Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.50818889T>A | CA2679069780 | TFAP2B | c.-3T>A (n.-3T>A) c.-36T>A (n.-36T>A) c.90T>A (p.His30Gln) c.54T>A (p.His18Gln) | gnomAD v4 |
6 | g.50818891A= | CA1628063467 | TFAP2B | c.-1A= (n.-1A=) c.-34A= (n.-34A=) c.92A= (p.Glu31=) c.56A= (p.Glu19=) | |
6 | g.50818891A>T | CA825611785 | TFAP2B | c.-1A>T (n.-1A>T) c.-34A>T (n.-34A>T) c.92A>T (p.Glu31Val) c.56A>T (p.Glu19Val) | dbSNP |
6 | g.50818892A= | CA1628063469 | TFAP2B | c.1A= (p.Met1=) c.-33A= (n.-33A=) c.93A= (p.Glu31=) c.57A= (p.Glu19=) | |
6 | g.50818892A>C | CA364409614 | TFAP2B | c.1A>C (p.Met1Leu) c.-33A>C (n.-33A>C) c.93A>C (p.Glu31Asp) c.57A>C (p.Glu19Asp) | |
6 | g.50818892A>G | CA364409617 | TFAP2B | c.1A>G (p.Met1Val) c.-33A>G (n.-33A>G) c.93A>G (p.Glu31=) c.57A>G (p.Glu19=) | |
6 | g.50818892A>T | CA364409621 | TFAP2B | c.1A>T (p.Met1Leu) c.-33A>T (n.-33A>T) c.93A>T (p.Glu31Asp) c.57A>T (p.Glu19Asp) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.50818893T>A | CA364409632 | TFAP2B | c.2T>A (p.Met1Lys) c.-32T>A (n.-32T>A) c.94T>A (p.Cys32Ser) c.58T>A (p.Cys20Ser) | |
6 | g.50818893T>C | CA364409627 | TFAP2B | c.2T>C (p.Met1Thr) c.-32T>C (n.-32T>C) c.94T>C (p.Cys32Arg) c.58T>C (p.Cys20Arg) | |
6 | g.50818893T>G | CA3850245 | TFAP2B | c.2T>G (p.Met1Arg) c.-32T>G (n.-32T>G) c.94T>G (p.Cys32Gly) c.58T>G (p.Cys20Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.50818893T= | CA1628063472 | TFAP2B | c.2T= (p.Met1=) c.-32T= (n.-32T=) c.94T= (p.Cys32=) c.58T= (p.Cys20=) | |
6 | g.50818894G>A | CA364409637 | TFAP2B | c.3G>A (p.Met1Ile) c.-31G>A (n.-31G>A) c.95G>A (p.Cys32Tyr) c.59G>A (p.Cys20Tyr) | ClinVar dbSNP |
6 | g.50818894G>C | CA364409639 | TFAP2B | c.3G>C (p.Met1Ile) c.-31G>C (n.-31G>C) c.95G>C (p.Cys32Ser) c.59G>C (p.Cys20Ser) | |
6 | g.50818894G>T | CA364409643 | TFAP2B | c.3G>T (p.Met1Ile) c.-31G>T (n.-31G>T) c.95G>T (p.Cys32Phe) c.59G>T (p.Cys20Phe) | gnomAD v4 COSMIC |
6 | g.50818895C>A | CA364409647 | TFAP2B | c.4C>A (p.His2Asn) c.-30C>A (n.-30C>A) c.96C>A (p.Cys32Ter) c.60C>A (p.Cys20Ter) | |
6 | g.50818895C>G | CA364409649 | TFAP2B | c.4C>G (p.His2Asp) c.-30C>G (n.-30C>G) c.96C>G (p.Cys32Trp) c.60C>G (p.Cys20Trp) | |
6 | g.50818895C>T | CA364409652 | TFAP2B | c.4C>T (p.His2Tyr) c.-30C>T (n.-30C>T) c.96C>T (p.Cys32=) c.60C>T (p.Cys20=) | COSMIC |
6 | g.50818896A>C | CA364409657 | TFAP2B | c.5A>C (p.His2Pro) c.-29A>C (n.-29A>C) c.97A>C (p.Thr33Pro) c.61A>C (p.Thr21Pro) | |
6 | g.50818896A>G | CA364409659 | TFAP2B | c.5A>G (p.His2Arg) c.-29A>G (n.-29A>G) c.97A>G (p.Thr33Ala) c.61A>G (p.Thr21Ala) | gnomAD v4 |
6 | g.50818896A>T | CA364409664 | TFAP2B | c.5A>T (p.His2Leu) c.-29A>T (n.-29A>T) c.97A>T (p.Thr33Ser) c.61A>T (p.Thr21Ser) | |
6 | g.50818897C>A | CA364409667 | TFAP2B | c.6C>A (p.His2Gln) c.-28C>A (n.-28C>A) c.98C>A (p.Thr33Asn) c.62C>A (p.Thr21Asn) | |
6 | g.50818897C= | CA1628063475 | TFAP2B | c.6C= (p.His2=) c.-28C= (n.-28C=) c.98C= (p.Thr33=) c.62C= (p.Thr21=) | |
6 | g.50818897C>G | CA3850246 | TFAP2B | c.6C>G (p.His2Gln) c.-28C>G (n.-28C>G) c.98C>G (p.Thr33Ser) c.62C>G (p.Thr21Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.50818897C>T | CA450411580 | TFAP2B | c.6C>T (p.His2=) c.-28C>T (n.-28C>T) c.98C>T (p.Thr33Ile) c.62C>T (p.Thr21Ile) | gnomAD v4 |
6 | g.50818898T>A | CA364409673 | TFAP2B | c.7T>A (p.Ser3Thr) c.-27T>A (n.-27T>A) c.99T>A (p.Thr33=) c.63T>A (p.Thr21=) | |
6 | g.50818898T>C | CA364409671 | TFAP2B | c.7T>C (p.Ser3Pro) c.-27T>C (n.-27T>C) c.99T>C (p.Thr33=) c.63T>C (p.Thr21=) | |
6 | g.50818898T>G | CA364409670 | TFAP2B | c.7T>G (p.Ser3Ala) c.-27T>G (n.-27T>G) c.99T>G (p.Thr33=) c.63T>G (p.Thr21=) | |
6 | g.50818899C>A | CA138859456 | TFAP2B | c.8C>A (p.Ser3Ter) c.-26C>A (n.-26C>A) c.100C>A (p.His34Asn) c.64C>A (p.His22Asn) | dbSNP |
6 | g.50818899C= | CA1628063478 | TFAP2B | c.8C= (p.Ser3=) c.-26C= (n.-26C=) c.100C= (p.His34=) c.64C= (p.His22=) | |
6 | g.50818899C>G | CA364409679 | TFAP2B | c.8C>G (p.Ser3Ter) c.-26C>G (n.-26C>G) c.100C>G (p.His34Asp) c.64C>G (p.His22Asp) | |
6 | g.50818899C>T | CA364409684 | TFAP2B | c.8C>T (p.Ser3Leu) c.-26C>T (n.-26C>T) c.100C>T (p.His34Tyr) c.64C>T (p.His22Tyr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.50818900A>C | CA450411581 | TFAP2B | c.9A>C (p.Ser3=) c.-25A>C (n.-25A>C) c.101A>C (p.His34Pro) c.65A>C (p.His22Pro) | gnomAD v4 |
6 | g.50818900A>G | CA450411582 | TFAP2B | c.9A>G (p.Ser3=) c.-25A>G (n.-25A>G) c.101A>G (p.His34Arg) c.65A>G (p.His22Arg) | gnomAD v4 |
6 | g.50818900A>T | CA450411583 | TFAP2B | c.9A>T (p.Ser3=) c.-25A>T (n.-25A>T) c.101A>T (p.His34Leu) c.65A>T (p.His22Leu) | |
6 | g.50818901C>A | CA364409690 | TFAP2B | c.10C>A (p.Pro4Thr) c.-24C>A (n.-24C>A) c.102C>A (p.His34Gln) c.66C>A (p.His22Gln) | |
6 | g.50818901C= | CA1628063479 | TFAP2B | c.10C= (p.Pro4=) c.-24C= (n.-24C=) c.102C= (p.His34=) c.66C= (p.His22=) | |
6 | g.50818901C>G | CA364409692 | TFAP2B | c.10C>G (p.Pro4Ala) c.-24C>G (n.-24C>G) c.102C>G (p.His34Gln) c.66C>G (p.His22Gln) | |
6 | g.50818901C>T | CA138859458 | TFAP2B | c.10C>T (p.Pro4Ser) c.-24C>T (n.-24C>T) c.102C>T (p.His34=) c.66C>T (p.His22=) | dbSNP gnomAD v4 |
6 | g.50818902C>A | CA364409702 | TFAP2B | c.11C>A (p.Pro4His) c.-23C>A (n.-23C>A) c.103C>A (p.Leu35Ile) c.67C>A (p.Leu23Ile) | |
6 | g.50818902C= | CA1628063480 | TFAP2B | c.11C= (p.Pro4=) c.-23C= (n.-23C=) c.103C= (p.Leu35=) c.67C= (p.Leu23=) | |
6 | g.50818902C>G | CA364409705 | TFAP2B | c.11C>G (p.Pro4Arg) c.-23C>G (n.-23C>G) c.103C>G (p.Leu35Val) c.67C>G (p.Leu23Val) | |
6 | g.50818902C>T | CA3850247 | TFAP2B | c.11C>T (p.Pro4Leu) c.-23C>T (n.-23C>T) c.103C>T (p.Leu35Phe) c.67C>T (p.Leu23Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.50818903del | CA2578644050 | TFAP2B | c.12del (p.Pro5LeufsTer?) c.-22del (n.-22del) c.12del (p.Pro5LeufsTer25) c.104del (p.Leu35ProfsTer2) c.68del (p.Leu23ProfsTer2) | |
6 | g.50818903T>A | CA450411584 | TFAP2B | c.12T>A (p.Pro4=) c.-22T>A (n.-22T>A) c.104T>A (p.Leu35His) c.68T>A (p.Leu23His) | |
6 | g.50818903T>C | CA450411585 | TFAP2B | c.12T>C (p.Pro4=) c.-22T>C (n.-22T>C) c.104T>C (p.Leu35Pro) c.68T>C (p.Leu23Pro) | |
6 | g.50818903T>G | CA450411586 | TFAP2B | c.12T>G (p.Pro4=) c.-22T>G (n.-22T>G) c.104T>G (p.Leu35Arg) c.68T>G (p.Leu23Arg) | |
6 | g.50818904C>A | CA364409714 | TFAP2B | c.13C>A (p.Pro5Thr) c.-21C>A (n.-21C>A) c.105C>A (p.Leu35=) c.69C>A (p.Leu23=) | |
6 | g.50818904C>G | CA364409717 | TFAP2B | c.13C>G (p.Pro5Ala) c.-21C>G (n.-21C>G) c.105C>G (p.Leu35=) c.69C>G (p.Leu23=) | |
6 | g.50818904C>T | CA364409720 | TFAP2B | c.13C>T (p.Pro5Ser) c.-21C>T (n.-21C>T) c.105C>T (p.Leu35=) c.69C>T (p.Leu23=) | |
6 | g.50818905C>A | CA364409731 | TFAP2B | c.14C>A (p.Pro5His) c.-20C>A (n.-20C>A) c.106C>A (p.Leu36Ile) c.70C>A (p.Leu24Ile) | |
6 | g.50818905C>G | CA364409728 | TFAP2B | c.14C>G (p.Pro5Arg) c.-20C>G (n.-20C>G) c.106C>G (p.Leu36Val) c.70C>G (p.Leu24Val) | gnomAD v4 |
6 | g.50818905C>T | CA364409724 | TFAP2B | c.14C>T (p.Pro5Leu) c.-20C>T (n.-20C>T) c.106C>T (p.Leu36=) c.70C>T (p.Leu24=) | gnomAD v4 |
6 | g.50818906T>A | CA450411589 | TFAP2B | c.15T>A (p.Pro5=) c.-19T>A (n.-19T>A) c.107T>A (p.Leu36Gln) c.71T>A (p.Leu24Gln) | |
6 | g.50818906T>C | CA450411588 | TFAP2B | c.15T>C (p.Pro5=) c.-19T>C (n.-19T>C) c.107T>C (p.Leu36Pro) c.71T>C (p.Leu24Pro) | gnomAD v4 |
6 | g.50818906T>G | CA450411587 | TFAP2B | c.15T>G (p.Pro5=) c.-19T>G (n.-19T>G) c.107T>G (p.Leu36Arg) c.71T>G (p.Leu24Arg) | |
6 | g.50818907A= | CA1628063482 | TFAP2B | c.16A= (p.Arg6=) c.-18A= (n.-18A=) c.108A= (p.Leu36=) c.72A= (p.Leu24=) | |
6 | g.50818907A>C | CA450411590 | TFAP2B | c.16A>C (p.Arg6=) c.-18A>C (n.-18A>C) c.108A>C (p.Leu36=) c.72A>C (p.Leu24=) | |
6 | g.50818907A>G | CA364409733 | TFAP2B | c.16A>G (p.Arg6Gly) c.-18A>G (n.-18A>G) c.108A>G (p.Leu36=) c.72A>G (p.Leu24=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.50818907A>T | CA364409736 | TFAP2B | c.16A>T (p.Arg6Ter) c.-18A>T (n.-18A>T) c.108A>T (p.Leu36=) c.72A>T (p.Leu24=) | |
6 | g.50818908G>A | CA364409738 | TFAP2B | c.17G>A (p.Arg6Lys) c.-17G>A (n.-17G>A) c.109G>A (p.Glu37Lys) c.73G>A (p.Glu25Lys) | |
6 | g.50818908G>C | CA364409741 | TFAP2B | c.17G>C (p.Arg6Thr) c.-17G>C (n.-17G>C) c.109G>C (p.Glu37Gln) c.73G>C (p.Glu25Gln) | |
6 | g.50818908G>T | CA364409744 | TFAP2B | c.17G>T (p.Arg6Ile) c.-17G>T (n.-17G>T) c.109G>T (p.Glu37Ter) c.73G>T (p.Glu25Ter) | |
6 | g.50818909A>C | CA364409750 | TFAP2B | c.18A>C (p.Arg6Ser) c.-16A>C (n.-16A>C) c.110A>C (p.Glu37Ala) c.74A>C (p.Glu25Ala) | |
6 | g.50818909A>G | CA450411591 | TFAP2B | c.18A>G (p.Arg6=) c.-16A>G (n.-16A>G) c.110A>G (p.Glu37Gly) c.74A>G (p.Glu25Gly) | |
6 | g.50818909A>T | CA364409753 | TFAP2B | c.18A>T (p.Arg6Ser) c.-16A>T (n.-16A>T) c.110A>T (p.Glu37Val) c.74A>T (p.Glu25Val) | |
6 | g.50818910G>A | CA364409758 | TFAP2B | c.19G>A (p.Asp7Asn) c.-15G>A (n.-15G>A) c.111G>A (p.Glu37=) c.75G>A (p.Glu25=) | |
6 | g.50818910G>C | CA364409761 | TFAP2B | c.19G>C (p.Asp7His) c.-15G>C (n.-15G>C) c.111G>C (p.Glu37Asp) c.75G>C (p.Glu25Asp) | dbSNP gnomAD v4 |
6 | g.50818910G>T | CA364409764 | TFAP2B | c.19G>T (p.Asp7Tyr) c.-15G>T (n.-15G>T) c.111G>T (p.Glu37Asp) c.75G>T (p.Glu25Asp) | |
6 | g.50818911A>C | CA364409768 | TFAP2B | c.20A>C (p.Asp7Ala) c.-14A>C (n.-14A>C) c.112A>C (p.Thr38Pro) c.76A>C (p.Thr26Pro) | |
6 | g.50818911A>G | CA364409770 | TFAP2B | c.20A>G (p.Asp7Gly) c.-14A>G (n.-14A>G) c.112A>G (p.Thr38Ala) c.76A>G (p.Thr26Ala) | |
6 | g.50818911A>T | CA364409776 | TFAP2B | c.20A>T (p.Asp7Val) c.-14A>T (n.-14A>T) c.112A>T (p.Thr38Ser) c.76A>T (p.Thr26Ser) | |
6 | g.50818912C>A | CA364409778 | TFAP2B | c.21C>A (p.Asp7Glu) c.-13C>A (n.-13C>A) c.113C>A (p.Thr38Asn) c.77C>A (p.Thr26Asn) | |
6 | g.50818912C>G | CA364409782 | TFAP2B | c.21C>G (p.Asp7Glu) c.-13C>G (n.-13C>G) c.113C>G (p.Thr38Ser) c.77C>G (p.Thr26Ser) | |
6 | g.50818912C>T | CA450411592 | TFAP2B | c.21C>T (p.Asp7=) c.-13C>T (n.-13C>T) c.113C>T (p.Thr38Ile) c.77C>T (p.Thr26Ile) | |
6 | g.50818913C>A | CA364409786 | TFAP2B | c.22C>A (p.Gln8Lys) c.-12C>A (n.-12C>A) c.114C>A (p.Thr38=) c.78C>A (p.Thr26=) | |
6 | g.50818913C>G | CA364409792 | TFAP2B | c.22C>G (p.Gln8Glu) c.-12C>G (n.-12C>G) c.114C>G (p.Thr38=) c.78C>G (p.Thr26=) | gnomAD v4 |
6 | g.50818913C>T | CA364409789 | TFAP2B | c.22C>T (p.Gln8Ter) c.-12C>T (n.-12C>T) c.114C>T (p.Thr38=) c.78C>T (p.Thr26=) | |
6 | g.50818914A>C | CA364409795 | TFAP2B | c.23A>C (p.Gln8Pro) c.-11A>C (n.-11A>C) c.115A>C (p.Arg39=) c.79A>C (p.Arg27=) | |
6 | g.50818914A>G | CA364409798 | TFAP2B | c.23A>G (p.Gln8Arg) c.-11A>G (n.-11A>G) c.115A>G (p.Arg39Gly) c.79A>G (p.Arg27Gly) | |
6 | g.50818914A>T | CA364409803 | TFAP2B | c.23A>T (p.Gln8Leu) c.-11A>T (n.-11A>T) c.115A>T (p.Arg39Trp) c.79A>T (p.Arg27Trp) | |
6 | g.50818915G>A | CA450411593 | TFAP2B | c.24G>A (p.Gln8=) c.-10G>A (n.-10G>A) c.116G>A (p.Arg39Lys) c.80G>A (p.Arg27Lys) | |
6 | g.50818915G>C | CA364409806 | TFAP2B | c.24G>C (p.Gln8His) c.-10G>C (n.-10G>C) c.116G>C (p.Arg39Thr) c.80G>C (p.Arg27Thr) | |
6 | g.50818915G>T | CA364409811 | TFAP2B | c.24G>T (p.Gln8His) c.-10G>T (n.-10G>T) c.116G>T (p.Arg39Met) c.80G>T (p.Arg27Met) | |
6 | g.50818916G>A | CA364409816 | TFAP2B | c.25G>A (p.Ala9Thr) c.-9G>A (n.-9G>A) c.117G>A (p.Arg39=) c.81G>A (p.Arg27=) | |
6 | g.50818916G>C | CA364409820 | TFAP2B | c.25G>C (p.Ala9Pro) c.-9G>C (n.-9G>C) c.117G>C (p.Arg39Ser) c.81G>C (p.Arg27Ser) | |
6 | g.50818916G>T | CA364409821 | TFAP2B | c.25G>T (p.Ala9Ser) c.-9G>T (n.-9G>T) c.117G>T (p.Arg39Ser) c.81G>T (p.Arg27Ser) | gnomAD v4 |
6 | g.50818917C>A | CA364409827 | TFAP2B | c.26C>A (p.Ala9Asp) c.-8C>A (n.-8C>A) c.118C>A (p.Leu40Met) c.82C>A (p.Leu28Met) | |
6 | g.50818917C>G | CA364409829 | TFAP2B | c.26C>G (p.Ala9Gly) c.-8C>G (n.-8C>G) c.118C>G (p.Leu40Val) c.82C>G (p.Leu28Val) | |
6 | g.50818917C>T | CA364409832 | TFAP2B | c.26C>T (p.Ala9Val) c.-8C>T (n.-8C>T) c.118C>T (p.Leu40=) c.82C>T (p.Leu28=) | gnomAD v4 |
6 | g.50818918T>A | CA450411596 | TFAP2B | c.27T>A (p.Ala9=) c.-7T>A (n.-7T>A) c.119T>A (p.Leu40Gln) c.83T>A (p.Leu28Gln) | |
6 | g.50818918T>C | CA450411594 | TFAP2B | c.27T>C (p.Ala9=) c.-7T>C (n.-7T>C) c.119T>C (p.Leu40Pro) c.83T>C (p.Leu28Pro) | COSMIC |
6 | g.50818918T>G | CA450411595 | TFAP2B | c.27T>G (p.Ala9=) c.-7T>G (n.-7T>G) c.119T>G (p.Leu40Arg) c.83T>G (p.Leu28Arg) | |
6 | g.50818919G>A | CA3850248 | TFAP2B | c.28G>A (p.Ala10Thr) c.-6G>A (n.-6G>A) c.120G>A (p.Leu40=) c.84G>A (p.Leu28=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.50818919G>C | CA364409837 | TFAP2B | c.28G>C (p.Ala10Pro) c.-6G>C (n.-6G>C) c.120G>C (p.Leu40=) c.84G>C (p.Leu28=) | |
6 | g.50818919G= | CA1628063483 | TFAP2B | c.28G= (p.Ala10=) c.-6G= (n.-6G=) c.120G= (p.Leu40=) c.84G= (p.Leu28=) | |
6 | g.50818919G>T | CA364409839 | TFAP2B | c.28G>T (p.Ala10Ser) c.-6G>T (n.-6G>T) c.120G>T (p.Leu40=) c.84G>T (p.Leu28=) | |
6 | g.50818920C>A | CA138859464 | TFAP2B | c.29C>A (p.Ala10Asp) c.-5C>A (n.-5C>A) c.121C>A (p.Pro41Thr) c.85C>A (p.Pro29Thr) | dbSNP gnomAD v4 |
6 | g.50818920C= | CA1628063484 | TFAP2B | c.29C= (p.Ala10=) c.-5C= (n.-5C=) c.121C= (p.Pro41=) c.85C= (p.Pro29=) | |
6 | g.50818920C>G | CA364409848 | TFAP2B | c.29C>G (p.Ala10Gly) c.-5C>G (n.-5C>G) c.121C>G (p.Pro41Ala) c.85C>G (p.Pro29Ala) | |
6 | g.50818920C>T | CA364409851 | TFAP2B | c.29C>T (p.Ala10Val) c.-5C>T (n.-5C>T) c.121C>T (p.Pro41Ser) c.85C>T (p.Pro29Ser) | gnomAD v4 |
6 | g.50818921C>A | CA450411597 | TFAP2B | c.30C>A (p.Ala10=) c.-4C>A (n.-4C>A) c.122C>A (p.Pro41Gln) c.86C>A (p.Pro29Gln) | |
6 | g.50818921C>G | CA450411598 | TFAP2B | c.30C>G (p.Ala10=) c.-4C>G (n.-4C>G) c.122C>G (p.Pro41Arg) c.86C>G (p.Pro29Arg) | |
6 | g.50818921C>T | CA450411599 | TFAP2B | c.30C>T (p.Ala10=) c.-4C>T (n.-4C>T) c.122C>T (p.Pro41Leu) c.86C>T (p.Pro29Leu) | gnomAD v4 |
6 | g.50818924_50818926del | CA2578644051 | TFAP2B | c.33_35del (p.Ile11del) c.-1_2del (n.-1_2del) c.125_127del (p.Ser42del) c.89_91del (p.Ser30del) | |
6 | g.50818922A= | CA1628063488 | TFAP2B | c.31A= (p.Ile11=) c.-3A= (n.-3A=) c.123A= (p.Pro41=) c.87A= (p.Pro29=) | |
6 | g.50818922A>C | CA364409856 | TFAP2B | c.31A>C (p.Ile11Leu) c.-3A>C (n.-3A>C) c.123A>C (p.Pro41=) c.87A>C (p.Pro29=) | |
6 | g.50818922A>G | CA364409859 | TFAP2B | c.31A>G (p.Ile11Val) c.-3A>G (n.-3A>G) c.123A>G (p.Pro41=) c.87A>G (p.Pro29=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.50818922A>T | CA364409861 | TFAP2B | c.31A>T (p.Ile11Phe) c.-3A>T (n.-3A>T) c.123A>T (p.Pro41=) c.87A>T (p.Pro29=) | |
6 | g.50818923T>A | CA364409867 | TFAP2B | c.32T>A (p.Ile11Asn) c.-2T>A (n.-2T>A) c.124T>A (p.Ser42Thr) c.88T>A (p.Ser30Thr) | |
6 | g.50818923T>C | CA364409869 | TFAP2B | c.32T>C (p.Ile11Thr) c.-2T>C (n.-2T>C) c.124T>C (p.Ser42Pro) c.88T>C (p.Ser30Pro) | gnomAD v4 |
6 | g.50818923T>G | CA364409872 | TFAP2B | c.32T>G (p.Ile11Ser) c.-2T>G (n.-2T>G) c.124T>G (p.Ser42Ala) c.88T>G (p.Ser30Ala) | |
6 | g.50818924C>A | CA450411600 | TFAP2B | c.33C>A (p.Ile11=) c.-1C>A (n.-1C>A) c.125C>A (p.Ser42Ter) c.89C>A (p.Ser30Ter) | dbSNP |
6 | g.50818924C>G | CA364409876 | TFAP2B | c.33C>G (p.Ile11Met) c.-1C>G (n.-1C>G) c.125C>G (p.Ser42Ter) c.89C>G (p.Ser30Ter) | |
6 | g.50818924C>T | CA450411601 | TFAP2B | c.33C>T (p.Ile11=) c.-1C>T (n.-1C>T) c.125C>T (p.Ser42Leu) c.89C>T (p.Ser30Leu) | |
6 | g.50818925A= | CA1628063489 | TFAP2B | c.34A= (p.Met12=) c.1A= (p.Met1=) c.126A= (p.Ser42=) c.90A= (p.Ser30=) | |
6 | g.50818925A>C | CA364409883 | TFAP2B | c.34A>C (p.Met12Leu) c.1A>C (p.Met1Leu) c.126A>C (p.Ser42=) c.90A>C (p.Ser30=) | |
6 | g.50818925A>G | CA364409887 | TFAP2B | c.34A>G (p.Met12Val) c.1A>G (p.Met1Val) c.126A>G (p.Ser42=) c.90A>G (p.Ser30=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.50818925A>T | CA364409881 | TFAP2B | c.34A>T (p.Met12Leu) c.1A>T (p.Met1Leu) c.126A>T (p.Ser42=) c.90A>T (p.Ser30=) | |
6 | g.50818926T>A | CA364409890 | TFAP2B | c.35T>A (p.Met12Lys) c.2T>A (p.Met1Lys) c.127T>A (p.Cys43Ser) c.91T>A (p.Cys31Ser) | dbSNP |
6 | g.50818926T>C | CA364409894 | TFAP2B | c.35T>C (p.Met12Thr) c.2T>C (p.Met1Thr) c.127T>C (p.Cys43Arg) c.91T>C (p.Cys31Arg) | |
6 | g.50818926T>G | CA364409896 | TFAP2B | c.35T>G (p.Met12Arg) c.2T>G (p.Met1Arg) c.127T>G (p.Cys43Gly) c.91T>G (p.Cys31Gly) | |
6 | g.50818926T= | CA1628063493 | TFAP2B | c.35T= (p.Met12=) c.2T= (p.Met1=) c.127T= (p.Cys43=) c.91T= (p.Cys31=) | |
6 | g.50818927G>A | CA364409899 | TFAP2B | c.36G>A (p.Met12Ile) c.3G>A (p.Met1Ile) c.128G>A (p.Cys43Tyr) c.92G>A (p.Cys31Tyr) | |
6 | g.50818927G>C | CA364409902 | TFAP2B | c.36G>C (p.Met12Ile) c.3G>C (p.Met1Ile) c.128G>C (p.Cys43Ser) c.92G>C (p.Cys31Ser) | |
6 | g.50818927G>T | CA364409906 | TFAP2B | c.36G>T (p.Met12Ile) c.3G>T (p.Met1Ile) c.128G>T (p.Cys43Phe) c.92G>T (p.Cys31Phe) | |
6 | g.50818928C>A | CA364409911 | TFAP2B | c.37C>A (p.Leu13Ile) c.4C>A (p.Leu2Ile) c.129C>A (p.Cys43Ter) c.93C>A (p.Cys31Ter) | |
6 | g.50818928C>G | CA364409912 | TFAP2B | c.37C>G (p.Leu13Val) c.4C>G (p.Leu2Val) c.129C>G (p.Cys43Trp) c.93C>G (p.Cys31Trp) | |
6 | g.50818928C>T | CA364409913 | TFAP2B | c.37C>T (p.Leu13Phe) c.4C>T (p.Leu2Phe) c.129C>T (p.Cys43=) c.93C>T (p.Cys31=) | |
6 | g.50818929T>A | CA364409916 | TFAP2B | c.38T>A (p.Leu13His) c.5T>A (p.Leu2His) c.130T>A (p.Ser44Thr) c.94T>A (p.Ser32Thr) | |
6 | g.50818929T>C | CA364409919 | TFAP2B | c.38T>C (p.Leu13Pro) c.5T>C (p.Leu2Pro) c.130T>C (p.Ser44Pro) c.94T>C (p.Ser32Pro) | gnomAD v4 |
6 | g.50818929T>G | CA364409922 | TFAP2B | c.38T>G (p.Leu13Arg) c.5T>G (p.Leu2Arg) c.130T>G (p.Ser44Ala) c.94T>G (p.Ser32Ala) | |
6 | g.50818930C>A | CA450411602 | TFAP2B | c.39C>A (p.Leu13=) c.6C>A (p.Leu2=) c.131C>A (p.Ser44Tyr) c.95C>A (p.Ser32Tyr) | |
6 | g.50818930C>G | CA450411603 | TFAP2B | c.39C>G (p.Leu13=) c.6C>G (p.Leu2=) c.131C>G (p.Ser44Cys) c.95C>G (p.Ser32Cys) | |
6 | g.50818930C>T | CA450411604 | TFAP2B | c.39C>T (p.Leu13=) c.6C>T (p.Leu2=) c.131C>T (p.Ser44Phe) c.95C>T (p.Ser32Phe) | gnomAD v4 |
6 | g.50818931T>A | CA364409927 | TFAP2B | c.40T>A (p.Trp14Arg) c.7T>A (p.Trp3Arg) c.132T>A (p.Ser44=) c.96T>A (p.Ser32=) | gnomAD v4 COSMIC |
6 | g.50818931T>C | CA364409930 | TFAP2B | c.40T>C (p.Trp14Arg) c.7T>C (p.Trp3Arg) c.132T>C (p.Ser44=) c.96T>C (p.Ser32=) | |
6 | g.50818931T>G | CA364409924 | TFAP2B | c.40T>G (p.Trp14Gly) c.7T>G (p.Trp3Gly) c.132T>G (p.Ser44=) c.96T>G (p.Ser32=) | |
6 | g.50818932G>A | CA364409935 | TFAP2B | c.41G>A (p.Trp14Ter) c.8G>A (p.Trp3Ter) c.133G>A (p.Gly45Arg) c.97G>A (p.Gly33Arg) | gnomAD v4 |
6 | g.50818932G>C | CA364409938 | TFAP2B | c.41G>C (p.Trp14Ser) c.8G>C (p.Trp3Ser) c.133G>C (p.Gly45Arg) c.97G>C (p.Gly33Arg) | |
6 | g.50818932G>T | CA364409939 | TFAP2B | c.41G>T (p.Trp14Leu) c.8G>T (p.Trp3Leu) c.133G>T (p.Gly45Ter) c.97G>T (p.Gly33Ter) | |
6 | g.50818933G>A | CA364409943 | TFAP2B | c.42G>A (p.Trp14Ter) c.9G>A (p.Trp3Ter) c.134G>A (p.Gly45Glu) c.98G>A (p.Gly33Glu) | |
6 | g.50818933G>C | CA364409946 | TFAP2B | c.42G>C (p.Trp14Cys) c.9G>C (p.Trp3Cys) c.134G>C (p.Gly45Ala) c.98G>C (p.Gly33Ala) | |
6 | g.50818933G>T | CA364409949 | TFAP2B | c.42G>T (p.Trp14Cys) c.9G>T (p.Trp3Cys) c.134G>T (p.Gly45Val) c.98G>T (p.Gly33Val) | gnomAD v4 |
6 | g.50818934A>C | CA364409954 | TFAP2B | c.43A>C (p.Lys15Gln) c.10A>C (p.Lys4Gln) c.135A>C (p.Gly45=) c.99A>C (p.Gly33=) | |
6 | g.50818934A>G | CA364409960 | TFAP2B | c.43A>G (p.Lys15Glu) c.10A>G (p.Lys4Glu) c.135A>G (p.Gly45=) c.99A>G (p.Gly33=) | |
6 | g.50818934A>T | CA364409957 | TFAP2B | c.43A>T (p.Lys15Ter) c.10A>T (p.Lys4Ter) c.135A>T (p.Gly45=) c.99A>T (p.Gly33=) | |
6 | g.50818935A>C | CA364409963 | TFAP2B | c.44A>C (p.Lys15Thr) c.11A>C (p.Lys4Thr) c.136A>C (p.Ser46Arg) c.100A>C (p.Ser34Arg) | |
6 | g.50818935A>G | CA364409967 | TFAP2B | c.44A>G (p.Lys15Arg) c.11A>G (p.Lys4Arg) c.136A>G (p.Ser46Gly) c.100A>G (p.Ser34Gly) | |
6 | g.50818935A>T | CA364409969 | TFAP2B | c.44A>T (p.Lys15Met) c.11A>T (p.Lys4Met) c.136A>T (p.Ser46Cys) c.100A>T (p.Ser34Cys) | |
6 | g.50818936G>A | CA450411606 | TFAP2B | c.45G>A (p.Lys15=) c.12G>A (p.Lys4=) c.137G>A (p.Ser46Asn) c.101G>A (p.Ser34Asn) | |
6 | g.50818936G>C | CA364409973 | TFAP2B | c.45G>C (p.Lys15Asn) c.12G>C (p.Lys4Asn) c.137G>C (p.Ser46Thr) c.101G>C (p.Ser34Thr) | |
6 | g.50818936G>T | CA364409976 | TFAP2B | c.45G>T (p.Lys15Asn) c.12G>T (p.Lys4Asn) c.137G>T (p.Ser46Ile) c.101G>T (p.Ser34Ile) | |
6 | g.50818937C>A | CA364409985 | TFAP2B | c.46C>A (p.Leu16Ile) c.13C>A (p.Leu5Ile) c.138C>A (p.Ser46Arg) c.102C>A (p.Ser34Arg) | |
6 | g.50818937C>G | CA364409988 | TFAP2B | c.46C>G (p.Leu16Val) c.13C>G (p.Leu5Val) c.138C>G (p.Ser46Arg) c.102C>G (p.Ser34Arg) | |
6 | g.50818937C>T | CA364409981 | TFAP2B | c.46C>T (p.Leu16Phe) c.13C>T (p.Leu5Phe) c.138C>T (p.Ser46=) c.102C>T (p.Ser34=) | |
6 | g.50818938T>A | CA364409998 | TFAP2B | c.47T>A (p.Leu16His) c.14T>A (p.Leu5His) c.139T>A (p.Leu47Met) c.103T>A (p.Leu35Met) | |
6 | g.50818938T>C | CA364409994 | TFAP2B | c.47T>C (p.Leu16Pro) c.14T>C (p.Leu5Pro) c.139T>C (p.Leu47=) c.103T>C (p.Leu35=) | |
6 | g.50818938T>G | CA364410002 | TFAP2B | c.47T>G (p.Leu16Arg) c.14T>G (p.Leu5Arg) c.139T>G (p.Leu47Val) c.103T>G (p.Leu35Val) | |
6 | g.50818939T>A | CA450411607 | TFAP2B | c.48T>A (p.Leu16=) c.15T>A (p.Leu5=) c.140T>A (p.Leu47Ter) c.104T>A (p.Leu35Ter) | |
6 | g.50818939T>C | CA450411608 | TFAP2B | c.48T>C (p.Leu16=) c.15T>C (p.Leu5=) c.140T>C (p.Leu47Ser) c.104T>C (p.Leu35Ser) | dbSNP |
6 | g.50818939T>G | CA3850249 | TFAP2B | c.48T>G (p.Leu16=) c.15T>G (p.Leu5=) c.140T>G (p.Leu47Trp) c.104T>G (p.Leu35Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.50818939T= | CA1628063496 | TFAP2B | c.48T= (p.Leu16=) c.15T= (p.Leu5=) c.140T= (p.Leu47=) c.104T= (p.Leu35=) | |
6 | g.50818940G>A | CA364410010 | TFAP2B | c.49G>A (p.Val17Met) c.16G>A (p.Val6Met) c.141G>A (p.Leu47=) c.105G>A (p.Leu35=) | |
6 | g.50818940G>C | CA364410014 | TFAP2B | c.49G>C (p.Val17Leu) c.16G>C (p.Val6Leu) c.141G>C (p.Leu47Phe) c.105G>C (p.Leu35Phe) | |
6 | g.50818940G>T | CA364410018 | TFAP2B | c.49G>T (p.Val17Leu) c.16G>T (p.Val6Leu) c.141G>T (p.Leu47Phe) c.105G>T (p.Leu35Phe) | |
6 | g.50818941T>A | CA364410022 | TFAP2B | c.50T>A (p.Val17Glu) c.17T>A (p.Val6Glu) c.142T>A (p.Trp48Arg) c.106T>A (p.Trp36Arg) | |
6 | g.50818941T>C | CA364410024 | TFAP2B | c.50T>C (p.Val17Ala) c.17T>C (p.Val6Ala) c.142T>C (p.Trp48Arg) c.106T>C (p.Trp36Arg) | |
6 | g.50818941T>G | CA364410027 | TFAP2B | c.50T>G (p.Val17Gly) c.17T>G (p.Val6Gly) c.142T>G (p.Trp48Gly) c.106T>G (p.Trp36Gly) | |
6 | g.50818942G>A | CA138859468 | TFAP2B | c.51G>A (p.Val17=) c.18G>A (p.Val6=) c.143G>A (p.Trp48Ter) c.107G>A (p.Trp36Ter) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.50818942G>C | CA450411611 | TFAP2B | c.51G>C (p.Val17=) c.18G>C (p.Val6=) c.143G>C (p.Trp48Ser) c.107G>C (p.Trp36Ser) | |
6 | g.50818942G= | CA1628063497 | TFAP2B | c.51G= (p.Val17=) c.18G= (p.Val6=) c.143G= (p.Trp48=) c.107G= (p.Trp36=) | |
6 | g.50818942G>T | CA450411612 | TFAP2B | c.51G>T (p.Val17=) c.18G>T (p.Val6=) c.143G>T (p.Trp48Leu) c.107G>T (p.Trp36Leu) | |
6 | g.50818943G>A | CA364410031 | TFAP2B | c.52G>A (p.Glu18Lys) c.19G>A (p.Glu7Lys) c.144G>A (p.Trp48Ter) c.108G>A (p.Trp36Ter) | |
6 | g.50818943G>C | CA364410034 | TFAP2B | c.52G>C (p.Glu18Gln) c.19G>C (p.Glu7Gln) c.144G>C (p.Trp48Cys) c.108G>C (p.Trp36Cys) | |
6 | g.50818943G>T | CA364410037 | TFAP2B | c.52G>T (p.Glu18Ter) c.19G>T (p.Glu7Ter) c.144G>T (p.Trp48Cys) c.108G>T (p.Trp36Cys) | |
6 | g.50818944A>C | CA364410039 | TFAP2B | c.53A>C (p.Glu18Ala) c.20A>C (p.Glu7Ala) c.145A>C (p.Arg49=) c.109A>C (p.Arg37=) | |
6 | g.50818944A>G | CA364410043 | TFAP2B | c.53A>G (p.Glu18Gly) c.20A>G (p.Glu7Gly) c.145A>G (p.Arg49Gly) c.109A>G (p.Arg37Gly) | |
6 | g.50818944A>T | CA364410047 | TFAP2B | c.53A>T (p.Glu18Val) c.20A>T (p.Glu7Val) c.145A>T (p.Arg49Ter) c.109A>T (p.Arg37Ter) | |
6 | g.50818945G>A | CA450411614 | TFAP2B | c.54G>A (p.Glu18=) c.21G>A (p.Glu7=) c.146G>A (p.Arg49Lys) c.110G>A (p.Arg37Lys) | |
6 | g.50818945G>C | CA364410052 | TFAP2B | c.54G>C (p.Glu18Asp) c.21G>C (p.Glu7Asp) c.146G>C (p.Arg49Thr) c.110G>C (p.Arg37Thr) | |
6 | g.50818945G>T | CA364410054 | TFAP2B | c.54G>T (p.Glu18Asp) c.21G>T (p.Glu7Asp) c.146G>T (p.Arg49Ile) c.110G>T (p.Arg37Ile) | COSMIC |
6 | g.50818946A>C | CA364410059 | TFAP2B | c.55A>C (p.Asn19His) c.22A>C (p.Asn8His) c.147A>C (p.Arg49Ser) c.111A>C (p.Arg37Ser) | |
6 | g.50818946A>G | CA364410062 | TFAP2B | c.55A>G (p.Asn19Asp) c.22A>G (p.Asn8Asp) c.147A>G (p.Arg49=) c.111A>G (p.Arg37=) | |
6 | g.50818946A>T | CA364410063 | TFAP2B | c.55A>T (p.Asn19Tyr) c.22A>T (p.Asn8Tyr) c.147A>T (p.Arg49Ser) c.111A>T (p.Arg37Ser) | |
6 | g.50818947A>C | CA364410064 | TFAP2B | c.56A>C (p.Asn19Thr) c.23A>C (p.Asn8Thr) c.148A>C (p.Met50Leu) c.112A>C (p.Met38Leu) | |
6 | g.50818947A>G | CA364410065 | TFAP2B | c.56A>G (p.Asn19Ser) c.23A>G (p.Asn8Ser) c.148A>G (p.Met50Val) c.112A>G (p.Met38Val) | |
6 | g.50818947A>T | CA364410068 | TFAP2B | c.56A>T (p.Asn19Ile) c.23A>T (p.Asn8Ile) c.148A>T (p.Met50Leu) c.112A>T (p.Met38Leu) | |
6 | g.50818948T>A | CA364410070 | TFAP2B | c.57T>A (p.Asn19Lys) c.24T>A (p.Asn8Lys) c.149T>A (p.Met50Lys) c.113T>A (p.Met38Lys) | |
6 | g.50818948T>C | CA450411617 | TFAP2B | c.57T>C (p.Asn19=) c.24T>C (p.Asn8=) c.149T>C (p.Met50Thr) c.113T>C (p.Met38Thr) | gnomAD v4 |
6 | g.50818948T>G | CA364410073 | TFAP2B | c.57T>G (p.Asn19Lys) c.24T>G (p.Asn8Lys) c.149T>G (p.Met50Arg) c.113T>G (p.Met38Arg) | |
6 | g.50818949G>A | CA364410077 | TFAP2B | c.58G>A (p.Val20Ile) c.25G>A (p.Val9Ile) c.150G>A (p.Met50Ile) c.114G>A (p.Met38Ile) | gnomAD v4 |
6 | g.50818949G>C | CA364410079 | TFAP2B | c.58G>C (p.Val20Leu) c.25G>C (p.Val9Leu) c.150G>C (p.Met50Ile) c.114G>C (p.Met38Ile) | |
6 | g.50818949G>T | CA364410085 | TFAP2B | c.58G>T (p.Val20Phe) c.25G>T (p.Val9Phe) c.150G>T (p.Met50Ile) c.114G>T (p.Met38Ile) | |
6 | g.50818950T>A | CA3850250 | TFAP2B | c.59T>A (p.Val20Asp) c.26T>A (p.Val9Asp) c.151T>A (p.Ser51Thr) c.115T>A (p.Ser39Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.50818950T>C | CA364410096 | TFAP2B | c.59T>C (p.Val20Ala) c.26T>C (p.Val9Ala) c.151T>C (p.Ser51Pro) c.115T>C (p.Ser39Pro) | |
6 | g.50818950T>G | CA364410091 | TFAP2B | c.59T>G (p.Val20Gly) c.26T>G (p.Val9Gly) c.151T>G (p.Ser51Ala) c.115T>G (p.Ser39Ala) | |
6 | g.50818950T= | CA1628063499 | TFAP2B | c.59T= (p.Val20=) c.26T= (p.Val9=) c.151T= (p.Ser51=) c.115T= (p.Ser39=) | |
6 | g.50818951C>A | CA450411624 | TFAP2B | c.60C>A (p.Val20=) c.27C>A (p.Val9=) c.152C>A (p.Ser51Ter) c.116C>A (p.Ser39Ter) | |
6 | g.50818951C>G | CA450411625 | TFAP2B | c.60C>G (p.Val20=) c.27C>G (p.Val9=) c.152C>G (p.Ser51Ter) c.116C>G (p.Ser39Ter) | dbSNP |
6 | g.50818951C>T | CA450411626 | TFAP2B | c.60C>T (p.Val20=) c.27C>T (p.Val9=) c.152C>T (p.Ser51Leu) c.116C>T (p.Ser39Leu) | |
6 | g.50818952A>C | CA364410099 | TFAP2B | c.61A>C (p.Lys21Gln) c.28A>C (p.Lys10Gln) c.153A>C (p.Ser51=) c.117A>C (p.Ser39=) | |
6 | g.50818952A>G | CA364410103 | TFAP2B | c.61A>G (p.Lys21Glu) c.28A>G (p.Lys10Glu) c.153A>G (p.Ser51=) c.117A>G (p.Ser39=) | |
6 | g.50818952A>T | CA364410106 | TFAP2B | c.61A>T (p.Lys21Ter) c.28A>T (p.Lys10Ter) c.153A>T (p.Ser51=) c.117A>T (p.Ser39=) | |
6 | g.50818953A>C | CA364410112 | TFAP2B | c.62A>C (p.Lys21Thr) c.29A>C (p.Lys10Thr) c.154A>C (p.Ser52Arg) c.118A>C (p.Ser40Arg) | |
6 | g.50818953A>G | CA364410115 | TFAP2B | c.62A>G (p.Lys21Arg) c.29A>G (p.Lys10Arg) c.154A>G (p.Ser52Gly) c.118A>G (p.Ser40Gly) | |
6 | g.50818953A>T | CA364410120 | TFAP2B | c.62A>T (p.Lys21Met) c.29A>T (p.Lys10Met) c.154A>T (p.Ser52Cys) c.118A>T (p.Ser40Cys) | |
6 | g.50818954G>A | CA450411627 | TFAP2B | c.63G>A (p.Lys21=) c.30G>A (p.Lys10=) c.155G>A (p.Ser52Asn) c.119G>A (p.Ser40Asn) | |
6 | g.50818954G>C | CA364410126 | TFAP2B | c.63G>C (p.Lys21Asn) c.30G>C (p.Lys10Asn) c.155G>C (p.Ser52Thr) c.119G>C (p.Ser40Thr) | |
6 | g.50818954G>T | CA364410128 | TFAP2B | c.63G>T (p.Lys21Asn) c.30G>T (p.Lys10Asn) c.155G>T (p.Ser52Ile) c.119G>T (p.Ser40Ile) | |
6 | g.50818955T>A | CA364410132 | TFAP2B | c.64T>A (p.Tyr22Asn) c.31T>A (p.Tyr11Asn) c.156T>A (p.Ser52Arg) c.120T>A (p.Ser40Arg) | |
6 | g.50818955T>C | CA364410134 | TFAP2B | c.64T>C (p.Tyr22His) c.31T>C (p.Tyr11His) c.156T>C (p.Ser52=) c.120T>C (p.Ser40=) | |
6 | g.50818955T>G | CA364410138 | TFAP2B | c.64T>G (p.Tyr22Asp) c.31T>G (p.Tyr11Asp) c.156T>G (p.Ser52Arg) c.120T>G (p.Ser40Arg) | |
6 | g.50818956A>C | CA364410143 | TFAP2B | c.65A>C (p.Tyr22Ser) c.32A>C (p.Tyr11Ser) c.157A>C (p.Thr53Pro) c.121A>C (p.Thr41Pro) | |
6 | g.50818956A>G | CA364410147 | TFAP2B | c.65A>G (p.Tyr22Cys) c.32A>G (p.Tyr11Cys) c.157A>G (p.Thr53Ala) c.121A>G (p.Thr41Ala) | |
6 | g.50818956A>T | CA364410149 | TFAP2B | c.65A>T (p.Tyr22Phe) c.32A>T (p.Tyr11Phe) c.157A>T (p.Thr53Ser) c.121A>T (p.Thr41Ser) | |
6 | g.50818957C>A | CA364410152 | TFAP2B | c.66C>A (p.Tyr22Ter) c.33C>A (p.Tyr11Ter) c.158C>A (p.Thr53Lys) c.122C>A (p.Thr41Lys) | |
6 | g.50818957C= | CA1628063501 | TFAP2B | c.66C= (p.Tyr22=) c.33C= (p.Tyr11=) c.158C= (p.Thr53=) c.122C= (p.Thr41=) | |
6 | g.50818957C>G | CA364410155 | TFAP2B | c.66C>G (p.Tyr22Ter) c.33C>G (p.Tyr11Ter) c.158C>G (p.Thr53Arg) c.122C>G (p.Thr41Arg) | ClinVar |
6 | g.50818957C>T | CA450411628 | TFAP2B | c.66C>T (p.Tyr22=) c.33C>T (p.Tyr11=) c.158C>T (p.Thr53Met) c.122C>T (p.Thr41Met) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.50818958G>A | CA364410160 | TFAP2B | c.67G>A (p.Glu23Lys) c.34G>A (p.Glu12Lys) c.159G>A (p.Thr53=) c.123G>A (p.Thr41=) | dbSNP |
6 | g.50818958G>C | CA364410164 | TFAP2B | c.67G>C (p.Glu23Gln) c.34G>C (p.Glu12Gln) c.159G>C (p.Thr53=) c.123G>C (p.Thr41=) | COSMIC |
6 | g.50818958G= | CA1628063502 | TFAP2B | c.67G= (p.Glu23=) c.34G= (p.Glu12=) c.159G= (p.Thr53=) c.123G= (p.Thr41=) | |
6 | g.50818958G>T | CA364410170 | TFAP2B | c.67G>T (p.Glu23Ter) c.34G>T (p.Glu12Ter) c.159G>T (p.Thr53=) c.123G>T (p.Thr41=) | |
6 | g.50818959A>C | CA364410173 | TFAP2B | c.68A>C (p.Glu23Ala) c.35A>C (p.Glu12Ala) c.160A>C (p.Lys54Gln) c.124A>C (p.Lys42Gln) | |
6 | g.50818959A>G | CA364410176 | TFAP2B | c.68A>G (p.Glu23Gly) c.35A>G (p.Glu12Gly) c.160A>G (p.Lys54Glu) c.124A>G (p.Lys42Glu) | COSMIC |
6 | g.50818959A>T | CA364410180 | TFAP2B | c.68A>T (p.Glu23Val) c.35A>T (p.Glu12Val) c.160A>T (p.Lys54Ter) c.124A>T (p.Lys42Ter) | |
6 | g.50818960A>C | CA364410186 | TFAP2B | c.69A>C (p.Glu23Asp) c.36A>C (p.Glu12Asp) c.161A>C (p.Lys54Thr) c.125A>C (p.Lys42Thr) | |
6 | g.50818960A>G | CA450411630 | TFAP2B | c.69A>G (p.Glu23=) c.36A>G (p.Glu12=) c.161A>G (p.Lys54Arg) c.125A>G (p.Lys42Arg) | |
6 | g.50818960A>T | CA364410190 | TFAP2B | c.69A>T (p.Glu23Asp) c.36A>T (p.Glu12Asp) c.161A>T (p.Lys54Met) c.125A>T (p.Lys42Met) | |
6 | g.50818961G>A | CA364410194 | TFAP2B | c.70G>A (p.Asp24Asn) c.37G>A (p.Asp13Asn) c.162G>A (p.Lys54=) c.126G>A (p.Lys42=) | |
6 | g.50818961G>C | CA364410197 | TFAP2B | c.70G>C (p.Asp24His) c.37G>C (p.Asp13His) c.162G>C (p.Lys54Asn) c.126G>C (p.Lys42Asn) | |
6 | g.50818961G>T | CA364410200 | TFAP2B | c.70G>T (p.Asp24Tyr) c.37G>T (p.Asp13Tyr) c.162G>T (p.Lys54Asn) c.126G>T (p.Lys42Asn) | |
6 | g.50818962A>C | CA364410205 | TFAP2B | c.71A>C (p.Asp24Ala) c.38A>C (p.Asp13Ala) c.163A>C (p.Ile55Leu) c.127A>C (p.Ile43Leu) | |
6 | g.50818962A>G | CA364410207 | TFAP2B | c.71A>G (p.Asp24Gly) c.38A>G (p.Asp13Gly) c.163A>G (p.Ile55Val) c.127A>G (p.Ile43Val) | |
6 | g.50818962A>T | CA364410212 | TFAP2B | c.71A>T (p.Asp24Val) c.38A>T (p.Asp13Val) c.163A>T (p.Ile55Leu) c.127A>T (p.Ile43Leu) | |
6 | g.50818963T>A | CA364410217 | TFAP2B | c.72T>A (p.Asp24Glu) c.39T>A (p.Asp13Glu) c.164T>A (p.Ile55Lys) c.128T>A (p.Ile43Lys) | |
6 | g.50818963T>C | CA450411631 | TFAP2B | c.72T>C (p.Asp24=) c.39T>C (p.Asp13=) c.164T>C (p.Ile55Thr) c.128T>C (p.Ile43Thr) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.50818963T>G | CA364410220 | TFAP2B | c.72T>G (p.Asp24Glu) c.39T>G (p.Asp13Glu) c.164T>G (p.Ile55Arg) c.128T>G (p.Ile43Arg) | dbSNP gnomAD v4 |
6 | g.50818963T= | CA1628063505 | TFAP2B | c.72T= (p.Asp24=) c.39T= (p.Asp13=) c.164T= (p.Ile55=) c.128T= (p.Ile43=) | |
6 | g.50818963_50818966delinsTATC | CA1628063504 | TFAP2B | c.72_75delinsTATC (p.Asp24=) c.39_42delinsTATC (p.Asp13=) c.164_167delinsTATC (p.Ile55=) c.128_131delinsTATC (p.Ile43=) | |
6 | g.50818964A>C | CA364410225 | TFAP2B | c.73A>C (p.Ile25Leu) c.40A>C (p.Ile14Leu) c.165A>C (p.Ile55=) c.129A>C (p.Ile43=) | |
6 | g.50818964A>G | CA364410229 | TFAP2B | c.73A>G (p.Ile25Val) c.40A>G (p.Ile14Val) c.165A>G (p.Ile55Met) c.129A>G (p.Ile43Met) | |
6 | g.50818964A>T | CA364410231 | TFAP2B | c.73A>T (p.Ile25Phe) c.40A>T (p.Ile14Phe) c.165A>T (p.Ile55=) c.129A>T (p.Ile43=) | |
6 | g.50818964_50818966del | CA3850251 | TFAP2B | c.73_75del (p.Ile25del) c.40_42del (p.Ile14del) c.165_167del (p.Ser56del) c.129_131del (p.Ser44del) | dbSNP ExAC gnomAD v4 |
6 | g.50818965T>A | CA364410232 | TFAP2B | c.74T>A (p.Ile25Asn) c.41T>A (p.Ile14Asn) c.166T>A (p.Ser56Thr) c.130T>A (p.Ser44Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.50818965T>C | CA364410234 | TFAP2B | c.74T>C (p.Ile25Thr) c.41T>C (p.Ile14Thr) c.166T>C (p.Ser56Pro) c.130T>C (p.Ser44Pro) | gnomAD v4 |
6 | g.50818965T>G | CA364410236 | TFAP2B | c.74T>G (p.Ile25Ser) c.41T>G (p.Ile14Ser) c.166T>G (p.Ser56Ala) c.130T>G (p.Ser44Ala) | |
6 | g.50818965T= | CA1628063506 | TFAP2B | c.74T= (p.Ile25=) c.41T= (p.Ile14=) c.166T= (p.Ser56=) c.130T= (p.Ser44=) | |
6 | g.50818966C>A | CA450411632 | TFAP2B | c.75C>A (p.Ile25=) c.42C>A (p.Ile14=) c.167C>A (p.Ser56Tyr) c.131C>A (p.Ser44Tyr) | |
6 | g.50818966C= | CA1628063507 | TFAP2B | c.75C= (p.Ile25=) c.42C= (p.Ile14=) c.167C= (p.Ser56=) c.131C= (p.Ser44=) | |
6 | g.50818966C>G | CA138859472 | TFAP2B | c.75C>G (p.Ile25Met) c.42C>G (p.Ile14Met) c.167C>G (p.Ser56Cys) c.131C>G (p.Ser44Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.50818966C>T | CA138859473 | TFAP2B | c.75C>T (p.Ile25=) c.42C>T (p.Ile14=) c.167C>T (p.Ser56Phe) c.131C>T (p.Ser44Phe) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.50818967T>A | CA364410242 | TFAP2B | c.76T>A (p.Tyr26Asn) c.43T>A (p.Tyr15Asn) c.168T>A (p.Ser56=) c.132T>A (p.Ser44=) | |
6 | g.50818967T>C | CA364410244 | TFAP2B | c.76T>C (p.Tyr26His) c.43T>C (p.Tyr15His) c.168T>C (p.Ser56=) c.132T>C (p.Ser44=) | |
6 | g.50818967T>G | CA364410247 | TFAP2B | c.76T>G (p.Tyr26Asp) c.43T>G (p.Tyr15Asp) c.168T>G (p.Ser56=) c.132T>G (p.Ser44=) | |
6 | g.50818968A>C | CA364410248 | TFAP2B | c.77A>C (p.Tyr26Ser) c.44A>C (p.Tyr15Ser) c.169A>C (p.Met57Leu) c.133A>C (p.Met45Leu) | |
6 | g.50818968A>G | CA364410249 | TFAP2B | c.77A>G (p.Tyr26Cys) c.44A>G (p.Tyr15Cys) c.169A>G (p.Met57Val) c.133A>G (p.Met45Val) | gnomAD v4 |
6 | g.50818968A>T | CA364410252 | TFAP2B | c.77A>T (p.Tyr26Phe) c.44A>T (p.Tyr15Phe) c.169A>T (p.Met57Leu) c.133A>T (p.Met45Leu) | |
6 | g.50818969T>A | CA364410258 | TFAP2B | c.78T>A (p.Tyr26Ter) c.45T>A (p.Tyr15Ter) c.170T>A (p.Met57Lys) c.134T>A (p.Met45Lys) | |
6 | g.50818969T>C | CA3850252 | TFAP2B | c.78T>C (p.Tyr26=) c.45T>C (p.Tyr15=) c.170T>C (p.Met57Thr) c.134T>C (p.Met45Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.50818969T>G | CA364410256 | TFAP2B | c.78T>G (p.Tyr26Ter) c.45T>G (p.Tyr15Ter) c.170T>G (p.Met57Arg) c.134T>G (p.Met45Arg) | |
6 | g.50818969T= | CA1628063509 | TFAP2B | c.78T= (p.Tyr26=) c.45T= (p.Tyr15=) c.170T= (p.Met57=) c.134T= (p.Met45=) | |
6 | g.50818970G>A | CA364410261 | TFAP2B | c.79G>A (p.Glu27Lys) c.46G>A (p.Glu16Lys) c.171G>A (p.Met57Ile) c.135G>A (p.Met45Ile) | gnomAD v4 |
6 | g.50818970G>C | CA364410264 | TFAP2B | c.79G>C (p.Glu27Gln) c.46G>C (p.Glu16Gln) c.171G>C (p.Met57Ile) c.135G>C (p.Met45Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.50818970G= | CA1628063511 | TFAP2B | c.79G= (p.Glu27=) c.46G= (p.Glu16=) c.171G= (p.Met57=) c.135G= (p.Met45=) | |
6 | g.50818970G>T | CA364410266 | TFAP2B | c.79G>T (p.Glu27Ter) c.46G>T (p.Glu16Ter) c.171G>T (p.Met57Ile) c.135G>T (p.Met45Ile) | |
6 | g.50818971A>C | CA364410268 | TFAP2B | c.80A>C (p.Glu27Ala) c.47A>C (p.Glu16Ala) c.172A>C (p.Ser58Arg) c.136A>C (p.Ser46Arg) | |
6 | g.50818971A>G | CA364410270 | TFAP2B | c.80A>G (p.Glu27Gly) c.47A>G (p.Glu16Gly) c.172A>G (p.Ser58Gly) c.136A>G (p.Ser46Gly) | gnomAD v4 |
6 | g.50818971A>T | CA364410272 | TFAP2B | c.80A>T (p.Glu27Val) c.47A>T (p.Glu16Val) c.172A>T (p.Ser58Cys) c.136A>T (p.Ser46Cys) | |
6 | g.50818972G>A | CA138859476 | TFAP2B | c.81G>A (p.Glu27=) c.48G>A (p.Glu16=) c.173G>A (p.Ser58Asn) c.137G>A (p.Ser46Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.50818972G>C | CA364410275 | TFAP2B | c.81G>C (p.Glu27Asp) c.48G>C (p.Glu16Asp) c.173G>C (p.Ser58Thr) c.137G>C (p.Ser46Thr) | |
6 | g.50818972G= | CA1628063515 | TFAP2B | c.81G= (p.Glu27=) c.48G= (p.Glu16=) c.173G= (p.Ser58=) c.137G= (p.Ser46=) | |
6 | g.50818972G>T | CA364410277 | TFAP2B | c.81G>T (p.Glu27Asp) c.48G>T (p.Glu16Asp) c.173G>T (p.Ser58Ile) c.137G>T (p.Ser46Ile) | |
6 | g.50818973G>A | CA364410280 | TFAP2B | c.81+1G>A (n.81+1G>A) c.48+1G>A (n.48+1G>A) c.173+1G>A (n.173+1G>A) c.137+1G>A (n.137+1G>A) | |
6 | g.50818973G>C | CA364410282 | TFAP2B | c.81+1G>C (n.81+1G>C) c.48+1G>C (n.48+1G>C) c.173+1G>C (n.173+1G>C) c.137+1G>C (n.137+1G>C) | |
6 | g.50818973G>T | CA364410284 | TFAP2B | c.81+1G>T (n.81+1G>T) c.48+1G>T (n.48+1G>T) c.173+1G>T (n.173+1G>T) c.137+1G>T (n.137+1G>T) | |
6 | g.50818974T>A | CA364410291 | TFAP2B | c.81+2T>A (n.81+2T>A) c.48+2T>A (n.48+2T>A) c.173+2T>A (n.173+2T>A) c.137+2T>A (n.137+2T>A) | |
6 | g.50818974T>C | CA364410289 | TFAP2B | c.81+2T>C (n.81+2T>C) c.48+2T>C (n.48+2T>C) c.173+2T>C (n.173+2T>C) c.137+2T>C (n.137+2T>C) | |
6 | g.50818974T>G | CA364410287 | TFAP2B | c.81+2T>G (n.81+2T>G) c.48+2T>G (n.48+2T>G) c.173+2T>G (n.173+2T>G) c.137+2T>G (n.137+2T>G) | gnomAD v4 |
6 | g.50818975G>C | CA2679069781 | TFAP2B | c.81+3G>C (n.81+3G>C) c.48+3G>C (n.48+3G>C) c.173+3G>C (n.173+3G>C) c.137+3G>C (n.137+3G>C) | gnomAD v4 |
6 | g.50818978T>C | CA3850253 | TFAP2B | c.81+6T>C (n.81+6T>C) c.48+6T>C (n.48+6T>C) c.173+6T>C (n.173+6T>C) c.137+6T>C (n.137+6T>C) | dbSNP ExAC gnomAD v2 |
6 | g.50818978T= | CA1628063517 | TFAP2B | c.81+6T= (n.81+6T=) c.48+6T= (n.48+6T=) c.173+6T= (n.173+6T=) c.137+6T= (n.137+6T=) | |
6 | g.50818979C= | CA1628063520 | TFAP2B | c.81+7C= (n.81+7C=) c.48+7C= (n.48+7C=) c.173+7C= (n.173+7C=) c.137+7C= (n.137+7C=) | |
6 | g.50818979C>T | CA3850254 | TFAP2B | c.81+7C>T (n.81+7C>T) c.48+7C>T (n.48+7C>T) c.173+7C>T (n.173+7C>T) c.137+7C>T (n.137+7C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.50818980G>A | CA2578644052 | TFAP2B | c.81+8G>A (n.81+8G>A) c.48+8G>A (n.48+8G>A) c.173+8G>A (n.173+8G>A) c.137+8G>A (n.137+8G>A) | |
6 | g.50818980G>T | CA2578644053 | TFAP2B | c.81+8G>T (n.81+8G>T) c.48+8G>T (n.48+8G>T) c.173+8G>T (n.173+8G>T) c.137+8G>T (n.137+8G>T) | gnomAD v4 |
6 | g.50818981A= | CA1628063523 | TFAP2B | c.81+9A= (n.81+9A=) c.48+9A= (n.48+9A=) c.173+9A= (n.173+9A=) c.137+9A= (n.137+9A=) | |
6 | g.50818981A>G | CA1088909470 | TFAP2B | c.81+9A>G (n.81+9A>G) c.48+9A>G (n.48+9A>G) c.173+9A>G (n.173+9A>G) c.137+9A>G (n.137+9A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.50818983A>G | CA2679069782 | TFAP2B | c.81+11A>G (n.81+11A>G) c.48+11A>G (n.48+11A>G) c.173+11A>G (n.173+11A>G) c.137+11A>G (n.137+11A>G) | gnomAD v4 |
6 | g.50818984C>A | CA138859482 | TFAP2B | c.81+12C>A (n.81+12C>A) c.48+12C>A (n.48+12C>A) c.173+12C>A (n.173+12C>A) c.137+12C>A (n.137+12C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.50818984C= | CA1628063525 | TFAP2B | c.81+12C= (n.81+12C=) c.48+12C= (n.48+12C=) c.173+12C= (n.173+12C=) c.137+12C= (n.137+12C=) | |
6 | g.50818984C>T | CA825611925 | TFAP2B | c.81+12C>T (n.81+12C>T) c.48+12C>T (n.48+12C>T) c.173+12C>T (n.173+12C>T) c.137+12C>T (n.137+12C>T) | dbSNP gnomAD v4 |
6 | g.50818988del | CA2578644054 | TFAP2B | c.81+16del (n.81+16del) c.48+16del (n.48+16del) c.173+16del (n.173+16del) c.137+16del (n.137+16del) | gnomAD v4 |
6 | g.50818985C>A | CA2597064690 | TFAP2B | c.81+13C>A (n.81+13C>A) c.48+13C>A (n.48+13C>A) c.173+13C>A (n.173+13C>A) c.137+13C>A (n.137+13C>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.50818986C= | CA1628063527 | TFAP2B | c.81+14C= (n.81+14C=) c.48+14C= (n.48+14C=) c.173+14C= (n.173+14C=) c.137+14C= (n.137+14C=) | |
6 | g.50818986C>G | CA3850255 | TFAP2B | c.81+14C>G (n.81+14C>G) c.48+14C>G (n.48+14C>G) c.173+14C>G (n.173+14C>G) c.137+14C>G (n.137+14C>G) | dbSNP ExAC gnomAD v2 |
6 | g.50818986_50819003delinsCCCAGATGCACCTTAGAG | CA1628063529 | TFAP2B | c.81+14_81+31delinsCCCAGATGCACCTTAGAG (n.81+14_81+31delinsCCCAGATGCACCTTAGAG) c.48+14_48+31delinsCCCAGATGCACCTTAGAG (n.48+14_48+31delinsCCCAGATGCACCTTAGAG) c.173+14_173+31delinsCCCAGATGCACCTTAGAG (n.173+14_173+31delinsCCCAGATGCACCTTAGAG) c.137+14_137+31delinsCCCAGATGCACCTTAGAG (n.137+14_137+31delinsCCCAGATGCACCTTAGAG) | |
6 | g.50818987C= | CA1628063532 | TFAP2B | c.81+15C= (n.81+15C=) c.48+15C= (n.48+15C=) c.173+15C= (n.173+15C=) c.137+15C= (n.137+15C=) | |
6 | g.50818987C>G | CA3850256 | TFAP2B | c.81+15C>G (n.81+15C>G) c.48+15C>G (n.48+15C>G) c.173+15C>G (n.173+15C>G) c.137+15C>G (n.137+15C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.50818987C>T | CA2679069783 | TFAP2B | c.81+15C>T (n.81+15C>T) c.48+15C>T (n.48+15C>T) c.173+15C>T (n.173+15C>T) c.137+15C>T (n.137+15C>T) | gnomAD v4 |
6 | g.50818988_50819004del | CA1628063531 | TFAP2B | c.81+16_81+32del (n.81+16_81+32del) c.48+16_48+32del (n.48+16_48+32del) c.173+16_173+32del (n.173+16_173+32del) c.137+16_137+32del (n.137+16_137+32del) | dbSNP |
6 | g.50818988C>A | CA2578644055 | TFAP2B | c.81+16C>A (n.81+16C>A) c.48+16C>A (n.48+16C>A) c.173+16C>A (n.173+16C>A) c.137+16C>A (n.137+16C>A) | |
6 | g.50818988C= | CA1628063534 | TFAP2B | c.81+16C= (n.81+16C=) c.48+16C= (n.48+16C=) c.173+16C= (n.173+16C=) c.137+16C= (n.137+16C=) | |
6 | g.50818988C>T | CA3850257 | TFAP2B | c.81+16C>T (n.81+16C>T) c.48+16C>T (n.48+16C>T) c.173+16C>T (n.173+16C>T) c.137+16C>T (n.137+16C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.50818989A= | CA1628063538 | TFAP2B | c.81+17A= (n.81+17A=) c.48+17A= (n.48+17A=) c.173+17A= (n.173+17A=) c.137+17A= (n.137+17A=) | |
6 | g.50818989A>G | CA567278114 | TFAP2B | c.81+17A>G (n.81+17A>G) c.48+17A>G (n.48+17A>G) c.173+17A>G (n.173+17A>G) c.137+17A>G (n.137+17A>G) | dbSNP gnomAD v2 |