Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73490229A=CA1260981716ALMS1c.7889A= (p.Glu2630=)
c.1281A=
c.5341A=
c.2336A= (p.Glu779=)
c.8270A= (p.Glu2757=)
c.896-29546A=
c.3030+71A= (n.3030+71A=)
c.8144A= (p.Glu2715=)
n.2073A=
c.8273A= (p.Glu2758=)
2g.73490229A>CCA347268064ALMS1c.7889A>C (p.Glu2630Ala)
c.1281A>C
c.5341A>C
c.2336A>C (p.Glu779Ala)
c.8270A>C (p.Glu2757Ala)
c.896-29546A>C
c.3030+71A>C (n.3030+71A>C)
c.8144A>C (p.Glu2715Ala)
n.2073A>C
c.8273A>C (p.Glu2758Ala)
 dbSNP
2g.73490229A>GCA347268065ALMS1c.7889A>G (p.Glu2630Gly)
c.1281A>G
c.5341A>G
c.2336A>G (p.Glu779Gly)
c.8270A>G (p.Glu2757Gly)
c.896-29546A>G
c.3030+71A>G (n.3030+71A>G)
c.8144A>G (p.Glu2715Gly)
n.2073A>G
c.8273A>G (p.Glu2758Gly)
2g.73490229A>TCA347268067ALMS1c.7889A>T (p.Glu2630Val)
c.1281A>T
c.5341A>T
c.2336A>T (p.Glu779Val)
c.8270A>T (p.Glu2757Val)
c.896-29546A>T
c.3030+71A>T (n.3030+71A>T)
c.8144A>T (p.Glu2715Val)
n.2073A>T
c.8273A>T (p.Glu2758Val)
2g.73490230A>CCA347268069ALMS1c.7890A>C (p.Glu2630Asp)
c.1282A>C
c.5342A>C
c.2337A>C (p.Glu779Asp)
c.8271A>C (p.Glu2757Asp)
c.896-29545A>C
c.3030+72A>C (n.3030+72A>C)
c.8145A>C (p.Glu2715Asp)
n.2074A>C
c.8274A>C (p.Glu2758Asp)
2g.73490230A>GCA427001350ALMS1c.7890A>G (p.Glu2630=)
c.1282A>G
c.5342A>G
c.2337A>G (p.Glu779=)
c.8271A>G (p.Glu2757=)
c.896-29545A>G
c.3030+72A>G (n.3030+72A>G)
c.8145A>G (p.Glu2715=)
n.2074A>G
c.8274A>G (p.Glu2758=)
 gnomAD v4
2g.73490230A>TCA347268070ALMS1c.7890A>T (p.Glu2630Asp)
c.1282A>T
c.5342A>T
c.2337A>T (p.Glu779Asp)
c.8271A>T (p.Glu2757Asp)
c.896-29545A>T
c.3030+72A>T (n.3030+72A>T)
c.8145A>T (p.Glu2715Asp)
n.2074A>T
c.8274A>T (p.Glu2758Asp)
 gnomAD v4
2g.73490231C>ACA347268073ALMS1c.7891C>A (p.Gln2631Lys)
c.1283C>A
c.5343C>A
c.2338C>A (p.Gln780Lys)
c.8272C>A (p.Gln2758Lys)
c.896-29544C>A
c.3030+73C>A (n.3030+73C>A)
c.8146C>A (p.Gln2716Lys)
n.2075C>A
c.8275C>A (p.Gln2759Lys)
 ClinVar dbSNP
2g.73490231C=CA1260981718ALMS1c.7891C= (p.Gln2631=)
c.1283C=
c.5343C=
c.2338C= (p.Gln780=)
c.8272C= (p.Gln2758=)
c.896-29544C=
c.3030+73C= (n.3030+73C=)
c.8146C= (p.Gln2716=)
n.2075C=
c.8275C= (p.Gln2759=)
2g.73490231C>GCA347268074ALMS1c.7891C>G (p.Gln2631Glu)
c.1283C>G
c.5343C>G
c.2338C>G (p.Gln780Glu)
c.8272C>G (p.Gln2758Glu)
c.896-29544C>G
c.3030+73C>G (n.3030+73C>G)
c.8146C>G (p.Gln2716Glu)
n.2075C>G
c.8275C>G (p.Gln2759Glu)
2g.73490231C>TCA1714434ALMS1c.7891C>T (p.Gln2631Ter)
c.1283C>T
c.5343C>T
c.2338C>T (p.Gln780Ter)
c.8272C>T (p.Gln2758Ter)
c.896-29544C>T
c.3030+73C>T (n.3030+73C>T)
c.8146C>T (p.Gln2716Ter)
n.2075C>T
c.8275C>T (p.Gln2759Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490232A=CA1260981725ALMS1c.7892A= (p.Gln2631=)
c.1284A=
c.5344A=
c.2339A= (p.Gln780=)
c.8273A= (p.Gln2758=)
c.896-29543A=
c.3030+74A= (n.3030+74A=)
c.8147A= (p.Gln2716=)
n.2076A=
c.8276A= (p.Gln2759=)
2g.73490232A>CCA347268079ALMS1c.7892A>C (p.Gln2631Pro)
c.1284A>C
c.5344A>C
c.2339A>C (p.Gln780Pro)
c.8273A>C (p.Gln2758Pro)
c.896-29543A>C
c.3030+74A>C (n.3030+74A>C)
c.8147A>C (p.Gln2716Pro)
n.2076A>C
c.8276A>C (p.Gln2759Pro)
2g.73490232A>GCA347268077ALMS1c.7892A>G (p.Gln2631Arg)
c.1284A>G
c.5344A>G
c.2339A>G (p.Gln780Arg)
c.8273A>G (p.Gln2758Arg)
c.896-29543A>G
c.3030+74A>G (n.3030+74A>G)
c.8147A>G (p.Gln2716Arg)
n.2076A>G
c.8276A>G (p.Gln2759Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73490232A>TCA347268080ALMS1c.7892A>T (p.Gln2631Leu)
c.1284A>T
c.5344A>T
c.2339A>T (p.Gln780Leu)
c.8273A>T (p.Gln2758Leu)
c.896-29543A>T
c.3030+74A>T (n.3030+74A>T)
c.8147A>T (p.Gln2716Leu)
n.2076A>T
c.8276A>T (p.Gln2759Leu)
2g.73490233A=CA1260981733ALMS1c.7893A= (p.Gln2631=)
c.1285A=
c.5345A=
c.2340A= (p.Gln780=)
c.8274A= (p.Gln2758=)
c.896-29542A=
c.3030+75A= (n.3030+75A=)
c.8148A= (p.Gln2716=)
n.2077A=
c.8277A= (p.Gln2759=)
2g.73490233A>CCA347268081ALMS1c.7893A>C (p.Gln2631His)
c.1285A>C
c.5345A>C
c.2340A>C (p.Gln780His)
c.8274A>C (p.Gln2758His)
c.896-29542A>C
c.3030+75A>C (n.3030+75A>C)
c.8148A>C (p.Gln2716His)
n.2077A>C
c.8277A>C (p.Gln2759His)
2g.73490233A>GCA1714435ALMS1c.7893A>G (p.Gln2631=)
c.1285A>G
c.5345A>G
c.2340A>G (p.Gln780=)
c.8274A>G (p.Gln2758=)
c.896-29542A>G
c.3030+75A>G (n.3030+75A>G)
c.8148A>G (p.Gln2716=)
n.2077A>G
c.8277A>G (p.Gln2759=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490233A>TCA347268082ALMS1c.7893A>T (p.Gln2631His)
c.1285A>T
c.5345A>T
c.2340A>T (p.Gln780His)
c.8274A>T (p.Gln2758His)
c.896-29542A>T
c.3030+75A>T (n.3030+75A>T)
c.8148A>T (p.Gln2716His)
n.2077A>T
c.8277A>T (p.Gln2759His)
2g.73490234A>CCA347268084ALMS1c.7894A>C (p.Asn2632His)
c.1286A>C
c.5346A>C
c.2341A>C (p.Asn781His)
c.8275A>C (p.Asn2759His)
c.896-29541A>C
c.3030+76A>C (n.3030+76A>C)
c.8149A>C (p.Asn2717His)
n.2078A>C
c.8278A>C (p.Asn2760His)
 gnomAD v4
2g.73490234A>GCA347268086ALMS1c.7894A>G (p.Asn2632Asp)
c.1286A>G
c.5346A>G
c.2341A>G (p.Asn781Asp)
c.8275A>G (p.Asn2759Asp)
c.896-29541A>G
c.3030+76A>G (n.3030+76A>G)
c.8149A>G (p.Asn2717Asp)
n.2078A>G
c.8278A>G (p.Asn2760Asp)
2g.73490234A>TCA347268087ALMS1c.7894A>T (p.Asn2632Tyr)
c.1286A>T
c.5346A>T
c.2341A>T (p.Asn781Tyr)
c.8275A>T (p.Asn2759Tyr)
c.896-29541A>T
c.3030+76A>T (n.3030+76A>T)
c.8149A>T (p.Asn2717Tyr)
n.2078A>T
c.8278A>T (p.Asn2760Tyr)
 ClinVar
2g.73490235A>CCA347268092ALMS1c.7895A>C (p.Asn2632Thr)
c.1287A>C
c.5347A>C
c.2342A>C (p.Asn781Thr)
c.8276A>C (p.Asn2759Thr)
c.896-29540A>C
c.3030+77A>C (n.3030+77A>C)
c.8150A>C (p.Asn2717Thr)
n.2079A>C
c.8279A>C (p.Asn2760Thr)
2g.73490235A>GCA347268089ALMS1c.7895A>G (p.Asn2632Ser)
c.1287A>G
c.5347A>G
c.2342A>G (p.Asn781Ser)
c.8276A>G (p.Asn2759Ser)
c.896-29540A>G
c.3030+77A>G (n.3030+77A>G)
c.8150A>G (p.Asn2717Ser)
n.2079A>G
c.8279A>G (p.Asn2760Ser)
 gnomAD v4
2g.73490235A>TCA347268091ALMS1c.7895A>T (p.Asn2632Ile)
c.1287A>T
c.5347A>T
c.2342A>T (p.Asn781Ile)
c.8276A>T (p.Asn2759Ile)
c.896-29540A>T
c.3030+77A>T (n.3030+77A>T)
c.8150A>T (p.Asn2717Ile)
n.2079A>T
c.8279A>T (p.Asn2760Ile)
2g.73490236T>ACA347268094ALMS1c.7896T>A (p.Asn2632Lys)
c.1288T>A
c.5348T>A
c.2343T>A (p.Asn781Lys)
c.8277T>A (p.Asn2759Lys)
c.896-29539T>A
c.3030+78T>A (n.3030+78T>A)
c.8151T>A (p.Asn2717Lys)
n.2080T>A
c.8280T>A (p.Asn2760Lys)
2g.73490236T>CCA427001370ALMS1c.7896T>C (p.Asn2632=)
c.1288T>C
c.5348T>C
c.2343T>C (p.Asn781=)
c.8277T>C (p.Asn2759=)
c.896-29539T>C
c.3030+78T>C (n.3030+78T>C)
c.8151T>C (p.Asn2717=)
n.2080T>C
c.8280T>C (p.Asn2760=)
2g.73490236T>GCA347268095ALMS1c.7896T>G (p.Asn2632Lys)
c.1288T>G
c.5348T>G
c.2343T>G (p.Asn781Lys)
c.8277T>G (p.Asn2759Lys)
c.896-29539T>G
c.3030+78T>G (n.3030+78T>G)
c.8151T>G (p.Asn2717Lys)
n.2080T>G
c.8280T>G (p.Asn2760Lys)
2g.73490237C>ACA347268097ALMS1c.7897C>A (p.Pro2633Thr)
c.1289C>A
c.5349C>A
c.2344C>A (p.Pro782Thr)
c.8278C>A (p.Pro2760Thr)
c.896-29538C>A
c.3030+79C>A (n.3030+79C>A)
c.8152C>A (p.Pro2718Thr)
n.2081C>A
c.8281C>A (p.Pro2761Thr)
2g.73490237C=CA1260981737ALMS1c.7897C= (p.Pro2633=)
c.1289C=
c.5349C=
c.2344C= (p.Pro782=)
c.8278C= (p.Pro2760=)
c.896-29538C=
c.3030+79C= (n.3030+79C=)
c.8152C= (p.Pro2718=)
n.2081C=
c.8281C= (p.Pro2761=)
2g.73490237C>GCA347268098ALMS1c.7897C>G (p.Pro2633Ala)
c.1289C>G
c.5349C>G
c.2344C>G (p.Pro782Ala)
c.8278C>G (p.Pro2760Ala)
c.896-29538C>G
c.3030+79C>G (n.3030+79C>G)
c.8152C>G (p.Pro2718Ala)
n.2081C>G
c.8281C>G (p.Pro2761Ala)
2g.73490237C>TCA1714436ALMS1c.7897C>T (p.Pro2633Ser)
c.1289C>T
c.5349C>T
c.2344C>T (p.Pro782Ser)
c.8278C>T (p.Pro2760Ser)
c.896-29538C>T
c.3030+79C>T (n.3030+79C>T)
c.8152C>T (p.Pro2718Ser)
n.2081C>T
c.8281C>T (p.Pro2761Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490238C>ACA1714438ALMS1c.7898C>A (p.Pro2633His)
c.1290C>A
c.5350C>A
c.2345C>A (p.Pro782His)
c.8279C>A (p.Pro2760His)
c.896-29537C>A
c.3030+80C>A (n.3030+80C>A)
c.8153C>A (p.Pro2718His)
n.2082C>A
c.8282C>A (p.Pro2761His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490238C=CA1260981741ALMS1c.7898C= (p.Pro2633=)
c.1290C=
c.5350C=
c.2345C= (p.Pro782=)
c.8279C= (p.Pro2760=)
c.896-29537C=
c.3030+80C= (n.3030+80C=)
c.8153C= (p.Pro2718=)
n.2082C=
c.8282C= (p.Pro2761=)
2g.73490238C>GCA1714437ALMS1c.7898C>G (p.Pro2633Arg)
c.1290C>G
c.5350C>G
c.2345C>G (p.Pro782Arg)
c.8279C>G (p.Pro2760Arg)
c.896-29537C>G
c.3030+80C>G (n.3030+80C>G)
c.8153C>G (p.Pro2718Arg)
n.2082C>G
c.8282C>G (p.Pro2761Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490238C>TCA347268102ALMS1c.7898C>T (p.Pro2633Leu)
c.1290C>T
c.5350C>T
c.2345C>T (p.Pro782Leu)
c.8279C>T (p.Pro2760Leu)
c.896-29537C>T
c.3030+80C>T (n.3030+80C>T)
c.8153C>T (p.Pro2718Leu)
n.2082C>T
c.8282C>T (p.Pro2761Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73490239T>ACA427001380ALMS1c.7899T>A (p.Pro2633=)
c.1291T>A
c.5351T>A
c.2346T>A (p.Pro782=)
c.8280T>A (p.Pro2760=)
c.896-29536T>A
c.3030+81T>A (n.3030+81T>A)
c.8154T>A (p.Pro2718=)
n.2083T>A
c.8283T>A (p.Pro2761=)
2g.73490239T>CCA427001382ALMS1c.7899T>C (p.Pro2633=)
c.1291T>C
c.5351T>C
c.2346T>C (p.Pro782=)
c.8280T>C (p.Pro2760=)
c.896-29536T>C
c.3030+81T>C (n.3030+81T>C)
c.8154T>C (p.Pro2718=)
n.2083T>C
c.8283T>C (p.Pro2761=)
2g.73490239T>GCA427001384ALMS1c.7899T>G (p.Pro2633=)
c.1291T>G
c.5351T>G
c.2346T>G (p.Pro782=)
c.8280T>G (p.Pro2760=)
c.896-29536T>G
c.3030+81T>G (n.3030+81T>G)
c.8154T>G (p.Pro2718=)
n.2083T>G
c.8283T>G (p.Pro2761=)
2g.73490240C>ACA347268104ALMS1c.7900C>A (p.Pro2634Thr)
c.1292C>A
c.5352C>A
c.2347C>A (p.Pro783Thr)
c.8281C>A (p.Pro2761Thr)
c.896-29535C>A
c.3030+82C>A (n.3030+82C>A)
c.8155C>A (p.Pro2719Thr)
n.2084C>A
c.8284C>A (p.Pro2762Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73490240C=CA1260981747ALMS1c.7900C= (p.Pro2634=)
c.1292C=
c.5352C=
c.2347C= (p.Pro783=)
c.8281C= (p.Pro2761=)
c.896-29535C=
c.3030+82C= (n.3030+82C=)
c.8155C= (p.Pro2719=)
n.2084C=
c.8284C= (p.Pro2762=)
2g.73490240C>GCA1714439ALMS1c.7900C>G (p.Pro2634Ala)
c.1292C>G
c.5352C>G
c.2347C>G (p.Pro783Ala)
c.8281C>G (p.Pro2761Ala)
c.896-29535C>G
c.3030+82C>G (n.3030+82C>G)
c.8155C>G (p.Pro2719Ala)
n.2084C>G
c.8284C>G (p.Pro2762Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490240C>TCA1714440ALMS1c.7900C>T (p.Pro2634Ser)
c.1292C>T
c.5352C>T
c.2347C>T (p.Pro783Ser)
c.8281C>T (p.Pro2761Ser)
c.896-29535C>T
c.3030+82C>T (n.3030+82C>T)
c.8155C>T (p.Pro2719Ser)
n.2084C>T
c.8284C>T (p.Pro2762Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490240_73490242delinsACTCA2580068250ALMS1c.7900_7902delinsACT (p.Pro2634Thr)
c.1292_1294delinsACT
c.5352_5354delinsACT
c.2347_2349delinsACT (p.Pro783Thr)
c.8281_8283delinsACT (p.Pro2761Thr)
c.896-29535_896-29533delinsACT
c.3030+82_3030+84delinsACT (n.3030+82_3030+84delinsACT)
c.8155_8157delinsACT (p.Pro2719Thr)
n.2084_2086delinsACT
c.8284_8286delinsACT (p.Pro2762Thr)
 ClinVar
2g.73490241C>ACA347268107ALMS1c.7901C>A (p.Pro2634His)
c.1293C>A
c.5353C>A
c.2348C>A (p.Pro783His)
c.8282C>A (p.Pro2761His)
c.896-29534C>A
c.3030+83C>A (n.3030+83C>A)
c.8156C>A (p.Pro2719His)
n.2085C>A
c.8285C>A (p.Pro2762His)
2g.73490241C>GCA347268108ALMS1c.7901C>G (p.Pro2634Arg)
c.1293C>G
c.5353C>G
c.2348C>G (p.Pro783Arg)
c.8282C>G (p.Pro2761Arg)
c.896-29534C>G
c.3030+83C>G (n.3030+83C>G)
c.8156C>G (p.Pro2719Arg)
n.2085C>G
c.8285C>G (p.Pro2762Arg)
2g.73490241C>TCA347268109ALMS1c.7901C>T (p.Pro2634Leu)
c.1293C>T
c.5353C>T
c.2348C>T (p.Pro783Leu)
c.8282C>T (p.Pro2761Leu)
c.896-29534C>T
c.3030+83C>T (n.3030+83C>T)
c.8156C>T (p.Pro2719Leu)
n.2085C>T
c.8285C>T (p.Pro2762Leu)
 gnomAD v4
2g.73490242C>ACA427001391ALMS1c.7902C>A (p.Pro2634=)
c.1294C>A
c.5354C>A
c.2349C>A (p.Pro783=)
c.8283C>A (p.Pro2761=)
c.896-29533C>A
c.3030+84C>A (n.3030+84C>A)
c.8157C>A (p.Pro2719=)
n.2086C>A
c.8286C>A (p.Pro2762=)
2g.73490242C=CA1260981755ALMS1c.7902C= (p.Pro2634=)
c.1294C=
c.5354C=
c.2349C= (p.Pro783=)
c.8283C= (p.Pro2761=)
c.896-29533C=
c.3030+84C= (n.3030+84C=)
c.8157C= (p.Pro2719=)
n.2086C=
c.8286C= (p.Pro2762=)
2g.73490242C>GCA427001393ALMS1c.7902C>G (p.Pro2634=)
c.1294C>G
c.5354C>G
c.2349C>G (p.Pro783=)
c.8283C>G (p.Pro2761=)
c.896-29533C>G
c.3030+84C>G (n.3030+84C>G)
c.8157C>G (p.Pro2719=)
n.2086C>G
c.8286C>G (p.Pro2762=)
2g.73490242C>TCA427001395ALMS1c.7902C>T (p.Pro2634=)
c.1294C>T
c.5354C>T
c.2349C>T (p.Pro783=)
c.8283C>T (p.Pro2761=)
c.896-29533C>T
c.3030+84C>T (n.3030+84C>T)
c.8157C>T (p.Pro2719=)
n.2086C>T
c.8286C>T (p.Pro2762=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73490242_73490244delCA2750465617ALMS1c.7902_7904del (p.Arg2635del)
c.1294_1296del
c.5354_5356del
c.2349_2351del (p.Arg784del)
c.8283_8285del (p.Arg2762del)
c.896-29533_896-29531del
c.3030+84_3030+86del (n.3030+84_3030+86del)
c.8157_8159del (p.Arg2720del)
n.2086_2088del
c.8286_8288del (p.Arg2763del)
2g.73490243A=CA1260981767ALMS1c.7903A= (p.Arg2635=)
c.1295A=
c.5355A=
c.2350A= (p.Arg784=)
c.8284A= (p.Arg2762=)
c.896-29532A=
c.3030+85A= (n.3030+85A=)
c.8158A= (p.Arg2720=)
n.2087A=
c.8287A= (p.Arg2763=)
2g.73490243A>CCA427001397ALMS1c.7903A>C (p.Arg2635=)
c.1295A>C
c.5355A>C
c.2350A>C (p.Arg784=)
c.8284A>C (p.Arg2762=)
c.896-29532A>C
c.3030+85A>C (n.3030+85A>C)
c.8158A>C (p.Arg2720=)
n.2087A>C
c.8287A>C (p.Arg2763=)
2g.73490243A>GCA347268110ALMS1c.7903A>G (p.Arg2635Gly)
c.1295A>G
c.5355A>G
c.2350A>G (p.Arg784Gly)
c.8284A>G (p.Arg2762Gly)
c.896-29532A>G
c.3030+85A>G (n.3030+85A>G)
c.8158A>G (p.Arg2720Gly)
n.2087A>G
c.8287A>G (p.Arg2763Gly)
2g.73490243A>TCA347268111ALMS1c.7903A>T (p.Arg2635Ter)
c.1295A>T
c.5355A>T
c.2350A>T (p.Arg784Ter)
c.8284A>T (p.Arg2762Ter)
c.896-29532A>T
c.3030+85A>T (n.3030+85A>T)
c.8158A>T (p.Arg2720Ter)
n.2087A>T
c.8287A>T (p.Arg2763Ter)
 dbSNP gnomAD v3 gnomAD v4
2g.73490244G>ACA347268113ALMS1c.7904G>A (p.Arg2635Lys)
c.1296G>A
c.5356G>A
c.2351G>A (p.Arg784Lys)
c.8285G>A (p.Arg2762Lys)
c.896-29531G>A
c.3030+86G>A (n.3030+86G>A)
c.8159G>A (p.Arg2720Lys)
n.2088G>A
c.8288G>A (p.Arg2763Lys)
2g.73490244G>CCA347268115ALMS1c.7904G>C (p.Arg2635Thr)
c.1296G>C
c.5356G>C
c.2351G>C (p.Arg784Thr)
c.8285G>C (p.Arg2762Thr)
c.896-29531G>C
c.3030+86G>C (n.3030+86G>C)
c.8159G>C (p.Arg2720Thr)
n.2088G>C
c.8288G>C (p.Arg2763Thr)
2g.73490244G>TCA347268116ALMS1c.7904G>T (p.Arg2635Ile)
c.1296G>T
c.5356G>T
c.2351G>T (p.Arg784Ile)
c.8285G>T (p.Arg2762Ile)
c.896-29531G>T
c.3030+86G>T (n.3030+86G>T)
c.8159G>T (p.Arg2720Ile)
n.2088G>T
c.8288G>T (p.Arg2763Ile)
2g.73490245A>CCA347268117ALMS1c.7905A>C (p.Arg2635Ser)
c.1297A>C
c.5357A>C
c.2352A>C (p.Arg784Ser)
c.8286A>C (p.Arg2762Ser)
c.896-29530A>C
c.3030+87A>C (n.3030+87A>C)
c.8160A>C (p.Arg2720Ser)
n.2089A>C
c.8289A>C (p.Arg2763Ser)
2g.73490245A>GCA427001402ALMS1c.7905A>G (p.Arg2635=)
c.1297A>G
c.5357A>G
c.2352A>G (p.Arg784=)
c.8286A>G (p.Arg2762=)
c.896-29530A>G
c.3030+87A>G (n.3030+87A>G)
c.8160A>G (p.Arg2720=)
n.2089A>G
c.8289A>G (p.Arg2763=)
 ClinVar dbSNP
2g.73490245A>TCA347268119ALMS1c.7905A>T (p.Arg2635Ser)
c.1297A>T
c.5357A>T
c.2352A>T (p.Arg784Ser)
c.8286A>T (p.Arg2762Ser)
c.896-29530A>T
c.3030+87A>T (n.3030+87A>T)
c.8160A>T (p.Arg2720Ser)
n.2089A>T
c.8289A>T (p.Arg2763Ser)
2g.73490246G>ACA347268121ALMS1c.7906G>A (p.Asp2636Asn)
c.1298G>A
c.5358G>A
c.2353G>A (p.Asp785Asn)
c.8287G>A (p.Asp2763Asn)
c.896-29529G>A
c.3030+88G>A (n.3030+88G>A)
c.8161G>A (p.Asp2721Asn)
n.2090G>A
c.8290G>A (p.Asp2764Asn)
2g.73490246G>CCA347268123ALMS1c.7906G>C (p.Asp2636His)
c.1298G>C
c.5358G>C
c.2353G>C (p.Asp785His)
c.8287G>C (p.Asp2763His)
c.896-29529G>C
c.3030+88G>C (n.3030+88G>C)
c.8161G>C (p.Asp2721His)
n.2090G>C
c.8290G>C (p.Asp2764His)
2g.73490246G>TCA347268125ALMS1c.7906G>T (p.Asp2636Tyr)
c.1298G>T
c.5358G>T
c.2353G>T (p.Asp785Tyr)
c.8287G>T (p.Asp2763Tyr)
c.896-29529G>T
c.3030+88G>T (n.3030+88G>T)
c.8161G>T (p.Asp2721Tyr)
n.2090G>T
c.8290G>T (p.Asp2764Tyr)
2g.73490247A=CA1260981771ALMS1c.7907A= (p.Asp2636=)
c.1299A=
c.5359A=
c.2354A= (p.Asp785=)
c.8288A= (p.Asp2763=)
c.896-29528A=
c.3030+89A= (n.3030+89A=)
c.8162A= (p.Asp2721=)
n.2091A=
c.8291A= (p.Asp2764=)
2g.73490247A>CCA347268127ALMS1c.7907A>C (p.Asp2636Ala)
c.1299A>C
c.5359A>C
c.2354A>C (p.Asp785Ala)
c.8288A>C (p.Asp2763Ala)
c.896-29528A>C
c.3030+89A>C (n.3030+89A>C)
c.8162A>C (p.Asp2721Ala)
n.2091A>C
c.8291A>C (p.Asp2764Ala)
2g.73490247A>GCA347268129ALMS1c.7907A>G (p.Asp2636Gly)
c.1299A>G
c.5359A>G
c.2354A>G (p.Asp785Gly)
c.8288A>G (p.Asp2763Gly)
c.896-29528A>G
c.3030+89A>G (n.3030+89A>G)
c.8162A>G (p.Asp2721Gly)
n.2091A>G
c.8291A>G (p.Asp2764Gly)
 dbSNP
2g.73490247A>TCA347268130ALMS1c.7907A>T (p.Asp2636Val)
c.1299A>T
c.5359A>T
c.2354A>T (p.Asp785Val)
c.8288A>T (p.Asp2763Val)
c.896-29528A>T
c.3030+89A>T (n.3030+89A>T)
c.8162A>T (p.Asp2721Val)
n.2091A>T
c.8291A>T (p.Asp2764Val)
 gnomAD v4
2g.73490248T>ACA347268134ALMS1c.7908T>A (p.Asp2636Glu)
c.1300T>A
c.5360T>A
c.2355T>A (p.Asp785Glu)
c.8289T>A (p.Asp2763Glu)
c.896-29527T>A
c.3030+90T>A (n.3030+90T>A)
c.8163T>A (p.Asp2721Glu)
n.2092T>A
c.8292T>A (p.Asp2764Glu)
2g.73490248T>CCA427001413ALMS1c.7908T>C (p.Asp2636=)
c.1300T>C
c.5360T>C
c.2355T>C (p.Asp785=)
c.8289T>C (p.Asp2763=)
c.896-29527T>C
c.3030+90T>C (n.3030+90T>C)
c.8163T>C (p.Asp2721=)
n.2092T>C
c.8292T>C (p.Asp2764=)
2g.73490248T>GCA347268132ALMS1c.7908T>G (p.Asp2636Glu)
c.1300T>G
c.5360T>G
c.2355T>G (p.Asp785Glu)
c.8289T>G (p.Asp2763Glu)
c.896-29527T>G
c.3030+90T>G (n.3030+90T>G)
c.8163T>G (p.Asp2721Glu)
n.2092T>G
c.8292T>G (p.Asp2764Glu)
2g.73490249C>ACA347268135ALMS1c.7909C>A (p.Leu2637Ile)
c.1301C>A
c.5361C>A
c.2356C>A (p.Leu786Ile)
c.8290C>A (p.Leu2764Ile)
c.896-29526C>A
c.3030+91C>A (n.3030+91C>A)
c.8164C>A (p.Leu2722Ile)
n.2093C>A
c.8293C>A (p.Leu2765Ile)
 gnomAD v4
2g.73490249C=CA1260981774ALMS1c.7909C= (p.Leu2637=)
c.1301C=
c.5361C=
c.2356C= (p.Leu786=)
c.8290C= (p.Leu2764=)
c.896-29526C=
c.3030+91C= (n.3030+91C=)
c.8164C= (p.Leu2722=)
n.2093C=
c.8293C= (p.Leu2765=)
2g.73490249C>GCA347268137ALMS1c.7909C>G (p.Leu2637Val)
c.1301C>G
c.5361C>G
c.2356C>G (p.Leu786Val)
c.8290C>G (p.Leu2764Val)
c.896-29526C>G
c.3030+91C>G (n.3030+91C>G)
c.8164C>G (p.Leu2722Val)
n.2093C>G
c.8293C>G (p.Leu2765Val)
2g.73490249C>TCA347268138ALMS1c.7909C>T (p.Leu2637Phe)
c.1301C>T
c.5361C>T
c.2356C>T (p.Leu786Phe)
c.8290C>T (p.Leu2764Phe)
c.896-29526C>T
c.3030+91C>T (n.3030+91C>T)
c.8164C>T (p.Leu2722Phe)
n.2093C>T
c.8293C>T (p.Leu2765Phe)
 ClinVar dbSNP
2g.73490249_73490256delinsCTTAAACACA1260981773ALMS1c.7909_7916delinsCTTAAACA (p.Leu2637=)
c.1301_1308delinsCTTAAACA
c.5361_5368delinsCTTAAACA
c.2356_2363delinsCTTAAACA (p.Leu786=)
c.8290_8297delinsCTTAAACA (p.Leu2764=)
c.896-29526_896-29519delinsCTTAAACA
c.3030+91_3030+98delinsCTTAAACA (n.3030+91_3030+98delinsCTTAAACA)
c.8164_8171delinsCTTAAACA (p.Leu2722=)
n.2093_2100delinsCTTAAACA
c.8293_8300delinsCTTAAACA (p.Leu2765=)
2g.73490250T>ACA347268140ALMS1c.7910T>A (p.Leu2637His)
c.1302T>A
c.5362T>A
c.2357T>A (p.Leu786His)
c.8291T>A (p.Leu2764His)
c.896-29525T>A
c.3030+92T>A (n.3030+92T>A)
c.8165T>A (p.Leu2722His)
n.2094T>A
c.8294T>A (p.Leu2765His)
2g.73490250T>CCA347268142ALMS1c.7910T>C (p.Leu2637Pro)
c.1302T>C
c.5362T>C
c.2357T>C (p.Leu786Pro)
c.8291T>C (p.Leu2764Pro)
c.896-29525T>C
c.3030+92T>C (n.3030+92T>C)
c.8165T>C (p.Leu2722Pro)
n.2094T>C
c.8294T>C (p.Leu2765Pro)
 gnomAD v4
2g.73490250T>GCA347268143ALMS1c.7910T>G (p.Leu2637Arg)
c.1302T>G
c.5362T>G
c.2357T>G (p.Leu786Arg)
c.8291T>G (p.Leu2764Arg)
c.896-29525T>G
c.3030+92T>G (n.3030+92T>G)
c.8165T>G (p.Leu2722Arg)
n.2094T>G
c.8294T>G (p.Leu2765Arg)
2g.73490250_73490251dupCA1260981782ALMS1c.7910_7911dup (p.Lys2638LeufsTer22)
c.1302_1303dup
c.5362_5363dup
c.2357_2358dup (p.Lys787LeufsTer22)
c.8291_8292dup (p.Lys2765LeufsTer22)
c.896-29525_896-29524dup
c.3030+92_3030+93dup (n.3030+92_3030+93dup)
c.8165_8166dup (p.Lys2723LeufsTer22)
n.2094_2095dup
c.8294_8295dup (p.Lys2766LeufsTer22)
 dbSNP
2g.73490250_73490256delCA534125525ALMS1c.7910_7916del (p.Leu2637ArgfsTer20)
c.1302_1308del
c.5362_5368del
c.2357_2363del (p.Leu786ArgfsTer20)
c.8291_8297del (p.Leu2764ArgfsTer20)
c.896-29525_896-29519del
c.3030+92_3030+98del (n.3030+92_3030+98del)
c.8165_8171del (p.Leu2722ArgfsTer20)
n.2094_2100del
c.8294_8300del (p.Leu2765ArgfsTer20)
 dbSNP gnomAD v2
2g.73490251T>ACA427001422ALMS1c.7911T>A (p.Leu2637=)
c.1303T>A
c.5363T>A
c.2358T>A (p.Leu786=)
c.8292T>A (p.Leu2764=)
c.896-29524T>A
c.3030+93T>A (n.3030+93T>A)
c.8166T>A (p.Leu2722=)
n.2095T>A
c.8295T>A (p.Leu2765=)
2g.73490251T>CCA427001424ALMS1c.7911T>C (p.Leu2637=)
c.1303T>C
c.5363T>C
c.2358T>C (p.Leu786=)
c.8292T>C (p.Leu2764=)
c.896-29524T>C
c.3030+93T>C (n.3030+93T>C)
c.8166T>C (p.Leu2722=)
n.2095T>C
c.8295T>C (p.Leu2765=)
2g.73490251T>GCA427001425ALMS1c.7911T>G (p.Leu2637=)
c.1303T>G
c.5363T>G
c.2358T>G (p.Leu786=)
c.8292T>G (p.Leu2764=)
c.896-29524T>G
c.3030+93T>G (n.3030+93T>G)
c.8166T>G (p.Leu2722=)
n.2095T>G
c.8295T>G (p.Leu2765=)
2g.73490252A=CA1260981784ALMS1c.7912A= (p.Lys2638=)
c.1304A=
c.5364A=
c.2359A= (p.Lys787=)
c.8293A= (p.Lys2765=)
c.896-29523A=
c.3030+94A= (n.3030+94A=)
c.8167A= (p.Lys2723=)
n.2096A=
c.8296A= (p.Lys2766=)
2g.73490252A>CCA347268145ALMS1c.7912A>C (p.Lys2638Gln)
c.1304A>C
c.5364A>C
c.2359A>C (p.Lys787Gln)
c.8293A>C (p.Lys2765Gln)
c.896-29523A>C
c.3030+94A>C (n.3030+94A>C)
c.8167A>C (p.Lys2723Gln)
n.2096A>C
c.8296A>C (p.Lys2766Gln)
 dbSNP
2g.73490252A>GCA347268148ALMS1c.7912A>G (p.Lys2638Glu)
c.1304A>G
c.5364A>G
c.2359A>G (p.Lys787Glu)
c.8293A>G (p.Lys2765Glu)
c.896-29523A>G
c.3030+94A>G (n.3030+94A>G)
c.8167A>G (p.Lys2723Glu)
n.2096A>G
c.8296A>G (p.Lys2766Glu)
2g.73490252A>TCA347268147ALMS1c.7912A>T (p.Lys2638Ter)
c.1304A>T
c.5364A>T
c.2359A>T (p.Lys787Ter)
c.8293A>T (p.Lys2765Ter)
c.896-29523A>T
c.3030+94A>T (n.3030+94A>T)
c.8167A>T (p.Lys2723Ter)
n.2096A>T
c.8296A>T (p.Lys2766Ter)
2g.73490254dupCA2739271087ALMS1c.7914dup (p.Gln2639ThrfsTer10)
c.1306dup
c.5366dup
c.2361dup (p.Gln788ThrfsTer10)
c.8295dup (p.Gln2766ThrfsTer10)
c.896-29521dup
c.3030+96dup (n.3030+96dup)
c.8169dup (p.Gln2724ThrfsTer10)
n.2098dup
c.8298dup (p.Gln2767ThrfsTer10)
 ClinVar
2g.73490253A>CCA347268150ALMS1c.7913A>C (p.Lys2638Thr)
c.1305A>C
c.5365A>C
c.2360A>C (p.Lys787Thr)
c.8294A>C (p.Lys2765Thr)
c.896-29522A>C
c.3030+95A>C (n.3030+95A>C)
c.8168A>C (p.Lys2723Thr)
n.2097A>C
c.8297A>C (p.Lys2766Thr)
2g.73490253A>GCA347268151ALMS1c.7913A>G (p.Lys2638Arg)
c.1305A>G
c.5365A>G
c.2360A>G (p.Lys787Arg)
c.8294A>G (p.Lys2765Arg)
c.896-29522A>G
c.3030+95A>G (n.3030+95A>G)
c.8168A>G (p.Lys2723Arg)
n.2097A>G
c.8297A>G (p.Lys2766Arg)
2g.73490253A>TCA347268153ALMS1c.7913A>T (p.Lys2638Ile)
c.1305A>T
c.5365A>T
c.2360A>T (p.Lys787Ile)
c.8294A>T (p.Lys2765Ile)
c.896-29522A>T
c.3030+95A>T (n.3030+95A>T)
c.8168A>T (p.Lys2723Ile)
n.2097A>T
c.8297A>T (p.Lys2766Ile)
2g.73490254A>CCA347268155ALMS1c.7914A>C (p.Lys2638Asn)
c.1306A>C
c.5366A>C
c.2361A>C (p.Lys787Asn)
c.8295A>C (p.Lys2765Asn)
c.896-29521A>C
c.3030+96A>C (n.3030+96A>C)
c.8169A>C (p.Lys2723Asn)
n.2098A>C
c.8298A>C (p.Lys2766Asn)
2g.73490254A>GCA427001430ALMS1c.7914A>G (p.Lys2638=)
c.1306A>G
c.5366A>G
c.2361A>G (p.Lys787=)
c.8295A>G (p.Lys2765=)
c.896-29521A>G
c.3030+96A>G (n.3030+96A>G)
c.8169A>G (p.Lys2723=)
n.2098A>G
c.8298A>G (p.Lys2766=)
 gnomAD v4
2g.73490254A>TCA347268156ALMS1c.7914A>T (p.Lys2638Asn)
c.1306A>T
c.5366A>T
c.2361A>T (p.Lys787Asn)
c.8295A>T (p.Lys2765Asn)
c.896-29521A>T
c.3030+96A>T (n.3030+96A>T)
c.8169A>T (p.Lys2723Asn)
n.2098A>T
c.8298A>T (p.Lys2766Asn)
2g.73490255C>ACA347268158ALMS1c.7915C>A (p.Gln2639Lys)
c.1307C>A
c.5367C>A
c.2362C>A (p.Gln788Lys)
c.8296C>A (p.Gln2766Lys)
c.896-29520C>A
c.3030+97C>A (n.3030+97C>A)
c.8170C>A (p.Gln2724Lys)
n.2099C>A
c.8299C>A (p.Gln2767Lys)
2g.73490255C>GCA347268160ALMS1c.7915C>G (p.Gln2639Glu)
c.1307C>G
c.5367C>G
c.2362C>G (p.Gln788Glu)
c.8296C>G (p.Gln2766Glu)
c.896-29520C>G
c.3030+97C>G (n.3030+97C>G)
c.8170C>G (p.Gln2724Glu)
n.2099C>G
c.8299C>G (p.Gln2767Glu)
 ClinVar
2g.73490255C>TCA347268161ALMS1c.7915C>T (p.Gln2639Ter)
c.1307C>T
c.5367C>T
c.2362C>T (p.Gln788Ter)
c.8296C>T (p.Gln2766Ter)
c.896-29520C>T
c.3030+97C>T (n.3030+97C>T)
c.8170C>T (p.Gln2724Ter)
n.2099C>T
c.8299C>T (p.Gln2767Ter)
 gnomAD v4
2g.73490256A>CCA347268163ALMS1c.7916A>C (p.Gln2639Pro)
c.1308A>C
c.5368A>C
c.2363A>C (p.Gln788Pro)
c.8297A>C (p.Gln2766Pro)
c.896-29519A>C
c.3030+98A>C (n.3030+98A>C)
c.8171A>C (p.Gln2724Pro)
n.2100A>C
c.8300A>C (p.Gln2767Pro)
2g.73490256A>GCA347268165ALMS1c.7916A>G (p.Gln2639Arg)
c.1308A>G
c.5368A>G
c.2363A>G (p.Gln788Arg)
c.8297A>G (p.Gln2766Arg)
c.896-29519A>G
c.3030+98A>G (n.3030+98A>G)
c.8171A>G (p.Gln2724Arg)
n.2100A>G
c.8300A>G (p.Gln2767Arg)
2g.73490256A>TCA347268167ALMS1c.7916A>T (p.Gln2639Leu)
c.1308A>T
c.5368A>T
c.2363A>T (p.Gln788Leu)
c.8297A>T (p.Gln2766Leu)
c.896-29519A>T
c.3030+98A>T (n.3030+98A>T)
c.8171A>T (p.Gln2724Leu)
n.2100A>T
c.8300A>T (p.Gln2767Leu)
2g.73490257G>ACA427001443ALMS1c.7917G>A (p.Gln2639=)
c.1309G>A
c.5369G>A
c.2364G>A (p.Gln788=)
c.8298G>A (p.Gln2766=)
c.896-29518G>A
c.3030+99G>A (n.3030+99G>A)
c.8172G>A (p.Gln2724=)
n.2101G>A
c.8301G>A (p.Gln2767=)
 ClinVar
2g.73490257G>CCA347268169ALMS1c.7917G>C (p.Gln2639His)
c.1309G>C
c.5369G>C
c.2364G>C (p.Gln788His)
c.8298G>C (p.Gln2766His)
c.896-29518G>C
c.3030+99G>C (n.3030+99G>C)
c.8172G>C (p.Gln2724His)
n.2101G>C
c.8301G>C (p.Gln2767His)
2g.73490257G>TCA347268170ALMS1c.7917G>T (p.Gln2639His)
c.1309G>T
c.5369G>T
c.2364G>T (p.Gln788His)
c.8298G>T (p.Gln2766His)
c.896-29518G>T
c.3030+99G>T (n.3030+99G>T)
c.8172G>T (p.Gln2724His)
n.2101G>T
c.8301G>T (p.Gln2767His)
2g.73490258A=CA1260981786ALMS1c.7918A= (p.Lys2640=)
c.1310A=
c.5370A=
c.2365A= (p.Lys789=)
c.8299A= (p.Lys2767=)
c.896-29517A=
c.3030+100A= (n.3030+100A=)
c.8173A= (p.Lys2725=)
n.2102A=
c.8302A= (p.Lys2768=)
2g.73490258A>CCA347268172ALMS1c.7918A>C (p.Lys2640Gln)
c.1310A>C
c.5370A>C
c.2365A>C (p.Lys789Gln)
c.8299A>C (p.Lys2767Gln)
c.896-29517A>C
c.3030+100A>C (n.3030+100A>C)
c.8173A>C (p.Lys2725Gln)
n.2102A>C
c.8302A>C (p.Lys2768Gln)
2g.73490258A>GCA1714441ALMS1c.7918A>G (p.Lys2640Glu)
c.1310A>G
c.5370A>G
c.2365A>G (p.Lys789Glu)
c.8299A>G (p.Lys2767Glu)
c.896-29517A>G
c.3030+100A>G (n.3030+100A>G)
c.8173A>G (p.Lys2725Glu)
n.2102A>G
c.8302A>G (p.Lys2768Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490258A>TCA347268174ALMS1c.7918A>T (p.Lys2640Ter)
c.1310A>T
c.5370A>T
c.2365A>T (p.Lys789Ter)
c.8299A>T (p.Lys2767Ter)
c.896-29517A>T
c.3030+100A>T (n.3030+100A>T)
c.8173A>T (p.Lys2725Ter)
n.2102A>T
c.8302A>T (p.Lys2768Ter)
2g.73490259A=CA1260981789ALMS1c.7919A= (p.Lys2640=)
c.1311A=
c.5371A=
c.2366A= (p.Lys789=)
c.8300A= (p.Lys2767=)
c.896-29516A=
c.3030+101A= (n.3030+101A=)
c.8174A= (p.Lys2725=)
n.2103A=
c.8303A= (p.Lys2768=)
2g.73490259A>CCA347268176ALMS1c.7919A>C (p.Lys2640Thr)
c.1311A>C
c.5371A>C
c.2366A>C (p.Lys789Thr)
c.8300A>C (p.Lys2767Thr)
c.896-29516A>C
c.3030+101A>C (n.3030+101A>C)
c.8174A>C (p.Lys2725Thr)
n.2103A>C
c.8303A>C (p.Lys2768Thr)
2g.73490259A>GCA1714442ALMS1c.7919A>G (p.Lys2640Arg)
c.1311A>G
c.5371A>G
c.2366A>G (p.Lys789Arg)
c.8300A>G (p.Lys2767Arg)
c.896-29516A>G
c.3030+101A>G (n.3030+101A>G)
c.8174A>G (p.Lys2725Arg)
n.2103A>G
c.8303A>G (p.Lys2768Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490259A>TCA347268178ALMS1c.7919A>T (p.Lys2640Ile)
c.1311A>T
c.5371A>T
c.2366A>T (p.Lys789Ile)
c.8300A>T (p.Lys2767Ile)
c.896-29516A>T
c.3030+101A>T (n.3030+101A>T)
c.8174A>T (p.Lys2725Ile)
n.2103A>T
c.8303A>T (p.Lys2768Ile)
2g.73490260A>CCA347268180ALMS1c.7920A>C (p.Lys2640Asn)
c.1312A>C
c.5372A>C
c.2367A>C (p.Lys789Asn)
c.8301A>C (p.Lys2767Asn)
c.896-29515A>C
c.3030+102A>C (n.3030+102A>C)
c.8175A>C (p.Lys2725Asn)
n.2104A>C
c.8304A>C (p.Lys2768Asn)
2g.73490260A>GCA427001449ALMS1c.7920A>G (p.Lys2640=)
c.1312A>G
c.5372A>G
c.2367A>G (p.Lys789=)
c.8301A>G (p.Lys2767=)
c.896-29515A>G
c.3030+102A>G (n.3030+102A>G)
c.8175A>G (p.Lys2725=)
n.2104A>G
c.8304A>G (p.Lys2768=)
2g.73490260A>TCA347268181ALMS1c.7920A>T (p.Lys2640Asn)
c.1312A>T
c.5372A>T
c.2367A>T (p.Lys789Asn)
c.8301A>T (p.Lys2767Asn)
c.896-29515A>T
c.3030+102A>T (n.3030+102A>T)
c.8175A>T (p.Lys2725Asn)
n.2104A>T
c.8304A>T (p.Lys2768Asn)
2g.73490261A>CCA347268183ALMS1c.7921A>C (p.Thr2641Pro)
c.1313A>C
c.5373A>C
c.2368A>C (p.Thr790Pro)
c.8302A>C (p.Thr2768Pro)
c.896-29514A>C
c.3030+103A>C (n.3030+103A>C)
c.8176A>C (p.Thr2726Pro)
n.2105A>C
c.8305A>C (p.Thr2769Pro)
2g.73490261A>GCA347268185ALMS1c.7921A>G (p.Thr2641Ala)
c.1313A>G
c.5373A>G
c.2368A>G (p.Thr790Ala)
c.8302A>G (p.Thr2768Ala)
c.896-29514A>G
c.3030+103A>G (n.3030+103A>G)
c.8176A>G (p.Thr2726Ala)
n.2105A>G
c.8305A>G (p.Thr2769Ala)
2g.73490261A>TCA347268187ALMS1c.7921A>T (p.Thr2641Ser)
c.1313A>T
c.5373A>T
c.2368A>T (p.Thr790Ser)
c.8302A>T (p.Thr2768Ser)
c.896-29514A>T
c.3030+103A>T (n.3030+103A>T)
c.8176A>T (p.Thr2726Ser)
n.2105A>T
c.8305A>T (p.Thr2769Ser)
2g.73490262C>ACA347268188ALMS1c.7922C>A (p.Thr2641Asn)
c.1314C>A
c.5374C>A
c.2369C>A (p.Thr790Asn)
c.8303C>A (p.Thr2768Asn)
c.896-29513C>A
c.3030+104C>A (n.3030+104C>A)
c.8177C>A (p.Thr2726Asn)
n.2106C>A
c.8306C>A (p.Thr2769Asn)
2g.73490262C>GCA347268189ALMS1c.7922C>G (p.Thr2641Ser)
c.1314C>G
c.5374C>G
c.2369C>G (p.Thr790Ser)
c.8303C>G (p.Thr2768Ser)
c.896-29513C>G
c.3030+104C>G (n.3030+104C>G)
c.8177C>G (p.Thr2726Ser)
n.2106C>G
c.8306C>G (p.Thr2769Ser)
2g.73490262C>TCA347268191ALMS1c.7922C>T (p.Thr2641Ile)
c.1314C>T
c.5374C>T
c.2369C>T (p.Thr790Ile)
c.8303C>T (p.Thr2768Ile)
c.896-29513C>T
c.3030+104C>T (n.3030+104C>T)
c.8177C>T (p.Thr2726Ile)
n.2106C>T
c.8306C>T (p.Thr2769Ile)
 gnomAD v4
2g.73490263C>ACA427001457ALMS1c.7923C>A (p.Thr2641=)
c.1315C>A
c.5375C>A
c.2370C>A (p.Thr790=)
c.8304C>A (p.Thr2768=)
c.896-29512C>A
c.3030+105C>A (n.3030+105C>A)
c.8178C>A (p.Thr2726=)
n.2107C>A
c.8307C>A (p.Thr2769=)
 ClinVar dbSNP gnomAD v4
2g.73490263C>GCA427001461ALMS1c.7923C>G (p.Thr2641=)
c.1315C>G
c.5375C>G
c.2370C>G (p.Thr790=)
c.8304C>G (p.Thr2768=)
c.896-29512C>G
c.3030+105C>G (n.3030+105C>G)
c.8178C>G (p.Thr2726=)
n.2107C>G
c.8307C>G (p.Thr2769=)
 ClinVar gnomAD v4
2g.73490263C>TCA427001459ALMS1c.7923C>T (p.Thr2641=)
c.1315C>T
c.5375C>T
c.2370C>T (p.Thr790=)
c.8304C>T (p.Thr2768=)
c.896-29512C>T
c.3030+105C>T (n.3030+105C>T)
c.8178C>T (p.Thr2726=)
n.2107C>T
c.8307C>T (p.Thr2769=)
2g.73490265_73490266delCA2586969433ALMS1c.7925_7926del (p.Ser2642PhefsTer6)
c.1317_1318del
c.5377_5378del
c.2372_2373del (p.Ser791PhefsTer6)
c.8306_8307del (p.Ser2769PhefsTer6)
c.896-29510_896-29509del
c.3030+107_3030+108del (n.3030+107_3030+108del)
c.8180_8181del (p.Ser2727PhefsTer6)
n.2109_2110del
c.8309_8310del (p.Ser2770PhefsTer6)
2g.73490264T>ACA347268194ALMS1c.7924T>A (p.Ser2642Thr)
c.1316T>A
c.5376T>A
c.2371T>A (p.Ser791Thr)
c.8305T>A (p.Ser2769Thr)
c.896-29511T>A
c.3030+106T>A (n.3030+106T>A)
c.8179T>A (p.Ser2727Thr)
n.2108T>A
c.8308T>A (p.Ser2770Thr)
2g.73490264T>CCA347268193ALMS1c.7924T>C (p.Ser2642Pro)
c.1316T>C
c.5376T>C
c.2371T>C (p.Ser791Pro)
c.8305T>C (p.Ser2769Pro)
c.896-29511T>C
c.3030+106T>C (n.3030+106T>C)
c.8179T>C (p.Ser2727Pro)
n.2108T>C
c.8308T>C (p.Ser2770Pro)
2g.73490264T>GCA347268192ALMS1c.7924T>G (p.Ser2642Ala)
c.1316T>G
c.5376T>G
c.2371T>G (p.Ser791Ala)
c.8305T>G (p.Ser2769Ala)
c.896-29511T>G
c.3030+106T>G (n.3030+106T>G)
c.8179T>G (p.Ser2727Ala)
n.2108T>G
c.8308T>G (p.Ser2770Ala)
2g.73490265C>ACA347268196ALMS1c.7925C>A (p.Ser2642Tyr)
c.1317C>A
c.5377C>A
c.2372C>A (p.Ser791Tyr)
c.8306C>A (p.Ser2769Tyr)
c.896-29510C>A
c.3030+107C>A (n.3030+107C>A)
c.8180C>A (p.Ser2727Tyr)
n.2109C>A
c.8309C>A (p.Ser2770Tyr)
2g.73490265C=CA1260981792ALMS1c.7925C= (p.Ser2642=)
c.1317C=
c.5377C=
c.2372C= (p.Ser791=)
c.8306C= (p.Ser2769=)
c.896-29510C=
c.3030+107C= (n.3030+107C=)
c.8180C= (p.Ser2727=)
n.2109C=
c.8309C= (p.Ser2770=)
2g.73490265C>GCA347268197ALMS1c.7925C>G (p.Ser2642Cys)
c.1317C>G
c.5377C>G
c.2372C>G (p.Ser791Cys)
c.8306C>G (p.Ser2769Cys)
c.896-29510C>G
c.3030+107C>G (n.3030+107C>G)
c.8180C>G (p.Ser2727Cys)
n.2109C>G
c.8309C>G (p.Ser2770Cys)
2g.73490265C>TCA16611111ALMS1c.7925C>T (p.Ser2642Phe)
c.1317C>T
c.5377C>T
c.2372C>T (p.Ser791Phe)
c.8306C>T (p.Ser2769Phe)
c.896-29510C>T
c.3030+107C>T (n.3030+107C>T)
c.8180C>T (p.Ser2727Phe)
n.2109C>T
c.8309C>T (p.Ser2770Phe)
 ClinVar dbSNP gnomAD v4
2g.73490266T>ACA427001468ALMS1c.7926T>A (p.Ser2642=)
c.1318T>A
c.5378T>A
c.2373T>A (p.Ser791=)
c.8307T>A (p.Ser2769=)
c.896-29509T>A
c.3030+108T>A (n.3030+108T>A)
c.8181T>A (p.Ser2727=)
n.2110T>A
c.8310T>A (p.Ser2770=)
2g.73490266T>CCA427001467ALMS1c.7926T>C (p.Ser2642=)
c.1318T>C
c.5378T>C
c.2373T>C (p.Ser791=)
c.8307T>C (p.Ser2769=)
c.896-29509T>C
c.3030+108T>C (n.3030+108T>C)
c.8181T>C (p.Ser2727=)
n.2110T>C
c.8310T>C (p.Ser2770=)
2g.73490266T>GCA427001465ALMS1c.7926T>G (p.Ser2642=)
c.1318T>G
c.5378T>G
c.2373T>G (p.Ser791=)
c.8307T>G (p.Ser2769=)
c.896-29509T>G
c.3030+108T>G (n.3030+108T>G)
c.8181T>G (p.Ser2727=)
n.2110T>G
c.8310T>G (p.Ser2770=)
2g.73490267T>ACA347268198ALMS1c.7927T>A (p.Ser2643Thr)
c.1319T>A
c.5379T>A
c.2374T>A (p.Ser792Thr)
c.8308T>A (p.Ser2770Thr)
c.896-29508T>A
c.3030+109T>A (n.3030+109T>A)
c.8182T>A (p.Ser2728Thr)
n.2111T>A
c.8311T>A (p.Ser2771Thr)
2g.73490267T>CCA347268200ALMS1c.7927T>C (p.Ser2643Pro)
c.1319T>C
c.5379T>C
c.2374T>C (p.Ser792Pro)
c.8308T>C (p.Ser2770Pro)
c.896-29508T>C
c.3030+109T>C (n.3030+109T>C)
c.8182T>C (p.Ser2728Pro)
n.2111T>C
c.8311T>C (p.Ser2771Pro)
2g.73490267T>GCA347268202ALMS1c.7927T>G (p.Ser2643Ala)
c.1319T>G
c.5379T>G
c.2374T>G (p.Ser792Ala)
c.8308T>G (p.Ser2770Ala)
c.896-29508T>G
c.3030+109T>G (n.3030+109T>G)
c.8182T>G (p.Ser2728Ala)
n.2111T>G
c.8311T>G (p.Ser2771Ala)
2g.73490268C>ACA1714443ALMS1c.7928C>A (p.Ser2643Tyr)
c.1320C>A
c.5380C>A
c.2375C>A (p.Ser792Tyr)
c.8309C>A (p.Ser2770Tyr)
c.896-29507C>A
c.3030+110C>A (n.3030+110C>A)
c.8183C>A (p.Ser2728Tyr)
n.2112C>A
c.8312C>A (p.Ser2771Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490268C=CA1260981798ALMS1c.7928C= (p.Ser2643=)
c.1320C=
c.5380C=
c.2375C= (p.Ser792=)
c.8309C= (p.Ser2770=)
c.896-29507C=
c.3030+110C= (n.3030+110C=)
c.8183C= (p.Ser2728=)
n.2112C=
c.8312C= (p.Ser2771=)
2g.73490268C>GCA50378408ALMS1c.7928C>G (p.Ser2643Cys)
c.1320C>G
c.5380C>G
c.2375C>G (p.Ser792Cys)
c.8309C>G (p.Ser2770Cys)
c.896-29507C>G
c.3030+110C>G (n.3030+110C>G)
c.8183C>G (p.Ser2728Cys)
n.2112C>G
c.8312C>G (p.Ser2771Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73490268C>TCA347268206ALMS1c.7928C>T (p.Ser2643Phe)
c.1320C>T
c.5380C>T
c.2375C>T (p.Ser792Phe)
c.8309C>T (p.Ser2770Phe)
c.896-29507C>T
c.3030+110C>T (n.3030+110C>T)
c.8183C>T (p.Ser2728Phe)
n.2112C>T
c.8312C>T (p.Ser2771Phe)
 dbSNP
2g.73490271delCA2586969434ALMS1c.7931del (p.Pro2644LeufsTer15)
c.1323del
c.5383del
c.2378del (p.Pro793LeufsTer15)
c.8312del (p.Pro2771LeufsTer15)
c.896-29504del
c.3030+113del (n.3030+113del)
c.8186del (p.Pro2729LeufsTer15)
n.2115del
c.8315del (p.Pro2772LeufsTer15)
2g.73490269C>ACA427001480ALMS1c.7929C>A (p.Ser2643=)
c.1321C>A
c.5381C>A
c.2376C>A (p.Ser792=)
c.8310C>A (p.Ser2770=)
c.896-29506C>A
c.3030+111C>A (n.3030+111C>A)
c.8184C>A (p.Ser2728=)
n.2113C>A
c.8313C>A (p.Ser2771=)
2g.73490269C>GCA427001477ALMS1c.7929C>G (p.Ser2643=)
c.1321C>G
c.5381C>G
c.2376C>G (p.Ser792=)
c.8310C>G (p.Ser2770=)
c.896-29506C>G
c.3030+111C>G (n.3030+111C>G)
c.8184C>G (p.Ser2728=)
n.2113C>G
c.8313C>G (p.Ser2771=)
2g.73490269C>TCA427001479ALMS1c.7929C>T (p.Ser2643=)
c.1321C>T
c.5381C>T
c.2376C>T (p.Ser792=)
c.8310C>T (p.Ser2770=)
c.896-29506C>T
c.3030+111C>T (n.3030+111C>T)
c.8184C>T (p.Ser2728=)
n.2113C>T
c.8313C>T (p.Ser2771=)
 ClinVar dbSNP
2g.73490270C>ACA347268207ALMS1c.7930C>A (p.Pro2644Thr)
c.1322C>A
c.5382C>A
c.2377C>A (p.Pro793Thr)
c.8311C>A (p.Pro2771Thr)
c.896-29505C>A
c.3030+112C>A (n.3030+112C>A)
c.8185C>A (p.Pro2729Thr)
n.2114C>A
c.8314C>A (p.Pro2772Thr)
 ClinVar dbSNP gnomAD v4
2g.73490270C=CA1260981802ALMS1c.7930C= (p.Pro2644=)
c.1322C=
c.5382C=
c.2377C= (p.Pro793=)
c.8311C= (p.Pro2771=)
c.896-29505C=
c.3030+112C= (n.3030+112C=)
c.8185C= (p.Pro2729=)
n.2114C=
c.8314C= (p.Pro2772=)
2g.73490270C>GCA347268209ALMS1c.7930C>G (p.Pro2644Ala)
c.1322C>G
c.5382C>G
c.2377C>G (p.Pro793Ala)
c.8311C>G (p.Pro2771Ala)
c.896-29505C>G
c.3030+112C>G (n.3030+112C>G)
c.8185C>G (p.Pro2729Ala)
n.2114C>G
c.8314C>G (p.Pro2772Ala)
2g.73490270C>TCA347268210ALMS1c.7930C>T (p.Pro2644Ser)
c.1322C>T
c.5382C>T
c.2377C>T (p.Pro793Ser)
c.8311C>T (p.Pro2771Ser)
c.896-29505C>T
c.3030+112C>T (n.3030+112C>T)
c.8185C>T (p.Pro2729Ser)
n.2114C>T
c.8314C>T (p.Pro2772Ser)
 dbSNP
2g.73490271C>ACA347268215ALMS1c.7931C>A (p.Pro2644His)
c.1323C>A
c.5383C>A
c.2378C>A (p.Pro793His)
c.8312C>A (p.Pro2771His)
c.896-29504C>A
c.3030+113C>A (n.3030+113C>A)
c.8186C>A (p.Pro2729His)
n.2115C>A
c.8315C>A (p.Pro2772His)
2g.73490271C>GCA347268213ALMS1c.7931C>G (p.Pro2644Arg)
c.1323C>G
c.5383C>G
c.2378C>G (p.Pro793Arg)
c.8312C>G (p.Pro2771Arg)
c.896-29504C>G
c.3030+113C>G (n.3030+113C>G)
c.8186C>G (p.Pro2729Arg)
n.2115C>G
c.8315C>G (p.Pro2772Arg)
2g.73490271C>TCA347268211ALMS1c.7931C>T (p.Pro2644Leu)
c.1323C>T
c.5383C>T
c.2378C>T (p.Pro793Leu)
c.8312C>T (p.Pro2771Leu)
c.896-29504C>T
c.3030+113C>T (n.3030+113C>T)
c.8186C>T (p.Pro2729Leu)
n.2115C>T
c.8315C>T (p.Pro2772Leu)
2g.73490272T>ACA427001488ALMS1c.7932T>A (p.Pro2644=)
c.1324T>A
c.5384T>A
c.2379T>A (p.Pro793=)
c.8313T>A (p.Pro2771=)
c.896-29503T>A
c.3030+114T>A (n.3030+114T>A)
c.8187T>A (p.Pro2729=)
n.2116T>A
c.8316T>A (p.Pro2772=)
2g.73490272T>CCA427001490ALMS1c.7932T>C (p.Pro2644=)
c.1324T>C
c.5384T>C
c.2379T>C (p.Pro793=)
c.8313T>C (p.Pro2771=)
c.896-29503T>C
c.3030+114T>C (n.3030+114T>C)
c.8187T>C (p.Pro2729=)
n.2116T>C
c.8316T>C (p.Pro2772=)
 dbSNP gnomAD v2 gnomAD v4
2g.73490272T>GCA427001492ALMS1c.7932T>G (p.Pro2644=)
c.1324T>G
c.5384T>G
c.2379T>G (p.Pro793=)
c.8313T>G (p.Pro2771=)
c.896-29503T>G
c.3030+114T>G (n.3030+114T>G)
c.8187T>G (p.Pro2729=)
n.2116T>G
c.8316T>G (p.Pro2772=)
2g.73490272T=CA1260981808ALMS1c.7932T= (p.Pro2644=)
c.1324T=
c.5384T=
c.2379T= (p.Pro793=)
c.8313T= (p.Pro2771=)
c.896-29503T=
c.3030+114T= (n.3030+114T=)
c.8187T= (p.Pro2729=)
n.2116T=
c.8316T= (p.Pro2772=)
2g.73490272_73490275delinsTTCACA1260981806ALMS1c.7932_7935delinsTTCA (p.Pro2644=)
c.1324_1327delinsTTCA
c.5384_5387delinsTTCA
c.2379_2382delinsTTCA (p.Pro793=)
c.8313_8316delinsTTCA (p.Pro2771=)
c.896-29503_896-29500delinsTTCA
c.3030+114_3030+117delinsTTCA (n.3030+114_3030+117delinsTTCA)
c.8187_8190delinsTTCA (p.Pro2729=)
n.2116_2119delinsTTCA
c.8316_8319delinsTTCA (p.Pro2772=)
2g.73490273_73490276delCA913090807ALMS1c.7933_7936del (p.Ser2645HisfsTer13)
c.1325_1328del
c.5385_5388del
c.2380_2383del (p.Ser794HisfsTer13)
c.8314_8317del (p.Ser2772HisfsTer13)
c.896-29502_896-29499del
c.3030+115_3030+118del (n.3030+115_3030+118del)
c.8188_8191del (p.Ser2730HisfsTer13)
n.2117_2120del
c.8317_8320del (p.Ser2773HisfsTer13)
2g.73490273T>ACA347268217ALMS1c.7933T>A (p.Ser2645Thr)
c.1325T>A
c.5385T>A
c.2380T>A (p.Ser794Thr)
c.8314T>A (p.Ser2772Thr)
c.896-29502T>A
c.3030+115T>A (n.3030+115T>A)
c.8188T>A (p.Ser2730Thr)
n.2117T>A
c.8317T>A (p.Ser2773Thr)
2g.73490273T>CCA347268218ALMS1c.7933T>C (p.Ser2645Pro)
c.1325T>C
c.5385T>C
c.2380T>C (p.Ser794Pro)
c.8314T>C (p.Ser2772Pro)
c.896-29502T>C
c.3030+115T>C (n.3030+115T>C)
c.8188T>C (p.Ser2730Pro)
n.2117T>C
c.8317T>C (p.Ser2773Pro)
2g.73490273T>GCA347268221ALMS1c.7933T>G (p.Ser2645Ala)
c.1325T>G
c.5385T>G
c.2380T>G (p.Ser794Ala)
c.8314T>G (p.Ser2772Ala)
c.896-29502T>G
c.3030+115T>G (n.3030+115T>G)
c.8188T>G (p.Ser2730Ala)
n.2117T>G
c.8317T>G (p.Ser2773Ala)
2g.73490277_73490279delCA1714444ALMS1c.7937_7939del (p.Ser2646del)
c.1329_1331del
c.5389_5391del
c.2384_2386del (p.Ser795del)
c.8318_8320del (p.Ser2773del)
c.896-29498_896-29496del
c.3030+119_3030+121del (n.3030+119_3030+121del)
c.8192_8194del (p.Ser2731del)
n.2121_2123del
c.8321_8323del (p.Ser2774del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490274C>ACA347268222ALMS1c.7934C>A (p.Ser2645Ter)
c.1326C>A
c.5386C>A
c.2381C>A (p.Ser794Ter)
c.8315C>A (p.Ser2772Ter)
c.896-29501C>A
c.3030+116C>A (n.3030+116C>A)
c.8189C>A (p.Ser2730Ter)
n.2118C>A
c.8318C>A (p.Ser2773Ter)
2g.73490274C>GCA347268223ALMS1c.7934C>G (p.Ser2645Ter)
c.1326C>G
c.5386C>G
c.2381C>G (p.Ser794Ter)
c.8315C>G (p.Ser2772Ter)
c.896-29501C>G
c.3030+116C>G (n.3030+116C>G)
c.8189C>G (p.Ser2730Ter)
n.2118C>G
c.8318C>G (p.Ser2773Ter)
2g.73490274C>TCA347268224ALMS1c.7934C>T (p.Ser2645Leu)
c.1326C>T
c.5386C>T
c.2381C>T (p.Ser794Leu)
c.8315C>T (p.Ser2772Leu)
c.896-29501C>T
c.3030+116C>T (n.3030+116C>T)
c.8189C>T (p.Ser2730Leu)
n.2118C>T
c.8318C>T (p.Ser2773Leu)
 gnomAD v4
2g.73490275A=CA1260981809ALMS1c.7935A= (p.Ser2645=)
c.1327A=
c.5387A=
c.2382A= (p.Ser794=)
c.8316A= (p.Ser2772=)
c.896-29500A=
c.3030+117A= (n.3030+117A=)
c.8190A= (p.Ser2730=)
n.2119A=
c.8319A= (p.Ser2773=)
2g.73490275A>CCA50378422ALMS1c.7935A>C (p.Ser2645=)
c.1327A>C
c.5387A>C
c.2382A>C (p.Ser794=)
c.8316A>C (p.Ser2772=)
c.896-29500A>C
c.3030+117A>C (n.3030+117A>C)
c.8190A>C (p.Ser2730=)
n.2119A>C
c.8319A>C (p.Ser2773=)
 dbSNP gnomAD v4
2g.73490275A>GCA427001502ALMS1c.7935A>G (p.Ser2645=)
c.1327A>G
c.5387A>G
c.2382A>G (p.Ser794=)
c.8316A>G (p.Ser2772=)
c.896-29500A>G
c.3030+117A>G (n.3030+117A>G)
c.8190A>G (p.Ser2730=)
n.2119A>G
c.8319A>G (p.Ser2773=)
 ClinVar
2g.73490275A>TCA1714445ALMS1c.7935A>T (p.Ser2645=)
c.1327A>T
c.5387A>T
c.2382A>T (p.Ser794=)
c.8316A>T (p.Ser2772=)
c.896-29500A>T
c.3030+117A>T (n.3030+117A>T)
c.8190A>T (p.Ser2730=)
n.2119A>T
c.8319A>T (p.Ser2773=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490276T>ACA347268226ALMS1c.7936T>A (p.Ser2646Thr)
c.1328T>A
c.5388T>A
c.2383T>A (p.Ser795Thr)
c.8317T>A (p.Ser2773Thr)
c.896-29499T>A
c.3030+118T>A (n.3030+118T>A)
c.8191T>A (p.Ser2731Thr)
n.2120T>A
c.8320T>A (p.Ser2774Thr)
2g.73490276T>CCA347268228ALMS1c.7936T>C (p.Ser2646Pro)
c.1328T>C
c.5388T>C
c.2383T>C (p.Ser795Pro)
c.8317T>C (p.Ser2773Pro)
c.896-29499T>C
c.3030+118T>C (n.3030+118T>C)
c.8191T>C (p.Ser2731Pro)
n.2120T>C
c.8320T>C (p.Ser2774Pro)
2g.73490276T>GCA347268229ALMS1c.7936T>G (p.Ser2646Ala)
c.1328T>G
c.5388T>G
c.2383T>G (p.Ser795Ala)
c.8317T>G (p.Ser2773Ala)
c.896-29499T>G
c.3030+118T>G (n.3030+118T>G)
c.8191T>G (p.Ser2731Ala)
n.2120T>G
c.8320T>G (p.Ser2774Ala)
2g.73490277C>ACA347268231ALMS1c.7937C>A (p.Ser2646Ter)
c.1329C>A
c.5389C>A
c.2384C>A (p.Ser795Ter)
c.8318C>A (p.Ser2773Ter)
c.896-29498C>A
c.3030+119C>A (n.3030+119C>A)
c.8192C>A (p.Ser2731Ter)
n.2121C>A
c.8321C>A (p.Ser2774Ter)
2g.73490277C>GCA347268233ALMS1c.7937C>G (p.Ser2646Ter)
c.1329C>G
c.5389C>G
c.2384C>G (p.Ser795Ter)
c.8318C>G (p.Ser2773Ter)
c.896-29498C>G
c.3030+119C>G (n.3030+119C>G)
c.8192C>G (p.Ser2731Ter)
n.2121C>G
c.8321C>G (p.Ser2774Ter)
2g.73490277C>TCA347268234ALMS1c.7937C>T (p.Ser2646Leu)
c.1329C>T
c.5389C>T
c.2384C>T (p.Ser795Leu)
c.8318C>T (p.Ser2773Leu)
c.896-29498C>T
c.3030+119C>T (n.3030+119C>T)
c.8192C>T (p.Ser2731Leu)
n.2121C>T
c.8321C>T (p.Ser2774Leu)
2g.73490278A=CA1260981810ALMS1c.7938A= (p.Ser2646=)
c.1330A=
c.5390A=
c.2385A= (p.Ser795=)
c.8319A= (p.Ser2773=)
c.896-29497A=
c.3030+120A= (n.3030+120A=)
c.8193A= (p.Ser2731=)
n.2122A=
c.8322A= (p.Ser2774=)
2g.73490278A>CCA427001506ALMS1c.7938A>C (p.Ser2646=)
c.1330A>C
c.5390A>C
c.2385A>C (p.Ser795=)
c.8319A>C (p.Ser2773=)
c.896-29497A>C
c.3030+120A>C (n.3030+120A>C)
c.8193A>C (p.Ser2731=)
n.2122A>C
c.8322A>C (p.Ser2774=)
2g.73490278A>GCA1714446ALMS1c.7938A>G (p.Ser2646=)
c.1330A>G
c.5390A>G
c.2385A>G (p.Ser795=)
c.8319A>G (p.Ser2773=)
c.896-29497A>G
c.3030+120A>G (n.3030+120A>G)
c.8193A>G (p.Ser2731=)
n.2122A>G
c.8322A>G (p.Ser2774=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490278A>TCA427001509ALMS1c.7938A>T (p.Ser2646=)
c.1330A>T
c.5390A>T
c.2385A>T (p.Ser795=)
c.8319A>T (p.Ser2773=)
c.896-29497A>T
c.3030+120A>T (n.3030+120A>T)
c.8193A>T (p.Ser2731=)
n.2122A>T
c.8322A>T (p.Ser2774=)
2g.73490279T>ACA347268237ALMS1c.7939T>A (p.Phe2647Ile)
c.1331T>A
c.5391T>A
c.2386T>A (p.Phe796Ile)
c.8320T>A (p.Phe2774Ile)
c.896-29496T>A
c.3030+121T>A (n.3030+121T>A)
c.8194T>A (p.Phe2732Ile)
n.2123T>A
c.8323T>A (p.Phe2775Ile)
2g.73490279T>CCA347268239ALMS1c.7939T>C (p.Phe2647Leu)
c.1331T>C
c.5391T>C
c.2386T>C (p.Phe796Leu)
c.8320T>C (p.Phe2774Leu)
c.896-29496T>C
c.3030+121T>C (n.3030+121T>C)
c.8194T>C (p.Phe2732Leu)
n.2123T>C
c.8323T>C (p.Phe2775Leu)
2g.73490279T>GCA347268240ALMS1c.7939T>G (p.Phe2647Val)
c.1331T>G
c.5391T>G
c.2386T>G (p.Phe796Val)
c.8320T>G (p.Phe2774Val)
c.896-29496T>G
c.3030+121T>G (n.3030+121T>G)
c.8194T>G (p.Phe2732Val)
n.2123T>G
c.8323T>G (p.Phe2775Val)
2g.73490280T>ACA347268241ALMS1c.7940T>A (p.Phe2647Tyr)
c.1332T>A
c.5392T>A
c.2387T>A (p.Phe796Tyr)
c.8321T>A (p.Phe2774Tyr)
c.896-29495T>A
c.3030+122T>A (n.3030+122T>A)
c.8195T>A (p.Phe2732Tyr)
n.2124T>A
c.8324T>A (p.Phe2775Tyr)
2g.73490280T>CCA347268242ALMS1c.7940T>C (p.Phe2647Ser)
c.1332T>C
c.5392T>C
c.2387T>C (p.Phe796Ser)
c.8321T>C (p.Phe2774Ser)
c.896-29495T>C
c.3030+122T>C (n.3030+122T>C)
c.8195T>C (p.Phe2732Ser)
n.2124T>C
c.8324T>C (p.Phe2775Ser)
2g.73490280T>GCA1714447ALMS1c.7940T>G (p.Phe2647Cys)
c.1332T>G
c.5392T>G
c.2387T>G (p.Phe796Cys)
c.8321T>G (p.Phe2774Cys)
c.896-29495T>G
c.3030+122T>G (n.3030+122T>G)
c.8195T>G (p.Phe2732Cys)
n.2124T>G
c.8324T>G (p.Phe2775Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490280T=CA1260981811ALMS1c.7940T= (p.Phe2647=)
c.1332T=
c.5392T=
c.2387T= (p.Phe796=)
c.8321T= (p.Phe2774=)
c.896-29495T=
c.3030+122T= (n.3030+122T=)
c.8195T= (p.Phe2732=)
n.2124T=
c.8324T= (p.Phe2775=)
2g.73490281T>ACA347268244ALMS1c.7941T>A (p.Phe2647Leu)
c.1333T>A
c.5393T>A
c.2388T>A (p.Phe796Leu)
c.8322T>A (p.Phe2774Leu)
c.896-29494T>A
c.3030+123T>A (n.3030+123T>A)
c.8196T>A (p.Phe2732Leu)
n.2125T>A
c.8325T>A (p.Phe2775Leu)
2g.73490281T>CCA427001519ALMS1c.7941T>C (p.Phe2647=)
c.1333T>C
c.5393T>C
c.2388T>C (p.Phe796=)
c.8322T>C (p.Phe2774=)
c.896-29494T>C
c.3030+123T>C (n.3030+123T>C)
c.8196T>C (p.Phe2732=)
n.2125T>C
c.8325T>C (p.Phe2775=)
2g.73490281T>GCA347268245ALMS1c.7941T>G (p.Phe2647Leu)
c.1333T>G
c.5393T>G
c.2388T>G (p.Phe796Leu)
c.8322T>G (p.Phe2774Leu)
c.896-29494T>G
c.3030+123T>G (n.3030+123T>G)
c.8196T>G (p.Phe2732Leu)
n.2125T>G
c.8325T>G (p.Phe2775Leu)
2g.73490282A=CA1260981812ALMS1c.7942A= (p.Lys2648=)
c.1334A=
c.5394A=
c.2389A= (p.Lys797=)
c.8323A= (p.Lys2775=)
c.896-29493A=
c.3030+124A= (n.3030+124A=)
c.8197A= (p.Lys2733=)
n.2126A=
c.8326A= (p.Lys2776=)
2g.73490282A>CCA347268246ALMS1c.7942A>C (p.Lys2648Gln)
c.1334A>C
c.5394A>C
c.2389A>C (p.Lys797Gln)
c.8323A>C (p.Lys2775Gln)
c.896-29493A>C
c.3030+124A>C (n.3030+124A>C)
c.8197A>C (p.Lys2733Gln)
n.2126A>C
c.8326A>C (p.Lys2776Gln)
2g.73490282A>GCA347268247ALMS1c.7942A>G (p.Lys2648Glu)
c.1334A>G
c.5394A>G
c.2389A>G (p.Lys797Glu)
c.8323A>G (p.Lys2775Glu)
c.896-29493A>G
c.3030+124A>G (n.3030+124A>G)
c.8197A>G (p.Lys2733Glu)
n.2126A>G
c.8326A>G (p.Lys2776Glu)
 ClinVar dbSNP gnomAD v4
2g.73490282A>TCA347268249ALMS1c.7942A>T (p.Lys2648Ter)
c.1334A>T
c.5394A>T
c.2389A>T (p.Lys797Ter)
c.8323A>T (p.Lys2775Ter)
c.896-29493A>T
c.3030+124A>T (n.3030+124A>T)
c.8197A>T (p.Lys2733Ter)
n.2126A>T
c.8326A>T (p.Lys2776Ter)
2g.73490283A>CCA347268250ALMS1c.7943A>C (p.Lys2648Thr)
c.1335A>C
c.5395A>C
c.2390A>C (p.Lys797Thr)
c.8324A>C (p.Lys2775Thr)
c.896-29492A>C
c.3030+125A>C (n.3030+125A>C)
c.8198A>C (p.Lys2733Thr)
n.2127A>C
c.8327A>C (p.Lys2776Thr)
2g.73490283A>GCA347268252ALMS1c.7943A>G (p.Lys2648Arg)
c.1335A>G
c.5395A>G
c.2390A>G (p.Lys797Arg)
c.8324A>G (p.Lys2775Arg)
c.896-29492A>G
c.3030+125A>G (n.3030+125A>G)
c.8198A>G (p.Lys2733Arg)
n.2127A>G
c.8327A>G (p.Lys2776Arg)
 ClinVar
2g.73490283A>TCA347268253ALMS1c.7943A>T (p.Lys2648Ile)
c.1335A>T
c.5395A>T
c.2390A>T (p.Lys797Ile)
c.8324A>T (p.Lys2775Ile)
c.896-29492A>T
c.3030+125A>T (n.3030+125A>T)
c.8198A>T (p.Lys2733Ile)
n.2127A>T
c.8327A>T (p.Lys2776Ile)
2g.73490284A>CCA347268254ALMS1c.7944A>C (p.Lys2648Asn)
c.1336A>C
c.5396A>C
c.2391A>C (p.Lys797Asn)
c.8325A>C (p.Lys2775Asn)
c.896-29491A>C
c.3030+126A>C (n.3030+126A>C)
c.8199A>C (p.Lys2733Asn)
n.2128A>C
c.8328A>C (p.Lys2776Asn)
2g.73490284A>GCA427001528ALMS1c.7944A>G (p.Lys2648=)
c.1336A>G
c.5396A>G
c.2391A>G (p.Lys797=)
c.8325A>G (p.Lys2775=)
c.896-29491A>G
c.3030+126A>G (n.3030+126A>G)
c.8199A>G (p.Lys2733=)
n.2128A>G
c.8328A>G (p.Lys2776=)
2g.73490284A>TCA347268255ALMS1c.7944A>T (p.Lys2648Asn)
c.1336A>T
c.5396A>T
c.2391A>T (p.Lys797Asn)
c.8325A>T (p.Lys2775Asn)
c.896-29491A>T
c.3030+126A>T (n.3030+126A>T)
c.8199A>T (p.Lys2733Asn)
n.2128A>T
c.8328A>T (p.Lys2776Asn)
2g.73490285A>CCA347268258ALMS1c.7945A>C (p.Met2649Leu)
c.1337A>C
c.5397A>C
c.2392A>C (p.Met798Leu)
c.8326A>C (p.Met2776Leu)
c.896-29490A>C
c.3030+127A>C (n.3030+127A>C)
c.8200A>C (p.Met2734Leu)
n.2129A>C
c.8329A>C (p.Met2777Leu)
2g.73490285A>GCA347268261ALMS1c.7945A>G (p.Met2649Val)
c.1337A>G
c.5397A>G
c.2392A>G (p.Met798Val)
c.8326A>G (p.Met2776Val)
c.896-29490A>G
c.3030+127A>G (n.3030+127A>G)
c.8200A>G (p.Met2734Val)
n.2129A>G
c.8329A>G (p.Met2777Val)
2g.73490285A>TCA347268259ALMS1c.7945A>T (p.Met2649Leu)
c.1337A>T
c.5397A>T
c.2392A>T (p.Met798Leu)
c.8326A>T (p.Met2776Leu)
c.896-29490A>T
c.3030+127A>T (n.3030+127A>T)
c.8200A>T (p.Met2734Leu)
n.2129A>T
c.8329A>T (p.Met2777Leu)
 gnomAD v4
2g.73490286T>ACA347268262ALMS1c.7946T>A (p.Met2649Lys)
c.1338T>A
c.5398T>A
c.2393T>A (p.Met798Lys)
c.8327T>A (p.Met2776Lys)
c.896-29489T>A
c.3030+128T>A (n.3030+128T>A)
c.8201T>A (p.Met2734Lys)
n.2130T>A
c.8330T>A (p.Met2777Lys)
2g.73490286T>CCA347268264ALMS1c.7946T>C (p.Met2649Thr)
c.1338T>C
c.5398T>C
c.2393T>C (p.Met798Thr)
c.8327T>C (p.Met2776Thr)
c.896-29489T>C
c.3030+128T>C (n.3030+128T>C)
c.8201T>C (p.Met2734Thr)
n.2130T>C
c.8330T>C (p.Met2777Thr)
2g.73490286T>GCA347268265ALMS1c.7946T>G (p.Met2649Arg)
c.1338T>G
c.5398T>G
c.2393T>G (p.Met798Arg)
c.8327T>G (p.Met2776Arg)
c.896-29489T>G
c.3030+128T>G (n.3030+128T>G)
c.8201T>G (p.Met2734Arg)
n.2130T>G
c.8330T>G (p.Met2777Arg)
2g.73490286_73490330delCA2505291245ALMS1c.7946_7990del (p.Met2649_Gly2664delinsSer)
c.1338_1382del
c.5398_5442del
c.2393_2437del (p.Met798_Gly813delinsSer)
c.8327_8371del (p.Met2776_Gly2791delinsSer)
c.896-29489_896-29445del
c.3030+128_3030+172del (n.3030+128_3030+172del)
c.8201_8245del (p.Met2734_Gly2749delinsSer)
n.2130_2174del
c.8330_8374del (p.Met2777_Gly2792delinsSer)
2g.73490287G>ACA1714448ALMS1c.7947G>A (p.Met2649Ile)
c.1339G>A
c.5399G>A
c.2394G>A (p.Met798Ile)
c.8328G>A (p.Met2776Ile)
c.896-29488G>A
c.3030+129G>A (n.3030+129G>A)
c.8202G>A (p.Met2734Ile)
n.2131G>A
c.8331G>A (p.Met2777Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490287G>CCA347268267ALMS1c.7947G>C (p.Met2649Ile)
c.1339G>C
c.5399G>C
c.2394G>C (p.Met798Ile)
c.8328G>C (p.Met2776Ile)
c.896-29488G>C
c.3030+129G>C (n.3030+129G>C)
c.8202G>C (p.Met2734Ile)
n.2131G>C
c.8331G>C (p.Met2777Ile)
2g.73490287G=CA1260981813ALMS1c.7947G= (p.Met2649=)
c.1339G=
c.5399G=
c.2394G= (p.Met798=)
c.8328G= (p.Met2776=)
c.896-29488G=
c.3030+129G= (n.3030+129G=)
c.8202G= (p.Met2734=)
n.2131G=
c.8331G= (p.Met2777=)
2g.73490287G>TCA347268268ALMS1c.7947G>T (p.Met2649Ile)
c.1339G>T
c.5399G>T
c.2394G>T (p.Met798Ile)
c.8328G>T (p.Met2776Ile)
c.896-29488G>T
c.3030+129G>T (n.3030+129G>T)
c.8202G>T (p.Met2734Ile)
n.2131G>T
c.8331G>T (p.Met2777Ile)
2g.73490288C>ACA347268273ALMS1c.7948C>A (p.His2650Asn)
c.1340C>A
c.5400C>A
c.2395C>A (p.His799Asn)
c.8329C>A (p.His2777Asn)
c.896-29487C>A
c.3030+130C>A (n.3030+130C>A)
c.8203C>A (p.His2735Asn)
n.2132C>A
c.8332C>A (p.His2778Asn)
2g.73490288C=CA1260981814ALMS1c.7948C= (p.His2650=)
c.1340C=
c.5400C=
c.2395C= (p.His799=)
c.8329C= (p.His2777=)
c.896-29487C=
c.3030+130C= (n.3030+130C=)
c.8203C= (p.His2735=)
n.2132C=
c.8332C= (p.His2778=)
2g.73490288C>GCA347268270ALMS1c.7948C>G (p.His2650Asp)
c.1340C>G
c.5400C>G
c.2395C>G (p.His799Asp)
c.8329C>G (p.His2777Asp)
c.896-29487C>G
c.3030+130C>G (n.3030+130C>G)
c.8203C>G (p.His2735Asp)
n.2132C>G
c.8332C>G (p.His2778Asp)
2g.73490288C>TCA347268272ALMS1c.7948C>T (p.His2650Tyr)
c.1340C>T
c.5400C>T
c.2395C>T (p.His799Tyr)
c.8329C>T (p.His2777Tyr)
c.896-29487C>T
c.3030+130C>T (n.3030+130C>T)
c.8203C>T (p.His2735Tyr)
n.2132C>T
c.8332C>T (p.His2778Tyr)
 dbSNP
2g.73490289A=CA1260981816ALMS1c.7949A= (p.His2650=)
c.1341A=
c.5401A=
c.2396A= (p.His799=)
c.8330A= (p.His2777=)
c.896-29486A=
c.3030+131A= (n.3030+131A=)
c.8204A= (p.His2735=)
n.2133A=
c.8333A= (p.His2778=)
2g.73490289A>CCA1714449ALMS1c.7949A>C (p.His2650Pro)
c.1341A>C
c.5401A>C
c.2396A>C (p.His799Pro)
c.8330A>C (p.His2777Pro)
c.896-29486A>C
c.3030+131A>C (n.3030+131A>C)
c.8204A>C (p.His2735Pro)
n.2133A>C
c.8333A>C (p.His2778Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490289A>GCA347268275ALMS1c.7949A>G (p.His2650Arg)
c.1341A>G
c.5401A>G
c.2396A>G (p.His799Arg)
c.8330A>G (p.His2777Arg)
c.896-29486A>G
c.3030+131A>G (n.3030+131A>G)
c.8204A>G (p.His2735Arg)
n.2133A>G
c.8333A>G (p.His2778Arg)
 gnomAD v4
2g.73490289A>TCA1714450ALMS1c.7949A>T (p.His2650Leu)
c.1341A>T
c.5401A>T
c.2396A>T (p.His799Leu)
c.8330A>T (p.His2777Leu)
c.896-29486A>T
c.3030+131A>T (n.3030+131A>T)
c.8204A>T (p.His2735Leu)
n.2133A>T
c.8333A>T (p.His2778Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490290T>ACA347268279ALMS1c.7950T>A (p.His2650Gln)
c.1342T>A
c.5402T>A
c.2397T>A (p.His799Gln)
c.8331T>A (p.His2777Gln)
c.896-29485T>A
c.3030+132T>A (n.3030+132T>A)
c.8205T>A (p.His2735Gln)
n.2134T>A
c.8334T>A (p.His2778Gln)
2g.73490290T>CCA427001546ALMS1c.7950T>C (p.His2650=)
c.1342T>C
c.5402T>C
c.2397T>C (p.His799=)
c.8331T>C (p.His2777=)
c.896-29485T>C
c.3030+132T>C (n.3030+132T>C)
c.8205T>C (p.His2735=)
n.2134T>C
c.8334T>C (p.His2778=)
 gnomAD v4
2g.73490290T>GCA347268281ALMS1c.7950T>G (p.His2650Gln)
c.1342T>G
c.5402T>G
c.2397T>G (p.His799Gln)
c.8331T>G (p.His2777Gln)
c.896-29485T>G
c.3030+132T>G (n.3030+132T>G)
c.8205T>G (p.His2735Gln)
n.2134T>G
c.8334T>G (p.His2778Gln)
2g.73490291A=CA1260981820ALMS1c.7951A= (p.Ser2651=)
c.1343A=
c.5403A=
c.2398A= (p.Ser800=)
c.8332A= (p.Ser2778=)
c.896-29484A=
c.3030+133A= (n.3030+133A=)
c.8206A= (p.Ser2736=)
n.2135A=
c.8335A= (p.Ser2779=)
2g.73490291A>CCA347268289ALMS1c.7951A>C (p.Ser2651Arg)
c.1343A>C
c.5403A>C
c.2398A>C (p.Ser800Arg)
c.8332A>C (p.Ser2778Arg)
c.896-29484A>C
c.3030+133A>C (n.3030+133A>C)
c.8206A>C (p.Ser2736Arg)
n.2135A>C
c.8335A>C (p.Ser2779Arg)
2g.73490291A>GCA347268284ALMS1c.7951A>G (p.Ser2651Gly)
c.1343A>G
c.5403A>G
c.2398A>G (p.Ser800Gly)
c.8332A>G (p.Ser2778Gly)
c.896-29484A>G
c.3030+133A>G (n.3030+133A>G)
c.8206A>G (p.Ser2736Gly)
n.2135A>G
c.8335A>G (p.Ser2779Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.73490291A>TCA347268287ALMS1c.7951A>T (p.Ser2651Cys)
c.1343A>T
c.5403A>T
c.2398A>T (p.Ser800Cys)
c.8332A>T (p.Ser2778Cys)
c.896-29484A>T
c.3030+133A>T (n.3030+133A>T)
c.8206A>T (p.Ser2736Cys)
n.2135A>T
c.8335A>T (p.Ser2779Cys)
 gnomAD v4
2g.73490292G>ACA347268292ALMS1c.7952G>A (p.Ser2651Asn)
c.1344G>A
c.5404G>A
c.2399G>A (p.Ser800Asn)
c.8333G>A (p.Ser2778Asn)
c.896-29483G>A
c.3030+134G>A (n.3030+134G>A)
c.8207G>A (p.Ser2736Asn)
n.2136G>A
c.8336G>A (p.Ser2779Asn)
2g.73490292G>CCA347268294ALMS1c.7952G>C (p.Ser2651Thr)
c.1344G>C
c.5404G>C
c.2399G>C (p.Ser800Thr)
c.8333G>C (p.Ser2778Thr)
c.896-29483G>C
c.3030+134G>C (n.3030+134G>C)
c.8207G>C (p.Ser2736Thr)
n.2136G>C
c.8336G>C (p.Ser2779Thr)
2g.73490292G>TCA347268296ALMS1c.7952G>T (p.Ser2651Ile)
c.1344G>T
c.5404G>T
c.2399G>T (p.Ser800Ile)
c.8333G>T (p.Ser2778Ile)
c.896-29483G>T
c.3030+134G>T (n.3030+134G>T)
c.8207G>T (p.Ser2736Ile)
n.2136G>T
c.8336G>T (p.Ser2779Ile)
2g.73490293delCA2659619923ALMS1c.7953del (p.Ser2651ArgfsTer8)
c.1345del
c.5405del
c.2400del (p.Ser800ArgfsTer8)
c.8334del (p.Ser2778ArgfsTer8)
c.896-29482del
c.3030+135del (n.3030+135del)
c.8208del (p.Ser2736ArgfsTer8)
n.2137del
c.8337del (p.Ser2779ArgfsTer8)
 gnomAD v4
2g.73490293T>ACA347268298ALMS1c.7953T>A (p.Ser2651Arg)
c.1345T>A
c.5405T>A
c.2400T>A (p.Ser800Arg)
c.8334T>A (p.Ser2778Arg)
c.896-29482T>A
c.3030+135T>A (n.3030+135T>A)
c.8208T>A (p.Ser2736Arg)
n.2137T>A
c.8337T>A (p.Ser2779Arg)
2g.73490293T>CCA427001552ALMS1c.7953T>C (p.Ser2651=)
c.1345T>C
c.5405T>C
c.2400T>C (p.Ser800=)
c.8334T>C (p.Ser2778=)
c.896-29482T>C
c.3030+135T>C (n.3030+135T>C)
c.8208T>C (p.Ser2736=)
n.2137T>C
c.8337T>C (p.Ser2779=)
2g.73490293T>GCA347268300ALMS1c.7953T>G (p.Ser2651Arg)
c.1345T>G
c.5405T>G
c.2400T>G (p.Ser800Arg)
c.8334T>G (p.Ser2778Arg)
c.896-29482T>G
c.3030+135T>G (n.3030+135T>G)
c.8208T>G (p.Ser2736Arg)
n.2137T>G
c.8337T>G (p.Ser2779Arg)
2g.73490294A=CA1260981822ALMS1c.7954A= (p.Asn2652=)
c.1346A=
c.5406A=
c.2401A= (p.Asn801=)
c.8335A= (p.Asn2779=)
c.896-29481A=
c.3030+136A= (n.3030+136A=)
c.8209A= (p.Asn2737=)
n.2138A=
c.8338A= (p.Asn2780=)
2g.73490294A>CCA347268301ALMS1c.7954A>C (p.Asn2652His)
c.1346A>C
c.5406A>C
c.2401A>C (p.Asn801His)
c.8335A>C (p.Asn2779His)
c.896-29481A>C
c.3030+136A>C (n.3030+136A>C)
c.8209A>C (p.Asn2737His)
n.2138A>C
c.8338A>C (p.Asn2780His)
2g.73490294A>GCA347268304ALMS1c.7954A>G (p.Asn2652Asp)
c.1346A>G
c.5406A>G
c.2401A>G (p.Asn801Asp)
c.8335A>G (p.Asn2779Asp)
c.896-29481A>G
c.3030+136A>G (n.3030+136A>G)
c.8209A>G (p.Asn2737Asp)
n.2138A>G
c.8338A>G (p.Asn2780Asp)
 ClinVar dbSNP gnomAD v4
2g.73490294A>TCA347268307ALMS1c.7954A>T (p.Asn2652Tyr)
c.1346A>T
c.5406A>T
c.2401A>T (p.Asn801Tyr)
c.8335A>T (p.Asn2779Tyr)
c.896-29481A>T
c.3030+136A>T (n.3030+136A>T)
c.8209A>T (p.Asn2737Tyr)
n.2138A>T
c.8338A>T (p.Asn2780Tyr)
 gnomAD v4
2g.73490295A=CA1260981826ALMS1c.7955A= (p.Asn2652=)
c.1347A=
c.5407A=
c.2402A= (p.Asn801=)
c.8336A= (p.Asn2779=)
c.896-29480A=
c.3030+137A= (n.3030+137A=)
c.8210A= (p.Asn2737=)
n.2139A=
c.8339A= (p.Asn2780=)
2g.73490295A>CCA347268310ALMS1c.7955A>C (p.Asn2652Thr)
c.1347A>C
c.5407A>C
c.2402A>C (p.Asn801Thr)
c.8336A>C (p.Asn2779Thr)
c.896-29480A>C
c.3030+137A>C (n.3030+137A>C)
c.8210A>C (p.Asn2737Thr)
n.2139A>C
c.8339A>C (p.Asn2780Thr)
2g.73490295A>GCA347268311ALMS1c.7955A>G (p.Asn2652Ser)
c.1347A>G
c.5407A>G
c.2402A>G (p.Asn801Ser)
c.8336A>G (p.Asn2779Ser)
c.896-29480A>G
c.3030+137A>G (n.3030+137A>G)
c.8210A>G (p.Asn2737Ser)
n.2139A>G
c.8339A>G (p.Asn2780Ser)
 gnomAD v4
2g.73490295A>TCA1714451ALMS1c.7955A>T (p.Asn2652Ile)
c.1347A>T
c.5407A>T
c.2402A>T (p.Asn801Ile)
c.8336A>T (p.Asn2779Ile)
c.896-29480A>T
c.3030+137A>T (n.3030+137A>T)
c.8210A>T (p.Asn2737Ile)
n.2139A>T
c.8339A>T (p.Asn2780Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490296T>ACA347268314ALMS1c.7956T>A (p.Asn2652Lys)
c.1348T>A
c.5408T>A
c.2403T>A (p.Asn801Lys)
c.8337T>A (p.Asn2779Lys)
c.896-29479T>A
c.3030+138T>A (n.3030+138T>A)
c.8211T>A (p.Asn2737Lys)
n.2140T>A
c.8340T>A (p.Asn2780Lys)
2g.73490296T>CCA427001562ALMS1c.7956T>C (p.Asn2652=)
c.1348T>C
c.5408T>C
c.2403T>C (p.Asn801=)
c.8337T>C (p.Asn2779=)
c.896-29479T>C
c.3030+138T>C (n.3030+138T>C)
c.8211T>C (p.Asn2737=)
n.2140T>C
c.8340T>C (p.Asn2780=)
2g.73490296T>GCA347268316ALMS1c.7956T>G (p.Asn2652Lys)
c.1348T>G
c.5408T>G
c.2403T>G (p.Asn801Lys)
c.8337T>G (p.Asn2779Lys)
c.896-29479T>G
c.3030+138T>G (n.3030+138T>G)
c.8211T>G (p.Asn2737Lys)
n.2140T>G
c.8340T>G (p.Asn2780Lys)
2g.73490297T>ACA347268323ALMS1c.7957T>A (p.Ser2653Thr)
c.1349T>A
c.5409T>A
c.2404T>A (p.Ser802Thr)
c.8338T>A (p.Ser2780Thr)
c.896-29478T>A
c.3030+139T>A (n.3030+139T>A)
c.8212T>A (p.Ser2738Thr)
n.2141T>A
c.8341T>A (p.Ser2781Thr)
2g.73490297T>CCA347268318ALMS1c.7957T>C (p.Ser2653Pro)
c.1349T>C
c.5409T>C
c.2404T>C (p.Ser802Pro)
c.8338T>C (p.Ser2780Pro)
c.896-29478T>C
c.3030+139T>C (n.3030+139T>C)
c.8212T>C (p.Ser2738Pro)
n.2141T>C
c.8341T>C (p.Ser2781Pro)
2g.73490297T>GCA347268320ALMS1c.7957T>G (p.Ser2653Ala)
c.1349T>G
c.5409T>G
c.2404T>G (p.Ser802Ala)
c.8338T>G (p.Ser2780Ala)
c.896-29478T>G
c.3030+139T>G (n.3030+139T>G)
c.8212T>G (p.Ser2738Ala)
n.2141T>G
c.8341T>G (p.Ser2781Ala)
2g.73490298C>ACA347268325ALMS1c.7958C>A (p.Ser2653Ter)
c.1350C>A
c.5410C>A
c.2405C>A (p.Ser802Ter)
c.8339C>A (p.Ser2780Ter)
c.896-29477C>A
c.3030+140C>A (n.3030+140C>A)
c.8213C>A (p.Ser2738Ter)
n.2142C>A
c.8342C>A (p.Ser2781Ter)
2g.73490298C=CA1260981829ALMS1c.7958C= (p.Ser2653=)
c.1350C=
c.5410C=
c.2405C= (p.Ser802=)
c.8339C= (p.Ser2780=)
c.896-29477C=
c.3030+140C= (n.3030+140C=)
c.8213C= (p.Ser2738=)
n.2142C=
c.8342C= (p.Ser2781=)
2g.73490298C>GCA347268328ALMS1c.7958C>G (p.Ser2653Ter)
c.1350C>G
c.5410C>G
c.2405C>G (p.Ser802Ter)
c.8339C>G (p.Ser2780Ter)
c.896-29477C>G
c.3030+140C>G (n.3030+140C>G)
c.8213C>G (p.Ser2738Ter)
n.2142C>G
c.8342C>G (p.Ser2781Ter)
 gnomAD v4
2g.73490298C>TCA1714452ALMS1c.7958C>T (p.Ser2653Leu)
c.1350C>T
c.5410C>T
c.2405C>T (p.Ser802Leu)
c.8339C>T (p.Ser2780Leu)
c.896-29477C>T
c.3030+140C>T (n.3030+140C>T)
c.8213C>T (p.Ser2738Leu)
n.2142C>T
c.8342C>T (p.Ser2781Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490299A>CCA427001572ALMS1c.7959A>C (p.Ser2653=)
c.1351A>C
c.5411A>C
c.2406A>C (p.Ser802=)
c.8340A>C (p.Ser2780=)
c.896-29476A>C
c.3030+141A>C (n.3030+141A>C)
c.8214A>C (p.Ser2738=)
n.2143A>C
c.8343A>C (p.Ser2781=)
 ClinVar
2g.73490299A>GCA427001568ALMS1c.7959A>G (p.Ser2653=)
c.1351A>G
c.5411A>G
c.2406A>G (p.Ser802=)
c.8340A>G (p.Ser2780=)
c.896-29476A>G
c.3030+141A>G (n.3030+141A>G)
c.8214A>G (p.Ser2738=)
n.2143A>G
c.8343A>G (p.Ser2781=)
2g.73490299A>TCA427001570ALMS1c.7959A>T (p.Ser2653=)
c.1351A>T
c.5411A>T
c.2406A>T (p.Ser802=)
c.8340A>T (p.Ser2780=)
c.896-29476A>T
c.3030+141A>T (n.3030+141A>T)
c.8214A>T (p.Ser2738=)
n.2143A>T
c.8343A>T (p.Ser2781=)
2g.73490300C>ACA347268333ALMS1c.7960C>A (p.Gln2654Lys)
c.1352C>A
c.5412C>A
c.2407C>A (p.Gln803Lys)
c.8341C>A (p.Gln2781Lys)
c.896-29475C>A
c.3030+142C>A (n.3030+142C>A)
c.8215C>A (p.Gln2739Lys)
n.2144C>A
c.8344C>A (p.Gln2782Lys)
2g.73490300C>GCA347268334ALMS1c.7960C>G (p.Gln2654Glu)
c.1352C>G
c.5412C>G
c.2407C>G (p.Gln803Glu)
c.8341C>G (p.Gln2781Glu)
c.896-29475C>G
c.3030+142C>G (n.3030+142C>G)
c.8215C>G (p.Gln2739Glu)
n.2144C>G
c.8344C>G (p.Gln2782Glu)
2g.73490300C>TCA347268337ALMS1c.7960C>T (p.Gln2654Ter)
c.1352C>T
c.5412C>T
c.2407C>T (p.Gln803Ter)
c.8341C>T (p.Gln2781Ter)
c.896-29475C>T
c.3030+142C>T (n.3030+142C>T)
c.8215C>T (p.Gln2739Ter)
n.2144C>T
c.8344C>T (p.Gln2782Ter)
 gnomAD v4
2g.73490301A>CCA347268345ALMS1c.7961A>C (p.Gln2654Pro)
c.1353A>C
c.5413A>C
c.2408A>C (p.Gln803Pro)
c.8342A>C (p.Gln2781Pro)
c.896-29474A>C
c.3030+143A>C (n.3030+143A>C)
c.8216A>C (p.Gln2739Pro)
n.2145A>C
c.8345A>C (p.Gln2782Pro)
2g.73490301A>GCA347268340ALMS1c.7961A>G (p.Gln2654Arg)
c.1353A>G
c.5413A>G
c.2408A>G (p.Gln803Arg)
c.8342A>G (p.Gln2781Arg)
c.896-29474A>G
c.3030+143A>G (n.3030+143A>G)
c.8216A>G (p.Gln2739Arg)
n.2145A>G
c.8345A>G (p.Gln2782Arg)
2g.73490301A>TCA347268343ALMS1c.7961A>T (p.Gln2654Leu)
c.1353A>T
c.5413A>T
c.2408A>T (p.Gln803Leu)
c.8342A>T (p.Gln2781Leu)
c.896-29474A>T
c.3030+143A>T (n.3030+143A>T)
c.8216A>T (p.Gln2739Leu)
n.2145A>T
c.8345A>T (p.Gln2782Leu)
2g.73490302delCA2580068253ALMS1c.7962del (p.Asp2655IlefsTer4)
c.1354del
c.5414del
c.2409del (p.Asp804IlefsTer4)
c.8343del (p.Asp2782IlefsTer4)
c.896-29473del
c.3030+144del (n.3030+144del)
c.8217del (p.Asp2740IlefsTer4)
n.2146del
c.8346del (p.Asp2783IlefsTer4)
 ClinVar
2g.73490302A>CCA347268347ALMS1c.7962A>C (p.Gln2654His)
c.1354A>C
c.5414A>C
c.2409A>C (p.Gln803His)
c.8343A>C (p.Gln2781His)
c.896-29473A>C
c.3030+144A>C (n.3030+144A>C)
c.8217A>C (p.Gln2739His)
n.2146A>C
c.8346A>C (p.Gln2782His)
2g.73490302A>GCA427001579ALMS1c.7962A>G (p.Gln2654=)
c.1354A>G
c.5414A>G
c.2409A>G (p.Gln803=)
c.8343A>G (p.Gln2781=)
c.896-29473A>G
c.3030+144A>G (n.3030+144A>G)
c.8217A>G (p.Gln2739=)
n.2146A>G
c.8346A>G (p.Gln2782=)
2g.73490302A>TCA347268353ALMS1c.7962A>T (p.Gln2654His)
c.1354A>T
c.5414A>T
c.2409A>T (p.Gln803His)
c.8343A>T (p.Gln2781His)
c.896-29473A>T
c.3030+144A>T (n.3030+144A>T)
c.8217A>T (p.Gln2739His)
n.2146A>T
c.8346A>T (p.Gln2782His)
 gnomAD v4
2g.73490303G>ACA347268356ALMS1c.7963G>A (p.Asp2655Asn)
c.1355G>A
c.5415G>A
c.2410G>A (p.Asp804Asn)
c.8344G>A (p.Asp2782Asn)
c.896-29472G>A
c.3030+145G>A (n.3030+145G>A)
c.8218G>A (p.Asp2740Asn)
n.2147G>A
c.8347G>A (p.Asp2783Asn)
2g.73490303G>CCA347268359ALMS1c.7963G>C (p.Asp2655His)
c.1355G>C
c.5415G>C
c.2410G>C (p.Asp804His)
c.8344G>C (p.Asp2782His)
c.896-29472G>C
c.3030+145G>C (n.3030+145G>C)
c.8218G>C (p.Asp2740His)
n.2147G>C
c.8347G>C (p.Asp2783His)
2g.73490303G>TCA347268361ALMS1c.7963G>T (p.Asp2655Tyr)
c.1355G>T
c.5415G>T
c.2410G>T (p.Asp804Tyr)
c.8344G>T (p.Asp2782Tyr)
c.896-29472G>T
c.3030+145G>T (n.3030+145G>T)
c.8218G>T (p.Asp2740Tyr)
n.2147G>T
c.8347G>T (p.Asp2783Tyr)
2g.73490304A=CA1260981832ALMS1c.7964A= (p.Asp2655=)
c.1356A=
c.5416A=
c.2411A= (p.Asp804=)
c.8345A= (p.Asp2782=)
c.896-29471A=
c.3030+146A= (n.3030+146A=)
c.8219A= (p.Asp2740=)
n.2148A=
c.8348A= (p.Asp2783=)
2g.73490304A>CCA347268364ALMS1c.7964A>C (p.Asp2655Ala)
c.1356A>C
c.5416A>C
c.2411A>C (p.Asp804Ala)
c.8345A>C (p.Asp2782Ala)
c.896-29471A>C
c.3030+146A>C (n.3030+146A>C)
c.8219A>C (p.Asp2740Ala)
n.2148A>C
c.8348A>C (p.Asp2783Ala)
2g.73490304A>GCA347268370ALMS1c.7964A>G (p.Asp2655Gly)
c.1356A>G
c.5416A>G
c.2411A>G (p.Asp804Gly)
c.8345A>G (p.Asp2782Gly)
c.896-29471A>G
c.3030+146A>G (n.3030+146A>G)
c.8219A>G (p.Asp2740Gly)
n.2148A>G
c.8348A>G (p.Asp2783Gly)
 ClinVar dbSNP gnomAD v4
2g.73490304A>TCA347268366ALMS1c.7964A>T (p.Asp2655Val)
c.1356A>T
c.5416A>T
c.2411A>T (p.Asp804Val)
c.8345A>T (p.Asp2782Val)
c.896-29471A>T
c.3030+146A>T (n.3030+146A>T)
c.8219A>T (p.Asp2740Val)
n.2148A>T
c.8348A>T (p.Asp2783Val)
 gnomAD v4
2g.73490305T>ACA347268372ALMS1c.7965T>A (p.Asp2655Glu)
c.1357T>A
c.5417T>A
c.2412T>A (p.Asp804Glu)
c.8346T>A (p.Asp2782Glu)
c.896-29470T>A
c.3030+147T>A (n.3030+147T>A)
c.8220T>A (p.Asp2740Glu)
n.2149T>A
c.8349T>A (p.Asp2783Glu)
2g.73490305T>CCA427001588ALMS1c.7965T>C (p.Asp2655=)
c.1357T>C
c.5417T>C
c.2412T>C (p.Asp804=)
c.8346T>C (p.Asp2782=)
c.896-29470T>C
c.3030+147T>C (n.3030+147T>C)
c.8220T>C (p.Asp2740=)
n.2149T>C
c.8349T>C (p.Asp2783=)
2g.73490305T>GCA347268375ALMS1c.7965T>G (p.Asp2655Glu)
c.1357T>G
c.5417T>G
c.2412T>G (p.Asp804Glu)
c.8346T>G (p.Asp2782Glu)
c.896-29470T>G
c.3030+147T>G (n.3030+147T>G)
c.8220T>G (p.Asp2740Glu)
n.2149T>G
c.8349T>G (p.Asp2783Glu)
2g.73490305_73490309delCA913090808ALMS1c.7965_7969del (p.Asp2655GlufsTer9)
c.1357_1361del
c.5417_5421del
c.2412_2416del (p.Asp804GlufsTer9)
c.8346_8350del (p.Asp2782GlufsTer9)
c.896-29470_896-29466del
c.3030+147_3030+151del (n.3030+147_3030+151del)
c.8220_8224del (p.Asp2740GlufsTer9)
n.2149_2153del
c.8349_8353del (p.Asp2783GlufsTer9)
2g.73490305_73490309delinsTAAAGCA1260981833ALMS1c.7965_7969delinsTAAAG (p.Asp2655=)
c.1357_1361delinsTAAAG
c.5417_5421delinsTAAAG
c.2412_2416delinsTAAAG (p.Asp804=)
c.8346_8350delinsTAAAG (p.Asp2782=)
c.896-29470_896-29466delinsTAAAG
c.3030+147_3030+151delinsTAAAG (n.3030+147_3030+151delinsTAAAG)
c.8220_8224delinsTAAAG (p.Asp2740=)
n.2149_2153delinsTAAAG
c.8349_8353delinsTAAAG (p.Asp2783=)
2g.73490306A>CCA347268376ALMS1c.7966A>C (p.Lys2656Gln)
c.1358A>C
c.5418A>C
c.2413A>C (p.Lys805Gln)
c.8347A>C (p.Lys2783Gln)
c.896-29469A>C
c.3030+148A>C (n.3030+148A>C)
c.8221A>C (p.Lys2741Gln)
n.2150A>C
c.8350A>C (p.Lys2784Gln)
2g.73490306A>GCA347268379ALMS1c.7966A>G (p.Lys2656Glu)
c.1358A>G
c.5418A>G
c.2413A>G (p.Lys805Glu)
c.8347A>G (p.Lys2783Glu)
c.896-29469A>G
c.3030+148A>G (n.3030+148A>G)
c.8221A>G (p.Lys2741Glu)
n.2150A>G
c.8350A>G (p.Lys2784Glu)
2g.73490306A>TCA347268381ALMS1c.7966A>T (p.Lys2656Ter)
c.1358A>T
c.5418A>T
c.2413A>T (p.Lys805Ter)
c.8347A>T (p.Lys2783Ter)
c.896-29469A>T
c.3030+148A>T (n.3030+148A>T)
c.8221A>T (p.Lys2741Ter)
n.2150A>T
c.8350A>T (p.Lys2784Ter)
2g.73490308_73490311delCA658821977ALMS1c.7968_7971del (p.Glu2657Ter)
c.1360_1363del
c.5420_5423del
c.2415_2418del (p.Glu806Ter)
c.8349_8352del (p.Glu2784Ter)
c.896-29467_896-29464del
c.3030+150_3030+153del (n.3030+150_3030+153del)
c.8223_8226del (p.Glu2742Ter)
n.2152_2155del
c.8352_8355del (p.Glu2785Ter)
 ClinVar dbSNP gnomAD v4
2g.73490307A>CCA347268384ALMS1c.7967A>C (p.Lys2656Thr)
c.1359A>C
c.5419A>C
c.2414A>C (p.Lys805Thr)
c.8348A>C (p.Lys2783Thr)
c.896-29468A>C
c.3030+149A>C (n.3030+149A>C)
c.8222A>C (p.Lys2741Thr)
n.2151A>C
c.8351A>C (p.Lys2784Thr)
2g.73490307A>GCA347268386ALMS1c.7967A>G (p.Lys2656Arg)
c.1359A>G
c.5419A>G
c.2414A>G (p.Lys805Arg)
c.8348A>G (p.Lys2783Arg)
c.896-29468A>G
c.3030+149A>G (n.3030+149A>G)
c.8222A>G (p.Lys2741Arg)
n.2151A>G
c.8351A>G (p.Lys2784Arg)
2g.73490307A>TCA347268388ALMS1c.7967A>T (p.Lys2656Ile)
c.1359A>T
c.5419A>T
c.2414A>T (p.Lys805Ile)
c.8348A>T (p.Lys2783Ile)
c.896-29468A>T
c.3030+149A>T (n.3030+149A>T)
c.8222A>T (p.Lys2741Ile)
n.2151A>T
c.8351A>T (p.Lys2784Ile)
2g.73490308A=CA1260981839ALMS1c.7968A= (p.Lys2656=)
c.1360A=
c.5420A=
c.2415A= (p.Lys805=)
c.8349A= (p.Lys2783=)
c.896-29467A=
c.3030+150A= (n.3030+150A=)
c.8223A= (p.Lys2741=)
n.2152A=
c.8352A= (p.Lys2784=)
2g.73490308A>CCA347268391ALMS1c.7968A>C (p.Lys2656Asn)
c.1360A>C
c.5420A>C
c.2415A>C (p.Lys805Asn)
c.8349A>C (p.Lys2783Asn)
c.896-29467A>C
c.3030+150A>C (n.3030+150A>C)
c.8223A>C (p.Lys2741Asn)
n.2152A>C
c.8352A>C (p.Lys2784Asn)
2g.73490308A>GCA1714453ALMS1c.7968A>G (p.Lys2656=)
c.1360A>G
c.5420A>G
c.2415A>G (p.Lys805=)
c.8349A>G (p.Lys2783=)
c.896-29467A>G
c.3030+150A>G (n.3030+150A>G)
c.8223A>G (p.Lys2741=)
n.2152A>G
c.8352A>G (p.Lys2784=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490308A>TCA347268395ALMS1c.7968A>T (p.Lys2656Asn)
c.1360A>T
c.5420A>T
c.2415A>T (p.Lys805Asn)
c.8349A>T (p.Lys2783Asn)
c.896-29467A>T
c.3030+150A>T (n.3030+150A>T)
c.8223A>T (p.Lys2741Asn)
n.2152A>T
c.8352A>T (p.Lys2784Asn)
2g.73490309G>ACA347268398ALMS1c.7969G>A (p.Glu2657Lys)
c.1361G>A
c.5421G>A
c.2416G>A (p.Glu806Lys)
c.8350G>A (p.Glu2784Lys)
c.896-29466G>A
c.3030+151G>A (n.3030+151G>A)
c.8224G>A (p.Glu2742Lys)
n.2153G>A
c.8353G>A (p.Glu2785Lys)
2g.73490309G>CCA347268402ALMS1c.7969G>C (p.Glu2657Gln)
c.1361G>C
c.5421G>C
c.2416G>C (p.Glu806Gln)
c.8350G>C (p.Glu2784Gln)
c.896-29466G>C
c.3030+151G>C (n.3030+151G>C)
c.8224G>C (p.Glu2742Gln)
n.2153G>C
c.8353G>C (p.Glu2785Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73490309G=CA1260981843ALMS1c.7969G= (p.Glu2657=)
c.1361G=
c.5421G=
c.2416G= (p.Glu806=)
c.8350G= (p.Glu2784=)
c.896-29466G=
c.3030+151G= (n.3030+151G=)
c.8224G= (p.Glu2742=)
n.2153G=
c.8353G= (p.Glu2785=)
2g.73490309G>TCA347268400ALMS1c.7969G>T (p.Glu2657Ter)
c.1361G>T
c.5421G>T
c.2416G>T (p.Glu806Ter)
c.8350G>T (p.Glu2784Ter)
c.896-29466G>T
c.3030+151G>T (n.3030+151G>T)
c.8224G>T (p.Glu2742Ter)
n.2153G>T
c.8353G>T (p.Glu2785Ter)
 dbSNP
2g.73490310A=CA1260981845ALMS1c.7970A= (p.Glu2657=)
c.1362A=
c.5422A=
c.2417A= (p.Glu806=)
c.8351A= (p.Glu2784=)
c.896-29465A=
c.3030+152A= (n.3030+152A=)
c.8225A= (p.Glu2742=)
n.2154A=
c.8354A= (p.Glu2785=)
2g.73490310A>CCA347268404ALMS1c.7970A>C (p.Glu2657Ala)
c.1362A>C
c.5422A>C
c.2417A>C (p.Glu806Ala)
c.8351A>C (p.Glu2784Ala)
c.896-29465A>C
c.3030+152A>C (n.3030+152A>C)
c.8225A>C (p.Glu2742Ala)
n.2154A>C
c.8354A>C (p.Glu2785Ala)
2g.73490310A>GCA347268408ALMS1c.7970A>G (p.Glu2657Gly)
c.1362A>G
c.5422A>G
c.2417A>G (p.Glu806Gly)
c.8351A>G (p.Glu2784Gly)
c.896-29465A>G
c.3030+152A>G (n.3030+152A>G)
c.8225A>G (p.Glu2742Gly)
n.2154A>G
c.8354A>G (p.Glu2785Gly)
2g.73490310A>TCA347268405ALMS1c.7970A>T (p.Glu2657Val)
c.1362A>T
c.5422A>T
c.2417A>T (p.Glu806Val)
c.8351A>T (p.Glu2784Val)
c.896-29465A>T
c.3030+152A>T (n.3030+152A>T)
c.8225A>T (p.Glu2742Val)
n.2154A>T
c.8354A>T (p.Glu2785Val)
 dbSNP
2g.73490311A=CA1260981847ALMS1c.7971A= (p.Glu2657=)
c.1363A=
c.5423A=
c.2418A= (p.Glu806=)
c.8352A= (p.Glu2784=)
c.896-29464A=
c.3030+153A= (n.3030+153A=)
c.8226A= (p.Glu2742=)
n.2155A=
c.8355A= (p.Glu2785=)
2g.73490311A>CCA347268410ALMS1c.7971A>C (p.Glu2657Asp)
c.1363A>C
c.5423A>C
c.2418A>C (p.Glu806Asp)
c.8352A>C (p.Glu2784Asp)
c.896-29464A>C
c.3030+153A>C (n.3030+153A>C)
c.8226A>C (p.Glu2742Asp)
n.2155A>C
c.8355A>C (p.Glu2785Asp)
2g.73490311A>GCA1714454ALMS1c.7971A>G (p.Glu2657=)
c.1363A>G
c.5423A>G
c.2418A>G (p.Glu806=)
c.8352A>G (p.Glu2784=)
c.896-29464A>G
c.3030+153A>G (n.3030+153A>G)
c.8226A>G (p.Glu2742=)
n.2155A>G
c.8355A>G (p.Glu2785=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73490311A>TCA347268413ALMS1c.7971A>T (p.Glu2657Asp)
c.1363A>T
c.5423A>T
c.2418A>T (p.Glu806Asp)
c.8352A>T (p.Glu2784Asp)
c.896-29464A>T
c.3030+153A>T (n.3030+153A>T)
c.8226A>T (p.Glu2742Asp)
n.2155A>T
c.8355A>T (p.Glu2785Asp)
2g.73490312G>ACA347268417ALMS1c.7972G>A (p.Val2658Met)
c.1364G>A
c.5424G>A
c.2419G>A (p.Val807Met)
c.8353G>A (p.Val2785Met)
c.896-29463G>A
c.3030+154G>A (n.3030+154G>A)
c.8227G>A (p.Val2743Met)
n.2156G>A
c.8356G>A (p.Val2786Met)
 gnomAD v4
2g.73490312G>CCA347268420ALMS1c.7972G>C (p.Val2658Leu)
c.1364G>C
c.5424G>C
c.2419G>C (p.Val807Leu)
c.8353G>C (p.Val2785Leu)
c.896-29463G>C
c.3030+154G>C (n.3030+154G>C)
c.8227G>C (p.Val2743Leu)
n.2156G>C
c.8356G>C (p.Val2786Leu)
2g.73490312G>TCA347268422ALMS1c.7972G>T (p.Val2658Leu)
c.1364G>T
c.5424G>T
c.2419G>T (p.Val807Leu)
c.8353G>T (p.Val2785Leu)
c.896-29463G>T
c.3030+154G>T (n.3030+154G>T)
c.8227G>T (p.Val2743Leu)
n.2156G>T
c.8356G>T (p.Val2786Leu)
2g.73490313T>ACA347268425ALMS1c.7973T>A (p.Val2658Glu)
c.1365T>A
c.5425T>A
c.2420T>A (p.Val807Glu)
c.8354T>A (p.Val2785Glu)
c.896-29462T>A
c.3030+155T>A (n.3030+155T>A)
c.8228T>A (p.Val2743Glu)
n.2157T>A
c.8357T>A (p.Val2786Glu)
2g.73490313T>CCA347268426ALMS1c.7973T>C (p.Val2658Ala)
c.1365T>C
c.5425T>C
c.2420T>C (p.Val807Ala)
c.8354T>C (p.Val2785Ala)
c.896-29462T>C
c.3030+155T>C (n.3030+155T>C)
c.8228T>C (p.Val2743Ala)
n.2157T>C
c.8357T>C (p.Val2786Ala)
2g.73490313T>GCA347268429ALMS1c.7973T>G (p.Val2658Gly)
c.1365T>G
c.5425T>G
c.2420T>G (p.Val807Gly)
c.8354T>G (p.Val2785Gly)
c.896-29462T>G
c.3030+155T>G (n.3030+155T>G)
c.8228T>G (p.Val2743Gly)
n.2157T>G
c.8357T>G (p.Val2786Gly)
2g.73490314G>ACA427013750ALMS1c.7974G>A (p.Val2658=)
c.1366G>A
c.5426G>A
c.2421G>A (p.Val807=)
c.8355G>A (p.Val2785=)
c.896-29461G>A
c.3030+156G>A (n.3030+156G>A)
c.8229G>A (p.Val2743=)
n.2158G>A
c.8358G>A (p.Val2786=)
2g.73490314G>CCA427013753ALMS1c.7974G>C (p.Val2658=)
c.1366G>C
c.5426G>C
c.2421G>C (p.Val807=)
c.8355G>C (p.Val2785=)
c.896-29461G>C
c.3030+156G>C (n.3030+156G>C)
c.8229G>C (p.Val2743=)
n.2158G>C
c.8358G>C (p.Val2786=)
2g.73490314G>TCA427013754ALMS1c.7974G>T (p.Val2658=)
c.1366G>T
c.5426G>T
c.2421G>T (p.Val807=)
c.8355G>T (p.Val2785=)
c.896-29461G>T
c.3030+156G>T (n.3030+156G>T)
c.8229G>T (p.Val2743=)
n.2158G>T
c.8358G>T (p.Val2786=)
2g.73490315A>CCA347268432ALMS1c.7975A>C (p.Thr2659Pro)
c.1367A>C
c.5427A>C
c.2422A>C (p.Thr808Pro)
c.8356A>C (p.Thr2786Pro)
c.896-29460A>C
c.3030+157A>C (n.3030+157A>C)
c.8230A>C (p.Thr2744Pro)
n.2159A>C
c.8359A>C (p.Thr2787Pro)
2g.73490315A>GCA347268433ALMS1c.7975A>G (p.Thr2659Ala)
c.1367A>G
c.5427A>G
c.2422A>G (p.Thr808Ala)
c.8356A>G (p.Thr2786Ala)
c.896-29460A>G
c.3030+157A>G (n.3030+157A>G)
c.8230A>G (p.Thr2744Ala)
n.2159A>G
c.8359A>G (p.Thr2787Ala)
2g.73490315A>TCA347268436ALMS1c.7975A>T (p.Thr2659Ser)
c.1367A>T
c.5427A>T
c.2422A>T (p.Thr808Ser)
c.8356A>T (p.Thr2786Ser)
c.896-29460A>T
c.3030+157A>T (n.3030+157A>T)
c.8230A>T (p.Thr2744Ser)
n.2159A>T
c.8359A>T (p.Thr2787Ser)
2g.73490316C>ACA347268439ALMS1c.7976C>A (p.Thr2659Asn)
c.1368C>A
c.5428C>A
c.2423C>A (p.Thr808Asn)
c.8357C>A (p.Thr2786Asn)
c.896-29459C>A
c.3030+158C>A (n.3030+158C>A)
c.8231C>A (p.Thr2744Asn)
n.2160C>A
c.8360C>A (p.Thr2787Asn)
2g.73490316C=CA1260981850ALMS1c.7976C= (p.Thr2659=)
c.1368C=
c.5428C=
c.2423C= (p.Thr808=)
c.8357C= (p.Thr2786=)
c.896-29459C=
c.3030+158C= (n.3030+158C=)
c.8231C= (p.Thr2744=)
n.2160C=
c.8360C= (p.Thr2787=)
2g.73490316C>GCA1714455ALMS1c.7976C>G (p.Thr2659Ser)
c.1368C>G
c.5428C>G
c.2423C>G (p.Thr808Ser)
c.8357C>G (p.Thr2786Ser)
c.896-29459C>G
c.3030+158C>G (n.3030+158C>G)
c.8231C>G (p.Thr2744Ser)
n.2160C>G
c.8360C>G (p.Thr2787Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490316C>TCA347268442ALMS1c.7976C>T (p.Thr2659Ile)
c.1368C>T
c.5428C>T
c.2423C>T (p.Thr808Ile)
c.8357C>T (p.Thr2786Ile)
c.896-29459C>T
c.3030+158C>T (n.3030+158C>T)
c.8231C>T (p.Thr2744Ile)
n.2160C>T
c.8360C>T (p.Thr2787Ile)
 gnomAD v4
2g.73490316_73490322delCA913090809ALMS1c.7976_7982del (p.Thr2659LysfsTer25)
c.1368_1374del
c.5428_5434del
c.2423_2429del (p.Thr808LysfsTer25)
c.8357_8363del (p.Thr2786LysfsTer25)
c.896-29459_896-29453del
c.3030+158_3030+164del (n.3030+158_3030+164del)
c.8231_8237del (p.Thr2744LysfsTer25)
n.2160_2166del
c.8360_8366del (p.Thr2787LysfsTer25)
2g.73490316_73490322delinsCTATTTTCA1260981852ALMS1c.7976_7982delinsCTATTTT (p.Thr2659=)
c.1368_1374delinsCTATTTT
c.5428_5434delinsCTATTTT
c.2423_2429delinsCTATTTT (p.Thr808=)
c.8357_8363delinsCTATTTT (p.Thr2786=)
c.896-29459_896-29453delinsCTATTTT
c.3030+158_3030+164delinsCTATTTT (n.3030+158_3030+164delinsCTATTTT)
c.8231_8237delinsCTATTTT (p.Thr2744=)
n.2160_2166delinsCTATTTT
c.8360_8366delinsCTATTTT (p.Thr2787=)
2g.73490317T>ACA427013768ALMS1c.7977T>A (p.Thr2659=)
c.1369T>A
c.5429T>A
c.2424T>A (p.Thr808=)
c.8358T>A (p.Thr2786=)
c.896-29458T>A
c.3030+159T>A (n.3030+159T>A)
c.8232T>A (p.Thr2744=)
n.2161T>A
c.8361T>A (p.Thr2787=)
2g.73490317T>CCA427013770ALMS1c.7977T>C (p.Thr2659=)
c.1369T>C
c.5429T>C
c.2424T>C (p.Thr808=)
c.8358T>C (p.Thr2786=)
c.896-29458T>C
c.3030+159T>C (n.3030+159T>C)
c.8232T>C (p.Thr2744=)
n.2161T>C
c.8361T>C (p.Thr2787=)
2g.73490317T>GCA427013772ALMS1c.7977T>G (p.Thr2659=)
c.1369T>G
c.5429T>G
c.2424T>G (p.Thr808=)
c.8358T>G (p.Thr2786=)
c.896-29458T>G
c.3030+159T>G (n.3030+159T>G)
c.8232T>G (p.Thr2744=)
n.2161T>G
c.8361T>G (p.Thr2787=)
 ClinVar dbSNP gnomAD v4
2g.73490317dupCA2580068255ALMS1c.7977dup (p.Ile2660TyrfsTer6)
c.1369dup
c.5429dup
c.2424dup (p.Ile809TyrfsTer6)
c.8358dup (p.Ile2787TyrfsTer6)
c.896-29458dup
c.3030+159dup (n.3030+159dup)
c.8232dup (p.Ile2745TyrfsTer6)
n.2161dup
c.8361dup (p.Ile2788TyrfsTer6)
 ClinVar
2g.73490317_73490322delCA658821978ALMS1c.7977_7982del (p.Ile2660_Leu2661del)
c.1369_1374del
c.5429_5434del
c.2424_2429del (p.Ile809_Leu810del)
c.8358_8363del (p.Ile2787_Leu2788del)
c.896-29458_896-29453del
c.3030+159_3030+164del (n.3030+159_3030+164del)
c.8232_8237del (p.Ile2745_Leu2746del)
n.2161_2166del
c.8361_8366del (p.Ile2788_Leu2789del)
 ClinVar dbSNP
2g.73490318A=CA1260981886ALMS1c.7978A= (p.Ile2660=)
c.1370A=
c.5430A=
c.2425A= (p.Ile809=)
c.8359A= (p.Ile2787=)
c.896-29457A=
c.3030+160A= (n.3030+160A=)
c.8233A= (p.Ile2745=)
n.2162A=
c.8362A= (p.Ile2788=)
2g.73490318A>CCA347268447ALMS1c.7978A>C (p.Ile2660Leu)
c.1370A>C
c.5430A>C
c.2425A>C (p.Ile809Leu)
c.8359A>C (p.Ile2787Leu)
c.896-29457A>C
c.3030+160A>C (n.3030+160A>C)
c.8233A>C (p.Ile2745Leu)
n.2162A>C
c.8362A>C (p.Ile2788Leu)
2g.73490318A>GCA1714456ALMS1c.7978A>G (p.Ile2660Val)
c.1370A>G
c.5430A>G
c.2425A>G (p.Ile809Val)
c.8359A>G (p.Ile2787Val)
c.896-29457A>G
c.3030+160A>G (n.3030+160A>G)
c.8233A>G (p.Ile2745Val)
n.2162A>G
c.8362A>G (p.Ile2788Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73490318A>TCA347268450ALMS1c.7978A>T (p.Ile2660Phe)
c.1370A>T
c.5430A>T
c.2425A>T (p.Ile809Phe)
c.8359A>T (p.Ile2787Phe)
c.896-29457A>T
c.3030+160A>T (n.3030+160A>T)
c.8233A>T (p.Ile2745Phe)
n.2162A>T
c.8362A>T (p.Ile2788Phe)
 dbSNP gnomAD v4
2g.73490319T>ACA347268453ALMS1c.7979T>A (p.Ile2660Asn)
c.1371T>A
c.5431T>A
c.2426T>A (p.Ile809Asn)
c.8360T>A (p.Ile2787Asn)
c.896-29456T>A
c.3030+161T>A (n.3030+161T>A)
c.8234T>A (p.Ile2745Asn)
n.2163T>A
c.8363T>A (p.Ile2788Asn)
2g.73490319T>CCA347268454ALMS1c.7979T>C (p.Ile2660Thr)
c.1371T>C
c.5431T>C
c.2426T>C (p.Ile809Thr)
c.8360T>C (p.Ile2787Thr)
c.896-29456T>C
c.3030+161T>C (n.3030+161T>C)
c.8234T>C (p.Ile2745Thr)
n.2163T>C
c.8363T>C (p.Ile2788Thr)
2g.73490319T>GCA347268455ALMS1c.7979T>G (p.Ile2660Ser)
c.1371T>G
c.5431T>G
c.2426T>G (p.Ile809Ser)
c.8360T>G (p.Ile2787Ser)
c.896-29456T>G
c.3030+161T>G (n.3030+161T>G)
c.8234T>G (p.Ile2745Ser)
n.2163T>G
c.8363T>G (p.Ile2788Ser)
2g.73490322delCA2586969435ALMS1c.7982del (p.Leu2661Ter)
c.1374del
c.5434del
c.2429del (p.Leu810Ter)
c.8363del (p.Leu2788Ter)
c.896-29453del
c.3030+164del (n.3030+164del)
c.8237del (p.Leu2746Ter)
n.2166del
c.8366del (p.Leu2789Ter)
2g.73490320T>ACA427013791ALMS1c.7980T>A (p.Ile2660=)
c.1372T>A
c.5432T>A
c.2427T>A (p.Ile809=)
c.8361T>A (p.Ile2787=)
c.896-29455T>A
c.3030+162T>A (n.3030+162T>A)
c.8235T>A (p.Ile2745=)
n.2164T>A
c.8364T>A (p.Ile2788=)
2g.73490320T>CCA427013787ALMS1c.7980T>C (p.Ile2660=)
c.1372T>C
c.5432T>C
c.2427T>C (p.Ile809=)
c.8361T>C (p.Ile2787=)
c.896-29455T>C
c.3030+162T>C (n.3030+162T>C)
c.8235T>C (p.Ile2745=)
n.2164T>C
c.8364T>C (p.Ile2788=)
2g.73490320T>GCA347268460ALMS1c.7980T>G (p.Ile2660Met)
c.1372T>G
c.5432T>G
c.2427T>G (p.Ile809Met)
c.8361T>G (p.Ile2787Met)
c.896-29455T>G
c.3030+162T>G (n.3030+162T>G)
c.8235T>G (p.Ile2745Met)
n.2164T>G
c.8364T>G (p.Ile2788Met)
2g.73490321T>ACA347268462ALMS1c.7981T>A (p.Leu2661Ile)
c.1373T>A
c.5433T>A
c.2428T>A (p.Leu810Ile)
c.8362T>A (p.Leu2788Ile)
c.896-29454T>A
c.3030+163T>A (n.3030+163T>A)
c.8236T>A (p.Leu2746Ile)
n.2165T>A
c.8365T>A (p.Leu2789Ile)
2g.73490321T>CCA427013796ALMS1c.7981T>C (p.Leu2661=)
c.1373T>C
c.5433T>C
c.2428T>C (p.Leu810=)
c.8362T>C (p.Leu2788=)
c.896-29454T>C
c.3030+163T>C (n.3030+163T>C)
c.8236T>C (p.Leu2746=)
n.2165T>C
c.8365T>C (p.Leu2789=)
2g.73490321T>GCA347268469ALMS1c.7981T>G (p.Leu2661Val)
c.1373T>G
c.5433T>G
c.2428T>G (p.Leu810Val)
c.8362T>G (p.Leu2788Val)
c.896-29454T>G
c.3030+163T>G (n.3030+163T>G)
c.8236T>G (p.Leu2746Val)
n.2165T>G
c.8365T>G (p.Leu2789Val)
2g.73490322T>ACA347268475ALMS1c.7982T>A (p.Leu2661Ter)
c.1374T>A
c.5434T>A
c.2429T>A (p.Leu810Ter)
c.8363T>A (p.Leu2788Ter)
c.896-29453T>A
c.3030+164T>A (n.3030+164T>A)
c.8237T>A (p.Leu2746Ter)
n.2166T>A
c.8366T>A (p.Leu2789Ter)
2g.73490322T>CCA347268476ALMS1c.7982T>C (p.Leu2661Ser)
c.1374T>C
c.5434T>C
c.2429T>C (p.Leu810Ser)
c.8363T>C (p.Leu2788Ser)
c.896-29453T>C
c.3030+164T>C (n.3030+164T>C)
c.8237T>C (p.Leu2746Ser)
n.2166T>C
c.8366T>C (p.Leu2789Ser)
 dbSNP
2g.73490322T>GCA347268473ALMS1c.7982T>G (p.Leu2661Ter)
c.1374T>G
c.5434T>G
c.2429T>G (p.Leu810Ter)
c.8363T>G (p.Leu2788Ter)
c.896-29453T>G
c.3030+164T>G (n.3030+164T>G)
c.8237T>G (p.Leu2746Ter)
n.2166T>G
c.8366T>G (p.Leu2789Ter)
2g.73490323A=CA1260981893ALMS1c.7983A= (p.Leu2661=)
c.1375A=
c.5435A=
c.2430A= (p.Leu810=)
c.8364A= (p.Leu2788=)
c.896-29452A=
c.3030+165A= (n.3030+165A=)
c.8238A= (p.Leu2746=)
n.2167A=
c.8367A= (p.Leu2789=)
2g.73490323A>CCA347268480ALMS1c.7983A>C (p.Leu2661Phe)
c.1375A>C
c.5435A>C
c.2430A>C (p.Leu810Phe)
c.8364A>C (p.Leu2788Phe)
c.896-29452A>C
c.3030+165A>C (n.3030+165A>C)
c.8238A>C (p.Leu2746Phe)
n.2167A>C
c.8367A>C (p.Leu2789Phe)
2g.73490323A>GCA50378473ALMS1c.7983A>G (p.Leu2661=)
c.1375A>G
c.5435A>G
c.2430A>G (p.Leu810=)
c.8364A>G (p.Leu2788=)
c.896-29452A>G
c.3030+165A>G (n.3030+165A>G)
c.8238A>G (p.Leu2746=)
n.2167A>G
c.8367A>G (p.Leu2789=)
 dbSNP gnomAD v3 gnomAD v4
2g.73490323A>TCA347268489ALMS1c.7983A>T (p.Leu2661Phe)
c.1375A>T
c.5435A>T
c.2430A>T (p.Leu810Phe)
c.8364A>T (p.Leu2788Phe)
c.896-29452A>T
c.3030+165A>T (n.3030+165A>T)
c.8238A>T (p.Leu2746Phe)
n.2167A>T
c.8367A>T (p.Leu2789Phe)
2g.73490324G>ACA347268491ALMS1c.7984G>A (p.Ala2662Thr)
c.1376G>A
c.5436G>A
c.2431G>A (p.Ala811Thr)
c.8365G>A (p.Ala2789Thr)
c.896-29451G>A
c.3030+166G>A (n.3030+166G>A)
c.8239G>A (p.Ala2747Thr)
n.2168G>A
c.8368G>A (p.Ala2790Thr)
2g.73490324G>CCA347268492ALMS1c.7984G>C (p.Ala2662Pro)
c.1376G>C
c.5436G>C
c.2431G>C (p.Ala811Pro)
c.8365G>C (p.Ala2789Pro)
c.896-29451G>C
c.3030+166G>C (n.3030+166G>C)
c.8239G>C (p.Ala2747Pro)
n.2168G>C
c.8368G>C (p.Ala2790Pro)
2g.73490324G>TCA347268493ALMS1c.7984G>T (p.Ala2662Ser)
c.1376G>T
c.5436G>T
c.2431G>T (p.Ala811Ser)
c.8365G>T (p.Ala2789Ser)
c.896-29451G>T
c.3030+166G>T (n.3030+166G>T)
c.8239G>T (p.Ala2747Ser)
n.2168G>T
c.8368G>T (p.Ala2790Ser)
2g.73490325C>ACA347268494ALMS1c.7985C>A (p.Ala2662Glu)
c.1377C>A
c.5437C>A
c.2432C>A (p.Ala811Glu)
c.8366C>A (p.Ala2789Glu)
c.896-29450C>A
c.3030+167C>A (n.3030+167C>A)
c.8240C>A (p.Ala2747Glu)
n.2169C>A
c.8369C>A (p.Ala2790Glu)
2g.73490325C=CA1260981895ALMS1c.7985C= (p.Ala2662=)
c.1377C=
c.5437C=
c.2432C= (p.Ala811=)
c.8366C= (p.Ala2789=)
c.896-29450C=
c.3030+167C= (n.3030+167C=)
c.8240C= (p.Ala2747=)
n.2169C=
c.8369C= (p.Ala2790=)
2g.73490325C>GCA347268496ALMS1c.7985C>G (p.Ala2662Gly)
c.1377C>G
c.5437C>G
c.2432C>G (p.Ala811Gly)
c.8366C>G (p.Ala2789Gly)
c.896-29450C>G
c.3030+167C>G (n.3030+167C>G)
c.8240C>G (p.Ala2747Gly)
n.2169C>G
c.8369C>G (p.Ala2790Gly)
2g.73490325C>TCA347268498ALMS1c.7985C>T (p.Ala2662Val)
c.1377C>T
c.5437C>T
c.2432C>T (p.Ala811Val)
c.8366C>T (p.Ala2789Val)
c.896-29450C>T
c.3030+167C>T (n.3030+167C>T)
c.8240C>T (p.Ala2747Val)
n.2169C>T
c.8369C>T (p.Ala2790Val)
 dbSNP gnomAD v2 gnomAD v4
2g.73490326A>CCA427013825ALMS1c.7986A>C (p.Ala2662=)
c.1378A>C
c.5438A>C
c.2433A>C (p.Ala811=)
c.8367A>C (p.Ala2789=)
c.896-29449A>C
c.3030+168A>C (n.3030+168A>C)
c.8241A>C (p.Ala2747=)
n.2170A>C
c.8370A>C (p.Ala2790=)
2g.73490326A>GCA427013827ALMS1c.7986A>G (p.Ala2662=)
c.1378A>G
c.5438A>G
c.2433A>G (p.Ala811=)
c.8367A>G (p.Ala2789=)
c.896-29449A>G
c.3030+168A>G (n.3030+168A>G)
c.8241A>G (p.Ala2747=)
n.2170A>G
c.8370A>G (p.Ala2790=)
2g.73490326A>TCA427013829ALMS1c.7986A>T (p.Ala2662=)
c.1378A>T
c.5438A>T
c.2433A>T (p.Ala811=)
c.8367A>T (p.Ala2789=)
c.896-29449A>T
c.3030+168A>T (n.3030+168A>T)
c.8241A>T (p.Ala2747=)
n.2170A>T
c.8370A>T (p.Ala2790=)
2g.73490327G>ACA347268501ALMS1c.7987G>A (p.Glu2663Lys)
c.1379G>A
c.5439G>A
c.2434G>A (p.Glu812Lys)
c.8368G>A (p.Glu2790Lys)
c.896-29448G>A
c.3030+169G>A (n.3030+169G>A)
c.8242G>A (p.Glu2748Lys)
n.2171G>A
c.8371G>A (p.Glu2791Lys)
2g.73490327G>CCA347268503ALMS1c.7987G>C (p.Glu2663Gln)
c.1379G>C
c.5439G>C
c.2434G>C (p.Glu812Gln)
c.8368G>C (p.Glu2790Gln)
c.896-29448G>C
c.3030+169G>C (n.3030+169G>C)
c.8242G>C (p.Glu2748Gln)
n.2171G>C
c.8371G>C (p.Glu2791Gln)
2g.73490327G>TCA347268505ALMS1c.7987G>T (p.Glu2663Ter)
c.1379G>T
c.5439G>T
c.2434G>T (p.Glu812Ter)
c.8368G>T (p.Glu2790Ter)
c.896-29448G>T
c.3030+169G>T (n.3030+169G>T)
c.8242G>T (p.Glu2748Ter)
n.2171G>T
c.8371G>T (p.Glu2791Ter)
2g.73490328A>CCA347268511ALMS1c.7988A>C (p.Glu2663Ala)
c.1380A>C
c.5440A>C
c.2435A>C (p.Glu812Ala)
c.8369A>C (p.Glu2790Ala)
c.896-29447A>C
c.3030+170A>C (n.3030+170A>C)
c.8243A>C (p.Glu2748Ala)
n.2172A>C
c.8372A>C (p.Glu2791Ala)
 gnomAD v4
2g.73490328A>GCA347268513ALMS1c.7988A>G (p.Glu2663Gly)
c.1380A>G
c.5440A>G
c.2435A>G (p.Glu812Gly)
c.8369A>G (p.Glu2790Gly)
c.896-29447A>G
c.3030+170A>G (n.3030+170A>G)
c.8243A>G (p.Glu2748Gly)
n.2172A>G
c.8372A>G (p.Glu2791Gly)
2g.73490328A>TCA347268508ALMS1c.7988A>T (p.Glu2663Val)
c.1380A>T
c.5440A>T
c.2435A>T (p.Glu812Val)
c.8369A>T (p.Glu2790Val)
c.896-29447A>T
c.3030+170A>T (n.3030+170A>T)
c.8243A>T (p.Glu2748Val)
n.2172A>T
c.8372A>T (p.Glu2791Val)
2g.73490329A>CCA347268516ALMS1c.7989A>C (p.Glu2663Asp)
c.1381A>C
c.5441A>C
c.2436A>C (p.Glu812Asp)
c.8370A>C (p.Glu2790Asp)
c.896-29446A>C
c.3030+171A>C (n.3030+171A>C)
c.8244A>C (p.Glu2748Asp)
n.2173A>C
c.8373A>C (p.Glu2791Asp)
 gnomAD v4
2g.73490329A>GCA427013845ALMS1c.7989A>G (p.Glu2663=)
c.1381A>G
c.5441A>G
c.2436A>G (p.Glu812=)
c.8370A>G (p.Glu2790=)
c.896-29446A>G
c.3030+171A>G (n.3030+171A>G)
c.8244A>G (p.Glu2748=)
n.2173A>G
c.8373A>G (p.Glu2791=)
 gnomAD v4
2g.73490329A>TCA347268518ALMS1c.7989A>T (p.Glu2663Asp)
c.1381A>T
c.5441A>T
c.2436A>T (p.Glu812Asp)
c.8370A>T (p.Glu2790Asp)
c.896-29446A>T
c.3030+171A>T (n.3030+171A>T)
c.8244A>T (p.Glu2748Asp)
n.2173A>T
c.8373A>T (p.Glu2791Asp)

Number of alleles fetched