Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.146018372_146018376delinsCGAGA | CA1198820941 | HJV | c.982_986delinsTCTCG (p.Ser328=) c.304_308delinsTCTCG (p.Ser102=) c.643_647delinsTCTCG (p.Ser215=) | |
1 | g.146018378_146018379del | CA2580611193 | HJV | c.984_985del (p.Arg329IlefsTer12) c.306_307del (p.Arg103IlefsTer12) c.645_646del (p.Arg216IlefsTer12) | ClinVar dbSNP |
1 | g.146018376_146018379del | CA252259 | HJV | c.982_985del (p.Ser328AspfsTer10) c.304_307del (p.Ser102AspfsTer10) c.643_646del (p.Ser215AspfsTer10) | ClinVar dbSNP |
1 | g.146018375G>A | CA342134856 | HJV | c.983C>T (p.Ser328Phe) c.305C>T (p.Ser102Phe) c.644C>T (p.Ser215Phe) | gnomAD v3 gnomAD v4 |
1 | g.146018375G>C | CA342134851 | HJV | c.983C>G (p.Ser328Cys) c.305C>G (p.Ser102Cys) c.644C>G (p.Ser215Cys) | |
1 | g.146018375G>T | CA342134847 | HJV | c.983C>A (p.Ser328Tyr) c.305C>A (p.Ser102Tyr) c.644C>A (p.Ser215Tyr) | |
1 | g.146018376A= | CA1198820943 | HJV | c.982T= (p.Ser328=) c.304T= (p.Ser102=) c.643T= (p.Ser215=) | |
1 | g.146018376A>C | CA342134858 | HJV | c.982T>G (p.Ser328Ala) c.304T>G (p.Ser102Ala) c.643T>G (p.Ser215Ala) | |
1 | g.146018376A>G | CA342134861 | HJV | c.982T>C (p.Ser328Pro) c.304T>C (p.Ser102Pro) c.643T>C (p.Ser215Pro) | gnomAD v4 |
1 | g.146018376A>T | CA1053933 | HJV | c.982T>A (p.Ser328Thr) c.304T>A (p.Ser102Thr) c.643T>A (p.Ser215Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018377G>A | CA420603346 | HJV | c.981C>T (p.Leu327=) c.303C>T (p.Leu101=) c.642C>T (p.Leu214=) | |
1 | g.146018377G>C | CA1053932 | HJV | c.981C>G (p.Leu327=) c.303C>G (p.Leu101=) c.642C>G (p.Leu214=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018377G= | CA1198820944 | HJV | c.981C= (p.Leu327=) c.303C= (p.Leu101=) c.642C= (p.Leu214=) | |
1 | g.146018377G>T | CA420603344 | HJV | c.981C>A (p.Leu327=) c.303C>A (p.Leu101=) c.642C>A (p.Leu214=) | |
1 | g.146018378A= | CA1198820945 | HJV | c.980T= (p.Leu327=) c.302T= (p.Leu101=) c.641T= (p.Leu214=) | |
1 | g.146018378A>C | CA29823557 | HJV | c.980T>G (p.Leu327Arg) c.302T>G (p.Leu101Arg) c.641T>G (p.Leu214Arg) | |
1 | g.146018378A>G | CA1053931 | HJV | c.980T>C (p.Leu327Pro) c.302T>C (p.Leu101Pro) c.641T>C (p.Leu214Pro) | dbSNP ExAC gnomAD v2 |
1 | g.146018378A>T | CA29823562 | HJV | c.980T>A (p.Leu327His) c.302T>A (p.Leu101His) c.641T>A (p.Leu214His) | |
1 | g.146018379G>A | CA342134883 | HJV | c.979C>T (p.Leu327Phe) c.301C>T (p.Leu101Phe) c.640C>T (p.Leu214Phe) | gnomAD v4 |
1 | g.146018379G>C | CA342134886 | HJV | c.979C>G (p.Leu327Val) c.301C>G (p.Leu101Val) c.640C>G (p.Leu214Val) | |
1 | g.146018379G>T | CA342134888 | HJV | c.979C>A (p.Leu327Ile) c.301C>A (p.Leu101Ile) c.640C>A (p.Leu214Ile) | |
1 | g.146018379_146018380del | CA2647575282 | HJV | c.978_979del (p.Arg329IlefsTer12) c.300_301del (p.Arg103IlefsTer12) c.639_640del (p.Arg216IlefsTer12) | gnomAD v4 |
1 | g.146018380del | CA2647575285 | HJV | c.978del (p.Leu327SerfsTer12) c.300del (p.Leu101SerfsTer12) c.639del (p.Leu214SerfsTer12) | gnomAD v4 |
1 | g.146018380T>A | CA420603353 | HJV | c.978A>T (p.Arg326=) c.300A>T (p.Arg100=) c.639A>T (p.Arg213=) | |
1 | g.146018380T>C | CA420603351 | HJV | c.978A>G (p.Arg326=) c.300A>G (p.Arg100=) c.639A>G (p.Arg213=) | |
1 | g.146018380T>G | CA420603350 | HJV | c.978A>C (p.Arg326=) c.300A>C (p.Arg100=) c.639A>C (p.Arg213=) | |
1 | g.146018381C>A | CA29823571 | HJV | c.977G>T (p.Arg326Leu) c.299G>T (p.Arg100Leu) c.638G>T (p.Arg213Leu) | gnomAD v4 |
1 | g.146018381C= | CA1198820946 | HJV | c.977G= (p.Arg326=) c.299G= (p.Arg100=) c.638G= (p.Arg213=) | |
1 | g.146018381C>G | CA29823574 | HJV | c.977G>C (p.Arg326Pro) c.299G>C (p.Arg100Pro) c.638G>C (p.Arg213Pro) | gnomAD v4 |
1 | g.146018381C>T | CA1053930 | HJV | c.977G>A (p.Arg326Gln) c.299G>A (p.Arg100Gln) c.638G>A (p.Arg213Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018382G>A | CA252250 | HJV | c.976C>T (p.Arg326Ter) c.298C>T (p.Arg100Ter) c.637C>T (p.Arg213Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.146018382G>C | CA342134906 | HJV | c.976C>G (p.Arg326Gly) c.298C>G (p.Arg100Gly) c.637C>G (p.Arg213Gly) | |
1 | g.146018382G= | CA1140886747 | HJV | c.976C= (p.Arg326=) c.298C= (p.Arg100=) c.637C= (p.Arg213=) | |
1 | g.146018382G>T | CA420603356 | HJV | c.976C>A (p.Arg326=) c.298C>A (p.Arg100=) c.637C>A (p.Arg213=) | |
1 | g.146018383C>A | CA342134913 | HJV | c.975G>T (p.Gln325His) c.297G>T (p.Gln99His) c.636G>T (p.Gln212His) | dbSNP |
1 | g.146018383C>G | CA342134929 | HJV | c.975G>C (p.Gln325His) c.297G>C (p.Gln99His) c.636G>C (p.Gln212His) | dbSNP gnomAD v4 |
1 | g.146018383C>T | CA420603357 | HJV | c.975G>A (p.Gln325=) c.297G>A (p.Gln99=) c.636G>A (p.Gln212=) | |
1 | g.146018384T>A | CA342134937 | HJV | c.974A>T (p.Gln325Leu) c.296A>T (p.Gln99Leu) c.635A>T (p.Gln212Leu) | |
1 | g.146018384T>C | CA342134940 | HJV | c.974A>G (p.Gln325Arg) c.296A>G (p.Gln99Arg) c.635A>G (p.Gln212Arg) | |
1 | g.146018384T>G | CA342134944 | HJV | c.974A>C (p.Gln325Pro) c.296A>C (p.Gln99Pro) c.635A>C (p.Gln212Pro) | |
1 | g.146018385G>A | CA342134946 | HJV | c.973C>T (p.Gln325Ter) c.295C>T (p.Gln99Ter) c.634C>T (p.Gln212Ter) | |
1 | g.146018385G>C | CA342134947 | HJV | c.973C>G (p.Gln325Glu) c.295C>G (p.Gln99Glu) c.634C>G (p.Gln212Glu) | |
1 | g.146018385G>T | CA342134948 | HJV | c.973C>A (p.Gln325Lys) c.295C>A (p.Gln99Lys) c.634C>A (p.Gln212Lys) | |
1 | g.146018386A>C | CA342134949 | HJV | c.972T>G (p.Ser324Arg) c.294T>G (p.Ser98Arg) c.633T>G (p.Ser211Arg) | |
1 | g.146018386A>G | CA420603359 | HJV | c.972T>C (p.Ser324=) c.294T>C (p.Ser98=) c.633T>C (p.Ser211=) | |
1 | g.146018386A>T | CA342134951 | HJV | c.972T>A (p.Ser324Arg) c.294T>A (p.Ser98Arg) c.633T>A (p.Ser211Arg) | |
1 | g.146018387C>A | CA342134955 | HJV | c.971G>T (p.Ser324Ile) c.293G>T (p.Ser98Ile) c.632G>T (p.Ser211Ile) | |
1 | g.146018387C>G | CA342134958 | HJV | c.971G>C (p.Ser324Thr) c.293G>C (p.Ser98Thr) c.632G>C (p.Ser211Thr) | |
1 | g.146018387C>T | CA342134960 | HJV | c.971G>A (p.Ser324Asn) c.293G>A (p.Ser98Asn) c.632G>A (p.Ser211Asn) | gnomAD v4 |
1 | g.146018388T>A | CA342134970 | HJV | c.970A>T (p.Ser324Cys) c.292A>T (p.Ser98Cys) c.631A>T (p.Ser211Cys) | |
1 | g.146018388T>C | CA342134967 | HJV | c.970A>G (p.Ser324Gly) c.292A>G (p.Ser98Gly) c.631A>G (p.Ser211Gly) | |
1 | g.146018388T>G | CA342134965 | HJV | c.970A>C (p.Ser324Arg) c.292A>C (p.Ser98Arg) c.631A>C (p.Ser211Arg) | |
1 | g.146018389T>A | CA420603365 | HJV | c.969A>T (p.Pro323=) c.291A>T (p.Pro97=) c.630A>T (p.Pro210=) | |
1 | g.146018389T>C | CA420603364 | HJV | c.969A>G (p.Pro323=) c.291A>G (p.Pro97=) c.630A>G (p.Pro210=) | gnomAD v4 |
1 | g.146018389T>G | CA420603363 | HJV | c.969A>C (p.Pro323=) c.291A>C (p.Pro97=) c.630A>C (p.Pro210=) | |
1 | g.146018390G>A | CA342134973 | HJV | c.968C>T (p.Pro323Leu) c.290C>T (p.Pro97Leu) c.629C>T (p.Pro210Leu) | gnomAD v4 |
1 | g.146018390G>C | CA342134979 | HJV | c.968C>G (p.Pro323Arg) c.290C>G (p.Pro97Arg) c.629C>G (p.Pro210Arg) | gnomAD v4 |
1 | g.146018390G= | CA1198820947 | HJV | c.968C= (p.Pro323=) c.290C= (p.Pro97=) c.629C= (p.Pro210=) | |
1 | g.146018390G>T | CA342134987 | HJV | c.968C>A (p.Pro323Gln) c.290C>A (p.Pro97Gln) c.629C>A (p.Pro210Gln) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.146018391G>A | CA342134990 | HJV | c.967C>T (p.Pro323Ser) c.289C>T (p.Pro97Ser) c.628C>T (p.Pro210Ser) | |
1 | g.146018391G>C | CA342135000 | HJV | c.967C>G (p.Pro323Ala) c.289C>G (p.Pro97Ala) c.628C>G (p.Pro210Ala) | |
1 | g.146018391G>T | CA342135005 | HJV | c.967C>A (p.Pro323Thr) c.289C>A (p.Pro97Thr) c.628C>A (p.Pro210Thr) | |
1 | g.146018392A>C | CA420603369 | HJV | c.966T>G (p.Pro322=) c.288T>G (p.Pro96=) c.627T>G (p.Pro209=) | |
1 | g.146018392A>G | CA420603368 | HJV | c.966T>C (p.Pro322=) c.288T>C (p.Pro96=) c.627T>C (p.Pro209=) | |
1 | g.146018392A>T | CA420603367 | HJV | c.966T>A (p.Pro322=) c.288T>A (p.Pro96=) c.627T>A (p.Pro209=) | |
1 | g.146018393G>A | CA342135014 | HJV | c.965C>T (p.Pro322Leu) c.287C>T (p.Pro96Leu) c.626C>T (p.Pro209Leu) | COSMIC |
1 | g.146018393G>C | CA342135018 | HJV | c.965C>G (p.Pro322Arg) c.287C>G (p.Pro96Arg) c.626C>G (p.Pro209Arg) | |
1 | g.146018393G>T | CA342135020 | HJV | c.965C>A (p.Pro322His) c.287C>A (p.Pro96His) c.626C>A (p.Pro209His) | |
1 | g.146018395del | CA2574047893 | HJV | c.965del (p.Pro322LeufsTer17) c.287del (p.Pro96LeufsTer17) c.626del (p.Pro209LeufsTer17) | |
1 | g.146018394G>A | CA342135025 | HJV | c.964C>T (p.Pro322Ser) c.286C>T (p.Pro96Ser) c.625C>T (p.Pro209Ser) | |
1 | g.146018394G>C | CA342135031 | HJV | c.964C>G (p.Pro322Ala) c.286C>G (p.Pro96Ala) c.625C>G (p.Pro209Ala) | |
1 | g.146018394G= | CA1198820948 | HJV | c.964C= (p.Pro322=) c.286C= (p.Pro96=) c.625C= (p.Pro209=) | |
1 | g.146018394G>T | CA342135033 | HJV | c.964C>A (p.Pro322Thr) c.286C>A (p.Pro96Thr) c.625C>A (p.Pro209Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.146018395G>A | CA420603374 | HJV | c.963C>T (p.Cys321=) c.285C>T (p.Cys95=) c.624C>T (p.Cys208=) | |
1 | g.146018395G>C | CA1053929 | HJV | c.963C>G (p.Cys321Trp) c.285C>G (p.Cys95Trp) c.624C>G (p.Cys208Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018395G= | CA1141581027 | HJV | c.963C= (p.Cys321=) c.285C= (p.Cys95=) c.624C= (p.Cys208=) | |
1 | g.146018395G>T | CA252257 | HJV | c.963C>A (p.Cys321Ter) c.285C>A (p.Cys95Ter) c.624C>A (p.Cys208Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018395_146018396delinsTT | CA2586967192 | HJV | c.962_963delinsAA (p.Cys321Ter) c.284_285delinsAA (p.Cys95Ter) c.623_624delinsAA (p.Cys208Ter) | ClinVar |
1 | g.146018396C>A | CA29823605 | HJV | c.962G>T (p.Cys321Phe) c.284G>T (p.Cys95Phe) c.623G>T (p.Cys208Phe) | |
1 | g.146018396C= | CA1198820949 | HJV | c.962G= (p.Cys321=) c.284G= (p.Cys95=) c.623G= (p.Cys208=) | |
1 | g.146018396C>G | CA29823613 | HJV | c.962G>C (p.Cys321Ser) c.284G>C (p.Cys95Ser) c.623G>C (p.Cys208Ser) | |
1 | g.146018396C>T | CA1053928 | HJV | c.962G>A (p.Cys321Tyr) c.284G>A (p.Cys95Tyr) c.623G>A (p.Cys208Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018397A>C | CA342135083 | HJV | c.961T>G (p.Cys321Gly) c.283T>G (p.Cys95Gly) c.622T>G (p.Cys208Gly) | |
1 | g.146018397A>G | CA342135087 | HJV | c.961T>C (p.Cys321Arg) c.283T>C (p.Cys95Arg) c.622T>C (p.Cys208Arg) | |
1 | g.146018397A>T | CA342135090 | HJV | c.961T>A (p.Cys321Ser) c.283T>A (p.Cys95Ser) c.622T>A (p.Cys208Ser) | |
1 | g.146018397_146018398delinsAC | CA1198820950 | HJV | c.960_961delinsGT (p.Gly320=) c.282_283delinsGT (p.Gly94=) c.621_622delinsGT (p.Gly207=) | |
1 | g.146018398C>A | CA1053927 | HJV | c.960G>T (p.Gly320=) c.282G>T (p.Gly94=) c.621G>T (p.Gly207=) | ClinVar dbSNP ExAC gnomAD v4 |
1 | g.146018398C= | CA1198820951 | HJV | c.960G= (p.Gly320=) c.282G= (p.Gly94=) c.621G= (p.Gly207=) | |
1 | g.146018398C>G | CA29823624 | HJV | c.960G>C (p.Gly320=) c.282G>C (p.Gly94=) c.621G>C (p.Gly207=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018398C>T | CA29823629 | HJV | c.960G>A (p.Gly320=) c.282G>A (p.Gly94=) c.621G>A (p.Gly207=) | ClinVar dbSNP gnomAD v4 |
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.146018399_146018400insA | CA2745933938 | HJV | c.958_959insT (p.Gly320ValfsTer22) c.280_281insT (p.Gly94ValfsTer22) c.619_620insT (p.Gly207ValfsTer22) | |
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.146018402_146018403insACCCCAAACACACC | CA2745933939 | HJV | c.957_958insTGTGTTTGGGGTGG (p.Gly320CysfsTer24) c.279_280insTGTGTTTGGGGTGG (p.Gly94CysfsTer24) c.618_619insTGTGTTTGGGGTGG (p.Gly207CysfsTer24) | |
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) | ClinVar 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) | |
1 | g.146018412G>A | CA342135252 | HJV | c.946C>T (p.Leu316Phe) c.268C>T (p.Leu90Phe) c.607C>T (p.Leu203Phe) | |
1 | g.146018412G>C | CA342135255 | HJV | c.946C>G (p.Leu316Val) c.268C>G (p.Leu90Val) c.607C>G (p.Leu203Val) | |
1 | g.146018412G>T | CA342135257 | HJV | c.946C>A (p.Leu316Ile) c.268C>A (p.Leu90Ile) c.607C>A (p.Leu203Ile) | |
1 | g.146018413C>A | CA342135258 | HJV | c.945G>T (p.Gln315His) c.267G>T (p.Gln89His) c.606G>T (p.Gln202His) | |
1 | g.146018413C= | CA1198820957 | HJV | c.945G= (p.Gln315=) c.267G= (p.Gln89=) c.606G= (p.Gln202=) | |
1 | g.146018413C>G | CA342135259 | HJV | c.945G>C (p.Gln315His) c.267G>C (p.Gln89His) c.606G>C (p.Gln202His) | |
1 | g.146018413C>T | CA420603404 | HJV | c.945G>A (p.Gln315=) c.267G>A (p.Gln89=) c.606G>A (p.Gln202=) | dbSNP |
1 | g.146018414T>A | CA342135260 | HJV | c.944A>T (p.Gln315Leu) c.266A>T (p.Gln89Leu) c.605A>T (p.Gln202Leu) | |
1 | g.146018414T>C | CA342135261 | HJV | c.944A>G (p.Gln315Arg) c.266A>G (p.Gln89Arg) c.605A>G (p.Gln202Arg) | |
1 | g.146018414T>G | CA342135263 | HJV | c.944A>C (p.Gln315Pro) c.266A>C (p.Gln89Pro) c.605A>C (p.Gln202Pro) | |
1 | g.146018415G>A | CA342135296 | HJV | c.943C>T (p.Gln315Ter) c.265C>T (p.Gln89Ter) c.604C>T (p.Gln202Ter) | |
1 | g.146018415G>C | CA342135300 | HJV | c.943C>G (p.Gln315Glu) c.265C>G (p.Gln89Glu) c.604C>G (p.Gln202Glu) | |
1 | g.146018415G>T | CA342135315 | HJV | c.943C>A (p.Gln315Lys) c.265C>A (p.Gln89Lys) c.604C>A (p.Gln202Lys) | |
1 | g.146018416C>A | CA420603412 | HJV | c.942G>T (p.Leu314=) c.264G>T (p.Leu88=) c.603G>T (p.Leu201=) | |
1 | g.146018416C>G | CA420603411 | HJV | c.942G>C (p.Leu314=) c.264G>C (p.Leu88=) c.603G>C (p.Leu201=) | |
1 | g.146018416C>T | CA420603410 | HJV | c.942G>A (p.Leu314=) c.264G>A (p.Leu88=) c.603G>A (p.Leu201=) | ClinVar dbSNP |
1 | g.146018417A>C | CA342135341 | HJV | c.941T>G (p.Leu314Arg) c.263T>G (p.Leu88Arg) c.602T>G (p.Leu201Arg) | |
1 | g.146018417A>G | CA342135328 | HJV | c.941T>C (p.Leu314Pro) c.263T>C (p.Leu88Pro) c.602T>C (p.Leu201Pro) | |
1 | g.146018417A>T | CA342135338 | HJV | c.941T>A (p.Leu314Gln) c.263T>A (p.Leu88Gln) c.602T>A (p.Leu201Gln) | |
1 | g.146018418G>A | CA420603416 | HJV | c.940C>T (p.Leu314=) c.262C>T (p.Leu88=) c.601C>T (p.Leu201=) | ClinVar dbSNP |
1 | g.146018418G>C | CA342135347 | HJV | c.940C>G (p.Leu314Val) c.262C>G (p.Leu88Val) c.601C>G (p.Leu201Val) | |
1 | g.146018418G= | CA1198820958 | HJV | c.940C= (p.Leu314=) c.262C= (p.Leu88=) c.601C= (p.Leu201=) | |
1 | g.146018418G>T | CA342135357 | HJV | c.940C>A (p.Leu314Met) c.262C>A (p.Leu88Met) c.601C>A (p.Leu201Met) | |
1 | g.146018419G>A | CA420603421 | HJV | c.939C>T (p.Asp313=) c.261C>T (p.Asp87=) c.600C>T (p.Asp200=) | |
1 | g.146018419G>C | CA342135371 | HJV | c.939C>G (p.Asp313Glu) c.261C>G (p.Asp87Glu) c.600C>G (p.Asp200Glu) | |
1 | g.146018419G>T | CA342135372 | HJV | c.939C>A (p.Asp313Glu) c.261C>A (p.Asp87Glu) c.600C>A (p.Asp200Glu) | gnomAD v4 |
1 | g.146018420T>A | CA342135373 | HJV | c.938A>T (p.Asp313Val) c.260A>T (p.Asp87Val) c.599A>T (p.Asp200Val) | |
1 | g.146018420T>C | CA342135374 | HJV | c.938A>G (p.Asp313Gly) c.260A>G (p.Asp87Gly) c.599A>G (p.Asp200Gly) | |
1 | g.146018420T>G | CA342135375 | HJV | c.938A>C (p.Asp313Ala) c.260A>C (p.Asp87Ala) c.599A>C (p.Asp200Ala) | dbSNP |
1 | g.146018420T= | CA1198820959 | HJV | c.938A= (p.Asp313=) c.260A= (p.Asp87=) c.599A= (p.Asp200=) | |
1 | g.146018421C>A | CA29823658 | HJV | c.937G>T (p.Asp313Tyr) c.259G>T (p.Asp87Tyr) c.598G>T (p.Asp200Tyr) | |
1 | g.146018421C= | CA1198820960 | HJV | c.937G= (p.Asp313=) c.259G= (p.Asp87=) c.598G= (p.Asp200=) | |
1 | g.146018421C>G | CA29823662 | HJV | c.937G>C (p.Asp313His) c.259G>C (p.Asp87His) c.598G>C (p.Asp200His) | |
1 | g.146018421C>T | CA1053923 | HJV | c.937G>A (p.Asp313Asn) c.259G>A (p.Asp87Asn) c.598G>A (p.Asp200Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.146018422C>A | CA342135390 | HJV | c.936G>T (p.Gln312His) c.258G>T (p.Gln86His) c.597G>T (p.Gln199His) | |
1 | g.146018422C= | CA1198820961 | HJV | c.936G= (p.Gln312=) c.258G= (p.Gln86=) c.597G= (p.Gln199=) | |
1 | g.146018422C>G | CA342135388 | HJV | c.936G>C (p.Gln312His) c.258G>C (p.Gln86His) c.597G>C (p.Gln199His) | |
1 | g.146018422C>T | CA420603424 | HJV | c.936G>A (p.Gln312=) c.258G>A (p.Gln86=) c.597G>A (p.Gln199=) | dbSNP |
1 | g.146018423T>A | CA342135392 | HJV | c.935A>T (p.Gln312Leu) c.257A>T (p.Gln86Leu) c.596A>T (p.Gln199Leu) | |
1 | g.146018423T>C | CA342135395 | HJV | c.935A>G (p.Gln312Arg) c.257A>G (p.Gln86Arg) c.596A>G (p.Gln199Arg) | |
1 | g.146018423T>G | CA342135400 | HJV | c.935A>C (p.Gln312Pro) c.257A>C (p.Gln86Pro) c.596A>C (p.Gln199Pro) | |
1 | g.146018424G>A | CA342135407 | HJV | c.934C>T (p.Gln312Ter) c.256C>T (p.Gln86Ter) c.595C>T (p.Gln199Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.146018424G>C | CA342135411 | HJV | c.934C>G (p.Gln312Glu) c.256C>G (p.Gln86Glu) c.595C>G (p.Gln199Glu) | |
1 | g.146018424G= | CA1198820962 | HJV | c.934C= (p.Gln312=) c.256C= (p.Gln86=) c.595C= (p.Gln199=) | |
1 | g.146018424G>T | CA342135421 | HJV | c.934C>A (p.Gln312Lys) c.256C>A (p.Gln86Lys) c.595C>A (p.Gln199Lys) | |
1 | g.146018425T>A | CA342135432 | HJV | c.933A>T (p.Glu311Asp) c.255A>T (p.Glu85Asp) c.594A>T (p.Glu198Asp) | |
1 | g.146018425T>C | CA420603428 | HJV | c.933A>G (p.Glu311=) c.255A>G (p.Glu85=) c.594A>G (p.Glu198=) | gnomAD v4 |
1 | g.146018425T>G | CA342135423 | HJV | c.933A>C (p.Glu311Asp) c.255A>C (p.Glu85Asp) c.594A>C (p.Glu198Asp) | |
1 | g.146018426T>A | CA342135436 | HJV | c.932A>T (p.Glu311Val) c.254A>T (p.Glu85Val) c.593A>T (p.Glu198Val) | |
1 | g.146018426T>C | CA342135438 | HJV | c.932A>G (p.Glu311Gly) c.254A>G (p.Glu85Gly) c.593A>G (p.Glu198Gly) | |
1 | g.146018426T>G | CA342135442 | HJV | c.932A>C (p.Glu311Ala) c.254A>C (p.Glu85Ala) c.593A>C (p.Glu198Ala) | |
1 | g.146018427C>A | CA342135443 | HJV | c.931G>T (p.Glu311Ter) c.253G>T (p.Glu85Ter) c.592G>T (p.Glu198Ter) | gnomAD v4 |
1 | g.146018427C>G | CA342135444 | HJV | c.931G>C (p.Glu311Gln) c.253G>C (p.Glu85Gln) c.592G>C (p.Glu198Gln) | |
1 | g.146018427C>T | CA342135445 | HJV | c.931G>A (p.Glu311Lys) c.253G>A (p.Glu85Lys) c.592G>A (p.Glu198Lys) | |
1 | g.146018428A>C | CA420603434 | HJV | c.930T>G (p.Ala310=) c.252T>G (p.Ala84=) c.591T>G (p.Ala197=) | |
1 | g.146018428A>G | CA420603435 | HJV | c.930T>C (p.Ala310=) c.252T>C (p.Ala84=) c.591T>C (p.Ala197=) | |
1 | g.146018428A>T | CA420603433 | HJV | c.930T>A (p.Ala310=) c.252T>A (p.Ala84=) c.591T>A (p.Ala197=) | |
1 | g.146018429G>A | CA342135447 | HJV | c.929C>T (p.Ala310Val) c.251C>T (p.Ala84Val) c.590C>T (p.Ala197Val) | |
1 | g.146018429G>C | CA1053922 | HJV | c.929C>G (p.Ala310Gly) c.251C>G (p.Ala84Gly) c.590C>G (p.Ala197Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018429G= | CA1140148041 | HJV | c.929C= (p.Ala310=) c.251C= (p.Ala84=) c.590C= (p.Ala197=) | |
1 | g.146018429G>T | CA342135448 | HJV | c.929C>A (p.Ala310Asp) c.251C>A (p.Ala84Asp) c.590C>A (p.Ala197Asp) | gnomAD v4 |
1 | g.146018430C>A | CA342135449 | HJV | c.928G>T (p.Ala310Ser) c.250G>T (p.Ala84Ser) c.589G>T (p.Ala197Ser) | |
1 | g.146018430C>G | CA342135450 | HJV | c.928G>C (p.Ala310Pro) c.250G>C (p.Ala84Pro) c.589G>C (p.Ala197Pro) | |
1 | g.146018430C>T | CA342135453 | HJV | c.928G>A (p.Ala310Thr) c.250G>A (p.Ala84Thr) c.589G>A (p.Ala197Thr) | gnomAD v4 |
1 | g.146018431T>A | CA420603441 | HJV | c.927A>T (p.Ser309=) c.249A>T (p.Ser83=) c.588A>T (p.Ser196=) | |
1 | g.146018431T>C | CA420603440 | HJV | c.927A>G (p.Ser309=) c.249A>G (p.Ser83=) c.588A>G (p.Ser196=) | dbSNP |
1 | g.146018431T>G | CA420603439 | HJV | c.927A>C (p.Ser309=) c.249A>C (p.Ser83=) c.588A>C (p.Ser196=) | dbSNP |
1 | g.146018432G>A | CA342135471 | HJV | c.926C>T (p.Ser309Leu) c.248C>T (p.Ser83Leu) c.587C>T (p.Ser196Leu) | |
1 | g.146018432G>C | CA342135472 | HJV | c.926C>G (p.Ser309Ter) c.248C>G (p.Ser83Ter) c.587C>G (p.Ser196Ter) | gnomAD v4 |
1 | g.146018432G>T | CA342135479 | HJV | c.926C>A (p.Ser309Ter) c.248C>A (p.Ser83Ter) c.587C>A (p.Ser196Ter) | COSMIC |
1 | g.146018433A= | CA1198820963 | HJV | c.925T= (p.Ser309=) c.247T= (p.Ser83=) c.586T= (p.Ser196=) | |
1 | g.146018433A>C | CA342135485 | HJV | c.925T>G (p.Ser309Ala) c.247T>G (p.Ser83Ala) c.586T>G (p.Ser196Ala) | gnomAD v4 |
1 | g.146018433A>G | CA342135494 | HJV | c.925T>C (p.Ser309Pro) c.247T>C (p.Ser83Pro) c.586T>C (p.Ser196Pro) | |
1 | g.146018433A>T | CA342135499 | HJV | c.925T>A (p.Ser309Thr) c.247T>A (p.Ser83Thr) c.586T>A (p.Ser196Thr) | dbSNP |
1 | g.146018434G>A | CA420603444 | HJV | c.924C>T (p.Phe308=) c.246C>T (p.Phe82=) c.585C>T (p.Phe195=) | |
1 | g.146018434G>C | CA342135500 | HJV | c.924C>G (p.Phe308Leu) c.246C>G (p.Phe82Leu) c.585C>G (p.Phe195Leu) | |
1 | g.146018434G>T | CA342135501 | HJV | c.924C>A (p.Phe308Leu) c.246C>A (p.Phe82Leu) c.585C>A (p.Phe195Leu) | |
1 | g.146018435A>C | CA342135509 | HJV | c.923T>G (p.Phe308Cys) c.245T>G (p.Phe82Cys) c.584T>G (p.Phe195Cys) | |
1 | g.146018435A>G | CA342135513 | HJV | c.923T>C (p.Phe308Ser) c.245T>C (p.Phe82Ser) c.584T>C (p.Phe195Ser) | |
1 | g.146018435A>T | CA342135503 | HJV | c.923T>A (p.Phe308Tyr) c.245T>A (p.Phe82Tyr) c.584T>A (p.Phe195Tyr) | |
1 | g.146018436A>C | CA342135518 | HJV | c.922T>G (p.Phe308Val) c.244T>G (p.Phe82Val) c.583T>G (p.Phe195Val) | |
1 | g.146018436A>G | CA342135528 | HJV | c.922T>C (p.Phe308Leu) c.244T>C (p.Phe82Leu) c.583T>C (p.Phe195Leu) | |
1 | g.146018436A>T | CA342135532 | HJV | c.922T>A (p.Phe308Ile) c.244T>A (p.Phe82Ile) c.583T>A (p.Phe195Ile) | |
1 | g.146018436_146018442delinsAGGCCAT | CA1198820964 | HJV | c.916_922delinsATGGCCT (p.Met306=) c.238_244delinsATGGCCT (p.Met80=) c.577_583delinsATGGCCT (p.Met193=) | |
1 | g.146018437G>A | CA29823676 | HJV | c.921C>T (p.Ala307=) c.243C>T (p.Ala81=) c.582C>T (p.Ala194=) | dbSNP |
1 | g.146018437G>C | CA420603450 | HJV | c.921C>G (p.Ala307=) c.243C>G (p.Ala81=) c.582C>G (p.Ala194=) | |
1 | g.146018437G= | CA1198820965 | HJV | c.921C= (p.Ala307=) c.243C= (p.Ala81=) c.582C= (p.Ala194=) | |
1 | g.146018437G>T | CA420603452 | HJV | c.921C>A (p.Ala307=) c.243C>A (p.Ala81=) c.582C>A (p.Ala194=) | gnomAD v4 |
1 | g.146018442_146018447del | CA888579244 | HJV | c.916_921del (p.Met306_Ala307del) c.238_243del (p.Met80_Ala81del) c.577_582del (p.Met193_Ala194del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.146018438G>A | CA342135545 | HJV | c.920C>T (p.Ala307Val) c.242C>T (p.Ala81Val) c.581C>T (p.Ala194Val) | |
1 | g.146018438G>C | CA342135546 | HJV | c.920C>G (p.Ala307Gly) c.242C>G (p.Ala81Gly) c.581C>G (p.Ala194Gly) | |
1 | g.146018438G>T | CA342135551 | HJV | c.920C>A (p.Ala307Asp) c.242C>A (p.Ala81Asp) c.581C>A (p.Ala194Asp) | |
1 | g.146018439C>A | CA342135555 | HJV | c.919G>T (p.Ala307Ser) c.241G>T (p.Ala81Ser) c.580G>T (p.Ala194Ser) | |
1 | g.146018439C>G | CA342135557 | HJV | c.919G>C (p.Ala307Pro) c.241G>C (p.Ala81Pro) c.580G>C (p.Ala194Pro) | |
1 | g.146018439C>T | CA342135561 | HJV | c.919G>A (p.Ala307Thr) c.241G>A (p.Ala81Thr) c.580G>A (p.Ala194Thr) | gnomAD v4 |
1 | g.146018440del | CA2573131054 | HJV | c.919del (p.Ala307ProfsTer?) c.241del (p.Ala81ProfsTer?) c.580del (p.Ala194ProfsTer?) | ClinVar dbSNP |
1 | g.146018440C>A | CA29823692 | HJV | c.918G>T (p.Met306Ile) c.240G>T (p.Met80Ile) c.579G>T (p.Met193Ile) | |
1 | g.146018440C= | CA1198820966 | HJV | c.918G= (p.Met306=) c.240G= (p.Met80=) c.579G= (p.Met193=) | |
1 | g.146018440C>G | CA29823700 | HJV | c.918G>C (p.Met306Ile) c.240G>C (p.Met80Ile) c.579G>C (p.Met193Ile) | |
1 | g.146018440C>T | CA1053921 | HJV | c.918G>A (p.Met306Ile) c.240G>A (p.Met80Ile) c.579G>A (p.Met193Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018441A>C | CA342135582 | HJV | c.917T>G (p.Met306Arg) c.239T>G (p.Met80Arg) c.578T>G (p.Met193Arg) | |
1 | g.146018441A>G | CA342135580 | HJV | c.917T>C (p.Met306Thr) c.239T>C (p.Met80Thr) c.578T>C (p.Met193Thr) | gnomAD v4 |
1 | g.146018441A>T | CA342135578 | HJV | c.917T>A (p.Met306Lys) c.239T>A (p.Met80Lys) c.578T>A (p.Met193Lys) | |
1 | g.146018442T>A | CA342135584 | HJV | c.916A>T (p.Met306Leu) c.238A>T (p.Met80Leu) c.577A>T (p.Met193Leu) | |
1 | g.146018442T>C | CA342135587 | HJV | c.916A>G (p.Met306Val) c.238A>G (p.Met80Val) c.577A>G (p.Met193Val) | |
1 | g.146018442T>G | CA342135590 | HJV | c.916A>C (p.Met306Leu) c.238A>C (p.Met80Leu) c.577A>C (p.Met193Leu) | |
1 | g.146018442T= | CA1198820967 | HJV | c.916A= (p.Met306=) c.238A= (p.Met80=) c.577A= (p.Met193=) | |
1 | g.146018443G>A | CA1053920 | HJV | c.915C>T (p.Ala305=) c.237C>T (p.Ala79=) c.576C>T (p.Ala192=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018443G>C | CA29823706 | HJV | c.915C>G (p.Ala305=) c.237C>G (p.Ala79=) c.576C>G (p.Ala192=) | |
1 | g.146018443G= | CA1143759530 | HJV | c.915C= (p.Ala305=) c.237C= (p.Ala79=) c.576C= (p.Ala192=) | |
1 | g.146018443G>T | CA29823722 | HJV | c.915C>A (p.Ala305=) c.237C>A (p.Ala79=) c.576C>A (p.Ala192=) | |
1 | g.146018443_146018448dup | CA526253969 | HJV | c.910_915dup (p.Ala305_Met306insValAla) c.232_237dup (p.Ala79_Met80insValAla) c.571_576dup (p.Ala192_Met193insValAla) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.146018444G>A | CA342135591 | HJV | c.914C>T (p.Ala305Val) c.236C>T (p.Ala79Val) c.575C>T (p.Ala192Val) | gnomAD v4 COSMIC |
1 | g.146018444G>C | CA342135603 | HJV | c.914C>G (p.Ala305Gly) c.236C>G (p.Ala79Gly) c.575C>G (p.Ala192Gly) | |
1 | g.146018444G>T | CA342135607 | HJV | c.914C>A (p.Ala305Asp) c.236C>A (p.Ala79Asp) c.575C>A (p.Ala192Asp) | |
1 | g.146018445C>A | CA342135611 | HJV | c.913G>T (p.Ala305Ser) c.235G>T (p.Ala79Ser) c.574G>T (p.Ala192Ser) | gnomAD v4 |
1 | g.146018445C= | CA1198820968 | HJV | c.913G= (p.Ala305=) c.235G= (p.Ala79=) c.574G= (p.Ala192=) | |
1 | g.146018445C>G | CA342135617 | HJV | c.913G>C (p.Ala305Pro) c.235G>C (p.Ala79Pro) c.574G>C (p.Ala192Pro) | |
1 | g.146018445C>T | CA342135627 | HJV | c.913G>A (p.Ala305Thr) c.235G>A (p.Ala79Thr) c.574G>A (p.Ala192Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018446C>A | CA420603467 | HJV | c.912G>T (p.Val304=) c.234G>T (p.Val78=) c.573G>T (p.Val191=) | gnomAD v4 |
1 | g.146018446C>G | CA420603465 | HJV | c.912G>C (p.Val304=) c.234G>C (p.Val78=) c.573G>C (p.Val191=) | |
1 | g.146018446C>T | CA420603464 | HJV | c.912G>A (p.Val304=) c.234G>A (p.Val78=) c.573G>A (p.Val191=) | |
1 | g.146018447A>C | CA342135636 | HJV | c.911T>G (p.Val304Gly) c.233T>G (p.Val78Gly) c.572T>G (p.Val191Gly) | |
1 | g.146018447A>G | CA342135654 | HJV | c.911T>C (p.Val304Ala) c.233T>C (p.Val78Ala) c.572T>C (p.Val191Ala) | |
1 | g.146018447A>T | CA342135655 | HJV | c.911T>A (p.Val304Glu) c.233T>A (p.Val78Glu) c.572T>A (p.Val191Glu) | |
1 | g.146018448C>A | CA342135657 | HJV | c.910G>T (p.Val304Leu) c.232G>T (p.Val78Leu) c.571G>T (p.Val191Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018448C= | CA1198820969 | HJV | c.910G= (p.Val304=) c.232G= (p.Val78=) c.571G= (p.Val191=) | |
1 | g.146018448C>G | CA342135662 | HJV | c.910G>C (p.Val304Leu) c.232G>C (p.Val78Leu) c.571G>C (p.Val191Leu) | |
1 | g.146018448C>T | CA342135656 | HJV | c.910G>A (p.Val304Met) c.232G>A (p.Val78Met) c.571G>A (p.Val191Met) | |
1 | g.146018449A>C | CA342135685 | HJV | c.909T>G (p.Asp303Glu) c.231T>G (p.Asp77Glu) c.570T>G (p.Asp190Glu) | |
1 | g.146018449A>G | CA420603470 | HJV | c.909T>C (p.Asp303=) c.231T>C (p.Asp77=) c.570T>C (p.Asp190=) | |
1 | g.146018449A>T | CA342135690 | HJV | c.909T>A (p.Asp303Glu) c.231T>A (p.Asp77Glu) c.570T>A (p.Asp190Glu) | |
1 | g.146018450T>A | CA342135701 | HJV | c.908A>T (p.Asp303Val) c.230A>T (p.Asp77Val) c.569A>T (p.Asp190Val) | |
1 | g.146018450T>C | CA342135720 | HJV | c.908A>G (p.Asp303Gly) c.230A>G (p.Asp77Gly) c.569A>G (p.Asp190Gly) | |
1 | g.146018450T>G | CA342135721 | HJV | c.908A>C (p.Asp303Ala) c.230A>C (p.Asp77Ala) c.569A>C (p.Asp190Ala) | |
1 | g.146018451C>A | CA342135729 | HJV | c.907G>T (p.Asp303Tyr) c.229G>T (p.Asp77Tyr) c.568G>T (p.Asp190Tyr) | gnomAD v4 |
1 | g.146018451C>G | CA342135723 | HJV | c.907G>C (p.Asp303His) c.229G>C (p.Asp77His) c.568G>C (p.Asp190His) | |
1 | g.146018451C>T | CA342135722 | HJV | c.907G>A (p.Asp303Asn) c.229G>A (p.Asp77Asn) c.568G>A (p.Asp190Asn) | |
1 | g.146018452C>A | CA1053919 | HJV | c.906G>T (p.Glu302Asp) c.228G>T (p.Glu76Asp) c.567G>T (p.Glu189Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018452C= | CA1141871862 | HJV | c.906G= (p.Glu302=) c.228G= (p.Glu76=) c.567G= (p.Glu189=) | |
1 | g.146018452C>G | CA29823743 | HJV | c.906G>C (p.Glu302Asp) c.228G>C (p.Glu76Asp) c.567G>C (p.Glu189Asp) | |
1 | g.146018452C>T | CA1053918 | HJV | c.906G>A (p.Glu302=) c.228G>A (p.Glu76=) c.567G>A (p.Glu189=) | ClinVar dbSNP ExAC |
1 | g.146018453T>A | CA342135740 | HJV | c.905A>T (p.Glu302Val) c.227A>T (p.Glu76Val) c.566A>T (p.Glu189Val) | |
1 | g.146018453T>C | CA342135745 | HJV | c.905A>G (p.Glu302Gly) c.227A>G (p.Glu76Gly) c.566A>G (p.Glu189Gly) | |
1 | g.146018453T>G | CA342135746 | HJV | c.905A>C (p.Glu302Ala) c.227A>C (p.Glu76Ala) c.566A>C (p.Glu189Ala) | |
1 | g.146018454C>A | CA342135747 | HJV | c.904G>T (p.Glu302Ter) c.226G>T (p.Glu76Ter) c.565G>T (p.Glu189Ter) | |
1 | g.146018454C= | CA1141933395 | HJV | c.904G= (p.Glu302=) c.226G= (p.Glu76=) c.565G= (p.Glu189=) | |
1 | g.146018454C>G | CA342135754 | HJV | c.904G>C (p.Glu302Gln) c.226G>C (p.Glu76Gln) c.565G>C (p.Glu189Gln) | |
1 | g.146018454C>T | CA1053917 | HJV | c.904G>A (p.Glu302Lys) c.226G>A (p.Glu76Lys) c.565G>A (p.Glu189Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018455T>A | CA420603479 | HJV | c.903A>T (p.Ala301=) c.225A>T (p.Ala75=) c.564A>T (p.Ala188=) | |
1 | g.146018455T>C | CA420603478 | HJV | c.903A>G (p.Ala301=) c.225A>G (p.Ala75=) c.564A>G (p.Ala188=) | |
1 | g.146018455T>G | CA420603477 | HJV | c.903A>C (p.Ala301=) c.225A>C (p.Ala75=) c.564A>C (p.Ala188=) | |
1 | g.146018456G>A | CA342135756 | HJV | c.902C>T (p.Ala301Val) c.224C>T (p.Ala75Val) c.563C>T (p.Ala188Val) | |
1 | g.146018456G>C | CA342135757 | HJV | c.902C>G (p.Ala301Gly) c.224C>G (p.Ala75Gly) c.563C>G (p.Ala188Gly) | |
1 | g.146018456G>T | CA342135758 | HJV | c.902C>A (p.Ala301Glu) c.224C>A (p.Ala75Glu) c.563C>A (p.Ala188Glu) | |
1 | g.146018457C>A | CA342135763 | HJV | c.901G>T (p.Ala301Ser) c.223G>T (p.Ala75Ser) c.562G>T (p.Ala188Ser) | gnomAD v4 |
1 | g.146018457C>G | CA342135769 | HJV | c.901G>C (p.Ala301Pro) c.223G>C (p.Ala75Pro) c.562G>C (p.Ala188Pro) | |
1 | g.146018457C>T | CA342135771 | HJV | c.901G>A (p.Ala301Thr) c.223G>A (p.Ala75Thr) c.562G>A (p.Ala188Thr) | |
1 | g.146018458T>A | CA29823757 | HJV | c.900A>T (p.Val300=) c.222A>T (p.Val74=) c.561A>T (p.Val187=) | |
1 | g.146018458T>C | CA1053916 | HJV | c.900A>G (p.Val300=) c.222A>G (p.Val74=) c.561A>G (p.Val187=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018458T>G | CA29823761 | HJV | c.900A>C (p.Val300=) c.222A>C (p.Val74=) c.561A>C (p.Val187=) | |
1 | g.146018458T= | CA1198820970 | HJV | c.900A= (p.Val300=) c.222A= (p.Val74=) c.561A= (p.Val187=) | |
1 | g.146018459A>C | CA342135791 | HJV | c.899T>G (p.Val300Gly) c.221T>G (p.Val74Gly) c.560T>G (p.Val187Gly) | |
1 | g.146018459A>G | CA342135793 | HJV | c.899T>C (p.Val300Ala) c.221T>C (p.Val74Ala) c.560T>C (p.Val187Ala) | |
1 | g.146018459A>T | CA342135795 | HJV | c.899T>A (p.Val300Glu) c.221T>A (p.Val74Glu) c.560T>A (p.Val187Glu) | |
1 | g.146018459_146018460delinsAC | CA1198820971 | HJV | c.898_899delinsGT (p.Val300=) c.220_221delinsGT (p.Val74=) c.559_560delinsGT (p.Val187=) | |
1 | g.146018460C>A | CA342135808 | HJV | c.898G>T (p.Val300Leu) c.220G>T (p.Val74Leu) c.559G>T (p.Val187Leu) | |
1 | g.146018460C>G | CA342135803 | HJV | c.898G>C (p.Val300Leu) c.220G>C (p.Val74Leu) c.559G>C (p.Val187Leu) | |
1 | g.146018460C>T | CA342135798 | HJV | c.898G>A (p.Val300Ile) c.220G>A (p.Val74Ile) c.559G>A (p.Val187Ile) | gnomAD v4 |
1 | g.146018461del | CA1198820972 | HJV | c.898del (p.Val300Ter) c.220del (p.Val74Ter) c.559del (p.Val187Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.146018461C>A | CA342135813 | HJV | c.897G>T (p.Lys299Asn) c.219G>T (p.Lys73Asn) c.558G>T (p.Lys186Asn) | |
1 | g.146018461C>G | CA342135823 | HJV | c.897G>C (p.Lys299Asn) c.219G>C (p.Lys73Asn) c.558G>C (p.Lys186Asn) | gnomAD v4 |
1 | g.146018461C>T | CA420603481 | HJV | c.897G>A (p.Lys299=) c.219G>A (p.Lys73=) c.558G>A (p.Lys186=) | gnomAD v4 |
1 | g.146018462T>A | CA342135829 | HJV | c.896A>T (p.Lys299Met) c.218A>T (p.Lys73Met) c.557A>T (p.Lys186Met) | |
1 | g.146018462T>C | CA342135844 | HJV | c.896A>G (p.Lys299Arg) c.218A>G (p.Lys73Arg) c.557A>G (p.Lys186Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.146018462T>G | CA342135840 | HJV | c.896A>C (p.Lys299Thr) c.218A>C (p.Lys73Thr) c.557A>C (p.Lys186Thr) | |
1 | g.146018462T= | CA1198820973 | HJV | c.896A= (p.Lys299=) c.218A= (p.Lys73=) c.557A= (p.Lys186=) | |
1 | g.146018463T>A | CA342135846 | HJV | c.895A>T (p.Lys299Ter) c.217A>T (p.Lys73Ter) c.556A>T (p.Lys186Ter) | |
1 | g.146018463T>C | CA342135850 | HJV | c.895A>G (p.Lys299Glu) c.217A>G (p.Lys73Glu) c.556A>G (p.Lys186Glu) | |
1 | g.146018463T>G | CA342135848 | HJV | c.895A>C (p.Lys299Gln) c.217A>C (p.Lys73Gln) c.556A>C (p.Lys186Gln) | |
1 | g.146018464G>A | CA420603483 | HJV | c.894C>T (p.Ile298=) c.216C>T (p.Ile72=) c.555C>T (p.Ile185=) | |
1 | g.146018464G>C | CA342135864 | HJV | c.894C>G (p.Ile298Met) c.216C>G (p.Ile72Met) c.555C>G (p.Ile185Met) | |
1 | g.146018464G>T | CA420603482 | HJV | c.894C>A (p.Ile298=) c.216C>A (p.Ile72=) c.555C>A (p.Ile185=) | |
1 | g.146018465A= | CA1198820974 | HJV | c.893T= (p.Ile298=) c.215T= (p.Ile72=) c.554T= (p.Ile185=) | |
1 | g.146018465A>C | CA342135897 | HJV | c.893T>G (p.Ile298Ser) c.215T>G (p.Ile72Ser) c.554T>G (p.Ile185Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.146018465A>G | CA342135871 | HJV | c.893T>C (p.Ile298Thr) c.215T>C (p.Ile72Thr) c.554T>C (p.Ile185Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.146018465A>T | CA342135905 | HJV | c.893T>A (p.Ile298Asn) c.215T>A (p.Ile72Asn) c.554T>A (p.Ile185Asn) | |
1 | g.146018466T>A | CA29823767 | HJV | c.892A>T (p.Ile298Phe) c.214A>T (p.Ile72Phe) c.553A>T (p.Ile185Phe) | |
1 | g.146018466T>C | CA29823768 | HJV | c.892A>G (p.Ile298Val) c.214A>G (p.Ile72Val) c.553A>G (p.Ile185Val) | |
1 | g.146018466T>G | CA1053915 | HJV | c.892A>C (p.Ile298Leu) c.214A>C (p.Ile72Leu) c.553A>C (p.Ile185Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018466T= | CA1198820975 | HJV | c.892A= (p.Ile298=) c.214A= (p.Ile72=) c.553A= (p.Ile185=) | |
1 | g.146018467G>A | CA420603489 | HJV | c.891C>T (p.Ser297=) c.213C>T (p.Ser71=) c.552C>T (p.Ser184=) | ClinVar dbSNP gnomAD v4 |
1 | g.146018467G>C | CA420603488 | HJV | c.891C>G (p.Ser297=) c.213C>G (p.Ser71=) c.552C>G (p.Ser184=) | |
1 | g.146018467G>T | CA420603490 | HJV | c.891C>A (p.Ser297=) c.213C>A (p.Ser71=) c.552C>A (p.Ser184=) | |
1 | g.146018472_146018477del | CA2508527509 | HJV | c.886_891del (p.Phe296_Ser297del) c.208_213del (p.Phe70_Ser71del) c.547_552del (p.Phe183_Ser184del) | |
1 | g.146018468G>A | CA342135933 | HJV | c.890C>T (p.Ser297Phe) c.212C>T (p.Ser71Phe) c.551C>T (p.Ser184Phe) | gnomAD v4 |
1 | g.146018468G>C | CA342135934 | HJV | c.890C>G (p.Ser297Cys) c.212C>G (p.Ser71Cys) c.551C>G (p.Ser184Cys) | |
1 | g.146018468G>T | CA342135936 | HJV | c.890C>A (p.Ser297Tyr) c.212C>A (p.Ser71Tyr) c.551C>A (p.Ser184Tyr) | |
1 | g.146018469A>C | CA342135939 | HJV | c.889T>G (p.Ser297Ala) c.211T>G (p.Ser71Ala) c.550T>G (p.Ser184Ala) | |
1 | g.146018469A>G | CA342135946 | HJV | c.889T>C (p.Ser297Pro) c.211T>C (p.Ser71Pro) c.550T>C (p.Ser184Pro) | gnomAD v4 |
1 | g.146018469A>T | CA342135949 | HJV | c.889T>A (p.Ser297Thr) c.211T>A (p.Ser71Thr) c.550T>A (p.Ser184Thr) | |
1 | g.146018470G>A | CA420603491 | HJV | c.888C>T (p.Phe296=) c.210C>T (p.Phe70=) c.549C>T (p.Phe183=) | |
1 | g.146018470G>C | CA342135957 | HJV | c.888C>G (p.Phe296Leu) c.210C>G (p.Phe70Leu) c.549C>G (p.Phe183Leu) | |
1 | g.146018470G>T | CA342135963 | HJV | c.888C>A (p.Phe296Leu) c.210C>A (p.Phe70Leu) c.549C>A (p.Phe183Leu) | |
1 | g.146018471A= | CA1198820976 | HJV | c.887T= (p.Phe296=) c.209T= (p.Phe70=) c.548T= (p.Phe183=) | |
1 | g.146018471A>C | CA342135968 | HJV | c.887T>G (p.Phe296Cys) c.209T>G (p.Phe70Cys) c.548T>G (p.Phe183Cys) | |
1 | g.146018471A>G | CA342135971 | HJV | c.887T>C (p.Phe296Ser) c.209T>C (p.Phe70Ser) c.548T>C (p.Phe183Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.146018471A>T | CA342135974 | HJV | c.887T>A (p.Phe296Tyr) c.209T>A (p.Phe70Tyr) c.548T>A (p.Phe183Tyr) | |
1 | g.146018472A= | CA1198820977 | HJV | c.886T= (p.Phe296=) c.208T= (p.Phe70=) c.547T= (p.Phe183=) | |
1 | g.146018472A>C | CA342135995 | HJV | c.886T>G (p.Phe296Val) c.208T>G (p.Phe70Val) c.547T>G (p.Phe183Val) | dbSNP |
1 | g.146018472A>G | CA342135987 | HJV | c.886T>C (p.Phe296Leu) c.208T>C (p.Phe70Leu) c.547T>C (p.Phe183Leu) | COSMIC |
1 | g.146018472A>T | CA342135990 | HJV | c.886T>A (p.Phe296Ile) c.208T>A (p.Phe70Ile) c.547T>A (p.Phe183Ile) | |
1 | g.146018473G>A | CA1053914 | HJV | c.885C>T (p.Ser295=) c.207C>T (p.Ser69=) c.546C>T (p.Ser182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018473G>C | CA29823769 | HJV | c.885C>G (p.Ser295=) c.207C>G (p.Ser69=) c.546C>G (p.Ser182=) | |
1 | g.146018473G= | CA1143435950 | HJV | c.885C= (p.Ser295=) c.207C= (p.Ser69=) c.546C= (p.Ser182=) | |
1 | g.146018473G>T | CA29823770 | HJV | c.885C>A (p.Ser295=) c.207C>A (p.Ser69=) c.546C>A (p.Ser182=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.146018474del | CA2573131055 | HJV | c.885del (p.Phe296SerfsTer5) c.207del (p.Phe70SerfsTer5) c.546del (p.Phe183SerfsTer5) | ClinVar dbSNP |
1 | g.146018474G>A | CA342136015 | HJV | c.884C>T (p.Ser295Phe) c.206C>T (p.Ser69Phe) c.545C>T (p.Ser182Phe) | dbSNP |
1 | g.146018474G>C | CA342136018 | HJV | c.884C>G (p.Ser295Cys) c.206C>G (p.Ser69Cys) c.545C>G (p.Ser182Cys) | |
1 | g.146018474G= | CA1198820978 | HJV | c.884C= (p.Ser295=) c.206C= (p.Ser69=) c.545C= (p.Ser182=) | |
1 | g.146018474G>T | CA342136027 | HJV | c.884C>A (p.Ser295Tyr) c.206C>A (p.Ser69Tyr) c.545C>A (p.Ser182Tyr) | |
1 | g.146018475A>C | CA342136030 | HJV | c.883T>G (p.Ser295Ala) c.205T>G (p.Ser69Ala) c.544T>G (p.Ser182Ala) | |
1 | g.146018475A>G | CA342136034 | HJV | c.883T>C (p.Ser295Pro) c.205T>C (p.Ser69Pro) c.544T>C (p.Ser182Pro) | |
1 | g.146018475A>T | CA342136043 | HJV | c.883T>A (p.Ser295Thr) c.205T>A (p.Ser69Thr) c.544T>A (p.Ser182Thr) |