UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |