Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122261951G>A | CA354151626 | CASR | c.916G>A (p.Ala306Thr) c.433G>A (p.Ala145Thr) c.328G>A (p.Ala110Thr) | ClinVar dbSNP gnomAD v4 |
3 | g.122261951G>C | CA354151627 | CASR | c.916G>C (p.Ala306Pro) c.433G>C (p.Ala145Pro) c.328G>C (p.Ala110Pro) | ClinVar gnomAD v4 |
3 | g.122261951G= | CA1397873225 | CASR | c.916G= (p.Ala306=) c.433G= (p.Ala145=) c.328G= (p.Ala110=) | |
3 | g.122261951G>T | CA354151628 | CASR | c.916G>T (p.Ala306Ser) c.433G>T (p.Ala145Ser) c.328G>T (p.Ala110Ser) | ClinVar dbSNP |
3 | g.122261952C>A | CA354151629 | CASR | c.917C>A (p.Ala306Asp) c.434C>A (p.Ala145Asp) c.329C>A (p.Ala110Asp) | |
3 | g.122261952C>G | CA354151630 | CASR | c.917C>G (p.Ala306Gly) c.434C>G (p.Ala145Gly) c.329C>G (p.Ala110Gly) | |
3 | g.122261952C>T | CA354151631 | CASR | c.917C>T (p.Ala306Val) c.434C>T (p.Ala145Val) c.329C>T (p.Ala110Val) | gnomAD v4 |
3 | g.122261953C>A | CA435424580 | CASR | c.918C>A (p.Ala306=) c.435C>A (p.Ala145=) c.330C>A (p.Ala110=) | |
3 | g.122261953C>G | CA435424581 | CASR | c.918C>G (p.Ala306=) c.435C>G (p.Ala145=) c.330C>G (p.Ala110=) | |
3 | g.122261953C>T | CA435424582 | CASR | c.918C>T (p.Ala306=) c.435C>T (p.Ala145=) c.330C>T (p.Ala110=) | |
3 | g.122261954A= | CA1397873227 | CASR | c.919A= (p.Met307=) c.436A= (p.Met146=) c.331A= (p.Met111=) | |
3 | g.122261954A>C | CA354151634 | CASR | c.919A>C (p.Met307Leu) c.436A>C (p.Met146Leu) c.331A>C (p.Met111Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261954A>G | CA354151633 | CASR | c.919A>G (p.Met307Val) c.436A>G (p.Met146Val) c.331A>G (p.Met111Val) | ClinVar gnomAD v4 |
3 | g.122261954A>T | CA354151632 | CASR | c.919A>T (p.Met307Leu) c.436A>T (p.Met146Leu) c.331A>T (p.Met111Leu) | |
3 | g.122261955T>A | CA354151635 | CASR | c.920T>A (p.Met307Lys) c.437T>A (p.Met146Lys) c.332T>A (p.Met111Lys) | |
3 | g.122261955T>C | CA216142 | CASR | c.920T>C (p.Met307Thr) c.437T>C (p.Met146Thr) c.332T>C (p.Met111Thr) | ClinVar dbSNP |
3 | g.122261955T>G | CA354151636 | CASR | c.920T>G (p.Met307Arg) c.437T>G (p.Met146Arg) c.332T>G (p.Met111Arg) | |
3 | g.122261955T= | CA1397873229 | CASR | c.920T= (p.Met307=) c.437T= (p.Met146=) c.332T= (p.Met111=) | |
3 | g.122261956G>A | CA2569561 | CASR | c.921G>A (p.Met307Ile) c.438G>A (p.Met146Ile) c.333G>A (p.Met111Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261956G>C | CA354151637 | CASR | c.921G>C (p.Met307Ile) c.438G>C (p.Met146Ile) c.333G>C (p.Met111Ile) | |
3 | g.122261956G= | CA1397873231 | CASR | c.921G= (p.Met307=) c.438G= (p.Met146=) c.333G= (p.Met111=) | |
3 | g.122261956G>T | CA354151638 | CASR | c.921G>T (p.Met307Ile) c.438G>T (p.Met146Ile) c.333G>T (p.Met111Ile) | |
3 | g.122261957C>A | CA354151639 | CASR | c.922C>A (p.Pro308Thr) c.439C>A (p.Pro147Thr) c.334C>A (p.Pro112Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261957C= | CA1397873233 | CASR | c.922C= (p.Pro308=) c.439C= (p.Pro147=) c.334C= (p.Pro112=) | |
3 | g.122261957C>G | CA354151640 | CASR | c.922C>G (p.Pro308Ala) c.439C>G (p.Pro147Ala) c.334C>G (p.Pro112Ala) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261957C>T | CA354151641 | CASR | c.922C>T (p.Pro308Ser) c.439C>T (p.Pro147Ser) c.334C>T (p.Pro112Ser) | |
3 | g.122261958C>A | CA354151642 | CASR | c.923C>A (p.Pro308His) c.440C>A (p.Pro147His) c.335C>A (p.Pro112His) | |
3 | g.122261958C= | CA1397873235 | CASR | c.923C= (p.Pro308=) c.440C= (p.Pro147=) c.335C= (p.Pro112=) | |
3 | g.122261958C>G | CA354151643 | CASR | c.923C>G (p.Pro308Arg) c.440C>G (p.Pro147Arg) c.335C>G (p.Pro112Arg) | |
3 | g.122261958C>T | CA2569562 | CASR | c.923C>T (p.Pro308Leu) c.440C>T (p.Pro147Leu) c.335C>T (p.Pro112Leu) | dbSNP ExAC gnomAD v2 |
3 | g.122261959_122261960dup | CA2499216410 | CASR | c.924_925dup (p.Gln309LeufsTer15) c.441_442dup (p.Gln148LeufsTer15) c.336_337dup (p.Gln113LeufsTer15) | ClinVar dbSNP |
3 | g.122261959T>A | CA435424604 | CASR | c.924T>A (p.Pro308=) c.441T>A (p.Pro147=) c.336T>A (p.Pro112=) | |
3 | g.122261959T>C | CA435424605 | CASR | c.924T>C (p.Pro308=) c.441T>C (p.Pro147=) c.336T>C (p.Pro112=) | |
3 | g.122261959T>G | CA435424602 | CASR | c.924T>G (p.Pro308=) c.441T>G (p.Pro147=) c.336T>G (p.Pro112=) | |
3 | g.122261960C>A | CA354151646 | CASR | c.925C>A (p.Gln309Lys) c.442C>A (p.Gln148Lys) c.337C>A (p.Gln113Lys) | |
3 | g.122261960C= | CA1397873236 | CASR | c.925C= (p.Gln309=) c.442C= (p.Gln148=) c.337C= (p.Gln113=) | |
3 | g.122261960C>G | CA354151645 | CASR | c.925C>G (p.Gln309Glu) c.442C>G (p.Gln148Glu) c.337C>G (p.Gln113Glu) | |
3 | g.122261960C>T | CA354151644 | CASR | c.925C>T (p.Gln309Ter) c.442C>T (p.Gln148Ter) c.337C>T (p.Gln113Ter) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261961A= | CA1397873238 | CASR | c.926A= (p.Gln309=) c.443A= (p.Gln148=) c.338A= (p.Gln113=) | |
3 | g.122261961A>C | CA354151649 | CASR | c.926A>C (p.Gln309Pro) c.443A>C (p.Gln148Pro) c.338A>C (p.Gln113Pro) | ClinVar dbSNP gnomAD v4 |
3 | g.122261961A>G | CA354151647 | CASR | c.926A>G (p.Gln309Arg) c.443A>G (p.Gln148Arg) c.338A>G (p.Gln113Arg) | |
3 | g.122261961A>T | CA354151648 | CASR | c.926A>T (p.Gln309Leu) c.443A>T (p.Gln148Leu) c.338A>T (p.Gln113Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.122261962G>A | CA435424608 | CASR | c.927G>A (p.Gln309=) c.444G>A (p.Gln148=) c.339G>A (p.Gln113=) | |
3 | g.122261962G>C | CA354151650 | CASR | c.927G>C (p.Gln309His) c.444G>C (p.Gln148His) c.339G>C (p.Gln113His) | |
3 | g.122261962G>T | CA354151651 | CASR | c.927G>T (p.Gln309His) c.444G>T (p.Gln148His) c.339G>T (p.Gln113His) | |
3 | g.122261963T>A | CA354151652 | CASR | c.928T>A (p.Tyr310Asn) c.445T>A (p.Tyr149Asn) c.340T>A (p.Tyr114Asn) | |
3 | g.122261963T>C | CA354151653 | CASR | c.928T>C (p.Tyr310His) c.445T>C (p.Tyr149His) c.340T>C (p.Tyr114His) | |
3 | g.122261963T>G | CA354151654 | CASR | c.928T>G (p.Tyr310Asp) c.445T>G (p.Tyr149Asp) c.340T>G (p.Tyr114Asp) | |
3 | g.122261964A= | CA1397873240 | CASR | c.929A= (p.Tyr310=) c.446A= (p.Tyr149=) c.341A= (p.Tyr114=) | |
3 | g.122261964A>C | CA354151655 | CASR | c.929A>C (p.Tyr310Ser) c.446A>C (p.Tyr149Ser) c.341A>C (p.Tyr114Ser) | |
3 | g.122261964A>G | CA354151656 | CASR | c.929A>G (p.Tyr310Cys) c.446A>G (p.Tyr149Cys) c.341A>G (p.Tyr114Cys) | ClinVar dbSNP |
3 | g.122261964A>T | CA82738659 | CASR | c.929A>T (p.Tyr310Phe) c.446A>T (p.Tyr149Phe) c.341A>T (p.Tyr114Phe) | dbSNP |
3 | g.122261965C>A | CA354151657 | CASR | c.930C>A (p.Tyr310Ter) c.447C>A (p.Tyr149Ter) c.342C>A (p.Tyr114Ter) | |
3 | g.122261965C= | CA1397873242 | CASR | c.930C= (p.Tyr310=) c.447C= (p.Tyr149=) c.342C= (p.Tyr114=) | |
3 | g.122261965C>G | CA354151658 | CASR | c.930C>G (p.Tyr310Ter) c.447C>G (p.Tyr149Ter) c.342C>G (p.Tyr114Ter) | |
3 | g.122261965C>T | CA2569563 | CASR | c.930C>T (p.Tyr310=) c.447C>T (p.Tyr149=) c.342C>T (p.Tyr114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261966T>A | CA354151661 | CASR | c.931T>A (p.Phe311Ile) c.448T>A (p.Phe150Ile) c.343T>A (p.Phe115Ile) | |
3 | g.122261966T>C | CA354151659 | CASR | c.931T>C (p.Phe311Leu) c.448T>C (p.Phe150Leu) c.343T>C (p.Phe115Leu) | |
3 | g.122261966T>G | CA354151660 | CASR | c.931T>G (p.Phe311Val) c.448T>G (p.Phe150Val) c.343T>G (p.Phe115Val) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122261967T>A | CA354151662 | CASR | c.932T>A (p.Phe311Tyr) c.449T>A (p.Phe150Tyr) c.344T>A (p.Phe115Tyr) | |
3 | g.122261967T>C | CA354151663 | CASR | c.932T>C (p.Phe311Ser) c.449T>C (p.Phe150Ser) c.344T>C (p.Phe115Ser) | gnomAD v4 |
3 | g.122261967T>G | CA354151664 | CASR | c.932T>G (p.Phe311Cys) c.449T>G (p.Phe150Cys) c.344T>G (p.Phe115Cys) | |
3 | g.122261968C>A | CA354151665 | CASR | c.933C>A (p.Phe311Leu) c.450C>A (p.Phe150Leu) c.345C>A (p.Phe115Leu) | ClinVar |
3 | g.122261968C>G | CA354151666 | CASR | c.933C>G (p.Phe311Leu) c.450C>G (p.Phe150Leu) c.345C>G (p.Phe115Leu) | |
3 | g.122261968C>T | CA435424629 | CASR | c.933C>T (p.Phe311=) c.450C>T (p.Phe150=) c.345C>T (p.Phe115=) | |
3 | g.122261969C>A | CA354151667 | CASR | c.934C>A (p.His312Asn) c.451C>A (p.His151Asn) c.346C>A (p.His116Asn) | |
3 | g.122261969C>G | CA354151668 | CASR | c.934C>G (p.His312Asp) c.451C>G (p.His151Asp) c.346C>G (p.His116Asp) | |
3 | g.122261969C>T | CA354151669 | CASR | c.934C>T (p.His312Tyr) c.451C>T (p.His151Tyr) c.346C>T (p.His116Tyr) | |
3 | g.122261970A>C | CA354151670 | CASR | c.935A>C (p.His312Pro) c.452A>C (p.His151Pro) c.347A>C (p.His116Pro) | |
3 | g.122261970A>G | CA354151671 | CASR | c.935A>G (p.His312Arg) c.452A>G (p.His151Arg) c.347A>G (p.His116Arg) | |
3 | g.122261970A>T | CA354151672 | CASR | c.935A>T (p.His312Leu) c.452A>T (p.His151Leu) c.347A>T (p.His116Leu) | |
3 | g.122261971C>A | CA354151673 | CASR | c.936C>A (p.His312Gln) c.453C>A (p.His151Gln) c.348C>A (p.His116Gln) | |
3 | g.122261971C= | CA1397873244 | CASR | c.936C= (p.His312=) c.453C= (p.His151=) c.348C= (p.His116=) | |
3 | g.122261971C>G | CA354151675 | CASR | c.936C>G (p.His312Gln) c.453C>G (p.His151Gln) c.348C>G (p.His116Gln) | ClinVar dbSNP gnomAD v4 |
3 | g.122261971C>T | CA435424634 | CASR | c.936C>T (p.His312=) c.453C>T (p.His151=) c.348C>T (p.His116=) | ClinVar dbSNP gnomAD v4 |
3 | g.122261972G>A | CA82738662 | CASR | c.937G>A (p.Val313Met) c.454G>A (p.Val152Met) c.349G>A (p.Val117Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261972G>C | CA354151679 | CASR | c.937G>C (p.Val313Leu) c.454G>C (p.Val152Leu) c.349G>C (p.Val117Leu) | ClinVar gnomAD v4 |
3 | g.122261972G= | CA1397873246 | CASR | c.937G= (p.Val313=) c.454G= (p.Val152=) c.349G= (p.Val117=) | |
3 | g.122261972G>T | CA354151677 | CASR | c.937G>T (p.Val313Leu) c.454G>T (p.Val152Leu) c.349G>T (p.Val117Leu) | |
3 | g.122261973T>A | CA354151680 | CASR | c.938T>A (p.Val313Glu) c.455T>A (p.Val152Glu) c.350T>A (p.Val117Glu) | ClinVar |
3 | g.122261973T>C | CA354151683 | CASR | c.938T>C (p.Val313Ala) c.455T>C (p.Val152Ala) c.350T>C (p.Val117Ala) | ClinVar |
3 | g.122261973T>G | CA354151681 | CASR | c.938T>G (p.Val313Gly) c.455T>G (p.Val152Gly) c.350T>G (p.Val117Gly) | |
3 | g.122261974G>A | CA2569564 | CASR | c.939G>A (p.Val313=) c.456G>A (p.Val152=) c.351G>A (p.Val117=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261974G>C | CA435424641 | CASR | c.939G>C (p.Val313=) c.456G>C (p.Val152=) c.351G>C (p.Val117=) | |
3 | g.122261974G= | CA1397873248 | CASR | c.939G= (p.Val313=) c.456G= (p.Val152=) c.351G= (p.Val117=) | |
3 | g.122261974G>T | CA435424642 | CASR | c.939G>T (p.Val313=) c.456G>T (p.Val152=) c.351G>T (p.Val117=) | |
3 | g.122261975G>A | CA354151686 | CASR | c.940G>A (p.Val314Ile) c.457G>A (p.Val153Ile) c.352G>A (p.Val118Ile) | |
3 | g.122261975G>C | CA354151688 | CASR | c.940G>C (p.Val314Leu) c.457G>C (p.Val153Leu) c.352G>C (p.Val118Leu) | |
3 | g.122261975G>T | CA354151690 | CASR | c.940G>T (p.Val314Phe) c.457G>T (p.Val153Phe) c.352G>T (p.Val118Phe) | |
3 | g.122261976T>A | CA354151691 | CASR | c.941T>A (p.Val314Asp) c.458T>A (p.Val153Asp) c.353T>A (p.Val118Asp) | |
3 | g.122261976T>C | CA354151693 | CASR | c.941T>C (p.Val314Ala) c.458T>C (p.Val153Ala) c.353T>C (p.Val118Ala) | |
3 | g.122261976T>G | CA354151695 | CASR | c.941T>G (p.Val314Gly) c.458T>G (p.Val153Gly) c.353T>G (p.Val118Gly) | |
3 | g.122261977T>A | CA435424646 | CASR | c.942T>A (p.Val314=) c.459T>A (p.Val153=) c.354T>A (p.Val118=) | |
3 | g.122261977T>C | CA435424647 | CASR | c.942T>C (p.Val314=) c.459T>C (p.Val153=) c.354T>C (p.Val118=) | ClinVar dbSNP |
3 | g.122261977T>G | CA435424648 | CASR | c.942T>G (p.Val314=) c.459T>G (p.Val153=) c.354T>G (p.Val118=) | ClinVar |
3 | g.122261978G>A | CA354151697 | CASR | c.943G>A (p.Gly315Ser) c.460G>A (p.Gly154Ser) c.355G>A (p.Gly119Ser) | |
3 | g.122261978G>C | CA354151699 | CASR | c.943G>C (p.Gly315Arg) c.460G>C (p.Gly154Arg) c.355G>C (p.Gly119Arg) | |
3 | g.122261978G>T | CA354151702 | CASR | c.943G>T (p.Gly315Cys) c.460G>T (p.Gly154Cys) c.355G>T (p.Gly119Cys) | |
3 | g.122261979G>A | CA354151705 | CASR | c.944G>A (p.Gly315Asp) c.461G>A (p.Gly154Asp) c.356G>A (p.Gly119Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261979G>C | CA354151706 | CASR | c.944G>C (p.Gly315Ala) c.461G>C (p.Gly154Ala) c.356G>C (p.Gly119Ala) | ClinVar |
3 | g.122261979G= | CA1397873251 | CASR | c.944G= (p.Gly315=) c.461G= (p.Gly154=) c.356G= (p.Gly119=) | |
3 | g.122261979G>T | CA354151708 | CASR | c.944G>T (p.Gly315Val) c.461G>T (p.Gly154Val) c.356G>T (p.Gly119Val) | |
3 | g.122261980C>A | CA435424649 | CASR | c.945C>A (p.Gly315=) c.462C>A (p.Gly154=) c.357C>A (p.Gly119=) | ClinVar dbSNP |
3 | g.122261980C= | CA1397873253 | CASR | c.945C= (p.Gly315=) c.462C= (p.Gly154=) c.357C= (p.Gly119=) | |
3 | g.122261980C>G | CA435424650 | CASR | c.945C>G (p.Gly315=) c.462C>G (p.Gly154=) c.357C>G (p.Gly119=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261980C>T | CA82738673 | CASR | c.945C>T (p.Gly315=) c.462C>T (p.Gly154=) c.357C>T (p.Gly119=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122261981G>A | CA2569565 | CASR | c.946G>A (p.Gly316Ser) c.463G>A (p.Gly155Ser) c.358G>A (p.Gly120Ser) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
3 | g.122261981G>C | CA354151715 | CASR | c.946G>C (p.Gly316Arg) c.463G>C (p.Gly155Arg) c.358G>C (p.Gly120Arg) | |
3 | g.122261981G= | CA1397873255 | CASR | c.946G= (p.Gly316=) c.463G= (p.Gly155=) c.358G= (p.Gly120=) | |
3 | g.122261981G>T | CA354151713 | CASR | c.946G>T (p.Gly316Cys) c.463G>T (p.Gly155Cys) c.358G>T (p.Gly120Cys) | |
3 | g.122261982G>A | CA354151718 | CASR | c.947G>A (p.Gly316Asp) c.464G>A (p.Gly155Asp) c.359G>A (p.Gly120Asp) | dbSNP |
3 | g.122261982G>C | CA354151721 | CASR | c.947G>C (p.Gly316Ala) c.464G>C (p.Gly155Ala) c.359G>C (p.Gly120Ala) | |
3 | g.122261982G= | CA1397873257 | CASR | c.947G= (p.Gly316=) c.464G= (p.Gly155=) c.359G= (p.Gly120=) | |
3 | g.122261982G>T | CA354151723 | CASR | c.947G>T (p.Gly316Val) c.464G>T (p.Gly155Val) c.359G>T (p.Gly120Val) | |
3 | g.122261983C>A | CA435424653 | CASR | c.948C>A (p.Gly316=) c.465C>A (p.Gly155=) c.360C>A (p.Gly120=) | |
3 | g.122261983C>G | CA435424654 | CASR | c.948C>G (p.Gly316=) c.465C>G (p.Gly155=) c.360C>G (p.Gly120=) | |
3 | g.122261983C>T | CA435424655 | CASR | c.948C>T (p.Gly316=) c.465C>T (p.Gly155=) c.360C>T (p.Gly120=) | ClinVar dbSNP gnomAD v4 |
3 | g.122261984A>C | CA354151727 | CASR | c.949A>C (p.Thr317Pro) c.466A>C (p.Thr156Pro) c.361A>C (p.Thr121Pro) | |
3 | g.122261984A>G | CA354151730 | CASR | c.949A>G (p.Thr317Ala) c.466A>G (p.Thr156Ala) c.361A>G (p.Thr121Ala) | ClinVar |
3 | g.122261984A>T | CA354151732 | CASR | c.949A>T (p.Thr317Ser) c.466A>T (p.Thr156Ser) c.361A>T (p.Thr121Ser) | |
3 | g.122261985C>A | CA354151736 | CASR | c.950C>A (p.Thr317Asn) c.467C>A (p.Thr156Asn) c.362C>A (p.Thr121Asn) | |
3 | g.122261985C>G | CA354151737 | CASR | c.950C>G (p.Thr317Ser) c.467C>G (p.Thr156Ser) c.362C>G (p.Thr121Ser) | |
3 | g.122261985C>T | CA354151740 | CASR | c.950C>T (p.Thr317Ile) c.467C>T (p.Thr156Ile) c.362C>T (p.Thr121Ile) | |
3 | g.122261986C>A | CA435424660 | CASR | c.951C>A (p.Thr317=) c.468C>A (p.Thr156=) c.363C>A (p.Thr121=) | |
3 | g.122261986C= | CA1397873259 | CASR | c.951C= (p.Thr317=) c.468C= (p.Thr156=) c.363C= (p.Thr121=) | |
3 | g.122261986C>G | CA435424661 | CASR | c.951C>G (p.Thr317=) c.468C>G (p.Thr156=) c.363C>G (p.Thr121=) | |
3 | g.122261986C>T | CA435424662 | CASR | c.951C>T (p.Thr317=) c.468C>T (p.Thr156=) c.363C>T (p.Thr121=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122261987A= | CA1397873260 | CASR | c.952A= (p.Ile318=) c.469A= (p.Ile157=) c.364A= (p.Ile122=) | |
3 | g.122261987A>C | CA354151747 | CASR | c.952A>C (p.Ile318Leu) c.469A>C (p.Ile157Leu) c.364A>C (p.Ile122Leu) | |
3 | g.122261987A>G | CA2569566 | CASR | c.952A>G (p.Ile318Val) c.469A>G (p.Ile157Val) c.364A>G (p.Ile122Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261987A>T | CA354151743 | CASR | c.952A>T (p.Ile318Phe) c.469A>T (p.Ile157Phe) c.364A>T (p.Ile122Phe) | |
3 | g.122261988T>A | CA354151749 | CASR | c.953T>A (p.Ile318Asn) c.470T>A (p.Ile157Asn) c.365T>A (p.Ile122Asn) | gnomAD v4 |
3 | g.122261988T>C | CA354151751 | CASR | c.953T>C (p.Ile318Thr) c.470T>C (p.Ile157Thr) c.365T>C (p.Ile122Thr) | ClinVar dbSNP |
3 | g.122261988T>G | CA354151756 | CASR | c.953T>G (p.Ile318Ser) c.470T>G (p.Ile157Ser) c.365T>G (p.Ile122Ser) | |
3 | g.122261989T>A | CA435424665 | CASR | c.954T>A (p.Ile318=) c.471T>A (p.Ile157=) c.366T>A (p.Ile122=) | |
3 | g.122261989T>C | CA435424666 | CASR | c.954T>C (p.Ile318=) c.471T>C (p.Ile157=) c.366T>C (p.Ile122=) | |
3 | g.122261989T>G | CA354151758 | CASR | c.954T>G (p.Ile318Met) c.471T>G (p.Ile157Met) c.366T>G (p.Ile122Met) | |
3 | g.122261990G>A | CA354151761 | CASR | c.955G>A (p.Gly319Arg) c.472G>A (p.Gly158Arg) c.367G>A (p.Gly123Arg) | ClinVar |
3 | g.122261990G>C | CA354151764 | CASR | c.955G>C (p.Gly319Arg) c.472G>C (p.Gly158Arg) c.367G>C (p.Gly123Arg) | |
3 | g.122261990G>T | CA354151767 | CASR | c.955G>T (p.Gly319Ter) c.472G>T (p.Gly158Ter) c.367G>T (p.Gly123Ter) | |
3 | g.122261991G>A | CA354151770 | CASR | c.956G>A (p.Gly319Glu) c.473G>A (p.Gly158Glu) c.368G>A (p.Gly123Glu) | ClinVar dbSNP |
3 | g.122261991G>C | CA354151772 | CASR | c.956G>C (p.Gly319Ala) c.473G>C (p.Gly158Ala) c.368G>C (p.Gly123Ala) | |
3 | g.122261991G>T | CA354151774 | CASR | c.956G>T (p.Gly319Val) c.473G>T (p.Gly158Val) c.368G>T (p.Gly123Val) | |
3 | g.122261992A>C | CA435424670 | CASR | c.957A>C (p.Gly319=) c.474A>C (p.Gly158=) c.369A>C (p.Gly123=) | ClinVar |
3 | g.122261992A>G | CA435424673 | CASR | c.957A>G (p.Gly319=) c.474A>G (p.Gly158=) c.369A>G (p.Gly123=) | |
3 | g.122261992A>T | CA435424671 | CASR | c.957A>T (p.Gly319=) c.474A>T (p.Gly158=) c.369A>T (p.Gly123=) | |
3 | g.122261993T>A | CA354151777 | CASR | c.958T>A (p.Phe320Ile) c.475T>A (p.Phe159Ile) c.370T>A (p.Phe124Ile) | ClinVar COSMIC |
3 | g.122261993T>C | CA354151784 | CASR | c.958T>C (p.Phe320Leu) c.475T>C (p.Phe159Leu) c.370T>C (p.Phe124Leu) | |
3 | g.122261993T>G | CA354151787 | CASR | c.958T>G (p.Phe320Val) c.475T>G (p.Phe159Val) c.370T>G (p.Phe124Val) | |
3 | g.122261994T>A | CA354151796 | CASR | c.959T>A (p.Phe320Tyr) c.476T>A (p.Phe159Tyr) c.371T>A (p.Phe124Tyr) | |
3 | g.122261994T>C | CA354151791 | CASR | c.959T>C (p.Phe320Ser) c.476T>C (p.Phe159Ser) c.371T>C (p.Phe124Ser) | |
3 | g.122261994T>G | CA354151793 | CASR | c.959T>G (p.Phe320Cys) c.476T>G (p.Phe159Cys) c.371T>G (p.Phe124Cys) | |
3 | g.122261995C>A | CA354151799 | CASR | c.960C>A (p.Phe320Leu) c.477C>A (p.Phe159Leu) c.372C>A (p.Phe124Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261995C= | CA1397873262 | CASR | c.960C= (p.Phe320=) c.477C= (p.Phe159=) c.372C= (p.Phe124=) | |
3 | g.122261995C>G | CA354151800 | CASR | c.960C>G (p.Phe320Leu) c.477C>G (p.Phe159Leu) c.372C>G (p.Phe124Leu) | dbSNP |
3 | g.122261995C>T | CA2569567 | CASR | c.960C>T (p.Phe320=) c.477C>T (p.Phe159=) c.372C>T (p.Phe124=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122261996_122261997del | CA2573136447 | CASR | c.961_962del (p.Ala321SerfsTer?) c.478_479del (p.Ala160SerfsTer?) c.373_374del (p.Ala125SerfsTer?) | ClinVar dbSNP |
3 | g.122261996G>A | CA354151806 | CASR | c.961G>A (p.Ala321Thr) c.478G>A (p.Ala160Thr) c.373G>A (p.Ala125Thr) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122261996G>C | CA354151808 | CASR | c.961G>C (p.Ala321Pro) c.478G>C (p.Ala160Pro) c.373G>C (p.Ala125Pro) | |
3 | g.122261996G= | CA1397873264 | CASR | c.961G= (p.Ala321=) c.478G= (p.Ala160=) c.373G= (p.Ala125=) | |
3 | g.122261996G>T | CA354151812 | CASR | c.961G>T (p.Ala321Ser) c.478G>T (p.Ala160Ser) c.373G>T (p.Ala125Ser) | ClinVar dbSNP |
3 | g.122261997C>A | CA354151816 | CASR | c.962C>A (p.Ala321Asp) c.479C>A (p.Ala160Asp) c.374C>A (p.Ala125Asp) | |
3 | g.122261997C>G | CA354151817 | CASR | c.962C>G (p.Ala321Gly) c.479C>G (p.Ala160Gly) c.374C>G (p.Ala125Gly) | |
3 | g.122261997C>T | CA354151820 | CASR | c.962C>T (p.Ala321Val) c.479C>T (p.Ala160Val) c.374C>T (p.Ala125Val) | gnomAD v4 |
3 | g.122261998T>A | CA435424679 | CASR | c.963T>A (p.Ala321=) c.480T>A (p.Ala160=) c.375T>A (p.Ala125=) | |
3 | g.122261998T>C | CA435424680 | CASR | c.963T>C (p.Ala321=) c.480T>C (p.Ala160=) c.375T>C (p.Ala125=) | |
3 | g.122261998T>G | CA435424681 | CASR | c.963T>G (p.Ala321=) c.480T>G (p.Ala160=) c.375T>G (p.Ala125=) | |
3 | g.122261999C>A | CA354151823 | CASR | c.964C>A (p.Leu322Met) c.481C>A (p.Leu161Met) c.376C>A (p.Leu126Met) | |
3 | g.122261999C>G | CA354151825 | CASR | c.964C>G (p.Leu322Val) c.481C>G (p.Leu161Val) c.376C>G (p.Leu126Val) | |
3 | g.122261999C>T | CA435424682 | CASR | c.964C>T (p.Leu322=) c.481C>T (p.Leu161=) c.376C>T (p.Leu126=) | ClinVar dbSNP |
3 | g.122262000T>A | CA354151828 | CASR | c.965T>A (p.Leu322Gln) c.482T>A (p.Leu161Gln) c.377T>A (p.Leu126Gln) | |
3 | g.122262000T>C | CA354151834 | CASR | c.965T>C (p.Leu322Pro) c.482T>C (p.Leu161Pro) c.377T>C (p.Leu126Pro) | |
3 | g.122262000T>G | CA354151831 | CASR | c.965T>G (p.Leu322Arg) c.482T>G (p.Leu161Arg) c.377T>G (p.Leu126Arg) | gnomAD v4 |
3 | g.122262001G>A | CA435424684 | CASR | c.966G>A (p.Leu322=) c.483G>A (p.Leu161=) c.378G>A (p.Leu126=) | |
3 | g.122262001G>C | CA435424685 | CASR | c.966G>C (p.Leu322=) c.483G>C (p.Leu161=) c.378G>C (p.Leu126=) | |
3 | g.122262001G>T | CA435424686 | CASR | c.966G>T (p.Leu322=) c.483G>T (p.Leu161=) c.378G>T (p.Leu126=) | |
3 | g.122262002A>C | CA354151838 | CASR | c.967A>C (p.Lys323Gln) c.484A>C (p.Lys162Gln) c.379A>C (p.Lys127Gln) | |
3 | g.122262002A>G | CA354151842 | CASR | c.967A>G (p.Lys323Glu) c.484A>G (p.Lys162Glu) c.379A>G (p.Lys127Glu) | |
3 | g.122262002A>T | CA354151840 | CASR | c.967A>T (p.Lys323Ter) c.484A>T (p.Lys162Ter) c.379A>T (p.Lys127Ter) | gnomAD v4 |
3 | g.122262003A= | CA1397873266 | CASR | c.968A= (p.Lys323=) c.485A= (p.Lys162=) c.380A= (p.Lys127=) | |
3 | g.122262003A>C | CA354151845 | CASR | c.968A>C (p.Lys323Thr) c.485A>C (p.Lys162Thr) c.380A>C (p.Lys127Thr) | ClinVar dbSNP |
3 | g.122262003A>G | CA354151851 | CASR | c.968A>G (p.Lys323Arg) c.485A>G (p.Lys162Arg) c.380A>G (p.Lys127Arg) | |
3 | g.122262003A>T | CA354151848 | CASR | c.968A>T (p.Lys323Met) c.485A>T (p.Lys162Met) c.380A>T (p.Lys127Met) | |
3 | g.122262004G>A | CA435424689 | CASR | c.969G>A (p.Lys323=) c.486G>A (p.Lys162=) c.381G>A (p.Lys127=) | ClinVar dbSNP |
3 | g.122262004G>C | CA354151853 | CASR | c.969G>C (p.Lys323Asn) c.486G>C (p.Lys162Asn) c.381G>C (p.Lys127Asn) | |
3 | g.122262004G= | CA1397873268 | CASR | c.969G= (p.Lys323=) c.486G= (p.Lys162=) c.381G= (p.Lys127=) | |
3 | g.122262004G>T | CA354151856 | CASR | c.969G>T (p.Lys323Asn) c.486G>T (p.Lys162Asn) c.381G>T (p.Lys127Asn) | |
3 | g.122262005G>A | CA354151859 | CASR | c.970G>A (p.Ala324Thr) c.487G>A (p.Ala163Thr) c.382G>A (p.Ala128Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.122262005G>C | CA2569568 | CASR | c.970G>C (p.Ala324Pro) c.487G>C (p.Ala163Pro) c.382G>C (p.Ala128Pro) | ClinVar dbSNP ExAC gnomAD v2 |
3 | g.122262005G= | CA1397873270 | CASR | c.970G= (p.Ala324=) c.487G= (p.Ala163=) c.382G= (p.Ala128=) | |
3 | g.122262005G>T | CA354151863 | CASR | c.970G>T (p.Ala324Ser) c.487G>T (p.Ala163Ser) c.382G>T (p.Ala128Ser) | |
3 | g.122262006C>A | CA354151871 | CASR | c.971C>A (p.Ala324Asp) c.488C>A (p.Ala163Asp) c.383C>A (p.Ala128Asp) | ClinVar |
3 | g.122262006C>G | CA354151869 | CASR | c.971C>G (p.Ala324Gly) c.488C>G (p.Ala163Gly) c.383C>G (p.Ala128Gly) | ClinVar |
3 | g.122262006C>T | CA354151867 | CASR | c.971C>T (p.Ala324Val) c.488C>T (p.Ala163Val) c.383C>T (p.Ala128Val) | |
3 | g.122262007T>A | CA435424692 | CASR | c.972T>A (p.Ala324=) c.489T>A (p.Ala163=) c.384T>A (p.Ala128=) | |
3 | g.122262007T>C | CA435424693 | CASR | c.972T>C (p.Ala324=) c.489T>C (p.Ala163=) c.384T>C (p.Ala128=) | |
3 | g.122262007T>G | CA435424694 | CASR | c.972T>G (p.Ala324=) c.489T>G (p.Ala163=) c.384T>G (p.Ala128=) | |
3 | g.122262008G>A | CA354151874 | CASR | c.973G>A (p.Gly325Arg) c.490G>A (p.Gly164Arg) c.385G>A (p.Gly129Arg) | ClinVar COSMIC |
3 | g.122262008G>C | CA2569569 | CASR | c.973G>C (p.Gly325Arg) c.490G>C (p.Gly164Arg) c.385G>C (p.Gly129Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262008G= | CA1397873271 | CASR | c.973G= (p.Gly325=) c.490G= (p.Gly164=) c.385G= (p.Gly129=) | |
3 | g.122262008G>T | CA354151877 | CASR | c.973G>T (p.Gly325Trp) c.490G>T (p.Gly164Trp) c.385G>T (p.Gly129Trp) | |
3 | g.122262009G>A | CA213606 | CASR | c.974G>A (p.Gly325Glu) c.491G>A (p.Gly164Glu) c.386G>A (p.Gly129Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122262009G>C | CA82738718 | CASR | c.974G>C (p.Gly325Ala) c.491G>C (p.Gly164Ala) c.386G>C (p.Gly129Ala) | dbSNP |
3 | g.122262009G= | CA1397873273 | CASR | c.974G= (p.Gly325=) c.491G= (p.Gly164=) c.386G= (p.Gly129=) | |
3 | g.122262009G>T | CA354151882 | CASR | c.974G>T (p.Gly325Val) c.491G>T (p.Gly164Val) c.386G>T (p.Gly129Val) | |
3 | g.122262010G>A | CA435424699 | CASR | c.975G>A (p.Gly325=) c.492G>A (p.Gly164=) c.387G>A (p.Gly129=) | ClinVar |
3 | g.122262010G>C | CA435424700 | CASR | c.975G>C (p.Gly325=) c.492G>C (p.Gly164=) c.387G>C (p.Gly129=) | |
3 | g.122262010G>T | CA435424702 | CASR | c.975G>T (p.Gly325=) c.492G>T (p.Gly164=) c.387G>T (p.Gly129=) | gnomAD v4 |
3 | g.122262011C>A | CA354151889 | CASR | c.976C>A (p.Gln326Lys) c.493C>A (p.Gln165Lys) c.388C>A (p.Gln130Lys) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122262011C= | CA1397873276 | CASR | c.976C= (p.Gln326=) c.493C= (p.Gln165=) c.388C= (p.Gln130=) | |
3 | g.122262011C>G | CA354151884 | CASR | c.976C>G (p.Gln326Glu) c.493C>G (p.Gln165Glu) c.388C>G (p.Gln130Glu) | |
3 | g.122262011C>T | CA354151887 | CASR | c.976C>T (p.Gln326Ter) c.493C>T (p.Gln165Ter) c.388C>T (p.Gln130Ter) | ClinVar |
3 | g.122262012A>C | CA354151893 | CASR | c.977A>C (p.Gln326Pro) c.494A>C (p.Gln165Pro) c.389A>C (p.Gln130Pro) | |
3 | g.122262012A>G | CA354151895 | CASR | c.977A>G (p.Gln326Arg) c.494A>G (p.Gln165Arg) c.389A>G (p.Gln130Arg) | |
3 | g.122262012A>T | CA354151898 | CASR | c.977A>T (p.Gln326Leu) c.494A>T (p.Gln165Leu) c.389A>T (p.Gln130Leu) | ClinVar |
3 | g.122262013G>A | CA82738724 | CASR | c.978G>A (p.Gln326=) c.495G>A (p.Gln165=) c.390G>A (p.Gln130=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122262013G>C | CA354151901 | CASR | c.978G>C (p.Gln326His) c.495G>C (p.Gln165His) c.390G>C (p.Gln130His) | |
3 | g.122262013G= | CA1397873277 | CASR | c.978G= (p.Gln326=) c.495G= (p.Gln165=) c.390G= (p.Gln130=) | |
3 | g.122262013G>T | CA354151904 | CASR | c.978G>T (p.Gln326His) c.495G>T (p.Gln165His) c.390G>T (p.Gln130His) | |
3 | g.122262014A>C | CA354151908 | CASR | c.979A>C (p.Ile327Leu) c.496A>C (p.Ile166Leu) c.391A>C (p.Ile131Leu) | |
3 | g.122262014A>G | CA354151910 | CASR | c.979A>G (p.Ile327Val) c.496A>G (p.Ile166Val) c.391A>G (p.Ile131Val) | |
3 | g.122262014A>T | CA354151913 | CASR | c.979A>T (p.Ile327Phe) c.496A>T (p.Ile166Phe) c.391A>T (p.Ile131Phe) | |
3 | g.122262015T>A | CA354151916 | CASR | c.980T>A (p.Ile327Asn) c.497T>A (p.Ile166Asn) c.392T>A (p.Ile131Asn) | |
3 | g.122262015T>C | CA354151918 | CASR | c.980T>C (p.Ile327Thr) c.497T>C (p.Ile166Thr) c.392T>C (p.Ile131Thr) | |
3 | g.122262015T>G | CA354151921 | CASR | c.980T>G (p.Ile327Ser) c.497T>G (p.Ile166Ser) c.392T>G (p.Ile131Ser) | |
3 | g.122262016C>A | CA435424717 | CASR | c.981C>A (p.Ile327=) c.498C>A (p.Ile166=) c.393C>A (p.Ile131=) | |
3 | g.122262016C= | CA1397873280 | CASR | c.981C= (p.Ile327=) c.498C= (p.Ile166=) c.393C= (p.Ile131=) | |
3 | g.122262016C>G | CA354151923 | CASR | c.981C>G (p.Ile327Met) c.498C>G (p.Ile166Met) c.393C>G (p.Ile131Met) | ClinVar dbSNP |
3 | g.122262016C>T | CA435424713 | CASR | c.981C>T (p.Ile327=) c.498C>T (p.Ile166=) c.393C>T (p.Ile131=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122262017C>A | CA354151925 | CASR | c.982C>A (p.Pro328Thr) c.499C>A (p.Pro167Thr) c.394C>A (p.Pro132Thr) | |
3 | g.122262017C>G | CA354151931 | CASR | c.982C>G (p.Pro328Ala) c.499C>G (p.Pro167Ala) c.394C>G (p.Pro132Ala) | |
3 | g.122262017C>T | CA354151928 | CASR | c.982C>T (p.Pro328Ser) c.499C>T (p.Pro167Ser) c.394C>T (p.Pro132Ser) | |
3 | g.122262018C>A | CA354151935 | CASR | c.983C>A (p.Pro328Gln) c.500C>A (p.Pro167Gln) c.395C>A (p.Pro132Gln) | |
3 | g.122262018C>G | CA354151938 | CASR | c.983C>G (p.Pro328Arg) c.500C>G (p.Pro167Arg) c.395C>G (p.Pro132Arg) | |
3 | g.122262018C>T | CA354151941 | CASR | c.983C>T (p.Pro328Leu) c.500C>T (p.Pro167Leu) c.395C>T (p.Pro132Leu) | |
3 | g.122262019A>C | CA435424721 | CASR | c.984A>C (p.Pro328=) c.501A>C (p.Pro167=) c.396A>C (p.Pro132=) | |
3 | g.122262019A>G | CA435424723 | CASR | c.984A>G (p.Pro328=) c.501A>G (p.Pro167=) c.396A>G (p.Pro132=) | |
3 | g.122262019A>T | CA435424722 | CASR | c.984A>T (p.Pro328=) c.501A>T (p.Pro167=) c.396A>T (p.Pro132=) | |
3 | g.122262020G>A | CA354151945 | CASR | c.985G>A (p.Gly329Ser) c.502G>A (p.Gly168Ser) c.397G>A (p.Gly133Ser) | COSMIC |
3 | g.122262020G>C | CA354151947 | CASR | c.985G>C (p.Gly329Arg) c.502G>C (p.Gly168Arg) c.397G>C (p.Gly133Arg) | |
3 | g.122262020G>T | CA354151952 | CASR | c.985G>T (p.Gly329Cys) c.502G>T (p.Gly168Cys) c.397G>T (p.Gly133Cys) | |
3 | g.122262021_122262029del | CA2573136449 | CASR | c.986_994del (p.Gly329_Arg331del) c.503_511del (p.Gly168_Arg170del) c.398_406del (p.Gly133_Arg135del) | ClinVar dbSNP |
3 | g.122262021G>A | CA354151956 | CASR | c.986G>A (p.Gly329Asp) c.503G>A (p.Gly168Asp) c.398G>A (p.Gly133Asp) | |
3 | g.122262021G>C | CA354151961 | CASR | c.986G>C (p.Gly329Ala) c.503G>C (p.Gly168Ala) c.398G>C (p.Gly133Ala) | |
3 | g.122262021G>T | CA354151963 | CASR | c.986G>T (p.Gly329Val) c.503G>T (p.Gly168Val) c.398G>T (p.Gly133Val) | |
3 | g.122262022C>A | CA435424927 | CASR | c.987C>A (p.Gly329=) c.504C>A (p.Gly168=) c.399C>A (p.Gly133=) | gnomAD v4 |
3 | g.122262022C= | CA1397873282 | CASR | c.987C= (p.Gly329=) c.504C= (p.Gly168=) c.399C= (p.Gly133=) | |
3 | g.122262022C>G | CA435424928 | CASR | c.987C>G (p.Gly329=) c.504C>G (p.Gly168=) c.399C>G (p.Gly133=) | |
3 | g.122262022C>T | CA435424929 | CASR | c.987C>T (p.Gly329=) c.504C>T (p.Gly168=) c.399C>T (p.Gly133=) | ClinVar dbSNP gnomAD v4 |
3 | g.122262023T>A | CA354151965 | CASR | c.988T>A (p.Phe330Ile) c.505T>A (p.Phe169Ile) c.400T>A (p.Phe134Ile) | |
3 | g.122262023T>C | CA354151968 | CASR | c.988T>C (p.Phe330Leu) c.505T>C (p.Phe169Leu) c.400T>C (p.Phe134Leu) | gnomAD v4 |
3 | g.122262023T>G | CA354151970 | CASR | c.988T>G (p.Phe330Val) c.505T>G (p.Phe169Val) c.400T>G (p.Phe134Val) | |
3 | g.122262024T>A | CA354151975 | CASR | c.989T>A (p.Phe330Tyr) c.506T>A (p.Phe169Tyr) c.401T>A (p.Phe134Tyr) | |
3 | g.122262024T>C | CA354151973 | CASR | c.989T>C (p.Phe330Ser) c.506T>C (p.Phe169Ser) c.401T>C (p.Phe134Ser) | |
3 | g.122262024T>G | CA354151974 | CASR | c.989T>G (p.Phe330Cys) c.506T>G (p.Phe169Cys) c.401T>G (p.Phe134Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262024T= | CA1397873284 | CASR | c.989T= (p.Phe330=) c.506T= (p.Phe169=) c.401T= (p.Phe134=) | |
3 | g.122262025C>A | CA354151977 | CASR | c.990C>A (p.Phe330Leu) c.507C>A (p.Phe169Leu) c.402C>A (p.Phe134Leu) | |
3 | g.122262025C>G | CA354151980 | CASR | c.990C>G (p.Phe330Leu) c.507C>G (p.Phe169Leu) c.402C>G (p.Phe134Leu) | |
3 | g.122262025C>T | CA435424938 | CASR | c.990C>T (p.Phe330=) c.507C>T (p.Phe169=) c.402C>T (p.Phe134=) | |
3 | g.122262026C>A | CA435424939 | CASR | c.991C>A (p.Arg331=) c.508C>A (p.Arg170=) c.403C>A (p.Arg135=) | |
3 | g.122262026C= | CA1397873287 | CASR | c.991C= (p.Arg331=) c.508C= (p.Arg170=) c.403C= (p.Arg135=) | |
3 | g.122262026C>G | CA354151982 | CASR | c.991C>G (p.Arg331Gly) c.508C>G (p.Arg170Gly) c.403C>G (p.Arg135Gly) | |
3 | g.122262026C>T | CA354151985 | CASR | c.991C>T (p.Arg331Trp) c.508C>T (p.Arg170Trp) c.403C>T (p.Arg135Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122262027G>A | CA2569570 | CASR | c.992G>A (p.Arg331Gln) c.509G>A (p.Arg170Gln) c.404G>A (p.Arg135Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262027G>C | CA354151990 | CASR | c.992G>C (p.Arg331Pro) c.509G>C (p.Arg170Pro) c.404G>C (p.Arg135Pro) | ClinVar dbSNP |
3 | g.122262027G= | CA1397873290 | CASR | c.992G= (p.Arg331=) c.509G= (p.Arg170=) c.404G= (p.Arg135=) | |
3 | g.122262027G>T | CA354151992 | CASR | c.992G>T (p.Arg331Leu) c.509G>T (p.Arg170Leu) c.404G>T (p.Arg135Leu) | ClinVar dbSNP |
3 | g.122262029del | CA2740094564 | CASR | c.994del (p.Glu332AsnfsTer3) c.511del (p.Glu171AsnfsTer3) c.406del (p.Glu136AsnfsTer3) | ClinVar |
3 | g.122262028G>A | CA435424943 | CASR | c.993G>A (p.Arg331=) c.510G>A (p.Arg170=) c.405G>A (p.Arg135=) | gnomAD v4 COSMIC |
3 | g.122262028G>C | CA435424944 | CASR | c.993G>C (p.Arg331=) c.510G>C (p.Arg170=) c.405G>C (p.Arg135=) | |
3 | g.122262028G>T | CA435424945 | CASR | c.993G>T (p.Arg331=) c.510G>T (p.Arg170=) c.405G>T (p.Arg135=) | |
3 | g.122262029G>A | CA354151996 | CASR | c.994G>A (p.Glu332Lys) c.511G>A (p.Glu171Lys) c.406G>A (p.Glu136Lys) | ClinVar COSMIC |
3 | g.122262029G>C | CA354151998 | CASR | c.994G>C (p.Glu332Gln) c.511G>C (p.Glu171Gln) c.406G>C (p.Glu136Gln) | |
3 | g.122262029G>T | CA354152001 | CASR | c.994G>T (p.Glu332Ter) c.511G>T (p.Glu171Ter) c.406G>T (p.Glu136Ter) | |
3 | g.122262030A>C | CA354152008 | CASR | c.995A>C (p.Glu332Ala) c.512A>C (p.Glu171Ala) c.407A>C (p.Glu136Ala) | |
3 | g.122262030A>G | CA354152006 | CASR | c.995A>G (p.Glu332Gly) c.512A>G (p.Glu171Gly) c.407A>G (p.Glu136Gly) | ClinVar |
3 | g.122262030A>T | CA354152004 | CASR | c.995A>T (p.Glu332Val) c.512A>T (p.Glu171Val) c.407A>T (p.Glu136Val) | |
3 | g.122262031A>C | CA354152012 | CASR | c.996A>C (p.Glu332Asp) c.513A>C (p.Glu171Asp) c.408A>C (p.Glu136Asp) | |
3 | g.122262031A>G | CA435424952 | CASR | c.996A>G (p.Glu332=) c.513A>G (p.Glu171=) c.408A>G (p.Glu136=) | gnomAD v4 |
3 | g.122262031A>T | CA354152014 | CASR | c.996A>T (p.Glu332Asp) c.513A>T (p.Glu171Asp) c.408A>T (p.Glu136Asp) | |
3 | g.122262032T>A | CA354152016 | CASR | c.997T>A (p.Phe333Ile) c.514T>A (p.Phe172Ile) c.409T>A (p.Phe137Ile) | |
3 | g.122262032T>C | CA354152019 | CASR | c.997T>C (p.Phe333Leu) c.514T>C (p.Phe172Leu) c.409T>C (p.Phe137Leu) | |
3 | g.122262032T>G | CA354152021 | CASR | c.997T>G (p.Phe333Val) c.514T>G (p.Phe172Val) c.409T>G (p.Phe137Val) | |
3 | g.122262033T>A | CA354152025 | CASR | c.998T>A (p.Phe333Tyr) c.515T>A (p.Phe172Tyr) c.410T>A (p.Phe137Tyr) | |
3 | g.122262033T>C | CA354152027 | CASR | c.998T>C (p.Phe333Ser) c.515T>C (p.Phe172Ser) c.410T>C (p.Phe137Ser) | ClinVar |
3 | g.122262033T>G | CA354152030 | CASR | c.998T>G (p.Phe333Cys) c.515T>G (p.Phe172Cys) c.410T>G (p.Phe137Cys) | |
3 | g.122262034C>A | CA354152032 | CASR | c.999C>A (p.Phe333Leu) c.516C>A (p.Phe172Leu) c.411C>A (p.Phe137Leu) | |
3 | g.122262034C= | CA1397873292 | CASR | c.999C= (p.Phe333=) c.516C= (p.Phe172=) c.411C= (p.Phe137=) | |
3 | g.122262034C>G | CA354152035 | CASR | c.999C>G (p.Phe333Leu) c.516C>G (p.Phe172Leu) c.411C>G (p.Phe137Leu) | |
3 | g.122262034C>T | CA2569571 | CASR | c.999C>T (p.Phe333=) c.516C>T (p.Phe172=) c.411C>T (p.Phe137=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262035C>A | CA354152040 | CASR | c.1000C>A (p.Leu334Met) c.517C>A (p.Leu173Met) c.412C>A (p.Leu138Met) | |
3 | g.122262035C>G | CA354152042 | CASR | c.1000C>G (p.Leu334Val) c.517C>G (p.Leu173Val) c.412C>G (p.Leu138Val) | |
3 | g.122262035C>T | CA435424965 | CASR | c.1000C>T (p.Leu334=) c.517C>T (p.Leu173=) c.412C>T (p.Leu138=) | gnomAD v4 |
3 | g.122262036T>A | CA354152049 | CASR | c.1001T>A (p.Leu334Gln) c.518T>A (p.Leu173Gln) c.413T>A (p.Leu138Gln) | |
3 | g.122262036T>C | CA354152045 | CASR | c.1001T>C (p.Leu334Pro) c.518T>C (p.Leu173Pro) c.413T>C (p.Leu138Pro) | COSMIC |
3 | g.122262036T>G | CA354152047 | CASR | c.1001T>G (p.Leu334Arg) c.518T>G (p.Leu173Arg) c.413T>G (p.Leu138Arg) | |
3 | g.122262037G>A | CA435424970 | CASR | c.1002G>A (p.Leu334=) c.519G>A (p.Leu173=) c.414G>A (p.Leu138=) | ClinVar dbSNP |
3 | g.122262037G>C | CA435424971 | CASR | c.1002G>C (p.Leu334=) c.519G>C (p.Leu173=) c.414G>C (p.Leu138=) | |
3 | g.122262037G>T | CA435424972 | CASR | c.1002G>T (p.Leu334=) c.519G>T (p.Leu173=) c.414G>T (p.Leu138=) | |
3 | g.122262041_122262043del | CA2586972806 | CASR | c.1006_1008del (p.Lys336del) c.523_525del (p.Lys175del) c.418_420del (p.Lys140del) | |
3 | g.122262038A>C | CA354152053 | CASR | c.1003A>C (p.Lys335Gln) c.520A>C (p.Lys174Gln) c.415A>C (p.Lys139Gln) | |
3 | g.122262038A>G | CA354152055 | CASR | c.1003A>G (p.Lys335Glu) c.520A>G (p.Lys174Glu) c.415A>G (p.Lys139Glu) | |
3 | g.122262038A>T | CA354152058 | CASR | c.1003A>T (p.Lys335Ter) c.520A>T (p.Lys174Ter) c.415A>T (p.Lys139Ter) | |
3 | g.122262039A>C | CA354152062 | CASR | c.1004A>C (p.Lys335Thr) c.521A>C (p.Lys174Thr) c.416A>C (p.Lys139Thr) | |
3 | g.122262039A>G | CA354152065 | CASR | c.1004A>G (p.Lys335Arg) c.521A>G (p.Lys174Arg) c.416A>G (p.Lys139Arg) | |
3 | g.122262039A>T | CA354152068 | CASR | c.1004A>T (p.Lys335Met) c.521A>T (p.Lys174Met) c.416A>T (p.Lys139Met) | |
3 | g.122262040G>A | CA435424979 | CASR | c.1005G>A (p.Lys335=) c.522G>A (p.Lys174=) c.417G>A (p.Lys139=) | |
3 | g.122262040G>C | CA354152071 | CASR | c.1005G>C (p.Lys335Asn) c.522G>C (p.Lys174Asn) c.417G>C (p.Lys139Asn) | |
3 | g.122262040G>T | CA354152073 | CASR | c.1005G>T (p.Lys335Asn) c.522G>T (p.Lys174Asn) c.417G>T (p.Lys139Asn) | |
3 | g.122262041A= | CA1397873293 | CASR | c.1006A= (p.Lys336=) c.523A= (p.Lys175=) c.418A= (p.Lys140=) | |
3 | g.122262041A>C | CA354152075 | CASR | c.1006A>C (p.Lys336Gln) c.523A>C (p.Lys175Gln) c.418A>C (p.Lys140Gln) | |
3 | g.122262041A>G | CA354152078 | CASR | c.1006A>G (p.Lys336Glu) c.523A>G (p.Lys175Glu) c.418A>G (p.Lys140Glu) | dbSNP |
3 | g.122262041A>T | CA354152081 | CASR | c.1006A>T (p.Lys336Ter) c.523A>T (p.Lys175Ter) c.418A>T (p.Lys140Ter) | |
3 | g.122262042A>C | CA354152086 | CASR | c.1007A>C (p.Lys336Thr) c.524A>C (p.Lys175Thr) c.419A>C (p.Lys140Thr) | |
3 | g.122262042A>G | CA354152089 | CASR | c.1007A>G (p.Lys336Arg) c.524A>G (p.Lys175Arg) c.419A>G (p.Lys140Arg) | |
3 | g.122262042A>T | CA354152083 | CASR | c.1007A>T (p.Lys336Met) c.524A>T (p.Lys175Met) c.419A>T (p.Lys140Met) | |
3 | g.122262043G>A | CA435424990 | CASR | c.1008G>A (p.Lys336=) c.525G>A (p.Lys175=) c.420G>A (p.Lys140=) | |
3 | g.122262043G>C | CA2569573 | CASR | c.1008G>C (p.Lys336Asn) c.525G>C (p.Lys175Asn) c.420G>C (p.Lys140Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262043G= | CA1397873295 | CASR | c.1008G= (p.Lys336=) c.525G= (p.Lys175=) c.420G= (p.Lys140=) | |
3 | g.122262043G>T | CA2569572 | CASR | c.1008G>T (p.Lys336Asn) c.525G>T (p.Lys175Asn) c.420G>T (p.Lys140Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262044G>A | CA354152099 | CASR | c.1009G>A (p.Val337Ile) c.526G>A (p.Val176Ile) c.421G>A (p.Val141Ile) | dbSNP |
3 | g.122262044G>C | CA354152100 | CASR | c.1009G>C (p.Val337Leu) c.526G>C (p.Val176Leu) c.421G>C (p.Val141Leu) | |
3 | g.122262044G= | CA1397873299 | CASR | c.1009G= (p.Val337=) c.526G= (p.Val176=) c.421G= (p.Val141=) | |
3 | g.122262044G>T | CA2569574 | CASR | c.1009G>T (p.Val337Phe) c.526G>T (p.Val176Phe) c.421G>T (p.Val141Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262045T>A | CA354152101 | CASR | c.1010T>A (p.Val337Asp) c.527T>A (p.Val176Asp) c.422T>A (p.Val141Asp) | |
3 | g.122262045T>C | CA354152102 | CASR | c.1010T>C (p.Val337Ala) c.527T>C (p.Val176Ala) c.422T>C (p.Val141Ala) | ClinVar dbSNP |
3 | g.122262045T>G | CA354152104 | CASR | c.1010T>G (p.Val337Gly) c.527T>G (p.Val176Gly) c.422T>G (p.Val141Gly) | |
3 | g.122262046C>A | CA435424999 | CASR | c.1011C>A (p.Val337=) c.528C>A (p.Val176=) c.423C>A (p.Val141=) | |
3 | g.122262046C= | CA1397873302 | CASR | c.1011C= (p.Val337=) c.528C= (p.Val176=) c.423C= (p.Val141=) | |
3 | g.122262046C>G | CA2569575 | CASR | c.1011C>G (p.Val337=) c.528C>G (p.Val176=) c.423C>G (p.Val141=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262046C>T | CA435425000 | CASR | c.1011C>T (p.Val337=) c.528C>T (p.Val176=) c.423C>T (p.Val141=) | |
3 | g.122262047C>A | CA354152107 | CASR | c.1012C>A (p.His338Asn) c.529C>A (p.His177Asn) c.424C>A (p.His142Asn) | |
3 | g.122262047C= | CA1397873304 | CASR | c.1012C= (p.His338=) c.529C= (p.His177=) c.424C= (p.His142=) | |
3 | g.122262047C>G | CA354152108 | CASR | c.1012C>G (p.His338Asp) c.529C>G (p.His177Asp) c.424C>G (p.His142Asp) | |
3 | g.122262047C>T | CA354152111 | CASR | c.1012C>T (p.His338Tyr) c.529C>T (p.His177Tyr) c.424C>T (p.His142Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122262048A= | CA1397873305 | CASR | c.1013A= (p.His338=) c.530A= (p.His177=) c.425A= (p.His142=) | |
3 | g.122262048A>C | CA354152118 | CASR | c.1013A>C (p.His338Pro) c.530A>C (p.His177Pro) c.425A>C (p.His142Pro) | gnomAD v4 |
3 | g.122262048A>G | CA2569576 | CASR | c.1013A>G (p.His338Arg) c.530A>G (p.His177Arg) c.425A>G (p.His142Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262048A>T | CA354152114 | CASR | c.1013A>T (p.His338Leu) c.530A>T (p.His177Leu) c.425A>T (p.His142Leu) | |
3 | g.122262049T>A | CA354152123 | CASR | c.1014T>A (p.His338Gln) c.531T>A (p.His177Gln) c.426T>A (p.His142Gln) | |
3 | g.122262049T>C | CA435425009 | CASR | c.1014T>C (p.His338=) c.531T>C (p.His177=) c.426T>C (p.His142=) | ClinVar dbSNP |
3 | g.122262049T>G | CA354152126 | CASR | c.1014T>G (p.His338Gln) c.531T>G (p.His177Gln) c.426T>G (p.His142Gln) | |
3 | g.122262049T= | CA1397873307 | CASR | c.1014T= (p.His338=) c.531T= (p.His177=) c.426T= (p.His142=) | |
3 | g.122262050C>A | CA354152129 | CASR | c.1015C>A (p.Pro339Thr) c.532C>A (p.Pro178Thr) c.427C>A (p.Pro143Thr) | gnomAD v4 |
3 | g.122262050C>G | CA354152132 | CASR | c.1015C>G (p.Pro339Ala) c.532C>G (p.Pro178Ala) c.427C>G (p.Pro143Ala) | |
3 | g.122262050C>T | CA354152135 | CASR | c.1015C>T (p.Pro339Ser) c.532C>T (p.Pro178Ser) c.427C>T (p.Pro143Ser) | |
3 | g.122262051C>A | CA354152141 | CASR | c.1016C>A (p.Pro339His) c.533C>A (p.Pro178His) c.428C>A (p.Pro143His) | |
3 | g.122262051C= | CA1397873309 | CASR | c.1016C= (p.Pro339=) c.533C= (p.Pro178=) c.428C= (p.Pro143=) | |
3 | g.122262051C>G | CA354152136 | CASR | c.1016C>G (p.Pro339Arg) c.533C>G (p.Pro178Arg) c.428C>G (p.Pro143Arg) | ClinVar |
3 | g.122262051C>T | CA354152138 | CASR | c.1016C>T (p.Pro339Leu) c.533C>T (p.Pro178Leu) c.428C>T (p.Pro143Leu) | ClinVar dbSNP |