Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73490022T>ACA347267229ALMS1c.7682T>A (p.Phe2561Tyr)
c.1074T>A
c.5134T>A
c.2129T>A (p.Phe710Tyr)
c.8063T>A (p.Phe2688Tyr)
c.896-29753T>A
c.2894T>A (p.Phe965Tyr)
c.7937T>A (p.Phe2646Tyr)
n.1866T>A
c.8066T>A (p.Phe2689Tyr)
2g.73490022T>CCA347267233ALMS1c.7682T>C (p.Phe2561Ser)
c.1074T>C
c.5134T>C
c.2129T>C (p.Phe710Ser)
c.8063T>C (p.Phe2688Ser)
c.896-29753T>C
c.2894T>C (p.Phe965Ser)
c.7937T>C (p.Phe2646Ser)
n.1866T>C
c.8066T>C (p.Phe2689Ser)
 gnomAD v4
2g.73490022T>GCA347267238ALMS1c.7682T>G (p.Phe2561Cys)
c.1074T>G
c.5134T>G
c.2129T>G (p.Phe710Cys)
c.8063T>G (p.Phe2688Cys)
c.896-29753T>G
c.2894T>G (p.Phe965Cys)
c.7937T>G (p.Phe2646Cys)
n.1866T>G
c.8066T>G (p.Phe2689Cys)
2g.73490023T>ACA347267242ALMS1c.7683T>A (p.Phe2561Leu)
c.1075T>A
c.5135T>A
c.2130T>A (p.Phe710Leu)
c.8064T>A (p.Phe2688Leu)
c.896-29752T>A
c.2895T>A (p.Phe965Leu)
c.7938T>A (p.Phe2646Leu)
n.1867T>A
c.8067T>A (p.Phe2689Leu)
2g.73490023T>CCA427000765ALMS1c.7683T>C (p.Phe2561=)
c.1075T>C
c.5135T>C
c.2130T>C (p.Phe710=)
c.8064T>C (p.Phe2688=)
c.896-29752T>C
c.2895T>C (p.Phe965=)
c.7938T>C (p.Phe2646=)
n.1867T>C
c.8067T>C (p.Phe2689=)
2g.73490023T>GCA347267243ALMS1c.7683T>G (p.Phe2561Leu)
c.1075T>G
c.5135T>G
c.2130T>G (p.Phe710Leu)
c.8064T>G (p.Phe2688Leu)
c.896-29752T>G
c.2895T>G (p.Phe965Leu)
c.7938T>G (p.Phe2646Leu)
n.1867T>G
c.8067T>G (p.Phe2689Leu)
2g.73490024G>ACA347267251ALMS1c.7684G>A (p.Val2562Met)
c.1076G>A
c.5136G>A
c.2131G>A (p.Val711Met)
c.8065G>A (p.Val2689Met)
c.896-29751G>A
c.2896G>A (p.Val966Met)
c.7939G>A (p.Val2647Met)
n.1868G>A
c.8068G>A (p.Val2690Met)
 dbSNP gnomAD v4
2g.73490024G>CCA347267247ALMS1c.7684G>C (p.Val2562Leu)
c.1076G>C
c.5136G>C
c.2131G>C (p.Val711Leu)
c.8065G>C (p.Val2689Leu)
c.896-29751G>C
c.2896G>C (p.Val966Leu)
c.7939G>C (p.Val2647Leu)
n.1868G>C
c.8068G>C (p.Val2690Leu)
2g.73490024G=CA1260981291ALMS1c.7684G= (p.Val2562=)
c.1076G=
c.5136G=
c.2131G= (p.Val711=)
c.8065G= (p.Val2689=)
c.896-29751G=
c.2896G= (p.Val966=)
c.7939G= (p.Val2647=)
n.1868G=
c.8068G= (p.Val2690=)
2g.73490024G>TCA347267249ALMS1c.7684G>T (p.Val2562Leu)
c.1076G>T
c.5136G>T
c.2131G>T (p.Val711Leu)
c.8065G>T (p.Val2689Leu)
c.896-29751G>T
c.2896G>T (p.Val966Leu)
c.7939G>T (p.Val2647Leu)
n.1868G>T
c.8068G>T (p.Val2690Leu)
 dbSNP
2g.73490025T>ACA347267259ALMS1c.7685T>A (p.Val2562Glu)
c.1077T>A
c.5137T>A
c.2132T>A (p.Val711Glu)
c.8066T>A (p.Val2689Glu)
c.896-29750T>A
c.2897T>A (p.Val966Glu)
c.7940T>A (p.Val2647Glu)
n.1869T>A
c.8069T>A (p.Val2690Glu)
2g.73490025T>CCA347267263ALMS1c.7685T>C (p.Val2562Ala)
c.1077T>C
c.5137T>C
c.2132T>C (p.Val711Ala)
c.8066T>C (p.Val2689Ala)
c.896-29750T>C
c.2897T>C (p.Val966Ala)
c.7940T>C (p.Val2647Ala)
n.1869T>C
c.8069T>C (p.Val2690Ala)
 gnomAD v4
2g.73490025T>GCA347267265ALMS1c.7685T>G (p.Val2562Gly)
c.1077T>G
c.5137T>G
c.2132T>G (p.Val711Gly)
c.8066T>G (p.Val2689Gly)
c.896-29750T>G
c.2897T>G (p.Val966Gly)
c.7940T>G (p.Val2647Gly)
n.1869T>G
c.8069T>G (p.Val2690Gly)
2g.73490026G>ACA427000766ALMS1c.7686G>A (p.Val2562=)
c.1078G>A
c.5138G>A
c.2133G>A (p.Val711=)
c.8067G>A (p.Val2689=)
c.896-29749G>A
c.2898G>A (p.Val966=)
c.7941G>A (p.Val2647=)
n.1870G>A
c.8070G>A (p.Val2690=)
2g.73490026G>CCA427000767ALMS1c.7686G>C (p.Val2562=)
c.1078G>C
c.5138G>C
c.2133G>C (p.Val711=)
c.8067G>C (p.Val2689=)
c.896-29749G>C
c.2898G>C (p.Val966=)
c.7941G>C (p.Val2647=)
n.1870G>C
c.8070G>C (p.Val2690=)
2g.73490026G>TCA427000768ALMS1c.7686G>T (p.Val2562=)
c.1078G>T
c.5138G>T
c.2133G>T (p.Val711=)
c.8067G>T (p.Val2689=)
c.896-29749G>T
c.2898G>T (p.Val966=)
c.7941G>T (p.Val2647=)
n.1870G>T
c.8070G>T (p.Val2690=)
2g.73490027C>ACA347267267ALMS1c.7687C>A (p.Pro2563Thr)
c.1079C>A
c.5139C>A
c.2134C>A (p.Pro712Thr)
c.8068C>A (p.Pro2690Thr)
c.896-29748C>A
c.2899C>A (p.Pro967Thr)
c.7942C>A (p.Pro2648Thr)
n.1871C>A
c.8071C>A (p.Pro2691Thr)
2g.73490027C=CA1260981296ALMS1c.7687C= (p.Pro2563=)
c.1079C=
c.5139C=
c.2134C= (p.Pro712=)
c.8068C= (p.Pro2690=)
c.896-29748C=
c.2899C= (p.Pro967=)
c.7942C= (p.Pro2648=)
n.1871C=
c.8071C= (p.Pro2691=)
2g.73490027C>GCA347267269ALMS1c.7687C>G (p.Pro2563Ala)
c.1079C>G
c.5139C>G
c.2134C>G (p.Pro712Ala)
c.8068C>G (p.Pro2690Ala)
c.896-29748C>G
c.2899C>G (p.Pro967Ala)
c.7942C>G (p.Pro2648Ala)
n.1871C>G
c.8071C>G (p.Pro2691Ala)
 ClinVar
2g.73490027C>TCA50377959ALMS1c.7687C>T (p.Pro2563Ser)
c.1079C>T
c.5139C>T
c.2134C>T (p.Pro712Ser)
c.8068C>T (p.Pro2690Ser)
c.896-29748C>T
c.2899C>T (p.Pro967Ser)
c.7942C>T (p.Pro2648Ser)
n.1871C>T
c.8071C>T (p.Pro2691Ser)
 dbSNP gnomAD v4
2g.73490028C>ACA347267273ALMS1c.7688C>A (p.Pro2563Gln)
c.1080C>A
c.5140C>A
c.2135C>A (p.Pro712Gln)
c.8069C>A (p.Pro2690Gln)
c.896-29747C>A
c.2900C>A (p.Pro967Gln)
c.7943C>A (p.Pro2648Gln)
n.1872C>A
c.8072C>A (p.Pro2691Gln)
2g.73490028C=CA1260981300ALMS1c.7688C= (p.Pro2563=)
c.1080C=
c.5140C=
c.2135C= (p.Pro712=)
c.8069C= (p.Pro2690=)
c.896-29747C=
c.2900C= (p.Pro967=)
c.7943C= (p.Pro2648=)
n.1872C=
c.8072C= (p.Pro2691=)
2g.73490028C>GCA347267277ALMS1c.7688C>G (p.Pro2563Arg)
c.1080C>G
c.5140C>G
c.2135C>G (p.Pro712Arg)
c.8069C>G (p.Pro2690Arg)
c.896-29747C>G
c.2900C>G (p.Pro967Arg)
c.7943C>G (p.Pro2648Arg)
n.1872C>G
c.8072C>G (p.Pro2691Arg)
2g.73490028C>TCA347267279ALMS1c.7688C>T (p.Pro2563Leu)
c.1080C>T
c.5140C>T
c.2135C>T (p.Pro712Leu)
c.8069C>T (p.Pro2690Leu)
c.896-29747C>T
c.2900C>T (p.Pro967Leu)
c.7943C>T (p.Pro2648Leu)
n.1872C>T
c.8072C>T (p.Pro2691Leu)
2g.73490029A>CCA427000769ALMS1c.7689A>C (p.Pro2563=)
c.1081A>C
c.5141A>C
c.2136A>C (p.Pro712=)
c.8070A>C (p.Pro2690=)
c.896-29746A>C
c.2901A>C (p.Pro967=)
c.7944A>C (p.Pro2648=)
n.1873A>C
c.8073A>C (p.Pro2691=)
2g.73490029A>GCA427000770ALMS1c.7689A>G (p.Pro2563=)
c.1081A>G
c.5141A>G
c.2136A>G (p.Pro712=)
c.8070A>G (p.Pro2690=)
c.896-29746A>G
c.2901A>G (p.Pro967=)
c.7944A>G (p.Pro2648=)
n.1873A>G
c.8073A>G (p.Pro2691=)
 ClinVar gnomAD v4
2g.73490029A>TCA427000771ALMS1c.7689A>T (p.Pro2563=)
c.1081A>T
c.5141A>T
c.2136A>T (p.Pro712=)
c.8070A>T (p.Pro2690=)
c.896-29746A>T
c.2901A>T (p.Pro967=)
c.7944A>T (p.Pro2648=)
n.1873A>T
c.8073A>T (p.Pro2691=)
 gnomAD v4
2g.73490029dupCA1260981302ALMS1c.7689dup (p.Pro2564ThrfsTer2)
c.1081dup
c.5141dup
c.2136dup (p.Pro713ThrfsTer2)
c.8070dup (p.Pro2691ThrfsTer2)
c.896-29746dup
c.2901dup (p.Pro968ThrfsTer2)
c.7944dup (p.Pro2649ThrfsTer2)
n.1873dup
c.8073dup (p.Pro2692ThrfsTer2)
 dbSNP
2g.73490030C>ACA347267284ALMS1c.7690C>A (p.Pro2564Thr)
c.1082C>A
c.5142C>A
c.2137C>A (p.Pro713Thr)
c.8071C>A (p.Pro2691Thr)
c.896-29745C>A
c.2902C>A (p.Pro968Thr)
c.7945C>A (p.Pro2649Thr)
n.1874C>A
c.8074C>A (p.Pro2692Thr)
2g.73490030C>GCA347267289ALMS1c.7690C>G (p.Pro2564Ala)
c.1082C>G
c.5142C>G
c.2137C>G (p.Pro713Ala)
c.8071C>G (p.Pro2691Ala)
c.896-29745C>G
c.2902C>G (p.Pro968Ala)
c.7945C>G (p.Pro2649Ala)
n.1874C>G
c.8074C>G (p.Pro2692Ala)
2g.73490030C>TCA347267294ALMS1c.7690C>T (p.Pro2564Ser)
c.1082C>T
c.5142C>T
c.2137C>T (p.Pro713Ser)
c.8071C>T (p.Pro2691Ser)
c.896-29745C>T
c.2902C>T (p.Pro968Ser)
c.7945C>T (p.Pro2649Ser)
n.1874C>T
c.8074C>T (p.Pro2692Ser)
2g.73490031delCA2577005008ALMS1c.7691del (p.Pro2564LeufsTer18)
c.1083del
c.5143del
c.2138del (p.Pro713LeufsTer18)
c.8072del (p.Pro2691LeufsTer18)
c.896-29744del
c.2903del (p.Pro968LeufsTer18)
c.7946del (p.Pro2649LeufsTer18)
n.1875del
c.8075del (p.Pro2692LeufsTer18)
 ClinVar
2g.73490031C>ACA50377970ALMS1c.7691C>A (p.Pro2564His)
c.1083C>A
c.5143C>A
c.2138C>A (p.Pro713His)
c.8072C>A (p.Pro2691His)
c.896-29744C>A
c.2903C>A (p.Pro968His)
c.7946C>A (p.Pro2649His)
n.1875C>A
c.8075C>A (p.Pro2692His)
 dbSNP
2g.73490031C=CA1260981303ALMS1c.7691C= (p.Pro2564=)
c.1083C=
c.5143C=
c.2138C= (p.Pro713=)
c.8072C= (p.Pro2691=)
c.896-29744C=
c.2903C= (p.Pro968=)
c.7946C= (p.Pro2649=)
n.1875C=
c.8075C= (p.Pro2692=)
2g.73490031C>GCA347267301ALMS1c.7691C>G (p.Pro2564Arg)
c.1083C>G
c.5143C>G
c.2138C>G (p.Pro713Arg)
c.8072C>G (p.Pro2691Arg)
c.896-29744C>G
c.2903C>G (p.Pro968Arg)
c.7946C>G (p.Pro2649Arg)
n.1875C>G
c.8075C>G (p.Pro2692Arg)
 dbSNP gnomAD v4
2g.73490031C>TCA347267299ALMS1c.7691C>T (p.Pro2564Leu)
c.1083C>T
c.5143C>T
c.2138C>T (p.Pro713Leu)
c.8072C>T (p.Pro2691Leu)
c.896-29744C>T
c.2903C>T (p.Pro968Leu)
c.7946C>T (p.Pro2649Leu)
n.1875C>T
c.8075C>T (p.Pro2692Leu)
 gnomAD v4
2g.73490032T>ACA427000772ALMS1c.7692T>A (p.Pro2564=)
c.1084T>A
c.5144T>A
c.2139T>A (p.Pro713=)
c.8073T>A (p.Pro2691=)
c.896-29743T>A
c.2904T>A (p.Pro968=)
c.7947T>A (p.Pro2649=)
n.1876T>A
c.8076T>A (p.Pro2692=)
2g.73490032T>CCA427000773ALMS1c.7692T>C (p.Pro2564=)
c.1084T>C
c.5144T>C
c.2139T>C (p.Pro713=)
c.8073T>C (p.Pro2691=)
c.896-29743T>C
c.2904T>C (p.Pro968=)
c.7947T>C (p.Pro2649=)
n.1876T>C
c.8076T>C (p.Pro2692=)
2g.73490032T>GCA427000774ALMS1c.7692T>G (p.Pro2564=)
c.1084T>G
c.5144T>G
c.2139T>G (p.Pro713=)
c.8073T>G (p.Pro2691=)
c.896-29743T>G
c.2904T>G (p.Pro968=)
c.7947T>G (p.Pro2649=)
n.1876T>G
c.8076T>G (p.Pro2692=)
2g.73490033A=CA1260981311ALMS1c.7693A= (p.Lys2565=)
c.1085A=
c.5145A=
c.2140A= (p.Lys714=)
c.8074A= (p.Lys2692=)
c.896-29742A=
c.2905A= (p.Lys969=)
c.7948A= (p.Lys2650=)
n.1877A=
c.8077A= (p.Lys2693=)
2g.73490033A>CCA347267302ALMS1c.7693A>C (p.Lys2565Gln)
c.1085A>C
c.5145A>C
c.2140A>C (p.Lys714Gln)
c.8074A>C (p.Lys2692Gln)
c.896-29742A>C
c.2905A>C (p.Lys969Gln)
c.7948A>C (p.Lys2650Gln)
n.1877A>C
c.8077A>C (p.Lys2693Gln)
2g.73490033A>GCA1714396ALMS1c.7693A>G (p.Lys2565Glu)
c.1085A>G
c.5145A>G
c.2140A>G (p.Lys714Glu)
c.8074A>G (p.Lys2692Glu)
c.896-29742A>G
c.2905A>G (p.Lys969Glu)
c.7948A>G (p.Lys2650Glu)
n.1877A>G
c.8077A>G (p.Lys2693Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490033A>TCA347267304ALMS1c.7693A>T (p.Lys2565Ter)
c.1085A>T
c.5145A>T
c.2140A>T (p.Lys714Ter)
c.8074A>T (p.Lys2692Ter)
c.896-29742A>T
c.2905A>T (p.Lys969Ter)
c.7948A>T (p.Lys2650Ter)
n.1877A>T
c.8077A>T (p.Lys2693Ter)
2g.73490033_73490036delinsAAAGCA1260981314ALMS1c.7693_7696delinsAAAG (p.Lys2565=)
c.1085_1088delinsAAAG
c.5145_5148delinsAAAG
c.2140_2143delinsAAAG (p.Lys714=)
c.8074_8077delinsAAAG (p.Lys2692=)
c.896-29742_896-29739delinsAAAG
c.2905_2908delinsAAAG (p.Lys969=)
c.7948_7951delinsAAAG (p.Lys2650=)
n.1877_1880delinsAAAG
c.8077_8080delinsAAAG (p.Lys2693=)
2g.73490035_73490038delCA913090802ALMS1c.7695_7698del (p.Glu2566TrpfsTer15)
c.1087_1090del
c.5147_5150del
c.2142_2145del (p.Glu715TrpfsTer15)
c.8076_8079del (p.Glu2693TrpfsTer15)
c.896-29740_896-29737del
c.2907_2910del (p.Glu970TrpfsTer15)
c.7950_7953del (p.Glu2651TrpfsTer15)
n.1879_1882del
c.8079_8082del (p.Glu2694TrpfsTer15)
2g.73490034A=CA1260981318ALMS1c.7694A= (p.Lys2565=)
c.1086A=
c.5146A=
c.2141A= (p.Lys714=)
c.8075A= (p.Lys2692=)
c.896-29741A=
c.2906A= (p.Lys969=)
c.7949A= (p.Lys2650=)
n.1878A=
c.8078A= (p.Lys2693=)
2g.73490034A>CCA347267307ALMS1c.7694A>C (p.Lys2565Thr)
c.1086A>C
c.5146A>C
c.2141A>C (p.Lys714Thr)
c.8075A>C (p.Lys2692Thr)
c.896-29741A>C
c.2906A>C (p.Lys969Thr)
c.7949A>C (p.Lys2650Thr)
n.1878A>C
c.8078A>C (p.Lys2693Thr)
2g.73490034A>GCA347267309ALMS1c.7694A>G (p.Lys2565Arg)
c.1086A>G
c.5146A>G
c.2141A>G (p.Lys714Arg)
c.8075A>G (p.Lys2692Arg)
c.896-29741A>G
c.2906A>G (p.Lys969Arg)
c.7949A>G (p.Lys2650Arg)
n.1878A>G
c.8078A>G (p.Lys2693Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.73490034A>TCA347267313ALMS1c.7694A>T (p.Lys2565Ile)
c.1086A>T
c.5146A>T
c.2141A>T (p.Lys714Ile)
c.8075A>T (p.Lys2692Ile)
c.896-29741A>T
c.2906A>T (p.Lys969Ile)
c.7949A>T (p.Lys2650Ile)
n.1878A>T
c.8078A>T (p.Lys2693Ile)
2g.73490037_73490039delCA658821973ALMS1c.7697_7699del (p.Glu2566del)
c.1089_1091del
c.5149_5151del
c.2144_2146del (p.Glu715del)
c.8078_8080del (p.Glu2693del)
c.896-29738_896-29736del
c.2909_2911del (p.Glu970del)
c.7952_7954del (p.Glu2651del)
n.1881_1883del
c.8081_8083del (p.Glu2694del)
 ClinVar dbSNP
2g.73490035A>CCA347267316ALMS1c.7695A>C (p.Lys2565Asn)
c.1087A>C
c.5147A>C
c.2142A>C (p.Lys714Asn)
c.8076A>C (p.Lys2692Asn)
c.896-29740A>C
c.2907A>C (p.Lys969Asn)
c.7950A>C (p.Lys2650Asn)
n.1879A>C
c.8079A>C (p.Lys2693Asn)
2g.73490035A>GCA427000775ALMS1c.7695A>G (p.Lys2565=)
c.1087A>G
c.5147A>G
c.2142A>G (p.Lys714=)
c.8076A>G (p.Lys2692=)
c.896-29740A>G
c.2907A>G (p.Lys969=)
c.7950A>G (p.Lys2650=)
n.1879A>G
c.8079A>G (p.Lys2693=)
2g.73490035A>TCA347267317ALMS1c.7695A>T (p.Lys2565Asn)
c.1087A>T
c.5147A>T
c.2142A>T (p.Lys714Asn)
c.8076A>T (p.Lys2692Asn)
c.896-29740A>T
c.2907A>T (p.Lys969Asn)
c.7950A>T (p.Lys2650Asn)
n.1879A>T
c.8079A>T (p.Lys2693Asn)
2g.73490036G>ACA347267320ALMS1c.7696G>A (p.Glu2566Lys)
c.1088G>A
c.5148G>A
c.2143G>A (p.Glu715Lys)
c.8077G>A (p.Glu2693Lys)
c.896-29739G>A
c.2908G>A (p.Glu970Lys)
c.7951G>A (p.Glu2651Lys)
n.1880G>A
c.8080G>A (p.Glu2694Lys)
2g.73490036G>CCA347267323ALMS1c.7696G>C (p.Glu2566Gln)
c.1088G>C
c.5148G>C
c.2143G>C (p.Glu715Gln)
c.8077G>C (p.Glu2693Gln)
c.896-29739G>C
c.2908G>C (p.Glu970Gln)
c.7951G>C (p.Glu2651Gln)
n.1880G>C
c.8080G>C (p.Glu2694Gln)
2g.73490036G=CA1260981325ALMS1c.7696G= (p.Glu2566=)
c.1088G=
c.5148G=
c.2143G= (p.Glu715=)
c.8077G= (p.Glu2693=)
c.896-29739G=
c.2908G= (p.Glu970=)
c.7951G= (p.Glu2651=)
n.1880G=
c.8080G= (p.Glu2694=)
2g.73490036G>TCA347267325ALMS1c.7696G>T (p.Glu2566Ter)
c.1088G>T
c.5148G>T
c.2143G>T (p.Glu715Ter)
c.8077G>T (p.Glu2693Ter)
c.896-29739G>T
c.2908G>T (p.Glu970Ter)
c.7951G>T (p.Glu2651Ter)
n.1880G>T
c.8080G>T (p.Glu2694Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73490037A=CA1260981328ALMS1c.7697A= (p.Glu2566=)
c.1089A=
c.5149A=
c.2144A= (p.Glu715=)
c.8078A= (p.Glu2693=)
c.896-29738A=
c.2909A= (p.Glu970=)
c.7952A= (p.Glu2651=)
n.1881A=
c.8081A= (p.Glu2694=)
2g.73490037A>CCA1714397ALMS1c.7697A>C (p.Glu2566Ala)
c.1089A>C
c.5149A>C
c.2144A>C (p.Glu715Ala)
c.8078A>C (p.Glu2693Ala)
c.896-29738A>C
c.2909A>C (p.Glu970Ala)
c.7952A>C (p.Glu2651Ala)
n.1881A>C
c.8081A>C (p.Glu2694Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490037A>GCA347267330ALMS1c.7697A>G (p.Glu2566Gly)
c.1089A>G
c.5149A>G
c.2144A>G (p.Glu715Gly)
c.8078A>G (p.Glu2693Gly)
c.896-29738A>G
c.2909A>G (p.Glu970Gly)
c.7952A>G (p.Glu2651Gly)
n.1881A>G
c.8081A>G (p.Glu2694Gly)
2g.73490037A>TCA347267328ALMS1c.7697A>T (p.Glu2566Val)
c.1089A>T
c.5149A>T
c.2144A>T (p.Glu715Val)
c.8078A>T (p.Glu2693Val)
c.896-29738A>T
c.2909A>T (p.Glu970Val)
c.7952A>T (p.Glu2651Val)
n.1881A>T
c.8081A>T (p.Glu2694Val)
2g.73490038A=CA1260981330ALMS1c.7698A= (p.Glu2566=)
c.1090A=
c.5150A=
c.2145A= (p.Glu715=)
c.8079A= (p.Glu2693=)
c.896-29737A=
c.2910A= (p.Glu970=)
c.7953A= (p.Glu2651=)
n.1882A=
c.8082A= (p.Glu2694=)
2g.73490038A>CCA347267332ALMS1c.7698A>C (p.Glu2566Asp)
c.1090A>C
c.5150A>C
c.2145A>C (p.Glu715Asp)
c.8079A>C (p.Glu2693Asp)
c.896-29737A>C
c.2910A>C (p.Glu970Asp)
c.7953A>C (p.Glu2651Asp)
n.1882A>C
c.8082A>C (p.Glu2694Asp)
2g.73490038A>GCA427000776ALMS1c.7698A>G (p.Glu2566=)
c.1090A>G
c.5150A>G
c.2145A>G (p.Glu715=)
c.8079A>G (p.Glu2693=)
c.896-29737A>G
c.2910A>G (p.Glu970=)
c.7953A>G (p.Glu2651=)
n.1882A>G
c.8082A>G (p.Glu2694=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73490038A>TCA347267334ALMS1c.7698A>T (p.Glu2566Asp)
c.1090A>T
c.5150A>T
c.2145A>T (p.Glu715Asp)
c.8079A>T (p.Glu2693Asp)
c.896-29737A>T
c.2910A>T (p.Glu970Asp)
c.7953A>T (p.Glu2651Asp)
n.1882A>T
c.8082A>T (p.Glu2694Asp)
2g.73490039G>ACA347267339ALMS1c.7699G>A (p.Val2567Met)
c.1091G>A
c.5151G>A
c.2146G>A (p.Val716Met)
c.8080G>A (p.Val2694Met)
c.896-29736G>A
c.2911G>A (p.Val971Met)
c.7954G>A (p.Val2652Met)
n.1883G>A
c.8083G>A (p.Val2695Met)
 gnomAD v4
2g.73490039G>CCA347267341ALMS1c.7699G>C (p.Val2567Leu)
c.1091G>C
c.5151G>C
c.2146G>C (p.Val716Leu)
c.8080G>C (p.Val2694Leu)
c.896-29736G>C
c.2911G>C (p.Val971Leu)
c.7954G>C (p.Val2652Leu)
n.1883G>C
c.8083G>C (p.Val2695Leu)
2g.73490039G>TCA347267342ALMS1c.7699G>T (p.Val2567Leu)
c.1091G>T
c.5151G>T
c.2146G>T (p.Val716Leu)
c.8080G>T (p.Val2694Leu)
c.896-29736G>T
c.2911G>T (p.Val971Leu)
c.7954G>T (p.Val2652Leu)
n.1883G>T
c.8083G>T (p.Val2695Leu)
2g.73490040T>ACA347267343ALMS1c.7700T>A (p.Val2567Glu)
c.1092T>A
c.5152T>A
c.2147T>A (p.Val716Glu)
c.8081T>A (p.Val2694Glu)
c.896-29735T>A
c.2912T>A (p.Val971Glu)
c.7955T>A (p.Val2652Glu)
n.1884T>A
c.8084T>A (p.Val2695Glu)
2g.73490040T>CCA347267344ALMS1c.7700T>C (p.Val2567Ala)
c.1092T>C
c.5152T>C
c.2147T>C (p.Val716Ala)
c.8081T>C (p.Val2694Ala)
c.896-29735T>C
c.2912T>C (p.Val971Ala)
c.7955T>C (p.Val2652Ala)
n.1884T>C
c.8084T>C (p.Val2695Ala)
2g.73490040T>GCA1714398ALMS1c.7700T>G (p.Val2567Gly)
c.1092T>G
c.5152T>G
c.2147T>G (p.Val716Gly)
c.8081T>G (p.Val2694Gly)
c.896-29735T>G
c.2912T>G (p.Val971Gly)
c.7955T>G (p.Val2652Gly)
n.1884T>G
c.8084T>G (p.Val2695Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490040T=CA1260981332ALMS1c.7700T= (p.Val2567=)
c.1092T=
c.5152T=
c.2147T= (p.Val716=)
c.8081T= (p.Val2694=)
c.896-29735T=
c.2912T= (p.Val971=)
c.7955T= (p.Val2652=)
n.1884T=
c.8084T= (p.Val2695=)
2g.73490041G>ACA427000777ALMS1c.7701G>A (p.Val2567=)
c.1093G>A
c.5153G>A
c.2148G>A (p.Val716=)
c.8082G>A (p.Val2694=)
c.896-29734G>A
c.2913G>A (p.Val971=)
c.7956G>A (p.Val2652=)
n.1885G>A
c.8085G>A (p.Val2695=)
 dbSNP
2g.73490041G>CCA427000778ALMS1c.7701G>C (p.Val2567=)
c.1093G>C
c.5153G>C
c.2148G>C (p.Val716=)
c.8082G>C (p.Val2694=)
c.896-29734G>C
c.2913G>C (p.Val971=)
c.7956G>C (p.Val2652=)
n.1885G>C
c.8085G>C (p.Val2695=)
2g.73490041G>TCA427000779ALMS1c.7701G>T (p.Val2567=)
c.1093G>T
c.5153G>T
c.2148G>T (p.Val716=)
c.8082G>T (p.Val2694=)
c.896-29734G>T
c.2913G>T (p.Val971=)
c.7956G>T (p.Val2652=)
n.1885G>T
c.8085G>T (p.Val2695=)
2g.73490042G>ACA347267348ALMS1c.7702G>A (p.Asp2568Asn)
c.1094G>A
c.5154G>A
c.2149G>A (p.Asp717Asn)
c.8083G>A (p.Asp2695Asn)
c.896-29733G>A
c.2914G>A (p.Asp972Asn)
c.7957G>A (p.Asp2653Asn)
n.1886G>A
c.8086G>A (p.Asp2696Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.73490042G>CCA347267349ALMS1c.7702G>C (p.Asp2568His)
c.1094G>C
c.5154G>C
c.2149G>C (p.Asp717His)
c.8083G>C (p.Asp2695His)
c.896-29733G>C
c.2914G>C (p.Asp972His)
c.7957G>C (p.Asp2653His)
n.1886G>C
c.8086G>C (p.Asp2696His)
2g.73490042G=CA1260981336ALMS1c.7702G= (p.Asp2568=)
c.1094G=
c.5154G=
c.2149G= (p.Asp717=)
c.8083G= (p.Asp2695=)
c.896-29733G=
c.2914G= (p.Asp972=)
c.7957G= (p.Asp2653=)
n.1886G=
c.8086G= (p.Asp2696=)
2g.73490042G>TCA347267353ALMS1c.7702G>T (p.Asp2568Tyr)
c.1094G>T
c.5154G>T
c.2149G>T (p.Asp717Tyr)
c.8083G>T (p.Asp2695Tyr)
c.896-29733G>T
c.2914G>T (p.Asp972Tyr)
c.7957G>T (p.Asp2653Tyr)
n.1886G>T
c.8086G>T (p.Asp2696Tyr)
2g.73490043A>CCA347267366ALMS1c.7703A>C (p.Asp2568Ala)
c.1095A>C
c.5155A>C
c.2150A>C (p.Asp717Ala)
c.8084A>C (p.Asp2695Ala)
c.896-29732A>C
c.2915A>C (p.Asp972Ala)
c.7958A>C (p.Asp2653Ala)
n.1887A>C
c.8087A>C (p.Asp2696Ala)
2g.73490043A>GCA347267365ALMS1c.7703A>G (p.Asp2568Gly)
c.1095A>G
c.5155A>G
c.2150A>G (p.Asp717Gly)
c.8084A>G (p.Asp2695Gly)
c.896-29732A>G
c.2915A>G (p.Asp972Gly)
c.7958A>G (p.Asp2653Gly)
n.1887A>G
c.8087A>G (p.Asp2696Gly)
2g.73490043A>TCA347267364ALMS1c.7703A>T (p.Asp2568Val)
c.1095A>T
c.5155A>T
c.2150A>T (p.Asp717Val)
c.8084A>T (p.Asp2695Val)
c.896-29732A>T
c.2915A>T (p.Asp972Val)
c.7958A>T (p.Asp2653Val)
n.1887A>T
c.8087A>T (p.Asp2696Val)
2g.73490044T>ACA347267369ALMS1c.7704T>A (p.Asp2568Glu)
c.1096T>A
c.5156T>A
c.2151T>A (p.Asp717Glu)
c.8085T>A (p.Asp2695Glu)
c.896-29731T>A
c.2916T>A (p.Asp972Glu)
c.7959T>A (p.Asp2653Glu)
n.1888T>A
c.8088T>A (p.Asp2696Glu)
2g.73490044T>CCA427000780ALMS1c.7704T>C (p.Asp2568=)
c.1096T>C
c.5156T>C
c.2151T>C (p.Asp717=)
c.8085T>C (p.Asp2695=)
c.896-29731T>C
c.2916T>C (p.Asp972=)
c.7959T>C (p.Asp2653=)
n.1888T>C
c.8088T>C (p.Asp2696=)
2g.73490044T>GCA347267370ALMS1c.7704T>G (p.Asp2568Glu)
c.1096T>G
c.5156T>G
c.2151T>G (p.Asp717Glu)
c.8085T>G (p.Asp2695Glu)
c.896-29731T>G
c.2916T>G (p.Asp972Glu)
c.7959T>G (p.Asp2653Glu)
n.1888T>G
c.8088T>G (p.Asp2696Glu)
2g.73490047dupCA2577005009ALMS1c.7707dup (p.His2570SerfsTer28)
c.1099dup
c.5159dup
c.2154dup (p.His719SerfsTer28)
c.8088dup (p.His2697SerfsTer28)
c.896-29728dup
c.2919dup (p.His974SerfsTer28)
c.7962dup (p.His2655SerfsTer28)
n.1891dup
c.8091dup (p.His2698SerfsTer28)
 gnomAD v4
2g.73490045T>ACA347267373ALMS1c.7705T>A (p.Phe2569Ile)
c.1097T>A
c.5157T>A
c.2152T>A (p.Phe718Ile)
c.8086T>A (p.Phe2696Ile)
c.896-29730T>A
c.2917T>A (p.Phe973Ile)
c.7960T>A (p.Phe2654Ile)
n.1889T>A
c.8089T>A (p.Phe2697Ile)
2g.73490045T>CCA347267376ALMS1c.7705T>C (p.Phe2569Leu)
c.1097T>C
c.5157T>C
c.2152T>C (p.Phe718Leu)
c.8086T>C (p.Phe2696Leu)
c.896-29730T>C
c.2917T>C (p.Phe973Leu)
c.7960T>C (p.Phe2654Leu)
n.1889T>C
c.8089T>C (p.Phe2697Leu)
2g.73490045T>GCA347267378ALMS1c.7705T>G (p.Phe2569Val)
c.1097T>G
c.5157T>G
c.2152T>G (p.Phe718Val)
c.8086T>G (p.Phe2696Val)
c.896-29730T>G
c.2917T>G (p.Phe973Val)
c.7960T>G (p.Phe2654Val)
n.1889T>G
c.8089T>G (p.Phe2697Val)
 gnomAD v4
2g.73490046T>ACA347267380ALMS1c.7706T>A (p.Phe2569Tyr)
c.1098T>A
c.5158T>A
c.2153T>A (p.Phe718Tyr)
c.8087T>A (p.Phe2696Tyr)
c.896-29729T>A
c.2918T>A (p.Phe973Tyr)
c.7961T>A (p.Phe2654Tyr)
n.1890T>A
c.8090T>A (p.Phe2697Tyr)
2g.73490046T>CCA347267386ALMS1c.7706T>C (p.Phe2569Ser)
c.1098T>C
c.5158T>C
c.2153T>C (p.Phe718Ser)
c.8087T>C (p.Phe2696Ser)
c.896-29729T>C
c.2918T>C (p.Phe973Ser)
c.7961T>C (p.Phe2654Ser)
n.1890T>C
c.8090T>C (p.Phe2697Ser)
2g.73490046T>GCA347267388ALMS1c.7706T>G (p.Phe2569Cys)
c.1098T>G
c.5158T>G
c.2153T>G (p.Phe718Cys)
c.8087T>G (p.Phe2696Cys)
c.896-29729T>G
c.2918T>G (p.Phe973Cys)
c.7961T>G (p.Phe2654Cys)
n.1890T>G
c.8090T>G (p.Phe2697Cys)
2g.73490047T>ACA347267390ALMS1c.7707T>A (p.Phe2569Leu)
c.1099T>A
c.5159T>A
c.2154T>A (p.Phe718Leu)
c.8088T>A (p.Phe2696Leu)
c.896-29728T>A
c.2919T>A (p.Phe973Leu)
c.7962T>A (p.Phe2654Leu)
n.1891T>A
c.8091T>A (p.Phe2697Leu)
2g.73490047T>CCA427000781ALMS1c.7707T>C (p.Phe2569=)
c.1099T>C
c.5159T>C
c.2154T>C (p.Phe718=)
c.8088T>C (p.Phe2696=)
c.896-29728T>C
c.2919T>C (p.Phe973=)
c.7962T>C (p.Phe2654=)
n.1891T>C
c.8091T>C (p.Phe2697=)
2g.73490047T>GCA347267393ALMS1c.7707T>G (p.Phe2569Leu)
c.1099T>G
c.5159T>G
c.2154T>G (p.Phe718Leu)
c.8088T>G (p.Phe2696Leu)
c.896-29728T>G
c.2919T>G (p.Phe973Leu)
c.7962T>G (p.Phe2654Leu)
n.1891T>G
c.8091T>G (p.Phe2697Leu)
2g.73490048C>ACA347267394ALMS1c.7708C>A (p.His2570Asn)
c.1100C>A
c.5160C>A
c.2155C>A (p.His719Asn)
c.8089C>A (p.His2697Asn)
c.896-29727C>A
c.2920C>A (p.His974Asn)
c.7963C>A (p.His2655Asn)
n.1892C>A
c.8092C>A (p.His2698Asn)
2g.73490048C=CA1260981339ALMS1c.7708C= (p.His2570=)
c.1100C=
c.5160C=
c.2155C= (p.His719=)
c.8089C= (p.His2697=)
c.896-29727C=
c.2920C= (p.His974=)
c.7963C= (p.His2655=)
n.1892C=
c.8092C= (p.His2698=)
2g.73490048C>GCA347267395ALMS1c.7708C>G (p.His2570Asp)
c.1100C>G
c.5160C>G
c.2155C>G (p.His719Asp)
c.8089C>G (p.His2697Asp)
c.896-29727C>G
c.2920C>G (p.His974Asp)
c.7963C>G (p.His2655Asp)
n.1892C>G
c.8092C>G (p.His2698Asp)
2g.73490048C>TCA50378010ALMS1c.7708C>T (p.His2570Tyr)
c.1100C>T
c.5160C>T
c.2155C>T (p.His719Tyr)
c.8089C>T (p.His2697Tyr)
c.896-29727C>T
c.2920C>T (p.His974Tyr)
c.7963C>T (p.His2655Tyr)
n.1892C>T
c.8092C>T (p.His2698Tyr)
 ClinVar dbSNP
2g.73490049A=CA1260981342ALMS1c.7709A= (p.His2570=)
c.1101A=
c.5161A=
c.2156A= (p.His719=)
c.8090A= (p.His2697=)
c.896-29726A=
c.2921A= (p.His974=)
c.7964A= (p.His2655=)
n.1893A=
c.8093A= (p.His2698=)
2g.73490049A>CCA1714399ALMS1c.7709A>C (p.His2570Pro)
c.1101A>C
c.5161A>C
c.2156A>C (p.His719Pro)
c.8090A>C (p.His2697Pro)
c.896-29726A>C
c.2921A>C (p.His974Pro)
c.7964A>C (p.His2655Pro)
n.1893A>C
c.8093A>C (p.His2698Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490049A>GCA347267397ALMS1c.7709A>G (p.His2570Arg)
c.1101A>G
c.5161A>G
c.2156A>G (p.His719Arg)
c.8090A>G (p.His2697Arg)
c.896-29726A>G
c.2921A>G (p.His974Arg)
c.7964A>G (p.His2655Arg)
n.1893A>G
c.8093A>G (p.His2698Arg)
2g.73490049A>TCA347267399ALMS1c.7709A>T (p.His2570Leu)
c.1101A>T
c.5161A>T
c.2156A>T (p.His719Leu)
c.8090A>T (p.His2697Leu)
c.896-29726A>T
c.2921A>T (p.His974Leu)
c.7964A>T (p.His2655Leu)
n.1893A>T
c.8093A>T (p.His2698Leu)
 gnomAD v4
2g.73490050T>ACA347267402ALMS1c.7710T>A (p.His2570Gln)
c.1102T>A
c.5162T>A
c.2157T>A (p.His719Gln)
c.8091T>A (p.His2697Gln)
c.896-29725T>A
c.2922T>A (p.His974Gln)
c.7965T>A (p.His2655Gln)
n.1894T>A
c.8094T>A (p.His2698Gln)
2g.73490050T>CCA427000782ALMS1c.7710T>C (p.His2570=)
c.1102T>C
c.5162T>C
c.2157T>C (p.His719=)
c.8091T>C (p.His2697=)
c.896-29725T>C
c.2922T>C (p.His974=)
c.7965T>C (p.His2655=)
n.1894T>C
c.8094T>C (p.His2698=)
2g.73490050T>GCA347267404ALMS1c.7710T>G (p.His2570Gln)
c.1102T>G
c.5162T>G
c.2157T>G (p.His719Gln)
c.8091T>G (p.His2697Gln)
c.896-29725T>G
c.2922T>G (p.His974Gln)
c.7965T>G (p.His2655Gln)
n.1894T>G
c.8094T>G (p.His2698Gln)
 gnomAD v4
2g.73490053_73490055delCA2659619850ALMS1c.7713_7715del (p.Ser2572del)
c.1105_1107del
c.5165_5167del
c.2160_2162del (p.Ser721del)
c.8094_8096del (p.Ser2699del)
c.896-29722_896-29720del
c.2925_2927del (p.Ser976del)
c.7968_7970del (p.Ser2657del)
n.1897_1899del
c.8097_8099del (p.Ser2700del)
 gnomAD v4
2g.73490051T>ACA347267406ALMS1c.7711T>A (p.Ser2571Thr)
c.1103T>A
c.5163T>A
c.2158T>A (p.Ser720Thr)
c.8092T>A (p.Ser2698Thr)
c.896-29724T>A
c.2923T>A (p.Ser975Thr)
c.7966T>A (p.Ser2656Thr)
n.1895T>A
c.8095T>A (p.Ser2699Thr)
2g.73490051T>CCA347267415ALMS1c.7711T>C (p.Ser2571Pro)
c.1103T>C
c.5163T>C
c.2158T>C (p.Ser720Pro)
c.8092T>C (p.Ser2698Pro)
c.896-29724T>C
c.2923T>C (p.Ser975Pro)
c.7966T>C (p.Ser2656Pro)
n.1895T>C
c.8095T>C (p.Ser2699Pro)
2g.73490051T>GCA347267416ALMS1c.7711T>G (p.Ser2571Ala)
c.1103T>G
c.5163T>G
c.2158T>G (p.Ser720Ala)
c.8092T>G (p.Ser2698Ala)
c.896-29724T>G
c.2923T>G (p.Ser975Ala)
c.7966T>G (p.Ser2656Ala)
n.1895T>G
c.8095T>G (p.Ser2699Ala)
2g.73490052C>ACA347267417ALMS1c.7712C>A (p.Ser2571Tyr)
c.1104C>A
c.5164C>A
c.2159C>A (p.Ser720Tyr)
c.8093C>A (p.Ser2698Tyr)
c.896-29723C>A
c.2924C>A (p.Ser975Tyr)
c.7967C>A (p.Ser2656Tyr)
n.1896C>A
c.8096C>A (p.Ser2699Tyr)
2g.73490052C>GCA347267418ALMS1c.7712C>G (p.Ser2571Cys)
c.1104C>G
c.5164C>G
c.2159C>G (p.Ser720Cys)
c.8093C>G (p.Ser2698Cys)
c.896-29723C>G
c.2924C>G (p.Ser975Cys)
c.7967C>G (p.Ser2656Cys)
n.1896C>G
c.8096C>G (p.Ser2699Cys)
2g.73490052C>TCA347267420ALMS1c.7712C>T (p.Ser2571Phe)
c.1104C>T
c.5164C>T
c.2159C>T (p.Ser720Phe)
c.8093C>T (p.Ser2698Phe)
c.896-29723C>T
c.2924C>T (p.Ser975Phe)
c.7967C>T (p.Ser2656Phe)
n.1896C>T
c.8096C>T (p.Ser2699Phe)
2g.73490053T>ACA427000793ALMS1c.7713T>A (p.Ser2571=)
c.1105T>A
c.5165T>A
c.2160T>A (p.Ser720=)
c.8094T>A (p.Ser2698=)
c.896-29722T>A
c.2925T>A (p.Ser975=)
c.7968T>A (p.Ser2656=)
n.1897T>A
c.8097T>A (p.Ser2699=)
2g.73490053T>CCA427000794ALMS1c.7713T>C (p.Ser2571=)
c.1105T>C
c.5165T>C
c.2160T>C (p.Ser720=)
c.8094T>C (p.Ser2698=)
c.896-29722T>C
c.2925T>C (p.Ser975=)
c.7968T>C (p.Ser2656=)
n.1897T>C
c.8097T>C (p.Ser2699=)
 gnomAD v4
2g.73490053T>GCA427000795ALMS1c.7713T>G (p.Ser2571=)
c.1105T>G
c.5165T>G
c.2160T>G (p.Ser720=)
c.8094T>G (p.Ser2698=)
c.896-29722T>G
c.2925T>G (p.Ser975=)
c.7968T>G (p.Ser2656=)
n.1897T>G
c.8097T>G (p.Ser2699=)
2g.73490054T>ACA347267422ALMS1c.7714T>A (p.Ser2572Thr)
c.1106T>A
c.5166T>A
c.2161T>A (p.Ser721Thr)
c.8095T>A (p.Ser2699Thr)
c.896-29721T>A
c.2926T>A (p.Ser976Thr)
c.7969T>A (p.Ser2657Thr)
n.1898T>A
c.8098T>A (p.Ser2700Thr)
2g.73490054T>CCA347267424ALMS1c.7714T>C (p.Ser2572Pro)
c.1106T>C
c.5166T>C
c.2161T>C (p.Ser721Pro)
c.8095T>C (p.Ser2699Pro)
c.896-29721T>C
c.2926T>C (p.Ser976Pro)
c.7969T>C (p.Ser2657Pro)
n.1898T>C
c.8098T>C (p.Ser2700Pro)
2g.73490054T>GCA347267426ALMS1c.7714T>G (p.Ser2572Ala)
c.1106T>G
c.5166T>G
c.2161T>G (p.Ser721Ala)
c.8095T>G (p.Ser2699Ala)
c.896-29721T>G
c.2926T>G (p.Ser976Ala)
c.7969T>G (p.Ser2657Ala)
n.1898T>G
c.8098T>G (p.Ser2700Ala)
2g.73490055C>ACA347267428ALMS1c.7715C>A (p.Ser2572Ter)
c.1107C>A
c.5167C>A
c.2162C>A (p.Ser721Ter)
c.8096C>A (p.Ser2699Ter)
c.896-29720C>A
c.2927C>A (p.Ser976Ter)
c.7970C>A (p.Ser2657Ter)
n.1899C>A
c.8099C>A (p.Ser2700Ter)
2g.73490055C=CA1260981346ALMS1c.7715C= (p.Ser2572=)
c.1107C=
c.5167C=
c.2162C= (p.Ser721=)
c.8096C= (p.Ser2699=)
c.896-29720C=
c.2927C= (p.Ser976=)
c.7970C= (p.Ser2657=)
n.1899C=
c.8099C= (p.Ser2700=)
2g.73490055C>GCA347267430ALMS1c.7715C>G (p.Ser2572Ter)
c.1107C>G
c.5167C>G
c.2162C>G (p.Ser721Ter)
c.8096C>G (p.Ser2699Ter)
c.896-29720C>G
c.2927C>G (p.Ser976Ter)
c.7970C>G (p.Ser2657Ter)
n.1899C>G
c.8099C>G (p.Ser2700Ter)
2g.73490055C>TCA1714400ALMS1c.7715C>T (p.Ser2572Leu)
c.1107C>T
c.5167C>T
c.2162C>T (p.Ser721Leu)
c.8096C>T (p.Ser2699Leu)
c.896-29720C>T
c.2927C>T (p.Ser976Leu)
c.7970C>T (p.Ser2657Leu)
n.1899C>T
c.8099C>T (p.Ser2700Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490056A>CCA427000803ALMS1c.7716A>C (p.Ser2572=)
c.1108A>C
c.5168A>C
c.2163A>C (p.Ser721=)
c.8097A>C (p.Ser2699=)
c.896-29719A>C
c.2928A>C (p.Ser976=)
c.7971A>C (p.Ser2657=)
n.1900A>C
c.8100A>C (p.Ser2700=)
 gnomAD v4
2g.73490056A>GCA427000805ALMS1c.7716A>G (p.Ser2572=)
c.1108A>G
c.5168A>G
c.2163A>G (p.Ser721=)
c.8097A>G (p.Ser2699=)
c.896-29719A>G
c.2928A>G (p.Ser976=)
c.7971A>G (p.Ser2657=)
n.1900A>G
c.8100A>G (p.Ser2700=)
 gnomAD v4
2g.73490056A>TCA427000807ALMS1c.7716A>T (p.Ser2572=)
c.1108A>T
c.5168A>T
c.2163A>T (p.Ser721=)
c.8097A>T (p.Ser2699=)
c.896-29719A>T
c.2928A>T (p.Ser976=)
c.7971A>T (p.Ser2657=)
n.1900A>T
c.8100A>T (p.Ser2700=)
2g.73490057T>ACA347267432ALMS1c.7717T>A (p.Ser2573Thr)
c.1109T>A
c.5169T>A
c.2164T>A (p.Ser722Thr)
c.8098T>A (p.Ser2700Thr)
c.896-29718T>A
c.2929T>A (p.Ser977Thr)
c.7972T>A (p.Ser2658Thr)
n.1901T>A
c.8101T>A (p.Ser2701Thr)
2g.73490057T>CCA347267434ALMS1c.7717T>C (p.Ser2573Pro)
c.1109T>C
c.5169T>C
c.2164T>C (p.Ser722Pro)
c.8098T>C (p.Ser2700Pro)
c.896-29718T>C
c.2929T>C (p.Ser977Pro)
c.7972T>C (p.Ser2658Pro)
n.1901T>C
c.8101T>C (p.Ser2701Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73490057T>GCA347267436ALMS1c.7717T>G (p.Ser2573Ala)
c.1109T>G
c.5169T>G
c.2164T>G (p.Ser722Ala)
c.8098T>G (p.Ser2700Ala)
c.896-29718T>G
c.2929T>G (p.Ser977Ala)
c.7972T>G (p.Ser2658Ala)
n.1901T>G
c.8101T>G (p.Ser2701Ala)
2g.73490057T=CA1260981351ALMS1c.7717T= (p.Ser2573=)
c.1109T=
c.5169T=
c.2164T= (p.Ser722=)
c.8098T= (p.Ser2700=)
c.896-29718T=
c.2929T= (p.Ser977=)
c.7972T= (p.Ser2658=)
n.1901T=
c.8101T= (p.Ser2701=)
2g.73490058C>ACA347267437ALMS1c.7718C>A (p.Ser2573Ter)
c.1110C>A
c.5170C>A
c.2165C>A (p.Ser722Ter)
c.8099C>A (p.Ser2700Ter)
c.896-29717C>A
c.2930C>A (p.Ser977Ter)
c.7973C>A (p.Ser2658Ter)
n.1902C>A
c.8102C>A (p.Ser2701Ter)
2g.73490058C=CA1260981353ALMS1c.7718C= (p.Ser2573=)
c.1110C=
c.5170C=
c.2165C= (p.Ser722=)
c.8099C= (p.Ser2700=)
c.896-29717C=
c.2930C= (p.Ser977=)
c.7973C= (p.Ser2658=)
n.1902C=
c.8102C= (p.Ser2701=)
2g.73490058C>GCA347267439ALMS1c.7718C>G (p.Ser2573Ter)
c.1110C>G
c.5170C>G
c.2165C>G (p.Ser722Ter)
c.8099C>G (p.Ser2700Ter)
c.896-29717C>G
c.2930C>G (p.Ser977Ter)
c.7973C>G (p.Ser2658Ter)
n.1902C>G
c.8102C>G (p.Ser2701Ter)
2g.73490058C>TCA347267441ALMS1c.7718C>T (p.Ser2573Leu)
c.1110C>T
c.5170C>T
c.2165C>T (p.Ser722Leu)
c.8099C>T (p.Ser2700Leu)
c.896-29717C>T
c.2930C>T (p.Ser977Leu)
c.7973C>T (p.Ser2658Leu)
n.1902C>T
c.8102C>T (p.Ser2701Leu)
 dbSNP gnomAD v4
2g.73490059A=CA1260981355ALMS1c.7719A= (p.Ser2573=)
c.1111A=
c.5171A=
c.2166A= (p.Ser722=)
c.8100A= (p.Ser2700=)
c.896-29716A=
c.2931A= (p.Ser977=)
c.7974A= (p.Ser2658=)
n.1903A=
c.8103A= (p.Ser2701=)
2g.73490059A>CCA427000813ALMS1c.7719A>C (p.Ser2573=)
c.1111A>C
c.5171A>C
c.2166A>C (p.Ser722=)
c.8100A>C (p.Ser2700=)
c.896-29716A>C
c.2931A>C (p.Ser977=)
c.7974A>C (p.Ser2658=)
n.1903A>C
c.8103A>C (p.Ser2701=)
2g.73490059A>GCA427000815ALMS1c.7719A>G (p.Ser2573=)
c.1111A>G
c.5171A>G
c.2166A>G (p.Ser722=)
c.8100A>G (p.Ser2700=)
c.896-29716A>G
c.2931A>G (p.Ser977=)
c.7974A>G (p.Ser2658=)
n.1903A>G
c.8103A>G (p.Ser2701=)
 dbSNP gnomAD v2 gnomAD v4
2g.73490059A>TCA427000816ALMS1c.7719A>T (p.Ser2573=)
c.1111A>T
c.5171A>T
c.2166A>T (p.Ser722=)
c.8100A>T (p.Ser2700=)
c.896-29716A>T
c.2931A>T (p.Ser977=)
c.7974A>T (p.Ser2658=)
n.1903A>T
c.8103A>T (p.Ser2701=)
2g.73490059_73490060delinsACCA1260981358ALMS1c.7719_7720delinsAC (p.Ser2573=)
c.1111_1112delinsAC
c.5171_5172delinsAC
c.2166_2167delinsAC (p.Ser722=)
c.8100_8101delinsAC (p.Ser2700=)
c.896-29716_896-29715delinsAC
c.2931_2932delinsAC (p.Ser977=)
c.7974_7975delinsAC (p.Ser2658=)
n.1903_1904delinsAC
c.8103_8104delinsAC (p.Ser2701=)
2g.73490060delCA892865923ALMS1c.7720del (p.Gln2574LysfsTer8)
c.1112del
c.5172del
c.2167del (p.Gln723LysfsTer8)
c.8101del (p.Gln2701LysfsTer8)
c.896-29715del
c.2932del (p.Gln978LysfsTer8)
c.7975del (p.Gln2659LysfsTer8)
n.1904del
c.8104del (p.Gln2702LysfsTer8)
 dbSNP gnomAD v3 gnomAD v4
2g.73490060C>ACA347267448ALMS1c.7720C>A (p.Gln2574Lys)
c.1112C>A
c.5172C>A
c.2167C>A (p.Gln723Lys)
c.8101C>A (p.Gln2701Lys)
c.896-29715C>A
c.2932C>A (p.Gln978Lys)
c.7975C>A (p.Gln2659Lys)
n.1904C>A
c.8104C>A (p.Gln2702Lys)
2g.73490060C>GCA347267444ALMS1c.7720C>G (p.Gln2574Glu)
c.1112C>G
c.5172C>G
c.2167C>G (p.Gln723Glu)
c.8101C>G (p.Gln2701Glu)
c.896-29715C>G
c.2932C>G (p.Gln978Glu)
c.7975C>G (p.Gln2659Glu)
n.1904C>G
c.8104C>G (p.Gln2702Glu)
2g.73490060C>TCA347267445ALMS1c.7720C>T (p.Gln2574Ter)
c.1112C>T
c.5172C>T
c.2167C>T (p.Gln723Ter)
c.8101C>T (p.Gln2701Ter)
c.896-29715C>T
c.2932C>T (p.Gln978Ter)
c.7975C>T (p.Gln2659Ter)
n.1904C>T
c.8104C>T (p.Gln2702Ter)
2g.73490061A=CA1260981363ALMS1c.7721A= (p.Gln2574=)
c.1113A=
c.5173A=
c.2168A= (p.Gln723=)
c.8102A= (p.Gln2701=)
c.896-29714A=
c.2933A= (p.Gln978=)
c.7976A= (p.Gln2659=)
n.1905A=
c.8105A= (p.Gln2702=)
2g.73490061A>CCA1714401ALMS1c.7721A>C (p.Gln2574Pro)
c.1113A>C
c.5173A>C
c.2168A>C (p.Gln723Pro)
c.8102A>C (p.Gln2701Pro)
c.896-29714A>C
c.2933A>C (p.Gln978Pro)
c.7976A>C (p.Gln2659Pro)
n.1905A>C
c.8105A>C (p.Gln2702Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490061A>GCA347267451ALMS1c.7721A>G (p.Gln2574Arg)
c.1113A>G
c.5173A>G
c.2168A>G (p.Gln723Arg)
c.8102A>G (p.Gln2701Arg)
c.896-29714A>G
c.2933A>G (p.Gln978Arg)
c.7976A>G (p.Gln2659Arg)
n.1905A>G
c.8105A>G (p.Gln2702Arg)
2g.73490061A>TCA347267453ALMS1c.7721A>T (p.Gln2574Leu)
c.1113A>T
c.5173A>T
c.2168A>T (p.Gln723Leu)
c.8102A>T (p.Gln2701Leu)
c.896-29714A>T
c.2933A>T (p.Gln978Leu)
c.7976A>T (p.Gln2659Leu)
n.1905A>T
c.8105A>T (p.Gln2702Leu)
2g.73490062A>CCA347267454ALMS1c.7722A>C (p.Gln2574His)
c.1114A>C
c.5174A>C
c.2169A>C (p.Gln723His)
c.8103A>C (p.Gln2701His)
c.896-29713A>C
c.2934A>C (p.Gln978His)
c.7977A>C (p.Gln2659His)
n.1906A>C
c.8106A>C (p.Gln2702His)
2g.73490062A>GCA427000824ALMS1c.7722A>G (p.Gln2574=)
c.1114A>G
c.5174A>G
c.2169A>G (p.Gln723=)
c.8103A>G (p.Gln2701=)
c.896-29713A>G
c.2934A>G (p.Gln978=)
c.7977A>G (p.Gln2659=)
n.1906A>G
c.8106A>G (p.Gln2702=)
2g.73490062A>TCA347267456ALMS1c.7722A>T (p.Gln2574His)
c.1114A>T
c.5174A>T
c.2169A>T (p.Gln723His)
c.8103A>T (p.Gln2701His)
c.896-29713A>T
c.2934A>T (p.Gln978His)
c.7977A>T (p.Gln2659His)
n.1906A>T
c.8106A>T (p.Gln2702His)
2g.73490063A>CCA347267457ALMS1c.7723A>C (p.Met2575Leu)
c.1115A>C
c.5175A>C
c.2170A>C (p.Met724Leu)
c.8104A>C (p.Met2702Leu)
c.896-29712A>C
c.2935A>C (p.Met979Leu)
c.7978A>C (p.Met2660Leu)
n.1907A>C
c.8107A>C (p.Met2703Leu)
2g.73490063A>GCA347267460ALMS1c.7723A>G (p.Met2575Val)
c.1115A>G
c.5175A>G
c.2170A>G (p.Met724Val)
c.8104A>G (p.Met2702Val)
c.896-29712A>G
c.2935A>G (p.Met979Val)
c.7978A>G (p.Met2660Val)
n.1907A>G
c.8107A>G (p.Met2703Val)
2g.73490063A>TCA347267458ALMS1c.7723A>T (p.Met2575Leu)
c.1115A>T
c.5175A>T
c.2170A>T (p.Met724Leu)
c.8104A>T (p.Met2702Leu)
c.896-29712A>T
c.2935A>T (p.Met979Leu)
c.7978A>T (p.Met2660Leu)
n.1907A>T
c.8107A>T (p.Met2703Leu)
2g.73490064T>ACA347267462ALMS1c.7724T>A (p.Met2575Lys)
c.1116T>A
c.5176T>A
c.2171T>A (p.Met724Lys)
c.8105T>A (p.Met2702Lys)
c.896-29711T>A
c.2936T>A (p.Met979Lys)
c.7979T>A (p.Met2660Lys)
n.1908T>A
c.8108T>A (p.Met2703Lys)
2g.73490064T>CCA347267465ALMS1c.7724T>C (p.Met2575Thr)
c.1116T>C
c.5176T>C
c.2171T>C (p.Met724Thr)
c.8105T>C (p.Met2702Thr)
c.896-29711T>C
c.2936T>C (p.Met979Thr)
c.7979T>C (p.Met2660Thr)
n.1908T>C
c.8108T>C (p.Met2703Thr)
2g.73490064T>GCA347267468ALMS1c.7724T>G (p.Met2575Arg)
c.1116T>G
c.5176T>G
c.2171T>G (p.Met724Arg)
c.8105T>G (p.Met2702Arg)
c.896-29711T>G
c.2936T>G (p.Met979Arg)
c.7979T>G (p.Met2660Arg)
n.1908T>G
c.8108T>G (p.Met2703Arg)
2g.73490065G>ACA347267469ALMS1c.7725G>A (p.Met2575Ile)
c.1117G>A
c.5177G>A
c.2172G>A (p.Met724Ile)
c.8106G>A (p.Met2702Ile)
c.896-29710G>A
c.2937G>A (p.Met979Ile)
c.7980G>A (p.Met2660Ile)
n.1909G>A
c.8109G>A (p.Met2703Ile)
2g.73490065G>CCA347267470ALMS1c.7725G>C (p.Met2575Ile)
c.1117G>C
c.5177G>C
c.2172G>C (p.Met724Ile)
c.8106G>C (p.Met2702Ile)
c.896-29710G>C
c.2937G>C (p.Met979Ile)
c.7980G>C (p.Met2660Ile)
n.1909G>C
c.8109G>C (p.Met2703Ile)
2g.73490065G>TCA347267471ALMS1c.7725G>T (p.Met2575Ile)
c.1117G>T
c.5177G>T
c.2172G>T (p.Met724Ile)
c.8106G>T (p.Met2702Ile)
c.896-29710G>T
c.2937G>T (p.Met979Ile)
c.7980G>T (p.Met2660Ile)
n.1909G>T
c.8109G>T (p.Met2703Ile)
2g.73490066C>ACA347267472ALMS1c.7726C>A (p.Pro2576Thr)
c.1118C>A
c.5178C>A
c.2173C>A (p.Pro725Thr)
c.8107C>A (p.Pro2703Thr)
c.896-29709C>A
c.2938C>A (p.Pro980Thr)
c.7981C>A (p.Pro2661Thr)
n.1910C>A
c.8110C>A (p.Pro2704Thr)
2g.73490066C>GCA347267474ALMS1c.7726C>G (p.Pro2576Ala)
c.1118C>G
c.5178C>G
c.2173C>G (p.Pro725Ala)
c.8107C>G (p.Pro2703Ala)
c.896-29709C>G
c.2938C>G (p.Pro980Ala)
c.7981C>G (p.Pro2661Ala)
n.1910C>G
c.8110C>G (p.Pro2704Ala)
2g.73490066C>TCA347267475ALMS1c.7726C>T (p.Pro2576Ser)
c.1118C>T
c.5178C>T
c.2173C>T (p.Pro725Ser)
c.8107C>T (p.Pro2703Ser)
c.896-29709C>T
c.2938C>T (p.Pro980Ser)
c.7981C>T (p.Pro2661Ser)
n.1910C>T
c.8110C>T (p.Pro2704Ser)
2g.73490067C>ACA347267476ALMS1c.7727C>A (p.Pro2576Gln)
c.1119C>A
c.5179C>A
c.2174C>A (p.Pro725Gln)
c.8108C>A (p.Pro2703Gln)
c.896-29708C>A
c.2939C>A (p.Pro980Gln)
c.7982C>A (p.Pro2661Gln)
n.1911C>A
c.8111C>A (p.Pro2704Gln)
 gnomAD v4
2g.73490067C=CA1260981369ALMS1c.7727C= (p.Pro2576=)
c.1119C=
c.5179C=
c.2174C= (p.Pro725=)
c.8108C= (p.Pro2703=)
c.896-29708C=
c.2939C= (p.Pro980=)
c.7982C= (p.Pro2661=)
n.1911C=
c.8111C= (p.Pro2704=)
2g.73490067C>GCA347267478ALMS1c.7727C>G (p.Pro2576Arg)
c.1119C>G
c.5179C>G
c.2174C>G (p.Pro725Arg)
c.8108C>G (p.Pro2703Arg)
c.896-29708C>G
c.2939C>G (p.Pro980Arg)
c.7982C>G (p.Pro2661Arg)
n.1911C>G
c.8111C>G (p.Pro2704Arg)
2g.73490067C>TCA1714402ALMS1c.7727C>T (p.Pro2576Leu)
c.1119C>T
c.5179C>T
c.2174C>T (p.Pro725Leu)
c.8108C>T (p.Pro2703Leu)
c.896-29708C>T
c.2939C>T (p.Pro980Leu)
c.7982C>T (p.Pro2661Leu)
n.1911C>T
c.8111C>T (p.Pro2704Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490068delCA2499216255ALMS1c.7728del (p.Ser2577ProfsTer5)
c.1120del
c.5180del
c.2175del (p.Ser726ProfsTer5)
c.8109del (p.Ser2704ProfsTer5)
c.896-29707del
c.2940del (p.Ser981ProfsTer5)
c.7983del (p.Ser2662ProfsTer5)
n.1912del
c.8112del (p.Ser2705ProfsTer5)
 ClinVar dbSNP
2g.73490068G>ACA1714403ALMS1c.7728G>A (p.Pro2576=)
c.1120G>A
c.5180G>A
c.2175G>A (p.Pro725=)
c.8109G>A (p.Pro2703=)
c.896-29707G>A
c.2940G>A (p.Pro980=)
c.7983G>A (p.Pro2661=)
n.1912G>A
c.8112G>A (p.Pro2704=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490068G>CCA427000831ALMS1c.7728G>C (p.Pro2576=)
c.1120G>C
c.5180G>C
c.2175G>C (p.Pro725=)
c.8109G>C (p.Pro2703=)
c.896-29707G>C
c.2940G>C (p.Pro980=)
c.7983G>C (p.Pro2661=)
n.1912G>C
c.8112G>C (p.Pro2704=)
2g.73490068G=CA1260981374ALMS1c.7728G= (p.Pro2576=)
c.1120G=
c.5180G=
c.2175G= (p.Pro725=)
c.8109G= (p.Pro2703=)
c.896-29707G=
c.2940G= (p.Pro980=)
c.7983G= (p.Pro2661=)
n.1912G=
c.8112G= (p.Pro2704=)
2g.73490068G>TCA1714404ALMS1c.7728G>T (p.Pro2576=)
c.1120G>T
c.5180G>T
c.2175G>T (p.Pro725=)
c.8109G>T (p.Pro2703=)
c.896-29707G>T
c.2940G>T (p.Pro980=)
c.7983G>T (p.Pro2661=)
n.1912G>T
c.8112G>T (p.Pro2704=)
 dbSNP ExAC gnomAD v2
2g.73490069T>ACA347267484ALMS1c.7729T>A (p.Ser2577Thr)
c.1121T>A
c.5181T>A
c.2176T>A (p.Ser726Thr)
c.8110T>A (p.Ser2704Thr)
c.896-29706T>A
c.2941T>A (p.Ser981Thr)
c.7984T>A (p.Ser2662Thr)
n.1913T>A
c.8113T>A (p.Ser2705Thr)
2g.73490069T>CCA347267489ALMS1c.7729T>C (p.Ser2577Pro)
c.1121T>C
c.5181T>C
c.2176T>C (p.Ser726Pro)
c.8110T>C (p.Ser2704Pro)
c.896-29706T>C
c.2941T>C (p.Ser981Pro)
c.7984T>C (p.Ser2662Pro)
n.1913T>C
c.8113T>C (p.Ser2705Pro)
2g.73490069T>GCA347267487ALMS1c.7729T>G (p.Ser2577Ala)
c.1121T>G
c.5181T>G
c.2176T>G (p.Ser726Ala)
c.8110T>G (p.Ser2704Ala)
c.896-29706T>G
c.2941T>G (p.Ser981Ala)
c.7984T>G (p.Ser2662Ala)
n.1913T>G
c.8113T>G (p.Ser2705Ala)
2g.73490070C>ACA347267495ALMS1c.7730C>A (p.Ser2577Tyr)
c.1122C>A
c.5182C>A
c.2177C>A (p.Ser726Tyr)
c.8111C>A (p.Ser2704Tyr)
c.896-29705C>A
c.2942C>A (p.Ser981Tyr)
c.7985C>A (p.Ser2662Tyr)
n.1914C>A
c.8114C>A (p.Ser2705Tyr)
 dbSNP
2g.73490070C=CA1260981381ALMS1c.7730C= (p.Ser2577=)
c.1122C=
c.5182C=
c.2177C= (p.Ser726=)
c.8111C= (p.Ser2704=)
c.896-29705C=
c.2942C= (p.Ser981=)
c.7985C= (p.Ser2662=)
n.1914C=
c.8114C= (p.Ser2705=)
2g.73490070C>GCA347267496ALMS1c.7730C>G (p.Ser2577Cys)
c.1122C>G
c.5182C>G
c.2177C>G (p.Ser726Cys)
c.8111C>G (p.Ser2704Cys)
c.896-29705C>G
c.2942C>G (p.Ser981Cys)
c.7985C>G (p.Ser2662Cys)
n.1914C>G
c.8114C>G (p.Ser2705Cys)
2g.73490070C>TCA1714405ALMS1c.7730C>T (p.Ser2577Phe)
c.1122C>T
c.5182C>T
c.2177C>T (p.Ser726Phe)
c.8111C>T (p.Ser2704Phe)
c.896-29705C>T
c.2942C>T (p.Ser981Phe)
c.7985C>T (p.Ser2662Phe)
n.1914C>T
c.8114C>T (p.Ser2705Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490071C>ACA427000841ALMS1c.7731C>A (p.Ser2577=)
c.1123C>A
c.5183C>A
c.2178C>A (p.Ser726=)
c.8112C>A (p.Ser2704=)
c.896-29704C>A
c.2943C>A (p.Ser981=)
c.7986C>A (p.Ser2662=)
n.1915C>A
c.8115C>A (p.Ser2705=)
2g.73490071C>GCA427000843ALMS1c.7731C>G (p.Ser2577=)
c.1123C>G
c.5183C>G
c.2178C>G (p.Ser726=)
c.8112C>G (p.Ser2704=)
c.896-29704C>G
c.2943C>G (p.Ser981=)
c.7986C>G (p.Ser2662=)
n.1915C>G
c.8115C>G (p.Ser2705=)
2g.73490071C>TCA427000840ALMS1c.7731C>T (p.Ser2577=)
c.1123C>T
c.5183C>T
c.2178C>T (p.Ser726=)
c.8112C>T (p.Ser2704=)
c.896-29704C>T
c.2943C>T (p.Ser981=)
c.7986C>T (p.Ser2662=)
n.1915C>T
c.8115C>T (p.Ser2705=)
2g.73490072C>ACA347267497ALMS1c.7732C>A (p.Pro2578Thr)
c.1124C>A
c.5184C>A
c.2179C>A (p.Pro727Thr)
c.8113C>A (p.Pro2705Thr)
c.896-29703C>A
c.2944C>A (p.Pro982Thr)
c.7987C>A (p.Pro2663Thr)
n.1916C>A
c.8116C>A (p.Pro2706Thr)
2g.73490072C=CA1260981388ALMS1c.7732C= (p.Pro2578=)
c.1124C=
c.5184C=
c.2179C= (p.Pro727=)
c.8113C= (p.Pro2705=)
c.896-29703C=
c.2944C= (p.Pro982=)
c.7987C= (p.Pro2663=)
n.1916C=
c.8116C= (p.Pro2706=)
2g.73490072C>GCA347267498ALMS1c.7732C>G (p.Pro2578Ala)
c.1124C>G
c.5184C>G
c.2179C>G (p.Pro727Ala)
c.8113C>G (p.Pro2705Ala)
c.896-29703C>G
c.2944C>G (p.Pro982Ala)
c.7987C>G (p.Pro2663Ala)
n.1916C>G
c.8116C>G (p.Pro2706Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.73490072C>TCA347267499ALMS1c.7732C>T (p.Pro2578Ser)
c.1124C>T
c.5184C>T
c.2179C>T (p.Pro727Ser)
c.8113C>T (p.Pro2705Ser)
c.896-29703C>T
c.2944C>T (p.Pro982Ser)
c.7987C>T (p.Pro2663Ser)
n.1916C>T
c.8116C>T (p.Pro2706Ser)
2g.73490073C>ACA347267500ALMS1c.7733C>A (p.Pro2578Gln)
c.1125C>A
c.5185C>A
c.2180C>A (p.Pro727Gln)
c.8114C>A (p.Pro2705Gln)
c.896-29702C>A
c.2945C>A (p.Pro982Gln)
c.7988C>A (p.Pro2663Gln)
n.1917C>A
c.8117C>A (p.Pro2706Gln)
2g.73490073C>GCA347267502ALMS1c.7733C>G (p.Pro2578Arg)
c.1125C>G
c.5185C>G
c.2180C>G (p.Pro727Arg)
c.8114C>G (p.Pro2705Arg)
c.896-29702C>G
c.2945C>G (p.Pro982Arg)
c.7988C>G (p.Pro2663Arg)
n.1917C>G
c.8117C>G (p.Pro2706Arg)
2g.73490073C>TCA347267503ALMS1c.7733C>T (p.Pro2578Leu)
c.1125C>T
c.5185C>T
c.2180C>T (p.Pro727Leu)
c.8114C>T (p.Pro2705Leu)
c.896-29702C>T
c.2945C>T (p.Pro982Leu)
c.7988C>T (p.Pro2663Leu)
n.1917C>T
c.8117C>T (p.Pro2706Leu)
 ClinVar
2g.73490074A>CCA427000853ALMS1c.7734A>C (p.Pro2578=)
c.1126A>C
c.5186A>C
c.2181A>C (p.Pro727=)
c.8115A>C (p.Pro2705=)
c.896-29701A>C
c.2946A>C (p.Pro982=)
c.7989A>C (p.Pro2663=)
n.1918A>C
c.8118A>C (p.Pro2706=)
2g.73490074A>GCA427000849ALMS1c.7734A>G (p.Pro2578=)
c.1126A>G
c.5186A>G
c.2181A>G (p.Pro727=)
c.8115A>G (p.Pro2705=)
c.896-29701A>G
c.2946A>G (p.Pro982=)
c.7989A>G (p.Pro2663=)
n.1918A>G
c.8118A>G (p.Pro2706=)
2g.73490074A>TCA427000847ALMS1c.7734A>T (p.Pro2578=)
c.1126A>T
c.5186A>T
c.2181A>T (p.Pro727=)
c.8115A>T (p.Pro2705=)
c.896-29701A>T
c.2946A>T (p.Pro982=)
c.7989A>T (p.Pro2663=)
n.1918A>T
c.8118A>T (p.Pro2706=)
2g.73490075G>ACA347267504ALMS1c.7735G>A (p.Glu2579Lys)
c.1127G>A
c.5187G>A
c.2182G>A (p.Glu728Lys)
c.8116G>A (p.Glu2706Lys)
c.896-29700G>A
c.2947G>A (p.Glu983Lys)
c.7990G>A (p.Glu2664Lys)
n.1919G>A
c.8119G>A (p.Glu2707Lys)
2g.73490075G>CCA347267506ALMS1c.7735G>C (p.Glu2579Gln)
c.1127G>C
c.5187G>C
c.2182G>C (p.Glu728Gln)
c.8116G>C (p.Glu2706Gln)
c.896-29700G>C
c.2947G>C (p.Glu983Gln)
c.7990G>C (p.Glu2664Gln)
n.1919G>C
c.8119G>C (p.Glu2707Gln)
2g.73490075G>TCA347267507ALMS1c.7735G>T (p.Glu2579Ter)
c.1127G>T
c.5187G>T
c.2182G>T (p.Glu728Ter)
c.8116G>T (p.Glu2706Ter)
c.896-29700G>T
c.2947G>T (p.Glu983Ter)
c.7990G>T (p.Glu2664Ter)
n.1919G>T
c.8119G>T (p.Glu2707Ter)
2g.73490075_73490077delinsGAACA1260981392ALMS1c.7735_7737delinsGAA (p.Glu2579=)
c.1127_1129delinsGAA
c.5187_5189delinsGAA
c.2182_2184delinsGAA (p.Glu728=)
c.8116_8118delinsGAA (p.Glu2706=)
c.896-29700_896-29698delinsGAA
c.2947_2949delinsGAA (p.Glu983=)
c.7990_7992delinsGAA (p.Glu2664=)
n.1919_1921delinsGAA
c.8119_8121delinsGAA (p.Glu2707=)
2g.73490076A=CA1260981398ALMS1c.7736A= (p.Glu2579=)
c.1128A=
c.5188A=
c.2183A= (p.Glu728=)
c.8117A= (p.Glu2706=)
c.896-29699A=
c.2948A= (p.Glu983=)
c.7991A= (p.Glu2664=)
n.1920A=
c.8120A= (p.Glu2707=)
2g.73490076A>CCA347267508ALMS1c.7736A>C (p.Glu2579Ala)
c.1128A>C
c.5188A>C
c.2183A>C (p.Glu728Ala)
c.8117A>C (p.Glu2706Ala)
c.896-29699A>C
c.2948A>C (p.Glu983Ala)
c.7991A>C (p.Glu2664Ala)
n.1920A>C
c.8120A>C (p.Glu2707Ala)
2g.73490076A>GCA1714406ALMS1c.7736A>G (p.Glu2579Gly)
c.1128A>G
c.5188A>G
c.2183A>G (p.Glu728Gly)
c.8117A>G (p.Glu2706Gly)
c.896-29699A>G
c.2948A>G (p.Glu983Gly)
c.7991A>G (p.Glu2664Gly)
n.1920A>G
c.8120A>G (p.Glu2707Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490076A>TCA347267510ALMS1c.7736A>T (p.Glu2579Val)
c.1128A>T
c.5188A>T
c.2183A>T (p.Glu728Val)
c.8117A>T (p.Glu2706Val)
c.896-29699A>T
c.2948A>T (p.Glu983Val)
c.7991A>T (p.Glu2664Val)
n.1920A>T
c.8120A>T (p.Glu2707Val)
2g.73490076_73490077delinsGCA915944024ALMS1c.7736_7737delinsG (p.Glu2579GlyfsTer3)
c.1128_1129delinsG
c.5188_5189delinsG
c.2183_2184delinsG (p.Glu728GlyfsTer3)
c.8117_8118delinsG (p.Glu2706GlyfsTer3)
c.896-29699_896-29698delinsG
c.2948_2949delinsG (p.Glu983GlyfsTer3)
c.7991_7992delinsG (p.Glu2664GlyfsTer3)
n.1920_1921delinsG
c.8120_8121delinsG (p.Glu2707GlyfsTer3)
 ClinVar dbSNP
2g.73490077delCA892865947ALMS1c.7737del (p.Glu2579AspfsTer3)
c.1129del
c.5189del
c.2184del (p.Glu728AspfsTer3)
c.8118del (p.Glu2706AspfsTer3)
c.896-29698del
c.2949del (p.Glu983AspfsTer3)
c.7992del (p.Glu2664AspfsTer3)
n.1921del
c.8121del (p.Glu2707AspfsTer3)
 dbSNP gnomAD v3 gnomAD v4
2g.73490077A=CA1260981410ALMS1c.7737A= (p.Glu2579=)
c.1129A=
c.5189A=
c.2184A= (p.Glu728=)
c.8118A= (p.Glu2706=)
c.896-29698A=
c.2949A= (p.Glu983=)
c.7992A= (p.Glu2664=)
n.1921A=
c.8121A= (p.Glu2707=)
2g.73490077A>CCA347267512ALMS1c.7737A>C (p.Glu2579Asp)
c.1129A>C
c.5189A>C
c.2184A>C (p.Glu728Asp)
c.8118A>C (p.Glu2706Asp)
c.896-29698A>C
c.2949A>C (p.Glu983Asp)
c.7992A>C (p.Glu2664Asp)
n.1921A>C
c.8121A>C (p.Glu2707Asp)
2g.73490077A>GCA427000864ALMS1c.7737A>G (p.Glu2579=)
c.1129A>G
c.5189A>G
c.2184A>G (p.Glu728=)
c.8118A>G (p.Glu2706=)
c.896-29698A>G
c.2949A>G (p.Glu983=)
c.7992A>G (p.Glu2664=)
n.1921A>G
c.8121A>G (p.Glu2707=)
 dbSNP gnomAD v3 gnomAD v4
2g.73490077A>TCA347267513ALMS1c.7737A>T (p.Glu2579Asp)
c.1129A>T
c.5189A>T
c.2184A>T (p.Glu728Asp)
c.8118A>T (p.Glu2706Asp)
c.896-29698A>T
c.2949A>T (p.Glu983Asp)
c.7992A>T (p.Glu2664Asp)
n.1921A>T
c.8121A>T (p.Glu2707Asp)
2g.73490078C>ACA347267515ALMS1c.7738C>A (p.Pro2580Thr)
c.1130C>A
c.5190C>A
c.2185C>A (p.Pro729Thr)
c.8119C>A (p.Pro2707Thr)
c.896-29697C>A
c.2950C>A (p.Pro984Thr)
c.7993C>A (p.Pro2665Thr)
n.1922C>A
c.8122C>A (p.Pro2708Thr)
2g.73490078C>GCA347267516ALMS1c.7738C>G (p.Pro2580Ala)
c.1130C>G
c.5190C>G
c.2185C>G (p.Pro729Ala)
c.8119C>G (p.Pro2707Ala)
c.896-29697C>G
c.2950C>G (p.Pro984Ala)
c.7993C>G (p.Pro2665Ala)
n.1922C>G
c.8122C>G (p.Pro2708Ala)
2g.73490078C>TCA347267518ALMS1c.7738C>T (p.Pro2580Ser)
c.1130C>T
c.5190C>T
c.2185C>T (p.Pro729Ser)
c.8119C>T (p.Pro2707Ser)
c.896-29697C>T
c.2950C>T (p.Pro984Ser)
c.7993C>T (p.Pro2665Ser)
n.1922C>T
c.8122C>T (p.Pro2708Ser)
2g.73490079C>ACA347267521ALMS1c.7739C>A (p.Pro2580His)
c.1131C>A
c.5191C>A
c.2186C>A (p.Pro729His)
c.8120C>A (p.Pro2707His)
c.896-29696C>A
c.2951C>A (p.Pro984His)
c.7994C>A (p.Pro2665His)
n.1923C>A
c.8123C>A (p.Pro2708His)
2g.73490079C>GCA347267523ALMS1c.7739C>G (p.Pro2580Arg)
c.1131C>G
c.5191C>G
c.2186C>G (p.Pro729Arg)
c.8120C>G (p.Pro2707Arg)
c.896-29696C>G
c.2951C>G (p.Pro984Arg)
c.7994C>G (p.Pro2665Arg)
n.1923C>G
c.8123C>G (p.Pro2708Arg)
2g.73490079C>TCA347267525ALMS1c.7739C>T (p.Pro2580Leu)
c.1131C>T
c.5191C>T
c.2186C>T (p.Pro729Leu)
c.8120C>T (p.Pro2707Leu)
c.896-29696C>T
c.2951C>T (p.Pro984Leu)
c.7994C>T (p.Pro2665Leu)
n.1923C>T
c.8123C>T (p.Pro2708Leu)
 gnomAD v4
2g.73490080C>ACA427000871ALMS1c.7740C>A (p.Pro2580=)
c.1132C>A
c.5192C>A
c.2187C>A (p.Pro729=)
c.8121C>A (p.Pro2707=)
c.896-29695C>A
c.2952C>A (p.Pro984=)
c.7995C>A (p.Pro2665=)
n.1924C>A
c.8124C>A (p.Pro2708=)
2g.73490080C>GCA427000872ALMS1c.7740C>G (p.Pro2580=)
c.1132C>G
c.5192C>G
c.2187C>G (p.Pro729=)
c.8121C>G (p.Pro2707=)
c.896-29695C>G
c.2952C>G (p.Pro984=)
c.7995C>G (p.Pro2665=)
n.1924C>G
c.8124C>G (p.Pro2708=)
2g.73490080C>TCA427000874ALMS1c.7740C>T (p.Pro2580=)
c.1132C>T
c.5192C>T
c.2187C>T (p.Pro729=)
c.8121C>T (p.Pro2707=)
c.896-29695C>T
c.2952C>T (p.Pro984=)
c.7995C>T (p.Pro2665=)
n.1924C>T
c.8124C>T (p.Pro2708=)
2g.73490081A=CA1260981418ALMS1c.7741A= (p.Met2581=)
c.1133A=
c.5193A=
c.2188A= (p.Met730=)
c.8122A= (p.Met2708=)
c.896-29694A=
c.2953A= (p.Met985=)
c.7996A= (p.Met2666=)
n.1925A=
c.8125A= (p.Met2709=)
2g.73490081A>CCA1714407ALMS1c.7741A>C (p.Met2581Leu)
c.1133A>C
c.5193A>C
c.2188A>C (p.Met730Leu)
c.8122A>C (p.Met2708Leu)
c.896-29694A>C
c.2953A>C (p.Met985Leu)
c.7996A>C (p.Met2666Leu)
n.1925A>C
c.8125A>C (p.Met2709Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490081A>GCA347267528ALMS1c.7741A>G (p.Met2581Val)
c.1133A>G
c.5193A>G
c.2188A>G (p.Met730Val)
c.8122A>G (p.Met2708Val)
c.896-29694A>G
c.2953A>G (p.Met985Val)
c.7996A>G (p.Met2666Val)
n.1925A>G
c.8125A>G (p.Met2709Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73490081A>TCA347267529ALMS1c.7741A>T (p.Met2581Leu)
c.1133A>T
c.5193A>T
c.2188A>T (p.Met730Leu)
c.8122A>T (p.Met2708Leu)
c.896-29694A>T
c.2953A>T (p.Met985Leu)
c.7996A>T (p.Met2666Leu)
n.1925A>T
c.8125A>T (p.Met2709Leu)
2g.73490082T>ACA347267531ALMS1c.7742T>A (p.Met2581Lys)
c.1134T>A
c.5194T>A
c.2189T>A (p.Met730Lys)
c.8123T>A (p.Met2708Lys)
c.896-29693T>A
c.2954T>A (p.Met985Lys)
c.7997T>A (p.Met2666Lys)
n.1926T>A
c.8126T>A (p.Met2709Lys)
 dbSNP
2g.73490082T>CCA347267533ALMS1c.7742T>C (p.Met2581Thr)
c.1134T>C
c.5194T>C
c.2189T>C (p.Met730Thr)
c.8123T>C (p.Met2708Thr)
c.896-29693T>C
c.2954T>C (p.Met985Thr)
c.7997T>C (p.Met2666Thr)
n.1926T>C
c.8126T>C (p.Met2709Thr)
2g.73490082T>GCA347267535ALMS1c.7742T>G (p.Met2581Arg)
c.1134T>G
c.5194T>G
c.2189T>G (p.Met730Arg)
c.8123T>G (p.Met2708Arg)
c.896-29693T>G
c.2954T>G (p.Met985Arg)
c.7997T>G (p.Met2666Arg)
n.1926T>G
c.8126T>G (p.Met2709Arg)
2g.73490082T=CA1260981423ALMS1c.7742T= (p.Met2581=)
c.1134T=
c.5194T=
c.2189T= (p.Met730=)
c.8123T= (p.Met2708=)
c.896-29693T=
c.2954T= (p.Met985=)
c.7997T= (p.Met2666=)
n.1926T=
c.8126T= (p.Met2709=)
2g.73490083G>ACA347267538ALMS1c.7743G>A (p.Met2581Ile)
c.1135G>A
c.5195G>A
c.2190G>A (p.Met730Ile)
c.8124G>A (p.Met2708Ile)
c.896-29692G>A
c.2955G>A (p.Met985Ile)
c.7998G>A (p.Met2666Ile)
n.1927G>A
c.8127G>A (p.Met2709Ile)
2g.73490083G>CCA347267541ALMS1c.7743G>C (p.Met2581Ile)
c.1135G>C
c.5195G>C
c.2190G>C (p.Met730Ile)
c.8124G>C (p.Met2708Ile)
c.896-29692G>C
c.2955G>C (p.Met985Ile)
c.7998G>C (p.Met2666Ile)
n.1927G>C
c.8127G>C (p.Met2709Ile)
2g.73490083G=CA1260981426ALMS1c.7743G= (p.Met2581=)
c.1135G=
c.5195G=
c.2190G= (p.Met730=)
c.8124G= (p.Met2708=)
c.896-29692G=
c.2955G= (p.Met985=)
c.7998G= (p.Met2666=)
n.1927G=
c.8127G= (p.Met2709=)
2g.73490083G>TCA50378083ALMS1c.7743G>T (p.Met2581Ile)
c.1135G>T
c.5195G>T
c.2190G>T (p.Met730Ile)
c.8124G>T (p.Met2708Ile)
c.896-29692G>T
c.2955G>T (p.Met985Ile)
c.7998G>T (p.Met2666Ile)
n.1927G>T
c.8127G>T (p.Met2709Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.73490084A=CA1260981429ALMS1c.7744A= (p.Lys2582=)
c.1136A=
c.5196A=
c.2191A= (p.Lys731=)
c.8125A= (p.Lys2709=)
c.896-29691A=
c.2956A= (p.Lys986=)
c.7999A= (p.Lys2667=)
n.1928A=
c.8128A= (p.Lys2710=)
2g.73490084A>CCA347267544ALMS1c.7744A>C (p.Lys2582Gln)
c.1136A>C
c.5196A>C
c.2191A>C (p.Lys731Gln)
c.8125A>C (p.Lys2709Gln)
c.896-29691A>C
c.2956A>C (p.Lys986Gln)
c.7999A>C (p.Lys2667Gln)
n.1928A>C
c.8128A>C (p.Lys2710Gln)
2g.73490084A>GCA50378087ALMS1c.7744A>G (p.Lys2582Glu)
c.1136A>G
c.5196A>G
c.2191A>G (p.Lys731Glu)
c.8125A>G (p.Lys2709Glu)
c.896-29691A>G
c.2956A>G (p.Lys986Glu)
c.7999A>G (p.Lys2667Glu)
n.1928A>G
c.8128A>G (p.Lys2710Glu)
 dbSNP
2g.73490084A>TCA347267545ALMS1c.7744A>T (p.Lys2582Ter)
c.1136A>T
c.5196A>T
c.2191A>T (p.Lys731Ter)
c.8125A>T (p.Lys2709Ter)
c.896-29691A>T
c.2956A>T (p.Lys986Ter)
c.7999A>T (p.Lys2667Ter)
n.1928A>T
c.8128A>T (p.Lys2710Ter)
2g.73490088delCA2580068233ALMS1c.7748del (p.Lys2583SerfsTer?)
c.1140del
c.5200del
c.2195del (p.Lys732SerfsTer?)
c.8129del (p.Lys2710SerfsTer?)
c.896-29687del
c.2960del (p.Lys987SerfsTer?)
c.8003del (p.Lys2668SerfsTer?)
n.1932del
c.8132del (p.Lys2711SerfsTer?)
 ClinVar
2g.73490085A=CA1260981431ALMS1c.7745A= (p.Lys2582=)
c.1137A=
c.5197A=
c.2192A= (p.Lys731=)
c.8126A= (p.Lys2709=)
c.896-29690A=
c.2957A= (p.Lys986=)
c.8000A= (p.Lys2667=)
n.1929A=
c.8129A= (p.Lys2710=)
2g.73490085A>CCA347267546ALMS1c.7745A>C (p.Lys2582Thr)
c.1137A>C
c.5197A>C
c.2192A>C (p.Lys731Thr)
c.8126A>C (p.Lys2709Thr)
c.896-29690A>C
c.2957A>C (p.Lys986Thr)
c.8000A>C (p.Lys2667Thr)
n.1929A>C
c.8129A>C (p.Lys2710Thr)
2g.73490085A>GCA1714408ALMS1c.7745A>G (p.Lys2582Arg)
c.1137A>G
c.5197A>G
c.2192A>G (p.Lys731Arg)
c.8126A>G (p.Lys2709Arg)
c.896-29690A>G
c.2957A>G (p.Lys986Arg)
c.8000A>G (p.Lys2667Arg)
n.1929A>G
c.8129A>G (p.Lys2710Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490085A>TCA347267547ALMS1c.7745A>T (p.Lys2582Ile)
c.1137A>T
c.5197A>T
c.2192A>T (p.Lys731Ile)
c.8126A>T (p.Lys2709Ile)
c.896-29690A>T
c.2957A>T (p.Lys986Ile)
c.8000A>T (p.Lys2667Ile)
n.1929A>T
c.8129A>T (p.Lys2710Ile)
2g.73490086A=CA1260981434ALMS1c.7746A= (p.Lys2582=)
c.1138A=
c.5198A=
c.2193A= (p.Lys731=)
c.8127A= (p.Lys2709=)
c.896-29689A=
c.2958A= (p.Lys986=)
c.8001A= (p.Lys2667=)
n.1930A=
c.8130A= (p.Lys2710=)
2g.73490086A>CCA347267550ALMS1c.7746A>C (p.Lys2582Asn)
c.1138A>C
c.5198A>C
c.2193A>C (p.Lys731Asn)
c.8127A>C (p.Lys2709Asn)
c.896-29689A>C
c.2958A>C (p.Lys986Asn)
c.8001A>C (p.Lys2667Asn)
n.1930A>C
c.8130A>C (p.Lys2710Asn)
2g.73490086A>GCA1714409ALMS1c.7746A>G (p.Lys2582=)
c.1138A>G
c.5198A>G
c.2193A>G (p.Lys731=)
c.8127A>G (p.Lys2709=)
c.896-29689A>G
c.2958A>G (p.Lys986=)
c.8001A>G (p.Lys2667=)
n.1930A>G
c.8130A>G (p.Lys2710=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490086A>TCA347267553ALMS1c.7746A>T (p.Lys2582Asn)
c.1138A>T
c.5198A>T
c.2193A>T (p.Lys731Asn)
c.8127A>T (p.Lys2709Asn)
c.896-29689A>T
c.2958A>T (p.Lys986Asn)
c.8001A>T (p.Lys2667Asn)
n.1930A>T
c.8130A>T (p.Lys2710Asn)
2g.73490087A>CCA347267554ALMS1c.7747A>C (p.Lys2583Gln)
c.1139A>C
c.5199A>C
c.2194A>C (p.Lys732Gln)
c.8128A>C (p.Lys2710Gln)
c.896-29688A>C
c.2959A>C (p.Lys987Gln)
c.8002A>C (p.Lys2668Gln)
n.1931A>C
c.8131A>C (p.Lys2711Gln)
2g.73490087A>GCA347267555ALMS1c.7747A>G (p.Lys2583Glu)
c.1139A>G
c.5199A>G
c.2194A>G (p.Lys732Glu)
c.8128A>G (p.Lys2710Glu)
c.896-29688A>G
c.2959A>G (p.Lys987Glu)
c.8002A>G (p.Lys2668Glu)
n.1931A>G
c.8131A>G (p.Lys2711Glu)
2g.73490087A>TCA347267557ALMS1c.7747A>T (p.Lys2583Ter)
c.1139A>T
c.5199A>T
c.2194A>T (p.Lys732Ter)
c.8128A>T (p.Lys2710Ter)
c.896-29688A>T
c.2959A>T (p.Lys987Ter)
c.8002A>T (p.Lys2668Ter)
n.1931A>T
c.8131A>T (p.Lys2711Ter)
2g.73490088A=CA1260981438ALMS1c.7748A= (p.Lys2583=)
c.1140A=
c.5200A=
c.2195A= (p.Lys732=)
c.8129A= (p.Lys2710=)
c.896-29687A=
c.2960A= (p.Lys987=)
c.8003A= (p.Lys2668=)
n.1932A=
c.8132A= (p.Lys2711=)
2g.73490088A>CCA347267562ALMS1c.7748A>C (p.Lys2583Thr)
c.1140A>C
c.5200A>C
c.2195A>C (p.Lys732Thr)
c.8129A>C (p.Lys2710Thr)
c.896-29687A>C
c.2960A>C (p.Lys987Thr)
c.8003A>C (p.Lys2668Thr)
n.1932A>C
c.8132A>C (p.Lys2711Thr)
2g.73490088A>GCA1714410ALMS1c.7748A>G (p.Lys2583Arg)
c.1140A>G
c.5200A>G
c.2195A>G (p.Lys732Arg)
c.8129A>G (p.Lys2710Arg)
c.896-29687A>G
c.2960A>G (p.Lys987Arg)
c.8003A>G (p.Lys2668Arg)
n.1932A>G
c.8132A>G (p.Lys2711Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490088A>TCA347267561ALMS1c.7748A>T (p.Lys2583Met)
c.1140A>T
c.5200A>T
c.2195A>T (p.Lys732Met)
c.8129A>T (p.Lys2710Met)
c.896-29687A>T
c.2960A>T (p.Lys987Met)
c.8003A>T (p.Lys2668Met)
n.1932A>T
c.8132A>T (p.Lys2711Met)
 gnomAD v4
2g.73490089G>ACA1714411ALMS1c.7749G>A (p.Lys2583=)
c.1141G>A
c.5201G>A
c.2196G>A (p.Lys732=)
c.8130G>A (p.Lys2710=)
c.896-29686G>A
c.2961G>A (p.Lys987=)
c.8004G>A (p.Lys2668=)
n.1933G>A
c.8133G>A (p.Lys2711=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490089G>CCA347267566ALMS1c.7749G>C (p.Lys2583Asn)
c.1141G>C
c.5201G>C
c.2196G>C (p.Lys732Asn)
c.8130G>C (p.Lys2710Asn)
c.896-29686G>C
c.2961G>C (p.Lys987Asn)
c.8004G>C (p.Lys2668Asn)
n.1933G>C
c.8133G>C (p.Lys2711Asn)
2g.73490089G=CA1260981445ALMS1c.7749G= (p.Lys2583=)
c.1141G=
c.5201G=
c.2196G= (p.Lys732=)
c.8130G= (p.Lys2710=)
c.896-29686G=
c.2961G= (p.Lys987=)
c.8004G= (p.Lys2668=)
n.1933G=
c.8133G= (p.Lys2711=)
2g.73490089G>TCA347267568ALMS1c.7749G>T (p.Lys2583Asn)
c.1141G>T
c.5201G>T
c.2196G>T (p.Lys732Asn)
c.8130G>T (p.Lys2710Asn)
c.896-29686G>T
c.2961G>T (p.Lys987Asn)
c.8004G>T (p.Lys2668Asn)
n.1933G>T
c.8133G>T (p.Lys2711Asn)
2g.73490089_73490090delCA913090804ALMS1c.7749_7750del (p.Lys2583AsnfsTer14)
c.1141_1142del
c.5201_5202del
c.2196_2197del (p.Lys732AsnfsTer14)
c.8130_8131del (p.Lys2710AsnfsTer14)
c.896-29686_896-29685del
c.2961_2962del (p.Lys987AsnfsTer14)
c.8004_8005del (p.Lys2668AsnfsTer14)
n.1933_1934del
c.8133_8134del (p.Lys2711AsnfsTer14)
2g.73490089_73490090delinsGTCA1260981444ALMS1c.7749_7750delinsGT (p.Lys2583=)
c.1141_1142delinsGT
c.5201_5202delinsGT
c.2196_2197delinsGT (p.Lys732=)
c.8130_8131delinsGT (p.Lys2710=)
c.896-29686_896-29685delinsGT
c.2961_2962delinsGT (p.Lys987=)
c.8004_8005delinsGT (p.Lys2668=)
n.1933_1934delinsGT
c.8133_8134delinsGT (p.Lys2711=)
2g.73490090T>ACA347267574ALMS1c.7750T>A (p.Phe2584Ile)
c.1142T>A
c.5202T>A
c.2197T>A (p.Phe733Ile)
c.8131T>A (p.Phe2711Ile)
c.896-29685T>A
c.2962T>A (p.Phe988Ile)
c.8005T>A (p.Phe2669Ile)
n.1934T>A
c.8134T>A (p.Phe2712Ile)
2g.73490090T>CCA50378099ALMS1c.7750T>C (p.Phe2584Leu)
c.1142T>C
c.5202T>C
c.2197T>C (p.Phe733Leu)
c.8131T>C (p.Phe2711Leu)
c.896-29685T>C
c.2962T>C (p.Phe988Leu)
c.8005T>C (p.Phe2669Leu)
n.1934T>C
c.8134T>C (p.Phe2712Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73490090T>GCA347267577ALMS1c.7750T>G (p.Phe2584Val)
c.1142T>G
c.5202T>G
c.2197T>G (p.Phe733Val)
c.8131T>G (p.Phe2711Val)
c.896-29685T>G
c.2962T>G (p.Phe988Val)
c.8005T>G (p.Phe2669Val)
n.1934T>G
c.8134T>G (p.Phe2712Val)
2g.73490090T=CA1260981452ALMS1c.7750T= (p.Phe2584=)
c.1142T=
c.5202T=
c.2197T= (p.Phe733=)
c.8131T= (p.Phe2711=)
c.896-29685T=
c.2962T= (p.Phe988=)
c.8005T= (p.Phe2669=)
n.1934T=
c.8134T= (p.Phe2712=)
2g.73490092dupCA2750465615ALMS1c.7752dup (p.Thr2585TyrfsTer13)
c.1144dup
c.5204dup
c.2199dup (p.Thr734TyrfsTer13)
c.8133dup (p.Thr2712TyrfsTer13)
c.896-29683dup
c.2964dup (p.Thr989TyrfsTer13)
c.8007dup (p.Thr2670TyrfsTer13)
n.1936dup
c.8136dup (p.Thr2713TyrfsTer13)
2g.73490092delCA658821974ALMS1c.7752del (p.Phe2584LeufsTer?)
c.1144del
c.5204del
c.2199del (p.Phe733LeufsTer?)
c.8133del (p.Phe2711LeufsTer?)
c.896-29683del
c.2964del (p.Phe988LeufsTer?)
c.8007del (p.Phe2669LeufsTer?)
n.1936del
c.8136del (p.Phe2712LeufsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73490091T>ACA347267580ALMS1c.7751T>A (p.Phe2584Tyr)
c.1143T>A
c.5203T>A
c.2198T>A (p.Phe733Tyr)
c.8132T>A (p.Phe2711Tyr)
c.896-29684T>A
c.2963T>A (p.Phe988Tyr)
c.8006T>A (p.Phe2669Tyr)
n.1935T>A
c.8135T>A (p.Phe2712Tyr)
 gnomAD v4
2g.73490091T>CCA347267581ALMS1c.7751T>C (p.Phe2584Ser)
c.1143T>C
c.5203T>C
c.2198T>C (p.Phe733Ser)
c.8132T>C (p.Phe2711Ser)
c.896-29684T>C
c.2963T>C (p.Phe988Ser)
c.8006T>C (p.Phe2669Ser)
n.1935T>C
c.8135T>C (p.Phe2712Ser)
2g.73490091T>GCA347267582ALMS1c.7751T>G (p.Phe2584Cys)
c.1143T>G
c.5203T>G
c.2198T>G (p.Phe733Cys)
c.8132T>G (p.Phe2711Cys)
c.896-29684T>G
c.2963T>G (p.Phe988Cys)
c.8006T>G (p.Phe2669Cys)
n.1935T>G
c.8135T>G (p.Phe2712Cys)
2g.73490092T>ACA347267583ALMS1c.7752T>A (p.Phe2584Leu)
c.1144T>A
c.5204T>A
c.2199T>A (p.Phe733Leu)
c.8133T>A (p.Phe2711Leu)
c.896-29683T>A
c.2964T>A (p.Phe988Leu)
c.8007T>A (p.Phe2669Leu)
n.1936T>A
c.8136T>A (p.Phe2712Leu)
2g.73490092T>CCA427000903ALMS1c.7752T>C (p.Phe2584=)
c.1144T>C
c.5204T>C
c.2199T>C (p.Phe733=)
c.8133T>C (p.Phe2711=)
c.896-29683T>C
c.2964T>C (p.Phe988=)
c.8007T>C (p.Phe2669=)
n.1936T>C
c.8136T>C (p.Phe2712=)
2g.73490092T>GCA347267584ALMS1c.7752T>G (p.Phe2584Leu)
c.1144T>G
c.5204T>G
c.2199T>G (p.Phe733Leu)
c.8133T>G (p.Phe2711Leu)
c.896-29683T>G
c.2964T>G (p.Phe988Leu)
c.8007T>G (p.Phe2669Leu)
n.1936T>G
c.8136T>G (p.Phe2712Leu)
2g.73490093A=CA1260981455ALMS1c.7753A= (p.Thr2585=)
c.1145A=
c.5205A=
c.2200A= (p.Thr734=)
c.8134A= (p.Thr2712=)
c.896-29682A=
c.2965A= (p.Thr989=)
c.8008A= (p.Thr2670=)
n.1937A=
c.8137A= (p.Thr2713=)
2g.73490093A>CCA347267588ALMS1c.7753A>C (p.Thr2585Pro)
c.1145A>C
c.5205A>C
c.2200A>C (p.Thr734Pro)
c.8134A>C (p.Thr2712Pro)
c.896-29682A>C
c.2965A>C (p.Thr989Pro)
c.8008A>C (p.Thr2670Pro)
n.1937A>C
c.8137A>C (p.Thr2713Pro)
2g.73490093A>GCA1714412ALMS1c.7753A>G (p.Thr2585Ala)
c.1145A>G
c.5205A>G
c.2200A>G (p.Thr734Ala)
c.8134A>G (p.Thr2712Ala)
c.896-29682A>G
c.2965A>G (p.Thr989Ala)
c.8008A>G (p.Thr2670Ala)
n.1937A>G
c.8137A>G (p.Thr2713Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490093A>TCA347267586ALMS1c.7753A>T (p.Thr2585Ser)
c.1145A>T
c.5205A>T
c.2200A>T (p.Thr734Ser)
c.8134A>T (p.Thr2712Ser)
c.896-29682A>T
c.2965A>T (p.Thr989Ser)
c.8008A>T (p.Thr2670Ser)
n.1937A>T
c.8137A>T (p.Thr2713Ser)
2g.73490094C>ACA347267603ALMS1c.7754C>A (p.Thr2585Asn)
c.1146C>A
c.5206C>A
c.2201C>A (p.Thr734Asn)
c.8135C>A (p.Thr2712Asn)
c.896-29681C>A
c.2966C>A (p.Thr989Asn)
c.8009C>A (p.Thr2670Asn)
n.1938C>A
c.8138C>A (p.Thr2713Asn)
2g.73490094C>GCA347267592ALMS1c.7754C>G (p.Thr2585Ser)
c.1146C>G
c.5206C>G
c.2201C>G (p.Thr734Ser)
c.8135C>G (p.Thr2712Ser)
c.896-29681C>G
c.2966C>G (p.Thr989Ser)
c.8009C>G (p.Thr2670Ser)
n.1938C>G
c.8138C>G (p.Thr2713Ser)
 dbSNP gnomAD v4
2g.73490094C>TCA347267600ALMS1c.7754C>T (p.Thr2585Ile)
c.1146C>T
c.5206C>T
c.2201C>T (p.Thr734Ile)
c.8135C>T (p.Thr2712Ile)
c.896-29681C>T
c.2966C>T (p.Thr989Ile)
c.8009C>T (p.Thr2670Ile)
n.1938C>T
c.8138C>T (p.Thr2713Ile)
 ClinVar
2g.73490095T>ACA427000911ALMS1c.7755T>A (p.Thr2585=)
c.1147T>A
c.5207T>A
c.2202T>A (p.Thr734=)
c.8136T>A (p.Thr2712=)
c.896-29680T>A
c.2967T>A (p.Thr989=)
c.8010T>A (p.Thr2670=)
n.1939T>A
c.8139T>A (p.Thr2713=)
 gnomAD v4
2g.73490095T>CCA427000913ALMS1c.7755T>C (p.Thr2585=)
c.1147T>C
c.5207T>C
c.2202T>C (p.Thr734=)
c.8136T>C (p.Thr2712=)
c.896-29680T>C
c.2967T>C (p.Thr989=)
c.8010T>C (p.Thr2670=)
n.1939T>C
c.8139T>C (p.Thr2713=)
2g.73490095T>GCA427000914ALMS1c.7755T>G (p.Thr2585=)
c.1147T>G
c.5207T>G
c.2202T>G (p.Thr734=)
c.8136T>G (p.Thr2712=)
c.896-29680T>G
c.2967T>G (p.Thr989=)
c.8010T>G (p.Thr2670=)
n.1939T>G
c.8139T>G (p.Thr2713=)
2g.73490096A=CA1260981458ALMS1c.7756A= (p.Thr2586=)
c.1148A=
c.5208A=
c.2203A= (p.Thr735=)
c.8137A= (p.Thr2713=)
c.896-29679A=
c.2968A= (p.Thr990=)
c.8011A= (p.Thr2671=)
n.1940A=
c.8140A= (p.Thr2714=)
2g.73490096A>CCA347267607ALMS1c.7756A>C (p.Thr2586Pro)
c.1148A>C
c.5208A>C
c.2203A>C (p.Thr735Pro)
c.8137A>C (p.Thr2713Pro)
c.896-29679A>C
c.2968A>C (p.Thr990Pro)
c.8011A>C (p.Thr2671Pro)
n.1940A>C
c.8140A>C (p.Thr2714Pro)
2g.73490096A>GCA1714413ALMS1c.7756A>G (p.Thr2586Ala)
c.1148A>G
c.5208A>G
c.2203A>G (p.Thr735Ala)
c.8137A>G (p.Thr2713Ala)
c.896-29679A>G
c.2968A>G (p.Thr990Ala)
c.8011A>G (p.Thr2671Ala)
n.1940A>G
c.8140A>G (p.Thr2714Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490096A>TCA347267621ALMS1c.7756A>T (p.Thr2586Ser)
c.1148A>T
c.5208A>T
c.2203A>T (p.Thr735Ser)
c.8137A>T (p.Thr2713Ser)
c.896-29679A>T
c.2968A>T (p.Thr990Ser)
c.8011A>T (p.Thr2671Ser)
n.1940A>T
c.8140A>T (p.Thr2714Ser)
2g.73490098_73490106delCA913090805ALMS1c.7758_7766del (p.Ser2587_Thr2589del)
c.1150_1158del
c.5210_5218del
c.2205_2213del (p.Ser736_Thr738del)
c.8139_8147del (p.Ser2714_Thr2716del)
c.896-29677_896-29669del
c.2970_2978del (p.Ser991_Thr993del)
c.8013_8021del (p.Ser2672_Thr2674del)
n.1942_1950del
c.8142_8150del (p.Ser2715_Thr2717del)
2g.73490097C>ACA347267628ALMS1c.7757C>A (p.Thr2586Asn)
c.1149C>A
c.5209C>A
c.2204C>A (p.Thr735Asn)
c.8138C>A (p.Thr2713Asn)
c.896-29678C>A
c.2969C>A (p.Thr990Asn)
c.8012C>A (p.Thr2671Asn)
n.1941C>A
c.8141C>A (p.Thr2714Asn)
2g.73490097C=CA1260981463ALMS1c.7757C= (p.Thr2586=)
c.1149C=
c.5209C=
c.2204C= (p.Thr735=)
c.8138C= (p.Thr2713=)
c.896-29678C=
c.2969C= (p.Thr990=)
c.8012C= (p.Thr2671=)
n.1941C=
c.8141C= (p.Thr2714=)
2g.73490097C>GCA347267627ALMS1c.7757C>G (p.Thr2586Ser)
c.1149C>G
c.5209C>G
c.2204C>G (p.Thr735Ser)
c.8138C>G (p.Thr2713Ser)
c.896-29678C>G
c.2969C>G (p.Thr990Ser)
c.8012C>G (p.Thr2671Ser)
n.1941C>G
c.8141C>G (p.Thr2714Ser)
2g.73490097C>TCA347267624ALMS1c.7757C>T (p.Thr2586Ile)
c.1149C>T
c.5209C>T
c.2204C>T (p.Thr735Ile)
c.8138C>T (p.Thr2713Ile)
c.896-29678C>T
c.2969C>T (p.Thr990Ile)
c.8012C>T (p.Thr2671Ile)
n.1941C>T
c.8141C>T (p.Thr2714Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73490097_73490105delinsCCTCCATCACA1260981461ALMS1c.7757_7765delinsCCTCCATCA (p.Thr2586=)
c.1149_1157delinsCCTCCATCA
c.5209_5217delinsCCTCCATCA
c.2204_2212delinsCCTCCATCA (p.Thr735=)
c.8138_8146delinsCCTCCATCA (p.Thr2713=)
c.896-29678_896-29670delinsCCTCCATCA
c.2969_2977delinsCCTCCATCA (p.Thr990=)
c.8012_8020delinsCCTCCATCA (p.Thr2671=)
n.1941_1949delinsCCTCCATCA
c.8141_8149delinsCCTCCATCA (p.Thr2714=)
2g.73490098C>ACA427000922ALMS1c.7758C>A (p.Thr2586=)
c.1150C>A
c.5210C>A
c.2205C>A (p.Thr735=)
c.8139C>A (p.Thr2713=)
c.896-29677C>A
c.2970C>A (p.Thr990=)
c.8013C>A (p.Thr2671=)
n.1942C>A
c.8142C>A (p.Thr2714=)
2g.73490098C>GCA427000920ALMS1c.7758C>G (p.Thr2586=)
c.1150C>G
c.5210C>G
c.2205C>G (p.Thr735=)
c.8139C>G (p.Thr2713=)
c.896-29677C>G
c.2970C>G (p.Thr990=)
c.8013C>G (p.Thr2671=)
n.1942C>G
c.8142C>G (p.Thr2714=)
2g.73490098C>TCA427000921ALMS1c.7758C>T (p.Thr2586=)
c.1150C>T
c.5210C>T
c.2205C>T (p.Thr735=)
c.8139C>T (p.Thr2713=)
c.896-29677C>T
c.2970C>T (p.Thr990=)
c.8013C>T (p.Thr2671=)
n.1942C>T
c.8142C>T (p.Thr2714=)
 ClinVar dbSNP
2g.73490100_73490107delCA658821975ALMS1c.7760_7767del (p.Ser2587PhefsTer8)
c.1152_1159del
c.5212_5219del
c.2207_2214del (p.Ser736PhefsTer8)
c.8141_8148del (p.Ser2714PhefsTer8)
c.896-29675_896-29668del
c.2972_2979del (p.Ser991PhefsTer8)
c.8015_8022del (p.Ser2672PhefsTer8)
n.1944_1951del
c.8144_8151del (p.Ser2715PhefsTer8)
 ClinVar dbSNP
2g.73490099T>ACA347267631ALMS1c.7759T>A (p.Ser2587Thr)
c.1151T>A
c.5211T>A
c.2206T>A (p.Ser736Thr)
c.8140T>A (p.Ser2714Thr)
c.896-29676T>A
c.2971T>A (p.Ser991Thr)
c.8014T>A (p.Ser2672Thr)
n.1943T>A
c.8143T>A (p.Ser2715Thr)
 gnomAD v4
2g.73490099T>CCA347267633ALMS1c.7759T>C (p.Ser2587Pro)
c.1151T>C
c.5211T>C
c.2206T>C (p.Ser736Pro)
c.8140T>C (p.Ser2714Pro)
c.896-29676T>C
c.2971T>C (p.Ser991Pro)
c.8014T>C (p.Ser2672Pro)
n.1943T>C
c.8143T>C (p.Ser2715Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73490099T>GCA347267635ALMS1c.7759T>G (p.Ser2587Ala)
c.1151T>G
c.5211T>G
c.2206T>G (p.Ser736Ala)
c.8140T>G (p.Ser2714Ala)
c.896-29676T>G
c.2971T>G (p.Ser991Ala)
c.8014T>G (p.Ser2672Ala)
n.1943T>G
c.8143T>G (p.Ser2715Ala)
2g.73490099T=CA1260981470ALMS1c.7759T= (p.Ser2587=)
c.1151T=
c.5211T=
c.2206T= (p.Ser736=)
c.8140T= (p.Ser2714=)
c.896-29676T=
c.2971T= (p.Ser991=)
c.8014T= (p.Ser2672=)
n.1943T=
c.8143T= (p.Ser2715=)
2g.73490100C>ACA347267637ALMS1c.7760C>A (p.Ser2587Tyr)
c.1152C>A
c.5212C>A
c.2207C>A (p.Ser736Tyr)
c.8141C>A (p.Ser2714Tyr)
c.896-29675C>A
c.2972C>A (p.Ser991Tyr)
c.8015C>A (p.Ser2672Tyr)
n.1944C>A
c.8144C>A (p.Ser2715Tyr)
2g.73490100C>GCA347267640ALMS1c.7760C>G (p.Ser2587Cys)
c.1152C>G
c.5212C>G
c.2207C>G (p.Ser736Cys)
c.8141C>G (p.Ser2714Cys)
c.896-29675C>G
c.2972C>G (p.Ser991Cys)
c.8015C>G (p.Ser2672Cys)
n.1944C>G
c.8144C>G (p.Ser2715Cys)
2g.73490100C>TCA347267642ALMS1c.7760C>T (p.Ser2587Phe)
c.1152C>T
c.5212C>T
c.2207C>T (p.Ser736Phe)
c.8141C>T (p.Ser2714Phe)
c.896-29675C>T
c.2972C>T (p.Ser991Phe)
c.8015C>T (p.Ser2672Phe)
n.1944C>T
c.8144C>T (p.Ser2715Phe)
2g.73490101C>ACA427000943ALMS1c.7761C>A (p.Ser2587=)
c.1153C>A
c.5213C>A
c.2208C>A (p.Ser736=)
c.8142C>A (p.Ser2714=)
c.896-29674C>A
c.2973C>A (p.Ser991=)
c.8016C>A (p.Ser2672=)
n.1945C>A
c.8145C>A (p.Ser2715=)
2g.73490101C=CA1260981474ALMS1c.7761C= (p.Ser2587=)
c.1153C=
c.5213C=
c.2208C= (p.Ser736=)
c.8142C= (p.Ser2714=)
c.896-29674C=
c.2973C= (p.Ser991=)
c.8016C= (p.Ser2672=)
n.1945C=
c.8145C= (p.Ser2715=)
2g.73490101C>GCA427000944ALMS1c.7761C>G (p.Ser2587=)
c.1153C>G
c.5213C>G
c.2208C>G (p.Ser736=)
c.8142C>G (p.Ser2714=)
c.896-29674C>G
c.2973C>G (p.Ser991=)
c.8016C>G (p.Ser2672=)
n.1945C>G
c.8145C>G (p.Ser2715=)
 dbSNP
2g.73490101C>TCA427000946ALMS1c.7761C>T (p.Ser2587=)
c.1153C>T
c.5213C>T
c.2208C>T (p.Ser736=)
c.8142C>T (p.Ser2714=)
c.896-29674C>T
c.2973C>T (p.Ser991=)
c.8016C>T (p.Ser2672=)
n.1945C>T
c.8145C>T (p.Ser2715=)
 ClinVar dbSNP gnomAD v4
2g.73490102A=CA1260981479ALMS1c.7762A= (p.Ile2588=)
c.1154A=
c.5214A=
c.2209A= (p.Ile737=)
c.8143A= (p.Ile2715=)
c.896-29673A=
c.2974A= (p.Ile992=)
c.8017A= (p.Ile2673=)
n.1946A=
c.8146A= (p.Ile2716=)
2g.73490102A>CCA347267644ALMS1c.7762A>C (p.Ile2588Leu)
c.1154A>C
c.5214A>C
c.2209A>C (p.Ile737Leu)
c.8143A>C (p.Ile2715Leu)
c.896-29673A>C
c.2974A>C (p.Ile992Leu)
c.8017A>C (p.Ile2673Leu)
n.1946A>C
c.8146A>C (p.Ile2716Leu)
2g.73490102A>GCA1714414ALMS1c.7762A>G (p.Ile2588Val)
c.1154A>G
c.5214A>G
c.2209A>G (p.Ile737Val)
c.8143A>G (p.Ile2715Val)
c.896-29673A>G
c.2974A>G (p.Ile992Val)
c.8017A>G (p.Ile2673Val)
n.1946A>G
c.8146A>G (p.Ile2716Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490102A>TCA347267643ALMS1c.7762A>T (p.Ile2588Phe)
c.1154A>T
c.5214A>T
c.2209A>T (p.Ile737Phe)
c.8143A>T (p.Ile2715Phe)
c.896-29673A>T
c.2974A>T (p.Ile992Phe)
c.8017A>T (p.Ile2673Phe)
n.1946A>T
c.8146A>T (p.Ile2716Phe)
 gnomAD v4
2g.73490103T>ACA347267647ALMS1c.7763T>A (p.Ile2588Asn)
c.1155T>A
c.5215T>A
c.2210T>A (p.Ile737Asn)
c.8144T>A (p.Ile2715Asn)
c.896-29672T>A
c.2975T>A (p.Ile992Asn)
c.8018T>A (p.Ile2673Asn)
n.1947T>A
c.8147T>A (p.Ile2716Asn)
2g.73490103T>CCA347267650ALMS1c.7763T>C (p.Ile2588Thr)
c.1155T>C
c.5215T>C
c.2210T>C (p.Ile737Thr)
c.8144T>C (p.Ile2715Thr)
c.896-29672T>C
c.2975T>C (p.Ile992Thr)
c.8018T>C (p.Ile2673Thr)
n.1947T>C
c.8147T>C (p.Ile2716Thr)
2g.73490103T>GCA347267651ALMS1c.7763T>G (p.Ile2588Ser)
c.1155T>G
c.5215T>G
c.2210T>G (p.Ile737Ser)
c.8144T>G (p.Ile2715Ser)
c.896-29672T>G
c.2975T>G (p.Ile992Ser)
c.8018T>G (p.Ile2673Ser)
n.1947T>G
c.8147T>G (p.Ile2716Ser)
2g.73490104C>ACA427000954ALMS1c.7764C>A (p.Ile2588=)
c.1156C>A
c.5216C>A
c.2211C>A (p.Ile737=)
c.8145C>A (p.Ile2715=)
c.896-29671C>A
c.2976C>A (p.Ile992=)
c.8019C>A (p.Ile2673=)
n.1948C>A
c.8148C>A (p.Ile2716=)
2g.73490104C>GCA347267653ALMS1c.7764C>G (p.Ile2588Met)
c.1156C>G
c.5216C>G
c.2211C>G (p.Ile737Met)
c.8145C>G (p.Ile2715Met)
c.896-29671C>G
c.2976C>G (p.Ile992Met)
c.8019C>G (p.Ile2673Met)
n.1948C>G
c.8148C>G (p.Ile2716Met)
2g.73490104C>TCA427000953ALMS1c.7764C>T (p.Ile2588=)
c.1156C>T
c.5216C>T
c.2211C>T (p.Ile737=)
c.8145C>T (p.Ile2715=)
c.896-29671C>T
c.2976C>T (p.Ile992=)
c.8019C>T (p.Ile2673=)
n.1948C>T
c.8148C>T (p.Ile2716=)
2g.73490105A=CA1260981484ALMS1c.7765A= (p.Thr2589=)
c.1157A=
c.5217A=
c.2212A= (p.Thr738=)
c.8146A= (p.Thr2716=)
c.896-29670A=
c.2977A= (p.Thr993=)
c.8020A= (p.Thr2674=)
n.1949A=
c.8149A= (p.Thr2717=)
2g.73490105A>CCA347267655ALMS1c.7765A>C (p.Thr2589Pro)
c.1157A>C
c.5217A>C
c.2212A>C (p.Thr738Pro)
c.8146A>C (p.Thr2716Pro)
c.896-29670A>C
c.2977A>C (p.Thr993Pro)
c.8020A>C (p.Thr2674Pro)
n.1949A>C
c.8149A>C (p.Thr2717Pro)
 ClinVar dbSNP
2g.73490105A>GCA347267656ALMS1c.7765A>G (p.Thr2589Ala)
c.1157A>G
c.5217A>G
c.2212A>G (p.Thr738Ala)
c.8146A>G (p.Thr2716Ala)
c.896-29670A>G
c.2977A>G (p.Thr993Ala)
c.8020A>G (p.Thr2674Ala)
n.1949A>G
c.8149A>G (p.Thr2717Ala)
2g.73490105A>TCA347267657ALMS1c.7765A>T (p.Thr2589Ser)
c.1157A>T
c.5217A>T
c.2212A>T (p.Thr738Ser)
c.8146A>T (p.Thr2716Ser)
c.896-29670A>T
c.2977A>T (p.Thr993Ser)
c.8020A>T (p.Thr2674Ser)
n.1949A>T
c.8149A>T (p.Thr2717Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.73490106C>ACA347267660ALMS1c.7766C>A (p.Thr2589Asn)
c.1158C>A
c.5218C>A
c.2213C>A (p.Thr738Asn)
c.8147C>A (p.Thr2716Asn)
c.896-29669C>A
c.2978C>A (p.Thr993Asn)
c.8021C>A (p.Thr2674Asn)
n.1950C>A
c.8150C>A (p.Thr2717Asn)
2g.73490106C=CA1260981487ALMS1c.7766C= (p.Thr2589=)
c.1158C=
c.5218C=
c.2213C= (p.Thr738=)
c.8147C= (p.Thr2716=)
c.896-29669C=
c.2978C= (p.Thr993=)
c.8021C= (p.Thr2674=)
n.1950C=
c.8150C= (p.Thr2717=)
2g.73490106C>GCA347267662ALMS1c.7766C>G (p.Thr2589Ser)
c.1158C>G
c.5218C>G
c.2213C>G (p.Thr738Ser)
c.8147C>G (p.Thr2716Ser)
c.896-29669C>G
c.2978C>G (p.Thr993Ser)
c.8021C>G (p.Thr2674Ser)
n.1950C>G
c.8150C>G (p.Thr2717Ser)
2g.73490106C>TCA347267663ALMS1c.7766C>T (p.Thr2589Ile)
c.1158C>T
c.5218C>T
c.2213C>T (p.Thr738Ile)
c.8147C>T (p.Thr2716Ile)
c.896-29669C>T
c.2978C>T (p.Thr993Ile)
c.8021C>T (p.Thr2674Ile)
n.1950C>T
c.8150C>T (p.Thr2717Ile)
 gnomAD v4
2g.73490106dupCA913090806ALMS1c.7766dup (p.Ser2591PhefsTer7)
c.1158dup
c.5218dup
c.2213dup (p.Ser740PhefsTer7)
c.8147dup (p.Ser2718PhefsTer7)
c.896-29669dup
c.2978dup (p.Ser995PhefsTer7)
c.8021dup (p.Ser2676PhefsTer7)
n.1950dup
c.8150dup (p.Ser2719PhefsTer7)
2g.73490107T>ACA427000961ALMS1c.7767T>A (p.Thr2589=)
c.1159T>A
c.5219T>A
c.2214T>A (p.Thr738=)
c.8148T>A (p.Thr2716=)
c.896-29668T>A
c.2979T>A (p.Thr993=)
c.8022T>A (p.Thr2674=)
n.1951T>A
c.8151T>A (p.Thr2717=)
2g.73490107T>CCA427000962ALMS1c.7767T>C (p.Thr2589=)
c.1159T>C
c.5219T>C
c.2214T>C (p.Thr738=)
c.8148T>C (p.Thr2716=)
c.896-29668T>C
c.2979T>C (p.Thr993=)
c.8022T>C (p.Thr2674=)
n.1951T>C
c.8151T>C (p.Thr2717=)
2g.73490107T>GCA427000964ALMS1c.7767T>G (p.Thr2589=)
c.1159T>G
c.5219T>G
c.2214T>G (p.Thr738=)
c.8148T>G (p.Thr2716=)
c.896-29668T>G
c.2979T>G (p.Thr993=)
c.8022T>G (p.Thr2674=)
n.1951T>G
c.8151T>G (p.Thr2717=)
2g.73490111dupCA658821976ALMS1c.7771dup (p.Ser2591PhefsTer7)
c.1163dup
c.5223dup
c.2218dup (p.Ser740PhefsTer7)
c.8152dup (p.Ser2718PhefsTer7)
c.896-29664dup
c.2983dup (p.Ser995PhefsTer7)
c.8026dup (p.Ser2676PhefsTer7)
n.1955dup
c.8155dup (p.Ser2719PhefsTer7)
 ClinVar dbSNP
2g.73490110_73490111delCA2580068236ALMS1c.7770_7771del (p.Ser2591IlefsTer6)
c.1162_1163del
c.5222_5223del
c.2217_2218del (p.Ser740IlefsTer6)
c.8151_8152del (p.Ser2718IlefsTer6)
c.896-29665_896-29664del
c.2982_2983del (p.Ser995IlefsTer6)
c.8025_8026del (p.Ser2676IlefsTer6)
n.1954_1955del
c.8154_8155del (p.Ser2719IlefsTer6)
 ClinVar
2g.73490108T>ACA347267665ALMS1c.7768T>A (p.Phe2590Ile)
c.1160T>A
c.5220T>A
c.2215T>A (p.Phe739Ile)
c.8149T>A (p.Phe2717Ile)
c.896-29667T>A
c.2980T>A (p.Phe994Ile)
c.8023T>A (p.Phe2675Ile)
n.1952T>A
c.8152T>A (p.Phe2718Ile)
2g.73490108T>CCA347267667ALMS1c.7768T>C (p.Phe2590Leu)
c.1160T>C
c.5220T>C
c.2215T>C (p.Phe739Leu)
c.8149T>C (p.Phe2717Leu)
c.896-29667T>C
c.2980T>C (p.Phe994Leu)
c.8023T>C (p.Phe2675Leu)
n.1952T>C
c.8152T>C (p.Phe2718Leu)
2g.73490108T>GCA347267669ALMS1c.7768T>G (p.Phe2590Val)
c.1160T>G
c.5220T>G
c.2215T>G (p.Phe739Val)
c.8149T>G (p.Phe2717Val)
c.896-29667T>G
c.2980T>G (p.Phe994Val)
c.8023T>G (p.Phe2675Val)
n.1952T>G
c.8152T>G (p.Phe2718Val)
 gnomAD v4
2g.73490109T>ACA347267670ALMS1c.7769T>A (p.Phe2590Tyr)
c.1161T>A
c.5221T>A
c.2216T>A (p.Phe739Tyr)
c.8150T>A (p.Phe2717Tyr)
c.896-29666T>A
c.2981T>A (p.Phe994Tyr)
c.8024T>A (p.Phe2675Tyr)
n.1953T>A
c.8153T>A (p.Phe2718Tyr)
2g.73490109T>CCA347267673ALMS1c.7769T>C (p.Phe2590Ser)
c.1161T>C
c.5221T>C
c.2216T>C (p.Phe739Ser)
c.8150T>C (p.Phe2717Ser)
c.896-29666T>C
c.2981T>C (p.Phe994Ser)
c.8024T>C (p.Phe2675Ser)
n.1953T>C
c.8153T>C (p.Phe2718Ser)
2g.73490109T>GCA347267672ALMS1c.7769T>G (p.Phe2590Cys)
c.1161T>G
c.5221T>G
c.2216T>G (p.Phe739Cys)
c.8150T>G (p.Phe2717Cys)
c.896-29666T>G
c.2981T>G (p.Phe994Cys)
c.8024T>G (p.Phe2675Cys)
n.1953T>G
c.8153T>G (p.Phe2718Cys)
 ClinVar
2g.73490110T>ACA347267675ALMS1c.7770T>A (p.Phe2590Leu)
c.1162T>A
c.5222T>A
c.2217T>A (p.Phe739Leu)
c.8151T>A (p.Phe2717Leu)
c.896-29665T>A
c.2982T>A (p.Phe994Leu)
c.8025T>A (p.Phe2675Leu)
n.1954T>A
c.8154T>A (p.Phe2718Leu)
2g.73490110T>CCA427000972ALMS1c.7770T>C (p.Phe2590=)
c.1162T>C
c.5222T>C
c.2217T>C (p.Phe739=)
c.8151T>C (p.Phe2717=)
c.896-29665T>C
c.2982T>C (p.Phe994=)
c.8025T>C (p.Phe2675=)
n.1954T>C
c.8154T>C (p.Phe2718=)
2g.73490110T>GCA347267676ALMS1c.7770T>G (p.Phe2590Leu)
c.1162T>G
c.5222T>G
c.2217T>G (p.Phe739Leu)
c.8151T>G (p.Phe2717Leu)
c.896-29665T>G
c.2982T>G (p.Phe994Leu)
c.8025T>G (p.Phe2675Leu)
n.1954T>G
c.8154T>G (p.Phe2718Leu)
2g.73490111T>ACA347267677ALMS1c.7771T>A (p.Ser2591Thr)
c.1163T>A
c.5223T>A
c.2218T>A (p.Ser740Thr)
c.8152T>A (p.Ser2718Thr)
c.896-29664T>A
c.2983T>A (p.Ser995Thr)
c.8026T>A (p.Ser2676Thr)
n.1955T>A
c.8155T>A (p.Ser2719Thr)
2g.73490111T>CCA50378139ALMS1c.7771T>C (p.Ser2591Pro)
c.1163T>C
c.5223T>C
c.2218T>C (p.Ser740Pro)
c.8152T>C (p.Ser2718Pro)
c.896-29664T>C
c.2983T>C (p.Ser995Pro)
c.8026T>C (p.Ser2676Pro)
n.1955T>C
c.8155T>C (p.Ser2719Pro)
 ClinVar dbSNP
2g.73490111T>GCA347267681ALMS1c.7771T>G (p.Ser2591Ala)
c.1163T>G
c.5223T>G
c.2218T>G (p.Ser740Ala)
c.8152T>G (p.Ser2718Ala)
c.896-29664T>G
c.2983T>G (p.Ser995Ala)
c.8026T>G (p.Ser2676Ala)
n.1955T>G
c.8155T>G (p.Ser2719Ala)
 gnomAD v4
2g.73490111T=CA1260981498ALMS1c.7771T= (p.Ser2591=)
c.1163T=
c.5223T=
c.2218T= (p.Ser740=)
c.8152T= (p.Ser2718=)
c.896-29664T=
c.2983T= (p.Ser995=)
c.8026T= (p.Ser2676=)
n.1955T=
c.8155T= (p.Ser2719=)
2g.73490112C>ACA347267686ALMS1c.7772C>A (p.Ser2591Ter)
c.1164C>A
c.5224C>A
c.2219C>A (p.Ser740Ter)
c.8153C>A (p.Ser2718Ter)
c.896-29663C>A
c.2984C>A (p.Ser995Ter)
c.8027C>A (p.Ser2676Ter)
n.1956C>A
c.8156C>A (p.Ser2719Ter)
 ClinVar
2g.73490112C>GCA347267684ALMS1c.7772C>G (p.Ser2591Ter)
c.1164C>G
c.5224C>G
c.2219C>G (p.Ser740Ter)
c.8153C>G (p.Ser2718Ter)
c.896-29663C>G
c.2984C>G (p.Ser995Ter)
c.8027C>G (p.Ser2676Ter)
n.1956C>G
c.8156C>G (p.Ser2719Ter)
2g.73490112C>TCA347267682ALMS1c.7772C>T (p.Ser2591Leu)
c.1164C>T
c.5224C>T
c.2219C>T (p.Ser740Leu)
c.8153C>T (p.Ser2718Leu)
c.896-29663C>T
c.2984C>T (p.Ser995Leu)
c.8027C>T (p.Ser2676Leu)
n.1956C>T
c.8156C>T (p.Ser2719Leu)
2g.73490113A>CCA427000981ALMS1c.7773A>C (p.Ser2591=)
c.1165A>C
c.5225A>C
c.2220A>C (p.Ser740=)
c.8154A>C (p.Ser2718=)
c.896-29662A>C
c.2985A>C (p.Ser995=)
c.8028A>C (p.Ser2676=)
n.1957A>C
c.8157A>C (p.Ser2719=)
2g.73490113A>GCA427000983ALMS1c.7773A>G (p.Ser2591=)
c.1165A>G
c.5225A>G
c.2220A>G (p.Ser740=)
c.8154A>G (p.Ser2718=)
c.896-29662A>G
c.2985A>G (p.Ser995=)
c.8028A>G (p.Ser2676=)
n.1957A>G
c.8157A>G (p.Ser2719=)
 ClinVar gnomAD v4
2g.73490113A>TCA427000984ALMS1c.7773A>T (p.Ser2591=)
c.1165A>T
c.5225A>T
c.2220A>T (p.Ser740=)
c.8154A>T (p.Ser2718=)
c.896-29662A>T
c.2985A>T (p.Ser995=)
c.8028A>T (p.Ser2676=)
n.1957A>T
c.8157A>T (p.Ser2719=)
2g.73490114T>ACA347267687ALMS1c.7774T>A (p.Ser2592Thr)
c.1166T>A
c.5226T>A
c.2221T>A (p.Ser741Thr)
c.8155T>A (p.Ser2719Thr)
c.896-29661T>A
c.2986T>A (p.Ser996Thr)
c.8029T>A (p.Ser2677Thr)
n.1958T>A
c.8158T>A (p.Ser2720Thr)
2g.73490114T>CCA347267689ALMS1c.7774T>C (p.Ser2592Pro)
c.1166T>C
c.5226T>C
c.2221T>C (p.Ser741Pro)
c.8155T>C (p.Ser2719Pro)
c.896-29661T>C
c.2986T>C (p.Ser996Pro)
c.8029T>C (p.Ser2677Pro)
n.1958T>C
c.8158T>C (p.Ser2720Pro)
 gnomAD v4
2g.73490114T>GCA347267690ALMS1c.7774T>G (p.Ser2592Ala)
c.1166T>G
c.5226T>G
c.2221T>G (p.Ser741Ala)
c.8155T>G (p.Ser2719Ala)
c.896-29661T>G
c.2986T>G (p.Ser996Ala)
c.8029T>G (p.Ser2677Ala)
n.1958T>G
c.8158T>G (p.Ser2720Ala)
2g.73490115C>ACA347267691ALMS1c.7775C>A (p.Ser2592Tyr)
c.1167C>A
c.5227C>A
c.2222C>A (p.Ser741Tyr)
c.8156C>A (p.Ser2719Tyr)
c.896-29660C>A
c.2987C>A (p.Ser996Tyr)
c.8030C>A (p.Ser2677Tyr)
n.1959C>A
c.8159C>A (p.Ser2720Tyr)
2g.73490115C=CA1260981500ALMS1c.7775C= (p.Ser2592=)
c.1167C=
c.5227C=
c.2222C= (p.Ser741=)
c.8156C= (p.Ser2719=)
c.896-29660C=
c.2987C= (p.Ser996=)
c.8030C= (p.Ser2677=)
n.1959C=
c.8159C= (p.Ser2720=)
2g.73490115C>GCA347267693ALMS1c.7775C>G (p.Ser2592Cys)
c.1167C>G
c.5227C>G
c.2222C>G (p.Ser741Cys)
c.8156C>G (p.Ser2719Cys)
c.896-29660C>G
c.2987C>G (p.Ser996Cys)
c.8030C>G (p.Ser2677Cys)
n.1959C>G
c.8159C>G (p.Ser2720Cys)
 ClinVar dbSNP gnomAD v4
2g.73490115C>TCA347267695ALMS1c.7775C>T (p.Ser2592Phe)
c.1167C>T
c.5227C>T
c.2222C>T (p.Ser741Phe)
c.8156C>T (p.Ser2719Phe)
c.896-29660C>T
c.2987C>T (p.Ser996Phe)
c.8030C>T (p.Ser2677Phe)
n.1959C>T
c.8159C>T (p.Ser2720Phe)
 gnomAD v4
2g.73490116T>ACA427000991ALMS1c.7776T>A (p.Ser2592=)
c.1168T>A
c.5228T>A
c.2223T>A (p.Ser741=)
c.8157T>A (p.Ser2719=)
c.896-29659T>A
c.2988T>A (p.Ser996=)
c.8031T>A (p.Ser2677=)
n.1960T>A
c.8160T>A (p.Ser2720=)
2g.73490116T>CCA427000993ALMS1c.7776T>C (p.Ser2592=)
c.1168T>C
c.5228T>C
c.2223T>C (p.Ser741=)
c.8157T>C (p.Ser2719=)
c.896-29659T>C
c.2988T>C (p.Ser996=)
c.8031T>C (p.Ser2677=)
n.1960T>C
c.8160T>C (p.Ser2720=)
2g.73490116T>GCA427000995ALMS1c.7776T>G (p.Ser2592=)
c.1168T>G
c.5228T>G
c.2223T>G (p.Ser741=)
c.8157T>G (p.Ser2719=)
c.896-29659T>G
c.2988T>G (p.Ser996=)
c.8031T>G (p.Ser2677=)
n.1960T>G
c.8160T>G (p.Ser2720=)
2g.73490117C>ACA347267696ALMS1c.7777C>A (p.His2593Asn)
c.1169C>A
c.5229C>A
c.2224C>A (p.His742Asn)
c.8158C>A (p.His2720Asn)
c.896-29658C>A
c.2989C>A (p.His997Asn)
c.8032C>A (p.His2678Asn)
n.1961C>A
c.8161C>A (p.His2721Asn)
2g.73490117C>GCA347267699ALMS1c.7777C>G (p.His2593Asp)
c.1169C>G
c.5229C>G
c.2224C>G (p.His742Asp)
c.8158C>G (p.His2720Asp)
c.896-29658C>G
c.2989C>G (p.His997Asp)
c.8032C>G (p.His2678Asp)
n.1961C>G
c.8161C>G (p.His2721Asp)
2g.73490117C>TCA347267698ALMS1c.7777C>T (p.His2593Tyr)
c.1169C>T
c.5229C>T
c.2224C>T (p.His742Tyr)
c.8158C>T (p.His2720Tyr)
c.896-29658C>T
c.2989C>T (p.His997Tyr)
c.8032C>T (p.His2678Tyr)
n.1961C>T
c.8161C>T (p.His2721Tyr)
2g.73490118A>CCA347267701ALMS1c.7778A>C (p.His2593Pro)
c.1170A>C
c.5230A>C
c.2225A>C (p.His742Pro)
c.8159A>C (p.His2720Pro)
c.896-29657A>C
c.2990A>C (p.His997Pro)
c.8033A>C (p.His2678Pro)
n.1962A>C
c.8162A>C (p.His2721Pro)
2g.73490118A>GCA347267703ALMS1c.7778A>G (p.His2593Arg)
c.1170A>G
c.5230A>G
c.2225A>G (p.His742Arg)
c.8159A>G (p.His2720Arg)
c.896-29657A>G
c.2990A>G (p.His997Arg)
c.8033A>G (p.His2678Arg)
n.1962A>G
c.8162A>G (p.His2721Arg)
2g.73490118A>TCA347267704ALMS1c.7778A>T (p.His2593Leu)
c.1170A>T
c.5230A>T
c.2225A>T (p.His742Leu)
c.8159A>T (p.His2720Leu)
c.896-29657A>T
c.2990A>T (p.His997Leu)
c.8033A>T (p.His2678Leu)
n.1962A>T
c.8162A>T (p.His2721Leu)
2g.73490119C>ACA347267706ALMS1c.7779C>A (p.His2593Gln)
c.1171C>A
c.5231C>A
c.2226C>A (p.His742Gln)
c.8160C>A (p.His2720Gln)
c.896-29656C>A
c.2991C>A (p.His997Gln)
c.8034C>A (p.His2678Gln)
n.1963C>A
c.8163C>A (p.His2721Gln)
2g.73490119C=CA1260981501ALMS1c.7779C= (p.His2593=)
c.1171C=
c.5231C=
c.2226C= (p.His742=)
c.8160C= (p.His2720=)
c.896-29656C=
c.2991C= (p.His997=)
c.8034C= (p.His2678=)
n.1963C=
c.8163C= (p.His2721=)
2g.73490119C>GCA347267707ALMS1c.7779C>G (p.His2593Gln)
c.1171C>G
c.5231C>G
c.2226C>G (p.His742Gln)
c.8160C>G (p.His2720Gln)
c.896-29656C>G
c.2991C>G (p.His997Gln)
c.8034C>G (p.His2678Gln)
n.1963C>G
c.8163C>G (p.His2721Gln)
2g.73490119C>TCA50378141ALMS1c.7779C>T (p.His2593=)
c.1171C>T
c.5231C>T
c.2226C>T (p.His742=)
c.8160C>T (p.His2720=)
c.896-29656C>T
c.2991C>T (p.His997=)
c.8034C>T (p.His2678=)
n.1963C>T
c.8163C>T (p.His2721=)
 ClinVar dbSNP gnomAD v4
2g.73490120C>ACA427001008ALMS1c.7780C>A (p.Arg2594=)
c.1172C>A
c.5232C>A
c.2227C>A (p.Arg743=)
c.8161C>A (p.Arg2721=)
c.896-29655C>A
c.2992C>A (p.Arg998=)
c.8035C>A (p.Arg2679=)
n.1964C>A
c.8164C>A (p.Arg2722=)
2g.73490120C=CA1260981503ALMS1c.7780C= (p.Arg2594=)
c.1172C=
c.5232C=
c.2227C= (p.Arg743=)
c.8161C= (p.Arg2721=)
c.896-29655C=
c.2992C= (p.Arg998=)
c.8035C= (p.Arg2679=)
n.1964C=
c.8164C= (p.Arg2722=)
2g.73490120C>GCA347267708ALMS1c.7780C>G (p.Arg2594Gly)
c.1172C>G
c.5232C>G
c.2227C>G (p.Arg743Gly)
c.8161C>G (p.Arg2721Gly)
c.896-29655C>G
c.2992C>G (p.Arg998Gly)
c.8035C>G (p.Arg2679Gly)
n.1964C>G
c.8164C>G (p.Arg2722Gly)
2g.73490120C>TCA252958ALMS1c.7780C>T (p.Arg2594Ter)
c.1172C>T
c.5232C>T
c.2227C>T (p.Arg743Ter)
c.8161C>T (p.Arg2721Ter)
c.896-29655C>T
c.2992C>T (p.Arg998Ter)
c.8035C>T (p.Arg2679Ter)
n.1964C>T
c.8164C>T (p.Arg2722Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490121G>ACA1714415ALMS1c.7781G>A (p.Arg2594Gln)
c.1173G>A
c.5233G>A
c.2228G>A (p.Arg743Gln)
c.8162G>A (p.Arg2721Gln)
c.896-29654G>A
c.2993G>A (p.Arg998Gln)
c.8036G>A (p.Arg2679Gln)
n.1965G>A
c.8165G>A (p.Arg2722Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490121G>CCA347267711ALMS1c.7781G>C (p.Arg2594Pro)
c.1173G>C
c.5233G>C
c.2228G>C (p.Arg743Pro)
c.8162G>C (p.Arg2721Pro)
c.896-29654G>C
c.2993G>C (p.Arg998Pro)
c.8036G>C (p.Arg2679Pro)
n.1965G>C
c.8165G>C (p.Arg2722Pro)
2g.73490121G=CA1260981511ALMS1c.7781G= (p.Arg2594=)
c.1173G=
c.5233G=
c.2228G= (p.Arg743=)
c.8162G= (p.Arg2721=)
c.896-29654G=
c.2993G= (p.Arg998=)
c.8036G= (p.Arg2679=)
n.1965G=
c.8165G= (p.Arg2722=)
2g.73490121G>TCA347267713ALMS1c.7781G>T (p.Arg2594Leu)
c.1173G>T
c.5233G>T
c.2228G>T (p.Arg743Leu)
c.8162G>T (p.Arg2721Leu)
c.896-29654G>T
c.2993G>T (p.Arg998Leu)
c.8036G>T (p.Arg2679Leu)
n.1965G>T
c.8165G>T (p.Arg2722Leu)
 gnomAD v4
2g.73490122A=CA1260981514ALMS1c.7782A= (p.Arg2594=)
c.1174A=
c.5234A=
c.2229A= (p.Arg743=)
c.8163A= (p.Arg2721=)
c.896-29653A=
c.2994A= (p.Arg998=)
c.8037A= (p.Arg2679=)
n.1966A=
c.8166A= (p.Arg2722=)
2g.73490122A>CCA427001012ALMS1c.7782A>C (p.Arg2594=)
c.1174A>C
c.5234A>C
c.2229A>C (p.Arg743=)
c.8163A>C (p.Arg2721=)
c.896-29653A>C
c.2994A>C (p.Arg998=)
c.8037A>C (p.Arg2679=)
n.1966A>C
c.8166A>C (p.Arg2722=)
2g.73490122A>GCA1714416ALMS1c.7782A>G (p.Arg2594=)
c.1174A>G
c.5234A>G
c.2229A>G (p.Arg743=)
c.8163A>G (p.Arg2721=)
c.896-29653A>G
c.2994A>G (p.Arg998=)
c.8037A>G (p.Arg2679=)
n.1966A>G
c.8166A>G (p.Arg2722=)
 ClinVar dbSNP ExAC gnomAD v2
2g.73490122A>TCA427001015ALMS1c.7782A>T (p.Arg2594=)
c.1174A>T
c.5234A>T
c.2229A>T (p.Arg743=)
c.8163A>T (p.Arg2721=)
c.896-29653A>T
c.2994A>T (p.Arg998=)
c.8037A>T (p.Arg2679=)
n.1966A>T
c.8166A>T (p.Arg2722=)

Number of alleles fetched