Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.108896848_108896855del | CA2577065477 | EDAR,RANBP2 | c.*55_*62del (n.*55_*62del) c.8370+123802_8370+123809del (n.8370+123802_8370+123809del) | |
2 | g.108896851A>C | CA2660593189 | EDAR,RANBP2 | c.*56T>G (n.*56T>G) c.8370+123805A>C (n.8370+123805A>C) | gnomAD v4 |
2 | g.108896852G>A | CA914451796 | EDAR,RANBP2 | c.*55C>T (n.*55C>T) c.8370+123806G>A (n.8370+123806G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896852G>C | CA2660593192 | EDAR,RANBP2 | c.*55C>G (n.*55C>G) c.8370+123806G>C (n.8370+123806G>C) | gnomAD v4 |
2 | g.108896852G= | CA1278354157 | EDAR,RANBP2 | c.*55C= (n.*55C=) c.8370+123806G= (n.8370+123806G=) | |
2 | g.108896852G>T | CA2660593194 | EDAR,RANBP2 | c.*55C>A (n.*55C>A) c.8370+123806G>T (n.8370+123806G>T) | gnomAD v4 |
2 | g.108896853A= | CA1278354158 | EDAR,RANBP2 | c.*54T= (n.*54T=) c.8370+123807A= (n.8370+123807A=) | |
2 | g.108896853A>G | CA1278354159 | EDAR,RANBP2 | c.*54T>C (n.*54T>C) c.8370+123807A>G (n.8370+123807A>G) | dbSNP gnomAD v4 |
2 | g.108896854G>A | CA2660593199 | EDAR,RANBP2 | c.*53C>T (n.*53C>T) c.8370+123808G>A (n.8370+123808G>A) | gnomAD v4 |
2 | g.108896854G>T | CA2660593201 | EDAR,RANBP2 | c.*53C>A (n.*53C>A) c.8370+123808G>T (n.8370+123808G>T) | gnomAD v4 |
2 | g.108896855C>A | CA2660593202 | EDAR,RANBP2 | c.*52G>T (n.*52G>T) c.8370+123809C>A (n.8370+123809C>A) | gnomAD v4 |
2 | g.108896855C>T | CA2660593203 | EDAR,RANBP2 | c.*52G>A (n.*52G>A) c.8370+123809C>T (n.8370+123809C>T) | gnomAD v4 |
2 | g.108896857del | CA2577065480 | EDAR,RANBP2 | c.*52del (n.*52del) c.8370+123811del (n.8370+123811del) | |
2 | g.108896856C>A | CA1824772 | EDAR,RANBP2 | c.*51G>T (n.*51G>T) c.8370+123810C>A (n.8370+123810C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896856C= | CA1278354160 | EDAR,RANBP2 | c.*51G= (n.*51G=) c.8370+123810C= (n.8370+123810C=) | |
2 | g.108896857C>A | CA2660593208 | EDAR,RANBP2 | c.*50G>T (n.*50G>T) c.8370+123811C>A (n.8370+123811C>A) | gnomAD v4 |
2 | g.108896857C= | CA1278354161 | EDAR,RANBP2 | c.*50G= (n.*50G=) c.8370+123811C= (n.8370+123811C=) | |
2 | g.108896857C>T | CA754955485 | EDAR,RANBP2 | c.*50G>A (n.*50G>A) c.8370+123811C>T (n.8370+123811C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108896859C>A | CA2660593210 | EDAR,RANBP2 | c.*48G>T (n.*48G>T) c.8370+123813C>A (n.8370+123813C>A) | gnomAD v4 |
2 | g.108896859C= | CA1278354162 | EDAR,RANBP2 | c.*48G= (n.*48G=) c.8370+123813C= (n.8370+123813C=) | |
2 | g.108896859C>T | CA1824773 | EDAR,RANBP2 | c.*48G>A (n.*48G>A) c.8370+123813C>T (n.8370+123813C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896860G>A | CA1824774 | EDAR,RANBP2 | c.*47C>T (n.*47C>T) c.8370+123814G>A (n.8370+123814G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896860G>C | CA2577065481 | EDAR,RANBP2 | c.*47C>G (n.*47C>G) c.8370+123814G>C (n.8370+123814G>C) | gnomAD v4 |
2 | g.108896860G= | CA1278354163 | EDAR,RANBP2 | c.*47C= (n.*47C=) c.8370+123814G= (n.8370+123814G=) | |
2 | g.108896860G>T | CA2660593212 | EDAR,RANBP2 | c.*47C>A (n.*47C>A) c.8370+123814G>T (n.8370+123814G>T) | gnomAD v4 |
2 | g.108896861T>C | CA53464563 | EDAR,RANBP2 | c.*46A>G (n.*46A>G) c.8370+123815T>C (n.8370+123815T>C) | dbSNP gnomAD v4 |
2 | g.108896861T= | CA1278354164 | EDAR,RANBP2 | c.*46A= (n.*46A=) c.8370+123815T= (n.8370+123815T=) | |
2 | g.108896863G>T | CA2660593214 | EDAR,RANBP2 | c.*44C>A (n.*44C>A) c.8370+123817G>T (n.8370+123817G>T) | gnomAD v4 |
2 | g.108896864G>T | CA2577065482 | EDAR,RANBP2 | c.*43C>A (n.*43C>A) c.8370+123818G>T (n.8370+123818G>T) | gnomAD v4 |
2 | g.108896865C>A | CA249809 | EDAR,RANBP2 | c.*42G>T (n.*42G>T) c.8370+123819C>A (n.8370+123819C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896865C= | CA1278354165 | EDAR,RANBP2 | c.*42G= (n.*42G=) c.8370+123819C= (n.8370+123819C=) | |
2 | g.108896865C>G | CA754955492 | EDAR,RANBP2 | c.*42G>C (n.*42G>C) c.8370+123819C>G (n.8370+123819C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108896865C>T | CA2581817406 | EDAR,RANBP2 | c.*42G>A (n.*42G>A) c.8370+123819C>T (n.8370+123819C>T) | gnomAD v4 |
2 | g.108896865_108896866insA | CA2660593218 | EDAR,RANBP2 | c.*41_*42insT (n.*41_*42insT) c.8370+123819_8370+123820insA (n.8370+123819_8370+123820insA) | gnomAD v4 |
2 | g.108896867C>A | CA2577065486 | EDAR,RANBP2 | c.*40G>T (n.*40G>T) c.8370+123821C>A (n.8370+123821C>A) | gnomAD v4 |
2 | g.108896867C= | CA1278354166 | EDAR,RANBP2 | c.*40G= (n.*40G=) c.8370+123821C= (n.8370+123821C=) | |
2 | g.108896867C>G | CA1278354167 | EDAR,RANBP2 | c.*40G>C (n.*40G>C) c.8370+123821C>G (n.8370+123821C>G) | dbSNP |
2 | g.108896868C>A | CA2660593220 | EDAR,RANBP2 | c.*39G>T (n.*39G>T) c.8370+123822C>A (n.8370+123822C>A) | gnomAD v4 |
2 | g.108896868C= | CA1278354168 | EDAR,RANBP2 | c.*39G= (n.*39G=) c.8370+123822C= (n.8370+123822C=) | |
2 | g.108896868C>T | CA535593597 | EDAR,RANBP2 | c.*39G>A (n.*39G>A) c.8370+123822C>T (n.8370+123822C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108896870T>G | CA2577065487 | EDAR,RANBP2 | c.*37A>C (n.*37A>C) c.8370+123824T>G (n.8370+123824T>G) | |
2 | g.108896871G>C | CA2660593221 | EDAR,RANBP2 | c.*36C>G (n.*36C>G) c.8370+123825G>C (n.8370+123825G>C) | gnomAD v4 |
2 | g.108896871G>T | CA2660593222 | EDAR,RANBP2 | c.*36C>A (n.*36C>A) c.8370+123825G>T (n.8370+123825G>T) | gnomAD v4 |
2 | g.108896872G>T | CA2660593223 | EDAR,RANBP2 | c.*35C>A (n.*35C>A) c.8370+123826G>T (n.8370+123826G>T) | gnomAD v4 |
2 | g.108896873C= | CA1278354169 | EDAR,RANBP2 | c.*34G= (n.*34G=) c.8370+123827C= (n.8370+123827C=) | |
2 | g.108896873C>G | CA2660593224 | EDAR,RANBP2 | c.*34G>C (n.*34G>C) c.8370+123827C>G (n.8370+123827C>G) | gnomAD v4 |
2 | g.108896873C>T | CA535593598 | EDAR,RANBP2 | c.*34G>A (n.*34G>A) c.8370+123827C>T (n.8370+123827C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896875T>C | CA2660593226 | EDAR,RANBP2 | c.*32A>G (n.*32A>G) c.8370+123829T>C (n.8370+123829T>C) | gnomAD v4 |
2 | g.108896876G>A | CA1278354171 | EDAR,RANBP2 | c.*31C>T (n.*31C>T) c.8370+123830G>A (n.8370+123830G>A) | dbSNP gnomAD v4 |
2 | g.108896876G>C | CA2660593229 | EDAR,RANBP2 | c.*31C>G (n.*31C>G) c.8370+123830G>C (n.8370+123830G>C) | gnomAD v4 |
2 | g.108896876G= | CA1278354170 | EDAR,RANBP2 | c.*31C= (n.*31C=) c.8370+123830G= (n.8370+123830G=) | |
2 | g.108896876G>T | CA2521066207 | EDAR,RANBP2 | c.*31C>A (n.*31C>A) c.8370+123830G>T (n.8370+123830G>T) | gnomAD v4 |
2 | g.108896878C>A | CA2660593232 | EDAR,RANBP2 | c.*29G>T (n.*29G>T) c.8370+123832C>A (n.8370+123832C>A) | gnomAD v4 |
2 | g.108896878C>T | CA2660593234 | EDAR,RANBP2 | c.*29G>A (n.*29G>A) c.8370+123832C>T (n.8370+123832C>T) | gnomAD v4 |
2 | g.108896879C>A | CA2660593235 | EDAR,RANBP2 | c.*28G>T (n.*28G>T) c.8370+123833C>A (n.8370+123833C>A) | gnomAD v4 |
2 | g.108896879C>T | CA2660593238 | EDAR,RANBP2 | c.*28G>A (n.*28G>A) c.8370+123833C>T (n.8370+123833C>T) | gnomAD v4 |
2 | g.108896880T>C | CA2660593239 | EDAR,RANBP2 | c.*27A>G (n.*27A>G) c.8370+123834T>C (n.8370+123834T>C) | gnomAD v4 |
2 | g.108896881G>A | CA2660593247 | EDAR,RANBP2 | c.*26C>T (n.*26C>T) c.8370+123835G>A (n.8370+123835G>A) | gnomAD v4 |
2 | g.108896881G>C | CA1824775 | EDAR,RANBP2 | c.*26C>G (n.*26C>G) c.8370+123835G>C (n.8370+123835G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108896881G= | CA1278354172 | EDAR,RANBP2 | c.*26C= (n.*26C=) c.8370+123835G= (n.8370+123835G=) | |
2 | g.108896881G>T | CA2577065488 | EDAR,RANBP2 | c.*26C>A (n.*26C>A) c.8370+123835G>T (n.8370+123835G>T) | gnomAD v4 |
2 | g.108896883del | CA2660593243 | EDAR,RANBP2 | c.*26del (n.*26del) c.8370+123837del (n.8370+123837del) | gnomAD v4 |
2 | g.108896882G>A | CA2603223506 | EDAR,RANBP2 | c.*25C>T (n.*25C>T) c.8370+123836G>A (n.8370+123836G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108896883G>A | CA2660593252 | EDAR,RANBP2 | c.*24C>T (n.*24C>T) c.8370+123837G>A (n.8370+123837G>A) | gnomAD v4 |
2 | g.108896883G>C | CA535593600 | EDAR,RANBP2 | c.*24C>G (n.*24C>G) c.8370+123837G>C (n.8370+123837G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108896883G= | CA1278354173 | EDAR,RANBP2 | c.*24C= (n.*24C=) c.8370+123837G= (n.8370+123837G=) | |
2 | g.108896884A>G | CA2660593257 | EDAR,RANBP2 | c.*23T>C (n.*23T>C) c.8370+123838A>G (n.8370+123838A>G) | gnomAD v4 |
2 | g.108896885G>T | CA2660593260 | EDAR,RANBP2 | c.*22C>A (n.*22C>A) c.8370+123839G>T (n.8370+123839G>T) | gnomAD v4 |
2 | g.108896886G>A | CA535593601 | EDAR,RANBP2 | c.*21C>T (n.*21C>T) c.8370+123840G>A (n.8370+123840G>A) | dbSNP gnomAD v2 |
2 | g.108896886G= | CA1278354174 | EDAR,RANBP2 | c.*21C= (n.*21C=) c.8370+123840G= (n.8370+123840G=) | |
2 | g.108896886G>T | CA2660593261 | EDAR,RANBP2 | c.*21C>A (n.*21C>A) c.8370+123840G>T (n.8370+123840G>T) | gnomAD v4 |
2 | g.108896888C= | CA1278354175 | EDAR,RANBP2 | c.*19G= (n.*19G=) c.8370+123842C= (n.8370+123842C=) | |
2 | g.108896888C>G | CA1278354176 | EDAR,RANBP2 | c.*19G>C (n.*19G>C) c.8370+123842C>G (n.8370+123842C>G) | dbSNP |
2 | g.108896888C>T | CA53464573 | EDAR,RANBP2 | c.*19G>A (n.*19G>A) c.8370+123842C>T (n.8370+123842C>T) | dbSNP gnomAD v4 |
2 | g.108896890G>A | CA2519613081 | EDAR,RANBP2 | c.*17C>T (n.*17C>T) c.8370+123844G>A (n.8370+123844G>A) | |
2 | g.108896890G>T | CA2660593264 | EDAR,RANBP2 | c.*17C>A (n.*17C>A) c.8370+123844G>T (n.8370+123844G>T) | gnomAD v4 |
2 | g.108896891C>A | CA2660593268 | EDAR,RANBP2 | c.*16G>T (n.*16G>T) c.8370+123845C>A (n.8370+123845C>A) | gnomAD v4 |
2 | g.108896891C= | CA1278354177 | EDAR,RANBP2 | c.*16G= (n.*16G=) c.8370+123845C= (n.8370+123845C=) | |
2 | g.108896891C>G | CA1824776 | EDAR,RANBP2 | c.*16G>C (n.*16G>C) c.8370+123845C>G (n.8370+123845C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896892C>A | CA2660593270 | EDAR,RANBP2 | c.*15G>T (n.*15G>T) c.8370+123846C>A (n.8370+123846C>A) | gnomAD v4 |
2 | g.108896893C>T | CA2660593306 | EDAR,RANBP2 | c.*14G>A (n.*14G>A) c.8370+123847C>T (n.8370+123847C>T) | gnomAD v4 |
2 | g.108896895C>A | CA2660593308 | EDAR,RANBP2 | c.*12G>T (n.*12G>T) c.8370+123849C>A (n.8370+123849C>A) | gnomAD v4 |
2 | g.108896895C= | CA1278354179 | EDAR,RANBP2 | c.*12G= (n.*12G=) c.8370+123849C= (n.8370+123849C=) | |
2 | g.108896895C>G | CA1824777 | EDAR,RANBP2 | c.*12G>C (n.*12G>C) c.8370+123849C>G (n.8370+123849C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896895C>T | CA2577065491 | EDAR,RANBP2 | c.*12G>A (n.*12G>A) c.8370+123849C>T (n.8370+123849C>T) | gnomAD v4 |
2 | g.108896895_108896896delinsCA | CA1278354178 | EDAR,RANBP2 | c.*11_*12delinsTG (n.*11_*12delinsTG) c.8370+123849_8370+123850delinsCA (n.8370+123849_8370+123850delinsCA) | |
2 | g.108896896del | CA1824778 | EDAR,RANBP2 | c.*11del (n.*11del) c.8370+123850del (n.8370+123850del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896896A= | CA1278354180 | EDAR,RANBP2 | c.*11T= (n.*11T=) c.8370+123850A= (n.8370+123850A=) | |
2 | g.108896896A>G | CA1278354181 | EDAR,RANBP2 | c.*11T>C (n.*11T>C) c.8370+123850A>G (n.8370+123850A>G) | dbSNP |
2 | g.108896898del | CA348047390 | EDAR,RANBP2 | c.*10del (n.*10del) c.8370+123852del (n.8370+123852del) | |
2 | g.108896898G>A | CA2660593310 | EDAR,RANBP2 | c.*9C>T (n.*9C>T) c.8370+123852G>A (n.8370+123852G>A) | gnomAD v4 |
2 | g.108896898G>C | CA1824779 | EDAR,RANBP2 | c.*9C>G (n.*9C>G) c.8370+123852G>C (n.8370+123852G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896898G= | CA1278354182 | EDAR,RANBP2 | c.*9C= (n.*9C=) c.8370+123852G= (n.8370+123852G=) | |
2 | g.108896899C>A | CA2660593312 | EDAR,RANBP2 | c.*8G>T (n.*8G>T) c.8370+123853C>A (n.8370+123853C>A) | gnomAD v4 |
2 | g.108896900A>G | CA2660593313 | EDAR,RANBP2 | c.*7T>C (n.*7T>C) c.8370+123854A>G (n.8370+123854A>G) | gnomAD v4 |
2 | g.108896901T>A | CA2660593315 | EDAR,RANBP2 | c.*6A>T (n.*6A>T) c.8370+123855T>A (n.8370+123855T>A) | gnomAD v4 |
2 | g.108896901T>C | CA2660593316 | EDAR,RANBP2 | c.*6A>G (n.*6A>G) c.8370+123855T>C (n.8370+123855T>C) | gnomAD v4 |
2 | g.108896901_108896902delinsTG | CA1278354183 | EDAR,RANBP2 | c.*5_*6delinsCA (n.*5_*6delinsCA) c.8370+123855_8370+123856delinsTG (n.8370+123855_8370+123856delinsTG) | |
2 | g.108896902del | CA1278354184 | EDAR,RANBP2 | c.*5del (n.*5del) c.8370+123856del (n.8370+123856del) | dbSNP |
2 | g.108896902G>C | CA1278354186 | EDAR,RANBP2 | c.*5C>G (n.*5C>G) c.8370+123856G>C (n.8370+123856G>C) | dbSNP |
2 | g.108896902G= | CA1278354185 | EDAR,RANBP2 | c.*5C= (n.*5C=) c.8370+123856G= (n.8370+123856G=) | |
2 | g.108896903C= | CA1278354187 | EDAR,RANBP2 | c.*4G= (n.*4G=) c.8370+123857C= (n.8370+123857C=) | |
2 | g.108896903C>T | CA2660593317 | EDAR,RANBP2 | c.*4G>A (n.*4G>A) c.8370+123857C>T (n.8370+123857C>T) | gnomAD v4 |
2 | g.108896907dup | CA535593630 | EDAR,RANBP2 | c.*3dup (n.*3dup) c.8370+123861dup (n.8370+123861dup) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108896907T>A | CA348047398 | EDAR,RANBP2 | c.1347A>T (p.Ter449Cys) c.1443A>T (p.Ter481Cys) c.1494A>T (p.Ter498Cys) c.1398A>T (p.Ter466Cys) c.774A>T (p.Ter258Cys) c.1587A>T (p.Ter529Cys) c.1491A>T (p.Ter497Cys) c.8370+123861T>A (n.8370+123861T>A) | |
2 | g.108896907T>C | CA348047394 | EDAR,RANBP2 | c.1347A>G (p.Ter449Trp) c.1443A>G (p.Ter481Trp) c.1494A>G (p.Ter498Trp) c.1398A>G (p.Ter466Trp) c.774A>G (p.Ter258Trp) c.1587A>G (p.Ter529Trp) c.1491A>G (p.Ter497Trp) c.8370+123861T>C (n.8370+123861T>C) | |
2 | g.108896907T>G | CA348047396 | EDAR,RANBP2 | c.1347A>C (p.Ter449Cys) c.1443A>C (p.Ter481Cys) c.1494A>C (p.Ter498Cys) c.1398A>C (p.Ter466Cys) c.774A>C (p.Ter258Cys) c.1587A>C (p.Ter529Cys) c.1491A>C (p.Ter497Cys) c.8370+123861T>G (n.8370+123861T>G) | |
2 | g.108896908C>A | CA348047400 | EDAR,RANBP2 | c.1346G>T (p.Ter449Leu) c.1442G>T (p.Ter481Leu) c.1493G>T (p.Ter498Leu) c.1397G>T (p.Ter466Leu) c.773G>T (p.Ter258Leu) c.1586G>T (p.Ter529Leu) c.1490G>T (p.Ter497Leu) c.8370+123862C>A (n.8370+123862C>A) | |
2 | g.108896908C>G | CA348047402 | EDAR,RANBP2 | c.1346G>C (p.Ter449Ser) c.1442G>C (p.Ter481Ser) c.1493G>C (p.Ter498Ser) c.1397G>C (p.Ter466Ser) c.773G>C (p.Ter258Ser) c.1586G>C (p.Ter529Ser) c.1490G>C (p.Ter497Ser) c.8370+123862C>G (n.8370+123862C>G) | |
2 | g.108896908C>T | CA428203857 | EDAR,RANBP2 | c.1346G>A (p.Ter449=) c.1442G>A (p.Ter481=) c.1493G>A (p.Ter498=) c.1397G>A (p.Ter466=) c.773G>A (p.Ter258=) c.1586G>A (p.Ter529=) c.1490G>A (p.Ter497=) c.8370+123862C>T (n.8370+123862C>T) | |
2 | g.108896909A= | CA1278354188 | EDAR,RANBP2 | c.1345T= (p.Ter449=) c.1441T= (p.Ter481=) c.1492T= (p.Ter498=) c.1396T= (p.Ter466=) c.772T= (p.Ter258=) c.1585T= (p.Ter529=) c.1489T= (p.Ter497=) c.8370+123863A= (n.8370+123863A=) | |
2 | g.108896909A>C | CA348047404 | EDAR,RANBP2 | c.1345T>G (p.Ter449Gly) c.1441T>G (p.Ter481Gly) c.1492T>G (p.Ter498Gly) c.1396T>G (p.Ter466Gly) c.772T>G (p.Ter258Gly) c.1585T>G (p.Ter529Gly) c.1489T>G (p.Ter497Gly) c.8370+123863A>C (n.8370+123863A>C) | |
2 | g.108896909A>G | CA348047406 | EDAR,RANBP2 | c.1345T>C (p.Ter449Arg) c.1441T>C (p.Ter481Arg) c.1492T>C (p.Ter498Arg) c.1396T>C (p.Ter466Arg) c.772T>C (p.Ter258Arg) c.1585T>C (p.Ter529Arg) c.1489T>C (p.Ter497Arg) c.8370+123863A>G (n.8370+123863A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108896909A>T | CA348047407 | EDAR,RANBP2 | c.1345T>A (p.Ter449Arg) c.1441T>A (p.Ter481Arg) c.1492T>A (p.Ter498Arg) c.1396T>A (p.Ter466Arg) c.772T>A (p.Ter258Arg) c.1585T>A (p.Ter529Arg) c.1489T>A (p.Ter497Arg) c.8370+123863A>T (n.8370+123863A>T) | |
2 | g.108896910G>A | CA428203860 | EDAR,RANBP2 | c.1344C>T (p.Ser448=) c.1440C>T (p.Ser480=) c.1491C>T (p.Ser497=) c.1395C>T (p.Ser465=) c.771C>T (p.Ser257=) c.1584C>T (p.Ser528=) c.1488C>T (p.Ser496=) c.8370+123864G>A (n.8370+123864G>A) | |
2 | g.108896910G>C | CA428203859 | EDAR,RANBP2 | c.1344C>G (p.Ser448=) c.1440C>G (p.Ser480=) c.1491C>G (p.Ser497=) c.1395C>G (p.Ser465=) c.771C>G (p.Ser257=) c.1584C>G (p.Ser528=) c.1488C>G (p.Ser496=) c.8370+123864G>C (n.8370+123864G>C) | |
2 | g.108896910G>T | CA428203858 | EDAR,RANBP2 | c.1344C>A (p.Ser448=) c.1440C>A (p.Ser480=) c.1491C>A (p.Ser497=) c.1395C>A (p.Ser465=) c.771C>A (p.Ser257=) c.1584C>A (p.Ser528=) c.1488C>A (p.Ser496=) c.8370+123864G>T (n.8370+123864G>T) | |
2 | g.108896911G>A | CA348047409 | EDAR,RANBP2 | c.1343C>T (p.Ser448Phe) c.1439C>T (p.Ser480Phe) c.1490C>T (p.Ser497Phe) c.1394C>T (p.Ser465Phe) c.770C>T (p.Ser257Phe) c.1583C>T (p.Ser528Phe) c.1487C>T (p.Ser496Phe) c.8370+123865G>A (n.8370+123865G>A) | |
2 | g.108896911G>C | CA348047410 | EDAR,RANBP2 | c.1343C>G (p.Ser448Cys) c.1439C>G (p.Ser480Cys) c.1490C>G (p.Ser497Cys) c.1394C>G (p.Ser465Cys) c.770C>G (p.Ser257Cys) c.1583C>G (p.Ser528Cys) c.1487C>G (p.Ser496Cys) c.8370+123865G>C (n.8370+123865G>C) | |
2 | g.108896911G>T | CA348047412 | EDAR,RANBP2 | c.1343C>A (p.Ser448Tyr) c.1439C>A (p.Ser480Tyr) c.1490C>A (p.Ser497Tyr) c.1394C>A (p.Ser465Tyr) c.770C>A (p.Ser257Tyr) c.1583C>A (p.Ser528Tyr) c.1487C>A (p.Ser496Tyr) c.8370+123865G>T (n.8370+123865G>T) | |
2 | g.108896912A>C | CA348047415 | EDAR,RANBP2 | c.1342T>G (p.Ser448Ala) c.1438T>G (p.Ser480Ala) c.1489T>G (p.Ser497Ala) c.1393T>G (p.Ser465Ala) c.769T>G (p.Ser257Ala) c.1582T>G (p.Ser528Ala) c.1486T>G (p.Ser496Ala) c.8370+123866A>C (n.8370+123866A>C) | |
2 | g.108896912A>G | CA348047416 | EDAR,RANBP2 | c.1342T>C (p.Ser448Pro) c.1438T>C (p.Ser480Pro) c.1489T>C (p.Ser497Pro) c.1393T>C (p.Ser465Pro) c.769T>C (p.Ser257Pro) c.1582T>C (p.Ser528Pro) c.1486T>C (p.Ser496Pro) c.8370+123866A>G (n.8370+123866A>G) | |
2 | g.108896912A>T | CA348047418 | EDAR,RANBP2 | c.1342T>A (p.Ser448Thr) c.1438T>A (p.Ser480Thr) c.1489T>A (p.Ser497Thr) c.1393T>A (p.Ser465Thr) c.769T>A (p.Ser257Thr) c.1582T>A (p.Ser528Thr) c.1486T>A (p.Ser496Thr) c.8370+123866A>T (n.8370+123866A>T) | |
2 | g.108896913T>A | CA428203861 | EDAR,RANBP2 | c.1341A>T (p.Ala447=) c.1437A>T (p.Ala479=) c.1488A>T (p.Ala496=) c.1392A>T (p.Ala464=) c.768A>T (p.Ala256=) c.1581A>T (p.Ala527=) c.1485A>T (p.Ala495=) c.8370+123867T>A (n.8370+123867T>A) | |
2 | g.108896913T>C | CA428203862 | EDAR,RANBP2 | c.1341A>G (p.Ala447=) c.1437A>G (p.Ala479=) c.1488A>G (p.Ala496=) c.1392A>G (p.Ala464=) c.768A>G (p.Ala256=) c.1581A>G (p.Ala527=) c.1485A>G (p.Ala495=) c.8370+123867T>C (n.8370+123867T>C) | gnomAD v4 |
2 | g.108896913T>G | CA428203863 | EDAR,RANBP2 | c.1341A>C (p.Ala447=) c.1437A>C (p.Ala479=) c.1488A>C (p.Ala496=) c.1392A>C (p.Ala464=) c.768A>C (p.Ala256=) c.1581A>C (p.Ala527=) c.1485A>C (p.Ala495=) c.8370+123867T>G (n.8370+123867T>G) | |
2 | g.108896914G>A | CA348047423 | EDAR,RANBP2 | c.1340C>T (p.Ala447Val) c.1436C>T (p.Ala479Val) c.1487C>T (p.Ala496Val) c.1391C>T (p.Ala464Val) c.767C>T (p.Ala256Val) c.1580C>T (p.Ala527Val) c.1484C>T (p.Ala495Val) c.8370+123868G>A (n.8370+123868G>A) | gnomAD v4 |
2 | g.108896914G>C | CA348047421 | EDAR,RANBP2 | c.1340C>G (p.Ala447Gly) c.1436C>G (p.Ala479Gly) c.1487C>G (p.Ala496Gly) c.1391C>G (p.Ala464Gly) c.767C>G (p.Ala256Gly) c.1580C>G (p.Ala527Gly) c.1484C>G (p.Ala495Gly) c.8370+123868G>C (n.8370+123868G>C) | |
2 | g.108896914G>T | CA348047420 | EDAR,RANBP2 | c.1340C>A (p.Ala447Glu) c.1436C>A (p.Ala479Glu) c.1487C>A (p.Ala496Glu) c.1391C>A (p.Ala464Glu) c.767C>A (p.Ala256Glu) c.1580C>A (p.Ala527Glu) c.1484C>A (p.Ala495Glu) c.8370+123868G>T (n.8370+123868G>T) | |
2 | g.108896915C>A | CA348047426 | EDAR,RANBP2 | c.1339G>T (p.Ala447Ser) c.1435G>T (p.Ala479Ser) c.1486G>T (p.Ala496Ser) c.1390G>T (p.Ala464Ser) c.766G>T (p.Ala256Ser) c.1579G>T (p.Ala527Ser) c.1483G>T (p.Ala495Ser) c.8370+123869C>A (n.8370+123869C>A) | |
2 | g.108896915C>G | CA348047428 | EDAR,RANBP2 | c.1339G>C (p.Ala447Pro) c.1435G>C (p.Ala479Pro) c.1486G>C (p.Ala496Pro) c.1390G>C (p.Ala464Pro) c.766G>C (p.Ala256Pro) c.1579G>C (p.Ala527Pro) c.1483G>C (p.Ala495Pro) c.8370+123869C>G (n.8370+123869C>G) | |
2 | g.108896915C>T | CA348047429 | EDAR,RANBP2 | c.1339G>A (p.Ala447Thr) c.1435G>A (p.Ala479Thr) c.1486G>A (p.Ala496Thr) c.1390G>A (p.Ala464Thr) c.766G>A (p.Ala256Thr) c.1579G>A (p.Ala527Thr) c.1483G>A (p.Ala495Thr) c.8370+123869C>T (n.8370+123869C>T) | gnomAD v4 |
2 | g.108896916A= | CA1278354189 | EDAR,RANBP2 | c.1338T= (p.Ala446=) c.1434T= (p.Ala478=) c.1485T= (p.Ala495=) c.1389T= (p.Ala463=) c.765T= (p.Ala255=) c.1578T= (p.Ala526=) c.1482T= (p.Ala494=) c.8370+123870A= (n.8370+123870A=) | |
2 | g.108896916A>C | CA428203864 | EDAR,RANBP2 | c.1338T>G (p.Ala446=) c.1434T>G (p.Ala478=) c.1485T>G (p.Ala495=) c.1389T>G (p.Ala463=) c.765T>G (p.Ala255=) c.1578T>G (p.Ala526=) c.1482T>G (p.Ala494=) c.8370+123870A>C (n.8370+123870A>C) | |
2 | g.108896916A>G | CA1824780 | EDAR,RANBP2 | c.1338T>C (p.Ala446=) c.1434T>C (p.Ala478=) c.1485T>C (p.Ala495=) c.1389T>C (p.Ala463=) c.765T>C (p.Ala255=) c.1578T>C (p.Ala526=) c.1482T>C (p.Ala494=) c.8370+123870A>G (n.8370+123870A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896916A>T | CA428203865 | EDAR,RANBP2 | c.1338T>A (p.Ala446=) c.1434T>A (p.Ala478=) c.1485T>A (p.Ala495=) c.1389T>A (p.Ala463=) c.765T>A (p.Ala255=) c.1578T>A (p.Ala526=) c.1482T>A (p.Ala494=) c.8370+123870A>T (n.8370+123870A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.108896917G>A | CA348047430 | EDAR,RANBP2 | c.1337C>T (p.Ala446Val) c.1433C>T (p.Ala478Val) c.1484C>T (p.Ala495Val) c.1388C>T (p.Ala463Val) c.764C>T (p.Ala255Val) c.1577C>T (p.Ala526Val) c.1481C>T (p.Ala494Val) c.8370+123871G>A (n.8370+123871G>A) | |
2 | g.108896917G>C | CA348047431 | EDAR,RANBP2 | c.1337C>G (p.Ala446Gly) c.1433C>G (p.Ala478Gly) c.1484C>G (p.Ala495Gly) c.1388C>G (p.Ala463Gly) c.764C>G (p.Ala255Gly) c.1577C>G (p.Ala526Gly) c.1481C>G (p.Ala494Gly) c.8370+123871G>C (n.8370+123871G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108896917G= | CA1278354190 | EDAR,RANBP2 | c.1337C= (p.Ala446=) c.1433C= (p.Ala478=) c.1484C= (p.Ala495=) c.1388C= (p.Ala463=) c.764C= (p.Ala255=) c.1577C= (p.Ala526=) c.1481C= (p.Ala494=) c.8370+123871G= (n.8370+123871G=) | |
2 | g.108896917G>T | CA348047432 | EDAR,RANBP2 | c.1337C>A (p.Ala446Asp) c.1433C>A (p.Ala478Asp) c.1484C>A (p.Ala495Asp) c.1388C>A (p.Ala463Asp) c.764C>A (p.Ala255Asp) c.1577C>A (p.Ala526Asp) c.1481C>A (p.Ala494Asp) c.8370+123871G>T (n.8370+123871G>T) | |
2 | g.108896918C>A | CA348047433 | EDAR,RANBP2 | c.1336G>T (p.Ala446Ser) c.1432G>T (p.Ala478Ser) c.1483G>T (p.Ala495Ser) c.1387G>T (p.Ala463Ser) c.763G>T (p.Ala255Ser) c.1576G>T (p.Ala526Ser) c.1480G>T (p.Ala494Ser) c.8370+123872C>A (n.8370+123872C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108896918C= | CA1278354192 | EDAR,RANBP2 | c.1336G= (p.Ala446=) c.1432G= (p.Ala478=) c.1483G= (p.Ala495=) c.1387G= (p.Ala463=) c.763G= (p.Ala255=) c.1576G= (p.Ala526=) c.1480G= (p.Ala494=) c.8370+123872C= (n.8370+123872C=) | |
2 | g.108896918C>G | CA348047434 | EDAR,RANBP2 | c.1336G>C (p.Ala446Pro) c.1432G>C (p.Ala478Pro) c.1483G>C (p.Ala495Pro) c.1387G>C (p.Ala463Pro) c.763G>C (p.Ala255Pro) c.1576G>C (p.Ala526Pro) c.1480G>C (p.Ala494Pro) c.8370+123872C>G (n.8370+123872C>G) | |
2 | g.108896918C>T | CA348047435 | EDAR,RANBP2 | c.1336G>A (p.Ala446Thr) c.1432G>A (p.Ala478Thr) c.1483G>A (p.Ala495Thr) c.1387G>A (p.Ala463Thr) c.763G>A (p.Ala255Thr) c.1576G>A (p.Ala526Thr) c.1480G>A (p.Ala494Thr) c.8370+123872C>T (n.8370+123872C>T) | |
2 | g.108896918_108896919delinsCA | CA1278354191 | EDAR,RANBP2 | c.1335_1336delinsTG (p.His445=) c.1431_1432delinsTG (p.His477=) c.1482_1483delinsTG (p.His494=) c.1386_1387delinsTG (p.His462=) c.762_763delinsTG (p.His254=) c.1575_1576delinsTG (p.His525=) c.1479_1480delinsTG (p.His493=) c.8370+123872_8370+123873delinsCA (n.8370+123872_8370+123873delinsCA) | |
2 | g.108896919del | CA53464610 | EDAR,RANBP2 | c.1335del (p.His445GlnfsTer?) c.1431del (p.His477GlnfsTer?) c.1482del (p.His494GlnfsTer?) c.1386del (p.His462GlnfsTer?) c.762del (p.His254GlnfsTer?) c.1575del (p.His525GlnfsTer?) c.1479del (p.His493GlnfsTer?) c.8370+123873del (n.8370+123873del) | dbSNP gnomAD v4 |
2 | g.108896919A= | CA1278354193 | EDAR,RANBP2 | c.1335T= (p.His445=) c.1431T= (p.His477=) c.1482T= (p.His494=) c.1386T= (p.His462=) c.762T= (p.His254=) c.1575T= (p.His525=) c.1479T= (p.His493=) c.8370+123873A= (n.8370+123873A=) | |
2 | g.108896919A>C | CA348047436 | EDAR,RANBP2 | c.1335T>G (p.His445Gln) c.1431T>G (p.His477Gln) c.1482T>G (p.His494Gln) c.1386T>G (p.His462Gln) c.762T>G (p.His254Gln) c.1575T>G (p.His525Gln) c.1479T>G (p.His493Gln) c.8370+123873A>C (n.8370+123873A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108896919A>G | CA428203866 | EDAR,RANBP2 | c.1335T>C (p.His445=) c.1431T>C (p.His477=) c.1482T>C (p.His494=) c.1386T>C (p.His462=) c.762T>C (p.His254=) c.1575T>C (p.His525=) c.1479T>C (p.His493=) c.8370+123873A>G (n.8370+123873A>G) | |
2 | g.108896919A>T | CA348047437 | EDAR,RANBP2 | c.1335T>A (p.His445Gln) c.1431T>A (p.His477Gln) c.1482T>A (p.His494Gln) c.1386T>A (p.His462Gln) c.762T>A (p.His254Gln) c.1575T>A (p.His525Gln) c.1479T>A (p.His493Gln) c.8370+123873A>T (n.8370+123873A>T) | |
2 | g.108896920T>A | CA348047442 | EDAR,RANBP2 | c.1334A>T (p.His445Leu) c.1430A>T (p.His477Leu) c.1481A>T (p.His494Leu) c.1385A>T (p.His462Leu) c.761A>T (p.His254Leu) c.1574A>T (p.His525Leu) c.1478A>T (p.His493Leu) c.8370+123874T>A (n.8370+123874T>A) | gnomAD v4 |
2 | g.108896920T>C | CA348047444 | EDAR,RANBP2 | c.1334A>G (p.His445Arg) c.1430A>G (p.His477Arg) c.1481A>G (p.His494Arg) c.1385A>G (p.His462Arg) c.761A>G (p.His254Arg) c.1574A>G (p.His525Arg) c.1478A>G (p.His493Arg) c.8370+123874T>C (n.8370+123874T>C) | |
2 | g.108896920T>G | CA348047440 | EDAR,RANBP2 | c.1334A>C (p.His445Pro) c.1430A>C (p.His477Pro) c.1481A>C (p.His494Pro) c.1385A>C (p.His462Pro) c.761A>C (p.His254Pro) c.1574A>C (p.His525Pro) c.1478A>C (p.His493Pro) c.8370+123874T>G (n.8370+123874T>G) | |
2 | g.108896921G>A | CA1824781 | EDAR,RANBP2 | c.1333C>T (p.His445Tyr) c.1429C>T (p.His477Tyr) c.1480C>T (p.His494Tyr) c.1384C>T (p.His462Tyr) c.760C>T (p.His254Tyr) c.1573C>T (p.His525Tyr) c.1477C>T (p.His493Tyr) c.8370+123875G>A (n.8370+123875G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896921G>C | CA348047447 | EDAR,RANBP2 | c.1333C>G (p.His445Asp) c.1429C>G (p.His477Asp) c.1480C>G (p.His494Asp) c.1384C>G (p.His462Asp) c.760C>G (p.His254Asp) c.1573C>G (p.His525Asp) c.1477C>G (p.His493Asp) c.8370+123875G>C (n.8370+123875G>C) | |
2 | g.108896921G= | CA1278354194 | EDAR,RANBP2 | c.1333C= (p.His445=) c.1429C= (p.His477=) c.1480C= (p.His494=) c.1384C= (p.His462=) c.760C= (p.His254=) c.1573C= (p.His525=) c.1477C= (p.His493=) c.8370+123875G= (n.8370+123875G=) | |
2 | g.108896921G>T | CA348047449 | EDAR,RANBP2 | c.1333C>A (p.His445Asn) c.1429C>A (p.His477Asn) c.1480C>A (p.His494Asn) c.1384C>A (p.His462Asn) c.760C>A (p.His254Asn) c.1573C>A (p.His525Asn) c.1477C>A (p.His493Asn) c.8370+123875G>T (n.8370+123875G>T) | |
2 | g.108896922T>A | CA428203867 | EDAR,RANBP2 | c.1332A>T (p.Pro444=) c.1428A>T (p.Pro476=) c.1479A>T (p.Pro493=) c.1383A>T (p.Pro461=) c.759A>T (p.Pro253=) c.1572A>T (p.Pro524=) c.1476A>T (p.Pro492=) c.8370+123876T>A (n.8370+123876T>A) | |
2 | g.108896922T>C | CA428203868 | EDAR,RANBP2 | c.1332A>G (p.Pro444=) c.1428A>G (p.Pro476=) c.1479A>G (p.Pro493=) c.1383A>G (p.Pro461=) c.759A>G (p.Pro253=) c.1572A>G (p.Pro524=) c.1476A>G (p.Pro492=) c.8370+123876T>C (n.8370+123876T>C) | |
2 | g.108896922T>G | CA428203869 | EDAR,RANBP2 | c.1332A>C (p.Pro444=) c.1428A>C (p.Pro476=) c.1479A>C (p.Pro493=) c.1383A>C (p.Pro461=) c.759A>C (p.Pro253=) c.1572A>C (p.Pro524=) c.1476A>C (p.Pro492=) c.8370+123876T>G (n.8370+123876T>G) | |
2 | g.108896923G>A | CA1824782 | EDAR,RANBP2 | c.1331C>T (p.Pro444Leu) c.1427C>T (p.Pro476Leu) c.1478C>T (p.Pro493Leu) c.1382C>T (p.Pro461Leu) c.758C>T (p.Pro253Leu) c.1571C>T (p.Pro524Leu) c.1475C>T (p.Pro492Leu) c.8370+123877G>A (n.8370+123877G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896923G>C | CA348047451 | EDAR,RANBP2 | c.1331C>G (p.Pro444Arg) c.1427C>G (p.Pro476Arg) c.1478C>G (p.Pro493Arg) c.1382C>G (p.Pro461Arg) c.758C>G (p.Pro253Arg) c.1571C>G (p.Pro524Arg) c.1475C>G (p.Pro492Arg) c.8370+123877G>C (n.8370+123877G>C) | |
2 | g.108896923G= | CA1278354195 | EDAR,RANBP2 | c.1331C= (p.Pro444=) c.1427C= (p.Pro476=) c.1478C= (p.Pro493=) c.1382C= (p.Pro461=) c.758C= (p.Pro253=) c.1571C= (p.Pro524=) c.1475C= (p.Pro492=) c.8370+123877G= (n.8370+123877G=) | |
2 | g.108896923G>T | CA348047453 | EDAR,RANBP2 | c.1331C>A (p.Pro444Gln) c.1427C>A (p.Pro476Gln) c.1478C>A (p.Pro493Gln) c.1382C>A (p.Pro461Gln) c.758C>A (p.Pro253Gln) c.1571C>A (p.Pro524Gln) c.1475C>A (p.Pro492Gln) c.8370+123877G>T (n.8370+123877G>T) | |
2 | g.108896924G>A | CA348047456 | EDAR,RANBP2 | c.1330C>T (p.Pro444Ser) c.1426C>T (p.Pro476Ser) c.1477C>T (p.Pro493Ser) c.1381C>T (p.Pro461Ser) c.757C>T (p.Pro253Ser) c.1570C>T (p.Pro524Ser) c.1474C>T (p.Pro492Ser) c.8370+123878G>A (n.8370+123878G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108896924G>C | CA348047458 | EDAR,RANBP2 | c.1330C>G (p.Pro444Ala) c.1426C>G (p.Pro476Ala) c.1477C>G (p.Pro493Ala) c.1381C>G (p.Pro461Ala) c.757C>G (p.Pro253Ala) c.1570C>G (p.Pro524Ala) c.1474C>G (p.Pro492Ala) c.8370+123878G>C (n.8370+123878G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108896924G= | CA1278354196 | EDAR,RANBP2 | c.1330C= (p.Pro444=) c.1426C= (p.Pro476=) c.1477C= (p.Pro493=) c.1381C= (p.Pro461=) c.757C= (p.Pro253=) c.1570C= (p.Pro524=) c.1474C= (p.Pro492=) c.8370+123878G= (n.8370+123878G=) | |
2 | g.108896924G>T | CA348047460 | EDAR,RANBP2 | c.1330C>A (p.Pro444Thr) c.1426C>A (p.Pro476Thr) c.1477C>A (p.Pro493Thr) c.1381C>A (p.Pro461Thr) c.757C>A (p.Pro253Thr) c.1570C>A (p.Pro524Thr) c.1474C>A (p.Pro492Thr) c.8370+123878G>T (n.8370+123878G>T) | dbSNP gnomAD v4 |
2 | g.108896925C>A | CA348047461 | EDAR,RANBP2 | c.1329G>T (p.Gln443His) c.1425G>T (p.Gln475His) c.1476G>T (p.Gln492His) c.1380G>T (p.Gln460His) c.756G>T (p.Gln252His) c.1569G>T (p.Gln523His) c.1473G>T (p.Gln491His) c.8370+123879C>A (n.8370+123879C>A) | |
2 | g.108896925C>G | CA348047462 | EDAR,RANBP2 | c.1329G>C (p.Gln443His) c.1425G>C (p.Gln475His) c.1476G>C (p.Gln492His) c.1380G>C (p.Gln460His) c.756G>C (p.Gln252His) c.1569G>C (p.Gln523His) c.1473G>C (p.Gln491His) c.8370+123879C>G (n.8370+123879C>G) | |
2 | g.108896925C>T | CA428203870 | EDAR,RANBP2 | c.1329G>A (p.Gln443=) c.1425G>A (p.Gln475=) c.1476G>A (p.Gln492=) c.1380G>A (p.Gln460=) c.756G>A (p.Gln252=) c.1569G>A (p.Gln523=) c.1473G>A (p.Gln491=) c.8370+123879C>T (n.8370+123879C>T) | |
2 | g.108896926T>A | CA348047466 | EDAR,RANBP2 | c.1328A>T (p.Gln443Leu) c.1424A>T (p.Gln475Leu) c.1475A>T (p.Gln492Leu) c.1379A>T (p.Gln460Leu) c.755A>T (p.Gln252Leu) c.1568A>T (p.Gln523Leu) c.1472A>T (p.Gln491Leu) c.8370+123880T>A (n.8370+123880T>A) | |
2 | g.108896926T>C | CA348047465 | EDAR,RANBP2 | c.1328A>G (p.Gln443Arg) c.1424A>G (p.Gln475Arg) c.1475A>G (p.Gln492Arg) c.1379A>G (p.Gln460Arg) c.755A>G (p.Gln252Arg) c.1568A>G (p.Gln523Arg) c.1472A>G (p.Gln491Arg) c.8370+123880T>C (n.8370+123880T>C) | |
2 | g.108896926T>G | CA348047463 | EDAR,RANBP2 | c.1328A>C (p.Gln443Pro) c.1424A>C (p.Gln475Pro) c.1475A>C (p.Gln492Pro) c.1379A>C (p.Gln460Pro) c.755A>C (p.Gln252Pro) c.1568A>C (p.Gln523Pro) c.1472A>C (p.Gln491Pro) c.8370+123880T>G (n.8370+123880T>G) | |
2 | g.108896927G>A | CA348047468 | EDAR,RANBP2 | c.1327C>T (p.Gln443Ter) c.1423C>T (p.Gln475Ter) c.1474C>T (p.Gln492Ter) c.1378C>T (p.Gln460Ter) c.754C>T (p.Gln252Ter) c.1567C>T (p.Gln523Ter) c.1471C>T (p.Gln491Ter) c.8370+123881G>A (n.8370+123881G>A) | COSMIC COSMIC |
2 | g.108896927G>C | CA348047470 | EDAR,RANBP2 | c.1327C>G (p.Gln443Glu) c.1423C>G (p.Gln475Glu) c.1474C>G (p.Gln492Glu) c.1378C>G (p.Gln460Glu) c.754C>G (p.Gln252Glu) c.1567C>G (p.Gln523Glu) c.1471C>G (p.Gln491Glu) c.8370+123881G>C (n.8370+123881G>C) | |
2 | g.108896927G>T | CA348047471 | EDAR,RANBP2 | c.1327C>A (p.Gln443Lys) c.1423C>A (p.Gln475Lys) c.1474C>A (p.Gln492Lys) c.1378C>A (p.Gln460Lys) c.754C>A (p.Gln252Lys) c.1567C>A (p.Gln523Lys) c.1471C>A (p.Gln491Lys) c.8370+123881G>T (n.8370+123881G>T) | |
2 | g.108896928G>A | CA53464624 | EDAR,RANBP2 | c.1326C>T (p.Ser442=) c.1422C>T (p.Ser474=) c.1473C>T (p.Ser491=) c.1377C>T (p.Ser459=) c.753C>T (p.Ser251=) c.1566C>T (p.Ser522=) c.1470C>T (p.Ser490=) c.8370+123882G>A (n.8370+123882G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896928G>C | CA428203871 | EDAR,RANBP2 | c.1326C>G (p.Ser442=) c.1422C>G (p.Ser474=) c.1473C>G (p.Ser491=) c.1377C>G (p.Ser459=) c.753C>G (p.Ser251=) c.1566C>G (p.Ser522=) c.1470C>G (p.Ser490=) c.8370+123882G>C (n.8370+123882G>C) | |
2 | g.108896928G= | CA1278354197 | EDAR,RANBP2 | c.1326C= (p.Ser442=) c.1422C= (p.Ser474=) c.1473C= (p.Ser491=) c.1377C= (p.Ser459=) c.753C= (p.Ser251=) c.1566C= (p.Ser522=) c.1470C= (p.Ser490=) c.8370+123882G= (n.8370+123882G=) | |
2 | g.108896928G>T | CA428203872 | EDAR,RANBP2 | c.1326C>A (p.Ser442=) c.1422C>A (p.Ser474=) c.1473C>A (p.Ser491=) c.1377C>A (p.Ser459=) c.753C>A (p.Ser251=) c.1566C>A (p.Ser522=) c.1470C>A (p.Ser490=) c.8370+123882G>T (n.8370+123882G>T) | |
2 | g.108896929G>A | CA348047474 | EDAR,RANBP2 | c.1325C>T (p.Ser442Phe) c.1421C>T (p.Ser474Phe) c.1472C>T (p.Ser491Phe) c.1376C>T (p.Ser459Phe) c.752C>T (p.Ser251Phe) c.1565C>T (p.Ser522Phe) c.1469C>T (p.Ser490Phe) c.8370+123883G>A (n.8370+123883G>A) | |
2 | g.108896929G>C | CA348047475 | EDAR,RANBP2 | c.1325C>G (p.Ser442Cys) c.1421C>G (p.Ser474Cys) c.1472C>G (p.Ser491Cys) c.1376C>G (p.Ser459Cys) c.752C>G (p.Ser251Cys) c.1565C>G (p.Ser522Cys) c.1469C>G (p.Ser490Cys) c.8370+123883G>C (n.8370+123883G>C) | |
2 | g.108896929G>T | CA348047478 | EDAR,RANBP2 | c.1325C>A (p.Ser442Tyr) c.1421C>A (p.Ser474Tyr) c.1472C>A (p.Ser491Tyr) c.1376C>A (p.Ser459Tyr) c.752C>A (p.Ser251Tyr) c.1565C>A (p.Ser522Tyr) c.1469C>A (p.Ser490Tyr) c.8370+123883G>T (n.8370+123883G>T) | |
2 | g.108896930A= | CA1278354198 | EDAR,RANBP2 | c.1324T= (p.Ser442=) c.1420T= (p.Ser474=) c.1471T= (p.Ser491=) c.1375T= (p.Ser459=) c.751T= (p.Ser251=) c.1564T= (p.Ser522=) c.1468T= (p.Ser490=) c.8370+123884A= (n.8370+123884A=) | |
2 | g.108896930A>C | CA348047480 | EDAR,RANBP2 | c.1324T>G (p.Ser442Ala) c.1420T>G (p.Ser474Ala) c.1471T>G (p.Ser491Ala) c.1375T>G (p.Ser459Ala) c.751T>G (p.Ser251Ala) c.1564T>G (p.Ser522Ala) c.1468T>G (p.Ser490Ala) c.8370+123884A>C (n.8370+123884A>C) | |
2 | g.108896930A>G | CA1824783 | EDAR,RANBP2 | c.1324T>C (p.Ser442Pro) c.1420T>C (p.Ser474Pro) c.1471T>C (p.Ser491Pro) c.1375T>C (p.Ser459Pro) c.751T>C (p.Ser251Pro) c.1564T>C (p.Ser522Pro) c.1468T>C (p.Ser490Pro) c.8370+123884A>G (n.8370+123884A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108896930A>T | CA348047482 | EDAR,RANBP2 | c.1324T>A (p.Ser442Thr) c.1420T>A (p.Ser474Thr) c.1471T>A (p.Ser491Thr) c.1375T>A (p.Ser459Thr) c.751T>A (p.Ser251Thr) c.1564T>A (p.Ser522Thr) c.1468T>A (p.Ser490Thr) c.8370+123884A>T (n.8370+123884A>T) | |
2 | g.108896931G>A | CA428203875 | EDAR,RANBP2 | c.1323C>T (p.Ala441=) c.1419C>T (p.Ala473=) c.1470C>T (p.Ala490=) c.1374C>T (p.Ala458=) c.750C>T (p.Ala250=) c.1563C>T (p.Ala521=) c.1467C>T (p.Ala489=) c.8370+123885G>A (n.8370+123885G>A) | COSMIC COSMIC |
2 | g.108896931G>C | CA428203873 | EDAR,RANBP2 | c.1323C>G (p.Ala441=) c.1419C>G (p.Ala473=) c.1470C>G (p.Ala490=) c.1374C>G (p.Ala458=) c.750C>G (p.Ala250=) c.1563C>G (p.Ala521=) c.1467C>G (p.Ala489=) c.8370+123885G>C (n.8370+123885G>C) | |
2 | g.108896931G>T | CA428203874 | EDAR,RANBP2 | c.1323C>A (p.Ala441=) c.1419C>A (p.Ala473=) c.1470C>A (p.Ala490=) c.1374C>A (p.Ala458=) c.750C>A (p.Ala250=) c.1563C>A (p.Ala521=) c.1467C>A (p.Ala489=) c.8370+123885G>T (n.8370+123885G>T) | |
2 | g.108896932G>A | CA348047483 | EDAR,RANBP2 | c.1322C>T (p.Ala441Val) c.1418C>T (p.Ala473Val) c.1469C>T (p.Ala490Val) c.1373C>T (p.Ala458Val) c.749C>T (p.Ala250Val) c.1562C>T (p.Ala521Val) c.1466C>T (p.Ala489Val) c.8370+123886G>A (n.8370+123886G>A) | |
2 | g.108896932G>C | CA348047484 | EDAR,RANBP2 | c.1322C>G (p.Ala441Gly) c.1418C>G (p.Ala473Gly) c.1469C>G (p.Ala490Gly) c.1373C>G (p.Ala458Gly) c.749C>G (p.Ala250Gly) c.1562C>G (p.Ala521Gly) c.1466C>G (p.Ala489Gly) c.8370+123886G>C (n.8370+123886G>C) | |
2 | g.108896932G>T | CA348047487 | EDAR,RANBP2 | c.1322C>A (p.Ala441Asp) c.1418C>A (p.Ala473Asp) c.1469C>A (p.Ala490Asp) c.1373C>A (p.Ala458Asp) c.749C>A (p.Ala250Asp) c.1562C>A (p.Ala521Asp) c.1466C>A (p.Ala489Asp) c.8370+123886G>T (n.8370+123886G>T) | |
2 | g.108896933C>A | CA348047492 | EDAR,RANBP2 | c.1321G>T (p.Ala441Ser) c.1417G>T (p.Ala473Ser) c.1468G>T (p.Ala490Ser) c.1372G>T (p.Ala458Ser) c.748G>T (p.Ala250Ser) c.1561G>T (p.Ala521Ser) c.1465G>T (p.Ala489Ser) c.8370+123887C>A (n.8370+123887C>A) | |
2 | g.108896933C= | CA1278354199 | EDAR,RANBP2 | c.1321G= (p.Ala441=) c.1417G= (p.Ala473=) c.1468G= (p.Ala490=) c.1372G= (p.Ala458=) c.748G= (p.Ala250=) c.1561G= (p.Ala521=) c.1465G= (p.Ala489=) c.8370+123887C= (n.8370+123887C=) | |
2 | g.108896933C>G | CA348047490 | EDAR,RANBP2 | c.1321G>C (p.Ala441Pro) c.1417G>C (p.Ala473Pro) c.1468G>C (p.Ala490Pro) c.1372G>C (p.Ala458Pro) c.748G>C (p.Ala250Pro) c.1561G>C (p.Ala521Pro) c.1465G>C (p.Ala489Pro) c.8370+123887C>G (n.8370+123887C>G) | dbSNP |
2 | g.108896933C>T | CA348047488 | EDAR,RANBP2 | c.1321G>A (p.Ala441Thr) c.1417G>A (p.Ala473Thr) c.1468G>A (p.Ala490Thr) c.1372G>A (p.Ala458Thr) c.748G>A (p.Ala250Thr) c.1561G>A (p.Ala521Thr) c.1465G>A (p.Ala489Thr) c.8370+123887C>T (n.8370+123887C>T) | |
2 | g.108896934A>C | CA428203876 | EDAR,RANBP2 | c.1320T>G (p.Pro440=) c.1416T>G (p.Pro472=) c.1467T>G (p.Pro489=) c.1371T>G (p.Pro457=) c.747T>G (p.Pro249=) c.1560T>G (p.Pro520=) c.1464T>G (p.Pro488=) c.8370+123888A>C (n.8370+123888A>C) | |
2 | g.108896934A>G | CA428203877 | EDAR,RANBP2 | c.1320T>C (p.Pro440=) c.1416T>C (p.Pro472=) c.1467T>C (p.Pro489=) c.1371T>C (p.Pro457=) c.747T>C (p.Pro249=) c.1560T>C (p.Pro520=) c.1464T>C (p.Pro488=) c.8370+123888A>G (n.8370+123888A>G) | |
2 | g.108896934A>T | CA428203878 | EDAR,RANBP2 | c.1320T>A (p.Pro440=) c.1416T>A (p.Pro472=) c.1467T>A (p.Pro489=) c.1371T>A (p.Pro457=) c.747T>A (p.Pro249=) c.1560T>A (p.Pro520=) c.1464T>A (p.Pro488=) c.8370+123888A>T (n.8370+123888A>T) | |
2 | g.108896935G>A | CA348047493 | EDAR,RANBP2 | c.1319C>T (p.Pro440Leu) c.1415C>T (p.Pro472Leu) c.1466C>T (p.Pro489Leu) c.1370C>T (p.Pro457Leu) c.746C>T (p.Pro249Leu) c.1559C>T (p.Pro520Leu) c.1463C>T (p.Pro488Leu) c.8370+123889G>A (n.8370+123889G>A) | |
2 | g.108896935G>C | CA348047498 | EDAR,RANBP2 | c.1319C>G (p.Pro440Arg) c.1415C>G (p.Pro472Arg) c.1466C>G (p.Pro489Arg) c.1370C>G (p.Pro457Arg) c.746C>G (p.Pro249Arg) c.1559C>G (p.Pro520Arg) c.1463C>G (p.Pro488Arg) c.8370+123889G>C (n.8370+123889G>C) | |
2 | g.108896935G>T | CA348047496 | EDAR,RANBP2 | c.1319C>A (p.Pro440His) c.1415C>A (p.Pro472His) c.1466C>A (p.Pro489His) c.1370C>A (p.Pro457His) c.746C>A (p.Pro249His) c.1559C>A (p.Pro520His) c.1463C>A (p.Pro488His) c.8370+123889G>T (n.8370+123889G>T) | |
2 | g.108896936G>A | CA53464628 | EDAR,RANBP2 | c.1318C>T (p.Pro440Ser) c.1414C>T (p.Pro472Ser) c.1465C>T (p.Pro489Ser) c.1369C>T (p.Pro457Ser) c.745C>T (p.Pro249Ser) c.1558C>T (p.Pro520Ser) c.1462C>T (p.Pro488Ser) c.8370+123890G>A (n.8370+123890G>A) | dbSNP gnomAD v4 |
2 | g.108896936G>C | CA348047500 | EDAR,RANBP2 | c.1318C>G (p.Pro440Ala) c.1414C>G (p.Pro472Ala) c.1465C>G (p.Pro489Ala) c.1369C>G (p.Pro457Ala) c.745C>G (p.Pro249Ala) c.1558C>G (p.Pro520Ala) c.1462C>G (p.Pro488Ala) c.8370+123890G>C (n.8370+123890G>C) | |
2 | g.108896936G= | CA1278354200 | EDAR,RANBP2 | c.1318C= (p.Pro440=) c.1414C= (p.Pro472=) c.1465C= (p.Pro489=) c.1369C= (p.Pro457=) c.745C= (p.Pro249=) c.1558C= (p.Pro520=) c.1462C= (p.Pro488=) c.8370+123890G= (n.8370+123890G=) | |
2 | g.108896936G>T | CA348047502 | EDAR,RANBP2 | c.1318C>A (p.Pro440Thr) c.1414C>A (p.Pro472Thr) c.1465C>A (p.Pro489Thr) c.1369C>A (p.Pro457Thr) c.745C>A (p.Pro249Thr) c.1558C>A (p.Pro520Thr) c.1462C>A (p.Pro488Thr) c.8370+123890G>T (n.8370+123890G>T) | |
2 | g.108896937T>A | CA428203880 | EDAR,RANBP2 | c.1317A>T (p.Pro439=) c.1413A>T (p.Pro471=) c.1464A>T (p.Pro488=) c.1368A>T (p.Pro456=) c.744A>T (p.Pro248=) c.1557A>T (p.Pro519=) c.1461A>T (p.Pro487=) c.8370+123891T>A (n.8370+123891T>A) | |
2 | g.108896937T>C | CA428203879 | EDAR,RANBP2 | c.1317A>G (p.Pro439=) c.1413A>G (p.Pro471=) c.1464A>G (p.Pro488=) c.1368A>G (p.Pro456=) c.744A>G (p.Pro248=) c.1557A>G (p.Pro519=) c.1461A>G (p.Pro487=) c.8370+123891T>C (n.8370+123891T>C) | |
2 | g.108896937T>G | CA1824784 | EDAR,RANBP2 | c.1317A>C (p.Pro439=) c.1413A>C (p.Pro471=) c.1464A>C (p.Pro488=) c.1368A>C (p.Pro456=) c.744A>C (p.Pro248=) c.1557A>C (p.Pro519=) c.1461A>C (p.Pro487=) c.8370+123891T>G (n.8370+123891T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108896937T= | CA1278354201 | EDAR,RANBP2 | c.1317A= (p.Pro439=) c.1413A= (p.Pro471=) c.1464A= (p.Pro488=) c.1368A= (p.Pro456=) c.744A= (p.Pro248=) c.1557A= (p.Pro519=) c.1461A= (p.Pro487=) c.8370+123891T= (n.8370+123891T=) | |
2 | g.108896938G>A | CA348047506 | EDAR,RANBP2 | c.1316C>T (p.Pro439Leu) c.1412C>T (p.Pro471Leu) c.1463C>T (p.Pro488Leu) c.1367C>T (p.Pro456Leu) c.743C>T (p.Pro248Leu) c.1556C>T (p.Pro519Leu) c.1460C>T (p.Pro487Leu) c.8370+123892G>A (n.8370+123892G>A) | |
2 | g.108896938G>C | CA348047508 | EDAR,RANBP2 | c.1316C>G (p.Pro439Arg) c.1412C>G (p.Pro471Arg) c.1463C>G (p.Pro488Arg) c.1367C>G (p.Pro456Arg) c.743C>G (p.Pro248Arg) c.1556C>G (p.Pro519Arg) c.1460C>G (p.Pro487Arg) c.8370+123892G>C (n.8370+123892G>C) | |
2 | g.108896938G>T | CA348047510 | EDAR,RANBP2 | c.1316C>A (p.Pro439Gln) c.1412C>A (p.Pro471Gln) c.1463C>A (p.Pro488Gln) c.1367C>A (p.Pro456Gln) c.743C>A (p.Pro248Gln) c.1556C>A (p.Pro519Gln) c.1460C>A (p.Pro487Gln) c.8370+123892G>T (n.8370+123892G>T) | |
2 | g.108896939G>A | CA348047513 | EDAR,RANBP2 | c.1315C>T (p.Pro439Ser) c.1411C>T (p.Pro471Ser) c.1462C>T (p.Pro488Ser) c.1366C>T (p.Pro456Ser) c.742C>T (p.Pro248Ser) c.1555C>T (p.Pro519Ser) c.1459C>T (p.Pro487Ser) c.8370+123893G>A (n.8370+123893G>A) | |
2 | g.108896939G>C | CA348047515 | EDAR,RANBP2 | c.1315C>G (p.Pro439Ala) c.1411C>G (p.Pro471Ala) c.1462C>G (p.Pro488Ala) c.1366C>G (p.Pro456Ala) c.742C>G (p.Pro248Ala) c.1555C>G (p.Pro519Ala) c.1459C>G (p.Pro487Ala) c.8370+123893G>C (n.8370+123893G>C) | |
2 | g.108896939G>T | CA348047516 | EDAR,RANBP2 | c.1315C>A (p.Pro439Thr) c.1411C>A (p.Pro471Thr) c.1462C>A (p.Pro488Thr) c.1366C>A (p.Pro456Thr) c.742C>A (p.Pro248Thr) c.1555C>A (p.Pro519Thr) c.1459C>A (p.Pro487Thr) c.8370+123893G>T (n.8370+123893G>T) | |
2 | g.108896940C>A | CA428203881 | EDAR,RANBP2 | c.1314G>T (p.Val438=) c.1410G>T (p.Val470=) c.1461G>T (p.Val487=) c.1365G>T (p.Val455=) c.741G>T (p.Val247=) c.1554G>T (p.Val518=) c.1458G>T (p.Val486=) c.8370+123894C>A (n.8370+123894C>A) | gnomAD v4 |
2 | g.108896940C= | CA1278354202 | EDAR,RANBP2 | c.1314G= (p.Val438=) c.1410G= (p.Val470=) c.1461G= (p.Val487=) c.1365G= (p.Val455=) c.741G= (p.Val247=) c.1554G= (p.Val518=) c.1458G= (p.Val486=) c.8370+123894C= (n.8370+123894C=) | |
2 | g.108896940C>G | CA428203882 | EDAR,RANBP2 | c.1314G>C (p.Val438=) c.1410G>C (p.Val470=) c.1461G>C (p.Val487=) c.1365G>C (p.Val455=) c.741G>C (p.Val247=) c.1554G>C (p.Val518=) c.1458G>C (p.Val486=) c.8370+123894C>G (n.8370+123894C>G) | gnomAD v4 |
2 | g.108896940C>T | CA53464635 | EDAR,RANBP2 | c.1314G>A (p.Val438=) c.1410G>A (p.Val470=) c.1461G>A (p.Val487=) c.1365G>A (p.Val455=) c.741G>A (p.Val247=) c.1554G>A (p.Val518=) c.1458G>A (p.Val486=) c.8370+123894C>T (n.8370+123894C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896941A>C | CA348047518 | EDAR,RANBP2 | c.1313T>G (p.Val438Gly) c.1409T>G (p.Val470Gly) c.1460T>G (p.Val487Gly) c.1364T>G (p.Val455Gly) c.740T>G (p.Val247Gly) c.1553T>G (p.Val518Gly) c.1457T>G (p.Val486Gly) c.8370+123895A>C (n.8370+123895A>C) | |
2 | g.108896941A>G | CA348047520 | EDAR,RANBP2 | c.1313T>C (p.Val438Ala) c.1409T>C (p.Val470Ala) c.1460T>C (p.Val487Ala) c.1364T>C (p.Val455Ala) c.740T>C (p.Val247Ala) c.1553T>C (p.Val518Ala) c.1457T>C (p.Val486Ala) c.8370+123895A>G (n.8370+123895A>G) | |
2 | g.108896941A>T | CA348047522 | EDAR,RANBP2 | c.1313T>A (p.Val438Glu) c.1409T>A (p.Val470Glu) c.1460T>A (p.Val487Glu) c.1364T>A (p.Val455Glu) c.740T>A (p.Val247Glu) c.1553T>A (p.Val518Glu) c.1457T>A (p.Val486Glu) c.8370+123895A>T (n.8370+123895A>T) | |
2 | g.108896942C>A | CA348047524 | EDAR,RANBP2 | c.1312G>T (p.Val438Leu) c.1408G>T (p.Val470Leu) c.1459G>T (p.Val487Leu) c.1363G>T (p.Val455Leu) c.739G>T (p.Val247Leu) c.1552G>T (p.Val518Leu) c.1456G>T (p.Val486Leu) c.8370+123896C>A (n.8370+123896C>A) | |
2 | g.108896942C>G | CA348047527 | EDAR,RANBP2 | c.1312G>C (p.Val438Leu) c.1408G>C (p.Val470Leu) c.1459G>C (p.Val487Leu) c.1363G>C (p.Val455Leu) c.739G>C (p.Val247Leu) c.1552G>C (p.Val518Leu) c.1456G>C (p.Val486Leu) c.8370+123896C>G (n.8370+123896C>G) | gnomAD v4 |
2 | g.108896942C>T | CA348047525 | EDAR,RANBP2 | c.1312G>A (p.Val438Met) c.1408G>A (p.Val470Met) c.1459G>A (p.Val487Met) c.1363G>A (p.Val455Met) c.739G>A (p.Val247Met) c.1552G>A (p.Val518Met) c.1456G>A (p.Val486Met) c.8370+123896C>T (n.8370+123896C>T) | |
2 | g.108896943A>C | CA428203883 | EDAR,RANBP2 | c.1311T>G (p.Val437=) c.1407T>G (p.Val469=) c.1458T>G (p.Val486=) c.1362T>G (p.Val454=) c.738T>G (p.Val246=) c.1551T>G (p.Val517=) c.1455T>G (p.Val485=) c.8370+123897A>C (n.8370+123897A>C) | |
2 | g.108896943A>G | CA428203884 | EDAR,RANBP2 | c.1311T>C (p.Val437=) c.1407T>C (p.Val469=) c.1458T>C (p.Val486=) c.1362T>C (p.Val454=) c.738T>C (p.Val246=) c.1551T>C (p.Val517=) c.1455T>C (p.Val485=) c.8370+123897A>G (n.8370+123897A>G) | |
2 | g.108896943A>T | CA428203885 | EDAR,RANBP2 | c.1311T>A (p.Val437=) c.1407T>A (p.Val469=) c.1458T>A (p.Val486=) c.1362T>A (p.Val454=) c.738T>A (p.Val246=) c.1551T>A (p.Val517=) c.1455T>A (p.Val485=) c.8370+123897A>T (n.8370+123897A>T) | |
2 | g.108896944A= | CA1278354203 | EDAR,RANBP2 | c.1310T= (p.Val437=) c.1406T= (p.Val469=) c.1457T= (p.Val486=) c.1361T= (p.Val454=) c.737T= (p.Val246=) c.1550T= (p.Val517=) c.1454T= (p.Val485=) c.8370+123898A= (n.8370+123898A=) | |
2 | g.108896944A>C | CA348047529 | EDAR,RANBP2 | c.1310T>G (p.Val437Gly) c.1406T>G (p.Val469Gly) c.1457T>G (p.Val486Gly) c.1361T>G (p.Val454Gly) c.737T>G (p.Val246Gly) c.1550T>G (p.Val517Gly) c.1454T>G (p.Val485Gly) c.8370+123898A>C (n.8370+123898A>C) | dbSNP |
2 | g.108896944A>G | CA1824785 | EDAR,RANBP2 | c.1310T>C (p.Val437Ala) c.1406T>C (p.Val469Ala) c.1457T>C (p.Val486Ala) c.1361T>C (p.Val454Ala) c.737T>C (p.Val246Ala) c.1550T>C (p.Val517Ala) c.1454T>C (p.Val485Ala) c.8370+123898A>G (n.8370+123898A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108896944A>T | CA348047532 | EDAR,RANBP2 | c.1310T>A (p.Val437Asp) c.1406T>A (p.Val469Asp) c.1457T>A (p.Val486Asp) c.1361T>A (p.Val454Asp) c.737T>A (p.Val246Asp) c.1550T>A (p.Val517Asp) c.1454T>A (p.Val485Asp) c.8370+123898A>T (n.8370+123898A>T) | |
2 | g.108896944_108896945delinsAC | CA1278354204 | EDAR,RANBP2 | c.1309_1310delinsGT (p.Val437=) c.1405_1406delinsGT (p.Val469=) c.1456_1457delinsGT (p.Val486=) c.1360_1361delinsGT (p.Val454=) c.736_737delinsGT (p.Val246=) c.1549_1550delinsGT (p.Val517=) c.1453_1454delinsGT (p.Val485=) c.8370+123898_8370+123899delinsAC (n.8370+123898_8370+123899delinsAC) | |
2 | g.108896945C>A | CA1824786 | EDAR,RANBP2 | c.1309G>T (p.Val437Phe) c.1405G>T (p.Val469Phe) c.1456G>T (p.Val486Phe) c.1360G>T (p.Val454Phe) c.736G>T (p.Val246Phe) c.1549G>T (p.Val517Phe) c.1453G>T (p.Val485Phe) c.8370+123899C>A (n.8370+123899C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896945C= | CA1278354205 | EDAR,RANBP2 | c.1309G= (p.Val437=) c.1405G= (p.Val469=) c.1456G= (p.Val486=) c.1360G= (p.Val454=) c.736G= (p.Val246=) c.1549G= (p.Val517=) c.1453G= (p.Val485=) c.8370+123899C= (n.8370+123899C=) | |
2 | g.108896945C>G | CA348047535 | EDAR,RANBP2 | c.1309G>C (p.Val437Leu) c.1405G>C (p.Val469Leu) c.1456G>C (p.Val486Leu) c.1360G>C (p.Val454Leu) c.736G>C (p.Val246Leu) c.1549G>C (p.Val517Leu) c.1453G>C (p.Val485Leu) c.8370+123899C>G (n.8370+123899C>G) | |
2 | g.108896945C>T | CA348047536 | EDAR,RANBP2 | c.1309G>A (p.Val437Ile) c.1405G>A (p.Val469Ile) c.1456G>A (p.Val486Ile) c.1360G>A (p.Val454Ile) c.736G>A (p.Val246Ile) c.1549G>A (p.Val517Ile) c.1453G>A (p.Val485Ile) c.8370+123899C>T (n.8370+123899C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896949del | CA754955605 | EDAR,RANBP2 | c.1309del (p.Val437LeufsTer?) c.1405del (p.Val469LeufsTer?) c.1456del (p.Val486LeufsTer?) c.1360del (p.Val454LeufsTer?) c.736del (p.Val246LeufsTer?) c.1549del (p.Val517LeufsTer?) c.1453del (p.Val485LeufsTer?) c.8370+123903del (n.8370+123903del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108896946C>A | CA1824787 | EDAR,RANBP2 | c.1308G>T (p.Gly436=) c.1404G>T (p.Gly468=) c.1455G>T (p.Gly485=) c.1359G>T (p.Gly453=) c.735G>T (p.Gly245=) c.1548G>T (p.Gly516=) c.1452G>T (p.Gly484=) c.8370+123900C>A (n.8370+123900C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108896946C= | CA1278354206 | EDAR,RANBP2 | c.1308G= (p.Gly436=) c.1404G= (p.Gly468=) c.1455G= (p.Gly485=) c.1359G= (p.Gly453=) c.735G= (p.Gly245=) c.1548G= (p.Gly516=) c.1452G= (p.Gly484=) c.8370+123900C= (n.8370+123900C=) | |
2 | g.108896946C>G | CA428203886 | EDAR,RANBP2 | c.1308G>C (p.Gly436=) c.1404G>C (p.Gly468=) c.1455G>C (p.Gly485=) c.1359G>C (p.Gly453=) c.735G>C (p.Gly245=) c.1548G>C (p.Gly516=) c.1452G>C (p.Gly484=) c.8370+123900C>G (n.8370+123900C>G) | |
2 | g.108896946C>T | CA428203887 | EDAR,RANBP2 | c.1308G>A (p.Gly436=) c.1404G>A (p.Gly468=) c.1455G>A (p.Gly485=) c.1359G>A (p.Gly453=) c.735G>A (p.Gly245=) c.1548G>A (p.Gly516=) c.1452G>A (p.Gly484=) c.8370+123900C>T (n.8370+123900C>T) | |
2 | g.108896947C>A | CA348047539 | EDAR,RANBP2 | c.1307G>T (p.Gly436Val) c.1403G>T (p.Gly468Val) c.1454G>T (p.Gly485Val) c.1358G>T (p.Gly453Val) c.734G>T (p.Gly245Val) c.1547G>T (p.Gly516Val) c.1451G>T (p.Gly484Val) c.8370+123901C>A (n.8370+123901C>A) | |
2 | g.108896947C= | CA1278354207 | EDAR,RANBP2 | c.1307G= (p.Gly436=) c.1403G= (p.Gly468=) c.1454G= (p.Gly485=) c.1358G= (p.Gly453=) c.734G= (p.Gly245=) c.1547G= (p.Gly516=) c.1451G= (p.Gly484=) c.8370+123901C= (n.8370+123901C=) | |
2 | g.108896947C>G | CA348047541 | EDAR,RANBP2 | c.1307G>C (p.Gly436Ala) c.1403G>C (p.Gly468Ala) c.1454G>C (p.Gly485Ala) c.1358G>C (p.Gly453Ala) c.734G>C (p.Gly245Ala) c.1547G>C (p.Gly516Ala) c.1451G>C (p.Gly484Ala) c.8370+123901C>G (n.8370+123901C>G) | gnomAD v4 |
2 | g.108896947C>T | CA348047543 | EDAR,RANBP2 | c.1307G>A (p.Gly436Glu) c.1403G>A (p.Gly468Glu) c.1454G>A (p.Gly485Glu) c.1358G>A (p.Gly453Glu) c.734G>A (p.Gly245Glu) c.1547G>A (p.Gly516Glu) c.1451G>A (p.Gly484Glu) c.8370+123901C>T (n.8370+123901C>T) | dbSNP gnomAD v4 |
2 | g.108896948C>A | CA348047548 | EDAR,RANBP2 | c.1306G>T (p.Gly436Trp) c.1402G>T (p.Gly468Trp) c.1453G>T (p.Gly485Trp) c.1357G>T (p.Gly453Trp) c.733G>T (p.Gly245Trp) c.1546G>T (p.Gly516Trp) c.1450G>T (p.Gly484Trp) c.8370+123902C>A (n.8370+123902C>A) | gnomAD v4 |
2 | g.108896948C>G | CA348047546 | EDAR,RANBP2 | c.1306G>C (p.Gly436Arg) c.1402G>C (p.Gly468Arg) c.1453G>C (p.Gly485Arg) c.1357G>C (p.Gly453Arg) c.733G>C (p.Gly245Arg) c.1546G>C (p.Gly516Arg) c.1450G>C (p.Gly484Arg) c.8370+123902C>G (n.8370+123902C>G) | |
2 | g.108896948C>T | CA348047545 | EDAR,RANBP2 | c.1306G>A (p.Gly436Arg) c.1402G>A (p.Gly468Arg) c.1453G>A (p.Gly485Arg) c.1357G>A (p.Gly453Arg) c.733G>A (p.Gly245Arg) c.1546G>A (p.Gly516Arg) c.1450G>A (p.Gly484Arg) c.8370+123902C>T (n.8370+123902C>T) | |
2 | g.108896949C>A | CA428203888 | EDAR,RANBP2 | c.1305G>T (p.Ala435=) c.1401G>T (p.Ala467=) c.1452G>T (p.Ala484=) c.1356G>T (p.Ala452=) c.732G>T (p.Ala244=) c.1545G>T (p.Ala515=) c.1449G>T (p.Ala483=) c.8370+123903C>A (n.8370+123903C>A) | |
2 | g.108896949C= | CA1278354208 | EDAR,RANBP2 | c.1305G= (p.Ala435=) c.1401G= (p.Ala467=) c.1452G= (p.Ala484=) c.1356G= (p.Ala452=) c.732G= (p.Ala244=) c.1545G= (p.Ala515=) c.1449G= (p.Ala483=) c.8370+123903C= (n.8370+123903C=) | |
2 | g.108896949C>G | CA428203889 | EDAR,RANBP2 | c.1305G>C (p.Ala435=) c.1401G>C (p.Ala467=) c.1452G>C (p.Ala484=) c.1356G>C (p.Ala452=) c.732G>C (p.Ala244=) c.1545G>C (p.Ala515=) c.1449G>C (p.Ala483=) c.8370+123903C>G (n.8370+123903C>G) | gnomAD v4 |
2 | g.108896949C>T | CA1824788 | EDAR,RANBP2 | c.1305G>A (p.Ala435=) c.1401G>A (p.Ala467=) c.1452G>A (p.Ala484=) c.1356G>A (p.Ala452=) c.732G>A (p.Ala244=) c.1545G>A (p.Ala515=) c.1449G>A (p.Ala483=) c.8370+123903C>T (n.8370+123903C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896950G>A | CA1824789 | EDAR,RANBP2 | c.1304C>T (p.Ala435Val) c.1400C>T (p.Ala467Val) c.1451C>T (p.Ala484Val) c.1355C>T (p.Ala452Val) c.731C>T (p.Ala244Val) c.1544C>T (p.Ala515Val) c.1448C>T (p.Ala483Val) c.8370+123904G>A (n.8370+123904G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896950G>C | CA348047553 | EDAR,RANBP2 | c.1304C>G (p.Ala435Gly) c.1400C>G (p.Ala467Gly) c.1451C>G (p.Ala484Gly) c.1355C>G (p.Ala452Gly) c.731C>G (p.Ala244Gly) c.1544C>G (p.Ala515Gly) c.1448C>G (p.Ala483Gly) c.8370+123904G>C (n.8370+123904G>C) | |
2 | g.108896950G= | CA1278354209 | EDAR,RANBP2 | c.1304C= (p.Ala435=) c.1400C= (p.Ala467=) c.1451C= (p.Ala484=) c.1355C= (p.Ala452=) c.731C= (p.Ala244=) c.1544C= (p.Ala515=) c.1448C= (p.Ala483=) c.8370+123904G= (n.8370+123904G=) | |
2 | g.108896950G>T | CA348047554 | EDAR,RANBP2 | c.1304C>A (p.Ala435Glu) c.1400C>A (p.Ala467Glu) c.1451C>A (p.Ala484Glu) c.1355C>A (p.Ala452Glu) c.731C>A (p.Ala244Glu) c.1544C>A (p.Ala515Glu) c.1448C>A (p.Ala483Glu) c.8370+123904G>T (n.8370+123904G>T) | |
2 | g.108896951C>A | CA348047557 | EDAR,RANBP2 | c.1303G>T (p.Ala435Ser) c.1399G>T (p.Ala467Ser) c.1450G>T (p.Ala484Ser) c.1354G>T (p.Ala452Ser) c.730G>T (p.Ala244Ser) c.1543G>T (p.Ala515Ser) c.1447G>T (p.Ala483Ser) c.8370+123905C>A (n.8370+123905C>A) | |
2 | g.108896951C>G | CA348047559 | EDAR,RANBP2 | c.1303G>C (p.Ala435Pro) c.1399G>C (p.Ala467Pro) c.1450G>C (p.Ala484Pro) c.1354G>C (p.Ala452Pro) c.730G>C (p.Ala244Pro) c.1543G>C (p.Ala515Pro) c.1447G>C (p.Ala483Pro) c.8370+123905C>G (n.8370+123905C>G) | |
2 | g.108896951C>T | CA348047561 | EDAR,RANBP2 | c.1303G>A (p.Ala435Thr) c.1399G>A (p.Ala467Thr) c.1450G>A (p.Ala484Thr) c.1354G>A (p.Ala452Thr) c.730G>A (p.Ala244Thr) c.1543G>A (p.Ala515Thr) c.1447G>A (p.Ala483Thr) c.8370+123905C>T (n.8370+123905C>T) |