Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.90712294A= | CA1562867518 | ADGRV1 | c.9050A= (p.His3017=) c.265+36085A= (n.265+36085A=) n.4509A= c.2857A= n.2194A= c.3779A= c.1747A= n.9063A= c.9047A= (p.His3016=) c.8969A= (p.His2990=) c.6353A= (p.His2118=) c.9071A= (p.His3024=) c.9068A= (p.His3023=) c.8990A= (p.His2997=) c.8975A= (p.His2992=) c.2189A= (p.His730=) c.2168A= (p.His723=) n.9066A= | |
5 | g.90712294A>C | CA360396126 | ADGRV1 | c.9050A>C (p.His3017Pro) c.265+36085A>C (n.265+36085A>C) n.4509A>C c.2857A>C n.2194A>C c.3779A>C c.1747A>C n.9063A>C c.9047A>C (p.His3016Pro) c.8969A>C (p.His2990Pro) c.6353A>C (p.His2118Pro) c.9071A>C (p.His3024Pro) c.9068A>C (p.His3023Pro) c.8990A>C (p.His2997Pro) c.8975A>C (p.His2992Pro) c.2189A>C (p.His730Pro) c.2168A>C (p.His723Pro) n.9066A>C | |
5 | g.90712294A>G | CA360396127 | ADGRV1 | c.9050A>G (p.His3017Arg) c.265+36085A>G (n.265+36085A>G) n.4509A>G c.2857A>G n.2194A>G c.3779A>G c.1747A>G n.9063A>G c.9047A>G (p.His3016Arg) c.8969A>G (p.His2990Arg) c.6353A>G (p.His2118Arg) c.9071A>G (p.His3024Arg) c.9068A>G (p.His3023Arg) c.8990A>G (p.His2997Arg) c.8975A>G (p.His2992Arg) c.2189A>G (p.His730Arg) c.2168A>G (p.His723Arg) n.9066A>G | gnomAD v4 |
5 | g.90712294A>T | CA360396128 | ADGRV1 | c.9050A>T (p.His3017Leu) c.265+36085A>T (n.265+36085A>T) n.4509A>T c.2857A>T n.2194A>T c.3779A>T c.1747A>T n.9063A>T c.9047A>T (p.His3016Leu) c.8969A>T (p.His2990Leu) c.6353A>T (p.His2118Leu) c.9071A>T (p.His3024Leu) c.9068A>T (p.His3023Leu) c.8990A>T (p.His2997Leu) c.8975A>T (p.His2992Leu) c.2189A>T (p.His730Leu) c.2168A>T (p.His723Leu) n.9066A>T | |
5 | g.90712295T>A | CA360396129 | ADGRV1 | c.9051T>A (p.His3017Gln) c.265+36086T>A (n.265+36086T>A) n.4510T>A c.2858T>A n.2195T>A c.3780T>A c.1748T>A n.9064T>A c.9048T>A (p.His3016Gln) c.8970T>A (p.His2990Gln) c.6354T>A (p.His2118Gln) c.9072T>A (p.His3024Gln) c.9069T>A (p.His3023Gln) c.8991T>A (p.His2997Gln) c.8976T>A (p.His2992Gln) c.2190T>A (p.His730Gln) c.2169T>A (p.His723Gln) n.9067T>A | gnomAD v4 |
5 | g.90712295T>C | CA445411730 | ADGRV1 | c.9051T>C (p.His3017=) c.265+36086T>C (n.265+36086T>C) n.4510T>C c.2858T>C n.2195T>C c.3780T>C c.1748T>C n.9064T>C c.9048T>C (p.His3016=) c.8970T>C (p.His2990=) c.6354T>C (p.His2118=) c.9072T>C (p.His3024=) c.9069T>C (p.His3023=) c.8991T>C (p.His2997=) c.8976T>C (p.His2992=) c.2190T>C (p.His730=) c.2169T>C (p.His723=) n.9067T>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90712295T>G | CA360396130 | ADGRV1 | c.9051T>G (p.His3017Gln) c.265+36086T>G (n.265+36086T>G) n.4510T>G c.2858T>G n.2195T>G c.3780T>G c.1748T>G n.9064T>G c.9048T>G (p.His3016Gln) c.8970T>G (p.His2990Gln) c.6354T>G (p.His2118Gln) c.9072T>G (p.His3024Gln) c.9069T>G (p.His3023Gln) c.8991T>G (p.His2997Gln) c.8976T>G (p.His2992Gln) c.2190T>G (p.His730Gln) c.2169T>G (p.His723Gln) n.9067T>G | |
5 | g.90712295T= | CA1562867519 | ADGRV1 | c.9051T= (p.His3017=) c.265+36086T= (n.265+36086T=) n.4510T= c.2858T= n.2195T= c.3780T= c.1748T= n.9064T= c.9048T= (p.His3016=) c.8970T= (p.His2990=) c.6354T= (p.His2118=) c.9072T= (p.His3024=) c.9069T= (p.His3023=) c.8991T= (p.His2997=) c.8976T= (p.His2992=) c.2190T= (p.His730=) c.2169T= (p.His723=) n.9067T= | |
5 | g.90712298dup | CA815351894 | ADGRV1 | c.9054dup (p.Ala3019CysfsTer2) c.265+36089dup (n.265+36089dup) n.4513dup c.2861dup n.2198dup c.3783dup c.1751dup n.9067dup c.9051dup (p.Ala3018CysfsTer2) c.8973dup (p.Ala2992CysfsTer2) c.6357dup (p.Ala2120CysfsTer2) c.9075dup (p.Ala3026CysfsTer2) c.9072dup (p.Ala3025CysfsTer2) c.8994dup (p.Ala2999CysfsTer2) c.8979dup (p.Ala2994CysfsTer2) c.2193dup (p.Ala732CysfsTer2) c.2172dup (p.Ala725CysfsTer2) n.9070dup | dbSNP gnomAD v4 |
5 | g.90712296T>A | CA360396131 | ADGRV1 | c.9052T>A (p.Phe3018Ile) c.265+36087T>A (n.265+36087T>A) n.4511T>A c.2859T>A n.2196T>A c.3781T>A c.1749T>A n.9065T>A c.9049T>A (p.Phe3017Ile) c.8971T>A (p.Phe2991Ile) c.6355T>A (p.Phe2119Ile) c.9073T>A (p.Phe3025Ile) c.9070T>A (p.Phe3024Ile) c.8992T>A (p.Phe2998Ile) c.8977T>A (p.Phe2993Ile) c.2191T>A (p.Phe731Ile) c.2170T>A (p.Phe724Ile) n.9068T>A | dbSNP |
5 | g.90712296T>C | CA3340436 | ADGRV1 | c.9052T>C (p.Phe3018Leu) c.265+36087T>C (n.265+36087T>C) n.4511T>C c.2859T>C n.2196T>C c.3781T>C c.1749T>C n.9065T>C c.9049T>C (p.Phe3017Leu) c.8971T>C (p.Phe2991Leu) c.6355T>C (p.Phe2119Leu) c.9073T>C (p.Phe3025Leu) c.9070T>C (p.Phe3024Leu) c.8992T>C (p.Phe2998Leu) c.8977T>C (p.Phe2993Leu) c.2191T>C (p.Phe731Leu) c.2170T>C (p.Phe724Leu) n.9068T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90712296T>G | CA360396132 | ADGRV1 | c.9052T>G (p.Phe3018Val) c.265+36087T>G (n.265+36087T>G) n.4511T>G c.2859T>G n.2196T>G c.3781T>G c.1749T>G n.9065T>G c.9049T>G (p.Phe3017Val) c.8971T>G (p.Phe2991Val) c.6355T>G (p.Phe2119Val) c.9073T>G (p.Phe3025Val) c.9070T>G (p.Phe3024Val) c.8992T>G (p.Phe2998Val) c.8977T>G (p.Phe2993Val) c.2191T>G (p.Phe731Val) c.2170T>G (p.Phe724Val) n.9068T>G | |
5 | g.90712296T= | CA1562867520 | ADGRV1 | c.9052T= (p.Phe3018=) c.265+36087T= (n.265+36087T=) n.4511T= c.2859T= n.2196T= c.3781T= c.1749T= n.9065T= c.9049T= (p.Phe3017=) c.8971T= (p.Phe2991=) c.6355T= (p.Phe2119=) c.9073T= (p.Phe3025=) c.9070T= (p.Phe3024=) c.8992T= (p.Phe2998=) c.8977T= (p.Phe2993=) c.2191T= (p.Phe731=) c.2170T= (p.Phe724=) n.9068T= | |
5 | g.90712297T>A | CA360396133 | ADGRV1 | c.9053T>A (p.Phe3018Tyr) c.265+36088T>A (n.265+36088T>A) n.4512T>A c.2860T>A n.2197T>A c.3782T>A c.1750T>A n.9066T>A c.9050T>A (p.Phe3017Tyr) c.8972T>A (p.Phe2991Tyr) c.6356T>A (p.Phe2119Tyr) c.9074T>A (p.Phe3025Tyr) c.9071T>A (p.Phe3024Tyr) c.8993T>A (p.Phe2998Tyr) c.8978T>A (p.Phe2993Tyr) c.2192T>A (p.Phe731Tyr) c.2171T>A (p.Phe724Tyr) n.9069T>A | |
5 | g.90712297T>C | CA360396134 | ADGRV1 | c.9053T>C (p.Phe3018Ser) c.265+36088T>C (n.265+36088T>C) n.4512T>C c.2860T>C n.2197T>C c.3782T>C c.1750T>C n.9066T>C c.9050T>C (p.Phe3017Ser) c.8972T>C (p.Phe2991Ser) c.6356T>C (p.Phe2119Ser) c.9074T>C (p.Phe3025Ser) c.9071T>C (p.Phe3024Ser) c.8993T>C (p.Phe2998Ser) c.8978T>C (p.Phe2993Ser) c.2192T>C (p.Phe731Ser) c.2171T>C (p.Phe724Ser) n.9069T>C | |
5 | g.90712297T>G | CA360396135 | ADGRV1 | c.9053T>G (p.Phe3018Cys) c.265+36088T>G (n.265+36088T>G) n.4512T>G c.2860T>G n.2197T>G c.3782T>G c.1750T>G n.9066T>G c.9050T>G (p.Phe3017Cys) c.8972T>G (p.Phe2991Cys) c.6356T>G (p.Phe2119Cys) c.9074T>G (p.Phe3025Cys) c.9071T>G (p.Phe3024Cys) c.8993T>G (p.Phe2998Cys) c.8978T>G (p.Phe2993Cys) c.2192T>G (p.Phe731Cys) c.2171T>G (p.Phe724Cys) n.9069T>G | |
5 | g.90712298T>A | CA360396136 | ADGRV1 | c.9054T>A (p.Phe3018Leu) c.265+36089T>A (n.265+36089T>A) n.4513T>A c.2861T>A n.2198T>A c.3783T>A c.1751T>A n.9067T>A c.9051T>A (p.Phe3017Leu) c.8973T>A (p.Phe2991Leu) c.6357T>A (p.Phe2119Leu) c.9075T>A (p.Phe3025Leu) c.9072T>A (p.Phe3024Leu) c.8994T>A (p.Phe2998Leu) c.8979T>A (p.Phe2993Leu) c.2193T>A (p.Phe731Leu) c.2172T>A (p.Phe724Leu) n.9070T>A | |
5 | g.90712298T>C | CA445411736 | ADGRV1 | c.9054T>C (p.Phe3018=) c.265+36089T>C (n.265+36089T>C) n.4513T>C c.2861T>C n.2198T>C c.3783T>C c.1751T>C n.9067T>C c.9051T>C (p.Phe3017=) c.8973T>C (p.Phe2991=) c.6357T>C (p.Phe2119=) c.9075T>C (p.Phe3025=) c.9072T>C (p.Phe3024=) c.8994T>C (p.Phe2998=) c.8979T>C (p.Phe2993=) c.2193T>C (p.Phe731=) c.2172T>C (p.Phe724=) n.9070T>C | |
5 | g.90712298T>G | CA3340437 | ADGRV1 | c.9054T>G (p.Phe3018Leu) c.265+36089T>G (n.265+36089T>G) n.4513T>G c.2861T>G n.2198T>G c.3783T>G c.1751T>G n.9067T>G c.9051T>G (p.Phe3017Leu) c.8973T>G (p.Phe2991Leu) c.6357T>G (p.Phe2119Leu) c.9075T>G (p.Phe3025Leu) c.9072T>G (p.Phe3024Leu) c.8994T>G (p.Phe2998Leu) c.8979T>G (p.Phe2993Leu) c.2193T>G (p.Phe731Leu) c.2172T>G (p.Phe724Leu) n.9070T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90712298T= | CA1562867521 | ADGRV1 | c.9054T= (p.Phe3018=) c.265+36089T= (n.265+36089T=) n.4513T= c.2861T= n.2198T= c.3783T= c.1751T= n.9067T= c.9051T= (p.Phe3017=) c.8973T= (p.Phe2991=) c.6357T= (p.Phe2119=) c.9075T= (p.Phe3025=) c.9072T= (p.Phe3024=) c.8994T= (p.Phe2998=) c.8979T= (p.Phe2993=) c.2193T= (p.Phe731=) c.2172T= (p.Phe724=) n.9070T= | |
5 | g.90712299G>A | CA360396139 | ADGRV1 | c.9055G>A (p.Ala3019Thr) c.265+36090G>A (n.265+36090G>A) n.4514G>A c.2862G>A n.2199G>A c.3784G>A c.1752G>A n.9068G>A c.9052G>A (p.Ala3018Thr) c.8974G>A (p.Ala2992Thr) c.6358G>A (p.Ala2120Thr) c.9076G>A (p.Ala3026Thr) c.9073G>A (p.Ala3025Thr) c.8995G>A (p.Ala2999Thr) c.8980G>A (p.Ala2994Thr) c.2194G>A (p.Ala732Thr) c.2173G>A (p.Ala725Thr) n.9071G>A | ClinVar dbSNP gnomAD v4 |
5 | g.90712299G>C | CA360396138 | ADGRV1 | c.9055G>C (p.Ala3019Pro) c.265+36090G>C (n.265+36090G>C) n.4514G>C c.2862G>C n.2199G>C c.3784G>C c.1752G>C n.9068G>C c.9052G>C (p.Ala3018Pro) c.8974G>C (p.Ala2992Pro) c.6358G>C (p.Ala2120Pro) c.9076G>C (p.Ala3026Pro) c.9073G>C (p.Ala3025Pro) c.8995G>C (p.Ala2999Pro) c.8980G>C (p.Ala2994Pro) c.2194G>C (p.Ala732Pro) c.2173G>C (p.Ala725Pro) n.9071G>C | gnomAD v4 |
5 | g.90712299G>T | CA360396137 | ADGRV1 | c.9055G>T (p.Ala3019Ser) c.265+36090G>T (n.265+36090G>T) n.4514G>T c.2862G>T n.2199G>T c.3784G>T c.1752G>T n.9068G>T c.9052G>T (p.Ala3018Ser) c.8974G>T (p.Ala2992Ser) c.6358G>T (p.Ala2120Ser) c.9076G>T (p.Ala3026Ser) c.9073G>T (p.Ala3025Ser) c.8995G>T (p.Ala2999Ser) c.8980G>T (p.Ala2994Ser) c.2194G>T (p.Ala732Ser) c.2173G>T (p.Ala725Ser) n.9071G>T | gnomAD v4 |
5 | g.90712300C>A | CA360396140 | ADGRV1 | c.9056C>A (p.Ala3019Asp) c.265+36091C>A (n.265+36091C>A) n.4515C>A c.2863C>A n.2200C>A c.3785C>A c.1753C>A n.9069C>A c.9053C>A (p.Ala3018Asp) c.8975C>A (p.Ala2992Asp) c.6359C>A (p.Ala2120Asp) c.9077C>A (p.Ala3026Asp) c.9074C>A (p.Ala3025Asp) c.8996C>A (p.Ala2999Asp) c.8981C>A (p.Ala2994Asp) c.2195C>A (p.Ala732Asp) c.2174C>A (p.Ala725Asp) n.9072C>A | gnomAD v4 COSMIC |
5 | g.90712300C= | CA1562867522 | ADGRV1 | c.9056C= (p.Ala3019=) c.265+36091C= (n.265+36091C=) n.4515C= c.2863C= n.2200C= c.3785C= c.1753C= n.9069C= c.9053C= (p.Ala3018=) c.8975C= (p.Ala2992=) c.6359C= (p.Ala2120=) c.9077C= (p.Ala3026=) c.9074C= (p.Ala3025=) c.8996C= (p.Ala2999=) c.8981C= (p.Ala2994=) c.2195C= (p.Ala732=) c.2174C= (p.Ala725=) n.9072C= | |
5 | g.90712300C>G | CA360396141 | ADGRV1 | c.9056C>G (p.Ala3019Gly) c.265+36091C>G (n.265+36091C>G) n.4515C>G c.2863C>G n.2200C>G c.3785C>G c.1753C>G n.9069C>G c.9053C>G (p.Ala3018Gly) c.8975C>G (p.Ala2992Gly) c.6359C>G (p.Ala2120Gly) c.9077C>G (p.Ala3026Gly) c.9074C>G (p.Ala3025Gly) c.8996C>G (p.Ala2999Gly) c.8981C>G (p.Ala2994Gly) c.2195C>G (p.Ala732Gly) c.2174C>G (p.Ala725Gly) n.9072C>G | gnomAD v4 |
5 | g.90712300C>T | CA122804739 | ADGRV1 | c.9056C>T (p.Ala3019Val) c.265+36091C>T (n.265+36091C>T) n.4515C>T c.2863C>T n.2200C>T c.3785C>T c.1753C>T n.9069C>T c.9053C>T (p.Ala3018Val) c.8975C>T (p.Ala2992Val) c.6359C>T (p.Ala2120Val) c.9077C>T (p.Ala3026Val) c.9074C>T (p.Ala3025Val) c.8996C>T (p.Ala2999Val) c.8981C>T (p.Ala2994Val) c.2195C>T (p.Ala732Val) c.2174C>T (p.Ala725Val) n.9072C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90712301T>A | CA445411744 | ADGRV1 | c.9057T>A (p.Ala3019=) c.265+36092T>A (n.265+36092T>A) n.4516T>A c.2864T>A n.2201T>A c.3786T>A c.1754T>A n.9070T>A c.9054T>A (p.Ala3018=) c.8976T>A (p.Ala2992=) c.6360T>A (p.Ala2120=) c.9078T>A (p.Ala3026=) c.9075T>A (p.Ala3025=) c.8997T>A (p.Ala2999=) c.8982T>A (p.Ala2994=) c.2196T>A (p.Ala732=) c.2175T>A (p.Ala725=) n.9073T>A | |
5 | g.90712301T>C | CA445411745 | ADGRV1 | c.9057T>C (p.Ala3019=) c.265+36092T>C (n.265+36092T>C) n.4516T>C c.2864T>C n.2201T>C c.3786T>C c.1754T>C n.9070T>C c.9054T>C (p.Ala3018=) c.8976T>C (p.Ala2992=) c.6360T>C (p.Ala2120=) c.9078T>C (p.Ala3026=) c.9075T>C (p.Ala3025=) c.8997T>C (p.Ala2999=) c.8982T>C (p.Ala2994=) c.2196T>C (p.Ala732=) c.2175T>C (p.Ala725=) n.9073T>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90712301T>G | CA445411746 | ADGRV1 | c.9057T>G (p.Ala3019=) c.265+36092T>G (n.265+36092T>G) n.4516T>G c.2864T>G n.2201T>G c.3786T>G c.1754T>G n.9070T>G c.9054T>G (p.Ala3018=) c.8976T>G (p.Ala2992=) c.6360T>G (p.Ala2120=) c.9078T>G (p.Ala3026=) c.9075T>G (p.Ala3025=) c.8997T>G (p.Ala2999=) c.8982T>G (p.Ala2994=) c.2196T>G (p.Ala732=) c.2175T>G (p.Ala725=) n.9073T>G | |
5 | g.90712301T= | CA1562867523 | ADGRV1 | c.9057T= (p.Ala3019=) c.265+36092T= (n.265+36092T=) n.4516T= c.2864T= n.2201T= c.3786T= c.1754T= n.9070T= c.9054T= (p.Ala3018=) c.8976T= (p.Ala2992=) c.6360T= (p.Ala2120=) c.9078T= (p.Ala3026=) c.9075T= (p.Ala3025=) c.8997T= (p.Ala2999=) c.8982T= (p.Ala2994=) c.2196T= (p.Ala732=) c.2175T= (p.Ala725=) n.9073T= | |
5 | g.90712302del | CA2674570022 | ADGRV1 | c.9058del (p.Asp3020MetfsTer11) c.265+36093del (n.265+36093del) n.4517del c.2865del n.2202del c.3787del c.1755del n.9071del c.9055del (p.Asp3019MetfsTer11) c.8977del (p.Asp2993MetfsTer11) c.6361del (p.Asp2121MetfsTer11) c.9079del (p.Asp3027MetfsTer11) c.9076del (p.Asp3026MetfsTer11) c.8998del (p.Asp3000MetfsTer11) c.8983del (p.Asp2995MetfsTer11) c.2197del (p.Asp733MetfsTer11) c.2176del (p.Asp726MetfsTer11) n.9074del | gnomAD v4 |
5 | g.90712302G>A | CA360396142 | ADGRV1 | c.9058G>A (p.Asp3020Asn) c.265+36093G>A (n.265+36093G>A) n.4517G>A c.2865G>A n.2202G>A c.3787G>A c.1755G>A n.9071G>A c.9055G>A (p.Asp3019Asn) c.8977G>A (p.Asp2993Asn) c.6361G>A (p.Asp2121Asn) c.9079G>A (p.Asp3027Asn) c.9076G>A (p.Asp3026Asn) c.8998G>A (p.Asp3000Asn) c.8983G>A (p.Asp2995Asn) c.2197G>A (p.Asp733Asn) c.2176G>A (p.Asp726Asn) n.9074G>A | |
5 | g.90712302G>C | CA360396143 | ADGRV1 | c.9058G>C (p.Asp3020His) c.265+36093G>C (n.265+36093G>C) n.4517G>C c.2865G>C n.2202G>C c.3787G>C c.1755G>C n.9071G>C c.9055G>C (p.Asp3019His) c.8977G>C (p.Asp2993His) c.6361G>C (p.Asp2121His) c.9079G>C (p.Asp3027His) c.9076G>C (p.Asp3026His) c.8998G>C (p.Asp3000His) c.8983G>C (p.Asp2995His) c.2197G>C (p.Asp733His) c.2176G>C (p.Asp726His) n.9074G>C | |
5 | g.90712302G>T | CA360396144 | ADGRV1 | c.9058G>T (p.Asp3020Tyr) c.265+36093G>T (n.265+36093G>T) n.4517G>T c.2865G>T n.2202G>T c.3787G>T c.1755G>T n.9071G>T c.9055G>T (p.Asp3019Tyr) c.8977G>T (p.Asp2993Tyr) c.6361G>T (p.Asp2121Tyr) c.9079G>T (p.Asp3027Tyr) c.9076G>T (p.Asp3026Tyr) c.8998G>T (p.Asp3000Tyr) c.8983G>T (p.Asp2995Tyr) c.2197G>T (p.Asp733Tyr) c.2176G>T (p.Asp726Tyr) n.9074G>T | gnomAD v4 |
5 | g.90712303A= | CA1562867524 | ADGRV1 | c.9059A= (p.Asp3020=) c.265+36094A= (n.265+36094A=) n.4518A= c.2866A= n.2203A= c.3788A= c.1756A= n.9072A= c.9056A= (p.Asp3019=) c.8978A= (p.Asp2993=) c.6362A= (p.Asp2121=) c.9080A= (p.Asp3027=) c.9077A= (p.Asp3026=) c.8999A= (p.Asp3000=) c.8984A= (p.Asp2995=) c.2198A= (p.Asp733=) c.2177A= (p.Asp726=) n.9075A= | |
5 | g.90712303A>C | CA360396147 | ADGRV1 | c.9059A>C (p.Asp3020Ala) c.265+36094A>C (n.265+36094A>C) n.4518A>C c.2866A>C n.2203A>C c.3788A>C c.1756A>C n.9072A>C c.9056A>C (p.Asp3019Ala) c.8978A>C (p.Asp2993Ala) c.6362A>C (p.Asp2121Ala) c.9080A>C (p.Asp3027Ala) c.9077A>C (p.Asp3026Ala) c.8999A>C (p.Asp3000Ala) c.8984A>C (p.Asp2995Ala) c.2198A>C (p.Asp733Ala) c.2177A>C (p.Asp726Ala) n.9075A>C | |
5 | g.90712303A>G | CA360396145 | ADGRV1 | c.9059A>G (p.Asp3020Gly) c.265+36094A>G (n.265+36094A>G) n.4518A>G c.2866A>G n.2203A>G c.3788A>G c.1756A>G n.9072A>G c.9056A>G (p.Asp3019Gly) c.8978A>G (p.Asp2993Gly) c.6362A>G (p.Asp2121Gly) c.9080A>G (p.Asp3027Gly) c.9077A>G (p.Asp3026Gly) c.8999A>G (p.Asp3000Gly) c.8984A>G (p.Asp2995Gly) c.2198A>G (p.Asp733Gly) c.2177A>G (p.Asp726Gly) n.9075A>G | dbSNP |
5 | g.90712303A>T | CA360396146 | ADGRV1 | c.9059A>T (p.Asp3020Val) c.265+36094A>T (n.265+36094A>T) n.4518A>T c.2866A>T n.2203A>T c.3788A>T c.1756A>T n.9072A>T c.9056A>T (p.Asp3019Val) c.8978A>T (p.Asp2993Val) c.6362A>T (p.Asp2121Val) c.9080A>T (p.Asp3027Val) c.9077A>T (p.Asp3026Val) c.8999A>T (p.Asp3000Val) c.8984A>T (p.Asp2995Val) c.2198A>T (p.Asp733Val) c.2177A>T (p.Asp726Val) n.9075A>T | gnomAD v4 |
5 | g.90712304T>A | CA360396148 | ADGRV1 | c.9060T>A (p.Asp3020Glu) c.265+36095T>A (n.265+36095T>A) n.4519T>A c.2867T>A n.2204T>A c.3789T>A c.1757T>A n.9073T>A c.9057T>A (p.Asp3019Glu) c.8979T>A (p.Asp2993Glu) c.6363T>A (p.Asp2121Glu) c.9081T>A (p.Asp3027Glu) c.9078T>A (p.Asp3026Glu) c.9000T>A (p.Asp3000Glu) c.8985T>A (p.Asp2995Glu) c.2199T>A (p.Asp733Glu) c.2178T>A (p.Asp726Glu) n.9076T>A | gnomAD v4 |
5 | g.90712304T>C | CA3340438 | ADGRV1 | c.9060T>C (p.Asp3020=) c.265+36095T>C (n.265+36095T>C) n.4519T>C c.2867T>C n.2204T>C c.3789T>C c.1757T>C n.9073T>C c.9057T>C (p.Asp3019=) c.8979T>C (p.Asp2993=) c.6363T>C (p.Asp2121=) c.9081T>C (p.Asp3027=) c.9078T>C (p.Asp3026=) c.9000T>C (p.Asp3000=) c.8985T>C (p.Asp2995=) c.2199T>C (p.Asp733=) c.2178T>C (p.Asp726=) n.9076T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90712304T>G | CA360396149 | ADGRV1 | c.9060T>G (p.Asp3020Glu) c.265+36095T>G (n.265+36095T>G) n.4519T>G c.2867T>G n.2204T>G c.3789T>G c.1757T>G n.9073T>G c.9057T>G (p.Asp3019Glu) c.8979T>G (p.Asp2993Glu) c.6363T>G (p.Asp2121Glu) c.9081T>G (p.Asp3027Glu) c.9078T>G (p.Asp3026Glu) c.9000T>G (p.Asp3000Glu) c.8985T>G (p.Asp2995Glu) c.2199T>G (p.Asp733Glu) c.2178T>G (p.Asp726Glu) n.9076T>G | |
5 | g.90712304T= | CA1562867525 | ADGRV1 | c.9060T= (p.Asp3020=) c.265+36095T= (n.265+36095T=) n.4519T= c.2867T= n.2204T= c.3789T= c.1757T= n.9073T= c.9057T= (p.Asp3019=) c.8979T= (p.Asp2993=) c.6363T= (p.Asp2121=) c.9081T= (p.Asp3027=) c.9078T= (p.Asp3026=) c.9000T= (p.Asp3000=) c.8985T= (p.Asp2995=) c.2199T= (p.Asp733=) c.2178T= (p.Asp726=) n.9076T= | |
5 | g.90712305G>A | CA360396150 | ADGRV1 | c.9061G>A (p.Gly3021Arg) c.265+36096G>A (n.265+36096G>A) n.4520G>A c.2868G>A n.2205G>A c.3790G>A c.1758G>A n.9074G>A c.9058G>A (p.Gly3020Arg) c.8980G>A (p.Gly2994Arg) c.6364G>A (p.Gly2122Arg) c.9082G>A (p.Gly3028Arg) c.9079G>A (p.Gly3027Arg) c.9001G>A (p.Gly3001Arg) c.8986G>A (p.Gly2996Arg) c.2200G>A (p.Gly734Arg) c.2179G>A (p.Gly727Arg) n.9077G>A | gnomAD v4 |
5 | g.90712305G>C | CA360396151 | ADGRV1 | c.9061G>C (p.Gly3021Arg) c.265+36096G>C (n.265+36096G>C) n.4520G>C c.2868G>C n.2205G>C c.3790G>C c.1758G>C n.9074G>C c.9058G>C (p.Gly3020Arg) c.8980G>C (p.Gly2994Arg) c.6364G>C (p.Gly2122Arg) c.9082G>C (p.Gly3028Arg) c.9079G>C (p.Gly3027Arg) c.9001G>C (p.Gly3001Arg) c.8986G>C (p.Gly2996Arg) c.2200G>C (p.Gly734Arg) c.2179G>C (p.Gly727Arg) n.9077G>C | |
5 | g.90712305G>T | CA360396152 | ADGRV1 | c.9061G>T (p.Gly3021Ter) c.265+36096G>T (n.265+36096G>T) n.4520G>T c.2868G>T n.2205G>T c.3790G>T c.1758G>T n.9074G>T c.9058G>T (p.Gly3020Ter) c.8980G>T (p.Gly2994Ter) c.6364G>T (p.Gly2122Ter) c.9082G>T (p.Gly3028Ter) c.9079G>T (p.Gly3027Ter) c.9001G>T (p.Gly3001Ter) c.8986G>T (p.Gly2996Ter) c.2200G>T (p.Gly734Ter) c.2179G>T (p.Gly727Ter) n.9077G>T | |
5 | g.90712306del | CA2674570030 | ADGRV1 | c.9062del (p.Gly3021GlufsTer10) c.265+36097del (n.265+36097del) n.4521del c.2869del n.2206del c.3791del c.1759del n.9075del c.9059del (p.Gly3020GlufsTer10) c.8981del (p.Gly2994GlufsTer10) c.6365del (p.Gly2122GlufsTer10) c.9083del (p.Gly3028GlufsTer10) c.9080del (p.Gly3027GlufsTer10) c.9002del (p.Gly3001GlufsTer10) c.8987del (p.Gly2996GlufsTer10) c.2201del (p.Gly734GlufsTer10) c.2180del (p.Gly727GlufsTer10) n.9078del | gnomAD v4 |
5 | g.90712306G>A | CA360396153 | ADGRV1 | c.9062G>A (p.Gly3021Glu) c.265+36097G>A (n.265+36097G>A) n.4521G>A c.2869G>A n.2206G>A c.3791G>A c.1759G>A n.9075G>A c.9059G>A (p.Gly3020Glu) c.8981G>A (p.Gly2994Glu) c.6365G>A (p.Gly2122Glu) c.9083G>A (p.Gly3028Glu) c.9080G>A (p.Gly3027Glu) c.9002G>A (p.Gly3001Glu) c.8987G>A (p.Gly2996Glu) c.2201G>A (p.Gly734Glu) c.2180G>A (p.Gly727Glu) n.9078G>A | |
5 | g.90712306G>C | CA360396154 | ADGRV1 | c.9062G>C (p.Gly3021Ala) c.265+36097G>C (n.265+36097G>C) n.4521G>C c.2869G>C n.2206G>C c.3791G>C c.1759G>C n.9075G>C c.9059G>C (p.Gly3020Ala) c.8981G>C (p.Gly2994Ala) c.6365G>C (p.Gly2122Ala) c.9083G>C (p.Gly3028Ala) c.9080G>C (p.Gly3027Ala) c.9002G>C (p.Gly3001Ala) c.8987G>C (p.Gly2996Ala) c.2201G>C (p.Gly734Ala) c.2180G>C (p.Gly727Ala) n.9078G>C | |
5 | g.90712306G>T | CA360396155 | ADGRV1 | c.9062G>T (p.Gly3021Val) c.265+36097G>T (n.265+36097G>T) n.4521G>T c.2869G>T n.2206G>T c.3791G>T c.1759G>T n.9075G>T c.9059G>T (p.Gly3020Val) c.8981G>T (p.Gly2994Val) c.6365G>T (p.Gly2122Val) c.9083G>T (p.Gly3028Val) c.9080G>T (p.Gly3027Val) c.9002G>T (p.Gly3001Val) c.8987G>T (p.Gly2996Val) c.2201G>T (p.Gly734Val) c.2180G>T (p.Gly727Val) n.9078G>T | gnomAD v4 |
5 | g.90712307A>C | CA445411764 | ADGRV1 | c.9063A>C (p.Gly3021=) c.265+36098A>C (n.265+36098A>C) n.4522A>C c.2870A>C n.2207A>C c.3792A>C c.1760A>C n.9076A>C c.9060A>C (p.Gly3020=) c.8982A>C (p.Gly2994=) c.6366A>C (p.Gly2122=) c.9084A>C (p.Gly3028=) c.9081A>C (p.Gly3027=) c.9003A>C (p.Gly3001=) c.8988A>C (p.Gly2996=) c.2202A>C (p.Gly734=) c.2181A>C (p.Gly727=) n.9079A>C | |
5 | g.90712307A>G | CA445411766 | ADGRV1 | c.9063A>G (p.Gly3021=) c.265+36098A>G (n.265+36098A>G) n.4522A>G c.2870A>G n.2207A>G c.3792A>G c.1760A>G n.9076A>G c.9060A>G (p.Gly3020=) c.8982A>G (p.Gly2994=) c.6366A>G (p.Gly2122=) c.9084A>G (p.Gly3028=) c.9081A>G (p.Gly3027=) c.9003A>G (p.Gly3001=) c.8988A>G (p.Gly2996=) c.2202A>G (p.Gly734=) c.2181A>G (p.Gly727=) n.9079A>G | gnomAD v4 |
5 | g.90712307A>T | CA445411767 | ADGRV1 | c.9063A>T (p.Gly3021=) c.265+36098A>T (n.265+36098A>T) n.4522A>T c.2870A>T n.2207A>T c.3792A>T c.1760A>T n.9076A>T c.9060A>T (p.Gly3020=) c.8982A>T (p.Gly2994=) c.6366A>T (p.Gly2122=) c.9084A>T (p.Gly3028=) c.9081A>T (p.Gly3027=) c.9003A>T (p.Gly3001=) c.8988A>T (p.Gly2996=) c.2202A>T (p.Gly734=) c.2181A>T (p.Gly727=) n.9079A>T | |
5 | g.90712308G>A | CA360396156 | ADGRV1 | c.9064G>A (p.Glu3022Lys) c.265+36099G>A (n.265+36099G>A) n.4523G>A c.2871G>A n.2208G>A c.3793G>A c.1761G>A n.9077G>A c.9061G>A (p.Glu3021Lys) c.8983G>A (p.Glu2995Lys) c.6367G>A (p.Glu2123Lys) c.9085G>A (p.Glu3029Lys) c.9082G>A (p.Glu3028Lys) c.9004G>A (p.Glu3002Lys) c.8989G>A (p.Glu2997Lys) c.2203G>A (p.Glu735Lys) c.2182G>A (p.Glu728Lys) n.9080G>A | |
5 | g.90712308G>C | CA360396157 | ADGRV1 | c.9064G>C (p.Glu3022Gln) c.265+36099G>C (n.265+36099G>C) n.4523G>C c.2871G>C n.2208G>C c.3793G>C c.1761G>C n.9077G>C c.9061G>C (p.Glu3021Gln) c.8983G>C (p.Glu2995Gln) c.6367G>C (p.Glu2123Gln) c.9085G>C (p.Glu3029Gln) c.9082G>C (p.Glu3028Gln) c.9004G>C (p.Glu3002Gln) c.8989G>C (p.Glu2997Gln) c.2203G>C (p.Glu735Gln) c.2182G>C (p.Glu728Gln) n.9080G>C | gnomAD v4 |
5 | g.90712308G>T | CA360396158 | ADGRV1 | c.9064G>T (p.Glu3022Ter) c.265+36099G>T (n.265+36099G>T) n.4523G>T c.2871G>T n.2208G>T c.3793G>T c.1761G>T n.9077G>T c.9061G>T (p.Glu3021Ter) c.8983G>T (p.Glu2995Ter) c.6367G>T (p.Glu2123Ter) c.9085G>T (p.Glu3029Ter) c.9082G>T (p.Glu3028Ter) c.9004G>T (p.Glu3002Ter) c.8989G>T (p.Glu2997Ter) c.2203G>T (p.Glu735Ter) c.2182G>T (p.Glu728Ter) n.9080G>T | gnomAD v4 |
5 | g.90712309A>C | CA360396159 | ADGRV1 | c.9065A>C (p.Glu3022Ala) c.265+36100A>C (n.265+36100A>C) n.4524A>C c.2872A>C n.2209A>C c.3794A>C c.1762A>C n.9078A>C c.9062A>C (p.Glu3021Ala) c.8984A>C (p.Glu2995Ala) c.6368A>C (p.Glu2123Ala) c.9086A>C (p.Glu3029Ala) c.9083A>C (p.Glu3028Ala) c.9005A>C (p.Glu3002Ala) c.8990A>C (p.Glu2997Ala) c.2204A>C (p.Glu735Ala) c.2183A>C (p.Glu728Ala) n.9081A>C | |
5 | g.90712309A>G | CA360396161 | ADGRV1 | c.9065A>G (p.Glu3022Gly) c.265+36100A>G (n.265+36100A>G) n.4524A>G c.2872A>G n.2209A>G c.3794A>G c.1762A>G n.9078A>G c.9062A>G (p.Glu3021Gly) c.8984A>G (p.Glu2995Gly) c.6368A>G (p.Glu2123Gly) c.9086A>G (p.Glu3029Gly) c.9083A>G (p.Glu3028Gly) c.9005A>G (p.Glu3002Gly) c.8990A>G (p.Glu2997Gly) c.2204A>G (p.Glu735Gly) c.2183A>G (p.Glu728Gly) n.9081A>G | gnomAD v4 |
5 | g.90712309A>T | CA360396160 | ADGRV1 | c.9065A>T (p.Glu3022Val) c.265+36100A>T (n.265+36100A>T) n.4524A>T c.2872A>T n.2209A>T c.3794A>T c.1762A>T n.9078A>T c.9062A>T (p.Glu3021Val) c.8984A>T (p.Glu2995Val) c.6368A>T (p.Glu2123Val) c.9086A>T (p.Glu3029Val) c.9083A>T (p.Glu3028Val) c.9005A>T (p.Glu3002Val) c.8990A>T (p.Glu2997Val) c.2204A>T (p.Glu735Val) c.2183A>T (p.Glu728Val) n.9081A>T | |
5 | g.90712310A>C | CA360396162 | ADGRV1 | c.9066A>C (p.Glu3022Asp) c.265+36101A>C (n.265+36101A>C) n.4525A>C c.2873A>C n.2210A>C c.3795A>C c.1763A>C n.9079A>C c.9063A>C (p.Glu3021Asp) c.8985A>C (p.Glu2995Asp) c.6369A>C (p.Glu2123Asp) c.9087A>C (p.Glu3029Asp) c.9084A>C (p.Glu3028Asp) c.9006A>C (p.Glu3002Asp) c.8991A>C (p.Glu2997Asp) c.2205A>C (p.Glu735Asp) c.2184A>C (p.Glu728Asp) n.9082A>C | |
5 | g.90712310A>G | CA445411775 | ADGRV1 | c.9066A>G (p.Glu3022=) c.265+36101A>G (n.265+36101A>G) n.4525A>G c.2873A>G n.2210A>G c.3795A>G c.1763A>G n.9079A>G c.9063A>G (p.Glu3021=) c.8985A>G (p.Glu2995=) c.6369A>G (p.Glu2123=) c.9087A>G (p.Glu3029=) c.9084A>G (p.Glu3028=) c.9006A>G (p.Glu3002=) c.8991A>G (p.Glu2997=) c.2205A>G (p.Glu735=) c.2184A>G (p.Glu728=) n.9082A>G | |
5 | g.90712310A>T | CA360396163 | ADGRV1 | c.9066A>T (p.Glu3022Asp) c.265+36101A>T (n.265+36101A>T) n.4525A>T c.2873A>T n.2210A>T c.3795A>T c.1763A>T n.9079A>T c.9063A>T (p.Glu3021Asp) c.8985A>T (p.Glu2995Asp) c.6369A>T (p.Glu2123Asp) c.9087A>T (p.Glu3029Asp) c.9084A>T (p.Glu3028Asp) c.9006A>T (p.Glu3002Asp) c.8991A>T (p.Glu2997Asp) c.2205A>T (p.Glu735Asp) c.2184A>T (p.Glu728Asp) n.9082A>T | |
5 | g.90712311A>C | CA445411778 | ADGRV1 | c.9067A>C (p.Arg3023=) c.265+36102A>C (n.265+36102A>C) n.4526A>C c.2874A>C n.2211A>C c.3796A>C c.1764A>C n.9080A>C c.9064A>C (p.Arg3022=) c.8986A>C (p.Arg2996=) c.6370A>C (p.Arg2124=) c.9088A>C (p.Arg3030=) c.9085A>C (p.Arg3029=) c.9007A>C (p.Arg3003=) c.8992A>C (p.Arg2998=) c.2206A>C (p.Arg736=) c.2185A>C (p.Arg729=) n.9083A>C | |
5 | g.90712311A>G | CA360396164 | ADGRV1 | c.9067A>G (p.Arg3023Gly) c.265+36102A>G (n.265+36102A>G) n.4526A>G c.2874A>G n.2211A>G c.3796A>G c.1764A>G n.9080A>G c.9064A>G (p.Arg3022Gly) c.8986A>G (p.Arg2996Gly) c.6370A>G (p.Arg2124Gly) c.9088A>G (p.Arg3030Gly) c.9085A>G (p.Arg3029Gly) c.9007A>G (p.Arg3003Gly) c.8992A>G (p.Arg2998Gly) c.2206A>G (p.Arg736Gly) c.2185A>G (p.Arg729Gly) n.9083A>G | |
5 | g.90712311A>T | CA360396165 | ADGRV1 | c.9067A>T (p.Arg3023Trp) c.265+36102A>T (n.265+36102A>T) n.4526A>T c.2874A>T n.2211A>T c.3796A>T c.1764A>T n.9080A>T c.9064A>T (p.Arg3022Trp) c.8986A>T (p.Arg2996Trp) c.6370A>T (p.Arg2124Trp) c.9088A>T (p.Arg3030Trp) c.9085A>T (p.Arg3029Trp) c.9007A>T (p.Arg3003Trp) c.8992A>T (p.Arg2998Trp) c.2206A>T (p.Arg736Trp) c.2185A>T (p.Arg729Trp) n.9083A>T | gnomAD v4 |
5 | g.90712312G>A | CA360396166 | ADGRV1 | c.9068G>A (p.Arg3023Lys) c.265+36103G>A (n.265+36103G>A) n.4527G>A c.2875G>A n.2212G>A c.3797G>A c.1765G>A n.9081G>A c.9065G>A (p.Arg3022Lys) c.8987G>A (p.Arg2996Lys) c.6371G>A (p.Arg2124Lys) c.9089G>A (p.Arg3030Lys) c.9086G>A (p.Arg3029Lys) c.9008G>A (p.Arg3003Lys) c.8993G>A (p.Arg2998Lys) c.2207G>A (p.Arg736Lys) c.2186G>A (p.Arg729Lys) n.9084G>A | gnomAD v4 COSMIC |
5 | g.90712312G>C | CA360396167 | ADGRV1 | c.9068G>C (p.Arg3023Thr) c.265+36103G>C (n.265+36103G>C) n.4527G>C c.2875G>C n.2212G>C c.3797G>C c.1765G>C n.9081G>C c.9065G>C (p.Arg3022Thr) c.8987G>C (p.Arg2996Thr) c.6371G>C (p.Arg2124Thr) c.9089G>C (p.Arg3030Thr) c.9086G>C (p.Arg3029Thr) c.9008G>C (p.Arg3003Thr) c.8993G>C (p.Arg2998Thr) c.2207G>C (p.Arg736Thr) c.2186G>C (p.Arg729Thr) n.9084G>C | |
5 | g.90712312G= | CA1562867526 | ADGRV1 | c.9068G= (p.Arg3023=) c.265+36103G= (n.265+36103G=) n.4527G= c.2875G= n.2212G= c.3797G= c.1765G= n.9081G= c.9065G= (p.Arg3022=) c.8987G= (p.Arg2996=) c.6371G= (p.Arg2124=) c.9089G= (p.Arg3030=) c.9086G= (p.Arg3029=) c.9008G= (p.Arg3003=) c.8993G= (p.Arg2998=) c.2207G= (p.Arg736=) c.2186G= (p.Arg729=) n.9084G= | |
5 | g.90712312G>T | CA360396168 | ADGRV1 | c.9068G>T (p.Arg3023Met) c.265+36103G>T (n.265+36103G>T) n.4527G>T c.2875G>T n.2212G>T c.3797G>T c.1765G>T n.9081G>T c.9065G>T (p.Arg3022Met) c.8987G>T (p.Arg2996Met) c.6371G>T (p.Arg2124Met) c.9089G>T (p.Arg3030Met) c.9086G>T (p.Arg3029Met) c.9008G>T (p.Arg3003Met) c.8993G>T (p.Arg2998Met) c.2207G>T (p.Arg736Met) c.2186G>T (p.Arg729Met) n.9084G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.90712313G>A | CA445411785 | ADGRV1 | c.9069G>A (p.Arg3023=) c.265+36104G>A (n.265+36104G>A) n.4528G>A c.2876G>A n.2213G>A c.3798G>A c.1766G>A n.9082G>A c.9066G>A (p.Arg3022=) c.8988G>A (p.Arg2996=) c.6372G>A (p.Arg2124=) c.9090G>A (p.Arg3030=) c.9087G>A (p.Arg3029=) c.9009G>A (p.Arg3003=) c.8994G>A (p.Arg2998=) c.2208G>A (p.Arg736=) c.2187G>A (p.Arg729=) n.9085G>A | gnomAD v4 |
5 | g.90712313G>C | CA3340439 | ADGRV1 | c.9069G>C (p.Arg3023Ser) c.265+36104G>C (n.265+36104G>C) n.4528G>C c.2876G>C n.2213G>C c.3798G>C c.1766G>C n.9082G>C c.9066G>C (p.Arg3022Ser) c.8988G>C (p.Arg2996Ser) c.6372G>C (p.Arg2124Ser) c.9090G>C (p.Arg3030Ser) c.9087G>C (p.Arg3029Ser) c.9009G>C (p.Arg3003Ser) c.8994G>C (p.Arg2998Ser) c.2208G>C (p.Arg736Ser) c.2187G>C (p.Arg729Ser) n.9085G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90712313G= | CA1562867527 | ADGRV1 | c.9069G= (p.Arg3023=) c.265+36104G= (n.265+36104G=) n.4528G= c.2876G= n.2213G= c.3798G= c.1766G= n.9082G= c.9066G= (p.Arg3022=) c.8988G= (p.Arg2996=) c.6372G= (p.Arg2124=) c.9090G= (p.Arg3030=) c.9087G= (p.Arg3029=) c.9009G= (p.Arg3003=) c.8994G= (p.Arg2998=) c.2208G= (p.Arg736=) c.2187G= (p.Arg729=) n.9085G= | |
5 | g.90712313G>T | CA360396169 | ADGRV1 | c.9069G>T (p.Arg3023Ser) c.265+36104G>T (n.265+36104G>T) n.4528G>T c.2876G>T n.2213G>T c.3798G>T c.1766G>T n.9082G>T c.9066G>T (p.Arg3022Ser) c.8988G>T (p.Arg2996Ser) c.6372G>T (p.Arg2124Ser) c.9090G>T (p.Arg3030Ser) c.9087G>T (p.Arg3029Ser) c.9009G>T (p.Arg3003Ser) c.8994G>T (p.Arg2998Ser) c.2208G>T (p.Arg736Ser) c.2187G>T (p.Arg729Ser) n.9085G>T | gnomAD v4 |
5 | g.90712314T>A | CA360396170 | ADGRV1 | c.9070T>A (p.Tyr3024Asn) c.265+36105T>A (n.265+36105T>A) n.4529T>A c.2877T>A n.2214T>A c.3799T>A c.1767T>A n.9083T>A c.9067T>A (p.Tyr3023Asn) c.8989T>A (p.Tyr2997Asn) c.6373T>A (p.Tyr2125Asn) c.9091T>A (p.Tyr3031Asn) c.9088T>A (p.Tyr3030Asn) c.9010T>A (p.Tyr3004Asn) c.8995T>A (p.Tyr2999Asn) c.2209T>A (p.Tyr737Asn) c.2188T>A (p.Tyr730Asn) n.9086T>A | |
5 | g.90712314T>C | CA360396171 | ADGRV1 | c.9070T>C (p.Tyr3024His) c.265+36105T>C (n.265+36105T>C) n.4529T>C c.2877T>C n.2214T>C c.3799T>C c.1767T>C n.9083T>C c.9067T>C (p.Tyr3023His) c.8989T>C (p.Tyr2997His) c.6373T>C (p.Tyr2125His) c.9091T>C (p.Tyr3031His) c.9088T>C (p.Tyr3030His) c.9010T>C (p.Tyr3004His) c.8995T>C (p.Tyr2999His) c.2209T>C (p.Tyr737His) c.2188T>C (p.Tyr730His) n.9086T>C | gnomAD v4 |
5 | g.90712314T>G | CA360396172 | ADGRV1 | c.9070T>G (p.Tyr3024Asp) c.265+36105T>G (n.265+36105T>G) n.4529T>G c.2877T>G n.2214T>G c.3799T>G c.1767T>G n.9083T>G c.9067T>G (p.Tyr3023Asp) c.8989T>G (p.Tyr2997Asp) c.6373T>G (p.Tyr2125Asp) c.9091T>G (p.Tyr3031Asp) c.9088T>G (p.Tyr3030Asp) c.9010T>G (p.Tyr3004Asp) c.8995T>G (p.Tyr2999Asp) c.2209T>G (p.Tyr737Asp) c.2188T>G (p.Tyr730Asp) n.9086T>G | |
5 | g.90712315A= | CA1562867528 | ADGRV1 | c.9071A= (p.Tyr3024=) c.265+36106A= (n.265+36106A=) n.4530A= c.2878A= n.2215A= c.3800A= c.1768A= n.9084A= c.9068A= (p.Tyr3023=) c.8990A= (p.Tyr2997=) c.6374A= (p.Tyr2125=) c.9092A= (p.Tyr3031=) c.9089A= (p.Tyr3030=) c.9011A= (p.Tyr3004=) c.8996A= (p.Tyr2999=) c.2210A= (p.Tyr737=) c.2189A= (p.Tyr730=) n.9087A= | |
5 | g.90712315A>C | CA360396174 | ADGRV1 | c.9071A>C (p.Tyr3024Ser) c.265+36106A>C (n.265+36106A>C) n.4530A>C c.2878A>C n.2215A>C c.3800A>C c.1768A>C n.9084A>C c.9068A>C (p.Tyr3023Ser) c.8990A>C (p.Tyr2997Ser) c.6374A>C (p.Tyr2125Ser) c.9092A>C (p.Tyr3031Ser) c.9089A>C (p.Tyr3030Ser) c.9011A>C (p.Tyr3004Ser) c.8996A>C (p.Tyr2999Ser) c.2210A>C (p.Tyr737Ser) c.2189A>C (p.Tyr730Ser) n.9087A>C | |
5 | g.90712315A>G | CA360396173 | ADGRV1 | c.9071A>G (p.Tyr3024Cys) c.265+36106A>G (n.265+36106A>G) n.4530A>G c.2878A>G n.2215A>G c.3800A>G c.1768A>G n.9084A>G c.9068A>G (p.Tyr3023Cys) c.8990A>G (p.Tyr2997Cys) c.6374A>G (p.Tyr2125Cys) c.9092A>G (p.Tyr3031Cys) c.9089A>G (p.Tyr3030Cys) c.9011A>G (p.Tyr3004Cys) c.8996A>G (p.Tyr2999Cys) c.2210A>G (p.Tyr737Cys) c.2189A>G (p.Tyr730Cys) n.9087A>G | gnomAD v4 COSMIC |
5 | g.90712315A>T | CA3340440 | ADGRV1 | c.9071A>T (p.Tyr3024Phe) c.265+36106A>T (n.265+36106A>T) n.4530A>T c.2878A>T n.2215A>T c.3800A>T c.1768A>T n.9084A>T c.9068A>T (p.Tyr3023Phe) c.8990A>T (p.Tyr2997Phe) c.6374A>T (p.Tyr2125Phe) c.9092A>T (p.Tyr3031Phe) c.9089A>T (p.Tyr3030Phe) c.9011A>T (p.Tyr3004Phe) c.8996A>T (p.Tyr2999Phe) c.2210A>T (p.Tyr737Phe) c.2189A>T (p.Tyr730Phe) n.9087A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90712316T>A | CA360396175 | ADGRV1 | c.9072T>A (p.Tyr3024Ter) c.265+36107T>A (n.265+36107T>A) n.4531T>A c.2879T>A n.2216T>A c.3801T>A c.1769T>A n.9085T>A c.9069T>A (p.Tyr3023Ter) c.8991T>A (p.Tyr2997Ter) c.6375T>A (p.Tyr2125Ter) c.9093T>A (p.Tyr3031Ter) c.9090T>A (p.Tyr3030Ter) c.9012T>A (p.Tyr3004Ter) c.8997T>A (p.Tyr2999Ter) c.2211T>A (p.Tyr737Ter) c.2190T>A (p.Tyr730Ter) n.9088T>A | gnomAD v4 |
5 | g.90712316T>C | CA3340441 | ADGRV1 | c.9072T>C (p.Tyr3024=) c.265+36107T>C (n.265+36107T>C) n.4531T>C c.2879T>C n.2216T>C c.3801T>C c.1769T>C n.9085T>C c.9069T>C (p.Tyr3023=) c.8991T>C (p.Tyr2997=) c.6375T>C (p.Tyr2125=) c.9093T>C (p.Tyr3031=) c.9090T>C (p.Tyr3030=) c.9012T>C (p.Tyr3004=) c.8997T>C (p.Tyr2999=) c.2211T>C (p.Tyr737=) c.2190T>C (p.Tyr730=) n.9088T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90712316T>G | CA360396176 | ADGRV1 | c.9072T>G (p.Tyr3024Ter) c.265+36107T>G (n.265+36107T>G) n.4531T>G c.2879T>G n.2216T>G c.3801T>G c.1769T>G n.9085T>G c.9069T>G (p.Tyr3023Ter) c.8991T>G (p.Tyr2997Ter) c.6375T>G (p.Tyr2125Ter) c.9093T>G (p.Tyr3031Ter) c.9090T>G (p.Tyr3030Ter) c.9012T>G (p.Tyr3004Ter) c.8997T>G (p.Tyr2999Ter) c.2211T>G (p.Tyr737Ter) c.2190T>G (p.Tyr730Ter) n.9088T>G | |
5 | g.90712316T= | CA1562867529 | ADGRV1 | c.9072T= (p.Tyr3024=) c.265+36107T= (n.265+36107T=) n.4531T= c.2879T= n.2216T= c.3801T= c.1769T= n.9085T= c.9069T= (p.Tyr3023=) c.8991T= (p.Tyr2997=) c.6375T= (p.Tyr2125=) c.9093T= (p.Tyr3031=) c.9090T= (p.Tyr3030=) c.9012T= (p.Tyr3004=) c.8997T= (p.Tyr2999=) c.2211T= (p.Tyr737=) c.2190T= (p.Tyr730=) n.9088T= | |
5 | g.90712317A>C | CA360396177 | ADGRV1 | c.9073A>C (p.Lys3025Gln) c.265+36108A>C (n.265+36108A>C) n.4532A>C c.2880A>C n.2217A>C c.3802A>C c.1770A>C n.9086A>C c.9070A>C (p.Lys3024Gln) c.8992A>C (p.Lys2998Gln) c.6376A>C (p.Lys2126Gln) c.9094A>C (p.Lys3032Gln) c.9091A>C (p.Lys3031Gln) c.9013A>C (p.Lys3005Gln) c.8998A>C (p.Lys3000Gln) c.2212A>C (p.Lys738Gln) c.2191A>C (p.Lys731Gln) n.9089A>C | |
5 | g.90712317A>G | CA360396178 | ADGRV1 | c.9073A>G (p.Lys3025Glu) c.265+36108A>G (n.265+36108A>G) n.4532A>G c.2880A>G n.2217A>G c.3802A>G c.1770A>G n.9086A>G c.9070A>G (p.Lys3024Glu) c.8992A>G (p.Lys2998Glu) c.6376A>G (p.Lys2126Glu) c.9094A>G (p.Lys3032Glu) c.9091A>G (p.Lys3031Glu) c.9013A>G (p.Lys3005Glu) c.8998A>G (p.Lys3000Glu) c.2212A>G (p.Lys738Glu) c.2191A>G (p.Lys731Glu) n.9089A>G | gnomAD v4 |
5 | g.90712317A>T | CA360396179 | ADGRV1 | c.9073A>T (p.Lys3025Ter) c.265+36108A>T (n.265+36108A>T) n.4532A>T c.2880A>T n.2217A>T c.3802A>T c.1770A>T n.9086A>T c.9070A>T (p.Lys3024Ter) c.8992A>T (p.Lys2998Ter) c.6376A>T (p.Lys2126Ter) c.9094A>T (p.Lys3032Ter) c.9091A>T (p.Lys3031Ter) c.9013A>T (p.Lys3005Ter) c.8998A>T (p.Lys3000Ter) c.2212A>T (p.Lys738Ter) c.2191A>T (p.Lys731Ter) n.9089A>T | |
5 | g.90712318A>C | CA360396180 | ADGRV1 | c.9074A>C (p.Lys3025Thr) c.265+36109A>C (n.265+36109A>C) n.4533A>C c.2881A>C n.2218A>C c.3803A>C c.1771A>C n.9087A>C c.9071A>C (p.Lys3024Thr) c.8993A>C (p.Lys2998Thr) c.6377A>C (p.Lys2126Thr) c.9095A>C (p.Lys3032Thr) c.9092A>C (p.Lys3031Thr) c.9014A>C (p.Lys3005Thr) c.8999A>C (p.Lys3000Thr) c.2213A>C (p.Lys738Thr) c.2192A>C (p.Lys731Thr) n.9090A>C | ClinVar |
5 | g.90712318A>G | CA360396181 | ADGRV1 | c.9074A>G (p.Lys3025Arg) c.265+36109A>G (n.265+36109A>G) n.4533A>G c.2881A>G n.2218A>G c.3803A>G c.1771A>G n.9087A>G c.9071A>G (p.Lys3024Arg) c.8993A>G (p.Lys2998Arg) c.6377A>G (p.Lys2126Arg) c.9095A>G (p.Lys3032Arg) c.9092A>G (p.Lys3031Arg) c.9014A>G (p.Lys3005Arg) c.8999A>G (p.Lys3000Arg) c.2213A>G (p.Lys738Arg) c.2192A>G (p.Lys731Arg) n.9090A>G | |
5 | g.90712318A>T | CA360396182 | ADGRV1 | c.9074A>T (p.Lys3025Ile) c.265+36109A>T (n.265+36109A>T) n.4533A>T c.2881A>T n.2218A>T c.3803A>T c.1771A>T n.9087A>T c.9071A>T (p.Lys3024Ile) c.8993A>T (p.Lys2998Ile) c.6377A>T (p.Lys2126Ile) c.9095A>T (p.Lys3032Ile) c.9092A>T (p.Lys3031Ile) c.9014A>T (p.Lys3005Ile) c.8999A>T (p.Lys3000Ile) c.2213A>T (p.Lys738Ile) c.2192A>T (p.Lys731Ile) n.9090A>T | |
5 | g.90712319A>C | CA360396183 | ADGRV1 | c.9075A>C (p.Lys3025Asn) c.265+36110A>C (n.265+36110A>C) n.4534A>C c.2882A>C n.2219A>C c.3804A>C c.1772A>C n.9088A>C c.9072A>C (p.Lys3024Asn) c.8994A>C (p.Lys2998Asn) c.6378A>C (p.Lys2126Asn) c.9096A>C (p.Lys3032Asn) c.9093A>C (p.Lys3031Asn) c.9015A>C (p.Lys3005Asn) c.9000A>C (p.Lys3000Asn) c.2214A>C (p.Lys738Asn) c.2193A>C (p.Lys731Asn) n.9091A>C | |
5 | g.90712319A>G | CA445411799 | ADGRV1 | c.9075A>G (p.Lys3025=) c.265+36110A>G (n.265+36110A>G) n.4534A>G c.2882A>G n.2219A>G c.3804A>G c.1772A>G n.9088A>G c.9072A>G (p.Lys3024=) c.8994A>G (p.Lys2998=) c.6378A>G (p.Lys2126=) c.9096A>G (p.Lys3032=) c.9093A>G (p.Lys3031=) c.9015A>G (p.Lys3005=) c.9000A>G (p.Lys3000=) c.2214A>G (p.Lys738=) c.2193A>G (p.Lys731=) n.9091A>G | |
5 | g.90712319A>T | CA360396184 | ADGRV1 | c.9075A>T (p.Lys3025Asn) c.265+36110A>T (n.265+36110A>T) n.4534A>T c.2882A>T n.2219A>T c.3804A>T c.1772A>T n.9088A>T c.9072A>T (p.Lys3024Asn) c.8994A>T (p.Lys2998Asn) c.6378A>T (p.Lys2126Asn) c.9096A>T (p.Lys3032Asn) c.9093A>T (p.Lys3031Asn) c.9015A>T (p.Lys3005Asn) c.9000A>T (p.Lys3000Asn) c.2214A>T (p.Lys738Asn) c.2193A>T (p.Lys731Asn) n.9091A>T | |
5 | g.90712320A= | CA1562867530 | ADGRV1 | c.9076A= (p.Asn3026=) c.265+36111A= (n.265+36111A=) n.4535A= c.2883A= n.2220A= c.3805A= c.1773A= n.9089A= c.9073A= (p.Asn3025=) c.8995A= (p.Asn2999=) c.6379A= (p.Asn2127=) c.9097A= (p.Asn3033=) c.9094A= (p.Asn3032=) c.9016A= (p.Asn3006=) c.9001A= (p.Asn3001=) c.2215A= (p.Asn739=) c.2194A= (p.Asn732=) n.9092A= | |
5 | g.90712320A>C | CA360396187 | ADGRV1 | c.9076A>C (p.Asn3026His) c.265+36111A>C (n.265+36111A>C) n.4535A>C c.2883A>C n.2220A>C c.3805A>C c.1773A>C n.9089A>C c.9073A>C (p.Asn3025His) c.8995A>C (p.Asn2999His) c.6379A>C (p.Asn2127His) c.9097A>C (p.Asn3033His) c.9094A>C (p.Asn3032His) c.9016A>C (p.Asn3006His) c.9001A>C (p.Asn3001His) c.2215A>C (p.Asn739His) c.2194A>C (p.Asn732His) n.9092A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.90712320A>G | CA360396186 | ADGRV1 | c.9076A>G (p.Asn3026Asp) c.265+36111A>G (n.265+36111A>G) n.4535A>G c.2883A>G n.2220A>G c.3805A>G c.1773A>G n.9089A>G c.9073A>G (p.Asn3025Asp) c.8995A>G (p.Asn2999Asp) c.6379A>G (p.Asn2127Asp) c.9097A>G (p.Asn3033Asp) c.9094A>G (p.Asn3032Asp) c.9016A>G (p.Asn3006Asp) c.9001A>G (p.Asn3001Asp) c.2215A>G (p.Asn739Asp) c.2194A>G (p.Asn732Asp) n.9092A>G | |
5 | g.90712320A>T | CA360396185 | ADGRV1 | c.9076A>T (p.Asn3026Tyr) c.265+36111A>T (n.265+36111A>T) n.4535A>T c.2883A>T n.2220A>T c.3805A>T c.1773A>T n.9089A>T c.9073A>T (p.Asn3025Tyr) c.8995A>T (p.Asn2999Tyr) c.6379A>T (p.Asn2127Tyr) c.9097A>T (p.Asn3033Tyr) c.9094A>T (p.Asn3032Tyr) c.9016A>T (p.Asn3006Tyr) c.9001A>T (p.Asn3001Tyr) c.2215A>T (p.Asn739Tyr) c.2194A>T (p.Asn732Tyr) n.9092A>T | |
5 | g.90712321A= | CA1562867531 | ADGRV1 | c.9077A= (p.Asn3026=) c.265+36112A= (n.265+36112A=) n.4536A= c.2884A= n.2221A= c.3806A= c.1774A= n.9090A= c.9074A= (p.Asn3025=) c.8996A= (p.Asn2999=) c.6380A= (p.Asn2127=) c.9098A= (p.Asn3033=) c.9095A= (p.Asn3032=) c.9017A= (p.Asn3006=) c.9002A= (p.Asn3001=) c.2216A= (p.Asn739=) c.2195A= (p.Asn732=) n.9093A= | |
5 | g.90712321A>C | CA360396188 | ADGRV1 | c.9077A>C (p.Asn3026Thr) c.265+36112A>C (n.265+36112A>C) n.4536A>C c.2884A>C n.2221A>C c.3806A>C c.1774A>C n.9090A>C c.9074A>C (p.Asn3025Thr) c.8996A>C (p.Asn2999Thr) c.6380A>C (p.Asn2127Thr) c.9098A>C (p.Asn3033Thr) c.9095A>C (p.Asn3032Thr) c.9017A>C (p.Asn3006Thr) c.9002A>C (p.Asn3001Thr) c.2216A>C (p.Asn739Thr) c.2195A>C (p.Asn732Thr) n.9093A>C | gnomAD v4 |
5 | g.90712321A>G | CA360396189 | ADGRV1 | c.9077A>G (p.Asn3026Ser) c.265+36112A>G (n.265+36112A>G) n.4536A>G c.2884A>G n.2221A>G c.3806A>G c.1774A>G n.9090A>G c.9074A>G (p.Asn3025Ser) c.8996A>G (p.Asn2999Ser) c.6380A>G (p.Asn2127Ser) c.9098A>G (p.Asn3033Ser) c.9095A>G (p.Asn3032Ser) c.9017A>G (p.Asn3006Ser) c.9002A>G (p.Asn3001Ser) c.2216A>G (p.Asn739Ser) c.2195A>G (p.Asn732Ser) n.9093A>G | |
5 | g.90712321A>T | CA3340442 | ADGRV1 | c.9077A>T (p.Asn3026Ile) c.265+36112A>T (n.265+36112A>T) n.4536A>T c.2884A>T n.2221A>T c.3806A>T c.1774A>T n.9090A>T c.9074A>T (p.Asn3025Ile) c.8996A>T (p.Asn2999Ile) c.6380A>T (p.Asn2127Ile) c.9098A>T (p.Asn3033Ile) c.9095A>T (p.Asn3032Ile) c.9017A>T (p.Asn3006Ile) c.9002A>T (p.Asn3001Ile) c.2216A>T (p.Asn739Ile) c.2195A>T (p.Asn732Ile) n.9093A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90712322T>A | CA360396190 | ADGRV1 | c.9078T>A (p.Asn3026Lys) c.265+36113T>A (n.265+36113T>A) n.4537T>A c.2885T>A n.2222T>A c.3807T>A c.1775T>A n.9091T>A c.9075T>A (p.Asn3025Lys) c.8997T>A (p.Asn2999Lys) c.6381T>A (p.Asn2127Lys) c.9099T>A (p.Asn3033Lys) c.9096T>A (p.Asn3032Lys) c.9018T>A (p.Asn3006Lys) c.9003T>A (p.Asn3001Lys) c.2217T>A (p.Asn739Lys) c.2196T>A (p.Asn732Lys) n.9094T>A | |
5 | g.90712322T>C | CA445411818 | ADGRV1 | c.9078T>C (p.Asn3026=) c.265+36113T>C (n.265+36113T>C) n.4537T>C c.2885T>C n.2222T>C c.3807T>C c.1775T>C n.9091T>C c.9075T>C (p.Asn3025=) c.8997T>C (p.Asn2999=) c.6381T>C (p.Asn2127=) c.9099T>C (p.Asn3033=) c.9096T>C (p.Asn3032=) c.9018T>C (p.Asn3006=) c.9003T>C (p.Asn3001=) c.2217T>C (p.Asn739=) c.2196T>C (p.Asn732=) n.9094T>C | |
5 | g.90712322T>G | CA360396191 | ADGRV1 | c.9078T>G (p.Asn3026Lys) c.265+36113T>G (n.265+36113T>G) n.4537T>G c.2885T>G n.2222T>G c.3807T>G c.1775T>G n.9091T>G c.9075T>G (p.Asn3025Lys) c.8997T>G (p.Asn2999Lys) c.6381T>G (p.Asn2127Lys) c.9099T>G (p.Asn3033Lys) c.9096T>G (p.Asn3032Lys) c.9018T>G (p.Asn3006Lys) c.9003T>G (p.Asn3001Lys) c.2217T>G (p.Asn739Lys) c.2196T>G (p.Asn732Lys) n.9094T>G | |
5 | g.90712322_90712324del | CA2564146851 | ADGRV1 | c.9078_9080del (p.Val3027del) c.265+36113_265+36115del (n.265+36113_265+36115del) n.4537_4539del c.2885_2887del n.2222_2224del c.3807_3809del c.1775_1777del n.9091_9093del c.9075_9077del (p.Val3026del) c.8997_8999del (p.Val3000del) c.6381_6383del (p.Val2128del) c.9099_9101del (p.Val3034del) c.9096_9098del (p.Val3033del) c.9018_9020del (p.Val3007del) c.9003_9005del (p.Val3002del) c.2217_2219del (p.Val740del) c.2196_2198del (p.Val733del) n.9094_9096del | |
5 | g.90712323G>A | CA360396192 | ADGRV1 | c.9079G>A (p.Val3027Ile) c.265+36114G>A (n.265+36114G>A) n.4538G>A c.2886G>A n.2223G>A c.3808G>A c.1776G>A n.9092G>A c.9076G>A (p.Val3026Ile) c.8998G>A (p.Val3000Ile) c.6382G>A (p.Val2128Ile) c.9100G>A (p.Val3034Ile) c.9097G>A (p.Val3033Ile) c.9019G>A (p.Val3007Ile) c.9004G>A (p.Val3002Ile) c.2218G>A (p.Val740Ile) c.2197G>A (p.Val733Ile) n.9095G>A | gnomAD v4 |
5 | g.90712323G>C | CA360396193 | ADGRV1 | c.9079G>C (p.Val3027Leu) c.265+36114G>C (n.265+36114G>C) n.4538G>C c.2886G>C n.2223G>C c.3808G>C c.1776G>C n.9092G>C c.9076G>C (p.Val3026Leu) c.8998G>C (p.Val3000Leu) c.6382G>C (p.Val2128Leu) c.9100G>C (p.Val3034Leu) c.9097G>C (p.Val3033Leu) c.9019G>C (p.Val3007Leu) c.9004G>C (p.Val3002Leu) c.2218G>C (p.Val740Leu) c.2197G>C (p.Val733Leu) n.9095G>C | |
5 | g.90712323G>T | CA360396194 | ADGRV1 | c.9079G>T (p.Val3027Phe) c.265+36114G>T (n.265+36114G>T) n.4538G>T c.2886G>T n.2223G>T c.3808G>T c.1776G>T n.9092G>T c.9076G>T (p.Val3026Phe) c.8998G>T (p.Val3000Phe) c.6382G>T (p.Val2128Phe) c.9100G>T (p.Val3034Phe) c.9097G>T (p.Val3033Phe) c.9019G>T (p.Val3007Phe) c.9004G>T (p.Val3002Phe) c.2218G>T (p.Val740Phe) c.2197G>T (p.Val733Phe) n.9095G>T | |
5 | g.90712324T>A | CA360396195 | ADGRV1 | c.9080T>A (p.Val3027Asp) c.265+36115T>A (n.265+36115T>A) n.4539T>A c.2887T>A n.2224T>A c.3809T>A c.1777T>A n.9093T>A c.9077T>A (p.Val3026Asp) c.8999T>A (p.Val3000Asp) c.6383T>A (p.Val2128Asp) c.9101T>A (p.Val3034Asp) c.9098T>A (p.Val3033Asp) c.9020T>A (p.Val3007Asp) c.9005T>A (p.Val3002Asp) c.2219T>A (p.Val740Asp) c.2198T>A (p.Val733Asp) n.9096T>A | |
5 | g.90712324T>C | CA360396196 | ADGRV1 | c.9080T>C (p.Val3027Ala) c.265+36115T>C (n.265+36115T>C) n.4539T>C c.2887T>C n.2224T>C c.3809T>C c.1777T>C n.9093T>C c.9077T>C (p.Val3026Ala) c.8999T>C (p.Val3000Ala) c.6383T>C (p.Val2128Ala) c.9101T>C (p.Val3034Ala) c.9098T>C (p.Val3033Ala) c.9020T>C (p.Val3007Ala) c.9005T>C (p.Val3002Ala) c.2219T>C (p.Val740Ala) c.2198T>C (p.Val733Ala) n.9096T>C | |
5 | g.90712324T>G | CA360396197 | ADGRV1 | c.9080T>G (p.Val3027Gly) c.265+36115T>G (n.265+36115T>G) n.4539T>G c.2887T>G n.2224T>G c.3809T>G c.1777T>G n.9093T>G c.9077T>G (p.Val3026Gly) c.8999T>G (p.Val3000Gly) c.6383T>G (p.Val2128Gly) c.9101T>G (p.Val3034Gly) c.9098T>G (p.Val3033Gly) c.9020T>G (p.Val3007Gly) c.9005T>G (p.Val3002Gly) c.2219T>G (p.Val740Gly) c.2198T>G (p.Val733Gly) n.9096T>G | gnomAD v4 |
5 | g.90712327_90712332del | CA2674570067 | ADGRV1 | c.9083_9088del (p.Asn3028_Ile3029del) c.265+36118_265+36123del (n.265+36118_265+36123del) n.4542_4547del c.2890_2895del n.2227_2232del c.3812_3817del c.1780_1785del n.9096_9101del c.9080_9085del (p.Asn3027_Ile3028del) c.9002_9007del (p.Asn3001_Ile3002del) c.6386_6391del (p.Asn2129_Ile2130del) c.9104_9109del (p.Asn3035_Ile3036del) c.9101_9106del (p.Asn3034_Ile3035del) c.9023_9028del (p.Asn3008_Ile3009del) c.9008_9013del (p.Asn3003_Ile3004del) c.2222_2227del (p.Asn741_Ile742del) c.2201_2206del (p.Asn734_Ile735del) n.9099_9104del | gnomAD v4 |
5 | g.90712325C>A | CA445411824 | ADGRV1 | c.9081C>A (p.Val3027=) c.265+36116C>A (n.265+36116C>A) n.4540C>A c.2888C>A n.2225C>A c.3810C>A c.1778C>A n.9094C>A c.9078C>A (p.Val3026=) c.9000C>A (p.Val3000=) c.6384C>A (p.Val2128=) c.9102C>A (p.Val3034=) c.9099C>A (p.Val3033=) c.9021C>A (p.Val3007=) c.9006C>A (p.Val3002=) c.2220C>A (p.Val740=) c.2199C>A (p.Val733=) n.9097C>A | gnomAD v4 |
5 | g.90712325C>G | CA445411827 | ADGRV1 | c.9081C>G (p.Val3027=) c.265+36116C>G (n.265+36116C>G) n.4540C>G c.2888C>G n.2225C>G c.3810C>G c.1778C>G n.9094C>G c.9078C>G (p.Val3026=) c.9000C>G (p.Val3000=) c.6384C>G (p.Val2128=) c.9102C>G (p.Val3034=) c.9099C>G (p.Val3033=) c.9021C>G (p.Val3007=) c.9006C>G (p.Val3002=) c.2220C>G (p.Val740=) c.2199C>G (p.Val733=) n.9097C>G | |
5 | g.90712325C>T | CA445411825 | ADGRV1 | c.9081C>T (p.Val3027=) c.265+36116C>T (n.265+36116C>T) n.4540C>T c.2888C>T n.2225C>T c.3810C>T c.1778C>T n.9094C>T c.9078C>T (p.Val3026=) c.9000C>T (p.Val3000=) c.6384C>T (p.Val2128=) c.9102C>T (p.Val3034=) c.9099C>T (p.Val3033=) c.9021C>T (p.Val3007=) c.9006C>T (p.Val3002=) c.2220C>T (p.Val740=) c.2199C>T (p.Val733=) n.9097C>T | gnomAD v4 |
5 | g.90712326A>C | CA360396198 | ADGRV1 | c.9082A>C (p.Asn3028His) c.265+36117A>C (n.265+36117A>C) n.4541A>C c.2889A>C n.2226A>C c.3811A>C c.1779A>C n.9095A>C c.9079A>C (p.Asn3027His) c.9001A>C (p.Asn3001His) c.6385A>C (p.Asn2129His) c.9103A>C (p.Asn3035His) c.9100A>C (p.Asn3034His) c.9022A>C (p.Asn3008His) c.9007A>C (p.Asn3003His) c.2221A>C (p.Asn741His) c.2200A>C (p.Asn734His) n.9098A>C | |
5 | g.90712326A>G | CA360396199 | ADGRV1 | c.9082A>G (p.Asn3028Asp) c.265+36117A>G (n.265+36117A>G) n.4541A>G c.2889A>G n.2226A>G c.3811A>G c.1779A>G n.9095A>G c.9079A>G (p.Asn3027Asp) c.9001A>G (p.Asn3001Asp) c.6385A>G (p.Asn2129Asp) c.9103A>G (p.Asn3035Asp) c.9100A>G (p.Asn3034Asp) c.9022A>G (p.Asn3008Asp) c.9007A>G (p.Asn3003Asp) c.2221A>G (p.Asn741Asp) c.2200A>G (p.Asn734Asp) n.9098A>G | |
5 | g.90712326A>T | CA360396200 | ADGRV1 | c.9082A>T (p.Asn3028Tyr) c.265+36117A>T (n.265+36117A>T) n.4541A>T c.2889A>T n.2226A>T c.3811A>T c.1779A>T n.9095A>T c.9079A>T (p.Asn3027Tyr) c.9001A>T (p.Asn3001Tyr) c.6385A>T (p.Asn2129Tyr) c.9103A>T (p.Asn3035Tyr) c.9100A>T (p.Asn3034Tyr) c.9022A>T (p.Asn3008Tyr) c.9007A>T (p.Asn3003Tyr) c.2221A>T (p.Asn741Tyr) c.2200A>T (p.Asn734Tyr) n.9098A>T | |
5 | g.90712326_90712327insTTG | CA2535339681 | ADGRV1 | c.9082_9083insTTG (p.Asn3028delinsIleAsp) c.265+36117_265+36118insTTG (n.265+36117_265+36118insTTG) n.4541_4542insTTG c.2889_2890insTTG n.2226_2227insTTG c.3811_3812insTTG c.1779_1780insTTG n.9095_9096insTTG c.9079_9080insTTG (p.Asn3027delinsIleAsp) c.9001_9002insTTG (p.Asn3001delinsIleAsp) c.6385_6386insTTG (p.Asn2129delinsIleAsp) c.9103_9104insTTG (p.Asn3035delinsIleAsp) c.9100_9101insTTG (p.Asn3034delinsIleAsp) c.9022_9023insTTG (p.Asn3008delinsIleAsp) c.9007_9008insTTG (p.Asn3003delinsIleAsp) c.2221_2222insTTG (p.Asn741delinsIleAsp) c.2200_2201insTTG (p.Asn734delinsIleAsp) n.9098_9099insTTG | |
5 | g.90712327A= | CA1562867532 | ADGRV1 | c.9083A= (p.Asn3028=) c.265+36118A= (n.265+36118A=) n.4542A= c.2890A= n.2227A= c.3812A= c.1780A= n.9096A= c.9080A= (p.Asn3027=) c.9002A= (p.Asn3001=) c.6386A= (p.Asn2129=) c.9104A= (p.Asn3035=) c.9101A= (p.Asn3034=) c.9023A= (p.Asn3008=) c.9008A= (p.Asn3003=) c.2222A= (p.Asn741=) c.2201A= (p.Asn734=) n.9099A= | |
5 | g.90712327A>C | CA360396202 | ADGRV1 | c.9083A>C (p.Asn3028Thr) c.265+36118A>C (n.265+36118A>C) n.4542A>C c.2890A>C n.2227A>C c.3812A>C c.1780A>C n.9096A>C c.9080A>C (p.Asn3027Thr) c.9002A>C (p.Asn3001Thr) c.6386A>C (p.Asn2129Thr) c.9104A>C (p.Asn3035Thr) c.9101A>C (p.Asn3034Thr) c.9023A>C (p.Asn3008Thr) c.9008A>C (p.Asn3003Thr) c.2222A>C (p.Asn741Thr) c.2201A>C (p.Asn734Thr) n.9099A>C | |
5 | g.90712327A>G | CA245640 | ADGRV1 | c.9083A>G (p.Asn3028Ser) c.265+36118A>G (n.265+36118A>G) n.4542A>G c.2890A>G n.2227A>G c.3812A>G c.1780A>G n.9096A>G c.9080A>G (p.Asn3027Ser) c.9002A>G (p.Asn3001Ser) c.6386A>G (p.Asn2129Ser) c.9104A>G (p.Asn3035Ser) c.9101A>G (p.Asn3034Ser) c.9023A>G (p.Asn3008Ser) c.9008A>G (p.Asn3003Ser) c.2222A>G (p.Asn741Ser) c.2201A>G (p.Asn734Ser) n.9099A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90712327A>T | CA360396201 | ADGRV1 | c.9083A>T (p.Asn3028Ile) c.265+36118A>T (n.265+36118A>T) n.4542A>T c.2890A>T n.2227A>T c.3812A>T c.1780A>T n.9096A>T c.9080A>T (p.Asn3027Ile) c.9002A>T (p.Asn3001Ile) c.6386A>T (p.Asn2129Ile) c.9104A>T (p.Asn3035Ile) c.9101A>T (p.Asn3034Ile) c.9023A>T (p.Asn3008Ile) c.9008A>T (p.Asn3003Ile) c.2222A>T (p.Asn741Ile) c.2201A>T (p.Asn734Ile) n.9099A>T | |
5 | g.90712328T>A | CA360396203 | ADGRV1 | c.9084T>A (p.Asn3028Lys) c.265+36119T>A (n.265+36119T>A) n.4543T>A c.2891T>A n.2228T>A c.3813T>A c.1781T>A n.9097T>A c.9081T>A (p.Asn3027Lys) c.9003T>A (p.Asn3001Lys) c.6387T>A (p.Asn2129Lys) c.9105T>A (p.Asn3035Lys) c.9102T>A (p.Asn3034Lys) c.9024T>A (p.Asn3008Lys) c.9009T>A (p.Asn3003Lys) c.2223T>A (p.Asn741Lys) c.2202T>A (p.Asn734Lys) n.9100T>A | |
5 | g.90712328T>C | CA445411834 | ADGRV1 | c.9084T>C (p.Asn3028=) c.265+36119T>C (n.265+36119T>C) n.4543T>C c.2891T>C n.2228T>C c.3813T>C c.1781T>C n.9097T>C c.9081T>C (p.Asn3027=) c.9003T>C (p.Asn3001=) c.6387T>C (p.Asn2129=) c.9105T>C (p.Asn3035=) c.9102T>C (p.Asn3034=) c.9024T>C (p.Asn3008=) c.9009T>C (p.Asn3003=) c.2223T>C (p.Asn741=) c.2202T>C (p.Asn734=) n.9100T>C | ClinVar |
5 | g.90712328T>G | CA360396204 | ADGRV1 | c.9084T>G (p.Asn3028Lys) c.265+36119T>G (n.265+36119T>G) n.4543T>G c.2891T>G n.2228T>G c.3813T>G c.1781T>G n.9097T>G c.9081T>G (p.Asn3027Lys) c.9003T>G (p.Asn3001Lys) c.6387T>G (p.Asn2129Lys) c.9105T>G (p.Asn3035Lys) c.9102T>G (p.Asn3034Lys) c.9024T>G (p.Asn3008Lys) c.9009T>G (p.Asn3003Lys) c.2223T>G (p.Asn741Lys) c.2202T>G (p.Asn734Lys) n.9100T>G | |
5 | g.90712329A= | CA1562867533 | ADGRV1 | c.9085A= (p.Ile3029=) c.265+36120A= (n.265+36120A=) n.4544A= c.2892A= n.2229A= c.3814A= c.1782A= n.9098A= c.9082A= (p.Ile3028=) c.9004A= (p.Ile3002=) c.6388A= (p.Ile2130=) c.9106A= (p.Ile3036=) c.9103A= (p.Ile3035=) c.9025A= (p.Ile3009=) c.9010A= (p.Ile3004=) c.2224A= (p.Ile742=) c.2203A= (p.Ile735=) n.9101A= | |
5 | g.90712329A>C | CA360396205 | ADGRV1 | c.9085A>C (p.Ile3029Leu) c.265+36120A>C (n.265+36120A>C) n.4544A>C c.2892A>C n.2229A>C c.3814A>C c.1782A>C n.9098A>C c.9082A>C (p.Ile3028Leu) c.9004A>C (p.Ile3002Leu) c.6388A>C (p.Ile2130Leu) c.9106A>C (p.Ile3036Leu) c.9103A>C (p.Ile3035Leu) c.9025A>C (p.Ile3009Leu) c.9010A>C (p.Ile3004Leu) c.2224A>C (p.Ile742Leu) c.2203A>C (p.Ile735Leu) n.9101A>C | |
5 | g.90712329A>G | CA360396206 | ADGRV1 | c.9085A>G (p.Ile3029Val) c.265+36120A>G (n.265+36120A>G) n.4544A>G c.2892A>G n.2229A>G c.3814A>G c.1782A>G n.9098A>G c.9082A>G (p.Ile3028Val) c.9004A>G (p.Ile3002Val) c.6388A>G (p.Ile2130Val) c.9106A>G (p.Ile3036Val) c.9103A>G (p.Ile3035Val) c.9025A>G (p.Ile3009Val) c.9010A>G (p.Ile3004Val) c.2224A>G (p.Ile742Val) c.2203A>G (p.Ile735Val) n.9101A>G | dbSNP |
5 | g.90712329A>T | CA360396207 | ADGRV1 | c.9085A>T (p.Ile3029Phe) c.265+36120A>T (n.265+36120A>T) n.4544A>T c.2892A>T n.2229A>T c.3814A>T c.1782A>T n.9098A>T c.9082A>T (p.Ile3028Phe) c.9004A>T (p.Ile3002Phe) c.6388A>T (p.Ile2130Phe) c.9106A>T (p.Ile3036Phe) c.9103A>T (p.Ile3035Phe) c.9025A>T (p.Ile3009Phe) c.9010A>T (p.Ile3004Phe) c.2224A>T (p.Ile742Phe) c.2203A>T (p.Ile735Phe) n.9101A>T | gnomAD v4 |
5 | g.90712330T>A | CA360396208 | ADGRV1 | c.9086T>A (p.Ile3029Asn) c.265+36121T>A (n.265+36121T>A) n.4545T>A c.2893T>A n.2230T>A c.3815T>A c.1783T>A n.9099T>A c.9083T>A (p.Ile3028Asn) c.9005T>A (p.Ile3002Asn) c.6389T>A (p.Ile2130Asn) c.9107T>A (p.Ile3036Asn) c.9104T>A (p.Ile3035Asn) c.9026T>A (p.Ile3009Asn) c.9011T>A (p.Ile3004Asn) c.2225T>A (p.Ile742Asn) c.2204T>A (p.Ile735Asn) n.9102T>A | |
5 | g.90712330T>C | CA360396209 | ADGRV1 | c.9086T>C (p.Ile3029Thr) c.265+36121T>C (n.265+36121T>C) n.4545T>C c.2893T>C n.2230T>C c.3815T>C c.1783T>C n.9099T>C c.9083T>C (p.Ile3028Thr) c.9005T>C (p.Ile3002Thr) c.6389T>C (p.Ile2130Thr) c.9107T>C (p.Ile3036Thr) c.9104T>C (p.Ile3035Thr) c.9026T>C (p.Ile3009Thr) c.9011T>C (p.Ile3004Thr) c.2225T>C (p.Ile742Thr) c.2204T>C (p.Ile735Thr) n.9102T>C | |
5 | g.90712330T>G | CA360396210 | ADGRV1 | c.9086T>G (p.Ile3029Ser) c.265+36121T>G (n.265+36121T>G) n.4545T>G c.2893T>G n.2230T>G c.3815T>G c.1783T>G n.9099T>G c.9083T>G (p.Ile3028Ser) c.9005T>G (p.Ile3002Ser) c.6389T>G (p.Ile2130Ser) c.9107T>G (p.Ile3036Ser) c.9104T>G (p.Ile3035Ser) c.9026T>G (p.Ile3009Ser) c.9011T>G (p.Ile3004Ser) c.2225T>G (p.Ile742Ser) c.2204T>G (p.Ile735Ser) n.9102T>G | |
5 | g.90712331C>A | CA445411843 | ADGRV1 | c.9087C>A (p.Ile3029=) c.265+36122C>A (n.265+36122C>A) n.4546C>A c.2894C>A n.2231C>A c.3816C>A c.1784C>A n.9100C>A c.9084C>A (p.Ile3028=) c.9006C>A (p.Ile3002=) c.6390C>A (p.Ile2130=) c.9108C>A (p.Ile3036=) c.9105C>A (p.Ile3035=) c.9027C>A (p.Ile3009=) c.9012C>A (p.Ile3004=) c.2226C>A (p.Ile742=) c.2205C>A (p.Ile735=) n.9103C>A | gnomAD v4 |
5 | g.90712331C= | CA1562867534 | ADGRV1 | c.9087C= (p.Ile3029=) c.265+36122C= (n.265+36122C=) n.4546C= c.2894C= n.2231C= c.3816C= c.1784C= n.9100C= c.9084C= (p.Ile3028=) c.9006C= (p.Ile3002=) c.6390C= (p.Ile2130=) c.9108C= (p.Ile3036=) c.9105C= (p.Ile3035=) c.9027C= (p.Ile3009=) c.9012C= (p.Ile3004=) c.2226C= (p.Ile742=) c.2205C= (p.Ile735=) n.9103C= | |
5 | g.90712331C>G | CA122804752 | ADGRV1 | c.9087C>G (p.Ile3029Met) c.265+36122C>G (n.265+36122C>G) n.4546C>G c.2894C>G n.2231C>G c.3816C>G c.1784C>G n.9100C>G c.9084C>G (p.Ile3028Met) c.9006C>G (p.Ile3002Met) c.6390C>G (p.Ile2130Met) c.9108C>G (p.Ile3036Met) c.9105C>G (p.Ile3035Met) c.9027C>G (p.Ile3009Met) c.9012C>G (p.Ile3004Met) c.2226C>G (p.Ile742Met) c.2205C>G (p.Ile735Met) n.9103C>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.90712331C>T | CA445411845 | ADGRV1 | c.9087C>T (p.Ile3029=) c.265+36122C>T (n.265+36122C>T) n.4546C>T c.2894C>T n.2231C>T c.3816C>T c.1784C>T n.9100C>T c.9084C>T (p.Ile3028=) c.9006C>T (p.Ile3002=) c.6390C>T (p.Ile2130=) c.9108C>T (p.Ile3036=) c.9105C>T (p.Ile3035=) c.9027C>T (p.Ile3009=) c.9012C>T (p.Ile3004=) c.2226C>T (p.Ile742=) c.2205C>T (p.Ile735=) n.9103C>T | |
5 | g.90712332A= | CA1562867535 | ADGRV1 | c.9088A= (p.Met3030=) c.265+36123A= (n.265+36123A=) n.4547A= c.2895A= n.2232A= c.3817A= c.1785A= n.9101A= c.9085A= (p.Met3029=) c.9007A= (p.Met3003=) c.6391A= (p.Met2131=) c.9109A= (p.Met3037=) c.9106A= (p.Met3036=) c.9028A= (p.Met3010=) c.9013A= (p.Met3005=) c.2227A= (p.Met743=) c.2206A= (p.Met736=) n.9104A= | |
5 | g.90712332A>C | CA360396211 | ADGRV1 | c.9088A>C (p.Met3030Leu) c.265+36123A>C (n.265+36123A>C) n.4547A>C c.2895A>C n.2232A>C c.3817A>C c.1785A>C n.9101A>C c.9085A>C (p.Met3029Leu) c.9007A>C (p.Met3003Leu) c.6391A>C (p.Met2131Leu) c.9109A>C (p.Met3037Leu) c.9106A>C (p.Met3036Leu) c.9028A>C (p.Met3010Leu) c.9013A>C (p.Met3005Leu) c.2227A>C (p.Met743Leu) c.2206A>C (p.Met736Leu) n.9104A>C | |
5 | g.90712332A>G | CA360396212 | ADGRV1 | c.9088A>G (p.Met3030Val) c.265+36123A>G (n.265+36123A>G) n.4547A>G c.2895A>G n.2232A>G c.3817A>G c.1785A>G n.9101A>G c.9085A>G (p.Met3029Val) c.9007A>G (p.Met3003Val) c.6391A>G (p.Met2131Val) c.9109A>G (p.Met3037Val) c.9106A>G (p.Met3036Val) c.9028A>G (p.Met3010Val) c.9013A>G (p.Met3005Val) c.2227A>G (p.Met743Val) c.2206A>G (p.Met736Val) n.9104A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.90712332A>T | CA360396213 | ADGRV1 | c.9088A>T (p.Met3030Leu) c.265+36123A>T (n.265+36123A>T) n.4547A>T c.2895A>T n.2232A>T c.3817A>T c.1785A>T n.9101A>T c.9085A>T (p.Met3029Leu) c.9007A>T (p.Met3003Leu) c.6391A>T (p.Met2131Leu) c.9109A>T (p.Met3037Leu) c.9106A>T (p.Met3036Leu) c.9028A>T (p.Met3010Leu) c.9013A>T (p.Met3005Leu) c.2227A>T (p.Met743Leu) c.2206A>T (p.Met736Leu) n.9104A>T | |
5 | g.90712333T>A | CA360396216 | ADGRV1 | c.9089T>A (p.Met3030Lys) c.265+36124T>A (n.265+36124T>A) n.4548T>A c.2896T>A n.2233T>A c.3818T>A c.1786T>A n.9102T>A c.9086T>A (p.Met3029Lys) c.9008T>A (p.Met3003Lys) c.6392T>A (p.Met2131Lys) c.9110T>A (p.Met3037Lys) c.9107T>A (p.Met3036Lys) c.9029T>A (p.Met3010Lys) c.9014T>A (p.Met3005Lys) c.2228T>A (p.Met743Lys) c.2207T>A (p.Met736Lys) n.9105T>A | |
5 | g.90712333T>C | CA360396215 | ADGRV1 | c.9089T>C (p.Met3030Thr) c.265+36124T>C (n.265+36124T>C) n.4548T>C c.2896T>C n.2233T>C c.3818T>C c.1786T>C n.9102T>C c.9086T>C (p.Met3029Thr) c.9008T>C (p.Met3003Thr) c.6392T>C (p.Met2131Thr) c.9110T>C (p.Met3037Thr) c.9107T>C (p.Met3036Thr) c.9029T>C (p.Met3010Thr) c.9014T>C (p.Met3005Thr) c.2228T>C (p.Met743Thr) c.2207T>C (p.Met736Thr) n.9105T>C | gnomAD v4 |
5 | g.90712333T>G | CA360396214 | ADGRV1 | c.9089T>G (p.Met3030Arg) c.265+36124T>G (n.265+36124T>G) n.4548T>G c.2896T>G n.2233T>G c.3818T>G c.1786T>G n.9102T>G c.9086T>G (p.Met3029Arg) c.9008T>G (p.Met3003Arg) c.6392T>G (p.Met2131Arg) c.9110T>G (p.Met3037Arg) c.9107T>G (p.Met3036Arg) c.9029T>G (p.Met3010Arg) c.9014T>G (p.Met3005Arg) c.2228T>G (p.Met743Arg) c.2207T>G (p.Met736Arg) n.9105T>G | |
5 | g.90712334G>A | CA360396217 | ADGRV1 | c.9090G>A (p.Met3030Ile) c.265+36125G>A (n.265+36125G>A) n.4549G>A c.2897G>A n.2234G>A c.3819G>A c.1787G>A n.9103G>A c.9087G>A (p.Met3029Ile) c.9009G>A (p.Met3003Ile) c.6393G>A (p.Met2131Ile) c.9111G>A (p.Met3037Ile) c.9108G>A (p.Met3036Ile) c.9030G>A (p.Met3010Ile) c.9015G>A (p.Met3005Ile) c.2229G>A (p.Met743Ile) c.2208G>A (p.Met736Ile) n.9106G>A | gnomAD v4 |
5 | g.90712334G>C | CA360396218 | ADGRV1 | c.9090G>C (p.Met3030Ile) c.265+36125G>C (n.265+36125G>C) n.4549G>C c.2897G>C n.2234G>C c.3819G>C c.1787G>C n.9103G>C c.9087G>C (p.Met3029Ile) c.9009G>C (p.Met3003Ile) c.6393G>C (p.Met2131Ile) c.9111G>C (p.Met3037Ile) c.9108G>C (p.Met3036Ile) c.9030G>C (p.Met3010Ile) c.9015G>C (p.Met3005Ile) c.2229G>C (p.Met743Ile) c.2208G>C (p.Met736Ile) n.9106G>C | |
5 | g.90712334G>T | CA360396219 | ADGRV1 | c.9090G>T (p.Met3030Ile) c.265+36125G>T (n.265+36125G>T) n.4549G>T c.2897G>T n.2234G>T c.3819G>T c.1787G>T n.9103G>T c.9087G>T (p.Met3029Ile) c.9009G>T (p.Met3003Ile) c.6393G>T (p.Met2131Ile) c.9111G>T (p.Met3037Ile) c.9108G>T (p.Met3036Ile) c.9030G>T (p.Met3010Ile) c.9015G>T (p.Met3005Ile) c.2229G>T (p.Met743Ile) c.2208G>T (p.Met736Ile) n.9106G>T | gnomAD v4 |
5 | g.90712335A>C | CA360396220 | ADGRV1 | c.9091A>C (p.Ile3031Leu) c.265+36126A>C (n.265+36126A>C) n.4550A>C c.2898A>C n.2235A>C c.3820A>C c.1788A>C n.9104A>C c.9088A>C (p.Ile3030Leu) c.9010A>C (p.Ile3004Leu) c.6394A>C (p.Ile2132Leu) c.9112A>C (p.Ile3038Leu) c.9109A>C (p.Ile3037Leu) c.9031A>C (p.Ile3011Leu) c.9016A>C (p.Ile3006Leu) c.2230A>C (p.Ile744Leu) c.2209A>C (p.Ile737Leu) n.9107A>C | |
5 | g.90712335A>G | CA360396221 | ADGRV1 | c.9091A>G (p.Ile3031Val) c.265+36126A>G (n.265+36126A>G) n.4550A>G c.2898A>G n.2235A>G c.3820A>G c.1788A>G n.9104A>G c.9088A>G (p.Ile3030Val) c.9010A>G (p.Ile3004Val) c.6394A>G (p.Ile2132Val) c.9112A>G (p.Ile3038Val) c.9109A>G (p.Ile3037Val) c.9031A>G (p.Ile3011Val) c.9016A>G (p.Ile3006Val) c.2230A>G (p.Ile744Val) c.2209A>G (p.Ile737Val) n.9107A>G | |
5 | g.90712335A>T | CA360396222 | ADGRV1 | c.9091A>T (p.Ile3031Phe) c.265+36126A>T (n.265+36126A>T) n.4550A>T c.2898A>T n.2235A>T c.3820A>T c.1788A>T n.9104A>T c.9088A>T (p.Ile3030Phe) c.9010A>T (p.Ile3004Phe) c.6394A>T (p.Ile2132Phe) c.9112A>T (p.Ile3038Phe) c.9109A>T (p.Ile3037Phe) c.9031A>T (p.Ile3011Phe) c.9016A>T (p.Ile3006Phe) c.2230A>T (p.Ile744Phe) c.2209A>T (p.Ile737Phe) n.9107A>T | |
5 | g.90712336T>A | CA360396223 | ADGRV1 | c.9092T>A (p.Ile3031Asn) c.265+36127T>A (n.265+36127T>A) n.4551T>A c.2899T>A n.2236T>A c.3821T>A c.1789T>A n.9105T>A c.9089T>A (p.Ile3030Asn) c.9011T>A (p.Ile3004Asn) c.6395T>A (p.Ile2132Asn) c.9113T>A (p.Ile3038Asn) c.9110T>A (p.Ile3037Asn) c.9032T>A (p.Ile3011Asn) c.9017T>A (p.Ile3006Asn) c.2231T>A (p.Ile744Asn) c.2210T>A (p.Ile737Asn) n.9108T>A | |
5 | g.90712336T>C | CA360396224 | ADGRV1 | c.9092T>C (p.Ile3031Thr) c.265+36127T>C (n.265+36127T>C) n.4551T>C c.2899T>C n.2236T>C c.3821T>C c.1789T>C n.9105T>C c.9089T>C (p.Ile3030Thr) c.9011T>C (p.Ile3004Thr) c.6395T>C (p.Ile2132Thr) c.9113T>C (p.Ile3038Thr) c.9110T>C (p.Ile3037Thr) c.9032T>C (p.Ile3011Thr) c.9017T>C (p.Ile3006Thr) c.2231T>C (p.Ile744Thr) c.2210T>C (p.Ile737Thr) n.9108T>C | gnomAD v4 |
5 | g.90712336T>G | CA360396225 | ADGRV1 | c.9092T>G (p.Ile3031Ser) c.265+36127T>G (n.265+36127T>G) n.4551T>G c.2899T>G n.2236T>G c.3821T>G c.1789T>G n.9105T>G c.9089T>G (p.Ile3030Ser) c.9011T>G (p.Ile3004Ser) c.6395T>G (p.Ile2132Ser) c.9113T>G (p.Ile3038Ser) c.9110T>G (p.Ile3037Ser) c.9032T>G (p.Ile3011Ser) c.9017T>G (p.Ile3006Ser) c.2231T>G (p.Ile744Ser) c.2210T>G (p.Ile737Ser) n.9108T>G | |
5 | g.90712337T>A | CA445411858 | ADGRV1 | c.9093T>A (p.Ile3031=) c.265+36128T>A (n.265+36128T>A) n.4552T>A c.2900T>A n.2237T>A c.3822T>A c.1790T>A n.9106T>A c.9090T>A (p.Ile3030=) c.9012T>A (p.Ile3004=) c.6396T>A (p.Ile2132=) c.9114T>A (p.Ile3038=) c.9111T>A (p.Ile3037=) c.9033T>A (p.Ile3011=) c.9018T>A (p.Ile3006=) c.2232T>A (p.Ile744=) c.2211T>A (p.Ile737=) n.9109T>A | |
5 | g.90712337T>C | CA445411861 | ADGRV1 | c.9093T>C (p.Ile3031=) c.265+36128T>C (n.265+36128T>C) n.4552T>C c.2900T>C n.2237T>C c.3822T>C c.1790T>C n.9106T>C c.9090T>C (p.Ile3030=) c.9012T>C (p.Ile3004=) c.6396T>C (p.Ile2132=) c.9114T>C (p.Ile3038=) c.9111T>C (p.Ile3037=) c.9033T>C (p.Ile3011=) c.9018T>C (p.Ile3006=) c.2232T>C (p.Ile744=) c.2211T>C (p.Ile737=) n.9109T>C | gnomAD v4 |
5 | g.90712337T>G | CA360396226 | ADGRV1 | c.9093T>G (p.Ile3031Met) c.265+36128T>G (n.265+36128T>G) n.4552T>G c.2900T>G n.2237T>G c.3822T>G c.1790T>G n.9106T>G c.9090T>G (p.Ile3030Met) c.9012T>G (p.Ile3004Met) c.6396T>G (p.Ile2132Met) c.9114T>G (p.Ile3038Met) c.9111T>G (p.Ile3037Met) c.9033T>G (p.Ile3011Met) c.9018T>G (p.Ile3006Met) c.2232T>G (p.Ile744Met) c.2211T>G (p.Ile737Met) n.9109T>G | |
5 | g.90712338C>A | CA360396227 | ADGRV1 | c.9094C>A (p.Leu3032Ile) c.265+36129C>A (n.265+36129C>A) n.4553C>A c.2901C>A n.2238C>A c.3823C>A c.1791C>A n.9107C>A c.9091C>A (p.Leu3031Ile) c.9013C>A (p.Leu3005Ile) c.6397C>A (p.Leu2133Ile) c.9115C>A (p.Leu3039Ile) c.9112C>A (p.Leu3038Ile) c.9034C>A (p.Leu3012Ile) c.9019C>A (p.Leu3007Ile) c.2233C>A (p.Leu745Ile) c.2212C>A (p.Leu738Ile) n.9110C>A | gnomAD v4 COSMIC |
5 | g.90712338C>G | CA360396228 | ADGRV1 | c.9094C>G (p.Leu3032Val) c.265+36129C>G (n.265+36129C>G) n.4553C>G c.2901C>G n.2238C>G c.3823C>G c.1791C>G n.9107C>G c.9091C>G (p.Leu3031Val) c.9013C>G (p.Leu3005Val) c.6397C>G (p.Leu2133Val) c.9115C>G (p.Leu3039Val) c.9112C>G (p.Leu3038Val) c.9034C>G (p.Leu3012Val) c.9019C>G (p.Leu3007Val) c.2233C>G (p.Leu745Val) c.2212C>G (p.Leu738Val) n.9110C>G | |
5 | g.90712338C>T | CA360396229 | ADGRV1 | c.9094C>T (p.Leu3032Phe) c.265+36129C>T (n.265+36129C>T) n.4553C>T c.2901C>T n.2238C>T c.3823C>T c.1791C>T n.9107C>T c.9091C>T (p.Leu3031Phe) c.9013C>T (p.Leu3005Phe) c.6397C>T (p.Leu2133Phe) c.9115C>T (p.Leu3039Phe) c.9112C>T (p.Leu3038Phe) c.9034C>T (p.Leu3012Phe) c.9019C>T (p.Leu3007Phe) c.2233C>T (p.Leu745Phe) c.2212C>T (p.Leu738Phe) n.9110C>T | COSMIC |
5 | g.90712339T>A | CA360396232 | ADGRV1 | c.9095T>A (p.Leu3032His) c.265+36130T>A (n.265+36130T>A) n.4554T>A c.2902T>A n.2239T>A c.3824T>A c.1792T>A n.9108T>A c.9092T>A (p.Leu3031His) c.9014T>A (p.Leu3005His) c.6398T>A (p.Leu2133His) c.9116T>A (p.Leu3039His) c.9113T>A (p.Leu3038His) c.9035T>A (p.Leu3012His) c.9020T>A (p.Leu3007His) c.2234T>A (p.Leu745His) c.2213T>A (p.Leu738His) n.9111T>A | |
5 | g.90712339T>C | CA360396230 | ADGRV1 | c.9095T>C (p.Leu3032Pro) c.265+36130T>C (n.265+36130T>C) n.4554T>C c.2902T>C n.2239T>C c.3824T>C c.1792T>C n.9108T>C c.9092T>C (p.Leu3031Pro) c.9014T>C (p.Leu3005Pro) c.6398T>C (p.Leu2133Pro) c.9116T>C (p.Leu3039Pro) c.9113T>C (p.Leu3038Pro) c.9035T>C (p.Leu3012Pro) c.9020T>C (p.Leu3007Pro) c.2234T>C (p.Leu745Pro) c.2213T>C (p.Leu738Pro) n.9111T>C | gnomAD v4 |
5 | g.90712339T>G | CA360396231 | ADGRV1 | c.9095T>G (p.Leu3032Arg) c.265+36130T>G (n.265+36130T>G) n.4554T>G c.2902T>G n.2239T>G c.3824T>G c.1792T>G n.9108T>G c.9092T>G (p.Leu3031Arg) c.9014T>G (p.Leu3005Arg) c.6398T>G (p.Leu2133Arg) c.9116T>G (p.Leu3039Arg) c.9113T>G (p.Leu3038Arg) c.9035T>G (p.Leu3012Arg) c.9020T>G (p.Leu3007Arg) c.2234T>G (p.Leu745Arg) c.2213T>G (p.Leu738Arg) n.9111T>G | dbSNP |
5 | g.90712340del | CA2674570097 | ADGRV1 | c.9096del (p.Asp3033MetfsTer13) c.265+36131del (n.265+36131del) n.4555del c.2903del n.2240del c.3825del c.1793del n.9109del c.9093del (p.Asp3032MetfsTer13) c.9015del (p.Asp3006MetfsTer13) c.6399del (p.Asp2134MetfsTer13) c.9117del (p.Asp3040MetfsTer13) c.9114del (p.Asp3039MetfsTer13) c.9036del (p.Asp3013MetfsTer13) c.9021del (p.Asp3008MetfsTer13) c.2235del (p.Asp746MetfsTer13) c.2214del (p.Asp739MetfsTer13) n.9112del | gnomAD v4 |
5 | g.90712340T>A | CA445411871 | ADGRV1 | c.9096T>A (p.Leu3032=) c.265+36131T>A (n.265+36131T>A) n.4555T>A c.2903T>A n.2240T>A c.3825T>A c.1793T>A n.9109T>A c.9093T>A (p.Leu3031=) c.9015T>A (p.Leu3005=) c.6399T>A (p.Leu2133=) c.9117T>A (p.Leu3039=) c.9114T>A (p.Leu3038=) c.9036T>A (p.Leu3012=) c.9021T>A (p.Leu3007=) c.2235T>A (p.Leu745=) c.2214T>A (p.Leu738=) n.9112T>A | |
5 | g.90712340T>C | CA445411867 | ADGRV1 | c.9096T>C (p.Leu3032=) c.265+36131T>C (n.265+36131T>C) n.4555T>C c.2903T>C n.2240T>C c.3825T>C c.1793T>C n.9109T>C c.9093T>C (p.Leu3031=) c.9015T>C (p.Leu3005=) c.6399T>C (p.Leu2133=) c.9117T>C (p.Leu3039=) c.9114T>C (p.Leu3038=) c.9036T>C (p.Leu3012=) c.9021T>C (p.Leu3007=) c.2235T>C (p.Leu745=) c.2214T>C (p.Leu738=) n.9112T>C | gnomAD v4 |
5 | g.90712340T>G | CA445411869 | ADGRV1 | c.9096T>G (p.Leu3032=) c.265+36131T>G (n.265+36131T>G) n.4555T>G c.2903T>G n.2240T>G c.3825T>G c.1793T>G n.9109T>G c.9093T>G (p.Leu3031=) c.9015T>G (p.Leu3005=) c.6399T>G (p.Leu2133=) c.9117T>G (p.Leu3039=) c.9114T>G (p.Leu3038=) c.9036T>G (p.Leu3012=) c.9021T>G (p.Leu3007=) c.2235T>G (p.Leu745=) c.2214T>G (p.Leu738=) n.9112T>G | gnomAD v4 |
5 | g.90712341G>A | CA360396233 | ADGRV1 | c.9097G>A (p.Asp3033Asn) c.265+36132G>A (n.265+36132G>A) n.4556G>A c.2904G>A n.2241G>A c.3826G>A c.1794G>A n.9110G>A c.9094G>A (p.Asp3032Asn) c.9016G>A (p.Asp3006Asn) c.6400G>A (p.Asp2134Asn) c.9118G>A (p.Asp3040Asn) c.9115G>A (p.Asp3039Asn) c.9037G>A (p.Asp3013Asn) c.9022G>A (p.Asp3008Asn) c.2236G>A (p.Asp746Asn) c.2215G>A (p.Asp739Asn) n.9113G>A | gnomAD v4 |
5 | g.90712341G>C | CA360396234 | ADGRV1 | c.9097G>C (p.Asp3033His) c.265+36132G>C (n.265+36132G>C) n.4556G>C c.2904G>C n.2241G>C c.3826G>C c.1794G>C n.9110G>C c.9094G>C (p.Asp3032His) c.9016G>C (p.Asp3006His) c.6400G>C (p.Asp2134His) c.9118G>C (p.Asp3040His) c.9115G>C (p.Asp3039His) c.9037G>C (p.Asp3013His) c.9022G>C (p.Asp3008His) c.2236G>C (p.Asp746His) c.2215G>C (p.Asp739His) n.9113G>C | |
5 | g.90712341G>T | CA360396235 | ADGRV1 | c.9097G>T (p.Asp3033Tyr) c.265+36132G>T (n.265+36132G>T) n.4556G>T c.2904G>T n.2241G>T c.3826G>T c.1794G>T n.9110G>T c.9094G>T (p.Asp3032Tyr) c.9016G>T (p.Asp3006Tyr) c.6400G>T (p.Asp2134Tyr) c.9118G>T (p.Asp3040Tyr) c.9115G>T (p.Asp3039Tyr) c.9037G>T (p.Asp3013Tyr) c.9022G>T (p.Asp3008Tyr) c.2236G>T (p.Asp746Tyr) c.2215G>T (p.Asp739Tyr) n.9113G>T | gnomAD v4 |
5 | g.90712342A= | CA1562867536 | ADGRV1 | c.9098A= (p.Asp3033=) c.265+36133A= (n.265+36133A=) n.4557A= c.2905A= n.2242A= c.3827A= c.1795A= n.9111A= c.9095A= (p.Asp3032=) c.9017A= (p.Asp3006=) c.6401A= (p.Asp2134=) c.9119A= (p.Asp3040=) c.9116A= (p.Asp3039=) c.9038A= (p.Asp3013=) c.9023A= (p.Asp3008=) c.2237A= (p.Asp746=) c.2216A= (p.Asp739=) n.9114A= | |
5 | g.90712342A>C | CA360396236 | ADGRV1 | c.9098A>C (p.Asp3033Ala) c.265+36133A>C (n.265+36133A>C) n.4557A>C c.2905A>C n.2242A>C c.3827A>C c.1795A>C n.9111A>C c.9095A>C (p.Asp3032Ala) c.9017A>C (p.Asp3006Ala) c.6401A>C (p.Asp2134Ala) c.9119A>C (p.Asp3040Ala) c.9116A>C (p.Asp3039Ala) c.9038A>C (p.Asp3013Ala) c.9023A>C (p.Asp3008Ala) c.2237A>C (p.Asp746Ala) c.2216A>C (p.Asp739Ala) n.9114A>C | |
5 | g.90712342A>G | CA3340443 | ADGRV1 | c.9098A>G (p.Asp3033Gly) c.265+36133A>G (n.265+36133A>G) n.4557A>G c.2905A>G n.2242A>G c.3827A>G c.1795A>G n.9111A>G c.9095A>G (p.Asp3032Gly) c.9017A>G (p.Asp3006Gly) c.6401A>G (p.Asp2134Gly) c.9119A>G (p.Asp3040Gly) c.9116A>G (p.Asp3039Gly) c.9038A>G (p.Asp3013Gly) c.9023A>G (p.Asp3008Gly) c.2237A>G (p.Asp746Gly) c.2216A>G (p.Asp739Gly) n.9114A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90712342A>T | CA360396237 | ADGRV1 | c.9098A>T (p.Asp3033Val) c.265+36133A>T (n.265+36133A>T) n.4557A>T c.2905A>T n.2242A>T c.3827A>T c.1795A>T n.9111A>T c.9095A>T (p.Asp3032Val) c.9017A>T (p.Asp3006Val) c.6401A>T (p.Asp2134Val) c.9119A>T (p.Asp3040Val) c.9116A>T (p.Asp3039Val) c.9038A>T (p.Asp3013Val) c.9023A>T (p.Asp3008Val) c.2237A>T (p.Asp746Val) c.2216A>T (p.Asp739Val) n.9114A>T | |
5 | g.90712343T>A | CA360396238 | ADGRV1 | c.9099T>A (p.Asp3033Glu) c.265+36134T>A (n.265+36134T>A) n.4558T>A c.2906T>A n.2243T>A c.3828T>A c.1796T>A n.9112T>A c.9096T>A (p.Asp3032Glu) c.9018T>A (p.Asp3006Glu) c.6402T>A (p.Asp2134Glu) c.9120T>A (p.Asp3040Glu) c.9117T>A (p.Asp3039Glu) c.9039T>A (p.Asp3013Glu) c.9024T>A (p.Asp3008Glu) c.2238T>A (p.Asp746Glu) c.2217T>A (p.Asp739Glu) n.9115T>A | |
5 | g.90712343T>C | CA445411879 | ADGRV1 | c.9099T>C (p.Asp3033=) c.265+36134T>C (n.265+36134T>C) n.4558T>C c.2906T>C n.2243T>C c.3828T>C c.1796T>C n.9112T>C c.9096T>C (p.Asp3032=) c.9018T>C (p.Asp3006=) c.6402T>C (p.Asp2134=) c.9120T>C (p.Asp3040=) c.9117T>C (p.Asp3039=) c.9039T>C (p.Asp3013=) c.9024T>C (p.Asp3008=) c.2238T>C (p.Asp746=) c.2217T>C (p.Asp739=) n.9115T>C | |
5 | g.90712343T>G | CA360396239 | ADGRV1 | c.9099T>G (p.Asp3033Glu) c.265+36134T>G (n.265+36134T>G) n.4558T>G c.2906T>G n.2243T>G c.3828T>G c.1796T>G n.9112T>G c.9096T>G (p.Asp3032Glu) c.9018T>G (p.Asp3006Glu) c.6402T>G (p.Asp2134Glu) c.9120T>G (p.Asp3040Glu) c.9117T>G (p.Asp3039Glu) c.9039T>G (p.Asp3013Glu) c.9024T>G (p.Asp3008Glu) c.2238T>G (p.Asp746Glu) c.2217T>G (p.Asp739Glu) n.9115T>G | |
5 | g.90712344G>A | CA360396240 | ADGRV1 | c.9100G>A (p.Asp3034Asn) c.265+36135G>A (n.265+36135G>A) n.4559G>A c.2907G>A n.2244G>A c.3829G>A c.1797G>A n.9113G>A c.9097G>A (p.Asp3033Asn) c.9019G>A (p.Asp3007Asn) c.6403G>A (p.Asp2135Asn) c.9121G>A (p.Asp3041Asn) c.9118G>A (p.Asp3040Asn) c.9040G>A (p.Asp3014Asn) c.9025G>A (p.Asp3009Asn) c.2239G>A (p.Asp747Asn) c.2218G>A (p.Asp740Asn) n.9116G>A | |
5 | g.90712344G>C | CA360396241 | ADGRV1 | c.9100G>C (p.Asp3034His) c.265+36135G>C (n.265+36135G>C) n.4559G>C c.2907G>C n.2244G>C c.3829G>C c.1797G>C n.9113G>C c.9097G>C (p.Asp3033His) c.9019G>C (p.Asp3007His) c.6403G>C (p.Asp2135His) c.9121G>C (p.Asp3041His) c.9118G>C (p.Asp3040His) c.9040G>C (p.Asp3014His) c.9025G>C (p.Asp3009His) c.2239G>C (p.Asp747His) c.2218G>C (p.Asp740His) n.9116G>C | |
5 | g.90712344G>T | CA360396242 | ADGRV1 | c.9100G>T (p.Asp3034Tyr) c.265+36135G>T (n.265+36135G>T) n.4559G>T c.2907G>T n.2244G>T c.3829G>T c.1797G>T n.9113G>T c.9097G>T (p.Asp3033Tyr) c.9019G>T (p.Asp3007Tyr) c.6403G>T (p.Asp2135Tyr) c.9121G>T (p.Asp3041Tyr) c.9118G>T (p.Asp3040Tyr) c.9040G>T (p.Asp3014Tyr) c.9025G>T (p.Asp3009Tyr) c.2239G>T (p.Asp747Tyr) c.2218G>T (p.Asp740Tyr) n.9116G>T | |
5 | g.90712345A= | CA1562867537 | ADGRV1 | c.9101A= (p.Asp3034=) c.265+36136A= (n.265+36136A=) n.4560A= c.2908A= n.2245A= c.3830A= c.1798A= n.9114A= c.9098A= (p.Asp3033=) c.9020A= (p.Asp3007=) c.6404A= (p.Asp2135=) c.9122A= (p.Asp3041=) c.9119A= (p.Asp3040=) c.9041A= (p.Asp3014=) c.9026A= (p.Asp3009=) c.2240A= (p.Asp747=) c.2219A= (p.Asp740=) n.9117A= | |
5 | g.90712345A>C | CA360396245 | ADGRV1 | c.9101A>C (p.Asp3034Ala) c.265+36136A>C (n.265+36136A>C) n.4560A>C c.2908A>C n.2245A>C c.3830A>C c.1798A>C n.9114A>C c.9098A>C (p.Asp3033Ala) c.9020A>C (p.Asp3007Ala) c.6404A>C (p.Asp2135Ala) c.9122A>C (p.Asp3041Ala) c.9119A>C (p.Asp3040Ala) c.9041A>C (p.Asp3014Ala) c.9026A>C (p.Asp3009Ala) c.2240A>C (p.Asp747Ala) c.2219A>C (p.Asp740Ala) n.9117A>C | |
5 | g.90712345A>G | CA360396244 | ADGRV1 | c.9101A>G (p.Asp3034Gly) c.265+36136A>G (n.265+36136A>G) n.4560A>G c.2908A>G n.2245A>G c.3830A>G c.1798A>G n.9114A>G c.9098A>G (p.Asp3033Gly) c.9020A>G (p.Asp3007Gly) c.6404A>G (p.Asp2135Gly) c.9122A>G (p.Asp3041Gly) c.9119A>G (p.Asp3040Gly) c.9041A>G (p.Asp3014Gly) c.9026A>G (p.Asp3009Gly) c.2240A>G (p.Asp747Gly) c.2219A>G (p.Asp740Gly) n.9117A>G | |
5 | g.90712345A>T | CA360396243 | ADGRV1 | c.9101A>T (p.Asp3034Val) c.265+36136A>T (n.265+36136A>T) n.4560A>T c.2908A>T n.2245A>T c.3830A>T c.1798A>T n.9114A>T c.9098A>T (p.Asp3033Val) c.9020A>T (p.Asp3007Val) c.6404A>T (p.Asp2135Val) c.9122A>T (p.Asp3041Val) c.9119A>T (p.Asp3040Val) c.9041A>T (p.Asp3014Val) c.9026A>T (p.Asp3009Val) c.2240A>T (p.Asp747Val) c.2219A>T (p.Asp740Val) n.9117A>T | dbSNP gnomAD v2 |
5 | g.90712346T>A | CA360396246 | ADGRV1 | c.9102T>A (p.Asp3034Glu) c.265+36137T>A (n.265+36137T>A) n.4561T>A c.2909T>A n.2246T>A c.3831T>A c.1799T>A n.9115T>A c.9099T>A (p.Asp3033Glu) c.9021T>A (p.Asp3007Glu) c.6405T>A (p.Asp2135Glu) c.9123T>A (p.Asp3041Glu) c.9120T>A (p.Asp3040Glu) c.9042T>A (p.Asp3014Glu) c.9027T>A (p.Asp3009Glu) c.2241T>A (p.Asp747Glu) c.2220T>A (p.Asp740Glu) n.9118T>A | gnomAD v4 |
5 | g.90712346T>C | CA122804756 | ADGRV1 | c.9102T>C (p.Asp3034=) c.265+36137T>C (n.265+36137T>C) n.4561T>C c.2909T>C n.2246T>C c.3831T>C c.1799T>C n.9115T>C c.9099T>C (p.Asp3033=) c.9021T>C (p.Asp3007=) c.6405T>C (p.Asp2135=) c.9123T>C (p.Asp3041=) c.9120T>C (p.Asp3040=) c.9042T>C (p.Asp3014=) c.9027T>C (p.Asp3009=) c.2241T>C (p.Asp747=) c.2220T>C (p.Asp740=) n.9118T>C | dbSNP |
5 | g.90712346T>G | CA360396247 | ADGRV1 | c.9102T>G (p.Asp3034Glu) c.265+36137T>G (n.265+36137T>G) n.4561T>G c.2909T>G n.2246T>G c.3831T>G c.1799T>G n.9115T>G c.9099T>G (p.Asp3033Glu) c.9021T>G (p.Asp3007Glu) c.6405T>G (p.Asp2135Glu) c.9123T>G (p.Asp3041Glu) c.9120T>G (p.Asp3040Glu) c.9042T>G (p.Asp3014Glu) c.9027T>G (p.Asp3009Glu) c.2241T>G (p.Asp747Glu) c.2220T>G (p.Asp740Glu) n.9118T>G | |
5 | g.90712346T= | CA1562867538 | ADGRV1 | c.9102T= (p.Asp3034=) c.265+36137T= (n.265+36137T=) n.4561T= c.2909T= n.2246T= c.3831T= c.1799T= n.9115T= c.9099T= (p.Asp3033=) c.9021T= (p.Asp3007=) c.6405T= (p.Asp2135=) c.9123T= (p.Asp3041=) c.9120T= (p.Asp3040=) c.9042T= (p.Asp3014=) c.9027T= (p.Asp3009=) c.2241T= (p.Asp747=) c.2220T= (p.Asp740=) n.9118T= | |
5 | g.90712347G>A | CA360396248 | ADGRV1 | c.9103G>A (p.Asp3035Asn) c.265+36138G>A (n.265+36138G>A) n.4562G>A c.2910G>A n.2247G>A c.3832G>A c.1800G>A n.9116G>A c.9100G>A (p.Asp3034Asn) c.9022G>A (p.Asp3008Asn) c.6406G>A (p.Asp2136Asn) c.9124G>A (p.Asp3042Asn) c.9121G>A (p.Asp3041Asn) c.9043G>A (p.Asp3015Asn) c.9028G>A (p.Asp3010Asn) c.2242G>A (p.Asp748Asn) c.2221G>A (p.Asp741Asn) n.9119G>A | gnomAD v4 |
5 | g.90712347G>C | CA360396250 | ADGRV1 | c.9103G>C (p.Asp3035His) c.265+36138G>C (n.265+36138G>C) n.4562G>C c.2910G>C n.2247G>C c.3832G>C c.1800G>C n.9116G>C c.9100G>C (p.Asp3034His) c.9022G>C (p.Asp3008His) c.6406G>C (p.Asp2136His) c.9124G>C (p.Asp3042His) c.9121G>C (p.Asp3041His) c.9043G>C (p.Asp3015His) c.9028G>C (p.Asp3010His) c.2242G>C (p.Asp748His) c.2221G>C (p.Asp741His) n.9119G>C | |
5 | g.90712347G>T | CA360396249 | ADGRV1 | c.9103G>T (p.Asp3035Tyr) c.265+36138G>T (n.265+36138G>T) n.4562G>T c.2910G>T n.2247G>T c.3832G>T c.1800G>T n.9116G>T c.9100G>T (p.Asp3034Tyr) c.9022G>T (p.Asp3008Tyr) c.6406G>T (p.Asp2136Tyr) c.9124G>T (p.Asp3042Tyr) c.9121G>T (p.Asp3041Tyr) c.9043G>T (p.Asp3015Tyr) c.9028G>T (p.Asp3010Tyr) c.2242G>T (p.Asp748Tyr) c.2221G>T (p.Asp741Tyr) n.9119G>T | gnomAD v4 |
5 | g.90712348A>C | CA360396251 | ADGRV1 | c.9104A>C (p.Asp3035Ala) c.265+36139A>C (n.265+36139A>C) n.4563A>C c.2911A>C n.2248A>C c.3833A>C c.1801A>C n.9117A>C c.9101A>C (p.Asp3034Ala) c.9023A>C (p.Asp3008Ala) c.6407A>C (p.Asp2136Ala) c.9125A>C (p.Asp3042Ala) c.9122A>C (p.Asp3041Ala) c.9044A>C (p.Asp3015Ala) c.9029A>C (p.Asp3010Ala) c.2243A>C (p.Asp748Ala) c.2222A>C (p.Asp741Ala) n.9120A>C | |
5 | g.90712348A>G | CA360396253 | ADGRV1 | c.9104A>G (p.Asp3035Gly) c.265+36139A>G (n.265+36139A>G) n.4563A>G c.2911A>G n.2248A>G c.3833A>G c.1801A>G n.9117A>G c.9101A>G (p.Asp3034Gly) c.9023A>G (p.Asp3008Gly) c.6407A>G (p.Asp2136Gly) c.9125A>G (p.Asp3042Gly) c.9122A>G (p.Asp3041Gly) c.9044A>G (p.Asp3015Gly) c.9029A>G (p.Asp3010Gly) c.2243A>G (p.Asp748Gly) c.2222A>G (p.Asp741Gly) n.9120A>G | gnomAD v4 |
5 | g.90712348A>T | CA360396252 | ADGRV1 | c.9104A>T (p.Asp3035Val) c.265+36139A>T (n.265+36139A>T) n.4563A>T c.2911A>T n.2248A>T c.3833A>T c.1801A>T n.9117A>T c.9101A>T (p.Asp3034Val) c.9023A>T (p.Asp3008Val) c.6407A>T (p.Asp2136Val) c.9125A>T (p.Asp3042Val) c.9122A>T (p.Asp3041Val) c.9044A>T (p.Asp3015Val) c.9029A>T (p.Asp3010Val) c.2243A>T (p.Asp748Val) c.2222A>T (p.Asp741Val) n.9120A>T | |
5 | g.90712349C>A | CA360396254 | ADGRV1 | c.9105C>A (p.Asp3035Glu) c.265+36140C>A (n.265+36140C>A) n.4564C>A c.2912C>A n.2249C>A c.3834C>A c.1802C>A n.9118C>A c.9102C>A (p.Asp3034Glu) c.9024C>A (p.Asp3008Glu) c.6408C>A (p.Asp2136Glu) c.9126C>A (p.Asp3042Glu) c.9123C>A (p.Asp3041Glu) c.9045C>A (p.Asp3015Glu) c.9030C>A (p.Asp3010Glu) c.2244C>A (p.Asp748Glu) c.2223C>A (p.Asp741Glu) n.9121C>A | |
5 | g.90712349C>G | CA360396255 | ADGRV1 | c.9105C>G (p.Asp3035Glu) c.265+36140C>G (n.265+36140C>G) n.4564C>G c.2912C>G n.2249C>G c.3834C>G c.1802C>G n.9118C>G c.9102C>G (p.Asp3034Glu) c.9024C>G (p.Asp3008Glu) c.6408C>G (p.Asp2136Glu) c.9126C>G (p.Asp3042Glu) c.9123C>G (p.Asp3041Glu) c.9045C>G (p.Asp3015Glu) c.9030C>G (p.Asp3010Glu) c.2244C>G (p.Asp748Glu) c.2223C>G (p.Asp741Glu) n.9121C>G | |
5 | g.90712349C>T | CA445411896 | ADGRV1 | c.9105C>T (p.Asp3035=) c.265+36140C>T (n.265+36140C>T) n.4564C>T c.2912C>T n.2249C>T c.3834C>T c.1802C>T n.9118C>T c.9102C>T (p.Asp3034=) c.9024C>T (p.Asp3008=) c.6408C>T (p.Asp2136=) c.9126C>T (p.Asp3042=) c.9123C>T (p.Asp3041=) c.9045C>T (p.Asp3015=) c.9030C>T (p.Asp3010=) c.2244C>T (p.Asp748=) c.2223C>T (p.Asp741=) n.9121C>T | dbSNP gnomAD v4 |
5 | g.90712350A>C | CA360396256 | ADGRV1 | c.9106A>C (p.Ile3036Leu) c.265+36141A>C (n.265+36141A>C) n.4565A>C c.2913A>C n.2250A>C c.3835A>C c.1803A>C n.9119A>C c.9103A>C (p.Ile3035Leu) c.9025A>C (p.Ile3009Leu) c.6409A>C (p.Ile2137Leu) c.9127A>C (p.Ile3043Leu) c.9124A>C (p.Ile3042Leu) c.9046A>C (p.Ile3016Leu) c.9031A>C (p.Ile3011Leu) c.2245A>C (p.Ile749Leu) c.2224A>C (p.Ile742Leu) n.9122A>C | |
5 | g.90712350A>G | CA360396258 | ADGRV1 | c.9106A>G (p.Ile3036Val) c.265+36141A>G (n.265+36141A>G) n.4565A>G c.2913A>G n.2250A>G c.3835A>G c.1803A>G n.9119A>G c.9103A>G (p.Ile3035Val) c.9025A>G (p.Ile3009Val) c.6409A>G (p.Ile2137Val) c.9127A>G (p.Ile3043Val) c.9124A>G (p.Ile3042Val) c.9046A>G (p.Ile3016Val) c.9031A>G (p.Ile3011Val) c.2245A>G (p.Ile749Val) c.2224A>G (p.Ile742Val) n.9122A>G | |
5 | g.90712350A>T | CA360396257 | ADGRV1 | c.9106A>T (p.Ile3036Phe) c.265+36141A>T (n.265+36141A>T) n.4565A>T c.2913A>T n.2250A>T c.3835A>T c.1803A>T n.9119A>T c.9103A>T (p.Ile3035Phe) c.9025A>T (p.Ile3009Phe) c.6409A>T (p.Ile2137Phe) c.9127A>T (p.Ile3043Phe) c.9124A>T (p.Ile3042Phe) c.9046A>T (p.Ile3016Phe) c.9031A>T (p.Ile3011Phe) c.2245A>T (p.Ile749Phe) c.2224A>T (p.Ile742Phe) n.9122A>T | |
5 | g.90712351T>A | CA360396259 | ADGRV1 | c.9107T>A (p.Ile3036Asn) c.265+36142T>A (n.265+36142T>A) n.4566T>A c.2914T>A n.2251T>A c.3836T>A c.1804T>A n.9120T>A c.9104T>A (p.Ile3035Asn) c.9026T>A (p.Ile3009Asn) c.6410T>A (p.Ile2137Asn) c.9128T>A (p.Ile3043Asn) c.9125T>A (p.Ile3042Asn) c.9047T>A (p.Ile3016Asn) c.9032T>A (p.Ile3011Asn) c.2246T>A (p.Ile749Asn) c.2225T>A (p.Ile742Asn) n.9123T>A | |
5 | g.90712351T>C | CA360396261 | ADGRV1 | c.9107T>C (p.Ile3036Thr) c.265+36142T>C (n.265+36142T>C) n.4566T>C c.2914T>C n.2251T>C c.3836T>C c.1804T>C n.9120T>C c.9104T>C (p.Ile3035Thr) c.9026T>C (p.Ile3009Thr) c.6410T>C (p.Ile2137Thr) c.9128T>C (p.Ile3043Thr) c.9125T>C (p.Ile3042Thr) c.9047T>C (p.Ile3016Thr) c.9032T>C (p.Ile3011Thr) c.2246T>C (p.Ile749Thr) c.2225T>C (p.Ile742Thr) n.9123T>C | |
5 | g.90712351T>G | CA360396260 | ADGRV1 | c.9107T>G (p.Ile3036Ser) c.265+36142T>G (n.265+36142T>G) n.4566T>G c.2914T>G n.2251T>G c.3836T>G c.1804T>G n.9120T>G c.9104T>G (p.Ile3035Ser) c.9026T>G (p.Ile3009Ser) c.6410T>G (p.Ile2137Ser) c.9128T>G (p.Ile3043Ser) c.9125T>G (p.Ile3042Ser) c.9047T>G (p.Ile3016Ser) c.9032T>G (p.Ile3011Ser) c.2246T>G (p.Ile749Ser) c.2225T>G (p.Ile742Ser) n.9123T>G | |
5 | g.90712352T>A | CA445411903 | ADGRV1 | c.9108T>A (p.Ile3036=) c.265+36143T>A (n.265+36143T>A) n.4567T>A c.2915T>A n.2252T>A c.3837T>A c.1805T>A n.9121T>A c.9105T>A (p.Ile3035=) c.9027T>A (p.Ile3009=) c.6411T>A (p.Ile2137=) c.9129T>A (p.Ile3043=) c.9126T>A (p.Ile3042=) c.9048T>A (p.Ile3016=) c.9033T>A (p.Ile3011=) c.2247T>A (p.Ile749=) c.2226T>A (p.Ile742=) n.9124T>A | |
5 | g.90712352T>C | CA445411905 | ADGRV1 | c.9108T>C (p.Ile3036=) c.265+36143T>C (n.265+36143T>C) n.4567T>C c.2915T>C n.2252T>C c.3837T>C c.1805T>C n.9121T>C c.9105T>C (p.Ile3035=) c.9027T>C (p.Ile3009=) c.6411T>C (p.Ile2137=) c.9129T>C (p.Ile3043=) c.9126T>C (p.Ile3042=) c.9048T>C (p.Ile3016=) c.9033T>C (p.Ile3011=) c.2247T>C (p.Ile749=) c.2226T>C (p.Ile742=) n.9124T>C | |
5 | g.90712352T>G | CA360396262 | ADGRV1 | c.9108T>G (p.Ile3036Met) c.265+36143T>G (n.265+36143T>G) n.4567T>G c.2915T>G n.2252T>G c.3837T>G c.1805T>G n.9121T>G c.9105T>G (p.Ile3035Met) c.9027T>G (p.Ile3009Met) c.6411T>G (p.Ile2137Met) c.9129T>G (p.Ile3043Met) c.9126T>G (p.Ile3042Met) c.9048T>G (p.Ile3016Met) c.9033T>G (p.Ile3011Met) c.2247T>G (p.Ile749Met) c.2226T>G (p.Ile742Met) n.9124T>G | gnomAD v4 |
5 | g.90712353C>A | CA360396265 | ADGRV1 | c.9109C>A (p.Pro3037Thr) c.265+36144C>A (n.265+36144C>A) n.4568C>A c.2916C>A n.2253C>A c.3838C>A c.1806C>A n.9122C>A c.9106C>A (p.Pro3036Thr) c.9028C>A (p.Pro3010Thr) c.6412C>A (p.Pro2138Thr) c.9130C>A (p.Pro3044Thr) c.9127C>A (p.Pro3043Thr) c.9049C>A (p.Pro3017Thr) c.9034C>A (p.Pro3012Thr) c.2248C>A (p.Pro750Thr) c.2227C>A (p.Pro743Thr) n.9125C>A | gnomAD v4 |
5 | g.90712353C>G | CA360396263 | ADGRV1 | c.9109C>G (p.Pro3037Ala) c.265+36144C>G (n.265+36144C>G) n.4568C>G c.2916C>G n.2253C>G c.3838C>G c.1806C>G n.9122C>G c.9106C>G (p.Pro3036Ala) c.9028C>G (p.Pro3010Ala) c.6412C>G (p.Pro2138Ala) c.9130C>G (p.Pro3044Ala) c.9127C>G (p.Pro3043Ala) c.9049C>G (p.Pro3017Ala) c.9034C>G (p.Pro3012Ala) c.2248C>G (p.Pro750Ala) c.2227C>G (p.Pro743Ala) n.9125C>G | |
5 | g.90712353C>T | CA360396264 | ADGRV1 | c.9109C>T (p.Pro3037Ser) c.265+36144C>T (n.265+36144C>T) n.4568C>T c.2916C>T n.2253C>T c.3838C>T c.1806C>T n.9122C>T c.9106C>T (p.Pro3036Ser) c.9028C>T (p.Pro3010Ser) c.6412C>T (p.Pro2138Ser) c.9130C>T (p.Pro3044Ser) c.9127C>T (p.Pro3043Ser) c.9049C>T (p.Pro3017Ser) c.9034C>T (p.Pro3012Ser) c.2248C>T (p.Pro750Ser) c.2227C>T (p.Pro743Ser) n.9125C>T | COSMIC |
5 | g.90712354C>A | CA360396266 | ADGRV1 | c.9110C>A (p.Pro3037Gln) c.265+36145C>A (n.265+36145C>A) n.4569C>A c.2917C>A n.2254C>A c.3839C>A c.1807C>A n.9123C>A c.9107C>A (p.Pro3036Gln) c.9029C>A (p.Pro3010Gln) c.6413C>A (p.Pro2138Gln) c.9131C>A (p.Pro3044Gln) c.9128C>A (p.Pro3043Gln) c.9050C>A (p.Pro3017Gln) c.9035C>A (p.Pro3012Gln) c.2249C>A (p.Pro750Gln) c.2228C>A (p.Pro743Gln) n.9126C>A | gnomAD v4 |
5 | g.90712354C= | CA1562867539 | ADGRV1 | c.9110C= (p.Pro3037=) c.265+36145C= (n.265+36145C=) n.4569C= c.2917C= n.2254C= c.3839C= c.1807C= n.9123C= c.9107C= (p.Pro3036=) c.9029C= (p.Pro3010=) c.6413C= (p.Pro2138=) c.9131C= (p.Pro3044=) c.9128C= (p.Pro3043=) c.9050C= (p.Pro3017=) c.9035C= (p.Pro3012=) c.2249C= (p.Pro750=) c.2228C= (p.Pro743=) n.9126C= | |
5 | g.90712354C>G | CA360396267 | ADGRV1 | c.9110C>G (p.Pro3037Arg) c.265+36145C>G (n.265+36145C>G) n.4569C>G c.2917C>G n.2254C>G c.3839C>G c.1807C>G n.9123C>G c.9107C>G (p.Pro3036Arg) c.9029C>G (p.Pro3010Arg) c.6413C>G (p.Pro2138Arg) c.9131C>G (p.Pro3044Arg) c.9128C>G (p.Pro3043Arg) c.9050C>G (p.Pro3017Arg) c.9035C>G (p.Pro3012Arg) c.2249C>G (p.Pro750Arg) c.2228C>G (p.Pro743Arg) n.9126C>G | |
5 | g.90712354C>T | CA360396268 | ADGRV1 | c.9110C>T (p.Pro3037Leu) c.265+36145C>T (n.265+36145C>T) n.4569C>T c.2917C>T n.2254C>T c.3839C>T c.1807C>T n.9123C>T c.9107C>T (p.Pro3036Leu) c.9029C>T (p.Pro3010Leu) c.6413C>T (p.Pro2138Leu) c.9131C>T (p.Pro3044Leu) c.9128C>T (p.Pro3043Leu) c.9050C>T (p.Pro3017Leu) c.9035C>T (p.Pro3012Leu) c.2249C>T (p.Pro750Leu) c.2228C>T (p.Pro743Leu) n.9126C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
5 | g.90712355A>C | CA445411911 | ADGRV1 | c.9111A>C (p.Pro3037=) c.265+36146A>C (n.265+36146A>C) n.4570A>C c.2918A>C n.2255A>C c.3840A>C c.1808A>C n.9124A>C c.9108A>C (p.Pro3036=) c.9030A>C (p.Pro3010=) c.6414A>C (p.Pro2138=) c.9132A>C (p.Pro3044=) c.9129A>C (p.Pro3043=) c.9051A>C (p.Pro3017=) c.9036A>C (p.Pro3012=) c.2250A>C (p.Pro750=) c.2229A>C (p.Pro743=) n.9127A>C | |
5 | g.90712355A>G | CA445411913 | ADGRV1 | c.9111A>G (p.Pro3037=) c.265+36146A>G (n.265+36146A>G) n.4570A>G c.2918A>G n.2255A>G c.3840A>G c.1808A>G n.9124A>G c.9108A>G (p.Pro3036=) c.9030A>G (p.Pro3010=) c.6414A>G (p.Pro2138=) c.9132A>G (p.Pro3044=) c.9129A>G (p.Pro3043=) c.9051A>G (p.Pro3017=) c.9036A>G (p.Pro3012=) c.2250A>G (p.Pro750=) c.2229A>G (p.Pro743=) n.9127A>G | ClinVar |
5 | g.90712355A>T | CA445411915 | ADGRV1 | c.9111A>T (p.Pro3037=) c.265+36146A>T (n.265+36146A>T) n.4570A>T c.2918A>T n.2255A>T c.3840A>T c.1808A>T n.9124A>T c.9108A>T (p.Pro3036=) c.9030A>T (p.Pro3010=) c.6414A>T (p.Pro2138=) c.9132A>T (p.Pro3044=) c.9129A>T (p.Pro3043=) c.9051A>T (p.Pro3017=) c.9036A>T (p.Pro3012=) c.2250A>T (p.Pro750=) c.2229A>T (p.Pro743=) n.9127A>T | COSMIC |
5 | g.90712356G>A | CA360396269 | ADGRV1 | c.9112G>A (p.Glu3038Lys) c.265+36147G>A (n.265+36147G>A) n.4571G>A c.2919G>A n.2256G>A c.3841G>A c.1809G>A n.9125G>A c.9109G>A (p.Glu3037Lys) c.9031G>A (p.Glu3011Lys) c.6415G>A (p.Glu2139Lys) c.9133G>A (p.Glu3045Lys) c.9130G>A (p.Glu3044Lys) c.9052G>A (p.Glu3018Lys) c.9037G>A (p.Glu3013Lys) c.2251G>A (p.Glu751Lys) c.2230G>A (p.Glu744Lys) n.9128G>A | |
5 | g.90712356G>C | CA360396270 | ADGRV1 | c.9112G>C (p.Glu3038Gln) c.265+36147G>C (n.265+36147G>C) n.4571G>C c.2919G>C n.2256G>C c.3841G>C c.1809G>C n.9125G>C c.9109G>C (p.Glu3037Gln) c.9031G>C (p.Glu3011Gln) c.6415G>C (p.Glu2139Gln) c.9133G>C (p.Glu3045Gln) c.9130G>C (p.Glu3044Gln) c.9052G>C (p.Glu3018Gln) c.9037G>C (p.Glu3013Gln) c.2251G>C (p.Glu751Gln) c.2230G>C (p.Glu744Gln) n.9128G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90712356G= | CA1562867540 | ADGRV1 | c.9112G= (p.Glu3038=) c.265+36147G= (n.265+36147G=) n.4571G= c.2919G= n.2256G= c.3841G= c.1809G= n.9125G= c.9109G= (p.Glu3037=) c.9031G= (p.Glu3011=) c.6415G= (p.Glu2139=) c.9133G= (p.Glu3045=) c.9130G= (p.Glu3044=) c.9052G= (p.Glu3018=) c.9037G= (p.Glu3013=) c.2251G= (p.Glu751=) c.2230G= (p.Glu744=) n.9128G= | |
5 | g.90712356G>T | CA360396271 | ADGRV1 | c.9112G>T (p.Glu3038Ter) c.265+36147G>T (n.265+36147G>T) n.4571G>T c.2919G>T n.2256G>T c.3841G>T c.1809G>T n.9125G>T c.9109G>T (p.Glu3037Ter) c.9031G>T (p.Glu3011Ter) c.6415G>T (p.Glu2139Ter) c.9133G>T (p.Glu3045Ter) c.9130G>T (p.Glu3044Ter) c.9052G>T (p.Glu3018Ter) c.9037G>T (p.Glu3013Ter) c.2251G>T (p.Glu751Ter) c.2230G>T (p.Glu744Ter) n.9128G>T | |
5 | g.90712357A>C | CA360396272 | ADGRV1 | c.9113A>C (p.Glu3038Ala) c.265+36148A>C (n.265+36148A>C) n.4572A>C c.2920A>C n.2257A>C c.3842A>C c.1810A>C n.9126A>C c.9110A>C (p.Glu3037Ala) c.9032A>C (p.Glu3011Ala) c.6416A>C (p.Glu2139Ala) c.9134A>C (p.Glu3045Ala) c.9131A>C (p.Glu3044Ala) c.9053A>C (p.Glu3018Ala) c.9038A>C (p.Glu3013Ala) c.2252A>C (p.Glu751Ala) c.2231A>C (p.Glu744Ala) n.9129A>C | |
5 | g.90712357A>G | CA360396273 | ADGRV1 | c.9113A>G (p.Glu3038Gly) c.265+36148A>G (n.265+36148A>G) n.4572A>G c.2920A>G n.2257A>G c.3842A>G c.1810A>G n.9126A>G c.9110A>G (p.Glu3037Gly) c.9032A>G (p.Glu3011Gly) c.6416A>G (p.Glu2139Gly) c.9134A>G (p.Glu3045Gly) c.9131A>G (p.Glu3044Gly) c.9053A>G (p.Glu3018Gly) c.9038A>G (p.Glu3013Gly) c.2252A>G (p.Glu751Gly) c.2231A>G (p.Glu744Gly) n.9129A>G | gnomAD v4 |
5 | g.90712357A>T | CA360396274 | ADGRV1 | c.9113A>T (p.Glu3038Val) c.265+36148A>T (n.265+36148A>T) n.4572A>T c.2920A>T n.2257A>T c.3842A>T c.1810A>T n.9126A>T c.9110A>T (p.Glu3037Val) c.9032A>T (p.Glu3011Val) c.6416A>T (p.Glu2139Val) c.9134A>T (p.Glu3045Val) c.9131A>T (p.Glu3044Val) c.9053A>T (p.Glu3018Val) c.9038A>T (p.Glu3013Val) c.2252A>T (p.Glu751Val) c.2231A>T (p.Glu744Val) n.9129A>T | |
5 | g.90712358A>C | CA360396276 | ADGRV1 | c.9114A>C (p.Glu3038Asp) c.265+36149A>C (n.265+36149A>C) n.4573A>C c.2921A>C n.2258A>C c.3843A>C c.1811A>C n.9127A>C c.9111A>C (p.Glu3037Asp) c.9033A>C (p.Glu3011Asp) c.6417A>C (p.Glu2139Asp) c.9135A>C (p.Glu3045Asp) c.9132A>C (p.Glu3044Asp) c.9054A>C (p.Glu3018Asp) c.9039A>C (p.Glu3013Asp) c.2253A>C (p.Glu751Asp) c.2232A>C (p.Glu744Asp) n.9130A>C | |
5 | g.90712358A>G | CA445411922 | ADGRV1 | c.9114A>G (p.Glu3038=) c.265+36149A>G (n.265+36149A>G) n.4573A>G c.2921A>G n.2258A>G c.3843A>G c.1811A>G n.9127A>G c.9111A>G (p.Glu3037=) c.9033A>G (p.Glu3011=) c.6417A>G (p.Glu2139=) c.9135A>G (p.Glu3045=) c.9132A>G (p.Glu3044=) c.9054A>G (p.Glu3018=) c.9039A>G (p.Glu3013=) c.2253A>G (p.Glu751=) c.2232A>G (p.Glu744=) n.9130A>G | gnomAD v4 |
5 | g.90712358A>T | CA360396275 | ADGRV1 | c.9114A>T (p.Glu3038Asp) c.265+36149A>T (n.265+36149A>T) n.4573A>T c.2921A>T n.2258A>T c.3843A>T c.1811A>T n.9127A>T c.9111A>T (p.Glu3037Asp) c.9033A>T (p.Glu3011Asp) c.6417A>T (p.Glu2139Asp) c.9135A>T (p.Glu3045Asp) c.9132A>T (p.Glu3044Asp) c.9054A>T (p.Glu3018Asp) c.9039A>T (p.Glu3013Asp) c.2253A>T (p.Glu751Asp) c.2232A>T (p.Glu744Asp) n.9130A>T | |
5 | g.90712359G>A | CA3340444 | ADGRV1 | c.9115G>A (p.Gly3039Arg) c.265+36150G>A (n.265+36150G>A) n.4574G>A c.2922G>A n.2259G>A c.3844G>A c.1812G>A n.9128G>A c.9112G>A (p.Gly3038Arg) c.9034G>A (p.Gly3012Arg) c.6418G>A (p.Gly2140Arg) c.9136G>A (p.Gly3046Arg) c.9133G>A (p.Gly3045Arg) c.9055G>A (p.Gly3019Arg) c.9040G>A (p.Gly3014Arg) c.2254G>A (p.Gly752Arg) c.2233G>A (p.Gly745Arg) n.9131G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90712359G>C | CA360396277 | ADGRV1 | c.9115G>C (p.Gly3039Arg) c.265+36150G>C (n.265+36150G>C) n.4574G>C c.2922G>C n.2259G>C c.3844G>C c.1812G>C n.9128G>C c.9112G>C (p.Gly3038Arg) c.9034G>C (p.Gly3012Arg) c.6418G>C (p.Gly2140Arg) c.9136G>C (p.Gly3046Arg) c.9133G>C (p.Gly3045Arg) c.9055G>C (p.Gly3019Arg) c.9040G>C (p.Gly3014Arg) c.2254G>C (p.Gly752Arg) c.2233G>C (p.Gly745Arg) n.9131G>C | |
5 | g.90712359G= | CA1562867541 | ADGRV1 | c.9115G= (p.Gly3039=) c.265+36150G= (n.265+36150G=) n.4574G= c.2922G= n.2259G= c.3844G= c.1812G= n.9128G= c.9112G= (p.Gly3038=) c.9034G= (p.Gly3012=) c.6418G= (p.Gly2140=) c.9136G= (p.Gly3046=) c.9133G= (p.Gly3045=) c.9055G= (p.Gly3019=) c.9040G= (p.Gly3014=) c.2254G= (p.Gly752=) c.2233G= (p.Gly745=) n.9131G= | |
5 | g.90712359G>T | CA360396278 | ADGRV1 | c.9115G>T (p.Gly3039Ter) c.265+36150G>T (n.265+36150G>T) n.4574G>T c.2922G>T n.2259G>T c.3844G>T c.1812G>T n.9128G>T c.9112G>T (p.Gly3038Ter) c.9034G>T (p.Gly3012Ter) c.6418G>T (p.Gly2140Ter) c.9136G>T (p.Gly3046Ter) c.9133G>T (p.Gly3045Ter) c.9055G>T (p.Gly3019Ter) c.9040G>T (p.Gly3014Ter) c.2254G>T (p.Gly752Ter) c.2233G>T (p.Gly745Ter) n.9131G>T | |
5 | g.90712360G>A | CA360396279 | ADGRV1 | c.9116G>A (p.Gly3039Glu) c.265+36151G>A (n.265+36151G>A) n.4575G>A c.2923G>A n.2260G>A c.3845G>A c.1813G>A n.9129G>A c.9113G>A (p.Gly3038Glu) c.9035G>A (p.Gly3012Glu) c.6419G>A (p.Gly2140Glu) c.9137G>A (p.Gly3046Glu) c.9134G>A (p.Gly3045Glu) c.9056G>A (p.Gly3019Glu) c.9041G>A (p.Gly3014Glu) c.2255G>A (p.Gly752Glu) c.2234G>A (p.Gly745Glu) n.9132G>A | COSMIC |
5 | g.90712360G>C | CA360396280 | ADGRV1 | c.9116G>C (p.Gly3039Ala) c.265+36151G>C (n.265+36151G>C) n.4575G>C c.2923G>C n.2260G>C c.3845G>C c.1813G>C n.9129G>C c.9113G>C (p.Gly3038Ala) c.9035G>C (p.Gly3012Ala) c.6419G>C (p.Gly2140Ala) c.9137G>C (p.Gly3046Ala) c.9134G>C (p.Gly3045Ala) c.9056G>C (p.Gly3019Ala) c.9041G>C (p.Gly3014Ala) c.2255G>C (p.Gly752Ala) c.2234G>C (p.Gly745Ala) n.9132G>C | |
5 | g.90712360G>T | CA360396281 | ADGRV1 | c.9116G>T (p.Gly3039Val) c.265+36151G>T (n.265+36151G>T) n.4575G>T c.2923G>T n.2260G>T c.3845G>T c.1813G>T n.9129G>T c.9113G>T (p.Gly3038Val) c.9035G>T (p.Gly3012Val) c.6419G>T (p.Gly2140Val) c.9137G>T (p.Gly3046Val) c.9134G>T (p.Gly3045Val) c.9056G>T (p.Gly3019Val) c.9041G>T (p.Gly3014Val) c.2255G>T (p.Gly752Val) c.2234G>T (p.Gly745Val) n.9132G>T | gnomAD v4 |
5 | g.90712361A>C | CA445411934 | ADGRV1 | c.9117A>C (p.Gly3039=) c.265+36152A>C (n.265+36152A>C) n.4576A>C c.2924A>C n.2261A>C c.3846A>C c.1814A>C n.9130A>C c.9114A>C (p.Gly3038=) c.9036A>C (p.Gly3012=) c.6420A>C (p.Gly2140=) c.9138A>C (p.Gly3046=) c.9135A>C (p.Gly3045=) c.9057A>C (p.Gly3019=) c.9042A>C (p.Gly3014=) c.2256A>C (p.Gly752=) c.2235A>C (p.Gly745=) n.9133A>C | gnomAD v4 |
5 | g.90712361A>G | CA445411932 | ADGRV1 | c.9117A>G (p.Gly3039=) c.265+36152A>G (n.265+36152A>G) n.4576A>G c.2924A>G n.2261A>G c.3846A>G c.1814A>G n.9130A>G c.9114A>G (p.Gly3038=) c.9036A>G (p.Gly3012=) c.6420A>G (p.Gly2140=) c.9138A>G (p.Gly3046=) c.9135A>G (p.Gly3045=) c.9057A>G (p.Gly3019=) c.9042A>G (p.Gly3014=) c.2256A>G (p.Gly752=) c.2235A>G (p.Gly745=) n.9133A>G | gnomAD v4 |
5 | g.90712361A>T | CA445411931 | ADGRV1 | c.9117A>T (p.Gly3039=) c.265+36152A>T (n.265+36152A>T) n.4576A>T c.2924A>T n.2261A>T c.3846A>T c.1814A>T n.9130A>T c.9114A>T (p.Gly3038=) c.9036A>T (p.Gly3012=) c.6420A>T (p.Gly2140=) c.9138A>T (p.Gly3046=) c.9135A>T (p.Gly3045=) c.9057A>T (p.Gly3019=) c.9042A>T (p.Gly3014=) c.2256A>T (p.Gly752=) c.2235A>T (p.Gly745=) n.9133A>T | |
5 | g.90712362G>A | CA3340445 | ADGRV1 | c.9118G>A (p.Asp3040Asn) c.265+36153G>A (n.265+36153G>A) n.4577G>A c.2925G>A n.2262G>A c.3847G>A c.1815G>A n.9131G>A c.9115G>A (p.Asp3039Asn) c.9037G>A (p.Asp3013Asn) c.6421G>A (p.Asp2141Asn) c.9139G>A (p.Asp3047Asn) c.9136G>A (p.Asp3046Asn) c.9058G>A (p.Asp3020Asn) c.9043G>A (p.Asp3015Asn) c.2257G>A (p.Asp753Asn) c.2236G>A (p.Asp746Asn) n.9134G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90712362G>C | CA360396282 | ADGRV1 | c.9118G>C (p.Asp3040His) c.265+36153G>C (n.265+36153G>C) n.4577G>C c.2925G>C n.2262G>C c.3847G>C c.1815G>C n.9131G>C c.9115G>C (p.Asp3039His) c.9037G>C (p.Asp3013His) c.6421G>C (p.Asp2141His) c.9139G>C (p.Asp3047His) c.9136G>C (p.Asp3046His) c.9058G>C (p.Asp3020His) c.9043G>C (p.Asp3015His) c.2257G>C (p.Asp753His) c.2236G>C (p.Asp746His) n.9134G>C | |
5 | g.90712362G= | CA1562867542 | ADGRV1 | c.9118G= (p.Asp3040=) c.265+36153G= (n.265+36153G=) n.4577G= c.2925G= n.2262G= c.3847G= c.1815G= n.9131G= c.9115G= (p.Asp3039=) c.9037G= (p.Asp3013=) c.6421G= (p.Asp2141=) c.9139G= (p.Asp3047=) c.9136G= (p.Asp3046=) c.9058G= (p.Asp3020=) c.9043G= (p.Asp3015=) c.2257G= (p.Asp753=) c.2236G= (p.Asp746=) n.9134G= | |
5 | g.90712362G>T | CA360396283 | ADGRV1 | c.9118G>T (p.Asp3040Tyr) c.265+36153G>T (n.265+36153G>T) n.4577G>T c.2925G>T n.2262G>T c.3847G>T c.1815G>T n.9131G>T c.9115G>T (p.Asp3039Tyr) c.9037G>T (p.Asp3013Tyr) c.6421G>T (p.Asp2141Tyr) c.9139G>T (p.Asp3047Tyr) c.9136G>T (p.Asp3046Tyr) c.9058G>T (p.Asp3020Tyr) c.9043G>T (p.Asp3015Tyr) c.2257G>T (p.Asp753Tyr) c.2236G>T (p.Asp746Tyr) n.9134G>T | gnomAD v4 |
5 | g.90712363A>C | CA360396284 | ADGRV1 | c.9119A>C (p.Asp3040Ala) c.265+36154A>C (n.265+36154A>C) n.4578A>C c.2926A>C n.2263A>C c.3848A>C c.1816A>C n.9132A>C c.9116A>C (p.Asp3039Ala) c.9038A>C (p.Asp3013Ala) c.6422A>C (p.Asp2141Ala) c.9140A>C (p.Asp3047Ala) c.9137A>C (p.Asp3046Ala) c.9059A>C (p.Asp3020Ala) c.9044A>C (p.Asp3015Ala) c.2258A>C (p.Asp753Ala) c.2237A>C (p.Asp746Ala) n.9135A>C | |
5 | g.90712363A>G | CA360396285 | ADGRV1 | c.9119A>G (p.Asp3040Gly) c.265+36154A>G (n.265+36154A>G) n.4578A>G c.2926A>G n.2263A>G c.3848A>G c.1816A>G n.9132A>G c.9116A>G (p.Asp3039Gly) c.9038A>G (p.Asp3013Gly) c.6422A>G (p.Asp2141Gly) c.9140A>G (p.Asp3047Gly) c.9137A>G (p.Asp3046Gly) c.9059A>G (p.Asp3020Gly) c.9044A>G (p.Asp3015Gly) c.2258A>G (p.Asp753Gly) c.2237A>G (p.Asp746Gly) n.9135A>G | gnomAD v4 |
5 | g.90712363A>T | CA360396286 | ADGRV1 | c.9119A>T (p.Asp3040Val) c.265+36154A>T (n.265+36154A>T) n.4578A>T c.2926A>T n.2263A>T c.3848A>T c.1816A>T n.9132A>T c.9116A>T (p.Asp3039Val) c.9038A>T (p.Asp3013Val) c.6422A>T (p.Asp2141Val) c.9140A>T (p.Asp3047Val) c.9137A>T (p.Asp3046Val) c.9059A>T (p.Asp3020Val) c.9044A>T (p.Asp3015Val) c.2258A>T (p.Asp753Val) c.2237A>T (p.Asp746Val) n.9135A>T | |
5 | g.90712364T>A | CA360396287 | ADGRV1 | c.9120T>A (p.Asp3040Glu) c.265+36155T>A (n.265+36155T>A) n.4579T>A c.2927T>A n.2264T>A c.3849T>A c.1817T>A n.9133T>A c.9117T>A (p.Asp3039Glu) c.9039T>A (p.Asp3013Glu) c.6423T>A (p.Asp2141Glu) c.9141T>A (p.Asp3047Glu) c.9138T>A (p.Asp3046Glu) c.9060T>A (p.Asp3020Glu) c.9045T>A (p.Asp3015Glu) c.2259T>A (p.Asp753Glu) c.2238T>A (p.Asp746Glu) n.9136T>A | |
5 | g.90712364T>C | CA445411941 | ADGRV1 | c.9120T>C (p.Asp3040=) c.265+36155T>C (n.265+36155T>C) n.4579T>C c.2927T>C n.2264T>C c.3849T>C c.1817T>C n.9133T>C c.9117T>C (p.Asp3039=) c.9039T>C (p.Asp3013=) c.6423T>C (p.Asp2141=) c.9141T>C (p.Asp3047=) c.9138T>C (p.Asp3046=) c.9060T>C (p.Asp3020=) c.9045T>C (p.Asp3015=) c.2259T>C (p.Asp753=) c.2238T>C (p.Asp746=) n.9136T>C | ClinVar |
5 | g.90712364T>G | CA3340446 | ADGRV1 | c.9120T>G (p.Asp3040Glu) c.265+36155T>G (n.265+36155T>G) n.4579T>G c.2927T>G n.2264T>G c.3849T>G c.1817T>G n.9133T>G c.9117T>G (p.Asp3039Glu) c.9039T>G (p.Asp3013Glu) c.6423T>G (p.Asp2141Glu) c.9141T>G (p.Asp3047Glu) c.9138T>G (p.Asp3046Glu) c.9060T>G (p.Asp3020Glu) c.9045T>G (p.Asp3015Glu) c.2259T>G (p.Asp753Glu) c.2238T>G (p.Asp746Glu) n.9136T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90712364T= | CA1562867543 | ADGRV1 | c.9120T= (p.Asp3040=) c.265+36155T= (n.265+36155T=) n.4579T= c.2927T= n.2264T= c.3849T= c.1817T= n.9133T= c.9117T= (p.Asp3039=) c.9039T= (p.Asp3013=) c.6423T= (p.Asp2141=) c.9141T= (p.Asp3047=) c.9138T= (p.Asp3046=) c.9060T= (p.Asp3020=) c.9045T= (p.Asp3015=) c.2259T= (p.Asp753=) c.2238T= (p.Asp746=) n.9136T= | |
5 | g.90712365G>A | CA360396288 | ADGRV1 | c.9121G>A (p.Glu3041Lys) c.265+36156G>A (n.265+36156G>A) n.4580G>A c.2928G>A n.2265G>A c.3850G>A c.1818G>A n.9134G>A c.9118G>A (p.Glu3040Lys) c.9040G>A (p.Glu3014Lys) c.6424G>A (p.Glu2142Lys) c.9142G>A (p.Glu3048Lys) c.9139G>A (p.Glu3047Lys) c.9061G>A (p.Glu3021Lys) c.9046G>A (p.Glu3016Lys) c.2260G>A (p.Glu754Lys) c.2239G>A (p.Glu747Lys) n.9137G>A | |
5 | g.90712365G>C | CA360396289 | ADGRV1 | c.9121G>C (p.Glu3041Gln) c.265+36156G>C (n.265+36156G>C) n.4580G>C c.2928G>C n.2265G>C c.3850G>C c.1818G>C n.9134G>C c.9118G>C (p.Glu3040Gln) c.9040G>C (p.Glu3014Gln) c.6424G>C (p.Glu2142Gln) c.9142G>C (p.Glu3048Gln) c.9139G>C (p.Glu3047Gln) c.9061G>C (p.Glu3021Gln) c.9046G>C (p.Glu3016Gln) c.2260G>C (p.Glu754Gln) c.2239G>C (p.Glu747Gln) n.9137G>C | |
5 | g.90712365G>T | CA360396290 | ADGRV1 | c.9121G>T (p.Glu3041Ter) c.265+36156G>T (n.265+36156G>T) n.4580G>T c.2928G>T n.2265G>T c.3850G>T c.1818G>T n.9134G>T c.9118G>T (p.Glu3040Ter) c.9040G>T (p.Glu3014Ter) c.6424G>T (p.Glu2142Ter) c.9142G>T (p.Glu3048Ter) c.9139G>T (p.Glu3047Ter) c.9061G>T (p.Glu3021Ter) c.9046G>T (p.Glu3016Ter) c.2260G>T (p.Glu754Ter) c.2239G>T (p.Glu747Ter) n.9137G>T | gnomAD v4 |
5 | g.90712366A>C | CA360396291 | ADGRV1 | c.9122A>C (p.Glu3041Ala) c.265+36157A>C (n.265+36157A>C) n.4581A>C c.2929A>C n.2266A>C c.3851A>C c.1819A>C n.9135A>C c.9119A>C (p.Glu3040Ala) c.9041A>C (p.Glu3014Ala) c.6425A>C (p.Glu2142Ala) c.9143A>C (p.Glu3048Ala) c.9140A>C (p.Glu3047Ala) c.9062A>C (p.Glu3021Ala) c.9047A>C (p.Glu3016Ala) c.2261A>C (p.Glu754Ala) c.2240A>C (p.Glu747Ala) n.9138A>C | |
5 | g.90712366A>G | CA360396292 | ADGRV1 | c.9122A>G (p.Glu3041Gly) c.265+36157A>G (n.265+36157A>G) n.4581A>G c.2929A>G n.2266A>G c.3851A>G c.1819A>G n.9135A>G c.9119A>G (p.Glu3040Gly) c.9041A>G (p.Glu3014Gly) c.6425A>G (p.Glu2142Gly) c.9143A>G (p.Glu3048Gly) c.9140A>G (p.Glu3047Gly) c.9062A>G (p.Glu3021Gly) c.9047A>G (p.Glu3016Gly) c.2261A>G (p.Glu754Gly) c.2240A>G (p.Glu747Gly) n.9138A>G | |
5 | g.90712366A>T | CA360396293 | ADGRV1 | c.9122A>T (p.Glu3041Val) c.265+36157A>T (n.265+36157A>T) n.4581A>T c.2929A>T n.2266A>T c.3851A>T c.1819A>T n.9135A>T c.9119A>T (p.Glu3040Val) c.9041A>T (p.Glu3014Val) c.6425A>T (p.Glu2142Val) c.9143A>T (p.Glu3048Val) c.9140A>T (p.Glu3047Val) c.9062A>T (p.Glu3021Val) c.9047A>T (p.Glu3016Val) c.2261A>T (p.Glu754Val) c.2240A>T (p.Glu747Val) n.9138A>T | |
5 | g.90712370del | CA2674570152 | ADGRV1 | c.9126del (p.Lys3042AsnfsTer4) c.265+36161del (n.265+36161del) n.4585del c.2933del n.2270del c.3855del c.1823del n.9139del c.9123del (p.Lys3041AsnfsTer4) c.9045del (p.Lys3015AsnfsTer4) c.6429del (p.Lys2143AsnfsTer4) c.9147del (p.Lys3049AsnfsTer4) c.9144del (p.Lys3048AsnfsTer4) c.9066del (p.Lys3022AsnfsTer4) c.9051del (p.Lys3017AsnfsTer4) c.2265del (p.Lys755AsnfsTer4) c.2244del (p.Lys748AsnfsTer4) n.9142del | gnomAD v4 |
5 | g.90712367A>C | CA360396294 | ADGRV1 | c.9123A>C (p.Glu3041Asp) c.265+36158A>C (n.265+36158A>C) n.4582A>C c.2930A>C n.2267A>C c.3852A>C c.1820A>C n.9136A>C c.9120A>C (p.Glu3040Asp) c.9042A>C (p.Glu3014Asp) c.6426A>C (p.Glu2142Asp) c.9144A>C (p.Glu3048Asp) c.9141A>C (p.Glu3047Asp) c.9063A>C (p.Glu3021Asp) c.9048A>C (p.Glu3016Asp) c.2262A>C (p.Glu754Asp) c.2241A>C (p.Glu747Asp) n.9139A>C | |
5 | g.90712367A>G | CA445411952 | ADGRV1 | c.9123A>G (p.Glu3041=) c.265+36158A>G (n.265+36158A>G) n.4582A>G c.2930A>G n.2267A>G c.3852A>G c.1820A>G n.9136A>G c.9120A>G (p.Glu3040=) c.9042A>G (p.Glu3014=) c.6426A>G (p.Glu2142=) c.9144A>G (p.Glu3048=) c.9141A>G (p.Glu3047=) c.9063A>G (p.Glu3021=) c.9048A>G (p.Glu3016=) c.2262A>G (p.Glu754=) c.2241A>G (p.Glu747=) n.9139A>G | gnomAD v4 |
5 | g.90712367A>T | CA360396295 | ADGRV1 | c.9123A>T (p.Glu3041Asp) c.265+36158A>T (n.265+36158A>T) n.4582A>T c.2930A>T n.2267A>T c.3852A>T c.1820A>T n.9136A>T c.9120A>T (p.Glu3040Asp) c.9042A>T (p.Glu3014Asp) c.6426A>T (p.Glu2142Asp) c.9144A>T (p.Glu3048Asp) c.9141A>T (p.Glu3047Asp) c.9063A>T (p.Glu3021Asp) c.9048A>T (p.Glu3016Asp) c.2262A>T (p.Glu754Asp) c.2241A>T (p.Glu747Asp) n.9139A>T | gnomAD v4 |
5 | g.90712368A>C | CA360396296 | ADGRV1 | c.9124A>C (p.Lys3042Gln) c.265+36159A>C (n.265+36159A>C) n.4583A>C c.2931A>C n.2268A>C c.3853A>C c.1821A>C n.9137A>C c.9121A>C (p.Lys3041Gln) c.9043A>C (p.Lys3015Gln) c.6427A>C (p.Lys2143Gln) c.9145A>C (p.Lys3049Gln) c.9142A>C (p.Lys3048Gln) c.9064A>C (p.Lys3022Gln) c.9049A>C (p.Lys3017Gln) c.2263A>C (p.Lys755Gln) c.2242A>C (p.Lys748Gln) n.9140A>C | |
5 | g.90712368A>G | CA360396297 | ADGRV1 | c.9124A>G (p.Lys3042Glu) c.265+36159A>G (n.265+36159A>G) n.4583A>G c.2931A>G n.2268A>G c.3853A>G c.1821A>G n.9137A>G c.9121A>G (p.Lys3041Glu) c.9043A>G (p.Lys3015Glu) c.6427A>G (p.Lys2143Glu) c.9145A>G (p.Lys3049Glu) c.9142A>G (p.Lys3048Glu) c.9064A>G (p.Lys3022Glu) c.9049A>G (p.Lys3017Glu) c.2263A>G (p.Lys755Glu) c.2242A>G (p.Lys748Glu) n.9140A>G | |
5 | g.90712368A>T | CA360396298 | ADGRV1 | c.9124A>T (p.Lys3042Ter) c.265+36159A>T (n.265+36159A>T) n.4583A>T c.2931A>T n.2268A>T c.3853A>T c.1821A>T n.9137A>T c.9121A>T (p.Lys3041Ter) c.9043A>T (p.Lys3015Ter) c.6427A>T (p.Lys2143Ter) c.9145A>T (p.Lys3049Ter) c.9142A>T (p.Lys3048Ter) c.9064A>T (p.Lys3022Ter) c.9049A>T (p.Lys3017Ter) c.2263A>T (p.Lys755Ter) c.2242A>T (p.Lys748Ter) n.9140A>T | |
5 | g.90712369A>C | CA360396301 | ADGRV1 | c.9125A>C (p.Lys3042Thr) c.265+36160A>C (n.265+36160A>C) n.4584A>C c.2932A>C n.2269A>C c.3854A>C c.1822A>C n.9138A>C c.9122A>C (p.Lys3041Thr) c.9044A>C (p.Lys3015Thr) c.6428A>C (p.Lys2143Thr) c.9146A>C (p.Lys3049Thr) c.9143A>C (p.Lys3048Thr) c.9065A>C (p.Lys3022Thr) c.9050A>C (p.Lys3017Thr) c.2264A>C (p.Lys755Thr) c.2243A>C (p.Lys748Thr) n.9141A>C | |
5 | g.90712369A>G | CA360396300 | ADGRV1 | c.9125A>G (p.Lys3042Arg) c.265+36160A>G (n.265+36160A>G) n.4584A>G c.2932A>G n.2269A>G c.3854A>G c.1822A>G n.9138A>G c.9122A>G (p.Lys3041Arg) c.9044A>G (p.Lys3015Arg) c.6428A>G (p.Lys2143Arg) c.9146A>G (p.Lys3049Arg) c.9143A>G (p.Lys3048Arg) c.9065A>G (p.Lys3022Arg) c.9050A>G (p.Lys3017Arg) c.2264A>G (p.Lys755Arg) c.2243A>G (p.Lys748Arg) n.9141A>G | ClinVar |
5 | g.90712369A>T | CA360396299 | ADGRV1 | c.9125A>T (p.Lys3042Ile) c.265+36160A>T (n.265+36160A>T) n.4584A>T c.2932A>T n.2269A>T c.3854A>T c.1822A>T n.9138A>T c.9122A>T (p.Lys3041Ile) c.9044A>T (p.Lys3015Ile) c.6428A>T (p.Lys2143Ile) c.9146A>T (p.Lys3049Ile) c.9143A>T (p.Lys3048Ile) c.9065A>T (p.Lys3022Ile) c.9050A>T (p.Lys3017Ile) c.2264A>T (p.Lys755Ile) c.2243A>T (p.Lys748Ile) n.9141A>T | |
5 | g.90712370A>C | CA360396302 | ADGRV1 | c.9126A>C (p.Lys3042Asn) c.265+36161A>C (n.265+36161A>C) n.4585A>C c.2933A>C n.2270A>C c.3855A>C c.1823A>C n.9139A>C c.9123A>C (p.Lys3041Asn) c.9045A>C (p.Lys3015Asn) c.6429A>C (p.Lys2143Asn) c.9147A>C (p.Lys3049Asn) c.9144A>C (p.Lys3048Asn) c.9066A>C (p.Lys3022Asn) c.9051A>C (p.Lys3017Asn) c.2265A>C (p.Lys755Asn) c.2244A>C (p.Lys748Asn) n.9142A>C | |
5 | g.90712370A>G | CA445411962 | ADGRV1 | c.9126A>G (p.Lys3042=) c.265+36161A>G (n.265+36161A>G) n.4585A>G c.2933A>G n.2270A>G c.3855A>G c.1823A>G n.9139A>G c.9123A>G (p.Lys3041=) c.9045A>G (p.Lys3015=) c.6429A>G (p.Lys2143=) c.9147A>G (p.Lys3049=) c.9144A>G (p.Lys3048=) c.9066A>G (p.Lys3022=) c.9051A>G (p.Lys3017=) c.2265A>G (p.Lys755=) c.2244A>G (p.Lys748=) n.9142A>G | |
5 | g.90712370A>T | CA360396303 | ADGRV1 | c.9126A>T (p.Lys3042Asn) c.265+36161A>T (n.265+36161A>T) n.4585A>T c.2933A>T n.2270A>T c.3855A>T c.1823A>T n.9139A>T c.9123A>T (p.Lys3041Asn) c.9045A>T (p.Lys3015Asn) c.6429A>T (p.Lys2143Asn) c.9147A>T (p.Lys3049Asn) c.9144A>T (p.Lys3048Asn) c.9066A>T (p.Lys3022Asn) c.9051A>T (p.Lys3017Asn) c.2265A>T (p.Lys755Asn) c.2244A>T (p.Lys748Asn) n.9142A>T | |
5 | g.90712371T>A | CA360396304 | ADGRV1 | c.9127T>A (p.Phe3043Ile) c.265+36162T>A (n.265+36162T>A) n.4586T>A c.2934T>A n.2271T>A c.3856T>A c.1824T>A n.9140T>A c.9124T>A (p.Phe3042Ile) c.9046T>A (p.Phe3016Ile) c.6430T>A (p.Phe2144Ile) c.9148T>A (p.Phe3050Ile) c.9145T>A (p.Phe3049Ile) c.9067T>A (p.Phe3023Ile) c.9052T>A (p.Phe3018Ile) c.2266T>A (p.Phe756Ile) c.2245T>A (p.Phe749Ile) n.9143T>A | gnomAD v4 |
5 | g.90712371T>C | CA360396305 | ADGRV1 | c.9127T>C (p.Phe3043Leu) c.265+36162T>C (n.265+36162T>C) n.4586T>C c.2934T>C n.2271T>C c.3856T>C c.1824T>C n.9140T>C c.9124T>C (p.Phe3042Leu) c.9046T>C (p.Phe3016Leu) c.6430T>C (p.Phe2144Leu) c.9148T>C (p.Phe3050Leu) c.9145T>C (p.Phe3049Leu) c.9067T>C (p.Phe3023Leu) c.9052T>C (p.Phe3018Leu) c.2266T>C (p.Phe756Leu) c.2245T>C (p.Phe749Leu) n.9143T>C | |
5 | g.90712371T>G | CA360396306 | ADGRV1 | c.9127T>G (p.Phe3043Val) c.265+36162T>G (n.265+36162T>G) n.4586T>G c.2934T>G n.2271T>G c.3856T>G c.1824T>G n.9140T>G c.9124T>G (p.Phe3042Val) c.9046T>G (p.Phe3016Val) c.6430T>G (p.Phe2144Val) c.9148T>G (p.Phe3050Val) c.9145T>G (p.Phe3049Val) c.9067T>G (p.Phe3023Val) c.9052T>G (p.Phe3018Val) c.2266T>G (p.Phe756Val) c.2245T>G (p.Phe749Val) n.9143T>G | |
5 | g.90712372T>A | CA360396307 | ADGRV1 | c.9128T>A (p.Phe3043Tyr) c.265+36163T>A (n.265+36163T>A) n.4587T>A c.2935T>A n.2272T>A c.3857T>A c.1825T>A n.9141T>A c.9125T>A (p.Phe3042Tyr) c.9047T>A (p.Phe3016Tyr) c.6431T>A (p.Phe2144Tyr) c.9149T>A (p.Phe3050Tyr) c.9146T>A (p.Phe3049Tyr) c.9068T>A (p.Phe3023Tyr) c.9053T>A (p.Phe3018Tyr) c.2267T>A (p.Phe756Tyr) c.2246T>A (p.Phe749Tyr) n.9144T>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90712372T>C | CA360396308 | ADGRV1 | c.9128T>C (p.Phe3043Ser) c.265+36163T>C (n.265+36163T>C) n.4587T>C c.2935T>C n.2272T>C c.3857T>C c.1825T>C n.9141T>C c.9125T>C (p.Phe3042Ser) c.9047T>C (p.Phe3016Ser) c.6431T>C (p.Phe2144Ser) c.9149T>C (p.Phe3050Ser) c.9146T>C (p.Phe3049Ser) c.9068T>C (p.Phe3023Ser) c.9053T>C (p.Phe3018Ser) c.2267T>C (p.Phe756Ser) c.2246T>C (p.Phe749Ser) n.9144T>C | gnomAD v4 |
5 | g.90712372T>G | CA360396309 | ADGRV1 | c.9128T>G (p.Phe3043Cys) c.265+36163T>G (n.265+36163T>G) n.4587T>G c.2935T>G n.2272T>G c.3857T>G c.1825T>G n.9141T>G c.9125T>G (p.Phe3042Cys) c.9047T>G (p.Phe3016Cys) c.6431T>G (p.Phe2144Cys) c.9149T>G (p.Phe3050Cys) c.9146T>G (p.Phe3049Cys) c.9068T>G (p.Phe3023Cys) c.9053T>G (p.Phe3018Cys) c.2267T>G (p.Phe756Cys) c.2246T>G (p.Phe749Cys) n.9144T>G | |
5 | g.90712372T= | CA1562867544 | ADGRV1 | c.9128T= (p.Phe3043=) c.265+36163T= (n.265+36163T=) n.4587T= c.2935T= n.2272T= c.3857T= c.1825T= n.9141T= c.9125T= (p.Phe3042=) c.9047T= (p.Phe3016=) c.6431T= (p.Phe2144=) c.9149T= (p.Phe3050=) c.9146T= (p.Phe3049=) c.9068T= (p.Phe3023=) c.9053T= (p.Phe3018=) c.2267T= (p.Phe756=) c.2246T= (p.Phe749=) n.9144T= | |
5 | g.90712373T>A | CA360396310 | ADGRV1 | c.9129T>A (p.Phe3043Leu) c.265+36164T>A (n.265+36164T>A) n.4588T>A c.2936T>A n.2273T>A c.3858T>A c.1826T>A n.9142T>A c.9126T>A (p.Phe3042Leu) c.9048T>A (p.Phe3016Leu) c.6432T>A (p.Phe2144Leu) c.9150T>A (p.Phe3050Leu) c.9147T>A (p.Phe3049Leu) c.9069T>A (p.Phe3023Leu) c.9054T>A (p.Phe3018Leu) c.2268T>A (p.Phe756Leu) c.2247T>A (p.Phe749Leu) n.9145T>A | |
5 | g.90712373T>C | CA445411970 | ADGRV1 | c.9129T>C (p.Phe3043=) c.265+36164T>C (n.265+36164T>C) n.4588T>C c.2936T>C n.2273T>C c.3858T>C c.1826T>C n.9142T>C c.9126T>C (p.Phe3042=) c.9048T>C (p.Phe3016=) c.6432T>C (p.Phe2144=) c.9150T>C (p.Phe3050=) c.9147T>C (p.Phe3049=) c.9069T>C (p.Phe3023=) c.9054T>C (p.Phe3018=) c.2268T>C (p.Phe756=) c.2247T>C (p.Phe749=) n.9145T>C | gnomAD v4 |
5 | g.90712373T>G | CA360396311 | ADGRV1 | c.9129T>G (p.Phe3043Leu) c.265+36164T>G (n.265+36164T>G) n.4588T>G c.2936T>G n.2273T>G c.3858T>G c.1826T>G n.9142T>G c.9126T>G (p.Phe3042Leu) c.9048T>G (p.Phe3016Leu) c.6432T>G (p.Phe2144Leu) c.9150T>G (p.Phe3050Leu) c.9147T>G (p.Phe3049Leu) c.9069T>G (p.Phe3023Leu) c.9054T>G (p.Phe3018Leu) c.2268T>G (p.Phe756Leu) c.2247T>G (p.Phe749Leu) n.9145T>G | |
5 | g.90712374C>A | CA360396312 | ADGRV1 | c.9130C>A (p.Gln3044Lys) c.265+36165C>A (n.265+36165C>A) n.4589C>A c.2937C>A n.2274C>A c.3859C>A c.1827C>A n.9143C>A c.9127C>A (p.Gln3043Lys) c.9049C>A (p.Gln3017Lys) c.6433C>A (p.Gln2145Lys) c.9151C>A (p.Gln3051Lys) c.9148C>A (p.Gln3050Lys) c.9070C>A (p.Gln3024Lys) c.9055C>A (p.Gln3019Lys) c.2269C>A (p.Gln757Lys) c.2248C>A (p.Gln750Lys) n.9146C>A | gnomAD v4 |
5 | g.90712374C= | CA1562867545 | ADGRV1 | c.9130C= (p.Gln3044=) c.265+36165C= (n.265+36165C=) n.4589C= c.2937C= n.2274C= c.3859C= c.1827C= n.9143C= c.9127C= (p.Gln3043=) c.9049C= (p.Gln3017=) c.6433C= (p.Gln2145=) c.9151C= (p.Gln3051=) c.9148C= (p.Gln3050=) c.9070C= (p.Gln3024=) c.9055C= (p.Gln3019=) c.2269C= (p.Gln757=) c.2248C= (p.Gln750=) n.9146C= | |
5 | g.90712374C>G | CA360396313 | ADGRV1 | c.9130C>G (p.Gln3044Glu) c.265+36165C>G (n.265+36165C>G) n.4589C>G c.2937C>G n.2274C>G c.3859C>G c.1827C>G n.9143C>G c.9127C>G (p.Gln3043Glu) c.9049C>G (p.Gln3017Glu) c.6433C>G (p.Gln2145Glu) c.9151C>G (p.Gln3051Glu) c.9148C>G (p.Gln3050Glu) c.9070C>G (p.Gln3024Glu) c.9055C>G (p.Gln3019Glu) c.2269C>G (p.Gln757Glu) c.2248C>G (p.Gln750Glu) n.9146C>G | COSMIC |
5 | g.90712374C>T | CA360396314 | ADGRV1 | c.9130C>T (p.Gln3044Ter) c.265+36165C>T (n.265+36165C>T) n.4589C>T c.2937C>T n.2274C>T c.3859C>T c.1827C>T n.9143C>T c.9127C>T (p.Gln3043Ter) c.9049C>T (p.Gln3017Ter) c.6433C>T (p.Gln2145Ter) c.9151C>T (p.Gln3051Ter) c.9148C>T (p.Gln3050Ter) c.9070C>T (p.Gln3024Ter) c.9055C>T (p.Gln3019Ter) c.2269C>T (p.Gln757Ter) c.2248C>T (p.Gln750Ter) n.9146C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
5 | g.90712375A= | CA1562867546 | ADGRV1 | c.9131A= (p.Gln3044=) c.265+36166A= (n.265+36166A=) n.4590A= c.2938A= n.2275A= c.3860A= c.1828A= n.9144A= c.9128A= (p.Gln3043=) c.9050A= (p.Gln3017=) c.6434A= (p.Gln2145=) c.9152A= (p.Gln3051=) c.9149A= (p.Gln3050=) c.9071A= (p.Gln3024=) c.9056A= (p.Gln3019=) c.2270A= (p.Gln757=) c.2249A= (p.Gln750=) n.9147A= | |
5 | g.90712375A>C | CA360396315 | ADGRV1 | c.9131A>C (p.Gln3044Pro) c.265+36166A>C (n.265+36166A>C) n.4590A>C c.2938A>C n.2275A>C c.3860A>C c.1828A>C n.9144A>C c.9128A>C (p.Gln3043Pro) c.9050A>C (p.Gln3017Pro) c.6434A>C (p.Gln2145Pro) c.9152A>C (p.Gln3051Pro) c.9149A>C (p.Gln3050Pro) c.9071A>C (p.Gln3024Pro) c.9056A>C (p.Gln3019Pro) c.2270A>C (p.Gln757Pro) c.2249A>C (p.Gln750Pro) n.9147A>C | |
5 | g.90712375A>G | CA360396316 | ADGRV1 | c.9131A>G (p.Gln3044Arg) c.265+36166A>G (n.265+36166A>G) n.4590A>G c.2938A>G n.2275A>G c.3860A>G c.1828A>G n.9144A>G c.9128A>G (p.Gln3043Arg) c.9050A>G (p.Gln3017Arg) c.6434A>G (p.Gln2145Arg) c.9152A>G (p.Gln3051Arg) c.9149A>G (p.Gln3050Arg) c.9071A>G (p.Gln3024Arg) c.9056A>G (p.Gln3019Arg) c.2270A>G (p.Gln757Arg) c.2249A>G (p.Gln750Arg) n.9147A>G | gnomAD v4 |
5 | g.90712375A>T | CA3340447 | ADGRV1 | c.9131A>T (p.Gln3044Leu) c.265+36166A>T (n.265+36166A>T) n.4590A>T c.2938A>T n.2275A>T c.3860A>T c.1828A>T n.9144A>T c.9128A>T (p.Gln3043Leu) c.9050A>T (p.Gln3017Leu) c.6434A>T (p.Gln2145Leu) c.9152A>T (p.Gln3051Leu) c.9149A>T (p.Gln3050Leu) c.9071A>T (p.Gln3024Leu) c.9056A>T (p.Gln3019Leu) c.2270A>T (p.Gln757Leu) c.2249A>T (p.Gln750Leu) n.9147A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90712376G>A | CA122804762 | ADGRV1 | c.9132G>A (p.Gln3044=) c.265+36167G>A (n.265+36167G>A) n.4591G>A c.2939G>A n.2276G>A c.3861G>A c.1829G>A n.9145G>A c.9129G>A (p.Gln3043=) c.9051G>A (p.Gln3017=) c.6435G>A (p.Gln2145=) c.9153G>A (p.Gln3051=) c.9150G>A (p.Gln3050=) c.9072G>A (p.Gln3024=) c.9057G>A (p.Gln3019=) c.2271G>A (p.Gln757=) c.2250G>A (p.Gln750=) n.9148G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.90712376G>C | CA360396318 | ADGRV1 | c.9132G>C (p.Gln3044His) c.265+36167G>C (n.265+36167G>C) n.4591G>C c.2939G>C n.2276G>C c.3861G>C c.1829G>C n.9145G>C c.9129G>C (p.Gln3043His) c.9051G>C (p.Gln3017His) c.6435G>C (p.Gln2145His) c.9153G>C (p.Gln3051His) c.9150G>C (p.Gln3050His) c.9072G>C (p.Gln3024His) c.9057G>C (p.Gln3019His) c.2271G>C (p.Gln757His) c.2250G>C (p.Gln750His) n.9148G>C | |
5 | g.90712376G= | CA1562867547 | ADGRV1 | c.9132G= (p.Gln3044=) c.265+36167G= (n.265+36167G=) n.4591G= c.2939G= n.2276G= c.3861G= c.1829G= n.9145G= c.9129G= (p.Gln3043=) c.9051G= (p.Gln3017=) c.6435G= (p.Gln2145=) c.9153G= (p.Gln3051=) c.9150G= (p.Gln3050=) c.9072G= (p.Gln3024=) c.9057G= (p.Gln3019=) c.2271G= (p.Gln757=) c.2250G= (p.Gln750=) n.9148G= | |
5 | g.90712376G>T | CA360396317 | ADGRV1 | c.9132G>T (p.Gln3044His) c.265+36167G>T (n.265+36167G>T) n.4591G>T c.2939G>T n.2276G>T c.3861G>T c.1829G>T n.9145G>T c.9129G>T (p.Gln3043His) c.9051G>T (p.Gln3017His) c.6435G>T (p.Gln2145His) c.9153G>T (p.Gln3051His) c.9150G>T (p.Gln3050His) c.9072G>T (p.Gln3024His) c.9057G>T (p.Gln3019His) c.2271G>T (p.Gln757His) c.2250G>T (p.Gln750His) n.9148G>T | gnomAD v4 |
5 | g.90712377C>A | CA360396319 | ADGRV1 | c.9133C>A (p.Leu3045Met) c.265+36168C>A (n.265+36168C>A) n.4592C>A c.2940C>A n.2277C>A c.3862C>A c.1830C>A n.9146C>A c.9130C>A (p.Leu3044Met) c.9052C>A (p.Leu3018Met) c.6436C>A (p.Leu2146Met) n.469G>T c.9154C>A (p.Leu3052Met) c.9151C>A (p.Leu3051Met) c.9073C>A (p.Leu3025Met) c.9058C>A (p.Leu3020Met) c.2272C>A (p.Leu758Met) c.2251C>A (p.Leu751Met) n.9149C>A | gnomAD v4 |
5 | g.90712377C>G | CA360396320 | ADGRV1 | c.9133C>G (p.Leu3045Val) c.265+36168C>G (n.265+36168C>G) n.4592C>G c.2940C>G n.2277C>G c.3862C>G c.1830C>G n.9146C>G c.9130C>G (p.Leu3044Val) c.9052C>G (p.Leu3018Val) c.6436C>G (p.Leu2146Val) n.469G>C c.9154C>G (p.Leu3052Val) c.9151C>G (p.Leu3051Val) c.9073C>G (p.Leu3025Val) c.9058C>G (p.Leu3020Val) c.2272C>G (p.Leu758Val) c.2251C>G (p.Leu751Val) n.9149C>G | |
5 | g.90712377C>T | CA445411981 | ADGRV1 | c.9133C>T (p.Leu3045=) c.265+36168C>T (n.265+36168C>T) n.4592C>T c.2940C>T n.2277C>T c.3862C>T c.1830C>T n.9146C>T c.9130C>T (p.Leu3044=) c.9052C>T (p.Leu3018=) c.6436C>T (p.Leu2146=) n.469G>A c.9154C>T (p.Leu3052=) c.9151C>T (p.Leu3051=) c.9073C>T (p.Leu3025=) c.9058C>T (p.Leu3020=) c.2272C>T (p.Leu758=) c.2251C>T (p.Leu751=) n.9149C>T | gnomAD v4 |
5 | g.90712378T>A | CA360396321 | ADGRV1 | c.9134T>A (p.Leu3045Gln) c.265+36169T>A (n.265+36169T>A) n.4593T>A c.2941T>A n.2278T>A c.3863T>A c.1831T>A n.9147T>A c.9131T>A (p.Leu3044Gln) c.9053T>A (p.Leu3018Gln) c.6437T>A (p.Leu2146Gln) n.468A>T c.9155T>A (p.Leu3052Gln) c.9152T>A (p.Leu3051Gln) c.9074T>A (p.Leu3025Gln) c.9059T>A (p.Leu3020Gln) c.2273T>A (p.Leu758Gln) c.2252T>A (p.Leu751Gln) n.9150T>A | |
5 | g.90712378T>C | CA360396322 | ADGRV1 | c.9134T>C (p.Leu3045Pro) c.265+36169T>C (n.265+36169T>C) n.4593T>C c.2941T>C n.2278T>C c.3863T>C c.1831T>C n.9147T>C c.9131T>C (p.Leu3044Pro) c.9053T>C (p.Leu3018Pro) c.6437T>C (p.Leu2146Pro) n.468A>G c.9155T>C (p.Leu3052Pro) c.9152T>C (p.Leu3051Pro) c.9074T>C (p.Leu3025Pro) c.9059T>C (p.Leu3020Pro) c.2273T>C (p.Leu758Pro) c.2252T>C (p.Leu751Pro) n.9150T>C | dbSNP gnomAD v3 gnomAD v4 |
5 | g.90712378T>G | CA360396323 | ADGRV1 | c.9134T>G (p.Leu3045Arg) c.265+36169T>G (n.265+36169T>G) n.4593T>G c.2941T>G n.2278T>G c.3863T>G c.1831T>G n.9147T>G c.9131T>G (p.Leu3044Arg) c.9053T>G (p.Leu3018Arg) c.6437T>G (p.Leu2146Arg) n.468A>C c.9155T>G (p.Leu3052Arg) c.9152T>G (p.Leu3051Arg) c.9074T>G (p.Leu3025Arg) c.9059T>G (p.Leu3020Arg) c.2273T>G (p.Leu758Arg) c.2252T>G (p.Leu751Arg) n.9150T>G | |
5 | g.90712378T= | CA1562867548 | ADGRV1 | c.9134T= (p.Leu3045=) c.265+36169T= (n.265+36169T=) n.4593T= c.2941T= n.2278T= c.3863T= c.1831T= n.9147T= c.9131T= (p.Leu3044=) c.9053T= (p.Leu3018=) c.6437T= (p.Leu2146=) n.468A= c.9155T= (p.Leu3052=) c.9152T= (p.Leu3051=) c.9074T= (p.Leu3025=) c.9059T= (p.Leu3020=) c.2273T= (p.Leu758=) c.2252T= (p.Leu751=) n.9150T= | |
5 | g.90712379G>A | CA445411989 | ADGRV1 | c.9135G>A (p.Leu3045=) c.265+36170G>A (n.265+36170G>A) n.4594G>A c.2942G>A n.2279G>A c.3864G>A c.1832G>A n.9148G>A c.9132G>A (p.Leu3044=) c.9054G>A (p.Leu3018=) c.6438G>A (p.Leu2146=) n.467C>T c.9156G>A (p.Leu3052=) c.9153G>A (p.Leu3051=) c.9075G>A (p.Leu3025=) c.9060G>A (p.Leu3020=) c.2274G>A (p.Leu758=) c.2253G>A (p.Leu751=) n.9151G>A | gnomAD v4 |
5 | g.90712379G>C | CA445411990 | ADGRV1 | c.9135G>C (p.Leu3045=) c.265+36170G>C (n.265+36170G>C) n.4594G>C c.2942G>C n.2279G>C c.3864G>C c.1832G>C n.9148G>C c.9132G>C (p.Leu3044=) c.9054G>C (p.Leu3018=) c.6438G>C (p.Leu2146=) n.467C>G c.9156G>C (p.Leu3052=) c.9153G>C (p.Leu3051=) c.9075G>C (p.Leu3025=) c.9060G>C (p.Leu3020=) c.2274G>C (p.Leu758=) c.2253G>C (p.Leu751=) n.9151G>C | |
5 | g.90712379G= | CA1562867549 | ADGRV1 | c.9135G= (p.Leu3045=) c.265+36170G= (n.265+36170G=) n.4594G= c.2942G= n.2279G= c.3864G= c.1832G= n.9148G= c.9132G= (p.Leu3044=) c.9054G= (p.Leu3018=) c.6438G= (p.Leu2146=) n.467C= c.9156G= (p.Leu3052=) c.9153G= (p.Leu3051=) c.9075G= (p.Leu3025=) c.9060G= (p.Leu3020=) c.2274G= (p.Leu758=) c.2253G= (p.Leu751=) n.9151G= | |
5 | g.90712379G>T | CA3340448 | ADGRV1 | c.9135G>T (p.Leu3045=) c.265+36170G>T (n.265+36170G>T) n.4594G>T c.2942G>T n.2279G>T c.3864G>T c.1832G>T n.9148G>T c.9132G>T (p.Leu3044=) c.9054G>T (p.Leu3018=) c.6438G>T (p.Leu2146=) n.467C>A c.9156G>T (p.Leu3052=) c.9153G>T (p.Leu3051=) c.9075G>T (p.Leu3025=) c.9060G>T (p.Leu3020=) c.2274G>T (p.Leu758=) c.2253G>T (p.Leu751=) n.9151G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90712380A= | CA1562867550 | ADGRV1 | c.9136A= (p.Ile3046=) c.265+36171A= (n.265+36171A=) n.4595A= c.2943A= n.2280A= c.3865A= c.1833A= n.9149A= c.9133A= (p.Ile3045=) c.9055A= (p.Ile3019=) c.6439A= (p.Ile2147=) n.466T= c.9157A= (p.Ile3053=) c.9154A= (p.Ile3052=) c.9076A= (p.Ile3026=) c.9061A= (p.Ile3021=) c.2275A= (p.Ile759=) c.2254A= (p.Ile752=) n.9152A= | |
5 | g.90712380A>C | CA360396324 | ADGRV1 | c.9136A>C (p.Ile3046Leu) c.265+36171A>C (n.265+36171A>C) n.4595A>C c.2943A>C n.2280A>C c.3865A>C c.1833A>C n.9149A>C c.9133A>C (p.Ile3045Leu) c.9055A>C (p.Ile3019Leu) c.6439A>C (p.Ile2147Leu) n.466T>G c.9157A>C (p.Ile3053Leu) c.9154A>C (p.Ile3052Leu) c.9076A>C (p.Ile3026Leu) c.9061A>C (p.Ile3021Leu) c.2275A>C (p.Ile759Leu) c.2254A>C (p.Ile752Leu) n.9152A>C | |
5 | g.90712380A>G | CA3340449 | ADGRV1 | c.9136A>G (p.Ile3046Val) c.265+36171A>G (n.265+36171A>G) n.4595A>G c.2943A>G n.2280A>G c.3865A>G c.1833A>G n.9149A>G c.9133A>G (p.Ile3045Val) c.9055A>G (p.Ile3019Val) c.6439A>G (p.Ile2147Val) n.466T>C c.9157A>G (p.Ile3053Val) c.9154A>G (p.Ile3052Val) c.9076A>G (p.Ile3026Val) c.9061A>G (p.Ile3021Val) c.2275A>G (p.Ile759Val) c.2254A>G (p.Ile752Val) n.9152A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90712380A>T | CA360396325 | ADGRV1 | c.9136A>T (p.Ile3046Phe) c.265+36171A>T (n.265+36171A>T) n.4595A>T c.2943A>T n.2280A>T c.3865A>T c.1833A>T n.9149A>T c.9133A>T (p.Ile3045Phe) c.9055A>T (p.Ile3019Phe) c.6439A>T (p.Ile2147Phe) n.466T>A c.9157A>T (p.Ile3053Phe) c.9154A>T (p.Ile3052Phe) c.9076A>T (p.Ile3026Phe) c.9061A>T (p.Ile3021Phe) c.2275A>T (p.Ile759Phe) c.2254A>T (p.Ile752Phe) n.9152A>T | |
5 | g.90712381T>A | CA360396326 | ADGRV1 | c.9137T>A (p.Ile3046Asn) c.265+36172T>A (n.265+36172T>A) n.4596T>A c.2944T>A n.2281T>A c.3866T>A c.1834T>A n.9150T>A c.9134T>A (p.Ile3045Asn) c.9056T>A (p.Ile3019Asn) c.6440T>A (p.Ile2147Asn) n.465A>T c.9158T>A (p.Ile3053Asn) c.9155T>A (p.Ile3052Asn) c.9077T>A (p.Ile3026Asn) c.9062T>A (p.Ile3021Asn) c.2276T>A (p.Ile759Asn) c.2255T>A (p.Ile752Asn) n.9153T>A | |
5 | g.90712381T>C | CA360396327 | ADGRV1 | c.9137T>C (p.Ile3046Thr) c.265+36172T>C (n.265+36172T>C) n.4596T>C c.2944T>C n.2281T>C c.3866T>C c.1834T>C n.9150T>C c.9134T>C (p.Ile3045Thr) c.9056T>C (p.Ile3019Thr) c.6440T>C (p.Ile2147Thr) n.465A>G c.9158T>C (p.Ile3053Thr) c.9155T>C (p.Ile3052Thr) c.9077T>C (p.Ile3026Thr) c.9062T>C (p.Ile3021Thr) c.2276T>C (p.Ile759Thr) c.2255T>C (p.Ile752Thr) n.9153T>C | gnomAD v4 |
5 | g.90712381T>G | CA360396328 | ADGRV1 | c.9137T>G (p.Ile3046Ser) c.265+36172T>G (n.265+36172T>G) n.4596T>G c.2944T>G n.2281T>G c.3866T>G c.1834T>G n.9150T>G c.9134T>G (p.Ile3045Ser) c.9056T>G (p.Ile3019Ser) c.6440T>G (p.Ile2147Ser) n.465A>C c.9158T>G (p.Ile3053Ser) c.9155T>G (p.Ile3052Ser) c.9077T>G (p.Ile3026Ser) c.9062T>G (p.Ile3021Ser) c.2276T>G (p.Ile759Ser) c.2255T>G (p.Ile752Ser) n.9153T>G | |
5 | g.90712382T>A | CA445411998 | ADGRV1 | c.9138T>A (p.Ile3046=) c.265+36173T>A (n.265+36173T>A) n.4597T>A c.2945T>A n.2282T>A c.3867T>A c.1835T>A n.9151T>A c.9135T>A (p.Ile3045=) c.9057T>A (p.Ile3019=) c.6441T>A (p.Ile2147=) n.464A>T c.9159T>A (p.Ile3053=) c.9156T>A (p.Ile3052=) c.9078T>A (p.Ile3026=) c.9063T>A (p.Ile3021=) c.2277T>A (p.Ile759=) c.2256T>A (p.Ile752=) n.9154T>A | |
5 | g.90712382T>C | CA445412000 | ADGRV1 | c.9138T>C (p.Ile3046=) c.265+36173T>C (n.265+36173T>C) n.4597T>C c.2945T>C n.2282T>C c.3867T>C c.1835T>C n.9151T>C c.9135T>C (p.Ile3045=) c.9057T>C (p.Ile3019=) c.6441T>C (p.Ile2147=) n.464A>G c.9159T>C (p.Ile3053=) c.9156T>C (p.Ile3052=) c.9078T>C (p.Ile3026=) c.9063T>C (p.Ile3021=) c.2277T>C (p.Ile759=) c.2256T>C (p.Ile752=) n.9154T>C | |
5 | g.90712382T>G | CA360396329 | ADGRV1 | c.9138T>G (p.Ile3046Met) c.265+36173T>G (n.265+36173T>G) n.4597T>G c.2945T>G n.2282T>G c.3867T>G c.1835T>G n.9151T>G c.9135T>G (p.Ile3045Met) c.9057T>G (p.Ile3019Met) c.6441T>G (p.Ile2147Met) n.464A>C c.9159T>G (p.Ile3053Met) c.9156T>G (p.Ile3052Met) c.9078T>G (p.Ile3026Met) c.9063T>G (p.Ile3021Met) c.2277T>G (p.Ile759Met) c.2256T>G (p.Ile752Met) n.9154T>G | |
5 | g.90712383T>A | CA360396330 | ADGRV1 | c.9139T>A (p.Leu3047Ile) c.265+36174T>A (n.265+36174T>A) n.4598T>A c.2946T>A n.2283T>A c.3868T>A c.1836T>A n.9152T>A c.9136T>A (p.Leu3046Ile) c.9058T>A (p.Leu3020Ile) c.6442T>A (p.Leu2148Ile) n.463A>T c.9160T>A (p.Leu3054Ile) c.9157T>A (p.Leu3053Ile) c.9079T>A (p.Leu3027Ile) c.9064T>A (p.Leu3022Ile) c.2278T>A (p.Leu760Ile) c.2257T>A (p.Leu753Ile) n.9155T>A | |
5 | g.90712383T>C | CA445412005 | ADGRV1 | c.9139T>C (p.Leu3047=) c.265+36174T>C (n.265+36174T>C) n.4598T>C c.2946T>C n.2283T>C c.3868T>C c.1836T>C n.9152T>C c.9136T>C (p.Leu3046=) c.9058T>C (p.Leu3020=) c.6442T>C (p.Leu2148=) n.463A>G c.9160T>C (p.Leu3054=) c.9157T>C (p.Leu3053=) c.9079T>C (p.Leu3027=) c.9064T>C (p.Leu3022=) c.2278T>C (p.Leu760=) c.2257T>C (p.Leu753=) n.9155T>C | |
5 | g.90712383T>G | CA360396331 | ADGRV1 | c.9139T>G (p.Leu3047Val) c.265+36174T>G (n.265+36174T>G) n.4598T>G c.2946T>G n.2283T>G c.3868T>G c.1836T>G n.9152T>G c.9136T>G (p.Leu3046Val) c.9058T>G (p.Leu3020Val) c.6442T>G (p.Leu2148Val) n.463A>C c.9160T>G (p.Leu3054Val) c.9157T>G (p.Leu3053Val) c.9079T>G (p.Leu3027Val) c.9064T>G (p.Leu3022Val) c.2278T>G (p.Leu760Val) c.2257T>G (p.Leu753Val) n.9155T>G | |
5 | g.90712384T>A | CA360396332 | ADGRV1 | c.9140T>A (p.Leu3047Ter) c.265+36175T>A (n.265+36175T>A) n.4599T>A c.2947T>A n.2284T>A c.3869T>A c.1837T>A n.9153T>A c.9137T>A (p.Leu3046Ter) c.9059T>A (p.Leu3020Ter) c.6443T>A (p.Leu2148Ter) n.462A>T c.9161T>A (p.Leu3054Ter) c.9158T>A (p.Leu3053Ter) c.9080T>A (p.Leu3027Ter) c.9065T>A (p.Leu3022Ter) c.2279T>A (p.Leu760Ter) c.2258T>A (p.Leu753Ter) n.9156T>A | |
5 | g.90712384T>C | CA360396333 | ADGRV1 | c.9140T>C (p.Leu3047Ser) c.265+36175T>C (n.265+36175T>C) n.4599T>C c.2947T>C n.2284T>C c.3869T>C c.1837T>C n.9153T>C c.9137T>C (p.Leu3046Ser) c.9059T>C (p.Leu3020Ser) c.6443T>C (p.Leu2148Ser) n.462A>G c.9161T>C (p.Leu3054Ser) c.9158T>C (p.Leu3053Ser) c.9080T>C (p.Leu3027Ser) c.9065T>C (p.Leu3022Ser) c.2279T>C (p.Leu760Ser) c.2258T>C (p.Leu753Ser) n.9156T>C | gnomAD v4 |
5 | g.90712384T>G | CA122804764 | ADGRV1 | c.9140T>G (p.Leu3047Ter) c.265+36175T>G (n.265+36175T>G) n.4599T>G c.2947T>G n.2284T>G c.3869T>G c.1837T>G n.9153T>G c.9137T>G (p.Leu3046Ter) c.9059T>G (p.Leu3020Ter) c.6443T>G (p.Leu2148Ter) n.462A>C c.9161T>G (p.Leu3054Ter) c.9158T>G (p.Leu3053Ter) c.9080T>G (p.Leu3027Ter) c.9065T>G (p.Leu3022Ter) c.2279T>G (p.Leu760Ter) c.2258T>G (p.Leu753Ter) n.9156T>G | dbSNP gnomAD v4 |
5 | g.90712384T= | CA1562867551 | ADGRV1 | c.9140T= (p.Leu3047=) c.265+36175T= (n.265+36175T=) n.4599T= c.2947T= n.2284T= c.3869T= c.1837T= n.9153T= c.9137T= (p.Leu3046=) c.9059T= (p.Leu3020=) c.6443T= (p.Leu2148=) n.462A= c.9161T= (p.Leu3054=) c.9158T= (p.Leu3053=) c.9080T= (p.Leu3027=) c.9065T= (p.Leu3022=) c.2279T= (p.Leu760=) c.2258T= (p.Leu753=) n.9156T= | |
5 | g.90712385A= | CA1562867552 | ADGRV1 | c.9141A= (p.Leu3047=) c.265+36176A= (n.265+36176A=) n.4600A= c.2948A= n.2285A= c.3870A= c.1838A= n.9154A= c.9138A= (p.Leu3046=) c.9060A= (p.Leu3020=) c.6444A= (p.Leu2148=) n.461T= c.9162A= (p.Leu3054=) c.9159A= (p.Leu3053=) c.9081A= (p.Leu3027=) c.9066A= (p.Leu3022=) c.2280A= (p.Leu760=) c.2259A= (p.Leu753=) n.9157A= | |
5 | g.90712385A>C | CA360396334 | ADGRV1 | c.9141A>C (p.Leu3047Phe) c.265+36176A>C (n.265+36176A>C) n.4600A>C c.2948A>C n.2285A>C c.3870A>C c.1838A>C n.9154A>C c.9138A>C (p.Leu3046Phe) c.9060A>C (p.Leu3020Phe) c.6444A>C (p.Leu2148Phe) n.461T>G c.9162A>C (p.Leu3054Phe) c.9159A>C (p.Leu3053Phe) c.9081A>C (p.Leu3027Phe) c.9066A>C (p.Leu3022Phe) c.2280A>C (p.Leu760Phe) c.2259A>C (p.Leu753Phe) n.9157A>C | |
5 | g.90712385A>G | CA445412014 | ADGRV1 | c.9141A>G (p.Leu3047=) c.265+36176A>G (n.265+36176A>G) n.4600A>G c.2948A>G n.2285A>G c.3870A>G c.1838A>G n.9154A>G c.9138A>G (p.Leu3046=) c.9060A>G (p.Leu3020=) c.6444A>G (p.Leu2148=) n.461T>C c.9162A>G (p.Leu3054=) c.9159A>G (p.Leu3053=) c.9081A>G (p.Leu3027=) c.9066A>G (p.Leu3022=) c.2280A>G (p.Leu760=) c.2259A>G (p.Leu753=) n.9157A>G | |
5 | g.90712385A>T | CA3340450 | ADGRV1 | c.9141A>T (p.Leu3047Phe) c.265+36176A>T (n.265+36176A>T) n.4600A>T c.2948A>T n.2285A>T c.3870A>T c.1838A>T n.9154A>T c.9138A>T (p.Leu3046Phe) c.9060A>T (p.Leu3020Phe) c.6444A>T (p.Leu2148Phe) n.461T>A c.9162A>T (p.Leu3054Phe) c.9159A>T (p.Leu3053Phe) c.9081A>T (p.Leu3027Phe) c.9066A>T (p.Leu3022Phe) c.2280A>T (p.Leu760Phe) c.2259A>T (p.Leu753Phe) n.9157A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90712386A>C | CA360396335 | ADGRV1 | c.9142A>C (p.Thr3048Pro) c.265+36177A>C (n.265+36177A>C) n.4601A>C c.2949A>C n.2286A>C c.3871A>C c.1839A>C n.9155A>C c.9139A>C (p.Thr3047Pro) c.9061A>C (p.Thr3021Pro) c.6445A>C (p.Thr2149Pro) n.460T>G c.9163A>C (p.Thr3055Pro) c.9160A>C (p.Thr3054Pro) c.9082A>C (p.Thr3028Pro) c.9067A>C (p.Thr3023Pro) c.2281A>C (p.Thr761Pro) c.2260A>C (p.Thr754Pro) n.9158A>C | |
5 | g.90712386A>G | CA360396336 | ADGRV1 | c.9142A>G (p.Thr3048Ala) c.265+36177A>G (n.265+36177A>G) n.4601A>G c.2949A>G n.2286A>G c.3871A>G c.1839A>G n.9155A>G c.9139A>G (p.Thr3047Ala) c.9061A>G (p.Thr3021Ala) c.6445A>G (p.Thr2149Ala) n.460T>C c.9163A>G (p.Thr3055Ala) c.9160A>G (p.Thr3054Ala) c.9082A>G (p.Thr3028Ala) c.9067A>G (p.Thr3023Ala) c.2281A>G (p.Thr761Ala) c.2260A>G (p.Thr754Ala) n.9158A>G | |
5 | g.90712386A>T | CA360396337 | ADGRV1 | c.9142A>T (p.Thr3048Ser) c.265+36177A>T (n.265+36177A>T) n.4601A>T c.2949A>T n.2286A>T c.3871A>T c.1839A>T n.9155A>T c.9139A>T (p.Thr3047Ser) c.9061A>T (p.Thr3021Ser) c.6445A>T (p.Thr2149Ser) n.460T>A c.9163A>T (p.Thr3055Ser) c.9160A>T (p.Thr3054Ser) c.9082A>T (p.Thr3028Ser) c.9067A>T (p.Thr3023Ser) c.2281A>T (p.Thr761Ser) c.2260A>T (p.Thr754Ser) n.9158A>T | |
5 | g.90712387C>A | CA360396338 | ADGRV1 | c.9143C>A (p.Thr3048Lys) c.265+36178C>A (n.265+36178C>A) n.4602C>A c.2950C>A n.2287C>A c.3872C>A c.1840C>A n.9156C>A c.9140C>A (p.Thr3047Lys) c.9062C>A (p.Thr3021Lys) c.6446C>A (p.Thr2149Lys) n.459G>T c.9164C>A (p.Thr3055Lys) c.9161C>A (p.Thr3054Lys) c.9083C>A (p.Thr3028Lys) c.9068C>A (p.Thr3023Lys) c.2282C>A (p.Thr761Lys) c.2261C>A (p.Thr754Lys) n.9159C>A | gnomAD v4 |
5 | g.90712387C= | CA1562867553 | ADGRV1 | c.9143C= (p.Thr3048=) c.265+36178C= (n.265+36178C=) n.4602C= c.2950C= n.2287C= c.3872C= c.1840C= n.9156C= c.9140C= (p.Thr3047=) c.9062C= (p.Thr3021=) c.6446C= (p.Thr2149=) n.459G= c.9164C= (p.Thr3055=) c.9161C= (p.Thr3054=) c.9083C= (p.Thr3028=) c.9068C= (p.Thr3023=) c.2282C= (p.Thr761=) c.2261C= (p.Thr754=) n.9159C= | |
5 | g.90712387C>G | CA360396339 | ADGRV1 | c.9143C>G (p.Thr3048Arg) c.265+36178C>G (n.265+36178C>G) n.4602C>G c.2950C>G n.2287C>G c.3872C>G c.1840C>G n.9156C>G c.9140C>G (p.Thr3047Arg) c.9062C>G (p.Thr3021Arg) c.6446C>G (p.Thr2149Arg) n.459G>C c.9164C>G (p.Thr3055Arg) c.9161C>G (p.Thr3054Arg) c.9083C>G (p.Thr3028Arg) c.9068C>G (p.Thr3023Arg) c.2282C>G (p.Thr761Arg) c.2261C>G (p.Thr754Arg) n.9159C>G | ClinVar dbSNP gnomAD v4 |
5 | g.90712387C>T | CA360396340 | ADGRV1 | c.9143C>T (p.Thr3048Ile) c.265+36178C>T (n.265+36178C>T) n.4602C>T c.2950C>T n.2287C>T c.3872C>T c.1840C>T n.9156C>T c.9140C>T (p.Thr3047Ile) c.9062C>T (p.Thr3021Ile) c.6446C>T (p.Thr2149Ile) n.459G>A c.9164C>T (p.Thr3055Ile) c.9161C>T (p.Thr3054Ile) c.9083C>T (p.Thr3028Ile) c.9068C>T (p.Thr3023Ile) c.2282C>T (p.Thr761Ile) c.2261C>T (p.Thr754Ile) n.9159C>T | gnomAD v4 |
5 | g.90712388A>C | CA445412024 | ADGRV1 | c.9144A>C (p.Thr3048=) c.265+36179A>C (n.265+36179A>C) n.4603A>C c.2951A>C n.2288A>C c.3873A>C c.1841A>C n.9157A>C c.9141A>C (p.Thr3047=) c.9063A>C (p.Thr3021=) c.6447A>C (p.Thr2149=) n.458T>G c.9165A>C (p.Thr3055=) c.9162A>C (p.Thr3054=) c.9084A>C (p.Thr3028=) c.9069A>C (p.Thr3023=) c.2283A>C (p.Thr761=) c.2262A>C (p.Thr754=) n.9160A>C | |
5 | g.90712388A>G | CA445412028 | ADGRV1 | c.9144A>G (p.Thr3048=) c.265+36179A>G (n.265+36179A>G) n.4603A>G c.2951A>G n.2288A>G c.3873A>G c.1841A>G n.9157A>G c.9141A>G (p.Thr3047=) c.9063A>G (p.Thr3021=) c.6447A>G (p.Thr2149=) n.458T>C c.9165A>G (p.Thr3055=) c.9162A>G (p.Thr3054=) c.9084A>G (p.Thr3028=) c.9069A>G (p.Thr3023=) c.2283A>G (p.Thr761=) c.2262A>G (p.Thr754=) n.9160A>G | |
5 | g.90712388A>T | CA445412026 | ADGRV1 | c.9144A>T (p.Thr3048=) c.265+36179A>T (n.265+36179A>T) n.4603A>T c.2951A>T n.2288A>T c.3873A>T c.1841A>T n.9157A>T c.9141A>T (p.Thr3047=) c.9063A>T (p.Thr3021=) c.6447A>T (p.Thr2149=) n.458T>A c.9165A>T (p.Thr3055=) c.9162A>T (p.Thr3054=) c.9084A>T (p.Thr3028=) c.9069A>T (p.Thr3023=) c.2283A>T (p.Thr761=) c.2262A>T (p.Thr754=) n.9160A>T | |
5 | g.90712389A>C | CA360396343 | ADGRV1 | c.9145A>C (p.Asn3049His) c.265+36180A>C (n.265+36180A>C) n.4604A>C c.2952A>C n.2289A>C c.3874A>C c.1842A>C n.9158A>C c.9142A>C (p.Asn3048His) c.9064A>C (p.Asn3022His) c.6448A>C (p.Asn2150His) n.457T>G c.9166A>C (p.Asn3056His) c.9163A>C (p.Asn3055His) c.9085A>C (p.Asn3029His) c.9070A>C (p.Asn3024His) c.2284A>C (p.Asn762His) c.2263A>C (p.Asn755His) n.9161A>C | |
5 | g.90712389A>G | CA360396342 | ADGRV1 | c.9145A>G (p.Asn3049Asp) c.265+36180A>G (n.265+36180A>G) n.4604A>G c.2952A>G n.2289A>G c.3874A>G c.1842A>G n.9158A>G c.9142A>G (p.Asn3048Asp) c.9064A>G (p.Asn3022Asp) c.6448A>G (p.Asn2150Asp) n.457T>C c.9166A>G (p.Asn3056Asp) c.9163A>G (p.Asn3055Asp) c.9085A>G (p.Asn3029Asp) c.9070A>G (p.Asn3024Asp) c.2284A>G (p.Asn762Asp) c.2263A>G (p.Asn755Asp) n.9161A>G | gnomAD v4 |
5 | g.90712389A>T | CA360396341 | ADGRV1 | c.9145A>T (p.Asn3049Tyr) c.265+36180A>T (n.265+36180A>T) n.4604A>T c.2952A>T n.2289A>T c.3874A>T c.1842A>T n.9158A>T c.9142A>T (p.Asn3048Tyr) c.9064A>T (p.Asn3022Tyr) c.6448A>T (p.Asn2150Tyr) n.457T>A c.9166A>T (p.Asn3056Tyr) c.9163A>T (p.Asn3055Tyr) c.9085A>T (p.Asn3029Tyr) c.9070A>T (p.Asn3024Tyr) c.2284A>T (p.Asn762Tyr) c.2263A>T (p.Asn755Tyr) n.9161A>T | |
5 | g.90712390A= | CA1562867554 | ADGRV1 | c.9146A= (p.Asn3049=) c.265+36181A= (n.265+36181A=) n.4605A= c.2953A= n.2290A= c.3875A= c.1843A= n.9159A= c.9143A= (p.Asn3048=) c.9065A= (p.Asn3022=) c.6449A= (p.Asn2150=) n.456T= c.9167A= (p.Asn3056=) c.9164A= (p.Asn3055=) c.9086A= (p.Asn3029=) c.9071A= (p.Asn3024=) c.2285A= (p.Asn762=) c.2264A= (p.Asn755=) n.9162A= | |
5 | g.90712390A>C | CA360396344 | ADGRV1 | c.9146A>C (p.Asn3049Thr) c.265+36181A>C (n.265+36181A>C) n.4605A>C c.2953A>C n.2290A>C c.3875A>C c.1843A>C n.9159A>C c.9143A>C (p.Asn3048Thr) c.9065A>C (p.Asn3022Thr) c.6449A>C (p.Asn2150Thr) n.456T>G c.9167A>C (p.Asn3056Thr) c.9164A>C (p.Asn3055Thr) c.9086A>C (p.Asn3029Thr) c.9071A>C (p.Asn3024Thr) c.2285A>C (p.Asn762Thr) c.2264A>C (p.Asn755Thr) n.9162A>C | |
5 | g.90712390A>G | CA360396345 | ADGRV1 | c.9146A>G (p.Asn3049Ser) c.265+36181A>G (n.265+36181A>G) n.4605A>G c.2953A>G n.2290A>G c.3875A>G c.1843A>G n.9159A>G c.9143A>G (p.Asn3048Ser) c.9065A>G (p.Asn3022Ser) c.6449A>G (p.Asn2150Ser) n.456T>C c.9167A>G (p.Asn3056Ser) c.9164A>G (p.Asn3055Ser) c.9086A>G (p.Asn3029Ser) c.9071A>G (p.Asn3024Ser) c.2285A>G (p.Asn762Ser) c.2264A>G (p.Asn755Ser) n.9162A>G | dbSNP |
5 | g.90712390A>T | CA360396346 | ADGRV1 | c.9146A>T (p.Asn3049Ile) c.265+36181A>T (n.265+36181A>T) n.4605A>T c.2953A>T n.2290A>T c.3875A>T c.1843A>T n.9159A>T c.9143A>T (p.Asn3048Ile) c.9065A>T (p.Asn3022Ile) c.6449A>T (p.Asn2150Ile) n.456T>A c.9167A>T (p.Asn3056Ile) c.9164A>T (p.Asn3055Ile) c.9086A>T (p.Asn3029Ile) c.9071A>T (p.Asn3024Ile) c.2285A>T (p.Asn762Ile) c.2264A>T (p.Asn755Ile) n.9162A>T | |
5 | g.90712391T>A | CA360396347 | ADGRV1 | c.9147T>A (p.Asn3049Lys) c.265+36182T>A (n.265+36182T>A) n.4606T>A c.2954T>A n.2291T>A c.3876T>A c.1844T>A n.9160T>A c.9144T>A (p.Asn3048Lys) c.9066T>A (p.Asn3022Lys) c.6450T>A (p.Asn2150Lys) n.455A>T c.9168T>A (p.Asn3056Lys) c.9165T>A (p.Asn3055Lys) c.9087T>A (p.Asn3029Lys) c.9072T>A (p.Asn3024Lys) c.2286T>A (p.Asn762Lys) c.2265T>A (p.Asn755Lys) n.9163T>A | |
5 | g.90712391T>C | CA445412036 | ADGRV1 | c.9147T>C (p.Asn3049=) c.265+36182T>C (n.265+36182T>C) n.4606T>C c.2954T>C n.2291T>C c.3876T>C c.1844T>C n.9160T>C c.9144T>C (p.Asn3048=) c.9066T>C (p.Asn3022=) c.6450T>C (p.Asn2150=) n.455A>G c.9168T>C (p.Asn3056=) c.9165T>C (p.Asn3055=) c.9087T>C (p.Asn3029=) c.9072T>C (p.Asn3024=) c.2286T>C (p.Asn762=) c.2265T>C (p.Asn755=) n.9163T>C | gnomAD v4 |
5 | g.90712391T>G | CA360396348 | ADGRV1 | c.9147T>G (p.Asn3049Lys) c.265+36182T>G (n.265+36182T>G) n.4606T>G c.2954T>G n.2291T>G c.3876T>G c.1844T>G n.9160T>G c.9144T>G (p.Asn3048Lys) c.9066T>G (p.Asn3022Lys) c.6450T>G (p.Asn2150Lys) n.455A>C c.9168T>G (p.Asn3056Lys) c.9165T>G (p.Asn3055Lys) c.9087T>G (p.Asn3029Lys) c.9072T>G (p.Asn3024Lys) c.2286T>G (p.Asn762Lys) c.2265T>G (p.Asn755Lys) n.9163T>G | |
5 | g.90712392_90712411dup | CA2674570180 | ADGRV1 | c.9148_9167dup (p.Gly3057LeufsTer5) c.265+36183_265+36202dup (n.265+36183_265+36202dup) n.4607_4626dup c.2955_2974dup n.2292_2311dup c.3877_3896dup c.1845_1864dup n.9161_9180dup c.9145_9164dup (p.Gly3056LeufsTer5) c.9067_9086dup (p.Gly3030LeufsTer5) c.6451_6470dup (p.Gly2158LeufsTer5) n.437-1_455dup c.9169_9188dup (p.Gly3064LeufsTer5) c.9166_9185dup (p.Gly3063LeufsTer5) c.9088_9107dup (p.Gly3037LeufsTer5) c.9073_9092dup (p.Gly3032LeufsTer5) c.2287_2306dup (p.Gly770LeufsTer5) c.2266_2285dup (p.Gly763LeufsTer5) n.9164_9183dup | gnomAD v4 |
5 | g.90712392C>A | CA360396350 | ADGRV1 | c.9148C>A (p.Pro3050Thr) c.265+36183C>A (n.265+36183C>A) n.4607C>A c.2955C>A n.2292C>A c.3877C>A c.1845C>A n.9161C>A c.9145C>A (p.Pro3049Thr) c.9067C>A (p.Pro3023Thr) c.6451C>A (p.Pro2151Thr) n.454G>T c.9169C>A (p.Pro3057Thr) c.9166C>A (p.Pro3056Thr) c.9088C>A (p.Pro3030Thr) c.9073C>A (p.Pro3025Thr) c.2287C>A (p.Pro763Thr) c.2266C>A (p.Pro756Thr) n.9164C>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90712392C= | CA1562867555 | ADGRV1 | c.9148C= (p.Pro3050=) c.265+36183C= (n.265+36183C=) n.4607C= c.2955C= n.2292C= c.3877C= c.1845C= n.9161C= c.9145C= (p.Pro3049=) c.9067C= (p.Pro3023=) c.6451C= (p.Pro2151=) n.454G= c.9169C= (p.Pro3057=) c.9166C= (p.Pro3056=) c.9088C= (p.Pro3030=) c.9073C= (p.Pro3025=) c.2287C= (p.Pro763=) c.2266C= (p.Pro756=) n.9164C= | |
5 | g.90712392C>G | CA360396349 | ADGRV1 | c.9148C>G (p.Pro3050Ala) c.265+36183C>G (n.265+36183C>G) n.4607C>G c.2955C>G n.2292C>G c.3877C>G c.1845C>G n.9161C>G c.9145C>G (p.Pro3049Ala) c.9067C>G (p.Pro3023Ala) c.6451C>G (p.Pro2151Ala) n.454G>C c.9169C>G (p.Pro3057Ala) c.9166C>G (p.Pro3056Ala) c.9088C>G (p.Pro3030Ala) c.9073C>G (p.Pro3025Ala) c.2287C>G (p.Pro763Ala) c.2266C>G (p.Pro756Ala) n.9164C>G | |
5 | g.90712392C>T | CA122804767 | ADGRV1 | c.9148C>T (p.Pro3050Ser) c.265+36183C>T (n.265+36183C>T) n.4607C>T c.2955C>T n.2292C>T c.3877C>T c.1845C>T n.9161C>T c.9145C>T (p.Pro3049Ser) c.9067C>T (p.Pro3023Ser) c.6451C>T (p.Pro2151Ser) n.454G>A c.9169C>T (p.Pro3057Ser) c.9166C>T (p.Pro3056Ser) c.9088C>T (p.Pro3030Ser) c.9073C>T (p.Pro3025Ser) c.2287C>T (p.Pro763Ser) c.2266C>T (p.Pro756Ser) n.9164C>T | dbSNP COSMIC |
5 | g.90712392_90712395delinsCCTT | CA1562867556 | ADGRV1 | c.9148_9151delinsCCTT (p.Pro3050=) c.265+36183_265+36186delinsCCTT (n.265+36183_265+36186delinsCCTT) n.4607_4610delinsCCTT c.2955_2958delinsCCTT n.2292_2295delinsCCTT c.3877_3880delinsCCTT c.1845_1848delinsCCTT n.9161_9164delinsCCTT c.9145_9148delinsCCTT (p.Pro3049=) c.9067_9070delinsCCTT (p.Pro3023=) c.6451_6454delinsCCTT (p.Pro2151=) n.451_454delinsAAGG c.9169_9172delinsCCTT (p.Pro3057=) c.9166_9169delinsCCTT (p.Pro3056=) c.9088_9091delinsCCTT (p.Pro3030=) c.9073_9076delinsCCTT (p.Pro3025=) c.2287_2290delinsCCTT (p.Pro763=) c.2266_2269delinsCCTT (p.Pro756=) n.9164_9167delinsCCTT | |
5 | g.90712393C>A | CA360396351 | ADGRV1 | c.9149C>A (p.Pro3050His) c.265+36184C>A (n.265+36184C>A) n.4608C>A c.2956C>A n.2293C>A c.3878C>A c.1846C>A n.9162C>A c.9146C>A (p.Pro3049His) c.9068C>A (p.Pro3023His) c.6452C>A (p.Pro2151His) n.453G>T c.9170C>A (p.Pro3057His) c.9167C>A (p.Pro3056His) c.9089C>A (p.Pro3030His) c.9074C>A (p.Pro3025His) c.2288C>A (p.Pro763His) c.2267C>A (p.Pro756His) n.9165C>A | gnomAD v4 |
5 | g.90712393C>G | CA360396352 | ADGRV1 | c.9149C>G (p.Pro3050Arg) c.265+36184C>G (n.265+36184C>G) n.4608C>G c.2956C>G n.2293C>G c.3878C>G c.1846C>G n.9162C>G c.9146C>G (p.Pro3049Arg) c.9068C>G (p.Pro3023Arg) c.6452C>G (p.Pro2151Arg) n.453G>C c.9170C>G (p.Pro3057Arg) c.9167C>G (p.Pro3056Arg) c.9089C>G (p.Pro3030Arg) c.9074C>G (p.Pro3025Arg) c.2288C>G (p.Pro763Arg) c.2267C>G (p.Pro756Arg) n.9165C>G | |
5 | g.90712393C>T | CA360396353 | ADGRV1 | c.9149C>T (p.Pro3050Leu) c.265+36184C>T (n.265+36184C>T) n.4608C>T c.2956C>T n.2293C>T c.3878C>T c.1846C>T n.9162C>T c.9146C>T (p.Pro3049Leu) c.9068C>T (p.Pro3023Leu) c.6452C>T (p.Pro2151Leu) n.453G>A c.9170C>T (p.Pro3057Leu) c.9167C>T (p.Pro3056Leu) c.9089C>T (p.Pro3030Leu) c.9074C>T (p.Pro3025Leu) c.2288C>T (p.Pro763Leu) c.2267C>T (p.Pro756Leu) n.9165C>T | gnomAD v4 COSMIC |
5 | g.90712395_90712397del | CA917526326 | ADGRV1 | c.9151_9153del (p.Ser3051del) c.265+36186_265+36188del (n.265+36186_265+36188del) n.4610_4612del c.2958_2960del n.2295_2297del c.3880_3882del c.1848_1850del n.9164_9166del c.9148_9150del (p.Ser3050del) c.9070_9072del (p.Ser3024del) c.6454_6456del (p.Ser2152del) n.451_453del c.9172_9174del (p.Ser3058del) c.9169_9171del (p.Ser3057del) c.9091_9093del (p.Ser3031del) c.9076_9078del (p.Ser3026del) c.2290_2292del (p.Ser764del) c.2269_2271del (p.Ser757del) n.9167_9169del | dbSNP gnomAD v3 gnomAD v4 |
5 | g.90712394T>A | CA445412046 | ADGRV1 | c.9150T>A (p.Pro3050=) c.265+36185T>A (n.265+36185T>A) n.4609T>A c.2957T>A n.2294T>A c.3879T>A c.1847T>A n.9163T>A c.9147T>A (p.Pro3049=) c.9069T>A (p.Pro3023=) c.6453T>A (p.Pro2151=) n.452A>T c.9171T>A (p.Pro3057=) c.9168T>A (p.Pro3056=) c.9090T>A (p.Pro3030=) c.9075T>A (p.Pro3025=) c.2289T>A (p.Pro763=) c.2268T>A (p.Pro756=) n.9166T>A | |
5 | g.90712394T>C | CA445412048 | ADGRV1 | c.9150T>C (p.Pro3050=) c.265+36185T>C (n.265+36185T>C) n.4609T>C c.2957T>C n.2294T>C c.3879T>C c.1847T>C n.9163T>C c.9147T>C (p.Pro3049=) c.9069T>C (p.Pro3023=) c.6453T>C (p.Pro2151=) n.452A>G c.9171T>C (p.Pro3057=) c.9168T>C (p.Pro3056=) c.9090T>C (p.Pro3030=) c.9075T>C (p.Pro3025=) c.2289T>C (p.Pro763=) c.2268T>C (p.Pro756=) n.9166T>C | |
5 | g.90712394T>G | CA445412047 | ADGRV1 | c.9150T>G (p.Pro3050=) c.265+36185T>G (n.265+36185T>G) n.4609T>G c.2957T>G n.2294T>G c.3879T>G c.1847T>G n.9163T>G c.9147T>G (p.Pro3049=) c.9069T>G (p.Pro3023=) c.6453T>G (p.Pro2151=) n.452A>C c.9171T>G (p.Pro3057=) c.9168T>G (p.Pro3056=) c.9090T>G (p.Pro3030=) c.9075T>G (p.Pro3025=) c.2289T>G (p.Pro763=) c.2268T>G (p.Pro756=) n.9166T>G |