| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.50818854C>A | CA3850236 | TFAP2B | c.-71C>A (n.-71C>A) c.-38C>A (n.-38C>A) c.55C>A (p.Arg19=) c.19C>A (p.Arg7=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.50818854C= | CA1628063424 | TFAP2B | c.-71C= (n.-71C=) c.-38C= (n.-38C=) c.55C= (p.Arg19=) c.19C= (p.Arg7=) | |
| 6 | g.50818854C>T | CA2679069768 | TFAP2B | c.-71C>T (n.-71C>T) c.-38C>T (n.-38C>T) c.55C>T (p.Arg19Trp) c.19C>T (p.Arg7Trp) | gnomAD v4 |
| 6 | g.50818855G>A | CA138859433 | TFAP2B | c.-70G>A (n.-70G>A) c.-37G>A (n.-37G>A) c.56G>A (p.Arg19Gln) c.20G>A (p.Arg7Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.50818855G= | CA1628063427 | TFAP2B | c.-70G= (n.-70G=) c.-37G= (n.-37G=) c.56G= (p.Arg19=) c.20G= (p.Arg7=) | |
| 6 | g.50818855G>T | CA2679069769 | TFAP2B | c.-70G>T (n.-70G>T) c.-37G>T (n.-37G>T) c.56G>T (p.Arg19Leu) c.20G>T (p.Arg7Leu) | gnomAD v4 |
| 6 | g.50818856G>A | CA2526310199 | TFAP2B | c.-69G>A (n.-69G>A) c.-36G>A (n.-36G>A) c.57G>A (p.Arg19=) c.21G>A (p.Arg7=) | |
| 6 | g.50818858G>A | CA3850237 | TFAP2B | c.-67G>A (n.-67G>A) c.-34G>A (n.-34G>A) c.59G>A (p.Ser20Asn) c.23G>A (p.Ser8Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.50818858G>C | CA3850238 | TFAP2B | c.-67G>C (n.-67G>C) c.-34G>C (n.-34G>C) c.59G>C (p.Ser20Thr) c.23G>C (p.Ser8Thr) | dbSNP ExAC gnomAD v4 |
| 6 | g.50818858G= | CA1628063431 | TFAP2B | c.-67G= (n.-67G=) c.-34G= (n.-34G=) c.59G= (p.Ser20=) c.23G= (p.Ser8=) | |
| 6 | g.50818858G>T | CA2581583573 | TFAP2B | c.-67G>T (n.-67G>T) c.-34G>T (n.-34G>T) c.59G>T (p.Ser20Ile) c.23G>T (p.Ser8Ile) | |
| 6 | g.50818860C>A | CA2559705490 | TFAP2B | c.-65C>A (n.-65C>A) c.-32C>A (n.-32C>A) c.61C>A (p.Pro21Thr) c.25C>A (p.Pro9Thr) | |
| 6 | g.50818860C>T | CA2679069771 | TFAP2B | c.-65C>T (n.-65C>T) c.-32C>T (n.-32C>T) c.61C>T (p.Pro21Ser) c.25C>T (p.Pro9Ser) | gnomAD v4 |
| 6 | g.50818861del | CA2679069770 | TFAP2B | c.-64del (n.-64del) c.-31del (n.-31del) c.62del (p.Pro21LeufsTer16) c.26del (p.Pro9LeufsTer16) | gnomAD v4 |
| 6 | g.50818863G>A | CA3850239 | TFAP2B | c.-62G>A (n.-62G>A) c.-29G>A (n.-29G>A) c.64G>A (p.Glu22Lys) c.28G>A (p.Glu10Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.50818863G= | CA1628063435 | TFAP2B | c.-62G= (n.-62G=) c.-29G= (n.-29G=) c.64G= (p.Glu22=) c.28G= (p.Glu10=) | |
| 6 | g.50818867A= | CA1628063437 | TFAP2B | c.-58A= (n.-58A=) c.-25A= (n.-25A=) c.68A= (p.Lys23=) c.32A= (p.Lys11=) | |
| 6 | g.50818867A>G | CA567278047 | TFAP2B | c.-58A>G (n.-58A>G) c.-25A>G (n.-25A>G) c.68A>G (p.Lys23Arg) c.32A>G (p.Lys11Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.50818868G>T | CA2536072945 | TFAP2B | c.-57G>T (n.-57G>T) c.-24G>T (n.-24G>T) c.69G>T (p.Lys23Asn) c.33G>T (p.Lys11Asn) | |
| 6 | g.50818869C>A | CA2679069772 | TFAP2B | c.-56C>A (n.-56C>A) c.-23C>A (n.-23C>A) c.70C>A (p.Pro24Thr) c.34C>A (p.Pro12Thr) | gnomAD v4 |
| 6 | g.50818869C>G | CA2679069773 | TFAP2B | c.-56C>G (n.-56C>G) c.-23C>G (n.-23C>G) c.70C>G (p.Pro24Ala) c.34C>G (p.Pro12Ala) | gnomAD v4 |
| 6 | g.50818872G>A | CA567278048 | TFAP2B | c.-20G>A (n.-20G>A) c.-53G>A (n.-53G>A) c.73G>A (p.Asp25Asn) c.37G>A (p.Asp13Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.50818872G>C | CA2679069774 | TFAP2B | c.-20G>C (n.-20G>C) c.-53G>C (n.-53G>C) c.73G>C (p.Asp25His) c.37G>C (p.Asp13His) | gnomAD v4 |
| 6 | g.50818872G= | CA1628063440 | TFAP2B | c.-20G= (n.-20G=) c.-53G= (n.-53G=) c.73G= (p.Asp25=) c.37G= (p.Asp13=) | |
| 6 | g.50818873A= | CA1628063442 | TFAP2B | c.-19A= (n.-19A=) c.-52A= (n.-52A=) c.74A= (p.Asp25=) c.38A= (p.Asp13=) | |
| 6 | g.50818873A>G | CA3850240 | TFAP2B | c.-19A>G (n.-19A>G) c.-52A>G (n.-52A>G) c.74A>G (p.Asp25Gly) c.38A>G (p.Asp13Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.50818874_50818886delinsCATCTGCTCCTCA | CA1628063444 | TFAP2B | c.-18_-6delinsCATCTGCTCCTCA (n.-18_-6delinsCATCTGCTCCTCA) c.-51_-39delinsCATCTGCTCCTCA (n.-51_-39delinsCATCTGCTCCTCA) c.75_87delinsCATCTGCTCCTCA (p.Asp25=) c.39_51delinsCATCTGCTCCTCA (p.Asp13=) | |
| 6 | g.50818875_50818886del | CA3850241 | TFAP2B | c.-17_-6del (n.-17_-6del) c.-50_-39del (n.-50_-39del) c.76_87del (p.Ile26_Ser29del) c.40_51del (p.Ile14_Ser17del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.50818877C>A | CA3850242 | TFAP2B | c.-15C>A (n.-15C>A) c.-48C>A (n.-48C>A) c.78C>A (p.Ile26=) c.42C>A (p.Ile14=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.50818877C= | CA1628063448 | TFAP2B | c.-15C= (n.-15C=) c.-48C= (n.-48C=) c.78C= (p.Ile26=) c.42C= (p.Ile14=) | |
| 6 | g.50818878T>C | CA1628063451 | TFAP2B | c.-14T>C (n.-14T>C) c.-47T>C (n.-47T>C) c.79T>C (p.Cys27Arg) c.43T>C (p.Cys15Arg) | dbSNP |
| 6 | g.50818878T= | CA1628063450 | TFAP2B | c.-14T= (n.-14T=) c.-47T= (n.-47T=) c.79T= (p.Cys27=) c.43T= (p.Cys15=) | |
| 6 | g.50818879G>A | CA2679069775 | TFAP2B | c.-13G>A (n.-13G>A) c.-46G>A (n.-46G>A) c.80G>A (p.Cys27Tyr) c.44G>A (p.Cys15Tyr) | gnomAD v4 |
| 6 | g.50818879G>C | CA2679069776 | TFAP2B | c.-13G>C (n.-13G>C) c.-46G>C (n.-46G>C) c.80G>C (p.Cys27Ser) c.44G>C (p.Cys15Ser) | gnomAD v4 |
| 6 | g.50818879G= | CA1628063452 | TFAP2B | c.-13G= (n.-13G=) c.-46G= (n.-46G=) c.80G= (p.Cys27=) c.44G= (p.Cys15=) | |
| 6 | g.50818879G>T | CA567278053 | TFAP2B | c.-13G>T (n.-13G>T) c.-46G>T (n.-46G>T) c.80G>T (p.Cys27Phe) c.44G>T (p.Cys15Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.50818880C>G | CA2679069777 | TFAP2B | c.-12C>G (n.-12C>G) c.-45C>G (n.-45C>G) c.81C>G (p.Cys27Trp) c.45C>G (p.Cys15Trp) | gnomAD v4 |
| 6 | g.50818882C= | CA1628063454 | TFAP2B | c.-10C= (n.-10C=) c.-43C= (n.-43C=) c.83C= (p.Ser28=) c.47C= (p.Ser16=) | |
| 6 | g.50818882C>T | CA3850243 | TFAP2B | c.-10C>T (n.-10C>T) c.-43C>T (n.-43C>T) c.83C>T (p.Ser28Phe) c.47C>T (p.Ser16Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.50818883C= | CA1628063457 | TFAP2B | c.-9C= (n.-9C=) c.-42C= (n.-42C=) c.84C= (p.Ser28=) c.48C= (p.Ser16=) | |
| 6 | g.50818883C>T | CA3850244 | TFAP2B | c.-9C>T (n.-9C>T) c.-42C>T (n.-42C>T) c.84C>T (p.Ser28=) c.48C>T (p.Ser16=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.50818884T>A | CA2679069778 | TFAP2B | c.-8T>A (n.-8T>A) c.-41T>A (n.-41T>A) c.85T>A (p.Ser29Thr) c.49T>A (p.Ser17Thr) | gnomAD v4 |
| 6 | g.50818885C>T | CA2578644049 | TFAP2B | c.-7C>T (n.-7C>T) c.-40C>T (n.-40C>T) c.86C>T (p.Ser29Leu) c.50C>T (p.Ser17Leu) | gnomAD v4 |
| 6 | g.50818886A= | CA1628063460 | TFAP2B | c.-6A= (n.-6A=) c.-39A= (n.-39A=) c.87A= (p.Ser29=) c.51A= (p.Ser17=) | |
| 6 | g.50818886A>G | CA138859448 | TFAP2B | c.-6A>G (n.-6A>G) c.-39A>G (n.-39A>G) c.87A>G (p.Ser29=) c.51A>G (p.Ser17=) | dbSNP |
| 6 | g.50818887C= | CA1628063461 | TFAP2B | c.-5C= (n.-5C=) c.-38C= (n.-38C=) c.88C= (p.His30=) c.52C= (p.His18=) | |
| 6 | g.50818887C>T | CA1628063462 | TFAP2B | c.-5C>T (n.-5C>T) c.-38C>T (n.-38C>T) c.88C>T (p.His30Tyr) c.52C>T (p.His18Tyr) | dbSNP |
| 6 | g.50818888A= | CA1628063464 | TFAP2B | c.-4A= (n.-4A=) c.-37A= (n.-37A=) c.89A= (p.His30=) c.53A= (p.His18=) | |
| 6 | g.50818888A>C | CA2679069779 | TFAP2B | c.-4A>C (n.-4A>C) c.-37A>C (n.-37A>C) c.89A>C (p.His30Pro) c.53A>C (p.His18Pro) | gnomAD v4 |
| 6 | g.50818888A>G | CA138859450 | TFAP2B | c.-4A>G (n.-4A>G) c.-37A>G (n.-37A>G) c.89A>G (p.His30Arg) c.53A>G (p.His18Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 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) |