Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.90716554C>ACA360397216ADGRV1c.9272C>A (p.Ala3091Asp)
c.265+40345C>A (n.265+40345C>A)
n.4731C>A
c.3079C>A
n.2416C>A
c.4001C>A
c.1969C>A
n.9285C>A
c.9269C>A (p.Ala3090Asp)
c.9191C>A (p.Ala3064Asp)
c.6575C>A (p.Ala2192Asp)
n.272-745G>T
c.9293C>A (p.Ala3098Asp)
c.9290C>A (p.Ala3097Asp)
c.9212C>A (p.Ala3071Asp)
c.9197C>A (p.Ala3066Asp)
c.2411C>A (p.Ala804Asp)
c.2390C>A (p.Ala797Asp)
n.2523-745G>T
n.9288C>A
dbSNP gnomAD v2 gnomAD v4
5g.90716554C=CA1562870590ADGRV1c.9272C= (p.Ala3091=)
c.265+40345C= (n.265+40345C=)
n.4731C=
c.3079C=
n.2416C=
c.4001C=
c.1969C=
n.9285C=
c.9269C= (p.Ala3090=)
c.9191C= (p.Ala3064=)
c.6575C= (p.Ala2192=)
n.272-745G=
c.9293C= (p.Ala3098=)
c.9290C= (p.Ala3097=)
c.9212C= (p.Ala3071=)
c.9197C= (p.Ala3066=)
c.2411C= (p.Ala804=)
c.2390C= (p.Ala797=)
n.2523-745G=
n.9288C=
5g.90716554C>GCA360397218ADGRV1c.9272C>G (p.Ala3091Gly)
c.265+40345C>G (n.265+40345C>G)
n.4731C>G
c.3079C>G
n.2416C>G
c.4001C>G
c.1969C>G
n.9285C>G
c.9269C>G (p.Ala3090Gly)
c.9191C>G (p.Ala3064Gly)
c.6575C>G (p.Ala2192Gly)
n.272-745G>C
c.9293C>G (p.Ala3098Gly)
c.9290C>G (p.Ala3097Gly)
c.9212C>G (p.Ala3071Gly)
c.9197C>G (p.Ala3066Gly)
c.2411C>G (p.Ala804Gly)
c.2390C>G (p.Ala797Gly)
n.2523-745G>C
n.9288C>G
5g.90716554C>TCA360397220ADGRV1c.9272C>T (p.Ala3091Val)
c.265+40345C>T (n.265+40345C>T)
n.4731C>T
c.3079C>T
n.2416C>T
c.4001C>T
c.1969C>T
n.9285C>T
c.9269C>T (p.Ala3090Val)
c.9191C>T (p.Ala3064Val)
c.6575C>T (p.Ala2192Val)
n.272-745G>A
c.9293C>T (p.Ala3098Val)
c.9290C>T (p.Ala3097Val)
c.9212C>T (p.Ala3071Val)
c.9197C>T (p.Ala3066Val)
c.2411C>T (p.Ala804Val)
c.2390C>T (p.Ala797Val)
n.2523-745G>A
n.9288C>T
5g.90716555T>ACA445413213ADGRV1c.9273T>A (p.Ala3091=)
c.265+40346T>A (n.265+40346T>A)
n.4732T>A
c.3080T>A
n.2417T>A
c.4002T>A
c.1970T>A
n.9286T>A
c.9270T>A (p.Ala3090=)
c.9192T>A (p.Ala3064=)
c.6576T>A (p.Ala2192=)
n.272-746A>T
c.9294T>A (p.Ala3098=)
c.9291T>A (p.Ala3097=)
c.9213T>A (p.Ala3071=)
c.9198T>A (p.Ala3066=)
c.2412T>A (p.Ala804=)
c.2391T>A (p.Ala797=)
n.2523-746A>T
n.9289T>A
5g.90716555T>CCA445413214ADGRV1c.9273T>C (p.Ala3091=)
c.265+40346T>C (n.265+40346T>C)
n.4732T>C
c.3080T>C
n.2417T>C
c.4002T>C
c.1970T>C
n.9286T>C
c.9270T>C (p.Ala3090=)
c.9192T>C (p.Ala3064=)
c.6576T>C (p.Ala2192=)
n.272-746A>G
c.9294T>C (p.Ala3098=)
c.9291T>C (p.Ala3097=)
c.9213T>C (p.Ala3071=)
c.9198T>C (p.Ala3066=)
c.2412T>C (p.Ala804=)
c.2391T>C (p.Ala797=)
n.2523-746A>G
n.9289T>C
gnomAD v4
5g.90716555T>GCA445413216ADGRV1c.9273T>G (p.Ala3091=)
c.265+40346T>G (n.265+40346T>G)
n.4732T>G
c.3080T>G
n.2417T>G
c.4002T>G
c.1970T>G
n.9286T>G
c.9270T>G (p.Ala3090=)
c.9192T>G (p.Ala3064=)
c.6576T>G (p.Ala2192=)
n.272-746A>C
c.9294T>G (p.Ala3098=)
c.9291T>G (p.Ala3097=)
c.9213T>G (p.Ala3071=)
c.9198T>G (p.Ala3066=)
c.2412T>G (p.Ala804=)
c.2391T>G (p.Ala797=)
n.2523-746A>C
n.9289T>G
5g.90716556C>ACA360397221ADGRV1c.9274C>A (p.Leu3092Ile)
c.265+40347C>A (n.265+40347C>A)
n.4733C>A
c.3081C>A
n.2418C>A
c.4003C>A
c.1971C>A
n.9287C>A
c.9271C>A (p.Leu3091Ile)
c.9193C>A (p.Leu3065Ile)
c.6577C>A (p.Leu2193Ile)
n.272-747G>T
c.9295C>A (p.Leu3099Ile)
c.9292C>A (p.Leu3098Ile)
c.9214C>A (p.Leu3072Ile)
c.9199C>A (p.Leu3067Ile)
c.2413C>A (p.Leu805Ile)
c.2392C>A (p.Leu798Ile)
n.2523-747G>T
n.9290C>A
5g.90716556C=CA1562870591ADGRV1c.9274C= (p.Leu3092=)
c.265+40347C= (n.265+40347C=)
n.4733C=
c.3081C=
n.2418C=
c.4003C=
c.1971C=
n.9287C=
c.9271C= (p.Leu3091=)
c.9193C= (p.Leu3065=)
c.6577C= (p.Leu2193=)
n.272-747G=
c.9295C= (p.Leu3099=)
c.9292C= (p.Leu3098=)
c.9214C= (p.Leu3072=)
c.9199C= (p.Leu3067=)
c.2413C= (p.Leu805=)
c.2392C= (p.Leu798=)
n.2523-747G=
n.9290C=
5g.90716556C>GCA360397223ADGRV1c.9274C>G (p.Leu3092Val)
c.265+40347C>G (n.265+40347C>G)
n.4733C>G
c.3081C>G
n.2418C>G
c.4003C>G
c.1971C>G
n.9287C>G
c.9271C>G (p.Leu3091Val)
c.9193C>G (p.Leu3065Val)
c.6577C>G (p.Leu2193Val)
n.272-747G>C
c.9295C>G (p.Leu3099Val)
c.9292C>G (p.Leu3098Val)
c.9214C>G (p.Leu3072Val)
c.9199C>G (p.Leu3067Val)
c.2413C>G (p.Leu805Val)
c.2392C>G (p.Leu798Val)
n.2523-747G>C
n.9290C>G
dbSNP gnomAD v2
5g.90716556C>TCA360397224ADGRV1c.9274C>T (p.Leu3092Phe)
c.265+40347C>T (n.265+40347C>T)
n.4733C>T
c.3081C>T
n.2418C>T
c.4003C>T
c.1971C>T
n.9287C>T
c.9271C>T (p.Leu3091Phe)
c.9193C>T (p.Leu3065Phe)
c.6577C>T (p.Leu2193Phe)
n.272-747G>A
c.9295C>T (p.Leu3099Phe)
c.9292C>T (p.Leu3098Phe)
c.9214C>T (p.Leu3072Phe)
c.9199C>T (p.Leu3067Phe)
c.2413C>T (p.Leu805Phe)
c.2392C>T (p.Leu798Phe)
n.2523-747G>A
n.9290C>T
dbSNP
5g.90716557T>ACA360397227ADGRV1c.9275T>A (p.Leu3092His)
c.265+40348T>A (n.265+40348T>A)
n.4734T>A
c.3082T>A
n.2419T>A
c.4004T>A
c.1972T>A
n.9288T>A
c.9272T>A (p.Leu3091His)
c.9194T>A (p.Leu3065His)
c.6578T>A (p.Leu2193His)
n.272-748A>T
c.9296T>A (p.Leu3099His)
c.9293T>A (p.Leu3098His)
c.9215T>A (p.Leu3072His)
c.9200T>A (p.Leu3067His)
c.2414T>A (p.Leu805His)
c.2393T>A (p.Leu798His)
n.2523-748A>T
n.9291T>A
5g.90716557T>CCA360397228ADGRV1c.9275T>C (p.Leu3092Pro)
c.265+40348T>C (n.265+40348T>C)
n.4734T>C
c.3082T>C
n.2419T>C
c.4004T>C
c.1972T>C
n.9288T>C
c.9272T>C (p.Leu3091Pro)
c.9194T>C (p.Leu3065Pro)
c.6578T>C (p.Leu2193Pro)
n.272-748A>G
c.9296T>C (p.Leu3099Pro)
c.9293T>C (p.Leu3098Pro)
c.9215T>C (p.Leu3072Pro)
c.9200T>C (p.Leu3067Pro)
c.2414T>C (p.Leu805Pro)
c.2393T>C (p.Leu798Pro)
n.2523-748A>G
n.9291T>C
5g.90716557T>GCA360397225ADGRV1c.9275T>G (p.Leu3092Arg)
c.265+40348T>G (n.265+40348T>G)
n.4734T>G
c.3082T>G
n.2419T>G
c.4004T>G
c.1972T>G
n.9288T>G
c.9272T>G (p.Leu3091Arg)
c.9194T>G (p.Leu3065Arg)
c.6578T>G (p.Leu2193Arg)
n.272-748A>C
c.9296T>G (p.Leu3099Arg)
c.9293T>G (p.Leu3098Arg)
c.9215T>G (p.Leu3072Arg)
c.9200T>G (p.Leu3067Arg)
c.2414T>G (p.Leu805Arg)
c.2393T>G (p.Leu798Arg)
n.2523-748A>C
n.9291T>G
5g.90716558C>ACA445413223ADGRV1c.9276C>A (p.Leu3092=)
c.265+40349C>A (n.265+40349C>A)
n.4735C>A
c.3083C>A
n.2420C>A
c.4005C>A
c.1973C>A
n.9289C>A
c.9273C>A (p.Leu3091=)
c.9195C>A (p.Leu3065=)
c.6579C>A (p.Leu2193=)
n.272-749G>T
c.9297C>A (p.Leu3099=)
c.9294C>A (p.Leu3098=)
c.9216C>A (p.Leu3072=)
c.9201C>A (p.Leu3067=)
c.2415C>A (p.Leu805=)
c.2394C>A (p.Leu798=)
n.2523-749G>T
n.9292C>A
5g.90716558C=CA1562870592ADGRV1c.9276C= (p.Leu3092=)
c.265+40349C= (n.265+40349C=)
n.4735C=
c.3083C=
n.2420C=
c.4005C=
c.1973C=
n.9289C=
c.9273C= (p.Leu3091=)
c.9195C= (p.Leu3065=)
c.6579C= (p.Leu2193=)
n.272-749G=
c.9297C= (p.Leu3099=)
c.9294C= (p.Leu3098=)
c.9216C= (p.Leu3072=)
c.9201C= (p.Leu3067=)
c.2415C= (p.Leu805=)
c.2394C= (p.Leu798=)
n.2523-749G=
n.9292C=
5g.90716558C>GCA445413225ADGRV1c.9276C>G (p.Leu3092=)
c.265+40349C>G (n.265+40349C>G)
n.4735C>G
c.3083C>G
n.2420C>G
c.4005C>G
c.1973C>G
n.9289C>G
c.9273C>G (p.Leu3091=)
c.9195C>G (p.Leu3065=)
c.6579C>G (p.Leu2193=)
n.272-749G>C
c.9297C>G (p.Leu3099=)
c.9294C>G (p.Leu3098=)
c.9216C>G (p.Leu3072=)
c.9201C>G (p.Leu3067=)
c.2415C>G (p.Leu805=)
c.2394C>G (p.Leu798=)
n.2523-749G>C
n.9292C>G
dbSNP gnomAD v4
5g.90716558C>TCA445413226ADGRV1c.9276C>T (p.Leu3092=)
c.265+40349C>T (n.265+40349C>T)
n.4735C>T
c.3083C>T
n.2420C>T
c.4005C>T
c.1973C>T
n.9289C>T
c.9273C>T (p.Leu3091=)
c.9195C>T (p.Leu3065=)
c.6579C>T (p.Leu2193=)
n.272-749G>A
c.9297C>T (p.Leu3099=)
c.9294C>T (p.Leu3098=)
c.9216C>T (p.Leu3072=)
c.9201C>T (p.Leu3067=)
c.2415C>T (p.Leu805=)
c.2394C>T (p.Leu798=)
n.2523-749G>A
n.9292C>T
5g.90716559T>ACA360397230ADGRV1c.9277T>A (p.Tyr3093Asn)
c.265+40350T>A (n.265+40350T>A)
n.4736T>A
c.3084T>A
n.2421T>A
c.4006T>A
c.1974T>A
n.9290T>A
c.9274T>A (p.Tyr3092Asn)
c.9196T>A (p.Tyr3066Asn)
c.6580T>A (p.Tyr2194Asn)
n.272-750A>T
c.9298T>A (p.Tyr3100Asn)
c.9295T>A (p.Tyr3099Asn)
c.9217T>A (p.Tyr3073Asn)
c.9202T>A (p.Tyr3068Asn)
c.2416T>A (p.Tyr806Asn)
c.2395T>A (p.Tyr799Asn)
n.2523-750A>T
n.9293T>A
5g.90716559T>CCA360397231ADGRV1c.9277T>C (p.Tyr3093His)
c.265+40350T>C (n.265+40350T>C)
n.4736T>C
c.3084T>C
n.2421T>C
c.4006T>C
c.1974T>C
n.9290T>C
c.9274T>C (p.Tyr3092His)
c.9196T>C (p.Tyr3066His)
c.6580T>C (p.Tyr2194His)
n.272-750A>G
c.9298T>C (p.Tyr3100His)
c.9295T>C (p.Tyr3099His)
c.9217T>C (p.Tyr3073His)
c.9202T>C (p.Tyr3068His)
c.2416T>C (p.Tyr806His)
c.2395T>C (p.Tyr799His)
n.2523-750A>G
n.9293T>C
5g.90716559T>GCA360397233ADGRV1c.9277T>G (p.Tyr3093Asp)
c.265+40350T>G (n.265+40350T>G)
n.4736T>G
c.3084T>G
n.2421T>G
c.4006T>G
c.1974T>G
n.9290T>G
c.9274T>G (p.Tyr3092Asp)
c.9196T>G (p.Tyr3066Asp)
c.6580T>G (p.Tyr2194Asp)
n.272-750A>C
c.9298T>G (p.Tyr3100Asp)
c.9295T>G (p.Tyr3099Asp)
c.9217T>G (p.Tyr3073Asp)
c.9202T>G (p.Tyr3068Asp)
c.2416T>G (p.Tyr806Asp)
c.2395T>G (p.Tyr799Asp)
n.2523-750A>C
n.9293T>G
5g.90716560A=CA1562870593ADGRV1c.9278A= (p.Tyr3093=)
c.265+40351A= (n.265+40351A=)
n.4737A=
c.3085A=
n.2422A=
c.4007A=
c.1975A=
n.9291A=
c.9275A= (p.Tyr3092=)
c.9197A= (p.Tyr3066=)
c.6581A= (p.Tyr2194=)
n.272-751T=
c.9299A= (p.Tyr3100=)
c.9296A= (p.Tyr3099=)
c.9218A= (p.Tyr3073=)
c.9203A= (p.Tyr3068=)
c.2417A= (p.Tyr806=)
c.2396A= (p.Tyr799=)
n.2523-751T=
n.9294A=
5g.90716560A>CCA360397235ADGRV1c.9278A>C (p.Tyr3093Ser)
c.265+40351A>C (n.265+40351A>C)
n.4737A>C
c.3085A>C
n.2422A>C
c.4007A>C
c.1975A>C
n.9291A>C
c.9275A>C (p.Tyr3092Ser)
c.9197A>C (p.Tyr3066Ser)
c.6581A>C (p.Tyr2194Ser)
n.272-751T>G
c.9299A>C (p.Tyr3100Ser)
c.9296A>C (p.Tyr3099Ser)
c.9218A>C (p.Tyr3073Ser)
c.9203A>C (p.Tyr3068Ser)
c.2417A>C (p.Tyr806Ser)
c.2396A>C (p.Tyr799Ser)
n.2523-751T>G
n.9294A>C
5g.90716560A>GCA360397236ADGRV1c.9278A>G (p.Tyr3093Cys)
c.265+40351A>G (n.265+40351A>G)
n.4737A>G
c.3085A>G
n.2422A>G
c.4007A>G
c.1975A>G
n.9291A>G
c.9275A>G (p.Tyr3092Cys)
c.9197A>G (p.Tyr3066Cys)
c.6581A>G (p.Tyr2194Cys)
n.272-751T>C
c.9299A>G (p.Tyr3100Cys)
c.9296A>G (p.Tyr3099Cys)
c.9218A>G (p.Tyr3073Cys)
c.9203A>G (p.Tyr3068Cys)
c.2417A>G (p.Tyr806Cys)
c.2396A>G (p.Tyr799Cys)
n.2523-751T>C
n.9294A>G
dbSNP gnomAD v2 gnomAD v4
5g.90716560A>TCA360397238ADGRV1c.9278A>T (p.Tyr3093Phe)
c.265+40351A>T (n.265+40351A>T)
n.4737A>T
c.3085A>T
n.2422A>T
c.4007A>T
c.1975A>T
n.9291A>T
c.9275A>T (p.Tyr3092Phe)
c.9197A>T (p.Tyr3066Phe)
c.6581A>T (p.Tyr2194Phe)
n.272-751T>A
c.9299A>T (p.Tyr3100Phe)
c.9296A>T (p.Tyr3099Phe)
c.9218A>T (p.Tyr3073Phe)
c.9203A>T (p.Tyr3068Phe)
c.2417A>T (p.Tyr806Phe)
c.2396A>T (p.Tyr799Phe)
n.2523-751T>A
n.9294A>T
5g.90716561C>ACA360397242ADGRV1c.9279C>A (p.Tyr3093Ter)
c.265+40352C>A (n.265+40352C>A)
n.4738C>A
c.3086C>A
n.2423C>A
c.4008C>A
c.1976C>A
n.9292C>A
c.9276C>A (p.Tyr3092Ter)
c.9198C>A (p.Tyr3066Ter)
c.6582C>A (p.Tyr2194Ter)
n.272-752G>T
c.9300C>A (p.Tyr3100Ter)
c.9297C>A (p.Tyr3099Ter)
c.9219C>A (p.Tyr3073Ter)
c.9204C>A (p.Tyr3068Ter)
c.2418C>A (p.Tyr806Ter)
c.2397C>A (p.Tyr799Ter)
n.2523-752G>T
n.9295C>A
gnomAD v4
5g.90716561C=CA1562870594ADGRV1c.9279C= (p.Tyr3093=)
c.265+40352C= (n.265+40352C=)
n.4738C=
c.3086C=
n.2423C=
c.4008C=
c.1976C=
n.9292C=
c.9276C= (p.Tyr3092=)
c.9198C= (p.Tyr3066=)
c.6582C= (p.Tyr2194=)
n.272-752G=
c.9300C= (p.Tyr3100=)
c.9297C= (p.Tyr3099=)
c.9219C= (p.Tyr3073=)
c.9204C= (p.Tyr3068=)
c.2418C= (p.Tyr806=)
c.2397C= (p.Tyr799=)
n.2523-752G=
n.9295C=
5g.90716561C>GCA360397240ADGRV1c.9279C>G (p.Tyr3093Ter)
c.265+40352C>G (n.265+40352C>G)
n.4738C>G
c.3086C>G
n.2423C>G
c.4008C>G
c.1976C>G
n.9292C>G
c.9276C>G (p.Tyr3092Ter)
c.9198C>G (p.Tyr3066Ter)
c.6582C>G (p.Tyr2194Ter)
n.272-752G>C
c.9300C>G (p.Tyr3100Ter)
c.9297C>G (p.Tyr3099Ter)
c.9219C>G (p.Tyr3073Ter)
c.9204C>G (p.Tyr3068Ter)
c.2418C>G (p.Tyr806Ter)
c.2397C>G (p.Tyr799Ter)
n.2523-752G>C
n.9295C>G
5g.90716561C>TCA3340476ADGRV1c.9279C>T (p.Tyr3093=)
c.265+40352C>T (n.265+40352C>T)
n.4738C>T
c.3086C>T
n.2423C>T
c.4008C>T
c.1976C>T
n.9292C>T
c.9276C>T (p.Tyr3092=)
c.9198C>T (p.Tyr3066=)
c.6582C>T (p.Tyr2194=)
n.272-752G>A
c.9300C>T (p.Tyr3100=)
c.9297C>T (p.Tyr3099=)
c.9219C>T (p.Tyr3073=)
c.9204C>T (p.Tyr3068=)
c.2418C>T (p.Tyr806=)
c.2397C>T (p.Tyr799=)
n.2523-752G>A
n.9295C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90716562G>ACA138265ADGRV1c.9280G>A (p.Val3094Ile)
c.265+40353G>A (n.265+40353G>A)
n.4739G>A
c.3087G>A
n.2424G>A
c.4009G>A
c.1977G>A
n.9293G>A
c.9277G>A (p.Val3093Ile)
c.9199G>A (p.Val3067Ile)
c.6583G>A (p.Val2195Ile)
n.272-753C>T
c.9301G>A (p.Val3101Ile)
c.9298G>A (p.Val3100Ile)
c.9220G>A (p.Val3074Ile)
c.9205G>A (p.Val3069Ile)
c.2419G>A (p.Val807Ile)
c.2398G>A (p.Val800Ile)
n.2523-753C>T
n.9296G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90716562G>CCA360397244ADGRV1c.9280G>C (p.Val3094Leu)
c.265+40353G>C (n.265+40353G>C)
n.4739G>C
c.3087G>C
n.2424G>C
c.4009G>C
c.1977G>C
n.9293G>C
c.9277G>C (p.Val3093Leu)
c.9199G>C (p.Val3067Leu)
c.6583G>C (p.Val2195Leu)
n.272-753C>G
c.9301G>C (p.Val3101Leu)
c.9298G>C (p.Val3100Leu)
c.9220G>C (p.Val3074Leu)
c.9205G>C (p.Val3069Leu)
c.2419G>C (p.Val807Leu)
c.2398G>C (p.Val800Leu)
n.2523-753C>G
n.9296G>C
5g.90716562G=CA1562870595ADGRV1c.9280G= (p.Val3094=)
c.265+40353G= (n.265+40353G=)
n.4739G=
c.3087G=
n.2424G=
c.4009G=
c.1977G=
n.9293G=
c.9277G= (p.Val3093=)
c.9199G= (p.Val3067=)
c.6583G= (p.Val2195=)
n.272-753C=
c.9301G= (p.Val3101=)
c.9298G= (p.Val3100=)
c.9220G= (p.Val3074=)
c.9205G= (p.Val3069=)
c.2419G= (p.Val807=)
c.2398G= (p.Val800=)
n.2523-753C=
n.9296G=
5g.90716562G>TCA360397245ADGRV1c.9280G>T (p.Val3094Phe)
c.265+40353G>T (n.265+40353G>T)
n.4739G>T
c.3087G>T
n.2424G>T
c.4009G>T
c.1977G>T
n.9293G>T
c.9277G>T (p.Val3093Phe)
c.9199G>T (p.Val3067Phe)
c.6583G>T (p.Val2195Phe)
n.272-753C>A
c.9301G>T (p.Val3101Phe)
c.9298G>T (p.Val3100Phe)
c.9220G>T (p.Val3074Phe)
c.9205G>T (p.Val3069Phe)
c.2419G>T (p.Val807Phe)
c.2398G>T (p.Val800Phe)
n.2523-753C>A
n.9296G>T
5g.90716563T>ACA360397247ADGRV1c.9281T>A (p.Val3094Asp)
c.265+40354T>A (n.265+40354T>A)
n.4740T>A
c.3088T>A
n.2425T>A
c.4010T>A
c.1978T>A
n.9294T>A
c.9278T>A (p.Val3093Asp)
c.9200T>A (p.Val3067Asp)
c.6584T>A (p.Val2195Asp)
n.272-754A>T
c.9302T>A (p.Val3101Asp)
c.9299T>A (p.Val3100Asp)
c.9221T>A (p.Val3074Asp)
c.9206T>A (p.Val3069Asp)
c.2420T>A (p.Val807Asp)
c.2399T>A (p.Val800Asp)
n.2523-754A>T
n.9297T>A
5g.90716563T>CCA360397248ADGRV1c.9281T>C (p.Val3094Ala)
c.265+40354T>C (n.265+40354T>C)
n.4740T>C
c.3088T>C
n.2425T>C
c.4010T>C
c.1978T>C
n.9294T>C
c.9278T>C (p.Val3093Ala)
c.9200T>C (p.Val3067Ala)
c.6584T>C (p.Val2195Ala)
n.272-754A>G
c.9302T>C (p.Val3101Ala)
c.9299T>C (p.Val3100Ala)
c.9221T>C (p.Val3074Ala)
c.9206T>C (p.Val3069Ala)
c.2420T>C (p.Val807Ala)
c.2399T>C (p.Val800Ala)
n.2523-754A>G
n.9297T>C
ClinVar gnomAD v4
5g.90716563T>GCA360397249ADGRV1c.9281T>G (p.Val3094Gly)
c.265+40354T>G (n.265+40354T>G)
n.4740T>G
c.3088T>G
n.2425T>G
c.4010T>G
c.1978T>G
n.9294T>G
c.9278T>G (p.Val3093Gly)
c.9200T>G (p.Val3067Gly)
c.6584T>G (p.Val2195Gly)
n.272-754A>C
c.9302T>G (p.Val3101Gly)
c.9299T>G (p.Val3100Gly)
c.9221T>G (p.Val3074Gly)
c.9206T>G (p.Val3069Gly)
c.2420T>G (p.Val807Gly)
c.2399T>G (p.Val800Gly)
n.2523-754A>C
n.9297T>G
5g.90716564C>ACA445413238ADGRV1c.9282C>A (p.Val3094=)
c.265+40355C>A (n.265+40355C>A)
n.4741C>A
c.3089C>A
n.2426C>A
c.4011C>A
c.1979C>A
n.9295C>A
c.9279C>A (p.Val3093=)
c.9201C>A (p.Val3067=)
c.6585C>A (p.Val2195=)
n.272-755G>T
c.9303C>A (p.Val3101=)
c.9300C>A (p.Val3100=)
c.9222C>A (p.Val3074=)
c.9207C>A (p.Val3069=)
c.2421C>A (p.Val807=)
c.2400C>A (p.Val800=)
n.2523-755G>T
n.9298C>A
5g.90716564C>GCA445413240ADGRV1c.9282C>G (p.Val3094=)
c.265+40355C>G (n.265+40355C>G)
n.4741C>G
c.3089C>G
n.2426C>G
c.4011C>G
c.1979C>G
n.9295C>G
c.9279C>G (p.Val3093=)
c.9201C>G (p.Val3067=)
c.6585C>G (p.Val2195=)
n.272-755G>C
c.9303C>G (p.Val3101=)
c.9300C>G (p.Val3100=)
c.9222C>G (p.Val3074=)
c.9207C>G (p.Val3069=)
c.2421C>G (p.Val807=)
c.2400C>G (p.Val800=)
n.2523-755G>C
n.9298C>G
5g.90716564C>TCA445413242ADGRV1c.9282C>T (p.Val3094=)
c.265+40355C>T (n.265+40355C>T)
n.4741C>T
c.3089C>T
n.2426C>T
c.4011C>T
c.1979C>T
n.9295C>T
c.9279C>T (p.Val3093=)
c.9201C>T (p.Val3067=)
c.6585C>T (p.Val2195=)
n.272-755G>A
c.9303C>T (p.Val3101=)
c.9300C>T (p.Val3100=)
c.9222C>T (p.Val3074=)
c.9207C>T (p.Val3069=)
c.2421C>T (p.Val807=)
c.2400C>T (p.Val800=)
n.2523-755G>A
n.9298C>T
5g.90716565C>ACA360397253ADGRV1c.9283C>A (p.Gln3095Lys)
c.265+40356C>A (n.265+40356C>A)
n.4742C>A
c.3090C>A
n.2427C>A
c.4012C>A
c.1980C>A
n.9296C>A
c.9280C>A (p.Gln3094Lys)
c.9202C>A (p.Gln3068Lys)
c.6586C>A (p.Gln2196Lys)
n.272-756G>T
c.9304C>A (p.Gln3102Lys)
c.9301C>A (p.Gln3101Lys)
c.9223C>A (p.Gln3075Lys)
c.9208C>A (p.Gln3070Lys)
c.2422C>A (p.Gln808Lys)
c.2401C>A (p.Gln801Lys)
n.2523-756G>T
n.9299C>A
5g.90716565C>GCA360397252ADGRV1c.9283C>G (p.Gln3095Glu)
c.265+40356C>G (n.265+40356C>G)
n.4742C>G
c.3090C>G
n.2427C>G
c.4012C>G
c.1980C>G
n.9296C>G
c.9280C>G (p.Gln3094Glu)
c.9202C>G (p.Gln3068Glu)
c.6586C>G (p.Gln2196Glu)
n.272-756G>C
c.9304C>G (p.Gln3102Glu)
c.9301C>G (p.Gln3101Glu)
c.9223C>G (p.Gln3075Glu)
c.9208C>G (p.Gln3070Glu)
c.2422C>G (p.Gln808Glu)
c.2401C>G (p.Gln801Glu)
n.2523-756G>C
n.9299C>G
5g.90716565C>TCA360397251ADGRV1c.9283C>T (p.Gln3095Ter)
c.265+40356C>T (n.265+40356C>T)
n.4742C>T
c.3090C>T
n.2427C>T
c.4012C>T
c.1980C>T
n.9296C>T
c.9280C>T (p.Gln3094Ter)
c.9202C>T (p.Gln3068Ter)
c.6586C>T (p.Gln2196Ter)
n.272-756G>A
c.9304C>T (p.Gln3102Ter)
c.9301C>T (p.Gln3101Ter)
c.9223C>T (p.Gln3075Ter)
c.9208C>T (p.Gln3070Ter)
c.2422C>T (p.Gln808Ter)
c.2401C>T (p.Gln801Ter)
n.2523-756G>A
n.9299C>T
5g.90716566A>CCA360397258ADGRV1c.9284A>C (p.Gln3095Pro)
c.265+40357A>C (n.265+40357A>C)
n.4743A>C
c.3091A>C
n.2428A>C
c.4013A>C
c.1981A>C
n.9297A>C
c.9281A>C (p.Gln3094Pro)
c.9203A>C (p.Gln3068Pro)
c.6587A>C (p.Gln2196Pro)
n.272-757T>G
c.9305A>C (p.Gln3102Pro)
c.9302A>C (p.Gln3101Pro)
c.9224A>C (p.Gln3075Pro)
c.9209A>C (p.Gln3070Pro)
c.2423A>C (p.Gln808Pro)
c.2402A>C (p.Gln801Pro)
n.2523-757T>G
n.9300A>C
COSMIC
5g.90716566A>GCA360397256ADGRV1c.9284A>G (p.Gln3095Arg)
c.265+40357A>G (n.265+40357A>G)
n.4743A>G
c.3091A>G
n.2428A>G
c.4013A>G
c.1981A>G
n.9297A>G
c.9281A>G (p.Gln3094Arg)
c.9203A>G (p.Gln3068Arg)
c.6587A>G (p.Gln2196Arg)
n.272-757T>C
c.9305A>G (p.Gln3102Arg)
c.9302A>G (p.Gln3101Arg)
c.9224A>G (p.Gln3075Arg)
c.9209A>G (p.Gln3070Arg)
c.2423A>G (p.Gln808Arg)
c.2402A>G (p.Gln801Arg)
n.2523-757T>C
n.9300A>G
5g.90716566A>TCA360397259ADGRV1c.9284A>T (p.Gln3095Leu)
c.265+40357A>T (n.265+40357A>T)
n.4743A>T
c.3091A>T
n.2428A>T
c.4013A>T
c.1981A>T
n.9297A>T
c.9281A>T (p.Gln3094Leu)
c.9203A>T (p.Gln3068Leu)
c.6587A>T (p.Gln2196Leu)
n.272-757T>A
c.9305A>T (p.Gln3102Leu)
c.9302A>T (p.Gln3101Leu)
c.9224A>T (p.Gln3075Leu)
c.9209A>T (p.Gln3070Leu)
c.2423A>T (p.Gln808Leu)
c.2402A>T (p.Gln801Leu)
n.2523-757T>A
n.9300A>T
5g.90716567G>ACA445413248ADGRV1c.9285G>A (p.Gln3095=)
c.265+40358G>A (n.265+40358G>A)
n.4744G>A
c.3092G>A
n.2429G>A
c.4014G>A
c.1982G>A
n.9298G>A
c.9282G>A (p.Gln3094=)
c.9204G>A (p.Gln3068=)
c.6588G>A (p.Gln2196=)
n.272-758C>T
c.9306G>A (p.Gln3102=)
c.9303G>A (p.Gln3101=)
c.9225G>A (p.Gln3075=)
c.9210G>A (p.Gln3070=)
c.2424G>A (p.Gln808=)
c.2403G>A (p.Gln801=)
n.2523-758C>T
n.9301G>A
5g.90716567G>CCA360397260ADGRV1c.9285G>C (p.Gln3095His)
c.265+40358G>C (n.265+40358G>C)
n.4744G>C
c.3092G>C
n.2429G>C
c.4014G>C
c.1982G>C
n.9298G>C
c.9282G>C (p.Gln3094His)
c.9204G>C (p.Gln3068His)
c.6588G>C (p.Gln2196His)
n.272-758C>G
c.9306G>C (p.Gln3102His)
c.9303G>C (p.Gln3101His)
c.9225G>C (p.Gln3075His)
c.9210G>C (p.Gln3070His)
c.2424G>C (p.Gln808His)
c.2403G>C (p.Gln801His)
n.2523-758C>G
n.9301G>C
5g.90716567G>TCA360397261ADGRV1c.9285G>T (p.Gln3095His)
c.265+40358G>T (n.265+40358G>T)
n.4744G>T
c.3092G>T
n.2429G>T
c.4014G>T
c.1982G>T
n.9298G>T
c.9282G>T (p.Gln3094His)
c.9204G>T (p.Gln3068His)
c.6588G>T (p.Gln2196His)
n.272-758C>A
c.9306G>T (p.Gln3102His)
c.9303G>T (p.Gln3101His)
c.9225G>T (p.Gln3075His)
c.9210G>T (p.Gln3070His)
c.2424G>T (p.Gln808His)
c.2403G>T (p.Gln801His)
n.2523-758C>A
n.9301G>T
5g.90716568G>ACA360397263ADGRV1c.9286G>A (p.Glu3096Lys)
c.265+40359G>A (n.265+40359G>A)
n.4745G>A
c.3093G>A
n.2430G>A
c.4015G>A
c.1983G>A
n.9299G>A
c.9283G>A (p.Glu3095Lys)
c.9205G>A (p.Glu3069Lys)
c.6589G>A (p.Glu2197Lys)
n.272-759C>T
c.9307G>A (p.Glu3103Lys)
c.9304G>A (p.Glu3102Lys)
c.9226G>A (p.Glu3076Lys)
c.9211G>A (p.Glu3071Lys)
c.2425G>A (p.Glu809Lys)
c.2404G>A (p.Glu802Lys)
n.2523-759C>T
n.9302G>A
5g.90716568G>CCA360397264ADGRV1c.9286G>C (p.Glu3096Gln)
c.265+40359G>C (n.265+40359G>C)
n.4745G>C
c.3093G>C
n.2430G>C
c.4015G>C
c.1983G>C
n.9299G>C
c.9283G>C (p.Glu3095Gln)
c.9205G>C (p.Glu3069Gln)
c.6589G>C (p.Glu2197Gln)
n.272-759C>G
c.9307G>C (p.Glu3103Gln)
c.9304G>C (p.Glu3102Gln)
c.9226G>C (p.Glu3076Gln)
c.9211G>C (p.Glu3071Gln)
c.2425G>C (p.Glu809Gln)
c.2404G>C (p.Glu802Gln)
n.2523-759C>G
n.9302G>C
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90716568G=CA1562870596ADGRV1c.9286G= (p.Glu3096=)
c.265+40359G= (n.265+40359G=)
n.4745G=
c.3093G=
n.2430G=
c.4015G=
c.1983G=
n.9299G=
c.9283G= (p.Glu3095=)
c.9205G= (p.Glu3069=)
c.6589G= (p.Glu2197=)
n.272-759C=
c.9307G= (p.Glu3103=)
c.9304G= (p.Glu3102=)
c.9226G= (p.Glu3076=)
c.9211G= (p.Glu3071=)
c.2425G= (p.Glu809=)
c.2404G= (p.Glu802=)
n.2523-759C=
n.9302G=
5g.90716568G>TCA360397265ADGRV1c.9286G>T (p.Glu3096Ter)
c.265+40359G>T (n.265+40359G>T)
n.4745G>T
c.3093G>T
n.2430G>T
c.4015G>T
c.1983G>T
n.9299G>T
c.9283G>T (p.Glu3095Ter)
c.9205G>T (p.Glu3069Ter)
c.6589G>T (p.Glu2197Ter)
n.272-759C>A
c.9307G>T (p.Glu3103Ter)
c.9304G>T (p.Glu3102Ter)
c.9226G>T (p.Glu3076Ter)
c.9211G>T (p.Glu3071Ter)
c.2425G>T (p.Glu809Ter)
c.2404G>T (p.Glu802Ter)
n.2523-759C>A
n.9302G>T
gnomAD v4
5g.90716569A=CA1562870597ADGRV1c.9287A= (p.Glu3096=)
c.265+40360A= (n.265+40360A=)
n.4746A=
c.3094A=
n.2431A=
c.4016A=
c.1984A=
n.9300A=
c.9284A= (p.Glu3095=)
c.9206A= (p.Glu3069=)
c.6590A= (p.Glu2197=)
n.272-760T=
c.9308A= (p.Glu3103=)
c.9305A= (p.Glu3102=)
c.9227A= (p.Glu3076=)
c.9212A= (p.Glu3071=)
c.2426A= (p.Glu809=)
c.2405A= (p.Glu802=)
n.2523-760T=
n.9303A=
5g.90716569A>CCA3340477ADGRV1c.9287A>C (p.Glu3096Ala)
c.265+40360A>C (n.265+40360A>C)
n.4746A>C
c.3094A>C
n.2431A>C
c.4016A>C
c.1984A>C
n.9300A>C
c.9284A>C (p.Glu3095Ala)
c.9206A>C (p.Glu3069Ala)
c.6590A>C (p.Glu2197Ala)
n.272-760T>G
c.9308A>C (p.Glu3103Ala)
c.9305A>C (p.Glu3102Ala)
c.9227A>C (p.Glu3076Ala)
c.9212A>C (p.Glu3071Ala)
c.2426A>C (p.Glu809Ala)
c.2405A>C (p.Glu802Ala)
n.2523-760T>G
n.9303A>C
dbSNP ExAC gnomAD v2
5g.90716569A>GCA360397267ADGRV1c.9287A>G (p.Glu3096Gly)
c.265+40360A>G (n.265+40360A>G)
n.4746A>G
c.3094A>G
n.2431A>G
c.4016A>G
c.1984A>G
n.9300A>G
c.9284A>G (p.Glu3095Gly)
c.9206A>G (p.Glu3069Gly)
c.6590A>G (p.Glu2197Gly)
n.272-760T>C
c.9308A>G (p.Glu3103Gly)
c.9305A>G (p.Glu3102Gly)
c.9227A>G (p.Glu3076Gly)
c.9212A>G (p.Glu3071Gly)
c.2426A>G (p.Glu809Gly)
c.2405A>G (p.Glu802Gly)
n.2523-760T>C
n.9303A>G
5g.90716569A>TCA360397269ADGRV1c.9287A>T (p.Glu3096Val)
c.265+40360A>T (n.265+40360A>T)
n.4746A>T
c.3094A>T
n.2431A>T
c.4016A>T
c.1984A>T
n.9300A>T
c.9284A>T (p.Glu3095Val)
c.9206A>T (p.Glu3069Val)
c.6590A>T (p.Glu2197Val)
n.272-760T>A
c.9308A>T (p.Glu3103Val)
c.9305A>T (p.Glu3102Val)
c.9227A>T (p.Glu3076Val)
c.9212A>T (p.Glu3071Val)
c.2426A>T (p.Glu809Val)
c.2405A>T (p.Glu802Val)
n.2523-760T>A
n.9303A>T
5g.90716570G>ACA445413252ADGRV1c.9288G>A (p.Glu3096=)
c.265+40361G>A (n.265+40361G>A)
n.4747G>A
c.3095G>A
n.2432G>A
c.4017G>A
c.1985G>A
n.9301G>A
c.9285G>A (p.Glu3095=)
c.9207G>A (p.Glu3069=)
c.6591G>A (p.Glu2197=)
n.272-761C>T
c.9309G>A (p.Glu3103=)
c.9306G>A (p.Glu3102=)
c.9228G>A (p.Glu3076=)
c.9213G>A (p.Glu3071=)
c.2427G>A (p.Glu809=)
c.2406G>A (p.Glu802=)
n.2523-761C>T
n.9304G>A
5g.90716570G>CCA360397271ADGRV1c.9288G>C (p.Glu3096Asp)
c.265+40361G>C (n.265+40361G>C)
n.4747G>C
c.3095G>C
n.2432G>C
c.4017G>C
c.1985G>C
n.9301G>C
c.9285G>C (p.Glu3095Asp)
c.9207G>C (p.Glu3069Asp)
c.6591G>C (p.Glu2197Asp)
n.272-761C>G
c.9309G>C (p.Glu3103Asp)
c.9306G>C (p.Glu3102Asp)
c.9228G>C (p.Glu3076Asp)
c.9213G>C (p.Glu3071Asp)
c.2427G>C (p.Glu809Asp)
c.2406G>C (p.Glu802Asp)
n.2523-761C>G
n.9304G>C
gnomAD v4
5g.90716570G>TCA360397272ADGRV1c.9288G>T (p.Glu3096Asp)
c.265+40361G>T (n.265+40361G>T)
n.4747G>T
c.3095G>T
n.2432G>T
c.4017G>T
c.1985G>T
n.9301G>T
c.9285G>T (p.Glu3095Asp)
c.9207G>T (p.Glu3069Asp)
c.6591G>T (p.Glu2197Asp)
n.272-761C>A
c.9309G>T (p.Glu3103Asp)
c.9306G>T (p.Glu3102Asp)
c.9228G>T (p.Glu3076Asp)
c.9213G>T (p.Glu3071Asp)
c.2427G>T (p.Glu809Asp)
c.2406G>T (p.Glu802Asp)
n.2523-761C>A
n.9304G>T
5g.90716571A>CCA360397273ADGRV1c.9289A>C (p.Ser3097Arg)
c.265+40362A>C (n.265+40362A>C)
n.4748A>C
c.3096A>C
n.2433A>C
c.4018A>C
c.1986A>C
n.9302A>C
c.9286A>C (p.Ser3096Arg)
c.9208A>C (p.Ser3070Arg)
c.6592A>C (p.Ser2198Arg)
n.272-762T>G
c.9310A>C (p.Ser3104Arg)
c.9307A>C (p.Ser3103Arg)
c.9229A>C (p.Ser3077Arg)
c.9214A>C (p.Ser3072Arg)
c.2428A>C (p.Ser810Arg)
c.2407A>C (p.Ser803Arg)
n.2523-762T>G
n.9305A>C
5g.90716571A>GCA360397275ADGRV1c.9289A>G (p.Ser3097Gly)
c.265+40362A>G (n.265+40362A>G)
n.4748A>G
c.3096A>G
n.2433A>G
c.4018A>G
c.1986A>G
n.9302A>G
c.9286A>G (p.Ser3096Gly)
c.9208A>G (p.Ser3070Gly)
c.6592A>G (p.Ser2198Gly)
n.272-762T>C
c.9310A>G (p.Ser3104Gly)
c.9307A>G (p.Ser3103Gly)
c.9229A>G (p.Ser3077Gly)
c.9214A>G (p.Ser3072Gly)
c.2428A>G (p.Ser810Gly)
c.2407A>G (p.Ser803Gly)
n.2523-762T>C
n.9305A>G
dbSNP
5g.90716571A>TCA360397277ADGRV1c.9289A>T (p.Ser3097Cys)
c.265+40362A>T (n.265+40362A>T)
n.4748A>T
c.3096A>T
n.2433A>T
c.4018A>T
c.1986A>T
n.9302A>T
c.9286A>T (p.Ser3096Cys)
c.9208A>T (p.Ser3070Cys)
c.6592A>T (p.Ser2198Cys)
n.272-762T>A
c.9310A>T (p.Ser3104Cys)
c.9307A>T (p.Ser3103Cys)
c.9229A>T (p.Ser3077Cys)
c.9214A>T (p.Ser3072Cys)
c.2428A>T (p.Ser810Cys)
c.2407A>T (p.Ser803Cys)
n.2523-762T>A
n.9305A>T
5g.90716572G>ACA360397281ADGRV1c.9290G>A (p.Ser3097Asn)
c.265+40363G>A (n.265+40363G>A)
n.4749G>A
c.3097G>A
n.2434G>A
c.4019G>A
c.1987G>A
n.9303G>A
c.9287G>A (p.Ser3096Asn)
c.9209G>A (p.Ser3070Asn)
c.6593G>A (p.Ser2198Asn)
n.272-763C>T
c.9311G>A (p.Ser3104Asn)
c.9308G>A (p.Ser3103Asn)
c.9230G>A (p.Ser3077Asn)
c.9215G>A (p.Ser3072Asn)
c.2429G>A (p.Ser810Asn)
c.2408G>A (p.Ser803Asn)
n.2523-763C>T
n.9306G>A
gnomAD v4
5g.90716572G>CCA360397280ADGRV1c.9290G>C (p.Ser3097Thr)
c.265+40363G>C (n.265+40363G>C)
n.4749G>C
c.3097G>C
n.2434G>C
c.4019G>C
c.1987G>C
n.9303G>C
c.9287G>C (p.Ser3096Thr)
c.9209G>C (p.Ser3070Thr)
c.6593G>C (p.Ser2198Thr)
n.272-763C>G
c.9311G>C (p.Ser3104Thr)
c.9308G>C (p.Ser3103Thr)
c.9230G>C (p.Ser3077Thr)
c.9215G>C (p.Ser3072Thr)
c.2429G>C (p.Ser810Thr)
c.2408G>C (p.Ser803Thr)
n.2523-763C>G
n.9306G>C
gnomAD v4
5g.90716572G>TCA360397279ADGRV1c.9290G>T (p.Ser3097Ile)
c.265+40363G>T (n.265+40363G>T)
n.4749G>T
c.3097G>T
n.2434G>T
c.4019G>T
c.1987G>T
n.9303G>T
c.9287G>T (p.Ser3096Ile)
c.9209G>T (p.Ser3070Ile)
c.6593G>T (p.Ser2198Ile)
n.272-763C>A
c.9311G>T (p.Ser3104Ile)
c.9308G>T (p.Ser3103Ile)
c.9230G>T (p.Ser3077Ile)
c.9215G>T (p.Ser3072Ile)
c.2429G>T (p.Ser810Ile)
c.2408G>T (p.Ser803Ile)
n.2523-763C>A
n.9306G>T
5g.90716573T>ACA360397282ADGRV1c.9291T>A (p.Ser3097Arg)
c.265+40364T>A (n.265+40364T>A)
n.4750T>A
c.3098T>A
n.2435T>A
c.4020T>A
c.1988T>A
n.9304T>A
c.9288T>A (p.Ser3096Arg)
c.9210T>A (p.Ser3070Arg)
c.6594T>A (p.Ser2198Arg)
n.272-764A>T
c.9312T>A (p.Ser3104Arg)
c.9309T>A (p.Ser3103Arg)
c.9231T>A (p.Ser3077Arg)
c.9216T>A (p.Ser3072Arg)
c.2430T>A (p.Ser810Arg)
c.2409T>A (p.Ser803Arg)
n.2523-764A>T
n.9307T>A
gnomAD v4
5g.90716573T>CCA445413260ADGRV1c.9291T>C (p.Ser3097=)
c.265+40364T>C (n.265+40364T>C)
n.4750T>C
c.3098T>C
n.2435T>C
c.4020T>C
c.1988T>C
n.9304T>C
c.9288T>C (p.Ser3096=)
c.9210T>C (p.Ser3070=)
c.6594T>C (p.Ser2198=)
n.272-764A>G
c.9312T>C (p.Ser3104=)
c.9309T>C (p.Ser3103=)
c.9231T>C (p.Ser3077=)
c.9216T>C (p.Ser3072=)
c.2430T>C (p.Ser810=)
c.2409T>C (p.Ser803=)
n.2523-764A>G
n.9307T>C
5g.90716573T>GCA184901ADGRV1c.9291T>G (p.Ser3097Arg)
c.265+40364T>G (n.265+40364T>G)
n.4750T>G
c.3098T>G
n.2435T>G
c.4020T>G
c.1988T>G
n.9304T>G
c.9288T>G (p.Ser3096Arg)
c.9210T>G (p.Ser3070Arg)
c.6594T>G (p.Ser2198Arg)
n.272-764A>C
c.9312T>G (p.Ser3104Arg)
c.9309T>G (p.Ser3103Arg)
c.9231T>G (p.Ser3077Arg)
c.9216T>G (p.Ser3072Arg)
c.2430T>G (p.Ser810Arg)
c.2409T>G (p.Ser803Arg)
n.2523-764A>C
n.9307T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90716573T=CA1562870598ADGRV1c.9291T= (p.Ser3097=)
c.265+40364T= (n.265+40364T=)
n.4750T=
c.3098T=
n.2435T=
c.4020T=
c.1988T=
n.9304T=
c.9288T= (p.Ser3096=)
c.9210T= (p.Ser3070=)
c.6594T= (p.Ser2198=)
n.272-764A=
c.9312T= (p.Ser3104=)
c.9309T= (p.Ser3103=)
c.9231T= (p.Ser3077=)
c.9216T= (p.Ser3072=)
c.2430T= (p.Ser810=)
c.2409T= (p.Ser803=)
n.2523-764A=
n.9307T=
5g.90716574G>ACA360397285ADGRV1c.9292G>A (p.Val3098Ile)
c.265+40365G>A (n.265+40365G>A)
n.4751G>A
c.3099G>A
n.2436G>A
c.4021G>A
c.1989G>A
n.9305G>A
c.9289G>A (p.Val3097Ile)
c.9211G>A (p.Val3071Ile)
c.6595G>A (p.Val2199Ile)
n.272-765C>T
c.9313G>A (p.Val3105Ile)
c.9310G>A (p.Val3104Ile)
c.9232G>A (p.Val3078Ile)
c.9217G>A (p.Val3073Ile)
c.2431G>A (p.Val811Ile)
c.2410G>A (p.Val804Ile)
n.2523-765C>T
n.9308G>A
5g.90716574G>CCA360397286ADGRV1c.9292G>C (p.Val3098Leu)
c.265+40365G>C (n.265+40365G>C)
n.4751G>C
c.3099G>C
n.2436G>C
c.4021G>C
c.1989G>C
n.9305G>C
c.9289G>C (p.Val3097Leu)
c.9211G>C (p.Val3071Leu)
c.6595G>C (p.Val2199Leu)
n.272-765C>G
c.9313G>C (p.Val3105Leu)
c.9310G>C (p.Val3104Leu)
c.9232G>C (p.Val3078Leu)
c.9217G>C (p.Val3073Leu)
c.2431G>C (p.Val811Leu)
c.2410G>C (p.Val804Leu)
n.2523-765C>G
n.9308G>C
5g.90716574G>TCA360397288ADGRV1c.9292G>T (p.Val3098Phe)
c.265+40365G>T (n.265+40365G>T)
n.4751G>T
c.3099G>T
n.2436G>T
c.4021G>T
c.1989G>T
n.9305G>T
c.9289G>T (p.Val3097Phe)
c.9211G>T (p.Val3071Phe)
c.6595G>T (p.Val2199Phe)
n.272-765C>A
c.9313G>T (p.Val3105Phe)
c.9310G>T (p.Val3104Phe)
c.9232G>T (p.Val3078Phe)
c.9217G>T (p.Val3073Phe)
c.2431G>T (p.Val811Phe)
c.2410G>T (p.Val804Phe)
n.2523-765C>A
n.9308G>T
5g.90716575T>ACA360397290ADGRV1c.9293T>A (p.Val3098Asp)
c.265+40366T>A (n.265+40366T>A)
n.4752T>A
c.3100T>A
n.2437T>A
c.4022T>A
c.1990T>A
n.9306T>A
c.9290T>A (p.Val3097Asp)
c.9212T>A (p.Val3071Asp)
c.6596T>A (p.Val2199Asp)
n.272-766A>T
c.9314T>A (p.Val3105Asp)
c.9311T>A (p.Val3104Asp)
c.9233T>A (p.Val3078Asp)
c.9218T>A (p.Val3073Asp)
c.2432T>A (p.Val811Asp)
c.2411T>A (p.Val804Asp)
n.2523-766A>T
n.9309T>A
5g.90716575T>CCA360397292ADGRV1c.9293T>C (p.Val3098Ala)
c.265+40366T>C (n.265+40366T>C)
n.4752T>C
c.3100T>C
n.2437T>C
c.4022T>C
c.1990T>C
n.9306T>C
c.9290T>C (p.Val3097Ala)
c.9212T>C (p.Val3071Ala)
c.6596T>C (p.Val2199Ala)
n.272-766A>G
c.9314T>C (p.Val3105Ala)
c.9311T>C (p.Val3104Ala)
c.9233T>C (p.Val3078Ala)
c.9218T>C (p.Val3073Ala)
c.2432T>C (p.Val811Ala)
c.2411T>C (p.Val804Ala)
n.2523-766A>G
n.9309T>C
5g.90716575T>GCA360397293ADGRV1c.9293T>G (p.Val3098Gly)
c.265+40366T>G (n.265+40366T>G)
n.4752T>G
c.3100T>G
n.2437T>G
c.4022T>G
c.1990T>G
n.9306T>G
c.9290T>G (p.Val3097Gly)
c.9212T>G (p.Val3071Gly)
c.6596T>G (p.Val2199Gly)
n.272-766A>C
c.9314T>G (p.Val3105Gly)
c.9311T>G (p.Val3104Gly)
c.9233T>G (p.Val3078Gly)
c.9218T>G (p.Val3073Gly)
c.2432T>G (p.Val811Gly)
c.2411T>G (p.Val804Gly)
n.2523-766A>C
n.9309T>G
5g.90716576T>ACA445413268ADGRV1c.9294T>A (p.Val3098=)
c.265+40367T>A (n.265+40367T>A)
n.4753T>A
c.3101T>A
n.2438T>A
c.4023T>A
c.1991T>A
n.9307T>A
c.9291T>A (p.Val3097=)
c.9213T>A (p.Val3071=)
c.6597T>A (p.Val2199=)
n.272-767A>T
c.9315T>A (p.Val3105=)
c.9312T>A (p.Val3104=)
c.9234T>A (p.Val3078=)
c.9219T>A (p.Val3073=)
c.2433T>A (p.Val811=)
c.2412T>A (p.Val804=)
n.2523-767A>T
n.9310T>A
5g.90716576T>CCA445413269ADGRV1c.9294T>C (p.Val3098=)
c.265+40367T>C (n.265+40367T>C)
n.4753T>C
c.3101T>C
n.2438T>C
c.4023T>C
c.1991T>C
n.9307T>C
c.9291T>C (p.Val3097=)
c.9213T>C (p.Val3071=)
c.6597T>C (p.Val2199=)
n.272-767A>G
c.9315T>C (p.Val3105=)
c.9312T>C (p.Val3104=)
c.9234T>C (p.Val3078=)
c.9219T>C (p.Val3073=)
c.2433T>C (p.Val811=)
c.2412T>C (p.Val804=)
n.2523-767A>G
n.9310T>C
5g.90716576T>GCA445413271ADGRV1c.9294T>G (p.Val3098=)
c.265+40367T>G (n.265+40367T>G)
n.4753T>G
c.3101T>G
n.2438T>G
c.4023T>G
c.1991T>G
n.9307T>G
c.9291T>G (p.Val3097=)
c.9213T>G (p.Val3071=)
c.6597T>G (p.Val2199=)
n.272-767A>C
c.9315T>G (p.Val3105=)
c.9312T>G (p.Val3104=)
c.9234T>G (p.Val3078=)
c.9219T>G (p.Val3073=)
c.2433T>G (p.Val811=)
c.2412T>G (p.Val804=)
n.2523-767A>C
n.9310T>G
5g.90716577G>ACA360397295ADGRV1c.9295G>A (p.Ala3099Thr)
c.265+40368G>A (n.265+40368G>A)
n.4754G>A
c.3102G>A
n.2439G>A
c.4024G>A
c.1992G>A
n.9308G>A
c.9292G>A (p.Ala3098Thr)
c.9214G>A (p.Ala3072Thr)
c.6598G>A (p.Ala2200Thr)
n.272-768C>T
c.9316G>A (p.Ala3106Thr)
c.9313G>A (p.Ala3105Thr)
c.9235G>A (p.Ala3079Thr)
c.9220G>A (p.Ala3074Thr)
c.2434G>A (p.Ala812Thr)
c.2413G>A (p.Ala805Thr)
n.2523-768C>T
n.9311G>A
COSMIC
5g.90716577G>CCA360397296ADGRV1c.9295G>C (p.Ala3099Pro)
c.265+40368G>C (n.265+40368G>C)
n.4754G>C
c.3102G>C
n.2439G>C
c.4024G>C
c.1992G>C
n.9308G>C
c.9292G>C (p.Ala3098Pro)
c.9214G>C (p.Ala3072Pro)
c.6598G>C (p.Ala2200Pro)
n.272-768C>G
c.9316G>C (p.Ala3106Pro)
c.9313G>C (p.Ala3105Pro)
c.9235G>C (p.Ala3079Pro)
c.9220G>C (p.Ala3074Pro)
c.2434G>C (p.Ala812Pro)
c.2413G>C (p.Ala805Pro)
n.2523-768C>G
n.9311G>C
5g.90716577G>TCA360397298ADGRV1c.9295G>T (p.Ala3099Ser)
c.265+40368G>T (n.265+40368G>T)
n.4754G>T
c.3102G>T
n.2439G>T
c.4024G>T
c.1992G>T
n.9308G>T
c.9292G>T (p.Ala3098Ser)
c.9214G>T (p.Ala3072Ser)
c.6598G>T (p.Ala2200Ser)
n.272-768C>A
c.9316G>T (p.Ala3106Ser)
c.9313G>T (p.Ala3105Ser)
c.9235G>T (p.Ala3079Ser)
c.9220G>T (p.Ala3074Ser)
c.2434G>T (p.Ala812Ser)
c.2413G>T (p.Ala805Ser)
n.2523-768C>A
n.9311G>T
5g.90716578C>ACA360397299ADGRV1c.9296C>A (p.Ala3099Glu)
c.265+40369C>A (n.265+40369C>A)
n.4755C>A
c.3103C>A
n.2440C>A
c.4025C>A
c.1993C>A
n.9309C>A
c.9293C>A (p.Ala3098Glu)
c.9215C>A (p.Ala3072Glu)
c.6599C>A (p.Ala2200Glu)
n.272-769G>T
c.9317C>A (p.Ala3106Glu)
c.9314C>A (p.Ala3105Glu)
c.9236C>A (p.Ala3079Glu)
c.9221C>A (p.Ala3074Glu)
c.2435C>A (p.Ala812Glu)
c.2414C>A (p.Ala805Glu)
n.2523-769G>T
n.9312C>A
5g.90716578C>GCA360397300ADGRV1c.9296C>G (p.Ala3099Gly)
c.265+40369C>G (n.265+40369C>G)
n.4755C>G
c.3103C>G
n.2440C>G
c.4025C>G
c.1993C>G
n.9309C>G
c.9293C>G (p.Ala3098Gly)
c.9215C>G (p.Ala3072Gly)
c.6599C>G (p.Ala2200Gly)
n.272-769G>C
c.9317C>G (p.Ala3106Gly)
c.9314C>G (p.Ala3105Gly)
c.9236C>G (p.Ala3079Gly)
c.9221C>G (p.Ala3074Gly)
c.2435C>G (p.Ala812Gly)
c.2414C>G (p.Ala805Gly)
n.2523-769G>C
n.9312C>G
5g.90716578C>TCA360397301ADGRV1c.9296C>T (p.Ala3099Val)
c.265+40369C>T (n.265+40369C>T)
n.4755C>T
c.3103C>T
n.2440C>T
c.4025C>T
c.1993C>T
n.9309C>T
c.9293C>T (p.Ala3098Val)
c.9215C>T (p.Ala3072Val)
c.6599C>T (p.Ala2200Val)
n.272-769G>A
c.9317C>T (p.Ala3106Val)
c.9314C>T (p.Ala3105Val)
c.9236C>T (p.Ala3079Val)
c.9221C>T (p.Ala3074Val)
c.2435C>T (p.Ala812Val)
c.2414C>T (p.Ala805Val)
n.2523-769G>A
n.9312C>T
gnomAD v4
5g.90716579A>CCA445413276ADGRV1c.9297A>C (p.Ala3099=)
c.265+40370A>C (n.265+40370A>C)
n.4756A>C
c.3104A>C
n.2441A>C
c.4026A>C
c.1994A>C
n.9310A>C
c.9294A>C (p.Ala3098=)
c.9216A>C (p.Ala3072=)
c.6600A>C (p.Ala2200=)
n.272-770T>G
c.9318A>C (p.Ala3106=)
c.9315A>C (p.Ala3105=)
c.9237A>C (p.Ala3079=)
c.9222A>C (p.Ala3074=)
c.2436A>C (p.Ala812=)
c.2415A>C (p.Ala805=)
n.2523-770T>G
n.9313A>C
5g.90716579A>GCA445413280ADGRV1c.9297A>G (p.Ala3099=)
c.265+40370A>G (n.265+40370A>G)
n.4756A>G
c.3104A>G
n.2441A>G
c.4026A>G
c.1994A>G
n.9310A>G
c.9294A>G (p.Ala3098=)
c.9216A>G (p.Ala3072=)
c.6600A>G (p.Ala2200=)
n.272-770T>C
c.9318A>G (p.Ala3106=)
c.9315A>G (p.Ala3105=)
c.9237A>G (p.Ala3079=)
c.9222A>G (p.Ala3074=)
c.2436A>G (p.Ala812=)
c.2415A>G (p.Ala805=)
n.2523-770T>C
n.9313A>G
5g.90716579A>TCA445413282ADGRV1c.9297A>T (p.Ala3099=)
c.265+40370A>T (n.265+40370A>T)
n.4756A>T
c.3104A>T
n.2441A>T
c.4026A>T
c.1994A>T
n.9310A>T
c.9294A>T (p.Ala3098=)
c.9216A>T (p.Ala3072=)
c.6600A>T (p.Ala2200=)
n.272-770T>A
c.9318A>T (p.Ala3106=)
c.9315A>T (p.Ala3105=)
c.9237A>T (p.Ala3079=)
c.9222A>T (p.Ala3074=)
c.2436A>T (p.Ala812=)
c.2415A>T (p.Ala805=)
n.2523-770T>A
n.9313A>T
5g.90716580G>ACA360397304ADGRV1c.9298G>A (p.Val3100Ile)
c.265+40371G>A (n.265+40371G>A)
n.4757G>A
c.3105G>A
n.2442G>A
c.4027G>A
c.1995G>A
n.9311G>A
c.9295G>A (p.Val3099Ile)
c.9217G>A (p.Val3073Ile)
c.6601G>A (p.Val2201Ile)
n.272-771C>T
c.9319G>A (p.Val3107Ile)
c.9316G>A (p.Val3106Ile)
c.9238G>A (p.Val3080Ile)
c.9223G>A (p.Val3075Ile)
c.2437G>A (p.Val813Ile)
c.2416G>A (p.Val806Ile)
n.2523-771C>T
n.9314G>A
gnomAD v4
5g.90716580G>CCA360397306ADGRV1c.9298G>C (p.Val3100Leu)
c.265+40371G>C (n.265+40371G>C)
n.4757G>C
c.3105G>C
n.2442G>C
c.4027G>C
c.1995G>C
n.9311G>C
c.9295G>C (p.Val3099Leu)
c.9217G>C (p.Val3073Leu)
c.6601G>C (p.Val2201Leu)
n.272-771C>G
c.9319G>C (p.Val3107Leu)
c.9316G>C (p.Val3106Leu)
c.9238G>C (p.Val3080Leu)
c.9223G>C (p.Val3075Leu)
c.2437G>C (p.Val813Leu)
c.2416G>C (p.Val806Leu)
n.2523-771C>G
n.9314G>C
5g.90716580G>TCA360397303ADGRV1c.9298G>T (p.Val3100Leu)
c.265+40371G>T (n.265+40371G>T)
n.4757G>T
c.3105G>T
n.2442G>T
c.4027G>T
c.1995G>T
n.9311G>T
c.9295G>T (p.Val3099Leu)
c.9217G>T (p.Val3073Leu)
c.6601G>T (p.Val2201Leu)
n.272-771C>A
c.9319G>T (p.Val3107Leu)
c.9316G>T (p.Val3106Leu)
c.9238G>T (p.Val3080Leu)
c.9223G>T (p.Val3075Leu)
c.2437G>T (p.Val813Leu)
c.2416G>T (p.Val806Leu)
n.2523-771C>A
n.9314G>T
5g.90716581T>ACA360397308ADGRV1c.9299T>A (p.Val3100Glu)
c.265+40372T>A (n.265+40372T>A)
n.4758T>A
c.3106T>A
n.2443T>A
c.4028T>A
c.1996T>A
n.9312T>A
c.9296T>A (p.Val3099Glu)
c.9218T>A (p.Val3073Glu)
c.6602T>A (p.Val2201Glu)
n.272-772A>T
c.9320T>A (p.Val3107Glu)
c.9317T>A (p.Val3106Glu)
c.9239T>A (p.Val3080Glu)
c.9224T>A (p.Val3075Glu)
c.2438T>A (p.Val813Glu)
c.2417T>A (p.Val806Glu)
n.2523-772A>T
n.9315T>A
5g.90716581T>CCA360397309ADGRV1c.9299T>C (p.Val3100Ala)
c.265+40372T>C (n.265+40372T>C)
n.4758T>C
c.3106T>C
n.2443T>C
c.4028T>C
c.1996T>C
n.9312T>C
c.9296T>C (p.Val3099Ala)
c.9218T>C (p.Val3073Ala)
c.6602T>C (p.Val2201Ala)
n.272-772A>G
c.9320T>C (p.Val3107Ala)
c.9317T>C (p.Val3106Ala)
c.9239T>C (p.Val3080Ala)
c.9224T>C (p.Val3075Ala)
c.2438T>C (p.Val813Ala)
c.2417T>C (p.Val806Ala)
n.2523-772A>G
n.9315T>C
gnomAD v4
5g.90716581T>GCA360397310ADGRV1c.9299T>G (p.Val3100Gly)
c.265+40372T>G (n.265+40372T>G)
n.4758T>G
c.3106T>G
n.2443T>G
c.4028T>G
c.1996T>G
n.9312T>G
c.9296T>G (p.Val3099Gly)
c.9218T>G (p.Val3073Gly)
c.6602T>G (p.Val2201Gly)
n.272-772A>C
c.9320T>G (p.Val3107Gly)
c.9317T>G (p.Val3106Gly)
c.9239T>G (p.Val3080Gly)
c.9224T>G (p.Val3075Gly)
c.2438T>G (p.Val813Gly)
c.2417T>G (p.Val806Gly)
n.2523-772A>C
n.9315T>G
5g.90716582A>CCA445413288ADGRV1c.9300A>C (p.Val3100=)
c.265+40373A>C (n.265+40373A>C)
n.4759A>C
c.3107A>C
n.2444A>C
c.4029A>C
c.1997A>C
n.9313A>C
c.9297A>C (p.Val3099=)
c.9219A>C (p.Val3073=)
c.6603A>C (p.Val2201=)
n.272-773T>G
c.9321A>C (p.Val3107=)
c.9318A>C (p.Val3106=)
c.9240A>C (p.Val3080=)
c.9225A>C (p.Val3075=)
c.2439A>C (p.Val813=)
c.2418A>C (p.Val806=)
n.2523-773T>G
n.9316A>C
5g.90716582A>GCA445413289ADGRV1c.9300A>G (p.Val3100=)
c.265+40373A>G (n.265+40373A>G)
n.4759A>G
c.3107A>G
n.2444A>G
c.4029A>G
c.1997A>G
n.9313A>G
c.9297A>G (p.Val3099=)
c.9219A>G (p.Val3073=)
c.6603A>G (p.Val2201=)
n.272-773T>C
c.9321A>G (p.Val3107=)
c.9318A>G (p.Val3106=)
c.9240A>G (p.Val3080=)
c.9225A>G (p.Val3075=)
c.2439A>G (p.Val813=)
c.2418A>G (p.Val806=)
n.2523-773T>C
n.9316A>G
ClinVar
5g.90716582A>TCA445413291ADGRV1c.9300A>T (p.Val3100=)
c.265+40373A>T (n.265+40373A>T)
n.4759A>T
c.3107A>T
n.2444A>T
c.4029A>T
c.1997A>T
n.9313A>T
c.9297A>T (p.Val3099=)
c.9219A>T (p.Val3073=)
c.6603A>T (p.Val2201=)
n.272-773T>A
c.9321A>T (p.Val3107=)
c.9318A>T (p.Val3106=)
c.9240A>T (p.Val3080=)
c.9225A>T (p.Val3075=)
c.2439A>T (p.Val813=)
c.2418A>T (p.Val806=)
n.2523-773T>A
n.9316A>T
5g.90716583T>ACA360397312ADGRV1c.9301T>A (p.Leu3101Met)
c.265+40374T>A (n.265+40374T>A)
n.4760T>A
c.3108T>A
n.2445T>A
c.4030T>A
c.1998T>A
n.9314T>A
c.9298T>A (p.Leu3100Met)
c.9220T>A (p.Leu3074Met)
c.6604T>A (p.Leu2202Met)
n.272-774A>T
c.9322T>A (p.Leu3108Met)
c.9319T>A (p.Leu3107Met)
c.9241T>A (p.Leu3081Met)
c.9226T>A (p.Leu3076Met)
c.2440T>A (p.Leu814Met)
c.2419T>A (p.Leu807Met)
n.2523-774A>T
n.9317T>A
5g.90716583T>CCA445413293ADGRV1c.9301T>C (p.Leu3101=)
c.265+40374T>C (n.265+40374T>C)
n.4760T>C
c.3108T>C
n.2445T>C
c.4030T>C
c.1998T>C
n.9314T>C
c.9298T>C (p.Leu3100=)
c.9220T>C (p.Leu3074=)
c.6604T>C (p.Leu2202=)
n.272-774A>G
c.9322T>C (p.Leu3108=)
c.9319T>C (p.Leu3107=)
c.9241T>C (p.Leu3081=)
c.9226T>C (p.Leu3076=)
c.2440T>C (p.Leu814=)
c.2419T>C (p.Leu807=)
n.2523-774A>G
n.9317T>C
ClinVar gnomAD v4
5g.90716583T>GCA360397314ADGRV1c.9301T>G (p.Leu3101Val)
c.265+40374T>G (n.265+40374T>G)
n.4760T>G
c.3108T>G
n.2445T>G
c.4030T>G
c.1998T>G
n.9314T>G
c.9298T>G (p.Leu3100Val)
c.9220T>G (p.Leu3074Val)
c.6604T>G (p.Leu2202Val)
n.272-774A>C
c.9322T>G (p.Leu3108Val)
c.9319T>G (p.Leu3107Val)
c.9241T>G (p.Leu3081Val)
c.9226T>G (p.Leu3076Val)
c.2440T>G (p.Leu814Val)
c.2419T>G (p.Leu807Val)
n.2523-774A>C
n.9317T>G
5g.90716584T>ACA360397316ADGRV1c.9302T>A (p.Leu3101Ter)
c.265+40375T>A (n.265+40375T>A)
n.4761T>A
c.3109T>A
n.2446T>A
c.4031T>A
c.1999T>A
n.9315T>A
c.9299T>A (p.Leu3100Ter)
c.9221T>A (p.Leu3074Ter)
c.6605T>A (p.Leu2202Ter)
n.272-775A>T
c.9323T>A (p.Leu3108Ter)
c.9320T>A (p.Leu3107Ter)
c.9242T>A (p.Leu3081Ter)
c.9227T>A (p.Leu3076Ter)
c.2441T>A (p.Leu814Ter)
c.2420T>A (p.Leu807Ter)
n.2523-775A>T
n.9318T>A
5g.90716584T>CCA122805711ADGRV1c.9302T>C (p.Leu3101Ser)
c.265+40375T>C (n.265+40375T>C)
n.4761T>C
c.3109T>C
n.2446T>C
c.4031T>C
c.1999T>C
n.9315T>C
c.9299T>C (p.Leu3100Ser)
c.9221T>C (p.Leu3074Ser)
c.6605T>C (p.Leu2202Ser)
n.272-775A>G
c.9323T>C (p.Leu3108Ser)
c.9320T>C (p.Leu3107Ser)
c.9242T>C (p.Leu3081Ser)
c.9227T>C (p.Leu3076Ser)
c.2441T>C (p.Leu814Ser)
c.2420T>C (p.Leu807Ser)
n.2523-775A>G
n.9318T>C
dbSNP gnomAD v4
5g.90716584T>GCA360397318ADGRV1c.9302T>G (p.Leu3101Trp)
c.265+40375T>G (n.265+40375T>G)
n.4761T>G
c.3109T>G
n.2446T>G
c.4031T>G
c.1999T>G
n.9315T>G
c.9299T>G (p.Leu3100Trp)
c.9221T>G (p.Leu3074Trp)
c.6605T>G (p.Leu2202Trp)
n.272-775A>C
c.9323T>G (p.Leu3108Trp)
c.9320T>G (p.Leu3107Trp)
c.9242T>G (p.Leu3081Trp)
c.9227T>G (p.Leu3076Trp)
c.2441T>G (p.Leu814Trp)
c.2420T>G (p.Leu807Trp)
n.2523-775A>C
n.9318T>G
5g.90716584T=CA1562870599ADGRV1c.9302T= (p.Leu3101=)
c.265+40375T= (n.265+40375T=)
n.4761T=
c.3109T=
n.2446T=
c.4031T=
c.1999T=
n.9315T=
c.9299T= (p.Leu3100=)
c.9221T= (p.Leu3074=)
c.6605T= (p.Leu2202=)
n.272-775A=
c.9323T= (p.Leu3108=)
c.9320T= (p.Leu3107=)
c.9242T= (p.Leu3081=)
c.9227T= (p.Leu3076=)
c.2441T= (p.Leu814=)
c.2420T= (p.Leu807=)
n.2523-775A=
n.9318T=
5g.90716585G>ACA445413296ADGRV1c.9303G>A (p.Leu3101=)
c.265+40376G>A (n.265+40376G>A)
n.4762G>A
c.3110G>A
n.2447G>A
c.4032G>A
c.2000G>A
n.9316G>A
c.9300G>A (p.Leu3100=)
c.9222G>A (p.Leu3074=)
c.6606G>A (p.Leu2202=)
n.272-776C>T
c.9324G>A (p.Leu3108=)
c.9321G>A (p.Leu3107=)
c.9243G>A (p.Leu3081=)
c.9228G>A (p.Leu3076=)
c.2442G>A (p.Leu814=)
c.2421G>A (p.Leu807=)
n.2523-776C>T
n.9319G>A
gnomAD v4
5g.90716585G>CCA360397320ADGRV1c.9303G>C (p.Leu3101Phe)
c.265+40376G>C (n.265+40376G>C)
n.4762G>C
c.3110G>C
n.2447G>C
c.4032G>C
c.2000G>C
n.9316G>C
c.9300G>C (p.Leu3100Phe)
c.9222G>C (p.Leu3074Phe)
c.6606G>C (p.Leu2202Phe)
n.272-776C>G
c.9324G>C (p.Leu3108Phe)
c.9321G>C (p.Leu3107Phe)
c.9243G>C (p.Leu3081Phe)
c.9228G>C (p.Leu3076Phe)
c.2442G>C (p.Leu814Phe)
c.2421G>C (p.Leu807Phe)
n.2523-776C>G
n.9319G>C
5g.90716585G>TCA360397322ADGRV1c.9303G>T (p.Leu3101Phe)
c.265+40376G>T (n.265+40376G>T)
n.4762G>T
c.3110G>T
n.2447G>T
c.4032G>T
c.2000G>T
n.9316G>T
c.9300G>T (p.Leu3100Phe)
c.9222G>T (p.Leu3074Phe)
c.6606G>T (p.Leu2202Phe)
n.272-776C>A
c.9324G>T (p.Leu3108Phe)
c.9321G>T (p.Leu3107Phe)
c.9243G>T (p.Leu3081Phe)
c.9228G>T (p.Leu3076Phe)
c.2442G>T (p.Leu814Phe)
c.2421G>T (p.Leu807Phe)
n.2523-776C>A
n.9319G>T
5g.90716586T>ACA360397323ADGRV1c.9304T>A (p.Tyr3102Asn)
c.265+40377T>A (n.265+40377T>A)
n.4763T>A
c.3111T>A
n.2448T>A
c.4033T>A
c.2001T>A
n.9317T>A
c.9301T>A (p.Tyr3101Asn)
c.9223T>A (p.Tyr3075Asn)
c.6607T>A (p.Tyr2203Asn)
n.272-777A>T
c.9325T>A (p.Tyr3109Asn)
c.9322T>A (p.Tyr3108Asn)
c.9244T>A (p.Tyr3082Asn)
c.9229T>A (p.Tyr3077Asn)
c.2443T>A (p.Tyr815Asn)
c.2422T>A (p.Tyr808Asn)
n.2523-777A>T
n.9320T>A
5g.90716586T>CCA360397324ADGRV1c.9304T>C (p.Tyr3102His)
c.265+40377T>C (n.265+40377T>C)
n.4763T>C
c.3111T>C
n.2448T>C
c.4033T>C
c.2001T>C
n.9317T>C
c.9301T>C (p.Tyr3101His)
c.9223T>C (p.Tyr3075His)
c.6607T>C (p.Tyr2203His)
n.272-777A>G
c.9325T>C (p.Tyr3109His)
c.9322T>C (p.Tyr3108His)
c.9244T>C (p.Tyr3082His)
c.9229T>C (p.Tyr3077His)
c.2443T>C (p.Tyr815His)
c.2422T>C (p.Tyr808His)
n.2523-777A>G
n.9320T>C
gnomAD v4
5g.90716586T>GCA360397325ADGRV1c.9304T>G (p.Tyr3102Asp)
c.265+40377T>G (n.265+40377T>G)
n.4763T>G
c.3111T>G
n.2448T>G
c.4033T>G
c.2001T>G
n.9317T>G
c.9301T>G (p.Tyr3101Asp)
c.9223T>G (p.Tyr3075Asp)
c.6607T>G (p.Tyr2203Asp)
n.272-777A>C
c.9325T>G (p.Tyr3109Asp)
c.9322T>G (p.Tyr3108Asp)
c.9244T>G (p.Tyr3082Asp)
c.9229T>G (p.Tyr3077Asp)
c.2443T>G (p.Tyr815Asp)
c.2422T>G (p.Tyr808Asp)
n.2523-777A>C
n.9320T>G
5g.90716586T=CA1562870600ADGRV1c.9304T= (p.Tyr3102=)
c.265+40377T= (n.265+40377T=)
n.4763T=
c.3111T=
n.2448T=
c.4033T=
c.2001T=
n.9317T=
c.9301T= (p.Tyr3101=)
c.9223T= (p.Tyr3075=)
c.6607T= (p.Tyr2203=)
n.272-777A=
c.9325T= (p.Tyr3109=)
c.9322T= (p.Tyr3108=)
c.9244T= (p.Tyr3082=)
c.9229T= (p.Tyr3077=)
c.2443T= (p.Tyr815=)
c.2422T= (p.Tyr808=)
n.2523-777A=
n.9320T=
5g.90716586_90716587insCTTACA560900615ADGRV1c.9304_9305insCTTA (p.Tyr3102SerfsTer2)
c.265+40377_265+40378insCTTA (n.265+40377_265+40378insCTTA)
n.4763_4764insCTTA
c.3111_3112insCTTA
n.2448_2449insCTTA
c.4033_4034insCTTA
c.2001_2002insCTTA
n.9317_9318insCTTA
c.9301_9302insCTTA (p.Tyr3101SerfsTer2)
c.9223_9224insCTTA (p.Tyr3075SerfsTer2)
c.6607_6608insCTTA (p.Tyr2203SerfsTer2)
n.272-778_272-777insTAAG
c.9325_9326insCTTA (p.Tyr3109SerfsTer2)
c.9322_9323insCTTA (p.Tyr3108SerfsTer2)
c.9244_9245insCTTA (p.Tyr3082SerfsTer2)
c.9229_9230insCTTA (p.Tyr3077SerfsTer2)
c.2443_2444insCTTA (p.Tyr815SerfsTer2)
c.2422_2423insCTTA (p.Tyr808SerfsTer2)
n.2523-778_2523-777insTAAG
n.9320_9321insCTTA
dbSNP gnomAD v2
5g.90716587A=CA1562870601ADGRV1c.9305A= (p.Tyr3102=)
c.265+40378A= (n.265+40378A=)
n.4764A=
c.3112A=
n.2449A=
c.4034A=
c.2002A=
n.9318A=
c.9302A= (p.Tyr3101=)
c.9224A= (p.Tyr3075=)
c.6608A= (p.Tyr2203=)
n.272-778T=
c.9326A= (p.Tyr3109=)
c.9323A= (p.Tyr3108=)
c.9245A= (p.Tyr3082=)
c.9230A= (p.Tyr3077=)
c.2444A= (p.Tyr815=)
c.2423A= (p.Tyr808=)
n.2523-778T=
n.9321A=
5g.90716587A>CCA360397328ADGRV1c.9305A>C (p.Tyr3102Ser)
c.265+40378A>C (n.265+40378A>C)
n.4764A>C
c.3112A>C
n.2449A>C
c.4034A>C
c.2002A>C
n.9318A>C
c.9302A>C (p.Tyr3101Ser)
c.9224A>C (p.Tyr3075Ser)
c.6608A>C (p.Tyr2203Ser)
n.272-778T>G
c.9326A>C (p.Tyr3109Ser)
c.9323A>C (p.Tyr3108Ser)
c.9245A>C (p.Tyr3082Ser)
c.9230A>C (p.Tyr3077Ser)
c.2444A>C (p.Tyr815Ser)
c.2423A>C (p.Tyr808Ser)
n.2523-778T>G
n.9321A>C
5g.90716587A>GCA360397331ADGRV1c.9305A>G (p.Tyr3102Cys)
c.265+40378A>G (n.265+40378A>G)
n.4764A>G
c.3112A>G
n.2449A>G
c.4034A>G
c.2002A>G
n.9318A>G
c.9302A>G (p.Tyr3101Cys)
c.9224A>G (p.Tyr3075Cys)
c.6608A>G (p.Tyr2203Cys)
n.272-778T>C
c.9326A>G (p.Tyr3109Cys)
c.9323A>G (p.Tyr3108Cys)
c.9245A>G (p.Tyr3082Cys)
c.9230A>G (p.Tyr3077Cys)
c.2444A>G (p.Tyr815Cys)
c.2423A>G (p.Tyr808Cys)
n.2523-778T>C
n.9321A>G
dbSNP
5g.90716587A>TCA360397330ADGRV1c.9305A>T (p.Tyr3102Phe)
c.265+40378A>T (n.265+40378A>T)
n.4764A>T
c.3112A>T
n.2449A>T
c.4034A>T
c.2002A>T
n.9318A>T
c.9302A>T (p.Tyr3101Phe)
c.9224A>T (p.Tyr3075Phe)
c.6608A>T (p.Tyr2203Phe)
n.272-778T>A
c.9326A>T (p.Tyr3109Phe)
c.9323A>T (p.Tyr3108Phe)
c.9245A>T (p.Tyr3082Phe)
c.9230A>T (p.Tyr3077Phe)
c.2444A>T (p.Tyr815Phe)
c.2423A>T (p.Tyr808Phe)
n.2523-778T>A
n.9321A>T
5g.90716588C>ACA360397332ADGRV1c.9306C>A (p.Tyr3102Ter)
c.265+40379C>A (n.265+40379C>A)
n.4765C>A
c.3113C>A
n.2450C>A
c.4035C>A
c.2003C>A
n.9319C>A
c.9303C>A (p.Tyr3101Ter)
c.9225C>A (p.Tyr3075Ter)
c.6609C>A (p.Tyr2203Ter)
n.272-779G>T
c.9327C>A (p.Tyr3109Ter)
c.9324C>A (p.Tyr3108Ter)
c.9246C>A (p.Tyr3082Ter)
c.9231C>A (p.Tyr3077Ter)
c.2445C>A (p.Tyr815Ter)
c.2424C>A (p.Tyr808Ter)
n.2523-779G>T
n.9322C>A
5g.90716588C=CA1562870602ADGRV1c.9306C= (p.Tyr3102=)
c.265+40379C= (n.265+40379C=)
n.4765C=
c.3113C=
n.2450C=
c.4035C=
c.2003C=
n.9319C=
c.9303C= (p.Tyr3101=)
c.9225C= (p.Tyr3075=)
c.6609C= (p.Tyr2203=)
n.272-779G=
c.9327C= (p.Tyr3109=)
c.9324C= (p.Tyr3108=)
c.9246C= (p.Tyr3082=)
c.9231C= (p.Tyr3077=)
c.2445C= (p.Tyr815=)
c.2424C= (p.Tyr808=)
n.2523-779G=
n.9322C=
5g.90716588C>GCA360397334ADGRV1c.9306C>G (p.Tyr3102Ter)
c.265+40379C>G (n.265+40379C>G)
n.4765C>G
c.3113C>G
n.2450C>G
c.4035C>G
c.2003C>G
n.9319C>G
c.9303C>G (p.Tyr3101Ter)
c.9225C>G (p.Tyr3075Ter)
c.6609C>G (p.Tyr2203Ter)
n.272-779G>C
c.9327C>G (p.Tyr3109Ter)
c.9324C>G (p.Tyr3108Ter)
c.9246C>G (p.Tyr3082Ter)
c.9231C>G (p.Tyr3077Ter)
c.2445C>G (p.Tyr815Ter)
c.2424C>G (p.Tyr808Ter)
n.2523-779G>C
n.9322C>G
5g.90716588C>TCA3340478ADGRV1c.9306C>T (p.Tyr3102=)
c.265+40379C>T (n.265+40379C>T)
n.4765C>T
c.3113C>T
n.2450C>T
c.4035C>T
c.2003C>T
n.9319C>T
c.9303C>T (p.Tyr3101=)
c.9225C>T (p.Tyr3075=)
c.6609C>T (p.Tyr2203=)
n.272-779G>A
c.9327C>T (p.Tyr3109=)
c.9324C>T (p.Tyr3108=)
c.9246C>T (p.Tyr3082=)
c.9231C>T (p.Tyr3077=)
c.2445C>T (p.Tyr815=)
c.2424C>T (p.Tyr808=)
n.2523-779G>A
n.9322C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90716589A=CA1562870603ADGRV1c.9307A= (p.Ile3103=)
c.265+40380A= (n.265+40380A=)
n.4766A=
c.3114A=
n.2451A=
c.4036A=
c.2004A=
n.9320A=
c.9304A= (p.Ile3102=)
c.9226A= (p.Ile3076=)
c.6610A= (p.Ile2204=)
n.272-780T=
c.9328A= (p.Ile3110=)
c.9325A= (p.Ile3109=)
c.9247A= (p.Ile3083=)
c.9232A= (p.Ile3078=)
c.2446A= (p.Ile816=)
c.2425A= (p.Ile809=)
n.2523-780T=
n.9323A=
5g.90716589A>CCA360397337ADGRV1c.9307A>C (p.Ile3103Leu)
c.265+40380A>C (n.265+40380A>C)
n.4766A>C
c.3114A>C
n.2451A>C
c.4036A>C
c.2004A>C
n.9320A>C
c.9304A>C (p.Ile3102Leu)
c.9226A>C (p.Ile3076Leu)
c.6610A>C (p.Ile2204Leu)
n.272-780T>G
c.9328A>C (p.Ile3110Leu)
c.9325A>C (p.Ile3109Leu)
c.9247A>C (p.Ile3083Leu)
c.9232A>C (p.Ile3078Leu)
c.2446A>C (p.Ile816Leu)
c.2425A>C (p.Ile809Leu)
n.2523-780T>G
n.9323A>C
5g.90716589A>GCA3340479ADGRV1c.9307A>G (p.Ile3103Val)
c.265+40380A>G (n.265+40380A>G)
n.4766A>G
c.3114A>G
n.2451A>G
c.4036A>G
c.2004A>G
n.9320A>G
c.9304A>G (p.Ile3102Val)
c.9226A>G (p.Ile3076Val)
c.6610A>G (p.Ile2204Val)
n.272-780T>C
c.9328A>G (p.Ile3110Val)
c.9325A>G (p.Ile3109Val)
c.9247A>G (p.Ile3083Val)
c.9232A>G (p.Ile3078Val)
c.2446A>G (p.Ile816Val)
c.2425A>G (p.Ile809Val)
n.2523-780T>C
n.9323A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90716589A>TCA360397339ADGRV1c.9307A>T (p.Ile3103Phe)
c.265+40380A>T (n.265+40380A>T)
n.4766A>T
c.3114A>T
n.2451A>T
c.4036A>T
c.2004A>T
n.9320A>T
c.9304A>T (p.Ile3102Phe)
c.9226A>T (p.Ile3076Phe)
c.6610A>T (p.Ile2204Phe)
n.272-780T>A
c.9328A>T (p.Ile3110Phe)
c.9325A>T (p.Ile3109Phe)
c.9247A>T (p.Ile3083Phe)
c.9232A>T (p.Ile3078Phe)
c.2446A>T (p.Ile816Phe)
c.2425A>T (p.Ile809Phe)
n.2523-780T>A
n.9323A>T
5g.90716590T>ACA360397341ADGRV1c.9308T>A (p.Ile3103Asn)
c.265+40381T>A (n.265+40381T>A)
n.4767T>A
c.3115T>A
n.2452T>A
c.4037T>A
c.2005T>A
n.9321T>A
c.9305T>A (p.Ile3102Asn)
c.9227T>A (p.Ile3076Asn)
c.6611T>A (p.Ile2204Asn)
n.272-781A>T
c.9329T>A (p.Ile3110Asn)
c.9326T>A (p.Ile3109Asn)
c.9248T>A (p.Ile3083Asn)
c.9233T>A (p.Ile3078Asn)
c.2447T>A (p.Ile816Asn)
c.2426T>A (p.Ile809Asn)
n.2523-781A>T
n.9324T>A
5g.90716590T>CCA360397342ADGRV1c.9308T>C (p.Ile3103Thr)
c.265+40381T>C (n.265+40381T>C)
n.4767T>C
c.3115T>C
n.2452T>C
c.4037T>C
c.2005T>C
n.9321T>C
c.9305T>C (p.Ile3102Thr)
c.9227T>C (p.Ile3076Thr)
c.6611T>C (p.Ile2204Thr)
n.272-781A>G
c.9329T>C (p.Ile3110Thr)
c.9326T>C (p.Ile3109Thr)
c.9248T>C (p.Ile3083Thr)
c.9233T>C (p.Ile3078Thr)
c.2447T>C (p.Ile816Thr)
c.2426T>C (p.Ile809Thr)
n.2523-781A>G
n.9324T>C
5g.90716590T>GCA360397343ADGRV1c.9308T>G (p.Ile3103Ser)
c.265+40381T>G (n.265+40381T>G)
n.4767T>G
c.3115T>G
n.2452T>G
c.4037T>G
c.2005T>G
n.9321T>G
c.9305T>G (p.Ile3102Ser)
c.9227T>G (p.Ile3076Ser)
c.6611T>G (p.Ile2204Ser)
n.272-781A>C
c.9329T>G (p.Ile3110Ser)
c.9326T>G (p.Ile3109Ser)
c.9248T>G (p.Ile3083Ser)
c.9233T>G (p.Ile3078Ser)
c.2447T>G (p.Ile816Ser)
c.2426T>G (p.Ile809Ser)
n.2523-781A>C
n.9324T>G
5g.90716591T>ACA445413310ADGRV1c.9309T>A (p.Ile3103=)
c.265+40382T>A (n.265+40382T>A)
n.4768T>A
c.3116T>A
n.2453T>A
c.4038T>A
c.2006T>A
n.9322T>A
c.9306T>A (p.Ile3102=)
c.9228T>A (p.Ile3076=)
c.6612T>A (p.Ile2204=)
n.272-782A>T
c.9330T>A (p.Ile3110=)
c.9327T>A (p.Ile3109=)
c.9249T>A (p.Ile3083=)
c.9234T>A (p.Ile3078=)
c.2448T>A (p.Ile816=)
c.2427T>A (p.Ile809=)
n.2523-782A>T
n.9325T>A
5g.90716591T>CCA445413311ADGRV1c.9309T>C (p.Ile3103=)
c.265+40382T>C (n.265+40382T>C)
n.4768T>C
c.3116T>C
n.2453T>C
c.4038T>C
c.2006T>C
n.9322T>C
c.9306T>C (p.Ile3102=)
c.9228T>C (p.Ile3076=)
c.6612T>C (p.Ile2204=)
n.272-782A>G
c.9330T>C (p.Ile3110=)
c.9327T>C (p.Ile3109=)
c.9249T>C (p.Ile3083=)
c.9234T>C (p.Ile3078=)
c.2448T>C (p.Ile816=)
c.2427T>C (p.Ile809=)
n.2523-782A>G
n.9325T>C
5g.90716591T>GCA360397346ADGRV1c.9309T>G (p.Ile3103Met)
c.265+40382T>G (n.265+40382T>G)
n.4768T>G
c.3116T>G
n.2453T>G
c.4038T>G
c.2006T>G
n.9322T>G
c.9306T>G (p.Ile3102Met)
c.9228T>G (p.Ile3076Met)
c.6612T>G (p.Ile2204Met)
n.272-782A>C
c.9330T>G (p.Ile3110Met)
c.9327T>G (p.Ile3109Met)
c.9249T>G (p.Ile3083Met)
c.9234T>G (p.Ile3078Met)
c.2448T>G (p.Ile816Met)
c.2427T>G (p.Ile809Met)
n.2523-782A>C
n.9325T>G
5g.90716592G>ACA360397350ADGRV1c.9310G>A (p.Val3104Ile)
c.265+40383G>A (n.265+40383G>A)
n.4769G>A
c.3117G>A
n.2454G>A
c.4039G>A
c.2007G>A
n.9323G>A
c.9307G>A (p.Val3103Ile)
c.9229G>A (p.Val3077Ile)
c.6613G>A (p.Val2205Ile)
n.272-783C>T
c.9331G>A (p.Val3111Ile)
c.9328G>A (p.Val3110Ile)
c.9250G>A (p.Val3084Ile)
c.9235G>A (p.Val3079Ile)
c.2449G>A (p.Val817Ile)
c.2428G>A (p.Val810Ile)
n.2523-783C>T
n.9326G>A
5g.90716592G>CCA360397349ADGRV1c.9310G>C (p.Val3104Leu)
c.265+40383G>C (n.265+40383G>C)
n.4769G>C
c.3117G>C
n.2454G>C
c.4039G>C
c.2007G>C
n.9323G>C
c.9307G>C (p.Val3103Leu)
c.9229G>C (p.Val3077Leu)
c.6613G>C (p.Val2205Leu)
n.272-783C>G
c.9331G>C (p.Val3111Leu)
c.9328G>C (p.Val3110Leu)
c.9250G>C (p.Val3084Leu)
c.9235G>C (p.Val3079Leu)
c.2449G>C (p.Val817Leu)
c.2428G>C (p.Val810Leu)
n.2523-783C>G
n.9326G>C
5g.90716592G>TCA360397347ADGRV1c.9310G>T (p.Val3104Phe)
c.265+40383G>T (n.265+40383G>T)
n.4769G>T
c.3117G>T
n.2454G>T
c.4039G>T
c.2007G>T
n.9323G>T
c.9307G>T (p.Val3103Phe)
c.9229G>T (p.Val3077Phe)
c.6613G>T (p.Val2205Phe)
n.272-783C>A
c.9331G>T (p.Val3111Phe)
c.9328G>T (p.Val3110Phe)
c.9250G>T (p.Val3084Phe)
c.9235G>T (p.Val3079Phe)
c.2449G>T (p.Val817Phe)
c.2428G>T (p.Val810Phe)
n.2523-783C>A
n.9326G>T
dbSNP gnomAD v3 gnomAD v4
5g.90716593T>ACA360397352ADGRV1c.9311T>A (p.Val3104Asp)
c.265+40384T>A (n.265+40384T>A)
n.4770T>A
c.3118T>A
n.2455T>A
c.4040T>A
c.2008T>A
n.9324T>A
c.9308T>A (p.Val3103Asp)
c.9230T>A (p.Val3077Asp)
c.6614T>A (p.Val2205Asp)
n.272-784A>T
c.9332T>A (p.Val3111Asp)
c.9329T>A (p.Val3110Asp)
c.9251T>A (p.Val3084Asp)
c.9236T>A (p.Val3079Asp)
c.2450T>A (p.Val817Asp)
c.2429T>A (p.Val810Asp)
n.2523-784A>T
n.9327T>A
5g.90716593T>CCA360397356ADGRV1c.9311T>C (p.Val3104Ala)
c.265+40384T>C (n.265+40384T>C)
n.4770T>C
c.3118T>C
n.2455T>C
c.4040T>C
c.2008T>C
n.9324T>C
c.9308T>C (p.Val3103Ala)
c.9230T>C (p.Val3077Ala)
c.6614T>C (p.Val2205Ala)
n.272-784A>G
c.9332T>C (p.Val3111Ala)
c.9329T>C (p.Val3110Ala)
c.9251T>C (p.Val3084Ala)
c.9236T>C (p.Val3079Ala)
c.2450T>C (p.Val817Ala)
c.2429T>C (p.Val810Ala)
n.2523-784A>G
n.9327T>C
5g.90716593T>GCA360397354ADGRV1c.9311T>G (p.Val3104Gly)
c.265+40384T>G (n.265+40384T>G)
n.4770T>G
c.3118T>G
n.2455T>G
c.4040T>G
c.2008T>G
n.9324T>G
c.9308T>G (p.Val3103Gly)
c.9230T>G (p.Val3077Gly)
c.6614T>G (p.Val2205Gly)
n.272-784A>C
c.9332T>G (p.Val3111Gly)
c.9329T>G (p.Val3110Gly)
c.9251T>G (p.Val3084Gly)
c.9236T>G (p.Val3079Gly)
c.2450T>G (p.Val817Gly)
c.2429T>G (p.Val810Gly)
n.2523-784A>C
n.9327T>G
5g.90716594T>ACA445413612ADGRV1c.9312T>A (p.Val3104=)
c.265+40385T>A (n.265+40385T>A)
n.4771T>A
c.3119T>A
n.2456T>A
c.4041T>A
c.2009T>A
n.9325T>A
c.9309T>A (p.Val3103=)
c.9231T>A (p.Val3077=)
c.6615T>A (p.Val2205=)
n.272-785A>T
c.9333T>A (p.Val3111=)
c.9330T>A (p.Val3110=)
c.9252T>A (p.Val3084=)
c.9237T>A (p.Val3079=)
c.2451T>A (p.Val817=)
c.2430T>A (p.Val810=)
n.2523-785A>T
n.9328T>A
5g.90716594T>CCA445413610ADGRV1c.9312T>C (p.Val3104=)
c.265+40385T>C (n.265+40385T>C)
n.4771T>C
c.3119T>C
n.2456T>C
c.4041T>C
c.2009T>C
n.9325T>C
c.9309T>C (p.Val3103=)
c.9231T>C (p.Val3077=)
c.6615T>C (p.Val2205=)
n.272-785A>G
c.9333T>C (p.Val3111=)
c.9330T>C (p.Val3110=)
c.9252T>C (p.Val3084=)
c.9237T>C (p.Val3079=)
c.2451T>C (p.Val817=)
c.2430T>C (p.Val810=)
n.2523-785A>G
n.9328T>C
5g.90716594T>GCA445413607ADGRV1c.9312T>G (p.Val3104=)
c.265+40385T>G (n.265+40385T>G)
n.4771T>G
c.3119T>G
n.2456T>G
c.4041T>G
c.2009T>G
n.9325T>G
c.9309T>G (p.Val3103=)
c.9231T>G (p.Val3077=)
c.6615T>G (p.Val2205=)
n.272-785A>C
c.9333T>G (p.Val3111=)
c.9330T>G (p.Val3110=)
c.9252T>G (p.Val3084=)
c.9237T>G (p.Val3079=)
c.2451T>G (p.Val817=)
c.2430T>G (p.Val810=)
n.2523-785A>C
n.9328T>G
5g.90716595C>ACA445413616ADGRV1c.9313C>A (p.Arg3105=)
c.265+40386C>A (n.265+40386C>A)
n.4772C>A
c.3120C>A
n.2457C>A
c.4042C>A
c.2010C>A
n.9326C>A
c.9310C>A (p.Arg3104=)
c.9232C>A (p.Arg3078=)
c.6616C>A (p.Arg2206=)
n.272-786G>T
c.9334C>A (p.Arg3112=)
c.9331C>A (p.Arg3111=)
c.9253C>A (p.Arg3085=)
c.9238C>A (p.Arg3080=)
c.2452C>A (p.Arg818=)
c.2431C>A (p.Arg811=)
n.2523-786G>T
n.9329C>A
5g.90716595C=CA1562870604ADGRV1c.9313C= (p.Arg3105=)
c.265+40386C= (n.265+40386C=)
n.4772C=
c.3120C=
n.2457C=
c.4042C=
c.2010C=
n.9326C=
c.9310C= (p.Arg3104=)
c.9232C= (p.Arg3078=)
c.6616C= (p.Arg2206=)
n.272-786G=
c.9334C= (p.Arg3112=)
c.9331C= (p.Arg3111=)
c.9253C= (p.Arg3085=)
c.9238C= (p.Arg3080=)
c.2452C= (p.Arg818=)
c.2431C= (p.Arg811=)
n.2523-786G=
n.9329C=
5g.90716595C>GCA360397357ADGRV1c.9313C>G (p.Arg3105Gly)
c.265+40386C>G (n.265+40386C>G)
n.4772C>G
c.3120C>G
n.2457C>G
c.4042C>G
c.2010C>G
n.9326C>G
c.9310C>G (p.Arg3104Gly)
c.9232C>G (p.Arg3078Gly)
c.6616C>G (p.Arg2206Gly)
n.272-786G>C
c.9334C>G (p.Arg3112Gly)
c.9331C>G (p.Arg3111Gly)
c.9253C>G (p.Arg3085Gly)
c.9238C>G (p.Arg3080Gly)
c.2452C>G (p.Arg818Gly)
c.2431C>G (p.Arg811Gly)
n.2523-786G>C
n.9329C>G
5g.90716595C>TCA3340480ADGRV1c.9313C>T (p.Arg3105Trp)
c.265+40386C>T (n.265+40386C>T)
n.4772C>T
c.3120C>T
n.2457C>T
c.4042C>T
c.2010C>T
n.9326C>T
c.9310C>T (p.Arg3104Trp)
c.9232C>T (p.Arg3078Trp)
c.6616C>T (p.Arg2206Trp)
n.272-786G>A
c.9334C>T (p.Arg3112Trp)
c.9331C>T (p.Arg3111Trp)
c.9253C>T (p.Arg3085Trp)
c.9238C>T (p.Arg3080Trp)
c.2452C>T (p.Arg818Trp)
c.2431C>T (p.Arg811Trp)
n.2523-786G>A
n.9329C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90716596G>ACA3340481ADGRV1c.9314G>A (p.Arg3105Gln)
c.265+40387G>A (n.265+40387G>A)
n.4773G>A
c.3121G>A
n.2458G>A
c.4043G>A
c.2011G>A
n.9327G>A
c.9311G>A (p.Arg3104Gln)
c.9233G>A (p.Arg3078Gln)
c.6617G>A (p.Arg2206Gln)
n.272-787C>T
c.9335G>A (p.Arg3112Gln)
c.9332G>A (p.Arg3111Gln)
c.9254G>A (p.Arg3085Gln)
c.9239G>A (p.Arg3080Gln)
c.2453G>A (p.Arg818Gln)
c.2432G>A (p.Arg811Gln)
n.2523-787C>T
n.9330G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90716596G>CCA360397361ADGRV1c.9314G>C (p.Arg3105Pro)
c.265+40387G>C (n.265+40387G>C)
n.4773G>C
c.3121G>C
n.2458G>C
c.4043G>C
c.2011G>C
n.9327G>C
c.9311G>C (p.Arg3104Pro)
c.9233G>C (p.Arg3078Pro)
c.6617G>C (p.Arg2206Pro)
n.272-787C>G
c.9335G>C (p.Arg3112Pro)
c.9332G>C (p.Arg3111Pro)
c.9254G>C (p.Arg3085Pro)
c.9239G>C (p.Arg3080Pro)
c.2453G>C (p.Arg818Pro)
c.2432G>C (p.Arg811Pro)
n.2523-787C>G
n.9330G>C
5g.90716596G=CA1562870605ADGRV1c.9314G= (p.Arg3105=)
c.265+40387G= (n.265+40387G=)
n.4773G=
c.3121G=
n.2458G=
c.4043G=
c.2011G=
n.9327G=
c.9311G= (p.Arg3104=)
c.9233G= (p.Arg3078=)
c.6617G= (p.Arg2206=)
n.272-787C=
c.9335G= (p.Arg3112=)
c.9332G= (p.Arg3111=)
c.9254G= (p.Arg3085=)
c.9239G= (p.Arg3080=)
c.2453G= (p.Arg818=)
c.2432G= (p.Arg811=)
n.2523-787C=
n.9330G=
5g.90716596G>TCA360397362ADGRV1c.9314G>T (p.Arg3105Leu)
c.265+40387G>T (n.265+40387G>T)
n.4773G>T
c.3121G>T
n.2458G>T
c.4043G>T
c.2011G>T
n.9327G>T
c.9311G>T (p.Arg3104Leu)
c.9233G>T (p.Arg3078Leu)
c.6617G>T (p.Arg2206Leu)
n.272-787C>A
c.9335G>T (p.Arg3112Leu)
c.9332G>T (p.Arg3111Leu)
c.9254G>T (p.Arg3085Leu)
c.9239G>T (p.Arg3080Leu)
c.2453G>T (p.Arg818Leu)
c.2432G>T (p.Arg811Leu)
n.2523-787C>A
n.9330G>T
5g.90716598dupCA2674547019ADGRV1c.9316dup (p.Glu3106GlyfsTer24)
c.265+40389dup (n.265+40389dup)
n.4775dup
c.3123dup
n.2460dup
c.4045dup
c.2013dup
n.9329dup
c.9313dup (p.Glu3105GlyfsTer24)
c.9235dup (p.Glu3079GlyfsTer24)
c.6619dup (p.Glu2207GlyfsTer24)
n.272-787dup
c.9337dup (p.Glu3113GlyfsTer24)
c.9334dup (p.Glu3112GlyfsTer24)
c.9256dup (p.Glu3086GlyfsTer24)
c.9241dup (p.Glu3081GlyfsTer24)
c.2455dup (p.Glu819GlyfsTer24)
c.2434dup (p.Glu812GlyfsTer24)
n.2523-787dup
n.9332dup
ClinVar gnomAD v4
5g.90716597G>ACA445413620ADGRV1c.9315G>A (p.Arg3105=)
c.265+40388G>A (n.265+40388G>A)
n.4774G>A
c.3122G>A
n.2459G>A
c.4044G>A
c.2012G>A
n.9328G>A
c.9312G>A (p.Arg3104=)
c.9234G>A (p.Arg3078=)
c.6618G>A (p.Arg2206=)
n.272-788C>T
c.9336G>A (p.Arg3112=)
c.9333G>A (p.Arg3111=)
c.9255G>A (p.Arg3085=)
c.9240G>A (p.Arg3080=)
c.2454G>A (p.Arg818=)
c.2433G>A (p.Arg811=)
n.2523-788C>T
n.9331G>A
5g.90716597G>CCA445413619ADGRV1c.9315G>C (p.Arg3105=)
c.265+40388G>C (n.265+40388G>C)
n.4774G>C
c.3122G>C
n.2459G>C
c.4044G>C
c.2012G>C
n.9328G>C
c.9312G>C (p.Arg3104=)
c.9234G>C (p.Arg3078=)
c.6618G>C (p.Arg2206=)
n.272-788C>G
c.9336G>C (p.Arg3112=)
c.9333G>C (p.Arg3111=)
c.9255G>C (p.Arg3085=)
c.9240G>C (p.Arg3080=)
c.2454G>C (p.Arg818=)
c.2433G>C (p.Arg811=)
n.2523-788C>G
n.9331G>C
5g.90716597G>TCA445413617ADGRV1c.9315G>T (p.Arg3105=)
c.265+40388G>T (n.265+40388G>T)
n.4774G>T
c.3122G>T
n.2459G>T
c.4044G>T
c.2012G>T
n.9328G>T
c.9312G>T (p.Arg3104=)
c.9234G>T (p.Arg3078=)
c.6618G>T (p.Arg2206=)
n.272-788C>A
c.9336G>T (p.Arg3112=)
c.9333G>T (p.Arg3111=)
c.9255G>T (p.Arg3085=)
c.9240G>T (p.Arg3080=)
c.2454G>T (p.Arg818=)
c.2433G>T (p.Arg811=)
n.2523-788C>A
n.9331G>T
5g.90716598G>ACA360397364ADGRV1c.9316G>A (p.Glu3106Lys)
c.265+40389G>A (n.265+40389G>A)
n.4775G>A
c.3123G>A
n.2460G>A
c.4045G>A
c.2013G>A
n.9329G>A
c.9313G>A (p.Glu3105Lys)
c.9235G>A (p.Glu3079Lys)
c.6619G>A (p.Glu2207Lys)
n.272-789C>T
c.9337G>A (p.Glu3113Lys)
c.9334G>A (p.Glu3112Lys)
c.9256G>A (p.Glu3086Lys)
c.9241G>A (p.Glu3081Lys)
c.2455G>A (p.Glu819Lys)
c.2434G>A (p.Glu812Lys)
n.2523-789C>T
n.9332G>A
5g.90716598G>CCA360397365ADGRV1c.9316G>C (p.Glu3106Gln)
c.265+40389G>C (n.265+40389G>C)
n.4775G>C
c.3123G>C
n.2460G>C
c.4045G>C
c.2013G>C
n.9329G>C
c.9313G>C (p.Glu3105Gln)
c.9235G>C (p.Glu3079Gln)
c.6619G>C (p.Glu2207Gln)
n.272-789C>G
c.9337G>C (p.Glu3113Gln)
c.9334G>C (p.Glu3112Gln)
c.9256G>C (p.Glu3086Gln)
c.9241G>C (p.Glu3081Gln)
c.2455G>C (p.Glu819Gln)
c.2434G>C (p.Glu812Gln)
n.2523-789C>G
n.9332G>C
5g.90716598G>TCA360397366ADGRV1c.9316G>T (p.Glu3106Ter)
c.265+40389G>T (n.265+40389G>T)
n.4775G>T
c.3123G>T
n.2460G>T
c.4045G>T
c.2013G>T
n.9329G>T
c.9313G>T (p.Glu3105Ter)
c.9235G>T (p.Glu3079Ter)
c.6619G>T (p.Glu2207Ter)
n.272-789C>A
c.9337G>T (p.Glu3113Ter)
c.9334G>T (p.Glu3112Ter)
c.9256G>T (p.Glu3086Ter)
c.9241G>T (p.Glu3081Ter)
c.2455G>T (p.Glu819Ter)
c.2434G>T (p.Glu812Ter)
n.2523-789C>A
n.9332G>T
5g.90716599A=CA1562870606ADGRV1c.9317A= (p.Glu3106=)
c.265+40390A= (n.265+40390A=)
n.4776A=
c.3124A=
n.2461A=
c.4046A=
c.2014A=
n.9330A=
c.9314A= (p.Glu3105=)
c.9236A= (p.Glu3079=)
c.6620A= (p.Glu2207=)
n.272-790T=
c.9338A= (p.Glu3113=)
c.9335A= (p.Glu3112=)
c.9257A= (p.Glu3086=)
c.9242A= (p.Glu3081=)
c.2456A= (p.Glu819=)
c.2435A= (p.Glu812=)
n.2523-790T=
n.9333A=
5g.90716599A>CCA360397368ADGRV1c.9317A>C (p.Glu3106Ala)
c.265+40390A>C (n.265+40390A>C)
n.4776A>C
c.3124A>C
n.2461A>C
c.4046A>C
c.2014A>C
n.9330A>C
c.9314A>C (p.Glu3105Ala)
c.9236A>C (p.Glu3079Ala)
c.6620A>C (p.Glu2207Ala)
n.272-790T>G
c.9338A>C (p.Glu3113Ala)
c.9335A>C (p.Glu3112Ala)
c.9257A>C (p.Glu3086Ala)
c.9242A>C (p.Glu3081Ala)
c.2456A>C (p.Glu819Ala)
c.2435A>C (p.Glu812Ala)
n.2523-790T>G
n.9333A>C
ClinVar dbSNP gnomAD v4
5g.90716599A>GCA360397369ADGRV1c.9317A>G (p.Glu3106Gly)
c.265+40390A>G (n.265+40390A>G)
n.4776A>G
c.3124A>G
n.2461A>G
c.4046A>G
c.2014A>G
n.9330A>G
c.9314A>G (p.Glu3105Gly)
c.9236A>G (p.Glu3079Gly)
c.6620A>G (p.Glu2207Gly)
n.272-790T>C
c.9338A>G (p.Glu3113Gly)
c.9335A>G (p.Glu3112Gly)
c.9257A>G (p.Glu3086Gly)
c.9242A>G (p.Glu3081Gly)
c.2456A>G (p.Glu819Gly)
c.2435A>G (p.Glu812Gly)
n.2523-790T>C
n.9333A>G
5g.90716599A>TCA360397371ADGRV1c.9317A>T (p.Glu3106Val)
c.265+40390A>T (n.265+40390A>T)
n.4776A>T
c.3124A>T
n.2461A>T
c.4046A>T
c.2014A>T
n.9330A>T
c.9314A>T (p.Glu3105Val)
c.9236A>T (p.Glu3079Val)
c.6620A>T (p.Glu2207Val)
n.272-790T>A
c.9338A>T (p.Glu3113Val)
c.9335A>T (p.Glu3112Val)
c.9257A>T (p.Glu3086Val)
c.9242A>T (p.Glu3081Val)
c.2456A>T (p.Glu819Val)
c.2435A>T (p.Glu812Val)
n.2523-790T>A
n.9333A>T
5g.90716600A>CCA360397375ADGRV1c.9318A>C (p.Glu3106Asp)
c.265+40391A>C (n.265+40391A>C)
n.4777A>C
c.3125A>C
n.2462A>C
c.4047A>C
c.2015A>C
n.9331A>C
c.9315A>C (p.Glu3105Asp)
c.9237A>C (p.Glu3079Asp)
c.6621A>C (p.Glu2207Asp)
n.272-791T>G
c.9339A>C (p.Glu3113Asp)
c.9336A>C (p.Glu3112Asp)
c.9258A>C (p.Glu3086Asp)
c.9243A>C (p.Glu3081Asp)
c.2457A>C (p.Glu819Asp)
c.2436A>C (p.Glu812Asp)
n.2523-791T>G
n.9334A>C
5g.90716600A>GCA445413627ADGRV1c.9318A>G (p.Glu3106=)
c.265+40391A>G (n.265+40391A>G)
n.4777A>G
c.3125A>G
n.2462A>G
c.4047A>G
c.2015A>G
n.9331A>G
c.9315A>G (p.Glu3105=)
c.9237A>G (p.Glu3079=)
c.6621A>G (p.Glu2207=)
n.272-791T>C
c.9339A>G (p.Glu3113=)
c.9336A>G (p.Glu3112=)
c.9258A>G (p.Glu3086=)
c.9243A>G (p.Glu3081=)
c.2457A>G (p.Glu819=)
c.2436A>G (p.Glu812=)
n.2523-791T>C
n.9334A>G
5g.90716600A>TCA360397373ADGRV1c.9318A>T (p.Glu3106Asp)
c.265+40391A>T (n.265+40391A>T)
n.4777A>T
c.3125A>T
n.2462A>T
c.4047A>T
c.2015A>T
n.9331A>T
c.9315A>T (p.Glu3105Asp)
c.9237A>T (p.Glu3079Asp)
c.6621A>T (p.Glu2207Asp)
n.272-791T>A
c.9339A>T (p.Glu3113Asp)
c.9336A>T (p.Glu3112Asp)
c.9258A>T (p.Glu3086Asp)
c.9243A>T (p.Glu3081Asp)
c.2457A>T (p.Glu819Asp)
c.2436A>T (p.Glu812Asp)
n.2523-791T>A
n.9334A>T
5g.90716601C>ACA360397376ADGRV1c.9319C>A (p.Pro3107Thr)
c.265+40392C>A (n.265+40392C>A)
n.4778C>A
c.3126C>A
n.2463C>A
c.4048C>A
c.2016C>A
n.9332C>A
c.9316C>A (p.Pro3106Thr)
c.9238C>A (p.Pro3080Thr)
c.6622C>A (p.Pro2208Thr)
n.272-792G>T
c.9340C>A (p.Pro3114Thr)
c.9337C>A (p.Pro3113Thr)
c.9259C>A (p.Pro3087Thr)
c.9244C>A (p.Pro3082Thr)
c.2458C>A (p.Pro820Thr)
c.2437C>A (p.Pro813Thr)
n.2523-792G>T
n.9335C>A
5g.90716601C>GCA360397377ADGRV1c.9319C>G (p.Pro3107Ala)
c.265+40392C>G (n.265+40392C>G)
n.4778C>G
c.3126C>G
n.2463C>G
c.4048C>G
c.2016C>G
n.9332C>G
c.9316C>G (p.Pro3106Ala)
c.9238C>G (p.Pro3080Ala)
c.6622C>G (p.Pro2208Ala)
n.272-792G>C
c.9340C>G (p.Pro3114Ala)
c.9337C>G (p.Pro3113Ala)
c.9259C>G (p.Pro3087Ala)
c.9244C>G (p.Pro3082Ala)
c.2458C>G (p.Pro820Ala)
c.2437C>G (p.Pro813Ala)
n.2523-792G>C
n.9335C>G
gnomAD v4
5g.90716601C>TCA360397379ADGRV1c.9319C>T (p.Pro3107Ser)
c.265+40392C>T (n.265+40392C>T)
n.4778C>T
c.3126C>T
n.2463C>T
c.4048C>T
c.2016C>T
n.9332C>T
c.9316C>T (p.Pro3106Ser)
c.9238C>T (p.Pro3080Ser)
c.6622C>T (p.Pro2208Ser)
n.272-792G>A
c.9340C>T (p.Pro3114Ser)
c.9337C>T (p.Pro3113Ser)
c.9259C>T (p.Pro3087Ser)
c.9244C>T (p.Pro3082Ser)
c.2458C>T (p.Pro820Ser)
c.2437C>T (p.Pro813Ser)
n.2523-792G>A
n.9335C>T
5g.90716602C>ACA360397381ADGRV1c.9320C>A (p.Pro3107His)
c.265+40393C>A (n.265+40393C>A)
n.4779C>A
c.3127C>A
n.2464C>A
c.4049C>A
c.2017C>A
n.9333C>A
c.9317C>A (p.Pro3106His)
c.9239C>A (p.Pro3080His)
c.6623C>A (p.Pro2208His)
n.272-793G>T
c.9341C>A (p.Pro3114His)
c.9338C>A (p.Pro3113His)
c.9260C>A (p.Pro3087His)
c.9245C>A (p.Pro3082His)
c.2459C>A (p.Pro820His)
c.2438C>A (p.Pro813His)
n.2523-793G>T
n.9336C>A
5g.90716602C>GCA360397382ADGRV1c.9320C>G (p.Pro3107Arg)
c.265+40393C>G (n.265+40393C>G)
n.4779C>G
c.3127C>G
n.2464C>G
c.4049C>G
c.2017C>G
n.9333C>G
c.9317C>G (p.Pro3106Arg)
c.9239C>G (p.Pro3080Arg)
c.6623C>G (p.Pro2208Arg)
n.272-793G>C
c.9341C>G (p.Pro3114Arg)
c.9338C>G (p.Pro3113Arg)
c.9260C>G (p.Pro3087Arg)
c.9245C>G (p.Pro3082Arg)
c.2459C>G (p.Pro820Arg)
c.2438C>G (p.Pro813Arg)
n.2523-793G>C
n.9336C>G
gnomAD v4
5g.90716602C>TCA360397384ADGRV1c.9320C>T (p.Pro3107Leu)
c.265+40393C>T (n.265+40393C>T)
n.4779C>T
c.3127C>T
n.2464C>T
c.4049C>T
c.2017C>T
n.9333C>T
c.9317C>T (p.Pro3106Leu)
c.9239C>T (p.Pro3080Leu)
c.6623C>T (p.Pro2208Leu)
n.272-793G>A
c.9341C>T (p.Pro3114Leu)
c.9338C>T (p.Pro3113Leu)
c.9260C>T (p.Pro3087Leu)
c.9245C>T (p.Pro3082Leu)
c.2459C>T (p.Pro820Leu)
c.2438C>T (p.Pro813Leu)
n.2523-793G>A
n.9336C>T
5g.90716603T>ACA445413639ADGRV1c.9321T>A (p.Pro3107=)
c.265+40394T>A (n.265+40394T>A)
n.4780T>A
c.3128T>A
n.2465T>A
c.4050T>A
c.2018T>A
n.9334T>A
c.9318T>A (p.Pro3106=)
c.9240T>A (p.Pro3080=)
c.6624T>A (p.Pro2208=)
n.272-794A>T
c.9342T>A (p.Pro3114=)
c.9339T>A (p.Pro3113=)
c.9261T>A (p.Pro3087=)
c.9246T>A (p.Pro3082=)
c.2460T>A (p.Pro820=)
c.2439T>A (p.Pro813=)
n.2523-794A>T
n.9337T>A
5g.90716603T>CCA445413642ADGRV1c.9321T>C (p.Pro3107=)
c.265+40394T>C (n.265+40394T>C)
n.4780T>C
c.3128T>C
n.2465T>C
c.4050T>C
c.2018T>C
n.9334T>C
c.9318T>C (p.Pro3106=)
c.9240T>C (p.Pro3080=)
c.6624T>C (p.Pro2208=)
n.272-794A>G
c.9342T>C (p.Pro3114=)
c.9339T>C (p.Pro3113=)
c.9261T>C (p.Pro3087=)
c.9246T>C (p.Pro3082=)
c.2460T>C (p.Pro820=)
c.2439T>C (p.Pro813=)
n.2523-794A>G
n.9337T>C
dbSNP
5g.90716603T>GCA445413643ADGRV1c.9321T>G (p.Pro3107=)
c.265+40394T>G (n.265+40394T>G)
n.4780T>G
c.3128T>G
n.2465T>G
c.4050T>G
c.2018T>G
n.9334T>G
c.9318T>G (p.Pro3106=)
c.9240T>G (p.Pro3080=)
c.6624T>G (p.Pro2208=)
n.272-794A>C
c.9342T>G (p.Pro3114=)
c.9339T>G (p.Pro3113=)
c.9261T>G (p.Pro3087=)
c.9246T>G (p.Pro3082=)
c.2460T>G (p.Pro820=)
c.2439T>G (p.Pro813=)
n.2523-794A>C
n.9337T>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90716603T=CA1562870607ADGRV1c.9321T= (p.Pro3107=)
c.265+40394T= (n.265+40394T=)
n.4780T=
c.3128T=
n.2465T=
c.4050T=
c.2018T=
n.9334T=
c.9318T= (p.Pro3106=)
c.9240T= (p.Pro3080=)
c.6624T= (p.Pro2208=)
n.272-794A=
c.9342T= (p.Pro3114=)
c.9339T= (p.Pro3113=)
c.9261T= (p.Pro3087=)
c.9246T= (p.Pro3082=)
c.2460T= (p.Pro820=)
c.2439T= (p.Pro813=)
n.2523-794A=
n.9337T=
5g.90716604G>ACA360397386ADGRV1c.9322G>A (p.Ala3108Thr)
c.265+40395G>A (n.265+40395G>A)
n.4781G>A
c.3129G>A
n.2466G>A
c.4051G>A
c.2019G>A
n.9335G>A
c.9319G>A (p.Ala3107Thr)
c.9241G>A (p.Ala3081Thr)
c.6625G>A (p.Ala2209Thr)
n.272-795C>T
c.9343G>A (p.Ala3115Thr)
c.9340G>A (p.Ala3114Thr)
c.9262G>A (p.Ala3088Thr)
c.9247G>A (p.Ala3083Thr)
c.2461G>A (p.Ala821Thr)
c.2440G>A (p.Ala814Thr)
n.2523-795C>T
n.9338G>A
gnomAD v4
5g.90716604G>CCA360397388ADGRV1c.9322G>C (p.Ala3108Pro)
c.265+40395G>C (n.265+40395G>C)
n.4781G>C
c.3129G>C
n.2466G>C
c.4051G>C
c.2019G>C
n.9335G>C
c.9319G>C (p.Ala3107Pro)
c.9241G>C (p.Ala3081Pro)
c.6625G>C (p.Ala2209Pro)
n.272-795C>G
c.9343G>C (p.Ala3115Pro)
c.9340G>C (p.Ala3114Pro)
c.9262G>C (p.Ala3088Pro)
c.9247G>C (p.Ala3083Pro)
c.2461G>C (p.Ala821Pro)
c.2440G>C (p.Ala814Pro)
n.2523-795C>G
n.9338G>C
5g.90716604G>TCA360397389ADGRV1c.9322G>T (p.Ala3108Ser)
c.265+40395G>T (n.265+40395G>T)
n.4781G>T
c.3129G>T
n.2466G>T
c.4051G>T
c.2019G>T
n.9335G>T
c.9319G>T (p.Ala3107Ser)
c.9241G>T (p.Ala3081Ser)
c.6625G>T (p.Ala2209Ser)
n.272-795C>A
c.9343G>T (p.Ala3115Ser)
c.9340G>T (p.Ala3114Ser)
c.9262G>T (p.Ala3088Ser)
c.9247G>T (p.Ala3083Ser)
c.2461G>T (p.Ala821Ser)
c.2440G>T (p.Ala814Ser)
n.2523-795C>A
n.9338G>T
5g.90716605C>ACA360397391ADGRV1c.9323C>A (p.Ala3108Glu)
c.265+40396C>A (n.265+40396C>A)
n.4782C>A
c.3130C>A
n.2467C>A
c.4052C>A
c.2020C>A
n.9336C>A
c.9320C>A (p.Ala3107Glu)
c.9242C>A (p.Ala3081Glu)
c.6626C>A (p.Ala2209Glu)
n.272-796G>T
c.9344C>A (p.Ala3115Glu)
c.9341C>A (p.Ala3114Glu)
c.9263C>A (p.Ala3088Glu)
c.9248C>A (p.Ala3083Glu)
c.2462C>A (p.Ala821Glu)
c.2441C>A (p.Ala814Glu)
n.2523-796G>T
n.9339C>A
5g.90716605C>GCA360397393ADGRV1c.9323C>G (p.Ala3108Gly)
c.265+40396C>G (n.265+40396C>G)
n.4782C>G
c.3130C>G
n.2467C>G
c.4052C>G
c.2020C>G
n.9336C>G
c.9320C>G (p.Ala3107Gly)
c.9242C>G (p.Ala3081Gly)
c.6626C>G (p.Ala2209Gly)
n.272-796G>C
c.9344C>G (p.Ala3115Gly)
c.9341C>G (p.Ala3114Gly)
c.9263C>G (p.Ala3088Gly)
c.9248C>G (p.Ala3083Gly)
c.2462C>G (p.Ala821Gly)
c.2441C>G (p.Ala814Gly)
n.2523-796G>C
n.9339C>G
5g.90716605C>TCA360397395ADGRV1c.9323C>T (p.Ala3108Val)
c.265+40396C>T (n.265+40396C>T)
n.4782C>T
c.3130C>T
n.2467C>T
c.4052C>T
c.2020C>T
n.9336C>T
c.9320C>T (p.Ala3107Val)
c.9242C>T (p.Ala3081Val)
c.6626C>T (p.Ala2209Val)
n.272-796G>A
c.9344C>T (p.Ala3115Val)
c.9341C>T (p.Ala3114Val)
c.9263C>T (p.Ala3088Val)
c.9248C>T (p.Ala3083Val)
c.2462C>T (p.Ala821Val)
c.2441C>T (p.Ala814Val)
n.2523-796G>A
n.9339C>T
5g.90716606A=CA1562870608ADGRV1c.9324A= (p.Ala3108=)
c.265+40397A= (n.265+40397A=)
n.4783A=
c.3131A=
n.2468A=
c.4053A=
c.2021A=
n.9337A=
c.9321A= (p.Ala3107=)
c.9243A= (p.Ala3081=)
c.6627A= (p.Ala2209=)
n.272-797T=
c.9345A= (p.Ala3115=)
c.9342A= (p.Ala3114=)
c.9264A= (p.Ala3088=)
c.9249A= (p.Ala3083=)
c.2463A= (p.Ala821=)
c.2442A= (p.Ala814=)
n.2523-797T=
n.9340A=
5g.90716606A>CCA445413650ADGRV1c.9324A>C (p.Ala3108=)
c.265+40397A>C (n.265+40397A>C)
n.4783A>C
c.3131A>C
n.2468A>C
c.4053A>C
c.2021A>C
n.9337A>C
c.9321A>C (p.Ala3107=)
c.9243A>C (p.Ala3081=)
c.6627A>C (p.Ala2209=)
n.272-797T>G
c.9345A>C (p.Ala3115=)
c.9342A>C (p.Ala3114=)
c.9264A>C (p.Ala3088=)
c.9249A>C (p.Ala3083=)
c.2463A>C (p.Ala821=)
c.2442A>C (p.Ala814=)
n.2523-797T>G
n.9340A>C
ClinVar dbSNP gnomAD v4
5g.90716606A>GCA445413651ADGRV1c.9324A>G (p.Ala3108=)
c.265+40397A>G (n.265+40397A>G)
n.4783A>G
c.3131A>G
n.2468A>G
c.4053A>G
c.2021A>G
n.9337A>G
c.9321A>G (p.Ala3107=)
c.9243A>G (p.Ala3081=)
c.6627A>G (p.Ala2209=)
n.272-797T>C
c.9345A>G (p.Ala3115=)
c.9342A>G (p.Ala3114=)
c.9264A>G (p.Ala3088=)
c.9249A>G (p.Ala3083=)
c.2463A>G (p.Ala821=)
c.2442A>G (p.Ala814=)
n.2523-797T>C
n.9340A>G
gnomAD v4
5g.90716606A>TCA445413653ADGRV1c.9324A>T (p.Ala3108=)
c.265+40397A>T (n.265+40397A>T)
n.4783A>T
c.3131A>T
n.2468A>T
c.4053A>T
c.2021A>T
n.9337A>T
c.9321A>T (p.Ala3107=)
c.9243A>T (p.Ala3081=)
c.6627A>T (p.Ala2209=)
n.272-797T>A
c.9345A>T (p.Ala3115=)
c.9342A>T (p.Ala3114=)
c.9264A>T (p.Ala3088=)
c.9249A>T (p.Ala3083=)
c.2463A>T (p.Ala821=)
c.2442A>T (p.Ala814=)
n.2523-797T>A
n.9340A>T
5g.90716607C>ACA360397398ADGRV1c.9325C>A (p.Gln3109Lys)
c.265+40398C>A (n.265+40398C>A)
n.4784C>A
c.3132C>A
n.2469C>A
c.4054C>A
c.2022C>A
n.9338C>A
c.9322C>A (p.Gln3108Lys)
c.9244C>A (p.Gln3082Lys)
c.6628C>A (p.Gln2210Lys)
n.272-798G>T
c.9346C>A (p.Gln3116Lys)
c.9343C>A (p.Gln3115Lys)
c.9265C>A (p.Gln3089Lys)
c.9250C>A (p.Gln3084Lys)
c.2464C>A (p.Gln822Lys)
c.2443C>A (p.Gln815Lys)
n.2523-798G>T
n.9341C>A
5g.90716607C>GCA360397400ADGRV1c.9325C>G (p.Gln3109Glu)
c.265+40398C>G (n.265+40398C>G)
n.4784C>G
c.3132C>G
n.2469C>G
c.4054C>G
c.2022C>G
n.9338C>G
c.9322C>G (p.Gln3108Glu)
c.9244C>G (p.Gln3082Glu)
c.6628C>G (p.Gln2210Glu)
n.272-798G>C
c.9346C>G (p.Gln3116Glu)
c.9343C>G (p.Gln3115Glu)
c.9265C>G (p.Gln3089Glu)
c.9250C>G (p.Gln3084Glu)
c.2464C>G (p.Gln822Glu)
c.2443C>G (p.Gln815Glu)
n.2523-798G>C
n.9341C>G
gnomAD v4
5g.90716607C>TCA360397396ADGRV1c.9325C>T (p.Gln3109Ter)
c.265+40398C>T (n.265+40398C>T)
n.4784C>T
c.3132C>T
n.2469C>T
c.4054C>T
c.2022C>T
n.9338C>T
c.9322C>T (p.Gln3108Ter)
c.9244C>T (p.Gln3082Ter)
c.6628C>T (p.Gln2210Ter)
n.272-798G>A
c.9346C>T (p.Gln3116Ter)
c.9343C>T (p.Gln3115Ter)
c.9265C>T (p.Gln3089Ter)
c.9250C>T (p.Gln3084Ter)
c.2464C>T (p.Gln822Ter)
c.2443C>T (p.Gln815Ter)
n.2523-798G>A
n.9341C>T
ClinVar dbSNP
5g.90716608A>CCA360397401ADGRV1c.9326A>C (p.Gln3109Pro)
c.265+40399A>C (n.265+40399A>C)
n.4785A>C
c.3133A>C
n.2470A>C
c.4055A>C
c.2023A>C
n.9339A>C
c.9323A>C (p.Gln3108Pro)
c.9245A>C (p.Gln3082Pro)
c.6629A>C (p.Gln2210Pro)
n.272-799T>G
c.9347A>C (p.Gln3116Pro)
c.9344A>C (p.Gln3115Pro)
c.9266A>C (p.Gln3089Pro)
c.9251A>C (p.Gln3084Pro)
c.2465A>C (p.Gln822Pro)
c.2444A>C (p.Gln815Pro)
n.2523-799T>G
n.9342A>C
5g.90716608A>GCA360397402ADGRV1c.9326A>G (p.Gln3109Arg)
c.265+40399A>G (n.265+40399A>G)
n.4785A>G
c.3133A>G
n.2470A>G
c.4055A>G
c.2023A>G
n.9339A>G
c.9323A>G (p.Gln3108Arg)
c.9245A>G (p.Gln3082Arg)
c.6629A>G (p.Gln2210Arg)
n.272-799T>C
c.9347A>G (p.Gln3116Arg)
c.9344A>G (p.Gln3115Arg)
c.9266A>G (p.Gln3089Arg)
c.9251A>G (p.Gln3084Arg)
c.2465A>G (p.Gln822Arg)
c.2444A>G (p.Gln815Arg)
n.2523-799T>C
n.9342A>G
5g.90716608A>TCA360397404ADGRV1c.9326A>T (p.Gln3109Leu)
c.265+40399A>T (n.265+40399A>T)
n.4785A>T
c.3133A>T
n.2470A>T
c.4055A>T
c.2023A>T
n.9339A>T
c.9323A>T (p.Gln3108Leu)
c.9245A>T (p.Gln3082Leu)
c.6629A>T (p.Gln2210Leu)
n.272-799T>A
c.9347A>T (p.Gln3116Leu)
c.9344A>T (p.Gln3115Leu)
c.9266A>T (p.Gln3089Leu)
c.9251A>T (p.Gln3084Leu)
c.2465A>T (p.Gln822Leu)
c.2444A>T (p.Gln815Leu)
n.2523-799T>A
n.9342A>T
5g.90716609A>CCA360397406ADGRV1c.9327A>C (p.Gln3109His)
c.265+40400A>C (n.265+40400A>C)
n.4786A>C
c.3134A>C
n.2471A>C
c.4056A>C
c.2024A>C
n.9340A>C
c.9324A>C (p.Gln3108His)
c.9246A>C (p.Gln3082His)
c.6630A>C (p.Gln2210His)
n.272-800T>G
c.9348A>C (p.Gln3116His)
c.9345A>C (p.Gln3115His)
c.9267A>C (p.Gln3089His)
c.9252A>C (p.Gln3084His)
c.2466A>C (p.Gln822His)
c.2445A>C (p.Gln815His)
n.2523-800T>G
n.9343A>C
5g.90716609A>GCA445413663ADGRV1c.9327A>G (p.Gln3109=)
c.265+40400A>G (n.265+40400A>G)
n.4786A>G
c.3134A>G
n.2471A>G
c.4056A>G
c.2024A>G
n.9340A>G
c.9324A>G (p.Gln3108=)
c.9246A>G (p.Gln3082=)
c.6630A>G (p.Gln2210=)
n.272-800T>C
c.9348A>G (p.Gln3116=)
c.9345A>G (p.Gln3115=)
c.9267A>G (p.Gln3089=)
c.9252A>G (p.Gln3084=)
c.2466A>G (p.Gln822=)
c.2445A>G (p.Gln815=)
n.2523-800T>C
n.9343A>G
gnomAD v4
5g.90716609A>TCA360397408ADGRV1c.9327A>T (p.Gln3109His)
c.265+40400A>T (n.265+40400A>T)
n.4786A>T
c.3134A>T
n.2471A>T
c.4056A>T
c.2024A>T
n.9340A>T
c.9324A>T (p.Gln3108His)
c.9246A>T (p.Gln3082His)
c.6630A>T (p.Gln2210His)
n.272-800T>A
c.9348A>T (p.Gln3116His)
c.9345A>T (p.Gln3115His)
c.9267A>T (p.Gln3089His)
c.9252A>T (p.Gln3084His)
c.2466A>T (p.Gln822His)
c.2445A>T (p.Gln815His)
n.2523-800T>A
n.9343A>T
5g.90716610G>ACA360397409ADGRV1c.9328G>A (p.Gly3110Arg)
c.265+40401G>A (n.265+40401G>A)
n.4787G>A
c.3135G>A
n.2472G>A
c.4057G>A
c.2025G>A
n.9341G>A
c.9325G>A (p.Gly3109Arg)
c.9247G>A (p.Gly3083Arg)
c.6631G>A (p.Gly2211Arg)
n.272-801C>T
c.9349G>A (p.Gly3117Arg)
c.9346G>A (p.Gly3116Arg)
c.9268G>A (p.Gly3090Arg)
c.9253G>A (p.Gly3085Arg)
c.2467G>A (p.Gly823Arg)
c.2446G>A (p.Gly816Arg)
n.2523-801C>T
n.9344G>A
dbSNP
5g.90716610G>CCA360397410ADGRV1c.9328G>C (p.Gly3110Arg)
c.265+40401G>C (n.265+40401G>C)
n.4787G>C
c.3135G>C
n.2472G>C
c.4057G>C
c.2025G>C
n.9341G>C
c.9325G>C (p.Gly3109Arg)
c.9247G>C (p.Gly3083Arg)
c.6631G>C (p.Gly2211Arg)
n.272-801C>G
c.9349G>C (p.Gly3117Arg)
c.9346G>C (p.Gly3116Arg)
c.9268G>C (p.Gly3090Arg)
c.9253G>C (p.Gly3085Arg)
c.2467G>C (p.Gly823Arg)
c.2446G>C (p.Gly816Arg)
n.2523-801C>G
n.9344G>C
5g.90716610G=CA1562870609ADGRV1c.9328G= (p.Gly3110=)
c.265+40401G= (n.265+40401G=)
n.4787G=
c.3135G=
n.2472G=
c.4057G=
c.2025G=
n.9341G=
c.9325G= (p.Gly3109=)
c.9247G= (p.Gly3083=)
c.6631G= (p.Gly2211=)
n.272-801C=
c.9349G= (p.Gly3117=)
c.9346G= (p.Gly3116=)
c.9268G= (p.Gly3090=)
c.9253G= (p.Gly3085=)
c.2467G= (p.Gly823=)
c.2446G= (p.Gly816=)
n.2523-801C=
n.9344G=
5g.90716610G>TCA360397411ADGRV1c.9328G>T (p.Gly3110Ter)
c.265+40401G>T (n.265+40401G>T)
n.4787G>T
c.3135G>T
n.2472G>T
c.4057G>T
c.2025G>T
n.9341G>T
c.9325G>T (p.Gly3109Ter)
c.9247G>T (p.Gly3083Ter)
c.6631G>T (p.Gly2211Ter)
n.272-801C>A
c.9349G>T (p.Gly3117Ter)
c.9346G>T (p.Gly3116Ter)
c.9268G>T (p.Gly3090Ter)
c.9253G>T (p.Gly3085Ter)
c.2467G>T (p.Gly823Ter)
c.2446G>T (p.Gly816Ter)
n.2523-801C>A
n.9344G>T
5g.90716611G>ACA10606765ADGRV1c.9329G>A (p.Gly3110Glu)
c.265+40402G>A (n.265+40402G>A)
n.4788G>A
c.3136G>A
n.2473G>A
c.4058G>A
c.2026G>A
n.9342G>A
c.9326G>A (p.Gly3109Glu)
c.9248G>A (p.Gly3083Glu)
c.6632G>A (p.Gly2211Glu)
n.272-802C>T
c.9350G>A (p.Gly3117Glu)
c.9347G>A (p.Gly3116Glu)
c.9269G>A (p.Gly3090Glu)
c.9254G>A (p.Gly3085Glu)
c.2468G>A (p.Gly823Glu)
c.2447G>A (p.Gly816Glu)
n.2523-802C>T
n.9345G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90716611G>CCA360397413ADGRV1c.9329G>C (p.Gly3110Ala)
c.265+40402G>C (n.265+40402G>C)
n.4788G>C
c.3136G>C
n.2473G>C
c.4058G>C
c.2026G>C
n.9342G>C
c.9326G>C (p.Gly3109Ala)
c.9248G>C (p.Gly3083Ala)
c.6632G>C (p.Gly2211Ala)
n.272-802C>G
c.9350G>C (p.Gly3117Ala)
c.9347G>C (p.Gly3116Ala)
c.9269G>C (p.Gly3090Ala)
c.9254G>C (p.Gly3085Ala)
c.2468G>C (p.Gly823Ala)
c.2447G>C (p.Gly816Ala)
n.2523-802C>G
n.9345G>C
gnomAD v4
5g.90716611G=CA1562870610ADGRV1c.9329G= (p.Gly3110=)
c.265+40402G= (n.265+40402G=)
n.4788G=
c.3136G=
n.2473G=
c.4058G=
c.2026G=
n.9342G=
c.9326G= (p.Gly3109=)
c.9248G= (p.Gly3083=)
c.6632G= (p.Gly2211=)
n.272-802C=
c.9350G= (p.Gly3117=)
c.9347G= (p.Gly3116=)
c.9269G= (p.Gly3090=)
c.9254G= (p.Gly3085=)
c.2468G= (p.Gly823=)
c.2447G= (p.Gly816=)
n.2523-802C=
n.9345G=
5g.90716611G>TCA360397414ADGRV1c.9329G>T (p.Gly3110Val)
c.265+40402G>T (n.265+40402G>T)
n.4788G>T
c.3136G>T
n.2473G>T
c.4058G>T
c.2026G>T
n.9342G>T
c.9326G>T (p.Gly3109Val)
c.9248G>T (p.Gly3083Val)
c.6632G>T (p.Gly2211Val)
n.272-802C>A
c.9350G>T (p.Gly3117Val)
c.9347G>T (p.Gly3116Val)
c.9269G>T (p.Gly3090Val)
c.9254G>T (p.Gly3085Val)
c.2468G>T (p.Gly823Val)
c.2447G>T (p.Gly816Val)
n.2523-802C>A
n.9345G>T
5g.90716612A>CCA445413670ADGRV1c.9330A>C (p.Gly3110=)
c.265+40403A>C (n.265+40403A>C)
n.4789A>C
c.3137A>C
n.2474A>C
c.4059A>C
c.2027A>C
n.9343A>C
c.9327A>C (p.Gly3109=)
c.9249A>C (p.Gly3083=)
c.6633A>C (p.Gly2211=)
n.272-803T>G
c.9351A>C (p.Gly3117=)
c.9348A>C (p.Gly3116=)
c.9270A>C (p.Gly3090=)
c.9255A>C (p.Gly3085=)
c.2469A>C (p.Gly823=)
c.2448A>C (p.Gly816=)
n.2523-803T>G
n.9346A>C
5g.90716612A>GCA445413673ADGRV1c.9330A>G (p.Gly3110=)
c.265+40403A>G (n.265+40403A>G)
n.4789A>G
c.3137A>G
n.2474A>G
c.4059A>G
c.2027A>G
n.9343A>G
c.9327A>G (p.Gly3109=)
c.9249A>G (p.Gly3083=)
c.6633A>G (p.Gly2211=)
n.272-803T>C
c.9351A>G (p.Gly3117=)
c.9348A>G (p.Gly3116=)
c.9270A>G (p.Gly3090=)
c.9255A>G (p.Gly3085=)
c.2469A>G (p.Gly823=)
c.2448A>G (p.Gly816=)
n.2523-803T>C
n.9346A>G
ClinVar dbSNP
5g.90716612A>TCA445413675ADGRV1c.9330A>T (p.Gly3110=)
c.265+40403A>T (n.265+40403A>T)
n.4789A>T
c.3137A>T
n.2474A>T
c.4059A>T
c.2027A>T
n.9343A>T
c.9327A>T (p.Gly3109=)
c.9249A>T (p.Gly3083=)
c.6633A>T (p.Gly2211=)
n.272-803T>A
c.9351A>T (p.Gly3117=)
c.9348A>T (p.Gly3116=)
c.9270A>T (p.Gly3090=)
c.9255A>T (p.Gly3085=)
c.2469A>T (p.Gly823=)
c.2448A>T (p.Gly816=)
n.2523-803T>A
n.9346A>T
5g.90716613T>ACA360397416ADGRV1c.9331T>A (p.Leu3111Met)
c.265+40404T>A (n.265+40404T>A)
n.4790T>A
c.3138T>A
n.2475T>A
c.4060T>A
c.2028T>A
n.9344T>A
c.9328T>A (p.Leu3110Met)
c.9250T>A (p.Leu3084Met)
c.6634T>A (p.Leu2212Met)
n.272-804A>T
c.9352T>A (p.Leu3118Met)
c.9349T>A (p.Leu3117Met)
c.9271T>A (p.Leu3091Met)
c.9256T>A (p.Leu3086Met)
c.2470T>A (p.Leu824Met)
c.2449T>A (p.Leu817Met)
n.2523-804A>T
n.9347T>A
5g.90716613T>CCA445413678ADGRV1c.9331T>C (p.Leu3111=)
c.265+40404T>C (n.265+40404T>C)
n.4790T>C
c.3138T>C
n.2475T>C
c.4060T>C
c.2028T>C
n.9344T>C
c.9328T>C (p.Leu3110=)
c.9250T>C (p.Leu3084=)
c.6634T>C (p.Leu2212=)
n.272-804A>G
c.9352T>C (p.Leu3118=)
c.9349T>C (p.Leu3117=)
c.9271T>C (p.Leu3091=)
c.9256T>C (p.Leu3086=)
c.2470T>C (p.Leu824=)
c.2449T>C (p.Leu817=)
n.2523-804A>G
n.9347T>C
5g.90716613T>GCA360397417ADGRV1c.9331T>G (p.Leu3111Val)
c.265+40404T>G (n.265+40404T>G)
n.4790T>G
c.3138T>G
n.2475T>G
c.4060T>G
c.2028T>G
n.9344T>G
c.9328T>G (p.Leu3110Val)
c.9250T>G (p.Leu3084Val)
c.6634T>G (p.Leu2212Val)
n.272-804A>C
c.9352T>G (p.Leu3118Val)
c.9349T>G (p.Leu3117Val)
c.9271T>G (p.Leu3091Val)
c.9256T>G (p.Leu3086Val)
c.2470T>G (p.Leu824Val)
c.2449T>G (p.Leu817Val)
n.2523-804A>C
n.9347T>G
5g.90716614T>ACA360397422ADGRV1c.9332T>A (p.Leu3111Ter)
c.265+40405T>A (n.265+40405T>A)
n.4791T>A
c.3139T>A
n.2476T>A
c.4061T>A
c.2029T>A
n.9345T>A
c.9329T>A (p.Leu3110Ter)
c.9251T>A (p.Leu3084Ter)
c.6635T>A (p.Leu2212Ter)
n.272-805A>T
c.9353T>A (p.Leu3118Ter)
c.9350T>A (p.Leu3117Ter)
c.9272T>A (p.Leu3091Ter)
c.9257T>A (p.Leu3086Ter)
c.2471T>A (p.Leu824Ter)
c.2450T>A (p.Leu817Ter)
n.2523-805A>T
n.9348T>A
5g.90716614T>CCA360397421ADGRV1c.9332T>C (p.Leu3111Ser)
c.265+40405T>C (n.265+40405T>C)
n.4791T>C
c.3139T>C
n.2476T>C
c.4061T>C
c.2029T>C
n.9345T>C
c.9329T>C (p.Leu3110Ser)
c.9251T>C (p.Leu3084Ser)
c.6635T>C (p.Leu2212Ser)
n.272-805A>G
c.9353T>C (p.Leu3118Ser)
c.9350T>C (p.Leu3117Ser)
c.9272T>C (p.Leu3091Ser)
c.9257T>C (p.Leu3086Ser)
c.2471T>C (p.Leu824Ser)
c.2450T>C (p.Leu817Ser)
n.2523-805A>G
n.9348T>C
dbSNP
5g.90716614T>GCA360397420ADGRV1c.9332T>G (p.Leu3111Trp)
c.265+40405T>G (n.265+40405T>G)
n.4791T>G
c.3139T>G
n.2476T>G
c.4061T>G
c.2029T>G
n.9345T>G
c.9329T>G (p.Leu3110Trp)
c.9251T>G (p.Leu3084Trp)
c.6635T>G (p.Leu2212Trp)
n.272-805A>C
c.9353T>G (p.Leu3118Trp)
c.9350T>G (p.Leu3117Trp)
c.9272T>G (p.Leu3091Trp)
c.9257T>G (p.Leu3086Trp)
c.2471T>G (p.Leu824Trp)
c.2450T>G (p.Leu817Trp)
n.2523-805A>C
n.9348T>G
5g.90716614T=CA1562870611ADGRV1c.9332T= (p.Leu3111=)
c.265+40405T= (n.265+40405T=)
n.4791T=
c.3139T=
n.2476T=
c.4061T=
c.2029T=
n.9345T=
c.9329T= (p.Leu3110=)
c.9251T= (p.Leu3084=)
c.6635T= (p.Leu2212=)
n.272-805A=
c.9353T= (p.Leu3118=)
c.9350T= (p.Leu3117=)
c.9272T= (p.Leu3091=)
c.9257T= (p.Leu3086=)
c.2471T= (p.Leu824=)
c.2450T= (p.Leu817=)
n.2523-805A=
n.9348T=
5g.90716615G>ACA445413687ADGRV1c.9333G>A (p.Leu3111=)
c.265+40406G>A (n.265+40406G>A)
n.4792G>A
c.3140G>A
n.2477G>A
c.4062G>A
c.2030G>A
n.9346G>A
c.9330G>A (p.Leu3110=)
c.9252G>A (p.Leu3084=)
c.6636G>A (p.Leu2212=)
n.272-806C>T
c.9354G>A (p.Leu3118=)
c.9351G>A (p.Leu3117=)
c.9273G>A (p.Leu3091=)
c.9258G>A (p.Leu3086=)
c.2472G>A (p.Leu824=)
c.2451G>A (p.Leu817=)
n.2523-806C>T
n.9349G>A
gnomAD v4
5g.90716615G>CCA3340482ADGRV1c.9333G>C (p.Leu3111Phe)
c.265+40406G>C (n.265+40406G>C)
n.4792G>C
c.3140G>C
n.2477G>C
c.4062G>C
c.2030G>C
n.9346G>C
c.9330G>C (p.Leu3110Phe)
c.9252G>C (p.Leu3084Phe)
c.6636G>C (p.Leu2212Phe)
n.272-806C>G
c.9354G>C (p.Leu3118Phe)
c.9351G>C (p.Leu3117Phe)
c.9273G>C (p.Leu3091Phe)
c.9258G>C (p.Leu3086Phe)
c.2472G>C (p.Leu824Phe)
c.2451G>C (p.Leu817Phe)
n.2523-806C>G
n.9349G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90716615G=CA1562870612ADGRV1c.9333G= (p.Leu3111=)
c.265+40406G= (n.265+40406G=)
n.4792G=
c.3140G=
n.2477G=
c.4062G=
c.2030G=
n.9346G=
c.9330G= (p.Leu3110=)
c.9252G= (p.Leu3084=)
c.6636G= (p.Leu2212=)
n.272-806C=
c.9354G= (p.Leu3118=)
c.9351G= (p.Leu3117=)
c.9273G= (p.Leu3091=)
c.9258G= (p.Leu3086=)
c.2472G= (p.Leu824=)
c.2451G= (p.Leu817=)
n.2523-806C=
n.9349G=
5g.90716615G>TCA360397424ADGRV1c.9333G>T (p.Leu3111Phe)
c.265+40406G>T (n.265+40406G>T)
n.4792G>T
c.3140G>T
n.2477G>T
c.4062G>T
c.2030G>T
n.9346G>T
c.9330G>T (p.Leu3110Phe)
c.9252G>T (p.Leu3084Phe)
c.6636G>T (p.Leu2212Phe)
n.272-806C>A
c.9354G>T (p.Leu3118Phe)
c.9351G>T (p.Leu3117Phe)
c.9273G>T (p.Leu3091Phe)
c.9258G>T (p.Leu3086Phe)
c.2472G>T (p.Leu824Phe)
c.2451G>T (p.Leu817Phe)
n.2523-806C>A
n.9349G>T
5g.90716616T>ACA360397426ADGRV1c.9334T>A (p.Phe3112Ile)
c.265+40407T>A (n.265+40407T>A)
n.4793T>A
c.3141T>A
n.2478T>A
c.4063T>A
c.2031T>A
n.9347T>A
c.9331T>A (p.Phe3111Ile)
c.9253T>A (p.Phe3085Ile)
c.6637T>A (p.Phe2213Ile)
n.272-807A>T
c.9355T>A (p.Phe3119Ile)
c.9352T>A (p.Phe3118Ile)
c.9274T>A (p.Phe3092Ile)
c.9259T>A (p.Phe3087Ile)
c.2473T>A (p.Phe825Ile)
c.2452T>A (p.Phe818Ile)
n.2523-807A>T
n.9350T>A
5g.90716616T>CCA360397428ADGRV1c.9334T>C (p.Phe3112Leu)
c.265+40407T>C (n.265+40407T>C)
n.4793T>C
c.3141T>C
n.2478T>C
c.4063T>C
c.2031T>C
n.9347T>C
c.9331T>C (p.Phe3111Leu)
c.9253T>C (p.Phe3085Leu)
c.6637T>C (p.Phe2213Leu)
n.272-807A>G
c.9355T>C (p.Phe3119Leu)
c.9352T>C (p.Phe3118Leu)
c.9274T>C (p.Phe3092Leu)
c.9259T>C (p.Phe3087Leu)
c.2473T>C (p.Phe825Leu)
c.2452T>C (p.Phe818Leu)
n.2523-807A>G
n.9350T>C
gnomAD v4
5g.90716616T>GCA360397430ADGRV1c.9334T>G (p.Phe3112Val)
c.265+40407T>G (n.265+40407T>G)
n.4793T>G
c.3141T>G
n.2478T>G
c.4063T>G
c.2031T>G
n.9347T>G
c.9331T>G (p.Phe3111Val)
c.9253T>G (p.Phe3085Val)
c.6637T>G (p.Phe2213Val)
n.272-807A>C
c.9355T>G (p.Phe3119Val)
c.9352T>G (p.Phe3118Val)
c.9274T>G (p.Phe3092Val)
c.9259T>G (p.Phe3087Val)
c.2473T>G (p.Phe825Val)
c.2452T>G (p.Phe818Val)
n.2523-807A>C
n.9350T>G
5g.90716617T>ACA360397431ADGRV1c.9335T>A (p.Phe3112Tyr)
c.265+40408T>A (n.265+40408T>A)
n.4794T>A
c.3142T>A
n.2479T>A
c.4064T>A
c.2032T>A
n.9348T>A
c.9332T>A (p.Phe3111Tyr)
c.9254T>A (p.Phe3085Tyr)
c.6638T>A (p.Phe2213Tyr)
n.272-808A>T
c.9356T>A (p.Phe3119Tyr)
c.9353T>A (p.Phe3118Tyr)
c.9275T>A (p.Phe3092Tyr)
c.9260T>A (p.Phe3087Tyr)
c.2474T>A (p.Phe825Tyr)
c.2453T>A (p.Phe818Tyr)
n.2523-808A>T
n.9351T>A
5g.90716617T>CCA360397433ADGRV1c.9335T>C (p.Phe3112Ser)
c.265+40408T>C (n.265+40408T>C)
n.4794T>C
c.3142T>C
n.2479T>C
c.4064T>C
c.2032T>C
n.9348T>C
c.9332T>C (p.Phe3111Ser)
c.9254T>C (p.Phe3085Ser)
c.6638T>C (p.Phe2213Ser)
n.272-808A>G
c.9356T>C (p.Phe3119Ser)
c.9353T>C (p.Phe3118Ser)
c.9275T>C (p.Phe3092Ser)
c.9260T>C (p.Phe3087Ser)
c.2474T>C (p.Phe825Ser)
c.2453T>C (p.Phe818Ser)
n.2523-808A>G
n.9351T>C
ClinVar
5g.90716617T>GCA360397434ADGRV1c.9335T>G (p.Phe3112Cys)
c.265+40408T>G (n.265+40408T>G)
n.4794T>G
c.3142T>G
n.2479T>G
c.4064T>G
c.2032T>G
n.9348T>G
c.9332T>G (p.Phe3111Cys)
c.9254T>G (p.Phe3085Cys)
c.6638T>G (p.Phe2213Cys)
n.272-808A>C
c.9356T>G (p.Phe3119Cys)
c.9353T>G (p.Phe3118Cys)
c.9275T>G (p.Phe3092Cys)
c.9260T>G (p.Phe3087Cys)
c.2474T>G (p.Phe825Cys)
c.2453T>G (p.Phe818Cys)
n.2523-808A>C
n.9351T>G
5g.90716618T>ACA360397436ADGRV1c.9336T>A (p.Phe3112Leu)
c.265+40409T>A (n.265+40409T>A)
n.4795T>A
c.3143T>A
n.2480T>A
c.4065T>A
c.2033T>A
n.9349T>A
c.9333T>A (p.Phe3111Leu)
c.9255T>A (p.Phe3085Leu)
c.6639T>A (p.Phe2213Leu)
n.272-809A>T
c.9357T>A (p.Phe3119Leu)
c.9354T>A (p.Phe3118Leu)
c.9276T>A (p.Phe3092Leu)
c.9261T>A (p.Phe3087Leu)
c.2475T>A (p.Phe825Leu)
c.2454T>A (p.Phe818Leu)
n.2523-809A>T
n.9352T>A
5g.90716618T>CCA445413696ADGRV1c.9336T>C (p.Phe3112=)
c.265+40409T>C (n.265+40409T>C)
n.4795T>C
c.3143T>C
n.2480T>C
c.4065T>C
c.2033T>C
n.9349T>C
c.9333T>C (p.Phe3111=)
c.9255T>C (p.Phe3085=)
c.6639T>C (p.Phe2213=)
n.272-809A>G
c.9357T>C (p.Phe3119=)
c.9354T>C (p.Phe3118=)
c.9276T>C (p.Phe3092=)
c.9261T>C (p.Phe3087=)
c.2475T>C (p.Phe825=)
c.2454T>C (p.Phe818=)
n.2523-809A>G
n.9352T>C
5g.90716618T>GCA360397438ADGRV1c.9336T>G (p.Phe3112Leu)
c.265+40409T>G (n.265+40409T>G)
n.4795T>G
c.3143T>G
n.2480T>G
c.4065T>G
c.2033T>G
n.9349T>G
c.9333T>G (p.Phe3111Leu)
c.9255T>G (p.Phe3085Leu)
c.6639T>G (p.Phe2213Leu)
n.272-809A>C
c.9357T>G (p.Phe3119Leu)
c.9354T>G (p.Phe3118Leu)
c.9276T>G (p.Phe3092Leu)
c.9261T>G (p.Phe3087Leu)
c.2475T>G (p.Phe825Leu)
c.2454T>G (p.Phe818Leu)
n.2523-809A>C
n.9352T>G
5g.90716619G>ACA360397439ADGRV1c.9337G>A (p.Gly3113Arg)
c.265+40410G>A (n.265+40410G>A)
n.4796G>A
c.3144G>A
n.2481G>A
c.4066G>A
c.2034G>A
n.9350G>A
c.9334G>A (p.Gly3112Arg)
c.9256G>A (p.Gly3086Arg)
c.6640G>A (p.Gly2214Arg)
n.272-810C>T
c.9358G>A (p.Gly3120Arg)
c.9355G>A (p.Gly3119Arg)
c.9277G>A (p.Gly3093Arg)
c.9262G>A (p.Gly3088Arg)
c.2476G>A (p.Gly826Arg)
c.2455G>A (p.Gly819Arg)
n.2523-810C>T
n.9353G>A
5g.90716619G>CCA360397440ADGRV1c.9337G>C (p.Gly3113Arg)
c.265+40410G>C (n.265+40410G>C)
n.4796G>C
c.3144G>C
n.2481G>C
c.4066G>C
c.2034G>C
n.9350G>C
c.9334G>C (p.Gly3112Arg)
c.9256G>C (p.Gly3086Arg)
c.6640G>C (p.Gly2214Arg)
n.272-810C>G
c.9358G>C (p.Gly3120Arg)
c.9355G>C (p.Gly3119Arg)
c.9277G>C (p.Gly3093Arg)
c.9262G>C (p.Gly3088Arg)
c.2476G>C (p.Gly826Arg)
c.2455G>C (p.Gly819Arg)
n.2523-810C>G
n.9353G>C
5g.90716619G>TCA360397442ADGRV1c.9337G>T (p.Gly3113Ter)
c.265+40410G>T (n.265+40410G>T)
n.4796G>T
c.3144G>T
n.2481G>T
c.4066G>T
c.2034G>T
n.9350G>T
c.9334G>T (p.Gly3112Ter)
c.9256G>T (p.Gly3086Ter)
c.6640G>T (p.Gly2214Ter)
n.272-810C>A
c.9358G>T (p.Gly3120Ter)
c.9355G>T (p.Gly3119Ter)
c.9277G>T (p.Gly3093Ter)
c.9262G>T (p.Gly3088Ter)
c.2476G>T (p.Gly826Ter)
c.2455G>T (p.Gly819Ter)
n.2523-810C>A
n.9353G>T
5g.90716620G>ACA360397446ADGRV1c.9338G>A (p.Gly3113Glu)
c.265+40411G>A (n.265+40411G>A)
n.4797G>A
c.3145G>A
n.2482G>A
c.4067G>A
c.2035G>A
n.9351G>A
c.9335G>A (p.Gly3112Glu)
c.9257G>A (p.Gly3086Glu)
c.6641G>A (p.Gly2214Glu)
n.272-811C>T
c.9359G>A (p.Gly3120Glu)
c.9356G>A (p.Gly3119Glu)
c.9278G>A (p.Gly3093Glu)
c.9263G>A (p.Gly3088Glu)
c.2477G>A (p.Gly826Glu)
c.2456G>A (p.Gly819Glu)
n.2523-811C>T
n.9354G>A
gnomAD v4
5g.90716620G>CCA360397447ADGRV1c.9338G>C (p.Gly3113Ala)
c.265+40411G>C (n.265+40411G>C)
n.4797G>C
c.3145G>C
n.2482G>C
c.4067G>C
c.2035G>C
n.9351G>C
c.9335G>C (p.Gly3112Ala)
c.9257G>C (p.Gly3086Ala)
c.6641G>C (p.Gly2214Ala)
n.272-811C>G
c.9359G>C (p.Gly3120Ala)
c.9356G>C (p.Gly3119Ala)
c.9278G>C (p.Gly3093Ala)
c.9263G>C (p.Gly3088Ala)
c.2477G>C (p.Gly826Ala)
c.2456G>C (p.Gly819Ala)
n.2523-811C>G
n.9354G>C
5g.90716620G>TCA360397444ADGRV1c.9338G>T (p.Gly3113Val)
c.265+40411G>T (n.265+40411G>T)
n.4797G>T
c.3145G>T
n.2482G>T
c.4067G>T
c.2035G>T
n.9351G>T
c.9335G>T (p.Gly3112Val)
c.9257G>T (p.Gly3086Val)
c.6641G>T (p.Gly2214Val)
n.272-811C>A
c.9359G>T (p.Gly3120Val)
c.9356G>T (p.Gly3119Val)
c.9278G>T (p.Gly3093Val)
c.9263G>T (p.Gly3088Val)
c.2477G>T (p.Gly826Val)
c.2456G>T (p.Gly819Val)
n.2523-811C>A
n.9354G>T
gnomAD v4
5g.90716621A>CCA445413705ADGRV1c.9339A>C (p.Gly3113=)
c.265+40412A>C (n.265+40412A>C)
n.4798A>C
c.3146A>C
n.2483A>C
c.4068A>C
c.2036A>C
n.9352A>C
c.9336A>C (p.Gly3112=)
c.9258A>C (p.Gly3086=)
c.6642A>C (p.Gly2214=)
n.272-812T>G
c.9360A>C (p.Gly3120=)
c.9357A>C (p.Gly3119=)
c.9279A>C (p.Gly3093=)
c.9264A>C (p.Gly3088=)
c.2478A>C (p.Gly826=)
c.2457A>C (p.Gly819=)
n.2523-812T>G
n.9355A>C
5g.90716621A>GCA445413703ADGRV1c.9339A>G (p.Gly3113=)
c.265+40412A>G (n.265+40412A>G)
n.4798A>G
c.3146A>G
n.2483A>G
c.4068A>G
c.2036A>G
n.9352A>G
c.9336A>G (p.Gly3112=)
c.9258A>G (p.Gly3086=)
c.6642A>G (p.Gly2214=)
n.272-812T>C
c.9360A>G (p.Gly3120=)
c.9357A>G (p.Gly3119=)
c.9279A>G (p.Gly3093=)
c.9264A>G (p.Gly3088=)
c.2478A>G (p.Gly826=)
c.2457A>G (p.Gly819=)
n.2523-812T>C
n.9355A>G
5g.90716621A>TCA445413702ADGRV1c.9339A>T (p.Gly3113=)
c.265+40412A>T (n.265+40412A>T)
n.4798A>T
c.3146A>T
n.2483A>T
c.4068A>T
c.2036A>T
n.9352A>T
c.9336A>T (p.Gly3112=)
c.9258A>T (p.Gly3086=)
c.6642A>T (p.Gly2214=)
n.272-812T>A
c.9360A>T (p.Gly3120=)
c.9357A>T (p.Gly3119=)
c.9279A>T (p.Gly3093=)
c.9264A>T (p.Gly3088=)
c.2478A>T (p.Gly826=)
c.2457A>T (p.Gly819=)
n.2523-812T>A
n.9355A>T
5g.90716622A>CCA360397449ADGRV1c.9340A>C (p.Thr3114Pro)
c.265+40413A>C (n.265+40413A>C)
n.4799A>C
c.3147A>C
n.2484A>C
c.4069A>C
c.2037A>C
n.9353A>C
c.9337A>C (p.Thr3113Pro)
c.9259A>C (p.Thr3087Pro)
c.6643A>C (p.Thr2215Pro)
n.272-813T>G
c.9361A>C (p.Thr3121Pro)
c.9358A>C (p.Thr3120Pro)
c.9280A>C (p.Thr3094Pro)
c.9265A>C (p.Thr3089Pro)
c.2479A>C (p.Thr827Pro)
c.2458A>C (p.Thr820Pro)
n.2523-813T>G
n.9356A>C
gnomAD v4
5g.90716622A>GCA360397452ADGRV1c.9340A>G (p.Thr3114Ala)
c.265+40413A>G (n.265+40413A>G)
n.4799A>G
c.3147A>G
n.2484A>G
c.4069A>G
c.2037A>G
n.9353A>G
c.9337A>G (p.Thr3113Ala)
c.9259A>G (p.Thr3087Ala)
c.6643A>G (p.Thr2215Ala)
n.272-813T>C
c.9361A>G (p.Thr3121Ala)
c.9358A>G (p.Thr3120Ala)
c.9280A>G (p.Thr3094Ala)
c.9265A>G (p.Thr3089Ala)
c.2479A>G (p.Thr827Ala)
c.2458A>G (p.Thr820Ala)
n.2523-813T>C
n.9356A>G
gnomAD v4
5g.90716622A>TCA360397450ADGRV1c.9340A>T (p.Thr3114Ser)
c.265+40413A>T (n.265+40413A>T)
n.4799A>T
c.3147A>T
n.2484A>T
c.4069A>T
c.2037A>T
n.9353A>T
c.9337A>T (p.Thr3113Ser)
c.9259A>T (p.Thr3087Ser)
c.6643A>T (p.Thr2215Ser)
n.272-813T>A
c.9361A>T (p.Thr3121Ser)
c.9358A>T (p.Thr3120Ser)
c.9280A>T (p.Thr3094Ser)
c.9265A>T (p.Thr3089Ser)
c.2479A>T (p.Thr827Ser)
c.2458A>T (p.Thr820Ser)
n.2523-813T>A
n.9356A>T
5g.90716623C>ACA360397453ADGRV1c.9341C>A (p.Thr3114Lys)
c.265+40414C>A (n.265+40414C>A)
n.4800C>A
c.3148C>A
n.2485C>A
c.4070C>A
c.2038C>A
n.9354C>A
c.9338C>A (p.Thr3113Lys)
c.9260C>A (p.Thr3087Lys)
c.6644C>A (p.Thr2215Lys)
n.272-814G>T
c.9362C>A (p.Thr3121Lys)
c.9359C>A (p.Thr3120Lys)
c.9281C>A (p.Thr3094Lys)
c.9266C>A (p.Thr3089Lys)
c.2480C>A (p.Thr827Lys)
c.2459C>A (p.Thr820Lys)
n.2523-814G>T
n.9357C>A
5g.90716623C>GCA360397457ADGRV1c.9341C>G (p.Thr3114Arg)
c.265+40414C>G (n.265+40414C>G)
n.4800C>G
c.3148C>G
n.2485C>G
c.4070C>G
c.2038C>G
n.9354C>G
c.9338C>G (p.Thr3113Arg)
c.9260C>G (p.Thr3087Arg)
c.6644C>G (p.Thr2215Arg)
n.272-814G>C
c.9362C>G (p.Thr3121Arg)
c.9359C>G (p.Thr3120Arg)
c.9281C>G (p.Thr3094Arg)
c.9266C>G (p.Thr3089Arg)
c.2480C>G (p.Thr827Arg)
c.2459C>G (p.Thr820Arg)
n.2523-814G>C
n.9357C>G
5g.90716623C>TCA360397455ADGRV1c.9341C>T (p.Thr3114Ile)
c.265+40414C>T (n.265+40414C>T)
n.4800C>T
c.3148C>T
n.2485C>T
c.4070C>T
c.2038C>T
n.9354C>T
c.9338C>T (p.Thr3113Ile)
c.9260C>T (p.Thr3087Ile)
c.6644C>T (p.Thr2215Ile)
n.272-814G>A
c.9362C>T (p.Thr3121Ile)
c.9359C>T (p.Thr3120Ile)
c.9281C>T (p.Thr3094Ile)
c.9266C>T (p.Thr3089Ile)
c.2480C>T (p.Thr827Ile)
c.2459C>T (p.Thr820Ile)
n.2523-814G>A
n.9357C>T
5g.90716624A>CCA445413714ADGRV1c.9342A>C (p.Thr3114=)
c.265+40415A>C (n.265+40415A>C)
n.4801A>C
c.3149A>C
n.2486A>C
c.4071A>C
c.2039A>C
n.9355A>C
c.9339A>C (p.Thr3113=)
c.9261A>C (p.Thr3087=)
c.6645A>C (p.Thr2215=)
n.272-815T>G
c.9363A>C (p.Thr3121=)
c.9360A>C (p.Thr3120=)
c.9282A>C (p.Thr3094=)
c.9267A>C (p.Thr3089=)
c.2481A>C (p.Thr827=)
c.2460A>C (p.Thr820=)
n.2523-815T>G
n.9358A>C
5g.90716624A>GCA445413716ADGRV1c.9342A>G (p.Thr3114=)
c.265+40415A>G (n.265+40415A>G)
n.4801A>G
c.3149A>G
n.2486A>G
c.4071A>G
c.2039A>G
n.9355A>G
c.9339A>G (p.Thr3113=)
c.9261A>G (p.Thr3087=)
c.6645A>G (p.Thr2215=)
n.272-815T>C
c.9363A>G (p.Thr3121=)
c.9360A>G (p.Thr3120=)
c.9282A>G (p.Thr3094=)
c.9267A>G (p.Thr3089=)
c.2481A>G (p.Thr827=)
c.2460A>G (p.Thr820=)
n.2523-815T>C
n.9358A>G
5g.90716624A>TCA445413718ADGRV1c.9342A>T (p.Thr3114=)
c.265+40415A>T (n.265+40415A>T)
n.4801A>T
c.3149A>T
n.2486A>T
c.4071A>T
c.2039A>T
n.9355A>T
c.9339A>T (p.Thr3113=)
c.9261A>T (p.Thr3087=)
c.6645A>T (p.Thr2215=)
n.272-815T>A
c.9363A>T (p.Thr3121=)
c.9360A>T (p.Thr3120=)
c.9282A>T (p.Thr3094=)
c.9267A>T (p.Thr3089=)
c.2481A>T (p.Thr827=)
c.2460A>T (p.Thr820=)
n.2523-815T>A
n.9358A>T
5g.90716625G>ACA360397458ADGRV1c.9343G>A (p.Val3115Met)
c.265+40416G>A (n.265+40416G>A)
n.4802G>A
c.3150G>A
n.2487G>A
c.4072G>A
c.2040G>A
n.9356G>A
c.9340G>A (p.Val3114Met)
c.9262G>A (p.Val3088Met)
c.6646G>A (p.Val2216Met)
n.272-816C>T
c.9364G>A (p.Val3122Met)
c.9361G>A (p.Val3121Met)
c.9283G>A (p.Val3095Met)
c.9268G>A (p.Val3090Met)
c.2482G>A (p.Val828Met)
c.2461G>A (p.Val821Met)
n.2523-816C>T
n.9359G>A
gnomAD v4
5g.90716625G>CCA360397460ADGRV1c.9343G>C (p.Val3115Leu)
c.265+40416G>C (n.265+40416G>C)
n.4802G>C
c.3150G>C
n.2487G>C
c.4072G>C
c.2040G>C
n.9356G>C
c.9340G>C (p.Val3114Leu)
c.9262G>C (p.Val3088Leu)
c.6646G>C (p.Val2216Leu)
n.272-816C>G
c.9364G>C (p.Val3122Leu)
c.9361G>C (p.Val3121Leu)
c.9283G>C (p.Val3095Leu)
c.9268G>C (p.Val3090Leu)
c.2482G>C (p.Val828Leu)
c.2461G>C (p.Val821Leu)
n.2523-816C>G
n.9359G>C
5g.90716625G>TCA360397461ADGRV1c.9343G>T (p.Val3115Leu)
c.265+40416G>T (n.265+40416G>T)
n.4802G>T
c.3150G>T
n.2487G>T
c.4072G>T
c.2040G>T
n.9356G>T
c.9340G>T (p.Val3114Leu)
c.9262G>T (p.Val3088Leu)
c.6646G>T (p.Val2216Leu)
n.272-816C>A
c.9364G>T (p.Val3122Leu)
c.9361G>T (p.Val3121Leu)
c.9283G>T (p.Val3095Leu)
c.9268G>T (p.Val3090Leu)
c.2482G>T (p.Val828Leu)
c.2461G>T (p.Val821Leu)
n.2523-816C>A
n.9359G>T
5g.90716626T>ACA360397463ADGRV1c.9344T>A (p.Val3115Glu)
c.265+40417T>A (n.265+40417T>A)
n.4803T>A
c.3151T>A
n.2488T>A
c.4073T>A
c.2041T>A
n.9357T>A
c.9341T>A (p.Val3114Glu)
c.9263T>A (p.Val3088Glu)
c.6647T>A (p.Val2216Glu)
n.272-817A>T
c.9365T>A (p.Val3122Glu)
c.9362T>A (p.Val3121Glu)
c.9284T>A (p.Val3095Glu)
c.9269T>A (p.Val3090Glu)
c.2483T>A (p.Val828Glu)
c.2462T>A (p.Val821Glu)
n.2523-817A>T
n.9360T>A
5g.90716626T>CCA360397465ADGRV1c.9344T>C (p.Val3115Ala)
c.265+40417T>C (n.265+40417T>C)
n.4803T>C
c.3151T>C
n.2488T>C
c.4073T>C
c.2041T>C
n.9357T>C
c.9341T>C (p.Val3114Ala)
c.9263T>C (p.Val3088Ala)
c.6647T>C (p.Val2216Ala)
n.272-817A>G
c.9365T>C (p.Val3122Ala)
c.9362T>C (p.Val3121Ala)
c.9284T>C (p.Val3095Ala)
c.9269T>C (p.Val3090Ala)
c.2483T>C (p.Val828Ala)
c.2462T>C (p.Val821Ala)
n.2523-817A>G
n.9360T>C
5g.90716626T>GCA360397466ADGRV1c.9344T>G (p.Val3115Gly)
c.265+40417T>G (n.265+40417T>G)
n.4803T>G
c.3151T>G
n.2488T>G
c.4073T>G
c.2041T>G
n.9357T>G
c.9341T>G (p.Val3114Gly)
c.9263T>G (p.Val3088Gly)
c.6647T>G (p.Val2216Gly)
n.272-817A>C
c.9365T>G (p.Val3122Gly)
c.9362T>G (p.Val3121Gly)
c.9284T>G (p.Val3095Gly)
c.9269T>G (p.Val3090Gly)
c.2483T>G (p.Val828Gly)
c.2462T>G (p.Val821Gly)
n.2523-817A>C
n.9360T>G
5g.90716627G>ACA445413727ADGRV1c.9345G>A (p.Val3115=)
c.265+40418G>A (n.265+40418G>A)
n.4804G>A
c.3152G>A
n.2489G>A
c.4074G>A
c.2042G>A
n.9358G>A
c.9342G>A (p.Val3114=)
c.9264G>A (p.Val3088=)
c.6648G>A (p.Val2216=)
n.272-818C>T
c.9366G>A (p.Val3122=)
c.9363G>A (p.Val3121=)
c.9285G>A (p.Val3095=)
c.9270G>A (p.Val3090=)
c.2484G>A (p.Val828=)
c.2463G>A (p.Val821=)
n.2523-818C>T
n.9361G>A
ClinVar dbSNP
5g.90716627G>CCA445413731ADGRV1c.9345G>C (p.Val3115=)
c.265+40418G>C (n.265+40418G>C)
n.4804G>C
c.3152G>C
n.2489G>C
c.4074G>C
c.2042G>C
n.9358G>C
c.9342G>C (p.Val3114=)
c.9264G>C (p.Val3088=)
c.6648G>C (p.Val2216=)
n.272-818C>G
c.9366G>C (p.Val3122=)
c.9363G>C (p.Val3121=)
c.9285G>C (p.Val3095=)
c.9270G>C (p.Val3090=)
c.2484G>C (p.Val828=)
c.2463G>C (p.Val821=)
n.2523-818C>G
n.9361G>C
5g.90716627G>TCA445413729ADGRV1c.9345G>T (p.Val3115=)
c.265+40418G>T (n.265+40418G>T)
n.4804G>T
c.3152G>T
n.2489G>T
c.4074G>T
c.2042G>T
n.9358G>T
c.9342G>T (p.Val3114=)
c.9264G>T (p.Val3088=)
c.6648G>T (p.Val2216=)
n.272-818C>A
c.9366G>T (p.Val3122=)
c.9363G>T (p.Val3121=)
c.9285G>T (p.Val3095=)
c.9270G>T (p.Val3090=)
c.2484G>T (p.Val828=)
c.2463G>T (p.Val821=)
n.2523-818C>A
n.9361G>T
5g.90716628A=CA1562870613ADGRV1c.9346A= (p.Thr3116=)
c.265+40419A= (n.265+40419A=)
n.4805A=
c.3153A=
n.2490A=
c.4075A=
c.2043A=
n.9359A=
c.9343A= (p.Thr3115=)
c.9265A= (p.Thr3089=)
c.6649A= (p.Thr2217=)
n.272-819T=
c.9367A= (p.Thr3123=)
c.9364A= (p.Thr3122=)
c.9286A= (p.Thr3096=)
c.9271A= (p.Thr3091=)
c.2485A= (p.Thr829=)
c.2464A= (p.Thr822=)
n.2523-819T=
n.9362A=
5g.90716628A>CCA360397468ADGRV1c.9346A>C (p.Thr3116Pro)
c.265+40419A>C (n.265+40419A>C)
n.4805A>C
c.3153A>C
n.2490A>C
c.4075A>C
c.2043A>C
n.9359A>C
c.9343A>C (p.Thr3115Pro)
c.9265A>C (p.Thr3089Pro)
c.6649A>C (p.Thr2217Pro)
n.272-819T>G
c.9367A>C (p.Thr3123Pro)
c.9364A>C (p.Thr3122Pro)
c.9286A>C (p.Thr3096Pro)
c.9271A>C (p.Thr3091Pro)
c.2485A>C (p.Thr829Pro)
c.2464A>C (p.Thr822Pro)
n.2523-819T>G
n.9362A>C
5g.90716628A>GCA360397469ADGRV1c.9346A>G (p.Thr3116Ala)
c.265+40419A>G (n.265+40419A>G)
n.4805A>G
c.3153A>G
n.2490A>G
c.4075A>G
c.2043A>G
n.9359A>G
c.9343A>G (p.Thr3115Ala)
c.9265A>G (p.Thr3089Ala)
c.6649A>G (p.Thr2217Ala)
n.272-819T>C
c.9367A>G (p.Thr3123Ala)
c.9364A>G (p.Thr3122Ala)
c.9286A>G (p.Thr3096Ala)
c.9271A>G (p.Thr3091Ala)
c.2485A>G (p.Thr829Ala)
c.2464A>G (p.Thr822Ala)
n.2523-819T>C
n.9362A>G
dbSNP gnomAD v3 gnomAD v4
5g.90716628A>TCA360397471ADGRV1c.9346A>T (p.Thr3116Ser)
c.265+40419A>T (n.265+40419A>T)
n.4805A>T
c.3153A>T
n.2490A>T
c.4075A>T
c.2043A>T
n.9359A>T
c.9343A>T (p.Thr3115Ser)
c.9265A>T (p.Thr3089Ser)
c.6649A>T (p.Thr2217Ser)
n.272-819T>A
c.9367A>T (p.Thr3123Ser)
c.9364A>T (p.Thr3122Ser)
c.9286A>T (p.Thr3096Ser)
c.9271A>T (p.Thr3091Ser)
c.2485A>T (p.Thr829Ser)
c.2464A>T (p.Thr822Ser)
n.2523-819T>A
n.9362A>T
dbSNP gnomAD v2
5g.90716629C>ACA360397473ADGRV1c.9347C>A (p.Thr3116Lys)
c.265+40420C>A (n.265+40420C>A)
n.4806C>A
c.3154C>A
n.2491C>A
c.4076C>A
c.2044C>A
n.9360C>A
c.9344C>A (p.Thr3115Lys)
c.9266C>A (p.Thr3089Lys)
c.6650C>A (p.Thr2217Lys)
n.272-820G>T
c.9368C>A (p.Thr3123Lys)
c.9365C>A (p.Thr3122Lys)
c.9287C>A (p.Thr3096Lys)
c.9272C>A (p.Thr3091Lys)
c.2486C>A (p.Thr829Lys)
c.2465C>A (p.Thr822Lys)
n.2523-820G>T
n.9363C>A
5g.90716629C>GCA360397474ADGRV1c.9347C>G (p.Thr3116Arg)
c.265+40420C>G (n.265+40420C>G)
n.4806C>G
c.3154C>G
n.2491C>G
c.4076C>G
c.2044C>G
n.9360C>G
c.9344C>G (p.Thr3115Arg)
c.9266C>G (p.Thr3089Arg)
c.6650C>G (p.Thr2217Arg)
n.272-820G>C
c.9368C>G (p.Thr3123Arg)
c.9365C>G (p.Thr3122Arg)
c.9287C>G (p.Thr3096Arg)
c.9272C>G (p.Thr3091Arg)
c.2486C>G (p.Thr829Arg)
c.2465C>G (p.Thr822Arg)
n.2523-820G>C
n.9363C>G
5g.90716629C>TCA360397476ADGRV1c.9347C>T (p.Thr3116Ile)
c.265+40420C>T (n.265+40420C>T)
n.4806C>T
c.3154C>T
n.2491C>T
c.4076C>T
c.2044C>T
n.9360C>T
c.9344C>T (p.Thr3115Ile)
c.9266C>T (p.Thr3089Ile)
c.6650C>T (p.Thr2217Ile)
n.272-820G>A
c.9368C>T (p.Thr3123Ile)
c.9365C>T (p.Thr3122Ile)
c.9287C>T (p.Thr3096Ile)
c.9272C>T (p.Thr3091Ile)
c.2486C>T (p.Thr829Ile)
c.2465C>T (p.Thr822Ile)
n.2523-820G>A
n.9363C>T
5g.90716636_90716640delCA2674547020ADGRV1c.9354_9358del (p.Gln3118HisfsTer10)
c.265+40427_265+40431del (n.265+40427_265+40431del)
n.4813_4817del
c.3161_3165del
n.2498_2502del
c.4083_4087del
c.2051_2055del
n.9367_9371del
c.9351_9355del (p.Gln3117HisfsTer10)
c.9273_9277del (p.Gln3091HisfsTer10)
c.6657_6661del (p.Gln2219HisfsTer10)
n.272-824_272-820del
c.9375_9379del (p.Gln3125HisfsTer10)
c.9372_9376del (p.Gln3124HisfsTer10)
c.9294_9298del (p.Gln3098HisfsTer10)
c.9279_9283del (p.Gln3093HisfsTer10)
c.2493_2497del (p.Gln831HisfsTer10)
c.2472_2476del (p.Gln824HisfsTer10)
n.2523-824_2523-820del
n.9370_9374del
gnomAD v4
5g.90716630A=CA1562870614ADGRV1c.9348A= (p.Thr3116=)
c.265+40421A= (n.265+40421A=)
n.4807A=
c.3155A=
n.2492A=
c.4077A=
c.2045A=
n.9361A=
c.9345A= (p.Thr3115=)
c.9267A= (p.Thr3089=)
c.6651A= (p.Thr2217=)
n.272-821T=
c.9369A= (p.Thr3123=)
c.9366A= (p.Thr3122=)
c.9288A= (p.Thr3096=)
c.9273A= (p.Thr3091=)
c.2487A= (p.Thr829=)
c.2466A= (p.Thr822=)
n.2523-821T=
n.9364A=
5g.90716630A>CCA445413734ADGRV1c.9348A>C (p.Thr3116=)
c.265+40421A>C (n.265+40421A>C)
n.4807A>C
c.3155A>C
n.2492A>C
c.4077A>C
c.2045A>C
n.9361A>C
c.9345A>C (p.Thr3115=)
c.9267A>C (p.Thr3089=)
c.6651A>C (p.Thr2217=)
n.272-821T>G
c.9369A>C (p.Thr3123=)
c.9366A>C (p.Thr3122=)
c.9288A>C (p.Thr3096=)
c.9273A>C (p.Thr3091=)
c.2487A>C (p.Thr829=)
c.2466A>C (p.Thr822=)
n.2523-821T>G
n.9364A>C
5g.90716630A>GCA3340483ADGRV1c.9348A>G (p.Thr3116=)
c.265+40421A>G (n.265+40421A>G)
n.4807A>G
c.3155A>G
n.2492A>G
c.4077A>G
c.2045A>G
n.9361A>G
c.9345A>G (p.Thr3115=)
c.9267A>G (p.Thr3089=)
c.6651A>G (p.Thr2217=)
n.272-821T>C
c.9369A>G (p.Thr3123=)
c.9366A>G (p.Thr3122=)
c.9288A>G (p.Thr3096=)
c.9273A>G (p.Thr3091=)
c.2487A>G (p.Thr829=)
c.2466A>G (p.Thr822=)
n.2523-821T>C
n.9364A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.90716630A>TCA445413736ADGRV1c.9348A>T (p.Thr3116=)
c.265+40421A>T (n.265+40421A>T)
n.4807A>T
c.3155A>T
n.2492A>T
c.4077A>T
c.2045A>T
n.9361A>T
c.9345A>T (p.Thr3115=)
c.9267A>T (p.Thr3089=)
c.6651A>T (p.Thr2217=)
n.272-821T>A
c.9369A>T (p.Thr3123=)
c.9366A>T (p.Thr3122=)
c.9288A>T (p.Thr3096=)
c.9273A>T (p.Thr3091=)
c.2487A>T (p.Thr829=)
c.2466A>T (p.Thr822=)
n.2523-821T>A
n.9364A>T
5g.90716631G>ACA360397482ADGRV1c.9349G>A (p.Val3117Ile)
c.265+40422G>A (n.265+40422G>A)
n.4808G>A
c.3156G>A
n.2493G>A
c.4078G>A
c.2046G>A
n.9362G>A
c.9346G>A (p.Val3116Ile)
c.9268G>A (p.Val3090Ile)
c.6652G>A (p.Val2218Ile)
n.272-822C>T
c.9370G>A (p.Val3124Ile)
c.9367G>A (p.Val3123Ile)
c.9289G>A (p.Val3097Ile)
c.9274G>A (p.Val3092Ile)
c.2488G>A (p.Val830Ile)
c.2467G>A (p.Val823Ile)
n.2523-822C>T
n.9365G>A
gnomAD v4 COSMIC
5g.90716631G>CCA360397479ADGRV1c.9349G>C (p.Val3117Leu)
c.265+40422G>C (n.265+40422G>C)
n.4808G>C
c.3156G>C
n.2493G>C
c.4078G>C
c.2046G>C
n.9362G>C
c.9346G>C (p.Val3116Leu)
c.9268G>C (p.Val3090Leu)
c.6652G>C (p.Val2218Leu)
n.272-822C>G
c.9370G>C (p.Val3124Leu)
c.9367G>C (p.Val3123Leu)
c.9289G>C (p.Val3097Leu)
c.9274G>C (p.Val3092Leu)
c.2488G>C (p.Val830Leu)
c.2467G>C (p.Val823Leu)
n.2523-822C>G
n.9365G>C
dbSNP
5g.90716631G=CA1562870615ADGRV1c.9349G= (p.Val3117=)
c.265+40422G= (n.265+40422G=)
n.4808G=
c.3156G=
n.2493G=
c.4078G=
c.2046G=
n.9362G=
c.9346G= (p.Val3116=)
c.9268G= (p.Val3090=)
c.6652G= (p.Val2218=)
n.272-822C=
c.9370G= (p.Val3124=)
c.9367G= (p.Val3123=)
c.9289G= (p.Val3097=)
c.9274G= (p.Val3092=)
c.2488G= (p.Val830=)
c.2467G= (p.Val823=)
n.2523-822C=
n.9365G=
5g.90716631G>TCA360397480ADGRV1c.9349G>T (p.Val3117Phe)
c.265+40422G>T (n.265+40422G>T)
n.4808G>T
c.3156G>T
n.2493G>T
c.4078G>T
c.2046G>T
n.9362G>T
c.9346G>T (p.Val3116Phe)
c.9268G>T (p.Val3090Phe)
c.6652G>T (p.Val2218Phe)
n.272-822C>A
c.9370G>T (p.Val3124Phe)
c.9367G>T (p.Val3123Phe)
c.9289G>T (p.Val3097Phe)
c.9274G>T (p.Val3092Phe)
c.2488G>T (p.Val830Phe)
c.2467G>T (p.Val823Phe)
n.2523-822C>A
n.9365G>T
5g.90716632T>ACA360397484ADGRV1c.9350T>A (p.Val3117Asp)
c.265+40423T>A (n.265+40423T>A)
n.4809T>A
c.3157T>A
n.2494T>A
c.4079T>A
c.2047T>A
n.9363T>A
c.9347T>A (p.Val3116Asp)
c.9269T>A (p.Val3090Asp)
c.6653T>A (p.Val2218Asp)
n.272-823A>T
c.9371T>A (p.Val3124Asp)
c.9368T>A (p.Val3123Asp)
c.9290T>A (p.Val3097Asp)
c.9275T>A (p.Val3092Asp)
c.2489T>A (p.Val830Asp)
c.2468T>A (p.Val823Asp)
n.2523-823A>T
n.9366T>A
5g.90716632T>CCA360397485ADGRV1c.9350T>C (p.Val3117Ala)
c.265+40423T>C (n.265+40423T>C)
n.4809T>C
c.3157T>C
n.2494T>C
c.4079T>C
c.2047T>C
n.9363T>C
c.9347T>C (p.Val3116Ala)
c.9269T>C (p.Val3090Ala)
c.6653T>C (p.Val2218Ala)
n.272-823A>G
c.9371T>C (p.Val3124Ala)
c.9368T>C (p.Val3123Ala)
c.9290T>C (p.Val3097Ala)
c.9275T>C (p.Val3092Ala)
c.2489T>C (p.Val830Ala)
c.2468T>C (p.Val823Ala)
n.2523-823A>G
n.9366T>C
gnomAD v4
5g.90716632T>GCA360397486ADGRV1c.9350T>G (p.Val3117Gly)
c.265+40423T>G (n.265+40423T>G)
n.4809T>G
c.3157T>G
n.2494T>G
c.4079T>G
c.2047T>G
n.9363T>G
c.9347T>G (p.Val3116Gly)
c.9269T>G (p.Val3090Gly)
c.6653T>G (p.Val2218Gly)
n.272-823A>C
c.9371T>G (p.Val3124Gly)
c.9368T>G (p.Val3123Gly)
c.9290T>G (p.Val3097Gly)
c.9275T>G (p.Val3092Gly)
c.2489T>G (p.Val830Gly)
c.2468T>G (p.Val823Gly)
n.2523-823A>C
n.9366T>G
dbSNP
5g.90716632T=CA1562870616ADGRV1c.9350T= (p.Val3117=)
c.265+40423T= (n.265+40423T=)
n.4809T=
c.3157T=
n.2494T=
c.4079T=
c.2047T=
n.9363T=
c.9347T= (p.Val3116=)
c.9269T= (p.Val3090=)
c.6653T= (p.Val2218=)
n.272-823A=
c.9371T= (p.Val3124=)
c.9368T= (p.Val3123=)
c.9290T= (p.Val3097=)
c.9275T= (p.Val3092=)
c.2489T= (p.Val830=)
c.2468T= (p.Val823=)
n.2523-823A=
n.9366T=
5g.90716633T>ACA445413743ADGRV1c.9351T>A (p.Val3117=)
c.265+40424T>A (n.265+40424T>A)
n.4810T>A
c.3158T>A
n.2495T>A
c.4080T>A
c.2048T>A
n.9364T>A
c.9348T>A (p.Val3116=)
c.9270T>A (p.Val3090=)
c.6654T>A (p.Val2218=)
n.272-824A>T
c.9372T>A (p.Val3124=)
c.9369T>A (p.Val3123=)
c.9291T>A (p.Val3097=)
c.9276T>A (p.Val3092=)
c.2490T>A (p.Val830=)
c.2469T>A (p.Val823=)
n.2523-824A>T
n.9367T>A
5g.90716633T>CCA445413746ADGRV1c.9351T>C (p.Val3117=)
c.265+40424T>C (n.265+40424T>C)
n.4810T>C
c.3158T>C
n.2495T>C
c.4080T>C
c.2048T>C
n.9364T>C
c.9348T>C (p.Val3116=)
c.9270T>C (p.Val3090=)
c.6654T>C (p.Val2218=)
n.272-824A>G
c.9372T>C (p.Val3124=)
c.9369T>C (p.Val3123=)
c.9291T>C (p.Val3097=)
c.9276T>C (p.Val3092=)
c.2490T>C (p.Val830=)
c.2469T>C (p.Val823=)
n.2523-824A>G
n.9367T>C
5g.90716633T>GCA445413744ADGRV1c.9351T>G (p.Val3117=)
c.265+40424T>G (n.265+40424T>G)
n.4810T>G
c.3158T>G
n.2495T>G
c.4080T>G
c.2048T>G
n.9364T>G
c.9348T>G (p.Val3116=)
c.9270T>G (p.Val3090=)
c.6654T>G (p.Val2218=)
n.272-824A>C
c.9372T>G (p.Val3124=)
c.9369T>G (p.Val3123=)
c.9291T>G (p.Val3097=)
c.9276T>G (p.Val3092=)
c.2490T>G (p.Val830=)
c.2469T>G (p.Val823=)
n.2523-824A>C
n.9367T>G
5g.90716634C>ACA360397488ADGRV1c.9352C>A (p.Gln3118Lys)
c.265+40425C>A (n.265+40425C>A)
n.4811C>A
c.3159C>A
n.2496C>A
c.4081C>A
c.2049C>A
n.9365C>A
c.9349C>A (p.Gln3117Lys)
c.9271C>A (p.Gln3091Lys)
c.6655C>A (p.Gln2219Lys)
n.272-825G>T
c.9373C>A (p.Gln3125Lys)
c.9370C>A (p.Gln3124Lys)
c.9292C>A (p.Gln3098Lys)
c.9277C>A (p.Gln3093Lys)
c.2491C>A (p.Gln831Lys)
c.2470C>A (p.Gln824Lys)
n.2523-825G>T
n.9368C>A
5g.90716634C>GCA360397490ADGRV1c.9352C>G (p.Gln3118Glu)
c.265+40425C>G (n.265+40425C>G)
n.4811C>G
c.3159C>G
n.2496C>G
c.4081C>G
c.2049C>G
n.9365C>G
c.9349C>G (p.Gln3117Glu)
c.9271C>G (p.Gln3091Glu)
c.6655C>G (p.Gln2219Glu)
n.272-825G>C
c.9373C>G (p.Gln3125Glu)
c.9370C>G (p.Gln3124Glu)
c.9292C>G (p.Gln3098Glu)
c.9277C>G (p.Gln3093Glu)
c.2491C>G (p.Gln831Glu)
c.2470C>G (p.Gln824Glu)
n.2523-825G>C
n.9368C>G
gnomAD v4
5g.90716634C>TCA360397491ADGRV1c.9352C>T (p.Gln3118Ter)
c.265+40425C>T (n.265+40425C>T)
n.4811C>T
c.3159C>T
n.2496C>T
c.4081C>T
c.2049C>T
n.9365C>T
c.9349C>T (p.Gln3117Ter)
c.9271C>T (p.Gln3091Ter)
c.6655C>T (p.Gln2219Ter)
n.272-825G>A
c.9373C>T (p.Gln3125Ter)
c.9370C>T (p.Gln3124Ter)
c.9292C>T (p.Gln3098Ter)
c.9277C>T (p.Gln3093Ter)
c.2491C>T (p.Gln831Ter)
c.2470C>T (p.Gln824Ter)
n.2523-825G>A
n.9368C>T
COSMIC
5g.90716635A>CCA360397493ADGRV1c.9353A>C (p.Gln3118Pro)
c.265+40426A>C (n.265+40426A>C)
n.4812A>C
c.3160A>C
n.2497A>C
c.4082A>C
c.2050A>C
n.9366A>C
c.9350A>C (p.Gln3117Pro)
c.9272A>C (p.Gln3091Pro)
c.6656A>C (p.Gln2219Pro)
n.272-826T>G
c.9374A>C (p.Gln3125Pro)
c.9371A>C (p.Gln3124Pro)
c.9293A>C (p.Gln3098Pro)
c.9278A>C (p.Gln3093Pro)
c.2492A>C (p.Gln831Pro)
c.2471A>C (p.Gln824Pro)
n.2523-826T>G
n.9369A>C
5g.90716635A>GCA360397494ADGRV1c.9353A>G (p.Gln3118Arg)
c.265+40426A>G (n.265+40426A>G)
n.4812A>G
c.3160A>G
n.2497A>G
c.4082A>G
c.2050A>G
n.9366A>G
c.9350A>G (p.Gln3117Arg)
c.9272A>G (p.Gln3091Arg)
c.6656A>G (p.Gln2219Arg)
n.272-826T>C
c.9374A>G (p.Gln3125Arg)
c.9371A>G (p.Gln3124Arg)
c.9293A>G (p.Gln3098Arg)
c.9278A>G (p.Gln3093Arg)
c.2492A>G (p.Gln831Arg)
c.2471A>G (p.Gln824Arg)
n.2523-826T>C
n.9369A>G
5g.90716635A>TCA360397496ADGRV1c.9353A>T (p.Gln3118Leu)
c.265+40426A>T (n.265+40426A>T)
n.4812A>T
c.3160A>T
n.2497A>T
c.4082A>T
c.2050A>T
n.9366A>T
c.9350A>T (p.Gln3117Leu)
c.9272A>T (p.Gln3091Leu)
c.6656A>T (p.Gln2219Leu)
n.272-826T>A
c.9374A>T (p.Gln3125Leu)
c.9371A>T (p.Gln3124Leu)
c.9293A>T (p.Gln3098Leu)
c.9278A>T (p.Gln3093Leu)
c.2492A>T (p.Gln831Leu)
c.2471A>T (p.Gln824Leu)
n.2523-826T>A
n.9369A>T
5g.90716636G>ACA445413751ADGRV1c.9354G>A (p.Gln3118=)
c.265+40427G>A (n.265+40427G>A)
n.4813G>A
c.3161G>A
n.2498G>A
c.4083G>A
c.2051G>A
n.9367G>A
c.9351G>A (p.Gln3117=)
c.9273G>A (p.Gln3091=)
c.6657G>A (p.Gln2219=)
n.272-827C>T
c.9375G>A (p.Gln3125=)
c.9372G>A (p.Gln3124=)
c.9294G>A (p.Gln3098=)
c.9279G>A (p.Gln3093=)
c.2493G>A (p.Gln831=)
c.2472G>A (p.Gln824=)
n.2523-827C>T
n.9370G>A
5g.90716636G>CCA360397497ADGRV1c.9354G>C (p.Gln3118His)
c.265+40427G>C (n.265+40427G>C)
n.4813G>C
c.3161G>C
n.2498G>C
c.4083G>C
c.2051G>C
n.9367G>C
c.9351G>C (p.Gln3117His)
c.9273G>C (p.Gln3091His)
c.6657G>C (p.Gln2219His)
n.272-827C>G
c.9375G>C (p.Gln3125His)
c.9372G>C (p.Gln3124His)
c.9294G>C (p.Gln3098His)
c.9279G>C (p.Gln3093His)
c.2493G>C (p.Gln831His)
c.2472G>C (p.Gln824His)
n.2523-827C>G
n.9370G>C
5g.90716636G>TCA360397499ADGRV1c.9354G>T (p.Gln3118His)
c.265+40427G>T (n.265+40427G>T)
n.4813G>T
c.3161G>T
n.2498G>T
c.4083G>T
c.2051G>T
n.9367G>T
c.9351G>T (p.Gln3117His)
c.9273G>T (p.Gln3091His)
c.6657G>T (p.Gln2219His)
n.272-827C>A
c.9375G>T (p.Gln3125His)
c.9372G>T (p.Gln3124His)
c.9294G>T (p.Gln3098His)
c.9279G>T (p.Gln3093His)
c.2493G>T (p.Gln831His)
c.2472G>T (p.Gln824His)
n.2523-827C>A
n.9370G>T
5g.90716637T>ACA360397501ADGRV1c.9355T>A (p.Phe3119Ile)
c.265+40428T>A (n.265+40428T>A)
n.4814T>A
c.3162T>A
n.2499T>A
c.4084T>A
c.2052T>A
n.9368T>A
c.9352T>A (p.Phe3118Ile)
c.9274T>A (p.Phe3092Ile)
c.6658T>A (p.Phe2220Ile)
n.272-828A>T
c.9376T>A (p.Phe3126Ile)
c.9373T>A (p.Phe3125Ile)
c.9295T>A (p.Phe3099Ile)
c.9280T>A (p.Phe3094Ile)
c.2494T>A (p.Phe832Ile)
c.2473T>A (p.Phe825Ile)
n.2523-828A>T
n.9371T>A
5g.90716637T>CCA360397504ADGRV1c.9355T>C (p.Phe3119Leu)
c.265+40428T>C (n.265+40428T>C)
n.4814T>C
c.3162T>C
n.2499T>C
c.4084T>C
c.2052T>C
n.9368T>C
c.9352T>C (p.Phe3118Leu)
c.9274T>C (p.Phe3092Leu)
c.6658T>C (p.Phe2220Leu)
n.272-828A>G
c.9376T>C (p.Phe3126Leu)
c.9373T>C (p.Phe3125Leu)
c.9295T>C (p.Phe3099Leu)
c.9280T>C (p.Phe3094Leu)
c.2494T>C (p.Phe832Leu)
c.2473T>C (p.Phe825Leu)
n.2523-828A>G
n.9371T>C
5g.90716637T>GCA360397502ADGRV1c.9355T>G (p.Phe3119Val)
c.265+40428T>G (n.265+40428T>G)
n.4814T>G
c.3162T>G
n.2499T>G
c.4084T>G
c.2052T>G
n.9368T>G
c.9352T>G (p.Phe3118Val)
c.9274T>G (p.Phe3092Val)
c.6658T>G (p.Phe2220Val)
n.272-828A>C
c.9376T>G (p.Phe3126Val)
c.9373T>G (p.Phe3125Val)
c.9295T>G (p.Phe3099Val)
c.9280T>G (p.Phe3094Val)
c.2494T>G (p.Phe832Val)
c.2473T>G (p.Phe825Val)
n.2523-828A>C
n.9371T>G
5g.90716638T>ACA360397506ADGRV1c.9356T>A (p.Phe3119Tyr)
c.265+40429T>A (n.265+40429T>A)
n.4815T>A
c.3163T>A
n.2500T>A
c.4085T>A
c.2053T>A
n.9369T>A
c.9353T>A (p.Phe3118Tyr)
c.9275T>A (p.Phe3092Tyr)
c.6659T>A (p.Phe2220Tyr)
n.272-829A>T
c.9377T>A (p.Phe3126Tyr)
c.9374T>A (p.Phe3125Tyr)
c.9296T>A (p.Phe3099Tyr)
c.9281T>A (p.Phe3094Tyr)
c.2495T>A (p.Phe832Tyr)
c.2474T>A (p.Phe825Tyr)
n.2523-829A>T
n.9372T>A
5g.90716638T>CCA360397507ADGRV1c.9356T>C (p.Phe3119Ser)
c.265+40429T>C (n.265+40429T>C)
n.4815T>C
c.3163T>C
n.2500T>C
c.4085T>C
c.2053T>C
n.9369T>C
c.9353T>C (p.Phe3118Ser)
c.9275T>C (p.Phe3092Ser)
c.6659T>C (p.Phe2220Ser)
n.272-829A>G
c.9377T>C (p.Phe3126Ser)
c.9374T>C (p.Phe3125Ser)
c.9296T>C (p.Phe3099Ser)
c.9281T>C (p.Phe3094Ser)
c.2495T>C (p.Phe832Ser)
c.2474T>C (p.Phe825Ser)
n.2523-829A>G
n.9372T>C
5g.90716638T>GCA360397508ADGRV1c.9356T>G (p.Phe3119Cys)
c.265+40429T>G (n.265+40429T>G)
n.4815T>G
c.3163T>G
n.2500T>G
c.4085T>G
c.2053T>G
n.9369T>G
c.9353T>G (p.Phe3118Cys)
c.9275T>G (p.Phe3092Cys)
c.6659T>G (p.Phe2220Cys)
n.272-829A>C
c.9377T>G (p.Phe3126Cys)
c.9374T>G (p.Phe3125Cys)
c.9296T>G (p.Phe3099Cys)
c.9281T>G (p.Phe3094Cys)
c.2495T>G (p.Phe832Cys)
c.2474T>G (p.Phe825Cys)
n.2523-829A>C
n.9372T>G
5g.90716639C>ACA360397510ADGRV1c.9357C>A (p.Phe3119Leu)
c.265+40430C>A (n.265+40430C>A)
n.4816C>A
c.3164C>A
n.2501C>A
c.4086C>A
c.2054C>A
n.9370C>A
c.9354C>A (p.Phe3118Leu)
c.9276C>A (p.Phe3092Leu)
c.6660C>A (p.Phe2220Leu)
n.272-830G>T
c.9378C>A (p.Phe3126Leu)
c.9375C>A (p.Phe3125Leu)
c.9297C>A (p.Phe3099Leu)
c.9282C>A (p.Phe3094Leu)
c.2496C>A (p.Phe832Leu)
c.2475C>A (p.Phe825Leu)
n.2523-830G>T
n.9373C>A
5g.90716639C>GCA360397512ADGRV1c.9357C>G (p.Phe3119Leu)
c.265+40430C>G (n.265+40430C>G)
n.4816C>G
c.3164C>G
n.2501C>G
c.4086C>G
c.2054C>G
n.9370C>G
c.9354C>G (p.Phe3118Leu)
c.9276C>G (p.Phe3092Leu)
c.6660C>G (p.Phe2220Leu)
n.272-830G>C
c.9378C>G (p.Phe3126Leu)
c.9375C>G (p.Phe3125Leu)
c.9297C>G (p.Phe3099Leu)
c.9282C>G (p.Phe3094Leu)
c.2496C>G (p.Phe832Leu)
c.2475C>G (p.Phe825Leu)
n.2523-830G>C
n.9373C>G
5g.90716639C>TCA445413760ADGRV1c.9357C>T (p.Phe3119=)
c.265+40430C>T (n.265+40430C>T)
n.4816C>T
c.3164C>T
n.2501C>T
c.4086C>T
c.2054C>T
n.9370C>T
c.9354C>T (p.Phe3118=)
c.9276C>T (p.Phe3092=)
c.6660C>T (p.Phe2220=)
n.272-830G>A
c.9378C>T (p.Phe3126=)
c.9375C>T (p.Phe3125=)
c.9297C>T (p.Phe3099=)
c.9282C>T (p.Phe3094=)
c.2496C>T (p.Phe832=)
c.2475C>T (p.Phe825=)
n.2523-830G>A
n.9373C>T
ClinVar
5g.90716640A>CCA360397514ADGRV1c.9358A>C (p.Ile3120Leu)
c.265+40431A>C (n.265+40431A>C)
n.4817A>C
c.3165A>C
n.2502A>C
c.4087A>C
c.2055A>C
n.9371A>C
c.9355A>C (p.Ile3119Leu)
c.9277A>C (p.Ile3093Leu)
c.6661A>C (p.Ile2221Leu)
n.272-831T>G
c.9379A>C (p.Ile3127Leu)
c.9376A>C (p.Ile3126Leu)
c.9298A>C (p.Ile3100Leu)
c.9283A>C (p.Ile3095Leu)
c.2497A>C (p.Ile833Leu)
c.2476A>C (p.Ile826Leu)
n.2523-831T>G
n.9374A>C
5g.90716640A>GCA360397515ADGRV1c.9358A>G (p.Ile3120Val)
c.265+40431A>G (n.265+40431A>G)
n.4817A>G
c.3165A>G
n.2502A>G
c.4087A>G
c.2055A>G
n.9371A>G
c.9355A>G (p.Ile3119Val)
c.9277A>G (p.Ile3093Val)
c.6661A>G (p.Ile2221Val)
n.272-831T>C
c.9379A>G (p.Ile3127Val)
c.9376A>G (p.Ile3126Val)
c.9298A>G (p.Ile3100Val)
c.9283A>G (p.Ile3095Val)
c.2497A>G (p.Ile833Val)
c.2476A>G (p.Ile826Val)
n.2523-831T>C
n.9374A>G
5g.90716640A>TCA360397517ADGRV1c.9358A>T (p.Ile3120Phe)
c.265+40431A>T (n.265+40431A>T)
n.4817A>T
c.3165A>T
n.2502A>T
c.4087A>T
c.2055A>T
n.9371A>T
c.9355A>T (p.Ile3119Phe)
c.9277A>T (p.Ile3093Phe)
c.6661A>T (p.Ile2221Phe)
n.272-831T>A
c.9379A>T (p.Ile3127Phe)
c.9376A>T (p.Ile3126Phe)
c.9298A>T (p.Ile3100Phe)
c.9283A>T (p.Ile3095Phe)
c.2497A>T (p.Ile833Phe)
c.2476A>T (p.Ile826Phe)
n.2523-831T>A
n.9374A>T
5g.90716641T>ACA360397519ADGRV1c.9359T>A (p.Ile3120Asn)
c.265+40432T>A (n.265+40432T>A)
n.4818T>A
c.3166T>A
n.2503T>A
c.4088T>A
c.2056T>A
n.9372T>A
c.9356T>A (p.Ile3119Asn)
c.9278T>A (p.Ile3093Asn)
c.6662T>A (p.Ile2221Asn)
n.272-832A>T
c.9380T>A (p.Ile3127Asn)
c.9377T>A (p.Ile3126Asn)
c.9299T>A (p.Ile3100Asn)
c.9284T>A (p.Ile3095Asn)
c.2498T>A (p.Ile833Asn)
c.2477T>A (p.Ile826Asn)
n.2523-832A>T
n.9375T>A
5g.90716641T>CCA360397520ADGRV1c.9359T>C (p.Ile3120Thr)
c.265+40432T>C (n.265+40432T>C)
n.4818T>C
c.3166T>C
n.2503T>C
c.4088T>C
c.2056T>C
n.9372T>C
c.9356T>C (p.Ile3119Thr)
c.9278T>C (p.Ile3093Thr)
c.6662T>C (p.Ile2221Thr)
n.272-832A>G
c.9380T>C (p.Ile3127Thr)
c.9377T>C (p.Ile3126Thr)
c.9299T>C (p.Ile3100Thr)
c.9284T>C (p.Ile3095Thr)
c.2498T>C (p.Ile833Thr)
c.2477T>C (p.Ile826Thr)
n.2523-832A>G
n.9375T>C
dbSNP gnomAD v2 gnomAD v4
5g.90716641T>GCA360397521ADGRV1c.9359T>G (p.Ile3120Ser)
c.265+40432T>G (n.265+40432T>G)
n.4818T>G
c.3166T>G
n.2503T>G
c.4088T>G
c.2056T>G
n.9372T>G
c.9356T>G (p.Ile3119Ser)
c.9278T>G (p.Ile3093Ser)
c.6662T>G (p.Ile2221Ser)
n.272-832A>C
c.9380T>G (p.Ile3127Ser)
c.9377T>G (p.Ile3126Ser)
c.9299T>G (p.Ile3100Ser)
c.9284T>G (p.Ile3095Ser)
c.2498T>G (p.Ile833Ser)
c.2477T>G (p.Ile826Ser)
n.2523-832A>C
n.9375T>G
5g.90716641T=CA1562870617ADGRV1c.9359T= (p.Ile3120=)
c.265+40432T= (n.265+40432T=)
n.4818T=
c.3166T=
n.2503T=
c.4088T=
c.2056T=
n.9372T=
c.9356T= (p.Ile3119=)
c.9278T= (p.Ile3093=)
c.6662T= (p.Ile2221=)
n.272-832A=
c.9380T= (p.Ile3127=)
c.9377T= (p.Ile3126=)
c.9299T= (p.Ile3100=)
c.9284T= (p.Ile3095=)
c.2498T= (p.Ile833=)
c.2477T= (p.Ile826=)
n.2523-832A=
n.9375T=
5g.90716642T>ACA445413773ADGRV1c.9360T>A (p.Ile3120=)
c.265+40433T>A (n.265+40433T>A)
n.4819T>A
c.3167T>A
n.2504T>A
c.4089T>A
c.2057T>A
n.9373T>A
c.9357T>A (p.Ile3119=)
c.9279T>A (p.Ile3093=)
c.6663T>A (p.Ile2221=)
n.272-833A>T
c.9381T>A (p.Ile3127=)
c.9378T>A (p.Ile3126=)
c.9300T>A (p.Ile3100=)
c.9285T>A (p.Ile3095=)
c.2499T>A (p.Ile833=)
c.2478T>A (p.Ile826=)
n.2523-833A>T
n.9376T>A
5g.90716642T>CCA445413769ADGRV1c.9360T>C (p.Ile3120=)
c.265+40433T>C (n.265+40433T>C)
n.4819T>C
c.3167T>C
n.2504T>C
c.4089T>C
c.2057T>C
n.9373T>C
c.9357T>C (p.Ile3119=)
c.9279T>C (p.Ile3093=)
c.6663T>C (p.Ile2221=)
n.272-833A>G
c.9381T>C (p.Ile3127=)
c.9378T>C (p.Ile3126=)
c.9300T>C (p.Ile3100=)
c.9285T>C (p.Ile3095=)
c.2499T>C (p.Ile833=)
c.2478T>C (p.Ile826=)
n.2523-833A>G
n.9376T>C
5g.90716642T>GCA360397522ADGRV1c.9360T>G (p.Ile3120Met)
c.265+40433T>G (n.265+40433T>G)
n.4819T>G
c.3167T>G
n.2504T>G
c.4089T>G
c.2057T>G
n.9373T>G
c.9357T>G (p.Ile3119Met)
c.9279T>G (p.Ile3093Met)
c.6663T>G (p.Ile2221Met)
n.272-833A>C
c.9381T>G (p.Ile3127Met)
c.9378T>G (p.Ile3126Met)
c.9300T>G (p.Ile3100Met)
c.9285T>G (p.Ile3095Met)
c.2499T>G (p.Ile833Met)
c.2478T>G (p.Ile826Met)
n.2523-833A>C
n.9376T>G
5g.90716643G>ACA360397523ADGRV1c.9361G>A (p.Val3121Met)
c.265+40434G>A (n.265+40434G>A)
n.4820G>A
c.3168G>A
n.2505G>A
c.4090G>A
c.2058G>A
n.9374G>A
c.9358G>A (p.Val3120Met)
c.9280G>A (p.Val3094Met)
c.6664G>A (p.Val2222Met)
n.272-834C>T
c.9382G>A (p.Val3128Met)
c.9379G>A (p.Val3127Met)
c.9301G>A (p.Val3101Met)
c.9286G>A (p.Val3096Met)
c.2500G>A (p.Val834Met)
c.2479G>A (p.Val827Met)
n.2523-834C>T
n.9377G>A
dbSNP gnomAD v3 gnomAD v4
5g.90716643G>CCA360397527ADGRV1c.9361G>C (p.Val3121Leu)
c.265+40434G>C (n.265+40434G>C)
n.4820G>C
c.3168G>C
n.2505G>C
c.4090G>C
c.2058G>C
n.9374G>C
c.9358G>C (p.Val3120Leu)
c.9280G>C (p.Val3094Leu)
c.6664G>C (p.Val2222Leu)
n.272-834C>G
c.9382G>C (p.Val3128Leu)
c.9379G>C (p.Val3127Leu)
c.9301G>C (p.Val3101Leu)
c.9286G>C (p.Val3096Leu)
c.2500G>C (p.Val834Leu)
c.2479G>C (p.Val827Leu)
n.2523-834C>G
n.9377G>C
5g.90716643G=CA1562870618ADGRV1c.9361G= (p.Val3121=)
c.265+40434G= (n.265+40434G=)
n.4820G=
c.3168G=
n.2505G=
c.4090G=
c.2058G=
n.9374G=
c.9358G= (p.Val3120=)
c.9280G= (p.Val3094=)
c.6664G= (p.Val2222=)
n.272-834C=
c.9382G= (p.Val3128=)
c.9379G= (p.Val3127=)
c.9301G= (p.Val3101=)
c.9286G= (p.Val3096=)
c.2500G= (p.Val834=)
c.2479G= (p.Val827=)
n.2523-834C=
n.9377G=
5g.90716643G>TCA360397525ADGRV1c.9361G>T (p.Val3121Leu)
c.265+40434G>T (n.265+40434G>T)
n.4820G>T
c.3168G>T
n.2505G>T
c.4090G>T
c.2058G>T
n.9374G>T
c.9358G>T (p.Val3120Leu)
c.9280G>T (p.Val3094Leu)
c.6664G>T (p.Val2222Leu)
n.272-834C>A
c.9382G>T (p.Val3128Leu)
c.9379G>T (p.Val3127Leu)
c.9301G>T (p.Val3101Leu)
c.9286G>T (p.Val3096Leu)
c.2500G>T (p.Val834Leu)
c.2479G>T (p.Val827Leu)
n.2523-834C>A
n.9377G>T
COSMIC
5g.90716647_90716655delCA2767420173ADGRV1c.9365_9373del (p.Thr3122_Val3124del)
c.265+40438_265+40446del (n.265+40438_265+40446del)
n.4824_4832del
c.3172_3180del
n.2509_2517del
c.4094_4102del
c.2062_2070del
n.9378_9386del
c.9362_9370del (p.Thr3121_Val3123del)
c.9284_9292del (p.Thr3095_Val3097del)
c.6668_6676del (p.Thr2223_Val2225del)
n.272-842_272-834del
c.9386_9394del (p.Thr3129_Val3131del)
c.9383_9391del (p.Thr3128_Val3130del)
c.9305_9313del (p.Thr3102_Val3104del)
c.9290_9298del (p.Thr3097_Val3099del)
c.2504_2512del (p.Thr835_Val837del)
c.2483_2491del (p.Thr828_Val830del)
n.2523-842_2523-834del
n.9381_9389del
5g.90716644T>ACA360397529ADGRV1c.9362T>A (p.Val3121Glu)
c.265+40435T>A (n.265+40435T>A)
n.4821T>A
c.3169T>A
n.2506T>A
c.4091T>A
c.2059T>A
n.9375T>A
c.9359T>A (p.Val3120Glu)
c.9281T>A (p.Val3094Glu)
c.6665T>A (p.Val2222Glu)
n.272-835A>T
c.9383T>A (p.Val3128Glu)
c.9380T>A (p.Val3127Glu)
c.9302T>A (p.Val3101Glu)
c.9287T>A (p.Val3096Glu)
c.2501T>A (p.Val834Glu)
c.2480T>A (p.Val827Glu)
n.2523-835A>T
n.9378T>A
5g.90716644T>CCA360397530ADGRV1c.9362T>C (p.Val3121Ala)
c.265+40435T>C (n.265+40435T>C)
n.4821T>C
c.3169T>C
n.2506T>C
c.4091T>C
c.2059T>C
n.9375T>C
c.9359T>C (p.Val3120Ala)
c.9281T>C (p.Val3094Ala)
c.6665T>C (p.Val2222Ala)
n.272-835A>G
c.9383T>C (p.Val3128Ala)
c.9380T>C (p.Val3127Ala)
c.9302T>C (p.Val3101Ala)
c.9287T>C (p.Val3096Ala)
c.2501T>C (p.Val834Ala)
c.2480T>C (p.Val827Ala)
n.2523-835A>G
n.9378T>C
gnomAD v4
5g.90716644T>GCA360397531ADGRV1c.9362T>G (p.Val3121Gly)
c.265+40435T>G (n.265+40435T>G)
n.4821T>G
c.3169T>G
n.2506T>G
c.4091T>G
c.2059T>G
n.9375T>G
c.9359T>G (p.Val3120Gly)
c.9281T>G (p.Val3094Gly)
c.6665T>G (p.Val2222Gly)
n.272-835A>C
c.9383T>G (p.Val3128Gly)
c.9380T>G (p.Val3127Gly)
c.9302T>G (p.Val3101Gly)
c.9287T>G (p.Val3096Gly)
c.2501T>G (p.Val834Gly)
c.2480T>G (p.Val827Gly)
n.2523-835A>C
n.9378T>G
5g.90716645G>ACA445413775ADGRV1c.9363G>A (p.Val3121=)
c.265+40436G>A (n.265+40436G>A)
n.4822G>A
c.3170G>A
n.2507G>A
c.4092G>A
c.2060G>A
n.9376G>A
c.9360G>A (p.Val3120=)
c.9282G>A (p.Val3094=)
c.6666G>A (p.Val2222=)
n.272-836C>T
c.9384G>A (p.Val3128=)
c.9381G>A (p.Val3127=)
c.9303G>A (p.Val3101=)
c.9288G>A (p.Val3096=)
c.2502G>A (p.Val834=)
c.2481G>A (p.Val827=)
n.2523-836C>T
n.9379G>A
5g.90716645G>CCA445413777ADGRV1c.9363G>C (p.Val3121=)
c.265+40436G>C (n.265+40436G>C)
n.4822G>C
c.3170G>C
n.2507G>C
c.4092G>C
c.2060G>C
n.9376G>C
c.9360G>C (p.Val3120=)
c.9282G>C (p.Val3094=)
c.6666G>C (p.Val2222=)
n.272-836C>G
c.9384G>C (p.Val3128=)
c.9381G>C (p.Val3127=)
c.9303G>C (p.Val3101=)
c.9288G>C (p.Val3096=)
c.2502G>C (p.Val834=)
c.2481G>C (p.Val827=)
n.2523-836C>G
n.9379G>C
5g.90716645G>TCA445413778ADGRV1c.9363G>T (p.Val3121=)
c.265+40436G>T (n.265+40436G>T)
n.4822G>T
c.3170G>T
n.2507G>T
c.4092G>T
c.2060G>T
n.9376G>T
c.9360G>T (p.Val3120=)
c.9282G>T (p.Val3094=)
c.6666G>T (p.Val2222=)
n.272-836C>A
c.9384G>T (p.Val3128=)
c.9381G>T (p.Val3127=)
c.9303G>T (p.Val3101=)
c.9288G>T (p.Val3096=)
c.2502G>T (p.Val834=)
c.2481G>T (p.Val827=)
n.2523-836C>A
n.9379G>T
5g.90716646A>CCA360397533ADGRV1c.9364A>C (p.Thr3122Pro)
c.265+40437A>C (n.265+40437A>C)
n.4823A>C
c.3171A>C
n.2508A>C
c.4093A>C
c.2061A>C
n.9377A>C
c.9361A>C (p.Thr3121Pro)
c.9283A>C (p.Thr3095Pro)
c.6667A>C (p.Thr2223Pro)
n.272-837T>G
c.9385A>C (p.Thr3129Pro)
c.9382A>C (p.Thr3128Pro)
c.9304A>C (p.Thr3102Pro)
c.9289A>C (p.Thr3097Pro)
c.2503A>C (p.Thr835Pro)
c.2482A>C (p.Thr828Pro)
n.2523-837T>G
n.9380A>C
5g.90716646A>GCA360397535ADGRV1c.9364A>G (p.Thr3122Ala)
c.265+40437A>G (n.265+40437A>G)
n.4823A>G
c.3171A>G
n.2508A>G
c.4093A>G
c.2061A>G
n.9377A>G
c.9361A>G (p.Thr3121Ala)
c.9283A>G (p.Thr3095Ala)
c.6667A>G (p.Thr2223Ala)
n.272-837T>C
c.9385A>G (p.Thr3129Ala)
c.9382A>G (p.Thr3128Ala)
c.9304A>G (p.Thr3102Ala)
c.9289A>G (p.Thr3097Ala)
c.2503A>G (p.Thr835Ala)
c.2482A>G (p.Thr828Ala)
n.2523-837T>C
n.9380A>G
5g.90716646A>TCA360397536ADGRV1c.9364A>T (p.Thr3122Ser)
c.265+40437A>T (n.265+40437A>T)
n.4823A>T
c.3171A>T
n.2508A>T
c.4093A>T
c.2061A>T
n.9377A>T
c.9361A>T (p.Thr3121Ser)
c.9283A>T (p.Thr3095Ser)
c.6667A>T (p.Thr2223Ser)
n.272-837T>A
c.9385A>T (p.Thr3129Ser)
c.9382A>T (p.Thr3128Ser)
c.9304A>T (p.Thr3102Ser)
c.9289A>T (p.Thr3097Ser)
c.2503A>T (p.Thr835Ser)
c.2482A>T (p.Thr828Ser)
n.2523-837T>A
n.9380A>T
5g.90716647C>ACA360397538ADGRV1c.9365C>A (p.Thr3122Lys)
c.265+40438C>A (n.265+40438C>A)
n.4824C>A
c.3172C>A
n.2509C>A
c.4094C>A
c.2062C>A
n.9378C>A
c.9362C>A (p.Thr3121Lys)
c.9284C>A (p.Thr3095Lys)
c.6668C>A (p.Thr2223Lys)
n.272-838G>T
c.9386C>A (p.Thr3129Lys)
c.9383C>A (p.Thr3128Lys)
c.9305C>A (p.Thr3102Lys)
c.9290C>A (p.Thr3097Lys)
c.2504C>A (p.Thr835Lys)
c.2483C>A (p.Thr828Lys)
n.2523-838G>T
n.9381C>A
5g.90716647C=CA1562870619ADGRV1c.9365C= (p.Thr3122=)
c.265+40438C= (n.265+40438C=)
n.4824C=
c.3172C=
n.2509C=
c.4094C=
c.2062C=
n.9378C=
c.9362C= (p.Thr3121=)
c.9284C= (p.Thr3095=)
c.6668C= (p.Thr2223=)
n.272-838G=
c.9386C= (p.Thr3129=)
c.9383C= (p.Thr3128=)
c.9305C= (p.Thr3102=)
c.9290C= (p.Thr3097=)
c.2504C= (p.Thr835=)
c.2483C= (p.Thr828=)
n.2523-838G=
n.9381C=
5g.90716647C>GCA360397539ADGRV1c.9365C>G (p.Thr3122Arg)
c.265+40438C>G (n.265+40438C>G)
n.4824C>G
c.3172C>G
n.2509C>G
c.4094C>G
c.2062C>G
n.9378C>G
c.9362C>G (p.Thr3121Arg)
c.9284C>G (p.Thr3095Arg)
c.6668C>G (p.Thr2223Arg)
n.272-838G>C
c.9386C>G (p.Thr3129Arg)
c.9383C>G (p.Thr3128Arg)
c.9305C>G (p.Thr3102Arg)
c.9290C>G (p.Thr3097Arg)
c.2504C>G (p.Thr835Arg)
c.2483C>G (p.Thr828Arg)
n.2523-838G>C
n.9381C>G
5g.90716647C>TCA360397540ADGRV1c.9365C>T (p.Thr3122Ile)
c.265+40438C>T (n.265+40438C>T)
n.4824C>T
c.3172C>T
n.2509C>T
c.4094C>T
c.2062C>T
n.9378C>T
c.9362C>T (p.Thr3121Ile)
c.9284C>T (p.Thr3095Ile)
c.6668C>T (p.Thr2223Ile)
n.272-838G>A
c.9386C>T (p.Thr3129Ile)
c.9383C>T (p.Thr3128Ile)
c.9305C>T (p.Thr3102Ile)
c.9290C>T (p.Thr3097Ile)
c.2504C>T (p.Thr835Ile)
c.2483C>T (p.Thr828Ile)
n.2523-838G>A
n.9381C>T
dbSNP gnomAD v3 gnomAD v4
5g.90716648A=CA1562870620ADGRV1c.9366A= (p.Thr3122=)
c.265+40439A= (n.265+40439A=)
n.4825A=
c.3173A=
n.2510A=
c.4095A=
c.2063A=
n.9379A=
c.9363A= (p.Thr3121=)
c.9285A= (p.Thr3095=)
c.6669A= (p.Thr2223=)
n.272-839T=
c.9387A= (p.Thr3129=)
c.9384A= (p.Thr3128=)
c.9306A= (p.Thr3102=)
c.9291A= (p.Thr3097=)
c.2505A= (p.Thr835=)
c.2484A= (p.Thr828=)
n.2523-839T=
n.9382A=
5g.90716648A>CCA445413785ADGRV1c.9366A>C (p.Thr3122=)
c.265+40439A>C (n.265+40439A>C)
n.4825A>C
c.3173A>C
n.2510A>C
c.4095A>C
c.2063A>C
n.9379A>C
c.9363A>C (p.Thr3121=)
c.9285A>C (p.Thr3095=)
c.6669A>C (p.Thr2223=)
n.272-839T>G
c.9387A>C (p.Thr3129=)
c.9384A>C (p.Thr3128=)
c.9306A>C (p.Thr3102=)
c.9291A>C (p.Thr3097=)
c.2505A>C (p.Thr835=)
c.2484A>C (p.Thr828=)
n.2523-839T>G
n.9382A>C
5g.90716648A>GCA202910ADGRV1c.9366A>G (p.Thr3122=)
c.265+40439A>G (n.265+40439A>G)
n.4825A>G
c.3173A>G
n.2510A>G
c.4095A>G
c.2063A>G
n.9379A>G
c.9363A>G (p.Thr3121=)
c.9285A>G (p.Thr3095=)
c.6669A>G (p.Thr2223=)
n.272-839T>C
c.9387A>G (p.Thr3129=)
c.9384A>G (p.Thr3128=)
c.9306A>G (p.Thr3102=)
c.9291A>G (p.Thr3097=)
c.2505A>G (p.Thr835=)
c.2484A>G (p.Thr828=)
n.2523-839T>C
n.9382A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90716648A>TCA445413788ADGRV1c.9366A>T (p.Thr3122=)
c.265+40439A>T (n.265+40439A>T)
n.4825A>T
c.3173A>T
n.2510A>T
c.4095A>T
c.2063A>T
n.9379A>T
c.9363A>T (p.Thr3121=)
c.9285A>T (p.Thr3095=)
c.6669A>T (p.Thr2223=)
n.272-839T>A
c.9387A>T (p.Thr3129=)
c.9384A>T (p.Thr3128=)
c.9306A>T (p.Thr3102=)
c.9291A>T (p.Thr3097=)
c.2505A>T (p.Thr835=)
c.2484A>T (p.Thr828=)
n.2523-839T>A
n.9382A>T
5g.90716649G>ACA360397545ADGRV1c.9367G>A (p.Glu3123Lys)
c.265+40440G>A (n.265+40440G>A)
n.4826G>A
c.3174G>A
n.2511G>A
c.4096G>A
c.2064G>A
n.9380G>A
c.9364G>A (p.Glu3122Lys)
c.9286G>A (p.Glu3096Lys)
c.6670G>A (p.Glu2224Lys)
n.272-840C>T
c.9388G>A (p.Glu3130Lys)
c.9385G>A (p.Glu3129Lys)
c.9307G>A (p.Glu3103Lys)
c.9292G>A (p.Glu3098Lys)
c.2506G>A (p.Glu836Lys)
c.2485G>A (p.Glu829Lys)
n.2523-840C>T
n.9383G>A
gnomAD v4
5g.90716649G>CCA360397546ADGRV1c.9367G>C (p.Glu3123Gln)
c.265+40440G>C (n.265+40440G>C)
n.4826G>C
c.3174G>C
n.2511G>C
c.4096G>C
c.2064G>C
n.9380G>C
c.9364G>C (p.Glu3122Gln)
c.9286G>C (p.Glu3096Gln)
c.6670G>C (p.Glu2224Gln)
n.272-840C>G
c.9388G>C (p.Glu3130Gln)
c.9385G>C (p.Glu3129Gln)
c.9307G>C (p.Glu3103Gln)
c.9292G>C (p.Glu3098Gln)
c.2506G>C (p.Glu836Gln)
c.2485G>C (p.Glu829Gln)
n.2523-840C>G
n.9383G>C
gnomAD v4
5g.90716649G>TCA360397543ADGRV1c.9367G>T (p.Glu3123Ter)
c.265+40440G>T (n.265+40440G>T)
n.4826G>T
c.3174G>T
n.2511G>T
c.4096G>T
c.2064G>T
n.9380G>T
c.9364G>T (p.Glu3122Ter)
c.9286G>T (p.Glu3096Ter)
c.6670G>T (p.Glu2224Ter)
n.272-840C>A
c.9388G>T (p.Glu3130Ter)
c.9385G>T (p.Glu3129Ter)
c.9307G>T (p.Glu3103Ter)
c.9292G>T (p.Glu3098Ter)
c.2506G>T (p.Glu836Ter)
c.2485G>T (p.Glu829Ter)
n.2523-840C>A
n.9383G>T
5g.90716650A>CCA360397551ADGRV1c.9368A>C (p.Glu3123Ala)
c.265+40441A>C (n.265+40441A>C)
n.4827A>C
c.3175A>C
n.2512A>C
c.4097A>C
c.2065A>C
n.9381A>C
c.9365A>C (p.Glu3122Ala)
c.9287A>C (p.Glu3096Ala)
c.6671A>C (p.Glu2224Ala)
n.272-841T>G
c.9389A>C (p.Glu3130Ala)
c.9386A>C (p.Glu3129Ala)
c.9308A>C (p.Glu3103Ala)
c.9293A>C (p.Glu3098Ala)
c.2507A>C (p.Glu836Ala)
c.2486A>C (p.Glu829Ala)
n.2523-841T>G
n.9384A>C
5g.90716650A>GCA360397548ADGRV1c.9368A>G (p.Glu3123Gly)
c.265+40441A>G (n.265+40441A>G)
n.4827A>G
c.3175A>G
n.2512A>G
c.4097A>G
c.2065A>G
n.9381A>G
c.9365A>G (p.Glu3122Gly)
c.9287A>G (p.Glu3096Gly)
c.6671A>G (p.Glu2224Gly)
n.272-841T>C
c.9389A>G (p.Glu3130Gly)
c.9386A>G (p.Glu3129Gly)
c.9308A>G (p.Glu3103Gly)
c.9293A>G (p.Glu3098Gly)
c.2507A>G (p.Glu836Gly)
c.2486A>G (p.Glu829Gly)
n.2523-841T>C
n.9384A>G
5g.90716650A>TCA360397549ADGRV1c.9368A>T (p.Glu3123Val)
c.265+40441A>T (n.265+40441A>T)
n.4827A>T
c.3175A>T
n.2512A>T
c.4097A>T
c.2065A>T
n.9381A>T
c.9365A>T (p.Glu3122Val)
c.9287A>T (p.Glu3096Val)
c.6671A>T (p.Glu2224Val)
n.272-841T>A
c.9389A>T (p.Glu3130Val)
c.9386A>T (p.Glu3129Val)
c.9308A>T (p.Glu3103Val)
c.9293A>T (p.Glu3098Val)
c.2507A>T (p.Glu836Val)
c.2486A>T (p.Glu829Val)
n.2523-841T>A
n.9384A>T
5g.90716651A>CCA360397553ADGRV1c.9369A>C (p.Glu3123Asp)
c.265+40442A>C (n.265+40442A>C)
n.4828A>C
c.3176A>C
n.2513A>C
c.4098A>C
c.2066A>C
n.9382A>C
c.9366A>C (p.Glu3122Asp)
c.9288A>C (p.Glu3096Asp)
c.6672A>C (p.Glu2224Asp)
n.272-842T>G
c.9390A>C (p.Glu3130Asp)
c.9387A>C (p.Glu3129Asp)
c.9309A>C (p.Glu3103Asp)
c.9294A>C (p.Glu3098Asp)
c.2508A>C (p.Glu836Asp)
c.2487A>C (p.Glu829Asp)
n.2523-842T>G
n.9385A>C
5g.90716651A>GCA445413799ADGRV1c.9369A>G (p.Glu3123=)
c.265+40442A>G (n.265+40442A>G)
n.4828A>G
c.3176A>G
n.2513A>G
c.4098A>G
c.2066A>G
n.9382A>G
c.9366A>G (p.Glu3122=)
c.9288A>G (p.Glu3096=)
c.6672A>G (p.Glu2224=)
n.272-842T>C
c.9390A>G (p.Glu3130=)
c.9387A>G (p.Glu3129=)
c.9309A>G (p.Glu3103=)
c.9294A>G (p.Glu3098=)
c.2508A>G (p.Glu836=)
c.2487A>G (p.Glu829=)
n.2523-842T>C
n.9385A>G
5g.90716651A>TCA360397554ADGRV1c.9369A>T (p.Glu3123Asp)
c.265+40442A>T (n.265+40442A>T)
n.4828A>T
c.3176A>T
n.2513A>T
c.4098A>T
c.2066A>T
n.9382A>T
c.9366A>T (p.Glu3122Asp)
c.9288A>T (p.Glu3096Asp)
c.6672A>T (p.Glu2224Asp)
n.272-842T>A
c.9390A>T (p.Glu3130Asp)
c.9387A>T (p.Glu3129Asp)
c.9309A>T (p.Glu3103Asp)
c.9294A>T (p.Glu3098Asp)
c.2508A>T (p.Glu836Asp)
c.2487A>T (p.Glu829Asp)
n.2523-842T>A
n.9385A>T
5g.90716652G>ACA360397556ADGRV1c.9370G>A (p.Val3124Met)
c.265+40443G>A (n.265+40443G>A)
n.4829G>A
c.3177G>A
n.2514G>A
c.4099G>A
c.2067G>A
n.9383G>A
c.9367G>A (p.Val3123Met)
c.9289G>A (p.Val3097Met)
c.6673G>A (p.Val2225Met)
n.272-843C>T
c.9391G>A (p.Val3131Met)
c.9388G>A (p.Val3130Met)
c.9310G>A (p.Val3104Met)
c.9295G>A (p.Val3099Met)
c.2509G>A (p.Val837Met)
c.2488G>A (p.Val830Met)
n.2523-843C>T
n.9386G>A
5g.90716652G>CCA360397558ADGRV1c.9370G>C (p.Val3124Leu)
c.265+40443G>C (n.265+40443G>C)
n.4829G>C
c.3177G>C
n.2514G>C
c.4099G>C
c.2067G>C
n.9383G>C
c.9367G>C (p.Val3123Leu)
c.9289G>C (p.Val3097Leu)
c.6673G>C (p.Val2225Leu)
n.272-843C>G
c.9391G>C (p.Val3131Leu)
c.9388G>C (p.Val3130Leu)
c.9310G>C (p.Val3104Leu)
c.9295G>C (p.Val3099Leu)
c.2509G>C (p.Val837Leu)
c.2488G>C (p.Val830Leu)
n.2523-843C>G
n.9386G>C
5g.90716652G>TCA360397559ADGRV1c.9370G>T (p.Val3124Leu)
c.265+40443G>T (n.265+40443G>T)
n.4829G>T
c.3177G>T
n.2514G>T
c.4099G>T
c.2067G>T
n.9383G>T
c.9367G>T (p.Val3123Leu)
c.9289G>T (p.Val3097Leu)
c.6673G>T (p.Val2225Leu)
n.272-843C>A
c.9391G>T (p.Val3131Leu)
c.9388G>T (p.Val3130Leu)
c.9310G>T (p.Val3104Leu)
c.9295G>T (p.Val3099Leu)
c.2509G>T (p.Val837Leu)
c.2488G>T (p.Val830Leu)
n.2523-843C>A
n.9386G>T
5g.90716653T>ACA360397561ADGRV1c.9371T>A (p.Val3124Glu)
c.265+40444T>A (n.265+40444T>A)
n.4830T>A
c.3178T>A
n.2515T>A
c.4100T>A
c.2068T>A
n.9384T>A
c.9368T>A (p.Val3123Glu)
c.9290T>A (p.Val3097Glu)
c.6674T>A (p.Val2225Glu)
n.272-844A>T
c.9392T>A (p.Val3131Glu)
c.9389T>A (p.Val3130Glu)
c.9311T>A (p.Val3104Glu)
c.9296T>A (p.Val3099Glu)
c.2510T>A (p.Val837Glu)
c.2489T>A (p.Val830Glu)
n.2523-844A>T
n.9387T>A
5g.90716653T>CCA360397562ADGRV1c.9371T>C (p.Val3124Ala)
c.265+40444T>C (n.265+40444T>C)
n.4830T>C
c.3178T>C
n.2515T>C
c.4100T>C
c.2068T>C
n.9384T>C
c.9368T>C (p.Val3123Ala)
c.9290T>C (p.Val3097Ala)
c.6674T>C (p.Val2225Ala)
n.272-844A>G
c.9392T>C (p.Val3131Ala)
c.9389T>C (p.Val3130Ala)
c.9311T>C (p.Val3104Ala)
c.9296T>C (p.Val3099Ala)
c.2510T>C (p.Val837Ala)
c.2489T>C (p.Val830Ala)
n.2523-844A>G
n.9387T>C
5g.90716653T>GCA360397564ADGRV1c.9371T>G (p.Val3124Gly)
c.265+40444T>G (n.265+40444T>G)
n.4830T>G
c.3178T>G
n.2515T>G
c.4100T>G
c.2068T>G
n.9384T>G
c.9368T>G (p.Val3123Gly)
c.9290T>G (p.Val3097Gly)
c.6674T>G (p.Val2225Gly)
n.272-844A>C
c.9392T>G (p.Val3131Gly)
c.9389T>G (p.Val3130Gly)
c.9311T>G (p.Val3104Gly)
c.9296T>G (p.Val3099Gly)
c.2510T>G (p.Val837Gly)
c.2489T>G (p.Val830Gly)
n.2523-844A>C
n.9387T>G
5g.90716654G>ACA445413807ADGRV1c.9372G>A (p.Val3124=)
c.265+40445G>A (n.265+40445G>A)
n.4831G>A
c.3179G>A
n.2516G>A
c.4101G>A
c.2069G>A
n.9385G>A
c.9369G>A (p.Val3123=)
c.9291G>A (p.Val3097=)
c.6675G>A (p.Val2225=)
n.272-845C>T
c.9393G>A (p.Val3131=)
c.9390G>A (p.Val3130=)
c.9312G>A (p.Val3104=)
c.9297G>A (p.Val3099=)
c.2511G>A (p.Val837=)
c.2490G>A (p.Val830=)
n.2523-845C>T
n.9388G>A
COSMIC
5g.90716654G>CCA445413809ADGRV1c.9372G>C (p.Val3124=)
c.265+40445G>C (n.265+40445G>C)
n.4831G>C
c.3179G>C
n.2516G>C
c.4101G>C
c.2069G>C
n.9385G>C
c.9369G>C (p.Val3123=)
c.9291G>C (p.Val3097=)
c.6675G>C (p.Val2225=)
n.272-845C>G
c.9393G>C (p.Val3131=)
c.9390G>C (p.Val3130=)
c.9312G>C (p.Val3104=)
c.9297G>C (p.Val3099=)
c.2511G>C (p.Val837=)
c.2490G>C (p.Val830=)
n.2523-845C>G
n.9388G>C
5g.90716654G>TCA445413810ADGRV1c.9372G>T (p.Val3124=)
c.265+40445G>T (n.265+40445G>T)
n.4831G>T
c.3179G>T
n.2516G>T
c.4101G>T
c.2069G>T
n.9385G>T
c.9369G>T (p.Val3123=)
c.9291G>T (p.Val3097=)
c.6675G>T (p.Val2225=)
n.272-845C>A
c.9393G>T (p.Val3131=)
c.9390G>T (p.Val3130=)
c.9312G>T (p.Val3104=)
c.9297G>T (p.Val3099=)
c.2511G>T (p.Val837=)
c.2490G>T (p.Val830=)
n.2523-845C>A
n.9388G>T

Number of alleles fetched