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.90694162G>A | CA261839 | ADGRV1 | c.7406G>A (p.Trp2469Ter) c.265+17953G>A (n.265+17953G>A) n.2865G>A c.1213G>A n.550G>A c.4697G>A (p.Trp1566Ter) c.2135G>A c.103G>A n.7419G>A c.7403G>A (p.Trp2468Ter) c.7325G>A (p.Trp2442Ter) c.4709G>A (p.Trp1570Ter) c.7310G>A (p.Trp2437Ter) c.524G>A (p.Trp175Ter) n.7422G>A | ClinVar dbSNP |
| 5 | g.90694162G>C | CA360377110 | ADGRV1 | c.7406G>C (p.Trp2469Ser) c.265+17953G>C (n.265+17953G>C) n.2865G>C c.1213G>C n.550G>C c.4697G>C (p.Trp1566Ser) c.2135G>C c.103G>C n.7419G>C c.7403G>C (p.Trp2468Ser) c.7325G>C (p.Trp2442Ser) c.4709G>C (p.Trp1570Ser) c.7310G>C (p.Trp2437Ser) c.524G>C (p.Trp175Ser) n.7422G>C | |
| 5 | g.90694162G= | CA1562859883 | ADGRV1 | c.7406G= (p.Trp2469=) c.265+17953G= (n.265+17953G=) n.2865G= c.1213G= n.550G= c.4697G= (p.Trp1566=) c.2135G= c.103G= n.7419G= c.7403G= (p.Trp2468=) c.7325G= (p.Trp2442=) c.4709G= (p.Trp1570=) c.7310G= (p.Trp2437=) c.524G= (p.Trp175=) n.7422G= | |
| 5 | g.90694162G>T | CA360377112 | ADGRV1 | c.7406G>T (p.Trp2469Leu) c.265+17953G>T (n.265+17953G>T) n.2865G>T c.1213G>T n.550G>T c.4697G>T (p.Trp1566Leu) c.2135G>T c.103G>T n.7419G>T c.7403G>T (p.Trp2468Leu) c.7325G>T (p.Trp2442Leu) c.4709G>T (p.Trp1570Leu) c.7310G>T (p.Trp2437Leu) c.524G>T (p.Trp175Leu) n.7422G>T | |
| 5 | g.90694163G>A | CA360377119 | ADGRV1 | c.7407G>A (p.Trp2469Ter) c.265+17954G>A (n.265+17954G>A) n.2866G>A c.1214G>A n.551G>A c.4698G>A (p.Trp1566Ter) c.2136G>A c.104G>A n.7420G>A c.7404G>A (p.Trp2468Ter) c.7326G>A (p.Trp2442Ter) c.4710G>A (p.Trp1570Ter) c.7311G>A (p.Trp2437Ter) c.525G>A (p.Trp175Ter) n.7423G>A | COSMIC |
| 5 | g.90694163G>C | CA360377120 | ADGRV1 | c.7407G>C (p.Trp2469Cys) c.265+17954G>C (n.265+17954G>C) n.2866G>C c.1214G>C n.551G>C c.4698G>C (p.Trp1566Cys) c.2136G>C c.104G>C n.7420G>C c.7404G>C (p.Trp2468Cys) c.7326G>C (p.Trp2442Cys) c.4710G>C (p.Trp1570Cys) c.7311G>C (p.Trp2437Cys) c.525G>C (p.Trp175Cys) n.7423G>C | |
| 5 | g.90694163G>T | CA360377122 | ADGRV1 | c.7407G>T (p.Trp2469Cys) c.265+17954G>T (n.265+17954G>T) n.2866G>T c.1214G>T n.551G>T c.4698G>T (p.Trp1566Cys) c.2136G>T c.104G>T n.7420G>T c.7404G>T (p.Trp2468Cys) c.7326G>T (p.Trp2442Cys) c.4710G>T (p.Trp1570Cys) c.7311G>T (p.Trp2437Cys) c.525G>T (p.Trp175Cys) n.7423G>T | |
| 5 | g.90694164A>C | CA360377127 | ADGRV1 | c.7408A>C (p.Ile2470Leu) c.265+17955A>C (n.265+17955A>C) n.2867A>C c.1215A>C n.552A>C c.4699A>C (p.Ile1567Leu) c.2137A>C c.105A>C n.7421A>C c.7405A>C (p.Ile2469Leu) c.7327A>C (p.Ile2443Leu) c.4711A>C (p.Ile1571Leu) c.7312A>C (p.Ile2438Leu) c.526A>C (p.Ile176Leu) n.7424A>C | |
| 5 | g.90694164A>G | CA360377132 | ADGRV1 | c.7408A>G (p.Ile2470Val) c.265+17955A>G (n.265+17955A>G) n.2867A>G c.1215A>G n.552A>G c.4699A>G (p.Ile1567Val) c.2137A>G c.105A>G n.7421A>G c.7405A>G (p.Ile2469Val) c.7327A>G (p.Ile2443Val) c.4711A>G (p.Ile1571Val) c.7312A>G (p.Ile2438Val) c.526A>G (p.Ile176Val) n.7424A>G | |
| 5 | g.90694164A>T | CA360377150 | ADGRV1 | c.7408A>T (p.Ile2470Phe) c.265+17955A>T (n.265+17955A>T) n.2867A>T c.1215A>T n.552A>T c.4699A>T (p.Ile1567Phe) c.2137A>T c.105A>T n.7421A>T c.7405A>T (p.Ile2469Phe) c.7327A>T (p.Ile2443Phe) c.4711A>T (p.Ile1571Phe) c.7312A>T (p.Ile2438Phe) c.526A>T (p.Ile176Phe) n.7424A>T | |
| 5 | g.90694165T>A | CA360377156 | ADGRV1 | c.7409T>A (p.Ile2470Asn) c.265+17956T>A (n.265+17956T>A) n.2868T>A c.1216T>A n.553T>A c.4700T>A (p.Ile1567Asn) c.2138T>A c.106T>A n.7422T>A c.7406T>A (p.Ile2469Asn) c.7328T>A (p.Ile2443Asn) c.4712T>A (p.Ile1571Asn) c.7313T>A (p.Ile2438Asn) c.527T>A (p.Ile176Asn) n.7425T>A | |
| 5 | g.90694165T>C | CA360377160 | ADGRV1 | c.7409T>C (p.Ile2470Thr) c.265+17956T>C (n.265+17956T>C) n.2868T>C c.1216T>C n.553T>C c.4700T>C (p.Ile1567Thr) c.2138T>C c.106T>C n.7422T>C c.7406T>C (p.Ile2469Thr) c.7328T>C (p.Ile2443Thr) c.4712T>C (p.Ile1571Thr) c.7313T>C (p.Ile2438Thr) c.527T>C (p.Ile176Thr) n.7425T>C | |
| 5 | g.90694165T>G | CA360377166 | ADGRV1 | c.7409T>G (p.Ile2470Ser) c.265+17956T>G (n.265+17956T>G) n.2868T>G c.1216T>G n.553T>G c.4700T>G (p.Ile1567Ser) c.2138T>G c.106T>G n.7422T>G c.7406T>G (p.Ile2469Ser) c.7328T>G (p.Ile2443Ser) c.4712T>G (p.Ile1571Ser) c.7313T>G (p.Ile2438Ser) c.527T>G (p.Ile176Ser) n.7425T>G | |
| 5 | g.90694166C>A | CA445468282 | ADGRV1 | c.7410C>A (p.Ile2470=) c.265+17957C>A (n.265+17957C>A) n.2869C>A c.1217C>A n.554C>A c.4701C>A (p.Ile1567=) c.2139C>A c.107C>A n.7423C>A c.7407C>A (p.Ile2469=) c.7329C>A (p.Ile2443=) c.4713C>A (p.Ile1571=) c.7314C>A (p.Ile2438=) c.528C>A (p.Ile176=) n.7426C>A | |
| 5 | g.90694166C>G | CA360377170 | ADGRV1 | c.7410C>G (p.Ile2470Met) c.265+17957C>G (n.265+17957C>G) n.2869C>G c.1217C>G n.554C>G c.4701C>G (p.Ile1567Met) c.2139C>G c.107C>G n.7423C>G c.7407C>G (p.Ile2469Met) c.7329C>G (p.Ile2443Met) c.4713C>G (p.Ile1571Met) c.7314C>G (p.Ile2438Met) c.528C>G (p.Ile176Met) n.7426C>G | |
| 5 | g.90694166C>T | CA445468285 | ADGRV1 | c.7410C>T (p.Ile2470=) c.265+17957C>T (n.265+17957C>T) n.2869C>T c.1217C>T n.554C>T c.4701C>T (p.Ile1567=) c.2139C>T c.107C>T n.7423C>T c.7407C>T (p.Ile2469=) c.7329C>T (p.Ile2443=) c.4713C>T (p.Ile1571=) c.7314C>T (p.Ile2438=) c.528C>T (p.Ile176=) n.7426C>T | |
| 5 | g.90694167A>C | CA360377190 | ADGRV1 | c.7411A>C (p.Ser2471Arg) c.265+17958A>C (n.265+17958A>C) n.2870A>C c.1218A>C n.555A>C c.4702A>C (p.Ser1568Arg) c.2140A>C c.108A>C n.7424A>C c.7408A>C (p.Ser2470Arg) c.7330A>C (p.Ser2444Arg) c.4714A>C (p.Ser1572Arg) c.7315A>C (p.Ser2439Arg) c.529A>C (p.Ser177Arg) n.7427A>C | |
| 5 | g.90694167A>G | CA360377179 | ADGRV1 | c.7411A>G (p.Ser2471Gly) c.265+17958A>G (n.265+17958A>G) n.2870A>G c.1218A>G n.555A>G c.4702A>G (p.Ser1568Gly) c.2140A>G c.108A>G n.7424A>G c.7408A>G (p.Ser2470Gly) c.7330A>G (p.Ser2444Gly) c.4714A>G (p.Ser1572Gly) c.7315A>G (p.Ser2439Gly) c.529A>G (p.Ser177Gly) n.7427A>G | |
| 5 | g.90694167A>T | CA360377183 | ADGRV1 | c.7411A>T (p.Ser2471Cys) c.265+17958A>T (n.265+17958A>T) n.2870A>T c.1218A>T n.555A>T c.4702A>T (p.Ser1568Cys) c.2140A>T c.108A>T n.7424A>T c.7408A>T (p.Ser2470Cys) c.7330A>T (p.Ser2444Cys) c.4714A>T (p.Ser1572Cys) c.7315A>T (p.Ser2439Cys) c.529A>T (p.Ser177Cys) n.7427A>T | |
| 5 | g.90694168G>A | CA360377195 | ADGRV1 | c.7412G>A (p.Ser2471Asn) c.265+17959G>A (n.265+17959G>A) n.2871G>A c.1219G>A n.556G>A c.4703G>A (p.Ser1568Asn) c.2141G>A c.109G>A n.7425G>A c.7409G>A (p.Ser2470Asn) c.7331G>A (p.Ser2444Asn) c.4715G>A (p.Ser1572Asn) c.7316G>A (p.Ser2439Asn) c.530G>A (p.Ser177Asn) n.7428G>A | |
| 5 | g.90694168G>C | CA360377196 | ADGRV1 | c.7412G>C (p.Ser2471Thr) c.265+17959G>C (n.265+17959G>C) n.2871G>C c.1219G>C n.556G>C c.4703G>C (p.Ser1568Thr) c.2141G>C c.109G>C n.7425G>C c.7409G>C (p.Ser2470Thr) c.7331G>C (p.Ser2444Thr) c.4715G>C (p.Ser1572Thr) c.7316G>C (p.Ser2439Thr) c.530G>C (p.Ser177Thr) n.7428G>C | |
| 5 | g.90694168G>T | CA360377197 | ADGRV1 | c.7412G>T (p.Ser2471Ile) c.265+17959G>T (n.265+17959G>T) n.2871G>T c.1219G>T n.556G>T c.4703G>T (p.Ser1568Ile) c.2141G>T c.109G>T n.7425G>T c.7409G>T (p.Ser2470Ile) c.7331G>T (p.Ser2444Ile) c.4715G>T (p.Ser1572Ile) c.7316G>T (p.Ser2439Ile) c.530G>T (p.Ser177Ile) n.7428G>T | |
| 5 | g.90694169C>A | CA360377200 | ADGRV1 | c.7413C>A (p.Ser2471Arg) c.265+17960C>A (n.265+17960C>A) n.2872C>A c.1220C>A n.557C>A c.4704C>A (p.Ser1568Arg) c.2142C>A c.110C>A n.7426C>A c.7410C>A (p.Ser2470Arg) c.7332C>A (p.Ser2444Arg) c.4716C>A (p.Ser1572Arg) c.7317C>A (p.Ser2439Arg) c.531C>A (p.Ser177Arg) n.7429C>A | ClinVar dbSNP gnomAD v4 |
| 5 | g.90694169C= | CA1562859884 | ADGRV1 | c.7413C= (p.Ser2471=) c.265+17960C= (n.265+17960C=) n.2872C= c.1220C= n.557C= c.4704C= (p.Ser1568=) c.2142C= c.110C= n.7426C= c.7410C= (p.Ser2470=) c.7332C= (p.Ser2444=) c.4716C= (p.Ser1572=) c.7317C= (p.Ser2439=) c.531C= (p.Ser177=) n.7429C= | |
| 5 | g.90694169C>G | CA360377204 | ADGRV1 | c.7413C>G (p.Ser2471Arg) c.265+17960C>G (n.265+17960C>G) n.2872C>G c.1220C>G n.557C>G c.4704C>G (p.Ser1568Arg) c.2142C>G c.110C>G n.7426C>G c.7410C>G (p.Ser2470Arg) c.7332C>G (p.Ser2444Arg) c.4716C>G (p.Ser1572Arg) c.7317C>G (p.Ser2439Arg) c.531C>G (p.Ser177Arg) n.7429C>G | |
| 5 | g.90694169C>T | CA3340026 | ADGRV1 | c.7413C>T (p.Ser2471=) c.265+17960C>T (n.265+17960C>T) n.2872C>T c.1220C>T n.557C>T c.4704C>T (p.Ser1568=) c.2142C>T c.110C>T n.7426C>T c.7410C>T (p.Ser2470=) c.7332C>T (p.Ser2444=) c.4716C>T (p.Ser1572=) c.7317C>T (p.Ser2439=) c.531C>T (p.Ser177=) n.7429C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90694170C>A | CA360377215 | ADGRV1 | c.7414C>A (p.Pro2472Thr) c.265+17961C>A (n.265+17961C>A) n.2873C>A c.1221C>A n.558C>A c.4705C>A (p.Pro1569Thr) c.2143C>A c.111C>A n.7427C>A c.7411C>A (p.Pro2471Thr) c.7333C>A (p.Pro2445Thr) c.4717C>A (p.Pro1573Thr) c.7318C>A (p.Pro2440Thr) c.532C>A (p.Pro178Thr) n.7430C>A | gnomAD v4 |
| 5 | g.90694170C>G | CA360377218 | ADGRV1 | c.7414C>G (p.Pro2472Ala) c.265+17961C>G (n.265+17961C>G) n.2873C>G c.1221C>G n.558C>G c.4705C>G (p.Pro1569Ala) c.2143C>G c.111C>G n.7427C>G c.7411C>G (p.Pro2471Ala) c.7333C>G (p.Pro2445Ala) c.4717C>G (p.Pro1573Ala) c.7318C>G (p.Pro2440Ala) c.532C>G (p.Pro178Ala) n.7430C>G | |
| 5 | g.90694170C>T | CA360377232 | ADGRV1 | c.7414C>T (p.Pro2472Ser) c.265+17961C>T (n.265+17961C>T) n.2873C>T c.1221C>T n.558C>T c.4705C>T (p.Pro1569Ser) c.2143C>T c.111C>T n.7427C>T c.7411C>T (p.Pro2471Ser) c.7333C>T (p.Pro2445Ser) c.4717C>T (p.Pro1573Ser) c.7318C>T (p.Pro2440Ser) c.532C>T (p.Pro178Ser) n.7430C>T | gnomAD v4 COSMIC |
| 5 | g.90694171C>A | CA360377236 | ADGRV1 | c.7415C>A (p.Pro2472Gln) c.265+17962C>A (n.265+17962C>A) n.2874C>A c.1222C>A n.559C>A c.4706C>A (p.Pro1569Gln) c.2144C>A c.112C>A n.7428C>A c.7412C>A (p.Pro2471Gln) c.7334C>A (p.Pro2445Gln) c.4718C>A (p.Pro1573Gln) c.7319C>A (p.Pro2440Gln) c.533C>A (p.Pro178Gln) n.7431C>A | dbSNP |
| 5 | g.90694171C= | CA1562859885 | ADGRV1 | c.7415C= (p.Pro2472=) c.265+17962C= (n.265+17962C=) n.2874C= c.1222C= n.559C= c.4706C= (p.Pro1569=) c.2144C= c.112C= n.7428C= c.7412C= (p.Pro2471=) c.7334C= (p.Pro2445=) c.4718C= (p.Pro1573=) c.7319C= (p.Pro2440=) c.533C= (p.Pro178=) n.7431C= | |
| 5 | g.90694171C>G | CA360377240 | ADGRV1 | c.7415C>G (p.Pro2472Arg) c.265+17962C>G (n.265+17962C>G) n.2874C>G c.1222C>G n.559C>G c.4706C>G (p.Pro1569Arg) c.2144C>G c.112C>G n.7428C>G c.7412C>G (p.Pro2471Arg) c.7334C>G (p.Pro2445Arg) c.4718C>G (p.Pro1573Arg) c.7319C>G (p.Pro2440Arg) c.533C>G (p.Pro178Arg) n.7431C>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.90694171C>T | CA360377244 | ADGRV1 | c.7415C>T (p.Pro2472Leu) c.265+17962C>T (n.265+17962C>T) n.2874C>T c.1222C>T n.559C>T c.4706C>T (p.Pro1569Leu) c.2144C>T c.112C>T n.7428C>T c.7412C>T (p.Pro2471Leu) c.7334C>T (p.Pro2445Leu) c.4718C>T (p.Pro1573Leu) c.7319C>T (p.Pro2440Leu) c.533C>T (p.Pro178Leu) n.7431C>T | |
| 5 | g.90694172A>C | CA445468290 | ADGRV1 | c.7416A>C (p.Pro2472=) c.265+17963A>C (n.265+17963A>C) n.2875A>C c.1223A>C n.560A>C c.4707A>C (p.Pro1569=) c.2145A>C c.113A>C n.7429A>C c.7413A>C (p.Pro2471=) c.7335A>C (p.Pro2445=) c.4719A>C (p.Pro1573=) c.7320A>C (p.Pro2440=) c.534A>C (p.Pro178=) n.7432A>C | |
| 5 | g.90694172A>G | CA445468292 | ADGRV1 | c.7416A>G (p.Pro2472=) c.265+17963A>G (n.265+17963A>G) n.2875A>G c.1223A>G n.560A>G c.4707A>G (p.Pro1569=) c.2145A>G c.113A>G n.7429A>G c.7413A>G (p.Pro2471=) c.7335A>G (p.Pro2445=) c.4719A>G (p.Pro1573=) c.7320A>G (p.Pro2440=) c.534A>G (p.Pro178=) n.7432A>G | |
| 5 | g.90694172A>T | CA445468293 | ADGRV1 | c.7416A>T (p.Pro2472=) c.265+17963A>T (n.265+17963A>T) n.2875A>T c.1223A>T n.560A>T c.4707A>T (p.Pro1569=) c.2145A>T c.113A>T n.7429A>T c.7413A>T (p.Pro2471=) c.7335A>T (p.Pro2445=) c.4719A>T (p.Pro1573=) c.7320A>T (p.Pro2440=) c.534A>T (p.Pro178=) n.7432A>T | |
| 5 | g.90694173G>A | CA360377259 | ADGRV1 | c.7417G>A (p.Ala2473Thr) c.265+17964G>A (n.265+17964G>A) n.2876G>A c.1224G>A n.561G>A c.4708G>A (p.Ala1570Thr) c.2146G>A c.114G>A n.7430G>A c.7414G>A (p.Ala2472Thr) c.7336G>A (p.Ala2446Thr) c.4720G>A (p.Ala1574Thr) c.7321G>A (p.Ala2441Thr) c.535G>A (p.Ala179Thr) n.7433G>A | |
| 5 | g.90694173G>C | CA360377256 | ADGRV1 | c.7417G>C (p.Ala2473Pro) c.265+17964G>C (n.265+17964G>C) n.2876G>C c.1224G>C n.561G>C c.4708G>C (p.Ala1570Pro) c.2146G>C c.114G>C n.7430G>C c.7414G>C (p.Ala2472Pro) c.7336G>C (p.Ala2446Pro) c.4720G>C (p.Ala1574Pro) c.7321G>C (p.Ala2441Pro) c.535G>C (p.Ala179Pro) n.7433G>C | |
| 5 | g.90694173G>T | CA360377251 | ADGRV1 | c.7417G>T (p.Ala2473Ser) c.265+17964G>T (n.265+17964G>T) n.2876G>T c.1224G>T n.561G>T c.4708G>T (p.Ala1570Ser) c.2146G>T c.114G>T n.7430G>T c.7414G>T (p.Ala2472Ser) c.7336G>T (p.Ala2446Ser) c.4720G>T (p.Ala1574Ser) c.7321G>T (p.Ala2441Ser) c.535G>T (p.Ala179Ser) n.7433G>T | |
| 5 | g.90694174C>A | CA360377266 | ADGRV1 | c.7418C>A (p.Ala2473Asp) c.265+17965C>A (n.265+17965C>A) n.2877C>A c.1225C>A n.562C>A c.4709C>A (p.Ala1570Asp) c.2147C>A c.115C>A n.7431C>A c.7415C>A (p.Ala2472Asp) c.7337C>A (p.Ala2446Asp) c.4721C>A (p.Ala1574Asp) c.7322C>A (p.Ala2441Asp) c.536C>A (p.Ala179Asp) n.7434C>A | gnomAD v4 |
| 5 | g.90694174C>G | CA360377262 | ADGRV1 | c.7418C>G (p.Ala2473Gly) c.265+17965C>G (n.265+17965C>G) n.2877C>G c.1225C>G n.562C>G c.4709C>G (p.Ala1570Gly) c.2147C>G c.115C>G n.7431C>G c.7415C>G (p.Ala2472Gly) c.7337C>G (p.Ala2446Gly) c.4721C>G (p.Ala1574Gly) c.7322C>G (p.Ala2441Gly) c.536C>G (p.Ala179Gly) n.7434C>G | |
| 5 | g.90694174C>T | CA360377284 | ADGRV1 | c.7418C>T (p.Ala2473Val) c.265+17965C>T (n.265+17965C>T) n.2877C>T c.1225C>T n.562C>T c.4709C>T (p.Ala1570Val) c.2147C>T c.115C>T n.7431C>T c.7415C>T (p.Ala2472Val) c.7337C>T (p.Ala2446Val) c.4721C>T (p.Ala1574Val) c.7322C>T (p.Ala2441Val) c.536C>T (p.Ala179Val) n.7434C>T | |
| 5 | g.90694175T>A | CA445468301 | ADGRV1 | c.7419T>A (p.Ala2473=) c.265+17966T>A (n.265+17966T>A) n.2878T>A c.1226T>A n.563T>A c.4710T>A (p.Ala1570=) c.2148T>A c.116T>A n.7432T>A c.7416T>A (p.Ala2472=) c.7338T>A (p.Ala2446=) c.4722T>A (p.Ala1574=) c.7323T>A (p.Ala2441=) c.537T>A (p.Ala179=) n.7435T>A | |
| 5 | g.90694175T>C | CA445468300 | ADGRV1 | c.7419T>C (p.Ala2473=) c.265+17966T>C (n.265+17966T>C) n.2878T>C c.1226T>C n.563T>C c.4710T>C (p.Ala1570=) c.2148T>C c.116T>C n.7432T>C c.7416T>C (p.Ala2472=) c.7338T>C (p.Ala2446=) c.4722T>C (p.Ala1574=) c.7323T>C (p.Ala2441=) c.537T>C (p.Ala179=) n.7435T>C | |
| 5 | g.90694175T>G | CA445468304 | ADGRV1 | c.7419T>G (p.Ala2473=) c.265+17966T>G (n.265+17966T>G) n.2878T>G c.1226T>G n.563T>G c.4710T>G (p.Ala1570=) c.2148T>G c.116T>G n.7432T>G c.7416T>G (p.Ala2472=) c.7338T>G (p.Ala2446=) c.4722T>G (p.Ala1574=) c.7323T>G (p.Ala2441=) c.537T>G (p.Ala179=) n.7435T>G | |
| 5 | g.90694176G>A | CA360377287 | ADGRV1 | c.7420G>A (p.Val2474Ile) c.265+17967G>A (n.265+17967G>A) n.2879G>A c.1227G>A n.564G>A c.4711G>A (p.Val1571Ile) c.2149G>A c.117G>A n.7433G>A c.7417G>A (p.Val2473Ile) c.7339G>A (p.Val2447Ile) c.4723G>A (p.Val1575Ile) c.7324G>A (p.Val2442Ile) c.538G>A (p.Val180Ile) n.7436G>A | COSMIC |
| 5 | g.90694176G>C | CA360377292 | ADGRV1 | c.7420G>C (p.Val2474Leu) c.265+17967G>C (n.265+17967G>C) n.2879G>C c.1227G>C n.564G>C c.4711G>C (p.Val1571Leu) c.2149G>C c.117G>C n.7433G>C c.7417G>C (p.Val2473Leu) c.7339G>C (p.Val2447Leu) c.4723G>C (p.Val1575Leu) c.7324G>C (p.Val2442Leu) c.538G>C (p.Val180Leu) n.7436G>C | gnomAD v4 |
| 5 | g.90694176G>T | CA360377296 | ADGRV1 | c.7420G>T (p.Val2474Phe) c.265+17967G>T (n.265+17967G>T) n.2879G>T c.1227G>T n.564G>T c.4711G>T (p.Val1571Phe) c.2149G>T c.117G>T n.7433G>T c.7417G>T (p.Val2473Phe) c.7339G>T (p.Val2447Phe) c.4723G>T (p.Val1575Phe) c.7324G>T (p.Val2442Phe) c.538G>T (p.Val180Phe) n.7436G>T | |
| 5 | g.90694177T>A | CA360377315 | ADGRV1 | c.7421T>A (p.Val2474Asp) c.265+17968T>A (n.265+17968T>A) n.2880T>A c.1228T>A n.565T>A c.4712T>A (p.Val1571Asp) c.2150T>A c.118T>A n.7434T>A c.7418T>A (p.Val2473Asp) c.7340T>A (p.Val2447Asp) c.4724T>A (p.Val1575Asp) c.7325T>A (p.Val2442Asp) c.539T>A (p.Val180Asp) n.7437T>A | |
| 5 | g.90694177T>C | CA360377318 | ADGRV1 | c.7421T>C (p.Val2474Ala) c.265+17968T>C (n.265+17968T>C) n.2880T>C c.1228T>C n.565T>C c.4712T>C (p.Val1571Ala) c.2150T>C c.118T>C n.7434T>C c.7418T>C (p.Val2473Ala) c.7340T>C (p.Val2447Ala) c.4724T>C (p.Val1575Ala) c.7325T>C (p.Val2442Ala) c.539T>C (p.Val180Ala) n.7437T>C |