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.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.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 | |
| 5 | g.90716655A>C | CA360397565 | ADGRV1 | c.9373A>C (p.Asn3125His) c.265+40446A>C (n.265+40446A>C) n.4832A>C c.3180A>C n.2517A>C c.4102A>C c.2070A>C n.9386A>C c.9370A>C (p.Asn3124His) c.9292A>C (p.Asn3098His) c.6676A>C (p.Asn2226His) n.272-846T>G c.9394A>C (p.Asn3132His) c.9391A>C (p.Asn3131His) c.9313A>C (p.Asn3105His) c.9298A>C (p.Asn3100His) c.2512A>C (p.Asn838His) c.2491A>C (p.Asn831His) n.2523-846T>G n.9389A>C | |
| 5 | g.90716655A>G | CA360397567 | ADGRV1 | c.9373A>G (p.Asn3125Asp) c.265+40446A>G (n.265+40446A>G) n.4832A>G c.3180A>G n.2517A>G c.4102A>G c.2070A>G n.9386A>G c.9370A>G (p.Asn3124Asp) c.9292A>G (p.Asn3098Asp) c.6676A>G (p.Asn2226Asp) n.272-846T>C c.9394A>G (p.Asn3132Asp) c.9391A>G (p.Asn3131Asp) c.9313A>G (p.Asn3105Asp) c.9298A>G (p.Asn3100Asp) c.2512A>G (p.Asn838Asp) c.2491A>G (p.Asn831Asp) n.2523-846T>C n.9389A>G | |
| 5 | g.90716655A>T | CA360397568 | ADGRV1 | c.9373A>T (p.Asn3125Tyr) c.265+40446A>T (n.265+40446A>T) n.4832A>T c.3180A>T n.2517A>T c.4102A>T c.2070A>T n.9386A>T c.9370A>T (p.Asn3124Tyr) c.9292A>T (p.Asn3098Tyr) c.6676A>T (p.Asn2226Tyr) n.272-846T>A c.9394A>T (p.Asn3132Tyr) c.9391A>T (p.Asn3131Tyr) c.9313A>T (p.Asn3105Tyr) c.9298A>T (p.Asn3100Tyr) c.2512A>T (p.Asn838Tyr) c.2491A>T (p.Asn831Tyr) n.2523-846T>A n.9389A>T | gnomAD v4 |
| 5 | g.90716656A>C | CA360397574 | ADGRV1 | c.9374A>C (p.Asn3125Thr) c.265+40447A>C (n.265+40447A>C) n.4833A>C c.3181A>C n.2518A>C c.4103A>C c.2071A>C n.9387A>C c.9371A>C (p.Asn3124Thr) c.9293A>C (p.Asn3098Thr) c.6677A>C (p.Asn2226Thr) n.272-847T>G c.9395A>C (p.Asn3132Thr) c.9392A>C (p.Asn3131Thr) c.9314A>C (p.Asn3105Thr) c.9299A>C (p.Asn3100Thr) c.2513A>C (p.Asn838Thr) c.2492A>C (p.Asn831Thr) n.2523-847T>G n.9390A>C | |
| 5 | g.90716656A>G | CA360397570 | ADGRV1 | c.9374A>G (p.Asn3125Ser) c.265+40447A>G (n.265+40447A>G) n.4833A>G c.3181A>G n.2518A>G c.4103A>G c.2071A>G n.9387A>G c.9371A>G (p.Asn3124Ser) c.9293A>G (p.Asn3098Ser) c.6677A>G (p.Asn2226Ser) n.272-847T>C c.9395A>G (p.Asn3132Ser) c.9392A>G (p.Asn3131Ser) c.9314A>G (p.Asn3105Ser) c.9299A>G (p.Asn3100Ser) c.2513A>G (p.Asn838Ser) c.2492A>G (p.Asn831Ser) n.2523-847T>C n.9390A>G | |
| 5 | g.90716656A>T | CA360397572 | ADGRV1 | c.9374A>T (p.Asn3125Ile) c.265+40447A>T (n.265+40447A>T) n.4833A>T c.3181A>T n.2518A>T c.4103A>T c.2071A>T n.9387A>T c.9371A>T (p.Asn3124Ile) c.9293A>T (p.Asn3098Ile) c.6677A>T (p.Asn2226Ile) n.272-847T>A c.9395A>T (p.Asn3132Ile) c.9392A>T (p.Asn3131Ile) c.9314A>T (p.Asn3105Ile) c.9299A>T (p.Asn3100Ile) c.2513A>T (p.Asn838Ile) c.2492A>T (p.Asn831Ile) n.2523-847T>A n.9390A>T | gnomAD v4 |
| 5 | g.90716657T>A | CA360397576 | ADGRV1 | c.9375T>A (p.Asn3125Lys) c.265+40448T>A (n.265+40448T>A) n.4834T>A c.3182T>A n.2519T>A c.4104T>A c.2072T>A n.9388T>A c.9372T>A (p.Asn3124Lys) c.9294T>A (p.Asn3098Lys) c.6678T>A (p.Asn2226Lys) n.272-848A>T c.9396T>A (p.Asn3132Lys) c.9393T>A (p.Asn3131Lys) c.9315T>A (p.Asn3105Lys) c.9300T>A (p.Asn3100Lys) c.2514T>A (p.Asn838Lys) c.2493T>A (p.Asn831Lys) n.2523-848A>T n.9391T>A | |
| 5 | g.90716657T>C | CA445413813 | ADGRV1 | c.9375T>C (p.Asn3125=) c.265+40448T>C (n.265+40448T>C) n.4834T>C c.3182T>C n.2519T>C c.4104T>C c.2072T>C n.9388T>C c.9372T>C (p.Asn3124=) c.9294T>C (p.Asn3098=) c.6678T>C (p.Asn2226=) n.272-848A>G c.9396T>C (p.Asn3132=) c.9393T>C (p.Asn3131=) c.9315T>C (p.Asn3105=) c.9300T>C (p.Asn3100=) c.2514T>C (p.Asn838=) c.2493T>C (p.Asn831=) n.2523-848A>G n.9391T>C | |
| 5 | g.90716657T>G | CA360397577 | ADGRV1 | c.9375T>G (p.Asn3125Lys) c.265+40448T>G (n.265+40448T>G) n.4834T>G c.3182T>G n.2519T>G c.4104T>G c.2072T>G n.9388T>G c.9372T>G (p.Asn3124Lys) c.9294T>G (p.Asn3098Lys) c.6678T>G (p.Asn2226Lys) n.272-848A>C c.9396T>G (p.Asn3132Lys) c.9393T>G (p.Asn3131Lys) c.9315T>G (p.Asn3105Lys) c.9300T>G (p.Asn3100Lys) c.2514T>G (p.Asn838Lys) c.2493T>G (p.Asn831Lys) n.2523-848A>C n.9391T>G | |
| 5 | g.90716658T>A | CA360397579 | ADGRV1 | c.9376T>A (p.Ser3126Thr) c.265+40449T>A (n.265+40449T>A) n.4835T>A c.3183T>A n.2520T>A c.4105T>A c.2073T>A n.9389T>A c.9373T>A (p.Ser3125Thr) c.9295T>A (p.Ser3099Thr) c.6679T>A (p.Ser2227Thr) n.272-849A>T c.9397T>A (p.Ser3133Thr) c.9394T>A (p.Ser3132Thr) c.9316T>A (p.Ser3106Thr) c.9301T>A (p.Ser3101Thr) c.2515T>A (p.Ser839Thr) c.2494T>A (p.Ser832Thr) n.2523-849A>T n.9392T>A | |
| 5 | g.90716658T>C | CA3340484 | ADGRV1 | c.9376T>C (p.Ser3126Pro) c.265+40449T>C (n.265+40449T>C) n.4835T>C c.3183T>C n.2520T>C c.4105T>C c.2073T>C n.9389T>C c.9373T>C (p.Ser3125Pro) c.9295T>C (p.Ser3099Pro) c.6679T>C (p.Ser2227Pro) n.272-849A>G c.9397T>C (p.Ser3133Pro) c.9394T>C (p.Ser3132Pro) c.9316T>C (p.Ser3106Pro) c.9301T>C (p.Ser3101Pro) c.2515T>C (p.Ser839Pro) c.2494T>C (p.Ser832Pro) n.2523-849A>G n.9392T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90716658T>G | CA360397581 | ADGRV1 | c.9376T>G (p.Ser3126Ala) c.265+40449T>G (n.265+40449T>G) n.4835T>G c.3183T>G n.2520T>G c.4105T>G c.2073T>G n.9389T>G c.9373T>G (p.Ser3125Ala) c.9295T>G (p.Ser3099Ala) c.6679T>G (p.Ser2227Ala) n.272-849A>C c.9397T>G (p.Ser3133Ala) c.9394T>G (p.Ser3132Ala) c.9316T>G (p.Ser3106Ala) c.9301T>G (p.Ser3101Ala) c.2515T>G (p.Ser839Ala) c.2494T>G (p.Ser832Ala) n.2523-849A>C n.9392T>G | |
| 5 | g.90716658T= | CA1562870621 | ADGRV1 | c.9376T= (p.Ser3126=) c.265+40449T= (n.265+40449T=) n.4835T= c.3183T= n.2520T= c.4105T= c.2073T= n.9389T= c.9373T= (p.Ser3125=) c.9295T= (p.Ser3099=) c.6679T= (p.Ser2227=) n.272-849A= c.9397T= (p.Ser3133=) c.9394T= (p.Ser3132=) c.9316T= (p.Ser3106=) c.9301T= (p.Ser3101=) c.2515T= (p.Ser839=) c.2494T= (p.Ser832=) n.2523-849A= n.9392T= | |
| 5 | g.90716659C>A | CA360397583 | ADGRV1 | c.9377C>A (p.Ser3126Tyr) c.265+40450C>A (n.265+40450C>A) n.4836C>A c.3184C>A n.2521C>A c.4106C>A c.2074C>A n.9390C>A c.9374C>A (p.Ser3125Tyr) c.9296C>A (p.Ser3099Tyr) c.6680C>A (p.Ser2227Tyr) n.272-850G>T c.9398C>A (p.Ser3133Tyr) c.9395C>A (p.Ser3132Tyr) c.9317C>A (p.Ser3106Tyr) c.9302C>A (p.Ser3101Tyr) c.2516C>A (p.Ser839Tyr) c.2495C>A (p.Ser832Tyr) n.2523-850G>T n.9393C>A | |
| 5 | g.90716659C>G | CA360397585 | ADGRV1 | c.9377C>G (p.Ser3126Cys) c.265+40450C>G (n.265+40450C>G) n.4836C>G c.3184C>G n.2521C>G c.4106C>G c.2074C>G n.9390C>G c.9374C>G (p.Ser3125Cys) c.9296C>G (p.Ser3099Cys) c.6680C>G (p.Ser2227Cys) n.272-850G>C c.9398C>G (p.Ser3133Cys) c.9395C>G (p.Ser3132Cys) c.9317C>G (p.Ser3106Cys) c.9302C>G (p.Ser3101Cys) c.2516C>G (p.Ser839Cys) c.2495C>G (p.Ser832Cys) n.2523-850G>C n.9393C>G | |
| 5 | g.90716659C>T | CA360397586 | ADGRV1 | c.9377C>T (p.Ser3126Phe) c.265+40450C>T (n.265+40450C>T) n.4836C>T c.3184C>T n.2521C>T c.4106C>T c.2074C>T n.9390C>T c.9374C>T (p.Ser3125Phe) c.9296C>T (p.Ser3099Phe) c.6680C>T (p.Ser2227Phe) n.272-850G>A c.9398C>T (p.Ser3133Phe) c.9395C>T (p.Ser3132Phe) c.9317C>T (p.Ser3106Phe) c.9302C>T (p.Ser3101Phe) c.2516C>T (p.Ser839Phe) c.2495C>T (p.Ser832Phe) n.2523-850G>A n.9393C>T | gnomAD v4 |
| 5 | g.90716660C>A | CA445413826 | ADGRV1 | c.9378C>A (p.Ser3126=) c.265+40451C>A (n.265+40451C>A) n.4837C>A c.3185C>A n.2522C>A c.4107C>A c.2075C>A n.9391C>A c.9375C>A (p.Ser3125=) c.9297C>A (p.Ser3099=) c.6681C>A (p.Ser2227=) n.272-851G>T c.9399C>A (p.Ser3133=) c.9396C>A (p.Ser3132=) c.9318C>A (p.Ser3106=) c.9303C>A (p.Ser3101=) c.2517C>A (p.Ser839=) c.2496C>A (p.Ser832=) n.2523-851G>T n.9394C>A | |
| 5 | g.90716660C>G | CA445413828 | ADGRV1 | c.9378C>G (p.Ser3126=) c.265+40451C>G (n.265+40451C>G) n.4837C>G c.3185C>G n.2522C>G c.4107C>G c.2075C>G n.9391C>G c.9375C>G (p.Ser3125=) c.9297C>G (p.Ser3099=) c.6681C>G (p.Ser2227=) n.272-851G>C c.9399C>G (p.Ser3133=) c.9396C>G (p.Ser3132=) c.9318C>G (p.Ser3106=) c.9303C>G (p.Ser3101=) c.2517C>G (p.Ser839=) c.2496C>G (p.Ser832=) n.2523-851G>C n.9394C>G | |
| 5 | g.90716660C>T | CA445413830 | ADGRV1 | c.9378C>T (p.Ser3126=) c.265+40451C>T (n.265+40451C>T) n.4837C>T c.3185C>T n.2522C>T c.4107C>T c.2075C>T n.9391C>T c.9375C>T (p.Ser3125=) c.9297C>T (p.Ser3099=) c.6681C>T (p.Ser2227=) n.272-851G>A c.9399C>T (p.Ser3133=) c.9396C>T (p.Ser3132=) c.9318C>T (p.Ser3106=) c.9303C>T (p.Ser3101=) c.2517C>T (p.Ser839=) c.2496C>T (p.Ser832=) n.2523-851G>A n.9394C>T | |
| 5 | g.90716661T>A | CA360397587 | ADGRV1 | c.9379T>A (p.Ser3127Thr) c.265+40452T>A (n.265+40452T>A) n.4838T>A c.3186T>A n.2523T>A c.4108T>A c.2076T>A n.9392T>A c.9376T>A (p.Ser3126Thr) c.9298T>A (p.Ser3100Thr) c.6682T>A (p.Ser2228Thr) n.272-852A>T c.9400T>A (p.Ser3134Thr) c.9397T>A (p.Ser3133Thr) c.9319T>A (p.Ser3107Thr) c.9304T>A (p.Ser3102Thr) c.2518T>A (p.Ser840Thr) c.2497T>A (p.Ser833Thr) n.2523-852A>T n.9395T>A | |
| 5 | g.90716661T>C | CA360397589 | ADGRV1 | c.9379T>C (p.Ser3127Pro) c.265+40452T>C (n.265+40452T>C) n.4838T>C c.3186T>C n.2523T>C c.4108T>C c.2076T>C n.9392T>C c.9376T>C (p.Ser3126Pro) c.9298T>C (p.Ser3100Pro) c.6682T>C (p.Ser2228Pro) n.272-852A>G c.9400T>C (p.Ser3134Pro) c.9397T>C (p.Ser3133Pro) c.9319T>C (p.Ser3107Pro) c.9304T>C (p.Ser3102Pro) c.2518T>C (p.Ser840Pro) c.2497T>C (p.Ser833Pro) n.2523-852A>G n.9395T>C | |
| 5 | g.90716661T>G | CA360397591 | ADGRV1 | c.9379T>G (p.Ser3127Ala) c.265+40452T>G (n.265+40452T>G) n.4838T>G c.3186T>G n.2523T>G c.4108T>G c.2076T>G n.9392T>G c.9376T>G (p.Ser3126Ala) c.9298T>G (p.Ser3100Ala) c.6682T>G (p.Ser2228Ala) n.272-852A>C c.9400T>G (p.Ser3134Ala) c.9397T>G (p.Ser3133Ala) c.9319T>G (p.Ser3107Ala) c.9304T>G (p.Ser3102Ala) c.2518T>G (p.Ser840Ala) c.2497T>G (p.Ser833Ala) n.2523-852A>C n.9395T>G | |
| 5 | g.90716662C>A | CA360397596 | ADGRV1 | c.9380C>A (p.Ser3127Ter) c.265+40453C>A (n.265+40453C>A) n.4839C>A c.3187C>A n.2524C>A c.4109C>A c.2077C>A n.9393C>A c.9377C>A (p.Ser3126Ter) c.9299C>A (p.Ser3100Ter) c.6683C>A (p.Ser2228Ter) n.272-853G>T c.9401C>A (p.Ser3134Ter) c.9398C>A (p.Ser3133Ter) c.9320C>A (p.Ser3107Ter) c.9305C>A (p.Ser3102Ter) c.2519C>A (p.Ser840Ter) c.2498C>A (p.Ser833Ter) n.2523-853G>T n.9396C>A | |
| 5 | g.90716662C= | CA1562870622 | ADGRV1 | c.9380C= (p.Ser3127=) c.265+40453C= (n.265+40453C=) n.4839C= c.3187C= n.2524C= c.4109C= c.2077C= n.9393C= c.9377C= (p.Ser3126=) c.9299C= (p.Ser3100=) c.6683C= (p.Ser2228=) n.272-853G= c.9401C= (p.Ser3134=) c.9398C= (p.Ser3133=) c.9320C= (p.Ser3107=) c.9305C= (p.Ser3102=) c.2519C= (p.Ser840=) c.2498C= (p.Ser833=) n.2523-853G= n.9396C= | |
| 5 | g.90716662C>G | CA360397594 | ADGRV1 | c.9380C>G (p.Ser3127Ter) c.265+40453C>G (n.265+40453C>G) n.4839C>G c.3187C>G n.2524C>G c.4109C>G c.2077C>G n.9393C>G c.9377C>G (p.Ser3126Ter) c.9299C>G (p.Ser3100Ter) c.6683C>G (p.Ser2228Ter) n.272-853G>C c.9401C>G (p.Ser3134Ter) c.9398C>G (p.Ser3133Ter) c.9320C>G (p.Ser3107Ter) c.9305C>G (p.Ser3102Ter) c.2519C>G (p.Ser840Ter) c.2498C>G (p.Ser833Ter) n.2523-853G>C n.9396C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90716662C>T | CA360397593 | ADGRV1 | c.9380C>T (p.Ser3127Leu) c.265+40453C>T (n.265+40453C>T) n.4839C>T c.3187C>T n.2524C>T c.4109C>T c.2077C>T n.9393C>T c.9377C>T (p.Ser3126Leu) c.9299C>T (p.Ser3100Leu) c.6683C>T (p.Ser2228Leu) n.272-853G>A c.9401C>T (p.Ser3134Leu) c.9398C>T (p.Ser3133Leu) c.9320C>T (p.Ser3107Leu) c.9305C>T (p.Ser3102Leu) c.2519C>T (p.Ser840Leu) c.2498C>T (p.Ser833Leu) n.2523-853G>A n.9396C>T | gnomAD v4 |
| 5 | g.90716663A>C | CA445413839 | ADGRV1 | c.9381A>C (p.Ser3127=) c.265+40454A>C (n.265+40454A>C) n.4840A>C c.3188A>C n.2525A>C c.4110A>C c.2078A>C n.9394A>C c.9378A>C (p.Ser3126=) c.9300A>C (p.Ser3100=) c.6684A>C (p.Ser2228=) n.272-854T>G c.9402A>C (p.Ser3134=) c.9399A>C (p.Ser3133=) c.9321A>C (p.Ser3107=) c.9306A>C (p.Ser3102=) c.2520A>C (p.Ser840=) c.2499A>C (p.Ser833=) n.2523-854T>G n.9397A>C | |
| 5 | g.90716663A>G | CA445413837 | ADGRV1 | c.9381A>G (p.Ser3127=) c.265+40454A>G (n.265+40454A>G) n.4840A>G c.3188A>G n.2525A>G c.4110A>G c.2078A>G n.9394A>G c.9378A>G (p.Ser3126=) c.9300A>G (p.Ser3100=) c.6684A>G (p.Ser2228=) n.272-854T>C c.9402A>G (p.Ser3134=) c.9399A>G (p.Ser3133=) c.9321A>G (p.Ser3107=) c.9306A>G (p.Ser3102=) c.2520A>G (p.Ser840=) c.2499A>G (p.Ser833=) n.2523-854T>C n.9397A>G | |
| 5 | g.90716663A>T | CA445413838 | ADGRV1 | c.9381A>T (p.Ser3127=) c.265+40454A>T (n.265+40454A>T) n.4840A>T c.3188A>T n.2525A>T c.4110A>T c.2078A>T n.9394A>T c.9378A>T (p.Ser3126=) c.9300A>T (p.Ser3100=) c.6684A>T (p.Ser2228=) n.272-854T>A c.9402A>T (p.Ser3134=) c.9399A>T (p.Ser3133=) c.9321A>T (p.Ser3107=) c.9306A>T (p.Ser3102=) c.2520A>T (p.Ser840=) c.2499A>T (p.Ser833=) n.2523-854T>A n.9397A>T | |
| 5 | g.90716664A>C | CA360397598 | ADGRV1 | c.9382A>C (p.Asn3128His) c.265+40455A>C (n.265+40455A>C) n.4841A>C c.3189A>C n.2526A>C c.4111A>C c.2079A>C n.9395A>C c.9379A>C (p.Asn3127His) c.9301A>C (p.Asn3101His) c.6685A>C (p.Asn2229His) n.272-855T>G c.9403A>C (p.Asn3135His) c.9400A>C (p.Asn3134His) c.9322A>C (p.Asn3108His) c.9307A>C (p.Asn3103His) c.2521A>C (p.Asn841His) c.2500A>C (p.Asn834His) n.2523-855T>G n.9398A>C | |
| 5 | g.90716664A>G | CA360397599 | ADGRV1 | c.9382A>G (p.Asn3128Asp) c.265+40455A>G (n.265+40455A>G) n.4841A>G c.3189A>G n.2526A>G c.4111A>G c.2079A>G n.9395A>G c.9379A>G (p.Asn3127Asp) c.9301A>G (p.Asn3101Asp) c.6685A>G (p.Asn2229Asp) n.272-855T>C c.9403A>G (p.Asn3135Asp) c.9400A>G (p.Asn3134Asp) c.9322A>G (p.Asn3108Asp) c.9307A>G (p.Asn3103Asp) c.2521A>G (p.Asn841Asp) c.2500A>G (p.Asn834Asp) n.2523-855T>C n.9398A>G | |
| 5 | g.90716664A>T | CA360397601 | ADGRV1 | c.9382A>T (p.Asn3128Tyr) c.265+40455A>T (n.265+40455A>T) n.4841A>T c.3189A>T n.2526A>T c.4111A>T c.2079A>T n.9395A>T c.9379A>T (p.Asn3127Tyr) c.9301A>T (p.Asn3101Tyr) c.6685A>T (p.Asn2229Tyr) n.272-855T>A c.9403A>T (p.Asn3135Tyr) c.9400A>T (p.Asn3134Tyr) c.9322A>T (p.Asn3108Tyr) c.9307A>T (p.Asn3103Tyr) c.2521A>T (p.Asn841Tyr) c.2500A>T (p.Asn834Tyr) n.2523-855T>A n.9398A>T | |
| 5 | g.90716665A>C | CA360397603 | ADGRV1 | c.9383A>C (p.Asn3128Thr) c.265+40456A>C (n.265+40456A>C) n.4842A>C c.3190A>C n.2527A>C c.4112A>C c.2080A>C n.9396A>C c.9380A>C (p.Asn3127Thr) c.9302A>C (p.Asn3101Thr) c.6686A>C (p.Asn2229Thr) n.272-856T>G c.9404A>C (p.Asn3135Thr) c.9401A>C (p.Asn3134Thr) c.9323A>C (p.Asn3108Thr) c.9308A>C (p.Asn3103Thr) c.2522A>C (p.Asn841Thr) c.2501A>C (p.Asn834Thr) n.2523-856T>G n.9399A>C | |
| 5 | g.90716665A>G | CA360397605 | ADGRV1 | c.9383A>G (p.Asn3128Ser) c.265+40456A>G (n.265+40456A>G) n.4842A>G c.3190A>G n.2527A>G c.4112A>G c.2080A>G n.9396A>G c.9380A>G (p.Asn3127Ser) c.9302A>G (p.Asn3101Ser) c.6686A>G (p.Asn2229Ser) n.272-856T>C c.9404A>G (p.Asn3135Ser) c.9401A>G (p.Asn3134Ser) c.9323A>G (p.Asn3108Ser) c.9308A>G (p.Asn3103Ser) c.2522A>G (p.Asn841Ser) c.2501A>G (p.Asn834Ser) n.2523-856T>C n.9399A>G | |
| 5 | g.90716665A>T | CA360397606 | ADGRV1 | c.9383A>T (p.Asn3128Ile) c.265+40456A>T (n.265+40456A>T) n.4842A>T c.3190A>T n.2527A>T c.4112A>T c.2080A>T n.9396A>T c.9380A>T (p.Asn3127Ile) c.9302A>T (p.Asn3101Ile) c.6686A>T (p.Asn2229Ile) n.272-856T>A c.9404A>T (p.Asn3135Ile) c.9401A>T (p.Asn3134Ile) c.9323A>T (p.Asn3108Ile) c.9308A>T (p.Asn3103Ile) c.2522A>T (p.Asn841Ile) c.2501A>T (p.Asn834Ile) n.2523-856T>A n.9399A>T | |
| 5 | g.90716666T>A | CA122805712 | ADGRV1 | c.9384T>A (p.Asn3128Lys) c.265+40457T>A (n.265+40457T>A) n.4843T>A c.3191T>A n.2528T>A c.4113T>A c.2081T>A n.9397T>A c.9381T>A (p.Asn3127Lys) c.9303T>A (p.Asn3101Lys) c.6687T>A (p.Asn2229Lys) n.272-857A>T c.9405T>A (p.Asn3135Lys) c.9402T>A (p.Asn3134Lys) c.9324T>A (p.Asn3108Lys) c.9309T>A (p.Asn3103Lys) c.2523T>A (p.Asn841Lys) c.2502T>A (p.Asn834Lys) n.2523-857A>T n.9400T>A | dbSNP |
| 5 | g.90716666T>C | CA445413854 | ADGRV1 | c.9384T>C (p.Asn3128=) c.265+40457T>C (n.265+40457T>C) n.4843T>C c.3191T>C n.2528T>C c.4113T>C c.2081T>C n.9397T>C c.9381T>C (p.Asn3127=) c.9303T>C (p.Asn3101=) c.6687T>C (p.Asn2229=) n.272-857A>G c.9405T>C (p.Asn3135=) c.9402T>C (p.Asn3134=) c.9324T>C (p.Asn3108=) c.9309T>C (p.Asn3103=) c.2523T>C (p.Asn841=) c.2502T>C (p.Asn834=) n.2523-857A>G n.9400T>C | |
| 5 | g.90716666T>G | CA360397608 | ADGRV1 | c.9384T>G (p.Asn3128Lys) c.265+40457T>G (n.265+40457T>G) n.4843T>G c.3191T>G n.2528T>G c.4113T>G c.2081T>G n.9397T>G c.9381T>G (p.Asn3127Lys) c.9303T>G (p.Asn3101Lys) c.6687T>G (p.Asn2229Lys) n.272-857A>C c.9405T>G (p.Asn3135Lys) c.9402T>G (p.Asn3134Lys) c.9324T>G (p.Asn3108Lys) c.9309T>G (p.Asn3103Lys) c.2523T>G (p.Asn841Lys) c.2502T>G (p.Asn834Lys) n.2523-857A>C n.9400T>G | |
| 5 | g.90716666T= | CA1562870623 | ADGRV1 | c.9384T= (p.Asn3128=) c.265+40457T= (n.265+40457T=) n.4843T= c.3191T= n.2528T= c.4113T= c.2081T= n.9397T= c.9381T= (p.Asn3127=) c.9303T= (p.Asn3101=) c.6687T= (p.Asn2229=) n.272-857A= c.9405T= (p.Asn3135=) c.9402T= (p.Asn3134=) c.9324T= (p.Asn3108=) c.9309T= (p.Asn3103=) c.2523T= (p.Asn841=) c.2502T= (p.Asn834=) n.2523-857A= n.9400T= | |
| 5 | g.90716667G>A | CA360397610 | ADGRV1 | c.9385G>A (p.Glu3129Lys) c.265+40458G>A (n.265+40458G>A) n.4844G>A c.3192G>A n.2529G>A c.4114G>A c.2082G>A n.9398G>A c.9382G>A (p.Glu3128Lys) c.9304G>A (p.Glu3102Lys) c.6688G>A (p.Glu2230Lys) n.272-858C>T c.9406G>A (p.Glu3136Lys) c.9403G>A (p.Glu3135Lys) c.9325G>A (p.Glu3109Lys) c.9310G>A (p.Glu3104Lys) c.2524G>A (p.Glu842Lys) c.2503G>A (p.Glu835Lys) n.2523-858C>T n.9401G>A | gnomAD v4 |
| 5 | g.90716667G>C | CA360397611 | ADGRV1 | c.9385G>C (p.Glu3129Gln) c.265+40458G>C (n.265+40458G>C) n.4844G>C c.3192G>C n.2529G>C c.4114G>C c.2082G>C n.9398G>C c.9382G>C (p.Glu3128Gln) c.9304G>C (p.Glu3102Gln) c.6688G>C (p.Glu2230Gln) n.272-858C>G c.9406G>C (p.Glu3136Gln) c.9403G>C (p.Glu3135Gln) c.9325G>C (p.Glu3109Gln) c.9310G>C (p.Glu3104Gln) c.2524G>C (p.Glu842Gln) c.2503G>C (p.Glu835Gln) n.2523-858C>G n.9401G>C | |
| 5 | g.90716667G>T | CA360397612 | ADGRV1 | c.9385G>T (p.Glu3129Ter) c.265+40458G>T (n.265+40458G>T) n.4844G>T c.3192G>T n.2529G>T c.4114G>T c.2082G>T n.9398G>T c.9382G>T (p.Glu3128Ter) c.9304G>T (p.Glu3102Ter) c.6688G>T (p.Glu2230Ter) n.272-858C>A c.9406G>T (p.Glu3136Ter) c.9403G>T (p.Glu3135Ter) c.9325G>T (p.Glu3109Ter) c.9310G>T (p.Glu3104Ter) c.2524G>T (p.Glu842Ter) c.2503G>T (p.Glu835Ter) n.2523-858C>A n.9401G>T | |
| 5 | g.90716668A>C | CA360397614 | ADGRV1 | c.9386A>C (p.Glu3129Ala) c.265+40459A>C (n.265+40459A>C) n.4845A>C c.3193A>C n.2530A>C c.4115A>C c.2083A>C n.9399A>C c.9383A>C (p.Glu3128Ala) c.9305A>C (p.Glu3102Ala) c.6689A>C (p.Glu2230Ala) n.272-859T>G c.9407A>C (p.Glu3136Ala) c.9404A>C (p.Glu3135Ala) c.9326A>C (p.Glu3109Ala) c.9311A>C (p.Glu3104Ala) c.2525A>C (p.Glu842Ala) c.2504A>C (p.Glu835Ala) n.2523-859T>G n.9402A>C |