Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.90823496G>A | CA360425582 | ADGRV1 | c.16268G>A (p.Gly5423Glu) c.5222G>A (p.Gly1741Glu) n.3535G>A c.265+147287G>A (n.265+147287G>A) n.128+1314G>A c.2678G>A (p.Gly893Glu) c.3251G>A (p.Gly1084Glu) n.16281G>A c.16265G>A (p.Gly5422Glu) c.16187G>A (p.Gly5396Glu) c.13571G>A (p.Gly4524Glu) c.16289G>A (p.Gly5430Glu) c.16286G>A (p.Gly5429Glu) c.16208G>A (p.Gly5403Glu) c.16193G>A (p.Gly5398Glu) c.16109G>A (p.Gly5370Glu) c.9407G>A (p.Gly3136Glu) c.9386G>A (p.Gly3129Glu) n.16284G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
5 | g.90823496G>C | CA3342103 | ADGRV1 | c.16268G>C (p.Gly5423Ala) c.5222G>C (p.Gly1741Ala) n.3535G>C c.265+147287G>C (n.265+147287G>C) n.128+1314G>C c.2678G>C (p.Gly893Ala) c.3251G>C (p.Gly1084Ala) n.16281G>C c.16265G>C (p.Gly5422Ala) c.16187G>C (p.Gly5396Ala) c.13571G>C (p.Gly4524Ala) c.16289G>C (p.Gly5430Ala) c.16286G>C (p.Gly5429Ala) c.16208G>C (p.Gly5403Ala) c.16193G>C (p.Gly5398Ala) c.16109G>C (p.Gly5370Ala) c.9407G>C (p.Gly3136Ala) c.9386G>C (p.Gly3129Ala) n.16284G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823496G= | CA1562918273 | ADGRV1 | c.16268G= (p.Gly5423=) c.5222G= (p.Gly1741=) n.3535G= c.265+147287G= (n.265+147287G=) n.128+1314G= c.2678G= (p.Gly893=) c.3251G= (p.Gly1084=) n.16281G= c.16265G= (p.Gly5422=) c.16187G= (p.Gly5396=) c.13571G= (p.Gly4524=) c.16289G= (p.Gly5430=) c.16286G= (p.Gly5429=) c.16208G= (p.Gly5403=) c.16193G= (p.Gly5398=) c.16109G= (p.Gly5370=) c.9407G= (p.Gly3136=) c.9386G= (p.Gly3129=) n.16284G= | |
5 | g.90823496G>T | CA360425583 | ADGRV1 | c.16268G>T (p.Gly5423Val) c.5222G>T (p.Gly1741Val) n.3535G>T c.265+147287G>T (n.265+147287G>T) n.128+1314G>T c.2678G>T (p.Gly893Val) c.3251G>T (p.Gly1084Val) n.16281G>T c.16265G>T (p.Gly5422Val) c.16187G>T (p.Gly5396Val) c.13571G>T (p.Gly4524Val) c.16289G>T (p.Gly5430Val) c.16286G>T (p.Gly5429Val) c.16208G>T (p.Gly5403Val) c.16193G>T (p.Gly5398Val) c.16109G>T (p.Gly5370Val) c.9407G>T (p.Gly3136Val) c.9386G>T (p.Gly3129Val) n.16284G>T | gnomAD v4 |
5 | g.90823497G>A | CA122804101 | ADGRV1 | c.16269G>A (p.Gly5423=) c.5223G>A (p.Gly1741=) n.3536G>A c.265+147288G>A (n.265+147288G>A) n.128+1315G>A c.2679G>A (p.Gly893=) c.3252G>A (p.Gly1084=) n.16282G>A c.16266G>A (p.Gly5422=) c.16188G>A (p.Gly5396=) c.13572G>A (p.Gly4524=) c.16290G>A (p.Gly5430=) c.16287G>A (p.Gly5429=) c.16209G>A (p.Gly5403=) c.16194G>A (p.Gly5398=) c.16110G>A (p.Gly5370=) c.9408G>A (p.Gly3136=) c.9387G>A (p.Gly3129=) n.16285G>A | dbSNP gnomAD v4 |
5 | g.90823497G>C | CA445436560 | ADGRV1 | c.16269G>C (p.Gly5423=) c.5223G>C (p.Gly1741=) n.3536G>C c.265+147288G>C (n.265+147288G>C) n.128+1315G>C c.2679G>C (p.Gly893=) c.3252G>C (p.Gly1084=) n.16282G>C c.16266G>C (p.Gly5422=) c.16188G>C (p.Gly5396=) c.13572G>C (p.Gly4524=) c.16290G>C (p.Gly5430=) c.16287G>C (p.Gly5429=) c.16209G>C (p.Gly5403=) c.16194G>C (p.Gly5398=) c.16110G>C (p.Gly5370=) c.9408G>C (p.Gly3136=) c.9387G>C (p.Gly3129=) n.16285G>C | |
5 | g.90823497G= | CA1562918274 | ADGRV1 | c.16269G= (p.Gly5423=) c.5223G= (p.Gly1741=) n.3536G= c.265+147288G= (n.265+147288G=) n.128+1315G= c.2679G= (p.Gly893=) c.3252G= (p.Gly1084=) n.16282G= c.16266G= (p.Gly5422=) c.16188G= (p.Gly5396=) c.13572G= (p.Gly4524=) c.16290G= (p.Gly5430=) c.16287G= (p.Gly5429=) c.16209G= (p.Gly5403=) c.16194G= (p.Gly5398=) c.16110G= (p.Gly5370=) c.9408G= (p.Gly3136=) c.9387G= (p.Gly3129=) n.16285G= | |
5 | g.90823497G>T | CA445436561 | ADGRV1 | c.16269G>T (p.Gly5423=) c.5223G>T (p.Gly1741=) n.3536G>T c.265+147288G>T (n.265+147288G>T) n.128+1315G>T c.2679G>T (p.Gly893=) c.3252G>T (p.Gly1084=) n.16282G>T c.16266G>T (p.Gly5422=) c.16188G>T (p.Gly5396=) c.13572G>T (p.Gly4524=) c.16290G>T (p.Gly5430=) c.16287G>T (p.Gly5429=) c.16209G>T (p.Gly5403=) c.16194G>T (p.Gly5398=) c.16110G>T (p.Gly5370=) c.9408G>T (p.Gly3136=) c.9387G>T (p.Gly3129=) n.16285G>T | dbSNP |
5 | g.90823498G>A | CA360425584 | ADGRV1 | c.16270G>A (p.Val5424Ile) c.5224G>A (p.Val1742Ile) n.3537G>A c.265+147289G>A (n.265+147289G>A) n.128+1316G>A c.2680G>A (p.Val894Ile) c.3253G>A (p.Val1085Ile) n.16283G>A c.16267G>A (p.Val5423Ile) c.16189G>A (p.Val5397Ile) c.13573G>A (p.Val4525Ile) c.16291G>A (p.Val5431Ile) c.16288G>A (p.Val5430Ile) c.16210G>A (p.Val5404Ile) c.16195G>A (p.Val5399Ile) c.16111G>A (p.Val5371Ile) c.9409G>A (p.Val3137Ile) c.9388G>A (p.Val3130Ile) n.16286G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.90823498G>C | CA360425585 | ADGRV1 | c.16270G>C (p.Val5424Leu) c.5224G>C (p.Val1742Leu) n.3537G>C c.265+147289G>C (n.265+147289G>C) n.128+1316G>C c.2680G>C (p.Val894Leu) c.3253G>C (p.Val1085Leu) n.16283G>C c.16267G>C (p.Val5423Leu) c.16189G>C (p.Val5397Leu) c.13573G>C (p.Val4525Leu) c.16291G>C (p.Val5431Leu) c.16288G>C (p.Val5430Leu) c.16210G>C (p.Val5404Leu) c.16195G>C (p.Val5399Leu) c.16111G>C (p.Val5371Leu) c.9409G>C (p.Val3137Leu) c.9388G>C (p.Val3130Leu) n.16286G>C | ClinVar dbSNP |
5 | g.90823498G= | CA1562918275 | ADGRV1 | c.16270G= (p.Val5424=) c.5224G= (p.Val1742=) n.3537G= c.265+147289G= (n.265+147289G=) n.128+1316G= c.2680G= (p.Val894=) c.3253G= (p.Val1085=) n.16283G= c.16267G= (p.Val5423=) c.16189G= (p.Val5397=) c.13573G= (p.Val4525=) c.16291G= (p.Val5431=) c.16288G= (p.Val5430=) c.16210G= (p.Val5404=) c.16195G= (p.Val5399=) c.16111G= (p.Val5371=) c.9409G= (p.Val3137=) c.9388G= (p.Val3130=) n.16286G= | |
5 | g.90823498G>T | CA360425586 | ADGRV1 | c.16270G>T (p.Val5424Leu) c.5224G>T (p.Val1742Leu) n.3537G>T c.265+147289G>T (n.265+147289G>T) n.128+1316G>T c.2680G>T (p.Val894Leu) c.3253G>T (p.Val1085Leu) n.16283G>T c.16267G>T (p.Val5423Leu) c.16189G>T (p.Val5397Leu) c.13573G>T (p.Val4525Leu) c.16291G>T (p.Val5431Leu) c.16288G>T (p.Val5430Leu) c.16210G>T (p.Val5404Leu) c.16195G>T (p.Val5399Leu) c.16111G>T (p.Val5371Leu) c.9409G>T (p.Val3137Leu) c.9388G>T (p.Val3130Leu) n.16286G>T | |
5 | g.90823499T>A | CA360425589 | ADGRV1 | c.16271T>A (p.Val5424Glu) c.5225T>A (p.Val1742Glu) n.3538T>A c.265+147290T>A (n.265+147290T>A) n.128+1317T>A c.2681T>A (p.Val894Glu) c.3254T>A (p.Val1085Glu) n.16284T>A c.16268T>A (p.Val5423Glu) c.16190T>A (p.Val5397Glu) c.13574T>A (p.Val4525Glu) c.16292T>A (p.Val5431Glu) c.16289T>A (p.Val5430Glu) c.16211T>A (p.Val5404Glu) c.16196T>A (p.Val5399Glu) c.16112T>A (p.Val5371Glu) c.9410T>A (p.Val3137Glu) c.9389T>A (p.Val3130Glu) n.16287T>A | |
5 | g.90823499T>C | CA360425588 | ADGRV1 | c.16271T>C (p.Val5424Ala) c.5225T>C (p.Val1742Ala) n.3538T>C c.265+147290T>C (n.265+147290T>C) n.128+1317T>C c.2681T>C (p.Val894Ala) c.3254T>C (p.Val1085Ala) n.16284T>C c.16268T>C (p.Val5423Ala) c.16190T>C (p.Val5397Ala) c.13574T>C (p.Val4525Ala) c.16292T>C (p.Val5431Ala) c.16289T>C (p.Val5430Ala) c.16211T>C (p.Val5404Ala) c.16196T>C (p.Val5399Ala) c.16112T>C (p.Val5371Ala) c.9410T>C (p.Val3137Ala) c.9389T>C (p.Val3130Ala) n.16287T>C | |
5 | g.90823499T>G | CA360425587 | ADGRV1 | c.16271T>G (p.Val5424Gly) c.5225T>G (p.Val1742Gly) n.3538T>G c.265+147290T>G (n.265+147290T>G) n.128+1317T>G c.2681T>G (p.Val894Gly) c.3254T>G (p.Val1085Gly) n.16284T>G c.16268T>G (p.Val5423Gly) c.16190T>G (p.Val5397Gly) c.13574T>G (p.Val4525Gly) c.16292T>G (p.Val5431Gly) c.16289T>G (p.Val5430Gly) c.16211T>G (p.Val5404Gly) c.16196T>G (p.Val5399Gly) c.16112T>G (p.Val5371Gly) c.9410T>G (p.Val3137Gly) c.9389T>G (p.Val3130Gly) n.16287T>G | |
5 | g.90823500A>C | CA445436562 | ADGRV1 | c.16272A>C (p.Val5424=) c.5226A>C (p.Val1742=) n.3539A>C c.265+147291A>C (n.265+147291A>C) n.128+1318A>C c.2682A>C (p.Val894=) c.3255A>C (p.Val1085=) n.16285A>C c.16269A>C (p.Val5423=) c.16191A>C (p.Val5397=) c.13575A>C (p.Val4525=) c.16293A>C (p.Val5431=) c.16290A>C (p.Val5430=) c.16212A>C (p.Val5404=) c.16197A>C (p.Val5399=) c.16113A>C (p.Val5371=) c.9411A>C (p.Val3137=) c.9390A>C (p.Val3130=) n.16288A>C | |
5 | g.90823500A>G | CA445436563 | ADGRV1 | c.16272A>G (p.Val5424=) c.5226A>G (p.Val1742=) n.3539A>G c.265+147291A>G (n.265+147291A>G) n.128+1318A>G c.2682A>G (p.Val894=) c.3255A>G (p.Val1085=) n.16285A>G c.16269A>G (p.Val5423=) c.16191A>G (p.Val5397=) c.13575A>G (p.Val4525=) c.16293A>G (p.Val5431=) c.16290A>G (p.Val5430=) c.16212A>G (p.Val5404=) c.16197A>G (p.Val5399=) c.16113A>G (p.Val5371=) c.9411A>G (p.Val3137=) c.9390A>G (p.Val3130=) n.16288A>G | gnomAD v4 |
5 | g.90823500A>T | CA445436564 | ADGRV1 | c.16272A>T (p.Val5424=) c.5226A>T (p.Val1742=) n.3539A>T c.265+147291A>T (n.265+147291A>T) n.128+1318A>T c.2682A>T (p.Val894=) c.3255A>T (p.Val1085=) n.16285A>T c.16269A>T (p.Val5423=) c.16191A>T (p.Val5397=) c.13575A>T (p.Val4525=) c.16293A>T (p.Val5431=) c.16290A>T (p.Val5430=) c.16212A>T (p.Val5404=) c.16197A>T (p.Val5399=) c.16113A>T (p.Val5371=) c.9411A>T (p.Val3137=) c.9390A>T (p.Val3130=) n.16288A>T | |
5 | g.90823501A= | CA1562918276 | ADGRV1 | c.16273A= (p.Asn5425=) c.5227A= (p.Asn1743=) n.3540A= c.265+147292A= (n.265+147292A=) n.128+1319A= c.2683A= (p.Asn895=) c.3256A= (p.Asn1086=) n.16286A= c.16270A= (p.Asn5424=) c.16192A= (p.Asn5398=) c.13576A= (p.Asn4526=) c.16294A= (p.Asn5432=) c.16291A= (p.Asn5431=) c.16213A= (p.Asn5405=) c.16198A= (p.Asn5400=) c.16114A= (p.Asn5372=) c.9412A= (p.Asn3138=) c.9391A= (p.Asn3131=) n.16289A= | |
5 | g.90823501A>C | CA360425590 | ADGRV1 | c.16273A>C (p.Asn5425His) c.5227A>C (p.Asn1743His) n.3540A>C c.265+147292A>C (n.265+147292A>C) n.128+1319A>C c.2683A>C (p.Asn895His) c.3256A>C (p.Asn1086His) n.16286A>C c.16270A>C (p.Asn5424His) c.16192A>C (p.Asn5398His) c.13576A>C (p.Asn4526His) c.16294A>C (p.Asn5432His) c.16291A>C (p.Asn5431His) c.16213A>C (p.Asn5405His) c.16198A>C (p.Asn5400His) c.16114A>C (p.Asn5372His) c.9412A>C (p.Asn3138His) c.9391A>C (p.Asn3131His) n.16289A>C | |
5 | g.90823501A>G | CA3342104 | ADGRV1 | c.16273A>G (p.Asn5425Asp) c.5227A>G (p.Asn1743Asp) n.3540A>G c.265+147292A>G (n.265+147292A>G) n.128+1319A>G c.2683A>G (p.Asn895Asp) c.3256A>G (p.Asn1086Asp) n.16286A>G c.16270A>G (p.Asn5424Asp) c.16192A>G (p.Asn5398Asp) c.13576A>G (p.Asn4526Asp) c.16294A>G (p.Asn5432Asp) c.16291A>G (p.Asn5431Asp) c.16213A>G (p.Asn5405Asp) c.16198A>G (p.Asn5400Asp) c.16114A>G (p.Asn5372Asp) c.9412A>G (p.Asn3138Asp) c.9391A>G (p.Asn3131Asp) n.16289A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823501A>T | CA360425591 | ADGRV1 | c.16273A>T (p.Asn5425Tyr) c.5227A>T (p.Asn1743Tyr) n.3540A>T c.265+147292A>T (n.265+147292A>T) n.128+1319A>T c.2683A>T (p.Asn895Tyr) c.3256A>T (p.Asn1086Tyr) n.16286A>T c.16270A>T (p.Asn5424Tyr) c.16192A>T (p.Asn5398Tyr) c.13576A>T (p.Asn4526Tyr) c.16294A>T (p.Asn5432Tyr) c.16291A>T (p.Asn5431Tyr) c.16213A>T (p.Asn5405Tyr) c.16198A>T (p.Asn5400Tyr) c.16114A>T (p.Asn5372Tyr) c.9412A>T (p.Asn3138Tyr) c.9391A>T (p.Asn3131Tyr) n.16289A>T | gnomAD v4 |
5 | g.90823502A>C | CA360425592 | ADGRV1 | c.16274A>C (p.Asn5425Thr) c.5228A>C (p.Asn1743Thr) n.3541A>C c.265+147293A>C (n.265+147293A>C) n.128+1320A>C c.2684A>C (p.Asn895Thr) c.3257A>C (p.Asn1086Thr) n.16287A>C c.16271A>C (p.Asn5424Thr) c.16193A>C (p.Asn5398Thr) c.13577A>C (p.Asn4526Thr) c.16295A>C (p.Asn5432Thr) c.16292A>C (p.Asn5431Thr) c.16214A>C (p.Asn5405Thr) c.16199A>C (p.Asn5400Thr) c.16115A>C (p.Asn5372Thr) c.9413A>C (p.Asn3138Thr) c.9392A>C (p.Asn3131Thr) n.16290A>C | |
5 | g.90823502A>G | CA360425594 | ADGRV1 | c.16274A>G (p.Asn5425Ser) c.5228A>G (p.Asn1743Ser) n.3541A>G c.265+147293A>G (n.265+147293A>G) n.128+1320A>G c.2684A>G (p.Asn895Ser) c.3257A>G (p.Asn1086Ser) n.16287A>G c.16271A>G (p.Asn5424Ser) c.16193A>G (p.Asn5398Ser) c.13577A>G (p.Asn4526Ser) c.16295A>G (p.Asn5432Ser) c.16292A>G (p.Asn5431Ser) c.16214A>G (p.Asn5405Ser) c.16199A>G (p.Asn5400Ser) c.16115A>G (p.Asn5372Ser) c.9413A>G (p.Asn3138Ser) c.9392A>G (p.Asn3131Ser) n.16290A>G | |
5 | g.90823502A>T | CA360425593 | ADGRV1 | c.16274A>T (p.Asn5425Ile) c.5228A>T (p.Asn1743Ile) n.3541A>T c.265+147293A>T (n.265+147293A>T) n.128+1320A>T c.2684A>T (p.Asn895Ile) c.3257A>T (p.Asn1086Ile) n.16287A>T c.16271A>T (p.Asn5424Ile) c.16193A>T (p.Asn5398Ile) c.13577A>T (p.Asn4526Ile) c.16295A>T (p.Asn5432Ile) c.16292A>T (p.Asn5431Ile) c.16214A>T (p.Asn5405Ile) c.16199A>T (p.Asn5400Ile) c.16115A>T (p.Asn5372Ile) c.9413A>T (p.Asn3138Ile) c.9392A>T (p.Asn3131Ile) n.16290A>T | |
5 | g.90823503C>A | CA360425595 | ADGRV1 | c.16275C>A (p.Asn5425Lys) c.5229C>A (p.Asn1743Lys) n.3542C>A c.265+147294C>A (n.265+147294C>A) n.128+1321C>A c.2685C>A (p.Asn895Lys) c.3258C>A (p.Asn1086Lys) n.16288C>A c.16272C>A (p.Asn5424Lys) c.16194C>A (p.Asn5398Lys) c.13578C>A (p.Asn4526Lys) c.16296C>A (p.Asn5432Lys) c.16293C>A (p.Asn5431Lys) c.16215C>A (p.Asn5405Lys) c.16200C>A (p.Asn5400Lys) c.16116C>A (p.Asn5372Lys) c.9414C>A (p.Asn3138Lys) c.9393C>A (p.Asn3131Lys) n.16291C>A | |
5 | g.90823503C= | CA1562918277 | ADGRV1 | c.16275C= (p.Asn5425=) c.5229C= (p.Asn1743=) n.3542C= c.265+147294C= (n.265+147294C=) n.128+1321C= c.2685C= (p.Asn895=) c.3258C= (p.Asn1086=) n.16288C= c.16272C= (p.Asn5424=) c.16194C= (p.Asn5398=) c.13578C= (p.Asn4526=) c.16296C= (p.Asn5432=) c.16293C= (p.Asn5431=) c.16215C= (p.Asn5405=) c.16200C= (p.Asn5400=) c.16116C= (p.Asn5372=) c.9414C= (p.Asn3138=) c.9393C= (p.Asn3131=) n.16291C= | |
5 | g.90823503C>G | CA360425596 | ADGRV1 | c.16275C>G (p.Asn5425Lys) c.5229C>G (p.Asn1743Lys) n.3542C>G c.265+147294C>G (n.265+147294C>G) n.128+1321C>G c.2685C>G (p.Asn895Lys) c.3258C>G (p.Asn1086Lys) n.16288C>G c.16272C>G (p.Asn5424Lys) c.16194C>G (p.Asn5398Lys) c.13578C>G (p.Asn4526Lys) c.16296C>G (p.Asn5432Lys) c.16293C>G (p.Asn5431Lys) c.16215C>G (p.Asn5405Lys) c.16200C>G (p.Asn5400Lys) c.16116C>G (p.Asn5372Lys) c.9414C>G (p.Asn3138Lys) c.9393C>G (p.Asn3131Lys) n.16291C>G | |
5 | g.90823503C>T | CA445436565 | ADGRV1 | c.16275C>T (p.Asn5425=) c.5229C>T (p.Asn1743=) n.3542C>T c.265+147294C>T (n.265+147294C>T) n.128+1321C>T c.2685C>T (p.Asn895=) c.3258C>T (p.Asn1086=) n.16288C>T c.16272C>T (p.Asn5424=) c.16194C>T (p.Asn5398=) c.13578C>T (p.Asn4526=) c.16296C>T (p.Asn5432=) c.16293C>T (p.Asn5431=) c.16215C>T (p.Asn5405=) c.16200C>T (p.Asn5400=) c.16116C>T (p.Asn5372=) c.9414C>T (p.Asn3138=) c.9393C>T (p.Asn3131=) n.16291C>T | dbSNP |
5 | g.90823504C>A | CA360425597 | ADGRV1 | c.16276C>A (p.Leu5426Met) c.5230C>A (p.Leu1744Met) n.3543C>A c.265+147295C>A (n.265+147295C>A) n.128+1322C>A c.2686C>A (p.Leu896Met) c.3259C>A (p.Leu1087Met) n.16289C>A c.16273C>A (p.Leu5425Met) c.16195C>A (p.Leu5399Met) c.13579C>A (p.Leu4527Met) c.16297C>A (p.Leu5433Met) c.16294C>A (p.Leu5432Met) c.16216C>A (p.Leu5406Met) c.16201C>A (p.Leu5401Met) c.16117C>A (p.Leu5373Met) c.9415C>A (p.Leu3139Met) c.9394C>A (p.Leu3132Met) n.16292C>A | |
5 | g.90823504C= | CA1562918278 | ADGRV1 | c.16276C= (p.Leu5426=) c.5230C= (p.Leu1744=) n.3543C= c.265+147295C= (n.265+147295C=) n.128+1322C= c.2686C= (p.Leu896=) c.3259C= (p.Leu1087=) n.16289C= c.16273C= (p.Leu5425=) c.16195C= (p.Leu5399=) c.13579C= (p.Leu4527=) c.16297C= (p.Leu5433=) c.16294C= (p.Leu5432=) c.16216C= (p.Leu5406=) c.16201C= (p.Leu5401=) c.16117C= (p.Leu5373=) c.9415C= (p.Leu3139=) c.9394C= (p.Leu3132=) n.16292C= | |
5 | g.90823504C>G | CA360425598 | ADGRV1 | c.16276C>G (p.Leu5426Val) c.5230C>G (p.Leu1744Val) n.3543C>G c.265+147295C>G (n.265+147295C>G) n.128+1322C>G c.2686C>G (p.Leu896Val) c.3259C>G (p.Leu1087Val) n.16289C>G c.16273C>G (p.Leu5425Val) c.16195C>G (p.Leu5399Val) c.13579C>G (p.Leu4527Val) c.16297C>G (p.Leu5433Val) c.16294C>G (p.Leu5432Val) c.16216C>G (p.Leu5406Val) c.16201C>G (p.Leu5401Val) c.16117C>G (p.Leu5373Val) c.9415C>G (p.Leu3139Val) c.9394C>G (p.Leu3132Val) n.16292C>G | |
5 | g.90823504C>T | CA122804105 | ADGRV1 | c.16276C>T (p.Leu5426=) c.5230C>T (p.Leu1744=) n.3543C>T c.265+147295C>T (n.265+147295C>T) n.128+1322C>T c.2686C>T (p.Leu896=) c.3259C>T (p.Leu1087=) n.16289C>T c.16273C>T (p.Leu5425=) c.16195C>T (p.Leu5399=) c.13579C>T (p.Leu4527=) c.16297C>T (p.Leu5433=) c.16294C>T (p.Leu5432=) c.16216C>T (p.Leu5406=) c.16201C>T (p.Leu5401=) c.16117C>T (p.Leu5373=) c.9415C>T (p.Leu3139=) c.9394C>T (p.Leu3132=) n.16292C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.90823505T>A | CA360425599 | ADGRV1 | c.16277T>A (p.Leu5426Gln) c.5231T>A (p.Leu1744Gln) n.3544T>A c.265+147296T>A (n.265+147296T>A) n.128+1323T>A c.2687T>A (p.Leu896Gln) c.3260T>A (p.Leu1087Gln) n.16290T>A c.16274T>A (p.Leu5425Gln) c.16196T>A (p.Leu5399Gln) c.13580T>A (p.Leu4527Gln) c.16298T>A (p.Leu5433Gln) c.16295T>A (p.Leu5432Gln) c.16217T>A (p.Leu5406Gln) c.16202T>A (p.Leu5401Gln) c.16118T>A (p.Leu5373Gln) c.9416T>A (p.Leu3139Gln) c.9395T>A (p.Leu3132Gln) n.16293T>A | |
5 | g.90823505T>C | CA360425600 | ADGRV1 | c.16277T>C (p.Leu5426Pro) c.5231T>C (p.Leu1744Pro) n.3544T>C c.265+147296T>C (n.265+147296T>C) n.128+1323T>C c.2687T>C (p.Leu896Pro) c.3260T>C (p.Leu1087Pro) n.16290T>C c.16274T>C (p.Leu5425Pro) c.16196T>C (p.Leu5399Pro) c.13580T>C (p.Leu4527Pro) c.16298T>C (p.Leu5433Pro) c.16295T>C (p.Leu5432Pro) c.16217T>C (p.Leu5406Pro) c.16202T>C (p.Leu5401Pro) c.16118T>C (p.Leu5373Pro) c.9416T>C (p.Leu3139Pro) c.9395T>C (p.Leu3132Pro) n.16293T>C | |
5 | g.90823505T>G | CA360425601 | ADGRV1 | c.16277T>G (p.Leu5426Arg) c.5231T>G (p.Leu1744Arg) n.3544T>G c.265+147296T>G (n.265+147296T>G) n.128+1323T>G c.2687T>G (p.Leu896Arg) c.3260T>G (p.Leu1087Arg) n.16290T>G c.16274T>G (p.Leu5425Arg) c.16196T>G (p.Leu5399Arg) c.13580T>G (p.Leu4527Arg) c.16298T>G (p.Leu5433Arg) c.16295T>G (p.Leu5432Arg) c.16217T>G (p.Leu5406Arg) c.16202T>G (p.Leu5401Arg) c.16118T>G (p.Leu5373Arg) c.9416T>G (p.Leu3139Arg) c.9395T>G (p.Leu3132Arg) n.16293T>G | |
5 | g.90823508_90823510del | CA2674577101 | ADGRV1 | c.16280_16282del (p.Val5427del) c.5234_5236del (p.Val1745del) n.3547_3549del c.265+147299_265+147301del (n.265+147299_265+147301del) n.128+1326_128+1328del c.2690_2692del (p.Val897del) c.3263_3265del (p.Val1088del) n.16293_16295del c.16277_16279del (p.Val5426del) c.16199_16201del (p.Val5400del) c.13583_13585del (p.Val4528del) c.16301_16303del (p.Val5434del) c.16298_16300del (p.Val5433del) c.16220_16222del (p.Val5407del) c.16205_16207del (p.Val5402del) c.16121_16123del (p.Val5374del) c.9419_9421del (p.Val3140del) c.9398_9400del (p.Val3133del) n.16296_16298del | gnomAD v4 |
5 | g.90823506G>A | CA445436566 | ADGRV1 | c.16278G>A (p.Leu5426=) c.5232G>A (p.Leu1744=) n.3545G>A c.265+147297G>A (n.265+147297G>A) n.128+1324G>A c.2688G>A (p.Leu896=) c.3261G>A (p.Leu1087=) n.16291G>A c.16275G>A (p.Leu5425=) c.16197G>A (p.Leu5399=) c.13581G>A (p.Leu4527=) c.16299G>A (p.Leu5433=) c.16296G>A (p.Leu5432=) c.16218G>A (p.Leu5406=) c.16203G>A (p.Leu5401=) c.16119G>A (p.Leu5373=) c.9417G>A (p.Leu3139=) c.9396G>A (p.Leu3132=) n.16294G>A | |
5 | g.90823506G>C | CA445436567 | ADGRV1 | c.16278G>C (p.Leu5426=) c.5232G>C (p.Leu1744=) n.3545G>C c.265+147297G>C (n.265+147297G>C) n.128+1324G>C c.2688G>C (p.Leu896=) c.3261G>C (p.Leu1087=) n.16291G>C c.16275G>C (p.Leu5425=) c.16197G>C (p.Leu5399=) c.13581G>C (p.Leu4527=) c.16299G>C (p.Leu5433=) c.16296G>C (p.Leu5432=) c.16218G>C (p.Leu5406=) c.16203G>C (p.Leu5401=) c.16119G>C (p.Leu5373=) c.9417G>C (p.Leu3139=) c.9396G>C (p.Leu3132=) n.16294G>C | dbSNP gnomAD v4 |
5 | g.90823506G= | CA1562918279 | ADGRV1 | c.16278G= (p.Leu5426=) c.5232G= (p.Leu1744=) n.3545G= c.265+147297G= (n.265+147297G=) n.128+1324G= c.2688G= (p.Leu896=) c.3261G= (p.Leu1087=) n.16291G= c.16275G= (p.Leu5425=) c.16197G= (p.Leu5399=) c.13581G= (p.Leu4527=) c.16299G= (p.Leu5433=) c.16296G= (p.Leu5432=) c.16218G= (p.Leu5406=) c.16203G= (p.Leu5401=) c.16119G= (p.Leu5373=) c.9417G= (p.Leu3139=) c.9396G= (p.Leu3132=) n.16294G= | |
5 | g.90823506G>T | CA445436568 | ADGRV1 | c.16278G>T (p.Leu5426=) c.5232G>T (p.Leu1744=) n.3545G>T c.265+147297G>T (n.265+147297G>T) n.128+1324G>T c.2688G>T (p.Leu896=) c.3261G>T (p.Leu1087=) n.16291G>T c.16275G>T (p.Leu5425=) c.16197G>T (p.Leu5399=) c.13581G>T (p.Leu4527=) c.16299G>T (p.Leu5433=) c.16296G>T (p.Leu5432=) c.16218G>T (p.Leu5406=) c.16203G>T (p.Leu5401=) c.16119G>T (p.Leu5373=) c.9417G>T (p.Leu3139=) c.9396G>T (p.Leu3132=) n.16294G>T | |
5 | g.90823507G>A | CA138057 | ADGRV1 | c.16279G>A (p.Val5427Met) c.5233G>A (p.Val1745Met) n.3546G>A c.265+147298G>A (n.265+147298G>A) n.128+1325G>A c.2689G>A (p.Val897Met) c.3262G>A (p.Val1088Met) n.16292G>A c.16276G>A (p.Val5426Met) c.16198G>A (p.Val5400Met) c.13582G>A (p.Val4528Met) c.16300G>A (p.Val5434Met) c.16297G>A (p.Val5433Met) c.16219G>A (p.Val5407Met) c.16204G>A (p.Val5402Met) c.16120G>A (p.Val5374Met) c.9418G>A (p.Val3140Met) c.9397G>A (p.Val3133Met) n.16295G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823507G>C | CA360425602 | ADGRV1 | c.16279G>C (p.Val5427Leu) c.5233G>C (p.Val1745Leu) n.3546G>C c.265+147298G>C (n.265+147298G>C) n.128+1325G>C c.2689G>C (p.Val897Leu) c.3262G>C (p.Val1088Leu) n.16292G>C c.16276G>C (p.Val5426Leu) c.16198G>C (p.Val5400Leu) c.13582G>C (p.Val4528Leu) c.16300G>C (p.Val5434Leu) c.16297G>C (p.Val5433Leu) c.16219G>C (p.Val5407Leu) c.16204G>C (p.Val5402Leu) c.16120G>C (p.Val5374Leu) c.9418G>C (p.Val3140Leu) c.9397G>C (p.Val3133Leu) n.16295G>C | dbSNP gnomAD v4 |
5 | g.90823507G= | CA1562918281 | ADGRV1 | c.16279G= (p.Val5427=) c.5233G= (p.Val1745=) n.3546G= c.265+147298G= (n.265+147298G=) n.128+1325G= c.2689G= (p.Val897=) c.3262G= (p.Val1088=) n.16292G= c.16276G= (p.Val5426=) c.16198G= (p.Val5400=) c.13582G= (p.Val4528=) c.16300G= (p.Val5434=) c.16297G= (p.Val5433=) c.16219G= (p.Val5407=) c.16204G= (p.Val5402=) c.16120G= (p.Val5374=) c.9418G= (p.Val3140=) c.9397G= (p.Val3133=) n.16295G= | |
5 | g.90823507G>T | CA360425603 | ADGRV1 | c.16279G>T (p.Val5427Leu) c.5233G>T (p.Val1745Leu) n.3546G>T c.265+147298G>T (n.265+147298G>T) n.128+1325G>T c.2689G>T (p.Val897Leu) c.3262G>T (p.Val1088Leu) n.16292G>T c.16276G>T (p.Val5426Leu) c.16198G>T (p.Val5400Leu) c.13582G>T (p.Val4528Leu) c.16300G>T (p.Val5434Leu) c.16297G>T (p.Val5433Leu) c.16219G>T (p.Val5407Leu) c.16204G>T (p.Val5402Leu) c.16120G>T (p.Val5374Leu) c.9418G>T (p.Val3140Leu) c.9397G>T (p.Val3133Leu) n.16295G>T | dbSNP gnomAD v4 |
5 | g.90823507_90823508delinsAA | CA916082738 | ADGRV1 | c.16279_16280delinsAA (p.Val5427Lys) c.5233_5234delinsAA (p.Val1745Lys) n.3546_3547delinsAA c.265+147298_265+147299delinsAA (n.265+147298_265+147299delinsAA) n.128+1325_128+1326delinsAA c.2689_2690delinsAA (p.Val897Lys) c.3262_3263delinsAA (p.Val1088Lys) n.16292_16293delinsAA c.16276_16277delinsAA (p.Val5426Lys) c.16198_16199delinsAA (p.Val5400Lys) c.13582_13583delinsAA (p.Val4528Lys) c.16300_16301delinsAA (p.Val5434Lys) c.16297_16298delinsAA (p.Val5433Lys) c.16219_16220delinsAA (p.Val5407Lys) c.16204_16205delinsAA (p.Val5402Lys) c.16120_16121delinsAA (p.Val5374Lys) c.9418_9419delinsAA (p.Val3140Lys) c.9397_9398delinsAA (p.Val3133Lys) n.16295_16296delinsAA | ClinVar dbSNP |
5 | g.90823507_90823508delinsGT | CA1562918280 | ADGRV1 | c.16279_16280delinsGT (p.Val5427=) c.5233_5234delinsGT (p.Val1745=) n.3546_3547delinsGT c.265+147298_265+147299delinsGT (n.265+147298_265+147299delinsGT) n.128+1325_128+1326delinsGT c.2689_2690delinsGT (p.Val897=) c.3262_3263delinsGT (p.Val1088=) n.16292_16293delinsGT c.16276_16277delinsGT (p.Val5426=) c.16198_16199delinsGT (p.Val5400=) c.13582_13583delinsGT (p.Val4528=) c.16300_16301delinsGT (p.Val5434=) c.16297_16298delinsGT (p.Val5433=) c.16219_16220delinsGT (p.Val5407=) c.16204_16205delinsGT (p.Val5402=) c.16120_16121delinsGT (p.Val5374=) c.9418_9419delinsGT (p.Val3140=) c.9397_9398delinsGT (p.Val3133=) n.16295_16296delinsGT | |
5 | g.90823508T>A | CA3342105 | ADGRV1 | c.16280T>A (p.Val5427Glu) c.5234T>A (p.Val1745Glu) n.3547T>A c.265+147299T>A (n.265+147299T>A) n.128+1326T>A c.2690T>A (p.Val897Glu) c.3263T>A (p.Val1088Glu) n.16293T>A c.16277T>A (p.Val5426Glu) c.16199T>A (p.Val5400Glu) c.13583T>A (p.Val4528Glu) c.16301T>A (p.Val5434Glu) c.16298T>A (p.Val5433Glu) c.16220T>A (p.Val5407Glu) c.16205T>A (p.Val5402Glu) c.16121T>A (p.Val5374Glu) c.9419T>A (p.Val3140Glu) c.9398T>A (p.Val3133Glu) n.16296T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90823508T>C | CA360425604 | ADGRV1 | c.16280T>C (p.Val5427Ala) c.5234T>C (p.Val1745Ala) n.3547T>C c.265+147299T>C (n.265+147299T>C) n.128+1326T>C c.2690T>C (p.Val897Ala) c.3263T>C (p.Val1088Ala) n.16293T>C c.16277T>C (p.Val5426Ala) c.16199T>C (p.Val5400Ala) c.13583T>C (p.Val4528Ala) c.16301T>C (p.Val5434Ala) c.16298T>C (p.Val5433Ala) c.16220T>C (p.Val5407Ala) c.16205T>C (p.Val5402Ala) c.16121T>C (p.Val5374Ala) c.9419T>C (p.Val3140Ala) c.9398T>C (p.Val3133Ala) n.16296T>C | dbSNP gnomAD v3 gnomAD v4 |
5 | g.90823508T>G | CA360425605 | ADGRV1 | c.16280T>G (p.Val5427Gly) c.5234T>G (p.Val1745Gly) n.3547T>G c.265+147299T>G (n.265+147299T>G) n.128+1326T>G c.2690T>G (p.Val897Gly) c.3263T>G (p.Val1088Gly) n.16293T>G c.16277T>G (p.Val5426Gly) c.16199T>G (p.Val5400Gly) c.13583T>G (p.Val4528Gly) c.16301T>G (p.Val5434Gly) c.16298T>G (p.Val5433Gly) c.16220T>G (p.Val5407Gly) c.16205T>G (p.Val5402Gly) c.16121T>G (p.Val5374Gly) c.9419T>G (p.Val3140Gly) c.9398T>G (p.Val3133Gly) n.16296T>G | |
5 | g.90823508T= | CA1562918282 | ADGRV1 | c.16280T= (p.Val5427=) c.5234T= (p.Val1745=) n.3547T= c.265+147299T= (n.265+147299T=) n.128+1326T= c.2690T= (p.Val897=) c.3263T= (p.Val1088=) n.16293T= c.16277T= (p.Val5426=) c.16199T= (p.Val5400=) c.13583T= (p.Val4528=) c.16301T= (p.Val5434=) c.16298T= (p.Val5433=) c.16220T= (p.Val5407=) c.16205T= (p.Val5402=) c.16121T= (p.Val5374=) c.9419T= (p.Val3140=) c.9398T= (p.Val3133=) n.16296T= | |
5 | g.90823508_90823509insTCCTCCATCAGGTT | CA2674577102 | ADGRV1 | c.16280_16281insTCCTCCATCAGGTT (p.Glu5428ProfsTer?) c.5234_5235insTCCTCCATCAGGTT (p.Glu1746ProfsTer?) n.3547_3548insTCCTCCATCAGGTT c.265+147299_265+147300insTCCTCCATCAGGTT (n.265+147299_265+147300insTCCTCCATCAGGTT) n.128+1326_128+1327insTCCTCCATCAGGTT c.2690_2691insTCCTCCATCAGGTT (p.Glu898ProfsTer?) c.3263_3264insTCCTCCATCAGGTT (p.Glu1089ProfsTer?) n.16293_16294insTCCTCCATCAGGTT c.16277_16278insTCCTCCATCAGGTT (p.Glu5427ProfsTer?) c.16199_16200insTCCTCCATCAGGTT (p.Glu5401ProfsTer?) c.13583_13584insTCCTCCATCAGGTT (p.Glu4529ProfsTer?) c.16301_16302insTCCTCCATCAGGTT (p.Glu5435ProfsTer?) c.16298_16299insTCCTCCATCAGGTT (p.Glu5434ProfsTer?) c.16220_16221insTCCTCCATCAGGTT (p.Glu5408ProfsTer?) c.16205_16206insTCCTCCATCAGGTT (p.Glu5403ProfsTer?) c.16121_16122insTCCTCCATCAGGTT (p.Glu5375ProfsTer?) c.9419_9420insTCCTCCATCAGGTT (p.Glu3141ProfsTer?) c.9398_9399insTCCTCCATCAGGTT (p.Glu3134ProfsTer?) n.16296_16297insTCCTCCATCAGGTT | gnomAD v4 |
5 | g.90823509G>A | CA445436570 | ADGRV1 | c.16281G>A (p.Val5427=) c.5235G>A (p.Val1745=) n.3548G>A c.265+147300G>A (n.265+147300G>A) n.128+1327G>A c.2691G>A (p.Val897=) c.3264G>A (p.Val1088=) n.16294G>A c.16278G>A (p.Val5426=) c.16200G>A (p.Val5400=) c.13584G>A (p.Val4528=) c.16302G>A (p.Val5434=) c.16299G>A (p.Val5433=) c.16221G>A (p.Val5407=) c.16206G>A (p.Val5402=) c.16122G>A (p.Val5374=) c.9420G>A (p.Val3140=) c.9399G>A (p.Val3133=) n.16297G>A | |
5 | g.90823509G>C | CA445436569 | ADGRV1 | c.16281G>C (p.Val5427=) c.5235G>C (p.Val1745=) n.3548G>C c.265+147300G>C (n.265+147300G>C) n.128+1327G>C c.2691G>C (p.Val897=) c.3264G>C (p.Val1088=) n.16294G>C c.16278G>C (p.Val5426=) c.16200G>C (p.Val5400=) c.13584G>C (p.Val4528=) c.16302G>C (p.Val5434=) c.16299G>C (p.Val5433=) c.16221G>C (p.Val5407=) c.16206G>C (p.Val5402=) c.16122G>C (p.Val5374=) c.9420G>C (p.Val3140=) c.9399G>C (p.Val3133=) n.16297G>C | |
5 | g.90823509G>T | CA445436571 | ADGRV1 | c.16281G>T (p.Val5427=) c.5235G>T (p.Val1745=) n.3548G>T c.265+147300G>T (n.265+147300G>T) n.128+1327G>T c.2691G>T (p.Val897=) c.3264G>T (p.Val1088=) n.16294G>T c.16278G>T (p.Val5426=) c.16200G>T (p.Val5400=) c.13584G>T (p.Val4528=) c.16302G>T (p.Val5434=) c.16299G>T (p.Val5433=) c.16221G>T (p.Val5407=) c.16206G>T (p.Val5402=) c.16122G>T (p.Val5374=) c.9420G>T (p.Val3140=) c.9399G>T (p.Val3133=) n.16297G>T | gnomAD v4 |
5 | g.90823510G>A | CA360425606 | ADGRV1 | c.16282G>A (p.Glu5428Lys) c.5236G>A (p.Glu1746Lys) n.3549G>A c.265+147301G>A (n.265+147301G>A) n.128+1328G>A c.2692G>A (p.Glu898Lys) c.3265G>A (p.Glu1089Lys) n.16295G>A c.16279G>A (p.Glu5427Lys) c.16201G>A (p.Glu5401Lys) c.13585G>A (p.Glu4529Lys) c.16303G>A (p.Glu5435Lys) c.16300G>A (p.Glu5434Lys) c.16222G>A (p.Glu5408Lys) c.16207G>A (p.Glu5403Lys) c.16123G>A (p.Glu5375Lys) c.9421G>A (p.Glu3141Lys) c.9400G>A (p.Glu3134Lys) n.16298G>A | |
5 | g.90823510G>C | CA3342106 | ADGRV1 | c.16282G>C (p.Glu5428Gln) c.5236G>C (p.Glu1746Gln) n.3549G>C c.265+147301G>C (n.265+147301G>C) n.128+1328G>C c.2692G>C (p.Glu898Gln) c.3265G>C (p.Glu1089Gln) n.16295G>C c.16279G>C (p.Glu5427Gln) c.16201G>C (p.Glu5401Gln) c.13585G>C (p.Glu4529Gln) c.16303G>C (p.Glu5435Gln) c.16300G>C (p.Glu5434Gln) c.16222G>C (p.Glu5408Gln) c.16207G>C (p.Glu5403Gln) c.16123G>C (p.Glu5375Gln) c.9421G>C (p.Glu3141Gln) c.9400G>C (p.Glu3134Gln) n.16298G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90823510G= | CA1562918283 | ADGRV1 | c.16282G= (p.Glu5428=) c.5236G= (p.Glu1746=) n.3549G= c.265+147301G= (n.265+147301G=) n.128+1328G= c.2692G= (p.Glu898=) c.3265G= (p.Glu1089=) n.16295G= c.16279G= (p.Glu5427=) c.16201G= (p.Glu5401=) c.13585G= (p.Glu4529=) c.16303G= (p.Glu5435=) c.16300G= (p.Glu5434=) c.16222G= (p.Glu5408=) c.16207G= (p.Glu5403=) c.16123G= (p.Glu5375=) c.9421G= (p.Glu3141=) c.9400G= (p.Glu3134=) n.16298G= | |
5 | g.90823510G>T | CA360425607 | ADGRV1 | c.16282G>T (p.Glu5428Ter) c.5236G>T (p.Glu1746Ter) n.3549G>T c.265+147301G>T (n.265+147301G>T) n.128+1328G>T c.2692G>T (p.Glu898Ter) c.3265G>T (p.Glu1089Ter) n.16295G>T c.16279G>T (p.Glu5427Ter) c.16201G>T (p.Glu5401Ter) c.13585G>T (p.Glu4529Ter) c.16303G>T (p.Glu5435Ter) c.16300G>T (p.Glu5434Ter) c.16222G>T (p.Glu5408Ter) c.16207G>T (p.Glu5403Ter) c.16123G>T (p.Glu5375Ter) c.9421G>T (p.Glu3141Ter) c.9400G>T (p.Glu3134Ter) n.16298G>T | |
5 | g.90823511A= | CA1562918284 | ADGRV1 | c.16283A= (p.Glu5428=) c.5237A= (p.Glu1746=) n.3550A= c.265+147302A= (n.265+147302A=) n.128+1329A= c.2693A= (p.Glu898=) c.3266A= (p.Glu1089=) n.16296A= c.16280A= (p.Glu5427=) c.16202A= (p.Glu5401=) c.13586A= (p.Glu4529=) c.16304A= (p.Glu5435=) c.16301A= (p.Glu5434=) c.16223A= (p.Glu5408=) c.16208A= (p.Glu5403=) c.16124A= (p.Glu5375=) c.9422A= (p.Glu3141=) c.9401A= (p.Glu3134=) n.16299A= | |
5 | g.90823511A>C | CA360425608 | ADGRV1 | c.16283A>C (p.Glu5428Ala) c.5237A>C (p.Glu1746Ala) n.3550A>C c.265+147302A>C (n.265+147302A>C) n.128+1329A>C c.2693A>C (p.Glu898Ala) c.3266A>C (p.Glu1089Ala) n.16296A>C c.16280A>C (p.Glu5427Ala) c.16202A>C (p.Glu5401Ala) c.13586A>C (p.Glu4529Ala) c.16304A>C (p.Glu5435Ala) c.16301A>C (p.Glu5434Ala) c.16223A>C (p.Glu5408Ala) c.16208A>C (p.Glu5403Ala) c.16124A>C (p.Glu5375Ala) c.9422A>C (p.Glu3141Ala) c.9401A>C (p.Glu3134Ala) n.16299A>C | |
5 | g.90823511A>G | CA360425609 | ADGRV1 | c.16283A>G (p.Glu5428Gly) c.5237A>G (p.Glu1746Gly) n.3550A>G c.265+147302A>G (n.265+147302A>G) n.128+1329A>G c.2693A>G (p.Glu898Gly) c.3266A>G (p.Glu1089Gly) n.16296A>G c.16280A>G (p.Glu5427Gly) c.16202A>G (p.Glu5401Gly) c.13586A>G (p.Glu4529Gly) c.16304A>G (p.Glu5435Gly) c.16301A>G (p.Glu5434Gly) c.16223A>G (p.Glu5408Gly) c.16208A>G (p.Glu5403Gly) c.16124A>G (p.Glu5375Gly) c.9422A>G (p.Glu3141Gly) c.9401A>G (p.Glu3134Gly) n.16299A>G | |
5 | g.90823511A>T | CA360425610 | ADGRV1 | c.16283A>T (p.Glu5428Val) c.5237A>T (p.Glu1746Val) n.3550A>T c.265+147302A>T (n.265+147302A>T) n.128+1329A>T c.2693A>T (p.Glu898Val) c.3266A>T (p.Glu1089Val) n.16296A>T c.16280A>T (p.Glu5427Val) c.16202A>T (p.Glu5401Val) c.13586A>T (p.Glu4529Val) c.16304A>T (p.Glu5435Val) c.16301A>T (p.Glu5434Val) c.16223A>T (p.Glu5408Val) c.16208A>T (p.Glu5403Val) c.16124A>T (p.Glu5375Val) c.9422A>T (p.Glu3141Val) c.9401A>T (p.Glu3134Val) n.16299A>T | ClinVar dbSNP |
5 | g.90823512G>A | CA445436572 | ADGRV1 | c.16284G>A (p.Glu5428=) c.5238G>A (p.Glu1746=) n.3551G>A c.265+147303G>A (n.265+147303G>A) n.128+1330G>A c.2694G>A (p.Glu898=) c.3267G>A (p.Glu1089=) n.16297G>A c.16281G>A (p.Glu5427=) c.16203G>A (p.Glu5401=) c.13587G>A (p.Glu4529=) c.16305G>A (p.Glu5435=) c.16302G>A (p.Glu5434=) c.16224G>A (p.Glu5408=) c.16209G>A (p.Glu5403=) c.16125G>A (p.Glu5375=) c.9423G>A (p.Glu3141=) c.9402G>A (p.Glu3134=) n.16300G>A | gnomAD v4 |
5 | g.90823512G>C | CA360425611 | ADGRV1 | c.16284G>C (p.Glu5428Asp) c.5238G>C (p.Glu1746Asp) n.3551G>C c.265+147303G>C (n.265+147303G>C) n.128+1330G>C c.2694G>C (p.Glu898Asp) c.3267G>C (p.Glu1089Asp) n.16297G>C c.16281G>C (p.Glu5427Asp) c.16203G>C (p.Glu5401Asp) c.13587G>C (p.Glu4529Asp) c.16305G>C (p.Glu5435Asp) c.16302G>C (p.Glu5434Asp) c.16224G>C (p.Glu5408Asp) c.16209G>C (p.Glu5403Asp) c.16125G>C (p.Glu5375Asp) c.9423G>C (p.Glu3141Asp) c.9402G>C (p.Glu3134Asp) n.16300G>C | |
5 | g.90823512G>T | CA360425612 | ADGRV1 | c.16284G>T (p.Glu5428Asp) c.5238G>T (p.Glu1746Asp) n.3551G>T c.265+147303G>T (n.265+147303G>T) n.128+1330G>T c.2694G>T (p.Glu898Asp) c.3267G>T (p.Glu1089Asp) n.16297G>T c.16281G>T (p.Glu5427Asp) c.16203G>T (p.Glu5401Asp) c.13587G>T (p.Glu4529Asp) c.16305G>T (p.Glu5435Asp) c.16302G>T (p.Glu5434Asp) c.16224G>T (p.Glu5408Asp) c.16209G>T (p.Glu5403Asp) c.16125G>T (p.Glu5375Asp) c.9423G>T (p.Glu3141Asp) c.9402G>T (p.Glu3134Asp) n.16300G>T | |
5 | g.90823513G>A | CA176242 | ADGRV1 | c.16285G>A (p.Glu5429Lys) c.5239G>A (p.Glu1747Lys) n.3552G>A c.265+147304G>A (n.265+147304G>A) n.128+1331G>A c.2695G>A (p.Glu899Lys) c.3268G>A (p.Glu1090Lys) n.16298G>A c.16282G>A (p.Glu5428Lys) c.16204G>A (p.Glu5402Lys) c.13588G>A (p.Glu4530Lys) c.16306G>A (p.Glu5436Lys) c.16303G>A (p.Glu5435Lys) c.16225G>A (p.Glu5409Lys) c.16210G>A (p.Glu5404Lys) c.16126G>A (p.Glu5376Lys) c.9424G>A (p.Glu3142Lys) c.9403G>A (p.Glu3135Lys) n.16301G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823513G>C | CA3342107 | ADGRV1 | c.16285G>C (p.Glu5429Gln) c.5239G>C (p.Glu1747Gln) n.3552G>C c.265+147304G>C (n.265+147304G>C) n.128+1331G>C c.2695G>C (p.Glu899Gln) c.3268G>C (p.Glu1090Gln) n.16298G>C c.16282G>C (p.Glu5428Gln) c.16204G>C (p.Glu5402Gln) c.13588G>C (p.Glu4530Gln) c.16306G>C (p.Glu5436Gln) c.16303G>C (p.Glu5435Gln) c.16225G>C (p.Glu5409Gln) c.16210G>C (p.Glu5404Gln) c.16126G>C (p.Glu5376Gln) c.9424G>C (p.Glu3142Gln) c.9403G>C (p.Glu3135Gln) n.16301G>C | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.90823513G= | CA1562918285 | ADGRV1 | c.16285G= (p.Glu5429=) c.5239G= (p.Glu1747=) n.3552G= c.265+147304G= (n.265+147304G=) n.128+1331G= c.2695G= (p.Glu899=) c.3268G= (p.Glu1090=) n.16298G= c.16282G= (p.Glu5428=) c.16204G= (p.Glu5402=) c.13588G= (p.Glu4530=) c.16306G= (p.Glu5436=) c.16303G= (p.Glu5435=) c.16225G= (p.Glu5409=) c.16210G= (p.Glu5404=) c.16126G= (p.Glu5376=) c.9424G= (p.Glu3142=) c.9403G= (p.Glu3135=) n.16301G= | |
5 | g.90823513G>T | CA360425613 | ADGRV1 | c.16285G>T (p.Glu5429Ter) c.5239G>T (p.Glu1747Ter) n.3552G>T c.265+147304G>T (n.265+147304G>T) n.128+1331G>T c.2695G>T (p.Glu899Ter) c.3268G>T (p.Glu1090Ter) n.16298G>T c.16282G>T (p.Glu5428Ter) c.16204G>T (p.Glu5402Ter) c.13588G>T (p.Glu4530Ter) c.16306G>T (p.Glu5436Ter) c.16303G>T (p.Glu5435Ter) c.16225G>T (p.Glu5409Ter) c.16210G>T (p.Glu5404Ter) c.16126G>T (p.Glu5376Ter) c.9424G>T (p.Glu3142Ter) c.9403G>T (p.Glu3135Ter) n.16301G>T | |
5 | g.90823514A>C | CA360425614 | ADGRV1 | c.16286A>C (p.Glu5429Ala) c.5240A>C (p.Glu1747Ala) n.3553A>C c.265+147305A>C (n.265+147305A>C) n.128+1332A>C c.2696A>C (p.Glu899Ala) c.3269A>C (p.Glu1090Ala) n.16299A>C c.16283A>C (p.Glu5428Ala) c.16205A>C (p.Glu5402Ala) c.13589A>C (p.Glu4530Ala) c.16307A>C (p.Glu5436Ala) c.16304A>C (p.Glu5435Ala) c.16226A>C (p.Glu5409Ala) c.16211A>C (p.Glu5404Ala) c.16127A>C (p.Glu5376Ala) c.9425A>C (p.Glu3142Ala) c.9404A>C (p.Glu3135Ala) n.16302A>C | |
5 | g.90823514A>G | CA360425615 | ADGRV1 | c.16286A>G (p.Glu5429Gly) c.5240A>G (p.Glu1747Gly) n.3553A>G c.265+147305A>G (n.265+147305A>G) n.128+1332A>G c.2696A>G (p.Glu899Gly) c.3269A>G (p.Glu1090Gly) n.16299A>G c.16283A>G (p.Glu5428Gly) c.16205A>G (p.Glu5402Gly) c.13589A>G (p.Glu4530Gly) c.16307A>G (p.Glu5436Gly) c.16304A>G (p.Glu5435Gly) c.16226A>G (p.Glu5409Gly) c.16211A>G (p.Glu5404Gly) c.16127A>G (p.Glu5376Gly) c.9425A>G (p.Glu3142Gly) c.9404A>G (p.Glu3135Gly) n.16302A>G | |
5 | g.90823514A>T | CA360425616 | ADGRV1 | c.16286A>T (p.Glu5429Val) c.5240A>T (p.Glu1747Val) n.3553A>T c.265+147305A>T (n.265+147305A>T) n.128+1332A>T c.2696A>T (p.Glu899Val) c.3269A>T (p.Glu1090Val) n.16299A>T c.16283A>T (p.Glu5428Val) c.16205A>T (p.Glu5402Val) c.13589A>T (p.Glu4530Val) c.16307A>T (p.Glu5436Val) c.16304A>T (p.Glu5435Val) c.16226A>T (p.Glu5409Val) c.16211A>T (p.Glu5404Val) c.16127A>T (p.Glu5376Val) c.9425A>T (p.Glu3142Val) c.9404A>T (p.Glu3135Val) n.16302A>T | |
5 | g.90823515A>C | CA360425618 | ADGRV1 | c.16287A>C (p.Glu5429Asp) c.5241A>C (p.Glu1747Asp) n.3554A>C c.265+147306A>C (n.265+147306A>C) n.128+1333A>C c.2697A>C (p.Glu899Asp) c.3270A>C (p.Glu1090Asp) n.16300A>C c.16284A>C (p.Glu5428Asp) c.16206A>C (p.Glu5402Asp) c.13590A>C (p.Glu4530Asp) c.16308A>C (p.Glu5436Asp) c.16305A>C (p.Glu5435Asp) c.16227A>C (p.Glu5409Asp) c.16212A>C (p.Glu5404Asp) c.16128A>C (p.Glu5376Asp) c.9426A>C (p.Glu3142Asp) c.9405A>C (p.Glu3135Asp) n.16303A>C | |
5 | g.90823515A>G | CA445436573 | ADGRV1 | c.16287A>G (p.Glu5429=) c.5241A>G (p.Glu1747=) n.3554A>G c.265+147306A>G (n.265+147306A>G) n.128+1333A>G c.2697A>G (p.Glu899=) c.3270A>G (p.Glu1090=) n.16300A>G c.16284A>G (p.Glu5428=) c.16206A>G (p.Glu5402=) c.13590A>G (p.Glu4530=) c.16308A>G (p.Glu5436=) c.16305A>G (p.Glu5435=) c.16227A>G (p.Glu5409=) c.16212A>G (p.Glu5404=) c.16128A>G (p.Glu5376=) c.9426A>G (p.Glu3142=) c.9405A>G (p.Glu3135=) n.16303A>G | gnomAD v4 |
5 | g.90823515A>T | CA360425617 | ADGRV1 | c.16287A>T (p.Glu5429Asp) c.5241A>T (p.Glu1747Asp) n.3554A>T c.265+147306A>T (n.265+147306A>T) n.128+1333A>T c.2697A>T (p.Glu899Asp) c.3270A>T (p.Glu1090Asp) n.16300A>T c.16284A>T (p.Glu5428Asp) c.16206A>T (p.Glu5402Asp) c.13590A>T (p.Glu4530Asp) c.16308A>T (p.Glu5436Asp) c.16305A>T (p.Glu5435Asp) c.16227A>T (p.Glu5409Asp) c.16212A>T (p.Glu5404Asp) c.16128A>T (p.Glu5376Asp) c.9426A>T (p.Glu3142Asp) c.9405A>T (p.Glu3135Asp) n.16303A>T | |
5 | g.90823516C>A | CA360425619 | ADGRV1 | c.16288C>A (p.Leu5430Ile) c.5242C>A (p.Leu1748Ile) n.3555C>A c.265+147307C>A (n.265+147307C>A) n.128+1334C>A c.2698C>A (p.Leu900Ile) c.3271C>A (p.Leu1091Ile) n.16301C>A c.16285C>A (p.Leu5429Ile) c.16207C>A (p.Leu5403Ile) c.13591C>A (p.Leu4531Ile) c.16309C>A (p.Leu5437Ile) c.16306C>A (p.Leu5436Ile) c.16228C>A (p.Leu5410Ile) c.16213C>A (p.Leu5405Ile) c.16129C>A (p.Leu5377Ile) c.9427C>A (p.Leu3143Ile) c.9406C>A (p.Leu3136Ile) n.16304C>A | |
5 | g.90823516C= | CA1562918286 | ADGRV1 | c.16288C= (p.Leu5430=) c.5242C= (p.Leu1748=) n.3555C= c.265+147307C= (n.265+147307C=) n.128+1334C= c.2698C= (p.Leu900=) c.3271C= (p.Leu1091=) n.16301C= c.16285C= (p.Leu5429=) c.16207C= (p.Leu5403=) c.13591C= (p.Leu4531=) c.16309C= (p.Leu5437=) c.16306C= (p.Leu5436=) c.16228C= (p.Leu5410=) c.16213C= (p.Leu5405=) c.16129C= (p.Leu5377=) c.9427C= (p.Leu3143=) c.9406C= (p.Leu3136=) n.16304C= | |
5 | g.90823516C>G | CA360425620 | ADGRV1 | c.16288C>G (p.Leu5430Val) c.5242C>G (p.Leu1748Val) n.3555C>G c.265+147307C>G (n.265+147307C>G) n.128+1334C>G c.2698C>G (p.Leu900Val) c.3271C>G (p.Leu1091Val) n.16301C>G c.16285C>G (p.Leu5429Val) c.16207C>G (p.Leu5403Val) c.13591C>G (p.Leu4531Val) c.16309C>G (p.Leu5437Val) c.16306C>G (p.Leu5436Val) c.16228C>G (p.Leu5410Val) c.16213C>G (p.Leu5405Val) c.16129C>G (p.Leu5377Val) c.9427C>G (p.Leu3143Val) c.9406C>G (p.Leu3136Val) n.16304C>G | ClinVar |
5 | g.90823516C>T | CA3342108 | ADGRV1 | c.16288C>T (p.Leu5430Phe) c.5242C>T (p.Leu1748Phe) n.3555C>T c.265+147307C>T (n.265+147307C>T) n.128+1334C>T c.2698C>T (p.Leu900Phe) c.3271C>T (p.Leu1091Phe) n.16301C>T c.16285C>T (p.Leu5429Phe) c.16207C>T (p.Leu5403Phe) c.13591C>T (p.Leu4531Phe) c.16309C>T (p.Leu5437Phe) c.16306C>T (p.Leu5436Phe) c.16228C>T (p.Leu5410Phe) c.16213C>T (p.Leu5405Phe) c.16129C>T (p.Leu5377Phe) c.9427C>T (p.Leu3143Phe) c.9406C>T (p.Leu3136Phe) n.16304C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90823517T>A | CA360425621 | ADGRV1 | c.16289T>A (p.Leu5430His) c.5243T>A (p.Leu1748His) n.3556T>A c.265+147308T>A (n.265+147308T>A) n.128+1335T>A c.2699T>A (p.Leu900His) c.3272T>A (p.Leu1091His) n.16302T>A c.16286T>A (p.Leu5429His) c.16208T>A (p.Leu5403His) c.13592T>A (p.Leu4531His) c.16310T>A (p.Leu5437His) c.16307T>A (p.Leu5436His) c.16229T>A (p.Leu5410His) c.16214T>A (p.Leu5405His) c.16130T>A (p.Leu5377His) c.9428T>A (p.Leu3143His) c.9407T>A (p.Leu3136His) n.16305T>A | |
5 | g.90823517T>C | CA360425622 | ADGRV1 | c.16289T>C (p.Leu5430Pro) c.5243T>C (p.Leu1748Pro) n.3556T>C c.265+147308T>C (n.265+147308T>C) n.128+1335T>C c.2699T>C (p.Leu900Pro) c.3272T>C (p.Leu1091Pro) n.16302T>C c.16286T>C (p.Leu5429Pro) c.16208T>C (p.Leu5403Pro) c.13592T>C (p.Leu4531Pro) c.16310T>C (p.Leu5437Pro) c.16307T>C (p.Leu5436Pro) c.16229T>C (p.Leu5410Pro) c.16214T>C (p.Leu5405Pro) c.16130T>C (p.Leu5377Pro) c.9428T>C (p.Leu3143Pro) c.9407T>C (p.Leu3136Pro) n.16305T>C | |
5 | g.90823517T>G | CA360425623 | ADGRV1 | c.16289T>G (p.Leu5430Arg) c.5243T>G (p.Leu1748Arg) n.3556T>G c.265+147308T>G (n.265+147308T>G) n.128+1335T>G c.2699T>G (p.Leu900Arg) c.3272T>G (p.Leu1091Arg) n.16302T>G c.16286T>G (p.Leu5429Arg) c.16208T>G (p.Leu5403Arg) c.13592T>G (p.Leu4531Arg) c.16310T>G (p.Leu5437Arg) c.16307T>G (p.Leu5436Arg) c.16229T>G (p.Leu5410Arg) c.16214T>G (p.Leu5405Arg) c.16130T>G (p.Leu5377Arg) c.9428T>G (p.Leu3143Arg) c.9407T>G (p.Leu3136Arg) n.16305T>G | |
5 | g.90823518T>A | CA445436574 | ADGRV1 | c.16290T>A (p.Leu5430=) c.5244T>A (p.Leu1748=) n.3557T>A c.265+147309T>A (n.265+147309T>A) n.128+1336T>A c.2700T>A (p.Leu900=) c.3273T>A (p.Leu1091=) n.16303T>A c.16287T>A (p.Leu5429=) c.16209T>A (p.Leu5403=) c.13593T>A (p.Leu4531=) c.16311T>A (p.Leu5437=) c.16308T>A (p.Leu5436=) c.16230T>A (p.Leu5410=) c.16215T>A (p.Leu5405=) c.16131T>A (p.Leu5377=) c.9429T>A (p.Leu3143=) c.9408T>A (p.Leu3136=) n.16306T>A | |
5 | g.90823518T>C | CA445436575 | ADGRV1 | c.16290T>C (p.Leu5430=) c.5244T>C (p.Leu1748=) n.3557T>C c.265+147309T>C (n.265+147309T>C) n.128+1336T>C c.2700T>C (p.Leu900=) c.3273T>C (p.Leu1091=) n.16303T>C c.16287T>C (p.Leu5429=) c.16209T>C (p.Leu5403=) c.13593T>C (p.Leu4531=) c.16311T>C (p.Leu5437=) c.16308T>C (p.Leu5436=) c.16230T>C (p.Leu5410=) c.16215T>C (p.Leu5405=) c.16131T>C (p.Leu5377=) c.9429T>C (p.Leu3143=) c.9408T>C (p.Leu3136=) n.16306T>C | |
5 | g.90823518T>G | CA445436576 | ADGRV1 | c.16290T>G (p.Leu5430=) c.5244T>G (p.Leu1748=) n.3557T>G c.265+147309T>G (n.265+147309T>G) n.128+1336T>G c.2700T>G (p.Leu900=) c.3273T>G (p.Leu1091=) n.16303T>G c.16287T>G (p.Leu5429=) c.16209T>G (p.Leu5403=) c.13593T>G (p.Leu4531=) c.16311T>G (p.Leu5437=) c.16308T>G (p.Leu5436=) c.16230T>G (p.Leu5410=) c.16215T>G (p.Leu5405=) c.16131T>G (p.Leu5377=) c.9429T>G (p.Leu3143=) c.9408T>G (p.Leu3136=) n.16306T>G | |
5 | g.90823519C>A | CA360425626 | ADGRV1 | c.16291C>A (p.Gln5431Lys) c.5245C>A (p.Gln1749Lys) n.3558C>A c.265+147310C>A (n.265+147310C>A) n.128+1337C>A c.2701C>A (p.Gln901Lys) c.3274C>A (p.Gln1092Lys) n.16304C>A c.16288C>A (p.Gln5430Lys) c.16210C>A (p.Gln5404Lys) c.13594C>A (p.Gln4532Lys) c.16312C>A (p.Gln5438Lys) c.16309C>A (p.Gln5437Lys) c.16231C>A (p.Gln5411Lys) c.16216C>A (p.Gln5406Lys) c.16132C>A (p.Gln5378Lys) c.9430C>A (p.Gln3144Lys) c.9409C>A (p.Gln3137Lys) n.16307C>A | |
5 | g.90823519C>G | CA360425624 | ADGRV1 | c.16291C>G (p.Gln5431Glu) c.5245C>G (p.Gln1749Glu) n.3558C>G c.265+147310C>G (n.265+147310C>G) n.128+1337C>G c.2701C>G (p.Gln901Glu) c.3274C>G (p.Gln1092Glu) n.16304C>G c.16288C>G (p.Gln5430Glu) c.16210C>G (p.Gln5404Glu) c.13594C>G (p.Gln4532Glu) c.16312C>G (p.Gln5438Glu) c.16309C>G (p.Gln5437Glu) c.16231C>G (p.Gln5411Glu) c.16216C>G (p.Gln5406Glu) c.16132C>G (p.Gln5378Glu) c.9430C>G (p.Gln3144Glu) c.9409C>G (p.Gln3137Glu) n.16307C>G | |
5 | g.90823519C>T | CA360425625 | ADGRV1 | c.16291C>T (p.Gln5431Ter) c.5245C>T (p.Gln1749Ter) n.3558C>T c.265+147310C>T (n.265+147310C>T) n.128+1337C>T c.2701C>T (p.Gln901Ter) c.3274C>T (p.Gln1092Ter) n.16304C>T c.16288C>T (p.Gln5430Ter) c.16210C>T (p.Gln5404Ter) c.13594C>T (p.Gln4532Ter) c.16312C>T (p.Gln5438Ter) c.16309C>T (p.Gln5437Ter) c.16231C>T (p.Gln5411Ter) c.16216C>T (p.Gln5406Ter) c.16132C>T (p.Gln5378Ter) c.9430C>T (p.Gln3144Ter) c.9409C>T (p.Gln3137Ter) n.16307C>T | gnomAD v4 |
5 | g.90823520A>C | CA360425627 | ADGRV1 | c.16292A>C (p.Gln5431Pro) c.5246A>C (p.Gln1749Pro) n.3559A>C c.265+147311A>C (n.265+147311A>C) n.128+1338A>C c.2702A>C (p.Gln901Pro) c.3275A>C (p.Gln1092Pro) n.16305A>C c.16289A>C (p.Gln5430Pro) c.16211A>C (p.Gln5404Pro) c.13595A>C (p.Gln4532Pro) c.16313A>C (p.Gln5438Pro) c.16310A>C (p.Gln5437Pro) c.16232A>C (p.Gln5411Pro) c.16217A>C (p.Gln5406Pro) c.16133A>C (p.Gln5378Pro) c.9431A>C (p.Gln3144Pro) c.9410A>C (p.Gln3137Pro) n.16308A>C | gnomAD v4 |
5 | g.90823520A>G | CA360425628 | ADGRV1 | c.16292A>G (p.Gln5431Arg) c.5246A>G (p.Gln1749Arg) n.3559A>G c.265+147311A>G (n.265+147311A>G) n.128+1338A>G c.2702A>G (p.Gln901Arg) c.3275A>G (p.Gln1092Arg) n.16305A>G c.16289A>G (p.Gln5430Arg) c.16211A>G (p.Gln5404Arg) c.13595A>G (p.Gln4532Arg) c.16313A>G (p.Gln5438Arg) c.16310A>G (p.Gln5437Arg) c.16232A>G (p.Gln5411Arg) c.16217A>G (p.Gln5406Arg) c.16133A>G (p.Gln5378Arg) c.9431A>G (p.Gln3144Arg) c.9410A>G (p.Gln3137Arg) n.16308A>G | |
5 | g.90823520A>T | CA360425629 | ADGRV1 | c.16292A>T (p.Gln5431Leu) c.5246A>T (p.Gln1749Leu) n.3559A>T c.265+147311A>T (n.265+147311A>T) n.128+1338A>T c.2702A>T (p.Gln901Leu) c.3275A>T (p.Gln1092Leu) n.16305A>T c.16289A>T (p.Gln5430Leu) c.16211A>T (p.Gln5404Leu) c.13595A>T (p.Gln4532Leu) c.16313A>T (p.Gln5438Leu) c.16310A>T (p.Gln5437Leu) c.16232A>T (p.Gln5411Leu) c.16217A>T (p.Gln5406Leu) c.16133A>T (p.Gln5378Leu) c.9431A>T (p.Gln3144Leu) c.9410A>T (p.Gln3137Leu) n.16308A>T | |
5 | g.90823521G>A | CA445436577 | ADGRV1 | c.16293G>A (p.Gln5431=) c.5247G>A (p.Gln1749=) n.3560G>A c.265+147312G>A (n.265+147312G>A) n.128+1339G>A c.2703G>A (p.Gln901=) c.3276G>A (p.Gln1092=) n.16306G>A c.16290G>A (p.Gln5430=) c.16212G>A (p.Gln5404=) c.13596G>A (p.Gln4532=) c.16314G>A (p.Gln5438=) c.16311G>A (p.Gln5437=) c.16233G>A (p.Gln5411=) c.16218G>A (p.Gln5406=) c.16134G>A (p.Gln5378=) c.9432G>A (p.Gln3144=) c.9411G>A (p.Gln3137=) n.16309G>A | ClinVar dbSNP gnomAD v4 |
5 | g.90823521G>C | CA360425630 | ADGRV1 | c.16293G>C (p.Gln5431His) c.5247G>C (p.Gln1749His) n.3560G>C c.265+147312G>C (n.265+147312G>C) n.128+1339G>C c.2703G>C (p.Gln901His) c.3276G>C (p.Gln1092His) n.16306G>C c.16290G>C (p.Gln5430His) c.16212G>C (p.Gln5404His) c.13596G>C (p.Gln4532His) c.16314G>C (p.Gln5438His) c.16311G>C (p.Gln5437His) c.16233G>C (p.Gln5411His) c.16218G>C (p.Gln5406His) c.16134G>C (p.Gln5378His) c.9432G>C (p.Gln3144His) c.9411G>C (p.Gln3137His) n.16309G>C | |
5 | g.90823521G= | CA1562918287 | ADGRV1 | c.16293G= (p.Gln5431=) c.5247G= (p.Gln1749=) n.3560G= c.265+147312G= (n.265+147312G=) n.128+1339G= c.2703G= (p.Gln901=) c.3276G= (p.Gln1092=) n.16306G= c.16290G= (p.Gln5430=) c.16212G= (p.Gln5404=) c.13596G= (p.Gln4532=) c.16314G= (p.Gln5438=) c.16311G= (p.Gln5437=) c.16233G= (p.Gln5411=) c.16218G= (p.Gln5406=) c.16134G= (p.Gln5378=) c.9432G= (p.Gln3144=) c.9411G= (p.Gln3137=) n.16309G= | |
5 | g.90823521G>T | CA3342109 | ADGRV1 | c.16293G>T (p.Gln5431His) c.5247G>T (p.Gln1749His) n.3560G>T c.265+147312G>T (n.265+147312G>T) n.128+1339G>T c.2703G>T (p.Gln901His) c.3276G>T (p.Gln1092His) n.16306G>T c.16290G>T (p.Gln5430His) c.16212G>T (p.Gln5404His) c.13596G>T (p.Gln4532His) c.16314G>T (p.Gln5438His) c.16311G>T (p.Gln5437His) c.16233G>T (p.Gln5411His) c.16218G>T (p.Gln5406His) c.16134G>T (p.Gln5378His) c.9432G>T (p.Gln3144His) c.9411G>T (p.Gln3137His) n.16309G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823522T>A | CA360425633 | ADGRV1 | c.16294T>A (p.Ser5432Thr) c.5248T>A (p.Ser1750Thr) n.3561T>A c.265+147313T>A (n.265+147313T>A) n.128+1340T>A c.2704T>A (p.Ser902Thr) c.3277T>A (p.Ser1093Thr) n.16307T>A c.16291T>A (p.Ser5431Thr) c.16213T>A (p.Ser5405Thr) c.13597T>A (p.Ser4533Thr) c.16315T>A (p.Ser5439Thr) c.16312T>A (p.Ser5438Thr) c.16234T>A (p.Ser5412Thr) c.16219T>A (p.Ser5407Thr) c.16135T>A (p.Ser5379Thr) c.9433T>A (p.Ser3145Thr) c.9412T>A (p.Ser3138Thr) n.16310T>A | |
5 | g.90823522T>C | CA360425631 | ADGRV1 | c.16294T>C (p.Ser5432Pro) c.5248T>C (p.Ser1750Pro) n.3561T>C c.265+147313T>C (n.265+147313T>C) n.128+1340T>C c.2704T>C (p.Ser902Pro) c.3277T>C (p.Ser1093Pro) n.16307T>C c.16291T>C (p.Ser5431Pro) c.16213T>C (p.Ser5405Pro) c.13597T>C (p.Ser4533Pro) c.16315T>C (p.Ser5439Pro) c.16312T>C (p.Ser5438Pro) c.16234T>C (p.Ser5412Pro) c.16219T>C (p.Ser5407Pro) c.16135T>C (p.Ser5379Pro) c.9433T>C (p.Ser3145Pro) c.9412T>C (p.Ser3138Pro) n.16310T>C | |
5 | g.90823522T>G | CA360425632 | ADGRV1 | c.16294T>G (p.Ser5432Ala) c.5248T>G (p.Ser1750Ala) n.3561T>G c.265+147313T>G (n.265+147313T>G) n.128+1340T>G c.2704T>G (p.Ser902Ala) c.3277T>G (p.Ser1093Ala) n.16307T>G c.16291T>G (p.Ser5431Ala) c.16213T>G (p.Ser5405Ala) c.13597T>G (p.Ser4533Ala) c.16315T>G (p.Ser5439Ala) c.16312T>G (p.Ser5438Ala) c.16234T>G (p.Ser5412Ala) c.16219T>G (p.Ser5407Ala) c.16135T>G (p.Ser5379Ala) c.9433T>G (p.Ser3145Ala) c.9412T>G (p.Ser3138Ala) n.16310T>G | |
5 | g.90823523C>A | CA360425634 | ADGRV1 | c.16295C>A (p.Ser5432Tyr) c.5249C>A (p.Ser1750Tyr) n.3562C>A c.265+147314C>A (n.265+147314C>A) n.128+1341C>A c.2705C>A (p.Ser902Tyr) c.3278C>A (p.Ser1093Tyr) n.16308C>A c.16292C>A (p.Ser5431Tyr) c.16214C>A (p.Ser5405Tyr) c.13598C>A (p.Ser4533Tyr) c.16316C>A (p.Ser5439Tyr) c.16313C>A (p.Ser5438Tyr) c.16235C>A (p.Ser5412Tyr) c.16220C>A (p.Ser5407Tyr) c.16136C>A (p.Ser5379Tyr) c.9434C>A (p.Ser3145Tyr) c.9413C>A (p.Ser3138Tyr) n.16311C>A | |
5 | g.90823523C= | CA1562918288 | ADGRV1 | c.16295C= (p.Ser5432=) c.5249C= (p.Ser1750=) n.3562C= c.265+147314C= (n.265+147314C=) n.128+1341C= c.2705C= (p.Ser902=) c.3278C= (p.Ser1093=) n.16308C= c.16292C= (p.Ser5431=) c.16214C= (p.Ser5405=) c.13598C= (p.Ser4533=) c.16316C= (p.Ser5439=) c.16313C= (p.Ser5438=) c.16235C= (p.Ser5412=) c.16220C= (p.Ser5407=) c.16136C= (p.Ser5379=) c.9434C= (p.Ser3145=) c.9413C= (p.Ser3138=) n.16311C= | |
5 | g.90823523C>G | CA360425635 | ADGRV1 | c.16295C>G (p.Ser5432Cys) c.5249C>G (p.Ser1750Cys) n.3562C>G c.265+147314C>G (n.265+147314C>G) n.128+1341C>G c.2705C>G (p.Ser902Cys) c.3278C>G (p.Ser1093Cys) n.16308C>G c.16292C>G (p.Ser5431Cys) c.16214C>G (p.Ser5405Cys) c.13598C>G (p.Ser4533Cys) c.16316C>G (p.Ser5439Cys) c.16313C>G (p.Ser5438Cys) c.16235C>G (p.Ser5412Cys) c.16220C>G (p.Ser5407Cys) c.16136C>G (p.Ser5379Cys) c.9434C>G (p.Ser3145Cys) c.9413C>G (p.Ser3138Cys) n.16311C>G | |
5 | g.90823523C>T | CA3342110 | ADGRV1 | c.16295C>T (p.Ser5432Phe) c.5249C>T (p.Ser1750Phe) n.3562C>T c.265+147314C>T (n.265+147314C>T) n.128+1341C>T c.2705C>T (p.Ser902Phe) c.3278C>T (p.Ser1093Phe) n.16308C>T c.16292C>T (p.Ser5431Phe) c.16214C>T (p.Ser5405Phe) c.13598C>T (p.Ser4533Phe) c.16316C>T (p.Ser5439Phe) c.16313C>T (p.Ser5438Phe) c.16235C>T (p.Ser5412Phe) c.16220C>T (p.Ser5407Phe) c.16136C>T (p.Ser5379Phe) c.9434C>T (p.Ser3145Phe) c.9413C>T (p.Ser3138Phe) n.16311C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.90823524T>A | CA445436580 | ADGRV1 | c.16296T>A (p.Ser5432=) c.5250T>A (p.Ser1750=) n.3563T>A c.265+147315T>A (n.265+147315T>A) n.128+1342T>A c.2706T>A (p.Ser902=) c.3279T>A (p.Ser1093=) n.16309T>A c.16293T>A (p.Ser5431=) c.16215T>A (p.Ser5405=) c.13599T>A (p.Ser4533=) c.16317T>A (p.Ser5439=) c.16314T>A (p.Ser5438=) c.16236T>A (p.Ser5412=) c.16221T>A (p.Ser5407=) c.16137T>A (p.Ser5379=) c.9435T>A (p.Ser3145=) c.9414T>A (p.Ser3138=) n.16312T>A | |
5 | g.90823524T>C | CA445436579 | ADGRV1 | c.16296T>C (p.Ser5432=) c.5250T>C (p.Ser1750=) n.3563T>C c.265+147315T>C (n.265+147315T>C) n.128+1342T>C c.2706T>C (p.Ser902=) c.3279T>C (p.Ser1093=) n.16309T>C c.16293T>C (p.Ser5431=) c.16215T>C (p.Ser5405=) c.13599T>C (p.Ser4533=) c.16317T>C (p.Ser5439=) c.16314T>C (p.Ser5438=) c.16236T>C (p.Ser5412=) c.16221T>C (p.Ser5407=) c.16137T>C (p.Ser5379=) c.9435T>C (p.Ser3145=) c.9414T>C (p.Ser3138=) n.16312T>C | |
5 | g.90823524T>G | CA445436578 | ADGRV1 | c.16296T>G (p.Ser5432=) c.5250T>G (p.Ser1750=) n.3563T>G c.265+147315T>G (n.265+147315T>G) n.128+1342T>G c.2706T>G (p.Ser902=) c.3279T>G (p.Ser1093=) n.16309T>G c.16293T>G (p.Ser5431=) c.16215T>G (p.Ser5405=) c.13599T>G (p.Ser4533=) c.16317T>G (p.Ser5439=) c.16314T>G (p.Ser5438=) c.16236T>G (p.Ser5412=) c.16221T>G (p.Ser5407=) c.16137T>G (p.Ser5379=) c.9435T>G (p.Ser3145=) c.9414T>G (p.Ser3138=) n.16312T>G | |
5 | g.90823527_90823528del | CA2674577103 | ADGRV1 | c.16299_16300del (p.Ser5434ArgfsTer17) c.5253_5254del (p.Ser1752ArgfsTer17) n.3566_3567del c.265+147318_265+147319del (n.265+147318_265+147319del) n.128+1345_128+1346del c.2709_2710del (p.Ser904ArgfsTer17) c.3282_3283del (p.Ser1095ArgfsTer17) n.16312_16313del c.16296_16297del (p.Ser5433ArgfsTer17) c.16218_16219del (p.Ser5407ArgfsTer17) c.13602_13603del (p.Ser4535ArgfsTer17) c.16320_16321del (p.Ser5441ArgfsTer17) c.16317_16318del (p.Ser5440ArgfsTer17) c.16239_16240del (p.Ser5414ArgfsTer17) c.16224_16225del (p.Ser5409ArgfsTer17) c.16140_16141del (p.Ser5381ArgfsTer17) c.9438_9439del (p.Ser3147ArgfsTer17) c.9417_9418del (p.Ser3140ArgfsTer17) n.16315_16316del | gnomAD v4 |
5 | g.90823525G>A | CA360425636 | ADGRV1 | c.16297G>A (p.Val5433Met) c.5251G>A (p.Val1751Met) n.3564G>A c.265+147316G>A (n.265+147316G>A) n.128+1343G>A c.2707G>A (p.Val903Met) c.3280G>A (p.Val1094Met) n.16310G>A c.16294G>A (p.Val5432Met) c.16216G>A (p.Val5406Met) c.13600G>A (p.Val4534Met) c.16318G>A (p.Val5440Met) c.16315G>A (p.Val5439Met) c.16237G>A (p.Val5413Met) c.16222G>A (p.Val5408Met) c.16138G>A (p.Val5380Met) c.9436G>A (p.Val3146Met) c.9415G>A (p.Val3139Met) n.16313G>A | |
5 | g.90823525G>C | CA360425637 | ADGRV1 | c.16297G>C (p.Val5433Leu) c.5251G>C (p.Val1751Leu) n.3564G>C c.265+147316G>C (n.265+147316G>C) n.128+1343G>C c.2707G>C (p.Val903Leu) c.3280G>C (p.Val1094Leu) n.16310G>C c.16294G>C (p.Val5432Leu) c.16216G>C (p.Val5406Leu) c.13600G>C (p.Val4534Leu) c.16318G>C (p.Val5440Leu) c.16315G>C (p.Val5439Leu) c.16237G>C (p.Val5413Leu) c.16222G>C (p.Val5408Leu) c.16138G>C (p.Val5380Leu) c.9436G>C (p.Val3146Leu) c.9415G>C (p.Val3139Leu) n.16313G>C | gnomAD v4 |
5 | g.90823525G>T | CA360425638 | ADGRV1 | c.16297G>T (p.Val5433Leu) c.5251G>T (p.Val1751Leu) n.3564G>T c.265+147316G>T (n.265+147316G>T) n.128+1343G>T c.2707G>T (p.Val903Leu) c.3280G>T (p.Val1094Leu) n.16310G>T c.16294G>T (p.Val5432Leu) c.16216G>T (p.Val5406Leu) c.13600G>T (p.Val4534Leu) c.16318G>T (p.Val5440Leu) c.16315G>T (p.Val5439Leu) c.16237G>T (p.Val5413Leu) c.16222G>T (p.Val5408Leu) c.16138G>T (p.Val5380Leu) c.9436G>T (p.Val3146Leu) c.9415G>T (p.Val3139Leu) n.16313G>T | |
5 | g.90823526T>A | CA360425639 | ADGRV1 | c.16298T>A (p.Val5433Glu) c.5252T>A (p.Val1751Glu) n.3565T>A c.265+147317T>A (n.265+147317T>A) n.128+1344T>A c.2708T>A (p.Val903Glu) c.3281T>A (p.Val1094Glu) n.16311T>A c.16295T>A (p.Val5432Glu) c.16217T>A (p.Val5406Glu) c.13601T>A (p.Val4534Glu) c.16319T>A (p.Val5440Glu) c.16316T>A (p.Val5439Glu) c.16238T>A (p.Val5413Glu) c.16223T>A (p.Val5408Glu) c.16139T>A (p.Val5380Glu) c.9437T>A (p.Val3146Glu) c.9416T>A (p.Val3139Glu) n.16314T>A | |
5 | g.90823526T>C | CA360425640 | ADGRV1 | c.16298T>C (p.Val5433Ala) c.5252T>C (p.Val1751Ala) n.3565T>C c.265+147317T>C (n.265+147317T>C) n.128+1344T>C c.2708T>C (p.Val903Ala) c.3281T>C (p.Val1094Ala) n.16311T>C c.16295T>C (p.Val5432Ala) c.16217T>C (p.Val5406Ala) c.13601T>C (p.Val4534Ala) c.16319T>C (p.Val5440Ala) c.16316T>C (p.Val5439Ala) c.16238T>C (p.Val5413Ala) c.16223T>C (p.Val5408Ala) c.16139T>C (p.Val5380Ala) c.9437T>C (p.Val3146Ala) c.9416T>C (p.Val3139Ala) n.16314T>C | |
5 | g.90823526T>G | CA360425641 | ADGRV1 | c.16298T>G (p.Val5433Gly) c.5252T>G (p.Val1751Gly) n.3565T>G c.265+147317T>G (n.265+147317T>G) n.128+1344T>G c.2708T>G (p.Val903Gly) c.3281T>G (p.Val1094Gly) n.16311T>G c.16295T>G (p.Val5432Gly) c.16217T>G (p.Val5406Gly) c.13601T>G (p.Val4534Gly) c.16319T>G (p.Val5440Gly) c.16316T>G (p.Val5439Gly) c.16238T>G (p.Val5413Gly) c.16223T>G (p.Val5408Gly) c.16139T>G (p.Val5380Gly) c.9437T>G (p.Val3146Gly) c.9416T>G (p.Val3139Gly) n.16314T>G | gnomAD v4 |
5 | g.90823527G>A | CA445436581 | ADGRV1 | c.16299G>A (p.Val5433=) c.5253G>A (p.Val1751=) n.3566G>A c.265+147318G>A (n.265+147318G>A) n.128+1345G>A c.2709G>A (p.Val903=) c.3282G>A (p.Val1094=) n.16312G>A c.16296G>A (p.Val5432=) c.16218G>A (p.Val5406=) c.13602G>A (p.Val4534=) c.16320G>A (p.Val5440=) c.16317G>A (p.Val5439=) c.16239G>A (p.Val5413=) c.16224G>A (p.Val5408=) c.16140G>A (p.Val5380=) c.9438G>A (p.Val3146=) c.9417G>A (p.Val3139=) n.16315G>A | dbSNP |
5 | g.90823527G>C | CA445436582 | ADGRV1 | c.16299G>C (p.Val5433=) c.5253G>C (p.Val1751=) n.3566G>C c.265+147318G>C (n.265+147318G>C) n.128+1345G>C c.2709G>C (p.Val903=) c.3282G>C (p.Val1094=) n.16312G>C c.16296G>C (p.Val5432=) c.16218G>C (p.Val5406=) c.13602G>C (p.Val4534=) c.16320G>C (p.Val5440=) c.16317G>C (p.Val5439=) c.16239G>C (p.Val5413=) c.16224G>C (p.Val5408=) c.16140G>C (p.Val5380=) c.9438G>C (p.Val3146=) c.9417G>C (p.Val3139=) n.16315G>C | gnomAD v4 |
5 | g.90823527G= | CA1562918289 | ADGRV1 | c.16299G= (p.Val5433=) c.5253G= (p.Val1751=) n.3566G= c.265+147318G= (n.265+147318G=) n.128+1345G= c.2709G= (p.Val903=) c.3282G= (p.Val1094=) n.16312G= c.16296G= (p.Val5432=) c.16218G= (p.Val5406=) c.13602G= (p.Val4534=) c.16320G= (p.Val5440=) c.16317G= (p.Val5439=) c.16239G= (p.Val5413=) c.16224G= (p.Val5408=) c.16140G= (p.Val5380=) c.9438G= (p.Val3146=) c.9417G= (p.Val3139=) n.16315G= | |
5 | g.90823527G>T | CA445436583 | ADGRV1 | c.16299G>T (p.Val5433=) c.5253G>T (p.Val1751=) n.3566G>T c.265+147318G>T (n.265+147318G>T) n.128+1345G>T c.2709G>T (p.Val903=) c.3282G>T (p.Val1094=) n.16312G>T c.16296G>T (p.Val5432=) c.16218G>T (p.Val5406=) c.13602G>T (p.Val4534=) c.16320G>T (p.Val5440=) c.16317G>T (p.Val5439=) c.16239G>T (p.Val5413=) c.16224G>T (p.Val5408=) c.16140G>T (p.Val5380=) c.9438G>T (p.Val3146=) c.9417G>T (p.Val3139=) n.16315G>T | ClinVar |
5 | g.90823528T>A | CA360425642 | ADGRV1 | c.16300T>A (p.Ser5434Thr) c.5254T>A (p.Ser1752Thr) n.3567T>A c.265+147319T>A (n.265+147319T>A) n.128+1346T>A c.2710T>A (p.Ser904Thr) c.3283T>A (p.Ser1095Thr) n.16313T>A c.16297T>A (p.Ser5433Thr) c.16219T>A (p.Ser5407Thr) c.13603T>A (p.Ser4535Thr) c.16321T>A (p.Ser5441Thr) c.16318T>A (p.Ser5440Thr) c.16240T>A (p.Ser5414Thr) c.16225T>A (p.Ser5409Thr) c.16141T>A (p.Ser5381Thr) c.9439T>A (p.Ser3147Thr) c.9418T>A (p.Ser3140Thr) n.16316T>A | |
5 | g.90823528T>C | CA360425643 | ADGRV1 | c.16300T>C (p.Ser5434Pro) c.5254T>C (p.Ser1752Pro) n.3567T>C c.265+147319T>C (n.265+147319T>C) n.128+1346T>C c.2710T>C (p.Ser904Pro) c.3283T>C (p.Ser1095Pro) n.16313T>C c.16297T>C (p.Ser5433Pro) c.16219T>C (p.Ser5407Pro) c.13603T>C (p.Ser4535Pro) c.16321T>C (p.Ser5441Pro) c.16318T>C (p.Ser5440Pro) c.16240T>C (p.Ser5414Pro) c.16225T>C (p.Ser5409Pro) c.16141T>C (p.Ser5381Pro) c.9439T>C (p.Ser3147Pro) c.9418T>C (p.Ser3140Pro) n.16316T>C | |
5 | g.90823528T>G | CA360425644 | ADGRV1 | c.16300T>G (p.Ser5434Ala) c.5254T>G (p.Ser1752Ala) n.3567T>G c.265+147319T>G (n.265+147319T>G) n.128+1346T>G c.2710T>G (p.Ser904Ala) c.3283T>G (p.Ser1095Ala) n.16313T>G c.16297T>G (p.Ser5433Ala) c.16219T>G (p.Ser5407Ala) c.13603T>G (p.Ser4535Ala) c.16321T>G (p.Ser5441Ala) c.16318T>G (p.Ser5440Ala) c.16240T>G (p.Ser5414Ala) c.16225T>G (p.Ser5409Ala) c.16141T>G (p.Ser5381Ala) c.9439T>G (p.Ser3147Ala) c.9418T>G (p.Ser3140Ala) n.16316T>G | |
5 | g.90823529C>A | CA360425645 | ADGRV1 | c.16301C>A (p.Ser5434Ter) c.5255C>A (p.Ser1752Ter) n.3568C>A c.265+147320C>A (n.265+147320C>A) n.128+1347C>A c.2711C>A (p.Ser904Ter) c.3284C>A (p.Ser1095Ter) n.16314C>A c.16298C>A (p.Ser5433Ter) c.16220C>A (p.Ser5407Ter) c.13604C>A (p.Ser4535Ter) c.16322C>A (p.Ser5441Ter) c.16319C>A (p.Ser5440Ter) c.16241C>A (p.Ser5414Ter) c.16226C>A (p.Ser5409Ter) c.16142C>A (p.Ser5381Ter) c.9440C>A (p.Ser3147Ter) c.9419C>A (p.Ser3140Ter) n.16317C>A | |
5 | g.90823529C>G | CA360425647 | ADGRV1 | c.16301C>G (p.Ser5434Ter) c.5255C>G (p.Ser1752Ter) n.3568C>G c.265+147320C>G (n.265+147320C>G) n.128+1347C>G c.2711C>G (p.Ser904Ter) c.3284C>G (p.Ser1095Ter) n.16314C>G c.16298C>G (p.Ser5433Ter) c.16220C>G (p.Ser5407Ter) c.13604C>G (p.Ser4535Ter) c.16322C>G (p.Ser5441Ter) c.16319C>G (p.Ser5440Ter) c.16241C>G (p.Ser5414Ter) c.16226C>G (p.Ser5409Ter) c.16142C>G (p.Ser5381Ter) c.9440C>G (p.Ser3147Ter) c.9419C>G (p.Ser3140Ter) n.16317C>G | |
5 | g.90823529C>T | CA360425646 | ADGRV1 | c.16301C>T (p.Ser5434Leu) c.5255C>T (p.Ser1752Leu) n.3568C>T c.265+147320C>T (n.265+147320C>T) n.128+1347C>T c.2711C>T (p.Ser904Leu) c.3284C>T (p.Ser1095Leu) n.16314C>T c.16298C>T (p.Ser5433Leu) c.16220C>T (p.Ser5407Leu) c.13604C>T (p.Ser4535Leu) c.16322C>T (p.Ser5441Leu) c.16319C>T (p.Ser5440Leu) c.16241C>T (p.Ser5414Leu) c.16226C>T (p.Ser5409Leu) c.16142C>T (p.Ser5381Leu) c.9440C>T (p.Ser3147Leu) c.9419C>T (p.Ser3140Leu) n.16317C>T | |
5 | g.90823530A= | CA1562918290 | ADGRV1 | c.16302A= (p.Ser5434=) c.5256A= (p.Ser1752=) n.3569A= c.265+147321A= (n.265+147321A=) n.128+1348A= c.2712A= (p.Ser904=) c.3285A= (p.Ser1095=) n.16315A= c.16299A= (p.Ser5433=) c.16221A= (p.Ser5407=) c.13605A= (p.Ser4535=) c.16323A= (p.Ser5441=) c.16320A= (p.Ser5440=) c.16242A= (p.Ser5414=) c.16227A= (p.Ser5409=) c.16143A= (p.Ser5381=) c.9441A= (p.Ser3147=) c.9420A= (p.Ser3140=) n.16318A= | |
5 | g.90823530A>C | CA122804125 | ADGRV1 | c.16302A>C (p.Ser5434=) c.5256A>C (p.Ser1752=) n.3569A>C c.265+147321A>C (n.265+147321A>C) n.128+1348A>C c.2712A>C (p.Ser904=) c.3285A>C (p.Ser1095=) n.16315A>C c.16299A>C (p.Ser5433=) c.16221A>C (p.Ser5407=) c.13605A>C (p.Ser4535=) c.16323A>C (p.Ser5441=) c.16320A>C (p.Ser5440=) c.16242A>C (p.Ser5414=) c.16227A>C (p.Ser5409=) c.16143A>C (p.Ser5381=) c.9441A>C (p.Ser3147=) c.9420A>C (p.Ser3140=) n.16318A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.90823530A>G | CA445436584 | ADGRV1 | c.16302A>G (p.Ser5434=) c.5256A>G (p.Ser1752=) n.3569A>G c.265+147321A>G (n.265+147321A>G) n.128+1348A>G c.2712A>G (p.Ser904=) c.3285A>G (p.Ser1095=) n.16315A>G c.16299A>G (p.Ser5433=) c.16221A>G (p.Ser5407=) c.13605A>G (p.Ser4535=) c.16323A>G (p.Ser5441=) c.16320A>G (p.Ser5440=) c.16242A>G (p.Ser5414=) c.16227A>G (p.Ser5409=) c.16143A>G (p.Ser5381=) c.9441A>G (p.Ser3147=) c.9420A>G (p.Ser3140=) n.16318A>G | dbSNP gnomAD v4 |
5 | g.90823530A>T | CA445436585 | ADGRV1 | c.16302A>T (p.Ser5434=) c.5256A>T (p.Ser1752=) n.3569A>T c.265+147321A>T (n.265+147321A>T) n.128+1348A>T c.2712A>T (p.Ser904=) c.3285A>T (p.Ser1095=) n.16315A>T c.16299A>T (p.Ser5433=) c.16221A>T (p.Ser5407=) c.13605A>T (p.Ser4535=) c.16323A>T (p.Ser5441=) c.16320A>T (p.Ser5440=) c.16242A>T (p.Ser5414=) c.16227A>T (p.Ser5409=) c.16143A>T (p.Ser5381=) c.9441A>T (p.Ser3147=) c.9420A>T (p.Ser3140=) n.16318A>T | |
5 | g.90823531G>A | CA360425648 | ADGRV1 | c.16303G>A (p.Gly5435Arg) c.5257G>A (p.Gly1753Arg) n.3570G>A c.265+147322G>A (n.265+147322G>A) n.128+1349G>A c.2713G>A (p.Gly905Arg) c.3286G>A (p.Gly1096Arg) n.16316G>A c.16300G>A (p.Gly5434Arg) c.16222G>A (p.Gly5408Arg) c.13606G>A (p.Gly4536Arg) c.16324G>A (p.Gly5442Arg) c.16321G>A (p.Gly5441Arg) c.16243G>A (p.Gly5415Arg) c.16228G>A (p.Gly5410Arg) c.16144G>A (p.Gly5382Arg) c.9442G>A (p.Gly3148Arg) c.9421G>A (p.Gly3141Arg) n.16319G>A | |
5 | g.90823531G>C | CA360425649 | ADGRV1 | c.16303G>C (p.Gly5435Arg) c.5257G>C (p.Gly1753Arg) n.3570G>C c.265+147322G>C (n.265+147322G>C) n.128+1349G>C c.2713G>C (p.Gly905Arg) c.3286G>C (p.Gly1096Arg) n.16316G>C c.16300G>C (p.Gly5434Arg) c.16222G>C (p.Gly5408Arg) c.13606G>C (p.Gly4536Arg) c.16324G>C (p.Gly5442Arg) c.16321G>C (p.Gly5441Arg) c.16243G>C (p.Gly5415Arg) c.16228G>C (p.Gly5410Arg) c.16144G>C (p.Gly5382Arg) c.9442G>C (p.Gly3148Arg) c.9421G>C (p.Gly3141Arg) n.16319G>C | gnomAD v4 COSMIC |
5 | g.90823531G>T | CA360425650 | ADGRV1 | c.16303G>T (p.Gly5435Trp) c.5257G>T (p.Gly1753Trp) n.3570G>T c.265+147322G>T (n.265+147322G>T) n.128+1349G>T c.2713G>T (p.Gly905Trp) c.3286G>T (p.Gly1096Trp) n.16316G>T c.16300G>T (p.Gly5434Trp) c.16222G>T (p.Gly5408Trp) c.13606G>T (p.Gly4536Trp) c.16324G>T (p.Gly5442Trp) c.16321G>T (p.Gly5441Trp) c.16243G>T (p.Gly5415Trp) c.16228G>T (p.Gly5410Trp) c.16144G>T (p.Gly5382Trp) c.9442G>T (p.Gly3148Trp) c.9421G>T (p.Gly3141Trp) n.16319G>T | |
5 | g.90823532G>A | CA360425651 | ADGRV1 | c.16304G>A (p.Gly5435Glu) c.5258G>A (p.Gly1753Glu) n.3571G>A c.265+147323G>A (n.265+147323G>A) n.128+1350G>A c.2714G>A (p.Gly905Glu) c.3287G>A (p.Gly1096Glu) n.16317G>A c.16301G>A (p.Gly5434Glu) c.16223G>A (p.Gly5408Glu) c.13607G>A (p.Gly4536Glu) c.16325G>A (p.Gly5442Glu) c.16322G>A (p.Gly5441Glu) c.16244G>A (p.Gly5415Glu) c.16229G>A (p.Gly5410Glu) c.16145G>A (p.Gly5382Glu) c.9443G>A (p.Gly3148Glu) c.9422G>A (p.Gly3141Glu) n.16320G>A | gnomAD v4 |
5 | g.90823532G>C | CA360425652 | ADGRV1 | c.16304G>C (p.Gly5435Ala) c.5258G>C (p.Gly1753Ala) n.3571G>C c.265+147323G>C (n.265+147323G>C) n.128+1350G>C c.2714G>C (p.Gly905Ala) c.3287G>C (p.Gly1096Ala) n.16317G>C c.16301G>C (p.Gly5434Ala) c.16223G>C (p.Gly5408Ala) c.13607G>C (p.Gly4536Ala) c.16325G>C (p.Gly5442Ala) c.16322G>C (p.Gly5441Ala) c.16244G>C (p.Gly5415Ala) c.16229G>C (p.Gly5410Ala) c.16145G>C (p.Gly5382Ala) c.9443G>C (p.Gly3148Ala) c.9422G>C (p.Gly3141Ala) n.16320G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.90823532G= | CA1562918291 | ADGRV1 | c.16304G= (p.Gly5435=) c.5258G= (p.Gly1753=) n.3571G= c.265+147323G= (n.265+147323G=) n.128+1350G= c.2714G= (p.Gly905=) c.3287G= (p.Gly1096=) n.16317G= c.16301G= (p.Gly5434=) c.16223G= (p.Gly5408=) c.13607G= (p.Gly4536=) c.16325G= (p.Gly5442=) c.16322G= (p.Gly5441=) c.16244G= (p.Gly5415=) c.16229G= (p.Gly5410=) c.16145G= (p.Gly5382=) c.9443G= (p.Gly3148=) c.9422G= (p.Gly3141=) n.16320G= | |
5 | g.90823532G>T | CA360425653 | ADGRV1 | c.16304G>T (p.Gly5435Val) c.5258G>T (p.Gly1753Val) n.3571G>T c.265+147323G>T (n.265+147323G>T) n.128+1350G>T c.2714G>T (p.Gly905Val) c.3287G>T (p.Gly1096Val) n.16317G>T c.16301G>T (p.Gly5434Val) c.16223G>T (p.Gly5408Val) c.13607G>T (p.Gly4536Val) c.16325G>T (p.Gly5442Val) c.16322G>T (p.Gly5441Val) c.16244G>T (p.Gly5415Val) c.16229G>T (p.Gly5410Val) c.16145G>T (p.Gly5382Val) c.9443G>T (p.Gly3148Val) c.9422G>T (p.Gly3141Val) n.16320G>T | |
5 | g.90823533G>A | CA122804127 | ADGRV1 | c.16305G>A (p.Gly5435=) c.5259G>A (p.Gly1753=) n.3572G>A c.265+147324G>A (n.265+147324G>A) n.128+1351G>A c.2715G>A (p.Gly905=) c.3288G>A (p.Gly1096=) n.16318G>A c.16302G>A (p.Gly5434=) c.16224G>A (p.Gly5408=) c.13608G>A (p.Gly4536=) c.16326G>A (p.Gly5442=) c.16323G>A (p.Gly5441=) c.16245G>A (p.Gly5415=) c.16230G>A (p.Gly5410=) c.16146G>A (p.Gly5382=) c.9444G>A (p.Gly3148=) c.9423G>A (p.Gly3141=) n.16321G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.90823533G>C | CA445436586 | ADGRV1 | c.16305G>C (p.Gly5435=) c.5259G>C (p.Gly1753=) n.3572G>C c.265+147324G>C (n.265+147324G>C) n.128+1351G>C c.2715G>C (p.Gly905=) c.3288G>C (p.Gly1096=) n.16318G>C c.16302G>C (p.Gly5434=) c.16224G>C (p.Gly5408=) c.13608G>C (p.Gly4536=) c.16326G>C (p.Gly5442=) c.16323G>C (p.Gly5441=) c.16245G>C (p.Gly5415=) c.16230G>C (p.Gly5410=) c.16146G>C (p.Gly5382=) c.9444G>C (p.Gly3148=) c.9423G>C (p.Gly3141=) n.16321G>C | ClinVar dbSNP gnomAD v4 |
5 | g.90823533G= | CA1562918292 | ADGRV1 | c.16305G= (p.Gly5435=) c.5259G= (p.Gly1753=) n.3572G= c.265+147324G= (n.265+147324G=) n.128+1351G= c.2715G= (p.Gly905=) c.3288G= (p.Gly1096=) n.16318G= c.16302G= (p.Gly5434=) c.16224G= (p.Gly5408=) c.13608G= (p.Gly4536=) c.16326G= (p.Gly5442=) c.16323G= (p.Gly5441=) c.16245G= (p.Gly5415=) c.16230G= (p.Gly5410=) c.16146G= (p.Gly5382=) c.9444G= (p.Gly3148=) c.9423G= (p.Gly3141=) n.16321G= | |
5 | g.90823533G>T | CA445436587 | ADGRV1 | c.16305G>T (p.Gly5435=) c.5259G>T (p.Gly1753=) n.3572G>T c.265+147324G>T (n.265+147324G>T) n.128+1351G>T c.2715G>T (p.Gly905=) c.3288G>T (p.Gly1096=) n.16318G>T c.16302G>T (p.Gly5434=) c.16224G>T (p.Gly5408=) c.13608G>T (p.Gly4536=) c.16326G>T (p.Gly5442=) c.16323G>T (p.Gly5441=) c.16245G>T (p.Gly5415=) c.16230G>T (p.Gly5410=) c.16146G>T (p.Gly5382=) c.9444G>T (p.Gly3148=) c.9423G>T (p.Gly3141=) n.16321G>T | gnomAD v4 |
5 | g.90823534A>C | CA360425656 | ADGRV1 | c.16306A>C (p.Thr5436Pro) c.5260A>C (p.Thr1754Pro) n.3573A>C c.265+147325A>C (n.265+147325A>C) n.128+1352A>C c.2716A>C (p.Thr906Pro) c.3289A>C (p.Thr1097Pro) n.16319A>C c.16303A>C (p.Thr5435Pro) c.16225A>C (p.Thr5409Pro) c.13609A>C (p.Thr4537Pro) c.16327A>C (p.Thr5443Pro) c.16324A>C (p.Thr5442Pro) c.16246A>C (p.Thr5416Pro) c.16231A>C (p.Thr5411Pro) c.16147A>C (p.Thr5383Pro) c.9445A>C (p.Thr3149Pro) c.9424A>C (p.Thr3142Pro) n.16322A>C | |
5 | g.90823534A>G | CA360425654 | ADGRV1 | c.16306A>G (p.Thr5436Ala) c.5260A>G (p.Thr1754Ala) n.3573A>G c.265+147325A>G (n.265+147325A>G) n.128+1352A>G c.2716A>G (p.Thr906Ala) c.3289A>G (p.Thr1097Ala) n.16319A>G c.16303A>G (p.Thr5435Ala) c.16225A>G (p.Thr5409Ala) c.13609A>G (p.Thr4537Ala) c.16327A>G (p.Thr5443Ala) c.16324A>G (p.Thr5442Ala) c.16246A>G (p.Thr5416Ala) c.16231A>G (p.Thr5411Ala) c.16147A>G (p.Thr5383Ala) c.9445A>G (p.Thr3149Ala) c.9424A>G (p.Thr3142Ala) n.16322A>G | |
5 | g.90823534A>T | CA360425655 | ADGRV1 | c.16306A>T (p.Thr5436Ser) c.5260A>T (p.Thr1754Ser) n.3573A>T c.265+147325A>T (n.265+147325A>T) n.128+1352A>T c.2716A>T (p.Thr906Ser) c.3289A>T (p.Thr1097Ser) n.16319A>T c.16303A>T (p.Thr5435Ser) c.16225A>T (p.Thr5409Ser) c.13609A>T (p.Thr4537Ser) c.16327A>T (p.Thr5443Ser) c.16324A>T (p.Thr5442Ser) c.16246A>T (p.Thr5416Ser) c.16231A>T (p.Thr5411Ser) c.16147A>T (p.Thr5383Ser) c.9445A>T (p.Thr3149Ser) c.9424A>T (p.Thr3142Ser) n.16322A>T | |
5 | g.90823535C>A | CA360425657 | ADGRV1 | c.16307C>A (p.Thr5436Asn) c.5261C>A (p.Thr1754Asn) n.3574C>A c.265+147326C>A (n.265+147326C>A) n.128+1353C>A c.2717C>A (p.Thr906Asn) c.3290C>A (p.Thr1097Asn) n.16320C>A c.16304C>A (p.Thr5435Asn) c.16226C>A (p.Thr5409Asn) c.13610C>A (p.Thr4537Asn) c.16328C>A (p.Thr5443Asn) c.16325C>A (p.Thr5442Asn) c.16247C>A (p.Thr5416Asn) c.16232C>A (p.Thr5411Asn) c.16148C>A (p.Thr5383Asn) c.9446C>A (p.Thr3149Asn) c.9425C>A (p.Thr3142Asn) n.16323C>A | |
5 | g.90823535C>G | CA360425658 | ADGRV1 | c.16307C>G (p.Thr5436Ser) c.5261C>G (p.Thr1754Ser) n.3574C>G c.265+147326C>G (n.265+147326C>G) n.128+1353C>G c.2717C>G (p.Thr906Ser) c.3290C>G (p.Thr1097Ser) n.16320C>G c.16304C>G (p.Thr5435Ser) c.16226C>G (p.Thr5409Ser) c.13610C>G (p.Thr4537Ser) c.16328C>G (p.Thr5443Ser) c.16325C>G (p.Thr5442Ser) c.16247C>G (p.Thr5416Ser) c.16232C>G (p.Thr5411Ser) c.16148C>G (p.Thr5383Ser) c.9446C>G (p.Thr3149Ser) c.9425C>G (p.Thr3142Ser) n.16323C>G | |
5 | g.90823535C>T | CA360425659 | ADGRV1 | c.16307C>T (p.Thr5436Ile) c.5261C>T (p.Thr1754Ile) n.3574C>T c.265+147326C>T (n.265+147326C>T) n.128+1353C>T c.2717C>T (p.Thr906Ile) c.3290C>T (p.Thr1097Ile) n.16320C>T c.16304C>T (p.Thr5435Ile) c.16226C>T (p.Thr5409Ile) c.13610C>T (p.Thr4537Ile) c.16328C>T (p.Thr5443Ile) c.16325C>T (p.Thr5442Ile) c.16247C>T (p.Thr5416Ile) c.16232C>T (p.Thr5411Ile) c.16148C>T (p.Thr5383Ile) c.9446C>T (p.Thr3149Ile) c.9425C>T (p.Thr3142Ile) n.16323C>T | gnomAD v4 |
5 | g.90823536C>A | CA228945 | ADGRV1 | c.16308C>A (p.Thr5436=) c.5262C>A (p.Thr1754=) n.3575C>A c.265+147327C>A (n.265+147327C>A) n.128+1354C>A c.2718C>A (p.Thr906=) c.3291C>A (p.Thr1097=) n.16321C>A c.16305C>A (p.Thr5435=) c.16227C>A (p.Thr5409=) c.13611C>A (p.Thr4537=) c.16329C>A (p.Thr5443=) c.16326C>A (p.Thr5442=) c.16248C>A (p.Thr5416=) c.16233C>A (p.Thr5411=) c.16149C>A (p.Thr5383=) c.9447C>A (p.Thr3149=) c.9426C>A (p.Thr3142=) n.16324C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823536C= | CA1562918293 | ADGRV1 | c.16308C= (p.Thr5436=) c.5262C= (p.Thr1754=) n.3575C= c.265+147327C= (n.265+147327C=) n.128+1354C= c.2718C= (p.Thr906=) c.3291C= (p.Thr1097=) n.16321C= c.16305C= (p.Thr5435=) c.16227C= (p.Thr5409=) c.13611C= (p.Thr4537=) c.16329C= (p.Thr5443=) c.16326C= (p.Thr5442=) c.16248C= (p.Thr5416=) c.16233C= (p.Thr5411=) c.16149C= (p.Thr5383=) c.9447C= (p.Thr3149=) c.9426C= (p.Thr3142=) n.16324C= | |
5 | g.90823536C>G | CA445436588 | ADGRV1 | c.16308C>G (p.Thr5436=) c.5262C>G (p.Thr1754=) n.3575C>G c.265+147327C>G (n.265+147327C>G) n.128+1354C>G c.2718C>G (p.Thr906=) c.3291C>G (p.Thr1097=) n.16321C>G c.16305C>G (p.Thr5435=) c.16227C>G (p.Thr5409=) c.13611C>G (p.Thr4537=) c.16329C>G (p.Thr5443=) c.16326C>G (p.Thr5442=) c.16248C>G (p.Thr5416=) c.16233C>G (p.Thr5411=) c.16149C>G (p.Thr5383=) c.9447C>G (p.Thr3149=) c.9426C>G (p.Thr3142=) n.16324C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.90823536C>T | CA3342111 | ADGRV1 | c.16308C>T (p.Thr5436=) c.5262C>T (p.Thr1754=) n.3575C>T c.265+147327C>T (n.265+147327C>T) n.128+1354C>T c.2718C>T (p.Thr906=) c.3291C>T (p.Thr1097=) n.16321C>T c.16305C>T (p.Thr5435=) c.16227C>T (p.Thr5409=) c.13611C>T (p.Thr4537=) c.16329C>T (p.Thr5443=) c.16326C>T (p.Thr5442=) c.16248C>T (p.Thr5416=) c.16233C>T (p.Thr5411=) c.16149C>T (p.Thr5383=) c.9447C>T (p.Thr3149=) c.9426C>T (p.Thr3142=) n.16324C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823537A= | CA1562918294 | ADGRV1 | c.16309A= (p.Thr5437=) c.5263A= (p.Thr1755=) n.3576A= c.265+147328A= (n.265+147328A=) n.128+1355A= c.2719A= (p.Thr907=) c.3292A= (p.Thr1098=) n.16322A= c.16306A= (p.Thr5436=) c.16228A= (p.Thr5410=) c.13612A= (p.Thr4538=) c.16330A= (p.Thr5444=) c.16327A= (p.Thr5443=) c.16249A= (p.Thr5417=) c.16234A= (p.Thr5412=) c.16150A= (p.Thr5384=) c.9448A= (p.Thr3150=) c.9427A= (p.Thr3143=) n.16325A= | |
5 | g.90823537A>C | CA360425661 | ADGRV1 | c.16309A>C (p.Thr5437Pro) c.5263A>C (p.Thr1755Pro) n.3576A>C c.265+147328A>C (n.265+147328A>C) n.128+1355A>C c.2719A>C (p.Thr907Pro) c.3292A>C (p.Thr1098Pro) n.16322A>C c.16306A>C (p.Thr5436Pro) c.16228A>C (p.Thr5410Pro) c.13612A>C (p.Thr4538Pro) c.16330A>C (p.Thr5444Pro) c.16327A>C (p.Thr5443Pro) c.16249A>C (p.Thr5417Pro) c.16234A>C (p.Thr5412Pro) c.16150A>C (p.Thr5384Pro) c.9448A>C (p.Thr3150Pro) c.9427A>C (p.Thr3143Pro) n.16325A>C | |
5 | g.90823537A>G | CA3342112 | ADGRV1 | c.16309A>G (p.Thr5437Ala) c.5263A>G (p.Thr1755Ala) n.3576A>G c.265+147328A>G (n.265+147328A>G) n.128+1355A>G c.2719A>G (p.Thr907Ala) c.3292A>G (p.Thr1098Ala) n.16322A>G c.16306A>G (p.Thr5436Ala) c.16228A>G (p.Thr5410Ala) c.13612A>G (p.Thr4538Ala) c.16330A>G (p.Thr5444Ala) c.16327A>G (p.Thr5443Ala) c.16249A>G (p.Thr5417Ala) c.16234A>G (p.Thr5412Ala) c.16150A>G (p.Thr5384Ala) c.9448A>G (p.Thr3150Ala) c.9427A>G (p.Thr3143Ala) n.16325A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90823537A>T | CA360425660 | ADGRV1 | c.16309A>T (p.Thr5437Ser) c.5263A>T (p.Thr1755Ser) n.3576A>T c.265+147328A>T (n.265+147328A>T) n.128+1355A>T c.2719A>T (p.Thr907Ser) c.3292A>T (p.Thr1098Ser) n.16322A>T c.16306A>T (p.Thr5436Ser) c.16228A>T (p.Thr5410Ser) c.13612A>T (p.Thr4538Ser) c.16330A>T (p.Thr5444Ser) c.16327A>T (p.Thr5443Ser) c.16249A>T (p.Thr5417Ser) c.16234A>T (p.Thr5412Ser) c.16150A>T (p.Thr5384Ser) c.9448A>T (p.Thr3150Ser) c.9427A>T (p.Thr3143Ser) n.16325A>T | |
5 | g.90823538del | CA2573140034 | ADGRV1 | c.16310del (p.Thr5437LysfsTer?) c.5264del (p.Thr1755LysfsTer?) n.3577del c.265+147329del (n.265+147329del) n.128+1356del c.2720del (p.Thr907LysfsTer?) c.3293del (p.Thr1098LysfsTer?) n.16323del c.16307del (p.Thr5436LysfsTer?) c.16229del (p.Thr5410LysfsTer?) c.13613del (p.Thr4538LysfsTer?) c.16331del (p.Thr5444LysfsTer?) c.16328del (p.Thr5443LysfsTer?) c.16250del (p.Thr5417LysfsTer?) c.16235del (p.Thr5412LysfsTer?) c.16151del (p.Thr5384LysfsTer?) c.9449del (p.Thr3150LysfsTer?) c.9428del (p.Thr3143LysfsTer?) n.16326del | ClinVar dbSNP |
5 | g.90823538C>A | CA360425662 | ADGRV1 | c.16310C>A (p.Thr5437Lys) c.5264C>A (p.Thr1755Lys) n.3577C>A c.265+147329C>A (n.265+147329C>A) n.128+1356C>A c.2720C>A (p.Thr907Lys) c.3293C>A (p.Thr1098Lys) n.16323C>A c.16307C>A (p.Thr5436Lys) c.16229C>A (p.Thr5410Lys) c.13613C>A (p.Thr4538Lys) c.16331C>A (p.Thr5444Lys) c.16328C>A (p.Thr5443Lys) c.16250C>A (p.Thr5417Lys) c.16235C>A (p.Thr5412Lys) c.16151C>A (p.Thr5384Lys) c.9449C>A (p.Thr3150Lys) c.9428C>A (p.Thr3143Lys) n.16326C>A | |
5 | g.90823538C>G | CA360425663 | ADGRV1 | c.16310C>G (p.Thr5437Arg) c.5264C>G (p.Thr1755Arg) n.3577C>G c.265+147329C>G (n.265+147329C>G) n.128+1356C>G c.2720C>G (p.Thr907Arg) c.3293C>G (p.Thr1098Arg) n.16323C>G c.16307C>G (p.Thr5436Arg) c.16229C>G (p.Thr5410Arg) c.13613C>G (p.Thr4538Arg) c.16331C>G (p.Thr5444Arg) c.16328C>G (p.Thr5443Arg) c.16250C>G (p.Thr5417Arg) c.16235C>G (p.Thr5412Arg) c.16151C>G (p.Thr5384Arg) c.9449C>G (p.Thr3150Arg) c.9428C>G (p.Thr3143Arg) n.16326C>G | |
5 | g.90823538C>T | CA360425664 | ADGRV1 | c.16310C>T (p.Thr5437Ile) c.5264C>T (p.Thr1755Ile) n.3577C>T c.265+147329C>T (n.265+147329C>T) n.128+1356C>T c.2720C>T (p.Thr907Ile) c.3293C>T (p.Thr1098Ile) n.16323C>T c.16307C>T (p.Thr5436Ile) c.16229C>T (p.Thr5410Ile) c.13613C>T (p.Thr4538Ile) c.16331C>T (p.Thr5444Ile) c.16328C>T (p.Thr5443Ile) c.16250C>T (p.Thr5417Ile) c.16235C>T (p.Thr5412Ile) c.16151C>T (p.Thr5384Ile) c.9449C>T (p.Thr3150Ile) c.9428C>T (p.Thr3143Ile) n.16326C>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.90823539A>C | CA445436589 | ADGRV1 | c.16311A>C (p.Thr5437=) c.5265A>C (p.Thr1755=) n.3578A>C c.265+147330A>C (n.265+147330A>C) n.128+1357A>C c.2721A>C (p.Thr907=) c.3294A>C (p.Thr1098=) n.16324A>C c.16308A>C (p.Thr5436=) c.16230A>C (p.Thr5410=) c.13614A>C (p.Thr4538=) c.16332A>C (p.Thr5444=) c.16329A>C (p.Thr5443=) c.16251A>C (p.Thr5417=) c.16236A>C (p.Thr5412=) c.16152A>C (p.Thr5384=) c.9450A>C (p.Thr3150=) c.9429A>C (p.Thr3143=) n.16327A>C | ClinVar |
5 | g.90823539A>G | CA445436590 | ADGRV1 | c.16311A>G (p.Thr5437=) c.5265A>G (p.Thr1755=) n.3578A>G c.265+147330A>G (n.265+147330A>G) n.128+1357A>G c.2721A>G (p.Thr907=) c.3294A>G (p.Thr1098=) n.16324A>G c.16308A>G (p.Thr5436=) c.16230A>G (p.Thr5410=) c.13614A>G (p.Thr4538=) c.16332A>G (p.Thr5444=) c.16329A>G (p.Thr5443=) c.16251A>G (p.Thr5417=) c.16236A>G (p.Thr5412=) c.16152A>G (p.Thr5384=) c.9450A>G (p.Thr3150=) c.9429A>G (p.Thr3143=) n.16327A>G | |
5 | g.90823539A>T | CA445436591 | ADGRV1 | c.16311A>T (p.Thr5437=) c.5265A>T (p.Thr1755=) n.3578A>T c.265+147330A>T (n.265+147330A>T) n.128+1357A>T c.2721A>T (p.Thr907=) c.3294A>T (p.Thr1098=) n.16324A>T c.16308A>T (p.Thr5436=) c.16230A>T (p.Thr5410=) c.13614A>T (p.Thr4538=) c.16332A>T (p.Thr5444=) c.16329A>T (p.Thr5443=) c.16251A>T (p.Thr5417=) c.16236A>T (p.Thr5412=) c.16152A>T (p.Thr5384=) c.9450A>T (p.Thr3150=) c.9429A>T (p.Thr3143=) n.16327A>T | |
5 | g.90823540A= | CA1562918295 | ADGRV1 | c.16312A= (p.Thr5438=) c.5266A= (p.Thr1756=) n.3579A= c.265+147331A= (n.265+147331A=) n.128+1358A= c.2722A= (p.Thr908=) c.3295A= (p.Thr1099=) n.16325A= c.16309A= (p.Thr5437=) c.16231A= (p.Thr5411=) c.13615A= (p.Thr4539=) c.16333A= (p.Thr5445=) c.16330A= (p.Thr5444=) c.16252A= (p.Thr5418=) c.16237A= (p.Thr5413=) c.16153A= (p.Thr5385=) c.9451A= (p.Thr3151=) c.9430A= (p.Thr3144=) n.16328A= | |
5 | g.90823540A>C | CA360425665 | ADGRV1 | c.16312A>C (p.Thr5438Pro) c.5266A>C (p.Thr1756Pro) n.3579A>C c.265+147331A>C (n.265+147331A>C) n.128+1358A>C c.2722A>C (p.Thr908Pro) c.3295A>C (p.Thr1099Pro) n.16325A>C c.16309A>C (p.Thr5437Pro) c.16231A>C (p.Thr5411Pro) c.13615A>C (p.Thr4539Pro) c.16333A>C (p.Thr5445Pro) c.16330A>C (p.Thr5444Pro) c.16252A>C (p.Thr5418Pro) c.16237A>C (p.Thr5413Pro) c.16153A>C (p.Thr5385Pro) c.9451A>C (p.Thr3151Pro) c.9430A>C (p.Thr3144Pro) n.16328A>C | |
5 | g.90823540A>G | CA182202 | ADGRV1 | c.16312A>G (p.Thr5438Ala) c.5266A>G (p.Thr1756Ala) n.3579A>G c.265+147331A>G (n.265+147331A>G) n.128+1358A>G c.2722A>G (p.Thr908Ala) c.3295A>G (p.Thr1099Ala) n.16325A>G c.16309A>G (p.Thr5437Ala) c.16231A>G (p.Thr5411Ala) c.13615A>G (p.Thr4539Ala) c.16333A>G (p.Thr5445Ala) c.16330A>G (p.Thr5444Ala) c.16252A>G (p.Thr5418Ala) c.16237A>G (p.Thr5413Ala) c.16153A>G (p.Thr5385Ala) c.9451A>G (p.Thr3151Ala) c.9430A>G (p.Thr3144Ala) n.16328A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823540A>T | CA360425666 | ADGRV1 | c.16312A>T (p.Thr5438Ser) c.5266A>T (p.Thr1756Ser) n.3579A>T c.265+147331A>T (n.265+147331A>T) n.128+1358A>T c.2722A>T (p.Thr908Ser) c.3295A>T (p.Thr1099Ser) n.16325A>T c.16309A>T (p.Thr5437Ser) c.16231A>T (p.Thr5411Ser) c.13615A>T (p.Thr4539Ser) c.16333A>T (p.Thr5445Ser) c.16330A>T (p.Thr5444Ser) c.16252A>T (p.Thr5418Ser) c.16237A>T (p.Thr5413Ser) c.16153A>T (p.Thr5385Ser) c.9451A>T (p.Thr3151Ser) c.9430A>T (p.Thr3144Ser) n.16328A>T | |
5 | g.90823541C>A | CA360425667 | ADGRV1 | c.16313C>A (p.Thr5438Asn) c.5267C>A (p.Thr1756Asn) n.3580C>A c.265+147332C>A (n.265+147332C>A) n.128+1359C>A c.2723C>A (p.Thr908Asn) c.3296C>A (p.Thr1099Asn) n.16326C>A c.16310C>A (p.Thr5437Asn) c.16232C>A (p.Thr5411Asn) c.13616C>A (p.Thr4539Asn) c.16334C>A (p.Thr5445Asn) c.16331C>A (p.Thr5444Asn) c.16253C>A (p.Thr5418Asn) c.16238C>A (p.Thr5413Asn) c.16154C>A (p.Thr5385Asn) c.9452C>A (p.Thr3151Asn) c.9431C>A (p.Thr3144Asn) n.16329C>A | |
5 | g.90823541C= | CA1562918296 | ADGRV1 | c.16313C= (p.Thr5438=) c.5267C= (p.Thr1756=) n.3580C= c.265+147332C= (n.265+147332C=) n.128+1359C= c.2723C= (p.Thr908=) c.3296C= (p.Thr1099=) n.16326C= c.16310C= (p.Thr5437=) c.16232C= (p.Thr5411=) c.13616C= (p.Thr4539=) c.16334C= (p.Thr5445=) c.16331C= (p.Thr5444=) c.16253C= (p.Thr5418=) c.16238C= (p.Thr5413=) c.16154C= (p.Thr5385=) c.9452C= (p.Thr3151=) c.9431C= (p.Thr3144=) n.16329C= | |
5 | g.90823541C>G | CA3342114 | ADGRV1 | c.16313C>G (p.Thr5438Ser) c.5267C>G (p.Thr1756Ser) n.3580C>G c.265+147332C>G (n.265+147332C>G) n.128+1359C>G c.2723C>G (p.Thr908Ser) c.3296C>G (p.Thr1099Ser) n.16326C>G c.16310C>G (p.Thr5437Ser) c.16232C>G (p.Thr5411Ser) c.13616C>G (p.Thr4539Ser) c.16334C>G (p.Thr5445Ser) c.16331C>G (p.Thr5444Ser) c.16253C>G (p.Thr5418Ser) c.16238C>G (p.Thr5413Ser) c.16154C>G (p.Thr5385Ser) c.9452C>G (p.Thr3151Ser) c.9431C>G (p.Thr3144Ser) n.16329C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90823541C>T | CA3342113 | ADGRV1 | c.16313C>T (p.Thr5438Ile) c.5267C>T (p.Thr1756Ile) n.3580C>T c.265+147332C>T (n.265+147332C>T) n.128+1359C>T c.2723C>T (p.Thr908Ile) c.3296C>T (p.Thr1099Ile) n.16326C>T c.16310C>T (p.Thr5437Ile) c.16232C>T (p.Thr5411Ile) c.13616C>T (p.Thr4539Ile) c.16334C>T (p.Thr5445Ile) c.16331C>T (p.Thr5444Ile) c.16253C>T (p.Thr5418Ile) c.16238C>T (p.Thr5413Ile) c.16154C>T (p.Thr5385Ile) c.9452C>T (p.Thr3151Ile) c.9431C>T (p.Thr3144Ile) n.16329C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823542C>A | CA445436592 | ADGRV1 | c.16314C>A (p.Thr5438=) c.5268C>A (p.Thr1756=) n.3581C>A c.265+147333C>A (n.265+147333C>A) n.128+1360C>A c.2724C>A (p.Thr908=) c.3297C>A (p.Thr1099=) n.16327C>A c.16311C>A (p.Thr5437=) c.16233C>A (p.Thr5411=) c.13617C>A (p.Thr4539=) c.16335C>A (p.Thr5445=) c.16332C>A (p.Thr5444=) c.16254C>A (p.Thr5418=) c.16239C>A (p.Thr5413=) c.16155C>A (p.Thr5385=) c.9453C>A (p.Thr3151=) c.9432C>A (p.Thr3144=) n.16330C>A | |
5 | g.90823542C>G | CA445436593 | ADGRV1 | c.16314C>G (p.Thr5438=) c.5268C>G (p.Thr1756=) n.3581C>G c.265+147333C>G (n.265+147333C>G) n.128+1360C>G c.2724C>G (p.Thr908=) c.3297C>G (p.Thr1099=) n.16327C>G c.16311C>G (p.Thr5437=) c.16233C>G (p.Thr5411=) c.13617C>G (p.Thr4539=) c.16335C>G (p.Thr5445=) c.16332C>G (p.Thr5444=) c.16254C>G (p.Thr5418=) c.16239C>G (p.Thr5413=) c.16155C>G (p.Thr5385=) c.9453C>G (p.Thr3151=) c.9432C>G (p.Thr3144=) n.16330C>G | |
5 | g.90823542C>T | CA445436594 | ADGRV1 | c.16314C>T (p.Thr5438=) c.5268C>T (p.Thr1756=) n.3581C>T c.265+147333C>T (n.265+147333C>T) n.128+1360C>T c.2724C>T (p.Thr908=) c.3297C>T (p.Thr1099=) n.16327C>T c.16311C>T (p.Thr5437=) c.16233C>T (p.Thr5411=) c.13617C>T (p.Thr4539=) c.16335C>T (p.Thr5445=) c.16332C>T (p.Thr5444=) c.16254C>T (p.Thr5418=) c.16239C>T (p.Thr5413=) c.16155C>T (p.Thr5385=) c.9453C>T (p.Thr3151=) c.9432C>T (p.Thr3144=) n.16330C>T | gnomAD v4 |
5 | g.90823543T>A | CA360425668 | ADGRV1 | c.16315T>A (p.Cys5439Ser) c.5269T>A (p.Cys1757Ser) n.3582T>A c.265+147334T>A (n.265+147334T>A) n.128+1361T>A c.2725T>A (p.Cys909Ser) c.3298T>A (p.Cys1100Ser) n.16328T>A c.16312T>A (p.Cys5438Ser) c.16234T>A (p.Cys5412Ser) c.13618T>A (p.Cys4540Ser) c.16336T>A (p.Cys5446Ser) c.16333T>A (p.Cys5445Ser) c.16255T>A (p.Cys5419Ser) c.16240T>A (p.Cys5414Ser) c.16156T>A (p.Cys5386Ser) c.9454T>A (p.Cys3152Ser) c.9433T>A (p.Cys3145Ser) n.16331T>A | |
5 | g.90823543T>C | CA360425669 | ADGRV1 | c.16315T>C (p.Cys5439Arg) c.5269T>C (p.Cys1757Arg) n.3582T>C c.265+147334T>C (n.265+147334T>C) n.128+1361T>C c.2725T>C (p.Cys909Arg) c.3298T>C (p.Cys1100Arg) n.16328T>C c.16312T>C (p.Cys5438Arg) c.16234T>C (p.Cys5412Arg) c.13618T>C (p.Cys4540Arg) c.16336T>C (p.Cys5446Arg) c.16333T>C (p.Cys5445Arg) c.16255T>C (p.Cys5419Arg) c.16240T>C (p.Cys5414Arg) c.16156T>C (p.Cys5386Arg) c.9454T>C (p.Cys3152Arg) c.9433T>C (p.Cys3145Arg) n.16331T>C | |
5 | g.90823543T>G | CA360425670 | ADGRV1 | c.16315T>G (p.Cys5439Gly) c.5269T>G (p.Cys1757Gly) n.3582T>G c.265+147334T>G (n.265+147334T>G) n.128+1361T>G c.2725T>G (p.Cys909Gly) c.3298T>G (p.Cys1100Gly) n.16328T>G c.16312T>G (p.Cys5438Gly) c.16234T>G (p.Cys5412Gly) c.13618T>G (p.Cys4540Gly) c.16336T>G (p.Cys5446Gly) c.16333T>G (p.Cys5445Gly) c.16255T>G (p.Cys5419Gly) c.16240T>G (p.Cys5414Gly) c.16156T>G (p.Cys5386Gly) c.9454T>G (p.Cys3152Gly) c.9433T>G (p.Cys3145Gly) n.16331T>G | |
5 | g.90823544G>A | CA360425671 | ADGRV1 | c.16316G>A (p.Cys5439Tyr) c.5270G>A (p.Cys1757Tyr) n.3583G>A c.265+147335G>A (n.265+147335G>A) n.128+1362G>A c.2726G>A (p.Cys909Tyr) c.3299G>A (p.Cys1100Tyr) n.16329G>A c.16313G>A (p.Cys5438Tyr) c.16235G>A (p.Cys5412Tyr) c.13619G>A (p.Cys4540Tyr) c.16337G>A (p.Cys5446Tyr) c.16334G>A (p.Cys5445Tyr) c.16256G>A (p.Cys5419Tyr) c.16241G>A (p.Cys5414Tyr) c.16157G>A (p.Cys5386Tyr) c.9455G>A (p.Cys3152Tyr) c.9434G>A (p.Cys3145Tyr) n.16332G>A | dbSNP gnomAD v4 |
5 | g.90823544G>C | CA360425673 | ADGRV1 | c.16316G>C (p.Cys5439Ser) c.5270G>C (p.Cys1757Ser) n.3583G>C c.265+147335G>C (n.265+147335G>C) n.128+1362G>C c.2726G>C (p.Cys909Ser) c.3299G>C (p.Cys1100Ser) n.16329G>C c.16313G>C (p.Cys5438Ser) c.16235G>C (p.Cys5412Ser) c.13619G>C (p.Cys4540Ser) c.16337G>C (p.Cys5446Ser) c.16334G>C (p.Cys5445Ser) c.16256G>C (p.Cys5419Ser) c.16241G>C (p.Cys5414Ser) c.16157G>C (p.Cys5386Ser) c.9455G>C (p.Cys3152Ser) c.9434G>C (p.Cys3145Ser) n.16332G>C | |
5 | g.90823544G= | CA1562918297 | ADGRV1 | c.16316G= (p.Cys5439=) c.5270G= (p.Cys1757=) n.3583G= c.265+147335G= (n.265+147335G=) n.128+1362G= c.2726G= (p.Cys909=) c.3299G= (p.Cys1100=) n.16329G= c.16313G= (p.Cys5438=) c.16235G= (p.Cys5412=) c.13619G= (p.Cys4540=) c.16337G= (p.Cys5446=) c.16334G= (p.Cys5445=) c.16256G= (p.Cys5419=) c.16241G= (p.Cys5414=) c.16157G= (p.Cys5386=) c.9455G= (p.Cys3152=) c.9434G= (p.Cys3145=) n.16332G= | |
5 | g.90823544G>T | CA360425672 | ADGRV1 | c.16316G>T (p.Cys5439Phe) c.5270G>T (p.Cys1757Phe) n.3583G>T c.265+147335G>T (n.265+147335G>T) n.128+1362G>T c.2726G>T (p.Cys909Phe) c.3299G>T (p.Cys1100Phe) n.16329G>T c.16313G>T (p.Cys5438Phe) c.16235G>T (p.Cys5412Phe) c.13619G>T (p.Cys4540Phe) c.16337G>T (p.Cys5446Phe) c.16334G>T (p.Cys5445Phe) c.16256G>T (p.Cys5419Phe) c.16241G>T (p.Cys5414Phe) c.16157G>T (p.Cys5386Phe) c.9455G>T (p.Cys3152Phe) c.9434G>T (p.Cys3145Phe) n.16332G>T | dbSNP |
5 | g.90823545T>A | CA360425674 | ADGRV1 | c.16317T>A (p.Cys5439Ter) c.5271T>A (p.Cys1757Ter) n.3584T>A c.265+147336T>A (n.265+147336T>A) n.128+1363T>A c.2727T>A (p.Cys909Ter) c.3300T>A (p.Cys1100Ter) n.16330T>A c.16314T>A (p.Cys5438Ter) c.16236T>A (p.Cys5412Ter) c.13620T>A (p.Cys4540Ter) c.16338T>A (p.Cys5446Ter) c.16335T>A (p.Cys5445Ter) c.16257T>A (p.Cys5419Ter) c.16242T>A (p.Cys5414Ter) c.16158T>A (p.Cys5386Ter) c.9456T>A (p.Cys3152Ter) c.9435T>A (p.Cys3145Ter) n.16333T>A | |
5 | g.90823545T>C | CA445436595 | ADGRV1 | c.16317T>C (p.Cys5439=) c.5271T>C (p.Cys1757=) n.3584T>C c.265+147336T>C (n.265+147336T>C) n.128+1363T>C c.2727T>C (p.Cys909=) c.3300T>C (p.Cys1100=) n.16330T>C c.16314T>C (p.Cys5438=) c.16236T>C (p.Cys5412=) c.13620T>C (p.Cys4540=) c.16338T>C (p.Cys5446=) c.16335T>C (p.Cys5445=) c.16257T>C (p.Cys5419=) c.16242T>C (p.Cys5414=) c.16158T>C (p.Cys5386=) c.9456T>C (p.Cys3152=) c.9435T>C (p.Cys3145=) n.16333T>C | dbSNP gnomAD v3 gnomAD v4 |
5 | g.90823545T>G | CA360425675 | ADGRV1 | c.16317T>G (p.Cys5439Trp) c.5271T>G (p.Cys1757Trp) n.3584T>G c.265+147336T>G (n.265+147336T>G) n.128+1363T>G c.2727T>G (p.Cys909Trp) c.3300T>G (p.Cys1100Trp) n.16330T>G c.16314T>G (p.Cys5438Trp) c.16236T>G (p.Cys5412Trp) c.13620T>G (p.Cys4540Trp) c.16338T>G (p.Cys5446Trp) c.16335T>G (p.Cys5445Trp) c.16257T>G (p.Cys5419Trp) c.16242T>G (p.Cys5414Trp) c.16158T>G (p.Cys5386Trp) c.9456T>G (p.Cys3152Trp) c.9435T>G (p.Cys3145Trp) n.16333T>G | |
5 | g.90823545T= | CA1562918298 | ADGRV1 | c.16317T= (p.Cys5439=) c.5271T= (p.Cys1757=) n.3584T= c.265+147336T= (n.265+147336T=) n.128+1363T= c.2727T= (p.Cys909=) c.3300T= (p.Cys1100=) n.16330T= c.16314T= (p.Cys5438=) c.16236T= (p.Cys5412=) c.13620T= (p.Cys4540=) c.16338T= (p.Cys5446=) c.16335T= (p.Cys5445=) c.16257T= (p.Cys5419=) c.16242T= (p.Cys5414=) c.16158T= (p.Cys5386=) c.9456T= (p.Cys3152=) c.9435T= (p.Cys3145=) n.16333T= | |
5 | g.90823546A= | CA1562918299 | ADGRV1 | c.16318A= (p.Thr5440=) c.5272A= (p.Thr1758=) n.3585A= c.265+147337A= (n.265+147337A=) n.128+1364A= c.2728A= (p.Thr910=) c.3301A= (p.Thr1101=) n.16331A= c.16315A= (p.Thr5439=) c.16237A= (p.Thr5413=) c.13621A= (p.Thr4541=) c.16339A= (p.Thr5447=) c.16336A= (p.Thr5446=) c.16258A= (p.Thr5420=) c.16243A= (p.Thr5415=) c.16159A= (p.Thr5387=) c.9457A= (p.Thr3153=) c.9436A= (p.Thr3146=) n.16334A= | |
5 | g.90823546A>C | CA360425676 | ADGRV1 | c.16318A>C (p.Thr5440Pro) c.5272A>C (p.Thr1758Pro) n.3585A>C c.265+147337A>C (n.265+147337A>C) n.128+1364A>C c.2728A>C (p.Thr910Pro) c.3301A>C (p.Thr1101Pro) n.16331A>C c.16315A>C (p.Thr5439Pro) c.16237A>C (p.Thr5413Pro) c.13621A>C (p.Thr4541Pro) c.16339A>C (p.Thr5447Pro) c.16336A>C (p.Thr5446Pro) c.16258A>C (p.Thr5420Pro) c.16243A>C (p.Thr5415Pro) c.16159A>C (p.Thr5387Pro) c.9457A>C (p.Thr3153Pro) c.9436A>C (p.Thr3146Pro) n.16334A>C | |
5 | g.90823546A>G | CA360425677 | ADGRV1 | c.16318A>G (p.Thr5440Ala) c.5272A>G (p.Thr1758Ala) n.3585A>G c.265+147337A>G (n.265+147337A>G) n.128+1364A>G c.2728A>G (p.Thr910Ala) c.3301A>G (p.Thr1101Ala) n.16331A>G c.16315A>G (p.Thr5439Ala) c.16237A>G (p.Thr5413Ala) c.13621A>G (p.Thr4541Ala) c.16339A>G (p.Thr5447Ala) c.16336A>G (p.Thr5446Ala) c.16258A>G (p.Thr5420Ala) c.16243A>G (p.Thr5415Ala) c.16159A>G (p.Thr5387Ala) c.9457A>G (p.Thr3153Ala) c.9436A>G (p.Thr3146Ala) n.16334A>G | |
5 | g.90823546A>T | CA360425678 | ADGRV1 | c.16318A>T (p.Thr5440Ser) c.5272A>T (p.Thr1758Ser) n.3585A>T c.265+147337A>T (n.265+147337A>T) n.128+1364A>T c.2728A>T (p.Thr910Ser) c.3301A>T (p.Thr1101Ser) n.16331A>T c.16315A>T (p.Thr5439Ser) c.16237A>T (p.Thr5413Ser) c.13621A>T (p.Thr4541Ser) c.16339A>T (p.Thr5447Ser) c.16336A>T (p.Thr5446Ser) c.16258A>T (p.Thr5420Ser) c.16243A>T (p.Thr5415Ser) c.16159A>T (p.Thr5387Ser) c.9457A>T (p.Thr3153Ser) c.9436A>T (p.Thr3146Ser) n.16334A>T | dbSNP |
5 | g.90823547C>A | CA360425679 | ADGRV1 | c.16319C>A (p.Thr5440Lys) c.5273C>A (p.Thr1758Lys) n.3586C>A c.265+147338C>A (n.265+147338C>A) n.128+1365C>A c.2729C>A (p.Thr910Lys) c.3302C>A (p.Thr1101Lys) n.16332C>A c.16316C>A (p.Thr5439Lys) c.16238C>A (p.Thr5413Lys) c.13622C>A (p.Thr4541Lys) c.16340C>A (p.Thr5447Lys) c.16337C>A (p.Thr5446Lys) c.16259C>A (p.Thr5420Lys) c.16244C>A (p.Thr5415Lys) c.16160C>A (p.Thr5387Lys) c.9458C>A (p.Thr3153Lys) c.9437C>A (p.Thr3146Lys) n.16335C>A | ClinVar dbSNP gnomAD v4 |
5 | g.90823547C= | CA1562918300 | ADGRV1 | c.16319C= (p.Thr5440=) c.5273C= (p.Thr1758=) n.3586C= c.265+147338C= (n.265+147338C=) n.128+1365C= c.2729C= (p.Thr910=) c.3302C= (p.Thr1101=) n.16332C= c.16316C= (p.Thr5439=) c.16238C= (p.Thr5413=) c.13622C= (p.Thr4541=) c.16340C= (p.Thr5447=) c.16337C= (p.Thr5446=) c.16259C= (p.Thr5420=) c.16244C= (p.Thr5415=) c.16160C= (p.Thr5387=) c.9458C= (p.Thr3153=) c.9437C= (p.Thr3146=) n.16335C= | |
5 | g.90823547C>G | CA360425680 | ADGRV1 | c.16319C>G (p.Thr5440Arg) c.5273C>G (p.Thr1758Arg) n.3586C>G c.265+147338C>G (n.265+147338C>G) n.128+1365C>G c.2729C>G (p.Thr910Arg) c.3302C>G (p.Thr1101Arg) n.16332C>G c.16316C>G (p.Thr5439Arg) c.16238C>G (p.Thr5413Arg) c.13622C>G (p.Thr4541Arg) c.16340C>G (p.Thr5447Arg) c.16337C>G (p.Thr5446Arg) c.16259C>G (p.Thr5420Arg) c.16244C>G (p.Thr5415Arg) c.16160C>G (p.Thr5387Arg) c.9458C>G (p.Thr3153Arg) c.9437C>G (p.Thr3146Arg) n.16335C>G | |
5 | g.90823547C>T | CA360425681 | ADGRV1 | c.16319C>T (p.Thr5440Ile) c.5273C>T (p.Thr1758Ile) n.3586C>T c.265+147338C>T (n.265+147338C>T) n.128+1365C>T c.2729C>T (p.Thr910Ile) c.3302C>T (p.Thr1101Ile) n.16332C>T c.16316C>T (p.Thr5439Ile) c.16238C>T (p.Thr5413Ile) c.13622C>T (p.Thr4541Ile) c.16340C>T (p.Thr5447Ile) c.16337C>T (p.Thr5446Ile) c.16259C>T (p.Thr5420Ile) c.16244C>T (p.Thr5415Ile) c.16160C>T (p.Thr5387Ile) c.9458C>T (p.Thr3153Ile) c.9437C>T (p.Thr3146Ile) n.16335C>T | dbSNP gnomAD v4 |
5 | g.90823548A= | CA1562918301 | ADGRV1 | c.16320A= (p.Thr5440=) c.5274A= (p.Thr1758=) n.3587A= c.265+147339A= (n.265+147339A=) n.128+1366A= c.2730A= (p.Thr910=) c.3303A= (p.Thr1101=) n.16333A= c.16317A= (p.Thr5439=) c.16239A= (p.Thr5413=) c.13623A= (p.Thr4541=) c.16341A= (p.Thr5447=) c.16338A= (p.Thr5446=) c.16260A= (p.Thr5420=) c.16245A= (p.Thr5415=) c.16161A= (p.Thr5387=) c.9459A= (p.Thr3153=) c.9438A= (p.Thr3146=) n.16336A= | |
5 | g.90823548A>C | CA445436596 | ADGRV1 | c.16320A>C (p.Thr5440=) c.5274A>C (p.Thr1758=) n.3587A>C c.265+147339A>C (n.265+147339A>C) n.128+1366A>C c.2730A>C (p.Thr910=) c.3303A>C (p.Thr1101=) n.16333A>C c.16317A>C (p.Thr5439=) c.16239A>C (p.Thr5413=) c.13623A>C (p.Thr4541=) c.16341A>C (p.Thr5447=) c.16338A>C (p.Thr5446=) c.16260A>C (p.Thr5420=) c.16245A>C (p.Thr5415=) c.16161A>C (p.Thr5387=) c.9459A>C (p.Thr3153=) c.9438A>C (p.Thr3146=) n.16336A>C | |
5 | g.90823548A>G | CA445436597 | ADGRV1 | c.16320A>G (p.Thr5440=) c.5274A>G (p.Thr1758=) n.3587A>G c.265+147339A>G (n.265+147339A>G) n.128+1366A>G c.2730A>G (p.Thr910=) c.3303A>G (p.Thr1101=) n.16333A>G c.16317A>G (p.Thr5439=) c.16239A>G (p.Thr5413=) c.13623A>G (p.Thr4541=) c.16341A>G (p.Thr5447=) c.16338A>G (p.Thr5446=) c.16260A>G (p.Thr5420=) c.16245A>G (p.Thr5415=) c.16161A>G (p.Thr5387=) c.9459A>G (p.Thr3153=) c.9438A>G (p.Thr3146=) n.16336A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.90823548A>T | CA445436598 | ADGRV1 | c.16320A>T (p.Thr5440=) c.5274A>T (p.Thr1758=) n.3587A>T c.265+147339A>T (n.265+147339A>T) n.128+1366A>T c.2730A>T (p.Thr910=) c.3303A>T (p.Thr1101=) n.16333A>T c.16317A>T (p.Thr5439=) c.16239A>T (p.Thr5413=) c.13623A>T (p.Thr4541=) c.16341A>T (p.Thr5447=) c.16338A>T (p.Thr5446=) c.16260A>T (p.Thr5420=) c.16245A>T (p.Thr5415=) c.16161A>T (p.Thr5387=) c.9459A>T (p.Thr3153=) c.9438A>T (p.Thr3146=) n.16336A>T | |
5 | g.90823549A= | CA1562918302 | ADGRV1 | c.16321A= (p.Met5441=) c.5275A= (p.Met1759=) n.3588A= c.265+147340A= (n.265+147340A=) n.128+1367A= c.2731A= (p.Met911=) c.3304A= (p.Met1102=) n.16334A= c.16318A= (p.Met5440=) c.16240A= (p.Met5414=) c.13624A= (p.Met4542=) c.16342A= (p.Met5448=) c.16339A= (p.Met5447=) c.16261A= (p.Met5421=) c.16246A= (p.Met5416=) c.16162A= (p.Met5388=) c.9460A= (p.Met3154=) c.9439A= (p.Met3147=) n.16337A= | |
5 | g.90823549A>C | CA360425682 | ADGRV1 | c.16321A>C (p.Met5441Leu) c.5275A>C (p.Met1759Leu) n.3588A>C c.265+147340A>C (n.265+147340A>C) n.128+1367A>C c.2731A>C (p.Met911Leu) c.3304A>C (p.Met1102Leu) n.16334A>C c.16318A>C (p.Met5440Leu) c.16240A>C (p.Met5414Leu) c.13624A>C (p.Met4542Leu) c.16342A>C (p.Met5448Leu) c.16339A>C (p.Met5447Leu) c.16261A>C (p.Met5421Leu) c.16246A>C (p.Met5416Leu) c.16162A>C (p.Met5388Leu) c.9460A>C (p.Met3154Leu) c.9439A>C (p.Met3147Leu) n.16337A>C | |
5 | g.90823549A>G | CA360425683 | ADGRV1 | c.16321A>G (p.Met5441Val) c.5275A>G (p.Met1759Val) n.3588A>G c.265+147340A>G (n.265+147340A>G) n.128+1367A>G c.2731A>G (p.Met911Val) c.3304A>G (p.Met1102Val) n.16334A>G c.16318A>G (p.Met5440Val) c.16240A>G (p.Met5414Val) c.13624A>G (p.Met4542Val) c.16342A>G (p.Met5448Val) c.16339A>G (p.Met5447Val) c.16261A>G (p.Met5421Val) c.16246A>G (p.Met5416Val) c.16162A>G (p.Met5388Val) c.9460A>G (p.Met3154Val) c.9439A>G (p.Met3147Val) n.16337A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823549A>T | CA360425684 | ADGRV1 | c.16321A>T (p.Met5441Leu) c.5275A>T (p.Met1759Leu) n.3588A>T c.265+147340A>T (n.265+147340A>T) n.128+1367A>T c.2731A>T (p.Met911Leu) c.3304A>T (p.Met1102Leu) n.16334A>T c.16318A>T (p.Met5440Leu) c.16240A>T (p.Met5414Leu) c.13624A>T (p.Met4542Leu) c.16342A>T (p.Met5448Leu) c.16339A>T (p.Met5447Leu) c.16261A>T (p.Met5421Leu) c.16246A>T (p.Met5416Leu) c.16162A>T (p.Met5388Leu) c.9460A>T (p.Met3154Leu) c.9439A>T (p.Met3147Leu) n.16337A>T | |
5 | g.90823550T>A | CA360425687 | ADGRV1 | c.16322T>A (p.Met5441Lys) c.5276T>A (p.Met1759Lys) n.3589T>A c.265+147341T>A (n.265+147341T>A) n.128+1368T>A c.2732T>A (p.Met911Lys) c.3305T>A (p.Met1102Lys) n.16335T>A c.16319T>A (p.Met5440Lys) c.16241T>A (p.Met5414Lys) c.13625T>A (p.Met4542Lys) c.16343T>A (p.Met5448Lys) c.16340T>A (p.Met5447Lys) c.16262T>A (p.Met5421Lys) c.16247T>A (p.Met5416Lys) c.16163T>A (p.Met5388Lys) c.9461T>A (p.Met3154Lys) c.9440T>A (p.Met3147Lys) n.16338T>A | |
5 | g.90823550T>C | CA360425686 | ADGRV1 | c.16322T>C (p.Met5441Thr) c.5276T>C (p.Met1759Thr) n.3589T>C c.265+147341T>C (n.265+147341T>C) n.128+1368T>C c.2732T>C (p.Met911Thr) c.3305T>C (p.Met1102Thr) n.16335T>C c.16319T>C (p.Met5440Thr) c.16241T>C (p.Met5414Thr) c.13625T>C (p.Met4542Thr) c.16343T>C (p.Met5448Thr) c.16340T>C (p.Met5447Thr) c.16262T>C (p.Met5421Thr) c.16247T>C (p.Met5416Thr) c.16163T>C (p.Met5388Thr) c.9461T>C (p.Met3154Thr) c.9440T>C (p.Met3147Thr) n.16338T>C | |
5 | g.90823550T>G | CA360425685 | ADGRV1 | c.16322T>G (p.Met5441Arg) c.5276T>G (p.Met1759Arg) n.3589T>G c.265+147341T>G (n.265+147341T>G) n.128+1368T>G c.2732T>G (p.Met911Arg) c.3305T>G (p.Met1102Arg) n.16335T>G c.16319T>G (p.Met5440Arg) c.16241T>G (p.Met5414Arg) c.13625T>G (p.Met4542Arg) c.16343T>G (p.Met5448Arg) c.16340T>G (p.Met5447Arg) c.16262T>G (p.Met5421Arg) c.16247T>G (p.Met5416Arg) c.16163T>G (p.Met5388Arg) c.9461T>G (p.Met3154Arg) c.9440T>G (p.Met3147Arg) n.16338T>G | gnomAD v4 |
5 | g.90823551G>A | CA360425688 | ADGRV1 | c.16323G>A (p.Met5441Ile) c.5277G>A (p.Met1759Ile) n.3590G>A c.265+147342G>A (n.265+147342G>A) n.128+1369G>A c.2733G>A (p.Met911Ile) c.3306G>A (p.Met1102Ile) n.16336G>A c.16320G>A (p.Met5440Ile) c.16242G>A (p.Met5414Ile) c.13626G>A (p.Met4542Ile) c.16344G>A (p.Met5448Ile) c.16341G>A (p.Met5447Ile) c.16263G>A (p.Met5421Ile) c.16248G>A (p.Met5416Ile) c.16164G>A (p.Met5388Ile) c.9462G>A (p.Met3154Ile) c.9441G>A (p.Met3147Ile) n.16339G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.90823551G>C | CA360425689 | ADGRV1 | c.16323G>C (p.Met5441Ile) c.5277G>C (p.Met1759Ile) n.3590G>C c.265+147342G>C (n.265+147342G>C) n.128+1369G>C c.2733G>C (p.Met911Ile) c.3306G>C (p.Met1102Ile) n.16336G>C c.16320G>C (p.Met5440Ile) c.16242G>C (p.Met5414Ile) c.13626G>C (p.Met4542Ile) c.16344G>C (p.Met5448Ile) c.16341G>C (p.Met5447Ile) c.16263G>C (p.Met5421Ile) c.16248G>C (p.Met5416Ile) c.16164G>C (p.Met5388Ile) c.9462G>C (p.Met3154Ile) c.9441G>C (p.Met3147Ile) n.16339G>C | |
5 | g.90823551G= | CA1562918303 | ADGRV1 | c.16323G= (p.Met5441=) c.5277G= (p.Met1759=) n.3590G= c.265+147342G= (n.265+147342G=) n.128+1369G= c.2733G= (p.Met911=) c.3306G= (p.Met1102=) n.16336G= c.16320G= (p.Met5440=) c.16242G= (p.Met5414=) c.13626G= (p.Met4542=) c.16344G= (p.Met5448=) c.16341G= (p.Met5447=) c.16263G= (p.Met5421=) c.16248G= (p.Met5416=) c.16164G= (p.Met5388=) c.9462G= (p.Met3154=) c.9441G= (p.Met3147=) n.16339G= | |
5 | g.90823551G>T | CA360425690 | ADGRV1 | c.16323G>T (p.Met5441Ile) c.5277G>T (p.Met1759Ile) n.3590G>T c.265+147342G>T (n.265+147342G>T) n.128+1369G>T c.2733G>T (p.Met911Ile) c.3306G>T (p.Met1102Ile) n.16336G>T c.16320G>T (p.Met5440Ile) c.16242G>T (p.Met5414Ile) c.13626G>T (p.Met4542Ile) c.16344G>T (p.Met5448Ile) c.16341G>T (p.Met5447Ile) c.16263G>T (p.Met5421Ile) c.16248G>T (p.Met5416Ile) c.16164G>T (p.Met5388Ile) c.9462G>T (p.Met3154Ile) c.9441G>T (p.Met3147Ile) n.16339G>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
5 | g.90823552G>A | CA3342115 | ADGRV1 | c.16324G>A (p.Gly5442Ser) c.5278G>A (p.Gly1760Ser) n.3591G>A c.265+147343G>A (n.265+147343G>A) n.128+1370G>A c.2734G>A (p.Gly912Ser) c.3307G>A (p.Gly1103Ser) n.16337G>A c.16321G>A (p.Gly5441Ser) c.16243G>A (p.Gly5415Ser) c.13627G>A (p.Gly4543Ser) c.16345G>A (p.Gly5449Ser) c.16342G>A (p.Gly5448Ser) c.16264G>A (p.Gly5422Ser) c.16249G>A (p.Gly5417Ser) c.16165G>A (p.Gly5389Ser) c.9463G>A (p.Gly3155Ser) c.9442G>A (p.Gly3148Ser) n.16340G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90823552G>C | CA360425691 | ADGRV1 | c.16324G>C (p.Gly5442Arg) c.5278G>C (p.Gly1760Arg) n.3591G>C c.265+147343G>C (n.265+147343G>C) n.128+1370G>C c.2734G>C (p.Gly912Arg) c.3307G>C (p.Gly1103Arg) n.16337G>C c.16321G>C (p.Gly5441Arg) c.16243G>C (p.Gly5415Arg) c.13627G>C (p.Gly4543Arg) c.16345G>C (p.Gly5449Arg) c.16342G>C (p.Gly5448Arg) c.16264G>C (p.Gly5422Arg) c.16249G>C (p.Gly5417Arg) c.16165G>C (p.Gly5389Arg) c.9463G>C (p.Gly3155Arg) c.9442G>C (p.Gly3148Arg) n.16340G>C | |
5 | g.90823552G= | CA1562918304 | ADGRV1 | c.16324G= (p.Gly5442=) c.5278G= (p.Gly1760=) n.3591G= c.265+147343G= (n.265+147343G=) n.128+1370G= c.2734G= (p.Gly912=) c.3307G= (p.Gly1103=) n.16337G= c.16321G= (p.Gly5441=) c.16243G= (p.Gly5415=) c.13627G= (p.Gly4543=) c.16345G= (p.Gly5449=) c.16342G= (p.Gly5448=) c.16264G= (p.Gly5422=) c.16249G= (p.Gly5417=) c.16165G= (p.Gly5389=) c.9463G= (p.Gly3155=) c.9442G= (p.Gly3148=) n.16340G= | |
5 | g.90823552G>T | CA360425692 | ADGRV1 | c.16324G>T (p.Gly5442Cys) c.5278G>T (p.Gly1760Cys) n.3591G>T c.265+147343G>T (n.265+147343G>T) n.128+1370G>T c.2734G>T (p.Gly912Cys) c.3307G>T (p.Gly1103Cys) n.16337G>T c.16321G>T (p.Gly5441Cys) c.16243G>T (p.Gly5415Cys) c.13627G>T (p.Gly4543Cys) c.16345G>T (p.Gly5449Cys) c.16342G>T (p.Gly5448Cys) c.16264G>T (p.Gly5422Cys) c.16249G>T (p.Gly5417Cys) c.16165G>T (p.Gly5389Cys) c.9463G>T (p.Gly3155Cys) c.9442G>T (p.Gly3148Cys) n.16340G>T | |
5 | g.90823553G>A | CA3342116 | ADGRV1 | c.16325G>A (p.Gly5442Asp) c.5279G>A (p.Gly1760Asp) n.3592G>A c.265+147344G>A (n.265+147344G>A) n.128+1371G>A c.2735G>A (p.Gly912Asp) c.3308G>A (p.Gly1103Asp) n.16338G>A c.16322G>A (p.Gly5441Asp) c.16244G>A (p.Gly5415Asp) c.13628G>A (p.Gly4543Asp) c.16346G>A (p.Gly5449Asp) c.16343G>A (p.Gly5448Asp) c.16265G>A (p.Gly5422Asp) c.16250G>A (p.Gly5417Asp) c.16166G>A (p.Gly5389Asp) c.9464G>A (p.Gly3155Asp) c.9443G>A (p.Gly3148Asp) n.16341G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823553G>C | CA360425693 | ADGRV1 | c.16325G>C (p.Gly5442Ala) c.5279G>C (p.Gly1760Ala) n.3592G>C c.265+147344G>C (n.265+147344G>C) n.128+1371G>C c.2735G>C (p.Gly912Ala) c.3308G>C (p.Gly1103Ala) n.16338G>C c.16322G>C (p.Gly5441Ala) c.16244G>C (p.Gly5415Ala) c.13628G>C (p.Gly4543Ala) c.16346G>C (p.Gly5449Ala) c.16343G>C (p.Gly5448Ala) c.16265G>C (p.Gly5422Ala) c.16250G>C (p.Gly5417Ala) c.16166G>C (p.Gly5389Ala) c.9464G>C (p.Gly3155Ala) c.9443G>C (p.Gly3148Ala) n.16341G>C | |
5 | g.90823553G= | CA1562918305 | ADGRV1 | c.16325G= (p.Gly5442=) c.5279G= (p.Gly1760=) n.3592G= c.265+147344G= (n.265+147344G=) n.128+1371G= c.2735G= (p.Gly912=) c.3308G= (p.Gly1103=) n.16338G= c.16322G= (p.Gly5441=) c.16244G= (p.Gly5415=) c.13628G= (p.Gly4543=) c.16346G= (p.Gly5449=) c.16343G= (p.Gly5448=) c.16265G= (p.Gly5422=) c.16250G= (p.Gly5417=) c.16166G= (p.Gly5389=) c.9464G= (p.Gly3155=) c.9443G= (p.Gly3148=) n.16341G= | |
5 | g.90823553G>T | CA360425694 | ADGRV1 | c.16325G>T (p.Gly5442Val) c.5279G>T (p.Gly1760Val) n.3592G>T c.265+147344G>T (n.265+147344G>T) n.128+1371G>T c.2735G>T (p.Gly912Val) c.3308G>T (p.Gly1103Val) n.16338G>T c.16322G>T (p.Gly5441Val) c.16244G>T (p.Gly5415Val) c.13628G>T (p.Gly4543Val) c.16346G>T (p.Gly5449Val) c.16343G>T (p.Gly5448Val) c.16265G>T (p.Gly5422Val) c.16250G>T (p.Gly5417Val) c.16166G>T (p.Gly5389Val) c.9464G>T (p.Gly3155Val) c.9443G>T (p.Gly3148Val) n.16341G>T | gnomAD v4 COSMIC |
5 | g.90823554T>A | CA445436599 | ADGRV1 | c.16326T>A (p.Gly5442=) c.5280T>A (p.Gly1760=) n.3593T>A c.265+147345T>A (n.265+147345T>A) n.128+1372T>A c.2736T>A (p.Gly912=) c.3309T>A (p.Gly1103=) n.16339T>A c.16323T>A (p.Gly5441=) c.16245T>A (p.Gly5415=) c.13629T>A (p.Gly4543=) c.16347T>A (p.Gly5449=) c.16344T>A (p.Gly5448=) c.16266T>A (p.Gly5422=) c.16251T>A (p.Gly5417=) c.16167T>A (p.Gly5389=) c.9465T>A (p.Gly3155=) c.9444T>A (p.Gly3148=) n.16342T>A | |
5 | g.90823554T>C | CA445436600 | ADGRV1 | c.16326T>C (p.Gly5442=) c.5280T>C (p.Gly1760=) n.3593T>C c.265+147345T>C (n.265+147345T>C) n.128+1372T>C c.2736T>C (p.Gly912=) c.3309T>C (p.Gly1103=) n.16339T>C c.16323T>C (p.Gly5441=) c.16245T>C (p.Gly5415=) c.13629T>C (p.Gly4543=) c.16347T>C (p.Gly5449=) c.16344T>C (p.Gly5448=) c.16266T>C (p.Gly5422=) c.16251T>C (p.Gly5417=) c.16167T>C (p.Gly5389=) c.9465T>C (p.Gly3155=) c.9444T>C (p.Gly3148=) n.16342T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.90823554T>G | CA445436601 | ADGRV1 | c.16326T>G (p.Gly5442=) c.5280T>G (p.Gly1760=) n.3593T>G c.265+147345T>G (n.265+147345T>G) n.128+1372T>G c.2736T>G (p.Gly912=) c.3309T>G (p.Gly1103=) n.16339T>G c.16323T>G (p.Gly5441=) c.16245T>G (p.Gly5415=) c.13629T>G (p.Gly4543=) c.16347T>G (p.Gly5449=) c.16344T>G (p.Gly5448=) c.16266T>G (p.Gly5422=) c.16251T>G (p.Gly5417=) c.16167T>G (p.Gly5389=) c.9465T>G (p.Gly3155=) c.9444T>G (p.Gly3148=) n.16342T>G | |
5 | g.90823554T= | CA1562918306 | ADGRV1 | c.16326T= (p.Gly5442=) c.5280T= (p.Gly1760=) n.3593T= c.265+147345T= (n.265+147345T=) n.128+1372T= c.2736T= (p.Gly912=) c.3309T= (p.Gly1103=) n.16339T= c.16323T= (p.Gly5441=) c.16245T= (p.Gly5415=) c.13629T= (p.Gly4543=) c.16347T= (p.Gly5449=) c.16344T= (p.Gly5448=) c.16266T= (p.Gly5422=) c.16251T= (p.Gly5417=) c.16167T= (p.Gly5389=) c.9465T= (p.Gly3155=) c.9444T= (p.Gly3148=) n.16342T= | |
5 | g.90823555C>A | CA360425695 | ADGRV1 | c.16327C>A (p.Gln5443Lys) c.5281C>A (p.Gln1761Lys) n.3594C>A c.265+147346C>A (n.265+147346C>A) n.128+1373C>A c.2737C>A (p.Gln913Lys) c.3310C>A (p.Gln1104Lys) n.16340C>A c.16324C>A (p.Gln5442Lys) c.16246C>A (p.Gln5416Lys) c.13630C>A (p.Gln4544Lys) c.16348C>A (p.Gln5450Lys) c.16345C>A (p.Gln5449Lys) c.16267C>A (p.Gln5423Lys) c.16252C>A (p.Gln5418Lys) c.16168C>A (p.Gln5390Lys) c.9466C>A (p.Gln3156Lys) c.9445C>A (p.Gln3149Lys) n.16343C>A | |
5 | g.90823555C>G | CA360425696 | ADGRV1 | c.16327C>G (p.Gln5443Glu) c.5281C>G (p.Gln1761Glu) n.3594C>G c.265+147346C>G (n.265+147346C>G) n.128+1373C>G c.2737C>G (p.Gln913Glu) c.3310C>G (p.Gln1104Glu) n.16340C>G c.16324C>G (p.Gln5442Glu) c.16246C>G (p.Gln5416Glu) c.13630C>G (p.Gln4544Glu) c.16348C>G (p.Gln5450Glu) c.16345C>G (p.Gln5449Glu) c.16267C>G (p.Gln5423Glu) c.16252C>G (p.Gln5418Glu) c.16168C>G (p.Gln5390Glu) c.9466C>G (p.Gln3156Glu) c.9445C>G (p.Gln3149Glu) n.16343C>G | |
5 | g.90823555C>T | CA360425697 | ADGRV1 | c.16327C>T (p.Gln5443Ter) c.5281C>T (p.Gln1761Ter) n.3594C>T c.265+147346C>T (n.265+147346C>T) n.128+1373C>T c.2737C>T (p.Gln913Ter) c.3310C>T (p.Gln1104Ter) n.16340C>T c.16324C>T (p.Gln5442Ter) c.16246C>T (p.Gln5416Ter) c.13630C>T (p.Gln4544Ter) c.16348C>T (p.Gln5450Ter) c.16345C>T (p.Gln5449Ter) c.16267C>T (p.Gln5423Ter) c.16252C>T (p.Gln5418Ter) c.16168C>T (p.Gln5390Ter) c.9466C>T (p.Gln3156Ter) c.9445C>T (p.Gln3149Ter) n.16343C>T | |
5 | g.90823556A>C | CA360425700 | ADGRV1 | c.16328A>C (p.Gln5443Pro) c.5282A>C (p.Gln1761Pro) n.3595A>C c.265+147347A>C (n.265+147347A>C) n.128+1374A>C c.2738A>C (p.Gln913Pro) c.3311A>C (p.Gln1104Pro) n.16341A>C c.16325A>C (p.Gln5442Pro) c.16247A>C (p.Gln5416Pro) c.13631A>C (p.Gln4544Pro) c.16349A>C (p.Gln5450Pro) c.16346A>C (p.Gln5449Pro) c.16268A>C (p.Gln5423Pro) c.16253A>C (p.Gln5418Pro) c.16169A>C (p.Gln5390Pro) c.9467A>C (p.Gln3156Pro) c.9446A>C (p.Gln3149Pro) n.16344A>C | |
5 | g.90823556A>G | CA360425699 | ADGRV1 | c.16328A>G (p.Gln5443Arg) c.5282A>G (p.Gln1761Arg) n.3595A>G c.265+147347A>G (n.265+147347A>G) n.128+1374A>G c.2738A>G (p.Gln913Arg) c.3311A>G (p.Gln1104Arg) n.16341A>G c.16325A>G (p.Gln5442Arg) c.16247A>G (p.Gln5416Arg) c.13631A>G (p.Gln4544Arg) c.16349A>G (p.Gln5450Arg) c.16346A>G (p.Gln5449Arg) c.16268A>G (p.Gln5423Arg) c.16253A>G (p.Gln5418Arg) c.16169A>G (p.Gln5390Arg) c.9467A>G (p.Gln3156Arg) c.9446A>G (p.Gln3149Arg) n.16344A>G | |
5 | g.90823556A>T | CA360425698 | ADGRV1 | c.16328A>T (p.Gln5443Leu) c.5282A>T (p.Gln1761Leu) n.3595A>T c.265+147347A>T (n.265+147347A>T) n.128+1374A>T c.2738A>T (p.Gln913Leu) c.3311A>T (p.Gln1104Leu) n.16341A>T c.16325A>T (p.Gln5442Leu) c.16247A>T (p.Gln5416Leu) c.13631A>T (p.Gln4544Leu) c.16349A>T (p.Gln5450Leu) c.16346A>T (p.Gln5449Leu) c.16268A>T (p.Gln5423Leu) c.16253A>T (p.Gln5418Leu) c.16169A>T (p.Gln5390Leu) c.9467A>T (p.Gln3156Leu) c.9446A>T (p.Gln3149Leu) n.16344A>T | |
5 | g.90823557A= | CA1562918307 | ADGRV1 | c.16329A= (p.Gln5443=) c.5283A= (p.Gln1761=) n.3596A= c.265+147348A= (n.265+147348A=) n.128+1375A= c.2739A= (p.Gln913=) c.3312A= (p.Gln1104=) n.16342A= c.16326A= (p.Gln5442=) c.16248A= (p.Gln5416=) c.13632A= (p.Gln4544=) c.16350A= (p.Gln5450=) c.16347A= (p.Gln5449=) c.16269A= (p.Gln5423=) c.16254A= (p.Gln5418=) c.16170A= (p.Gln5390=) c.9468A= (p.Gln3156=) c.9447A= (p.Gln3149=) n.16345A= | |
5 | g.90823557A>C | CA360425701 | ADGRV1 | c.16329A>C (p.Gln5443His) c.5283A>C (p.Gln1761His) n.3596A>C c.265+147348A>C (n.265+147348A>C) n.128+1375A>C c.2739A>C (p.Gln913His) c.3312A>C (p.Gln1104His) n.16342A>C c.16326A>C (p.Gln5442His) c.16248A>C (p.Gln5416His) c.13632A>C (p.Gln4544His) c.16350A>C (p.Gln5450His) c.16347A>C (p.Gln5449His) c.16269A>C (p.Gln5423His) c.16254A>C (p.Gln5418His) c.16170A>C (p.Gln5390His) c.9468A>C (p.Gln3156His) c.9447A>C (p.Gln3149His) n.16345A>C | |
5 | g.90823557A>G | CA445436602 | ADGRV1 | c.16329A>G (p.Gln5443=) c.5283A>G (p.Gln1761=) n.3596A>G c.265+147348A>G (n.265+147348A>G) n.128+1375A>G c.2739A>G (p.Gln913=) c.3312A>G (p.Gln1104=) n.16342A>G c.16326A>G (p.Gln5442=) c.16248A>G (p.Gln5416=) c.13632A>G (p.Gln4544=) c.16350A>G (p.Gln5450=) c.16347A>G (p.Gln5449=) c.16269A>G (p.Gln5423=) c.16254A>G (p.Gln5418=) c.16170A>G (p.Gln5390=) c.9468A>G (p.Gln3156=) c.9447A>G (p.Gln3149=) n.16345A>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.90823557A>T | CA360425702 | ADGRV1 | c.16329A>T (p.Gln5443His) c.5283A>T (p.Gln1761His) n.3596A>T c.265+147348A>T (n.265+147348A>T) n.128+1375A>T c.2739A>T (p.Gln913His) c.3312A>T (p.Gln1104His) n.16342A>T c.16326A>T (p.Gln5442His) c.16248A>T (p.Gln5416His) c.13632A>T (p.Gln4544His) c.16350A>T (p.Gln5450His) c.16347A>T (p.Gln5449His) c.16269A>T (p.Gln5423His) c.16254A>T (p.Gln5418His) c.16170A>T (p.Gln5390His) c.9468A>T (p.Gln3156His) c.9447A>T (p.Gln3149His) n.16345A>T | |
5 | g.90823558A= | CA1562918308 | ADGRV1 | c.16330A= (p.Thr5444=) c.5284A= (p.Thr1762=) n.3597A= c.265+147349A= (n.265+147349A=) n.128+1376A= c.2740A= (p.Thr914=) c.3313A= (p.Thr1105=) n.16343A= c.16327A= (p.Thr5443=) c.16249A= (p.Thr5417=) c.13633A= (p.Thr4545=) c.16351A= (p.Thr5451=) c.16348A= (p.Thr5450=) c.16270A= (p.Thr5424=) c.16255A= (p.Thr5419=) c.16171A= (p.Thr5391=) c.9469A= (p.Thr3157=) c.9448A= (p.Thr3150=) n.16346A= | |
5 | g.90823558A>C | CA360425703 | ADGRV1 | c.16330A>C (p.Thr5444Pro) c.5284A>C (p.Thr1762Pro) n.3597A>C c.265+147349A>C (n.265+147349A>C) n.128+1376A>C c.2740A>C (p.Thr914Pro) c.3313A>C (p.Thr1105Pro) n.16343A>C c.16327A>C (p.Thr5443Pro) c.16249A>C (p.Thr5417Pro) c.13633A>C (p.Thr4545Pro) c.16351A>C (p.Thr5451Pro) c.16348A>C (p.Thr5450Pro) c.16270A>C (p.Thr5424Pro) c.16255A>C (p.Thr5419Pro) c.16171A>C (p.Thr5391Pro) c.9469A>C (p.Thr3157Pro) c.9448A>C (p.Thr3150Pro) n.16346A>C | |
5 | g.90823558A>G | CA360425705 | ADGRV1 | c.16330A>G (p.Thr5444Ala) c.5284A>G (p.Thr1762Ala) n.3597A>G c.265+147349A>G (n.265+147349A>G) n.128+1376A>G c.2740A>G (p.Thr914Ala) c.3313A>G (p.Thr1105Ala) n.16343A>G c.16327A>G (p.Thr5443Ala) c.16249A>G (p.Thr5417Ala) c.13633A>G (p.Thr4545Ala) c.16351A>G (p.Thr5451Ala) c.16348A>G (p.Thr5450Ala) c.16270A>G (p.Thr5424Ala) c.16255A>G (p.Thr5419Ala) c.16171A>G (p.Thr5391Ala) c.9469A>G (p.Thr3157Ala) c.9448A>G (p.Thr3150Ala) n.16346A>G | ClinVar dbSNP gnomAD v4 |
5 | g.90823558A>T | CA360425704 | ADGRV1 | c.16330A>T (p.Thr5444Ser) c.5284A>T (p.Thr1762Ser) n.3597A>T c.265+147349A>T (n.265+147349A>T) n.128+1376A>T c.2740A>T (p.Thr914Ser) c.3313A>T (p.Thr1105Ser) n.16343A>T c.16327A>T (p.Thr5443Ser) c.16249A>T (p.Thr5417Ser) c.13633A>T (p.Thr4545Ser) c.16351A>T (p.Thr5451Ser) c.16348A>T (p.Thr5450Ser) c.16270A>T (p.Thr5424Ser) c.16255A>T (p.Thr5419Ser) c.16171A>T (p.Thr5391Ser) c.9469A>T (p.Thr3157Ser) c.9448A>T (p.Thr3150Ser) n.16346A>T | |
5 | g.90823559C>A | CA247452 | ADGRV1 | c.16331C>A (p.Thr5444Lys) c.5285C>A (p.Thr1762Lys) n.3598C>A c.265+147350C>A (n.265+147350C>A) n.128+1377C>A c.2741C>A (p.Thr914Lys) c.3314C>A (p.Thr1105Lys) n.16344C>A c.16328C>A (p.Thr5443Lys) c.16250C>A (p.Thr5417Lys) c.13634C>A (p.Thr4545Lys) c.16352C>A (p.Thr5451Lys) c.16349C>A (p.Thr5450Lys) c.16271C>A (p.Thr5424Lys) c.16256C>A (p.Thr5419Lys) c.16172C>A (p.Thr5391Lys) c.9470C>A (p.Thr3157Lys) c.9449C>A (p.Thr3150Lys) n.16347C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823559C= | CA1562918309 | ADGRV1 | c.16331C= (p.Thr5444=) c.5285C= (p.Thr1762=) n.3598C= c.265+147350C= (n.265+147350C=) n.128+1377C= c.2741C= (p.Thr914=) c.3314C= (p.Thr1105=) n.16344C= c.16328C= (p.Thr5443=) c.16250C= (p.Thr5417=) c.13634C= (p.Thr4545=) c.16352C= (p.Thr5451=) c.16349C= (p.Thr5450=) c.16271C= (p.Thr5424=) c.16256C= (p.Thr5419=) c.16172C= (p.Thr5391=) c.9470C= (p.Thr3157=) c.9449C= (p.Thr3150=) n.16347C= | |
5 | g.90823559C>G | CA360425706 | ADGRV1 | c.16331C>G (p.Thr5444Arg) c.5285C>G (p.Thr1762Arg) n.3598C>G c.265+147350C>G (n.265+147350C>G) n.128+1377C>G c.2741C>G (p.Thr914Arg) c.3314C>G (p.Thr1105Arg) n.16344C>G c.16328C>G (p.Thr5443Arg) c.16250C>G (p.Thr5417Arg) c.13634C>G (p.Thr4545Arg) c.16352C>G (p.Thr5451Arg) c.16349C>G (p.Thr5450Arg) c.16271C>G (p.Thr5424Arg) c.16256C>G (p.Thr5419Arg) c.16172C>G (p.Thr5391Arg) c.9470C>G (p.Thr3157Arg) c.9449C>G (p.Thr3150Arg) n.16347C>G | |
5 | g.90823559C>T | CA360425707 | ADGRV1 | c.16331C>T (p.Thr5444Ile) c.5285C>T (p.Thr1762Ile) n.3598C>T c.265+147350C>T (n.265+147350C>T) n.128+1377C>T c.2741C>T (p.Thr914Ile) c.3314C>T (p.Thr1105Ile) n.16344C>T c.16328C>T (p.Thr5443Ile) c.16250C>T (p.Thr5417Ile) c.13634C>T (p.Thr4545Ile) c.16352C>T (p.Thr5451Ile) c.16349C>T (p.Thr5450Ile) c.16271C>T (p.Thr5424Ile) c.16256C>T (p.Thr5419Ile) c.16172C>T (p.Thr5391Ile) c.9470C>T (p.Thr3157Ile) c.9449C>T (p.Thr3150Ile) n.16347C>T | |
5 | g.90823560A>C | CA445436603 | ADGRV1 | c.16332A>C (p.Thr5444=) c.5286A>C (p.Thr1762=) n.3599A>C c.265+147351A>C (n.265+147351A>C) n.128+1378A>C c.2742A>C (p.Thr914=) c.3315A>C (p.Thr1105=) n.16345A>C c.16329A>C (p.Thr5443=) c.16251A>C (p.Thr5417=) c.13635A>C (p.Thr4545=) c.16353A>C (p.Thr5451=) c.16350A>C (p.Thr5450=) c.16272A>C (p.Thr5424=) c.16257A>C (p.Thr5419=) c.16173A>C (p.Thr5391=) c.9471A>C (p.Thr3157=) c.9450A>C (p.Thr3150=) n.16348A>C | |
5 | g.90823560A>G | CA445436604 | ADGRV1 | c.16332A>G (p.Thr5444=) c.5286A>G (p.Thr1762=) n.3599A>G c.265+147351A>G (n.265+147351A>G) n.128+1378A>G c.2742A>G (p.Thr914=) c.3315A>G (p.Thr1105=) n.16345A>G c.16329A>G (p.Thr5443=) c.16251A>G (p.Thr5417=) c.13635A>G (p.Thr4545=) c.16353A>G (p.Thr5451=) c.16350A>G (p.Thr5450=) c.16272A>G (p.Thr5424=) c.16257A>G (p.Thr5419=) c.16173A>G (p.Thr5391=) c.9471A>G (p.Thr3157=) c.9450A>G (p.Thr3150=) n.16348A>G | gnomAD v4 |
5 | g.90823560A>T | CA445436605 | ADGRV1 | c.16332A>T (p.Thr5444=) c.5286A>T (p.Thr1762=) n.3599A>T c.265+147351A>T (n.265+147351A>T) n.128+1378A>T c.2742A>T (p.Thr914=) c.3315A>T (p.Thr1105=) n.16345A>T c.16329A>T (p.Thr5443=) c.16251A>T (p.Thr5417=) c.13635A>T (p.Thr4545=) c.16353A>T (p.Thr5451=) c.16350A>T (p.Thr5450=) c.16272A>T (p.Thr5424=) c.16257A>T (p.Thr5419=) c.16173A>T (p.Thr5391=) c.9471A>T (p.Thr3157=) c.9450A>T (p.Thr3150=) n.16348A>T | |
5 | g.90823561A= | CA1562918310 | ADGRV1 | c.16333A= (p.Lys5445=) c.5287A= (p.Lys1763=) n.3600A= c.265+147352A= (n.265+147352A=) n.128+1379A= c.2743A= (p.Lys915=) c.3316A= (p.Lys1106=) n.16346A= c.16330A= (p.Lys5444=) c.16252A= (p.Lys5418=) c.13636A= (p.Lys4546=) c.16354A= (p.Lys5452=) c.16351A= (p.Lys5451=) c.16273A= (p.Lys5425=) c.16258A= (p.Lys5420=) c.16174A= (p.Lys5392=) c.9472A= (p.Lys3158=) c.9451A= (p.Lys3151=) n.16349A= | |
5 | g.90823561A>C | CA360425708 | ADGRV1 | c.16333A>C (p.Lys5445Gln) c.5287A>C (p.Lys1763Gln) n.3600A>C c.265+147352A>C (n.265+147352A>C) n.128+1379A>C c.2743A>C (p.Lys915Gln) c.3316A>C (p.Lys1106Gln) n.16346A>C c.16330A>C (p.Lys5444Gln) c.16252A>C (p.Lys5418Gln) c.13636A>C (p.Lys4546Gln) c.16354A>C (p.Lys5452Gln) c.16351A>C (p.Lys5451Gln) c.16273A>C (p.Lys5425Gln) c.16258A>C (p.Lys5420Gln) c.16174A>C (p.Lys5392Gln) c.9472A>C (p.Lys3158Gln) c.9451A>C (p.Lys3151Gln) n.16349A>C | |
5 | g.90823561A>G | CA360425709 | ADGRV1 | c.16333A>G (p.Lys5445Glu) c.5287A>G (p.Lys1763Glu) n.3600A>G c.265+147352A>G (n.265+147352A>G) n.128+1379A>G c.2743A>G (p.Lys915Glu) c.3316A>G (p.Lys1106Glu) n.16346A>G c.16330A>G (p.Lys5444Glu) c.16252A>G (p.Lys5418Glu) c.13636A>G (p.Lys4546Glu) c.16354A>G (p.Lys5452Glu) c.16351A>G (p.Lys5451Glu) c.16273A>G (p.Lys5425Glu) c.16258A>G (p.Lys5420Glu) c.16174A>G (p.Lys5392Glu) c.9472A>G (p.Lys3158Glu) c.9451A>G (p.Lys3151Glu) n.16349A>G | dbSNP |
5 | g.90823561A>T | CA360425710 | ADGRV1 | c.16333A>T (p.Lys5445Ter) c.5287A>T (p.Lys1763Ter) n.3600A>T c.265+147352A>T (n.265+147352A>T) n.128+1379A>T c.2743A>T (p.Lys915Ter) c.3316A>T (p.Lys1106Ter) n.16346A>T c.16330A>T (p.Lys5444Ter) c.16252A>T (p.Lys5418Ter) c.13636A>T (p.Lys4546Ter) c.16354A>T (p.Lys5452Ter) c.16351A>T (p.Lys5451Ter) c.16273A>T (p.Lys5425Ter) c.16258A>T (p.Lys5420Ter) c.16174A>T (p.Lys5392Ter) c.9472A>T (p.Lys3158Ter) c.9451A>T (p.Lys3151Ter) n.16349A>T | |
5 | g.90823562A= | CA1562918311 | ADGRV1 | c.16334A= (p.Lys5445=) c.5288A= (p.Lys1763=) n.3601A= c.265+147353A= (n.265+147353A=) n.128+1380A= c.2744A= (p.Lys915=) c.3317A= (p.Lys1106=) n.16347A= c.16331A= (p.Lys5444=) c.16253A= (p.Lys5418=) c.13637A= (p.Lys4546=) c.16355A= (p.Lys5452=) c.16352A= (p.Lys5451=) c.16274A= (p.Lys5425=) c.16259A= (p.Lys5420=) c.16175A= (p.Lys5392=) c.9473A= (p.Lys3158=) c.9452A= (p.Lys3151=) n.16350A= | |
5 | g.90823562A>C | CA360425711 | ADGRV1 | c.16334A>C (p.Lys5445Thr) c.5288A>C (p.Lys1763Thr) n.3601A>C c.265+147353A>C (n.265+147353A>C) n.128+1380A>C c.2744A>C (p.Lys915Thr) c.3317A>C (p.Lys1106Thr) n.16347A>C c.16331A>C (p.Lys5444Thr) c.16253A>C (p.Lys5418Thr) c.13637A>C (p.Lys4546Thr) c.16355A>C (p.Lys5452Thr) c.16352A>C (p.Lys5451Thr) c.16274A>C (p.Lys5425Thr) c.16259A>C (p.Lys5420Thr) c.16175A>C (p.Lys5392Thr) c.9473A>C (p.Lys3158Thr) c.9452A>C (p.Lys3151Thr) n.16350A>C | gnomAD v4 |
5 | g.90823562A>G | CA360425712 | ADGRV1 | c.16334A>G (p.Lys5445Arg) c.5288A>G (p.Lys1763Arg) n.3601A>G c.265+147353A>G (n.265+147353A>G) n.128+1380A>G c.2744A>G (p.Lys915Arg) c.3317A>G (p.Lys1106Arg) n.16347A>G c.16331A>G (p.Lys5444Arg) c.16253A>G (p.Lys5418Arg) c.13637A>G (p.Lys4546Arg) c.16355A>G (p.Lys5452Arg) c.16352A>G (p.Lys5451Arg) c.16274A>G (p.Lys5425Arg) c.16259A>G (p.Lys5420Arg) c.16175A>G (p.Lys5392Arg) c.9473A>G (p.Lys3158Arg) c.9452A>G (p.Lys3151Arg) n.16350A>G | |
5 | g.90823562A>T | CA360425713 | ADGRV1 | c.16334A>T (p.Lys5445Ile) c.5288A>T (p.Lys1763Ile) n.3601A>T c.265+147353A>T (n.265+147353A>T) n.128+1380A>T c.2744A>T (p.Lys915Ile) c.3317A>T (p.Lys1106Ile) n.16347A>T c.16331A>T (p.Lys5444Ile) c.16253A>T (p.Lys5418Ile) c.13637A>T (p.Lys4546Ile) c.16355A>T (p.Lys5452Ile) c.16352A>T (p.Lys5451Ile) c.16274A>T (p.Lys5425Ile) c.16259A>T (p.Lys5420Ile) c.16175A>T (p.Lys5392Ile) c.9473A>T (p.Lys3158Ile) c.9452A>T (p.Lys3151Ile) n.16350A>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.90823563A>C | CA360425714 | ADGRV1 | c.16335A>C (p.Lys5445Asn) c.5289A>C (p.Lys1763Asn) n.3602A>C c.265+147354A>C (n.265+147354A>C) n.128+1381A>C c.2745A>C (p.Lys915Asn) c.3318A>C (p.Lys1106Asn) n.16348A>C c.16332A>C (p.Lys5444Asn) c.16254A>C (p.Lys5418Asn) c.13638A>C (p.Lys4546Asn) c.16356A>C (p.Lys5452Asn) c.16353A>C (p.Lys5451Asn) c.16275A>C (p.Lys5425Asn) c.16260A>C (p.Lys5420Asn) c.16176A>C (p.Lys5392Asn) c.9474A>C (p.Lys3158Asn) c.9453A>C (p.Lys3151Asn) n.16351A>C | |
5 | g.90823563A>G | CA445436606 | ADGRV1 | c.16335A>G (p.Lys5445=) c.5289A>G (p.Lys1763=) n.3602A>G c.265+147354A>G (n.265+147354A>G) n.128+1381A>G c.2745A>G (p.Lys915=) c.3318A>G (p.Lys1106=) n.16348A>G c.16332A>G (p.Lys5444=) c.16254A>G (p.Lys5418=) c.13638A>G (p.Lys4546=) c.16356A>G (p.Lys5452=) c.16353A>G (p.Lys5451=) c.16275A>G (p.Lys5425=) c.16260A>G (p.Lys5420=) c.16176A>G (p.Lys5392=) c.9474A>G (p.Lys3158=) c.9453A>G (p.Lys3151=) n.16351A>G | |
5 | g.90823563A>T | CA360425715 | ADGRV1 | c.16335A>T (p.Lys5445Asn) c.5289A>T (p.Lys1763Asn) n.3602A>T c.265+147354A>T (n.265+147354A>T) n.128+1381A>T c.2745A>T (p.Lys915Asn) c.3318A>T (p.Lys1106Asn) n.16348A>T c.16332A>T (p.Lys5444Asn) c.16254A>T (p.Lys5418Asn) c.13638A>T (p.Lys4546Asn) c.16356A>T (p.Lys5452Asn) c.16353A>T (p.Lys5451Asn) c.16275A>T (p.Lys5425Asn) c.16260A>T (p.Lys5420Asn) c.16176A>T (p.Lys5392Asn) c.9474A>T (p.Lys3158Asn) c.9453A>T (p.Lys3151Asn) n.16351A>T | |
5 | g.90823564T>A | CA360425718 | ADGRV1 | c.16336T>A (p.Cys5446Ser) c.5290T>A (p.Cys1764Ser) n.3603T>A c.265+147355T>A (n.265+147355T>A) n.128+1382T>A c.2746T>A (p.Cys916Ser) c.3319T>A (p.Cys1107Ser) n.16349T>A c.16333T>A (p.Cys5445Ser) c.16255T>A (p.Cys5419Ser) c.13639T>A (p.Cys4547Ser) c.16357T>A (p.Cys5453Ser) c.16354T>A (p.Cys5452Ser) c.16276T>A (p.Cys5426Ser) c.16261T>A (p.Cys5421Ser) c.16177T>A (p.Cys5393Ser) c.9475T>A (p.Cys3159Ser) c.9454T>A (p.Cys3152Ser) n.16352T>A | |
5 | g.90823564T>C | CA360425716 | ADGRV1 | c.16336T>C (p.Cys5446Arg) c.5290T>C (p.Cys1764Arg) n.3603T>C c.265+147355T>C (n.265+147355T>C) n.128+1382T>C c.2746T>C (p.Cys916Arg) c.3319T>C (p.Cys1107Arg) n.16349T>C c.16333T>C (p.Cys5445Arg) c.16255T>C (p.Cys5419Arg) c.13639T>C (p.Cys4547Arg) c.16357T>C (p.Cys5453Arg) c.16354T>C (p.Cys5452Arg) c.16276T>C (p.Cys5426Arg) c.16261T>C (p.Cys5421Arg) c.16177T>C (p.Cys5393Arg) c.9475T>C (p.Cys3159Arg) c.9454T>C (p.Cys3152Arg) n.16352T>C | dbSNP |
5 | g.90823564T>G | CA360425717 | ADGRV1 | c.16336T>G (p.Cys5446Gly) c.5290T>G (p.Cys1764Gly) n.3603T>G c.265+147355T>G (n.265+147355T>G) n.128+1382T>G c.2746T>G (p.Cys916Gly) c.3319T>G (p.Cys1107Gly) n.16349T>G c.16333T>G (p.Cys5445Gly) c.16255T>G (p.Cys5419Gly) c.13639T>G (p.Cys4547Gly) c.16357T>G (p.Cys5453Gly) c.16354T>G (p.Cys5452Gly) c.16276T>G (p.Cys5426Gly) c.16261T>G (p.Cys5421Gly) c.16177T>G (p.Cys5393Gly) c.9475T>G (p.Cys3159Gly) c.9454T>G (p.Cys3152Gly) n.16352T>G | |
5 | g.90823564T= | CA1562918312 | ADGRV1 | c.16336T= (p.Cys5446=) c.5290T= (p.Cys1764=) n.3603T= c.265+147355T= (n.265+147355T=) n.128+1382T= c.2746T= (p.Cys916=) c.3319T= (p.Cys1107=) n.16349T= c.16333T= (p.Cys5445=) c.16255T= (p.Cys5419=) c.13639T= (p.Cys4547=) c.16357T= (p.Cys5453=) c.16354T= (p.Cys5452=) c.16276T= (p.Cys5426=) c.16261T= (p.Cys5421=) c.16177T= (p.Cys5393=) c.9475T= (p.Cys3159=) c.9454T= (p.Cys3152=) n.16352T= | |
5 | g.90823565G>A | CA360425719 | ADGRV1 | c.16337G>A (p.Cys5446Tyr) c.5291G>A (p.Cys1764Tyr) n.3604G>A c.265+147356G>A (n.265+147356G>A) n.128+1383G>A c.2747G>A (p.Cys916Tyr) c.3320G>A (p.Cys1107Tyr) n.16350G>A c.16334G>A (p.Cys5445Tyr) c.16256G>A (p.Cys5419Tyr) c.13640G>A (p.Cys4547Tyr) c.16358G>A (p.Cys5453Tyr) c.16355G>A (p.Cys5452Tyr) c.16277G>A (p.Cys5426Tyr) c.16262G>A (p.Cys5421Tyr) c.16178G>A (p.Cys5393Tyr) c.9476G>A (p.Cys3159Tyr) c.9455G>A (p.Cys3152Tyr) n.16353G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823565G>C | CA360425720 | ADGRV1 | c.16337G>C (p.Cys5446Ser) c.5291G>C (p.Cys1764Ser) n.3604G>C c.265+147356G>C (n.265+147356G>C) n.128+1383G>C c.2747G>C (p.Cys916Ser) c.3320G>C (p.Cys1107Ser) n.16350G>C c.16334G>C (p.Cys5445Ser) c.16256G>C (p.Cys5419Ser) c.13640G>C (p.Cys4547Ser) c.16358G>C (p.Cys5453Ser) c.16355G>C (p.Cys5452Ser) c.16277G>C (p.Cys5426Ser) c.16262G>C (p.Cys5421Ser) c.16178G>C (p.Cys5393Ser) c.9476G>C (p.Cys3159Ser) c.9455G>C (p.Cys3152Ser) n.16353G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.90823565G= | CA1562918313 | ADGRV1 | c.16337G= (p.Cys5446=) c.5291G= (p.Cys1764=) n.3604G= c.265+147356G= (n.265+147356G=) n.128+1383G= c.2747G= (p.Cys916=) c.3320G= (p.Cys1107=) n.16350G= c.16334G= (p.Cys5445=) c.16256G= (p.Cys5419=) c.13640G= (p.Cys4547=) c.16358G= (p.Cys5453=) c.16355G= (p.Cys5452=) c.16277G= (p.Cys5426=) c.16262G= (p.Cys5421=) c.16178G= (p.Cys5393=) c.9476G= (p.Cys3159=) c.9455G= (p.Cys3152=) n.16353G= | |
5 | g.90823565G>T | CA360425721 | ADGRV1 | c.16337G>T (p.Cys5446Phe) c.5291G>T (p.Cys1764Phe) n.3604G>T c.265+147356G>T (n.265+147356G>T) n.128+1383G>T c.2747G>T (p.Cys916Phe) c.3320G>T (p.Cys1107Phe) n.16350G>T c.16334G>T (p.Cys5445Phe) c.16256G>T (p.Cys5419Phe) c.13640G>T (p.Cys4547Phe) c.16358G>T (p.Cys5453Phe) c.16355G>T (p.Cys5452Phe) c.16277G>T (p.Cys5426Phe) c.16262G>T (p.Cys5421Phe) c.16178G>T (p.Cys5393Phe) c.9476G>T (p.Cys3159Phe) c.9455G>T (p.Cys3152Phe) n.16353G>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90823566C>A | CA360425722 | ADGRV1 | c.16338C>A (p.Cys5446Ter) c.5292C>A (p.Cys1764Ter) n.3605C>A c.265+147357C>A (n.265+147357C>A) n.128+1384C>A c.2748C>A (p.Cys916Ter) c.3321C>A (p.Cys1107Ter) n.16351C>A c.16335C>A (p.Cys5445Ter) c.16257C>A (p.Cys5419Ter) c.13641C>A (p.Cys4547Ter) c.16359C>A (p.Cys5453Ter) c.16356C>A (p.Cys5452Ter) c.16278C>A (p.Cys5426Ter) c.16263C>A (p.Cys5421Ter) c.16179C>A (p.Cys5393Ter) c.9477C>A (p.Cys3159Ter) c.9456C>A (p.Cys3152Ter) n.16354C>A | |
5 | g.90823566C= | CA1562918314 | ADGRV1 | c.16338C= (p.Cys5446=) c.5292C= (p.Cys1764=) n.3605C= c.265+147357C= (n.265+147357C=) n.128+1384C= c.2748C= (p.Cys916=) c.3321C= (p.Cys1107=) n.16351C= c.16335C= (p.Cys5445=) c.16257C= (p.Cys5419=) c.13641C= (p.Cys4547=) c.16359C= (p.Cys5453=) c.16356C= (p.Cys5452=) c.16278C= (p.Cys5426=) c.16263C= (p.Cys5421=) c.16179C= (p.Cys5393=) c.9477C= (p.Cys3159=) c.9456C= (p.Cys3152=) n.16354C= | |
5 | g.90823566C>G | CA360425723 | ADGRV1 | c.16338C>G (p.Cys5446Trp) c.5292C>G (p.Cys1764Trp) n.3605C>G c.265+147357C>G (n.265+147357C>G) n.128+1384C>G c.2748C>G (p.Cys916Trp) c.3321C>G (p.Cys1107Trp) n.16351C>G c.16335C>G (p.Cys5445Trp) c.16257C>G (p.Cys5419Trp) c.13641C>G (p.Cys4547Trp) c.16359C>G (p.Cys5453Trp) c.16356C>G (p.Cys5452Trp) c.16278C>G (p.Cys5426Trp) c.16263C>G (p.Cys5421Trp) c.16179C>G (p.Cys5393Trp) c.9477C>G (p.Cys3159Trp) c.9456C>G (p.Cys3152Trp) n.16354C>G | |
5 | g.90823566C>T | CA445436607 | ADGRV1 | c.16338C>T (p.Cys5446=) c.5292C>T (p.Cys1764=) n.3605C>T c.265+147357C>T (n.265+147357C>T) n.128+1384C>T c.2748C>T (p.Cys916=) c.3321C>T (p.Cys1107=) n.16351C>T c.16335C>T (p.Cys5445=) c.16257C>T (p.Cys5419=) c.13641C>T (p.Cys4547=) c.16359C>T (p.Cys5453=) c.16356C>T (p.Cys5452=) c.16278C>T (p.Cys5426=) c.16263C>T (p.Cys5421=) c.16179C>T (p.Cys5393=) c.9477C>T (p.Cys3159=) c.9456C>T (p.Cys3152=) n.16354C>T | dbSNP |
5 | g.90823567T>A | CA360425724 | ADGRV1 | c.16339T>A (p.Phe5447Ile) c.5293T>A (p.Phe1765Ile) n.3606T>A c.265+147358T>A (n.265+147358T>A) n.128+1385T>A c.2749T>A (p.Phe917Ile) c.3322T>A (p.Phe1108Ile) n.16352T>A c.16336T>A (p.Phe5446Ile) c.16258T>A (p.Phe5420Ile) c.13642T>A (p.Phe4548Ile) c.16360T>A (p.Phe5454Ile) c.16357T>A (p.Phe5453Ile) c.16279T>A (p.Phe5427Ile) c.16264T>A (p.Phe5422Ile) c.16180T>A (p.Phe5394Ile) c.9478T>A (p.Phe3160Ile) c.9457T>A (p.Phe3153Ile) n.16355T>A | |
5 | g.90823567T>C | CA3342117 | ADGRV1 | c.16339T>C (p.Phe5447Leu) c.5293T>C (p.Phe1765Leu) n.3606T>C c.265+147358T>C (n.265+147358T>C) n.128+1385T>C c.2749T>C (p.Phe917Leu) c.3322T>C (p.Phe1108Leu) n.16352T>C c.16336T>C (p.Phe5446Leu) c.16258T>C (p.Phe5420Leu) c.13642T>C (p.Phe4548Leu) c.16360T>C (p.Phe5454Leu) c.16357T>C (p.Phe5453Leu) c.16279T>C (p.Phe5427Leu) c.16264T>C (p.Phe5422Leu) c.16180T>C (p.Phe5394Leu) c.9478T>C (p.Phe3160Leu) c.9457T>C (p.Phe3153Leu) n.16355T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90823567T>G | CA360425725 | ADGRV1 | c.16339T>G (p.Phe5447Val) c.5293T>G (p.Phe1765Val) n.3606T>G c.265+147358T>G (n.265+147358T>G) n.128+1385T>G c.2749T>G (p.Phe917Val) c.3322T>G (p.Phe1108Val) n.16352T>G c.16336T>G (p.Phe5446Val) c.16258T>G (p.Phe5420Val) c.13642T>G (p.Phe4548Val) c.16360T>G (p.Phe5454Val) c.16357T>G (p.Phe5453Val) c.16279T>G (p.Phe5427Val) c.16264T>G (p.Phe5422Val) c.16180T>G (p.Phe5394Val) c.9478T>G (p.Phe3160Val) c.9457T>G (p.Phe3153Val) n.16355T>G | |
5 | g.90823567T= | CA1562918315 | ADGRV1 | c.16339T= (p.Phe5447=) c.5293T= (p.Phe1765=) n.3606T= c.265+147358T= (n.265+147358T=) n.128+1385T= c.2749T= (p.Phe917=) c.3322T= (p.Phe1108=) n.16352T= c.16336T= (p.Phe5446=) c.16258T= (p.Phe5420=) c.13642T= (p.Phe4548=) c.16360T= (p.Phe5454=) c.16357T= (p.Phe5453=) c.16279T= (p.Phe5427=) c.16264T= (p.Phe5422=) c.16180T= (p.Phe5394=) c.9478T= (p.Phe3160=) c.9457T= (p.Phe3153=) n.16355T= | |
5 | g.90823567_90823568insGATAAAGCA | CA2839161355 | ADGRV1 | c.16339_16340insGATAAAGCA (p.Phe5447Ter) c.5293_5294insGATAAAGCA (p.Phe1765Ter) n.3606_3607insGATAAAGCA c.265+147358_265+147359insGATAAAGCA (n.265+147358_265+147359insGATAAAGCA) n.128+1385_128+1386insGATAAAGCA c.2749_2750insGATAAAGCA (p.Phe917Ter) c.3322_3323insGATAAAGCA (p.Phe1108Ter) n.16352_16353insGATAAAGCA c.16336_16337insGATAAAGCA (p.Phe5446Ter) c.16258_16259insGATAAAGCA (p.Phe5420Ter) c.13642_13643insGATAAAGCA (p.Phe4548Ter) c.16360_16361insGATAAAGCA (p.Phe5454Ter) c.16357_16358insGATAAAGCA (p.Phe5453Ter) c.16279_16280insGATAAAGCA (p.Phe5427Ter) c.16264_16265insGATAAAGCA (p.Phe5422Ter) c.16180_16181insGATAAAGCA (p.Phe5394Ter) c.9478_9479insGATAAAGCA (p.Phe3160Ter) c.9457_9458insGATAAAGCA (p.Phe3153Ter) n.16355_16356insGATAAAGCA | |
5 | g.90823568T>A | CA360425726 | ADGRV1 | c.16340T>A (p.Phe5447Tyr) c.5294T>A (p.Phe1765Tyr) n.3607T>A c.265+147359T>A (n.265+147359T>A) n.128+1386T>A c.2750T>A (p.Phe917Tyr) c.3323T>A (p.Phe1108Tyr) n.16353T>A c.16337T>A (p.Phe5446Tyr) c.16259T>A (p.Phe5420Tyr) c.13643T>A (p.Phe4548Tyr) c.16361T>A (p.Phe5454Tyr) c.16358T>A (p.Phe5453Tyr) c.16280T>A (p.Phe5427Tyr) c.16265T>A (p.Phe5422Tyr) c.16181T>A (p.Phe5394Tyr) c.9479T>A (p.Phe3160Tyr) c.9458T>A (p.Phe3153Tyr) n.16356T>A | |
5 | g.90823568T>C | CA360425727 | ADGRV1 | c.16340T>C (p.Phe5447Ser) c.5294T>C (p.Phe1765Ser) n.3607T>C c.265+147359T>C (n.265+147359T>C) n.128+1386T>C c.2750T>C (p.Phe917Ser) c.3323T>C (p.Phe1108Ser) n.16353T>C c.16337T>C (p.Phe5446Ser) c.16259T>C (p.Phe5420Ser) c.13643T>C (p.Phe4548Ser) c.16361T>C (p.Phe5454Ser) c.16358T>C (p.Phe5453Ser) c.16280T>C (p.Phe5427Ser) c.16265T>C (p.Phe5422Ser) c.16181T>C (p.Phe5394Ser) c.9479T>C (p.Phe3160Ser) c.9458T>C (p.Phe3153Ser) n.16356T>C | |
5 | g.90823568T>G | CA360425728 | ADGRV1 | c.16340T>G (p.Phe5447Cys) c.5294T>G (p.Phe1765Cys) n.3607T>G c.265+147359T>G (n.265+147359T>G) n.128+1386T>G c.2750T>G (p.Phe917Cys) c.3323T>G (p.Phe1108Cys) n.16353T>G c.16337T>G (p.Phe5446Cys) c.16259T>G (p.Phe5420Cys) c.13643T>G (p.Phe4548Cys) c.16361T>G (p.Phe5454Cys) c.16358T>G (p.Phe5453Cys) c.16280T>G (p.Phe5427Cys) c.16265T>G (p.Phe5422Cys) c.16181T>G (p.Phe5394Cys) c.9479T>G (p.Phe3160Cys) c.9458T>G (p.Phe3153Cys) n.16356T>G | ClinVar dbSNP |
5 | g.90823568T= | CA1562918316 | ADGRV1 | c.16340T= (p.Phe5447=) c.5294T= (p.Phe1765=) n.3607T= c.265+147359T= (n.265+147359T=) n.128+1386T= c.2750T= (p.Phe917=) c.3323T= (p.Phe1108=) n.16353T= c.16337T= (p.Phe5446=) c.16259T= (p.Phe5420=) c.13643T= (p.Phe4548=) c.16361T= (p.Phe5454=) c.16358T= (p.Phe5453=) c.16280T= (p.Phe5427=) c.16265T= (p.Phe5422=) c.16181T= (p.Phe5394=) c.9479T= (p.Phe3160=) c.9458T= (p.Phe3153=) n.16356T= | |
5 | g.90823569T>A | CA360425730 | ADGRV1 | c.16341T>A (p.Phe5447Leu) c.5295T>A (p.Phe1765Leu) n.3608T>A c.265+147360T>A (n.265+147360T>A) n.128+1387T>A c.2751T>A (p.Phe917Leu) c.3324T>A (p.Phe1108Leu) n.16354T>A c.16338T>A (p.Phe5446Leu) c.16260T>A (p.Phe5420Leu) c.13644T>A (p.Phe4548Leu) c.16362T>A (p.Phe5454Leu) c.16359T>A (p.Phe5453Leu) c.16281T>A (p.Phe5427Leu) c.16266T>A (p.Phe5422Leu) c.16182T>A (p.Phe5394Leu) c.9480T>A (p.Phe3160Leu) c.9459T>A (p.Phe3153Leu) n.16357T>A | |
5 | g.90823569T>C | CA445436608 | ADGRV1 | c.16341T>C (p.Phe5447=) c.5295T>C (p.Phe1765=) n.3608T>C c.265+147360T>C (n.265+147360T>C) n.128+1387T>C c.2751T>C (p.Phe917=) c.3324T>C (p.Phe1108=) n.16354T>C c.16338T>C (p.Phe5446=) c.16260T>C (p.Phe5420=) c.13644T>C (p.Phe4548=) c.16362T>C (p.Phe5454=) c.16359T>C (p.Phe5453=) c.16281T>C (p.Phe5427=) c.16266T>C (p.Phe5422=) c.16182T>C (p.Phe5394=) c.9480T>C (p.Phe3160=) c.9459T>C (p.Phe3153=) n.16357T>C | |
5 | g.90823569T>G | CA360425729 | ADGRV1 | c.16341T>G (p.Phe5447Leu) c.5295T>G (p.Phe1765Leu) n.3608T>G c.265+147360T>G (n.265+147360T>G) n.128+1387T>G c.2751T>G (p.Phe917Leu) c.3324T>G (p.Phe1108Leu) n.16354T>G c.16338T>G (p.Phe5446Leu) c.16260T>G (p.Phe5420Leu) c.13644T>G (p.Phe4548Leu) c.16362T>G (p.Phe5454Leu) c.16359T>G (p.Phe5453Leu) c.16281T>G (p.Phe5427Leu) c.16266T>G (p.Phe5422Leu) c.16182T>G (p.Phe5394Leu) c.9480T>G (p.Phe3160Leu) c.9459T>G (p.Phe3153Leu) n.16357T>G | |
5 | g.90823570A= | CA1562918317 | ADGRV1 | c.16342A= (p.Ile5448=) c.5296A= (p.Ile1766=) n.3609A= c.265+147361A= (n.265+147361A=) n.128+1388A= c.2752A= (p.Ile918=) c.3325A= (p.Ile1109=) n.16355A= c.16339A= (p.Ile5447=) c.16261A= (p.Ile5421=) c.13645A= (p.Ile4549=) c.16363A= (p.Ile5455=) c.16360A= (p.Ile5454=) c.16282A= (p.Ile5428=) c.16267A= (p.Ile5423=) c.16183A= (p.Ile5395=) c.9481A= (p.Ile3161=) c.9460A= (p.Ile3154=) n.16358A= | |
5 | g.90823570A>C | CA360425731 | ADGRV1 | c.16342A>C (p.Ile5448Leu) c.5296A>C (p.Ile1766Leu) n.3609A>C c.265+147361A>C (n.265+147361A>C) n.128+1388A>C c.2752A>C (p.Ile918Leu) c.3325A>C (p.Ile1109Leu) n.16355A>C c.16339A>C (p.Ile5447Leu) c.16261A>C (p.Ile5421Leu) c.13645A>C (p.Ile4549Leu) c.16363A>C (p.Ile5455Leu) c.16360A>C (p.Ile5454Leu) c.16282A>C (p.Ile5428Leu) c.16267A>C (p.Ile5423Leu) c.16183A>C (p.Ile5395Leu) c.9481A>C (p.Ile3161Leu) c.9460A>C (p.Ile3154Leu) n.16358A>C | ClinVar dbSNP gnomAD v4 |
5 | g.90823570A>G | CA360425732 | ADGRV1 | c.16342A>G (p.Ile5448Val) c.5296A>G (p.Ile1766Val) n.3609A>G c.265+147361A>G (n.265+147361A>G) n.128+1388A>G c.2752A>G (p.Ile918Val) c.3325A>G (p.Ile1109Val) n.16355A>G c.16339A>G (p.Ile5447Val) c.16261A>G (p.Ile5421Val) c.13645A>G (p.Ile4549Val) c.16363A>G (p.Ile5455Val) c.16360A>G (p.Ile5454Val) c.16282A>G (p.Ile5428Val) c.16267A>G (p.Ile5423Val) c.16183A>G (p.Ile5395Val) c.9481A>G (p.Ile3161Val) c.9460A>G (p.Ile3154Val) n.16358A>G | dbSNP |
5 | g.90823570A>T | CA360425733 | ADGRV1 | c.16342A>T (p.Ile5448Phe) c.5296A>T (p.Ile1766Phe) n.3609A>T c.265+147361A>T (n.265+147361A>T) n.128+1388A>T c.2752A>T (p.Ile918Phe) c.3325A>T (p.Ile1109Phe) n.16355A>T c.16339A>T (p.Ile5447Phe) c.16261A>T (p.Ile5421Phe) c.13645A>T (p.Ile4549Phe) c.16363A>T (p.Ile5455Phe) c.16360A>T (p.Ile5454Phe) c.16282A>T (p.Ile5428Phe) c.16267A>T (p.Ile5423Phe) c.16183A>T (p.Ile5395Phe) c.9481A>T (p.Ile3161Phe) c.9460A>T (p.Ile3154Phe) n.16358A>T | |
5 | g.90823571T>A | CA360425734 | ADGRV1 | c.16343T>A (p.Ile5448Asn) c.5297T>A (p.Ile1766Asn) n.3610T>A c.265+147362T>A (n.265+147362T>A) n.128+1389T>A c.2753T>A (p.Ile918Asn) c.3326T>A (p.Ile1109Asn) n.16356T>A c.16340T>A (p.Ile5447Asn) c.16262T>A (p.Ile5421Asn) c.13646T>A (p.Ile4549Asn) c.16364T>A (p.Ile5455Asn) c.16361T>A (p.Ile5454Asn) c.16283T>A (p.Ile5428Asn) c.16268T>A (p.Ile5423Asn) c.16184T>A (p.Ile5395Asn) c.9482T>A (p.Ile3161Asn) c.9461T>A (p.Ile3154Asn) n.16359T>A | |
5 | g.90823571T>C | CA360425735 | ADGRV1 | c.16343T>C (p.Ile5448Thr) c.5297T>C (p.Ile1766Thr) n.3610T>C c.265+147362T>C (n.265+147362T>C) n.128+1389T>C c.2753T>C (p.Ile918Thr) c.3326T>C (p.Ile1109Thr) n.16356T>C c.16340T>C (p.Ile5447Thr) c.16262T>C (p.Ile5421Thr) c.13646T>C (p.Ile4549Thr) c.16364T>C (p.Ile5455Thr) c.16361T>C (p.Ile5454Thr) c.16283T>C (p.Ile5428Thr) c.16268T>C (p.Ile5423Thr) c.16184T>C (p.Ile5395Thr) c.9482T>C (p.Ile3161Thr) c.9461T>C (p.Ile3154Thr) n.16359T>C | |
5 | g.90823571T>G | CA360425736 | ADGRV1 | c.16343T>G (p.Ile5448Ser) c.5297T>G (p.Ile1766Ser) n.3610T>G c.265+147362T>G (n.265+147362T>G) n.128+1389T>G c.2753T>G (p.Ile918Ser) c.3326T>G (p.Ile1109Ser) n.16356T>G c.16340T>G (p.Ile5447Ser) c.16262T>G (p.Ile5421Ser) c.13646T>G (p.Ile4549Ser) c.16364T>G (p.Ile5455Ser) c.16361T>G (p.Ile5454Ser) c.16283T>G (p.Ile5428Ser) c.16268T>G (p.Ile5423Ser) c.16184T>G (p.Ile5395Ser) c.9482T>G (p.Ile3161Ser) c.9461T>G (p.Ile3154Ser) n.16359T>G | |
5 | g.90823571_90823572insGTTTGA | CA2840888068 | ADGRV1 | c.16343_16344insGTTTGA (p.Ile5448delinsMetPheAsp) c.5297_5298insGTTTGA (p.Ile1766delinsMetPheAsp) n.3610_3611insGTTTGA c.265+147362_265+147363insGTTTGA (n.265+147362_265+147363insGTTTGA) n.128+1389_128+1390insGTTTGA c.2753_2754insGTTTGA (p.Ile918delinsMetPheAsp) c.3326_3327insGTTTGA (p.Ile1109delinsMetPheAsp) n.16356_16357insGTTTGA c.16340_16341insGTTTGA (p.Ile5447delinsMetPheAsp) c.16262_16263insGTTTGA (p.Ile5421delinsMetPheAsp) c.13646_13647insGTTTGA (p.Ile4549delinsMetPheAsp) c.16364_16365insGTTTGA (p.Ile5455delinsMetPheAsp) c.16361_16362insGTTTGA (p.Ile5454delinsMetPheAsp) c.16283_16284insGTTTGA (p.Ile5428delinsMetPheAsp) c.16268_16269insGTTTGA (p.Ile5423delinsMetPheAsp) c.16184_16185insGTTTGA (p.Ile5395delinsMetPheAsp) c.9482_9483insGTTTGA (p.Ile3161delinsMetPheAsp) c.9461_9462insGTTTGA (p.Ile3154delinsMetPheAsp) n.16359_16360insGTTTGA | |
5 | g.90823572C>A | CA445436610 | ADGRV1 | c.16344C>A (p.Ile5448=) c.5298C>A (p.Ile1766=) n.3611C>A c.265+147363C>A (n.265+147363C>A) n.128+1390C>A c.2754C>A (p.Ile918=) c.3327C>A (p.Ile1109=) n.16357C>A c.16341C>A (p.Ile5447=) c.16263C>A (p.Ile5421=) c.13647C>A (p.Ile4549=) c.16365C>A (p.Ile5455=) c.16362C>A (p.Ile5454=) c.16284C>A (p.Ile5428=) c.16269C>A (p.Ile5423=) c.16185C>A (p.Ile5395=) c.9483C>A (p.Ile3161=) c.9462C>A (p.Ile3154=) n.16360C>A | gnomAD v4 |
5 | g.90823572C>G | CA360425737 | ADGRV1 | c.16344C>G (p.Ile5448Met) c.5298C>G (p.Ile1766Met) n.3611C>G c.265+147363C>G (n.265+147363C>G) n.128+1390C>G c.2754C>G (p.Ile918Met) c.3327C>G (p.Ile1109Met) n.16357C>G c.16341C>G (p.Ile5447Met) c.16263C>G (p.Ile5421Met) c.13647C>G (p.Ile4549Met) c.16365C>G (p.Ile5455Met) c.16362C>G (p.Ile5454Met) c.16284C>G (p.Ile5428Met) c.16269C>G (p.Ile5423Met) c.16185C>G (p.Ile5395Met) c.9483C>G (p.Ile3161Met) c.9462C>G (p.Ile3154Met) n.16360C>G | |
5 | g.90823572C>T | CA445436609 | ADGRV1 | c.16344C>T (p.Ile5448=) c.5298C>T (p.Ile1766=) n.3611C>T c.265+147363C>T (n.265+147363C>T) n.128+1390C>T c.2754C>T (p.Ile918=) c.3327C>T (p.Ile1109=) n.16357C>T c.16341C>T (p.Ile5447=) c.16263C>T (p.Ile5421=) c.13647C>T (p.Ile4549=) c.16365C>T (p.Ile5455=) c.16362C>T (p.Ile5454=) c.16284C>T (p.Ile5428=) c.16269C>T (p.Ile5423=) c.16185C>T (p.Ile5395=) c.9483C>T (p.Ile3161=) c.9462C>T (p.Ile3154=) n.16360C>T | |
5 | g.90823573A= | CA1562918318 | ADGRV1 | c.16345A= (p.Ser5449=) c.5299A= (p.Ser1767=) n.3612A= c.265+147364A= (n.265+147364A=) n.128+1391A= c.2755A= (p.Ser919=) c.3328A= (p.Ser1110=) n.16358A= c.16342A= (p.Ser5448=) c.16264A= (p.Ser5422=) c.13648A= (p.Ser4550=) c.16366A= (p.Ser5456=) c.16363A= (p.Ser5455=) c.16285A= (p.Ser5429=) c.16270A= (p.Ser5424=) c.16186A= (p.Ser5396=) c.9484A= (p.Ser3162=) c.9463A= (p.Ser3155=) n.16361A= | |
5 | g.90823573A>C | CA360425738 | ADGRV1 | c.16345A>C (p.Ser5449Arg) c.5299A>C (p.Ser1767Arg) n.3612A>C c.265+147364A>C (n.265+147364A>C) n.128+1391A>C c.2755A>C (p.Ser919Arg) c.3328A>C (p.Ser1110Arg) n.16358A>C c.16342A>C (p.Ser5448Arg) c.16264A>C (p.Ser5422Arg) c.13648A>C (p.Ser4550Arg) c.16366A>C (p.Ser5456Arg) c.16363A>C (p.Ser5455Arg) c.16285A>C (p.Ser5429Arg) c.16270A>C (p.Ser5424Arg) c.16186A>C (p.Ser5396Arg) c.9484A>C (p.Ser3162Arg) c.9463A>C (p.Ser3155Arg) n.16361A>C | |
5 | g.90823573A>G | CA3342118 | ADGRV1 | c.16345A>G (p.Ser5449Gly) c.5299A>G (p.Ser1767Gly) n.3612A>G c.265+147364A>G (n.265+147364A>G) n.128+1391A>G c.2755A>G (p.Ser919Gly) c.3328A>G (p.Ser1110Gly) n.16358A>G c.16342A>G (p.Ser5448Gly) c.16264A>G (p.Ser5422Gly) c.13648A>G (p.Ser4550Gly) c.16366A>G (p.Ser5456Gly) c.16363A>G (p.Ser5455Gly) c.16285A>G (p.Ser5429Gly) c.16270A>G (p.Ser5424Gly) c.16186A>G (p.Ser5396Gly) c.9484A>G (p.Ser3162Gly) c.9463A>G (p.Ser3155Gly) n.16361A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90823573A>T | CA360425739 | ADGRV1 | c.16345A>T (p.Ser5449Cys) c.5299A>T (p.Ser1767Cys) n.3612A>T c.265+147364A>T (n.265+147364A>T) n.128+1391A>T c.2755A>T (p.Ser919Cys) c.3328A>T (p.Ser1110Cys) n.16358A>T c.16342A>T (p.Ser5448Cys) c.16264A>T (p.Ser5422Cys) c.13648A>T (p.Ser4550Cys) c.16366A>T (p.Ser5456Cys) c.16363A>T (p.Ser5455Cys) c.16285A>T (p.Ser5429Cys) c.16270A>T (p.Ser5424Cys) c.16186A>T (p.Ser5396Cys) c.9484A>T (p.Ser3162Cys) c.9463A>T (p.Ser3155Cys) n.16361A>T | |
5 | g.90823574G>A | CA360425740 | ADGRV1 | c.16346G>A (p.Ser5449Asn) c.5300G>A (p.Ser1767Asn) n.3613G>A c.265+147365G>A (n.265+147365G>A) n.128+1392G>A c.2756G>A (p.Ser919Asn) c.3329G>A (p.Ser1110Asn) n.16359G>A c.16343G>A (p.Ser5448Asn) c.16265G>A (p.Ser5422Asn) c.13649G>A (p.Ser4550Asn) c.16367G>A (p.Ser5456Asn) c.16364G>A (p.Ser5455Asn) c.16286G>A (p.Ser5429Asn) c.16271G>A (p.Ser5424Asn) c.16187G>A (p.Ser5396Asn) c.9485G>A (p.Ser3162Asn) c.9464G>A (p.Ser3155Asn) n.16362G>A | |
5 | g.90823574G>C | CA360425741 | ADGRV1 | c.16346G>C (p.Ser5449Thr) c.5300G>C (p.Ser1767Thr) n.3613G>C c.265+147365G>C (n.265+147365G>C) n.128+1392G>C c.2756G>C (p.Ser919Thr) c.3329G>C (p.Ser1110Thr) n.16359G>C c.16343G>C (p.Ser5448Thr) c.16265G>C (p.Ser5422Thr) c.13649G>C (p.Ser4550Thr) c.16367G>C (p.Ser5456Thr) c.16364G>C (p.Ser5455Thr) c.16286G>C (p.Ser5429Thr) c.16271G>C (p.Ser5424Thr) c.16187G>C (p.Ser5396Thr) c.9485G>C (p.Ser3162Thr) c.9464G>C (p.Ser3155Thr) n.16362G>C | ClinVar dbSNP |
5 | g.90823574G= | CA1562918319 | ADGRV1 | c.16346G= (p.Ser5449=) c.5300G= (p.Ser1767=) n.3613G= c.265+147365G= (n.265+147365G=) n.128+1392G= c.2756G= (p.Ser919=) c.3329G= (p.Ser1110=) n.16359G= c.16343G= (p.Ser5448=) c.16265G= (p.Ser5422=) c.13649G= (p.Ser4550=) c.16367G= (p.Ser5456=) c.16364G= (p.Ser5455=) c.16286G= (p.Ser5429=) c.16271G= (p.Ser5424=) c.16187G= (p.Ser5396=) c.9485G= (p.Ser3162=) c.9464G= (p.Ser3155=) n.16362G= | |
5 | g.90823574G>T | CA360425742 | ADGRV1 | c.16346G>T (p.Ser5449Ile) c.5300G>T (p.Ser1767Ile) n.3613G>T c.265+147365G>T (n.265+147365G>T) n.128+1392G>T c.2756G>T (p.Ser919Ile) c.3329G>T (p.Ser1110Ile) n.16359G>T c.16343G>T (p.Ser5448Ile) c.16265G>T (p.Ser5422Ile) c.13649G>T (p.Ser4550Ile) c.16367G>T (p.Ser5456Ile) c.16364G>T (p.Ser5455Ile) c.16286G>T (p.Ser5429Ile) c.16271G>T (p.Ser5424Ile) c.16187G>T (p.Ser5396Ile) c.9485G>T (p.Ser3162Ile) c.9464G>T (p.Ser3155Ile) n.16362G>T | |
5 | g.90823575C>A | CA360425744 | ADGRV1 | c.16347C>A (p.Ser5449Arg) c.5301C>A (p.Ser1767Arg) n.3614C>A c.265+147366C>A (n.265+147366C>A) n.128+1393C>A c.2757C>A (p.Ser919Arg) c.3330C>A (p.Ser1110Arg) n.16360C>A c.16344C>A (p.Ser5448Arg) c.16266C>A (p.Ser5422Arg) c.13650C>A (p.Ser4550Arg) c.16368C>A (p.Ser5456Arg) c.16365C>A (p.Ser5455Arg) c.16287C>A (p.Ser5429Arg) c.16272C>A (p.Ser5424Arg) c.16188C>A (p.Ser5396Arg) c.9486C>A (p.Ser3162Arg) c.9465C>A (p.Ser3155Arg) n.16363C>A | |
5 | g.90823575C= | CA1562918320 | ADGRV1 | c.16347C= (p.Ser5449=) c.5301C= (p.Ser1767=) n.3614C= c.265+147366C= (n.265+147366C=) n.128+1393C= c.2757C= (p.Ser919=) c.3330C= (p.Ser1110=) n.16360C= c.16344C= (p.Ser5448=) c.16266C= (p.Ser5422=) c.13650C= (p.Ser4550=) c.16368C= (p.Ser5456=) c.16365C= (p.Ser5455=) c.16287C= (p.Ser5429=) c.16272C= (p.Ser5424=) c.16188C= (p.Ser5396=) c.9486C= (p.Ser3162=) c.9465C= (p.Ser3155=) n.16363C= | |
5 | g.90823575C>G | CA360425743 | ADGRV1 | c.16347C>G (p.Ser5449Arg) c.5301C>G (p.Ser1767Arg) n.3614C>G c.265+147366C>G (n.265+147366C>G) n.128+1393C>G c.2757C>G (p.Ser919Arg) c.3330C>G (p.Ser1110Arg) n.16360C>G c.16344C>G (p.Ser5448Arg) c.16266C>G (p.Ser5422Arg) c.13650C>G (p.Ser4550Arg) c.16368C>G (p.Ser5456Arg) c.16365C>G (p.Ser5455Arg) c.16287C>G (p.Ser5429Arg) c.16272C>G (p.Ser5424Arg) c.16188C>G (p.Ser5396Arg) c.9486C>G (p.Ser3162Arg) c.9465C>G (p.Ser3155Arg) n.16363C>G | |
5 | g.90823575C>T | CA3342119 | ADGRV1 | c.16347C>T (p.Ser5449=) c.5301C>T (p.Ser1767=) n.3614C>T c.265+147366C>T (n.265+147366C>T) n.128+1393C>T c.2757C>T (p.Ser919=) c.3330C>T (p.Ser1110=) n.16360C>T c.16344C>T (p.Ser5448=) c.16266C>T (p.Ser5422=) c.13650C>T (p.Ser4550=) c.16368C>T (p.Ser5456=) c.16365C>T (p.Ser5455=) c.16287C>T (p.Ser5429=) c.16272C>T (p.Ser5424=) c.16188C>T (p.Ser5396=) c.9486C>T (p.Ser3162=) c.9465C>T (p.Ser3155=) n.16363C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90823576A>C | CA360425745 | ADGRV1 | c.16348A>C (p.Ile5450Leu) c.5302A>C (p.Ile1768Leu) n.3615A>C c.265+147367A>C (n.265+147367A>C) n.128+1394A>C c.2758A>C (p.Ile920Leu) c.3331A>C (p.Ile1111Leu) n.16361A>C c.16345A>C (p.Ile5449Leu) c.16267A>C (p.Ile5423Leu) c.13651A>C (p.Ile4551Leu) c.16369A>C (p.Ile5457Leu) c.16366A>C (p.Ile5456Leu) c.16288A>C (p.Ile5430Leu) c.16273A>C (p.Ile5425Leu) c.16189A>C (p.Ile5397Leu) c.9487A>C (p.Ile3163Leu) c.9466A>C (p.Ile3156Leu) n.16364A>C | gnomAD v4 |
5 | g.90823576A>G | CA360425746 | ADGRV1 | c.16348A>G (p.Ile5450Val) c.5302A>G (p.Ile1768Val) n.3615A>G c.265+147367A>G (n.265+147367A>G) n.128+1394A>G c.2758A>G (p.Ile920Val) c.3331A>G (p.Ile1111Val) n.16361A>G c.16345A>G (p.Ile5449Val) c.16267A>G (p.Ile5423Val) c.13651A>G (p.Ile4551Val) c.16369A>G (p.Ile5457Val) c.16366A>G (p.Ile5456Val) c.16288A>G (p.Ile5430Val) c.16273A>G (p.Ile5425Val) c.16189A>G (p.Ile5397Val) c.9487A>G (p.Ile3163Val) c.9466A>G (p.Ile3156Val) n.16364A>G | |
5 | g.90823576A>T | CA360425747 | ADGRV1 | c.16348A>T (p.Ile5450Phe) c.5302A>T (p.Ile1768Phe) n.3615A>T c.265+147367A>T (n.265+147367A>T) n.128+1394A>T c.2758A>T (p.Ile920Phe) c.3331A>T (p.Ile1111Phe) n.16361A>T c.16345A>T (p.Ile5449Phe) c.16267A>T (p.Ile5423Phe) c.13651A>T (p.Ile4551Phe) c.16369A>T (p.Ile5457Phe) c.16366A>T (p.Ile5456Phe) c.16288A>T (p.Ile5430Phe) c.16273A>T (p.Ile5425Phe) c.16189A>T (p.Ile5397Phe) c.9487A>T (p.Ile3163Phe) c.9466A>T (p.Ile3156Phe) n.16364A>T | |
5 | g.90823577T>A | CA360425748 | ADGRV1 | c.16349T>A (p.Ile5450Asn) c.5303T>A (p.Ile1768Asn) n.3616T>A c.265+147368T>A (n.265+147368T>A) n.128+1395T>A c.2759T>A (p.Ile920Asn) c.3332T>A (p.Ile1111Asn) n.16362T>A c.16346T>A (p.Ile5449Asn) c.16268T>A (p.Ile5423Asn) c.13652T>A (p.Ile4551Asn) c.16370T>A (p.Ile5457Asn) c.16367T>A (p.Ile5456Asn) c.16289T>A (p.Ile5430Asn) c.16274T>A (p.Ile5425Asn) c.16190T>A (p.Ile5397Asn) c.9488T>A (p.Ile3163Asn) c.9467T>A (p.Ile3156Asn) n.16365T>A | |
5 | g.90823577T>C | CA360425749 | ADGRV1 | c.16349T>C (p.Ile5450Thr) c.5303T>C (p.Ile1768Thr) n.3616T>C c.265+147368T>C (n.265+147368T>C) n.128+1395T>C c.2759T>C (p.Ile920Thr) c.3332T>C (p.Ile1111Thr) n.16362T>C c.16346T>C (p.Ile5449Thr) c.16268T>C (p.Ile5423Thr) c.13652T>C (p.Ile4551Thr) c.16370T>C (p.Ile5457Thr) c.16367T>C (p.Ile5456Thr) c.16289T>C (p.Ile5430Thr) c.16274T>C (p.Ile5425Thr) c.16190T>C (p.Ile5397Thr) c.9488T>C (p.Ile3163Thr) c.9467T>C (p.Ile3156Thr) n.16365T>C | |
5 | g.90823577T>G | CA360425750 | ADGRV1 | c.16349T>G (p.Ile5450Ser) c.5303T>G (p.Ile1768Ser) n.3616T>G c.265+147368T>G (n.265+147368T>G) n.128+1395T>G c.2759T>G (p.Ile920Ser) c.3332T>G (p.Ile1111Ser) n.16362T>G c.16346T>G (p.Ile5449Ser) c.16268T>G (p.Ile5423Ser) c.13652T>G (p.Ile4551Ser) c.16370T>G (p.Ile5457Ser) c.16367T>G (p.Ile5456Ser) c.16289T>G (p.Ile5430Ser) c.16274T>G (p.Ile5425Ser) c.16190T>G (p.Ile5397Ser) c.9488T>G (p.Ile3163Ser) c.9467T>G (p.Ile3156Ser) n.16365T>G | |
5 | g.90823578T>A | CA445436611 | ADGRV1 | c.16350T>A (p.Ile5450=) c.5304T>A (p.Ile1768=) n.3617T>A c.265+147369T>A (n.265+147369T>A) n.128+1396T>A c.2760T>A (p.Ile920=) c.3333T>A (p.Ile1111=) n.16363T>A c.16347T>A (p.Ile5449=) c.16269T>A (p.Ile5423=) c.13653T>A (p.Ile4551=) c.16371T>A (p.Ile5457=) c.16368T>A (p.Ile5456=) c.16290T>A (p.Ile5430=) c.16275T>A (p.Ile5425=) c.16191T>A (p.Ile5397=) c.9489T>A (p.Ile3163=) c.9468T>A (p.Ile3156=) n.16366T>A | |
5 | g.90823578T>C | CA445436612 | ADGRV1 | c.16350T>C (p.Ile5450=) c.5304T>C (p.Ile1768=) n.3617T>C c.265+147369T>C (n.265+147369T>C) n.128+1396T>C c.2760T>C (p.Ile920=) c.3333T>C (p.Ile1111=) n.16363T>C c.16347T>C (p.Ile5449=) c.16269T>C (p.Ile5423=) c.13653T>C (p.Ile4551=) c.16371T>C (p.Ile5457=) c.16368T>C (p.Ile5456=) c.16290T>C (p.Ile5430=) c.16275T>C (p.Ile5425=) c.16191T>C (p.Ile5397=) c.9489T>C (p.Ile3163=) c.9468T>C (p.Ile3156=) n.16366T>C | |
5 | g.90823578T>G | CA360425751 | ADGRV1 | c.16350T>G (p.Ile5450Met) c.5304T>G (p.Ile1768Met) n.3617T>G c.265+147369T>G (n.265+147369T>G) n.128+1396T>G c.2760T>G (p.Ile920Met) c.3333T>G (p.Ile1111Met) n.16363T>G c.16347T>G (p.Ile5449Met) c.16269T>G (p.Ile5423Met) c.13653T>G (p.Ile4551Met) c.16371T>G (p.Ile5457Met) c.16368T>G (p.Ile5456Met) c.16290T>G (p.Ile5430Met) c.16275T>G (p.Ile5425Met) c.16191T>G (p.Ile5397Met) c.9489T>G (p.Ile3163Met) c.9468T>G (p.Ile3156Met) n.16366T>G | |
5 | g.90823579G>A | CA360425752 | ADGRV1 | c.16351G>A (p.Glu5451Lys) c.5305G>A (p.Glu1769Lys) n.3618G>A c.265+147370G>A (n.265+147370G>A) n.128+1397G>A c.2761G>A (p.Glu921Lys) c.3334G>A (p.Glu1112Lys) n.16364G>A c.16348G>A (p.Glu5450Lys) c.16270G>A (p.Glu5424Lys) c.13654G>A (p.Glu4552Lys) c.16372G>A (p.Glu5458Lys) c.16369G>A (p.Glu5457Lys) c.16291G>A (p.Glu5431Lys) c.16276G>A (p.Glu5426Lys) c.16192G>A (p.Glu5398Lys) c.9490G>A (p.Glu3164Lys) c.9469G>A (p.Glu3157Lys) n.16367G>A | dbSNP |
5 | g.90823579G>C | CA360425753 | ADGRV1 | c.16351G>C (p.Glu5451Gln) c.5305G>C (p.Glu1769Gln) n.3618G>C c.265+147370G>C (n.265+147370G>C) n.128+1397G>C c.2761G>C (p.Glu921Gln) c.3334G>C (p.Glu1112Gln) n.16364G>C c.16348G>C (p.Glu5450Gln) c.16270G>C (p.Glu5424Gln) c.13654G>C (p.Glu4552Gln) c.16372G>C (p.Glu5458Gln) c.16369G>C (p.Glu5457Gln) c.16291G>C (p.Glu5431Gln) c.16276G>C (p.Glu5426Gln) c.16192G>C (p.Glu5398Gln) c.9490G>C (p.Glu3164Gln) c.9469G>C (p.Glu3157Gln) n.16367G>C | |
5 | g.90823579G= | CA1562918321 | ADGRV1 | c.16351G= (p.Glu5451=) c.5305G= (p.Glu1769=) n.3618G= c.265+147370G= (n.265+147370G=) n.128+1397G= c.2761G= (p.Glu921=) c.3334G= (p.Glu1112=) n.16364G= c.16348G= (p.Glu5450=) c.16270G= (p.Glu5424=) c.13654G= (p.Glu4552=) c.16372G= (p.Glu5458=) c.16369G= (p.Glu5457=) c.16291G= (p.Glu5431=) c.16276G= (p.Glu5426=) c.16192G= (p.Glu5398=) c.9490G= (p.Glu3164=) c.9469G= (p.Glu3157=) n.16367G= | |
5 | g.90823579G>T | CA360425754 | ADGRV1 | c.16351G>T (p.Glu5451Ter) c.5305G>T (p.Glu1769Ter) n.3618G>T c.265+147370G>T (n.265+147370G>T) n.128+1397G>T c.2761G>T (p.Glu921Ter) c.3334G>T (p.Glu1112Ter) n.16364G>T c.16348G>T (p.Glu5450Ter) c.16270G>T (p.Glu5424Ter) c.13654G>T (p.Glu4552Ter) c.16372G>T (p.Glu5458Ter) c.16369G>T (p.Glu5457Ter) c.16291G>T (p.Glu5431Ter) c.16276G>T (p.Glu5426Ter) c.16192G>T (p.Glu5398Ter) c.9490G>T (p.Glu3164Ter) c.9469G>T (p.Glu3157Ter) n.16367G>T | gnomAD v4 |
5 | g.90823580A>C | CA360425755 | ADGRV1 | c.16352A>C (p.Glu5451Ala) c.5306A>C (p.Glu1769Ala) n.3619A>C c.265+147371A>C (n.265+147371A>C) n.128+1398A>C c.2762A>C (p.Glu921Ala) c.3335A>C (p.Glu1112Ala) n.16365A>C c.16349A>C (p.Glu5450Ala) c.16271A>C (p.Glu5424Ala) c.13655A>C (p.Glu4552Ala) c.16373A>C (p.Glu5458Ala) c.16370A>C (p.Glu5457Ala) c.16292A>C (p.Glu5431Ala) c.16277A>C (p.Glu5426Ala) c.16193A>C (p.Glu5398Ala) c.9491A>C (p.Glu3164Ala) c.9470A>C (p.Glu3157Ala) n.16368A>C | |
5 | g.90823580A>G | CA360425756 | ADGRV1 | c.16352A>G (p.Glu5451Gly) c.5306A>G (p.Glu1769Gly) n.3619A>G c.265+147371A>G (n.265+147371A>G) n.128+1398A>G c.2762A>G (p.Glu921Gly) c.3335A>G (p.Glu1112Gly) n.16365A>G c.16349A>G (p.Glu5450Gly) c.16271A>G (p.Glu5424Gly) c.13655A>G (p.Glu4552Gly) c.16373A>G (p.Glu5458Gly) c.16370A>G (p.Glu5457Gly) c.16292A>G (p.Glu5431Gly) c.16277A>G (p.Glu5426Gly) c.16193A>G (p.Glu5398Gly) c.9491A>G (p.Glu3164Gly) c.9470A>G (p.Glu3157Gly) n.16368A>G | |
5 | g.90823580A>T | CA360425757 | ADGRV1 | c.16352A>T (p.Glu5451Val) c.5306A>T (p.Glu1769Val) n.3619A>T c.265+147371A>T (n.265+147371A>T) n.128+1398A>T c.2762A>T (p.Glu921Val) c.3335A>T (p.Glu1112Val) n.16365A>T c.16349A>T (p.Glu5450Val) c.16271A>T (p.Glu5424Val) c.13655A>T (p.Glu4552Val) c.16373A>T (p.Glu5458Val) c.16370A>T (p.Glu5457Val) c.16292A>T (p.Glu5431Val) c.16277A>T (p.Glu5426Val) c.16193A>T (p.Glu5398Val) c.9491A>T (p.Glu3164Val) c.9470A>T (p.Glu3157Val) n.16368A>T | gnomAD v4 |
5 | g.90823581A= | CA1562918322 | ADGRV1 | c.16353A= (p.Glu5451=) c.5307A= (p.Glu1769=) n.3620A= c.265+147372A= (n.265+147372A=) n.128+1399A= c.2763A= (p.Glu921=) c.3336A= (p.Glu1112=) n.16366A= c.16350A= (p.Glu5450=) c.16272A= (p.Glu5424=) c.13656A= (p.Glu4552=) c.16374A= (p.Glu5458=) c.16371A= (p.Glu5457=) c.16293A= (p.Glu5431=) c.16278A= (p.Glu5426=) c.16194A= (p.Glu5398=) c.9492A= (p.Glu3164=) c.9471A= (p.Glu3157=) n.16369A= | |
5 | g.90823581A>C | CA360425759 | ADGRV1 | c.16353A>C (p.Glu5451Asp) c.5307A>C (p.Glu1769Asp) n.3620A>C c.265+147372A>C (n.265+147372A>C) n.128+1399A>C c.2763A>C (p.Glu921Asp) c.3336A>C (p.Glu1112Asp) n.16366A>C c.16350A>C (p.Glu5450Asp) c.16272A>C (p.Glu5424Asp) c.13656A>C (p.Glu4552Asp) c.16374A>C (p.Glu5458Asp) c.16371A>C (p.Glu5457Asp) c.16293A>C (p.Glu5431Asp) c.16278A>C (p.Glu5426Asp) c.16194A>C (p.Glu5398Asp) c.9492A>C (p.Glu3164Asp) c.9471A>C (p.Glu3157Asp) n.16369A>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90823581A>G | CA445436613 | ADGRV1 | c.16353A>G (p.Glu5451=) c.5307A>G (p.Glu1769=) n.3620A>G c.265+147372A>G (n.265+147372A>G) n.128+1399A>G c.2763A>G (p.Glu921=) c.3336A>G (p.Glu1112=) n.16366A>G c.16350A>G (p.Glu5450=) c.16272A>G (p.Glu5424=) c.13656A>G (p.Glu4552=) c.16374A>G (p.Glu5458=) c.16371A>G (p.Glu5457=) c.16293A>G (p.Glu5431=) c.16278A>G (p.Glu5426=) c.16194A>G (p.Glu5398=) c.9492A>G (p.Glu3164=) c.9471A>G (p.Glu3157=) n.16369A>G | |
5 | g.90823581A>T | CA360425758 | ADGRV1 | c.16353A>T (p.Glu5451Asp) c.5307A>T (p.Glu1769Asp) n.3620A>T c.265+147372A>T (n.265+147372A>T) n.128+1399A>T c.2763A>T (p.Glu921Asp) c.3336A>T (p.Glu1112Asp) n.16366A>T c.16350A>T (p.Glu5450Asp) c.16272A>T (p.Glu5424Asp) c.13656A>T (p.Glu4552Asp) c.16374A>T (p.Glu5458Asp) c.16371A>T (p.Glu5457Asp) c.16293A>T (p.Glu5431Asp) c.16278A>T (p.Glu5426Asp) c.16194A>T (p.Glu5398Asp) c.9492A>T (p.Glu3164Asp) c.9471A>T (p.Glu3157Asp) n.16369A>T | |
5 | g.90823582del | CA2674577104 | ADGRV1 | c.16354del (p.Leu5452SerfsTer26) c.5308del (p.Leu1770SerfsTer26) n.3621del c.265+147373del (n.265+147373del) n.128+1400del c.2764del (p.Leu922SerfsTer?) c.3337del (p.Leu1113SerfsTer26) n.16367del c.16351del (p.Leu5451SerfsTer26) c.16273del (p.Leu5425SerfsTer26) c.13657del (p.Leu4553SerfsTer26) c.16375del (p.Leu5459SerfsTer26) c.16372del (p.Leu5458SerfsTer26) c.16294del (p.Leu5432SerfsTer26) c.16279del (p.Leu5427SerfsTer26) c.16195del (p.Leu5399SerfsTer26) c.9493del (p.Leu3165SerfsTer26) c.9472del (p.Leu3158SerfsTer26) n.16370del | ClinVar gnomAD v4 |
5 | g.90823582C>A | CA360425760 | ADGRV1 | c.16354C>A (p.Leu5452Ile) c.5308C>A (p.Leu1770Ile) n.3621C>A c.265+147373C>A (n.265+147373C>A) n.128+1400C>A c.2764C>A (p.Leu922Ile) c.3337C>A (p.Leu1113Ile) n.16367C>A c.16351C>A (p.Leu5451Ile) c.16273C>A (p.Leu5425Ile) c.13657C>A (p.Leu4553Ile) c.16375C>A (p.Leu5459Ile) c.16372C>A (p.Leu5458Ile) c.16294C>A (p.Leu5432Ile) c.16279C>A (p.Leu5427Ile) c.16195C>A (p.Leu5399Ile) c.9493C>A (p.Leu3165Ile) c.9472C>A (p.Leu3158Ile) n.16370C>A | |
5 | g.90823582C>G | CA360425761 | ADGRV1 | c.16354C>G (p.Leu5452Val) c.5308C>G (p.Leu1770Val) n.3621C>G c.265+147373C>G (n.265+147373C>G) n.128+1400C>G c.2764C>G (p.Leu922Val) c.3337C>G (p.Leu1113Val) n.16367C>G c.16351C>G (p.Leu5451Val) c.16273C>G (p.Leu5425Val) c.13657C>G (p.Leu4553Val) c.16375C>G (p.Leu5459Val) c.16372C>G (p.Leu5458Val) c.16294C>G (p.Leu5432Val) c.16279C>G (p.Leu5427Val) c.16195C>G (p.Leu5399Val) c.9493C>G (p.Leu3165Val) c.9472C>G (p.Leu3158Val) n.16370C>G | |
5 | g.90823582C>T | CA360425762 | ADGRV1 | c.16354C>T (p.Leu5452Phe) c.5308C>T (p.Leu1770Phe) n.3621C>T c.265+147373C>T (n.265+147373C>T) n.128+1400C>T c.2764C>T (p.Leu922Phe) c.3337C>T (p.Leu1113Phe) n.16367C>T c.16351C>T (p.Leu5451Phe) c.16273C>T (p.Leu5425Phe) c.13657C>T (p.Leu4553Phe) c.16375C>T (p.Leu5459Phe) c.16372C>T (p.Leu5458Phe) c.16294C>T (p.Leu5432Phe) c.16279C>T (p.Leu5427Phe) c.16195C>T (p.Leu5399Phe) c.9493C>T (p.Leu3165Phe) c.9472C>T (p.Leu3158Phe) n.16370C>T | |
5 | g.90823583T>A | CA360425763 | ADGRV1 | c.16355T>A (p.Leu5452His) c.5309T>A (p.Leu1770His) n.3622T>A c.265+147374T>A (n.265+147374T>A) n.128+1401T>A c.2765T>A (p.Leu922His) c.3338T>A (p.Leu1113His) n.16368T>A c.16352T>A (p.Leu5451His) c.16274T>A (p.Leu5425His) c.13658T>A (p.Leu4553His) c.16376T>A (p.Leu5459His) c.16373T>A (p.Leu5458His) c.16295T>A (p.Leu5432His) c.16280T>A (p.Leu5427His) c.16196T>A (p.Leu5399His) c.9494T>A (p.Leu3165His) c.9473T>A (p.Leu3158His) n.16371T>A | |
5 | g.90823583T>C | CA360425764 | ADGRV1 | c.16355T>C (p.Leu5452Pro) c.5309T>C (p.Leu1770Pro) n.3622T>C c.265+147374T>C (n.265+147374T>C) n.128+1401T>C c.2765T>C (p.Leu922Pro) c.3338T>C (p.Leu1113Pro) n.16368T>C c.16352T>C (p.Leu5451Pro) c.16274T>C (p.Leu5425Pro) c.13658T>C (p.Leu4553Pro) c.16376T>C (p.Leu5459Pro) c.16373T>C (p.Leu5458Pro) c.16295T>C (p.Leu5432Pro) c.16280T>C (p.Leu5427Pro) c.16196T>C (p.Leu5399Pro) c.9494T>C (p.Leu3165Pro) c.9473T>C (p.Leu3158Pro) n.16371T>C | |
5 | g.90823583T>G | CA360425765 | ADGRV1 | c.16355T>G (p.Leu5452Arg) c.5309T>G (p.Leu1770Arg) n.3622T>G c.265+147374T>G (n.265+147374T>G) n.128+1401T>G c.2765T>G (p.Leu922Arg) c.3338T>G (p.Leu1113Arg) n.16368T>G c.16352T>G (p.Leu5451Arg) c.16274T>G (p.Leu5425Arg) c.13658T>G (p.Leu4553Arg) c.16376T>G (p.Leu5459Arg) c.16373T>G (p.Leu5458Arg) c.16295T>G (p.Leu5432Arg) c.16280T>G (p.Leu5427Arg) c.16196T>G (p.Leu5399Arg) c.9494T>G (p.Leu3165Arg) c.9473T>G (p.Leu3158Arg) n.16371T>G | |
5 | g.90823584C>A | CA445436614 | ADGRV1 | c.16356C>A (p.Leu5452=) c.5310C>A (p.Leu1770=) n.3623C>A c.265+147375C>A (n.265+147375C>A) n.128+1402C>A c.2766C>A (p.Leu922=) c.3339C>A (p.Leu1113=) n.16369C>A c.16353C>A (p.Leu5451=) c.16275C>A (p.Leu5425=) c.13659C>A (p.Leu4553=) c.16377C>A (p.Leu5459=) c.16374C>A (p.Leu5458=) c.16296C>A (p.Leu5432=) c.16281C>A (p.Leu5427=) c.16197C>A (p.Leu5399=) c.9495C>A (p.Leu3165=) c.9474C>A (p.Leu3158=) n.16372C>A | gnomAD v4 |
5 | g.90823584C>G | CA445436615 | ADGRV1 | c.16356C>G (p.Leu5452=) c.5310C>G (p.Leu1770=) n.3623C>G c.265+147375C>G (n.265+147375C>G) n.128+1402C>G c.2766C>G (p.Leu922=) c.3339C>G (p.Leu1113=) n.16369C>G c.16353C>G (p.Leu5451=) c.16275C>G (p.Leu5425=) c.13659C>G (p.Leu4553=) c.16377C>G (p.Leu5459=) c.16374C>G (p.Leu5458=) c.16296C>G (p.Leu5432=) c.16281C>G (p.Leu5427=) c.16197C>G (p.Leu5399=) c.9495C>G (p.Leu3165=) c.9474C>G (p.Leu3158=) n.16372C>G | gnomAD v4 COSMIC |
5 | g.90823584C>T | CA445436616 | ADGRV1 | c.16356C>T (p.Leu5452=) c.5310C>T (p.Leu1770=) n.3623C>T c.265+147375C>T (n.265+147375C>T) n.128+1402C>T c.2766C>T (p.Leu922=) c.3339C>T (p.Leu1113=) n.16369C>T c.16353C>T (p.Leu5451=) c.16275C>T (p.Leu5425=) c.13659C>T (p.Leu4553=) c.16377C>T (p.Leu5459=) c.16374C>T (p.Leu5458=) c.16296C>T (p.Leu5432=) c.16281C>T (p.Leu5427=) c.16197C>T (p.Leu5399=) c.9495C>T (p.Leu3165=) c.9474C>T (p.Leu3158=) n.16372C>T | |
5 | g.90823585A>C | CA360425768 | ADGRV1 | c.16357A>C (p.Lys5453Gln) c.5311A>C (p.Lys1771Gln) n.3624A>C c.265+147376A>C (n.265+147376A>C) n.128+1403A>C c.2767A>C (p.Lys923Gln) c.3340A>C (p.Lys1114Gln) n.16370A>C c.16354A>C (p.Lys5452Gln) c.16276A>C (p.Lys5426Gln) c.13660A>C (p.Lys4554Gln) c.16378A>C (p.Lys5460Gln) c.16375A>C (p.Lys5459Gln) c.16297A>C (p.Lys5433Gln) c.16282A>C (p.Lys5428Gln) c.16198A>C (p.Lys5400Gln) c.9496A>C (p.Lys3166Gln) c.9475A>C (p.Lys3159Gln) n.16373A>C | gnomAD v4 |
5 | g.90823585A>G | CA360425767 | ADGRV1 | c.16357A>G (p.Lys5453Glu) c.5311A>G (p.Lys1771Glu) n.3624A>G c.265+147376A>G (n.265+147376A>G) n.128+1403A>G c.2767A>G (p.Lys923Glu) c.3340A>G (p.Lys1114Glu) n.16370A>G c.16354A>G (p.Lys5452Glu) c.16276A>G (p.Lys5426Glu) c.13660A>G (p.Lys4554Glu) c.16378A>G (p.Lys5460Glu) c.16375A>G (p.Lys5459Glu) c.16297A>G (p.Lys5433Glu) c.16282A>G (p.Lys5428Glu) c.16198A>G (p.Lys5400Glu) c.9496A>G (p.Lys3166Glu) c.9475A>G (p.Lys3159Glu) n.16373A>G | |
5 | g.90823585A>T | CA360425766 | ADGRV1 | c.16357A>T (p.Lys5453Ter) c.5311A>T (p.Lys1771Ter) n.3624A>T c.265+147376A>T (n.265+147376A>T) n.128+1403A>T c.2767A>T (p.Lys923Ter) c.3340A>T (p.Lys1114Ter) n.16370A>T c.16354A>T (p.Lys5452Ter) c.16276A>T (p.Lys5426Ter) c.13660A>T (p.Lys4554Ter) c.16378A>T (p.Lys5460Ter) c.16375A>T (p.Lys5459Ter) c.16297A>T (p.Lys5433Ter) c.16282A>T (p.Lys5428Ter) c.16198A>T (p.Lys5400Ter) c.9496A>T (p.Lys3166Ter) c.9475A>T (p.Lys3159Ter) n.16373A>T | |
5 | g.90823586A= | CA1562918323 | ADGRV1 | c.16358A= (p.Lys5453=) c.5312A= (p.Lys1771=) n.3625A= c.265+147377A= (n.265+147377A=) n.128+1404A= c.2768A= (p.Lys923=) c.3341A= (p.Lys1114=) n.16371A= c.16355A= (p.Lys5452=) c.16277A= (p.Lys5426=) c.13661A= (p.Lys4554=) c.16379A= (p.Lys5460=) c.16376A= (p.Lys5459=) c.16298A= (p.Lys5433=) c.16283A= (p.Lys5428=) c.16199A= (p.Lys5400=) c.9497A= (p.Lys3166=) c.9476A= (p.Lys3159=) n.16374A= | |
5 | g.90823586A>C | CA3342120 | ADGRV1 | c.16358A>C (p.Lys5453Thr) c.5312A>C (p.Lys1771Thr) n.3625A>C c.265+147377A>C (n.265+147377A>C) n.128+1404A>C c.2768A>C (p.Lys923Thr) c.3341A>C (p.Lys1114Thr) n.16371A>C c.16355A>C (p.Lys5452Thr) c.16277A>C (p.Lys5426Thr) c.13661A>C (p.Lys4554Thr) c.16379A>C (p.Lys5460Thr) c.16376A>C (p.Lys5459Thr) c.16298A>C (p.Lys5433Thr) c.16283A>C (p.Lys5428Thr) c.16199A>C (p.Lys5400Thr) c.9497A>C (p.Lys3166Thr) c.9476A>C (p.Lys3159Thr) n.16374A>C | dbSNP ExAC gnomAD v2 |
5 | g.90823586A>G | CA360425769 | ADGRV1 | c.16358A>G (p.Lys5453Arg) c.5312A>G (p.Lys1771Arg) n.3625A>G c.265+147377A>G (n.265+147377A>G) n.128+1404A>G c.2768A>G (p.Lys923Arg) c.3341A>G (p.Lys1114Arg) n.16371A>G c.16355A>G (p.Lys5452Arg) c.16277A>G (p.Lys5426Arg) c.13661A>G (p.Lys4554Arg) c.16379A>G (p.Lys5460Arg) c.16376A>G (p.Lys5459Arg) c.16298A>G (p.Lys5433Arg) c.16283A>G (p.Lys5428Arg) c.16199A>G (p.Lys5400Arg) c.9497A>G (p.Lys3166Arg) c.9476A>G (p.Lys3159Arg) n.16374A>G | gnomAD v4 |
5 | g.90823586A>T | CA360425770 | ADGRV1 | c.16358A>T (p.Lys5453Ile) c.5312A>T (p.Lys1771Ile) n.3625A>T c.265+147377A>T (n.265+147377A>T) n.128+1404A>T c.2768A>T (p.Lys923Ile) c.3341A>T (p.Lys1114Ile) n.16371A>T c.16355A>T (p.Lys5452Ile) c.16277A>T (p.Lys5426Ile) c.13661A>T (p.Lys4554Ile) c.16379A>T (p.Lys5460Ile) c.16376A>T (p.Lys5459Ile) c.16298A>T (p.Lys5433Ile) c.16283A>T (p.Lys5428Ile) c.16199A>T (p.Lys5400Ile) c.9497A>T (p.Lys3166Ile) c.9476A>T (p.Lys3159Ile) n.16374A>T | |
5 | g.90823587A= | CA1562918324 | ADGRV1 | c.16359A= (p.Lys5453=) c.5313A= (p.Lys1771=) n.3626A= c.265+147378A= (n.265+147378A=) n.128+1405A= c.2769A= (p.Lys923=) c.3342A= (p.Lys1114=) n.16372A= c.16356A= (p.Lys5452=) c.16278A= (p.Lys5426=) c.13662A= (p.Lys4554=) c.16380A= (p.Lys5460=) c.16377A= (p.Lys5459=) c.16299A= (p.Lys5433=) c.16284A= (p.Lys5428=) c.16200A= (p.Lys5400=) c.9498A= (p.Lys3166=) c.9477A= (p.Lys3159=) n.16375A= | |
5 | g.90823587A>C | CA360425771 | ADGRV1 | c.16359A>C (p.Lys5453Asn) c.5313A>C (p.Lys1771Asn) n.3626A>C c.265+147378A>C (n.265+147378A>C) n.128+1405A>C c.2769A>C (p.Lys923Asn) c.3342A>C (p.Lys1114Asn) n.16372A>C c.16356A>C (p.Lys5452Asn) c.16278A>C (p.Lys5426Asn) c.13662A>C (p.Lys4554Asn) c.16380A>C (p.Lys5460Asn) c.16377A>C (p.Lys5459Asn) c.16299A>C (p.Lys5433Asn) c.16284A>C (p.Lys5428Asn) c.16200A>C (p.Lys5400Asn) c.9498A>C (p.Lys3166Asn) c.9477A>C (p.Lys3159Asn) n.16375A>C | |
5 | g.90823587A>G | CA3342121 | ADGRV1 | c.16359A>G (p.Lys5453=) c.5313A>G (p.Lys1771=) n.3626A>G c.265+147378A>G (n.265+147378A>G) n.128+1405A>G c.2769A>G (p.Lys923=) c.3342A>G (p.Lys1114=) n.16372A>G c.16356A>G (p.Lys5452=) c.16278A>G (p.Lys5426=) c.13662A>G (p.Lys4554=) c.16380A>G (p.Lys5460=) c.16377A>G (p.Lys5459=) c.16299A>G (p.Lys5433=) c.16284A>G (p.Lys5428=) c.16200A>G (p.Lys5400=) c.9498A>G (p.Lys3166=) c.9477A>G (p.Lys3159=) n.16375A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90823587A>T | CA360425772 | ADGRV1 | c.16359A>T (p.Lys5453Asn) c.5313A>T (p.Lys1771Asn) n.3626A>T c.265+147378A>T (n.265+147378A>T) n.128+1405A>T c.2769A>T (p.Lys923Asn) c.3342A>T (p.Lys1114Asn) n.16372A>T c.16356A>T (p.Lys5452Asn) c.16278A>T (p.Lys5426Asn) c.13662A>T (p.Lys4554Asn) c.16380A>T (p.Lys5460Asn) c.16377A>T (p.Lys5459Asn) c.16299A>T (p.Lys5433Asn) c.16284A>T (p.Lys5428Asn) c.16200A>T (p.Lys5400Asn) c.9498A>T (p.Lys3166Asn) c.9477A>T (p.Lys3159Asn) n.16375A>T | |
5 | g.90823588C>A | CA360425773 | ADGRV1 | c.16360C>A (p.Pro5454Thr) c.5314C>A (p.Pro1772Thr) n.3627C>A c.265+147379C>A (n.265+147379C>A) n.128+1406C>A c.2770C>A (p.Pro924Thr) c.3343C>A (p.Pro1115Thr) n.16373C>A c.16357C>A (p.Pro5453Thr) c.16279C>A (p.Pro5427Thr) c.13663C>A (p.Pro4555Thr) c.16381C>A (p.Pro5461Thr) c.16378C>A (p.Pro5460Thr) c.16300C>A (p.Pro5434Thr) c.16285C>A (p.Pro5429Thr) c.16201C>A (p.Pro5401Thr) c.9499C>A (p.Pro3167Thr) c.9478C>A (p.Pro3160Thr) n.16376C>A | |
5 | g.90823588C= | CA1562918325 | ADGRV1 | c.16360C= (p.Pro5454=) c.5314C= (p.Pro1772=) n.3627C= c.265+147379C= (n.265+147379C=) n.128+1406C= c.2770C= (p.Pro924=) c.3343C= (p.Pro1115=) n.16373C= c.16357C= (p.Pro5453=) c.16279C= (p.Pro5427=) c.13663C= (p.Pro4555=) c.16381C= (p.Pro5461=) c.16378C= (p.Pro5460=) c.16300C= (p.Pro5434=) c.16285C= (p.Pro5429=) c.16201C= (p.Pro5401=) c.9499C= (p.Pro3167=) c.9478C= (p.Pro3160=) n.16376C= | |
5 | g.90823588C>G | CA360425774 | ADGRV1 | c.16360C>G (p.Pro5454Ala) c.5314C>G (p.Pro1772Ala) n.3627C>G c.265+147379C>G (n.265+147379C>G) n.128+1406C>G c.2770C>G (p.Pro924Ala) c.3343C>G (p.Pro1115Ala) n.16373C>G c.16357C>G (p.Pro5453Ala) c.16279C>G (p.Pro5427Ala) c.13663C>G (p.Pro4555Ala) c.16381C>G (p.Pro5461Ala) c.16378C>G (p.Pro5460Ala) c.16300C>G (p.Pro5434Ala) c.16285C>G (p.Pro5429Ala) c.16201C>G (p.Pro5401Ala) c.9499C>G (p.Pro3167Ala) c.9478C>G (p.Pro3160Ala) n.16376C>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90823588C>T | CA3342122 | ADGRV1 | c.16360C>T (p.Pro5454Ser) c.5314C>T (p.Pro1772Ser) n.3627C>T c.265+147379C>T (n.265+147379C>T) n.128+1406C>T c.2770C>T (p.Pro924Ser) c.3343C>T (p.Pro1115Ser) n.16373C>T c.16357C>T (p.Pro5453Ser) c.16279C>T (p.Pro5427Ser) c.13663C>T (p.Pro4555Ser) c.16381C>T (p.Pro5461Ser) c.16378C>T (p.Pro5460Ser) c.16300C>T (p.Pro5434Ser) c.16285C>T (p.Pro5429Ser) c.16201C>T (p.Pro5401Ser) c.9499C>T (p.Pro3167Ser) c.9478C>T (p.Pro3160Ser) n.16376C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823589C>A | CA360425775 | ADGRV1 | c.16361C>A (p.Pro5454Gln) c.5315C>A (p.Pro1772Gln) n.3628C>A c.265+147380C>A (n.265+147380C>A) n.128+1407C>A c.2771C>A (p.Pro924Gln) c.3344C>A (p.Pro1115Gln) n.16374C>A c.16358C>A (p.Pro5453Gln) c.16280C>A (p.Pro5427Gln) c.13664C>A (p.Pro4555Gln) c.16382C>A (p.Pro5461Gln) c.16379C>A (p.Pro5460Gln) c.16301C>A (p.Pro5434Gln) c.16286C>A (p.Pro5429Gln) c.16202C>A (p.Pro5401Gln) c.9500C>A (p.Pro3167Gln) c.9479C>A (p.Pro3160Gln) n.16377C>A | |
5 | g.90823589C>G | CA360425776 | ADGRV1 | c.16361C>G (p.Pro5454Arg) c.5315C>G (p.Pro1772Arg) n.3628C>G c.265+147380C>G (n.265+147380C>G) n.128+1407C>G c.2771C>G (p.Pro924Arg) c.3344C>G (p.Pro1115Arg) n.16374C>G c.16358C>G (p.Pro5453Arg) c.16280C>G (p.Pro5427Arg) c.13664C>G (p.Pro4555Arg) c.16382C>G (p.Pro5461Arg) c.16379C>G (p.Pro5460Arg) c.16301C>G (p.Pro5434Arg) c.16286C>G (p.Pro5429Arg) c.16202C>G (p.Pro5401Arg) c.9500C>G (p.Pro3167Arg) c.9479C>G (p.Pro3160Arg) n.16377C>G | |
5 | g.90823589C>T | CA360425777 | ADGRV1 | c.16361C>T (p.Pro5454Leu) c.5315C>T (p.Pro1772Leu) n.3628C>T c.265+147380C>T (n.265+147380C>T) n.128+1407C>T c.2771C>T (p.Pro924Leu) c.3344C>T (p.Pro1115Leu) n.16374C>T c.16358C>T (p.Pro5453Leu) c.16280C>T (p.Pro5427Leu) c.13664C>T (p.Pro4555Leu) c.16382C>T (p.Pro5461Leu) c.16379C>T (p.Pro5460Leu) c.16301C>T (p.Pro5434Leu) c.16286C>T (p.Pro5429Leu) c.16202C>T (p.Pro5401Leu) c.9500C>T (p.Pro3167Leu) c.9479C>T (p.Pro3160Leu) n.16377C>T | gnomAD v4 |
5 | g.90823590A= | CA1562918326 | ADGRV1 | c.16362A= (p.Pro5454=) c.5316A= (p.Pro1772=) n.3629A= c.265+147381A= (n.265+147381A=) n.128+1408A= c.2772A= (p.Pro924=) c.3345A= (p.Pro1115=) n.16375A= c.16359A= (p.Pro5453=) c.16281A= (p.Pro5427=) c.13665A= (p.Pro4555=) c.16383A= (p.Pro5461=) c.16380A= (p.Pro5460=) c.16302A= (p.Pro5434=) c.16287A= (p.Pro5429=) c.16203A= (p.Pro5401=) c.9501A= (p.Pro3167=) c.9480A= (p.Pro3160=) n.16378A= | |
5 | g.90823590A>C | CA445436617 | ADGRV1 | c.16362A>C (p.Pro5454=) c.5316A>C (p.Pro1772=) n.3629A>C c.265+147381A>C (n.265+147381A>C) n.128+1408A>C c.2772A>C (p.Pro924=) c.3345A>C (p.Pro1115=) n.16375A>C c.16359A>C (p.Pro5453=) c.16281A>C (p.Pro5427=) c.13665A>C (p.Pro4555=) c.16383A>C (p.Pro5461=) c.16380A>C (p.Pro5460=) c.16302A>C (p.Pro5434=) c.16287A>C (p.Pro5429=) c.16203A>C (p.Pro5401=) c.9501A>C (p.Pro3167=) c.9480A>C (p.Pro3160=) n.16378A>C | |
5 | g.90823590A>G | CA3342123 | ADGRV1 | c.16362A>G (p.Pro5454=) c.5316A>G (p.Pro1772=) n.3629A>G c.265+147381A>G (n.265+147381A>G) n.128+1408A>G c.2772A>G (p.Pro924=) c.3345A>G (p.Pro1115=) n.16375A>G c.16359A>G (p.Pro5453=) c.16281A>G (p.Pro5427=) c.13665A>G (p.Pro4555=) c.16383A>G (p.Pro5461=) c.16380A>G (p.Pro5460=) c.16302A>G (p.Pro5434=) c.16287A>G (p.Pro5429=) c.16203A>G (p.Pro5401=) c.9501A>G (p.Pro3167=) c.9480A>G (p.Pro3160=) n.16378A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823590A>T | CA445436618 | ADGRV1 | c.16362A>T (p.Pro5454=) c.5316A>T (p.Pro1772=) n.3629A>T c.265+147381A>T (n.265+147381A>T) n.128+1408A>T c.2772A>T (p.Pro924=) c.3345A>T (p.Pro1115=) n.16375A>T c.16359A>T (p.Pro5453=) c.16281A>T (p.Pro5427=) c.13665A>T (p.Pro4555=) c.16383A>T (p.Pro5461=) c.16380A>T (p.Pro5460=) c.16302A>T (p.Pro5434=) c.16287A>T (p.Pro5429=) c.16203A>T (p.Pro5401=) c.9501A>T (p.Pro3167=) c.9480A>T (p.Pro3160=) n.16378A>T | |
5 | g.90823591G>A | CA360425778 | ADGRV1 | c.16363G>A (p.Glu5455Lys) c.5317G>A (p.Glu1773Lys) n.3630G>A c.265+147382G>A (n.265+147382G>A) n.128+1409G>A c.2773G>A (p.Glu925Lys) c.3346G>A (p.Glu1116Lys) n.16376G>A c.16360G>A (p.Glu5454Lys) c.16282G>A (p.Glu5428Lys) c.13666G>A (p.Glu4556Lys) c.16384G>A (p.Glu5462Lys) c.16381G>A (p.Glu5461Lys) c.16303G>A (p.Glu5435Lys) c.16288G>A (p.Glu5430Lys) c.16204G>A (p.Glu5402Lys) c.9502G>A (p.Glu3168Lys) c.9481G>A (p.Glu3161Lys) n.16379G>A | ClinVar dbSNP |
5 | g.90823591G>C | CA360425779 | ADGRV1 | c.16363G>C (p.Glu5455Gln) c.5317G>C (p.Glu1773Gln) n.3630G>C c.265+147382G>C (n.265+147382G>C) n.128+1409G>C c.2773G>C (p.Glu925Gln) c.3346G>C (p.Glu1116Gln) n.16376G>C c.16360G>C (p.Glu5454Gln) c.16282G>C (p.Glu5428Gln) c.13666G>C (p.Glu4556Gln) c.16384G>C (p.Glu5462Gln) c.16381G>C (p.Glu5461Gln) c.16303G>C (p.Glu5435Gln) c.16288G>C (p.Glu5430Gln) c.16204G>C (p.Glu5402Gln) c.9502G>C (p.Glu3168Gln) c.9481G>C (p.Glu3161Gln) n.16379G>C | |
5 | g.90823591G>T | CA360425780 | ADGRV1 | c.16363G>T (p.Glu5455Ter) c.5317G>T (p.Glu1773Ter) n.3630G>T c.265+147382G>T (n.265+147382G>T) n.128+1409G>T c.2773G>T (p.Glu925Ter) c.3346G>T (p.Glu1116Ter) n.16376G>T c.16360G>T (p.Glu5454Ter) c.16282G>T (p.Glu5428Ter) c.13666G>T (p.Glu4556Ter) c.16384G>T (p.Glu5462Ter) c.16381G>T (p.Glu5461Ter) c.16303G>T (p.Glu5435Ter) c.16288G>T (p.Glu5430Ter) c.16204G>T (p.Glu5402Ter) c.9502G>T (p.Glu3168Ter) c.9481G>T (p.Glu3161Ter) n.16379G>T | |
5 | g.90823592A>C | CA360425781 | ADGRV1 | c.16364A>C (p.Glu5455Ala) c.5318A>C (p.Glu1773Ala) n.3631A>C c.265+147383A>C (n.265+147383A>C) n.128+1410A>C c.2774A>C (p.Glu925Ala) c.3347A>C (p.Glu1116Ala) n.16377A>C c.16361A>C (p.Glu5454Ala) c.16283A>C (p.Glu5428Ala) c.13667A>C (p.Glu4556Ala) c.16385A>C (p.Glu5462Ala) c.16382A>C (p.Glu5461Ala) c.16304A>C (p.Glu5435Ala) c.16289A>C (p.Glu5430Ala) c.16205A>C (p.Glu5402Ala) c.9503A>C (p.Glu3168Ala) c.9482A>C (p.Glu3161Ala) n.16380A>C | |
5 | g.90823592A>G | CA360425782 | ADGRV1 | c.16364A>G (p.Glu5455Gly) c.5318A>G (p.Glu1773Gly) n.3631A>G c.265+147383A>G (n.265+147383A>G) n.128+1410A>G c.2774A>G (p.Glu925Gly) c.3347A>G (p.Glu1116Gly) n.16377A>G c.16361A>G (p.Glu5454Gly) c.16283A>G (p.Glu5428Gly) c.13667A>G (p.Glu4556Gly) c.16385A>G (p.Glu5462Gly) c.16382A>G (p.Glu5461Gly) c.16304A>G (p.Glu5435Gly) c.16289A>G (p.Glu5430Gly) c.16205A>G (p.Glu5402Gly) c.9503A>G (p.Glu3168Gly) c.9482A>G (p.Glu3161Gly) n.16380A>G | |
5 | g.90823592A>T | CA360425783 | ADGRV1 | c.16364A>T (p.Glu5455Val) c.5318A>T (p.Glu1773Val) n.3631A>T c.265+147383A>T (n.265+147383A>T) n.128+1410A>T c.2774A>T (p.Glu925Val) c.3347A>T (p.Glu1116Val) n.16377A>T c.16361A>T (p.Glu5454Val) c.16283A>T (p.Glu5428Val) c.13667A>T (p.Glu4556Val) c.16385A>T (p.Glu5462Val) c.16382A>T (p.Glu5461Val) c.16304A>T (p.Glu5435Val) c.16289A>T (p.Glu5430Val) c.16205A>T (p.Glu5402Val) c.9503A>T (p.Glu3168Val) c.9482A>T (p.Glu3161Val) n.16380A>T | |
5 | g.90823593A>C | CA360425784 | ADGRV1 | c.16365A>C (p.Glu5455Asp) c.5319A>C (p.Glu1773Asp) n.3632A>C c.265+147384A>C (n.265+147384A>C) n.128+1411A>C c.2775A>C (p.Glu925Asp) c.3348A>C (p.Glu1116Asp) n.16378A>C c.16362A>C (p.Glu5454Asp) c.16284A>C (p.Glu5428Asp) c.13668A>C (p.Glu4556Asp) c.16386A>C (p.Glu5462Asp) c.16383A>C (p.Glu5461Asp) c.16305A>C (p.Glu5435Asp) c.16290A>C (p.Glu5430Asp) c.16206A>C (p.Glu5402Asp) c.9504A>C (p.Glu3168Asp) c.9483A>C (p.Glu3161Asp) n.16381A>C | |
5 | g.90823593A>G | CA445436619 | ADGRV1 | c.16365A>G (p.Glu5455=) c.5319A>G (p.Glu1773=) n.3632A>G c.265+147384A>G (n.265+147384A>G) n.128+1411A>G c.2775A>G (p.Glu925=) c.3348A>G (p.Glu1116=) n.16378A>G c.16362A>G (p.Glu5454=) c.16284A>G (p.Glu5428=) c.13668A>G (p.Glu4556=) c.16386A>G (p.Glu5462=) c.16383A>G (p.Glu5461=) c.16305A>G (p.Glu5435=) c.16290A>G (p.Glu5430=) c.16206A>G (p.Glu5402=) c.9504A>G (p.Glu3168=) c.9483A>G (p.Glu3161=) n.16381A>G | |
5 | g.90823593A>T | CA360425785 | ADGRV1 | c.16365A>T (p.Glu5455Asp) c.5319A>T (p.Glu1773Asp) n.3632A>T c.265+147384A>T (n.265+147384A>T) n.128+1411A>T c.2775A>T (p.Glu925Asp) c.3348A>T (p.Glu1116Asp) n.16378A>T c.16362A>T (p.Glu5454Asp) c.16284A>T (p.Glu5428Asp) c.13668A>T (p.Glu4556Asp) c.16386A>T (p.Glu5462Asp) c.16383A>T (p.Glu5461Asp) c.16305A>T (p.Glu5435Asp) c.16290A>T (p.Glu5430Asp) c.16206A>T (p.Glu5402Asp) c.9504A>T (p.Glu3168Asp) c.9483A>T (p.Glu3161Asp) n.16381A>T | |
5 | g.90823594A= | CA1562918327 | ADGRV1 | c.16366A= (p.Lys5456=) c.5320A= (p.Lys1774=) n.3633A= c.265+147385A= (n.265+147385A=) n.128+1412A= c.2776A= (p.Lys926=) c.3349A= (p.Lys1117=) n.16379A= c.16363A= (p.Lys5455=) c.16285A= (p.Lys5429=) c.13669A= (p.Lys4557=) c.16387A= (p.Lys5463=) c.16384A= (p.Lys5462=) c.16306A= (p.Lys5436=) c.16291A= (p.Lys5431=) c.16207A= (p.Lys5403=) c.9505A= (p.Lys3169=) c.9484A= (p.Lys3162=) n.16382A= | |
5 | g.90823594A>C | CA360425786 | ADGRV1 | c.16366A>C (p.Lys5456Gln) c.5320A>C (p.Lys1774Gln) n.3633A>C c.265+147385A>C (n.265+147385A>C) n.128+1412A>C c.2776A>C (p.Lys926Gln) c.3349A>C (p.Lys1117Gln) n.16379A>C c.16363A>C (p.Lys5455Gln) c.16285A>C (p.Lys5429Gln) c.13669A>C (p.Lys4557Gln) c.16387A>C (p.Lys5463Gln) c.16384A>C (p.Lys5462Gln) c.16306A>C (p.Lys5436Gln) c.16291A>C (p.Lys5431Gln) c.16207A>C (p.Lys5403Gln) c.9505A>C (p.Lys3169Gln) c.9484A>C (p.Lys3162Gln) n.16382A>C | |
5 | g.90823594A>G | CA360425788 | ADGRV1 | c.16366A>G (p.Lys5456Glu) c.5320A>G (p.Lys1774Glu) n.3633A>G c.265+147385A>G (n.265+147385A>G) n.128+1412A>G c.2776A>G (p.Lys926Glu) c.3349A>G (p.Lys1117Glu) n.16379A>G c.16363A>G (p.Lys5455Glu) c.16285A>G (p.Lys5429Glu) c.13669A>G (p.Lys4557Glu) c.16387A>G (p.Lys5463Glu) c.16384A>G (p.Lys5462Glu) c.16306A>G (p.Lys5436Glu) c.16291A>G (p.Lys5431Glu) c.16207A>G (p.Lys5403Glu) c.9505A>G (p.Lys3169Glu) c.9484A>G (p.Lys3162Glu) n.16382A>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90823594A>T | CA360425787 | ADGRV1 | c.16366A>T (p.Lys5456Ter) c.5320A>T (p.Lys1774Ter) n.3633A>T c.265+147385A>T (n.265+147385A>T) n.128+1412A>T c.2776A>T (p.Lys926Ter) c.3349A>T (p.Lys1117Ter) n.16379A>T c.16363A>T (p.Lys5455Ter) c.16285A>T (p.Lys5429Ter) c.13669A>T (p.Lys4557Ter) c.16387A>T (p.Lys5463Ter) c.16384A>T (p.Lys5462Ter) c.16306A>T (p.Lys5436Ter) c.16291A>T (p.Lys5431Ter) c.16207A>T (p.Lys5403Ter) c.9505A>T (p.Lys3169Ter) c.9484A>T (p.Lys3162Ter) n.16382A>T | |
5 | g.90823595A>C | CA360425789 | ADGRV1 | c.16367A>C (p.Lys5456Thr) c.5321A>C (p.Lys1774Thr) n.3634A>C c.265+147386A>C (n.265+147386A>C) n.128+1413A>C c.2777A>C (p.Lys926Thr) c.3350A>C (p.Lys1117Thr) n.16380A>C c.16364A>C (p.Lys5455Thr) c.16286A>C (p.Lys5429Thr) c.13670A>C (p.Lys4557Thr) c.16388A>C (p.Lys5463Thr) c.16385A>C (p.Lys5462Thr) c.16307A>C (p.Lys5436Thr) c.16292A>C (p.Lys5431Thr) c.16208A>C (p.Lys5403Thr) c.9506A>C (p.Lys3169Thr) c.9485A>C (p.Lys3162Thr) n.16383A>C | |
5 | g.90823595A>G | CA360425790 | ADGRV1 | c.16367A>G (p.Lys5456Arg) c.5321A>G (p.Lys1774Arg) n.3634A>G c.265+147386A>G (n.265+147386A>G) n.128+1413A>G c.2777A>G (p.Lys926Arg) c.3350A>G (p.Lys1117Arg) n.16380A>G c.16364A>G (p.Lys5455Arg) c.16286A>G (p.Lys5429Arg) c.13670A>G (p.Lys4557Arg) c.16388A>G (p.Lys5463Arg) c.16385A>G (p.Lys5462Arg) c.16307A>G (p.Lys5436Arg) c.16292A>G (p.Lys5431Arg) c.16208A>G (p.Lys5403Arg) c.9506A>G (p.Lys3169Arg) c.9485A>G (p.Lys3162Arg) n.16383A>G | |
5 | g.90823595A>T | CA360425791 | ADGRV1 | c.16367A>T (p.Lys5456Met) c.5321A>T (p.Lys1774Met) n.3634A>T c.265+147386A>T (n.265+147386A>T) n.128+1413A>T c.2777A>T (p.Lys926Met) c.3350A>T (p.Lys1117Met) n.16380A>T c.16364A>T (p.Lys5455Met) c.16286A>T (p.Lys5429Met) c.13670A>T (p.Lys4557Met) c.16388A>T (p.Lys5463Met) c.16385A>T (p.Lys5462Met) c.16307A>T (p.Lys5436Met) c.16292A>T (p.Lys5431Met) c.16208A>T (p.Lys5403Met) c.9506A>T (p.Lys3169Met) c.9485A>T (p.Lys3162Met) n.16383A>T | |
5 | g.90823596G>A | CA445436620 | ADGRV1 | c.16368G>A (p.Lys5456=) c.5322G>A (p.Lys1774=) n.3635G>A c.265+147387G>A (n.265+147387G>A) n.128+1414G>A c.2778G>A (p.Lys926=) c.3351G>A (p.Lys1117=) n.16381G>A c.16365G>A (p.Lys5455=) c.16287G>A (p.Lys5429=) c.13671G>A (p.Lys4557=) c.16389G>A (p.Lys5463=) c.16386G>A (p.Lys5462=) c.16308G>A (p.Lys5436=) c.16293G>A (p.Lys5431=) c.16209G>A (p.Lys5403=) c.9507G>A (p.Lys3169=) c.9486G>A (p.Lys3162=) n.16384G>A | gnomAD v4 COSMIC |
5 | g.90823596G>C | CA360425792 | ADGRV1 | c.16368G>C (p.Lys5456Asn) c.5322G>C (p.Lys1774Asn) n.3635G>C c.265+147387G>C (n.265+147387G>C) n.128+1414G>C c.2778G>C (p.Lys926Asn) c.3351G>C (p.Lys1117Asn) n.16381G>C c.16365G>C (p.Lys5455Asn) c.16287G>C (p.Lys5429Asn) c.13671G>C (p.Lys4557Asn) c.16389G>C (p.Lys5463Asn) c.16386G>C (p.Lys5462Asn) c.16308G>C (p.Lys5436Asn) c.16293G>C (p.Lys5431Asn) c.16209G>C (p.Lys5403Asn) c.9507G>C (p.Lys3169Asn) c.9486G>C (p.Lys3162Asn) n.16384G>C | ClinVar dbSNP |
5 | g.90823596G>T | CA360425793 | ADGRV1 | c.16368G>T (p.Lys5456Asn) c.5322G>T (p.Lys1774Asn) n.3635G>T c.265+147387G>T (n.265+147387G>T) n.128+1414G>T c.2778G>T (p.Lys926Asn) c.3351G>T (p.Lys1117Asn) n.16381G>T c.16365G>T (p.Lys5455Asn) c.16287G>T (p.Lys5429Asn) c.13671G>T (p.Lys4557Asn) c.16389G>T (p.Lys5463Asn) c.16386G>T (p.Lys5462Asn) c.16308G>T (p.Lys5436Asn) c.16293G>T (p.Lys5431Asn) c.16209G>T (p.Lys5403Asn) c.9507G>T (p.Lys3169Asn) c.9486G>T (p.Lys3162Asn) n.16384G>T | gnomAD v4 |