Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.90716554C>A | CA360397216 | ADGRV1 | c.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 |
5 | g.90716554C= | CA1562870590 | ADGRV1 | c.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= | |
5 | g.90716554C>G | CA360397218 | ADGRV1 | c.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 | |
5 | g.90716554C>T | CA360397220 | ADGRV1 | c.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 | |
5 | g.90716555T>A | CA445413213 | ADGRV1 | c.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 | |
5 | g.90716555T>C | CA445413214 | ADGRV1 | c.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 |
5 | g.90716555T>G | CA445413216 | ADGRV1 | c.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 | |
5 | g.90716556C>A | CA360397221 | ADGRV1 | c.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 | |
5 | g.90716556C= | CA1562870591 | ADGRV1 | c.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= | |
5 | g.90716556C>G | CA360397223 | ADGRV1 | c.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 |
5 | g.90716556C>T | CA360397224 | ADGRV1 | c.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 |
5 | g.90716557T>A | CA360397227 | ADGRV1 | c.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 | |
5 | g.90716557T>C | CA360397228 | ADGRV1 | c.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 | |
5 | g.90716557T>G | CA360397225 | ADGRV1 | c.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 | |
5 | g.90716558C>A | CA445413223 | ADGRV1 | c.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 | |
5 | g.90716558C= | CA1562870592 | ADGRV1 | c.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= | |
5 | g.90716558C>G | CA445413225 | ADGRV1 | c.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 |
5 | g.90716558C>T | CA445413226 | ADGRV1 | c.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 | |
5 | g.90716559T>A | CA360397230 | ADGRV1 | c.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 | |
5 | g.90716559T>C | CA360397231 | ADGRV1 | c.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 | |
5 | g.90716559T>G | CA360397233 | ADGRV1 | c.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 | |
5 | g.90716560A= | CA1562870593 | ADGRV1 | c.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= | |
5 | g.90716560A>C | CA360397235 | ADGRV1 | c.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 | |
5 | g.90716560A>G | CA360397236 | ADGRV1 | c.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 |
5 | g.90716560A>T | CA360397238 | ADGRV1 | c.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 | |
5 | g.90716561C>A | CA360397242 | ADGRV1 | c.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 |
5 | g.90716561C= | CA1562870594 | ADGRV1 | c.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= | |
5 | g.90716561C>G | CA360397240 | ADGRV1 | c.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 | |
5 | g.90716561C>T | CA3340476 | ADGRV1 | c.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 |
5 | g.90716562G>A | CA138265 | ADGRV1 | c.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 |
5 | g.90716562G>C | CA360397244 | ADGRV1 | c.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 | |
5 | g.90716562G= | CA1562870595 | ADGRV1 | c.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= | |
5 | g.90716562G>T | CA360397245 | ADGRV1 | c.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 | |
5 | g.90716563T>A | CA360397247 | ADGRV1 | c.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 | |
5 | g.90716563T>C | CA360397248 | ADGRV1 | c.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 |
5 | g.90716563T>G | CA360397249 | ADGRV1 | c.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 | |
5 | g.90716564C>A | CA445413238 | ADGRV1 | c.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 | |
5 | g.90716564C>G | CA445413240 | ADGRV1 | c.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 | |
5 | g.90716564C>T | CA445413242 | ADGRV1 | c.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 | |
5 | g.90716565C>A | CA360397253 | ADGRV1 | c.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 | |
5 | g.90716565C>G | CA360397252 | ADGRV1 | c.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 | |
5 | g.90716565C>T | CA360397251 | ADGRV1 | c.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 | |
5 | g.90716566A>C | CA360397258 | ADGRV1 | c.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 |
5 | g.90716566A>G | CA360397256 | ADGRV1 | c.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 | |
5 | g.90716566A>T | CA360397259 | ADGRV1 | c.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 | |
5 | g.90716567G>A | CA445413248 | ADGRV1 | c.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 | |
5 | g.90716567G>C | CA360397260 | ADGRV1 | c.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 | |
5 | g.90716567G>T | CA360397261 | ADGRV1 | c.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 | |
5 | g.90716568G>A | CA360397263 | ADGRV1 | c.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 | |
5 | g.90716568G>C | CA360397264 | ADGRV1 | c.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 |
5 | g.90716568G= | CA1562870596 | ADGRV1 | c.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= | |
5 | g.90716568G>T | CA360397265 | ADGRV1 | c.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 |
5 | g.90716569A= | CA1562870597 | ADGRV1 | c.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= | |
5 | g.90716569A>C | CA3340477 | ADGRV1 | c.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 |
5 | g.90716569A>G | CA360397267 | ADGRV1 | c.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 | |
5 | g.90716569A>T | CA360397269 | ADGRV1 | c.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 | |
5 | g.90716570G>A | CA445413252 | ADGRV1 | c.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 | |
5 | g.90716570G>C | CA360397271 | ADGRV1 | c.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 |
5 | g.90716570G>T | CA360397272 | ADGRV1 | c.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 | |
5 | g.90716571A>C | CA360397273 | ADGRV1 | c.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 | |
5 | g.90716571A>G | CA360397275 | ADGRV1 | c.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 |
5 | g.90716571A>T | CA360397277 | ADGRV1 | c.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 | |
5 | g.90716572G>A | CA360397281 | ADGRV1 | c.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 |
5 | g.90716572G>C | CA360397280 | ADGRV1 | c.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 |
5 | g.90716572G>T | CA360397279 | ADGRV1 | c.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 | |
5 | g.90716573T>A | CA360397282 | ADGRV1 | c.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 |
5 | g.90716573T>C | CA445413260 | ADGRV1 | c.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 | |
5 | g.90716573T>G | CA184901 | ADGRV1 | c.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 |
5 | g.90716573T= | CA1562870598 | ADGRV1 | c.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= | |
5 | g.90716574G>A | CA360397285 | ADGRV1 | c.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 | |
5 | g.90716574G>C | CA360397286 | ADGRV1 | c.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 | |
5 | g.90716574G>T | CA360397288 | ADGRV1 | c.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 | |
5 | g.90716575T>A | CA360397290 | ADGRV1 | c.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 | |
5 | g.90716575T>C | CA360397292 | ADGRV1 | c.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 | |
5 | g.90716575T>G | CA360397293 | ADGRV1 | c.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 | |
5 | g.90716576T>A | CA445413268 | ADGRV1 | c.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 | |
5 | g.90716576T>C | CA445413269 | ADGRV1 | c.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 | |
5 | g.90716576T>G | CA445413271 | ADGRV1 | c.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 | |
5 | g.90716577G>A | CA360397295 | ADGRV1 | c.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 |
5 | g.90716577G>C | CA360397296 | ADGRV1 | c.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 | |
5 | g.90716577G>T | CA360397298 | ADGRV1 | c.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 | |
5 | g.90716578C>A | CA360397299 | ADGRV1 | c.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 | |
5 | g.90716578C>G | CA360397300 | ADGRV1 | c.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 | |
5 | g.90716578C>T | CA360397301 | ADGRV1 | c.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 |
5 | g.90716579A>C | CA445413276 | ADGRV1 | c.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 | |
5 | g.90716579A>G | CA445413280 | ADGRV1 | c.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 | |
5 | g.90716579A>T | CA445413282 | ADGRV1 | c.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 | |
5 | g.90716580G>A | CA360397304 | ADGRV1 | c.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 |
5 | g.90716580G>C | CA360397306 | ADGRV1 | c.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 | |
5 | g.90716580G>T | CA360397303 | ADGRV1 | c.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 | |
5 | g.90716581T>A | CA360397308 | ADGRV1 | c.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 | |
5 | g.90716581T>C | CA360397309 | ADGRV1 | c.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 |
5 | g.90716581T>G | CA360397310 | ADGRV1 | c.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 | |
5 | g.90716582A>C | CA445413288 | ADGRV1 | c.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 | |
5 | g.90716582A>G | CA445413289 | ADGRV1 | c.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 |
5 | g.90716582A>T | CA445413291 | ADGRV1 | c.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 | |
5 | g.90716583T>A | CA360397312 | ADGRV1 | c.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 | |
5 | g.90716583T>C | CA445413293 | ADGRV1 | c.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 |
5 | g.90716583T>G | CA360397314 | ADGRV1 | c.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 | |
5 | g.90716584T>A | CA360397316 | ADGRV1 | c.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 | |
5 | g.90716584T>C | CA122805711 | ADGRV1 | c.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 |
5 | g.90716584T>G | CA360397318 | ADGRV1 | c.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 | |
5 | g.90716584T= | CA1562870599 | ADGRV1 | c.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= | |
5 | g.90716585G>A | CA445413296 | ADGRV1 | c.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 |
5 | g.90716585G>C | CA360397320 | ADGRV1 | c.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 | |
5 | g.90716585G>T | CA360397322 | ADGRV1 | c.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 | |
5 | g.90716586T>A | CA360397323 | ADGRV1 | c.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 | |
5 | g.90716586T>C | CA360397324 | ADGRV1 | c.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 |
5 | g.90716586T>G | CA360397325 | ADGRV1 | c.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 | |
5 | g.90716586T= | CA1562870600 | ADGRV1 | c.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= | |
5 | g.90716586_90716587insCTTA | CA560900615 | ADGRV1 | c.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 |
5 | g.90716587A= | CA1562870601 | ADGRV1 | c.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= | |
5 | g.90716587A>C | CA360397328 | ADGRV1 | c.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 | |
5 | g.90716587A>G | CA360397331 | ADGRV1 | c.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 |
5 | g.90716587A>T | CA360397330 | ADGRV1 | c.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 | |
5 | g.90716588C>A | CA360397332 | ADGRV1 | c.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 | |
5 | g.90716588C= | CA1562870602 | ADGRV1 | c.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= | |
5 | g.90716588C>G | CA360397334 | ADGRV1 | c.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 | |
5 | g.90716588C>T | CA3340478 | ADGRV1 | c.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 |
5 | g.90716589A= | CA1562870603 | ADGRV1 | c.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= | |
5 | g.90716589A>C | CA360397337 | ADGRV1 | c.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 | |
5 | g.90716589A>G | CA3340479 | ADGRV1 | c.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 |
5 | g.90716589A>T | CA360397339 | ADGRV1 | c.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 | |
5 | g.90716590T>A | CA360397341 | ADGRV1 | c.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 | |
5 | g.90716590T>C | CA360397342 | ADGRV1 | c.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 | |
5 | g.90716590T>G | CA360397343 | ADGRV1 | c.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 | |
5 | g.90716591T>A | CA445413310 | ADGRV1 | c.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 | |
5 | g.90716591T>C | CA445413311 | ADGRV1 | c.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 | |
5 | g.90716591T>G | CA360397346 | ADGRV1 | c.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 | |
5 | g.90716592G>A | CA360397350 | ADGRV1 | c.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 | |
5 | g.90716592G>C | CA360397349 | ADGRV1 | c.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 | |
5 | g.90716592G>T | CA360397347 | ADGRV1 | c.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 |
5 | g.90716593T>A | CA360397352 | ADGRV1 | c.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 | |
5 | g.90716593T>C | CA360397356 | ADGRV1 | c.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 | |
5 | g.90716593T>G | CA360397354 | ADGRV1 | c.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 | |
5 | g.90716594T>A | CA445413612 | ADGRV1 | c.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 | |
5 | g.90716594T>C | CA445413610 | ADGRV1 | c.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 | |
5 | g.90716594T>G | CA445413607 | ADGRV1 | c.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 | |
5 | g.90716595C>A | CA445413616 | ADGRV1 | c.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 | |
5 | g.90716595C= | CA1562870604 | ADGRV1 | c.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= | |
5 | g.90716595C>G | CA360397357 | ADGRV1 | c.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 | |
5 | g.90716595C>T | CA3340480 | ADGRV1 | c.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 |
5 | g.90716596G>A | CA3340481 | ADGRV1 | c.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 |
5 | g.90716596G>C | CA360397361 | ADGRV1 | c.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 | |
5 | g.90716596G= | CA1562870605 | ADGRV1 | c.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= | |
5 | g.90716596G>T | CA360397362 | ADGRV1 | c.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 | |
5 | g.90716598dup | CA2674547019 | ADGRV1 | c.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 |
5 | g.90716597G>A | CA445413620 | ADGRV1 | c.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 | |
5 | g.90716597G>C | CA445413619 | ADGRV1 | c.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 | |
5 | g.90716597G>T | CA445413617 | ADGRV1 | c.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 | |
5 | g.90716598G>A | CA360397364 | ADGRV1 | c.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 | |
5 | g.90716598G>C | CA360397365 | ADGRV1 | c.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 | |
5 | g.90716598G>T | CA360397366 | ADGRV1 | c.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 | |
5 | g.90716599A= | CA1562870606 | ADGRV1 | c.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= | |
5 | g.90716599A>C | CA360397368 | ADGRV1 | c.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 |
5 | g.90716599A>G | CA360397369 | ADGRV1 | c.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 | |
5 | g.90716599A>T | CA360397371 | ADGRV1 | c.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 | |
5 | g.90716600A>C | CA360397375 | ADGRV1 | c.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 | |
5 | g.90716600A>G | CA445413627 | ADGRV1 | c.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 | |
5 | g.90716600A>T | CA360397373 | ADGRV1 | c.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 | |
5 | g.90716601C>A | CA360397376 | ADGRV1 | c.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 | |
5 | g.90716601C>G | CA360397377 | ADGRV1 | c.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 |
5 | g.90716601C>T | CA360397379 | ADGRV1 | c.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 | |
5 | g.90716602C>A | CA360397381 | ADGRV1 | c.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 | |
5 | g.90716602C>G | CA360397382 | ADGRV1 | c.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 |
5 | g.90716602C>T | CA360397384 | ADGRV1 | c.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 | |
5 | g.90716603T>A | CA445413639 | ADGRV1 | c.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 | |
5 | g.90716603T>C | CA445413642 | ADGRV1 | c.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 |
5 | g.90716603T>G | CA445413643 | ADGRV1 | c.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 |
5 | g.90716603T= | CA1562870607 | ADGRV1 | c.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= | |
5 | g.90716604G>A | CA360397386 | ADGRV1 | c.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 |
5 | g.90716604G>C | CA360397388 | ADGRV1 | c.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 | |
5 | g.90716604G>T | CA360397389 | ADGRV1 | c.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 | |
5 | g.90716605C>A | CA360397391 | ADGRV1 | c.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 | |
5 | g.90716605C>G | CA360397393 | ADGRV1 | c.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 | |
5 | g.90716605C>T | CA360397395 | ADGRV1 | c.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 | |
5 | g.90716606A= | CA1562870608 | ADGRV1 | c.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= | |
5 | g.90716606A>C | CA445413650 | ADGRV1 | c.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 |
5 | g.90716606A>G | CA445413651 | ADGRV1 | c.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 |
5 | g.90716606A>T | CA445413653 | ADGRV1 | c.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 | |
5 | g.90716607C>A | CA360397398 | ADGRV1 | c.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 | |
5 | g.90716607C>G | CA360397400 | ADGRV1 | c.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 |
5 | g.90716607C>T | CA360397396 | ADGRV1 | c.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 |
5 | g.90716608A>C | CA360397401 | ADGRV1 | c.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 | |
5 | g.90716608A>G | CA360397402 | ADGRV1 | c.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 | |
5 | g.90716608A>T | CA360397404 | ADGRV1 | c.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 | |
5 | g.90716609A>C | CA360397406 | ADGRV1 | c.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 | |
5 | g.90716609A>G | CA445413663 | ADGRV1 | c.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 |
5 | g.90716609A>T | CA360397408 | ADGRV1 | c.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 | |
5 | g.90716610G>A | CA360397409 | ADGRV1 | c.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 |
5 | g.90716610G>C | CA360397410 | ADGRV1 | c.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 | |
5 | g.90716610G= | CA1562870609 | ADGRV1 | c.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= | |
5 | g.90716610G>T | CA360397411 | ADGRV1 | c.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 | |
5 | g.90716611G>A | CA10606765 | ADGRV1 | c.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 |
5 | g.90716611G>C | CA360397413 | ADGRV1 | c.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 |
5 | g.90716611G= | CA1562870610 | ADGRV1 | c.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= | |
5 | g.90716611G>T | CA360397414 | ADGRV1 | c.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 | |
5 | g.90716612A>C | CA445413670 | ADGRV1 | c.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 | |
5 | g.90716612A>G | CA445413673 | ADGRV1 | c.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 |
5 | g.90716612A>T | CA445413675 | ADGRV1 | c.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 | |
5 | g.90716613T>A | CA360397416 | ADGRV1 | c.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 | |
5 | g.90716613T>C | CA445413678 | ADGRV1 | c.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 | |
5 | g.90716613T>G | CA360397417 | ADGRV1 | c.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 | |
5 | g.90716614T>A | CA360397422 | ADGRV1 | c.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 | |
5 | g.90716614T>C | CA360397421 | ADGRV1 | c.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 |
5 | g.90716614T>G | CA360397420 | ADGRV1 | c.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 | |
5 | g.90716614T= | CA1562870611 | ADGRV1 | c.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= | |
5 | g.90716615G>A | CA445413687 | ADGRV1 | c.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 |
5 | g.90716615G>C | CA3340482 | ADGRV1 | c.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 |
5 | g.90716615G= | CA1562870612 | ADGRV1 | c.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= | |
5 | g.90716615G>T | CA360397424 | ADGRV1 | c.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 | |
5 | g.90716616T>A | CA360397426 | ADGRV1 | c.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 | |
5 | g.90716616T>C | CA360397428 | ADGRV1 | c.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 |
5 | g.90716616T>G | CA360397430 | ADGRV1 | c.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 | |
5 | g.90716617T>A | CA360397431 | ADGRV1 | c.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 | |
5 | g.90716617T>C | CA360397433 | ADGRV1 | c.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 |
5 | g.90716617T>G | CA360397434 | ADGRV1 | c.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 | |
5 | g.90716618T>A | CA360397436 | ADGRV1 | c.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 | |
5 | g.90716618T>C | CA445413696 | ADGRV1 | c.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 | |
5 | g.90716618T>G | CA360397438 | ADGRV1 | c.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 | |
5 | g.90716619G>A | CA360397439 | ADGRV1 | c.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 | |
5 | g.90716619G>C | CA360397440 | ADGRV1 | c.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 | |
5 | g.90716619G>T | CA360397442 | ADGRV1 | c.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 | |
5 | g.90716620G>A | CA360397446 | ADGRV1 | c.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 |
5 | g.90716620G>C | CA360397447 | ADGRV1 | c.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 | |
5 | g.90716620G>T | CA360397444 | ADGRV1 | c.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 |
5 | g.90716621A>C | CA445413705 | ADGRV1 | c.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 | |
5 | g.90716621A>G | CA445413703 | ADGRV1 | c.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 | |
5 | g.90716621A>T | CA445413702 | ADGRV1 | c.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 | |
5 | g.90716622A>C | CA360397449 | ADGRV1 | c.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 |
5 | g.90716622A>G | CA360397452 | ADGRV1 | c.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 |
5 | g.90716622A>T | CA360397450 | ADGRV1 | c.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 | |
5 | g.90716623C>A | CA360397453 | ADGRV1 | c.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 | |
5 | g.90716623C>G | CA360397457 | ADGRV1 | c.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 | |
5 | g.90716623C>T | CA360397455 | ADGRV1 | c.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 | |
5 | g.90716624A>C | CA445413714 | ADGRV1 | c.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 | |
5 | g.90716624A>G | CA445413716 | ADGRV1 | c.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 | |
5 | g.90716624A>T | CA445413718 | ADGRV1 | c.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 | |
5 | g.90716625G>A | CA360397458 | ADGRV1 | c.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 |
5 | g.90716625G>C | CA360397460 | ADGRV1 | c.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 | |
5 | g.90716625G>T | CA360397461 | ADGRV1 | c.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 | |
5 | g.90716626T>A | CA360397463 | ADGRV1 | c.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 | |
5 | g.90716626T>C | CA360397465 | ADGRV1 | c.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 | |
5 | g.90716626T>G | CA360397466 | ADGRV1 | c.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 | |
5 | g.90716627G>A | CA445413727 | ADGRV1 | c.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 |
5 | g.90716627G>C | CA445413731 | ADGRV1 | c.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 | |
5 | g.90716627G>T | CA445413729 | ADGRV1 | c.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 | |
5 | g.90716628A= | CA1562870613 | ADGRV1 | c.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= | |
5 | g.90716628A>C | CA360397468 | ADGRV1 | c.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 | |
5 | g.90716628A>G | CA360397469 | ADGRV1 | c.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 |
5 | g.90716628A>T | CA360397471 | ADGRV1 | c.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 |
5 | g.90716629C>A | CA360397473 | ADGRV1 | c.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 | |
5 | g.90716629C>G | CA360397474 | ADGRV1 | c.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 | |
5 | g.90716629C>T | CA360397476 | ADGRV1 | c.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 | |
5 | g.90716636_90716640del | CA2674547020 | ADGRV1 | c.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 |
5 | g.90716630A= | CA1562870614 | ADGRV1 | c.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= | |
5 | g.90716630A>C | CA445413734 | ADGRV1 | c.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 | |
5 | g.90716630A>G | CA3340483 | ADGRV1 | c.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 |
5 | g.90716630A>T | CA445413736 | ADGRV1 | c.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 | |
5 | g.90716631G>A | CA360397482 | ADGRV1 | c.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 |
5 | g.90716631G>C | CA360397479 | ADGRV1 | c.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 |
5 | g.90716631G= | CA1562870615 | ADGRV1 | c.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= | |
5 | g.90716631G>T | CA360397480 | ADGRV1 | c.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 | |
5 | g.90716632T>A | CA360397484 | ADGRV1 | c.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 | |
5 | g.90716632T>C | CA360397485 | ADGRV1 | c.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 |
5 | g.90716632T>G | CA360397486 | ADGRV1 | c.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 |
5 | g.90716632T= | CA1562870616 | ADGRV1 | c.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= | |
5 | g.90716633T>A | CA445413743 | ADGRV1 | c.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 | |
5 | g.90716633T>C | CA445413746 | ADGRV1 | c.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 | |
5 | g.90716633T>G | CA445413744 | ADGRV1 | c.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 | |
5 | g.90716634C>A | CA360397488 | ADGRV1 | c.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 | |
5 | g.90716634C>G | CA360397490 | ADGRV1 | c.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 |
5 | g.90716634C>T | CA360397491 | ADGRV1 | c.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 |
5 | g.90716635A>C | CA360397493 | ADGRV1 | c.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 | |
5 | g.90716635A>G | CA360397494 | ADGRV1 | c.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 | |
5 | g.90716635A>T | CA360397496 | ADGRV1 | c.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 | |
5 | g.90716636G>A | CA445413751 | ADGRV1 | c.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 | |
5 | g.90716636G>C | CA360397497 | ADGRV1 | c.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 | |
5 | g.90716636G>T | CA360397499 | ADGRV1 | c.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 | |
5 | g.90716637T>A | CA360397501 | ADGRV1 | c.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 | |
5 | g.90716637T>C | CA360397504 | ADGRV1 | c.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 | |
5 | g.90716637T>G | CA360397502 | ADGRV1 | c.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 | |
5 | g.90716638T>A | CA360397506 | ADGRV1 | c.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 | |
5 | g.90716638T>C | CA360397507 | ADGRV1 | c.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 | |
5 | g.90716638T>G | CA360397508 | ADGRV1 | c.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 | |
5 | g.90716639C>A | CA360397510 | ADGRV1 | c.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 | |
5 | g.90716639C>G | CA360397512 | ADGRV1 | c.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 | |
5 | g.90716639C>T | CA445413760 | ADGRV1 | c.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 |
5 | g.90716640A>C | CA360397514 | ADGRV1 | c.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 | |
5 | g.90716640A>G | CA360397515 | ADGRV1 | c.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 | |
5 | g.90716640A>T | CA360397517 | ADGRV1 | c.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 | |
5 | g.90716641T>A | CA360397519 | ADGRV1 | c.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 | |
5 | g.90716641T>C | CA360397520 | ADGRV1 | c.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 |
5 | g.90716641T>G | CA360397521 | ADGRV1 | c.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 | |
5 | g.90716641T= | CA1562870617 | ADGRV1 | c.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= | |
5 | g.90716642T>A | CA445413773 | ADGRV1 | c.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 | |
5 | g.90716642T>C | CA445413769 | ADGRV1 | c.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 | |
5 | g.90716642T>G | CA360397522 | ADGRV1 | c.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 | |
5 | g.90716643G>A | CA360397523 | ADGRV1 | c.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 |
5 | g.90716643G>C | CA360397527 | ADGRV1 | c.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 | |
5 | g.90716643G= | CA1562870618 | ADGRV1 | c.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= | |
5 | g.90716643G>T | CA360397525 | ADGRV1 | c.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 |
5 | g.90716647_90716655del | CA2767420173 | ADGRV1 | c.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 | |
5 | g.90716644T>A | CA360397529 | ADGRV1 | c.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 | |
5 | g.90716644T>C | CA360397530 | ADGRV1 | c.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 |
5 | g.90716644T>G | CA360397531 | ADGRV1 | c.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 | |
5 | g.90716645G>A | CA445413775 | ADGRV1 | c.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 | |
5 | g.90716645G>C | CA445413777 | ADGRV1 | c.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 | |
5 | g.90716645G>T | CA445413778 | ADGRV1 | c.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 | |
5 | g.90716646A>C | CA360397533 | ADGRV1 | c.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 | |
5 | g.90716646A>G | CA360397535 | ADGRV1 | c.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 | |
5 | g.90716646A>T | CA360397536 | ADGRV1 | c.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 | |
5 | g.90716647C>A | CA360397538 | ADGRV1 | c.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 | |
5 | g.90716647C= | CA1562870619 | ADGRV1 | c.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= | |
5 | g.90716647C>G | CA360397539 | ADGRV1 | c.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 | |
5 | g.90716647C>T | CA360397540 | ADGRV1 | c.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 |
5 | g.90716648A= | CA1562870620 | ADGRV1 | c.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= | |
5 | g.90716648A>C | CA445413785 | ADGRV1 | c.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 | |
5 | g.90716648A>G | CA202910 | ADGRV1 | c.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 |
5 | g.90716648A>T | CA445413788 | ADGRV1 | c.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 | |
5 | g.90716649G>A | CA360397545 | ADGRV1 | c.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 |
5 | g.90716649G>C | CA360397546 | ADGRV1 | c.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 |
5 | g.90716649G>T | CA360397543 | ADGRV1 | c.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 | |
5 | g.90716650A>C | CA360397551 | ADGRV1 | c.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 | |
5 | g.90716650A>G | CA360397548 | ADGRV1 | c.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 | |
5 | g.90716650A>T | CA360397549 | ADGRV1 | c.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 | |
5 | g.90716651A>C | CA360397553 | ADGRV1 | c.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 | |
5 | g.90716651A>G | CA445413799 | ADGRV1 | c.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 | |
5 | g.90716651A>T | CA360397554 | ADGRV1 | c.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 | |
5 | g.90716652G>A | CA360397556 | ADGRV1 | c.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 | |
5 | g.90716652G>C | CA360397558 | ADGRV1 | c.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 | |
5 | g.90716652G>T | CA360397559 | ADGRV1 | c.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 | |
5 | g.90716653T>A | CA360397561 | ADGRV1 | c.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 | |
5 | g.90716653T>C | CA360397562 | ADGRV1 | c.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 | |
5 | g.90716653T>G | CA360397564 | ADGRV1 | c.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 | |
5 | g.90716654G>A | CA445413807 | ADGRV1 | c.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 |
5 | g.90716654G>C | CA445413809 | ADGRV1 | c.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 | |
5 | g.90716654G>T | CA445413810 | ADGRV1 | c.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 |