Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73489598A=CA1260981051ALMS1c.7294-36A= (n.7294-36A=)
c.686-36A=
c.4746-36A=
c.1741-36A= (n.1741-36A=)
c.7675-36A= (n.7675-36A=)
c.896-30177A=
c.2506-36A= (n.2506-36A=)
c.7549-36A= (n.7549-36A=)
n.1478-36A=
c.7678-36A= (n.7678-36A=)
2g.73489598A>GCA1714311ALMS1c.7294-36A>G (n.7294-36A>G)
c.686-36A>G
c.4746-36A>G
c.1741-36A>G (n.1741-36A>G)
c.7675-36A>G (n.7675-36A>G)
c.896-30177A>G
c.2506-36A>G (n.2506-36A>G)
c.7549-36A>G (n.7549-36A>G)
n.1478-36A>G
c.7678-36A>G (n.7678-36A>G)
 dbSNP ExAC gnomAD v4
2g.73489599C=CA1260981052ALMS1c.7294-35C= (n.7294-35C=)
c.686-35C=
c.4746-35C=
c.1741-35C= (n.1741-35C=)
c.7675-35C= (n.7675-35C=)
c.896-30176C=
c.2506-35C= (n.2506-35C=)
c.7549-35C= (n.7549-35C=)
n.1478-35C=
c.7678-35C= (n.7678-35C=)
2g.73489599C>GCA1260981053ALMS1c.7294-35C>G (n.7294-35C>G)
c.686-35C>G
c.4746-35C>G
c.1741-35C>G (n.1741-35C>G)
c.7675-35C>G (n.7675-35C>G)
c.896-30176C>G
c.2506-35C>G (n.2506-35C>G)
c.7549-35C>G (n.7549-35C>G)
n.1478-35C>G
c.7678-35C>G (n.7678-35C>G)
 dbSNP
2g.73489599C>TCA2659619802ALMS1c.7294-35C>T (n.7294-35C>T)
c.686-35C>T
c.4746-35C>T
c.1741-35C>T (n.1741-35C>T)
c.7675-35C>T (n.7675-35C>T)
c.896-30176C>T
c.2506-35C>T (n.2506-35C>T)
c.7549-35C>T (n.7549-35C>T)
n.1478-35C>T
c.7678-35C>T (n.7678-35C>T)
 gnomAD v4
2g.73489601T>ACA2659619803ALMS1c.7294-33T>A (n.7294-33T>A)
c.686-33T>A
c.4746-33T>A
c.1741-33T>A (n.1741-33T>A)
c.7675-33T>A (n.7675-33T>A)
c.896-30174T>A
c.2506-33T>A (n.2506-33T>A)
c.7549-33T>A (n.7549-33T>A)
n.1478-33T>A
c.7678-33T>A (n.7678-33T>A)
 gnomAD v4
2g.73489602C>ACA1260981055ALMS1c.7294-32C>A (n.7294-32C>A)
c.686-32C>A
c.4746-32C>A
c.1741-32C>A (n.1741-32C>A)
c.7675-32C>A (n.7675-32C>A)
c.896-30173C>A
c.2506-32C>A (n.2506-32C>A)
c.7549-32C>A (n.7549-32C>A)
n.1478-32C>A
c.7678-32C>A (n.7678-32C>A)
 dbSNP
2g.73489602C=CA1260981054ALMS1c.7294-32C= (n.7294-32C=)
c.686-32C=
c.4746-32C=
c.1741-32C= (n.1741-32C=)
c.7675-32C= (n.7675-32C=)
c.896-30173C=
c.2506-32C= (n.2506-32C=)
c.7549-32C= (n.7549-32C=)
n.1478-32C=
c.7678-32C= (n.7678-32C=)
2g.73489602C>TCA534125605ALMS1c.7294-32C>T (n.7294-32C>T)
c.686-32C>T
c.4746-32C>T
c.1741-32C>T (n.1741-32C>T)
c.7675-32C>T (n.7675-32C>T)
c.896-30173C>T
c.2506-32C>T (n.2506-32C>T)
c.7549-32C>T (n.7549-32C>T)
n.1478-32C>T
c.7678-32C>T (n.7678-32C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.73489604A=CA1260981056ALMS1c.7294-30A= (n.7294-30A=)
c.686-30A=
c.4746-30A=
c.1741-30A= (n.1741-30A=)
c.7675-30A= (n.7675-30A=)
c.896-30171A=
c.2506-30A= (n.2506-30A=)
c.7549-30A= (n.7549-30A=)
n.1478-30A=
c.7678-30A= (n.7678-30A=)
2g.73489604A>GCA534125606ALMS1c.7294-30A>G (n.7294-30A>G)
c.686-30A>G
c.4746-30A>G
c.1741-30A>G (n.1741-30A>G)
c.7675-30A>G (n.7675-30A>G)
c.896-30171A>G
c.2506-30A>G (n.2506-30A>G)
c.7549-30A>G (n.7549-30A>G)
n.1478-30A>G
c.7678-30A>G (n.7678-30A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.73489605A=CA1260981057ALMS1c.7294-29A= (n.7294-29A=)
c.686-29A=
c.4746-29A=
c.1741-29A= (n.1741-29A=)
c.7675-29A= (n.7675-29A=)
c.896-30170A=
c.2506-29A= (n.2506-29A=)
c.7549-29A= (n.7549-29A=)
n.1478-29A=
c.7678-29A= (n.7678-29A=)
2g.73489605A>GCA1260981058ALMS1c.7294-29A>G (n.7294-29A>G)
c.686-29A>G
c.4746-29A>G
c.1741-29A>G (n.1741-29A>G)
c.7675-29A>G (n.7675-29A>G)
c.896-30170A>G
c.2506-29A>G (n.2506-29A>G)
c.7549-29A>G (n.7549-29A>G)
n.1478-29A>G
c.7678-29A>G (n.7678-29A>G)
 dbSNP gnomAD v4
2g.73489606T>ACA1714312ALMS1c.7294-28T>A (n.7294-28T>A)
c.686-28T>A
c.4746-28T>A
c.1741-28T>A (n.1741-28T>A)
c.7675-28T>A (n.7675-28T>A)
c.896-30169T>A
c.2506-28T>A (n.2506-28T>A)
c.7549-28T>A (n.7549-28T>A)
n.1478-28T>A
c.7678-28T>A (n.7678-28T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489606T=CA1260981059ALMS1c.7294-28T= (n.7294-28T=)
c.686-28T=
c.4746-28T=
c.1741-28T= (n.1741-28T=)
c.7675-28T= (n.7675-28T=)
c.896-30169T=
c.2506-28T= (n.2506-28T=)
c.7549-28T= (n.7549-28T=)
n.1478-28T=
c.7678-28T= (n.7678-28T=)
2g.73489606_73489609delinsTAAGCA1260981060ALMS1c.7294-28_7294-25delinsTAAG (n.7294-28_7294-25delinsTAAG)
c.686-28_686-25delinsTAAG
c.4746-28_4746-25delinsTAAG
c.1741-28_1741-25delinsTAAG (n.1741-28_1741-25delinsTAAG)
c.7675-28_7675-25delinsTAAG (n.7675-28_7675-25delinsTAAG)
c.896-30169_896-30166delinsTAAG
c.2506-28_2506-25delinsTAAG (n.2506-28_2506-25delinsTAAG)
c.7549-28_7549-25delinsTAAG (n.7549-28_7549-25delinsTAAG)
n.1478-28_1478-25delinsTAAG
c.7678-28_7678-25delinsTAAG (n.7678-28_7678-25delinsTAAG)
2g.73489607A=CA1260981061ALMS1c.7294-27A= (n.7294-27A=)
c.686-27A=
c.4746-27A=
c.1741-27A= (n.1741-27A=)
c.7675-27A= (n.7675-27A=)
c.896-30168A=
c.2506-27A= (n.2506-27A=)
c.7549-27A= (n.7549-27A=)
n.1478-27A=
c.7678-27A= (n.7678-27A=)
2g.73489607A>GCA1714313ALMS1c.7294-27A>G (n.7294-27A>G)
c.686-27A>G
c.4746-27A>G
c.1741-27A>G (n.1741-27A>G)
c.7675-27A>G (n.7675-27A>G)
c.896-30168A>G
c.2506-27A>G (n.2506-27A>G)
c.7549-27A>G (n.7549-27A>G)
n.1478-27A>G
c.7678-27A>G (n.7678-27A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489609_73489611delCA534125607ALMS1c.7294-25_7294-23del (n.7294-25_7294-23del)
c.686-25_686-23del
c.4746-25_4746-23del
c.1741-25_1741-23del (n.1741-25_1741-23del)
c.7675-25_7675-23del (n.7675-25_7675-23del)
c.896-30166_896-30164del
c.2506-25_2506-23del (n.2506-25_2506-23del)
c.7549-25_7549-23del (n.7549-25_7549-23del)
n.1478-25_1478-23del
c.7678-25_7678-23del (n.7678-25_7678-23del)
 dbSNP gnomAD v2 gnomAD v4
2g.73489609G=CA1260981062ALMS1c.7294-25G= (n.7294-25G=)
c.686-25G=
c.4746-25G=
c.1741-25G= (n.1741-25G=)
c.7675-25G= (n.7675-25G=)
c.896-30166G=
c.2506-25G= (n.2506-25G=)
c.7549-25G= (n.7549-25G=)
n.1478-25G=
c.7678-25G= (n.7678-25G=)
2g.73489609G>TCA892865185ALMS1c.7294-25G>T (n.7294-25G>T)
c.686-25G>T
c.4746-25G>T
c.1741-25G>T (n.1741-25G>T)
c.7675-25G>T (n.7675-25G>T)
c.896-30166G>T
c.2506-25G>T (n.2506-25G>T)
c.7549-25G>T (n.7549-25G>T)
n.1478-25G>T
c.7678-25G>T (n.7678-25G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.73489610A=CA1260981063ALMS1c.7294-24A= (n.7294-24A=)
c.686-24A=
c.4746-24A=
c.1741-24A= (n.1741-24A=)
c.7675-24A= (n.7675-24A=)
c.896-30165A=
c.2506-24A= (n.2506-24A=)
c.7549-24A= (n.7549-24A=)
n.1478-24A=
c.7678-24A= (n.7678-24A=)
2g.73489610A>TCA1260981064ALMS1c.7294-24A>T (n.7294-24A>T)
c.686-24A>T
c.4746-24A>T
c.1741-24A>T (n.1741-24A>T)
c.7675-24A>T (n.7675-24A>T)
c.896-30165A>T
c.2506-24A>T (n.2506-24A>T)
c.7549-24A>T (n.7549-24A>T)
n.1478-24A>T
c.7678-24A>T (n.7678-24A>T)
 dbSNP gnomAD v4
2g.73489612C>ACA1260981066ALMS1c.7294-22C>A (n.7294-22C>A)
c.686-22C>A
c.4746-22C>A
c.1741-22C>A (n.1741-22C>A)
c.7675-22C>A (n.7675-22C>A)
c.896-30163C>A
c.2506-22C>A (n.2506-22C>A)
c.7549-22C>A (n.7549-22C>A)
n.1478-22C>A
c.7678-22C>A (n.7678-22C>A)
 dbSNP gnomAD v4
2g.73489612C=CA1260981065ALMS1c.7294-22C= (n.7294-22C=)
c.686-22C=
c.4746-22C=
c.1741-22C= (n.1741-22C=)
c.7675-22C= (n.7675-22C=)
c.896-30163C=
c.2506-22C= (n.2506-22C=)
c.7549-22C= (n.7549-22C=)
n.1478-22C=
c.7678-22C= (n.7678-22C=)
2g.73489612C>GCA2659619804ALMS1c.7294-22C>G (n.7294-22C>G)
c.686-22C>G
c.4746-22C>G
c.1741-22C>G (n.1741-22C>G)
c.7675-22C>G (n.7675-22C>G)
c.896-30163C>G
c.2506-22C>G (n.2506-22C>G)
c.7549-22C>G (n.7549-22C>G)
n.1478-22C>G
c.7678-22C>G (n.7678-22C>G)
 gnomAD v4
2g.73489613C>TCA2659619805ALMS1c.7294-21C>T (n.7294-21C>T)
c.686-21C>T
c.4746-21C>T
c.1741-21C>T (n.1741-21C>T)
c.7675-21C>T (n.7675-21C>T)
c.896-30162C>T
c.2506-21C>T (n.2506-21C>T)
c.7549-21C>T (n.7549-21C>T)
n.1478-21C>T
c.7678-21C>T (n.7678-21C>T)
 gnomAD v4
2g.73489613_73489617delinsCTGTTCA1260981067ALMS1c.7294-21_7294-17delinsCTGTT (n.7294-21_7294-17delinsCTGTT)
c.686-21_686-17delinsCTGTT
c.4746-21_4746-17delinsCTGTT
c.1741-21_1741-17delinsCTGTT (n.1741-21_1741-17delinsCTGTT)
c.7675-21_7675-17delinsCTGTT (n.7675-21_7675-17delinsCTGTT)
c.896-30162_896-30158delinsCTGTT
c.2506-21_2506-17delinsCTGTT (n.2506-21_2506-17delinsCTGTT)
c.7549-21_7549-17delinsCTGTT (n.7549-21_7549-17delinsCTGTT)
n.1478-21_1478-17delinsCTGTT
c.7678-21_7678-17delinsCTGTT (n.7678-21_7678-17delinsCTGTT)
2g.73489621_73489624delCA1714314ALMS1c.7294-13_7294-10del (n.7294-13_7294-10del)
c.686-13_686-10del
c.4746-13_4746-10del
c.1741-13_1741-10del (n.1741-13_1741-10del)
c.7675-13_7675-10del (n.7675-13_7675-10del)
c.896-30154_896-30151del
c.2506-13_2506-10del (n.2506-13_2506-10del)
c.7549-13_7549-10del (n.7549-13_7549-10del)
n.1478-13_1478-10del
c.7678-13_7678-10del (n.7678-13_7678-10del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489615G>ACA534125608ALMS1c.7294-19G>A (n.7294-19G>A)
c.686-19G>A
c.4746-19G>A
c.1741-19G>A (n.1741-19G>A)
c.7675-19G>A (n.7675-19G>A)
c.896-30160G>A
c.2506-19G>A (n.2506-19G>A)
c.7549-19G>A (n.7549-19G>A)
n.1478-19G>A
c.7678-19G>A (n.7678-19G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73489615G=CA1260981068ALMS1c.7294-19G= (n.7294-19G=)
c.686-19G=
c.4746-19G=
c.1741-19G= (n.1741-19G=)
c.7675-19G= (n.7675-19G=)
c.896-30160G=
c.2506-19G= (n.2506-19G=)
c.7549-19G= (n.7549-19G=)
n.1478-19G=
c.7678-19G= (n.7678-19G=)
2g.73489616T>CCA892865195ALMS1c.7294-18T>C (n.7294-18T>C)
c.686-18T>C
c.4746-18T>C
c.1741-18T>C (n.1741-18T>C)
c.7675-18T>C (n.7675-18T>C)
c.896-30159T>C
c.2506-18T>C (n.2506-18T>C)
c.7549-18T>C (n.7549-18T>C)
n.1478-18T>C
c.7678-18T>C (n.7678-18T>C)
 dbSNP
2g.73489616T=CA1260981069ALMS1c.7294-18T= (n.7294-18T=)
c.686-18T=
c.4746-18T=
c.1741-18T= (n.1741-18T=)
c.7675-18T= (n.7675-18T=)
c.896-30159T=
c.2506-18T= (n.2506-18T=)
c.7549-18T= (n.7549-18T=)
n.1478-18T=
c.7678-18T= (n.7678-18T=)
2g.73489617T>GCA2659619806ALMS1c.7294-17T>G (n.7294-17T>G)
c.686-17T>G
c.4746-17T>G
c.1741-17T>G (n.1741-17T>G)
c.7675-17T>G (n.7675-17T>G)
c.896-30158T>G
c.2506-17T>G (n.2506-17T>G)
c.7549-17T>G (n.7549-17T>G)
n.1478-17T>G
c.7678-17T>G (n.7678-17T>G)
 gnomAD v4
2g.73489619G>ACA892865197ALMS1c.7294-15G>A (n.7294-15G>A)
c.686-15G>A
c.4746-15G>A
c.1741-15G>A (n.1741-15G>A)
c.7675-15G>A (n.7675-15G>A)
c.896-30156G>A
c.2506-15G>A (n.2506-15G>A)
c.7549-15G>A (n.7549-15G>A)
n.1478-15G>A
c.7678-15G>A (n.7678-15G>A)
 dbSNP
2g.73489619G=CA1260981070ALMS1c.7294-15G= (n.7294-15G=)
c.686-15G=
c.4746-15G=
c.1741-15G= (n.1741-15G=)
c.7675-15G= (n.7675-15G=)
c.896-30156G=
c.2506-15G= (n.2506-15G=)
c.7549-15G= (n.7549-15G=)
n.1478-15G=
c.7678-15G= (n.7678-15G=)
2g.73489619G>TCA2659619807ALMS1c.7294-15G>T (n.7294-15G>T)
c.686-15G>T
c.4746-15G>T
c.1741-15G>T (n.1741-15G>T)
c.7675-15G>T (n.7675-15G>T)
c.896-30156G>T
c.2506-15G>T (n.2506-15G>T)
c.7549-15G>T (n.7549-15G>T)
n.1478-15G>T
c.7678-15G>T (n.7678-15G>T)
 ClinVar gnomAD v4
2g.73489622T>CCA2659619808ALMS1c.7294-12T>C (n.7294-12T>C)
c.686-12T>C
c.4746-12T>C
c.1741-12T>C (n.1741-12T>C)
c.7675-12T>C (n.7675-12T>C)
c.896-30153T>C
c.2506-12T>C (n.2506-12T>C)
c.7549-12T>C (n.7549-12T>C)
n.1478-12T>C
c.7678-12T>C (n.7678-12T>C)
 ClinVar gnomAD v4
2g.73489623G=CA1260981071ALMS1c.7294-11G= (n.7294-11G=)
c.686-11G=
c.4746-11G=
c.1741-11G= (n.1741-11G=)
c.7675-11G= (n.7675-11G=)
c.896-30152G=
c.2506-11G= (n.2506-11G=)
c.7549-11G= (n.7549-11G=)
n.1478-11G=
c.7678-11G= (n.7678-11G=)
2g.73489623G>TCA534125609ALMS1c.7294-11G>T (n.7294-11G>T)
c.686-11G>T
c.4746-11G>T
c.1741-11G>T (n.1741-11G>T)
c.7675-11G>T (n.7675-11G>T)
c.896-30152G>T
c.2506-11G>T (n.2506-11G>T)
c.7549-11G>T (n.7549-11G>T)
n.1478-11G>T
c.7678-11G>T (n.7678-11G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.73489625A>GCA2499216251ALMS1c.7294-9A>G (n.7294-9A>G)
c.686-9A>G
c.4746-9A>G
c.1741-9A>G (n.1741-9A>G)
c.7675-9A>G (n.7675-9A>G)
c.896-30150A>G
c.2506-9A>G (n.2506-9A>G)
c.7549-9A>G (n.7549-9A>G)
n.1478-9A>G
c.7678-9A>G (n.7678-9A>G)
 ClinVar dbSNP gnomAD v4
2g.73489626T>ACA658821969ALMS1c.7294-8T>A (n.7294-8T>A)
c.686-8T>A
c.4746-8T>A
c.1741-8T>A (n.1741-8T>A)
c.7675-8T>A (n.7675-8T>A)
c.896-30149T>A
c.2506-8T>A (n.2506-8T>A)
c.7549-8T>A (n.7549-8T>A)
n.1478-8T>A
c.7678-8T>A (n.7678-8T>A)
 ClinVar dbSNP
2g.73489626T>CCA2659619809ALMS1c.7294-8T>C (n.7294-8T>C)
c.686-8T>C
c.4746-8T>C
c.1741-8T>C (n.1741-8T>C)
c.7675-8T>C (n.7675-8T>C)
c.896-30149T>C
c.2506-8T>C (n.2506-8T>C)
c.7549-8T>C (n.7549-8T>C)
n.1478-8T>C
c.7678-8T>C (n.7678-8T>C)
 ClinVar gnomAD v4
2g.73489626T=CA1260981072ALMS1c.7294-8T= (n.7294-8T=)
c.686-8T=
c.4746-8T=
c.1741-8T= (n.1741-8T=)
c.7675-8T= (n.7675-8T=)
c.896-30149T=
c.2506-8T= (n.2506-8T=)
c.7549-8T= (n.7549-8T=)
n.1478-8T=
c.7678-8T= (n.7678-8T=)
2g.73489627C=CA1260981073ALMS1c.7294-7C= (n.7294-7C=)
c.686-7C=
c.4746-7C=
c.1741-7C= (n.1741-7C=)
c.7675-7C= (n.7675-7C=)
c.896-30148C=
c.2506-7C= (n.2506-7C=)
c.7549-7C= (n.7549-7C=)
n.1478-7C=
c.7678-7C= (n.7678-7C=)
2g.73489627C>TCA658821970ALMS1c.7294-7C>T (n.7294-7C>T)
c.686-7C>T
c.4746-7C>T
c.1741-7C>T (n.1741-7C>T)
c.7675-7C>T (n.7675-7C>T)
c.896-30148C>T
c.2506-7C>T (n.2506-7C>T)
c.7549-7C>T (n.7549-7C>T)
n.1478-7C>T
c.7678-7C>T (n.7678-7C>T)
 ClinVar dbSNP
2g.73489628T>ACA892865209ALMS1c.7294-6T>A (n.7294-6T>A)
c.686-6T>A
c.4746-6T>A
c.1741-6T>A (n.1741-6T>A)
c.7675-6T>A (n.7675-6T>A)
c.896-30147T>A
c.2506-6T>A (n.2506-6T>A)
c.7549-6T>A (n.7549-6T>A)
n.1478-6T>A
c.7678-6T>A (n.7678-6T>A)
 dbSNP gnomAD v3 gnomAD v4
2g.73489628T>CCA1714315ALMS1c.7294-6T>C (n.7294-6T>C)
c.686-6T>C
c.4746-6T>C
c.1741-6T>C (n.1741-6T>C)
c.7675-6T>C (n.7675-6T>C)
c.896-30147T>C
c.2506-6T>C (n.2506-6T>C)
c.7549-6T>C (n.7549-6T>C)
n.1478-6T>C
c.7678-6T>C (n.7678-6T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489628T=CA1260981074ALMS1c.7294-6T= (n.7294-6T=)
c.686-6T=
c.4746-6T=
c.1741-6T= (n.1741-6T=)
c.7675-6T= (n.7675-6T=)
c.896-30147T=
c.2506-6T= (n.2506-6T=)
c.7549-6T= (n.7549-6T=)
n.1478-6T=
c.7678-6T= (n.7678-6T=)
2g.73489630C>GCA2659619810ALMS1c.7294-4C>G (n.7294-4C>G)
c.686-4C>G
c.4746-4C>G
c.1741-4C>G (n.1741-4C>G)
c.7675-4C>G (n.7675-4C>G)
c.896-30145C>G
c.2506-4C>G (n.2506-4C>G)
c.7549-4C>G (n.7549-4C>G)
n.1478-4C>G
c.7678-4C>G (n.7678-4C>G)
 gnomAD v4
2g.73489630C>TCA2739271086ALMS1c.7294-4C>T (n.7294-4C>T)
c.686-4C>T
c.4746-4C>T
c.1741-4C>T (n.1741-4C>T)
c.7675-4C>T (n.7675-4C>T)
c.896-30145C>T
c.2506-4C>T (n.2506-4C>T)
c.7549-4C>T (n.7549-4C>T)
n.1478-4C>T
c.7678-4C>T (n.7678-4C>T)
 ClinVar
2g.73489631T>CCA2659619811ALMS1c.7294-3T>C (n.7294-3T>C)
c.686-3T>C
c.4746-3T>C
c.1741-3T>C (n.1741-3T>C)
c.7675-3T>C (n.7675-3T>C)
c.896-30144T>C
c.2506-3T>C (n.2506-3T>C)
c.7549-3T>C (n.7549-3T>C)
n.1478-3T>C
c.7678-3T>C (n.7678-3T>C)
 gnomAD v4
2g.73489632A=CA1260981075ALMS1c.7294-2A= (n.7294-2A=)
c.686-2A=
c.4746-2A=
c.1741-2A= (n.1741-2A=)
c.7675-2A= (n.7675-2A=)
c.896-30143A=
c.2506-2A= (n.2506-2A=)
c.7549-2A= (n.7549-2A=)
n.1478-2A=
c.7678-2A= (n.7678-2A=)
2g.73489632A>CCA347263821ALMS1c.7294-2A>C (n.7294-2A>C)
c.686-2A>C
c.4746-2A>C
c.1741-2A>C (n.1741-2A>C)
c.7675-2A>C (n.7675-2A>C)
c.896-30143A>C
c.2506-2A>C (n.2506-2A>C)
c.7549-2A>C (n.7549-2A>C)
n.1478-2A>C
c.7678-2A>C (n.7678-2A>C)
2g.73489632A>GCA1714316ALMS1c.7294-2A>G (n.7294-2A>G)
c.686-2A>G
c.4746-2A>G
c.1741-2A>G (n.1741-2A>G)
c.7675-2A>G (n.7675-2A>G)
c.896-30143A>G
c.2506-2A>G (n.2506-2A>G)
c.7549-2A>G (n.7549-2A>G)
n.1478-2A>G
c.7678-2A>G (n.7678-2A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489632A>TCA347263822ALMS1c.7294-2A>T (n.7294-2A>T)
c.686-2A>T
c.4746-2A>T
c.1741-2A>T (n.1741-2A>T)
c.7675-2A>T (n.7675-2A>T)
c.896-30143A>T
c.2506-2A>T (n.2506-2A>T)
c.7549-2A>T (n.7549-2A>T)
n.1478-2A>T
c.7678-2A>T (n.7678-2A>T)
2g.73489633G>ACA347263823ALMS1c.7294-1G>A (n.7294-1G>A)
c.686-1G>A
c.4746-1G>A
c.1741-1G>A (n.1741-1G>A)
c.7675-1G>A (n.7675-1G>A)
c.896-30142G>A
c.2506-1G>A (n.2506-1G>A)
c.7549-1G>A (n.7549-1G>A)
n.1478-1G>A
c.7678-1G>A (n.7678-1G>A)
2g.73489633G>CCA347263824ALMS1c.7294-1G>C (n.7294-1G>C)
c.686-1G>C
c.4746-1G>C
c.1741-1G>C (n.1741-1G>C)
c.7675-1G>C (n.7675-1G>C)
c.896-30142G>C
c.2506-1G>C (n.2506-1G>C)
c.7549-1G>C (n.7549-1G>C)
n.1478-1G>C
c.7678-1G>C (n.7678-1G>C)
2g.73489633G>TCA347263825ALMS1c.7294-1G>T (n.7294-1G>T)
c.686-1G>T
c.4746-1G>T
c.1741-1G>T (n.1741-1G>T)
c.7675-1G>T (n.7675-1G>T)
c.896-30142G>T
c.2506-1G>T (n.2506-1G>T)
c.7549-1G>T (n.7549-1G>T)
n.1478-1G>T
c.7678-1G>T (n.7678-1G>T)
2g.73489634G>ACA347263826ALMS1c.7294G>A (p.Gly2432Ser)
c.686G>A
c.4746G>A
c.1741G>A (p.Gly581Ser)
c.7675G>A (p.Gly2559Ser)
c.896-30141G>A
c.2506G>A (p.Gly836Ser)
c.7549G>A (p.Gly2517Ser)
n.1478G>A
c.7678G>A (p.Gly2560Ser)
 gnomAD v4
2g.73489634G>CCA347263827ALMS1c.7294G>C (p.Gly2432Arg)
c.686G>C
c.4746G>C
c.1741G>C (p.Gly581Arg)
c.7675G>C (p.Gly2559Arg)
c.896-30141G>C
c.2506G>C (p.Gly836Arg)
c.7549G>C (p.Gly2517Arg)
n.1478G>C
c.7678G>C (p.Gly2560Arg)
 dbSNP
2g.73489634G=CA1260981076ALMS1c.7294G= (p.Gly2432=)
c.686G=
c.4746G=
c.1741G= (p.Gly581=)
c.7675G= (p.Gly2559=)
c.896-30141G=
c.2506G= (p.Gly836=)
c.7549G= (p.Gly2517=)
n.1478G=
c.7678G= (p.Gly2560=)
2g.73489634G>TCA347263828ALMS1c.7294G>T (p.Gly2432Cys)
c.686G>T
c.4746G>T
c.1741G>T (p.Gly581Cys)
c.7675G>T (p.Gly2559Cys)
c.896-30141G>T
c.2506G>T (p.Gly836Cys)
c.7549G>T (p.Gly2517Cys)
n.1478G>T
c.7678G>T (p.Gly2560Cys)
2g.73489635G>ACA347263829ALMS1c.7295G>A (p.Gly2432Asp)
c.687G>A
c.4747G>A
c.1742G>A (p.Gly581Asp)
c.7676G>A (p.Gly2559Asp)
c.896-30140G>A
c.2507G>A (p.Gly836Asp)
c.7550G>A (p.Gly2517Asp)
n.1479G>A
c.7679G>A (p.Gly2560Asp)
 ClinVar dbSNP
2g.73489635G>CCA347263830ALMS1c.7295G>C (p.Gly2432Ala)
c.687G>C
c.4747G>C
c.1742G>C (p.Gly581Ala)
c.7676G>C (p.Gly2559Ala)
c.896-30140G>C
c.2507G>C (p.Gly836Ala)
c.7550G>C (p.Gly2517Ala)
n.1479G>C
c.7679G>C (p.Gly2560Ala)
2g.73489635G=CA1260981077ALMS1c.7295G= (p.Gly2432=)
c.687G=
c.4747G=
c.1742G= (p.Gly581=)
c.7676G= (p.Gly2559=)
c.896-30140G=
c.2507G= (p.Gly836=)
c.7550G= (p.Gly2517=)
n.1479G=
c.7679G= (p.Gly2560=)
2g.73489635G>TCA347263831ALMS1c.7295G>T (p.Gly2432Val)
c.687G>T
c.4747G>T
c.1742G>T (p.Gly581Val)
c.7676G>T (p.Gly2559Val)
c.896-30140G>T
c.2507G>T (p.Gly836Val)
c.7550G>T (p.Gly2517Val)
n.1479G>T
c.7679G>T (p.Gly2560Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73489636T>ACA426765128ALMS1c.7296T>A (p.Gly2432=)
c.688T>A
c.4748T>A
c.1743T>A (p.Gly581=)
c.7677T>A (p.Gly2559=)
c.896-30139T>A
c.2508T>A (p.Gly836=)
c.7551T>A (p.Gly2517=)
n.1480T>A
c.7680T>A (p.Gly2560=)
2g.73489636T>CCA426765125ALMS1c.7296T>C (p.Gly2432=)
c.688T>C
c.4748T>C
c.1743T>C (p.Gly581=)
c.7677T>C (p.Gly2559=)
c.896-30139T>C
c.2508T>C (p.Gly836=)
c.7551T>C (p.Gly2517=)
n.1480T>C
c.7680T>C (p.Gly2560=)
2g.73489636T>GCA426765123ALMS1c.7296T>G (p.Gly2432=)
c.688T>G
c.4748T>G
c.1743T>G (p.Gly581=)
c.7677T>G (p.Gly2559=)
c.896-30139T>G
c.2508T>G (p.Gly836=)
c.7551T>G (p.Gly2517=)
n.1480T>G
c.7680T>G (p.Gly2560=)
2g.73489638delCA2750465612ALMS1c.7298del (p.Leu2433TyrfsTer?)
c.690del
c.4750del
c.1745del (p.Leu582TyrfsTer?)
c.7679del (p.Leu2560TyrfsTer?)
c.896-30137del
c.2510del (p.Leu837TyrfsTer?)
c.7553del (p.Leu2518TyrfsTer?)
n.1482del
c.7682del (p.Leu2561TyrfsTer?)
2g.73489637T>ACA347263833ALMS1c.7297T>A (p.Leu2433Ile)
c.689T>A
c.4749T>A
c.1744T>A (p.Leu582Ile)
c.7678T>A (p.Leu2560Ile)
c.896-30138T>A
c.2509T>A (p.Leu837Ile)
c.7552T>A (p.Leu2518Ile)
n.1481T>A
c.7681T>A (p.Leu2561Ile)
2g.73489637T>CCA426765130ALMS1c.7297T>C (p.Leu2433=)
c.689T>C
c.4749T>C
c.1744T>C (p.Leu582=)
c.7678T>C (p.Leu2560=)
c.896-30138T>C
c.2509T>C (p.Leu837=)
c.7552T>C (p.Leu2518=)
n.1481T>C
c.7681T>C (p.Leu2561=)
2g.73489637T>GCA347263832ALMS1c.7297T>G (p.Leu2433Val)
c.689T>G
c.4749T>G
c.1744T>G (p.Leu582Val)
c.7678T>G (p.Leu2560Val)
c.896-30138T>G
c.2509T>G (p.Leu837Val)
c.7552T>G (p.Leu2518Val)
n.1481T>G
c.7681T>G (p.Leu2561Val)
 dbSNP gnomAD v4
2g.73489637T=CA1260981078ALMS1c.7297T= (p.Leu2433=)
c.689T=
c.4749T=
c.1744T= (p.Leu582=)
c.7678T= (p.Leu2560=)
c.896-30138T=
c.2509T= (p.Leu837=)
c.7552T= (p.Leu2518=)
n.1481T=
c.7681T= (p.Leu2561=)
2g.73489638T>ACA347263834ALMS1c.7298T>A (p.Leu2433Ter)
c.690T>A
c.4750T>A
c.1745T>A (p.Leu582Ter)
c.7679T>A (p.Leu2560Ter)
c.896-30137T>A
c.2510T>A (p.Leu837Ter)
c.7553T>A (p.Leu2518Ter)
n.1482T>A
c.7682T>A (p.Leu2561Ter)
2g.73489638T>CCA347263835ALMS1c.7298T>C (p.Leu2433Ser)
c.690T>C
c.4750T>C
c.1745T>C (p.Leu582Ser)
c.7679T>C (p.Leu2560Ser)
c.896-30137T>C
c.2510T>C (p.Leu837Ser)
c.7553T>C (p.Leu2518Ser)
n.1482T>C
c.7682T>C (p.Leu2561Ser)
2g.73489638T>GCA347263836ALMS1c.7298T>G (p.Leu2433Ter)
c.690T>G
c.4750T>G
c.1745T>G (p.Leu582Ter)
c.7679T>G (p.Leu2560Ter)
c.896-30137T>G
c.2510T>G (p.Leu837Ter)
c.7553T>G (p.Leu2518Ter)
n.1482T>G
c.7682T>G (p.Leu2561Ter)
2g.73489639A>CCA347263837ALMS1c.7299A>C (p.Leu2433Phe)
c.691A>C
c.4751A>C
c.1746A>C (p.Leu582Phe)
c.7680A>C (p.Leu2560Phe)
c.896-30136A>C
c.2511A>C (p.Leu837Phe)
c.7554A>C (p.Leu2518Phe)
n.1483A>C
c.7683A>C (p.Leu2561Phe)
2g.73489639A>GCA426765133ALMS1c.7299A>G (p.Leu2433=)
c.691A>G
c.4751A>G
c.1746A>G (p.Leu582=)
c.7680A>G (p.Leu2560=)
c.896-30136A>G
c.2511A>G (p.Leu837=)
c.7554A>G (p.Leu2518=)
n.1483A>G
c.7683A>G (p.Leu2561=)
2g.73489639A>TCA347263838ALMS1c.7299A>T (p.Leu2433Phe)
c.691A>T
c.4751A>T
c.1746A>T (p.Leu582Phe)
c.7680A>T (p.Leu2560Phe)
c.896-30136A>T
c.2511A>T (p.Leu837Phe)
c.7554A>T (p.Leu2518Phe)
n.1483A>T
c.7683A>T (p.Leu2561Phe)
2g.73489640C>ACA347263839ALMS1c.7300C>A (p.Gln2434Lys)
c.692C>A
c.4752C>A
c.1747C>A (p.Gln583Lys)
c.7681C>A (p.Gln2561Lys)
c.896-30135C>A
c.2512C>A (p.Gln838Lys)
c.7555C>A (p.Gln2519Lys)
n.1484C>A
c.7684C>A (p.Gln2562Lys)
 ClinVar
2g.73489640C>GCA347263840ALMS1c.7300C>G (p.Gln2434Glu)
c.692C>G
c.4752C>G
c.1747C>G (p.Gln583Glu)
c.7681C>G (p.Gln2561Glu)
c.896-30135C>G
c.2512C>G (p.Gln838Glu)
c.7555C>G (p.Gln2519Glu)
n.1484C>G
c.7684C>G (p.Gln2562Glu)
 ClinVar gnomAD v4
2g.73489640C>TCA347263841ALMS1c.7300C>T (p.Gln2434Ter)
c.692C>T
c.4752C>T
c.1747C>T (p.Gln583Ter)
c.7681C>T (p.Gln2561Ter)
c.896-30135C>T
c.2512C>T (p.Gln838Ter)
c.7555C>T (p.Gln2519Ter)
n.1484C>T
c.7684C>T (p.Gln2562Ter)
 gnomAD v4
2g.73489641A>CCA347263842ALMS1c.7301A>C (p.Gln2434Pro)
c.693A>C
c.4753A>C
c.1748A>C (p.Gln583Pro)
c.7682A>C (p.Gln2561Pro)
c.896-30134A>C
c.2513A>C (p.Gln838Pro)
c.7556A>C (p.Gln2519Pro)
n.1485A>C
c.7685A>C (p.Gln2562Pro)
2g.73489641A>GCA347263843ALMS1c.7301A>G (p.Gln2434Arg)
c.693A>G
c.4753A>G
c.1748A>G (p.Gln583Arg)
c.7682A>G (p.Gln2561Arg)
c.896-30134A>G
c.2513A>G (p.Gln838Arg)
c.7556A>G (p.Gln2519Arg)
n.1485A>G
c.7685A>G (p.Gln2562Arg)
 ClinVar gnomAD v4
2g.73489641A>TCA347263844ALMS1c.7301A>T (p.Gln2434Leu)
c.693A>T
c.4753A>T
c.1748A>T (p.Gln583Leu)
c.7682A>T (p.Gln2561Leu)
c.896-30134A>T
c.2513A>T (p.Gln838Leu)
c.7556A>T (p.Gln2519Leu)
n.1485A>T
c.7685A>T (p.Gln2562Leu)
 ClinVar gnomAD v4
2g.73489642G>ACA426765155ALMS1c.7302G>A (p.Gln2434=)
c.694G>A
c.4754G>A
c.1749G>A (p.Gln583=)
c.7683G>A (p.Gln2561=)
c.896-30133G>A
c.2514G>A (p.Gln838=)
c.7557G>A (p.Gln2519=)
n.1486G>A
c.7686G>A (p.Gln2562=)
2g.73489642G>CCA347263845ALMS1c.7302G>C (p.Gln2434His)
c.694G>C
c.4754G>C
c.1749G>C (p.Gln583His)
c.7683G>C (p.Gln2561His)
c.896-30133G>C
c.2514G>C (p.Gln838His)
c.7557G>C (p.Gln2519His)
n.1486G>C
c.7686G>C (p.Gln2562His)
2g.73489642G>TCA347263846ALMS1c.7302G>T (p.Gln2434His)
c.694G>T
c.4754G>T
c.1749G>T (p.Gln583His)
c.7683G>T (p.Gln2561His)
c.896-30133G>T
c.2514G>T (p.Gln838His)
c.7557G>T (p.Gln2519His)
n.1486G>T
c.7686G>T (p.Gln2562His)
2g.73489643A=CA1260981079ALMS1c.7303A= (p.Ser2435=)
c.695A=
c.4755A=
c.1750A= (p.Ser584=)
c.7684A= (p.Ser2562=)
c.896-30132A=
c.2515A= (p.Ser839=)
c.7558A= (p.Ser2520=)
n.1487A=
c.7687A= (p.Ser2563=)
2g.73489643A>CCA347263847ALMS1c.7303A>C (p.Ser2435Arg)
c.695A>C
c.4755A>C
c.1750A>C (p.Ser584Arg)
c.7684A>C (p.Ser2562Arg)
c.896-30132A>C
c.2515A>C (p.Ser839Arg)
c.7558A>C (p.Ser2520Arg)
n.1487A>C
c.7687A>C (p.Ser2563Arg)
 ClinVar dbSNP gnomAD v4
2g.73489643A>GCA1714317ALMS1c.7303A>G (p.Ser2435Gly)
c.695A>G
c.4755A>G
c.1750A>G (p.Ser584Gly)
c.7684A>G (p.Ser2562Gly)
c.896-30132A>G
c.2515A>G (p.Ser839Gly)
c.7558A>G (p.Ser2520Gly)
n.1487A>G
c.7687A>G (p.Ser2563Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489643A>TCA347263848ALMS1c.7303A>T (p.Ser2435Cys)
c.695A>T
c.4755A>T
c.1750A>T (p.Ser584Cys)
c.7684A>T (p.Ser2562Cys)
c.896-30132A>T
c.2515A>T (p.Ser839Cys)
c.7558A>T (p.Ser2520Cys)
n.1487A>T
c.7687A>T (p.Ser2563Cys)
2g.73489644G>ACA347263849ALMS1c.7304G>A (p.Ser2435Asn)
c.696G>A
c.4756G>A
c.1751G>A (p.Ser584Asn)
c.7685G>A (p.Ser2562Asn)
c.896-30131G>A
c.2516G>A (p.Ser839Asn)
c.7559G>A (p.Ser2520Asn)
n.1488G>A
c.7688G>A (p.Ser2563Asn)
 ClinVar dbSNP
2g.73489644G>CCA347263851ALMS1c.7304G>C (p.Ser2435Thr)
c.696G>C
c.4756G>C
c.1751G>C (p.Ser584Thr)
c.7685G>C (p.Ser2562Thr)
c.896-30131G>C
c.2516G>C (p.Ser839Thr)
c.7559G>C (p.Ser2520Thr)
n.1488G>C
c.7688G>C (p.Ser2563Thr)
2g.73489644G=CA1260981080ALMS1c.7304G= (p.Ser2435=)
c.696G=
c.4756G=
c.1751G= (p.Ser584=)
c.7685G= (p.Ser2562=)
c.896-30131G=
c.2516G= (p.Ser839=)
c.7559G= (p.Ser2520=)
n.1488G=
c.7688G= (p.Ser2563=)
2g.73489644G>TCA347263850ALMS1c.7304G>T (p.Ser2435Ile)
c.696G>T
c.4756G>T
c.1751G>T (p.Ser584Ile)
c.7685G>T (p.Ser2562Ile)
c.896-30131G>T
c.2516G>T (p.Ser839Ile)
c.7559G>T (p.Ser2520Ile)
n.1488G>T
c.7688G>T (p.Ser2563Ile)
2g.73489645T>ACA347263852ALMS1c.7305T>A (p.Ser2435Arg)
c.697T>A
c.4757T>A
c.1752T>A (p.Ser584Arg)
c.7686T>A (p.Ser2562Arg)
c.896-30130T>A
c.2517T>A (p.Ser839Arg)
c.7560T>A (p.Ser2520Arg)
n.1489T>A
c.7689T>A (p.Ser2563Arg)
2g.73489645T>CCA426765169ALMS1c.7305T>C (p.Ser2435=)
c.697T>C
c.4757T>C
c.1752T>C (p.Ser584=)
c.7686T>C (p.Ser2562=)
c.896-30130T>C
c.2517T>C (p.Ser839=)
c.7560T>C (p.Ser2520=)
n.1489T>C
c.7689T>C (p.Ser2563=)
 dbSNP
2g.73489645T>GCA1714318ALMS1c.7305T>G (p.Ser2435Arg)
c.697T>G
c.4757T>G
c.1752T>G (p.Ser584Arg)
c.7686T>G (p.Ser2562Arg)
c.896-30130T>G
c.2517T>G (p.Ser839Arg)
c.7560T>G (p.Ser2520Arg)
n.1489T>G
c.7689T>G (p.Ser2563Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489645T=CA1260981081ALMS1c.7305T= (p.Ser2435=)
c.697T=
c.4757T=
c.1752T= (p.Ser584=)
c.7686T= (p.Ser2562=)
c.896-30130T=
c.2517T= (p.Ser839=)
c.7560T= (p.Ser2520=)
n.1489T=
c.7689T= (p.Ser2563=)
2g.73489646C>ACA347263853ALMS1c.7306C>A (p.Pro2436Thr)
c.698C>A
c.4758C>A
c.1753C>A (p.Pro585Thr)
c.7687C>A (p.Pro2563Thr)
c.896-30129C>A
c.2518C>A (p.Pro840Thr)
c.7561C>A (p.Pro2521Thr)
n.1490C>A
c.7690C>A (p.Pro2564Thr)
2g.73489646C>GCA347263854ALMS1c.7306C>G (p.Pro2436Ala)
c.698C>G
c.4758C>G
c.1753C>G (p.Pro585Ala)
c.7687C>G (p.Pro2563Ala)
c.896-30129C>G
c.2518C>G (p.Pro840Ala)
c.7561C>G (p.Pro2521Ala)
n.1490C>G
c.7690C>G (p.Pro2564Ala)
2g.73489646C>TCA347263855ALMS1c.7306C>T (p.Pro2436Ser)
c.698C>T
c.4758C>T
c.1753C>T (p.Pro585Ser)
c.7687C>T (p.Pro2563Ser)
c.896-30129C>T
c.2518C>T (p.Pro840Ser)
c.7561C>T (p.Pro2521Ser)
n.1490C>T
c.7690C>T (p.Pro2564Ser)
 gnomAD v4
2g.73489647C>ACA347263856ALMS1c.7307C>A (p.Pro2436Gln)
c.699C>A
c.4759C>A
c.1754C>A (p.Pro585Gln)
c.7688C>A (p.Pro2563Gln)
c.896-30128C>A
c.2519C>A (p.Pro840Gln)
c.7562C>A (p.Pro2521Gln)
n.1491C>A
c.7691C>A (p.Pro2564Gln)
2g.73489647C=CA1260981082ALMS1c.7307C= (p.Pro2436=)
c.699C=
c.4759C=
c.1754C= (p.Pro585=)
c.7688C= (p.Pro2563=)
c.896-30128C=
c.2519C= (p.Pro840=)
c.7562C= (p.Pro2521=)
n.1491C=
c.7691C= (p.Pro2564=)
2g.73489647C>GCA1714320ALMS1c.7307C>G (p.Pro2436Arg)
c.699C>G
c.4759C>G
c.1754C>G (p.Pro585Arg)
c.7688C>G (p.Pro2563Arg)
c.896-30128C>G
c.2519C>G (p.Pro840Arg)
c.7562C>G (p.Pro2521Arg)
n.1491C>G
c.7691C>G (p.Pro2564Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489647C>TCA1714319ALMS1c.7307C>T (p.Pro2436Leu)
c.699C>T
c.4759C>T
c.1754C>T (p.Pro585Leu)
c.7688C>T (p.Pro2563Leu)
c.896-30128C>T
c.2519C>T (p.Pro840Leu)
c.7562C>T (p.Pro2521Leu)
n.1491C>T
c.7691C>T (p.Pro2564Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489648A>CCA426765182ALMS1c.7308A>C (p.Pro2436=)
c.700A>C
c.4760A>C
c.1755A>C (p.Pro585=)
c.7689A>C (p.Pro2563=)
c.896-30127A>C
c.2520A>C (p.Pro840=)
c.7563A>C (p.Pro2521=)
n.1492A>C
c.7692A>C (p.Pro2564=)
2g.73489648A>GCA426765185ALMS1c.7308A>G (p.Pro2436=)
c.700A>G
c.4760A>G
c.1755A>G (p.Pro585=)
c.7689A>G (p.Pro2563=)
c.896-30127A>G
c.2520A>G (p.Pro840=)
c.7563A>G (p.Pro2521=)
n.1492A>G
c.7692A>G (p.Pro2564=)
2g.73489648A>TCA426765186ALMS1c.7308A>T (p.Pro2436=)
c.700A>T
c.4760A>T
c.1755A>T (p.Pro585=)
c.7689A>T (p.Pro2563=)
c.896-30127A>T
c.2520A>T (p.Pro840=)
c.7563A>T (p.Pro2521=)
n.1492A>T
c.7692A>T (p.Pro2564=)
2g.73489649C>ACA426765192ALMS1c.7309C>A (p.Arg2437=)
c.701C>A
c.4761C>A
c.1756C>A (p.Arg586=)
c.7690C>A (p.Arg2564=)
c.896-30126C>A
c.2521C>A (p.Arg841=)
c.7564C>A (p.Arg2522=)
n.1493C>A
c.7693C>A (p.Arg2565=)
2g.73489649C=CA1260981083ALMS1c.7309C= (p.Arg2437=)
c.701C=
c.4761C=
c.1756C= (p.Arg586=)
c.7690C= (p.Arg2564=)
c.896-30126C=
c.2521C= (p.Arg841=)
c.7564C= (p.Arg2522=)
n.1493C=
c.7693C= (p.Arg2565=)
2g.73489649C>GCA347263857ALMS1c.7309C>G (p.Arg2437Gly)
c.701C>G
c.4761C>G
c.1756C>G (p.Arg586Gly)
c.7690C>G (p.Arg2564Gly)
c.896-30126C>G
c.2521C>G (p.Arg841Gly)
c.7564C>G (p.Arg2522Gly)
n.1493C>G
c.7693C>G (p.Arg2565Gly)
 ClinVar dbSNP
2g.73489649C>TCA1714321ALMS1c.7309C>T (p.Arg2437Trp)
c.701C>T
c.4761C>T
c.1756C>T (p.Arg586Trp)
c.7690C>T (p.Arg2564Trp)
c.896-30126C>T
c.2521C>T (p.Arg841Trp)
c.7564C>T (p.Arg2522Trp)
n.1493C>T
c.7693C>T (p.Arg2565Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489650G>ACA1714322ALMS1c.7310G>A (p.Arg2437Gln)
c.702G>A
c.4762G>A
c.1757G>A (p.Arg586Gln)
c.7691G>A (p.Arg2564Gln)
c.896-30125G>A
c.2522G>A (p.Arg841Gln)
c.7565G>A (p.Arg2522Gln)
n.1494G>A
c.7694G>A (p.Arg2565Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489650G>CCA347263858ALMS1c.7310G>C (p.Arg2437Pro)
c.702G>C
c.4762G>C
c.1757G>C (p.Arg586Pro)
c.7691G>C (p.Arg2564Pro)
c.896-30125G>C
c.2522G>C (p.Arg841Pro)
c.7565G>C (p.Arg2522Pro)
n.1494G>C
c.7694G>C (p.Arg2565Pro)
2g.73489650G=CA1260981084ALMS1c.7310G= (p.Arg2437=)
c.702G=
c.4762G=
c.1757G= (p.Arg586=)
c.7691G= (p.Arg2564=)
c.896-30125G=
c.2522G= (p.Arg841=)
c.7565G= (p.Arg2522=)
n.1494G=
c.7694G= (p.Arg2565=)
2g.73489650G>TCA347263859ALMS1c.7310G>T (p.Arg2437Leu)
c.702G>T
c.4762G>T
c.1757G>T (p.Arg586Leu)
c.7691G>T (p.Arg2564Leu)
c.896-30125G>T
c.2522G>T (p.Arg841Leu)
c.7565G>T (p.Arg2522Leu)
n.1494G>T
c.7694G>T (p.Arg2565Leu)
 gnomAD v4
2g.73489651G>ACA426765200ALMS1c.7311G>A (p.Arg2437=)
c.703G>A
c.4763G>A
c.1758G>A (p.Arg586=)
c.7692G>A (p.Arg2564=)
c.896-30124G>A
c.2523G>A (p.Arg841=)
c.7566G>A (p.Arg2522=)
n.1495G>A
c.7695G>A (p.Arg2565=)
2g.73489651G>CCA1714323ALMS1c.7311G>C (p.Arg2437=)
c.703G>C
c.4763G>C
c.1758G>C (p.Arg586=)
c.7692G>C (p.Arg2564=)
c.896-30124G>C
c.2523G>C (p.Arg841=)
c.7566G>C (p.Arg2522=)
n.1495G>C
c.7695G>C (p.Arg2565=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489651G=CA1260981085ALMS1c.7311G= (p.Arg2437=)
c.703G=
c.4763G=
c.1758G= (p.Arg586=)
c.7692G= (p.Arg2564=)
c.896-30124G=
c.2523G= (p.Arg841=)
c.7566G= (p.Arg2522=)
n.1495G=
c.7695G= (p.Arg2565=)
2g.73489651G>TCA426765202ALMS1c.7311G>T (p.Arg2437=)
c.703G>T
c.4763G>T
c.1758G>T (p.Arg586=)
c.7692G>T (p.Arg2564=)
c.896-30124G>T
c.2523G>T (p.Arg841=)
c.7566G>T (p.Arg2522=)
n.1495G>T
c.7695G>T (p.Arg2565=)
2g.73489652G>ACA347263860ALMS1c.7312G>A (p.Gly2438Arg)
c.704G>A
c.4764G>A
c.1759G>A (p.Gly587Arg)
c.7693G>A (p.Gly2565Arg)
c.896-30123G>A
c.2524G>A (p.Gly842Arg)
c.7567G>A (p.Gly2523Arg)
n.1496G>A
c.7696G>A (p.Gly2566Arg)
 gnomAD v4
2g.73489652G>CCA347263861ALMS1c.7312G>C (p.Gly2438Arg)
c.704G>C
c.4764G>C
c.1759G>C (p.Gly587Arg)
c.7693G>C (p.Gly2565Arg)
c.896-30123G>C
c.2524G>C (p.Gly842Arg)
c.7567G>C (p.Gly2523Arg)
n.1496G>C
c.7696G>C (p.Gly2566Arg)
 dbSNP gnomAD v4
2g.73489652G=CA1260981086ALMS1c.7312G= (p.Gly2438=)
c.704G=
c.4764G=
c.1759G= (p.Gly587=)
c.7693G= (p.Gly2565=)
c.896-30123G=
c.2524G= (p.Gly842=)
c.7567G= (p.Gly2523=)
n.1496G=
c.7696G= (p.Gly2566=)
2g.73489652G>TCA347263862ALMS1c.7312G>T (p.Gly2438Ter)
c.704G>T
c.4764G>T
c.1759G>T (p.Gly587Ter)
c.7693G>T (p.Gly2565Ter)
c.896-30123G>T
c.2524G>T (p.Gly842Ter)
c.7567G>T (p.Gly2523Ter)
n.1496G>T
c.7696G>T (p.Gly2566Ter)
2g.73489653G>ACA50377301ALMS1c.7313G>A (p.Gly2438Glu)
c.705G>A
c.4765G>A
c.1760G>A (p.Gly587Glu)
c.7694G>A (p.Gly2565Glu)
c.896-30122G>A
c.2525G>A (p.Gly842Glu)
c.7568G>A (p.Gly2523Glu)
n.1497G>A
c.7697G>A (p.Gly2566Glu)
 dbSNP
2g.73489653G>CCA347263863ALMS1c.7313G>C (p.Gly2438Ala)
c.705G>C
c.4765G>C
c.1760G>C (p.Gly587Ala)
c.7694G>C (p.Gly2565Ala)
c.896-30122G>C
c.2525G>C (p.Gly842Ala)
c.7568G>C (p.Gly2523Ala)
n.1497G>C
c.7697G>C (p.Gly2566Ala)
2g.73489653G=CA1260981087ALMS1c.7313G= (p.Gly2438=)
c.705G=
c.4765G=
c.1760G= (p.Gly587=)
c.7694G= (p.Gly2565=)
c.896-30122G=
c.2525G= (p.Gly842=)
c.7568G= (p.Gly2523=)
n.1497G=
c.7697G= (p.Gly2566=)
2g.73489653G>TCA347263864ALMS1c.7313G>T (p.Gly2438Val)
c.705G>T
c.4765G>T
c.1760G>T (p.Gly587Val)
c.7694G>T (p.Gly2565Val)
c.896-30122G>T
c.2525G>T (p.Gly842Val)
c.7568G>T (p.Gly2523Val)
n.1497G>T
c.7697G>T (p.Gly2566Val)
2g.73489654A=CA1260981088ALMS1c.7314A= (p.Gly2438=)
c.706A=
c.4766A=
c.1761A= (p.Gly587=)
c.7695A= (p.Gly2565=)
c.896-30121A=
c.2526A= (p.Gly842=)
c.7569A= (p.Gly2523=)
n.1498A=
c.7698A= (p.Gly2566=)
2g.73489654A>CCA426765214ALMS1c.7314A>C (p.Gly2438=)
c.706A>C
c.4766A>C
c.1761A>C (p.Gly587=)
c.7695A>C (p.Gly2565=)
c.896-30121A>C
c.2526A>C (p.Gly842=)
c.7569A>C (p.Gly2523=)
n.1498A>C
c.7698A>C (p.Gly2566=)
 ClinVar dbSNP
2g.73489654A>GCA50377316ALMS1c.7314A>G (p.Gly2438=)
c.706A>G
c.4766A>G
c.1761A>G (p.Gly587=)
c.7695A>G (p.Gly2565=)
c.896-30121A>G
c.2526A>G (p.Gly842=)
c.7569A>G (p.Gly2523=)
n.1498A>G
c.7698A>G (p.Gly2566=)
 dbSNP gnomAD v4
2g.73489654A>TCA426765217ALMS1c.7314A>T (p.Gly2438=)
c.706A>T
c.4766A>T
c.1761A>T (p.Gly587=)
c.7695A>T (p.Gly2565=)
c.896-30121A>T
c.2526A>T (p.Gly842=)
c.7569A>T (p.Gly2523=)
n.1498A>T
c.7698A>T (p.Gly2566=)
2g.73489655A>CCA347263865ALMS1c.7315A>C (p.Met2439Leu)
c.707A>C
c.4767A>C
c.1762A>C (p.Met588Leu)
c.7696A>C (p.Met2566Leu)
c.896-30120A>C
c.2527A>C (p.Met843Leu)
c.7570A>C (p.Met2524Leu)
n.1499A>C
c.7699A>C (p.Met2567Leu)
2g.73489655A>GCA347263866ALMS1c.7315A>G (p.Met2439Val)
c.707A>G
c.4767A>G
c.1762A>G (p.Met588Val)
c.7696A>G (p.Met2566Val)
c.896-30120A>G
c.2527A>G (p.Met843Val)
c.7570A>G (p.Met2524Val)
n.1499A>G
c.7699A>G (p.Met2567Val)
 dbSNP
2g.73489655A>TCA347263867ALMS1c.7315A>T (p.Met2439Leu)
c.707A>T
c.4767A>T
c.1762A>T (p.Met588Leu)
c.7696A>T (p.Met2566Leu)
c.896-30120A>T
c.2527A>T (p.Met843Leu)
c.7570A>T (p.Met2524Leu)
n.1499A>T
c.7699A>T (p.Met2567Leu)
2g.73489656T>ACA347263868ALMS1c.7316T>A (p.Met2439Lys)
c.708T>A
c.4768T>A
c.1763T>A (p.Met588Lys)
c.7697T>A (p.Met2566Lys)
c.896-30119T>A
c.2528T>A (p.Met843Lys)
c.7571T>A (p.Met2524Lys)
n.1500T>A
c.7700T>A (p.Met2567Lys)
2g.73489656T>CCA1714324ALMS1c.7316T>C (p.Met2439Thr)
c.708T>C
c.4768T>C
c.1763T>C (p.Met588Thr)
c.7697T>C (p.Met2566Thr)
c.896-30119T>C
c.2528T>C (p.Met843Thr)
c.7571T>C (p.Met2524Thr)
n.1500T>C
c.7700T>C (p.Met2567Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489656T>GCA347263869ALMS1c.7316T>G (p.Met2439Arg)
c.708T>G
c.4768T>G
c.1763T>G (p.Met588Arg)
c.7697T>G (p.Met2566Arg)
c.896-30119T>G
c.2528T>G (p.Met843Arg)
c.7571T>G (p.Met2524Arg)
n.1500T>G
c.7700T>G (p.Met2567Arg)
2g.73489656T=CA1260981089ALMS1c.7316T= (p.Met2439=)
c.708T=
c.4768T=
c.1763T= (p.Met588=)
c.7697T= (p.Met2566=)
c.896-30119T=
c.2528T= (p.Met843=)
c.7571T= (p.Met2524=)
n.1500T=
c.7700T= (p.Met2567=)
2g.73489657G>ACA347263872ALMS1c.7317G>A (p.Met2439Ile)
c.709G>A
c.4769G>A
c.1764G>A (p.Met588Ile)
c.7698G>A (p.Met2566Ile)
c.896-30118G>A
c.2529G>A (p.Met843Ile)
c.7572G>A (p.Met2524Ile)
n.1501G>A
c.7701G>A (p.Met2567Ile)
2g.73489657G>CCA347263871ALMS1c.7317G>C (p.Met2439Ile)
c.709G>C
c.4769G>C
c.1764G>C (p.Met588Ile)
c.7698G>C (p.Met2566Ile)
c.896-30118G>C
c.2529G>C (p.Met843Ile)
c.7572G>C (p.Met2524Ile)
n.1501G>C
c.7701G>C (p.Met2567Ile)
2g.73489657G>TCA347263870ALMS1c.7317G>T (p.Met2439Ile)
c.709G>T
c.4769G>T
c.1764G>T (p.Met588Ile)
c.7698G>T (p.Met2566Ile)
c.896-30118G>T
c.2529G>T (p.Met843Ile)
c.7572G>T (p.Met2524Ile)
n.1501G>T
c.7701G>T (p.Met2567Ile)
2g.73489658G>ACA347263875ALMS1c.7318G>A (p.Gly2440Arg)
c.710G>A
c.4770G>A
c.1765G>A (p.Gly589Arg)
c.7699G>A (p.Gly2567Arg)
c.896-30117G>A
c.2530G>A (p.Gly844Arg)
c.7573G>A (p.Gly2525Arg)
n.1502G>A
c.7702G>A (p.Gly2568Arg)
2g.73489658G>CCA347263873ALMS1c.7318G>C (p.Gly2440Arg)
c.710G>C
c.4770G>C
c.1765G>C (p.Gly589Arg)
c.7699G>C (p.Gly2567Arg)
c.896-30117G>C
c.2530G>C (p.Gly844Arg)
c.7573G>C (p.Gly2525Arg)
n.1502G>C
c.7702G>C (p.Gly2568Arg)
2g.73489658G>TCA347263874ALMS1c.7318G>T (p.Gly2440Ter)
c.710G>T
c.4770G>T
c.1765G>T (p.Gly589Ter)
c.7699G>T (p.Gly2567Ter)
c.896-30117G>T
c.2530G>T (p.Gly844Ter)
c.7573G>T (p.Gly2525Ter)
n.1502G>T
c.7702G>T (p.Gly2568Ter)
2g.73489659G>ACA347263876ALMS1c.7319G>A (p.Gly2440Glu)
c.711G>A
c.4771G>A
c.1766G>A (p.Gly589Glu)
c.7700G>A (p.Gly2567Glu)
c.896-30116G>A
c.2531G>A (p.Gly844Glu)
c.7574G>A (p.Gly2525Glu)
n.1503G>A
c.7703G>A (p.Gly2568Glu)
2g.73489659G>CCA347263877ALMS1c.7319G>C (p.Gly2440Ala)
c.711G>C
c.4771G>C
c.1766G>C (p.Gly589Ala)
c.7700G>C (p.Gly2567Ala)
c.896-30116G>C
c.2531G>C (p.Gly844Ala)
c.7574G>C (p.Gly2525Ala)
n.1503G>C
c.7703G>C (p.Gly2568Ala)
2g.73489659G=CA1260981090ALMS1c.7319G= (p.Gly2440=)
c.711G=
c.4771G=
c.1766G= (p.Gly589=)
c.7700G= (p.Gly2567=)
c.896-30116G=
c.2531G= (p.Gly844=)
c.7574G= (p.Gly2525=)
n.1503G=
c.7703G= (p.Gly2568=)
2g.73489659G>TCA1714325ALMS1c.7319G>T (p.Gly2440Val)
c.711G>T
c.4771G>T
c.1766G>T (p.Gly589Val)
c.7700G>T (p.Gly2567Val)
c.896-30116G>T
c.2531G>T (p.Gly844Val)
c.7574G>T (p.Gly2525Val)
n.1503G>T
c.7703G>T (p.Gly2568Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489660A=CA1260981091ALMS1c.7320A= (p.Gly2440=)
c.712A=
c.4772A=
c.1767A= (p.Gly589=)
c.7701A= (p.Gly2567=)
c.896-30115A=
c.2532A= (p.Gly844=)
c.7575A= (p.Gly2525=)
n.1504A=
c.7704A= (p.Gly2568=)
2g.73489660A>CCA426765234ALMS1c.7320A>C (p.Gly2440=)
c.712A>C
c.4772A>C
c.1767A>C (p.Gly589=)
c.7701A>C (p.Gly2567=)
c.896-30115A>C
c.2532A>C (p.Gly844=)
c.7575A>C (p.Gly2525=)
n.1504A>C
c.7704A>C (p.Gly2568=)
2g.73489660A>GCA426765236ALMS1c.7320A>G (p.Gly2440=)
c.712A>G
c.4772A>G
c.1767A>G (p.Gly589=)
c.7701A>G (p.Gly2567=)
c.896-30115A>G
c.2532A>G (p.Gly844=)
c.7575A>G (p.Gly2525=)
n.1504A>G
c.7704A>G (p.Gly2568=)
 ClinVar
2g.73489660A>TCA1714326ALMS1c.7320A>T (p.Gly2440=)
c.712A>T
c.4772A>T
c.1767A>T (p.Gly589=)
c.7701A>T (p.Gly2567=)
c.896-30115A>T
c.2532A>T (p.Gly844=)
c.7575A>T (p.Gly2525=)
n.1504A>T
c.7704A>T (p.Gly2568=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489661T>ACA347263880ALMS1c.7321T>A (p.Cys2441Ser)
c.713T>A
c.4773T>A
c.1768T>A (p.Cys590Ser)
c.7702T>A (p.Cys2568Ser)
c.896-30114T>A
c.2533T>A (p.Cys845Ser)
c.7576T>A (p.Cys2526Ser)
n.1505T>A
c.7705T>A (p.Cys2569Ser)
2g.73489661T>CCA347263878ALMS1c.7321T>C (p.Cys2441Arg)
c.713T>C
c.4773T>C
c.1768T>C (p.Cys590Arg)
c.7702T>C (p.Cys2568Arg)
c.896-30114T>C
c.2533T>C (p.Cys845Arg)
c.7576T>C (p.Cys2526Arg)
n.1505T>C
c.7705T>C (p.Cys2569Arg)
2g.73489661T>GCA347263879ALMS1c.7321T>G (p.Cys2441Gly)
c.713T>G
c.4773T>G
c.1768T>G (p.Cys590Gly)
c.7702T>G (p.Cys2568Gly)
c.896-30114T>G
c.2533T>G (p.Cys845Gly)
c.7576T>G (p.Cys2526Gly)
n.1505T>G
c.7705T>G (p.Cys2569Gly)
 gnomAD v4
2g.73489662G>ACA347263881ALMS1c.7322G>A (p.Cys2441Tyr)
c.714G>A
c.4774G>A
c.1769G>A (p.Cys590Tyr)
c.7703G>A (p.Cys2568Tyr)
c.896-30113G>A
c.2534G>A (p.Cys845Tyr)
c.7577G>A (p.Cys2526Tyr)
n.1506G>A
c.7706G>A (p.Cys2569Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.73489662G>CCA347263882ALMS1c.7322G>C (p.Cys2441Ser)
c.714G>C
c.4774G>C
c.1769G>C (p.Cys590Ser)
c.7703G>C (p.Cys2568Ser)
c.896-30113G>C
c.2534G>C (p.Cys845Ser)
c.7577G>C (p.Cys2526Ser)
n.1506G>C
c.7706G>C (p.Cys2569Ser)
2g.73489662G=CA1260981092ALMS1c.7322G= (p.Cys2441=)
c.714G=
c.4774G=
c.1769G= (p.Cys590=)
c.7703G= (p.Cys2568=)
c.896-30113G=
c.2534G= (p.Cys845=)
c.7577G= (p.Cys2526=)
n.1506G=
c.7706G= (p.Cys2569=)
2g.73489662G>TCA347263883ALMS1c.7322G>T (p.Cys2441Phe)
c.714G>T
c.4774G>T
c.1769G>T (p.Cys590Phe)
c.7703G>T (p.Cys2568Phe)
c.896-30113G>T
c.2534G>T (p.Cys845Phe)
c.7577G>T (p.Cys2526Phe)
n.1506G>T
c.7706G>T (p.Cys2569Phe)
2g.73489663C>ACA347263884ALMS1c.7323C>A (p.Cys2441Ter)
c.715C>A
c.4775C>A
c.1770C>A (p.Cys590Ter)
c.7704C>A (p.Cys2568Ter)
c.896-30112C>A
c.2535C>A (p.Cys845Ter)
c.7578C>A (p.Cys2526Ter)
n.1507C>A
c.7707C>A (p.Cys2569Ter)
2g.73489663C>GCA347263885ALMS1c.7323C>G (p.Cys2441Trp)
c.715C>G
c.4775C>G
c.1770C>G (p.Cys590Trp)
c.7704C>G (p.Cys2568Trp)
c.896-30112C>G
c.2535C>G (p.Cys845Trp)
c.7578C>G (p.Cys2526Trp)
n.1507C>G
c.7707C>G (p.Cys2569Trp)
2g.73489663C>TCA426765250ALMS1c.7323C>T (p.Cys2441=)
c.715C>T
c.4775C>T
c.1770C>T (p.Cys590=)
c.7704C>T (p.Cys2568=)
c.896-30112C>T
c.2535C>T (p.Cys845=)
c.7578C>T (p.Cys2526=)
n.1507C>T
c.7707C>T (p.Cys2569=)
2g.73489664A>CCA347263886ALMS1c.7324A>C (p.Lys2442Gln)
c.716A>C
c.4776A>C
c.1771A>C (p.Lys591Gln)
c.7705A>C (p.Lys2569Gln)
c.896-30111A>C
c.2536A>C (p.Lys846Gln)
c.7579A>C (p.Lys2527Gln)
n.1508A>C
c.7708A>C (p.Lys2570Gln)
2g.73489664A>GCA347263888ALMS1c.7324A>G (p.Lys2442Glu)
c.716A>G
c.4776A>G
c.1771A>G (p.Lys591Glu)
c.7705A>G (p.Lys2569Glu)
c.896-30111A>G
c.2536A>G (p.Lys846Glu)
c.7579A>G (p.Lys2527Glu)
n.1508A>G
c.7708A>G (p.Lys2570Glu)
2g.73489664A>TCA347263887ALMS1c.7324A>T (p.Lys2442Ter)
c.716A>T
c.4776A>T
c.1771A>T (p.Lys591Ter)
c.7705A>T (p.Lys2569Ter)
c.896-30111A>T
c.2536A>T (p.Lys846Ter)
c.7579A>T (p.Lys2527Ter)
n.1508A>T
c.7708A>T (p.Lys2570Ter)
2g.73489665A>CCA347263889ALMS1c.7325A>C (p.Lys2442Thr)
c.717A>C
c.4777A>C
c.1772A>C (p.Lys591Thr)
c.7706A>C (p.Lys2569Thr)
c.896-30110A>C
c.2537A>C (p.Lys846Thr)
c.7580A>C (p.Lys2527Thr)
n.1509A>C
c.7709A>C (p.Lys2570Thr)
2g.73489665A>GCA347263890ALMS1c.7325A>G (p.Lys2442Arg)
c.717A>G
c.4777A>G
c.1772A>G (p.Lys591Arg)
c.7706A>G (p.Lys2569Arg)
c.896-30110A>G
c.2537A>G (p.Lys846Arg)
c.7580A>G (p.Lys2527Arg)
n.1509A>G
c.7709A>G (p.Lys2570Arg)
2g.73489665A>TCA347263891ALMS1c.7325A>T (p.Lys2442Met)
c.717A>T
c.4777A>T
c.1772A>T (p.Lys591Met)
c.7706A>T (p.Lys2569Met)
c.896-30110A>T
c.2537A>T (p.Lys846Met)
c.7580A>T (p.Lys2527Met)
n.1509A>T
c.7709A>T (p.Lys2570Met)
2g.73489666G>ACA426765260ALMS1c.7326G>A (p.Lys2442=)
c.718G>A
c.4778G>A
c.1773G>A (p.Lys591=)
c.7707G>A (p.Lys2569=)
c.896-30109G>A
c.2538G>A (p.Lys846=)
c.7581G>A (p.Lys2527=)
n.1510G>A
c.7710G>A (p.Lys2570=)
 gnomAD v4
2g.73489666G>CCA347263892ALMS1c.7326G>C (p.Lys2442Asn)
c.718G>C
c.4778G>C
c.1773G>C (p.Lys591Asn)
c.7707G>C (p.Lys2569Asn)
c.896-30109G>C
c.2538G>C (p.Lys846Asn)
c.7581G>C (p.Lys2527Asn)
n.1510G>C
c.7710G>C (p.Lys2570Asn)
2g.73489666G>TCA347263893ALMS1c.7326G>T (p.Lys2442Asn)
c.718G>T
c.4778G>T
c.1773G>T (p.Lys591Asn)
c.7707G>T (p.Lys2569Asn)
c.896-30109G>T
c.2538G>T (p.Lys846Asn)
c.7581G>T (p.Lys2527Asn)
n.1510G>T
c.7710G>T (p.Lys2570Asn)
2g.73489667C>ACA347263894ALMS1c.7327C>A (p.Pro2443Thr)
c.719C>A
c.4779C>A
c.1774C>A (p.Pro592Thr)
c.7708C>A (p.Pro2570Thr)
c.896-30108C>A
c.2539C>A (p.Pro847Thr)
c.7582C>A (p.Pro2528Thr)
n.1511C>A
c.7711C>A (p.Pro2571Thr)
2g.73489667C>GCA347263895ALMS1c.7327C>G (p.Pro2443Ala)
c.719C>G
c.4779C>G
c.1774C>G (p.Pro592Ala)
c.7708C>G (p.Pro2570Ala)
c.896-30108C>G
c.2539C>G (p.Pro847Ala)
c.7582C>G (p.Pro2528Ala)
n.1511C>G
c.7711C>G (p.Pro2571Ala)
2g.73489667C>TCA347263896ALMS1c.7327C>T (p.Pro2443Ser)
c.719C>T
c.4779C>T
c.1774C>T (p.Pro592Ser)
c.7708C>T (p.Pro2570Ser)
c.896-30108C>T
c.2539C>T (p.Pro847Ser)
c.7582C>T (p.Pro2528Ser)
n.1511C>T
c.7711C>T (p.Pro2571Ser)
2g.73489668C>ACA347263897ALMS1c.7328C>A (p.Pro2443Gln)
c.720C>A
c.4780C>A
c.1775C>A (p.Pro592Gln)
c.7709C>A (p.Pro2570Gln)
c.896-30107C>A
c.2540C>A (p.Pro847Gln)
c.7583C>A (p.Pro2528Gln)
n.1512C>A
c.7712C>A (p.Pro2571Gln)
2g.73489668C>GCA347263898ALMS1c.7328C>G (p.Pro2443Arg)
c.720C>G
c.4780C>G
c.1775C>G (p.Pro592Arg)
c.7709C>G (p.Pro2570Arg)
c.896-30107C>G
c.2540C>G (p.Pro847Arg)
c.7583C>G (p.Pro2528Arg)
n.1512C>G
c.7712C>G (p.Pro2571Arg)
 ClinVar
2g.73489668C>TCA347263899ALMS1c.7328C>T (p.Pro2443Leu)
c.720C>T
c.4780C>T
c.1775C>T (p.Pro592Leu)
c.7709C>T (p.Pro2570Leu)
c.896-30107C>T
c.2540C>T (p.Pro847Leu)
c.7583C>T (p.Pro2528Leu)
n.1512C>T
c.7712C>T (p.Pro2571Leu)
 ClinVar
2g.73489669A=CA1260981093ALMS1c.7329A= (p.Pro2443=)
c.721A=
c.4781A=
c.1776A= (p.Pro592=)
c.7710A= (p.Pro2570=)
c.896-30106A=
c.2541A= (p.Pro847=)
c.7584A= (p.Pro2528=)
n.1513A=
c.7713A= (p.Pro2571=)
2g.73489669A>CCA1714327ALMS1c.7329A>C (p.Pro2443=)
c.721A>C
c.4781A>C
c.1776A>C (p.Pro592=)
c.7710A>C (p.Pro2570=)
c.896-30106A>C
c.2541A>C (p.Pro847=)
c.7584A>C (p.Pro2528=)
n.1513A>C
c.7713A>C (p.Pro2571=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489669A>GCA426765284ALMS1c.7329A>G (p.Pro2443=)
c.721A>G
c.4781A>G
c.1776A>G (p.Pro592=)
c.7710A>G (p.Pro2570=)
c.896-30106A>G
c.2541A>G (p.Pro847=)
c.7584A>G (p.Pro2528=)
n.1513A>G
c.7713A>G (p.Pro2571=)
 ClinVar dbSNP gnomAD v4
2g.73489669A>TCA426765285ALMS1c.7329A>T (p.Pro2443=)
c.721A>T
c.4781A>T
c.1776A>T (p.Pro592=)
c.7710A>T (p.Pro2570=)
c.896-30106A>T
c.2541A>T (p.Pro847=)
c.7584A>T (p.Pro2528=)
n.1513A>T
c.7713A>T (p.Pro2571=)
2g.73489670G>ACA347263902ALMS1c.7330G>A (p.Glu2444Lys)
c.722G>A
c.4782G>A
c.1777G>A (p.Glu593Lys)
c.7711G>A (p.Glu2571Lys)
c.896-30105G>A
c.2542G>A (p.Glu848Lys)
c.7585G>A (p.Glu2529Lys)
n.1514G>A
c.7714G>A (p.Glu2572Lys)
2g.73489670G>CCA347263901ALMS1c.7330G>C (p.Glu2444Gln)
c.722G>C
c.4782G>C
c.1777G>C (p.Glu593Gln)
c.7711G>C (p.Glu2571Gln)
c.896-30105G>C
c.2542G>C (p.Glu848Gln)
c.7585G>C (p.Glu2529Gln)
n.1514G>C
c.7714G>C (p.Glu2572Gln)
2g.73489670G>TCA347263900ALMS1c.7330G>T (p.Glu2444Ter)
c.722G>T
c.4782G>T
c.1777G>T (p.Glu593Ter)
c.7711G>T (p.Glu2571Ter)
c.896-30105G>T
c.2542G>T (p.Glu848Ter)
c.7585G>T (p.Glu2529Ter)
n.1514G>T
c.7714G>T (p.Glu2572Ter)
2g.73489671A>CCA347263903ALMS1c.7331A>C (p.Glu2444Ala)
c.723A>C
c.4783A>C
c.1778A>C (p.Glu593Ala)
c.7712A>C (p.Glu2571Ala)
c.896-30104A>C
c.2543A>C (p.Glu848Ala)
c.7586A>C (p.Glu2529Ala)
n.1515A>C
c.7715A>C (p.Glu2572Ala)
2g.73489671A>GCA347263904ALMS1c.7331A>G (p.Glu2444Gly)
c.723A>G
c.4783A>G
c.1778A>G (p.Glu593Gly)
c.7712A>G (p.Glu2571Gly)
c.896-30104A>G
c.2543A>G (p.Glu848Gly)
c.7586A>G (p.Glu2529Gly)
n.1515A>G
c.7715A>G (p.Glu2572Gly)
2g.73489671A>TCA347263905ALMS1c.7331A>T (p.Glu2444Val)
c.723A>T
c.4783A>T
c.1778A>T (p.Glu593Val)
c.7712A>T (p.Glu2571Val)
c.896-30104A>T
c.2543A>T (p.Glu848Val)
c.7586A>T (p.Glu2529Val)
n.1515A>T
c.7715A>T (p.Glu2572Val)
2g.73489672delCA2586969417ALMS1c.7332del (p.Ala2445LeufsTer19)
c.724del
c.4784del
c.1779del (p.Ala594LeufsTer19)
c.7713del (p.Ala2572LeufsTer19)
c.896-30103del
c.2544del (p.Ala849LeufsTer19)
c.7587del (p.Ala2530LeufsTer19)
n.1516del
c.7716del (p.Ala2573LeufsTer19)
2g.73489672A>CCA347263906ALMS1c.7332A>C (p.Glu2444Asp)
c.724A>C
c.4784A>C
c.1779A>C (p.Glu593Asp)
c.7713A>C (p.Glu2571Asp)
c.896-30103A>C
c.2544A>C (p.Glu848Asp)
c.7587A>C (p.Glu2529Asp)
n.1516A>C
c.7716A>C (p.Glu2572Asp)
2g.73489672A>GCA426765294ALMS1c.7332A>G (p.Glu2444=)
c.724A>G
c.4784A>G
c.1779A>G (p.Glu593=)
c.7713A>G (p.Glu2571=)
c.896-30103A>G
c.2544A>G (p.Glu848=)
c.7587A>G (p.Glu2529=)
n.1516A>G
c.7716A>G (p.Glu2572=)
 ClinVar
2g.73489672A>TCA347263907ALMS1c.7332A>T (p.Glu2444Asp)
c.724A>T
c.4784A>T
c.1779A>T (p.Glu593Asp)
c.7713A>T (p.Glu2571Asp)
c.896-30103A>T
c.2544A>T (p.Glu848Asp)
c.7587A>T (p.Glu2529Asp)
n.1516A>T
c.7716A>T (p.Glu2572Asp)
2g.73489673G>ACA347263910ALMS1c.7333G>A (p.Ala2445Thr)
c.725G>A
c.4785G>A
c.1780G>A (p.Ala594Thr)
c.7714G>A (p.Ala2572Thr)
c.896-30102G>A
c.2545G>A (p.Ala849Thr)
c.7588G>A (p.Ala2530Thr)
n.1517G>A
c.7717G>A (p.Ala2573Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73489673G>CCA347263909ALMS1c.7333G>C (p.Ala2445Pro)
c.725G>C
c.4785G>C
c.1780G>C (p.Ala594Pro)
c.7714G>C (p.Ala2572Pro)
c.896-30102G>C
c.2545G>C (p.Ala849Pro)
c.7588G>C (p.Ala2530Pro)
n.1517G>C
c.7717G>C (p.Ala2573Pro)
2g.73489673G=CA1260981094ALMS1c.7333G= (p.Ala2445=)
c.725G=
c.4785G=
c.1780G= (p.Ala594=)
c.7714G= (p.Ala2572=)
c.896-30102G=
c.2545G= (p.Ala849=)
c.7588G= (p.Ala2530=)
n.1517G=
c.7717G= (p.Ala2573=)
2g.73489673G>TCA347263908ALMS1c.7333G>T (p.Ala2445Ser)
c.725G>T
c.4785G>T
c.1780G>T (p.Ala594Ser)
c.7714G>T (p.Ala2572Ser)
c.896-30102G>T
c.2545G>T (p.Ala849Ser)
c.7588G>T (p.Ala2530Ser)
n.1517G>T
c.7717G>T (p.Ala2573Ser)
2g.73489674C>ACA347263911ALMS1c.7334C>A (p.Ala2445Asp)
c.726C>A
c.4786C>A
c.1781C>A (p.Ala594Asp)
c.7715C>A (p.Ala2572Asp)
c.896-30101C>A
c.2546C>A (p.Ala849Asp)
c.7589C>A (p.Ala2530Asp)
n.1518C>A
c.7718C>A (p.Ala2573Asp)
2g.73489674C=CA1260981095ALMS1c.7334C= (p.Ala2445=)
c.726C=
c.4786C=
c.1781C= (p.Ala594=)
c.7715C= (p.Ala2572=)
c.896-30101C=
c.2546C= (p.Ala849=)
c.7589C= (p.Ala2530=)
n.1518C=
c.7718C= (p.Ala2573=)
2g.73489674C>GCA1714328ALMS1c.7334C>G (p.Ala2445Gly)
c.726C>G
c.4786C>G
c.1781C>G (p.Ala594Gly)
c.7715C>G (p.Ala2572Gly)
c.896-30101C>G
c.2546C>G (p.Ala849Gly)
c.7589C>G (p.Ala2530Gly)
n.1518C>G
c.7718C>G (p.Ala2573Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489674C>TCA347263912ALMS1c.7334C>T (p.Ala2445Val)
c.726C>T
c.4786C>T
c.1781C>T (p.Ala594Val)
c.7715C>T (p.Ala2572Val)
c.896-30101C>T
c.2546C>T (p.Ala849Val)
c.7589C>T (p.Ala2530Val)
n.1518C>T
c.7718C>T (p.Ala2573Val)
2g.73489675T>ACA426765308ALMS1c.7335T>A (p.Ala2445=)
c.727T>A
c.4787T>A
c.1782T>A (p.Ala594=)
c.7716T>A (p.Ala2572=)
c.896-30100T>A
c.2547T>A (p.Ala849=)
c.7590T>A (p.Ala2530=)
n.1519T>A
c.7719T>A (p.Ala2573=)
2g.73489675T>CCA426765311ALMS1c.7335T>C (p.Ala2445=)
c.727T>C
c.4787T>C
c.1782T>C (p.Ala594=)
c.7716T>C (p.Ala2572=)
c.896-30100T>C
c.2547T>C (p.Ala849=)
c.7590T>C (p.Ala2530=)
n.1519T>C
c.7719T>C (p.Ala2573=)
2g.73489675T>GCA426765313ALMS1c.7335T>G (p.Ala2445=)
c.727T>G
c.4787T>G
c.1782T>G (p.Ala594=)
c.7716T>G (p.Ala2572=)
c.896-30100T>G
c.2547T>G (p.Ala849=)
c.7590T>G (p.Ala2530=)
n.1519T>G
c.7719T>G (p.Ala2573=)
2g.73489676G>ACA347263913ALMS1c.7336G>A (p.Val2446Ile)
c.728G>A
c.4788G>A
c.1783G>A (p.Val595Ile)
c.7717G>A (p.Val2573Ile)
c.896-30099G>A
c.2548G>A (p.Val850Ile)
c.7591G>A (p.Val2531Ile)
n.1520G>A
c.7720G>A (p.Val2574Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.73489676G>CCA347263914ALMS1c.7336G>C (p.Val2446Leu)
c.728G>C
c.4788G>C
c.1783G>C (p.Val595Leu)
c.7717G>C (p.Val2573Leu)
c.896-30099G>C
c.2548G>C (p.Val850Leu)
c.7591G>C (p.Val2531Leu)
n.1520G>C
c.7720G>C (p.Val2574Leu)
2g.73489676G=CA1260981096ALMS1c.7336G= (p.Val2446=)
c.728G=
c.4788G=
c.1783G= (p.Val595=)
c.7717G= (p.Val2573=)
c.896-30099G=
c.2548G= (p.Val850=)
c.7591G= (p.Val2531=)
n.1520G=
c.7720G= (p.Val2574=)
2g.73489676G>TCA347263915ALMS1c.7336G>T (p.Val2446Leu)
c.728G>T
c.4788G>T
c.1783G>T (p.Val595Leu)
c.7717G>T (p.Val2573Leu)
c.896-30099G>T
c.2548G>T (p.Val850Leu)
c.7591G>T (p.Val2531Leu)
n.1520G>T
c.7720G>T (p.Val2574Leu)
 gnomAD v4
2g.73489677T>ACA347263918ALMS1c.7337T>A (p.Val2446Glu)
c.729T>A
c.4789T>A
c.1784T>A (p.Val595Glu)
c.7718T>A (p.Val2573Glu)
c.896-30098T>A
c.2549T>A (p.Val850Glu)
c.7592T>A (p.Val2531Glu)
n.1521T>A
c.7721T>A (p.Val2574Glu)
2g.73489677T>CCA347263916ALMS1c.7337T>C (p.Val2446Ala)
c.729T>C
c.4789T>C
c.1784T>C (p.Val595Ala)
c.7718T>C (p.Val2573Ala)
c.896-30098T>C
c.2549T>C (p.Val850Ala)
c.7592T>C (p.Val2531Ala)
n.1521T>C
c.7721T>C (p.Val2574Ala)
2g.73489677T>GCA347263917ALMS1c.7337T>G (p.Val2446Gly)
c.729T>G
c.4789T>G
c.1784T>G (p.Val595Gly)
c.7718T>G (p.Val2573Gly)
c.896-30098T>G
c.2549T>G (p.Val850Gly)
c.7592T>G (p.Val2531Gly)
n.1521T>G
c.7721T>G (p.Val2574Gly)
2g.73489678A=CA1260981097ALMS1c.7338A= (p.Val2446=)
c.730A=
c.4790A=
c.1785A= (p.Val595=)
c.7719A= (p.Val2573=)
c.896-30097A=
c.2550A= (p.Val850=)
c.7593A= (p.Val2531=)
n.1522A=
c.7722A= (p.Val2574=)
2g.73489678A>CCA426765323ALMS1c.7338A>C (p.Val2446=)
c.730A>C
c.4790A>C
c.1785A>C (p.Val595=)
c.7719A>C (p.Val2573=)
c.896-30097A>C
c.2550A>C (p.Val850=)
c.7593A>C (p.Val2531=)
n.1522A>C
c.7722A>C (p.Val2574=)
2g.73489678A>GCA1714329ALMS1c.7338A>G (p.Val2446=)
c.730A>G
c.4790A>G
c.1785A>G (p.Val595=)
c.7719A>G (p.Val2573=)
c.896-30097A>G
c.2550A>G (p.Val850=)
c.7593A>G (p.Val2531=)
n.1522A>G
c.7722A>G (p.Val2574=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489678A>TCA426765325ALMS1c.7338A>T (p.Val2446=)
c.730A>T
c.4790A>T
c.1785A>T (p.Val595=)
c.7719A>T (p.Val2573=)
c.896-30097A>T
c.2550A>T (p.Val850=)
c.7593A>T (p.Val2531=)
n.1522A>T
c.7722A>T (p.Val2574=)
2g.73489678_73489681delinsATGTCA1260981098ALMS1c.7338_7341delinsATGT (p.Val2446=)
c.730_733delinsATGT
c.4790_4793delinsATGT
c.1785_1788delinsATGT (p.Val595=)
c.7719_7722delinsATGT (p.Val2573=)
c.896-30097_896-30094delinsATGT
c.2550_2553delinsATGT (p.Val850=)
c.7593_7596delinsATGT (p.Val2531=)
n.1522_1525delinsATGT
c.7722_7725delinsATGT (p.Val2574=)
2g.73489679T>ACA347263919ALMS1c.7339T>A (p.Cys2447Ser)
c.731T>A
c.4791T>A
c.1786T>A (p.Cys596Ser)
c.7720T>A (p.Cys2574Ser)
c.896-30096T>A
c.2551T>A (p.Cys851Ser)
c.7594T>A (p.Cys2532Ser)
n.1523T>A
c.7723T>A (p.Cys2575Ser)
2g.73489679T>CCA347263920ALMS1c.7339T>C (p.Cys2447Arg)
c.731T>C
c.4791T>C
c.1786T>C (p.Cys596Arg)
c.7720T>C (p.Cys2574Arg)
c.896-30096T>C
c.2551T>C (p.Cys851Arg)
c.7594T>C (p.Cys2532Arg)
n.1523T>C
c.7723T>C (p.Cys2575Arg)
2g.73489679T>GCA347263921ALMS1c.7339T>G (p.Cys2447Gly)
c.731T>G
c.4791T>G
c.1786T>G (p.Cys596Gly)
c.7720T>G (p.Cys2574Gly)
c.896-30096T>G
c.2551T>G (p.Cys851Gly)
c.7594T>G (p.Cys2532Gly)
n.1523T>G
c.7723T>G (p.Cys2575Gly)
2g.73489679_73489681delCA1260981099ALMS1c.7339_7341del (p.Cys2447del)
c.731_733del
c.4791_4793del
c.1786_1788del (p.Cys596del)
c.7720_7722del (p.Cys2574del)
c.896-30096_896-30094del
c.2551_2553del (p.Cys851del)
c.7594_7596del (p.Cys2532del)
n.1523_1525del
c.7723_7725del (p.Cys2575del)
 dbSNP
2g.73489680G>ACA1714330ALMS1c.7340G>A (p.Cys2447Tyr)
c.732G>A
c.4792G>A
c.1787G>A (p.Cys596Tyr)
c.7721G>A (p.Cys2574Tyr)
c.896-30095G>A
c.2552G>A (p.Cys851Tyr)
c.7595G>A (p.Cys2532Tyr)
n.1524G>A
c.7724G>A (p.Cys2575Tyr)
 dbSNP ExAC gnomAD v4
2g.73489680G>CCA347263922ALMS1c.7340G>C (p.Cys2447Ser)
c.732G>C
c.4792G>C
c.1787G>C (p.Cys596Ser)
c.7721G>C (p.Cys2574Ser)
c.896-30095G>C
c.2552G>C (p.Cys851Ser)
c.7595G>C (p.Cys2532Ser)
n.1524G>C
c.7724G>C (p.Cys2575Ser)
2g.73489680G=CA1260981100ALMS1c.7340G= (p.Cys2447=)
c.732G=
c.4792G=
c.1787G= (p.Cys596=)
c.7721G= (p.Cys2574=)
c.896-30095G=
c.2552G= (p.Cys851=)
c.7595G= (p.Cys2532=)
n.1524G=
c.7724G= (p.Cys2575=)
2g.73489680G>TCA347263923ALMS1c.7340G>T (p.Cys2447Phe)
c.732G>T
c.4792G>T
c.1787G>T (p.Cys596Phe)
c.7721G>T (p.Cys2574Phe)
c.896-30095G>T
c.2552G>T (p.Cys851Phe)
c.7595G>T (p.Cys2532Phe)
n.1524G>T
c.7724G>T (p.Cys2575Phe)
2g.73489681T>ACA347263924ALMS1c.7341T>A (p.Cys2447Ter)
c.733T>A
c.4793T>A
c.1788T>A (p.Cys596Ter)
c.7722T>A (p.Cys2574Ter)
c.896-30094T>A
c.2553T>A (p.Cys851Ter)
c.7596T>A (p.Cys2532Ter)
n.1525T>A
c.7725T>A (p.Cys2575Ter)
2g.73489681T>CCA426765344ALMS1c.7341T>C (p.Cys2447=)
c.733T>C
c.4793T>C
c.1788T>C (p.Cys596=)
c.7722T>C (p.Cys2574=)
c.896-30094T>C
c.2553T>C (p.Cys851=)
c.7596T>C (p.Cys2532=)
n.1525T>C
c.7725T>C (p.Cys2575=)
2g.73489681T>GCA347263925ALMS1c.7341T>G (p.Cys2447Trp)
c.733T>G
c.4793T>G
c.1788T>G (p.Cys596Trp)
c.7722T>G (p.Cys2574Trp)
c.896-30094T>G
c.2553T>G (p.Cys851Trp)
c.7596T>G (p.Cys2532Trp)
n.1525T>G
c.7725T>G (p.Cys2575Trp)
2g.73489682A>CCA347263926ALMS1c.7342A>C (p.Ser2448Arg)
c.734A>C
c.4794A>C
c.1789A>C (p.Ser597Arg)
c.7723A>C (p.Ser2575Arg)
c.896-30093A>C
c.2554A>C (p.Ser852Arg)
c.7597A>C (p.Ser2533Arg)
n.1526A>C
c.7726A>C (p.Ser2576Arg)
2g.73489682A>GCA347263927ALMS1c.7342A>G (p.Ser2448Gly)
c.734A>G
c.4794A>G
c.1789A>G (p.Ser597Gly)
c.7723A>G (p.Ser2575Gly)
c.896-30093A>G
c.2554A>G (p.Ser852Gly)
c.7597A>G (p.Ser2533Gly)
n.1526A>G
c.7726A>G (p.Ser2576Gly)
2g.73489682A>TCA347263928ALMS1c.7342A>T (p.Ser2448Cys)
c.734A>T
c.4794A>T
c.1789A>T (p.Ser597Cys)
c.7723A>T (p.Ser2575Cys)
c.896-30093A>T
c.2554A>T (p.Ser852Cys)
c.7597A>T (p.Ser2533Cys)
n.1526A>T
c.7726A>T (p.Ser2576Cys)
2g.73489682_73489683delinsAGCA1260981101ALMS1c.7342_7343delinsAG (p.Ser2448=)
c.734_735delinsAG
c.4794_4795delinsAG
c.1789_1790delinsAG (p.Ser597=)
c.7723_7724delinsAG (p.Ser2575=)
c.896-30093_896-30092delinsAG
c.2554_2555delinsAG (p.Ser852=)
c.7597_7598delinsAG (p.Ser2533=)
n.1526_1527delinsAG
c.7726_7727delinsAG (p.Ser2576=)
2g.73489683delCA1260981103ALMS1c.7343del (p.Ser2448IlefsTer16)
c.735del
c.4795del
c.1790del (p.Ser597IlefsTer16)
c.7724del (p.Ser2575IlefsTer16)
c.896-30092del
c.2555del (p.Ser852IlefsTer16)
c.7598del (p.Ser2533IlefsTer16)
n.1527del
c.7727del (p.Ser2576IlefsTer16)
 dbSNP
2g.73489683G>ACA1714331ALMS1c.7343G>A (p.Ser2448Asn)
c.735G>A
c.4795G>A
c.1790G>A (p.Ser597Asn)
c.7724G>A (p.Ser2575Asn)
c.896-30092G>A
c.2555G>A (p.Ser852Asn)
c.7598G>A (p.Ser2533Asn)
n.1527G>A
c.7727G>A (p.Ser2576Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489683G>CCA347263929ALMS1c.7343G>C (p.Ser2448Thr)
c.735G>C
c.4795G>C
c.1790G>C (p.Ser597Thr)
c.7724G>C (p.Ser2575Thr)
c.896-30092G>C
c.2555G>C (p.Ser852Thr)
c.7598G>C (p.Ser2533Thr)
n.1527G>C
c.7727G>C (p.Ser2576Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73489683G=CA1260981102ALMS1c.7343G= (p.Ser2448=)
c.735G=
c.4795G=
c.1790G= (p.Ser597=)
c.7724G= (p.Ser2575=)
c.896-30092G=
c.2555G= (p.Ser852=)
c.7598G= (p.Ser2533=)
n.1527G=
c.7727G= (p.Ser2576=)
2g.73489683G>TCA347263930ALMS1c.7343G>T (p.Ser2448Ile)
c.735G>T
c.4795G>T
c.1790G>T (p.Ser597Ile)
c.7724G>T (p.Ser2575Ile)
c.896-30092G>T
c.2555G>T (p.Ser852Ile)
c.7598G>T (p.Ser2533Ile)
n.1527G>T
c.7727G>T (p.Ser2576Ile)
2g.73489684T>ACA347263931ALMS1c.7344T>A (p.Ser2448Arg)
c.736T>A
c.4796T>A
c.1791T>A (p.Ser597Arg)
c.7725T>A (p.Ser2575Arg)
c.896-30091T>A
c.2556T>A (p.Ser852Arg)
c.7599T>A (p.Ser2533Arg)
n.1528T>A
c.7728T>A (p.Ser2576Arg)
 gnomAD v4
2g.73489684T>CCA426765350ALMS1c.7344T>C (p.Ser2448=)
c.736T>C
c.4796T>C
c.1791T>C (p.Ser597=)
c.7725T>C (p.Ser2575=)
c.896-30091T>C
c.2556T>C (p.Ser852=)
c.7599T>C (p.Ser2533=)
n.1528T>C
c.7728T>C (p.Ser2576=)
2g.73489684T>GCA347263932ALMS1c.7344T>G (p.Ser2448Arg)
c.736T>G
c.4796T>G
c.1791T>G (p.Ser597Arg)
c.7725T>G (p.Ser2575Arg)
c.896-30091T>G
c.2556T>G (p.Ser852Arg)
c.7599T>G (p.Ser2533Arg)
n.1528T>G
c.7728T>G (p.Ser2576Arg)
2g.73489685C>ACA347263933ALMS1c.7345C>A (p.His2449Asn)
c.737C>A
c.4797C>A
c.1792C>A (p.His598Asn)
c.7726C>A (p.His2576Asn)
c.896-30090C>A
c.2557C>A (p.His853Asn)
c.7600C>A (p.His2534Asn)
n.1529C>A
c.7729C>A (p.His2577Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.73489685C=CA1260981104ALMS1c.7345C= (p.His2449=)
c.737C=
c.4797C=
c.1792C= (p.His598=)
c.7726C= (p.His2576=)
c.896-30090C=
c.2557C= (p.His853=)
c.7600C= (p.His2534=)
n.1529C=
c.7729C= (p.His2577=)
2g.73489685C>GCA347263934ALMS1c.7345C>G (p.His2449Asp)
c.737C>G
c.4797C>G
c.1792C>G (p.His598Asp)
c.7726C>G (p.His2576Asp)
c.896-30090C>G
c.2557C>G (p.His853Asp)
c.7600C>G (p.His2534Asp)
n.1529C>G
c.7729C>G (p.His2577Asp)
 gnomAD v4
2g.73489685C>TCA347263935ALMS1c.7345C>T (p.His2449Tyr)
c.737C>T
c.4797C>T
c.1792C>T (p.His598Tyr)
c.7726C>T (p.His2576Tyr)
c.896-30090C>T
c.2557C>T (p.His853Tyr)
c.7600C>T (p.His2534Tyr)
n.1529C>T
c.7729C>T (p.His2577Tyr)
2g.73489686A>CCA347263938ALMS1c.7346A>C (p.His2449Pro)
c.738A>C
c.4798A>C
c.1793A>C (p.His598Pro)
c.7727A>C (p.His2576Pro)
c.896-30089A>C
c.2558A>C (p.His853Pro)
c.7601A>C (p.His2534Pro)
n.1530A>C
c.7730A>C (p.His2577Pro)
2g.73489686A>GCA347263937ALMS1c.7346A>G (p.His2449Arg)
c.738A>G
c.4798A>G
c.1793A>G (p.His598Arg)
c.7727A>G (p.His2576Arg)
c.896-30089A>G
c.2558A>G (p.His853Arg)
c.7601A>G (p.His2534Arg)
n.1530A>G
c.7730A>G (p.His2577Arg)
2g.73489686A>TCA347263936ALMS1c.7346A>T (p.His2449Leu)
c.738A>T
c.4798A>T
c.1793A>T (p.His598Leu)
c.7727A>T (p.His2576Leu)
c.896-30089A>T
c.2558A>T (p.His853Leu)
c.7601A>T (p.His2534Leu)
n.1530A>T
c.7730A>T (p.His2577Leu)
2g.73489687C>ACA347263939ALMS1c.7347C>A (p.His2449Gln)
c.739C>A
c.4799C>A
c.1794C>A (p.His598Gln)
c.7728C>A (p.His2576Gln)
c.896-30088C>A
c.2559C>A (p.His853Gln)
c.7602C>A (p.His2534Gln)
n.1531C>A
c.7731C>A (p.His2577Gln)
2g.73489687C=CA1260981105ALMS1c.7347C= (p.His2449=)
c.739C=
c.4799C=
c.1794C= (p.His598=)
c.7728C= (p.His2576=)
c.896-30088C=
c.2559C= (p.His853=)
c.7602C= (p.His2534=)
n.1531C=
c.7731C= (p.His2577=)
2g.73489687C>GCA347263940ALMS1c.7347C>G (p.His2449Gln)
c.739C>G
c.4799C>G
c.1794C>G (p.His598Gln)
c.7728C>G (p.His2576Gln)
c.896-30088C>G
c.2559C>G (p.His853Gln)
c.7602C>G (p.His2534Gln)
n.1531C>G
c.7731C>G (p.His2577Gln)
2g.73489687C>TCA1714332ALMS1c.7347C>T (p.His2449=)
c.739C>T
c.4799C>T
c.1794C>T (p.His598=)
c.7728C>T (p.His2576=)
c.896-30088C>T
c.2559C>T (p.His853=)
c.7602C>T (p.His2534=)
n.1531C>T
c.7731C>T (p.His2577=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489688A=CA1260981106ALMS1c.7348A= (p.Ile2450=)
c.740A=
c.4800A=
c.1795A= (p.Ile599=)
c.7729A= (p.Ile2577=)
c.896-30087A=
c.2560A= (p.Ile854=)
c.7603A= (p.Ile2535=)
n.1532A=
c.7732A= (p.Ile2578=)
2g.73489688A>CCA347263941ALMS1c.7348A>C (p.Ile2450Leu)
c.740A>C
c.4800A>C
c.1795A>C (p.Ile599Leu)
c.7729A>C (p.Ile2577Leu)
c.896-30087A>C
c.2560A>C (p.Ile854Leu)
c.7603A>C (p.Ile2535Leu)
n.1532A>C
c.7732A>C (p.Ile2578Leu)
2g.73489688A>GCA347263942ALMS1c.7348A>G (p.Ile2450Val)
c.740A>G
c.4800A>G
c.1795A>G (p.Ile599Val)
c.7729A>G (p.Ile2577Val)
c.896-30087A>G
c.2560A>G (p.Ile854Val)
c.7603A>G (p.Ile2535Val)
n.1532A>G
c.7732A>G (p.Ile2578Val)
 ClinVar dbSNP
2g.73489688A>TCA347263943ALMS1c.7348A>T (p.Ile2450Phe)
c.740A>T
c.4800A>T
c.1795A>T (p.Ile599Phe)
c.7729A>T (p.Ile2577Phe)
c.896-30087A>T
c.2560A>T (p.Ile854Phe)
c.7603A>T (p.Ile2535Phe)
n.1532A>T
c.7732A>T (p.Ile2578Phe)
 ClinVar
2g.73489689T>ACA347263944ALMS1c.7349T>A (p.Ile2450Asn)
c.741T>A
c.4801T>A
c.1796T>A (p.Ile599Asn)
c.7730T>A (p.Ile2577Asn)
c.896-30086T>A
c.2561T>A (p.Ile854Asn)
c.7604T>A (p.Ile2535Asn)
n.1533T>A
c.7733T>A (p.Ile2578Asn)
2g.73489689T>CCA347263946ALMS1c.7349T>C (p.Ile2450Thr)
c.741T>C
c.4801T>C
c.1796T>C (p.Ile599Thr)
c.7730T>C (p.Ile2577Thr)
c.896-30086T>C
c.2561T>C (p.Ile854Thr)
c.7604T>C (p.Ile2535Thr)
n.1533T>C
c.7733T>C (p.Ile2578Thr)
2g.73489689T>GCA347263945ALMS1c.7349T>G (p.Ile2450Ser)
c.741T>G
c.4801T>G
c.1796T>G (p.Ile599Ser)
c.7730T>G (p.Ile2577Ser)
c.896-30086T>G
c.2561T>G (p.Ile854Ser)
c.7604T>G (p.Ile2535Ser)
n.1533T>G
c.7733T>G (p.Ile2578Ser)
 gnomAD v4
2g.73489690T>ACA426765373ALMS1c.7350T>A (p.Ile2450=)
c.742T>A
c.4802T>A
c.1797T>A (p.Ile599=)
c.7731T>A (p.Ile2577=)
c.896-30085T>A
c.2562T>A (p.Ile854=)
c.7605T>A (p.Ile2535=)
n.1534T>A
c.7734T>A (p.Ile2578=)
2g.73489690T>CCA426765374ALMS1c.7350T>C (p.Ile2450=)
c.742T>C
c.4802T>C
c.1797T>C (p.Ile599=)
c.7731T>C (p.Ile2577=)
c.896-30085T>C
c.2562T>C (p.Ile854=)
c.7605T>C (p.Ile2535=)
n.1534T>C
c.7734T>C (p.Ile2578=)
2g.73489690T>GCA347263947ALMS1c.7350T>G (p.Ile2450Met)
c.742T>G
c.4802T>G
c.1797T>G (p.Ile599Met)
c.7731T>G (p.Ile2577Met)
c.896-30085T>G
c.2562T>G (p.Ile854Met)
c.7605T>G (p.Ile2535Met)
n.1534T>G
c.7734T>G (p.Ile2578Met)
2g.73489691A=CA1260981107ALMS1c.7351A= (p.Ile2451=)
c.743A=
c.4803A=
c.1798A= (p.Ile600=)
c.7732A= (p.Ile2578=)
c.896-30084A=
c.2563A= (p.Ile855=)
c.7606A= (p.Ile2536=)
n.1535A=
c.7735A= (p.Ile2579=)
2g.73489691A>CCA347263948ALMS1c.7351A>C (p.Ile2451Leu)
c.743A>C
c.4803A>C
c.1798A>C (p.Ile600Leu)
c.7732A>C (p.Ile2578Leu)
c.896-30084A>C
c.2563A>C (p.Ile855Leu)
c.7606A>C (p.Ile2536Leu)
n.1535A>C
c.7735A>C (p.Ile2579Leu)
2g.73489691A>GCA347263949ALMS1c.7351A>G (p.Ile2451Val)
c.743A>G
c.4803A>G
c.1798A>G (p.Ile600Val)
c.7732A>G (p.Ile2578Val)
c.896-30084A>G
c.2563A>G (p.Ile855Val)
c.7606A>G (p.Ile2536Val)
n.1535A>G
c.7735A>G (p.Ile2579Val)
 ClinVar dbSNP
2g.73489691A>TCA347263950ALMS1c.7351A>T (p.Ile2451Phe)
c.743A>T
c.4803A>T
c.1798A>T (p.Ile600Phe)
c.7732A>T (p.Ile2578Phe)
c.896-30084A>T
c.2563A>T (p.Ile855Phe)
c.7606A>T (p.Ile2536Phe)
n.1535A>T
c.7735A>T (p.Ile2579Phe)
2g.73489692T>ACA347263951ALMS1c.7352T>A (p.Ile2451Asn)
c.744T>A
c.4804T>A
c.1799T>A (p.Ile600Asn)
c.7733T>A (p.Ile2578Asn)
c.896-30083T>A
c.2564T>A (p.Ile855Asn)
c.7607T>A (p.Ile2536Asn)
n.1536T>A
c.7736T>A (p.Ile2579Asn)
2g.73489692T>CCA347263952ALMS1c.7352T>C (p.Ile2451Thr)
c.744T>C
c.4804T>C
c.1799T>C (p.Ile600Thr)
c.7733T>C (p.Ile2578Thr)
c.896-30083T>C
c.2564T>C (p.Ile855Thr)
c.7607T>C (p.Ile2536Thr)
n.1536T>C
c.7736T>C (p.Ile2579Thr)
2g.73489692T>GCA347263953ALMS1c.7352T>G (p.Ile2451Ser)
c.744T>G
c.4804T>G
c.1799T>G (p.Ile600Ser)
c.7733T>G (p.Ile2578Ser)
c.896-30083T>G
c.2564T>G (p.Ile855Ser)
c.7607T>G (p.Ile2536Ser)
n.1536T>G
c.7736T>G (p.Ile2579Ser)
2g.73489693T>ACA426765378ALMS1c.7353T>A (p.Ile2451=)
c.745T>A
c.4805T>A
c.1800T>A (p.Ile600=)
c.7734T>A (p.Ile2578=)
c.896-30082T>A
c.2565T>A (p.Ile855=)
c.7608T>A (p.Ile2536=)
n.1537T>A
c.7737T>A (p.Ile2579=)
2g.73489693T>CCA426765379ALMS1c.7353T>C (p.Ile2451=)
c.745T>C
c.4805T>C
c.1800T>C (p.Ile600=)
c.7734T>C (p.Ile2578=)
c.896-30082T>C
c.2565T>C (p.Ile855=)
c.7608T>C (p.Ile2536=)
n.1537T>C
c.7737T>C (p.Ile2579=)
 dbSNP gnomAD v2 gnomAD v4
2g.73489693T>GCA347263954ALMS1c.7353T>G (p.Ile2451Met)
c.745T>G
c.4805T>G
c.1800T>G (p.Ile600Met)
c.7734T>G (p.Ile2578Met)
c.896-30082T>G
c.2565T>G (p.Ile855Met)
c.7608T>G (p.Ile2536Met)
n.1537T>G
c.7737T>G (p.Ile2579Met)
2g.73489693T=CA1260981108ALMS1c.7353T= (p.Ile2451=)
c.745T=
c.4805T=
c.1800T= (p.Ile600=)
c.7734T= (p.Ile2578=)
c.896-30082T=
c.2565T= (p.Ile855=)
c.7608T= (p.Ile2536=)
n.1537T=
c.7737T= (p.Ile2579=)
2g.73489694A=CA1260981109ALMS1c.7354A= (p.Ile2452=)
c.746A=
c.4806A=
c.1801A= (p.Ile601=)
c.7735A= (p.Ile2579=)
c.896-30081A=
c.2566A= (p.Ile856=)
c.7609A= (p.Ile2537=)
n.1538A=
c.7738A= (p.Ile2580=)
2g.73489694A>CCA347263955ALMS1c.7354A>C (p.Ile2452Leu)
c.746A>C
c.4806A>C
c.1801A>C (p.Ile601Leu)
c.7735A>C (p.Ile2579Leu)
c.896-30081A>C
c.2566A>C (p.Ile856Leu)
c.7609A>C (p.Ile2537Leu)
n.1538A>C
c.7738A>C (p.Ile2580Leu)
2g.73489694A>GCA347263956ALMS1c.7354A>G (p.Ile2452Val)
c.746A>G
c.4806A>G
c.1801A>G (p.Ile601Val)
c.7735A>G (p.Ile2579Val)
c.896-30081A>G
c.2566A>G (p.Ile856Val)
c.7609A>G (p.Ile2537Val)
n.1538A>G
c.7738A>G (p.Ile2580Val)
 gnomAD v4
2g.73489694A>TCA1714333ALMS1c.7354A>T (p.Ile2452Phe)
c.746A>T
c.4806A>T
c.1801A>T (p.Ile601Phe)
c.7735A>T (p.Ile2579Phe)
c.896-30081A>T
c.2566A>T (p.Ile856Phe)
c.7609A>T (p.Ile2537Phe)
n.1538A>T
c.7738A>T (p.Ile2580Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489695T>ACA347263957ALMS1c.7355T>A (p.Ile2452Asn)
c.747T>A
c.4807T>A
c.1802T>A (p.Ile601Asn)
c.7736T>A (p.Ile2579Asn)
c.896-30080T>A
c.2567T>A (p.Ile856Asn)
c.7610T>A (p.Ile2537Asn)
n.1539T>A
c.7739T>A (p.Ile2580Asn)
2g.73489695T>CCA347263959ALMS1c.7355T>C (p.Ile2452Thr)
c.747T>C
c.4807T>C
c.1802T>C (p.Ile601Thr)
c.7736T>C (p.Ile2579Thr)
c.896-30080T>C
c.2567T>C (p.Ile856Thr)
c.7610T>C (p.Ile2537Thr)
n.1539T>C
c.7739T>C (p.Ile2580Thr)
 ClinVar
2g.73489695T>GCA347263958ALMS1c.7355T>G (p.Ile2452Ser)
c.747T>G
c.4807T>G
c.1802T>G (p.Ile601Ser)
c.7736T>G (p.Ile2579Ser)
c.896-30080T>G
c.2567T>G (p.Ile856Ser)
c.7610T>G (p.Ile2537Ser)
n.1539T>G
c.7739T>G (p.Ile2580Ser)
2g.73489696T>ACA426765389ALMS1c.7356T>A (p.Ile2452=)
c.748T>A
c.4808T>A
c.1803T>A (p.Ile601=)
c.7737T>A (p.Ile2579=)
c.896-30079T>A
c.2568T>A (p.Ile856=)
c.7611T>A (p.Ile2537=)
n.1540T>A
c.7740T>A (p.Ile2580=)
2g.73489696T>CCA426765391ALMS1c.7356T>C (p.Ile2452=)
c.748T>C
c.4808T>C
c.1803T>C (p.Ile601=)
c.7737T>C (p.Ile2579=)
c.896-30079T>C
c.2568T>C (p.Ile856=)
c.7611T>C (p.Ile2537=)
n.1540T>C
c.7740T>C (p.Ile2580=)
 dbSNP gnomAD v2 gnomAD v4
2g.73489696T>GCA347263960ALMS1c.7356T>G (p.Ile2452Met)
c.748T>G
c.4808T>G
c.1803T>G (p.Ile601Met)
c.7737T>G (p.Ile2579Met)
c.896-30079T>G
c.2568T>G (p.Ile856Met)
c.7611T>G (p.Ile2537Met)
n.1540T>G
c.7740T>G (p.Ile2580Met)
2g.73489696T=CA1260981110ALMS1c.7356T= (p.Ile2452=)
c.748T=
c.4808T=
c.1803T= (p.Ile601=)
c.7737T= (p.Ile2579=)
c.896-30079T=
c.2568T= (p.Ile856=)
c.7611T= (p.Ile2537=)
n.1540T=
c.7740T= (p.Ile2580=)
2g.73489697G>ACA347263961ALMS1c.7357G>A (p.Glu2453Lys)
c.749G>A
c.4809G>A
c.1804G>A (p.Glu602Lys)
c.7738G>A (p.Glu2580Lys)
c.896-30078G>A
c.2569G>A (p.Glu857Lys)
c.7612G>A (p.Glu2538Lys)
n.1541G>A
c.7741G>A (p.Glu2581Lys)
 ClinVar
2g.73489697G>CCA347263962ALMS1c.7357G>C (p.Glu2453Gln)
c.749G>C
c.4809G>C
c.1804G>C (p.Glu602Gln)
c.7738G>C (p.Glu2580Gln)
c.896-30078G>C
c.2569G>C (p.Glu857Gln)
c.7612G>C (p.Glu2538Gln)
n.1541G>C
c.7741G>C (p.Glu2581Gln)
2g.73489697G>TCA347263963ALMS1c.7357G>T (p.Glu2453Ter)
c.749G>T
c.4809G>T
c.1804G>T (p.Glu602Ter)
c.7738G>T (p.Glu2580Ter)
c.896-30078G>T
c.2569G>T (p.Glu857Ter)
c.7612G>T (p.Glu2538Ter)
n.1541G>T
c.7741G>T (p.Glu2581Ter)
 gnomAD v4

Number of alleles fetched