UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.90823487A= | CA1562918266 | ADGRV1 | c.16259A= (p.Gln5420=) c.5213A= (p.Gln1738=) n.3526A= c.265+147278A= (n.265+147278A=) n.128+1305A= c.2669A= (p.Gln890=) c.3242A= (p.Gln1081=) n.16272A= c.16256A= (p.Gln5419=) c.16178A= (p.Gln5393=) c.13562A= (p.Gln4521=) c.16280A= (p.Gln5427=) c.16277A= (p.Gln5426=) c.16199A= (p.Gln5400=) c.16184A= (p.Gln5395=) c.16100A= (p.Gln5367=) c.9398A= (p.Gln3133=) c.9377A= (p.Gln3126=) n.16275A= | |
| 5 | g.90823487A>C | CA360425561 | ADGRV1 | c.16259A>C (p.Gln5420Pro) c.5213A>C (p.Gln1738Pro) n.3526A>C c.265+147278A>C (n.265+147278A>C) n.128+1305A>C c.2669A>C (p.Gln890Pro) c.3242A>C (p.Gln1081Pro) n.16272A>C c.16256A>C (p.Gln5419Pro) c.16178A>C (p.Gln5393Pro) c.13562A>C (p.Gln4521Pro) c.16280A>C (p.Gln5427Pro) c.16277A>C (p.Gln5426Pro) c.16199A>C (p.Gln5400Pro) c.16184A>C (p.Gln5395Pro) c.16100A>C (p.Gln5367Pro) c.9398A>C (p.Gln3133Pro) c.9377A>C (p.Gln3126Pro) n.16275A>C | |
| 5 | g.90823487A>G | CA360425562 | ADGRV1 | c.16259A>G (p.Gln5420Arg) c.5213A>G (p.Gln1738Arg) n.3526A>G c.265+147278A>G (n.265+147278A>G) n.128+1305A>G c.2669A>G (p.Gln890Arg) c.3242A>G (p.Gln1081Arg) n.16272A>G c.16256A>G (p.Gln5419Arg) c.16178A>G (p.Gln5393Arg) c.13562A>G (p.Gln4521Arg) c.16280A>G (p.Gln5427Arg) c.16277A>G (p.Gln5426Arg) c.16199A>G (p.Gln5400Arg) c.16184A>G (p.Gln5395Arg) c.16100A>G (p.Gln5367Arg) c.9398A>G (p.Gln3133Arg) c.9377A>G (p.Gln3126Arg) n.16275A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.90823487A>T | CA360425560 | ADGRV1 | c.16259A>T (p.Gln5420Leu) c.5213A>T (p.Gln1738Leu) n.3526A>T c.265+147278A>T (n.265+147278A>T) n.128+1305A>T c.2669A>T (p.Gln890Leu) c.3242A>T (p.Gln1081Leu) n.16272A>T c.16256A>T (p.Gln5419Leu) c.16178A>T (p.Gln5393Leu) c.13562A>T (p.Gln4521Leu) c.16280A>T (p.Gln5427Leu) c.16277A>T (p.Gln5426Leu) c.16199A>T (p.Gln5400Leu) c.16184A>T (p.Gln5395Leu) c.16100A>T (p.Gln5367Leu) c.9398A>T (p.Gln3133Leu) c.9377A>T (p.Gln3126Leu) n.16275A>T | |
| 5 | g.90823489_90823491del | CA2674577100 | ADGRV1 | c.16261_16263del (p.Lys5421del) c.5215_5217del (p.Lys1739del) n.3528_3530del c.265+147280_265+147282del (n.265+147280_265+147282del) n.128+1307_128+1309del c.2671_2673del (p.Lys891del) c.3244_3246del (p.Lys1082del) n.16274_16276del c.16258_16260del (p.Lys5420del) c.16180_16182del (p.Lys5394del) c.13564_13566del (p.Lys4522del) c.16282_16284del (p.Lys5428del) c.16279_16281del (p.Lys5427del) c.16201_16203del (p.Lys5401del) c.16186_16188del (p.Lys5396del) c.16102_16104del (p.Lys5368del) c.9400_9402del (p.Lys3134del) c.9379_9381del (p.Lys3127del) n.16277_16279del | gnomAD v4 |
| 5 | g.90823488G>A | CA445436559 | ADGRV1 | c.16260G>A (p.Gln5420=) c.5214G>A (p.Gln1738=) n.3527G>A c.265+147279G>A (n.265+147279G>A) n.128+1306G>A c.2670G>A (p.Gln890=) c.3243G>A (p.Gln1081=) n.16273G>A c.16257G>A (p.Gln5419=) c.16179G>A (p.Gln5393=) c.13563G>A (p.Gln4521=) c.16281G>A (p.Gln5427=) c.16278G>A (p.Gln5426=) c.16200G>A (p.Gln5400=) c.16185G>A (p.Gln5395=) c.16101G>A (p.Gln5367=) c.9399G>A (p.Gln3133=) c.9378G>A (p.Gln3126=) n.16276G>A | dbSNP gnomAD v2 |
| 5 | g.90823488G>C | CA360425563 | ADGRV1 | c.16260G>C (p.Gln5420His) c.5214G>C (p.Gln1738His) n.3527G>C c.265+147279G>C (n.265+147279G>C) n.128+1306G>C c.2670G>C (p.Gln890His) c.3243G>C (p.Gln1081His) n.16273G>C c.16257G>C (p.Gln5419His) c.16179G>C (p.Gln5393His) c.13563G>C (p.Gln4521His) c.16281G>C (p.Gln5427His) c.16278G>C (p.Gln5426His) c.16200G>C (p.Gln5400His) c.16185G>C (p.Gln5395His) c.16101G>C (p.Gln5367His) c.9399G>C (p.Gln3133His) c.9378G>C (p.Gln3126His) n.16276G>C | |
| 5 | g.90823488G= | CA1562918267 | ADGRV1 | c.16260G= (p.Gln5420=) c.5214G= (p.Gln1738=) n.3527G= c.265+147279G= (n.265+147279G=) n.128+1306G= c.2670G= (p.Gln890=) c.3243G= (p.Gln1081=) n.16273G= c.16257G= (p.Gln5419=) c.16179G= (p.Gln5393=) c.13563G= (p.Gln4521=) c.16281G= (p.Gln5427=) c.16278G= (p.Gln5426=) c.16200G= (p.Gln5400=) c.16185G= (p.Gln5395=) c.16101G= (p.Gln5367=) c.9399G= (p.Gln3133=) c.9378G= (p.Gln3126=) n.16276G= | |
| 5 | g.90823488G>T | CA360425564 | ADGRV1 | c.16260G>T (p.Gln5420His) c.5214G>T (p.Gln1738His) n.3527G>T c.265+147279G>T (n.265+147279G>T) n.128+1306G>T c.2670G>T (p.Gln890His) c.3243G>T (p.Gln1081His) n.16273G>T c.16257G>T (p.Gln5419His) c.16179G>T (p.Gln5393His) c.13563G>T (p.Gln4521His) c.16281G>T (p.Gln5427His) c.16278G>T (p.Gln5426His) c.16200G>T (p.Gln5400His) c.16185G>T (p.Gln5395His) c.16101G>T (p.Gln5367His) c.9399G>T (p.Gln3133His) c.9378G>T (p.Gln3126His) n.16276G>T | |
| 5 | g.90823489A>C | CA360425565 | ADGRV1 | c.16261A>C (p.Lys5421Gln) c.5215A>C (p.Lys1739Gln) n.3528A>C c.265+147280A>C (n.265+147280A>C) n.128+1307A>C c.2671A>C (p.Lys891Gln) c.3244A>C (p.Lys1082Gln) n.16274A>C c.16258A>C (p.Lys5420Gln) c.16180A>C (p.Lys5394Gln) c.13564A>C (p.Lys4522Gln) c.16282A>C (p.Lys5428Gln) c.16279A>C (p.Lys5427Gln) c.16201A>C (p.Lys5401Gln) c.16186A>C (p.Lys5396Gln) c.16102A>C (p.Lys5368Gln) c.9400A>C (p.Lys3134Gln) c.9379A>C (p.Lys3127Gln) n.16277A>C | gnomAD v4 |
| 5 | g.90823489A>G | CA360425566 | ADGRV1 | c.16261A>G (p.Lys5421Glu) c.5215A>G (p.Lys1739Glu) n.3528A>G c.265+147280A>G (n.265+147280A>G) n.128+1307A>G c.2671A>G (p.Lys891Glu) c.3244A>G (p.Lys1082Glu) n.16274A>G c.16258A>G (p.Lys5420Glu) c.16180A>G (p.Lys5394Glu) c.13564A>G (p.Lys4522Glu) c.16282A>G (p.Lys5428Glu) c.16279A>G (p.Lys5427Glu) c.16201A>G (p.Lys5401Glu) c.16186A>G (p.Lys5396Glu) c.16102A>G (p.Lys5368Glu) c.9400A>G (p.Lys3134Glu) c.9379A>G (p.Lys3127Glu) n.16277A>G | |
| 5 | g.90823489A>T | CA360425567 | ADGRV1 | c.16261A>T (p.Lys5421Ter) c.5215A>T (p.Lys1739Ter) n.3528A>T c.265+147280A>T (n.265+147280A>T) n.128+1307A>T c.2671A>T (p.Lys891Ter) c.3244A>T (p.Lys1082Ter) n.16274A>T c.16258A>T (p.Lys5420Ter) c.16180A>T (p.Lys5394Ter) c.13564A>T (p.Lys4522Ter) c.16282A>T (p.Lys5428Ter) c.16279A>T (p.Lys5427Ter) c.16201A>T (p.Lys5401Ter) c.16186A>T (p.Lys5396Ter) c.16102A>T (p.Lys5368Ter) c.9400A>T (p.Lys3134Ter) c.9379A>T (p.Lys3127Ter) n.16277A>T | |
| 5 | g.90823490A= | CA1562918268 | ADGRV1 | c.16262A= (p.Lys5421=) c.5216A= (p.Lys1739=) n.3529A= c.265+147281A= (n.265+147281A=) n.128+1308A= c.2672A= (p.Lys891=) c.3245A= (p.Lys1082=) n.16275A= c.16259A= (p.Lys5420=) c.16181A= (p.Lys5394=) c.13565A= (p.Lys4522=) c.16283A= (p.Lys5428=) c.16280A= (p.Lys5427=) c.16202A= (p.Lys5401=) c.16187A= (p.Lys5396=) c.16103A= (p.Lys5368=) c.9401A= (p.Lys3134=) c.9380A= (p.Lys3127=) n.16278A= | |
| 5 | g.90823490A>C | CA360425569 | ADGRV1 | c.16262A>C (p.Lys5421Thr) c.5216A>C (p.Lys1739Thr) n.3529A>C c.265+147281A>C (n.265+147281A>C) n.128+1308A>C c.2672A>C (p.Lys891Thr) c.3245A>C (p.Lys1082Thr) n.16275A>C c.16259A>C (p.Lys5420Thr) c.16181A>C (p.Lys5394Thr) c.13565A>C (p.Lys4522Thr) c.16283A>C (p.Lys5428Thr) c.16280A>C (p.Lys5427Thr) c.16202A>C (p.Lys5401Thr) c.16187A>C (p.Lys5396Thr) c.16103A>C (p.Lys5368Thr) c.9401A>C (p.Lys3134Thr) c.9380A>C (p.Lys3127Thr) n.16278A>C | gnomAD v4 |
| 5 | g.90823490A>G | CA360425568 | ADGRV1 | c.16262A>G (p.Lys5421Arg) c.5216A>G (p.Lys1739Arg) n.3529A>G c.265+147281A>G (n.265+147281A>G) n.128+1308A>G c.2672A>G (p.Lys891Arg) c.3245A>G (p.Lys1082Arg) n.16275A>G c.16259A>G (p.Lys5420Arg) c.16181A>G (p.Lys5394Arg) c.13565A>G (p.Lys4522Arg) c.16283A>G (p.Lys5428Arg) c.16280A>G (p.Lys5427Arg) c.16202A>G (p.Lys5401Arg) c.16187A>G (p.Lys5396Arg) c.16103A>G (p.Lys5368Arg) c.9401A>G (p.Lys3134Arg) c.9380A>G (p.Lys3127Arg) n.16278A>G | |
| 5 | g.90823490A>T | CA3342100 | ADGRV1 | c.16262A>T (p.Lys5421Met) c.5216A>T (p.Lys1739Met) n.3529A>T c.265+147281A>T (n.265+147281A>T) n.128+1308A>T c.2672A>T (p.Lys891Met) c.3245A>T (p.Lys1082Met) n.16275A>T c.16259A>T (p.Lys5420Met) c.16181A>T (p.Lys5394Met) c.13565A>T (p.Lys4522Met) c.16283A>T (p.Lys5428Met) c.16280A>T (p.Lys5427Met) c.16202A>T (p.Lys5401Met) c.16187A>T (p.Lys5396Met) c.16103A>T (p.Lys5368Met) c.9401A>T (p.Lys3134Met) c.9380A>T (p.Lys3127Met) n.16278A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.90823491G>A | CA3342101 | ADGRV1 | c.16263G>A (p.Lys5421=) c.5217G>A (p.Lys1739=) n.3530G>A c.265+147282G>A (n.265+147282G>A) n.128+1309G>A c.2673G>A (p.Lys891=) c.3246G>A (p.Lys1082=) n.16276G>A c.16260G>A (p.Lys5420=) c.16182G>A (p.Lys5394=) c.13566G>A (p.Lys4522=) c.16284G>A (p.Lys5428=) c.16281G>A (p.Lys5427=) c.16203G>A (p.Lys5401=) c.16188G>A (p.Lys5396=) c.16104G>A (p.Lys5368=) c.9402G>A (p.Lys3134=) c.9381G>A (p.Lys3127=) n.16279G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90823491G>C | CA360425570 | ADGRV1 | c.16263G>C (p.Lys5421Asn) c.5217G>C (p.Lys1739Asn) n.3530G>C c.265+147282G>C (n.265+147282G>C) n.128+1309G>C c.2673G>C (p.Lys891Asn) c.3246G>C (p.Lys1082Asn) n.16276G>C c.16260G>C (p.Lys5420Asn) c.16182G>C (p.Lys5394Asn) c.13566G>C (p.Lys4522Asn) c.16284G>C (p.Lys5428Asn) c.16281G>C (p.Lys5427Asn) c.16203G>C (p.Lys5401Asn) c.16188G>C (p.Lys5396Asn) c.16104G>C (p.Lys5368Asn) c.9402G>C (p.Lys3134Asn) c.9381G>C (p.Lys3127Asn) n.16279G>C | |
| 5 | g.90823491G= | CA1562918269 | ADGRV1 | c.16263G= (p.Lys5421=) c.5217G= (p.Lys1739=) n.3530G= c.265+147282G= (n.265+147282G=) n.128+1309G= c.2673G= (p.Lys891=) c.3246G= (p.Lys1082=) n.16276G= c.16260G= (p.Lys5420=) c.16182G= (p.Lys5394=) c.13566G= (p.Lys4522=) c.16284G= (p.Lys5428=) c.16281G= (p.Lys5427=) c.16203G= (p.Lys5401=) c.16188G= (p.Lys5396=) c.16104G= (p.Lys5368=) c.9402G= (p.Lys3134=) c.9381G= (p.Lys3127=) n.16279G= | |
| 5 | g.90823491G>T | CA360425571 | ADGRV1 | c.16263G>T (p.Lys5421Asn) c.5217G>T (p.Lys1739Asn) n.3530G>T c.265+147282G>T (n.265+147282G>T) n.128+1309G>T c.2673G>T (p.Lys891Asn) c.3246G>T (p.Lys1082Asn) n.16276G>T c.16260G>T (p.Lys5420Asn) c.16182G>T (p.Lys5394Asn) c.13566G>T (p.Lys4522Asn) c.16284G>T (p.Lys5428Asn) c.16281G>T (p.Lys5427Asn) c.16203G>T (p.Lys5401Asn) c.16188G>T (p.Lys5396Asn) c.16104G>T (p.Lys5368Asn) c.9402G>T (p.Lys3134Asn) c.9381G>T (p.Lys3127Asn) n.16279G>T | gnomAD v4 |
| 5 | g.90823492G>A | CA360425572 | ADGRV1 | c.16264G>A (p.Asp5422Asn) c.5218G>A (p.Asp1740Asn) n.3531G>A c.265+147283G>A (n.265+147283G>A) n.128+1310G>A c.2674G>A (p.Asp892Asn) c.3247G>A (p.Asp1083Asn) n.16277G>A c.16261G>A (p.Asp5421Asn) c.16183G>A (p.Asp5395Asn) c.13567G>A (p.Asp4523Asn) c.16285G>A (p.Asp5429Asn) c.16282G>A (p.Asp5428Asn) c.16204G>A (p.Asp5402Asn) c.16189G>A (p.Asp5397Asn) c.16105G>A (p.Asp5369Asn) c.9403G>A (p.Asp3135Asn) c.9382G>A (p.Asp3128Asn) n.16280G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.90823492G>C | CA360425573 | ADGRV1 | c.16264G>C (p.Asp5422His) c.5218G>C (p.Asp1740His) n.3531G>C c.265+147283G>C (n.265+147283G>C) n.128+1310G>C c.2674G>C (p.Asp892His) c.3247G>C (p.Asp1083His) n.16277G>C c.16261G>C (p.Asp5421His) c.16183G>C (p.Asp5395His) c.13567G>C (p.Asp4523His) c.16285G>C (p.Asp5429His) c.16282G>C (p.Asp5428His) c.16204G>C (p.Asp5402His) c.16189G>C (p.Asp5397His) c.16105G>C (p.Asp5369His) c.9403G>C (p.Asp3135His) c.9382G>C (p.Asp3128His) n.16280G>C | |
| 5 | g.90823492G= | CA1562918270 | ADGRV1 | c.16264G= (p.Asp5422=) c.5218G= (p.Asp1740=) n.3531G= c.265+147283G= (n.265+147283G=) n.128+1310G= c.2674G= (p.Asp892=) c.3247G= (p.Asp1083=) n.16277G= c.16261G= (p.Asp5421=) c.16183G= (p.Asp5395=) c.13567G= (p.Asp4523=) c.16285G= (p.Asp5429=) c.16282G= (p.Asp5428=) c.16204G= (p.Asp5402=) c.16189G= (p.Asp5397=) c.16105G= (p.Asp5369=) c.9403G= (p.Asp3135=) c.9382G= (p.Asp3128=) n.16280G= | |
| 5 | g.90823492G>T | CA122804093 | ADGRV1 | c.16264G>T (p.Asp5422Tyr) c.5218G>T (p.Asp1740Tyr) n.3531G>T c.265+147283G>T (n.265+147283G>T) n.128+1310G>T c.2674G>T (p.Asp892Tyr) c.3247G>T (p.Asp1083Tyr) n.16277G>T c.16261G>T (p.Asp5421Tyr) c.16183G>T (p.Asp5395Tyr) c.13567G>T (p.Asp4523Tyr) c.16285G>T (p.Asp5429Tyr) c.16282G>T (p.Asp5428Tyr) c.16204G>T (p.Asp5402Tyr) c.16189G>T (p.Asp5397Tyr) c.16105G>T (p.Asp5369Tyr) c.9403G>T (p.Asp3135Tyr) c.9382G>T (p.Asp3128Tyr) n.16280G>T | ClinVar dbSNP |
| 5 | g.90823493A>C | CA360425574 | ADGRV1 | c.16265A>C (p.Asp5422Ala) c.5219A>C (p.Asp1740Ala) n.3532A>C c.265+147284A>C (n.265+147284A>C) n.128+1311A>C c.2675A>C (p.Asp892Ala) c.3248A>C (p.Asp1083Ala) n.16278A>C c.16262A>C (p.Asp5421Ala) c.16184A>C (p.Asp5395Ala) c.13568A>C (p.Asp4523Ala) c.16286A>C (p.Asp5429Ala) c.16283A>C (p.Asp5428Ala) c.16205A>C (p.Asp5402Ala) c.16190A>C (p.Asp5397Ala) c.16106A>C (p.Asp5369Ala) c.9404A>C (p.Asp3135Ala) c.9383A>C (p.Asp3128Ala) n.16281A>C | |
| 5 | g.90823493A>G | CA360425576 | ADGRV1 | c.16265A>G (p.Asp5422Gly) c.5219A>G (p.Asp1740Gly) n.3532A>G c.265+147284A>G (n.265+147284A>G) n.128+1311A>G c.2675A>G (p.Asp892Gly) c.3248A>G (p.Asp1083Gly) n.16278A>G c.16262A>G (p.Asp5421Gly) c.16184A>G (p.Asp5395Gly) c.13568A>G (p.Asp4523Gly) c.16286A>G (p.Asp5429Gly) c.16283A>G (p.Asp5428Gly) c.16205A>G (p.Asp5402Gly) c.16190A>G (p.Asp5397Gly) c.16106A>G (p.Asp5369Gly) c.9404A>G (p.Asp3135Gly) c.9383A>G (p.Asp3128Gly) n.16281A>G | |
| 5 | g.90823493A>T | CA360425575 | ADGRV1 | c.16265A>T (p.Asp5422Val) c.5219A>T (p.Asp1740Val) n.3532A>T c.265+147284A>T (n.265+147284A>T) n.128+1311A>T c.2675A>T (p.Asp892Val) c.3248A>T (p.Asp1083Val) n.16278A>T c.16262A>T (p.Asp5421Val) c.16184A>T (p.Asp5395Val) c.13568A>T (p.Asp4523Val) c.16286A>T (p.Asp5429Val) c.16283A>T (p.Asp5428Val) c.16205A>T (p.Asp5402Val) c.16190A>T (p.Asp5397Val) c.16106A>T (p.Asp5369Val) c.9404A>T (p.Asp3135Val) c.9383A>T (p.Asp3128Val) n.16281A>T | gnomAD v4 |
| 5 | g.90823494T>A | CA360425577 | ADGRV1 | c.16266T>A (p.Asp5422Glu) c.5220T>A (p.Asp1740Glu) n.3533T>A c.265+147285T>A (n.265+147285T>A) n.128+1312T>A c.2676T>A (p.Asp892Glu) c.3249T>A (p.Asp1083Glu) n.16279T>A c.16263T>A (p.Asp5421Glu) c.16185T>A (p.Asp5395Glu) c.13569T>A (p.Asp4523Glu) c.16287T>A (p.Asp5429Glu) c.16284T>A (p.Asp5428Glu) c.16206T>A (p.Asp5402Glu) c.16191T>A (p.Asp5397Glu) c.16107T>A (p.Asp5369Glu) c.9405T>A (p.Asp3135Glu) c.9384T>A (p.Asp3128Glu) n.16282T>A | |
| 5 | g.90823494T>C | CA3342102 | ADGRV1 | c.16266T>C (p.Asp5422=) c.5220T>C (p.Asp1740=) n.3533T>C c.265+147285T>C (n.265+147285T>C) n.128+1312T>C c.2676T>C (p.Asp892=) c.3249T>C (p.Asp1083=) n.16279T>C c.16263T>C (p.Asp5421=) c.16185T>C (p.Asp5395=) c.13569T>C (p.Asp4523=) c.16287T>C (p.Asp5429=) c.16284T>C (p.Asp5428=) c.16206T>C (p.Asp5402=) c.16191T>C (p.Asp5397=) c.16107T>C (p.Asp5369=) c.9405T>C (p.Asp3135=) c.9384T>C (p.Asp3128=) n.16282T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90823494T>G | CA360425578 | ADGRV1 | c.16266T>G (p.Asp5422Glu) c.5220T>G (p.Asp1740Glu) n.3533T>G c.265+147285T>G (n.265+147285T>G) n.128+1312T>G c.2676T>G (p.Asp892Glu) c.3249T>G (p.Asp1083Glu) n.16279T>G c.16263T>G (p.Asp5421Glu) c.16185T>G (p.Asp5395Glu) c.13569T>G (p.Asp4523Glu) c.16287T>G (p.Asp5429Glu) c.16284T>G (p.Asp5428Glu) c.16206T>G (p.Asp5402Glu) c.16191T>G (p.Asp5397Glu) c.16107T>G (p.Asp5369Glu) c.9405T>G (p.Asp3135Glu) c.9384T>G (p.Asp3128Glu) n.16282T>G | |
| 5 | g.90823494T= | CA1562918271 | ADGRV1 | c.16266T= (p.Asp5422=) c.5220T= (p.Asp1740=) n.3533T= c.265+147285T= (n.265+147285T=) n.128+1312T= c.2676T= (p.Asp892=) c.3249T= (p.Asp1083=) n.16279T= c.16263T= (p.Asp5421=) c.16185T= (p.Asp5395=) c.13569T= (p.Asp4523=) c.16287T= (p.Asp5429=) c.16284T= (p.Asp5428=) c.16206T= (p.Asp5402=) c.16191T= (p.Asp5397=) c.16107T= (p.Asp5369=) c.9405T= (p.Asp3135=) c.9384T= (p.Asp3128=) n.16282T= | |
| 5 | g.90823495G>A | CA360425579 | ADGRV1 | c.16267G>A (p.Gly5423Arg) c.5221G>A (p.Gly1741Arg) n.3534G>A c.265+147286G>A (n.265+147286G>A) n.128+1313G>A c.2677G>A (p.Gly893Arg) c.3250G>A (p.Gly1084Arg) n.16280G>A c.16264G>A (p.Gly5422Arg) c.16186G>A (p.Gly5396Arg) c.13570G>A (p.Gly4524Arg) c.16288G>A (p.Gly5430Arg) c.16285G>A (p.Gly5429Arg) c.16207G>A (p.Gly5403Arg) c.16192G>A (p.Gly5398Arg) c.16108G>A (p.Gly5370Arg) c.9406G>A (p.Gly3136Arg) c.9385G>A (p.Gly3129Arg) n.16283G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.90823495G>C | CA360425580 | ADGRV1 | c.16267G>C (p.Gly5423Arg) c.5221G>C (p.Gly1741Arg) n.3534G>C c.265+147286G>C (n.265+147286G>C) n.128+1313G>C c.2677G>C (p.Gly893Arg) c.3250G>C (p.Gly1084Arg) n.16280G>C c.16264G>C (p.Gly5422Arg) c.16186G>C (p.Gly5396Arg) c.13570G>C (p.Gly4524Arg) c.16288G>C (p.Gly5430Arg) c.16285G>C (p.Gly5429Arg) c.16207G>C (p.Gly5403Arg) c.16192G>C (p.Gly5398Arg) c.16108G>C (p.Gly5370Arg) c.9406G>C (p.Gly3136Arg) c.9385G>C (p.Gly3129Arg) n.16283G>C | |
| 5 | g.90823495G= | CA1562918272 | ADGRV1 | c.16267G= (p.Gly5423=) c.5221G= (p.Gly1741=) n.3534G= c.265+147286G= (n.265+147286G=) n.128+1313G= c.2677G= (p.Gly893=) c.3250G= (p.Gly1084=) n.16280G= c.16264G= (p.Gly5422=) c.16186G= (p.Gly5396=) c.13570G= (p.Gly4524=) c.16288G= (p.Gly5430=) c.16285G= (p.Gly5429=) c.16207G= (p.Gly5403=) c.16192G= (p.Gly5398=) c.16108G= (p.Gly5370=) c.9406G= (p.Gly3136=) c.9385G= (p.Gly3129=) n.16283G= | |
| 5 | g.90823495G>T | CA360425581 | ADGRV1 | c.16267G>T (p.Gly5423Trp) c.5221G>T (p.Gly1741Trp) n.3534G>T c.265+147286G>T (n.265+147286G>T) n.128+1313G>T c.2677G>T (p.Gly893Trp) c.3250G>T (p.Gly1084Trp) n.16280G>T c.16264G>T (p.Gly5422Trp) c.16186G>T (p.Gly5396Trp) c.13570G>T (p.Gly4524Trp) c.16288G>T (p.Gly5430Trp) c.16285G>T (p.Gly5429Trp) c.16207G>T (p.Gly5403Trp) c.16192G>T (p.Gly5398Trp) c.16108G>T (p.Gly5370Trp) c.9406G>T (p.Gly3136Trp) c.9385G>T (p.Gly3129Trp) n.16283G>T | gnomAD v4 |
| 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 |