Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.146018403dup | CA1053924 | HJV | c.960dup (p.Cys321ValfsTer21) c.282dup (p.Cys95ValfsTer21) c.621dup (p.Cys208ValfsTer21) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018403del | CA526253952 | HJV | c.960del (p.Cys321AlafsTer18) c.282del (p.Cys95AlafsTer18) c.621del (p.Cys208AlafsTer18) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.146018399C>A | CA252249 | HJV | c.959G>T (p.Gly320Val) c.281G>T (p.Gly94Val) c.620G>T (p.Gly207Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018399C= | CA1140886749 | HJV | c.959G= (p.Gly320=) c.281G= (p.Gly94=) c.620G= (p.Gly207=) | |
1 | g.146018399C>G | CA342135108 | HJV | c.959G>C (p.Gly320Ala) c.281G>C (p.Gly94Ala) c.620G>C (p.Gly207Ala) | gnomAD v4 |
1 | g.146018399C>T | CA342135102 | HJV | c.959G>A (p.Gly320Glu) c.281G>A (p.Gly94Glu) c.620G>A (p.Gly207Glu) | gnomAD v4 |
1 | g.146018400C>A | CA1053926 | HJV | c.958G>T (p.Gly320Trp) c.280G>T (p.Gly94Trp) c.619G>T (p.Gly207Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018400C= | CA1198820952 | HJV | c.958G= (p.Gly320=) c.280G= (p.Gly94=) c.619G= (p.Gly207=) | |
1 | g.146018400C>G | CA29823639 | HJV | c.958G>C (p.Gly320Arg) c.280G>C (p.Gly94Arg) c.619G>C (p.Gly207Arg) | |
1 | g.146018400C>T | CA29823642 | HJV | c.958G>A (p.Gly320Arg) c.280G>A (p.Gly94Arg) c.619G>A (p.Gly207Arg) | gnomAD v4 |
1 | g.146018401C>A | CA420603383 | HJV | c.957G>T (p.Gly319=) c.279G>T (p.Gly93=) c.618G>T (p.Gly206=) | |
1 | g.146018401C>G | CA420603384 | HJV | c.957G>C (p.Gly319=) c.279G>C (p.Gly93=) c.618G>C (p.Gly206=) | |
1 | g.146018401C>T | CA420603382 | HJV | c.957G>A (p.Gly319=) c.279G>A (p.Gly93=) c.618G>A (p.Gly206=) | |
1 | g.146018402C>A | CA342135136 | HJV | c.956G>T (p.Gly319Val) c.278G>T (p.Gly93Val) c.617G>T (p.Gly206Val) | |
1 | g.146018402C= | CA1141668450 | HJV | c.956G= (p.Gly319=) c.278G= (p.Gly93=) c.617G= (p.Gly206=) | |
1 | g.146018402C>G | CA1053925 | HJV | c.956G>C (p.Gly319Ala) c.278G>C (p.Gly93Ala) c.617G>C (p.Gly206Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018402C>T | CA342135140 | HJV | c.956G>A (p.Gly319Glu) c.278G>A (p.Gly93Glu) c.617G>A (p.Gly206Glu) | COSMIC |
1 | g.146018402_146018403insG | CA342135141 | HJV | c.955_956insC (p.Gly319AlafsTer23) c.277_278insC (p.Gly93AlafsTer23) c.616_617insC (p.Gly206AlafsTer23) | |
1 | g.146018403C>A | CA342135149 | HJV | c.955G>T (p.Gly319Trp) c.277G>T (p.Gly93Trp) c.616G>T (p.Gly206Trp) | |
1 | g.146018403C= | CA1198820953 | HJV | c.955G= (p.Gly319=) c.277G= (p.Gly93=) c.616G= (p.Gly206=) | |
1 | g.146018403C>G | CA342135148 | HJV | c.955G>C (p.Gly319Arg) c.277G>C (p.Gly93Arg) c.616G>C (p.Gly206Arg) | |
1 | g.146018403C>T | CA342135143 | HJV | c.955G>A (p.Gly319Arg) c.277G>A (p.Gly93Arg) c.616G>A (p.Gly206Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.146018403_146018404insG | CA29823652 | HJV | c.954_955insC (p.Gly319ArgfsTer23) c.276_277insC (p.Gly93ArgfsTer23) c.615_616insC (p.Gly206ArgfsTer23) | |
1 | g.146018404A= | CA1198820954 | HJV | c.954T= (p.Val318=) c.276T= (p.Val92=) c.615T= (p.Val205=) | |
1 | g.146018404A>C | CA420603389 | HJV | c.954T>G (p.Val318=) c.276T>G (p.Val92=) c.615T>G (p.Val205=) | |
1 | g.146018404A>G | CA420603388 | HJV | c.954T>C (p.Val318=) c.276T>C (p.Val92=) c.615T>C (p.Val205=) | gnomAD v4 |
1 | g.146018404A>T | CA420603390 | HJV | c.954T>A (p.Val318=) c.276T>A (p.Val92=) c.615T>A (p.Val205=) | dbSNP gnomAD v4 |
1 | g.146018405A= | CA1198820955 | HJV | c.953T= (p.Val318=) c.275T= (p.Val92=) c.614T= (p.Val205=) | |
1 | g.146018405A>C | CA342135167 | HJV | c.953T>G (p.Val318Gly) c.275T>G (p.Val92Gly) c.614T>G (p.Val205Gly) | |
1 | g.146018405A>G | CA342135173 | HJV | c.953T>C (p.Val318Ala) c.275T>C (p.Val92Ala) c.614T>C (p.Val205Ala) | dbSNP gnomAD v4 |
1 | g.146018405A>T | CA342135180 | HJV | c.953T>A (p.Val318Asp) c.275T>A (p.Val92Asp) c.614T>A (p.Val205Asp) | |
1 | g.146018406C>A | CA342135184 | HJV | c.952G>T (p.Val318Phe) c.274G>T (p.Val92Phe) c.613G>T (p.Val205Phe) | |
1 | g.146018406C>G | CA342135188 | HJV | c.952G>C (p.Val318Leu) c.274G>C (p.Val92Leu) c.613G>C (p.Val205Leu) | |
1 | g.146018406C>T | CA342135191 | HJV | c.952G>A (p.Val318Ile) c.274G>A (p.Val92Ile) c.613G>A (p.Val205Ile) | gnomAD v4 |
1 | g.146018407A>C | CA342135197 | HJV | c.951T>G (p.Cys317Trp) c.273T>G (p.Cys91Trp) c.612T>G (p.Cys204Trp) | |
1 | g.146018407A>G | CA420603395 | HJV | c.951T>C (p.Cys317=) c.273T>C (p.Cys91=) c.612T>C (p.Cys204=) | |
1 | g.146018407A>T | CA342135215 | HJV | c.951T>A (p.Cys317Ter) c.273T>A (p.Cys91Ter) c.612T>A (p.Cys204Ter) | |
1 | g.146018408C>A | CA342135227 | HJV | c.950G>T (p.Cys317Phe) c.272G>T (p.Cys91Phe) c.611G>T (p.Cys204Phe) | |
1 | g.146018408C= | CA1198820956 | HJV | c.950G= (p.Cys317=) c.272G= (p.Cys91=) c.611G= (p.Cys204=) | |
1 | g.146018408C>G | CA342135226 | HJV | c.950G>C (p.Cys317Ser) c.272G>C (p.Cys91Ser) c.611G>C (p.Cys204Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018408C>T | CA342135224 | HJV | c.950G>A (p.Cys317Tyr) c.272G>A (p.Cys91Tyr) c.611G>A (p.Cys204Tyr) | ClinVar dbSNP |
1 | g.146018409A>C | CA342135229 | HJV | c.949T>G (p.Cys317Gly) c.271T>G (p.Cys91Gly) c.610T>G (p.Cys204Gly) | |
1 | g.146018409A>G | CA342135245 | HJV | c.949T>C (p.Cys317Arg) c.271T>C (p.Cys91Arg) c.610T>C (p.Cys204Arg) | |
1 | g.146018409A>T | CA342135244 | HJV | c.949T>A (p.Cys317Ser) c.271T>A (p.Cys91Ser) c.610T>A (p.Cys204Ser) | |
1 | g.146018410G>A | CA420603400 | HJV | c.948C>T (p.Leu316=) c.270C>T (p.Leu90=) c.609C>T (p.Leu203=) | |
1 | g.146018410G>C | CA420603401 | HJV | c.948C>G (p.Leu316=) c.270C>G (p.Leu90=) c.609C>G (p.Leu203=) | |
1 | g.146018410G>T | CA420603399 | HJV | c.948C>A (p.Leu316=) c.270C>A (p.Leu90=) c.609C>A (p.Leu203=) | |
1 | g.146018411A>C | CA342135246 | HJV | c.947T>G (p.Leu316Arg) c.269T>G (p.Leu90Arg) c.608T>G (p.Leu203Arg) | |
1 | g.146018411A>G | CA342135248 | HJV | c.947T>C (p.Leu316Pro) c.269T>C (p.Leu90Pro) c.608T>C (p.Leu203Pro) | |
1 | g.146018411A>T | CA342135247 | HJV | c.947T>A (p.Leu316His) c.269T>A (p.Leu90His) c.608T>A (p.Leu203His) |