| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 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 |