.7727C>T c.10782C>T (p.His3594=) c.936C>T (p.His312=) c.2138C>T c.170C>T c.1879C>T c.4273C>T (n.4273C>T) c.10656C>T (p.His3552=) n.4585C>T c.10785C>T (p.His3595=) | ClinVar |
2 | g.73572659_73572669del | CA2697548293 | ALMS1 | c.10401_10411del (p.Thr3468GlufsTer2) c.3487_3497del c.7682_7692del c.4848_4858del (p.Thr1617GlufsTer2) c.7727_7737del c.10782_10792del (p.Thr3595GlufsTer2) c.936_946del (p.Thr313GlufsTer2) c.2138_2148del c.170_180del c.1879_1889del c.4273_4283del (n.4273_4283del) c.10656_10666del (p.Thr3553GlufsTer2) n.4585_4595del c.10785_10795del (p.Thr3596GlufsTer2) | ClinVar |
2 | g.73572660A>C | CA347285464 | ALMS1 | c.10402A>C (p.Thr3468Pro) c.3488A>C c.7683A>C c.4849A>C (p.Thr1617Pro) c.7728A>C c.10783A>C (p.Thr3595Pro) c.937A>C (p.Thr313Pro) c.2139A>C c.171A>C c.1880A>C c.4274A>C (n.4274A>C) c.10657A>C (p.Thr3553Pro) n.4586A>C c.10786A>C (p.Thr3596Pro) | |
2 | g.73572660A>G | CA347285460 | ALMS1 | c.10402A>G (p.Thr3468Ala) c.3488A>G c.7683A>G c.4849A>G (p.Thr1617Ala) c.7728A>G c.10783A>G (p.Thr3595Ala) c.937A>G (p.Thr313Ala) c.2139A>G c.171A>G c.1880A>G c.4274A>G (n.4274A>G) c.10657A>G (p.Thr3553Ala) n.4586A>G c.10786A>G (p.Thr3596Ala) | |
2 | g.73572660A>T | CA347285462 | ALMS1 | c.10402A>T (p.Thr3468Ser) c.3488A>T c.7683A>T c.4849A>T (p.Thr1617Ser) c.7728A>T c.10783A>T (p.Thr3595Ser) c.937A>T (p.Thr313Ser) c.2139A>T c.171A>T c.1880A>T c.4274A>T (n.4274A>T) c.10657A>T (p.Thr3553Ser) n.4586A>T c.10786A>T (p.Thr3596Ser) | ClinVar |
2 | g.73572661C>A | CA347285468 | ALMS1 | c.10403C>A (p.Thr3468Asn) c.3489C>A c.7684C>A c.4850C>A (p.Thr1617Asn) c.7729C>A c.10784C>A (p.Thr3595Asn) c.938C>A (p.Thr313Asn) c.2140C>A c.172C>A c.1881C>A c.4275C>A (n.4275C>A) c.10658C>A (p.Thr3553Asn) n.4587C>A c.10787C>A (p.Thr3596Asn) | |
2 | g.73572661C>G | CA347285470 | ALMS1 | c.10403C>G (p.Thr3468Ser) c.3489C>G c.7684C>G c.4850C>G (p.Thr1617Ser) c.7729C>G c.10784C>G (p.Thr3595Ser) c.938C>G (p.Thr313Ser) c.2140C>G c.172C>G c.1881C>G c.4275C>G (n.4275C>G) c.10658C>G (p.Thr3553Ser) n.4587C>G c.10787C>G (p.Thr3596Ser) | |
2 | g.73572661C>T | CA347285471 | ALMS1 | c.10403C>T (p.Thr3468Ile) c.3489C>T c.7684C>T c.4850C>T (p.Thr1617Ile) c.7729C>T c.10784C>T (p.Thr3595Ile) c.938C>T (p.Thr313Ile) c.2140C>T c.172C>T c.1881C>T c.4275C>T (n.4275C>T) c.10658C>T (p.Thr3553Ile) n.4587C>T c.10787C>T (p.Thr3596Ile) | |
2 | g.73572661_73572663del | CA913090898 | ALMS1 | c.10403_10405del (p.Thr3468_Val3469delinsMet) c.3489_3491del c.7684_7686del c.4850_4852del (p.Thr1617_Val1618delinsMet) c.7729_7731del c.10784_10786del (p.Thr3595_Val3596delinsMet) c.938_940del (p.Thr313_Val314delinsMet) c.2140_2142del c.172_174del c.1881_1883del c.4275_4277del (n.4275_4277del) c.10658_10660del (p.Thr3553_Val3554delinsMet) n.4587_4589del c.10787_10789del (p.Thr3596_Val3597delinsMet) | |
2 | g.73572661_73572663delinsCTG | CA1261021517 | ALMS1 | c.10403_10405delinsCTG (p.Thr3468=) c.3489_3491delinsCTG c.7684_7686delinsCTG c.4850_4852delinsCTG (p.Thr1617=) c.7729_7731delinsCTG c.10784_10786delinsCTG (p.Thr3595=) c.938_940delinsCTG (p.Thr313=) c.2140_2142delinsCTG c.172_174delinsCTG c.1881_1883delinsCTG c.4275_4277delinsCTG (n.4275_4277delinsCTG) c.10658_10660delinsCTG (p.Thr3553=) n.4587_4589delinsCTG c.10787_10789delinsCTG (p.Thr3596=) | |
2 | g.73572662T>A | CA1715058 | ALMS1 | c.10404T>A (p.Thr3468=) c.3490T>A c.7685T>A c.4851T>A (p.Thr1617=) c.7730T>A c.10785T>A (p.Thr3595=) c.939T>A (p.Thr313=) c.2141T>A c.173T>A c.1882T>A c.4276T>A (n.4276T>A) c.10659T>A (p.Thr3553=) n.4588T>A c.10788T>A (p.Thr3596=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572662T>C | CA427024508 | ALMS1 | c.10404T>C (p.Thr3468=) c.3490T>C c.7685T>C c.4851T>C (p.Thr1617=) c.7730T>C c.10785T>C (p.Thr3595=) c.939T>C (p.Thr313=) c.2141T>C c.173T>C c.1882T>C c.4276T>C (n.4276T>C) c.10659T>C (p.Thr3553=) n.4588T>C c.10788T>C (p.Thr3596=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572662T>G | CA427024504 | ALMS1 | c.10404T>G (p.Thr3468=) c.3490T>G c.7685T>G c.4851T>G (p.Thr1617=) c.7730T>G c.10785T>G (p.Thr3595=) c.939T>G (p.Thr313=) c.2141T>G c.173T>G c.1882T>G c.4276T>G (n.4276T>G) c.10659T>G (p.Thr3553=) n.4588T>G c.10788T>G (p.Thr3596=) | |
2 | g.73572662T= | CA1261021536 | ALMS1 | c.10404T= (p.Thr3468=) c.3490T= c.7685T= c.4851T= (p.Thr1617=) c.7730T= c.10785T= (p.Thr3595=) c.939T= (p.Thr313=) c.2141T= c.173T= c.1882T= c.4276T= (n.4276T=) c.10659T= (p.Thr3553=) n.4588T= c.10788T= (p.Thr3596=) | |
2 | g.73572664_73572665del | CA534123607 | ALMS1 | c.10406_10407del (p.Val3469GlufsTer4) c.3492_3493del c.7687_7688del c.4853_4854del (p.Val1618GlufsTer4) c.7732_7733del c.10787_10788del (p.Val3596GlufsTer4) c.941_942del (p.Val314GlufsTer4) c.2143_2144del c.175_176del c.1884_1885del c.4278_4279del (n.4278_4279del) c.10661_10662del (p.Val3554GlufsTer4) n.4590_4591del c.10790_10791del (p.Val3597GlufsTer4) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572663G>A | CA347285479 | ALMS1 | c.10405G>A (p.Val3469Met) c.3491G>A c.7686G>A c.4852G>A (p.Val1618Met) c.7731G>A c.10786G>A (p.Val3596Met) c.940G>A (p.Val314Met) c.2142G>A c.174G>A c.1883G>A c.4277G>A (n.4277G>A) c.10660G>A (p.Val3554Met) n.4589G>A c.10789G>A (p.Val3597Met) | |
2 | g.73572663G>C | CA347285480 | ALMS1 | c.10405G>C (p.Val3469Leu) c.3491G>C c.7686G>C c.4852G>C (p.Val1618Leu) c.7731G>C c.10786G>C (p.Val3596Leu) c.940G>C (p.Val314Leu) c.2142G>C c.174G>C c.1883G>C c.4277G>C (n.4277G>C) c.10660G>C (p.Val3554Leu) n.4589G>C c.10789G>C (p.Val3597Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572663G= | CA1261021541 | ALMS1 | c.10405G= (p.Val3469=) c.3491G= c.7686G= c.4852G= (p.Val1618=) c.7731G= c.10786G= (p.Val3596=) c.940G= (p.Val314=) c.2142G= c.174G= c.1883G= c.4277G= (n.4277G=) c.10660G= (p.Val3554=) n.4589G= c.10789G= (p.Val3597=) | |
2 | g.73572663G>T | CA347285483 | ALMS1 | c.10405G>T (p.Val3469Leu) c.3491G>T c.7686G>T c.4852G>T (p.Val1618Leu) c.7731G>T c.10786G>T (p.Val3596Leu) c.940G>T (p.Val314Leu) c.2142G>T c.174G>T c.1883G>T c.4277G>T (n.4277G>T) c.10660G>T (p.Val3554Leu) n.4589G>T c.10789G>T (p.Val3597Leu) | |
2 | g.73572664T>A | CA347285487 | ALMS1 | c.10406T>A (p.Val3469Glu) c.3492T>A c.7687T>A c.4853T>A (p.Val1618Glu) c.7732T>A c.10787T>A (p.Val3596Glu) c.941T>A (p.Val314Glu) c.2143T>A c.175T>A c.1884T>A c.4278T>A (n.4278T>A) c.10661T>A (p.Val3554Glu) n.4590T>A c.10790T>A (p.Val3597Glu) | |
2 | g.73572664T>C | CA347285489 | ALMS1 | c.10406T>C (p.Val3469Ala) c.3492T>C c.7687T>C c.4853T>C (p.Val1618Ala) c.7732T>C c.10787T>C (p.Val3596Ala) c.941T>C (p.Val314Ala) c.2143T>C c.175T>C c.1884T>C c.4278T>C (n.4278T>C) c.10661T>C (p.Val3554Ala) n.4590T>C c.10790T>C (p.Val3597Ala) | |
2 | g.73572664T>G | CA347285491 | ALMS1 | c.10406T>G (p.Val3469Gly) c.3492T>G c.7687T>G c.4853T>G (p.Val1618Gly) c.7732T>G c.10787T>G (p.Val3596Gly) c.941T>G (p.Val314Gly) c.2143T>G c.175T>G c.1884T>G c.4278T>G (n.4278T>G) c.10661T>G (p.Val3554Gly) n.4590T>G c.10790T>G (p.Val3597Gly) | |
2 | g.73572665G>A | CA1715060 | ALMS1 | c.10407G>A (p.Val3469=) c.3493G>A c.7688G>A c.4854G>A (p.Val1618=) c.7733G>A c.10788G>A (p.Val3596=) c.942G>A (p.Val314=) c.2144G>A c.176G>A c.1885G>A c.4279G>A (n.4279G>A) c.10662G>A (p.Val3554=) n.4591G>A c.10791G>A (p.Val3597=) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.73572665G>C | CA1715059 | ALMS1 | c.10407G>C (p.Val3469=) c.3493G>C c.7688G>C c.4854G>C (p.Val1618=) c.7733G>C c.10788G>C (p.Val3596=) c.942G>C (p.Val314=) c.2144G>C c.176G>C c.1885G>C c.4279G>C (n.4279G>C) c.10662G>C (p.Val3554=) n.4591G>C c.10791G>C (p.Val3597=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572665G= | CA1261021546 | ALMS1 | c.10407G= (p.Val3469=) c.3493G= c.7688G= c.4854G= (p.Val1618=) c.7733G= c.10788G= (p.Val3596=) c.942G= (p.Val314=) c.2144G= c.176G= c.1885G= c.4279G= (n.4279G=) c.10662G= (p.Val3554=) n.4591G= c.10791G= (p.Val3597=) | |
2 | g.73572665G>T | CA427024512 | ALMS1 | c.10407G>T (p.Val3469=) c.3493G>T c.7688G>T c.4854G>T (p.Val1618=) c.7733G>T c.10788G>T (p.Val3596=) c.942G>T (p.Val314=) c.2144G>T c.176G>T c.1885G>T c.4279G>T (n.4279G>T) c.10662G>T (p.Val3554=) n.4591G>T c.10791G>T (p.Val3597=) | |
2 | g.73572666A>C | CA347285502 | ALMS1 | c.10408A>C (p.Ser3470Arg) c.3494A>C c.7689A>C c.4855A>C (p.Ser1619Arg) c.7734A>C c.10789A>C (p.Ser3597Arg) c.943A>C (p.Ser315Arg) c.2145A>C c.177A>C c.1886A>C c.4280A>C (n.4280A>C) c.10663A>C (p.Ser3555Arg) n.4592A>C c.10792A>C (p.Ser3598Arg) | |
2 | g.73572666A>G | CA347285504 | ALMS1 | c.10408A>G (p.Ser3470Gly) c.3494A>G c.7689A>G c.4855A>G (p.Ser1619Gly) c.7734A>G c.10789A>G (p.Ser3597Gly) c.943A>G (p.Ser315Gly) c.2145A>G c.177A>G c.1886A>G c.4280A>G (n.4280A>G) c.10663A>G (p.Ser3555Gly) n.4592A>G c.10792A>G (p.Ser3598Gly) | gnomAD v4 |
2 | g.73572666A>T | CA347285500 | ALMS1 | c.10408A>T (p.Ser3470Cys) c.3494A>T c.7689A>T c.4855A>T (p.Ser1619Cys) c.7734A>T c.10789A>T (p.Ser3597Cys) c.943A>T (p.Ser315Cys) c.2145A>T c.177A>T c.1886A>T c.4280A>T (n.4280A>T) c.10663A>T (p.Ser3555Cys) n.4592A>T c.10792A>T (p.Ser3598Cys) | |
2 | g.73572667G>A | CA347285507 | ALMS1 | c.10409G>A (p.Ser3470Asn) c.3495G>A c.7690G>A c.4856G>A (p.Ser1619Asn) c.7735G>A c.10790G>A (p.Ser3597Asn) c.944G>A (p.Ser315Asn) c.2146G>A c.178G>A c.1887G>A c.4281G>A (n.4281G>A) c.10664G>A (p.Ser3555Asn) n.4593G>A c.10793G>A (p.Ser3598Asn) | dbSNP gnomAD v4 |
2 | g.73572667G>C | CA347285510 | ALMS1 | c.10409G>C (p.Ser3470Thr) c.3495G>C c.7690G>C c.4856G>C (p.Ser1619Thr) c.7735G>C c.10790G>C (p.Ser3597Thr) c.944G>C (p.Ser315Thr) c.2146G>C c.178G>C c.1887G>C c.4281G>C (n.4281G>C) c.10664G>C (p.Ser3555Thr) n.4593G>C c.10793G>C (p.Ser3598Thr) | |
2 | g.73572667G= | CA1261021554 | ALMS1 | c.10409G= (p.Ser3470=) c.3495G= c.7690G= c.4856G= (p.Ser1619=) c.7735G= c.10790G= (p.Ser3597=) c.944G= (p.Ser315=) c.2146G= c.178G= c.1887G= c.4281G= (n.4281G=) c.10664G= (p.Ser3555=) n.4593G= c.10793G= (p.Ser3598=) | |
2 | g.73572667G>T | CA347285512 | ALMS1 | c.10409G>T (p.Ser3470Ile) c.3495G>T c.7690G>T c.4856G>T (p.Ser1619Ile) c.7735G>T c.10790G>T (p.Ser3597Ile) c.944G>T (p.Ser315Ile) c.2146G>T c.178G>T c.1887G>T c.4281G>T (n.4281G>T) c.10664G>T (p.Ser3555Ile) n.4593G>T c.10793G>T (p.Ser3598Ile) | |
2 | g.73572668T>A | CA347285514 | ALMS1 | c.10410T>A (p.Ser3470Arg) c.3496T>A c.7691T>A c.4857T>A (p.Ser1619Arg) c.7736T>A c.10791T>A (p.Ser3597Arg) c.945T>A (p.Ser315Arg) c.2147T>A c.179T>A c.1888T>A c.4282T>A (n.4282T>A) c.10665T>A (p.Ser3555Arg) n.4594T>A c.10794T>A (p.Ser3598Arg) | gnomAD v4 |
2 | g.73572668T>C | CA427024518 | ALMS1 | c.10410T>C (p.Ser3470=) c.3496T>C c.7691T>C c.4857T>C (p.Ser1619=) c.7736T>C c.10791T>C (p.Ser3597=) c.945T>C (p.Ser315=) c.2147T>C c.179T>C c.1888T>C c.4282T>C (n.4282T>C) c.10665T>C (p.Ser3555=) n.4594T>C c.10794T>C (p.Ser3598=) | |
2 | g.73572668T>G | CA347285516 | ALMS1 | c.10410T>G (p.Ser3470Arg) c.3496T>G c.7691T>G c.4857T>G (p.Ser1619Arg) c.7736T>G c.10791T>G (p.Ser3597Arg) c.945T>G (p.Ser315Arg) c.2147T>G c.179T>G c.1888T>G c.4282T>G (n.4282T>G) c.10665T>G (p.Ser3555Arg) n.4594T>G c.10794T>G (p.Ser3598Arg) | |
2 | g.73572669T>A | CA347285519 | ALMS1 | c.10411T>A (p.Leu3471Met) c.3497T>A c.7692T>A c.4858T>A (p.Leu1620Met) c.7737T>A c.10792T>A (p.Leu3598Met) c.946T>A (p.Leu316Met) c.2148T>A c.180T>A c.1889T>A c.4283T>A (n.4283T>A) c.10666T>A (p.Leu3556Met) n.4595T>A c.10795T>A (p.Leu3599Met) | |
2 | g.73572669T>C | CA427024520 | ALMS1 | c.10411T>C (p.Leu3471=) c.3497T>C c.7692T>C c.4858T>C (p.Leu1620=) c.7737T>C c.10792T>C (p.Leu3598=) c.946T>C (p.Leu316=) c.2148T>C c.180T>C c.1889T>C c.4283T>C (n.4283T>C) c.10666T>C (p.Leu3556=) n.4595T>C c.10795T>C (p.Leu3599=) | ClinVar dbSNP |
2 | g.73572669T>G | CA347285522 | ALMS1 | c.10411T>G (p.Leu3471Val) c.3497T>G c.7692T>G c.4858T>G (p.Leu1620Val) c.7737T>G c.10792T>G (p.Leu3598Val) c.946T>G (p.Leu316Val) c.2148T>G c.180T>G c.1889T>G c.4283T>G (n.4283T>G) c.10666T>G (p.Leu3556Val) n.4595T>G c.10795T>G (p.Leu3599Val) | ClinVar |
2 | g.73572669_73572673delinsTTGAA | CA1261021559 | ALMS1 | c.10411_10415delinsTTGAA (p.Leu3471=) c.3497_3501delinsTTGAA c.7692_7696delinsTTGAA c.4858_4862delinsTTGAA (p.Leu1620=) c.7737_7741delinsTTGAA c.10792_10796delinsTTGAA (p.Leu3598=) c.946_950delinsTTGAA (p.Leu316=) c.2148_2152delinsTTGAA c.180_184delinsTTGAA c.1889_1893delinsTTGAA c.4283_4287delinsTTGAA (n.4283_4287delinsTTGAA) c.10666_10670delinsTTGAA (p.Leu3556=) n.4595_4599delinsTTGAA c.10795_10799delinsTTGAA (p.Leu3599=) | |
2 | g.73572670_73572674del | CA913090899 | ALMS1 | c.10412_10416del (p.Leu3471Ter) c.3498_3502del c.7693_7697del c.4859_4863del (p.Leu1620Ter) c.7738_7742del c.10793_10797del (p.Leu3598Ter) c.947_951del (p.Leu316Ter) c.2149_2153del c.181_185del c.1890_1894del c.4284_4288del (n.4284_4288del) c.10667_10671del (p.Leu3556Ter) n.4596_4600del c.10796_10800del (p.Leu3599Ter) | |
2 | g.73572670T>A | CA347285525 | ALMS1 | c.10412T>A (p.Leu3471Ter) c.3498T>A c.7693T>A c.4859T>A (p.Leu1620Ter) c.7738T>A c.10793T>A (p.Leu3598Ter) c.947T>A (p.Leu316Ter) c.2149T>A c.181T>A c.1890T>A c.4284T>A (n.4284T>A) c.10667T>A (p.Leu3556Ter) n.4596T>A c.10796T>A (p.Leu3599Ter) | |
2 | g.73572670T>C | CA347285530 | ALMS1 | c.10412T>C (p.Leu3471Ser) c.3498T>C c.7693T>C c.4859T>C (p.Leu1620Ser) c.7738T>C c.10793T>C (p.Leu3598Ser) c.947T>C (p.Leu316Ser) c.2149T>C c.181T>C c.1890T>C c.4284T>C (n.4284T>C) c.10667T>C (p.Leu3556Ser) n.4596T>C c.10796T>C (p.Leu3599Ser) | |
2 | g.73572670T>G | CA347285527 | ALMS1 | c.10412T>G (p.Leu3471Trp) c.3498T>G c.7693T>G c.4859T>G (p.Leu1620Trp) c.7738T>G c.10793T>G (p.Leu3598Trp) c.947T>G (p.Leu316Trp) c.2149T>G c.181T>G c.1890T>G c.4284T>G (n.4284T>G) c.10667T>G (p.Leu3556Trp) n.4596T>G c.10796T>G (p.Leu3599Trp) | |
2 | g.73572674_73572677del | CA658822831 | ALMS1 | c.10416_10419del (p.Glu3473CysfsTer?) c.3502_3505del c.7697_7700del c.4863_4866del (p.Glu1622CysfsTer?) c.7742_7745del c.10797_10800del (p.Glu3600CysfsTer?) c.951_954del (p.Glu318CysfsTer?) c.2153_2156del c.185_188del c.1894_1897del c.4288_4291del (n.4288_4291del) c.10671_10674del (p.Glu3558CysfsTer?) n.4600_4603del c.10800_10803del (p.Glu3601CysfsTer?) | ClinVar dbSNP |
2 | g.73572671G>A | CA427024522 | ALMS1 | c.10413G>A (p.Leu3471=) c.3499G>A c.7694G>A c.4860G>A (p.Leu1620=) c.7739G>A c.10794G>A (p.Leu3598=) c.948G>A (p.Leu316=) c.2150G>A c.182G>A c.1891G>A c.4285G>A (n.4285G>A) c.10668G>A (p.Leu3556=) n.4597G>A c.10797G>A (p.Leu3599=) | |
2 | g.73572671G>C | CA347285533 | ALMS1 | c.10413G>C (p.Leu3471Phe) c.3499G>C c.7694G>C c.4860G>C (p.Leu1620Phe) c.7739G>C c.10794G>C (p.Leu3598Phe) c.948G>C (p.Leu316Phe) c.2150G>C c.182G>C c.1891G>C c.4285G>C (n.4285G>C) c.10668G>C (p.Leu3556Phe) n.4597G>C c.10797G>C (p.Leu3599Phe) | |
2 | g.73572671G>T | CA347285536 | ALMS1 | c.10413G>T (p.Leu3471Phe) c.3499G>T c.7694G>T c.4860G>T (p.Leu1620Phe) c.7739G>T c.10794G>T (p.Leu3598Phe) c.948G>T (p.Leu316Phe) c.2150G>T c.182G>T c.1891G>T c.4285G>T (n.4285G>T) c.10668G>T (p.Leu3556Phe) n.4597G>T c.10797G>T (p.Leu3599Phe) | |
2 | g.73572672A>C | CA347285539 | ALMS1 | c.10414A>C (p.Asn3472His) c.3500A>C c.7695A>C c.4861A>C (p.Asn1621His) c.7740A>C c.10795A>C (p.Asn3599His) c.949A>C (p.Asn317His) c.2151A>C c.183A>C c.1892A>C c.4286A>C (n.4286A>C) c.10669A>C (p.Asn3557His) n.4598A>C c.10798A>C (p.Asn3600His) | |
2 | g.73572672A>G | CA347285541 | ALMS1 | c.10414A>G (p.Asn3472Asp) c.3500A>G c.7695A>G c.4861A>G (p.Asn1621Asp) c.7740A>G c.10795A>G (p.Asn3599Asp) c.949A>G (p.Asn317Asp) c.2151A>G c.183A>G c.1892A>G c.4286A>G (n.4286A>G) c.10669A>G (p.Asn3557Asp) n.4598A>G c.10798A>G (p.Asn3600Asp) | |
2 | g.73572672A>T | CA347285544 | ALMS1 | c.10414A>T (p.Asn3472Tyr) c.3500A>T c.7695A>T c.4861A>T (p.Asn1621Tyr) c.7740A>T c.10795A>T (p.Asn3599Tyr) c.949A>T (p.Asn317Tyr) c.2151A>T c.183A>T c.1892A>T c.4286A>T (n.4286A>T) c.10669A>T (p.Asn3557Tyr) n.4598A>T c.10798A>T (p.Asn3600Tyr) | |
2 | g.73572673A>C | CA347285547 | ALMS1 | c.10415A>C (p.Asn3472Thr) c.3501A>C c.7696A>C c.4862A>C (p.Asn1621Thr) c.7741A>C c.10796A>C (p.Asn3599Thr) c.950A>C (p.Asn317Thr) c.2152A>C c.184A>C c.1893A>C c.4287A>C (n.4287A>C) c.10670A>C (p.Asn3557Thr) n.4599A>C c.10799A>C (p.Asn3600Thr) | |
2 | g.73572673A>G | CA347285552 | ALMS1 | c.10415A>G (p.Asn3472Ser) c.3501A>G c.7696A>G c.4862A>G (p.Asn1621Ser) c.7741A>G c.10796A>G (p.Asn3599Ser) c.950A>G (p.Asn317Ser) c.2152A>G c.184A>G c.1893A>G c.4287A>G (n.4287A>G) c.10670A>G (p.Asn3557Ser) n.4599A>G c.10799A>G (p.Asn3600Ser) | |
2 | g.73572673A>T | CA347285550 | ALMS1 | c.10415A>T (p.Asn3472Ile) c.3501A>T c.7696A>T c.4862A>T (p.Asn1621Ile) c.7741A>T c.10796A>T (p.Asn3599Ile) c.950A>T (p.Asn317Ile) c.2152A>T c.184A>T c.1893A>T c.4287A>T (n.4287A>T) c.10670A>T (p.Asn3557Ile) n.4599A>T c.10799A>T (p.Asn3600Ile) | |
2 | g.73572674T>A | CA347285555 | ALMS1 | c.10416T>A (p.Asn3472Lys) c.3502T>A c.7697T>A c.4863T>A (p.Asn1621Lys) c.7742T>A c.10797T>A (p.Asn3599Lys) c.951T>A (p.Asn317Lys) c.2153T>A c.185T>A c.1894T>A c.4288T>A (n.4288T>A) c.10671T>A (p.Asn3557Lys) n.4600T>A c.10800T>A (p.Asn3600Lys) | |
2 | g.73572674T>C | CA427024532 | ALMS1 | c.10416T>C (p.Asn3472=) c.3502T>C c.7697T>C c.4863T>C (p.Asn1621=) c.7742T>C c.10797T>C (p.Asn3599=) c.951T>C (p.Asn317=) c.2153T>C c.185T>C c.1894T>C c.4288T>C (n.4288T>C) c.10671T>C (p.Asn3557=) n.4600T>C c.10800T>C (p.Asn3600=) | ClinVar dbSNP |
2 | g.73572674T>G | CA347285557 | ALMS1 | c.10416T>G (p.Asn3472Lys) c.3502T>G c.7697T>G c.4863T>G (p.Asn1621Lys) c.7742T>G c.10797T>G (p.Asn3599Lys) c.951T>G (p.Asn317Lys) c.2153T>G c.185T>G c.1894T>G c.4288T>G (n.4288T>G) c.10671T>G (p.Asn3557Lys) n.4600T>G c.10800T>G (p.Asn3600Lys) | |
2 | g.73572675G>A | CA347285560 | ALMS1 | c.10417G>A (p.Glu3473Lys) c.3503G>A c.7698G>A c.4864G>A (p.Glu1622Lys) c.7743G>A c.10798G>A (p.Glu3600Lys) c.952G>A (p.Glu318Lys) c.2154G>A c.186G>A c.1895G>A c.4289G>A (n.4289G>A) c.10672G>A (p.Glu3558Lys) n.4601G>A c.10801G>A (p.Glu3601Lys) | gnomAD v4 |
2 | g.73572675G>C | CA347285562 | ALMS1 | c.10417G>C (p.Glu3473Gln) c.3503G>C c.7698G>C c.4864G>C (p.Glu1622Gln) c.7743G>C c.10798G>C (p.Glu3600Gln) c.952G>C (p.Glu318Gln) c.2154G>C c.186G>C c.1895G>C c.4289G>C (n.4289G>C) c.10672G>C (p.Glu3558Gln) n.4601G>C c.10801G>C (p.Glu3601Gln) | |
2 | g.73572675G>T | CA347285564 | ALMS1 | c.10417G>T (p.Glu3473Ter) c.3503G>T c.7698G>T c.4864G>T (p.Glu1622Ter) c.7743G>T c.10798G>T (p.Glu3600Ter) c.952G>T (p.Glu318Ter) c.2154G>T c.186G>T c.1895G>T c.4289G>T (n.4289G>T) c.10672G>T (p.Glu3558Ter) n.4601G>T c.10801G>T (p.Glu3601Ter) | ClinVar |
2 | g.73572676A>C | CA347285567 | ALMS1 | c.10418A>C (p.Glu3473Ala) c.3504A>C c.7699A>C c.4865A>C (p.Glu1622Ala) c.7744A>C c.10799A>C (p.Glu3600Ala) c.953A>C (p.Glu318Ala) c.2155A>C c.187A>C c.1896A>C c.4290A>C (n.4290A>C) c.10673A>C (p.Glu3558Ala) n.4602A>C c.10802A>C (p.Glu3601Ala) | |
2 | g.73572676A>G | CA347285570 | ALMS1 | c.10418A>G (p.Glu3473Gly) c.3504A>G c.7699A>G c.4865A>G (p.Glu1622Gly) c.7744A>G c.10799A>G (p.Glu3600Gly) c.953A>G (p.Glu318Gly) c.2155A>G c.187A>G c.1896A>G c.4290A>G (n.4290A>G) c.10673A>G (p.Glu3558Gly) n.4602A>G c.10802A>G (p.Glu3601Gly) | |
2 | g.73572676A>T | CA347285572 | ALMS1 | c.10418A>T (p.Glu3473Val) c.3504A>T c.7699A>T c.4865A>T (p.Glu1622Val) c.7744A>T c.10799A>T (p.Glu3600Val) c.953A>T (p.Glu318Val) c.2155A>T c.187A>T c.1896A>T c.4290A>T (n.4290A>T) c.10673A>T (p.Glu3558Val) n.4602A>T c.10802A>T (p.Glu3601Val) | gnomAD v4 |
2 | g.73572677A>C | CA347285575 | ALMS1 | c.10419A>C (p.Glu3473Asp) c.3505A>C c.7700A>C c.4866A>C (p.Glu1622Asp) c.7745A>C c.10800A>C (p.Glu3600Asp) c.954A>C (p.Glu318Asp) c.2156A>C c.188A>C c.1897A>C c.4291A>C (n.4291A>C) c.10674A>C (p.Glu3558Asp) n.4603A>C c.10803A>C (p.Glu3601Asp) | |
2 | g.73572677A>G | CA427024538 | ALMS1 | c.10419A>G (p.Glu3473=) c.3505A>G c.7700A>G c.4866A>G (p.Glu1622=) c.7745A>G c.10800A>G (p.Glu3600=) c.954A>G (p.Glu318=) c.2156A>G c.188A>G c.1897A>G c.4291A>G (n.4291A>G) c.10674A>G (p.Glu3558=) n.4603A>G c.10803A>G (p.Glu3601=) | gnomAD v4 |
2 | g.73572677A>T | CA347285577 | ALMS1 | c.10419A>T (p.Glu3473Asp) c.3505A>T c.7700A>T c.4866A>T (p.Glu1622Asp) c.7745A>T c.10800A>T (p.Glu3600Asp) c.954A>T (p.Glu318Asp) c.2156A>T c.188A>T c.1897A>T c.4291A>T (n.4291A>T) c.10674A>T (p.Glu3558Asp) n.4603A>T c.10803A>T (p.Glu3601Asp) |