Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.108896811C>A | CA2660593135 | EDAR,RANBP2 | c.*96G>T (n.*96G>T) c.8370+123765C>A (n.8370+123765C>A) | gnomAD v4 |
2 | g.108896811C>G | CA2660593136 | EDAR,RANBP2 | c.*96G>C (n.*96G>C) c.8370+123765C>G (n.8370+123765C>G) | gnomAD v4 |
2 | g.108896812C>T | CA2660593137 | EDAR,RANBP2 | c.*95G>A (n.*95G>A) c.8370+123766C>T (n.8370+123766C>T) | gnomAD v4 |
2 | g.108896815G>A | CA2660593138 | EDAR,RANBP2 | c.*92C>T (n.*92C>T) c.8370+123769G>A (n.8370+123769G>A) | gnomAD v4 |
2 | g.108896815G>T | CA2577065469 | EDAR,RANBP2 | c.*92C>A (n.*92C>A) c.8370+123769G>T (n.8370+123769G>T) | gnomAD v4 |
2 | g.108896818T>C | CA2751631988 | EDAR,RANBP2 | c.*89A>G (n.*89A>G) c.8370+123772T>C (n.8370+123772T>C) | |
2 | g.108896819C>A | CA754955470 | EDAR,RANBP2 | c.*88G>T (n.*88G>T) c.8370+123773C>A (n.8370+123773C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108896819C= | CA1278354143 | EDAR,RANBP2 | c.*88G= (n.*88G=) c.8370+123773C= (n.8370+123773C=) | |
2 | g.108896819C>T | CA2660593139 | EDAR,RANBP2 | c.*88G>A (n.*88G>A) c.8370+123773C>T (n.8370+123773C>T) | gnomAD v4 |
2 | g.108896820_108896821dup | CA2660593140 | EDAR,RANBP2 | c.*86_*87dup (n.*86_*87dup) c.8370+123774_8370+123775dup (n.8370+123774_8370+123775dup) | gnomAD v4 |
2 | g.108896822G>A | CA2577065470 | EDAR,RANBP2 | c.*85C>T (n.*85C>T) c.8370+123776G>A (n.8370+123776G>A) | gnomAD v4 |
2 | g.108896822G>T | CA2577065471 | EDAR,RANBP2 | c.*85C>A (n.*85C>A) c.8370+123776G>T (n.8370+123776G>T) | gnomAD v4 |
2 | g.108896823G>A | CA2660593141 | EDAR,RANBP2 | c.*84C>T (n.*84C>T) c.8370+123777G>A (n.8370+123777G>A) | gnomAD v4 |
2 | g.108896823G>T | CA2577065472 | EDAR,RANBP2 | c.*84C>A (n.*84C>A) c.8370+123777G>T (n.8370+123777G>T) | gnomAD v4 |
2 | g.108896824C>A | CA2660593142 | EDAR,RANBP2 | c.*83G>T (n.*83G>T) c.8370+123778C>A (n.8370+123778C>A) | gnomAD v4 |
2 | g.108896825A= | CA1278354144 | EDAR,RANBP2 | c.*82T= (n.*82T=) c.8370+123779A= (n.8370+123779A=) | |
2 | g.108896825A>C | CA754955476 | EDAR,RANBP2 | c.*82T>G (n.*82T>G) c.8370+123779A>C (n.8370+123779A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108896826G>A | CA1278354146 | EDAR,RANBP2 | c.*81C>T (n.*81C>T) c.8370+123780G>A (n.8370+123780G>A) | dbSNP |
2 | g.108896826G= | CA1278354145 | EDAR,RANBP2 | c.*81C= (n.*81C=) c.8370+123780G= (n.8370+123780G=) | |
2 | g.108896826G>T | CA2660593143 | EDAR,RANBP2 | c.*81C>A (n.*81C>A) c.8370+123780G>T (n.8370+123780G>T) | gnomAD v4 |
2 | g.108896827T>C | CA1034837394 | EDAR,RANBP2 | c.*80A>G (n.*80A>G) c.8370+123781T>C (n.8370+123781T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108896827T>G | CA53464542 | EDAR,RANBP2 | c.*80A>C (n.*80A>C) c.8370+123781T>G (n.8370+123781T>G) | dbSNP gnomAD v4 |
2 | g.108896827T= | CA1278354147 | EDAR,RANBP2 | c.*80A= (n.*80A=) c.8370+123781T= (n.8370+123781T=) | |
2 | g.108896828C>A | CA2660593144 | EDAR,RANBP2 | c.*79G>T (n.*79G>T) c.8370+123782C>A (n.8370+123782C>A) | gnomAD v4 |
2 | g.108896829T>C | CA2660593146 | EDAR,RANBP2 | c.*78A>G (n.*78A>G) c.8370+123783T>C (n.8370+123783T>C) | gnomAD v4 |
2 | g.108896832del | CA2660593145 | EDAR,RANBP2 | c.*78del (n.*78del) c.8370+123786del (n.8370+123786del) | gnomAD v4 |
2 | g.108896831T>C | CA2660593147 | EDAR,RANBP2 | c.*76A>G (n.*76A>G) c.8370+123785T>C (n.8370+123785T>C) | gnomAD v4 |
2 | g.108896832T>C | CA1278354148 | EDAR,RANBP2 | c.*75A>G (n.*75A>G) c.8370+123786T>C (n.8370+123786T>C) | dbSNP gnomAD v4 |
2 | g.108896832T= | CA1278354149 | EDAR,RANBP2 | c.*75A= (n.*75A=) c.8370+123786T= (n.8370+123786T=) | |
2 | g.108896833G>T | CA2577065475 | EDAR,RANBP2 | c.*74C>A (n.*74C>A) c.8370+123787G>T (n.8370+123787G>T) | gnomAD v4 |
2 | g.108896834G>A | CA53464544 | EDAR,RANBP2 | c.*73C>T (n.*73C>T) c.8370+123788G>A (n.8370+123788G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896834G= | CA1278354150 | EDAR,RANBP2 | c.*73C= (n.*73C=) c.8370+123788G= (n.8370+123788G=) | |
2 | g.108896834G>T | CA646946561 | EDAR,RANBP2 | c.*73C>A (n.*73C>A) c.8370+123788G>T (n.8370+123788G>T) | gnomAD v4 COSMIC |
2 | g.108896835C>A | CA2660593148 | EDAR,RANBP2 | c.*72G>T (n.*72G>T) c.8370+123789C>A (n.8370+123789C>A) | gnomAD v4 |
2 | g.108896835C>T | CA2660593149 | EDAR,RANBP2 | c.*72G>A (n.*72G>A) c.8370+123789C>T (n.8370+123789C>T) | gnomAD v4 |
2 | g.108896836A>G | CA2660593150 | EDAR,RANBP2 | c.*71T>C (n.*71T>C) c.8370+123790A>G (n.8370+123790A>G) | gnomAD v4 |
2 | g.108896837C>A | CA2660593151 | EDAR,RANBP2 | c.*70G>T (n.*70G>T) c.8370+123791C>A (n.8370+123791C>A) | gnomAD v4 |
2 | g.108896837C= | CA1278354151 | EDAR,RANBP2 | c.*70G= (n.*70G=) c.8370+123791C= (n.8370+123791C=) | |
2 | g.108896837C>G | CA1278354152 | EDAR,RANBP2 | c.*70G>C (n.*70G>C) c.8370+123791C>G (n.8370+123791C>G) | dbSNP gnomAD v4 |
2 | g.108896838C>A | CA2660593154 | EDAR,RANBP2 | c.*69G>T (n.*69G>T) c.8370+123792C>A (n.8370+123792C>A) | gnomAD v4 |
2 | g.108896838C= | CA1278354153 | EDAR,RANBP2 | c.*69G= (n.*69G=) c.8370+123792C= (n.8370+123792C=) | |
2 | g.108896838C>T | CA53464549 | EDAR,RANBP2 | c.*69G>A (n.*69G>A) c.8370+123792C>T (n.8370+123792C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108896841_108896844dup | CA2660593156 | EDAR,RANBP2 | c.*66_*69dup (n.*66_*69dup) c.8370+123795_8370+123798dup (n.8370+123795_8370+123798dup) | gnomAD v4 |
2 | g.108896839A= | CA1278354154 | EDAR,RANBP2 | c.*68T= (n.*68T=) c.8370+123793A= (n.8370+123793A=) | |
2 | g.108896839A>T | CA53464556 | EDAR,RANBP2 | c.*68T>A (n.*68T>A) c.8370+123793A>T (n.8370+123793A>T) | dbSNP gnomAD v4 |
2 | g.108896840C>A | CA2660593158 | EDAR,RANBP2 | c.*67G>T (n.*67G>T) c.8370+123794C>A (n.8370+123794C>A) | gnomAD v4 |
2 | g.108896840C>T | CA2660593159 | EDAR,RANBP2 | c.*67G>A (n.*67G>A) c.8370+123794C>T (n.8370+123794C>T) | gnomAD v4 |
2 | g.108896841T>A | CA2660593160 | EDAR,RANBP2 | c.*66A>T (n.*66A>T) c.8370+123795T>A (n.8370+123795T>A) | dbSNP gnomAD v4 |
2 | g.108896841T>C | CA2660593161 | EDAR,RANBP2 | c.*66A>G (n.*66A>G) c.8370+123795T>C (n.8370+123795T>C) | gnomAD v4 |
2 | g.108896842C>A | CA2660593165 | EDAR,RANBP2 | c.*65G>T (n.*65G>T) c.8370+123796C>A (n.8370+123796C>A) | gnomAD v4 |
2 | g.108896842C= | CA1278354156 | EDAR,RANBP2 | c.*65G= (n.*65G=) c.8370+123796C= (n.8370+123796C=) | |
2 | g.108896842C>G | CA2660593166 | EDAR,RANBP2 | c.*65G>C (n.*65G>C) c.8370+123796C>G (n.8370+123796C>G) | gnomAD v4 |
2 | g.108896842C>T | CA1278354155 | EDAR,RANBP2 | c.*65G>A (n.*65G>A) c.8370+123796C>T (n.8370+123796C>T) | dbSNP gnomAD v4 |
2 | g.108896844_108896845del | CA2660593164 | EDAR,RANBP2 | c.*64_*65del (n.*64_*65del) c.8370+123798_8370+123799del (n.8370+123798_8370+123799del) | gnomAD v4 |
2 | g.108896843A>T | CA2660593169 | EDAR,RANBP2 | c.*64T>A (n.*64T>A) c.8370+123797A>T (n.8370+123797A>T) | gnomAD v4 |
2 | g.108896844C>A | CA2660593170 | EDAR,RANBP2 | c.*63G>T (n.*63G>T) c.8370+123798C>A (n.8370+123798C>A) | gnomAD v4 |
2 | g.108896844C>G | CA2660593171 | EDAR,RANBP2 | c.*63G>C (n.*63G>C) c.8370+123798C>G (n.8370+123798C>G) | gnomAD v4 |
2 | g.108896844C>T | CA2660593173 | EDAR,RANBP2 | c.*63G>A (n.*63G>A) c.8370+123798C>T (n.8370+123798C>T) | gnomAD v4 |
2 | g.108896845A>G | CA2577065478 | EDAR,RANBP2 | c.*62T>C (n.*62T>C) c.8370+123799A>G (n.8370+123799A>G) | gnomAD v4 |
2 | g.108896845A>T | CA2660593174 | EDAR,RANBP2 | c.*62T>A (n.*62T>A) c.8370+123799A>T (n.8370+123799A>T) | gnomAD v4 |
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.108896846G>A | CA2660593175 | EDAR,RANBP2 | c.*61C>T (n.*61C>T) c.8370+123800G>A (n.8370+123800G>A) | gnomAD v4 |
2 | g.108896846G>T | CA2660593176 | EDAR,RANBP2 | c.*61C>A (n.*61C>A) c.8370+123800G>T (n.8370+123800G>T) | gnomAD v4 |
2 | g.108896847C>A | CA2660593179 | EDAR,RANBP2 | c.*60G>T (n.*60G>T) c.8370+123801C>A (n.8370+123801C>A) | gnomAD v4 |
2 | g.108896847C>T | CA2660593181 | EDAR,RANBP2 | c.*60G>A (n.*60G>A) c.8370+123801C>T (n.8370+123801C>T) | gnomAD v4 |
2 | g.108896848T>A | CA2660593182 | EDAR,RANBP2 | c.*59A>T (n.*59A>T) c.8370+123802T>A (n.8370+123802T>A) | gnomAD v4 |
2 | g.108896849C>A | CA2660593183 | EDAR,RANBP2 | c.*58G>T (n.*58G>T) c.8370+123803C>A (n.8370+123803C>A) | gnomAD v4 |
2 | g.108896850C>A | CA2660593185 | EDAR,RANBP2 | c.*57G>T (n.*57G>T) c.8370+123804C>A (n.8370+123804C>A) | gnomAD v4 |
2 | g.108896850C>T | CA2660593187 | EDAR,RANBP2 | c.*57G>A (n.*57G>A) c.8370+123804C>T (n.8370+123804C>T) | gnomAD v4 |
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) |