Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73572481_73572546delCA2659617091ALMS1c.10223_10288del (p.Met3408_Asn3429del)
c.3309_3374del
c.7504_7569del
c.4670_4735del (p.Met1557_Asn1578del)
c.7549_7614del
c.10604_10669del (p.Met3535_Asn3556del)
c.758_823del (p.Met253_Asn274del)
c.1960_2025del
c.1701_1766del
c.4095_4160del (n.4095_4160del)
c.10478_10543del (p.Met3493_Asn3514del)
n.4407_4472del
c.10607_10672del (p.Met3536_Asn3557del)
 gnomAD v4
2g.73572512A=CA1261021244ALMS1c.10254A= (p.Ile3418=)
c.3340A=
c.7535A=
c.4701A= (p.Ile1567=)
c.7580A=
c.10635A= (p.Ile3545=)
c.789A= (p.Ile263=)
c.1991A=
c.23A=
c.1732A=
c.4126A= (n.4126A=)
c.10509A= (p.Ile3503=)
n.4438A=
c.10638A= (p.Ile3546=)
2g.73572512A>CCA427024059ALMS1c.10254A>C (p.Ile3418=)
c.3340A>C
c.7535A>C
c.4701A>C (p.Ile1567=)
c.7580A>C
c.10635A>C (p.Ile3545=)
c.789A>C (p.Ile263=)
c.1991A>C
c.23A>C
c.1732A>C
c.4126A>C (n.4126A>C)
c.10509A>C (p.Ile3503=)
n.4438A>C
c.10638A>C (p.Ile3546=)
2g.73572512A>GCA1715038ALMS1c.10254A>G (p.Ile3418Met)
c.3340A>G
c.7535A>G
c.4701A>G (p.Ile1567Met)
c.7580A>G
c.10635A>G (p.Ile3545Met)
c.789A>G (p.Ile263Met)
c.1991A>G
c.23A>G
c.1732A>G
c.4126A>G (n.4126A>G)
c.10509A>G (p.Ile3503Met)
n.4438A>G
c.10638A>G (p.Ile3546Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572512A>TCA427024062ALMS1c.10254A>T (p.Ile3418=)
c.3340A>T
c.7535A>T
c.4701A>T (p.Ile1567=)
c.7580A>T
c.10635A>T (p.Ile3545=)
c.789A>T (p.Ile263=)
c.1991A>T
c.23A>T
c.1732A>T
c.4126A>T (n.4126A>T)
c.10509A>T (p.Ile3503=)
n.4438A>T
c.10638A>T (p.Ile3546=)
2g.73572513A=CA1261021245ALMS1c.10255A= (p.Lys3419=)
c.3341A=
c.7536A=
c.4702A= (p.Lys1568=)
c.7581A=
c.10636A= (p.Lys3546=)
c.790A= (p.Lys264=)
c.1992A=
c.24A=
c.1733A=
c.4127A= (n.4127A=)
c.10510A= (p.Lys3504=)
n.4439A=
c.10639A= (p.Lys3547=)
2g.73572513A>CCA347284365ALMS1c.10255A>C (p.Lys3419Gln)
c.3341A>C
c.7536A>C
c.4702A>C (p.Lys1568Gln)
c.7581A>C
c.10636A>C (p.Lys3546Gln)
c.790A>C (p.Lys264Gln)
c.1992A>C
c.24A>C
c.1733A>C
c.4127A>C (n.4127A>C)
c.10510A>C (p.Lys3504Gln)
n.4439A>C
c.10639A>C (p.Lys3547Gln)
2g.73572513A>GCA347284368ALMS1c.10255A>G (p.Lys3419Glu)
c.3341A>G
c.7536A>G
c.4702A>G (p.Lys1568Glu)
c.7581A>G
c.10636A>G (p.Lys3546Glu)
c.790A>G (p.Lys264Glu)
c.1992A>G
c.24A>G
c.1733A>G
c.4127A>G (n.4127A>G)
c.10510A>G (p.Lys3504Glu)
n.4439A>G
c.10639A>G (p.Lys3547Glu)
 dbSNP
2g.73572513A>TCA347284370ALMS1c.10255A>T (p.Lys3419Ter)
c.3341A>T
c.7536A>T
c.4702A>T (p.Lys1568Ter)
c.7581A>T
c.10636A>T (p.Lys3546Ter)
c.790A>T (p.Lys264Ter)
c.1992A>T
c.24A>T
c.1733A>T
c.4127A>T (n.4127A>T)
c.10510A>T (p.Lys3504Ter)
n.4439A>T
c.10639A>T (p.Lys3547Ter)
2g.73572514A>CCA347284375ALMS1c.10256A>C (p.Lys3419Thr)
c.3342A>C
c.7537A>C
c.4703A>C (p.Lys1568Thr)
c.7582A>C
c.10637A>C (p.Lys3546Thr)
c.791A>C (p.Lys264Thr)
c.1993A>C
c.25A>C
c.1734A>C
c.4128A>C (n.4128A>C)
c.10511A>C (p.Lys3504Thr)
n.4440A>C
c.10640A>C (p.Lys3547Thr)
2g.73572514A>GCA347284379ALMS1c.10256A>G (p.Lys3419Arg)
c.3342A>G
c.7537A>G
c.4703A>G (p.Lys1568Arg)
c.7582A>G
c.10637A>G (p.Lys3546Arg)
c.791A>G (p.Lys264Arg)
c.1993A>G
c.25A>G
c.1734A>G
c.4128A>G (n.4128A>G)
c.10511A>G (p.Lys3504Arg)
n.4440A>G
c.10640A>G (p.Lys3547Arg)
2g.73572514A>TCA347284382ALMS1c.10256A>T (p.Lys3419Met)
c.3342A>T
c.7537A>T
c.4703A>T (p.Lys1568Met)
c.7582A>T
c.10637A>T (p.Lys3546Met)
c.791A>T (p.Lys264Met)
c.1993A>T
c.25A>T
c.1734A>T
c.4128A>T (n.4128A>T)
c.10511A>T (p.Lys3504Met)
n.4440A>T
c.10640A>T (p.Lys3547Met)
2g.73572515G>ACA427024068ALMS1c.10257G>A (p.Lys3419=)
c.3343G>A
c.7538G>A
c.4704G>A (p.Lys1568=)
c.7583G>A
c.10638G>A (p.Lys3546=)
c.792G>A (p.Lys264=)
c.1994G>A
c.26G>A
c.1735G>A
c.4129G>A (n.4129G>A)
c.10512G>A (p.Lys3504=)
n.4441G>A
c.10641G>A (p.Lys3547=)
 gnomAD v4
2g.73572515G>CCA347284389ALMS1c.10257G>C (p.Lys3419Asn)
c.3343G>C
c.7538G>C
c.4704G>C (p.Lys1568Asn)
c.7583G>C
c.10638G>C (p.Lys3546Asn)
c.792G>C (p.Lys264Asn)
c.1994G>C
c.26G>C
c.1735G>C
c.4129G>C (n.4129G>C)
c.10512G>C (p.Lys3504Asn)
n.4441G>C
c.10641G>C (p.Lys3547Asn)
 gnomAD v4
2g.73572515G>TCA347284393ALMS1c.10257G>T (p.Lys3419Asn)
c.3343G>T
c.7538G>T
c.4704G>T (p.Lys1568Asn)
c.7583G>T
c.10638G>T (p.Lys3546Asn)
c.792G>T (p.Lys264Asn)
c.1994G>T
c.26G>T
c.1735G>T
c.4129G>T (n.4129G>T)
c.10512G>T (p.Lys3504Asn)
n.4441G>T
c.10641G>T (p.Lys3547Asn)
2g.73572516A=CA1261021246ALMS1c.10258A= (p.Ser3420=)
c.3344A=
c.7539A=
c.4705A= (p.Ser1569=)
c.7584A=
c.10639A= (p.Ser3547=)
c.793A= (p.Ser265=)
c.1995A=
c.27A=
c.1736A=
c.4130A= (n.4130A=)
c.10513A= (p.Ser3505=)
n.4442A=
c.10642A= (p.Ser3548=)
2g.73572516A>CCA347284398ALMS1c.10258A>C (p.Ser3420Arg)
c.3344A>C
c.7539A>C
c.4705A>C (p.Ser1569Arg)
c.7584A>C
c.10639A>C (p.Ser3547Arg)
c.793A>C (p.Ser265Arg)
c.1995A>C
c.27A>C
c.1736A>C
c.4130A>C (n.4130A>C)
c.10513A>C (p.Ser3505Arg)
n.4442A>C
c.10642A>C (p.Ser3548Arg)
2g.73572516A>GCA347284401ALMS1c.10258A>G (p.Ser3420Gly)
c.3344A>G
c.7539A>G
c.4705A>G (p.Ser1569Gly)
c.7584A>G
c.10639A>G (p.Ser3547Gly)
c.793A>G (p.Ser265Gly)
c.1995A>G
c.27A>G
c.1736A>G
c.4130A>G (n.4130A>G)
c.10513A>G (p.Ser3505Gly)
n.4442A>G
c.10642A>G (p.Ser3548Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.73572516A>TCA347284404ALMS1c.10258A>T (p.Ser3420Cys)
c.3344A>T
c.7539A>T
c.4705A>T (p.Ser1569Cys)
c.7584A>T
c.10639A>T (p.Ser3547Cys)
c.793A>T (p.Ser265Cys)
c.1995A>T
c.27A>T
c.1736A>T
c.4130A>T (n.4130A>T)
c.10513A>T (p.Ser3505Cys)
n.4442A>T
c.10642A>T (p.Ser3548Cys)
2g.73572517G>ACA347284413ALMS1c.10259G>A (p.Ser3420Asn)
c.3345G>A
c.7540G>A
c.4706G>A (p.Ser1569Asn)
c.7585G>A
c.10640G>A (p.Ser3547Asn)
c.794G>A (p.Ser265Asn)
c.1996G>A
c.28G>A
c.1737G>A
c.4131G>A (n.4131G>A)
c.10514G>A (p.Ser3505Asn)
n.4443G>A
c.10643G>A (p.Ser3548Asn)
2g.73572517G>CCA347284416ALMS1c.10259G>C (p.Ser3420Thr)
c.3345G>C
c.7540G>C
c.4706G>C (p.Ser1569Thr)
c.7585G>C
c.10640G>C (p.Ser3547Thr)
c.794G>C (p.Ser265Thr)
c.1996G>C
c.28G>C
c.1737G>C
c.4131G>C (n.4131G>C)
c.10514G>C (p.Ser3505Thr)
n.4443G>C
c.10643G>C (p.Ser3548Thr)
2g.73572517G>TCA347284410ALMS1c.10259G>T (p.Ser3420Ile)
c.3345G>T
c.7540G>T
c.4706G>T (p.Ser1569Ile)
c.7585G>T
c.10640G>T (p.Ser3547Ile)
c.794G>T (p.Ser265Ile)
c.1996G>T
c.28G>T
c.1737G>T
c.4131G>T (n.4131G>T)
c.10514G>T (p.Ser3505Ile)
n.4443G>T
c.10643G>T (p.Ser3548Ile)
2g.73572518C>ACA347284418ALMS1c.10260C>A (p.Ser3420Arg)
c.3346C>A
c.7541C>A
c.4707C>A (p.Ser1569Arg)
c.7586C>A
c.10641C>A (p.Ser3547Arg)
c.795C>A (p.Ser265Arg)
c.1997C>A
c.29C>A
c.1738C>A
c.4132C>A (n.4132C>A)
c.10515C>A (p.Ser3505Arg)
n.4444C>A
c.10644C>A (p.Ser3548Arg)
2g.73572518C=CA1261021247ALMS1c.10260C= (p.Ser3420=)
c.3346C=
c.7541C=
c.4707C= (p.Ser1569=)
c.7586C=
c.10641C= (p.Ser3547=)
c.795C= (p.Ser265=)
c.1997C=
c.29C=
c.1738C=
c.4132C= (n.4132C=)
c.10515C= (p.Ser3505=)
n.4444C=
c.10644C= (p.Ser3548=)
2g.73572518C>GCA347284419ALMS1c.10260C>G (p.Ser3420Arg)
c.3346C>G
c.7541C>G
c.4707C>G (p.Ser1569Arg)
c.7586C>G
c.10641C>G (p.Ser3547Arg)
c.795C>G (p.Ser265Arg)
c.1997C>G
c.29C>G
c.1738C>G
c.4132C>G (n.4132C>G)
c.10515C>G (p.Ser3505Arg)
n.4444C>G
c.10644C>G (p.Ser3548Arg)
 ClinVar dbSNP gnomAD v4
2g.73572518C>TCA50386318ALMS1c.10260C>T (p.Ser3420=)
c.3346C>T
c.7541C>T
c.4707C>T (p.Ser1569=)
c.7586C>T
c.10641C>T (p.Ser3547=)
c.795C>T (p.Ser265=)
c.1997C>T
c.29C>T
c.1738C>T
c.4132C>T (n.4132C>T)
c.10515C>T (p.Ser3505=)
n.4444C>T
c.10644C>T (p.Ser3548=)
 ClinVar dbSNP gnomAD v4
2g.73572519C>ACA347284425ALMS1c.10261C>A (p.Leu3421Ile)
c.3347C>A
c.7542C>A
c.4708C>A (p.Leu1570Ile)
c.7587C>A
c.10642C>A (p.Leu3548Ile)
c.796C>A (p.Leu266Ile)
c.1998C>A
c.30C>A
c.1739C>A
c.4133C>A (n.4133C>A)
c.10516C>A (p.Leu3506Ile)
n.4445C>A
c.10645C>A (p.Leu3549Ile)
2g.73572519C=CA1261021248ALMS1c.10261C= (p.Leu3421=)
c.3347C=
c.7542C=
c.4708C= (p.Leu1570=)
c.7587C=
c.10642C= (p.Leu3548=)
c.796C= (p.Leu266=)
c.1998C=
c.30C=
c.1739C=
c.4133C= (n.4133C=)
c.10516C= (p.Leu3506=)
n.4445C=
c.10645C= (p.Leu3549=)
2g.73572519C>GCA347284428ALMS1c.10261C>G (p.Leu3421Val)
c.3347C>G
c.7542C>G
c.4708C>G (p.Leu1570Val)
c.7587C>G
c.10642C>G (p.Leu3548Val)
c.796C>G (p.Leu266Val)
c.1998C>G
c.30C>G
c.1739C>G
c.4133C>G (n.4133C>G)
c.10516C>G (p.Leu3506Val)
n.4445C>G
c.10645C>G (p.Leu3549Val)
2g.73572519C>TCA50386332ALMS1c.10261C>T (p.Leu3421Phe)
c.3347C>T
c.7542C>T
c.4708C>T (p.Leu1570Phe)
c.7587C>T
c.10642C>T (p.Leu3548Phe)
c.796C>T (p.Leu266Phe)
c.1998C>T
c.30C>T
c.1739C>T
c.4133C>T (n.4133C>T)
c.10516C>T (p.Leu3506Phe)
n.4445C>T
c.10645C>T (p.Leu3549Phe)
 dbSNP gnomAD v4
2g.73572520T>ACA347284441ALMS1c.10262T>A (p.Leu3421His)
c.3348T>A
c.7543T>A
c.4709T>A (p.Leu1570His)
c.7588T>A
c.10643T>A (p.Leu3548His)
c.797T>A (p.Leu266His)
c.1999T>A
c.31T>A
c.1740T>A
c.4134T>A (n.4134T>A)
c.10517T>A (p.Leu3506His)
n.4446T>A
c.10646T>A (p.Leu3549His)
 ClinVar dbSNP
2g.73572520T>CCA347284435ALMS1c.10262T>C (p.Leu3421Pro)
c.3348T>C
c.7543T>C
c.4709T>C (p.Leu1570Pro)
c.7588T>C
c.10643T>C (p.Leu3548Pro)
c.797T>C (p.Leu266Pro)
c.1999T>C
c.31T>C
c.1740T>C
c.4134T>C (n.4134T>C)
c.10517T>C (p.Leu3506Pro)
n.4446T>C
c.10646T>C (p.Leu3549Pro)
2g.73572520T>GCA347284439ALMS1c.10262T>G (p.Leu3421Arg)
c.3348T>G
c.7543T>G
c.4709T>G (p.Leu1570Arg)
c.7588T>G
c.10643T>G (p.Leu3548Arg)
c.797T>G (p.Leu266Arg)
c.1999T>G
c.31T>G
c.1740T>G
c.4134T>G (n.4134T>G)
c.10517T>G (p.Leu3506Arg)
n.4446T>G
c.10646T>G (p.Leu3549Arg)
2g.73572520T=CA1261021249ALMS1c.10262T= (p.Leu3421=)
c.3348T=
c.7543T=
c.4709T= (p.Leu1570=)
c.7588T=
c.10643T= (p.Leu3548=)
c.797T= (p.Leu266=)
c.1999T=
c.31T=
c.1740T=
c.4134T= (n.4134T=)
c.10517T= (p.Leu3506=)
n.4446T=
c.10646T= (p.Leu3549=)
2g.73572521C>ACA427024074ALMS1c.10263C>A (p.Leu3421=)
c.3349C>A
c.7544C>A
c.4710C>A (p.Leu1570=)
c.7589C>A
c.10644C>A (p.Leu3548=)
c.798C>A (p.Leu266=)
c.2000C>A
c.32C>A
c.1741C>A
c.4135C>A (n.4135C>A)
c.10518C>A (p.Leu3506=)
n.4447C>A
c.10647C>A (p.Leu3549=)
2g.73572521C=CA1261021250ALMS1c.10263C= (p.Leu3421=)
c.3349C=
c.7544C=
c.4710C= (p.Leu1570=)
c.7589C=
c.10644C= (p.Leu3548=)
c.798C= (p.Leu266=)
c.2000C=
c.32C=
c.1741C=
c.4135C= (n.4135C=)
c.10518C= (p.Leu3506=)
n.4447C=
c.10647C= (p.Leu3549=)
2g.73572521C>GCA427024075ALMS1c.10263C>G (p.Leu3421=)
c.3349C>G
c.7544C>G
c.4710C>G (p.Leu1570=)
c.7589C>G
c.10644C>G (p.Leu3548=)
c.798C>G (p.Leu266=)
c.2000C>G
c.32C>G
c.1741C>G
c.4135C>G (n.4135C>G)
c.10518C>G (p.Leu3506=)
n.4447C>G
c.10647C>G (p.Leu3549=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572521C>TCA427024076ALMS1c.10263C>T (p.Leu3421=)
c.3349C>T
c.7544C>T
c.4710C>T (p.Leu1570=)
c.7589C>T
c.10644C>T (p.Leu3548=)
c.798C>T (p.Leu266=)
c.2000C>T
c.32C>T
c.1741C>T
c.4135C>T (n.4135C>T)
c.10518C>T (p.Leu3506=)
n.4447C>T
c.10647C>T (p.Leu3549=)
2g.73572522A>CCA347284444ALMS1c.10264A>C (p.Ser3422Arg)
c.3350A>C
c.7545A>C
c.4711A>C (p.Ser1571Arg)
c.7590A>C
c.10645A>C (p.Ser3549Arg)
c.799A>C (p.Ser267Arg)
c.2001A>C
c.33A>C
c.1742A>C
c.4136A>C (n.4136A>C)
c.10519A>C (p.Ser3507Arg)
n.4448A>C
c.10648A>C (p.Ser3550Arg)
2g.73572522A>GCA347284446ALMS1c.10264A>G (p.Ser3422Gly)
c.3350A>G
c.7545A>G
c.4711A>G (p.Ser1571Gly)
c.7590A>G
c.10645A>G (p.Ser3549Gly)
c.799A>G (p.Ser267Gly)
c.2001A>G
c.33A>G
c.1742A>G
c.4136A>G (n.4136A>G)
c.10519A>G (p.Ser3507Gly)
n.4448A>G
c.10648A>G (p.Ser3550Gly)
2g.73572522A>TCA347284448ALMS1c.10264A>T (p.Ser3422Cys)
c.3350A>T
c.7545A>T
c.4711A>T (p.Ser1571Cys)
c.7590A>T
c.10645A>T (p.Ser3549Cys)
c.799A>T (p.Ser267Cys)
c.2001A>T
c.33A>T
c.1742A>T
c.4136A>T (n.4136A>T)
c.10519A>T (p.Ser3507Cys)
n.4448A>T
c.10648A>T (p.Ser3550Cys)
2g.73572523G>ACA347284451ALMS1c.10265G>A (p.Ser3422Asn)
c.3351G>A
c.7546G>A
c.4712G>A (p.Ser1571Asn)
c.7591G>A
c.10646G>A (p.Ser3549Asn)
c.800G>A (p.Ser267Asn)
c.2002G>A
c.34G>A
c.1743G>A
c.4137G>A (n.4137G>A)
c.10520G>A (p.Ser3507Asn)
n.4449G>A
c.10649G>A (p.Ser3550Asn)
2g.73572523G>CCA347284453ALMS1c.10265G>C (p.Ser3422Thr)
c.3351G>C
c.7546G>C
c.4712G>C (p.Ser1571Thr)
c.7591G>C
c.10646G>C (p.Ser3549Thr)
c.800G>C (p.Ser267Thr)
c.2002G>C
c.34G>C
c.1743G>C
c.4137G>C (n.4137G>C)
c.10520G>C (p.Ser3507Thr)
n.4449G>C
c.10649G>C (p.Ser3550Thr)
2g.73572523G>TCA347284456ALMS1c.10265G>T (p.Ser3422Ile)
c.3351G>T
c.7546G>T
c.4712G>T (p.Ser1571Ile)
c.7591G>T
c.10646G>T (p.Ser3549Ile)
c.800G>T (p.Ser267Ile)
c.2002G>T
c.34G>T
c.1743G>T
c.4137G>T (n.4137G>T)
c.10520G>T (p.Ser3507Ile)
n.4449G>T
c.10649G>T (p.Ser3550Ile)
2g.73572524C>ACA347284461ALMS1c.10266C>A (p.Ser3422Arg)
c.3352C>A
c.7547C>A
c.4713C>A (p.Ser1571Arg)
c.7592C>A
c.10647C>A (p.Ser3549Arg)
c.801C>A (p.Ser267Arg)
c.2003C>A
c.35C>A
c.1744C>A
c.4138C>A (n.4138C>A)
c.10521C>A (p.Ser3507Arg)
n.4450C>A
c.10650C>A (p.Ser3550Arg)
2g.73572524C=CA1261021252ALMS1c.10266C= (p.Ser3422=)
c.3352C=
c.7547C=
c.4713C= (p.Ser1571=)
c.7592C=
c.10647C= (p.Ser3549=)
c.801C= (p.Ser267=)
c.2003C=
c.35C=
c.1744C=
c.4138C= (n.4138C=)
c.10521C= (p.Ser3507=)
n.4450C=
c.10650C= (p.Ser3550=)
2g.73572524C>GCA347284463ALMS1c.10266C>G (p.Ser3422Arg)
c.3352C>G
c.7547C>G
c.4713C>G (p.Ser1571Arg)
c.7592C>G
c.10647C>G (p.Ser3549Arg)
c.801C>G (p.Ser267Arg)
c.2003C>G
c.35C>G
c.1744C>G
c.4138C>G (n.4138C>G)
c.10521C>G (p.Ser3507Arg)
n.4450C>G
c.10650C>G (p.Ser3550Arg)
2g.73572524C>TCA50386340ALMS1c.10266C>T (p.Ser3422=)
c.3352C>T
c.7547C>T
c.4713C>T (p.Ser1571=)
c.7592C>T
c.10647C>T (p.Ser3549=)
c.801C>T (p.Ser267=)
c.2003C>T
c.35C>T
c.1744C>T
c.4138C>T (n.4138C>T)
c.10521C>T (p.Ser3507=)
n.4450C>T
c.10650C>T (p.Ser3550=)
 dbSNP gnomAD v3 gnomAD v4
2g.73572525A=CA1261021254ALMS1c.10267A= (p.Ile3423=)
c.3353A=
c.7548A=
c.4714A= (p.Ile1572=)
c.7593A=
c.10648A= (p.Ile3550=)
c.802A= (p.Ile268=)
c.2004A=
c.36A=
c.1745A=
c.4139A= (n.4139A=)
c.10522A= (p.Ile3508=)
n.4451A=
c.10651A= (p.Ile3551=)
2g.73572525A>CCA1715039ALMS1c.10267A>C (p.Ile3423Leu)
c.3353A>C
c.7548A>C
c.4714A>C (p.Ile1572Leu)
c.7593A>C
c.10648A>C (p.Ile3550Leu)
c.802A>C (p.Ile268Leu)
c.2004A>C
c.36A>C
c.1745A>C
c.4139A>C (n.4139A>C)
c.10522A>C (p.Ile3508Leu)
n.4451A>C
c.10651A>C (p.Ile3551Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched