Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.204162030G>A | CA344341532 | REN | c.232C>T (p.Leu78Phe) c.118C>T (p.Leu40Phe) | gnomAD v3 gnomAD v4 |
1 | g.204162030G>C | CA344341534 | REN | c.232C>G (p.Leu78Val) c.118C>G (p.Leu40Val) | |
1 | g.204162030G= | CA2482058097 | REN | c.232C= (p.Leu78=) c.118C= (p.Leu40=) | |
1 | g.204162030G>T | CA344341537 | REN | c.232C>A (p.Leu78Ile) c.118C>A (p.Leu40Ile) | dbSNP gnomAD v2 |
1 | g.204162031G>A | CA422839253 | REN | c.231C>T (p.Ile77=) c.117C>T (p.Ile39=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204162031G>C | CA35737821 | REN | c.231C>G (p.Ile77Met) c.117C>G (p.Ile39Met) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204162031G= | CA1141807409 | REN | c.231C= (p.Ile77=) c.117C= (p.Ile39=) | |
1 | g.204162031G>T | CA422839254 | REN | c.231C>A (p.Ile77=) c.117C>A (p.Ile39=) | |
1 | g.204162032A= | CA1147805032 | REN | c.230T= (p.Ile77=) c.116T= (p.Ile39=) | |
1 | g.204162032A>C | CA1345024 | REN | c.230T>G (p.Ile77Ser) c.116T>G (p.Ile39Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204162032A>G | CA1345023 | REN | c.230T>C (p.Ile77Thr) c.116T>C (p.Ile39Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204162032A>T | CA344341542 | REN | c.230T>A (p.Ile77Asn) c.116T>A (p.Ile39Asn) | |
1 | g.204162033T>A | CA344341549 | REN | c.229A>T (p.Ile77Phe) c.115A>T (p.Ile39Phe) | gnomAD v4 |
1 | g.204162033T>C | CA344341550 | REN | c.229A>G (p.Ile77Val) c.115A>G (p.Ile39Val) | |
1 | g.204162033T>G | CA344341553 | REN | c.229A>C (p.Ile77Leu) c.115A>C (p.Ile39Leu) | |
1 | g.204162034C>A | CA422839255 | REN | c.228G>T (p.Val76=) c.114G>T (p.Val38=) | |
1 | g.204162034C= | CA2482058098 | REN | c.228G= (p.Val76=) c.114G= (p.Val38=) | |
1 | g.204162034C>G | CA422839256 | REN | c.228G>C (p.Val76=) c.114G>C (p.Val38=) | |
1 | g.204162034C>T | CA35737825 | REN | c.228G>A (p.Val76=) c.114G>A (p.Val38=) | dbSNP |
1 | g.204162035A>C | CA344341558 | REN | c.227T>G (p.Val76Gly) c.113T>G (p.Val38Gly) | |
1 | g.204162035A>G | CA344341559 | REN | c.227T>C (p.Val76Ala) c.113T>C (p.Val38Ala) | |
1 | g.204162035A>T | CA344341561 | REN | c.227T>A (p.Val76Glu) c.113T>A (p.Val38Glu) | gnomAD v3 gnomAD v4 |
1 | g.204162036C>A | CA344341563 | REN | c.226G>T (p.Val76Leu) c.112G>T (p.Val38Leu) | |
1 | g.204162036C= | CA2482058099 | REN | c.226G= (p.Val76=) c.112G= (p.Val38=) | |
1 | g.204162036C>G | CA344341567 | REN | c.226G>C (p.Val76Leu) c.112G>C (p.Val38Leu) | |
1 | g.204162036C>T | CA1345025 | REN | c.226G>A (p.Val76Met) c.112G>A (p.Val38Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.204162037G>A | CA1345026 | REN | c.225C>T (p.Ser75=) c.111C>T (p.Ser37=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204162037G>C | CA422839258 | REN | c.225C>G (p.Ser75=) c.111C>G (p.Ser37=) | |
1 | g.204162037G= | CA1143998057 | REN | c.225C= (p.Ser75=) c.111C= (p.Ser37=) | |
1 | g.204162037G>T | CA422839257 | REN | c.225C>A (p.Ser75=) c.111C>A (p.Ser37=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204162038G>A | CA344341572 | REN | c.224C>T (p.Ser75Phe) c.110C>T (p.Ser37Phe) | |
1 | g.204162038G>C | CA344341574 | REN | c.224C>G (p.Ser75Cys) c.110C>G (p.Ser37Cys) | |
1 | g.204162038G>T | CA344341576 | REN | c.224C>A (p.Ser75Tyr) c.110C>A (p.Ser37Tyr) | |
1 | g.204162039A>C | CA344341579 | REN | c.223T>G (p.Ser75Ala) c.109T>G (p.Ser37Ala) | |
1 | g.204162039A>G | CA344341583 | REN | c.223T>C (p.Ser75Pro) c.109T>C (p.Ser37Pro) | |
1 | g.204162039A>T | CA344341581 | REN | c.223T>A (p.Ser75Thr) c.109T>A (p.Ser37Thr) | gnomAD v4 |
1 | g.204162040G>A | CA1345027 | REN | c.222C>T (p.Ser74=) c.108C>T (p.Ser36=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204162040G>C | CA422839259 | REN | c.222C>G (p.Ser74=) c.108C>G (p.Ser36=) | |
1 | g.204162040G= | CA2482058100 | REN | c.222C= (p.Ser74=) c.108C= (p.Ser36=) | |
1 | g.204162040G>T | CA422839260 | REN | c.222C>A (p.Ser74=) c.108C>A (p.Ser36=) | |
1 | g.204162041G>A | CA1345029 | REN | c.221C>T (p.Ser74Phe) c.107C>T (p.Ser36Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204162041G>C | CA344341590 | REN | c.221C>G (p.Ser74Cys) c.107C>G (p.Ser36Cys) | |
1 | g.204162041G= | CA1144954157 | REN | c.221C= (p.Ser74=) c.107C= (p.Ser36=) | |
1 | g.204162041G>T | CA1345028 | REN | c.221C>A (p.Ser74Tyr) c.107C>A (p.Ser36Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204162042A>C | CA344341594 | REN | c.220T>G (p.Ser74Ala) c.106T>G (p.Ser36Ala) | |
1 | g.204162042A>G | CA344341596 | REN | c.220T>C (p.Ser74Pro) c.106T>C (p.Ser36Pro) | |
1 | g.204162042A>T | CA344341598 | REN | c.220T>A (p.Ser74Thr) c.106T>A (p.Ser36Thr) | |
1 | g.204162043G>A | CA422839261 | REN | c.219C>T (p.Thr73=) c.105C>T (p.Thr35=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204162043G>C | CA422839262 | REN | c.219C>G (p.Thr73=) c.105C>G (p.Thr35=) | |
1 | g.204162043G= | CA2482058101 | REN | c.219C= (p.Thr73=) c.105C= (p.Thr35=) | |
1 | g.204162043G>T | CA422839263 | REN | c.219C>A (p.Thr73=) c.105C>A (p.Thr35=) | |
1 | g.204162044G>A | CA344341659 | REN | c.218C>T (p.Thr73Ile) c.104C>T (p.Thr35Ile) | dbSNP |
1 | g.204162044G>C | CA344341662 | REN | c.218C>G (p.Thr73Ser) c.104C>G (p.Thr35Ser) | |
1 | g.204162044G= | CA2482058102 | REN | c.218C= (p.Thr73=) c.104C= (p.Thr35=) | |
1 | g.204162044G>T | CA1345030 | REN | c.218C>A (p.Thr73Asn) c.104C>A (p.Thr35Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204162045T>A | CA344341668 | REN | c.217A>T (p.Thr73Ser) c.103A>T (p.Thr35Ser) | |
1 | g.204162045T>C | CA344341670 | REN | c.217A>G (p.Thr73Ala) c.103A>G (p.Thr35Ala) | gnomAD v4 |
1 | g.204162045T>G | CA344341672 | REN | c.217A>C (p.Thr73Pro) c.103A>C (p.Thr35Pro) | |
1 | g.204162046G>A | CA1345031 | REN | c.216C>T (p.Thr72=) c.102C>T (p.Thr34=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204162046G>C | CA422839264 | REN | c.216C>G (p.Thr72=) c.102C>G (p.Thr34=) | |
1 | g.204162046G= | CA2482058103 | REN | c.216C= (p.Thr72=) c.102C= (p.Thr34=) | |
1 | g.204162046G>T | CA422839265 | REN | c.216C>A (p.Thr72=) c.102C>A (p.Thr34=) | |
1 | g.204162047G>A | CA344341680 | REN | c.215C>T (p.Thr72Ile) c.101C>T (p.Thr34Ile) | gnomAD v4 |
1 | g.204162047G>C | CA344341678 | REN | c.215C>G (p.Thr72Ser) c.101C>G (p.Thr34Ser) | gnomAD v4 |
1 | g.204162047G= | CA1146502978 | REN | c.215C= (p.Thr72=) c.101C= (p.Thr34=) | |
1 | g.204162047G>T | CA1345032 | REN | c.215C>A (p.Thr72Asn) c.101C>A (p.Thr34Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204162048T>A | CA344341684 | REN | c.214A>T (p.Thr72Ser) c.100A>T (p.Thr34Ser) | |
1 | g.204162048T>C | CA344341686 | REN | c.214A>G (p.Thr72Ala) c.100A>G (p.Thr34Ala) | |
1 | g.204162048T>G | CA344341689 | REN | c.214A>C (p.Thr72Pro) c.100A>C (p.Thr34Pro) | |
1 | g.204162049G>A | CA35737835 | REN | c.213C>T (p.Asn71=) c.99C>T (p.Asn33=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204162049G>C | CA344341693 | REN | c.213C>G (p.Asn71Lys) c.99C>G (p.Asn33Lys) | |
1 | g.204162049G= | CA1146315278 | REN | c.213C= (p.Asn71=) c.99C= (p.Asn33=) | |
1 | g.204162049G>T | CA344341696 | REN | c.213C>A (p.Asn71Lys) c.99C>A (p.Asn33Lys) | |
1 | g.204162050T>A | CA344341704 | REN | c.212A>T (p.Asn71Ile) c.98A>T (p.Asn33Ile) | |
1 | g.204162050T>C | CA344341701 | REN | c.212A>G (p.Asn71Ser) c.98A>G (p.Asn33Ser) | |
1 | g.204162050T>G | CA344341698 | REN | c.212A>C (p.Asn71Thr) c.98A>C (p.Asn33Thr) | |
1 | g.204162051T>A | CA344341708 | REN | c.211A>T (p.Asn71Tyr) c.97A>T (p.Asn33Tyr) | |
1 | g.204162051T>C | CA1345033 | REN | c.211A>G (p.Asn71Asp) c.97A>G (p.Asn33Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204162051T>G | CA344341712 | REN | c.211A>C (p.Asn71His) c.97A>C (p.Asn33His) | |
1 | g.204162051T= | CA2482058104 | REN | c.211A= (p.Asn71=) c.97A= (p.Asn33=) | |
1 | g.204162052del | CA2747425980 | REN | c.210del (p.Asn71ThrfsTer6) c.96del (p.Asn33ThrfsTer6) | |
1 | g.204162052G>A | CA422839313 | REN | c.210C>T (p.Gly70=) c.96C>T (p.Gly32=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204162052G>C | CA422839314 | REN | c.210C>G (p.Gly70=) c.96C>G (p.Gly32=) | |
1 | g.204162052G= | CA2482058105 | REN | c.210C= (p.Gly70=) c.96C= (p.Gly32=) | |
1 | g.204162052G>T | CA422839315 | REN | c.210C>A (p.Gly70=) c.96C>A (p.Gly32=) | |
1 | g.204162053C>A | CA344341716 | REN | c.209G>T (p.Gly70Val) c.95G>T (p.Gly32Val) | |
1 | g.204162053C= | CA2482058106 | REN | c.209G= (p.Gly70=) c.95G= (p.Gly32=) | |
1 | g.204162053C>G | CA344341718 | REN | c.209G>C (p.Gly70Ala) c.95G>C (p.Gly32Ala) | |
1 | g.204162053C>T | CA1345034 | REN | c.209G>A (p.Gly70Asp) c.95G>A (p.Gly32Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204162054C>A | CA344341722 | REN | c.208G>T (p.Gly70Cys) c.94G>T (p.Gly32Cys) | |
1 | g.204162054C>G | CA344341727 | REN | c.208G>C (p.Gly70Arg) c.94G>C (p.Gly32Arg) | |
1 | g.204162054C>T | CA344341725 | REN | c.208G>A (p.Gly70Ser) c.94G>A (p.Gly32Ser) | |
1 | g.204162054_204162058delinsCAAGT | CA2482058107 | REN | c.204_208delinsACTTG (p.Thr68=) c.90_94delinsACTTG (p.Thr30=) | |
1 | g.204162055A= | CA2482058108 | REN | c.207T= (p.Leu69=) c.93T= (p.Leu31=) | |
1 | g.204162055A>C | CA422839316 | REN | c.207T>G (p.Leu69=) c.93T>G (p.Leu31=) | gnomAD v4 |
1 | g.204162055A>G | CA1345036 | REN | c.207T>C (p.Leu69=) c.93T>C (p.Leu31=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204162055A>T | CA422839317 | REN | c.207T>A (p.Leu69=) c.93T>A (p.Leu31=) | |
1 | g.204162055_204162058del | CA1345035 | REN | c.204_207del (p.Leu69AlafsTer7) c.90_93del (p.Leu31AlafsTer7) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204162056A>C | CA344341733 | REN | c.206T>G (p.Leu69Arg) c.92T>G (p.Leu31Arg) | |
1 | g.204162056A>G | CA344341735 | REN | c.206T>C (p.Leu69Pro) c.92T>C (p.Leu31Pro) | |
1 | g.204162056A>T | CA344341737 | REN | c.206T>A (p.Leu69His) c.92T>A (p.Leu31His) | |
1 | g.204162057G>A | CA344341739 | REN | c.205C>T (p.Leu69Phe) c.91C>T (p.Leu31Phe) | gnomAD v4 |
1 | g.204162057G>C | CA35737842 | REN | c.205C>G (p.Leu69Val) c.91C>G (p.Leu31Val) | dbSNP |
1 | g.204162057G= | CA2482058109 | REN | c.205C= (p.Leu69=) c.91C= (p.Leu31=) | |
1 | g.204162057G>T | CA344341742 | REN | c.205C>A (p.Leu69Ile) c.91C>A (p.Leu31Ile) | |
1 | g.204162058T>A | CA422839319 | REN | c.204A>T (p.Thr68=) c.90A>T (p.Thr30=) | |
1 | g.204162058T>C | CA422839318 | REN | c.204A>G (p.Thr68=) c.90A>G (p.Thr30=) | |
1 | g.204162058T>G | CA1345037 | REN | c.204A>C (p.Thr68=) c.90A>C (p.Thr30=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204162058T= | CA1139773017 | REN | c.204A= (p.Thr68=) c.90A= (p.Thr30=) | |
1 | g.204162059G>A | CA35737848 | REN | c.203C>T (p.Thr68Ile) c.89C>T (p.Thr30Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204162059G>C | CA344341748 | REN | c.203C>G (p.Thr68Arg) c.89C>G (p.Thr30Arg) | |
1 | g.204162059G= | CA2482058110 | REN | c.203C= (p.Thr68=) c.89C= (p.Thr30=) | |
1 | g.204162059G>T | CA344341750 | REN | c.203C>A (p.Thr68Lys) c.89C>A (p.Thr30Lys) | |
1 | g.204162060T>A | CA344341757 | REN | c.202A>T (p.Thr68Ser) c.88A>T (p.Thr30Ser) | |
1 | g.204162060T>C | CA344341753 | REN | c.202A>G (p.Thr68Ala) c.88A>G (p.Thr30Ala) | |
1 | g.204162060T>G | CA344341755 | REN | c.202A>C (p.Thr68Pro) c.88A>C (p.Thr30Pro) | |
1 | g.204162061C>A | CA422839320 | REN | c.201G>T (p.Leu67=) c.87G>T (p.Leu29=) | |
1 | g.204162061C>G | CA422839321 | REN | c.201G>C (p.Leu67=) c.87G>C (p.Leu29=) | |
1 | g.204162061C>T | CA422839322 | REN | c.201G>A (p.Leu67=) c.87G>A (p.Leu29=) | COSMIC |
1 | g.204162062A>C | CA344341758 | REN | c.200T>G (p.Leu67Arg) c.86T>G (p.Leu29Arg) | |
1 | g.204162062A>G | CA344341759 | REN | c.200T>C (p.Leu67Pro) c.86T>C (p.Leu29Pro) | |
1 | g.204162062A>T | CA344341760 | REN | c.200T>A (p.Leu67Gln) c.86T>A (p.Leu29Gln) | |
1 | g.204162063G>A | CA1345038 | REN | c.199C>T (p.Leu67=) c.85C>T (p.Leu29=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204162063G>C | CA344341763 | REN | c.199C>G (p.Leu67Val) c.85C>G (p.Leu29Val) | |
1 | g.204162063G= | CA2482058111 | REN | c.199C= (p.Leu67=) c.85C= (p.Leu29=) | |
1 | g.204162063G>T | CA344341765 | REN | c.199C>A (p.Leu67Met) c.85C>A (p.Leu29Met) | |
1 | g.204162064C>A | CA344341766 | REN | c.198G>T (p.Arg66Ser) c.84G>T (p.Arg28Ser) | |
1 | g.204162064C>G | CA344341768 | REN | c.198G>C (p.Arg66Ser) c.84G>C (p.Arg28Ser) | |
1 | g.204162064C>T | CA422839323 | REN | c.198G>A (p.Arg66=) c.84G>A (p.Arg28=) | |
1 | g.204162065C>A | CA1345039 | REN | c.197G>T (p.Arg66Met) c.83G>T (p.Arg28Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204162065C= | CA2482058112 | REN | c.197G= (p.Arg66=) c.83G= (p.Arg28=) | |
1 | g.204162065C>G | CA344341770 | REN | c.197G>C (p.Arg66Thr) c.83G>C (p.Arg28Thr) | |
1 | g.204162065C>T | CA344341772 | REN | c.197G>A (p.Arg66Lys) c.83G>A (p.Arg28Lys) | |
1 | g.204162066T>A | CA344341774 | REN | c.196A>T (p.Arg66Trp) c.82A>T (p.Arg28Trp) | |
1 | g.204162066T>C | CA344341775 | REN | c.196A>G (p.Arg66Gly) c.82A>G (p.Arg28Gly) | |
1 | g.204162066T>G | CA422839324 | REN | c.196A>C (p.Arg66=) c.82A>C (p.Arg28=) | |
1 | g.204162067C>A | CA344341780 | REN | c.195G>T (p.Lys65Asn) c.81G>T (p.Lys27Asn) | |
1 | g.204162067C= | CA2482058113 | REN | c.195G= (p.Lys65=) c.81G= (p.Lys27=) | |
1 | g.204162067C>G | CA344341777 | REN | c.195G>C (p.Lys65Asn) c.81G>C (p.Lys27Asn) | |
1 | g.204162067C>T | CA422839325 | REN | c.195G>A (p.Lys65=) c.81G>A (p.Lys27=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204162068T>A | CA344341781 | REN | c.194A>T (p.Lys65Met) c.80A>T (p.Lys27Met) | |
1 | g.204162068T>C | CA344341783 | REN | c.194A>G (p.Lys65Arg) c.80A>G (p.Lys27Arg) | |
1 | g.204162068T>G | CA344341784 | REN | c.194A>C (p.Lys65Thr) c.80A>C (p.Lys27Thr) | |
1 | g.204162069T>A | CA344341786 | REN | c.193A>T (p.Lys65Ter) c.79A>T (p.Lys27Ter) | |
1 | g.204162069T>C | CA344341788 | REN | c.193A>G (p.Lys65Glu) c.79A>G (p.Lys27Glu) | |
1 | g.204162069T>G | CA344341790 | REN | c.193A>C (p.Lys65Gln) c.79A>C (p.Lys27Gln) | |
1 | g.204162069_204162070delinsTC | CA2482058114 | REN | c.192_193delinsGA (p.Met64=) c.78_79delinsGA (p.Met26=) | |
1 | g.204162070del | CA1345040 | REN | c.192del (p.Met64IlefsTer4) c.78del (p.Met26IlefsTer4) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204162070C>A | CA344341793 | REN | c.192G>T (p.Met64Ile) c.78G>T (p.Met26Ile) | |
1 | g.204162070C>G | CA344341795 | REN | c.192G>C (p.Met64Ile) c.78G>C (p.Met26Ile) | |
1 | g.204162070C>T | CA344341797 | REN | c.192G>A (p.Met64Ile) c.78G>A (p.Met26Ile) | |
1 | g.204162071A= | CA2482058115 | REN | c.191T= (p.Met64=) c.77T= (p.Met26=) | |
1 | g.204162071A>C | CA344341801 | REN | c.191T>G (p.Met64Arg) c.77T>G (p.Met26Arg) | |
1 | g.204162071A>G | CA344341802 | REN | c.191T>C (p.Met64Thr) c.77T>C (p.Met26Thr) | |
1 | g.204162071A>T | CA344341804 | REN | c.191T>A (p.Met64Lys) c.77T>A (p.Met26Lys) | dbSNP gnomAD v4 |
1 | g.204162072T>A | CA344341806 | REN | c.190A>T (p.Met64Leu) c.76A>T (p.Met26Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204162072T>C | CA35737858 | REN | c.190A>G (p.Met64Val) c.76A>G (p.Met26Val) | dbSNP gnomAD v4 |
1 | g.204162072T>G | CA344341808 | REN | c.190A>C (p.Met64Leu) c.76A>C (p.Met26Leu) | |
1 | g.204162072T= | CA2482058116 | REN | c.190A= (p.Met64=) c.76A= (p.Met26=) | |
1 | g.204162073G>A | CA422839326 | REN | c.189C>T (p.Pro63=) c.75C>T (p.Pro25=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204162073G>C | CA422839327 | REN | c.189C>G (p.Pro63=) c.75C>G (p.Pro25=) | |
1 | g.204162073G= | CA2482058117 | REN | c.189C= (p.Pro63=) c.75C= (p.Pro25=) | |
1 | g.204162073G>T | CA422839328 | REN | c.189C>A (p.Pro63=) c.75C>A (p.Pro25=) | |
1 | g.204162074G>A | CA344341811 | REN | c.188C>T (p.Pro63Leu) c.74C>T (p.Pro25Leu) | |
1 | g.204162074G>C | CA344341815 | REN | c.188C>G (p.Pro63Arg) c.74C>G (p.Pro25Arg) | dbSNP |
1 | g.204162074G= | CA2482058118 | REN | c.188C= (p.Pro63=) c.74C= (p.Pro25=) | |
1 | g.204162074G>T | CA344341813 | REN | c.188C>A (p.Pro63His) c.74C>A (p.Pro25His) | gnomAD v4 |
1 | g.204162075G>A | CA344341817 | REN | c.187C>T (p.Pro63Ser) c.73C>T (p.Pro25Ser) | |
1 | g.204162075G>C | CA344341819 | REN | c.187C>G (p.Pro63Ala) c.73C>G (p.Pro25Ala) | |
1 | g.204162075G>T | CA344341821 | REN | c.187C>A (p.Pro63Thr) c.73C>A (p.Pro25Thr) | gnomAD v4 |
1 | g.204162076T>A | CA344341823 | REN | c.186A>T (p.Gln62His) c.72A>T (p.Gln24His) | |
1 | g.204162076T>C | CA422839329 | REN | c.186A>G (p.Gln62=) c.72A>G (p.Gln24=) | |
1 | g.204162076T>G | CA344341825 | REN | c.186A>C (p.Gln62His) c.72A>C (p.Gln24His) | |
1 | g.204162076_204162079delinsTTGG | CA2482058119 | REN | c.183_186delinsCCAA (p.Ser61=) c.69_72delinsCCAA (p.Ser23=) | |
1 | g.204162077T>A | CA344341827 | REN | c.185A>T (p.Gln62Leu) c.71A>T (p.Gln24Leu) | |
1 | g.204162077T>C | CA344341829 | REN | c.185A>G (p.Gln62Arg) c.71A>G (p.Gln24Arg) | |
1 | g.204162077T>G | CA344341831 | REN | c.185A>C (p.Gln62Pro) c.71A>C (p.Gln24Pro) | gnomAD v4 |
1 | g.204162077_204162079del | CA2482058120 | REN | c.183_185del (p.Ser61_Gln62delinsArg) c.69_71del (p.Ser23_Gln24delinsArg) | dbSNP gnomAD v4 |
1 | g.204162078G>A | CA344341832 | REN | c.184C>T (p.Gln62Ter) c.70C>T (p.Gln24Ter) | |
1 | g.204162078G>C | CA344341834 | REN | c.184C>G (p.Gln62Glu) c.70C>G (p.Gln24Glu) | |
1 | g.204162078G>T | CA344341836 | REN | c.184C>A (p.Gln62Lys) c.70C>A (p.Gln24Lys) | |
1 | g.204162079G>A | CA422839330 | REN | c.183C>T (p.Ser61=) c.69C>T (p.Ser23=) | COSMIC |
1 | g.204162079G>C | CA344341837 | REN | c.183C>G (p.Ser61Arg) c.69C>G (p.Ser23Arg) | |
1 | g.204162079G>T | CA344341838 | REN | c.183C>A (p.Ser61Arg) c.69C>A (p.Ser23Arg) | |
1 | g.204162080C>A | CA344341840 | REN | c.182G>T (p.Ser61Ile) c.68G>T (p.Ser23Ile) | |
1 | g.204162080C>G | CA344341842 | REN | c.182G>C (p.Ser61Thr) c.68G>C (p.Ser23Thr) | |
1 | g.204162080C>T | CA344341841 | REN | c.182G>A (p.Ser61Asn) c.68G>A (p.Ser23Asn) | gnomAD v4 |
1 | g.204162081T>A | CA344341844 | REN | c.181A>T (p.Ser61Cys) c.67A>T (p.Ser23Cys) | |
1 | g.204162081T>C | CA344341845 | REN | c.181A>G (p.Ser61Gly) c.67A>G (p.Ser23Gly) | dbSNP gnomAD v4 |
1 | g.204162081T>G | CA344341846 | REN | c.181A>C (p.Ser61Arg) c.67A>C (p.Ser23Arg) | |
1 | g.204162081T= | CA2482058121 | REN | c.181A= (p.Ser61=) c.67A= (p.Ser23=) | |
1 | g.204162082C>A | CA344341848 | REN | c.180G>T (p.Trp60Cys) c.66G>T (p.Trp22Cys) | |
1 | g.204162082C>G | CA344341850 | REN | c.180G>C (p.Trp60Cys) c.66G>C (p.Trp22Cys) | |
1 | g.204162082C>T | CA344341851 | REN | c.180G>A (p.Trp60Ter) c.66G>A (p.Trp22Ter) | |
1 | g.204162083C>A | CA344341853 | REN | c.179G>T (p.Trp60Leu) c.65G>T (p.Trp22Leu) | |
1 | g.204162083C>G | CA344341854 | REN | c.179G>C (p.Trp60Ser) c.65G>C (p.Trp22Ser) | |
1 | g.204162083C>T | CA344341855 | REN | c.179G>A (p.Trp60Ter) c.65G>A (p.Trp22Ter) | gnomAD v4 |
1 | g.204162084A= | CA2482058122 | REN | c.178T= (p.Trp60=) c.64T= (p.Trp22=) | |
1 | g.204162084A>C | CA35737860 | REN | c.178T>G (p.Trp60Gly) c.64T>G (p.Trp22Gly) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204162084A>G | CA344341857 | REN | c.178T>C (p.Trp60Arg) c.64T>C (p.Trp22Arg) | |
1 | g.204162084A>T | CA1345041 | REN | c.178T>A (p.Trp60Arg) c.64T>A (p.Trp22Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204162085C>A | CA344341861 | REN | c.177G>T (p.Glu59Asp) c.63G>T (p.Glu21Asp) | |
1 | g.204162085C>G | CA344341862 | REN | c.177G>C (p.Glu59Asp) c.63G>C (p.Glu21Asp) | |
1 | g.204162085C>T | CA422839333 | REN | c.177G>A (p.Glu59=) c.63G>A (p.Glu21=) | gnomAD v4 |
1 | g.204162086T>A | CA344341865 | REN | c.176A>T (p.Glu59Val) c.62A>T (p.Glu21Val) | |
1 | g.204162086T>C | CA344341867 | REN | c.176A>G (p.Glu59Gly) c.62A>G (p.Glu21Gly) | |
1 | g.204162086T>G | CA344341869 | REN | c.176A>C (p.Glu59Ala) c.62A>C (p.Glu21Ala) | |
1 | g.204162087C>A | CA344341871 | REN | c.175G>T (p.Glu59Ter) c.61G>T (p.Glu21Ter) | |
1 | g.204162087C= | CA2482058123 | REN | c.175G= (p.Glu59=) c.61G= (p.Glu21=) | |
1 | g.204162087C>G | CA344341873 | REN | c.175G>C (p.Glu59Gln) c.61G>C (p.Glu21Gln) | |
1 | g.204162087C>T | CA1345042 | REN | c.175G>A (p.Glu59Lys) c.61G>A (p.Glu21Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.204162088G>A | CA1345043 | REN | c.174C>T (p.Pro58=) c.60C>T (p.Pro20=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.204162088G>C | CA422839334 | REN | c.174C>G (p.Pro58=) c.60C>G (p.Pro20=) | |
1 | g.204162088G= | CA2482058124 | REN | c.174C= (p.Pro58=) c.60C= (p.Pro20=) | |
1 | g.204162088G>T | CA422839336 | REN | c.174C>A (p.Pro58=) c.60C>A (p.Pro20=) | |
1 | g.204162089G>A | CA344341877 | REN | c.173C>T (p.Pro58Leu) c.59C>T (p.Pro20Leu) | dbSNP |
1 | g.204162089G>C | CA344341879 | REN | c.173C>G (p.Pro58Arg) c.59C>G (p.Pro20Arg) | |
1 | g.204162089G>T | CA344341881 | REN | c.173C>A (p.Pro58His) c.59C>A (p.Pro20His) | |
1 | g.204162090G>A | CA344341887 | REN | c.172C>T (p.Pro58Ser) c.58C>T (p.Pro20Ser) | |
1 | g.204162090G>C | CA344341883 | REN | c.172C>G (p.Pro58Ala) c.58C>G (p.Pro20Ala) | |
1 | g.204162090G>T | CA344341885 | REN | c.172C>A (p.Pro58Thr) c.58C>A (p.Pro20Thr) | |
1 | g.204162091A>C | CA422839341 | REN | c.171T>G (p.Gly57=) c.57T>G (p.Gly19=) | |
1 | g.204162091A>G | CA422839343 | REN | c.171T>C (p.Gly57=) c.57T>C (p.Gly19=) | |
1 | g.204162091A>T | CA422839342 | REN | c.171T>A (p.Gly57=) c.57T>A (p.Gly19=) | |
1 | g.204162092C>A | CA344341890 | REN | c.170G>T (p.Gly57Val) c.56G>T (p.Gly19Val) | |
1 | g.204162092C= | CA2482058125 | REN | c.170G= (p.Gly57=) c.56G= (p.Gly19=) | |
1 | g.204162092C>G | CA344341892 | REN | c.170G>C (p.Gly57Ala) c.56G>C (p.Gly19Ala) | |
1 | g.204162092C>T | CA344341894 | REN | c.170G>A (p.Gly57Asp) c.56G>A (p.Gly19Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204162093C>A | CA344341897 | REN | c.169G>T (p.Gly57Cys) c.55G>T (p.Gly19Cys) | |
1 | g.204162093C= | CA2482058126 | REN | c.169G= (p.Gly57=) c.55G= (p.Gly19=) | |
1 | g.204162093C>G | CA344341899 | REN | c.169G>C (p.Gly57Arg) c.55G>C (p.Gly19Arg) | |
1 | g.204162093C>T | CA1345044 | REN | c.169G>A (p.Gly57Ser) c.55G>A (p.Gly19Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204162094A>C | CA422839344 | REN | c.168T>G (p.Leu56=) c.54T>G (p.Leu18=) | |
1 | g.204162094A>G | CA422839345 | REN | c.168T>C (p.Leu56=) c.54T>C (p.Leu18=) | |
1 | g.204162094A>T | CA422839346 | REN | c.168T>A (p.Leu56=) c.54T>A (p.Leu18=) | |
1 | g.204162095A>C | CA344341901 | REN | c.167T>G (p.Leu56Arg) c.53T>G (p.Leu18Arg) | |
1 | g.204162095A>G | CA344341903 | REN | c.167T>C (p.Leu56Pro) c.53T>C (p.Leu18Pro) | |
1 | g.204162095A>T | CA344341905 | REN | c.167T>A (p.Leu56His) c.53T>A (p.Leu18His) | |
1 | g.204162096G>A | CA344341907 | REN | c.166C>T (p.Leu56Phe) c.52C>T (p.Leu18Phe) | |
1 | g.204162096G>C | CA344341909 | REN | c.166C>G (p.Leu56Val) c.52C>G (p.Leu18Val) | |
1 | g.204162096G>T | CA344341910 | REN | c.166C>A (p.Leu56Ile) c.52C>A (p.Leu18Ile) | |
1 | g.204162097C>A | CA1345045 | REN | c.165G>T (p.Arg55Ser) c.51G>T (p.Arg17Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204162097C= | CA1143540477 | REN | c.165G= (p.Arg55=) c.51G= (p.Arg17=) | |
1 | g.204162097C>G | CA1345046 | REN | c.165G>C (p.Arg55Ser) c.51G>C (p.Arg17Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204162097C>T | CA422839347 | REN | c.165G>A (p.Arg55=) c.51G>A (p.Arg17=) | gnomAD v4 |
1 | g.204162098C>A | CA344341915 | REN | c.164G>T (p.Arg55Met) c.50G>T (p.Arg17Met) | gnomAD v4 |
1 | g.204162098C= | CA2482058127 | REN | c.164G= (p.Arg55=) c.50G= (p.Arg17=) | |
1 | g.204162098C>G | CA35737883 | REN | c.164G>C (p.Arg55Thr) c.50G>C (p.Arg17Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204162098C>T | CA344341917 | REN | c.164G>A (p.Arg55Lys) c.50G>A (p.Arg17Lys) | gnomAD v4 |
1 | g.204162099T>A | CA344341919 | REN | c.163A>T (p.Arg55Trp) c.49A>T (p.Arg17Trp) | |
1 | g.204162099T>C | CA344341921 | REN | c.163A>G (p.Arg55Gly) c.49A>G (p.Arg17Gly) | |
1 | g.204162099T>G | CA422839348 | REN | c.163A>C (p.Arg55=) c.49A>C (p.Arg17=) | |
1 | g.204162100G>A | CA1345047 | REN | c.162C>T (p.Ala54=) c.48C>T (p.Ala16=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204162100G>C | CA422839349 | REN | c.162C>G (p.Ala54=) c.48C>G (p.Ala16=) | |
1 | g.204162100G= | CA2482058128 | REN | c.162C= (p.Ala54=) c.48C= (p.Ala16=) | |
1 | g.204162100G>T | CA422839350 | REN | c.162C>A (p.Ala54=) c.48C>A (p.Ala16=) | |
1 | g.204162101G>A | CA344341924 | REN | c.161C>T (p.Ala54Val) c.47C>T (p.Ala16Val) | gnomAD v4 |
1 | g.204162101G>C | CA344341926 | REN | c.161C>G (p.Ala54Gly) c.47C>G (p.Ala16Gly) | |
1 | g.204162101G>T | CA344341927 | REN | c.161C>A (p.Ala54Asp) c.47C>A (p.Ala16Asp) | |
1 | g.204162102C>A | CA344341928 | REN | c.160G>T (p.Ala54Ser) c.46G>T (p.Ala16Ser) | gnomAD v4 |
1 | g.204162102C>G | CA344341929 | REN | c.160G>C (p.Ala54Pro) c.46G>C (p.Ala16Pro) | |
1 | g.204162102C>T | CA344341931 | REN | c.160G>A (p.Ala54Thr) c.46G>A (p.Ala16Thr) | COSMIC |
1 | g.204162103C>A | CA344341934 | REN | c.159G>T (p.Met53Ile) c.45G>T (p.Met15Ile) | |
1 | g.204162103C= | CA2482058129 | REN | c.159G= (p.Met53=) c.45G= (p.Met15=) | |
1 | g.204162103C>G | CA344341935 | REN | c.159G>C (p.Met53Ile) c.45G>C (p.Met15Ile) | |
1 | g.204162103C>T | CA344341937 | REN | c.159G>A (p.Met53Ile) c.45G>A (p.Met15Ile) | dbSNP |
1 | g.204162104A= | CA2482058130 | REN | c.158T= (p.Met53=) c.44T= (p.Met15=) | |
1 | g.204162104A>C | CA344341942 | REN | c.158T>G (p.Met53Arg) c.44T>G (p.Met15Arg) | |
1 | g.204162104A>G | CA344341939 | REN | c.158T>C (p.Met53Thr) c.44T>C (p.Met15Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204162104A>T | CA344341940 | REN | c.158T>A (p.Met53Lys) c.44T>A (p.Met15Lys) | |
1 | g.204162105T>A | CA344341944 | REN | c.157A>T (p.Met53Leu) c.43A>T (p.Met15Leu) | |
1 | g.204162105T>C | CA344341946 | REN | c.157A>G (p.Met53Val) c.43A>G (p.Met15Val) | ClinVar gnomAD v4 |
1 | g.204162105T>G | CA344341947 | REN | c.157A>C (p.Met53Leu) c.43A>C (p.Met15Leu) | |
1 | g.204162106G>A | CA422839351 | REN | c.156C>T (p.Asp52=) c.42C>T (p.Asp14=) | |
1 | g.204162106G>C | CA344341949 | REN | c.156C>G (p.Asp52Glu) c.42C>G (p.Asp14Glu) | |
1 | g.204162106G>T | CA344341951 | REN | c.156C>A (p.Asp52Glu) c.42C>A (p.Asp14Glu) | |
1 | g.204162107T>A | CA344341953 | REN | c.155A>T (p.Asp52Val) c.41A>T (p.Asp14Val) | |
1 | g.204162107T>C | CA344341955 | REN | c.155A>G (p.Asp52Gly) c.41A>G (p.Asp14Gly) | |
1 | g.204162107T>G | CA344341956 | REN | c.155A>C (p.Asp52Ala) c.41A>C (p.Asp14Ala) | |
1 | g.204162108C>A | CA344341958 | REN | c.154G>T (p.Asp52Tyr) c.40G>T (p.Asp14Tyr) | gnomAD v4 |
1 | g.204162108C= | CA1148266790 | REN | c.154G= (p.Asp52=) c.40G= (p.Asp14=) | |
1 | g.204162108C>G | CA1345048 | REN | c.154G>C (p.Asp52His) c.40G>C (p.Asp14His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204162108C>T | CA344341961 | REN | c.154G>A (p.Asp52Asn) c.40G>A (p.Asp14Asn) | |
1 | g.204162109C>A | CA422839353 | REN | c.153G>T (p.Val51=) c.39G>T (p.Val13=) | |
1 | g.204162109C>G | CA422839354 | REN | c.153G>C (p.Val51=) c.39G>C (p.Val13=) | |
1 | g.204162109C>T | CA422839355 | REN | c.153G>A (p.Val51=) c.39G>A (p.Val13=) | |
1 | g.204162110A>C | CA344341967 | REN | c.152T>G (p.Val51Gly) c.38T>G (p.Val13Gly) | |
1 | g.204162110A>G | CA344341965 | REN | c.152T>C (p.Val51Ala) c.38T>C (p.Val13Ala) | gnomAD v4 |
1 | g.204162110A>T | CA344341963 | REN | c.152T>A (p.Val51Glu) c.38T>A (p.Val13Glu) | |
1 | g.204162111C>A | CA344341973 | REN | c.151G>T (p.Val51Leu) c.37G>T (p.Val13Leu) | |
1 | g.204162111C>G | CA344341970 | REN | c.151G>C (p.Val51Leu) c.37G>C (p.Val13Leu) | |
1 | g.204162111C>T | CA344341971 | REN | c.151G>A (p.Val51Met) c.37G>A (p.Val13Met) | |
1 | g.204162112A>C | CA422839356 | REN | c.150T>G (p.Gly50=) c.36T>G (p.Gly12=) | |
1 | g.204162112A>G | CA422839358 | REN | c.150T>C (p.Gly50=) c.36T>C (p.Gly12=) | gnomAD v4 |
1 | g.204162112A>T | CA422839357 | REN | c.150T>A (p.Gly50=) c.36T>A (p.Gly12=) | |
1 | g.204162113C>A | CA344341976 | REN | c.149G>T (p.Gly50Val) c.35G>T (p.Gly12Val) | gnomAD v4 |
1 | g.204162113C>G | CA344341978 | REN | c.149G>C (p.Gly50Ala) c.35G>C (p.Gly12Ala) | |
1 | g.204162113C>T | CA344341980 | REN | c.149G>A (p.Gly50Asp) c.35G>A (p.Gly12Asp) | |
1 | g.204162114C>A | CA344341982 | REN | c.148G>T (p.Gly50Cys) c.34G>T (p.Gly12Cys) | |
1 | g.204162114C>G | CA344341984 | REN | c.148G>C (p.Gly50Arg) c.34G>C (p.Gly12Arg) | |
1 | g.204162114C>T | CA344341986 | REN | c.148G>A (p.Gly50Ser) c.34G>A (p.Gly12Ser) | |
1 | g.204162115T>A | CA422839359 | REN | c.147A>T (p.Arg49=) c.33A>T (p.Arg11=) | |
1 | g.204162115T>C | CA422839360 | REN | c.147A>G (p.Arg49=) c.33A>G (p.Arg11=) | |
1 | g.204162115T>G | CA422839361 | REN | c.147A>C (p.Arg49=) c.33A>C (p.Arg11=) | |
1 | g.204162116C>A | CA344341988 | REN | c.146G>T (p.Arg49Leu) c.32G>T (p.Arg11Leu) | |
1 | g.204162116C= | CA2482058131 | REN | c.146G= (p.Arg49=) c.32G= (p.Arg11=) | |
1 | g.204162116C>G | CA344341990 | REN | c.146G>C (p.Arg49Pro) c.32G>C (p.Arg11Pro) | |
1 | g.204162116C>T | CA1345049 | REN | c.146G>A (p.Arg49Gln) c.32G>A (p.Arg11Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204162117G>A | CA122846 | REN | c.145C>T (p.Arg49Ter) c.31C>T (p.Arg11Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204162117G>C | CA344341993 | REN | c.145C>G (p.Arg49Gly) c.31C>G (p.Arg11Gly) | |
1 | g.204162117G= | CA1141581510 | REN | c.145C= (p.Arg49=) c.31C= (p.Arg11=) | |
1 | g.204162117G>T | CA422839362 | REN | c.145C>A (p.Arg49=) c.31C>A (p.Arg11=) | |
1 | g.204162118T>A | CA1345050 | REN | c.144A>T (p.Glu48Asp) c.30A>T (p.Glu10Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204162118T>C | CA422839363 | REN | c.144A>G (p.Glu48=) c.30A>G (p.Glu10=) | |
1 | g.204162118T>G | CA344341996 | REN | c.144A>C (p.Glu48Asp) c.30A>C (p.Glu10Asp) | |
1 | g.204162118T= | CA1148870460 | REN | c.144A= (p.Glu48=) c.30A= (p.Glu10=) | |
1 | g.204162119T>A | CA344342000 | REN | c.143A>T (p.Glu48Val) c.29A>T (p.Glu10Val) | |
1 | g.204162119T>C | CA344342001 | REN | c.143A>G (p.Glu48Gly) c.29A>G (p.Glu10Gly) | |
1 | g.204162119T>G | CA344342002 | REN | c.143A>C (p.Glu48Ala) c.29A>C (p.Glu10Ala) | |
1 | g.204162120C>A | CA344342003 | REN | c.142G>T (p.Glu48Ter) c.28G>T (p.Glu10Ter) | |
1 | g.204162120C>G | CA344342004 | REN | c.142G>C (p.Glu48Gln) c.28G>C (p.Glu10Gln) | |
1 | g.204162120C>T | CA344342005 | REN | c.142G>A (p.Glu48Lys) c.28G>A (p.Glu10Lys) | COSMIC |
1 | g.204162121C>A | CA344342006 | REN | c.141G>T (p.Lys47Asn) c.27G>T (p.Lys9Asn) | |
1 | g.204162121C>G | CA344342007 | REN | c.141G>C (p.Lys47Asn) c.27G>C (p.Lys9Asn) | |
1 | g.204162121C>T | CA422839364 | REN | c.141G>A (p.Lys47=) c.27G>A (p.Lys9=) | COSMIC |
1 | g.204162122T>A | CA344342008 | REN | c.140A>T (p.Lys47Met) c.26A>T (p.Lys9Met) | |
1 | g.204162122T>C | CA344342009 | REN | c.140A>G (p.Lys47Arg) c.26A>G (p.Lys9Arg) | |
1 | g.204162122T>G | CA344342010 | REN | c.140A>C (p.Lys47Thr) c.26A>C (p.Lys9Thr) | |
1 | g.204162123T>A | CA344342011 | REN | c.139A>T (p.Lys47Ter) c.25A>T (p.Lys9Ter) | |
1 | g.204162123T>C | CA344342012 | REN | c.139A>G (p.Lys47Glu) c.25A>G (p.Lys9Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204162123T>G | CA344342013 | REN | c.139A>C (p.Lys47Gln) c.25A>C (p.Lys9Gln) | |
1 | g.204162123T= | CA2482058132 | REN | c.139A= (p.Lys47=) c.25A= (p.Lys9=) | |
1 | g.204162124C>A | CA422839365 | REN | c.138G>T (p.Leu46=) c.24G>T (p.Leu8=) | gnomAD v4 |
1 | g.204162124C>G | CA422839366 | REN | c.138G>C (p.Leu46=) c.24G>C (p.Leu8=) | |
1 | g.204162124C>T | CA422839367 | REN | c.138G>A (p.Leu46=) c.24G>A (p.Leu8=) | |
1 | g.204162125A>C | CA344342015 | REN | c.137T>G (p.Leu46Arg) c.23T>G (p.Leu8Arg) | |
1 | g.204162125A>G | CA344342016 | REN | c.137T>C (p.Leu46Pro) c.23T>C (p.Leu8Pro) | |
1 | g.204162125A>T | CA344342014 | REN | c.137T>A (p.Leu46Gln) c.23T>A (p.Leu8Gln) | |
1 | g.204162126G>A | CA422839368 | REN | c.136C>T (p.Leu46=) c.22C>T (p.Leu8=) | |
1 | g.204162126G>C | CA344342017 | REN | c.136C>G (p.Leu46Val) c.22C>G (p.Leu8Val) | |
1 | g.204162126G>T | CA344342018 | REN | c.136C>A (p.Leu46Met) c.22C>A (p.Leu8Met) | |
1 | g.204162127G>A | CA422839369 | REN | c.135C>T (p.Ser45=) c.21C>T (p.Ser7=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204162127G>C | CA344342019 | REN | c.135C>G (p.Ser45Arg) c.21C>G (p.Ser7Arg) | |
1 | g.204162127G= | CA2482058133 | REN | c.135C= (p.Ser45=) c.21C= (p.Ser7=) | |
1 | g.204162127G>T | CA344342020 | REN | c.135C>A (p.Ser45Arg) c.21C>A (p.Ser7Arg) | |
1 | g.204162128C>A | CA344342021 | REN | c.134G>T (p.Ser45Ile) c.20G>T (p.Ser7Ile) | |
1 | g.204162128C>G | CA344342022 | REN | c.134G>C (p.Ser45Thr) c.20G>C (p.Ser7Thr) | |
1 | g.204162128C>T | CA344342023 | REN | c.134G>A (p.Ser45Asn) c.20G>A (p.Ser7Asn) | gnomAD v4 |
1 | g.204162129T>A | CA344342026 | REN | c.133A>T (p.Ser45Cys) c.19A>T (p.Ser7Cys) | |
1 | g.204162129T>C | CA344342024 | REN | c.133A>G (p.Ser45Gly) c.19A>G (p.Ser7Gly) | |
1 | g.204162129T>G | CA344342025 | REN | c.133A>C (p.Ser45Arg) c.19A>C (p.Ser7Arg) | |
1 | g.204162130T>A | CA344342027 | REN | c.132A>T (p.Glu44Asp) c.18A>T (p.Glu6Asp) | |
1 | g.204162130T>C | CA422839378 | REN | c.132A>G (p.Glu44=) c.18A>G (p.Glu6=) | |
1 | g.204162130T>G | CA344342028 | REN | c.132A>C (p.Glu44Asp) c.18A>C (p.Glu6Asp) | gnomAD v4 |