| 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?) |