Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.73572405dup | CA892825667 | ALMS1 | c.10147dup (p.Ser3383PhefsTer14) c.3233dup c.7428dup c.4594dup (p.Ser1532PhefsTer14) c.7473dup c.10528dup (p.Ser3510PhefsTer14) c.682dup (p.Ser228PhefsTer14) c.1884dup c.1625dup c.4019dup (n.4019dup) c.10402dup (p.Ser3468PhefsTer14) n.4331dup c.10531dup (p.Ser3511PhefsTer14) | dbSNP |
2 | g.73572405T>A | CA347283424 | ALMS1 | c.10147T>A (p.Ser3383Thr) c.3233T>A c.7428T>A c.4594T>A (p.Ser1532Thr) c.7473T>A c.10528T>A (p.Ser3510Thr) c.682T>A (p.Ser228Thr) c.1884T>A c.1625T>A c.4019T>A (n.4019T>A) c.10402T>A (p.Ser3468Thr) n.4331T>A c.10531T>A (p.Ser3511Thr) | |
2 | g.73572405T>C | CA347283422 | ALMS1 | c.10147T>C (p.Ser3383Pro) c.3233T>C c.7428T>C c.4594T>C (p.Ser1532Pro) c.7473T>C c.10528T>C (p.Ser3510Pro) c.682T>C (p.Ser228Pro) c.1884T>C c.1625T>C c.4019T>C (n.4019T>C) c.10402T>C (p.Ser3468Pro) n.4331T>C c.10531T>C (p.Ser3511Pro) | |
2 | g.73572405T>G | CA347283420 | ALMS1 | c.10147T>G (p.Ser3383Ala) c.3233T>G c.7428T>G c.4594T>G (p.Ser1532Ala) c.7473T>G c.10528T>G (p.Ser3510Ala) c.682T>G (p.Ser228Ala) c.1884T>G c.1625T>G c.4019T>G (n.4019T>G) c.10402T>G (p.Ser3468Ala) n.4331T>G c.10531T>G (p.Ser3511Ala) | |
2 | g.73572406C>A | CA347283426 | ALMS1 | c.10148C>A (p.Ser3383Tyr) c.3234C>A c.7429C>A c.4595C>A (p.Ser1532Tyr) c.7474C>A c.10529C>A (p.Ser3510Tyr) c.683C>A (p.Ser228Tyr) c.1885C>A c.1626C>A c.4020C>A (n.4020C>A) c.10403C>A (p.Ser3468Tyr) n.4332C>A c.10532C>A (p.Ser3511Tyr) | |
2 | g.73572406C= | CA1261021065 | ALMS1 | c.10148C= (p.Ser3383=) c.3234C= c.7429C= c.4595C= (p.Ser1532=) c.7474C= c.10529C= (p.Ser3510=) c.683C= (p.Ser228=) c.1885C= c.1626C= c.4020C= (n.4020C=) c.10403C= (p.Ser3468=) n.4332C= c.10532C= (p.Ser3511=) | |
2 | g.73572406C>G | CA347283428 | ALMS1 | c.10148C>G (p.Ser3383Cys) c.3234C>G c.7429C>G c.4595C>G (p.Ser1532Cys) c.7474C>G c.10529C>G (p.Ser3510Cys) c.683C>G (p.Ser228Cys) c.1885C>G c.1626C>G c.4020C>G (n.4020C>G) c.10403C>G (p.Ser3468Cys) n.4332C>G c.10532C>G (p.Ser3511Cys) | |
2 | g.73572406C>T | CA347283430 | ALMS1 | c.10148C>T (p.Ser3383Phe) c.3234C>T c.7429C>T c.4595C>T (p.Ser1532Phe) c.7474C>T c.10529C>T (p.Ser3510Phe) c.683C>T (p.Ser228Phe) c.1885C>T c.1626C>T c.4020C>T (n.4020C>T) c.10403C>T (p.Ser3468Phe) n.4332C>T c.10532C>T (p.Ser3511Phe) | |
2 | g.73572407T>A | CA427024640 | ALMS1 | c.10149T>A (p.Ser3383=) c.3235T>A c.7430T>A c.4596T>A (p.Ser1532=) c.7475T>A c.10530T>A (p.Ser3510=) c.684T>A (p.Ser228=) c.1886T>A c.1627T>A c.4021T>A (n.4021T>A) c.10404T>A (p.Ser3468=) n.4333T>A c.10533T>A (p.Ser3511=) | |
2 | g.73572407T>C | CA427024636 | ALMS1 | c.10149T>C (p.Ser3383=) c.3235T>C c.7430T>C c.4596T>C (p.Ser1532=) c.7475T>C c.10530T>C (p.Ser3510=) c.684T>C (p.Ser228=) c.1886T>C c.1627T>C c.4021T>C (n.4021T>C) c.10404T>C (p.Ser3468=) n.4333T>C c.10533T>C (p.Ser3511=) | |
2 | g.73572407T>G | CA427024635 | ALMS1 | c.10149T>G (p.Ser3383=) c.3235T>G c.7430T>G c.4596T>G (p.Ser1532=) c.7475T>G c.10530T>G (p.Ser3510=) c.684T>G (p.Ser228=) c.1886T>G c.1627T>G c.4021T>G (n.4021T>G) c.10404T>G (p.Ser3468=) n.4333T>G c.10533T>G (p.Ser3511=) | |
2 | g.73572407T= | CA1261021073 | ALMS1 | c.10149T= (p.Ser3383=) c.3235T= c.7430T= c.4596T= (p.Ser1532=) c.7475T= c.10530T= (p.Ser3510=) c.684T= (p.Ser228=) c.1886T= c.1627T= c.4021T= (n.4021T=) c.10404T= (p.Ser3468=) n.4333T= c.10533T= (p.Ser3511=) | |
2 | g.73572407_73572408insGGAATGTCTTTCCAAGATT | CA2573135801 | ALMS1 | c.10149_10150insGGAATGTCTTTCCAAGATT (p.Trp3384GlyfsTer19) c.3235_3236insGGAATGTCTTTCCAAGATT c.7430_7431insGGAATGTCTTTCCAAGATT c.4596_4597insGGAATGTCTTTCCAAGATT (p.Trp1533GlyfsTer19) c.7475_7476insGGAATGTCTTTCCAAGATT c.10530_10531insGGAATGTCTTTCCAAGATT (p.Trp3511GlyfsTer19) c.684_685insGGAATGTCTTTCCAAGATT (p.Trp229GlyfsTer19) c.1886_1887insGGAATGTCTTTCCAAGATT c.1627_1628insGGAATGTCTTTCCAAGATT c.4021_4022insGGAATGTCTTTCCAAGATT (n.4021_4022insGGAATGTCTTTCCAAGATT) c.10404_10405insGGAATGTCTTTCCAAGATT (p.Trp3469GlyfsTer19) n.4333_4334insGGAATGTCTTTCCAAGATT c.10533_10534insGGAATGTCTTTCCAAGATT (p.Trp3512GlyfsTer19) | ClinVar dbSNP |
2 | g.73572407_73572408insGTCTTTCCAAGATTGGAAT | CA2695200831 | ALMS1 | c.10149_10150insGTCTTTCCAAGATTGGAAT (p.Trp3384ValfsTer19) c.3235_3236insGTCTTTCCAAGATTGGAAT c.7430_7431insGTCTTTCCAAGATTGGAAT c.4596_4597insGTCTTTCCAAGATTGGAAT (p.Trp1533ValfsTer19) c.7475_7476insGTCTTTCCAAGATTGGAAT c.10530_10531insGTCTTTCCAAGATTGGAAT (p.Trp3511ValfsTer19) c.684_685insGTCTTTCCAAGATTGGAAT (p.Trp229ValfsTer19) c.1886_1887insGTCTTTCCAAGATTGGAAT c.1627_1628insGTCTTTCCAAGATTGGAAT c.4021_4022insGTCTTTCCAAGATTGGAAT (n.4021_4022insGTCTTTCCAAGATTGGAAT) c.10404_10405insGTCTTTCCAAGATTGGAAT (p.Trp3469ValfsTer19) n.4333_4334insGTCTTTCCAAGATTGGAAT c.10533_10534insGTCTTTCCAAGATTGGAAT (p.Trp3512ValfsTer19) | ClinVar |
2 | g.73572412_73572413insTGTCTTTCCAAGATTGGAA | CA534124637 | ALMS1 | c.10154_10155insTGTCTTTCCAAGATTGGAA (p.Lys3385AsnfsTer18) c.3240_3241insTGTCTTTCCAAGATTGGAA c.7435_7436insTGTCTTTCCAAGATTGGAA c.4601_4602insTGTCTTTCCAAGATTGGAA (p.Lys1534AsnfsTer18) c.7480_7481insTGTCTTTCCAAGATTGGAA c.10535_10536insTGTCTTTCCAAGATTGGAA (p.Lys3512AsnfsTer18) c.689_690insTGTCTTTCCAAGATTGGAA (p.Lys230AsnfsTer18) c.1891_1892insTGTCTTTCCAAGATTGGAA c.1632_1633insTGTCTTTCCAAGATTGGAA c.4026_4027insTGTCTTTCCAAGATTGGAA (n.4026_4027insTGTCTTTCCAAGATTGGAA) c.10409_10410insTGTCTTTCCAAGATTGGAA (p.Lys3470AsnfsTer18) n.4338_4339insTGTCTTTCCAAGATTGGAA c.10538_10539insTGTCTTTCCAAGATTGGAA (p.Lys3513AsnfsTer18) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572407_73572408insC | CA1261021091 | ALMS1 | c.10149_10150insC (p.Trp3384LeufsTer13) c.3235_3236insC c.7430_7431insC c.4596_4597insC (p.Trp1533LeufsTer13) c.7475_7476insC c.10530_10531insC (p.Trp3511LeufsTer13) c.684_685insC (p.Trp229LeufsTer13) c.1886_1887insC c.1627_1628insC c.4021_4022insC (n.4021_4022insC) c.10404_10405insC (p.Trp3469LeufsTer13) n.4333_4334insC c.10533_10534insC (p.Trp3512LeufsTer13) | dbSNP |
2 | g.73572408T>A | CA347283434 | ALMS1 | c.10150T>A (p.Trp3384Arg) c.3236T>A c.7431T>A c.4597T>A (p.Trp1533Arg) c.7476T>A c.10531T>A (p.Trp3511Arg) c.685T>A (p.Trp229Arg) c.1887T>A c.1628T>A c.4022T>A (n.4022T>A) c.10405T>A (p.Trp3469Arg) n.4334T>A c.10534T>A (p.Trp3512Arg) | |
2 | g.73572408T>C | CA347283436 | ALMS1 | c.10150T>C (p.Trp3384Arg) c.3236T>C c.7431T>C c.4597T>C (p.Trp1533Arg) c.7476T>C c.10531T>C (p.Trp3511Arg) c.685T>C (p.Trp229Arg) c.1887T>C c.1628T>C c.4022T>C (n.4022T>C) c.10405T>C (p.Trp3469Arg) n.4334T>C c.10534T>C (p.Trp3512Arg) | |
2 | g.73572408T>G | CA347283438 | ALMS1 | c.10150T>G (p.Trp3384Gly) c.3236T>G c.7431T>G c.4597T>G (p.Trp1533Gly) c.7476T>G c.10531T>G (p.Trp3511Gly) c.685T>G (p.Trp229Gly) c.1887T>G c.1628T>G c.4022T>G (n.4022T>G) c.10405T>G (p.Trp3469Gly) n.4334T>G c.10534T>G (p.Trp3512Gly) | |
2 | g.73572409G>A | CA347283439 | ALMS1 | c.10151G>A (p.Trp3384Ter) c.3237G>A c.7432G>A c.4598G>A (p.Trp1533Ter) c.7477G>A c.10532G>A (p.Trp3511Ter) c.686G>A (p.Trp229Ter) c.1888G>A c.1629G>A c.4023G>A (n.4023G>A) c.10406G>A (p.Trp3469Ter) n.4335G>A c.10535G>A (p.Trp3512Ter) | dbSNP gnomAD v4 |
2 | g.73572409G>C | CA347283441 | ALMS1 | c.10151G>C (p.Trp3384Ser) c.3237G>C c.7432G>C c.4598G>C (p.Trp1533Ser) c.7477G>C c.10532G>C (p.Trp3511Ser) c.686G>C (p.Trp229Ser) c.1888G>C c.1629G>C c.4023G>C (n.4023G>C) c.10406G>C (p.Trp3469Ser) n.4335G>C c.10535G>C (p.Trp3512Ser) | |
2 | g.73572409G>T | CA347283442 | ALMS1 | c.10151G>T (p.Trp3384Leu) c.3237G>T c.7432G>T c.4598G>T (p.Trp1533Leu) c.7477G>T c.10532G>T (p.Trp3511Leu) c.686G>T (p.Trp229Leu) c.1888G>T c.1629G>T c.4023G>T (n.4023G>T) c.10406G>T (p.Trp3469Leu) n.4335G>T c.10535G>T (p.Trp3512Leu) | |
2 | g.73572410G>A | CA347283444 | ALMS1 | c.10152G>A (p.Trp3384Ter) c.3238G>A c.7433G>A c.4599G>A (p.Trp1533Ter) c.7478G>A c.10533G>A (p.Trp3511Ter) c.687G>A (p.Trp229Ter) c.1889G>A c.1630G>A c.4024G>A (n.4024G>A) c.10407G>A (p.Trp3469Ter) n.4336G>A c.10536G>A (p.Trp3512Ter) | |
2 | g.73572410G>C | CA347283446 | ALMS1 | c.10152G>C (p.Trp3384Cys) c.3238G>C c.7433G>C c.4599G>C (p.Trp1533Cys) c.7478G>C c.10533G>C (p.Trp3511Cys) c.687G>C (p.Trp229Cys) c.1889G>C c.1630G>C c.4024G>C (n.4024G>C) c.10407G>C (p.Trp3469Cys) n.4336G>C c.10536G>C (p.Trp3512Cys) | |
2 | g.73572410G= | CA1261021098 | ALMS1 | c.10152G= (p.Trp3384=) c.3238G= c.7433G= c.4599G= (p.Trp1533=) c.7478G= c.10533G= (p.Trp3511=) c.687G= (p.Trp229=) c.1889G= c.1630G= c.4024G= (n.4024G=) c.10407G= (p.Trp3469=) n.4336G= c.10536G= (p.Trp3512=) | |
2 | g.73572410G>T | CA1715017 | ALMS1 | c.10152G>T (p.Trp3384Cys) c.3238G>T c.7433G>T c.4599G>T (p.Trp1533Cys) c.7478G>T c.10533G>T (p.Trp3511Cys) c.687G>T (p.Trp229Cys) c.1889G>T c.1630G>T c.4024G>T (n.4024G>T) c.10407G>T (p.Trp3469Cys) n.4336G>T c.10536G>T (p.Trp3512Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572411A>C | CA347283453 | ALMS1 | c.10153A>C (p.Lys3385Gln) c.3239A>C c.7434A>C c.4600A>C (p.Lys1534Gln) c.7479A>C c.10534A>C (p.Lys3512Gln) c.688A>C (p.Lys230Gln) c.1890A>C c.1631A>C c.4025A>C (n.4025A>C) c.10408A>C (p.Lys3470Gln) n.4337A>C c.10537A>C (p.Lys3513Gln) | |
2 | g.73572411A>G | CA347283455 | ALMS1 | c.10153A>G (p.Lys3385Glu) c.3239A>G c.7434A>G c.4600A>G (p.Lys1534Glu) c.7479A>G c.10534A>G (p.Lys3512Glu) c.688A>G (p.Lys230Glu) c.1890A>G c.1631A>G c.4025A>G (n.4025A>G) c.10408A>G (p.Lys3470Glu) n.4337A>G c.10537A>G (p.Lys3513Glu) | ClinVar gnomAD v4 |
2 | g.73572411A>T | CA347283451 | ALMS1 | c.10153A>T (p.Lys3385Ter) c.3239A>T c.7434A>T c.4600A>T (p.Lys1534Ter) c.7479A>T c.10534A>T (p.Lys3512Ter) c.688A>T (p.Lys230Ter) c.1890A>T c.1631A>T c.4025A>T (n.4025A>T) c.10408A>T (p.Lys3470Ter) n.4337A>T c.10537A>T (p.Lys3513Ter) | |
2 | g.73572412A>C | CA347283458 | ALMS1 | c.10154A>C (p.Lys3385Thr) c.3240A>C c.7435A>C c.4601A>C (p.Lys1534Thr) c.7480A>C c.10535A>C (p.Lys3512Thr) c.689A>C (p.Lys230Thr) c.1891A>C c.1632A>C c.4026A>C (n.4026A>C) c.10409A>C (p.Lys3470Thr) n.4338A>C c.10538A>C (p.Lys3513Thr) | |
2 | g.73572412A>G | CA347283460 | ALMS1 | c.10154A>G (p.Lys3385Arg) c.3240A>G c.7435A>G c.4601A>G (p.Lys1534Arg) c.7480A>G c.10535A>G (p.Lys3512Arg) c.689A>G (p.Lys230Arg) c.1891A>G c.1632A>G c.4026A>G (n.4026A>G) c.10409A>G (p.Lys3470Arg) n.4338A>G c.10538A>G (p.Lys3513Arg) | |
2 | g.73572412A>T | CA347283462 | ALMS1 | c.10154A>T (p.Lys3385Ile) c.3240A>T c.7435A>T c.4601A>T (p.Lys1534Ile) c.7480A>T c.10535A>T (p.Lys3512Ile) c.689A>T (p.Lys230Ile) c.1891A>T c.1632A>T c.4026A>T (n.4026A>T) c.10409A>T (p.Lys3470Ile) n.4338A>T c.10538A>T (p.Lys3513Ile) | |
2 | g.73572413A>C | CA347283465 | ALMS1 | c.10155A>C (p.Lys3385Asn) c.3241A>C c.7436A>C c.4602A>C (p.Lys1534Asn) c.7481A>C c.10536A>C (p.Lys3512Asn) c.690A>C (p.Lys230Asn) c.1892A>C c.1633A>C c.4027A>C (n.4027A>C) c.10410A>C (p.Lys3470Asn) n.4339A>C c.10539A>C (p.Lys3513Asn) | |
2 | g.73572413A>G | CA427024649 | ALMS1 | c.10155A>G (p.Lys3385=) c.3241A>G c.7436A>G c.4602A>G (p.Lys1534=) c.7481A>G c.10536A>G (p.Lys3512=) c.690A>G (p.Lys230=) c.1892A>G c.1633A>G c.4027A>G (n.4027A>G) c.10410A>G (p.Lys3470=) n.4339A>G c.10539A>G (p.Lys3513=) | |
2 | g.73572413A>T | CA347283466 | ALMS1 | c.10155A>T (p.Lys3385Asn) c.3241A>T c.7436A>T c.4602A>T (p.Lys1534Asn) c.7481A>T c.10536A>T (p.Lys3512Asn) c.690A>T (p.Lys230Asn) c.1892A>T c.1633A>T c.4027A>T (n.4027A>T) c.10410A>T (p.Lys3470Asn) n.4339A>T c.10539A>T (p.Lys3513Asn) | |
2 | g.73572414G>A | CA347283469 | ALMS1 | c.10156G>A (p.Asp3386Asn) c.3242G>A c.7437G>A c.4603G>A (p.Asp1535Asn) c.7482G>A c.10537G>A (p.Asp3513Asn) c.691G>A (p.Asp231Asn) c.1893G>A c.1634G>A c.4028G>A (n.4028G>A) c.10411G>A (p.Asp3471Asn) n.4340G>A c.10540G>A (p.Asp3514Asn) | |
2 | g.73572414G>C | CA347283471 | ALMS1 | c.10156G>C (p.Asp3386His) c.3242G>C c.7437G>C c.4603G>C (p.Asp1535His) c.7482G>C c.10537G>C (p.Asp3513His) c.691G>C (p.Asp231His) c.1893G>C c.1634G>C c.4028G>C (n.4028G>C) c.10411G>C (p.Asp3471His) n.4340G>C c.10540G>C (p.Asp3514His) | |
2 | g.73572414G= | CA1261021107 | ALMS1 | c.10156G= (p.Asp3386=) c.3242G= c.7437G= c.4603G= (p.Asp1535=) c.7482G= c.10537G= (p.Asp3513=) c.691G= (p.Asp231=) c.1893G= c.1634G= c.4028G= (n.4028G=) c.10411G= (p.Asp3471=) n.4340G= c.10540G= (p.Asp3514=) | |
2 | g.73572414G>T | CA347283474 | ALMS1 | c.10156G>T (p.Asp3386Tyr) c.3242G>T c.7437G>T c.4603G>T (p.Asp1535Tyr) c.7482G>T c.10537G>T (p.Asp3513Tyr) c.691G>T (p.Asp231Tyr) c.1893G>T c.1634G>T c.4028G>T (n.4028G>T) c.10411G>T (p.Asp3471Tyr) n.4340G>T c.10540G>T (p.Asp3514Tyr) | ClinVar dbSNP |
2 | g.73572415A= | CA1261021116 | ALMS1 | c.10157A= (p.Asp3386=) c.3243A= c.7438A= c.4604A= (p.Asp1535=) c.7483A= c.10538A= (p.Asp3513=) c.692A= (p.Asp231=) c.1894A= c.1635A= c.4029A= (n.4029A=) c.10412A= (p.Asp3471=) n.4341A= c.10541A= (p.Asp3514=) | |
2 | g.73572415A>C | CA347283476 | ALMS1 | c.10157A>C (p.Asp3386Ala) c.3243A>C c.7438A>C c.4604A>C (p.Asp1535Ala) c.7483A>C c.10538A>C (p.Asp3513Ala) c.692A>C (p.Asp231Ala) c.1894A>C c.1635A>C c.4029A>C (n.4029A>C) c.10412A>C (p.Asp3471Ala) n.4341A>C c.10541A>C (p.Asp3514Ala) | |
2 | g.73572415A>G | CA347283479 | ALMS1 | c.10157A>G (p.Asp3386Gly) c.3243A>G c.7438A>G c.4604A>G (p.Asp1535Gly) c.7483A>G c.10538A>G (p.Asp3513Gly) c.692A>G (p.Asp231Gly) c.1894A>G c.1635A>G c.4029A>G (n.4029A>G) c.10412A>G (p.Asp3471Gly) n.4341A>G c.10541A>G (p.Asp3514Gly) | |
2 | g.73572415A>T | CA1715018 | ALMS1 | c.10157A>T (p.Asp3386Val) c.3243A>T c.7438A>T c.4604A>T (p.Asp1535Val) c.7483A>T c.10538A>T (p.Asp3513Val) c.692A>T (p.Asp231Val) c.1894A>T c.1635A>T c.4029A>T (n.4029A>T) c.10412A>T (p.Asp3471Val) n.4341A>T c.10541A>T (p.Asp3514Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572416T>A | CA347283485 | ALMS1 | c.10158T>A (p.Asp3386Glu) c.3244T>A c.7439T>A c.4605T>A (p.Asp1535Glu) c.7484T>A c.10539T>A (p.Asp3513Glu) c.693T>A (p.Asp231Glu) c.1895T>A c.1636T>A c.4030T>A (n.4030T>A) c.10413T>A (p.Asp3471Glu) n.4342T>A c.10542T>A (p.Asp3514Glu) | |
2 | g.73572416T>C | CA427024661 | ALMS1 | c.10158T>C (p.Asp3386=) c.3244T>C c.7439T>C c.4605T>C (p.Asp1535=) c.7484T>C c.10539T>C (p.Asp3513=) c.693T>C (p.Asp231=) c.1895T>C c.1636T>C c.4030T>C (n.4030T>C) c.10413T>C (p.Asp3471=) n.4342T>C c.10542T>C (p.Asp3514=) | ClinVar |
2 | g.73572416T>G | CA347283489 | ALMS1 | c.10158T>G (p.Asp3386Glu) c.3244T>G c.7439T>G c.4605T>G (p.Asp1535Glu) c.7484T>G c.10539T>G (p.Asp3513Glu) c.693T>G (p.Asp231Glu) c.1895T>G c.1636T>G c.4030T>G (n.4030T>G) c.10413T>G (p.Asp3471Glu) n.4342T>G c.10542T>G (p.Asp3514Glu) | |
2 | g.73572417T>A | CA347283500 | ALMS1 | c.10159T>A (p.Phe3387Ile) c.3245T>A c.7440T>A c.4606T>A (p.Phe1536Ile) c.7485T>A c.10540T>A (p.Phe3514Ile) c.694T>A (p.Phe232Ile) c.1896T>A c.1637T>A c.4031T>A (n.4031T>A) c.10414T>A (p.Phe3472Ile) n.4343T>A c.10543T>A (p.Phe3515Ile) | |
2 | g.73572417T>C | CA347283496 | ALMS1 | c.10159T>C (p.Phe3387Leu) c.3245T>C c.7440T>C c.4606T>C (p.Phe1536Leu) c.7485T>C c.10540T>C (p.Phe3514Leu) c.694T>C (p.Phe232Leu) c.1896T>C c.1637T>C c.4031T>C (n.4031T>C) c.10414T>C (p.Phe3472Leu) n.4343T>C c.10543T>C (p.Phe3515Leu) | |
2 | g.73572417T>G | CA347283494 | ALMS1 | c.10159T>G (p.Phe3387Val) c.3245T>G c.7440T>G c.4606T>G (p.Phe1536Val) c.7485T>G c.10540T>G (p.Phe3514Val) c.694T>G (p.Phe232Val) c.1896T>G c.1637T>G c.4031T>G (n.4031T>G) c.10414T>G (p.Phe3472Val) n.4343T>G c.10543T>G (p.Phe3515Val) | |
2 | g.73572417_73572418insCATGGCAAATA | CA2522630544 | ALMS1 | c.10159_10160insCATGGCAAATA (p.Phe3387SerfsTer?) c.3245_3246insCATGGCAAATA c.7440_7441insCATGGCAAATA c.4606_4607insCATGGCAAATA (p.Phe1536SerfsTer?) c.7485_7486insCATGGCAAATA c.10540_10541insCATGGCAAATA (p.Phe3514SerfsTer?) c.694_695insCATGGCAAATA (p.Phe232SerfsTer?) c.1896_1897insCATGGCAAATA c.1637_1638insCATGGCAAATA c.4031_4032insCATGGCAAATA (n.4031_4032insCATGGCAAATA) c.10414_10415insCATGGCAAATA (p.Phe3472SerfsTer?) n.4343_4344insCATGGCAAATA c.10543_10544insCATGGCAAATA (p.Phe3515SerfsTer?) | |
2 | g.73572418T>A | CA347283503 | ALMS1 | c.10160T>A (p.Phe3387Tyr) c.3246T>A c.7441T>A c.4607T>A (p.Phe1536Tyr) c.7486T>A c.10541T>A (p.Phe3514Tyr) c.695T>A (p.Phe232Tyr) c.1897T>A c.1638T>A c.4032T>A (n.4032T>A) c.10415T>A (p.Phe3472Tyr) n.4344T>A c.10544T>A (p.Phe3515Tyr) | |
2 | g.73572418T>C | CA347283505 | ALMS1 | c.10160T>C (p.Phe3387Ser) c.3246T>C c.7441T>C c.4607T>C (p.Phe1536Ser) c.7486T>C c.10541T>C (p.Phe3514Ser) c.695T>C (p.Phe232Ser) c.1897T>C c.1638T>C c.4032T>C (n.4032T>C) c.10415T>C (p.Phe3472Ser) n.4344T>C c.10544T>C (p.Phe3515Ser) | |
2 | g.73572418T>G | CA347283509 | ALMS1 | c.10160T>G (p.Phe3387Cys) c.3246T>G c.7441T>G c.4607T>G (p.Phe1536Cys) c.7486T>G c.10541T>G (p.Phe3514Cys) c.695T>G (p.Phe232Cys) c.1897T>G c.1638T>G c.4032T>G (n.4032T>G) c.10415T>G (p.Phe3472Cys) n.4344T>G c.10544T>G (p.Phe3515Cys) | |
2 | g.73572419C>A | CA347283512 | ALMS1 | c.10161C>A (p.Phe3387Leu) c.3247C>A c.7442C>A c.4608C>A (p.Phe1536Leu) c.7487C>A c.10542C>A (p.Phe3514Leu) c.696C>A (p.Phe232Leu) c.1898C>A c.1639C>A c.4033C>A (n.4033C>A) c.10416C>A (p.Phe3472Leu) n.4345C>A c.10545C>A (p.Phe3515Leu) | |
2 | g.73572419C>G | CA347283513 | ALMS1 | c.10161C>G (p.Phe3387Leu) c.3247C>G c.7442C>G c.4608C>G (p.Phe1536Leu) c.7487C>G c.10542C>G (p.Phe3514Leu) c.696C>G (p.Phe232Leu) c.1898C>G c.1639C>G c.4033C>G (n.4033C>G) c.10416C>G (p.Phe3472Leu) n.4345C>G c.10545C>G (p.Phe3515Leu) | gnomAD v4 |
2 | g.73572419C>T | CA427024671 | ALMS1 | c.10161C>T (p.Phe3387=) c.3247C>T c.7442C>T c.4608C>T (p.Phe1536=) c.7487C>T c.10542C>T (p.Phe3514=) c.696C>T (p.Phe232=) c.1898C>T c.1639C>T c.4033C>T (n.4033C>T) c.10416C>T (p.Phe3472=) n.4345C>T c.10545C>T (p.Phe3515=) | |
2 | g.73572420T>A | CA347283514 | ALMS1 | c.10162T>A (p.Phe3388Ile) c.3248T>A c.7443T>A c.4609T>A (p.Phe1537Ile) c.7488T>A c.10543T>A (p.Phe3515Ile) c.697T>A (p.Phe233Ile) c.1899T>A c.1640T>A c.4034T>A (n.4034T>A) c.10417T>A (p.Phe3473Ile) n.4346T>A c.10546T>A (p.Phe3516Ile) | |
2 | g.73572420T>C | CA347283515 | ALMS1 | c.10162T>C (p.Phe3388Leu) c.3248T>C c.7443T>C c.4609T>C (p.Phe1537Leu) c.7488T>C c.10543T>C (p.Phe3515Leu) c.697T>C (p.Phe233Leu) c.1899T>C c.1640T>C c.4034T>C (n.4034T>C) c.10417T>C (p.Phe3473Leu) n.4346T>C c.10546T>C (p.Phe3516Leu) | |
2 | g.73572420T>G | CA347283517 | ALMS1 | c.10162T>G (p.Phe3388Val) c.3248T>G c.7443T>G c.4609T>G (p.Phe1537Val) c.7488T>G c.10543T>G (p.Phe3515Val) c.697T>G (p.Phe233Val) c.1899T>G c.1640T>G c.4034T>G (n.4034T>G) c.10417T>G (p.Phe3473Val) n.4346T>G c.10546T>G (p.Phe3516Val) | |
2 | g.73572421T>A | CA347283520 | ALMS1 | c.10163T>A (p.Phe3388Tyr) c.3249T>A c.7444T>A c.4610T>A (p.Phe1537Tyr) c.7489T>A c.10544T>A (p.Phe3515Tyr) c.698T>A (p.Phe233Tyr) c.1900T>A c.1641T>A c.4035T>A (n.4035T>A) c.10418T>A (p.Phe3473Tyr) n.4347T>A c.10547T>A (p.Phe3516Tyr) | |
2 | g.73572421T>C | CA347283523 | ALMS1 | c.10163T>C (p.Phe3388Ser) c.3249T>C c.7444T>C c.4610T>C (p.Phe1537Ser) c.7489T>C c.10544T>C (p.Phe3515Ser) c.698T>C (p.Phe233Ser) c.1900T>C c.1641T>C c.4035T>C (n.4035T>C) c.10418T>C (p.Phe3473Ser) n.4347T>C c.10547T>C (p.Phe3516Ser) | |
2 | g.73572421T>G | CA347283526 | ALMS1 | c.10163T>G (p.Phe3388Cys) c.3249T>G c.7444T>G c.4610T>G (p.Phe1537Cys) c.7489T>G c.10544T>G (p.Phe3515Cys) c.698T>G (p.Phe233Cys) c.1900T>G c.1641T>G c.4035T>G (n.4035T>G) c.10418T>G (p.Phe3473Cys) n.4347T>G c.10547T>G (p.Phe3516Cys) | |
2 | g.73572421T= | CA1261021119 | ALMS1 | c.10163T= (p.Phe3388=) c.3249T= c.7444T= c.4610T= (p.Phe1537=) c.7489T= c.10544T= (p.Phe3515=) c.698T= (p.Phe233=) c.1900T= c.1641T= c.4035T= (n.4035T=) c.10418T= (p.Phe3473=) n.4347T= c.10547T= (p.Phe3516=) | |
2 | g.73572421_73572422insCA | CA658822830 | ALMS1 | c.10163_10164insCA (p.Gln3389IlefsTer?) c.3249_3250insCA c.7444_7445insCA c.4610_4611insCA (p.Gln1538IlefsTer?) c.7489_7490insCA c.10544_10545insCA (p.Gln3516IlefsTer?) c.698_699insCA (p.Gln234IlefsTer?) c.1900_1901insCA c.1641_1642insCA c.4035_4036insCA (n.4035_4036insCA) c.10418_10419insCA (p.Gln3474IlefsTer?) n.4347_4348insCA c.10547_10548insCA (p.Gln3517IlefsTer?) | ClinVar dbSNP |
2 | g.73572422T>A | CA1715019 | ALMS1 | c.10164T>A (p.Phe3388Leu) c.3250T>A c.7445T>A c.4611T>A (p.Phe1537Leu) c.7490T>A c.10545T>A (p.Phe3515Leu) c.699T>A (p.Phe233Leu) c.1901T>A c.1642T>A c.4036T>A (n.4036T>A) c.10419T>A (p.Phe3473Leu) n.4348T>A c.10548T>A (p.Phe3516Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572422T>C | CA427024676 | ALMS1 | c.10164T>C (p.Phe3388=) c.3250T>C c.7445T>C c.4611T>C (p.Phe1537=) c.7490T>C c.10545T>C (p.Phe3515=) c.699T>C (p.Phe233=) c.1901T>C c.1642T>C c.4036T>C (n.4036T>C) c.10419T>C (p.Phe3473=) n.4348T>C c.10548T>C (p.Phe3516=) | |
2 | g.73572422T>G | CA347283534 | ALMS1 | c.10164T>G (p.Phe3388Leu) c.3250T>G c.7445T>G c.4611T>G (p.Phe1537Leu) c.7490T>G c.10545T>G (p.Phe3515Leu) c.699T>G (p.Phe233Leu) c.1901T>G c.1642T>G c.4036T>G (n.4036T>G) c.10419T>G (p.Phe3473Leu) n.4348T>G c.10548T>G (p.Phe3516Leu) | ClinVar gnomAD v4 |
2 | g.73572422T= | CA1261021128 | ALMS1 | c.10164T= (p.Phe3388=) c.3250T= c.7445T= c.4611T= (p.Phe1537=) c.7490T= c.10545T= (p.Phe3515=) c.699T= (p.Phe233=) c.1901T= c.1642T= c.4036T= (n.4036T=) c.10419T= (p.Phe3473=) n.4348T= c.10548T= (p.Phe3516=) | |
2 | g.73572423C>A | CA347283543 | ALMS1 | c.10165C>A (p.Gln3389Lys) c.3251C>A c.7446C>A c.4612C>A (p.Gln1538Lys) c.7491C>A c.10546C>A (p.Gln3516Lys) c.700C>A (p.Gln234Lys) c.1902C>A c.1643C>A c.4037C>A (n.4037C>A) c.10420C>A (p.Gln3474Lys) n.4349C>A c.10549C>A (p.Gln3517Lys) | |
2 | g.73572423C= | CA1261021141 | ALMS1 | c.10165C= (p.Gln3389=) c.3251C= c.7446C= c.4612C= (p.Gln1538=) c.7491C= c.10546C= (p.Gln3516=) c.700C= (p.Gln234=) c.1902C= c.1643C= c.4037C= (n.4037C=) c.10420C= (p.Gln3474=) n.4349C= c.10549C= (p.Gln3517=) | |
2 | g.73572423C>G | CA1715021 | ALMS1 | c.10165C>G (p.Gln3389Glu) c.3251C>G c.7446C>G c.4612C>G (p.Gln1538Glu) c.7491C>G c.10546C>G (p.Gln3516Glu) c.700C>G (p.Gln234Glu) c.1902C>G c.1643C>G c.4037C>G (n.4037C>G) c.10420C>G (p.Gln3474Glu) n.4349C>G c.10549C>G (p.Gln3517Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572423C>T | CA1715020 | ALMS1 | c.10165C>T (p.Gln3389Ter) c.3251C>T c.7446C>T c.4612C>T (p.Gln1538Ter) c.7491C>T c.10546C>T (p.Gln3516Ter) c.700C>T (p.Gln234Ter) c.1902C>T c.1643C>T c.4037C>T (n.4037C>T) c.10420C>T (p.Gln3474Ter) n.4349C>T c.10549C>T (p.Gln3517Ter) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.73572424A= | CA1261021152 | ALMS1 | c.10166A= (p.Gln3389=) c.3252A= c.7447A= c.4613A= (p.Gln1538=) c.7492A= c.10547A= (p.Gln3516=) c.701A= (p.Gln234=) c.1903A= c.1644A= c.4038A= (n.4038A=) c.10421A= (p.Gln3474=) n.4350A= c.10550A= (p.Gln3517=) | |
2 | g.73572424A>C | CA347283556 | ALMS1 | c.10166A>C (p.Gln3389Pro) c.3252A>C c.7447A>C c.4613A>C (p.Gln1538Pro) c.7492A>C c.10547A>C (p.Gln3516Pro) c.701A>C (p.Gln234Pro) c.1903A>C c.1644A>C c.4038A>C (n.4038A>C) c.10421A>C (p.Gln3474Pro) n.4350A>C c.10550A>C (p.Gln3517Pro) | |
2 | g.73572424A>G | CA347283549 | ALMS1 | c.10166A>G (p.Gln3389Arg) c.3252A>G c.7447A>G c.4613A>G (p.Gln1538Arg) c.7492A>G c.10547A>G (p.Gln3516Arg) c.701A>G (p.Gln234Arg) c.1903A>G c.1644A>G c.4038A>G (n.4038A>G) c.10421A>G (p.Gln3474Arg) n.4350A>G c.10550A>G (p.Gln3517Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572424A>T | CA347283552 | ALMS1 | c.10166A>T (p.Gln3389Leu) c.3252A>T c.7447A>T c.4613A>T (p.Gln1538Leu) c.7492A>T c.10547A>T (p.Gln3516Leu) c.701A>T (p.Gln234Leu) c.1903A>T c.1644A>T c.4038A>T (n.4038A>T) c.10421A>T (p.Gln3474Leu) n.4350A>T c.10550A>T (p.Gln3517Leu) | |
2 | g.73572425G>A | CA427024677 | ALMS1 | c.10167G>A (p.Gln3389=) c.3253G>A c.7448G>A c.4614G>A (p.Gln1538=) c.7493G>A c.10548G>A (p.Gln3516=) c.702G>A (p.Gln234=) c.1904G>A c.1645G>A c.4039G>A (n.4039G>A) c.10422G>A (p.Gln3474=) n.4351G>A c.10551G>A (p.Gln3517=) | |
2 | g.73572425G>C | CA347283558 | ALMS1 | c.10167G>C (p.Gln3389His) c.3253G>C c.7448G>C c.4614G>C (p.Gln1538His) c.7493G>C c.10548G>C (p.Gln3516His) c.702G>C (p.Gln234His) c.1904G>C c.1645G>C c.4039G>C (n.4039G>C) c.10422G>C (p.Gln3474His) n.4351G>C c.10551G>C (p.Gln3517His) | |
2 | g.73572425G>T | CA347283561 | ALMS1 | c.10167G>T (p.Gln3389His) c.3253G>T c.7448G>T c.4614G>T (p.Gln1538His) c.7493G>T c.10548G>T (p.Gln3516His) c.702G>T (p.Gln234His) c.1904G>T c.1645G>T c.4039G>T (n.4039G>T) c.10422G>T (p.Gln3474His) n.4351G>T c.10551G>T (p.Gln3517His) | |
2 | g.73572426C>A | CA347283566 | ALMS1 | c.10168C>A (p.His3390Asn) c.3254C>A c.7449C>A c.4615C>A (p.His1539Asn) c.7494C>A c.10549C>A (p.His3517Asn) c.703C>A (p.His235Asn) c.1905C>A c.1646C>A c.4040C>A (n.4040C>A) c.10423C>A (p.His3475Asn) n.4352C>A c.10552C>A (p.His3518Asn) | |
2 | g.73572426C>G | CA347283568 | ALMS1 | c.10168C>G (p.His3390Asp) c.3254C>G c.7449C>G c.4615C>G (p.His1539Asp) c.7494C>G c.10549C>G (p.His3517Asp) c.703C>G (p.His235Asp) c.1905C>G c.1646C>G c.4040C>G (n.4040C>G) c.10423C>G (p.His3475Asp) n.4352C>G c.10552C>G (p.His3518Asp) | |
2 | g.73572426C>T | CA347283571 | ALMS1 | c.10168C>T (p.His3390Tyr) c.3254C>T c.7449C>T c.4615C>T (p.His1539Tyr) c.7494C>T c.10549C>T (p.His3517Tyr) c.703C>T (p.His235Tyr) c.1905C>T c.1646C>T c.4040C>T (n.4040C>T) c.10423C>T (p.His3475Tyr) n.4352C>T c.10552C>T (p.His3518Tyr) | |
2 | g.73572427A= | CA1261021157 | ALMS1 | c.10169A= (p.His3390=) c.3255A= c.7450A= c.4616A= (p.His1539=) c.7495A= c.10550A= (p.His3517=) c.704A= (p.His235=) c.1906A= c.1647A= c.4041A= (n.4041A=) c.10424A= (p.His3475=) n.4353A= c.10553A= (p.His3518=) | |
2 | g.73572427A>C | CA347283582 | ALMS1 | c.10169A>C (p.His3390Pro) c.3255A>C c.7450A>C c.4616A>C (p.His1539Pro) c.7495A>C c.10550A>C (p.His3517Pro) c.704A>C (p.His235Pro) c.1906A>C c.1647A>C c.4041A>C (n.4041A>C) c.10424A>C (p.His3475Pro) n.4353A>C c.10553A>C (p.His3518Pro) | |
2 | g.73572427A>G | CA1715022 | ALMS1 | c.10169A>G (p.His3390Arg) c.3255A>G c.7450A>G c.4616A>G (p.His1539Arg) c.7495A>G c.10550A>G (p.His3517Arg) c.704A>G (p.His235Arg) c.1906A>G c.1647A>G c.4041A>G (n.4041A>G) c.10424A>G (p.His3475Arg) n.4353A>G c.10553A>G (p.His3518Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572427A>T | CA347283577 | ALMS1 | c.10169A>T (p.His3390Leu) c.3255A>T c.7450A>T c.4616A>T (p.His1539Leu) c.7495A>T c.10550A>T (p.His3517Leu) c.704A>T (p.His235Leu) c.1906A>T c.1647A>T c.4041A>T (n.4041A>T) c.10424A>T (p.His3475Leu) n.4353A>T c.10553A>T (p.His3518Leu) | |
2 | g.73572428T>A | CA347283586 | ALMS1 | c.10170T>A (p.His3390Gln) c.3256T>A c.7451T>A c.4617T>A (p.His1539Gln) c.7496T>A c.10551T>A (p.His3517Gln) c.705T>A (p.His235Gln) c.1907T>A c.1648T>A c.4042T>A (n.4042T>A) c.10425T>A (p.His3475Gln) n.4354T>A c.10554T>A (p.His3518Gln) | |
2 | g.73572428T>C | CA427024679 | ALMS1 | c.10170T>C (p.His3390=) c.3256T>C c.7451T>C c.4617T>C (p.His1539=) c.7496T>C c.10551T>C (p.His3517=) c.705T>C (p.His235=) c.1907T>C c.1648T>C c.4042T>C (n.4042T>C) c.10425T>C (p.His3475=) n.4354T>C c.10554T>C (p.His3518=) | |
2 | g.73572428T>G | CA1715023 | ALMS1 | c.10170T>G (p.His3390Gln) c.3256T>G c.7451T>G c.4617T>G (p.His1539Gln) c.7496T>G c.10551T>G (p.His3517Gln) c.705T>G (p.His235Gln) c.1907T>G c.1648T>G c.4042T>G (n.4042T>G) c.10425T>G (p.His3475Gln) n.4354T>G c.10554T>G (p.His3518Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572428T= | CA1261021159 | ALMS1 | c.10170T= (p.His3390=) c.3256T= c.7451T= c.4617T= (p.His1539=) c.7496T= c.10551T= (p.His3517=) c.705T= (p.His235=) c.1907T= c.1648T= c.4042T= (n.4042T=) c.10425T= (p.His3475=) n.4354T= c.10554T= (p.His3518=) | |
2 | g.73572429C>A | CA347283596 | ALMS1 | c.10171C>A (p.His3391Asn) c.3257C>A c.7452C>A c.4618C>A (p.His1540Asn) c.7497C>A c.10552C>A (p.His3518Asn) c.706C>A (p.His236Asn) c.1908C>A c.1649C>A c.4043C>A (n.4043C>A) c.10426C>A (p.His3476Asn) n.4355C>A c.10555C>A (p.His3519Asn) | |
2 | g.73572429C>G | CA347283599 | ALMS1 | c.10171C>G (p.His3391Asp) c.3257C>G c.7452C>G c.4618C>G (p.His1540Asp) c.7497C>G c.10552C>G (p.His3518Asp) c.706C>G (p.His236Asp) c.1908C>G c.1649C>G c.4043C>G (n.4043C>G) c.10426C>G (p.His3476Asp) n.4355C>G c.10555C>G (p.His3519Asp) | |
2 | g.73572429C>T | CA347283603 | ALMS1 | c.10171C>T (p.His3391Tyr) c.3257C>T c.7452C>T c.4618C>T (p.His1540Tyr) c.7497C>T c.10552C>T (p.His3518Tyr) c.706C>T (p.His236Tyr) c.1908C>T c.1649C>T c.4043C>T (n.4043C>T) c.10426C>T (p.His3476Tyr) n.4355C>T c.10555C>T (p.His3519Tyr) | ClinVar dbSNP |
2 | g.73572430A= | CA1261021165 | ALMS1 | c.10172A= (p.His3391=) c.3258A= c.7453A= c.4619A= (p.His1540=) c.7498A= c.10553A= (p.His3518=) c.707A= (p.His236=) c.1909A= c.1650A= c.4044A= (n.4044A=) c.10427A= (p.His3476=) n.4356A= c.10556A= (p.His3519=) | |
2 | g.73572430A>C | CA347283610 | ALMS1 | c.10172A>C (p.His3391Pro) c.3258A>C c.7453A>C c.4619A>C (p.His1540Pro) c.7498A>C c.10553A>C (p.His3518Pro) c.707A>C (p.His236Pro) c.1909A>C c.1650A>C c.4044A>C (n.4044A>C) c.10427A>C (p.His3476Pro) n.4356A>C c.10556A>C (p.His3519Pro) | |
2 | g.73572430A>G | CA347283616 | ALMS1 | c.10172A>G (p.His3391Arg) c.3258A>G c.7453A>G c.4619A>G (p.His1540Arg) c.7498A>G c.10553A>G (p.His3518Arg) c.707A>G (p.His236Arg) c.1909A>G c.1650A>G c.4044A>G (n.4044A>G) c.10427A>G (p.His3476Arg) n.4356A>G c.10556A>G (p.His3519Arg) | |
2 | g.73572430A>T | CA347283613 | ALMS1 | c.10172A>T (p.His3391Leu) c.3258A>T c.7453A>T c.4619A>T (p.His1540Leu) c.7498A>T c.10553A>T (p.His3518Leu) c.707A>T (p.His236Leu) c.1909A>T c.1650A>T c.4044A>T (n.4044A>T) c.10427A>T (p.His3476Leu) n.4356A>T c.10556A>T (p.His3519Leu) | |
2 | g.73572431T>A | CA347283622 | ALMS1 | c.10173T>A (p.His3391Gln) c.3259T>A c.7454T>A c.4620T>A (p.His1540Gln) c.7499T>A c.10554T>A (p.His3518Gln) c.708T>A (p.His236Gln) c.1910T>A c.1651T>A c.4045T>A (n.4045T>A) c.10428T>A (p.His3476Gln) n.4357T>A c.10557T>A (p.His3519Gln) | |
2 | g.73572431T>C | CA50386240 | ALMS1 | c.10173T>C (p.His3391=) c.3259T>C c.7454T>C c.4620T>C (p.His1540=) c.7499T>C c.10554T>C (p.His3518=) c.708T>C (p.His236=) c.1910T>C c.1651T>C c.4045T>C (n.4045T>C) c.10428T>C (p.His3476=) n.4357T>C c.10557T>C (p.His3519=) | ClinVar dbSNP |
2 | g.73572431T>G | CA347283624 | ALMS1 | c.10173T>G (p.His3391Gln) c.3259T>G c.7454T>G c.4620T>G (p.His1540Gln) c.7499T>G c.10554T>G (p.His3518Gln) c.708T>G (p.His236Gln) c.1910T>G c.1651T>G c.4045T>G (n.4045T>G) c.10428T>G (p.His3476Gln) n.4357T>G c.10557T>G (p.His3519Gln) | |
2 | g.73572431T= | CA1261021171 | ALMS1 | c.10173T= (p.His3391=) c.3259T= c.7454T= c.4620T= (p.His1540=) c.7499T= c.10554T= (p.His3518=) c.708T= (p.His236=) c.1910T= c.1651T= c.4045T= (n.4045T=) c.10428T= (p.His3476=) n.4357T= c.10557T= (p.His3519=) | |
2 | g.73572431dup | CA1715024 | ALMS1 | c.10173dup (p.Pro3392SerfsTer5) c.3259dup c.7454dup c.4620dup (p.Pro1541SerfsTer5) c.7499dup c.10554dup (p.Pro3519SerfsTer5) c.708dup (p.Pro237SerfsTer5) c.1910dup c.1651dup c.4045dup (n.4045dup) c.10428dup (p.Pro3477SerfsTer5) n.4357dup c.10557dup (p.Pro3520SerfsTer5) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572432C>A | CA347283628 | ALMS1 | c.10174C>A (p.Pro3392Thr) c.3260C>A c.7455C>A c.4621C>A (p.Pro1541Thr) c.7500C>A c.10555C>A (p.Pro3519Thr) c.709C>A (p.Pro237Thr) c.1911C>A c.1652C>A c.4046C>A (n.4046C>A) c.10429C>A (p.Pro3477Thr) n.4358C>A c.10558C>A (p.Pro3520Thr) | |
2 | g.73572432C>G | CA347283632 | ALMS1 | c.10174C>G (p.Pro3392Ala) c.3260C>G c.7455C>G c.4621C>G (p.Pro1541Ala) c.7500C>G c.10555C>G (p.Pro3519Ala) c.709C>G (p.Pro237Ala) c.1911C>G c.1652C>G c.4046C>G (n.4046C>G) c.10429C>G (p.Pro3477Ala) n.4358C>G c.10558C>G (p.Pro3520Ala) | gnomAD v4 |
2 | g.73572432C>T | CA347283636 | ALMS1 | c.10174C>T (p.Pro3392Ser) c.3260C>T c.7455C>T c.4621C>T (p.Pro1541Ser) c.7500C>T c.10555C>T (p.Pro3519Ser) c.709C>T (p.Pro237Ser) c.1911C>T c.1652C>T c.4046C>T (n.4046C>T) c.10429C>T (p.Pro3477Ser) n.4358C>T c.10558C>T (p.Pro3520Ser) | |
2 | g.73572433C>A | CA50386241 | ALMS1 | c.10175C>A (p.Pro3392Gln) c.3261C>A c.7456C>A c.4622C>A (p.Pro1541Gln) c.7501C>A c.10556C>A (p.Pro3519Gln) c.710C>A (p.Pro237Gln) c.1912C>A c.1653C>A c.4047C>A (n.4047C>A) c.10430C>A (p.Pro3477Gln) n.4359C>A c.10559C>A (p.Pro3520Gln) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572433C= | CA1261021176 | ALMS1 | c.10175C= (p.Pro3392=) c.3261C= c.7456C= c.4622C= (p.Pro1541=) c.7501C= c.10556C= (p.Pro3519=) c.710C= (p.Pro237=) c.1912C= c.1653C= c.4047C= (n.4047C=) c.10430C= (p.Pro3477=) n.4359C= c.10559C= (p.Pro3520=) | |
2 | g.73572433C>G | CA347283644 | ALMS1 | c.10175C>G (p.Pro3392Arg) c.3261C>G c.7456C>G c.4622C>G (p.Pro1541Arg) c.7501C>G c.10556C>G (p.Pro3519Arg) c.710C>G (p.Pro237Arg) c.1912C>G c.1653C>G c.4047C>G (n.4047C>G) c.10430C>G (p.Pro3477Arg) n.4359C>G c.10559C>G (p.Pro3520Arg) | |
2 | g.73572433C>T | CA347283647 | ALMS1 | c.10175C>T (p.Pro3392Leu) c.3261C>T c.7456C>T c.4622C>T (p.Pro1541Leu) c.7501C>T c.10556C>T (p.Pro3519Leu) c.710C>T (p.Pro237Leu) c.1912C>T c.1653C>T c.4047C>T (n.4047C>T) c.10430C>T (p.Pro3477Leu) n.4359C>T c.10559C>T (p.Pro3520Leu) | |
2 | g.73572435_73572438del | CA2499216267 | ALMS1 | c.10177_10180del (p.Asp3393AsnfsTer25) c.3263_3266del c.7458_7461del c.4624_4627del (p.Asp1542AsnfsTer25) c.7503_7506del c.10558_10561del (p.Asp3520AsnfsTer25) c.712_715del (p.Asp238AsnfsTer25) c.1914_1917del c.1655_1658del c.4049_4052del (n.4049_4052del) c.10432_10435del (p.Asp3478AsnfsTer25) n.4361_4364del c.10561_10564del (p.Asp3521AsnfsTer25) | ClinVar dbSNP |
2 | g.73572434A>C | CA427024686 | ALMS1 | c.10176A>C (p.Pro3392=) c.3262A>C c.7457A>C c.4623A>C (p.Pro1541=) c.7502A>C c.10557A>C (p.Pro3519=) c.711A>C (p.Pro237=) c.1913A>C c.1654A>C c.4048A>C (n.4048A>C) c.10431A>C (p.Pro3477=) n.4360A>C c.10560A>C (p.Pro3520=) | |
2 | g.73572434A>G | CA427024687 | ALMS1 | c.10176A>G (p.Pro3392=) c.3262A>G c.7457A>G c.4623A>G (p.Pro1541=) c.7502A>G c.10557A>G (p.Pro3519=) c.711A>G (p.Pro237=) c.1913A>G c.1654A>G c.4048A>G (n.4048A>G) c.10431A>G (p.Pro3477=) n.4360A>G c.10560A>G (p.Pro3520=) | ClinVar |
2 | g.73572434A>T | CA427024688 | ALMS1 | c.10176A>T (p.Pro3392=) c.3262A>T c.7457A>T c.4623A>T (p.Pro1541=) c.7502A>T c.10557A>T (p.Pro3519=) c.711A>T (p.Pro237=) c.1913A>T c.1654A>T c.4048A>T (n.4048A>T) c.10431A>T (p.Pro3477=) n.4360A>T c.10560A>T (p.Pro3520=) | |
2 | g.73572435G>A | CA347283650 | ALMS1 | c.10177G>A (p.Asp3393Asn) c.3263G>A c.7458G>A c.4624G>A (p.Asp1542Asn) c.7503G>A c.10558G>A (p.Asp3520Asn) c.712G>A (p.Asp238Asn) c.1914G>A c.1655G>A c.4049G>A (n.4049G>A) c.10432G>A (p.Asp3478Asn) n.4361G>A c.10561G>A (p.Asp3521Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572435G>C | CA347283653 | ALMS1 | c.10177G>C (p.Asp3393His) c.3263G>C c.7458G>C c.4624G>C (p.Asp1542His) c.7503G>C c.10558G>C (p.Asp3520His) c.712G>C (p.Asp238His) c.1914G>C c.1655G>C c.4049G>C (n.4049G>C) c.10432G>C (p.Asp3478His) n.4361G>C c.10561G>C (p.Asp3521His) | ClinVar dbSNP |
2 | g.73572435G= | CA1261021178 | ALMS1 | c.10177G= (p.Asp3393=) c.3263G= c.7458G= c.4624G= (p.Asp1542=) c.7503G= c.10558G= (p.Asp3520=) c.712G= (p.Asp238=) c.1914G= c.1655G= c.4049G= (n.4049G=) c.10432G= (p.Asp3478=) n.4361G= c.10561G= (p.Asp3521=) | |
2 | g.73572435G>T | CA347283658 | ALMS1 | c.10177G>T (p.Asp3393Tyr) c.3263G>T c.7458G>T c.4624G>T (p.Asp1542Tyr) c.7503G>T c.10558G>T (p.Asp3520Tyr) c.712G>T (p.Asp238Tyr) c.1914G>T c.1655G>T c.4049G>T (n.4049G>T) c.10432G>T (p.Asp3478Tyr) n.4361G>T c.10561G>T (p.Asp3521Tyr) | |
2 | g.73572436A>C | CA347283669 | ALMS1 | c.10178A>C (p.Asp3393Ala) c.3264A>C c.7459A>C c.4625A>C (p.Asp1542Ala) c.7504A>C c.10559A>C (p.Asp3520Ala) c.713A>C (p.Asp238Ala) c.1915A>C c.1656A>C c.4050A>C (n.4050A>C) c.10433A>C (p.Asp3478Ala) n.4362A>C c.10562A>C (p.Asp3521Ala) | |
2 | g.73572436A>G | CA347283663 | ALMS1 | c.10178A>G (p.Asp3393Gly) c.3264A>G c.7459A>G c.4625A>G (p.Asp1542Gly) c.7504A>G c.10559A>G (p.Asp3520Gly) c.713A>G (p.Asp238Gly) c.1915A>G c.1656A>G c.4050A>G (n.4050A>G) c.10433A>G (p.Asp3478Gly) n.4362A>G c.10562A>G (p.Asp3521Gly) | dbSNP gnomAD v4 |
2 | g.73572436A>T | CA347283666 | ALMS1 | c.10178A>T (p.Asp3393Val) c.3264A>T c.7459A>T c.4625A>T (p.Asp1542Val) c.7504A>T c.10559A>T (p.Asp3520Val) c.713A>T (p.Asp238Val) c.1915A>T c.1656A>T c.4050A>T (n.4050A>T) c.10433A>T (p.Asp3478Val) n.4362A>T c.10562A>T (p.Asp3521Val) | |
2 | g.73572437C>A | CA347283672 | ALMS1 | c.10179C>A (p.Asp3393Glu) c.3265C>A c.7460C>A c.4626C>A (p.Asp1542Glu) c.7505C>A c.10560C>A (p.Asp3520Glu) c.714C>A (p.Asp238Glu) c.1916C>A c.1657C>A c.4051C>A (n.4051C>A) c.10434C>A (p.Asp3478Glu) n.4363C>A c.10563C>A (p.Asp3521Glu) | dbSNP |
2 | g.73572437C>G | CA347283675 | ALMS1 | c.10179C>G (p.Asp3393Glu) c.3265C>G c.7460C>G c.4626C>G (p.Asp1542Glu) c.7505C>G c.10560C>G (p.Asp3520Glu) c.714C>G (p.Asp238Glu) c.1916C>G c.1657C>G c.4051C>G (n.4051C>G) c.10434C>G (p.Asp3478Glu) n.4363C>G c.10563C>G (p.Asp3521Glu) | |
2 | g.73572437C>T | CA427024692 | ALMS1 | c.10179C>T (p.Asp3393=) c.3265C>T c.7460C>T c.4626C>T (p.Asp1542=) c.7505C>T c.10560C>T (p.Asp3520=) c.714C>T (p.Asp238=) c.1916C>T c.1657C>T c.4051C>T (n.4051C>T) c.10434C>T (p.Asp3478=) n.4363C>T c.10563C>T (p.Asp3521=) | |
2 | g.73572438A>C | CA347283679 | ALMS1 | c.10180A>C (p.Lys3394Gln) c.3266A>C c.7461A>C c.4627A>C (p.Lys1543Gln) c.7506A>C c.10561A>C (p.Lys3521Gln) c.715A>C (p.Lys239Gln) c.1917A>C c.1658A>C c.4052A>C (n.4052A>C) c.10435A>C (p.Lys3479Gln) n.4364A>C c.10564A>C (p.Lys3522Gln) | |
2 | g.73572438A>G | CA347283686 | ALMS1 | c.10180A>G (p.Lys3394Glu) c.3266A>G c.7461A>G c.4627A>G (p.Lys1543Glu) c.7506A>G c.10561A>G (p.Lys3521Glu) c.715A>G (p.Lys239Glu) c.1917A>G c.1658A>G c.4052A>G (n.4052A>G) c.10435A>G (p.Lys3479Glu) n.4364A>G c.10564A>G (p.Lys3522Glu) | |
2 | g.73572438A>T | CA347283687 | ALMS1 | c.10180A>T (p.Lys3394Ter) c.3266A>T c.7461A>T c.4627A>T (p.Lys1543Ter) c.7506A>T c.10561A>T (p.Lys3521Ter) c.715A>T (p.Lys239Ter) c.1917A>T c.1658A>T c.4052A>T (n.4052A>T) c.10435A>T (p.Lys3479Ter) n.4364A>T c.10564A>T (p.Lys3522Ter) | |
2 | g.73572439A= | CA1261021183 | ALMS1 | c.10181A= (p.Lys3394=) c.3267A= c.7462A= c.4628A= (p.Lys1543=) c.7507A= c.10562A= (p.Lys3521=) c.716A= (p.Lys239=) c.1918A= c.1659A= c.4053A= (n.4053A=) c.10436A= (p.Lys3479=) n.4365A= c.10565A= (p.Lys3522=) | |
2 | g.73572439A>C | CA347283690 | ALMS1 | c.10181A>C (p.Lys3394Thr) c.3267A>C c.7462A>C c.4628A>C (p.Lys1543Thr) c.7507A>C c.10562A>C (p.Lys3521Thr) c.716A>C (p.Lys239Thr) c.1918A>C c.1659A>C c.4053A>C (n.4053A>C) c.10436A>C (p.Lys3479Thr) n.4365A>C c.10565A>C (p.Lys3522Thr) | |
2 | g.73572439A>G | CA347283693 | ALMS1 | c.10181A>G (p.Lys3394Arg) c.3267A>G c.7462A>G c.4628A>G (p.Lys1543Arg) c.7507A>G c.10562A>G (p.Lys3521Arg) c.716A>G (p.Lys239Arg) c.1918A>G c.1659A>G c.4053A>G (n.4053A>G) c.10436A>G (p.Lys3479Arg) n.4365A>G c.10565A>G (p.Lys3522Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.73572439A>T | CA347283696 | ALMS1 | c.10181A>T (p.Lys3394Ile) c.3267A>T c.7462A>T c.4628A>T (p.Lys1543Ile) c.7507A>T c.10562A>T (p.Lys3521Ile) c.716A>T (p.Lys239Ile) c.1918A>T c.1659A>T c.4053A>T (n.4053A>T) c.10436A>T (p.Lys3479Ile) n.4365A>T c.10565A>T (p.Lys3522Ile) | |
2 | g.73572440A>C | CA347283702 | ALMS1 | c.10182A>C (p.Lys3394Asn) c.3268A>C c.7463A>C c.4629A>C (p.Lys1543Asn) c.7508A>C c.10563A>C (p.Lys3521Asn) c.717A>C (p.Lys239Asn) c.1919A>C c.1660A>C c.4054A>C (n.4054A>C) c.10437A>C (p.Lys3479Asn) n.4366A>C c.10566A>C (p.Lys3522Asn) | |
2 | g.73572440A>G | CA427024697 | ALMS1 | c.10182A>G (p.Lys3394=) c.3268A>G c.7463A>G c.4629A>G (p.Lys1543=) c.7508A>G c.10563A>G (p.Lys3521=) c.717A>G (p.Lys239=) c.1919A>G c.1660A>G c.4054A>G (n.4054A>G) c.10437A>G (p.Lys3479=) n.4366A>G c.10566A>G (p.Lys3522=) | |
2 | g.73572440A>T | CA347283705 | ALMS1 | c.10182A>T (p.Lys3394Asn) c.3268A>T c.7463A>T c.4629A>T (p.Lys1543Asn) c.7508A>T c.10563A>T (p.Lys3521Asn) c.717A>T (p.Lys239Asn) c.1919A>T c.1660A>T c.4054A>T (n.4054A>T) c.10437A>T (p.Lys3479Asn) n.4366A>T c.10566A>T (p.Lys3522Asn) | |
2 | g.73572448_73572449insCACATAGAGA | CA915944042 | ALMS1 | c.10190_10191insCACATAGAGA (p.Glu3397AspfsTer3) c.3276_3277insCACATAGAGA c.7471_7472insCACATAGAGA c.4637_4638insCACATAGAGA (p.Glu1546AspfsTer3) c.7516_7517insCACATAGAGA c.10571_10572insCACATAGAGA (p.Glu3524AspfsTer3) c.725_726insCACATAGAGA (p.Glu242AspfsTer3) c.1927_1928insCACATAGAGA c.1668_1669insCACATAGAGA c.4062_4063insCACATAGAGA (n.4062_4063insCACATAGAGA) c.10445_10446insCACATAGAGA (p.Glu3482AspfsTer3) n.4374_4375insCACATAGAGA c.10574_10575insCACATAGAGA (p.Glu3525AspfsTer3) | ClinVar dbSNP |
2 | g.73572441C>A | CA347283709 | ALMS1 | c.10183C>A (p.His3395Asn) c.3269C>A c.7464C>A c.4630C>A (p.His1544Asn) c.7509C>A c.10564C>A (p.His3522Asn) c.718C>A (p.His240Asn) c.1920C>A c.1661C>A c.4055C>A (n.4055C>A) c.10438C>A (p.His3480Asn) n.4367C>A c.10567C>A (p.His3523Asn) | |
2 | g.73572441C>G | CA347283720 | ALMS1 | c.10183C>G (p.His3395Asp) c.3269C>G c.7464C>G c.4630C>G (p.His1544Asp) c.7509C>G c.10564C>G (p.His3522Asp) c.718C>G (p.His240Asp) c.1920C>G c.1661C>G c.4055C>G (n.4055C>G) c.10438C>G (p.His3480Asp) n.4367C>G c.10567C>G (p.His3523Asp) | |
2 | g.73572441C>T | CA347283723 | ALMS1 | c.10183C>T (p.His3395Tyr) c.3269C>T c.7464C>T c.4630C>T (p.His1544Tyr) c.7509C>T c.10564C>T (p.His3522Tyr) c.718C>T (p.His240Tyr) c.1920C>T c.1661C>T c.4055C>T (n.4055C>T) c.10438C>T (p.His3480Tyr) n.4367C>T c.10567C>T (p.His3523Tyr) | |
2 | g.73572441_73572443delinsCAT | CA1261021192 | ALMS1 | c.10183_10185delinsCAT (p.His3395=) c.3269_3271delinsCAT c.7464_7466delinsCAT c.4630_4632delinsCAT (p.His1544=) c.7509_7511delinsCAT c.10564_10566delinsCAT (p.His3522=) c.718_720delinsCAT (p.His240=) c.1920_1922delinsCAT c.1661_1663delinsCAT c.4055_4057delinsCAT (n.4055_4057delinsCAT) c.10438_10440delinsCAT (p.His3480=) n.4367_4369delinsCAT c.10567_10569delinsCAT (p.His3523=) | |
2 | g.73572442A>C | CA347283727 | ALMS1 | c.10184A>C (p.His3395Pro) c.3270A>C c.7465A>C c.4631A>C (p.His1544Pro) c.7510A>C c.10565A>C (p.His3522Pro) c.719A>C (p.His240Pro) c.1921A>C c.1662A>C c.4056A>C (n.4056A>C) c.10439A>C (p.His3480Pro) n.4368A>C c.10568A>C (p.His3523Pro) | |
2 | g.73572442A>G | CA347283726 | ALMS1 | c.10184A>G (p.His3395Arg) c.3270A>G c.7465A>G c.4631A>G (p.His1544Arg) c.7510A>G c.10565A>G (p.His3522Arg) c.719A>G (p.His240Arg) c.1921A>G c.1662A>G c.4056A>G (n.4056A>G) c.10439A>G (p.His3480Arg) n.4368A>G c.10568A>G (p.His3523Arg) | ClinVar gnomAD v4 |
2 | g.73572442A>T | CA347283725 | ALMS1 | c.10184A>T (p.His3395Leu) c.3270A>T c.7465A>T c.4631A>T (p.His1544Leu) c.7510A>T c.10565A>T (p.His3522Leu) c.719A>T (p.His240Leu) c.1921A>T c.1662A>T c.4056A>T (n.4056A>T) c.10439A>T (p.His3480Leu) n.4368A>T c.10568A>T (p.His3523Leu) | |
2 | g.73572443_73572444del | CA534124643 | ALMS1 | c.10185_10186del (p.His3395GlnfsTer17) c.3271_3272del c.7466_7467del c.4632_4633del (p.His1544GlnfsTer17) c.7511_7512del c.10566_10567del (p.His3522GlnfsTer17) c.720_721del (p.His240GlnfsTer17) c.1922_1923del c.1663_1664del c.4057_4058del (n.4057_4058del) c.10440_10441del (p.His3480GlnfsTer17) n.4369_4370del c.10569_10570del (p.His3523GlnfsTer17) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572443T>A | CA347283729 | ALMS1 | c.10185T>A (p.His3395Gln) c.3271T>A c.7466T>A c.4632T>A (p.His1544Gln) c.7511T>A c.10566T>A (p.His3522Gln) c.720T>A (p.His240Gln) c.1922T>A c.1663T>A c.4057T>A (n.4057T>A) c.10440T>A (p.His3480Gln) n.4369T>A c.10569T>A (p.His3523Gln) | |
2 | g.73572443T>C | CA1715026 | ALMS1 | c.10185T>C (p.His3395=) c.3271T>C c.7466T>C c.4632T>C (p.His1544=) c.7511T>C c.10566T>C (p.His3522=) c.720T>C (p.His240=) c.1922T>C c.1663T>C c.4057T>C (n.4057T>C) c.10440T>C (p.His3480=) n.4369T>C c.10569T>C (p.His3523=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572443T>G | CA1715025 | ALMS1 | c.10185T>G (p.His3395Gln) c.3271T>G c.7466T>G c.4632T>G (p.His1544Gln) c.7511T>G c.10566T>G (p.His3522Gln) c.720T>G (p.His240Gln) c.1922T>G c.1663T>G c.4057T>G (n.4057T>G) c.10440T>G (p.His3480Gln) n.4369T>G c.10569T>G (p.His3523Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572443T= | CA1261021197 | ALMS1 | c.10185T= (p.His3395=) c.3271T= c.7466T= c.4632T= (p.His1544=) c.7511T= c.10566T= (p.His3522=) c.720T= (p.His240=) c.1922T= c.1663T= c.4057T= (n.4057T=) c.10440T= (p.His3480=) n.4369T= c.10569T= (p.His3523=) | |
2 | g.73572444A>C | CA427024704 | ALMS1 | c.10186A>C (p.Arg3396=) c.3272A>C c.7467A>C c.4633A>C (p.Arg1545=) c.7512A>C c.10567A>C (p.Arg3523=) c.721A>C (p.Arg241=) c.1923A>C c.1664A>C c.4058A>C (n.4058A>C) c.10441A>C (p.Arg3481=) n.4370A>C c.10570A>C (p.Arg3524=) | |
2 | g.73572444A>G | CA347283743 | ALMS1 | c.10186A>G (p.Arg3396Gly) c.3272A>G c.7467A>G c.4633A>G (p.Arg1545Gly) c.7512A>G c.10567A>G (p.Arg3523Gly) c.721A>G (p.Arg241Gly) c.1923A>G c.1664A>G c.4058A>G (n.4058A>G) c.10441A>G (p.Arg3481Gly) n.4370A>G c.10570A>G (p.Arg3524Gly) | gnomAD v4 |
2 | g.73572444A>T | CA347283749 | ALMS1 | c.10186A>T (p.Arg3396Ter) c.3272A>T c.7467A>T c.4633A>T (p.Arg1545Ter) c.7512A>T c.10567A>T (p.Arg3523Ter) c.721A>T (p.Arg241Ter) c.1923A>T c.1664A>T c.4058A>T (n.4058A>T) c.10441A>T (p.Arg3481Ter) n.4370A>T c.10570A>T (p.Arg3524Ter) | |
2 | g.73572447_73572448del | CA2580611329 | ALMS1 | c.10189_10190del (p.Glu3397ThrfsTer15) c.3275_3276del c.7470_7471del c.4636_4637del (p.Glu1546ThrfsTer15) c.7515_7516del c.10570_10571del (p.Glu3524ThrfsTer15) c.724_725del (p.Glu242ThrfsTer15) c.1926_1927del c.1667_1668del c.4061_4062del (n.4061_4062del) c.10444_10445del (p.Glu3482ThrfsTer15) n.4373_4374del c.10573_10574del (p.Glu3525ThrfsTer15) | ClinVar dbSNP |
2 | g.73572445G>A | CA347283752 | ALMS1 | c.10187G>A (p.Arg3396Lys) c.3273G>A c.7468G>A c.4634G>A (p.Arg1545Lys) c.7513G>A c.10568G>A (p.Arg3523Lys) c.722G>A (p.Arg241Lys) c.1924G>A c.1665G>A c.4059G>A (n.4059G>A) c.10442G>A (p.Arg3481Lys) n.4371G>A c.10571G>A (p.Arg3524Lys) | |
2 | g.73572445G>C | CA347283754 | ALMS1 | c.10187G>C (p.Arg3396Thr) c.3273G>C c.7468G>C c.4634G>C (p.Arg1545Thr) c.7513G>C c.10568G>C (p.Arg3523Thr) c.722G>C (p.Arg241Thr) c.1924G>C c.1665G>C c.4059G>C (n.4059G>C) c.10442G>C (p.Arg3481Thr) n.4371G>C c.10571G>C (p.Arg3524Thr) | |
2 | g.73572445G>T | CA347283757 | ALMS1 | c.10187G>T (p.Arg3396Ile) c.3273G>T c.7468G>T c.4634G>T (p.Arg1545Ile) c.7513G>T c.10568G>T (p.Arg3523Ile) c.722G>T (p.Arg241Ile) c.1924G>T c.1665G>T c.4059G>T (n.4059G>T) c.10442G>T (p.Arg3481Ile) n.4371G>T c.10571G>T (p.Arg3524Ile) | gnomAD v4 |
2 | g.73572446A>C | CA347283761 | ALMS1 | c.10188A>C (p.Arg3396Ser) c.3274A>C c.7469A>C c.4635A>C (p.Arg1545Ser) c.7514A>C c.10569A>C (p.Arg3523Ser) c.723A>C (p.Arg241Ser) c.1925A>C c.1666A>C c.4060A>C (n.4060A>C) c.10443A>C (p.Arg3481Ser) n.4372A>C c.10572A>C (p.Arg3524Ser) | |
2 | g.73572446A>G | CA427024706 | ALMS1 | c.10188A>G (p.Arg3396=) c.3274A>G c.7469A>G c.4635A>G (p.Arg1545=) c.7514A>G c.10569A>G (p.Arg3523=) c.723A>G (p.Arg241=) c.1925A>G c.1666A>G c.4060A>G (n.4060A>G) c.10443A>G (p.Arg3481=) n.4372A>G c.10572A>G (p.Arg3524=) | ClinVar |
2 | g.73572446A>T | CA347283764 | ALMS1 | c.10188A>T (p.Arg3396Ser) c.3274A>T c.7469A>T c.4635A>T (p.Arg1545Ser) c.7514A>T c.10569A>T (p.Arg3523Ser) c.723A>T (p.Arg241Ser) c.1925A>T c.1666A>T c.4060A>T (n.4060A>T) c.10443A>T (p.Arg3481Ser) n.4372A>T c.10572A>T (p.Arg3524Ser) | |
2 | g.73572447G>A | CA1715027 | ALMS1 | c.10189G>A (p.Glu3397Lys) c.3275G>A c.7470G>A c.4636G>A (p.Glu1546Lys) c.7515G>A c.10570G>A (p.Glu3524Lys) c.724G>A (p.Glu242Lys) c.1926G>A c.1667G>A c.4061G>A (n.4061G>A) c.10444G>A (p.Glu3482Lys) n.4373G>A c.10573G>A (p.Glu3525Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572447G>C | CA347283765 | ALMS1 | c.10189G>C (p.Glu3397Gln) c.3275G>C c.7470G>C c.4636G>C (p.Glu1546Gln) c.7515G>C c.10570G>C (p.Glu3524Gln) c.724G>C (p.Glu242Gln) c.1926G>C c.1667G>C c.4061G>C (n.4061G>C) c.10444G>C (p.Glu3482Gln) n.4373G>C c.10573G>C (p.Glu3525Gln) | |
2 | g.73572447G= | CA1261021201 | ALMS1 | c.10189G= (p.Glu3397=) c.3275G= c.7470G= c.4636G= (p.Glu1546=) c.7515G= c.10570G= (p.Glu3524=) c.724G= (p.Glu242=) c.1926G= c.1667G= c.4061G= (n.4061G=) c.10444G= (p.Glu3482=) n.4373G= c.10573G= (p.Glu3525=) | |
2 | g.73572447G>T | CA347283768 | ALMS1 | c.10189G>T (p.Glu3397Ter) c.3275G>T c.7470G>T c.4636G>T (p.Glu1546Ter) c.7515G>T c.10570G>T (p.Glu3524Ter) c.724G>T (p.Glu242Ter) c.1926G>T c.1667G>T c.4061G>T (n.4061G>T) c.10444G>T (p.Glu3482Ter) n.4373G>T c.10573G>T (p.Glu3525Ter) | |
2 | g.73572448A>C | CA347283773 | ALMS1 | c.10190A>C (p.Glu3397Ala) c.3276A>C c.7471A>C c.4637A>C (p.Glu1546Ala) c.7516A>C c.10571A>C (p.Glu3524Ala) c.725A>C (p.Glu242Ala) c.1927A>C c.1668A>C c.4062A>C (n.4062A>C) c.10445A>C (p.Glu3482Ala) n.4374A>C c.10574A>C (p.Glu3525Ala) | |
2 | g.73572448A>G | CA347283776 | ALMS1 | c.10190A>G (p.Glu3397Gly) c.3276A>G c.7471A>G c.4637A>G (p.Glu1546Gly) c.7516A>G c.10571A>G (p.Glu3524Gly) c.725A>G (p.Glu242Gly) c.1927A>G c.1668A>G c.4062A>G (n.4062A>G) c.10445A>G (p.Glu3482Gly) n.4374A>G c.10574A>G (p.Glu3525Gly) | |
2 | g.73572448A>T | CA347283771 | ALMS1 | c.10190A>T (p.Glu3397Val) c.3276A>T c.7471A>T c.4637A>T (p.Glu1546Val) c.7516A>T c.10571A>T (p.Glu3524Val) c.725A>T (p.Glu242Val) c.1927A>T c.1668A>T c.4062A>T (n.4062A>T) c.10445A>T (p.Glu3482Val) n.4374A>T c.10574A>T (p.Glu3525Val) | |
2 | g.73572449A= | CA1261021207 | ALMS1 | c.10191A= (p.Glu3397=) c.3277A= c.7472A= c.4638A= (p.Glu1546=) c.7517A= c.10572A= (p.Glu3524=) c.726A= (p.Glu242=) c.1928A= c.1669A= c.4063A= (n.4063A=) c.10446A= (p.Glu3482=) n.4375A= c.10575A= (p.Glu3525=) | |
2 | g.73572449A>C | CA347283778 | ALMS1 | c.10191A>C (p.Glu3397Asp) c.3277A>C c.7472A>C c.4638A>C (p.Glu1546Asp) c.7517A>C c.10572A>C (p.Glu3524Asp) c.726A>C (p.Glu242Asp) c.1928A>C c.1669A>C c.4063A>C (n.4063A>C) c.10446A>C (p.Glu3482Asp) n.4375A>C c.10575A>C (p.Glu3525Asp) | |
2 | g.73572449A>G | CA427024711 | ALMS1 | c.10191A>G (p.Glu3397=) c.3277A>G c.7472A>G c.4638A>G (p.Glu1546=) c.7517A>G c.10572A>G (p.Glu3524=) c.726A>G (p.Glu242=) c.1928A>G c.1669A>G c.4063A>G (n.4063A>G) c.10446A>G (p.Glu3482=) n.4375A>G c.10575A>G (p.Glu3525=) | ClinVar dbSNP gnomAD v4 |
2 | g.73572449A>T | CA347283781 | ALMS1 | c.10191A>T (p.Glu3397Asp) c.3277A>T c.7472A>T c.4638A>T (p.Glu1546Asp) c.7517A>T c.10572A>T (p.Glu3524Asp) c.726A>T (p.Glu242Asp) c.1928A>T c.1669A>T c.4063A>T (n.4063A>T) c.10446A>T (p.Glu3482Asp) n.4375A>T c.10575A>T (p.Glu3525Asp) | |
2 | g.73572450C>A | CA347283785 | ALMS1 | c.10192C>A (p.His3398Asn) c.3278C>A c.7473C>A c.4639C>A (p.His1547Asn) c.7518C>A c.10573C>A (p.His3525Asn) c.727C>A (p.His243Asn) c.1929C>A c.1670C>A c.4064C>A (n.4064C>A) c.10447C>A (p.His3483Asn) n.4376C>A c.10576C>A (p.His3526Asn) | |
2 | g.73572450C= | CA1261021208 | ALMS1 | c.10192C= (p.His3398=) c.3278C= c.7473C= c.4639C= (p.His1547=) c.7518C= c.10573C= (p.His3525=) c.727C= (p.His243=) c.1929C= c.1670C= c.4064C= (n.4064C=) c.10447C= (p.His3483=) n.4376C= c.10576C= (p.His3526=) | |
2 | g.73572450C>G | CA347283788 | ALMS1 | c.10192C>G (p.His3398Asp) c.3278C>G c.7473C>G c.4639C>G (p.His1547Asp) c.7518C>G c.10573C>G (p.His3525Asp) c.727C>G (p.His243Asp) c.1929C>G c.1670C>G c.4064C>G (n.4064C>G) c.10447C>G (p.His3483Asp) n.4376C>G c.10576C>G (p.His3526Asp) | |
2 | g.73572450C>T | CA1715028 | ALMS1 | c.10192C>T (p.His3398Tyr) c.3278C>T c.7473C>T c.4639C>T (p.His1547Tyr) c.7518C>T c.10573C>T (p.His3525Tyr) c.727C>T (p.His243Tyr) c.1929C>T c.1670C>T c.4064C>T (n.4064C>T) c.10447C>T (p.His3483Tyr) n.4376C>T c.10576C>T (p.His3526Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572451A>C | CA347283807 | ALMS1 | c.10193A>C (p.His3398Pro) c.3279A>C c.7474A>C c.4640A>C (p.His1547Pro) c.7519A>C c.10574A>C (p.His3525Pro) c.728A>C (p.His243Pro) c.1930A>C c.1671A>C c.4065A>C (n.4065A>C) c.10448A>C (p.His3483Pro) n.4377A>C c.10577A>C (p.His3526Pro) | |
2 | g.73572451A>G | CA347283809 | ALMS1 | c.10193A>G (p.His3398Arg) c.3279A>G c.7474A>G c.4640A>G (p.His1547Arg) c.7519A>G c.10574A>G (p.His3525Arg) c.728A>G (p.His243Arg) c.1930A>G c.1671A>G c.4065A>G (n.4065A>G) c.10448A>G (p.His3483Arg) n.4377A>G c.10577A>G (p.His3526Arg) | |
2 | g.73572451A>T | CA347283814 | ALMS1 | c.10193A>T (p.His3398Leu) c.3279A>T c.7474A>T c.4640A>T (p.His1547Leu) c.7519A>T c.10574A>T (p.His3525Leu) c.728A>T (p.His243Leu) c.1930A>T c.1671A>T c.4065A>T (n.4065A>T) c.10448A>T (p.His3483Leu) n.4377A>T c.10577A>T (p.His3526Leu) | |
2 | g.73572456_73572482del | CA2554183417 | ALMS1 | c.10198_10224del (p.Cys3400_Met3408del) c.3284_3310del c.7479_7505del c.4645_4671del (p.Cys1549_Met1557del) c.7524_7550del c.10579_10605del (p.Cys3527_Met3535del) c.733_759del (p.Cys245_Met253del) c.1935_1961del c.1676_1702del c.4070_4096del (n.4070_4096del) c.10453_10479del (p.Cys3485_Met3493del) n.4382_4408del c.10582_10608del (p.Cys3528_Met3536del) | |
2 | g.73572452C>A | CA347283821 | ALMS1 | c.10194C>A (p.His3398Gln) c.3280C>A c.7475C>A c.4641C>A (p.His1547Gln) c.7520C>A c.10575C>A (p.His3525Gln) c.729C>A (p.His243Gln) c.1931C>A c.1672C>A c.4066C>A (n.4066C>A) c.10449C>A (p.His3483Gln) n.4378C>A c.10578C>A (p.His3526Gln) | ClinVar dbSNP |
2 | g.73572452C= | CA1261021210 | ALMS1 | c.10194C= (p.His3398=) c.3280C= c.7475C= c.4641C= (p.His1547=) c.7520C= c.10575C= (p.His3525=) c.729C= (p.His243=) c.1931C= c.1672C= c.4066C= (n.4066C=) c.10449C= (p.His3483=) n.4378C= c.10578C= (p.His3526=) | |
2 | g.73572452C>G | CA347283823 | ALMS1 | c.10194C>G (p.His3398Gln) c.3280C>G c.7475C>G c.4641C>G (p.His1547Gln) c.7520C>G c.10575C>G (p.His3525Gln) c.729C>G (p.His243Gln) c.1931C>G c.1672C>G c.4066C>G (n.4066C>G) c.10449C>G (p.His3483Gln) n.4378C>G c.10578C>G (p.His3526Gln) | |
2 | g.73572452C>T | CA427024736 | ALMS1 | c.10194C>T (p.His3398=) c.3280C>T c.7475C>T c.4641C>T (p.His1547=) c.7520C>T c.10575C>T (p.His3525=) c.729C>T (p.His243=) c.1931C>T c.1672C>T c.4066C>T (n.4066C>T) c.10449C>T (p.His3483=) n.4378C>T c.10578C>T (p.His3526=) | |
2 | g.73572452_73572454delinsCAT | CA1261021209 | ALMS1 | c.10194_10196delinsCAT (p.His3398=) c.3280_3282delinsCAT c.7475_7477delinsCAT c.4641_4643delinsCAT (p.His1547=) c.7520_7522delinsCAT c.10575_10577delinsCAT (p.His3525=) c.729_731delinsCAT (p.His243=) c.1931_1933delinsCAT c.1672_1674delinsCAT c.4066_4068delinsCAT (n.4066_4068delinsCAT) c.10449_10451delinsCAT (p.His3483=) n.4378_4380delinsCAT c.10578_10580delinsCAT (p.His3526=) | |
2 | g.73572453A>C | CA347283830 | ALMS1 | c.10195A>C (p.Met3399Leu) c.3281A>C c.7476A>C c.4642A>C (p.Met1548Leu) c.7521A>C c.10576A>C (p.Met3526Leu) c.730A>C (p.Met244Leu) c.1932A>C c.1673A>C c.4067A>C (n.4067A>C) c.10450A>C (p.Met3484Leu) n.4379A>C c.10579A>C (p.Met3527Leu) | gnomAD v4 |
2 | g.73572453A>G | CA347283833 | ALMS1 | c.10195A>G (p.Met3399Val) c.3281A>G c.7476A>G c.4642A>G (p.Met1548Val) c.7521A>G c.10576A>G (p.Met3526Val) c.730A>G (p.Met244Val) c.1932A>G c.1673A>G c.4067A>G (n.4067A>G) c.10450A>G (p.Met3484Val) n.4379A>G c.10579A>G (p.Met3527Val) | gnomAD v4 |
2 | g.73572453A>T | CA347283843 | ALMS1 | c.10195A>T (p.Met3399Leu) c.3281A>T c.7476A>T c.4642A>T (p.Met1548Leu) c.7521A>T c.10576A>T (p.Met3526Leu) c.730A>T (p.Met244Leu) c.1932A>T c.1673A>T c.4067A>T (n.4067A>T) c.10450A>T (p.Met3484Leu) n.4379A>T c.10579A>T (p.Met3527Leu) | gnomAD v4 |
2 | g.73572453_73572454del | CA1715029 | ALMS1 | c.10195_10196del (p.Met3399ValfsTer13) c.3281_3282del c.7476_7477del c.4642_4643del (p.Met1548ValfsTer13) c.7521_7522del c.10576_10577del (p.Met3526ValfsTer13) c.730_731del (p.Met244ValfsTer13) c.1932_1933del c.1673_1674del c.4067_4068del (n.4067_4068del) c.10450_10451del (p.Met3484ValfsTer13) n.4379_4380del c.10579_10580del (p.Met3527ValfsTer13) | dbSNP ExAC gnomAD v2 |
2 | g.73572454T>A | CA347283855 | ALMS1 | c.10196T>A (p.Met3399Lys) c.3282T>A c.7477T>A c.4643T>A (p.Met1548Lys) c.7522T>A c.10577T>A (p.Met3526Lys) c.731T>A (p.Met244Lys) c.1933T>A c.1674T>A c.4068T>A (n.4068T>A) c.10451T>A (p.Met3484Lys) n.4380T>A c.10580T>A (p.Met3527Lys) | |
2 | g.73572454T>C | CA347283849 | ALMS1 | c.10196T>C (p.Met3399Thr) c.3282T>C c.7477T>C c.4643T>C (p.Met1548Thr) c.7522T>C c.10577T>C (p.Met3526Thr) c.731T>C (p.Met244Thr) c.1933T>C c.1674T>C c.4068T>C (n.4068T>C) c.10451T>C (p.Met3484Thr) n.4380T>C c.10580T>C (p.Met3527Thr) | |
2 | g.73572454T>G | CA347283852 | ALMS1 | c.10196T>G (p.Met3399Arg) c.3282T>G c.7477T>G c.4643T>G (p.Met1548Arg) c.7522T>G c.10577T>G (p.Met3526Arg) c.731T>G (p.Met244Arg) c.1933T>G c.1674T>G c.4068T>G (n.4068T>G) c.10451T>G (p.Met3484Arg) n.4380T>G c.10580T>G (p.Met3527Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572454T= | CA1261021215 | ALMS1 | c.10196T= (p.Met3399=) c.3282T= c.7477T= c.4643T= (p.Met1548=) c.7522T= c.10577T= (p.Met3526=) c.731T= (p.Met244=) c.1933T= c.1674T= c.4068T= (n.4068T=) c.10451T= (p.Met3484=) n.4380T= c.10580T= (p.Met3527=) | |
2 | g.73572455del | CA2499216269 | ALMS1 | c.10197del (p.Met3399IlefsTer20) c.3283del c.7478del c.4644del (p.Met1548IlefsTer20) c.7523del c.10578del (p.Met3526IlefsTer20) c.732del (p.Met244IlefsTer20) c.1934del c.1675del c.4069del (n.4069del) c.10452del (p.Met3484IlefsTer20) n.4381del c.10581del (p.Met3527IlefsTer20) | ClinVar dbSNP gnomAD v4 |
2 | g.73572455G>A | CA1715030 | ALMS1 | c.10197G>A (p.Met3399Ile) c.3283G>A c.7478G>A c.4644G>A (p.Met1548Ile) c.7523G>A c.10578G>A (p.Met3526Ile) c.732G>A (p.Met244Ile) c.1934G>A c.1675G>A c.4069G>A (n.4069G>A) c.10452G>A (p.Met3484Ile) n.4381G>A c.10581G>A (p.Met3527Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572455G>C | CA347283861 | ALMS1 | c.10197G>C (p.Met3399Ile) c.3283G>C c.7478G>C c.4644G>C (p.Met1548Ile) c.7523G>C c.10578G>C (p.Met3526Ile) c.732G>C (p.Met244Ile) c.1934G>C c.1675G>C c.4069G>C (n.4069G>C) c.10452G>C (p.Met3484Ile) n.4381G>C c.10581G>C (p.Met3527Ile) | ClinVar |
2 | g.73572455G= | CA1261021217 | ALMS1 | c.10197G= (p.Met3399=) c.3283G= c.7478G= c.4644G= (p.Met1548=) c.7523G= c.10578G= (p.Met3526=) c.732G= (p.Met244=) c.1934G= c.1675G= c.4069G= (n.4069G=) c.10452G= (p.Met3484=) n.4381G= c.10581G= (p.Met3527=) | |
2 | g.73572455G>T | CA347283865 | ALMS1 | c.10197G>T (p.Met3399Ile) c.3283G>T c.7478G>T c.4644G>T (p.Met1548Ile) c.7523G>T c.10578G>T (p.Met3526Ile) c.732G>T (p.Met244Ile) c.1934G>T c.1675G>T c.4069G>T (n.4069G>T) c.10452G>T (p.Met3484Ile) n.4381G>T c.10581G>T (p.Met3527Ile) | |
2 | g.73572456T>A | CA347283868 | ALMS1 | c.10198T>A (p.Cys3400Ser) c.3284T>A c.7479T>A c.4645T>A (p.Cys1549Ser) c.7524T>A c.10579T>A (p.Cys3527Ser) c.733T>A (p.Cys245Ser) c.1935T>A c.1676T>A c.4070T>A (n.4070T>A) c.10453T>A (p.Cys3485Ser) n.4382T>A c.10582T>A (p.Cys3528Ser) | |
2 | g.73572456T>C | CA347283872 | ALMS1 | c.10198T>C (p.Cys3400Arg) c.3284T>C c.7479T>C c.4645T>C (p.Cys1549Arg) c.7524T>C c.10579T>C (p.Cys3527Arg) c.733T>C (p.Cys245Arg) c.1935T>C c.1676T>C c.4070T>C (n.4070T>C) c.10453T>C (p.Cys3485Arg) n.4382T>C c.10582T>C (p.Cys3528Arg) | |
2 | g.73572456T>G | CA347283882 | ALMS1 | c.10198T>G (p.Cys3400Gly) c.3284T>G c.7479T>G c.4645T>G (p.Cys1549Gly) c.7524T>G c.10579T>G (p.Cys3527Gly) c.733T>G (p.Cys245Gly) c.1935T>G c.1676T>G c.4070T>G (n.4070T>G) c.10453T>G (p.Cys3485Gly) n.4382T>G c.10582T>G (p.Cys3528Gly) | |
2 | g.73572457G>A | CA347283887 | ALMS1 | c.10199G>A (p.Cys3400Tyr) c.3285G>A c.7480G>A c.4646G>A (p.Cys1549Tyr) c.7525G>A c.10580G>A (p.Cys3527Tyr) c.734G>A (p.Cys245Tyr) c.1936G>A c.1677G>A c.4071G>A (n.4071G>A) c.10454G>A (p.Cys3485Tyr) n.4383G>A c.10583G>A (p.Cys3528Tyr) | |
2 | g.73572457G>C | CA347283893 | ALMS1 | c.10199G>C (p.Cys3400Ser) c.3285G>C c.7480G>C c.4646G>C (p.Cys1549Ser) c.7525G>C c.10580G>C (p.Cys3527Ser) c.734G>C (p.Cys245Ser) c.1936G>C c.1677G>C c.4071G>C (n.4071G>C) c.10454G>C (p.Cys3485Ser) n.4383G>C c.10583G>C (p.Cys3528Ser) | |
2 | g.73572457G>T | CA347283896 | ALMS1 | c.10199G>T (p.Cys3400Phe) c.3285G>T c.7480G>T c.4646G>T (p.Cys1549Phe) c.7525G>T c.10580G>T (p.Cys3527Phe) c.734G>T (p.Cys245Phe) c.1936G>T c.1677G>T c.4071G>T (n.4071G>T) c.10454G>T (p.Cys3485Phe) n.4383G>T c.10583G>T (p.Cys3528Phe) | |
2 | g.73572458T>A | CA347283899 | ALMS1 | c.10200T>A (p.Cys3400Ter) c.3286T>A c.7481T>A c.4647T>A (p.Cys1549Ter) c.7526T>A c.10581T>A (p.Cys3527Ter) c.735T>A (p.Cys245Ter) c.1937T>A c.1678T>A c.4072T>A (n.4072T>A) c.10455T>A (p.Cys3485Ter) n.4384T>A c.10584T>A (p.Cys3528Ter) | |
2 | g.73572458T>C | CA427024756 | ALMS1 | c.10200T>C (p.Cys3400=) c.3286T>C c.7481T>C c.4647T>C (p.Cys1549=) c.7526T>C c.10581T>C (p.Cys3527=) c.735T>C (p.Cys245=) c.1937T>C c.1678T>C c.4072T>C (n.4072T>C) c.10455T>C (p.Cys3485=) n.4384T>C c.10584T>C (p.Cys3528=) | |
2 | g.73572458T>G | CA347283901 | ALMS1 | c.10200T>G (p.Cys3400Trp) c.3286T>G c.7481T>G c.4647T>G (p.Cys1549Trp) c.7526T>G c.10581T>G (p.Cys3527Trp) c.735T>G (p.Cys245Trp) c.1937T>G c.1678T>G c.4072T>G (n.4072T>G) c.10455T>G (p.Cys3485Trp) n.4384T>G c.10584T>G (p.Cys3528Trp) | |
2 | g.73572459C>A | CA347283916 | ALMS1 | c.10201C>A (p.Leu3401Ile) c.3287C>A c.7482C>A c.4648C>A (p.Leu1550Ile) c.7527C>A c.10582C>A (p.Leu3528Ile) c.736C>A (p.Leu246Ile) c.1938C>A c.1679C>A c.4073C>A (n.4073C>A) c.10456C>A (p.Leu3486Ile) n.4385C>A c.10585C>A (p.Leu3529Ile) | |
2 | g.73572459C>G | CA347283913 | ALMS1 | c.10201C>G (p.Leu3401Val) c.3287C>G c.7482C>G c.4648C>G (p.Leu1550Val) c.7527C>G c.10582C>G (p.Leu3528Val) c.736C>G (p.Leu246Val) c.1938C>G c.1679C>G c.4073C>G (n.4073C>G) c.10456C>G (p.Leu3486Val) n.4385C>G c.10585C>G (p.Leu3529Val) | |
2 | g.73572459C>T | CA347283910 | ALMS1 | c.10201C>T (p.Leu3401Phe) c.3287C>T c.7482C>T c.4648C>T (p.Leu1550Phe) c.7527C>T c.10582C>T (p.Leu3528Phe) c.736C>T (p.Leu246Phe) c.1938C>T c.1679C>T c.4073C>T (n.4073C>T) c.10456C>T (p.Leu3486Phe) n.4385C>T c.10585C>T (p.Leu3529Phe) | gnomAD v4 |
2 | g.73572459dup | CA2659617082 | ALMS1 | c.10201dup (p.Leu3401ProfsTer12) c.3287dup c.7482dup c.4648dup (p.Leu1550ProfsTer12) c.7527dup c.10582dup (p.Leu3528ProfsTer12) c.736dup (p.Leu246ProfsTer12) c.1938dup c.1679dup c.4073dup (n.4073dup) c.10456dup (p.Leu3486ProfsTer12) n.4385dup c.10585dup (p.Leu3529ProfsTer12) | gnomAD v4 |
2 | g.73572460T>A | CA347283919 | ALMS1 | c.10202T>A (p.Leu3401His) c.3288T>A c.7483T>A c.4649T>A (p.Leu1550His) c.7528T>A c.10583T>A (p.Leu3528His) c.737T>A (p.Leu246His) c.1939T>A c.1680T>A c.4074T>A (n.4074T>A) c.10457T>A (p.Leu3486His) n.4386T>A c.10586T>A (p.Leu3529His) | |
2 | g.73572460T>C | CA347283923 | ALMS1 | c.10202T>C (p.Leu3401Pro) c.3288T>C c.7483T>C c.4649T>C (p.Leu1550Pro) c.7528T>C c.10583T>C (p.Leu3528Pro) c.737T>C (p.Leu246Pro) c.1939T>C c.1680T>C c.4074T>C (n.4074T>C) c.10457T>C (p.Leu3486Pro) n.4386T>C c.10586T>C (p.Leu3529Pro) | |
2 | g.73572460T>G | CA347283926 | ALMS1 | c.10202T>G (p.Leu3401Arg) c.3288T>G c.7483T>G c.4649T>G (p.Leu1550Arg) c.7528T>G c.10583T>G (p.Leu3528Arg) c.737T>G (p.Leu246Arg) c.1939T>G c.1680T>G c.4074T>G (n.4074T>G) c.10457T>G (p.Leu3486Arg) n.4386T>G c.10586T>G (p.Leu3529Arg) | |
2 | g.73572461T>A | CA427024763 | ALMS1 | c.10203T>A (p.Leu3401=) c.3289T>A c.7484T>A c.4650T>A (p.Leu1550=) c.7529T>A c.10584T>A (p.Leu3528=) c.738T>A (p.Leu246=) c.1940T>A c.1681T>A c.4075T>A (n.4075T>A) c.10458T>A (p.Leu3486=) n.4387T>A c.10587T>A (p.Leu3529=) | |
2 | g.73572461T>C | CA427024765 | ALMS1 | c.10203T>C (p.Leu3401=) c.3289T>C c.7484T>C c.4650T>C (p.Leu1550=) c.7529T>C c.10584T>C (p.Leu3528=) c.738T>C (p.Leu246=) c.1940T>C c.1681T>C c.4075T>C (n.4075T>C) c.10458T>C (p.Leu3486=) n.4387T>C c.10587T>C (p.Leu3529=) | |
2 | g.73572461T>G | CA427024766 | ALMS1 | c.10203T>G (p.Leu3401=) c.3289T>G c.7484T>G c.4650T>G (p.Leu1550=) c.7529T>G c.10584T>G (p.Leu3528=) c.738T>G (p.Leu246=) c.1940T>G c.1681T>G c.4075T>G (n.4075T>G) c.10458T>G (p.Leu3486=) n.4387T>G c.10587T>G (p.Leu3529=) | |
2 | g.73572462C>A | CA347283931 | ALMS1 | c.10204C>A (p.Pro3402Thr) c.3290C>A c.7485C>A c.4651C>A (p.Pro1551Thr) c.7530C>A c.10585C>A (p.Pro3529Thr) c.739C>A (p.Pro247Thr) c.1941C>A c.1682C>A c.4076C>A (n.4076C>A) c.10459C>A (p.Pro3487Thr) n.4388C>A c.10588C>A (p.Pro3530Thr) | |
2 | g.73572462C>G | CA347283933 | ALMS1 | c.10204C>G (p.Pro3402Ala) c.3290C>G c.7485C>G c.4651C>G (p.Pro1551Ala) c.7530C>G c.10585C>G (p.Pro3529Ala) c.739C>G (p.Pro247Ala) c.1941C>G c.1682C>G c.4076C>G (n.4076C>G) c.10459C>G (p.Pro3487Ala) n.4388C>G c.10588C>G (p.Pro3530Ala) | |
2 | g.73572462C>T | CA347283936 | ALMS1 | c.10204C>T (p.Pro3402Ser) c.3290C>T c.7485C>T c.4651C>T (p.Pro1551Ser) c.7530C>T c.10585C>T (p.Pro3529Ser) c.739C>T (p.Pro247Ser) c.1941C>T c.1682C>T c.4076C>T (n.4076C>T) c.10459C>T (p.Pro3487Ser) n.4388C>T c.10588C>T (p.Pro3530Ser) | |
2 | g.73572463C>A | CA347283939 | ALMS1 | c.10205C>A (p.Pro3402His) c.3291C>A c.7486C>A c.4652C>A (p.Pro1551His) c.7531C>A c.10586C>A (p.Pro3529His) c.740C>A (p.Pro247His) c.1942C>A c.1683C>A c.4077C>A (n.4077C>A) c.10460C>A (p.Pro3487His) n.4389C>A c.10589C>A (p.Pro3530His) | |
2 | g.73572463C= | CA1261021219 | ALMS1 | c.10205C= (p.Pro3402=) c.3291C= c.7486C= c.4652C= (p.Pro1551=) c.7531C= c.10586C= (p.Pro3529=) c.740C= (p.Pro247=) c.1942C= c.1683C= c.4077C= (n.4077C=) c.10460C= (p.Pro3487=) n.4389C= c.10589C= (p.Pro3530=) | |
2 | g.73572463C>G | CA1715031 | ALMS1 | c.10205C>G (p.Pro3402Arg) c.3291C>G c.7486C>G c.4652C>G (p.Pro1551Arg) c.7531C>G c.10586C>G (p.Pro3529Arg) c.740C>G (p.Pro247Arg) c.1942C>G c.1683C>G c.4077C>G (n.4077C>G) c.10460C>G (p.Pro3487Arg) n.4389C>G c.10589C>G (p.Pro3530Arg) | dbSNP ExAC gnomAD v2 |
2 | g.73572463C>T | CA347283944 | ALMS1 | c.10205C>T (p.Pro3402Leu) c.3291C>T c.7486C>T c.4652C>T (p.Pro1551Leu) c.7531C>T c.10586C>T (p.Pro3529Leu) c.740C>T (p.Pro247Leu) c.1942C>T c.1683C>T c.4077C>T (n.4077C>T) c.10460C>T (p.Pro3487Leu) n.4389C>T c.10589C>T (p.Pro3530Leu) | dbSNP gnomAD v4 |
2 | g.73572464T>A | CA427024772 | ALMS1 | c.10206T>A (p.Pro3402=) c.3292T>A c.7487T>A c.4653T>A (p.Pro1551=) c.7532T>A c.10587T>A (p.Pro3529=) c.741T>A (p.Pro247=) c.1943T>A c.1684T>A c.4078T>A (n.4078T>A) c.10461T>A (p.Pro3487=) n.4390T>A c.10590T>A (p.Pro3530=) | |
2 | g.73572464T>C | CA427024776 | ALMS1 | c.10206T>C (p.Pro3402=) c.3292T>C c.7487T>C c.4653T>C (p.Pro1551=) c.7532T>C c.10587T>C (p.Pro3529=) c.741T>C (p.Pro247=) c.1943T>C c.1684T>C c.4078T>C (n.4078T>C) c.10461T>C (p.Pro3487=) n.4390T>C c.10590T>C (p.Pro3530=) | dbSNP |
2 | g.73572464T>G | CA427024779 | ALMS1 | c.10206T>G (p.Pro3402=) c.3292T>G c.7487T>G c.4653T>G (p.Pro1551=) c.7532T>G c.10587T>G (p.Pro3529=) c.741T>G (p.Pro247=) c.1943T>G c.1684T>G c.4078T>G (n.4078T>G) c.10461T>G (p.Pro3487=) n.4390T>G c.10590T>G (p.Pro3530=) | |
2 | g.73572464T= | CA1261021220 | ALMS1 | c.10206T= (p.Pro3402=) c.3292T= c.7487T= c.4653T= (p.Pro1551=) c.7532T= c.10587T= (p.Pro3529=) c.741T= (p.Pro247=) c.1943T= c.1684T= c.4078T= (n.4078T=) c.10461T= (p.Pro3487=) n.4390T= c.10590T= (p.Pro3530=) | |
2 | g.73572465C>A | CA347283948 | ALMS1 | c.10207C>A (p.Leu3403Ile) c.3293C>A c.7488C>A c.4654C>A (p.Leu1552Ile) c.7533C>A c.10588C>A (p.Leu3530Ile) c.742C>A (p.Leu248Ile) c.1944C>A c.1685C>A c.4079C>A (n.4079C>A) c.10462C>A (p.Leu3488Ile) n.4391C>A c.10591C>A (p.Leu3531Ile) | |
2 | g.73572465C= | CA1261021221 | ALMS1 | c.10207C= (p.Leu3403=) c.3293C= c.7488C= c.4654C= (p.Leu1552=) c.7533C= c.10588C= (p.Leu3530=) c.742C= (p.Leu248=) c.1944C= c.1685C= c.4079C= (n.4079C=) c.10462C= (p.Leu3488=) n.4391C= c.10591C= (p.Leu3531=) | |
2 | g.73572465C>G | CA347283951 | ALMS1 | c.10207C>G (p.Leu3403Val) c.3293C>G c.7488C>G c.4654C>G (p.Leu1552Val) c.7533C>G c.10588C>G (p.Leu3530Val) c.742C>G (p.Leu248Val) c.1944C>G c.1685C>G c.4079C>G (n.4079C>G) c.10462C>G (p.Leu3488Val) n.4391C>G c.10591C>G (p.Leu3531Val) | ClinVar |
2 | g.73572465C>T | CA1715032 | ALMS1 | c.10207C>T (p.Leu3403Phe) c.3293C>T c.7488C>T c.4654C>T (p.Leu1552Phe) c.7533C>T c.10588C>T (p.Leu3530Phe) c.742C>T (p.Leu248Phe) c.1944C>T c.1685C>T c.4079C>T (n.4079C>T) c.10462C>T (p.Leu3488Phe) n.4391C>T c.10591C>T (p.Leu3531Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572468_73572471del | CA2739271094 | ALMS1 | c.10210_10213del (p.Pro3404IlefsTer14) c.3296_3299del c.7491_7494del c.4657_4660del (p.Pro1553IlefsTer14) c.7536_7539del c.10591_10594del (p.Pro3531IlefsTer14) c.745_748del (p.Pro249IlefsTer14) c.1947_1950del c.1688_1691del c.4082_4085del (n.4082_4085del) c.10465_10468del (p.Pro3489IlefsTer14) n.4394_4397del c.10594_10597del (p.Pro3532IlefsTer14) | ClinVar |
2 | g.73572466T>A | CA347283963 | ALMS1 | c.10208T>A (p.Leu3403His) c.3294T>A c.7489T>A c.4655T>A (p.Leu1552His) c.7534T>A c.10589T>A (p.Leu3530His) c.743T>A (p.Leu248His) c.1945T>A c.1686T>A c.4080T>A (n.4080T>A) c.10463T>A (p.Leu3488His) n.4392T>A c.10592T>A (p.Leu3531His) | |
2 | g.73572466T>C | CA347283960 | ALMS1 | c.10208T>C (p.Leu3403Pro) c.3294T>C c.7489T>C c.4655T>C (p.Leu1552Pro) c.7534T>C c.10589T>C (p.Leu3530Pro) c.743T>C (p.Leu248Pro) c.1945T>C c.1686T>C c.4080T>C (n.4080T>C) c.10463T>C (p.Leu3488Pro) n.4392T>C c.10592T>C (p.Leu3531Pro) | |
2 | g.73572466T>G | CA347283956 | ALMS1 | c.10208T>G (p.Leu3403Arg) c.3294T>G c.7489T>G c.4655T>G (p.Leu1552Arg) c.7534T>G c.10589T>G (p.Leu3530Arg) c.743T>G (p.Leu248Arg) c.1945T>G c.1686T>G c.4080T>G (n.4080T>G) c.10463T>G (p.Leu3488Arg) n.4392T>G c.10592T>G (p.Leu3531Arg) | |
2 | g.73572467T>A | CA427024787 | ALMS1 | c.10209T>A (p.Leu3403=) c.3295T>A c.7490T>A c.4656T>A (p.Leu1552=) c.7535T>A c.10590T>A (p.Leu3530=) c.744T>A (p.Leu248=) c.1946T>A c.1687T>A c.4081T>A (n.4081T>A) c.10464T>A (p.Leu3488=) n.4393T>A c.10593T>A (p.Leu3531=) | |
2 | g.73572467T>C | CA1715033 | ALMS1 | c.10209T>C (p.Leu3403=) c.3295T>C c.7490T>C c.4656T>C (p.Leu1552=) c.7535T>C c.10590T>C (p.Leu3530=) c.744T>C (p.Leu248=) c.1946T>C c.1687T>C c.4081T>C (n.4081T>C) c.10464T>C (p.Leu3488=) n.4393T>C c.10593T>C (p.Leu3531=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572467T>G | CA427024788 | ALMS1 | c.10209T>G (p.Leu3403=) c.3295T>G c.7490T>G c.4656T>G (p.Leu1552=) c.7535T>G c.10590T>G (p.Leu3530=) c.744T>G (p.Leu248=) c.1946T>G c.1687T>G c.4081T>G (n.4081T>G) c.10464T>G (p.Leu3488=) n.4393T>G c.10593T>G (p.Leu3531=) | gnomAD v4 |
2 | g.73572467T= | CA1261021224 | ALMS1 | c.10209T= (p.Leu3403=) c.3295T= c.7490T= c.4656T= (p.Leu1552=) c.7535T= c.10590T= (p.Leu3530=) c.744T= (p.Leu248=) c.1946T= c.1687T= c.4081T= (n.4081T=) c.10464T= (p.Leu3488=) n.4393T= c.10593T= (p.Leu3531=) | |
2 | g.73572468C>A | CA347283972 | ALMS1 | c.10210C>A (p.Pro3404Thr) c.3296C>A c.7491C>A c.4657C>A (p.Pro1553Thr) c.7536C>A c.10591C>A (p.Pro3531Thr) c.745C>A (p.Pro249Thr) c.1947C>A c.1688C>A c.4082C>A (n.4082C>A) c.10465C>A (p.Pro3489Thr) n.4394C>A c.10594C>A (p.Pro3532Thr) | |
2 | g.73572468C= | CA1261021228 | ALMS1 | c.10210C= (p.Pro3404=) c.3296C= c.7491C= c.4657C= (p.Pro1553=) c.7536C= c.10591C= (p.Pro3531=) c.745C= (p.Pro249=) c.1947C= c.1688C= c.4082C= (n.4082C=) c.10465C= (p.Pro3489=) n.4394C= c.10594C= (p.Pro3532=) | |
2 | g.73572468C>G | CA347283975 | ALMS1 | c.10210C>G (p.Pro3404Ala) c.3296C>G c.7491C>G c.4657C>G (p.Pro1553Ala) c.7536C>G c.10591C>G (p.Pro3531Ala) c.745C>G (p.Pro249Ala) c.1947C>G c.1688C>G c.4082C>G (n.4082C>G) c.10465C>G (p.Pro3489Ala) n.4394C>G c.10594C>G (p.Pro3532Ala) | |
2 | g.73572468C>T | CA347283978 | ALMS1 | c.10210C>T (p.Pro3404Ser) c.3296C>T c.7491C>T c.4657C>T (p.Pro1553Ser) c.7536C>T c.10591C>T (p.Pro3531Ser) c.745C>T (p.Pro249Ser) c.1947C>T c.1688C>T c.4082C>T (n.4082C>T) c.10465C>T (p.Pro3489Ser) n.4394C>T c.10594C>T (p.Pro3532Ser) | dbSNP |
2 | g.73572469C>A | CA347283982 | ALMS1 | c.10211C>A (p.Pro3404His) c.3297C>A c.7492C>A c.4658C>A (p.Pro1553His) c.7537C>A c.10592C>A (p.Pro3531His) c.746C>A (p.Pro249His) c.1948C>A c.1689C>A c.4083C>A (n.4083C>A) c.10466C>A (p.Pro3489His) n.4395C>A c.10595C>A (p.Pro3532His) | |
2 | g.73572469C>G | CA347283983 | ALMS1 | c.10211C>G (p.Pro3404Arg) c.3297C>G c.7492C>G c.4658C>G (p.Pro1553Arg) c.7537C>G c.10592C>G (p.Pro3531Arg) c.746C>G (p.Pro249Arg) c.1948C>G c.1689C>G c.4083C>G (n.4083C>G) c.10466C>G (p.Pro3489Arg) n.4395C>G c.10595C>G (p.Pro3532Arg) | ClinVar dbSNP |
2 | g.73572469C>T | CA347283988 | ALMS1 | c.10211C>T (p.Pro3404Leu) c.3297C>T c.7492C>T c.4658C>T (p.Pro1553Leu) c.7537C>T c.10592C>T (p.Pro3531Leu) c.746C>T (p.Pro249Leu) c.1948C>T c.1689C>T c.4083C>T (n.4083C>T) c.10466C>T (p.Pro3489Leu) n.4395C>T c.10595C>T (p.Pro3532Leu) | |
2 | g.73572470T>A | CA427024796 | ALMS1 | c.10212T>A (p.Pro3404=) c.3298T>A c.7493T>A c.4659T>A (p.Pro1553=) c.7538T>A c.10593T>A (p.Pro3531=) c.747T>A (p.Pro249=) c.1949T>A c.1690T>A c.4084T>A (n.4084T>A) c.10467T>A (p.Pro3489=) n.4396T>A c.10596T>A (p.Pro3532=) | |
2 | g.73572470T>C | CA427024799 | ALMS1 | c.10212T>C (p.Pro3404=) c.3298T>C c.7493T>C c.4659T>C (p.Pro1553=) c.7538T>C c.10593T>C (p.Pro3531=) c.747T>C (p.Pro249=) c.1949T>C c.1690T>C c.4084T>C (n.4084T>C) c.10467T>C (p.Pro3489=) n.4396T>C c.10596T>C (p.Pro3532=) | |
2 | g.73572470T>G | CA427024801 | ALMS1 | c.10212T>G (p.Pro3404=) c.3298T>G c.7493T>G c.4659T>G (p.Pro1553=) c.7538T>G c.10593T>G (p.Pro3531=) c.747T>G (p.Pro249=) c.1949T>G c.1690T>G c.4084T>G (n.4084T>G) c.10467T>G (p.Pro3489=) n.4396T>G c.10596T>G (p.Pro3532=) | |
2 | g.73572471T>A | CA347283989 | ALMS1 | c.10213T>A (p.Tyr3405Asn) c.3299T>A c.7494T>A c.4660T>A (p.Tyr1554Asn) c.7539T>A c.10594T>A (p.Tyr3532Asn) c.748T>A (p.Tyr250Asn) c.1950T>A c.1691T>A c.4085T>A (n.4085T>A) c.10468T>A (p.Tyr3490Asn) n.4397T>A c.10597T>A (p.Tyr3533Asn) | dbSNP |
2 | g.73572471T>C | CA347283990 | ALMS1 | c.10213T>C (p.Tyr3405His) c.3299T>C c.7494T>C c.4660T>C (p.Tyr1554His) c.7539T>C c.10594T>C (p.Tyr3532His) c.748T>C (p.Tyr250His) c.1950T>C c.1691T>C c.4085T>C (n.4085T>C) c.10468T>C (p.Tyr3490His) n.4397T>C c.10597T>C (p.Tyr3533His) | |
2 | g.73572471T>G | CA347283992 | ALMS1 | c.10213T>G (p.Tyr3405Asp) c.3299T>G c.7494T>G c.4660T>G (p.Tyr1554Asp) c.7539T>G c.10594T>G (p.Tyr3532Asp) c.748T>G (p.Tyr250Asp) c.1950T>G c.1691T>G c.4085T>G (n.4085T>G) c.10468T>G (p.Tyr3490Asp) n.4397T>G c.10597T>G (p.Tyr3533Asp) | |
2 | g.73572471T= | CA1261021229 | ALMS1 | c.10213T= (p.Tyr3405=) c.3299T= c.7494T= c.4660T= (p.Tyr1554=) c.7539T= c.10594T= (p.Tyr3532=) c.748T= (p.Tyr250=) c.1950T= c.1691T= c.4085T= (n.4085T=) c.10468T= (p.Tyr3490=) n.4397T= c.10597T= (p.Tyr3533=) | |
2 | g.73572472A>C | CA347283995 | ALMS1 | c.10214A>C (p.Tyr3405Ser) c.3300A>C c.7495A>C c.4661A>C (p.Tyr1554Ser) c.7540A>C c.10595A>C (p.Tyr3532Ser) c.749A>C (p.Tyr250Ser) c.1951A>C c.1692A>C c.4086A>C (n.4086A>C) c.10469A>C (p.Tyr3490Ser) n.4398A>C c.10598A>C (p.Tyr3533Ser) | |
2 | g.73572472A>G | CA347283998 | ALMS1 | c.10214A>G (p.Tyr3405Cys) c.3300A>G c.7495A>G c.4661A>G (p.Tyr1554Cys) c.7540A>G c.10595A>G (p.Tyr3532Cys) c.749A>G (p.Tyr250Cys) c.1951A>G c.1692A>G c.4086A>G (n.4086A>G) c.10469A>G (p.Tyr3490Cys) n.4398A>G c.10598A>G (p.Tyr3533Cys) | gnomAD v4 |
2 | g.73572472A>T | CA347284001 | ALMS1 | c.10214A>T (p.Tyr3405Phe) c.3300A>T c.7495A>T c.4661A>T (p.Tyr1554Phe) c.7540A>T c.10595A>T (p.Tyr3532Phe) c.749A>T (p.Tyr250Phe) c.1951A>T c.1692A>T c.4086A>T (n.4086A>T) c.10469A>T (p.Tyr3490Phe) n.4398A>T c.10598A>T (p.Tyr3533Phe) | |
2 | g.73572473T>A | CA347284011 | ALMS1 | c.10215T>A (p.Tyr3405Ter) c.3301T>A c.7496T>A c.4662T>A (p.Tyr1554Ter) c.7541T>A c.10596T>A (p.Tyr3532Ter) c.750T>A (p.Tyr250Ter) c.1952T>A c.1693T>A c.4087T>A (n.4087T>A) c.10470T>A (p.Tyr3490Ter) n.4399T>A c.10599T>A (p.Tyr3533Ter) | gnomAD v4 |
2 | g.73572473T>C | CA427024807 | ALMS1 | c.10215T>C (p.Tyr3405=) c.3301T>C c.7496T>C c.4662T>C (p.Tyr1554=) c.7541T>C c.10596T>C (p.Tyr3532=) c.750T>C (p.Tyr250=) c.1952T>C c.1693T>C c.4087T>C (n.4087T>C) c.10470T>C (p.Tyr3490=) n.4399T>C c.10599T>C (p.Tyr3533=) | |
2 | g.73572473T>G | CA347284007 | ALMS1 | c.10215T>G (p.Tyr3405Ter) c.3301T>G c.7496T>G c.4662T>G (p.Tyr1554Ter) c.7541T>G c.10596T>G (p.Tyr3532Ter) c.750T>G (p.Tyr250Ter) c.1952T>G c.1693T>G c.4087T>G (n.4087T>G) c.10470T>G (p.Tyr3490Ter) n.4399T>G c.10599T>G (p.Tyr3533Ter) | |
2 | g.73572474C>A | CA347284015 | ALMS1 | c.10216C>A (p.Gln3406Lys) c.3302C>A c.7497C>A c.4663C>A (p.Gln1555Lys) c.7542C>A c.10597C>A (p.Gln3533Lys) c.751C>A (p.Gln251Lys) c.1953C>A c.1694C>A c.4088C>A (n.4088C>A) c.10471C>A (p.Gln3491Lys) n.4400C>A c.10600C>A (p.Gln3534Lys) | |
2 | g.73572474C>G | CA347284018 | ALMS1 | c.10216C>G (p.Gln3406Glu) c.3302C>G c.7497C>G c.4663C>G (p.Gln1555Glu) c.7542C>G c.10597C>G (p.Gln3533Glu) c.751C>G (p.Gln251Glu) c.1953C>G c.1694C>G c.4088C>G (n.4088C>G) c.10471C>G (p.Gln3491Glu) n.4400C>G c.10600C>G (p.Gln3534Glu) | |
2 | g.73572474C>T | CA347284017 | ALMS1 | c.10216C>T (p.Gln3406Ter) c.3302C>T c.7497C>T c.4663C>T (p.Gln1555Ter) c.7542C>T c.10597C>T (p.Gln3533Ter) c.751C>T (p.Gln251Ter) c.1953C>T c.1694C>T c.4088C>T (n.4088C>T) c.10471C>T (p.Gln3491Ter) n.4400C>T c.10600C>T (p.Gln3534Ter) | |
2 | g.73572475A= | CA1261021230 | ALMS1 | c.10217A= (p.Gln3406=) c.3303A= c.7498A= c.4664A= (p.Gln1555=) c.7543A= c.10598A= (p.Gln3533=) c.752A= (p.Gln251=) c.1954A= c.1695A= c.4089A= (n.4089A=) c.10472A= (p.Gln3491=) n.4401A= c.10601A= (p.Gln3534=) | |
2 | g.73572475A>C | CA347284025 | ALMS1 | c.10217A>C (p.Gln3406Pro) c.3303A>C c.7498A>C c.4664A>C (p.Gln1555Pro) c.7543A>C c.10598A>C (p.Gln3533Pro) c.752A>C (p.Gln251Pro) c.1954A>C c.1695A>C c.4089A>C (n.4089A>C) c.10472A>C (p.Gln3491Pro) n.4401A>C c.10601A>C (p.Gln3534Pro) | |
2 | g.73572475A>G | CA347284032 | ALMS1 | c.10217A>G (p.Gln3406Arg) c.3303A>G c.7498A>G c.4664A>G (p.Gln1555Arg) c.7543A>G c.10598A>G (p.Gln3533Arg) c.752A>G (p.Gln251Arg) c.1954A>G c.1695A>G c.4089A>G (n.4089A>G) c.10472A>G (p.Gln3491Arg) n.4401A>G c.10601A>G (p.Gln3534Arg) | dbSNP |
2 | g.73572475A>T | CA347284028 | ALMS1 | c.10217A>T (p.Gln3406Leu) c.3303A>T c.7498A>T c.4664A>T (p.Gln1555Leu) c.7543A>T c.10598A>T (p.Gln3533Leu) c.752A>T (p.Gln251Leu) c.1954A>T c.1695A>T c.4089A>T (n.4089A>T) c.10472A>T (p.Gln3491Leu) n.4401A>T c.10601A>T (p.Gln3534Leu) | |
2 | g.73572476A>C | CA347284039 | ALMS1 | c.10218A>C (p.Gln3406His) c.3304A>C c.7499A>C c.4665A>C (p.Gln1555His) c.7544A>C c.10599A>C (p.Gln3533His) c.753A>C (p.Gln251His) c.1955A>C c.1696A>C c.4090A>C (n.4090A>C) c.10473A>C (p.Gln3491His) n.4402A>C c.10602A>C (p.Gln3534His) | |
2 | g.73572476A>G | CA427024817 | ALMS1 | c.10218A>G (p.Gln3406=) c.3304A>G c.7499A>G c.4665A>G (p.Gln1555=) c.7544A>G c.10599A>G (p.Gln3533=) c.753A>G (p.Gln251=) c.1955A>G c.1696A>G c.4090A>G (n.4090A>G) c.10473A>G (p.Gln3491=) n.4402A>G c.10602A>G (p.Gln3534=) | |
2 | g.73572476A>T | CA347284041 | ALMS1 | c.10218A>T (p.Gln3406His) c.3304A>T c.7499A>T c.4665A>T (p.Gln1555His) c.7544A>T c.10599A>T (p.Gln3533His) c.753A>T (p.Gln251His) c.1955A>T c.1696A>T c.4090A>T (n.4090A>T) c.10473A>T (p.Gln3491His) n.4402A>T c.10602A>T (p.Gln3534His) | |
2 | g.73572481_73572546del | CA2659617091 | ALMS1 | c.10223_10288del (p.Met3408_Asn3429del) c.3309_3374del c.7504_7569del c.4670_4735del (p.Met1557_Asn1578del) c.7549_7614del c.10604_10669del (p.Met3535_Asn3556del) c.758_823del (p.Met253_Asn274del) c.1960_2025del c.1701_1766del c.4095_4160del (n.4095_4160del) c.10478_10543del (p.Met3493_Asn3514del) n.4407_4472del c.10607_10672del (p.Met3536_Asn3557del) | gnomAD v4 |
2 | g.73572477A>C | CA347284042 | ALMS1 | c.10219A>C (p.Asn3407His) c.3305A>C c.7500A>C c.4666A>C (p.Asn1556His) c.7545A>C c.10600A>C (p.Asn3534His) c.754A>C (p.Asn252His) c.1956A>C c.1697A>C c.4091A>C (n.4091A>C) c.10474A>C (p.Asn3492His) n.4403A>C c.10603A>C (p.Asn3535His) | |
2 | g.73572477A>G | CA347284044 | ALMS1 | c.10219A>G (p.Asn3407Asp) c.3305A>G c.7500A>G c.4666A>G (p.Asn1556Asp) c.7545A>G c.10600A>G (p.Asn3534Asp) c.754A>G (p.Asn252Asp) c.1956A>G c.1697A>G c.4091A>G (n.4091A>G) c.10474A>G (p.Asn3492Asp) n.4403A>G c.10603A>G (p.Asn3535Asp) | |
2 | g.73572477A>T | CA347284045 | ALMS1 | c.10219A>T (p.Asn3407Tyr) c.3305A>T c.7500A>T c.4666A>T (p.Asn1556Tyr) c.7545A>T c.10600A>T (p.Asn3534Tyr) c.754A>T (p.Asn252Tyr) c.1956A>T c.1697A>T c.4091A>T (n.4091A>T) c.10474A>T (p.Asn3492Tyr) n.4403A>T c.10603A>T (p.Asn3535Tyr) | |
2 | g.73572478A>C | CA347284048 | ALMS1 | c.10220A>C (p.Asn3407Thr) c.3306A>C c.7501A>C c.4667A>C (p.Asn1556Thr) c.7546A>C c.10601A>C (p.Asn3534Thr) c.755A>C (p.Asn252Thr) c.1957A>C c.1698A>C c.4092A>C (n.4092A>C) c.10475A>C (p.Asn3492Thr) n.4404A>C c.10604A>C (p.Asn3535Thr) | |
2 | g.73572478A>G | CA347284052 | ALMS1 | c.10220A>G (p.Asn3407Ser) c.3306A>G c.7501A>G c.4667A>G (p.Asn1556Ser) c.7546A>G c.10601A>G (p.Asn3534Ser) c.755A>G (p.Asn252Ser) c.1957A>G c.1698A>G c.4092A>G (n.4092A>G) c.10475A>G (p.Asn3492Ser) n.4404A>G c.10604A>G (p.Asn3535Ser) | |
2 | g.73572478A>T | CA347284055 | ALMS1 | c.10220A>T (p.Asn3407Ile) c.3306A>T c.7501A>T c.4667A>T (p.Asn1556Ile) c.7546A>T c.10601A>T (p.Asn3534Ile) c.755A>T (p.Asn252Ile) c.1957A>T c.1698A>T c.4092A>T (n.4092A>T) c.10475A>T (p.Asn3492Ile) n.4404A>T c.10604A>T (p.Asn3535Ile) | |
2 | g.73572479C>A | CA347284059 | ALMS1 | c.10221C>A (p.Asn3407Lys) c.3307C>A c.7502C>A c.4668C>A (p.Asn1556Lys) c.7547C>A c.10602C>A (p.Asn3534Lys) c.756C>A (p.Asn252Lys) c.1958C>A c.1699C>A c.4093C>A (n.4093C>A) c.10476C>A (p.Asn3492Lys) n.4405C>A c.10605C>A (p.Asn3535Lys) | |
2 | g.73572479C>G | CA347284062 | ALMS1 | c.10221C>G (p.Asn3407Lys) c.3307C>G c.7502C>G c.4668C>G (p.Asn1556Lys) c.7547C>G c.10602C>G (p.Asn3534Lys) c.756C>G (p.Asn252Lys) c.1958C>G c.1699C>G c.4093C>G (n.4093C>G) c.10476C>G (p.Asn3492Lys) n.4405C>G c.10605C>G (p.Asn3535Lys) | gnomAD v4 |
2 | g.73572479C>T | CA427024822 | ALMS1 | c.10221C>T (p.Asn3407=) c.3307C>T c.7502C>T c.4668C>T (p.Asn1556=) c.7547C>T c.10602C>T (p.Asn3534=) c.756C>T (p.Asn252=) c.1958C>T c.1699C>T c.4093C>T (n.4093C>T) c.10476C>T (p.Asn3492=) n.4405C>T c.10605C>T (p.Asn3535=) | ClinVar gnomAD v4 |
2 | g.73572480A= | CA1261021231 | ALMS1 | c.10222A= (p.Met3408=) c.3308A= c.7503A= c.4669A= (p.Met1557=) c.7548A= c.10603A= (p.Met3535=) c.757A= (p.Met253=) c.1959A= c.1700A= c.4094A= (n.4094A=) c.10477A= (p.Met3493=) n.4406A= c.10606A= (p.Met3536=) | |
2 | g.73572480A>C | CA347284074 | ALMS1 | c.10222A>C (p.Met3408Leu) c.3308A>C c.7503A>C c.4669A>C (p.Met1557Leu) c.7548A>C c.10603A>C (p.Met3535Leu) c.757A>C (p.Met253Leu) c.1959A>C c.1700A>C c.4094A>C (n.4094A>C) c.10477A>C (p.Met3493Leu) n.4406A>C c.10606A>C (p.Met3536Leu) | |
2 | g.73572480A>G | CA347284071 | ALMS1 | c.10222A>G (p.Met3408Val) c.3308A>G c.7503A>G c.4669A>G (p.Met1557Val) c.7548A>G c.10603A>G (p.Met3535Val) c.757A>G (p.Met253Val) c.1959A>G c.1700A>G c.4094A>G (n.4094A>G) c.10477A>G (p.Met3493Val) n.4406A>G c.10606A>G (p.Met3536Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572480A>T | CA1715034 | ALMS1 | c.10222A>T (p.Met3408Leu) c.3308A>T c.7503A>T c.4669A>T (p.Met1557Leu) c.7548A>T c.10603A>T (p.Met3535Leu) c.757A>T (p.Met253Leu) c.1959A>T c.1700A>T c.4094A>T (n.4094A>T) c.10477A>T (p.Met3493Leu) n.4406A>T c.10606A>T (p.Met3536Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572481T>A | CA347284085 | ALMS1 | c.10223T>A (p.Met3408Lys) c.3309T>A c.7504T>A c.4670T>A (p.Met1557Lys) c.7549T>A c.10604T>A (p.Met3535Lys) c.758T>A (p.Met253Lys) c.1960T>A c.1701T>A c.4095T>A (n.4095T>A) c.10478T>A (p.Met3493Lys) n.4407T>A c.10607T>A (p.Met3536Lys) | |
2 | g.73572481T>C | CA347284087 | ALMS1 | c.10223T>C (p.Met3408Thr) c.3309T>C c.7504T>C c.4670T>C (p.Met1557Thr) c.7549T>C c.10604T>C (p.Met3535Thr) c.758T>C (p.Met253Thr) c.1960T>C c.1701T>C c.4095T>C (n.4095T>C) c.10478T>C (p.Met3493Thr) n.4407T>C c.10607T>C (p.Met3536Thr) | gnomAD v4 |
2 | g.73572481T>G | CA347284089 | ALMS1 | c.10223T>G (p.Met3408Arg) c.3309T>G c.7504T>G c.4670T>G (p.Met1557Arg) c.7549T>G c.10604T>G (p.Met3535Arg) c.758T>G (p.Met253Arg) c.1960T>G c.1701T>G c.4095T>G (n.4095T>G) c.10478T>G (p.Met3493Arg) n.4407T>G c.10607T>G (p.Met3536Arg) | |
2 | g.73572482G>A | CA347284093 | ALMS1 | c.10224G>A (p.Met3408Ile) c.3310G>A c.7505G>A c.4671G>A (p.Met1557Ile) c.7550G>A c.10605G>A (p.Met3535Ile) c.759G>A (p.Met253Ile) c.1961G>A c.1702G>A c.4096G>A (n.4096G>A) c.10479G>A (p.Met3493Ile) n.4408G>A c.10608G>A (p.Met3536Ile) | ClinVar |
2 | g.73572482G>C | CA347284096 | ALMS1 | c.10224G>C (p.Met3408Ile) c.3310G>C c.7505G>C c.4671G>C (p.Met1557Ile) c.7550G>C c.10605G>C (p.Met3535Ile) c.759G>C (p.Met253Ile) c.1961G>C c.1702G>C c.4096G>C (n.4096G>C) c.10479G>C (p.Met3493Ile) n.4408G>C c.10608G>C (p.Met3536Ile) | |
2 | g.73572482G>T | CA347284099 | ALMS1 | c.10224G>T (p.Met3408Ile) c.3310G>T c.7505G>T c.4671G>T (p.Met1557Ile) c.7550G>T c.10605G>T (p.Met3535Ile) c.759G>T (p.Met253Ile) c.1961G>T c.1702G>T c.4096G>T (n.4096G>T) c.10479G>T (p.Met3493Ile) n.4408G>T c.10608G>T (p.Met3536Ile) | |
2 | g.73572483del | CA2659617096 | ALMS1 | c.10225del (p.Asp3409ThrfsTer10) c.3311del c.7506del c.4672del (p.Asp1558ThrfsTer10) c.7551del c.10606del (p.Asp3536ThrfsTer10) c.760del (p.Asp254ThrfsTer10) c.1962del c.1703del c.4097del (n.4097del) c.10480del (p.Asp3494ThrfsTer10) n.4409del c.10609del (p.Asp3537ThrfsTer10) | gnomAD v4 |
2 | g.73572483G>A | CA347284102 | ALMS1 | c.10225G>A (p.Asp3409Asn) c.3311G>A c.7506G>A c.4672G>A (p.Asp1558Asn) c.7551G>A c.10606G>A (p.Asp3536Asn) c.760G>A (p.Asp254Asn) c.1962G>A c.1703G>A c.4097G>A (n.4097G>A) c.10480G>A (p.Asp3494Asn) n.4409G>A c.10609G>A (p.Asp3537Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572483G>C | CA347284103 | ALMS1 | c.10225G>C (p.Asp3409His) c.3311G>C c.7506G>C c.4672G>C (p.Asp1558His) c.7551G>C c.10606G>C (p.Asp3536His) c.760G>C (p.Asp254His) c.1962G>C c.1703G>C c.4097G>C (n.4097G>C) c.10480G>C (p.Asp3494His) n.4409G>C c.10609G>C (p.Asp3537His) | |
2 | g.73572483G= | CA1261021232 | ALMS1 | c.10225G= (p.Asp3409=) c.3311G= c.7506G= c.4672G= (p.Asp1558=) c.7551G= c.10606G= (p.Asp3536=) c.760G= (p.Asp254=) c.1962G= c.1703G= c.4097G= (n.4097G=) c.10480G= (p.Asp3494=) n.4409G= c.10609G= (p.Asp3537=) | |
2 | g.73572483G>T | CA347284107 | ALMS1 | c.10225G>T (p.Asp3409Tyr) c.3311G>T c.7506G>T c.4672G>T (p.Asp1558Tyr) c.7551G>T c.10606G>T (p.Asp3536Tyr) c.760G>T (p.Asp254Tyr) c.1962G>T c.1703G>T c.4097G>T (n.4097G>T) c.10480G>T (p.Asp3494Tyr) n.4409G>T c.10609G>T (p.Asp3537Tyr) | gnomAD v4 |
2 | g.73572483_73572484delinsT | CA2586964941 | ALMS1 | c.10225_10226delinsT (p.Asp3409SerfsTer10) c.3311_3312delinsT c.7506_7507delinsT c.4672_4673delinsT (p.Asp1558SerfsTer10) c.7551_7552delinsT c.10606_10607delinsT (p.Asp3536SerfsTer10) c.760_761delinsT (p.Asp254SerfsTer10) c.1962_1963delinsT c.1703_1704delinsT c.4097_4098delinsT (n.4097_4098delinsT) c.10480_10481delinsT (p.Asp3494SerfsTer10) n.4409_4410delinsT c.10609_10610delinsT (p.Asp3537SerfsTer10) | |
2 | g.73572483_73572488delinsTCAAA | CA2586964942 | ALMS1 | c.10225_10230delinsTCAAA (p.Asp3409SerfsTer10) c.3311_3316delinsTCAAA c.7506_7511delinsTCAAA c.4672_4677delinsTCAAA (p.Asp1558SerfsTer10) c.7551_7556delinsTCAAA c.10606_10611delinsTCAAA (p.Asp3536SerfsTer10) c.760_765delinsTCAAA (p.Asp254SerfsTer10) c.1962_1967delinsTCAAA c.1703_1708delinsTCAAA c.4097_4102delinsTCAAA (n.4097_4102delinsTCAAA) c.10480_10485delinsTCAAA (p.Asp3494SerfsTer10) n.4409_4414delinsTCAAA c.10609_10614delinsTCAAA (p.Asp3537SerfsTer10) | |
2 | g.73572484A>C | CA347284108 | ALMS1 | c.10226A>C (p.Asp3409Ala) c.3312A>C c.7507A>C c.4673A>C (p.Asp1558Ala) c.7552A>C c.10607A>C (p.Asp3536Ala) c.761A>C (p.Asp254Ala) c.1963A>C c.1704A>C c.4098A>C (n.4098A>C) c.10481A>C (p.Asp3494Ala) n.4410A>C c.10610A>C (p.Asp3537Ala) | |
2 | g.73572484A>G | CA347284109 | ALMS1 | c.10226A>G (p.Asp3409Gly) c.3312A>G c.7507A>G c.4673A>G (p.Asp1558Gly) c.7552A>G c.10607A>G (p.Asp3536Gly) c.761A>G (p.Asp254Gly) c.1963A>G c.1704A>G c.4098A>G (n.4098A>G) c.10481A>G (p.Asp3494Gly) n.4410A>G c.10610A>G (p.Asp3537Gly) | ClinVar |
2 | g.73572484A>T | CA347284110 | ALMS1 | c.10226A>T (p.Asp3409Val) c.3312A>T c.7507A>T c.4673A>T (p.Asp1558Val) c.7552A>T c.10607A>T (p.Asp3536Val) c.761A>T (p.Asp254Val) c.1963A>T c.1704A>T c.4098A>T (n.4098A>T) c.10481A>T (p.Asp3494Val) n.4410A>T c.10610A>T (p.Asp3537Val) | gnomAD v4 |
2 | g.73572485C>A | CA347284113 | ALMS1 | c.10227C>A (p.Asp3409Glu) c.3313C>A c.7508C>A c.4674C>A (p.Asp1558Glu) c.7553C>A c.10608C>A (p.Asp3536Glu) c.762C>A (p.Asp254Glu) c.1964C>A c.1705C>A c.4099C>A (n.4099C>A) c.10482C>A (p.Asp3494Glu) n.4411C>A c.10611C>A (p.Asp3537Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572485C= | CA1261021233 | ALMS1 | c.10227C= (p.Asp3409=) c.3313C= c.7508C= c.4674C= (p.Asp1558=) c.7553C= c.10608C= (p.Asp3536=) c.762C= (p.Asp254=) c.1964C= c.1705C= c.4099C= (n.4099C=) c.10482C= (p.Asp3494=) n.4411C= c.10611C= (p.Asp3537=) | |
2 | g.73572485C>G | CA50386294 | ALMS1 | c.10227C>G (p.Asp3409Glu) c.3313C>G c.7508C>G c.4674C>G (p.Asp1558Glu) c.7553C>G c.10608C>G (p.Asp3536Glu) c.762C>G (p.Asp254Glu) c.1964C>G c.1705C>G c.4099C>G (n.4099C>G) c.10482C>G (p.Asp3494Glu) n.4411C>G c.10611C>G (p.Asp3537Glu) | dbSNP gnomAD v4 |
2 | g.73572485C>T | CA1715035 | ALMS1 | c.10227C>T (p.Asp3409=) c.3313C>T c.7508C>T c.4674C>T (p.Asp1558=) c.7553C>T c.10608C>T (p.Asp3536=) c.762C>T (p.Asp254=) c.1964C>T c.1705C>T c.4099C>T (n.4099C>T) c.10482C>T (p.Asp3494=) n.4411C>T c.10611C>T (p.Asp3537=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572486A>C | CA347284120 | ALMS1 | c.10228A>C (p.Lys3410Gln) c.3314A>C c.7509A>C c.4675A>C (p.Lys1559Gln) c.7554A>C c.10609A>C (p.Lys3537Gln) c.763A>C (p.Lys255Gln) c.1965A>C c.1706A>C c.4100A>C (n.4100A>C) c.10483A>C (p.Lys3495Gln) n.4412A>C c.10612A>C (p.Lys3538Gln) | |
2 | g.73572486A>G | CA347284123 | ALMS1 | c.10228A>G (p.Lys3410Glu) c.3314A>G c.7509A>G c.4675A>G (p.Lys1559Glu) c.7554A>G c.10609A>G (p.Lys3537Glu) c.763A>G (p.Lys255Glu) c.1965A>G c.1706A>G c.4100A>G (n.4100A>G) c.10483A>G (p.Lys3495Glu) n.4412A>G c.10612A>G (p.Lys3538Glu) | |
2 | g.73572486A>T | CA347284128 | ALMS1 | c.10228A>T (p.Lys3410Ter) c.3314A>T c.7509A>T c.4675A>T (p.Lys1559Ter) c.7554A>T c.10609A>T (p.Lys3537Ter) c.763A>T (p.Lys255Ter) c.1965A>T c.1706A>T c.4100A>T (n.4100A>T) c.10483A>T (p.Lys3495Ter) n.4412A>T c.10612A>T (p.Lys3538Ter) | |
2 | g.73572487A>C | CA347284133 | ALMS1 | c.10229A>C (p.Lys3410Thr) c.3315A>C c.7510A>C c.4676A>C (p.Lys1559Thr) c.7555A>C c.10610A>C (p.Lys3537Thr) c.764A>C (p.Lys255Thr) c.1966A>C c.1707A>C c.4101A>C (n.4101A>C) c.10484A>C (p.Lys3495Thr) n.4413A>C c.10613A>C (p.Lys3538Thr) | |
2 | g.73572487A>G | CA347284136 | ALMS1 | c.10229A>G (p.Lys3410Arg) c.3315A>G c.7510A>G c.4676A>G (p.Lys1559Arg) c.7555A>G c.10610A>G (p.Lys3537Arg) c.764A>G (p.Lys255Arg) c.1966A>G c.1707A>G c.4101A>G (n.4101A>G) c.10484A>G (p.Lys3495Arg) n.4413A>G c.10613A>G (p.Lys3538Arg) | |
2 | g.73572487A>T | CA347284139 | ALMS1 | c.10229A>T (p.Lys3410Met) c.3315A>T c.7510A>T c.4676A>T (p.Lys1559Met) c.7555A>T c.10610A>T (p.Lys3537Met) c.764A>T (p.Lys255Met) c.1966A>T c.1707A>T c.4101A>T (n.4101A>T) c.10484A>T (p.Lys3495Met) n.4413A>T c.10613A>T (p.Lys3538Met) | |
2 | g.73572488G>A | CA427023997 | ALMS1 | c.10230G>A (p.Lys3410=) c.3316G>A c.7511G>A c.4677G>A (p.Lys1559=) c.7556G>A c.10611G>A (p.Lys3537=) c.765G>A (p.Lys255=) c.1967G>A c.1708G>A c.4102G>A (n.4102G>A) c.10485G>A (p.Lys3495=) n.4414G>A c.10614G>A (p.Lys3538=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572488G>C | CA347284148 | ALMS1 | c.10230G>C (p.Lys3410Asn) c.3316G>C c.7511G>C c.4677G>C (p.Lys1559Asn) c.7556G>C c.10611G>C (p.Lys3537Asn) c.765G>C (p.Lys255Asn) c.1967G>C c.1708G>C c.4102G>C (n.4102G>C) c.10485G>C (p.Lys3495Asn) n.4414G>C c.10614G>C (p.Lys3538Asn) | |
2 | g.73572488G= | CA1261021234 | ALMS1 | c.10230G= (p.Lys3410=) c.3316G= c.7511G= c.4677G= (p.Lys1559=) c.7556G= c.10611G= (p.Lys3537=) c.765G= (p.Lys255=) c.1967G= c.1708G= c.4102G= (n.4102G=) c.10485G= (p.Lys3495=) n.4414G= c.10614G= (p.Lys3538=) | |
2 | g.73572488G>T | CA347284145 | ALMS1 | c.10230G>T (p.Lys3410Asn) c.3316G>T c.7511G>T c.4677G>T (p.Lys1559Asn) c.7556G>T c.10611G>T (p.Lys3537Asn) c.765G>T (p.Lys255Asn) c.1967G>T c.1708G>T c.4102G>T (n.4102G>T) c.10485G>T (p.Lys3495Asn) n.4414G>T c.10614G>T (p.Lys3538Asn) | |
2 | g.73572489A= | CA1261021235 | ALMS1 | c.10231A= (p.Thr3411=) c.3317A= c.7512A= c.4678A= (p.Thr1560=) c.7557A= c.10612A= (p.Thr3538=) c.766A= (p.Thr256=) c.1968A= c.1709A= c.4103A= (n.4103A=) c.10486A= (p.Thr3496=) n.4415A= c.10615A= (p.Thr3539=) | |
2 | g.73572489A>C | CA347284153 | ALMS1 | c.10231A>C (p.Thr3411Pro) c.3317A>C c.7512A>C c.4678A>C (p.Thr1560Pro) c.7557A>C c.10612A>C (p.Thr3538Pro) c.766A>C (p.Thr256Pro) c.1968A>C c.1709A>C c.4103A>C (n.4103A>C) c.10486A>C (p.Thr3496Pro) n.4415A>C c.10615A>C (p.Thr3539Pro) | gnomAD v4 |
2 | g.73572489A>G | CA347284156 | ALMS1 | c.10231A>G (p.Thr3411Ala) c.3317A>G c.7512A>G c.4678A>G (p.Thr1560Ala) c.7557A>G c.10612A>G (p.Thr3538Ala) c.766A>G (p.Thr256Ala) c.1968A>G c.1709A>G c.4103A>G (n.4103A>G) c.10486A>G (p.Thr3496Ala) n.4415A>G c.10615A>G (p.Thr3539Ala) | ClinVar dbSNP gnomAD v4 |
2 | g.73572489A>T | CA347284159 | ALMS1 | c.10231A>T (p.Thr3411Ser) c.3317A>T c.7512A>T c.4678A>T (p.Thr1560Ser) c.7557A>T c.10612A>T (p.Thr3538Ser) c.766A>T (p.Thr256Ser) c.1968A>T c.1709A>T c.4103A>T (n.4103A>T) c.10486A>T (p.Thr3496Ser) n.4415A>T c.10615A>T (p.Thr3539Ser) | |
2 | g.73572490C>A | CA347284164 | ALMS1 | c.10232C>A (p.Thr3411Asn) c.3318C>A c.7513C>A c.4679C>A (p.Thr1560Asn) c.7558C>A c.10613C>A (p.Thr3538Asn) c.767C>A (p.Thr256Asn) c.1969C>A c.1C>A c.1710C>A c.4104C>A (n.4104C>A) c.10487C>A (p.Thr3496Asn) n.4416C>A c.10616C>A (p.Thr3539Asn) | |
2 | g.73572490C>G | CA347284166 | ALMS1 | c.10232C>G (p.Thr3411Ser) c.3318C>G c.7513C>G c.4679C>G (p.Thr1560Ser) c.7558C>G c.10613C>G (p.Thr3538Ser) c.767C>G (p.Thr256Ser) c.1969C>G c.1C>G c.1710C>G c.4104C>G (n.4104C>G) c.10487C>G (p.Thr3496Ser) n.4416C>G c.10616C>G (p.Thr3539Ser) | |
2 | g.73572490C>T | CA347284175 | ALMS1 | c.10232C>T (p.Thr3411Ile) c.3318C>T c.7513C>T c.4679C>T (p.Thr1560Ile) c.7558C>T c.10613C>T (p.Thr3538Ile) c.767C>T (p.Thr256Ile) c.1969C>T c.1C>T c.1710C>T c.4104C>T (n.4104C>T) c.10487C>T (p.Thr3496Ile) n.4416C>T c.10616C>T (p.Thr3539Ile) | ClinVar |
2 | g.73572491T>A | CA427024003 | ALMS1 | c.10233T>A (p.Thr3411=) c.3319T>A c.7514T>A c.4680T>A (p.Thr1560=) c.7559T>A c.10614T>A (p.Thr3538=) c.768T>A (p.Thr256=) c.1970T>A c.2T>A c.1711T>A c.4105T>A (n.4105T>A) c.10488T>A (p.Thr3496=) n.4417T>A c.10617T>A (p.Thr3539=) | |
2 | g.73572491T>C | CA427024005 | ALMS1 | c.10233T>C (p.Thr3411=) c.3319T>C c.7514T>C c.4680T>C (p.Thr1560=) c.7559T>C c.10614T>C (p.Thr3538=) c.768T>C (p.Thr256=) c.1970T>C c.2T>C c.1711T>C c.4105T>C (n.4105T>C) c.10488T>C (p.Thr3496=) n.4417T>C c.10617T>C (p.Thr3539=) | |
2 | g.73572491T>G | CA427024008 | ALMS1 | c.10233T>G (p.Thr3411=) c.3319T>G c.7514T>G c.4680T>G (p.Thr1560=) c.7559T>G c.10614T>G (p.Thr3538=) c.768T>G (p.Thr256=) c.1970T>G c.2T>G c.1711T>G c.4105T>G (n.4105T>G) c.10488T>G (p.Thr3496=) n.4417T>G c.10617T>G (p.Thr3539=) | |
2 | g.73572492A>C | CA347284179 | ALMS1 | c.10234A>C (p.Lys3412Gln) c.3320A>C c.7515A>C c.4681A>C (p.Lys1561Gln) c.7560A>C c.10615A>C (p.Lys3539Gln) c.769A>C (p.Lys257Gln) c.1971A>C c.3A>C c.1712A>C c.4106A>C (n.4106A>C) c.10489A>C (p.Lys3497Gln) n.4418A>C c.10618A>C (p.Lys3540Gln) | |
2 | g.73572492A>G | CA347284186 | ALMS1 | c.10234A>G (p.Lys3412Glu) c.3320A>G c.7515A>G c.4681A>G (p.Lys1561Glu) c.7560A>G c.10615A>G (p.Lys3539Glu) c.769A>G (p.Lys257Glu) c.1971A>G c.3A>G c.1712A>G c.4106A>G (n.4106A>G) c.10489A>G (p.Lys3497Glu) n.4418A>G c.10618A>G (p.Lys3540Glu) | |
2 | g.73572492A>T | CA347284181 | ALMS1 | c.10234A>T (p.Lys3412Ter) c.3320A>T c.7515A>T c.4681A>T (p.Lys1561Ter) c.7560A>T c.10615A>T (p.Lys3539Ter) c.769A>T (p.Lys257Ter) c.1971A>T c.3A>T c.1712A>T c.4106A>T (n.4106A>T) c.10489A>T (p.Lys3497Ter) n.4418A>T c.10618A>T (p.Lys3540Ter) | |
2 | g.73572493A= | CA1261021236 | ALMS1 | c.10235A= (p.Lys3412=) c.3321A= c.7516A= c.4682A= (p.Lys1561=) c.7561A= c.10616A= (p.Lys3539=) c.770A= (p.Lys257=) c.1972A= c.4A= c.1713A= c.4107A= (n.4107A=) c.10490A= (p.Lys3497=) n.4419A= c.10619A= (p.Lys3540=) | |
2 | g.73572493A>C | CA347284189 | ALMS1 | c.10235A>C (p.Lys3412Thr) c.3321A>C c.7516A>C c.4682A>C (p.Lys1561Thr) c.7561A>C c.10616A>C (p.Lys3539Thr) c.770A>C (p.Lys257Thr) c.1972A>C c.4A>C c.1713A>C c.4107A>C (n.4107A>C) c.10490A>C (p.Lys3497Thr) n.4419A>C c.10619A>C (p.Lys3540Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572493A>G | CA347284194 | ALMS1 | c.10235A>G (p.Lys3412Arg) c.3321A>G c.7516A>G c.4682A>G (p.Lys1561Arg) c.7561A>G c.10616A>G (p.Lys3539Arg) c.770A>G (p.Lys257Arg) c.1972A>G c.4A>G c.1713A>G c.4107A>G (n.4107A>G) c.10490A>G (p.Lys3497Arg) n.4419A>G c.10619A>G (p.Lys3540Arg) | gnomAD v4 |
2 | g.73572493A>T | CA347284198 | ALMS1 | c.10235A>T (p.Lys3412Met) c.3321A>T c.7516A>T c.4682A>T (p.Lys1561Met) c.7561A>T c.10616A>T (p.Lys3539Met) c.770A>T (p.Lys257Met) c.1972A>T c.4A>T c.1713A>T c.4107A>T (n.4107A>T) c.10490A>T (p.Lys3497Met) n.4419A>T c.10619A>T (p.Lys3540Met) | |
2 | g.73572496_73572499del | CA2499216271 | ALMS1 | c.10238_10241del (p.Thr3413IlefsTer5) c.3324_3327del c.7519_7522del c.4685_4688del (p.Thr1562IlefsTer5) c.7564_7567del c.10619_10622del (p.Thr3540IlefsTer5) c.773_776del (p.Thr258IlefsTer5) c.1975_1978del c.7_10del c.1716_1719del c.4110_4113del (n.4110_4113del) c.10493_10496del (p.Thr3498IlefsTer5) n.4422_4425del c.10622_10625del (p.Thr3541IlefsTer5) | ClinVar dbSNP gnomAD v4 |
2 | g.73572494G>A | CA427024015 | ALMS1 | c.10236G>A (p.Lys3412=) c.3322G>A c.7517G>A c.4683G>A (p.Lys1561=) c.7562G>A c.10617G>A (p.Lys3539=) c.771G>A (p.Lys257=) c.1973G>A c.5G>A c.1714G>A c.4108G>A (n.4108G>A) c.10491G>A (p.Lys3497=) n.4420G>A c.10620G>A (p.Lys3540=) | |
2 | g.73572494G>C | CA347284201 | ALMS1 | c.10236G>C (p.Lys3412Asn) c.3322G>C c.7517G>C c.4683G>C (p.Lys1561Asn) c.7562G>C c.10617G>C (p.Lys3539Asn) c.771G>C (p.Lys257Asn) c.1973G>C c.5G>C c.1714G>C c.4108G>C (n.4108G>C) c.10491G>C (p.Lys3497Asn) n.4420G>C c.10620G>C (p.Lys3540Asn) | |
2 | g.73572494G>T | CA347284207 | ALMS1 | c.10236G>T (p.Lys3412Asn) c.3322G>T c.7517G>T c.4683G>T (p.Lys1561Asn) c.7562G>T c.10617G>T (p.Lys3539Asn) c.771G>T (p.Lys257Asn) c.1973G>T c.5G>T c.1714G>T c.4108G>T (n.4108G>T) c.10491G>T (p.Lys3497Asn) n.4420G>T c.10620G>T (p.Lys3540Asn) | |
2 | g.73572495A>C | CA347284211 | ALMS1 | c.10237A>C (p.Thr3413Pro) c.3323A>C c.7518A>C c.4684A>C (p.Thr1562Pro) c.7563A>C c.10618A>C (p.Thr3540Pro) c.772A>C (p.Thr258Pro) c.1974A>C c.6A>C c.1715A>C c.4109A>C (n.4109A>C) c.10492A>C (p.Thr3498Pro) n.4421A>C c.10621A>C (p.Thr3541Pro) | |
2 | g.73572495A>G | CA347284213 | ALMS1 | c.10237A>G (p.Thr3413Ala) c.3323A>G c.7518A>G c.4684A>G (p.Thr1562Ala) c.7563A>G c.10618A>G (p.Thr3540Ala) c.772A>G (p.Thr258Ala) c.1974A>G c.6A>G c.1715A>G c.4109A>G (n.4109A>G) c.10492A>G (p.Thr3498Ala) n.4421A>G c.10621A>G (p.Thr3541Ala) | gnomAD v4 |
2 | g.73572495A>T | CA347284217 | ALMS1 | c.10237A>T (p.Thr3413Ser) c.3323A>T c.7518A>T c.4684A>T (p.Thr1562Ser) c.7563A>T c.10618A>T (p.Thr3540Ser) c.772A>T (p.Thr258Ser) c.1974A>T c.6A>T c.1715A>T c.4109A>T (n.4109A>T) c.10492A>T (p.Thr3498Ser) n.4421A>T c.10621A>T (p.Thr3541Ser) | |
2 | g.73572495_73572496insACC | CA2750467769 | ALMS1 | c.10237_10238insACC (p.Thr3413delinsAsnPro) c.3323_3324insACC c.7518_7519insACC c.4684_4685insACC (p.Thr1562delinsAsnPro) c.7563_7564insACC c.10618_10619insACC (p.Thr3540delinsAsnPro) c.772_773insACC (p.Thr258delinsAsnPro) c.1974_1975insACC c.6_7insACC c.1715_1716insACC c.4109_4110insACC (n.4109_4110insACC) c.10492_10493insACC (p.Thr3498delinsAsnPro) n.4421_4422insACC c.10621_10622insACC (p.Thr3541delinsAsnPro) | |
2 | g.73572496C>A | CA347284220 | ALMS1 | c.10238C>A (p.Thr3413Lys) c.3324C>A c.7519C>A c.4685C>A (p.Thr1562Lys) c.7564C>A c.10619C>A (p.Thr3540Lys) c.773C>A (p.Thr258Lys) c.1975C>A c.7C>A c.1716C>A c.4110C>A (n.4110C>A) c.10493C>A (p.Thr3498Lys) n.4422C>A c.10622C>A (p.Thr3541Lys) | |
2 | g.73572496C>G | CA347284221 | ALMS1 | c.10238C>G (p.Thr3413Arg) c.3324C>G c.7519C>G c.4685C>G (p.Thr1562Arg) c.7564C>G c.10619C>G (p.Thr3540Arg) c.773C>G (p.Thr258Arg) c.1975C>G c.7C>G c.1716C>G c.4110C>G (n.4110C>G) c.10493C>G (p.Thr3498Arg) n.4422C>G c.10622C>G (p.Thr3541Arg) | |
2 | g.73572496C>T | CA347284223 | ALMS1 | c.10238C>T (p.Thr3413Ile) c.3324C>T c.7519C>T c.4685C>T (p.Thr1562Ile) c.7564C>T c.10619C>T (p.Thr3540Ile) c.773C>T (p.Thr258Ile) c.1975C>T c.7C>T c.1716C>T c.4110C>T (n.4110C>T) c.10493C>T (p.Thr3498Ile) n.4422C>T c.10622C>T (p.Thr3541Ile) | |
2 | g.73572497A>C | CA427024029 | ALMS1 | c.10239A>C (p.Thr3413=) c.3325A>C c.7520A>C c.4686A>C (p.Thr1562=) c.7565A>C c.10620A>C (p.Thr3540=) c.774A>C (p.Thr258=) c.1976A>C c.8A>C c.1717A>C c.4111A>C (n.4111A>C) c.10494A>C (p.Thr3498=) n.4423A>C c.10623A>C (p.Thr3541=) | |
2 | g.73572497A>G | CA427024026 | ALMS1 | c.10239A>G (p.Thr3413=) c.3325A>G c.7520A>G c.4686A>G (p.Thr1562=) c.7565A>G c.10620A>G (p.Thr3540=) c.774A>G (p.Thr258=) c.1976A>G c.8A>G c.1717A>G c.4111A>G (n.4111A>G) c.10494A>G (p.Thr3498=) n.4423A>G c.10623A>G (p.Thr3541=) | ClinVar dbSNP |
2 | g.73572497A>T | CA427024027 | ALMS1 | c.10239A>T (p.Thr3413=) c.3325A>T c.7520A>T c.4686A>T (p.Thr1562=) c.7565A>T c.10620A>T (p.Thr3540=) c.774A>T (p.Thr258=) c.1976A>T c.8A>T c.1717A>T c.4111A>T (n.4111A>T) c.10494A>T (p.Thr3498=) n.4423A>T c.10623A>T (p.Thr3541=) | |
2 | g.73572498G>A | CA347284235 | ALMS1 | c.10240G>A (p.Asp3414Asn) c.3326G>A c.7521G>A c.4687G>A (p.Asp1563Asn) c.7566G>A c.10621G>A (p.Asp3541Asn) c.775G>A (p.Asp259Asn) c.1977G>A c.9G>A c.1718G>A c.4112G>A (n.4112G>A) c.10495G>A (p.Asp3499Asn) n.4424G>A c.10624G>A (p.Asp3542Asn) | ClinVar dbSNP |
2 | g.73572498G>C | CA347284232 | ALMS1 | c.10240G>C (p.Asp3414His) c.3326G>C c.7521G>C c.4687G>C (p.Asp1563His) c.7566G>C c.10621G>C (p.Asp3541His) c.775G>C (p.Asp259His) c.1977G>C c.9G>C c.1718G>C c.4112G>C (n.4112G>C) c.10495G>C (p.Asp3499His) n.4424G>C c.10624G>C (p.Asp3542His) | |
2 | g.73572498G= | CA1261021237 | ALMS1 | c.10240G= (p.Asp3414=) c.3326G= c.7521G= c.4687G= (p.Asp1563=) c.7566G= c.10621G= (p.Asp3541=) c.775G= (p.Asp259=) c.1977G= c.9G= c.1718G= c.4112G= (n.4112G=) c.10495G= (p.Asp3499=) n.4424G= c.10624G= (p.Asp3542=) | |
2 | g.73572498G>T | CA347284229 | ALMS1 | c.10240G>T (p.Asp3414Tyr) c.3326G>T c.7521G>T c.4687G>T (p.Asp1563Tyr) c.7566G>T c.10621G>T (p.Asp3541Tyr) c.775G>T (p.Asp259Tyr) c.1977G>T c.9G>T c.1718G>T c.4112G>T (n.4112G>T) c.10495G>T (p.Asp3499Tyr) n.4424G>T c.10624G>T (p.Asp3542Tyr) | |
2 | g.73572499A= | CA1261021238 | ALMS1 | c.10241A= (p.Asp3414=) c.3327A= c.7522A= c.4688A= (p.Asp1563=) c.7567A= c.10622A= (p.Asp3541=) c.776A= (p.Asp259=) c.1978A= c.10A= c.1719A= c.4113A= (n.4113A=) c.10496A= (p.Asp3499=) n.4425A= c.10625A= (p.Asp3542=) | |
2 | g.73572499A>C | CA347284239 | ALMS1 | c.10241A>C (p.Asp3414Ala) c.3327A>C c.7522A>C c.4688A>C (p.Asp1563Ala) c.7567A>C c.10622A>C (p.Asp3541Ala) c.776A>C (p.Asp259Ala) c.1978A>C c.10A>C c.1719A>C c.4113A>C (n.4113A>C) c.10496A>C (p.Asp3499Ala) n.4425A>C c.10625A>C (p.Asp3542Ala) | |
2 | g.73572499A>G | CA347284244 | ALMS1 | c.10241A>G (p.Asp3414Gly) c.3327A>G c.7522A>G c.4688A>G (p.Asp1563Gly) c.7567A>G c.10622A>G (p.Asp3541Gly) c.776A>G (p.Asp259Gly) c.1978A>G c.10A>G c.1719A>G c.4113A>G (n.4113A>G) c.10496A>G (p.Asp3499Gly) n.4425A>G c.10625A>G (p.Asp3542Gly) | |
2 | g.73572499A>T | CA347284243 | ALMS1 | c.10241A>T (p.Asp3414Val) c.3327A>T c.7522A>T c.4688A>T (p.Asp1563Val) c.7567A>T c.10622A>T (p.Asp3541Val) c.776A>T (p.Asp259Val) c.1978A>T c.10A>T c.1719A>T c.4113A>T (n.4113A>T) c.10496A>T (p.Asp3499Val) n.4425A>T c.10625A>T (p.Asp3542Val) | |
2 | g.73572499_73572500insACGGG | CA534123606 | ALMS1 | c.10241_10242insACGGG (p.Asp3414GlufsTer7) c.3327_3328insACGGG c.7522_7523insACGGG c.4688_4689insACGGG (p.Asp1563GlufsTer7) c.7567_7568insACGGG c.10622_10623insACGGG (p.Asp3541GlufsTer7) c.776_777insACGGG (p.Asp259GlufsTer7) c.1978_1979insACGGG c.10_11insACGGG c.1719_1720insACGGG c.4113_4114insACGGG (n.4113_4114insACGGG) c.10496_10497insACGGG (p.Asp3499GlufsTer7) n.4425_4426insACGGG c.10625_10626insACGGG (p.Asp3542GlufsTer7) | dbSNP gnomAD v2 |
2 | g.73572499_73572500insACGGGTAGTAT | CA2533181878 | ALMS1 | c.10241_10242insACGGGTAGTAT (p.Asp3414GlufsTer9) c.3327_3328insACGGGTAGTAT c.7522_7523insACGGGTAGTAT c.4688_4689insACGGGTAGTAT (p.Asp1563GlufsTer9) c.7567_7568insACGGGTAGTAT c.10622_10623insACGGGTAGTAT (p.Asp3541GlufsTer9) c.776_777insACGGGTAGTAT (p.Asp259GlufsTer9) c.1978_1979insACGGGTAGTAT c.10_11insACGGGTAGTAT c.1719_1720insACGGGTAGTAT c.4113_4114insACGGGTAGTAT (n.4113_4114insACGGGTAGTAT) c.10496_10497insACGGGTAGTAT (p.Asp3499GlufsTer9) n.4425_4426insACGGGTAGTAT c.10625_10626insACGGGTAGTAT (p.Asp3542GlufsTer9) | |
2 | g.73572499_73572500insACGGGTAGTATT | CA1261021239 | ALMS1 | c.10241_10242insACGGGTAGTATT (p.Asp3414delinsGluArgValValPhe) c.3327_3328insACGGGTAGTATT c.7522_7523insACGGGTAGTATT c.4688_4689insACGGGTAGTATT (p.Asp1563delinsGluArgValValPhe) c.7567_7568insACGGGTAGTATT c.10622_10623insACGGGTAGTATT (p.Asp3541delinsGluArgValValPhe) c.776_777insACGGGTAGTATT (p.Asp259delinsGluArgValValPhe) c.1978_1979insACGGGTAGTATT c.10_11insACGGGTAGTATT c.1719_1720insACGGGTAGTATT c.4113_4114insACGGGTAGTATT (n.4113_4114insACGGGTAGTATT) c.10496_10497insACGGGTAGTATT (p.Asp3499delinsGluArgValValPhe) n.4425_4426insACGGGTAGTATT c.10625_10626insACGGGTAGTATT (p.Asp3542delinsGluArgValValPhe) | dbSNP |
2 | g.73572500T>A | CA347284249 | ALMS1 | c.10242T>A (p.Asp3414Glu) c.3328T>A c.7523T>A c.4689T>A (p.Asp1563Glu) c.7568T>A c.10623T>A (p.Asp3541Glu) c.777T>A (p.Asp259Glu) c.1979T>A c.11T>A c.1720T>A c.4114T>A (n.4114T>A) c.10497T>A (p.Asp3499Glu) n.4426T>A c.10626T>A (p.Asp3542Glu) | |
2 | g.73572500T>C | CA427024033 | ALMS1 | c.10242T>C (p.Asp3414=) c.3328T>C c.7523T>C c.4689T>C (p.Asp1563=) c.7568T>C c.10623T>C (p.Asp3541=) c.777T>C (p.Asp259=) c.1979T>C c.11T>C c.1720T>C c.4114T>C (n.4114T>C) c.10497T>C (p.Asp3499=) n.4426T>C c.10626T>C (p.Asp3542=) | |
2 | g.73572500T>G | CA347284253 | ALMS1 | c.10242T>G (p.Asp3414Glu) c.3328T>G c.7523T>G c.4689T>G (p.Asp1563Glu) c.7568T>G c.10623T>G (p.Asp3541Glu) c.777T>G (p.Asp259Glu) c.1979T>G c.11T>G c.1720T>G c.4114T>G (n.4114T>G) c.10497T>G (p.Asp3499Glu) n.4426T>G c.10626T>G (p.Asp3542Glu) | |
2 | g.73572501T>A | CA347284258 | ALMS1 | c.10243T>A (p.Tyr3415Asn) c.3329T>A c.7524T>A c.4690T>A (p.Tyr1564Asn) c.7569T>A c.10624T>A (p.Tyr3542Asn) c.778T>A (p.Tyr260Asn) c.1980T>A c.12T>A c.1721T>A c.4115T>A (n.4115T>A) c.10498T>A (p.Tyr3500Asn) n.4427T>A c.10627T>A (p.Tyr3543Asn) | |
2 | g.73572501T>C | CA347284261 | ALMS1 | c.10243T>C (p.Tyr3415His) c.3329T>C c.7524T>C c.4690T>C (p.Tyr1564His) c.7569T>C c.10624T>C (p.Tyr3542His) c.778T>C (p.Tyr260His) c.1980T>C c.12T>C c.1721T>C c.4115T>C (n.4115T>C) c.10498T>C (p.Tyr3500His) n.4427T>C c.10627T>C (p.Tyr3543His) | |
2 | g.73572501T>G | CA347284264 | ALMS1 | c.10243T>G (p.Tyr3415Asp) c.3329T>G c.7524T>G c.4690T>G (p.Tyr1564Asp) c.7569T>G c.10624T>G (p.Tyr3542Asp) c.778T>G (p.Tyr260Asp) c.1980T>G c.12T>G c.1721T>G c.4115T>G (n.4115T>G) c.10498T>G (p.Tyr3500Asp) n.4427T>G c.10627T>G (p.Tyr3543Asp) | gnomAD v4 |
2 | g.73572502A= | CA1261021240 | ALMS1 | c.10244A= (p.Tyr3415=) c.3330A= c.7525A= c.4691A= (p.Tyr1564=) c.7570A= c.10625A= (p.Tyr3542=) c.779A= (p.Tyr260=) c.1981A= c.13A= c.1722A= c.4116A= (n.4116A=) c.10499A= (p.Tyr3500=) n.4428A= c.10628A= (p.Tyr3543=) | |
2 | g.73572502A>C | CA347284268 | ALMS1 | c.10244A>C (p.Tyr3415Ser) c.3330A>C c.7525A>C c.4691A>C (p.Tyr1564Ser) c.7570A>C c.10625A>C (p.Tyr3542Ser) c.779A>C (p.Tyr260Ser) c.1981A>C c.13A>C c.1722A>C c.4116A>C (n.4116A>C) c.10499A>C (p.Tyr3500Ser) n.4428A>C c.10628A>C (p.Tyr3543Ser) | |
2 | g.73572502A>G | CA1715036 | ALMS1 | c.10244A>G (p.Tyr3415Cys) c.3330A>G c.7525A>G c.4691A>G (p.Tyr1564Cys) c.7570A>G c.10625A>G (p.Tyr3542Cys) c.779A>G (p.Tyr260Cys) c.1981A>G c.13A>G c.1722A>G c.4116A>G (n.4116A>G) c.10499A>G (p.Tyr3500Cys) n.4428A>G c.10628A>G (p.Tyr3543Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572502A>T | CA347284273 | ALMS1 | c.10244A>T (p.Tyr3415Phe) c.3330A>T c.7525A>T c.4691A>T (p.Tyr1564Phe) c.7570A>T c.10625A>T (p.Tyr3542Phe) c.779A>T (p.Tyr260Phe) c.1981A>T c.13A>T c.1722A>T c.4116A>T (n.4116A>T) c.10499A>T (p.Tyr3500Phe) n.4428A>T c.10628A>T (p.Tyr3543Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572503T>A | CA347284278 | ALMS1 | c.10245T>A (p.Tyr3415Ter) c.3331T>A c.7526T>A c.4692T>A (p.Tyr1564Ter) c.7571T>A c.10626T>A (p.Tyr3542Ter) c.780T>A (p.Tyr260Ter) c.1982T>A c.14T>A c.1723T>A c.4117T>A (n.4117T>A) c.10500T>A (p.Tyr3500Ter) n.4429T>A c.10629T>A (p.Tyr3543Ter) | |
2 | g.73572503T>C | CA427024040 | ALMS1 | c.10245T>C (p.Tyr3415=) c.3331T>C c.7526T>C c.4692T>C (p.Tyr1564=) c.7571T>C c.10626T>C (p.Tyr3542=) c.780T>C (p.Tyr260=) c.1982T>C c.14T>C c.1723T>C c.4117T>C (n.4117T>C) c.10500T>C (p.Tyr3500=) n.4429T>C c.10629T>C (p.Tyr3543=) | |
2 | g.73572503T>G | CA347284281 | ALMS1 | c.10245T>G (p.Tyr3415Ter) c.3331T>G c.7526T>G c.4692T>G (p.Tyr1564Ter) c.7571T>G c.10626T>G (p.Tyr3542Ter) c.780T>G (p.Tyr260Ter) c.1982T>G c.14T>G c.1723T>G c.4117T>G (n.4117T>G) c.10500T>G (p.Tyr3500Ter) n.4429T>G c.10629T>G (p.Tyr3543Ter) | |
2 | g.73572504A>C | CA347284285 | ALMS1 | c.10246A>C (p.Thr3416Pro) c.3332A>C c.7527A>C c.4693A>C (p.Thr1565Pro) c.7572A>C c.10627A>C (p.Thr3543Pro) c.781A>C (p.Thr261Pro) c.1983A>C c.15A>C c.1724A>C c.4118A>C (n.4118A>C) c.10501A>C (p.Thr3501Pro) n.4430A>C c.10630A>C (p.Thr3544Pro) | |
2 | g.73572504A>G | CA347284287 | ALMS1 | c.10246A>G (p.Thr3416Ala) c.3332A>G c.7527A>G c.4693A>G (p.Thr1565Ala) c.7572A>G c.10627A>G (p.Thr3543Ala) c.781A>G (p.Thr261Ala) c.1983A>G c.15A>G c.1724A>G c.4118A>G (n.4118A>G) c.10501A>G (p.Thr3501Ala) n.4430A>G c.10630A>G (p.Thr3544Ala) | gnomAD v4 |
2 | g.73572504A>T | CA347284290 | ALMS1 | c.10246A>T (p.Thr3416Ser) c.3332A>T c.7527A>T c.4693A>T (p.Thr1565Ser) c.7572A>T c.10627A>T (p.Thr3543Ser) c.781A>T (p.Thr261Ser) c.1983A>T c.15A>T c.1724A>T c.4118A>T (n.4118A>T) c.10501A>T (p.Thr3501Ser) n.4430A>T c.10630A>T (p.Thr3544Ser) | |
2 | g.73572505C>A | CA347284293 | ALMS1 | c.10247C>A (p.Thr3416Asn) c.3333C>A c.7528C>A c.4694C>A (p.Thr1565Asn) c.7573C>A c.10628C>A (p.Thr3543Asn) c.782C>A (p.Thr261Asn) c.1984C>A c.16C>A c.1725C>A c.4119C>A (n.4119C>A) c.10502C>A (p.Thr3501Asn) n.4431C>A c.10631C>A (p.Thr3544Asn) | |
2 | g.73572505C= | CA1261021241 | ALMS1 | c.10247C= (p.Thr3416=) c.3333C= c.7528C= c.4694C= (p.Thr1565=) c.7573C= c.10628C= (p.Thr3543=) c.782C= (p.Thr261=) c.1984C= c.16C= c.1725C= c.4119C= (n.4119C=) c.10502C= (p.Thr3501=) n.4431C= c.10631C= (p.Thr3544=) | |
2 | g.73572505C>G | CA349169 | ALMS1 | c.10247C>G (p.Thr3416Ser) c.3333C>G c.7528C>G c.4694C>G (p.Thr1565Ser) c.7573C>G c.10628C>G (p.Thr3543Ser) c.782C>G (p.Thr261Ser) c.1984C>G c.16C>G c.1725C>G c.4119C>G (n.4119C>G) c.10502C>G (p.Thr3501Ser) n.4431C>G c.10631C>G (p.Thr3544Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572505C>T | CA347284297 | ALMS1 | c.10247C>T (p.Thr3416Ile) c.3333C>T c.7528C>T c.4694C>T (p.Thr1565Ile) c.7573C>T c.10628C>T (p.Thr3543Ile) c.782C>T (p.Thr261Ile) c.1984C>T c.16C>T c.1725C>T c.4119C>T (n.4119C>T) c.10502C>T (p.Thr3501Ile) n.4431C>T c.10631C>T (p.Thr3544Ile) |