Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.108929199_108929380del | CA2586969751 | EDAR,RANBP2 | c.175_356del c.226_407del c.319_500del c.8370+156153_8370+156334del (n.8370+156153_8370+156334del) | |
2 | g.108929263G>A | CA428086837 | EDAR,RANBP2 | c.291C>T (p.Phe97=) c.342C>T (p.Phe114=) c.435C>T (p.Phe145=) c.8370+156217G>A (n.8370+156217G>A) | |
2 | g.108929263G>C | CA348115667 | EDAR,RANBP2 | c.291C>G (p.Phe97Leu) c.342C>G (p.Phe114Leu) c.435C>G (p.Phe145Leu) c.8370+156217G>C (n.8370+156217G>C) | |
2 | g.108929263G>T | CA348115668 | EDAR,RANBP2 | c.291C>A (p.Phe97Leu) c.342C>A (p.Phe114Leu) c.435C>A (p.Phe145Leu) c.8370+156217G>T (n.8370+156217G>T) | |
2 | g.108929264A>C | CA348115669 | EDAR,RANBP2 | c.290T>G (p.Phe97Cys) c.341T>G (p.Phe114Cys) c.434T>G (p.Phe145Cys) c.8370+156218A>C (n.8370+156218A>C) | |
2 | g.108929264A>G | CA348115670 | EDAR,RANBP2 | c.290T>C (p.Phe97Ser) c.341T>C (p.Phe114Ser) c.434T>C (p.Phe145Ser) c.8370+156218A>G (n.8370+156218A>G) | |
2 | g.108929264A>T | CA348115671 | EDAR,RANBP2 | c.290T>A (p.Phe97Tyr) c.341T>A (p.Phe114Tyr) c.434T>A (p.Phe145Tyr) c.8370+156218A>T (n.8370+156218A>T) | |
2 | g.108929265A= | CA1278368543 | EDAR,RANBP2 | c.289T= (p.Phe97=) c.340T= (p.Phe114=) c.433T= (p.Phe145=) c.8370+156219A= (n.8370+156219A=) | |
2 | g.108929265A>C | CA348115672 | EDAR,RANBP2 | c.289T>G (p.Phe97Val) c.340T>G (p.Phe114Val) c.433T>G (p.Phe145Val) c.8370+156219A>C (n.8370+156219A>C) | |
2 | g.108929265A>G | CA348115673 | EDAR,RANBP2 | c.289T>C (p.Phe97Leu) c.340T>C (p.Phe114Leu) c.433T>C (p.Phe145Leu) c.8370+156219A>G (n.8370+156219A>G) | dbSNP gnomAD v4 |
2 | g.108929265A>T | CA348115674 | EDAR,RANBP2 | c.289T>A (p.Phe97Ile) c.340T>A (p.Phe114Ile) c.433T>A (p.Phe145Ile) c.8370+156219A>T (n.8370+156219A>T) | |
2 | g.108929266G>A | CA428086838 | EDAR,RANBP2 | c.288C>T (p.Phe96=) c.339C>T (p.Phe113=) c.432C>T (p.Phe144=) c.8370+156220G>A (n.8370+156220G>A) | COSMIC COSMIC |
2 | g.108929266G>C | CA348115676 | EDAR,RANBP2 | c.288C>G (p.Phe96Leu) c.339C>G (p.Phe113Leu) c.432C>G (p.Phe144Leu) c.8370+156220G>C (n.8370+156220G>C) | |
2 | g.108929266G>T | CA348115675 | EDAR,RANBP2 | c.288C>A (p.Phe96Leu) c.339C>A (p.Phe113Leu) c.432C>A (p.Phe144Leu) c.8370+156220G>T (n.8370+156220G>T) | |
2 | g.108929267A= | CA1278368544 | EDAR,RANBP2 | c.287T= (p.Phe96=) c.338T= (p.Phe113=) c.431T= (p.Phe144=) c.8370+156221A= (n.8370+156221A=) | |
2 | g.108929267A>C | CA348115677 | EDAR,RANBP2 | c.287T>G (p.Phe96Cys) c.338T>G (p.Phe113Cys) c.431T>G (p.Phe144Cys) c.8370+156221A>C (n.8370+156221A>C) | |
2 | g.108929267A>G | CA348115678 | EDAR,RANBP2 | c.287T>C (p.Phe96Ser) c.338T>C (p.Phe113Ser) c.431T>C (p.Phe144Ser) c.8370+156221A>G (n.8370+156221A>G) | ClinVar dbSNP |
2 | g.108929267A>T | CA348115679 | EDAR,RANBP2 | c.287T>A (p.Phe96Tyr) c.338T>A (p.Phe113Tyr) c.431T>A (p.Phe144Tyr) c.8370+156221A>T (n.8370+156221A>T) | |
2 | g.108929268A>C | CA348115680 | EDAR,RANBP2 | c.286T>G (p.Phe96Val) c.337T>G (p.Phe113Val) c.430T>G (p.Phe144Val) c.8370+156222A>C (n.8370+156222A>C) | |
2 | g.108929268A>G | CA348115681 | EDAR,RANBP2 | c.286T>C (p.Phe96Leu) c.337T>C (p.Phe113Leu) c.430T>C (p.Phe144Leu) c.8370+156222A>G (n.8370+156222A>G) | gnomAD v4 |
2 | g.108929268A>T | CA348115682 | EDAR,RANBP2 | c.286T>A (p.Phe96Ile) c.337T>A (p.Phe113Ile) c.430T>A (p.Phe144Ile) c.8370+156222A>T (n.8370+156222A>T) | |
2 | g.108929269G>A | CA428086839 | EDAR,RANBP2 | c.285C>T (p.Gly95=) c.336C>T (p.Gly112=) c.429C>T (p.Gly143=) c.8370+156223G>A (n.8370+156223G>A) | |
2 | g.108929269G>C | CA428086840 | EDAR,RANBP2 | c.285C>G (p.Gly95=) c.336C>G (p.Gly112=) c.429C>G (p.Gly143=) c.8370+156223G>C (n.8370+156223G>C) | |
2 | g.108929269G>T | CA428086841 | EDAR,RANBP2 | c.285C>A (p.Gly95=) c.336C>A (p.Gly112=) c.429C>A (p.Gly143=) c.8370+156223G>T (n.8370+156223G>T) | |
2 | g.108929269_108929270delinsGC | CA1278368545 | EDAR,RANBP2 | c.284_285delinsGC (p.Gly95=) c.335_336delinsGC (p.Gly112=) c.428_429delinsGC (p.Gly143=) c.8370+156223_8370+156224delinsGC (n.8370+156223_8370+156224delinsGC) | |
2 | g.108929270C>A | CA348115683 | EDAR,RANBP2 | c.284G>T (p.Gly95Val) c.335G>T (p.Gly112Val) c.428G>T (p.Gly143Val) c.8370+156224C>A (n.8370+156224C>A) | dbSNP gnomAD v4 |
2 | g.108929270C= | CA1278368546 | EDAR,RANBP2 | c.284G= (p.Gly95=) c.335G= (p.Gly112=) c.428G= (p.Gly143=) c.8370+156224C= (n.8370+156224C=) | |
2 | g.108929270C>G | CA348115684 | EDAR,RANBP2 | c.284G>C (p.Gly95Ala) c.335G>C (p.Gly112Ala) c.428G>C (p.Gly143Ala) c.8370+156224C>G (n.8370+156224C>G) | |
2 | g.108929270C>T | CA348115685 | EDAR,RANBP2 | c.284G>A (p.Gly95Asp) c.335G>A (p.Gly112Asp) c.428G>A (p.Gly143Asp) c.8370+156224C>T (n.8370+156224C>T) | gnomAD v4 |
2 | g.108929272del | CA16616897 | EDAR,RANBP2 | c.284del (p.Gly95AlafsTer8) c.335del (p.Gly112AlafsTer8) c.428del (p.Gly143AlafsTer8) c.8370+156226del (n.8370+156226del) | ClinVar dbSNP |
2 | g.108929271C>A | CA348115686 | EDAR,RANBP2 | c.283G>T (p.Gly95Cys) c.334G>T (p.Gly112Cys) c.427G>T (p.Gly143Cys) c.8370+156225C>A (n.8370+156225C>A) | |
2 | g.108929271C= | CA1278368547 | EDAR,RANBP2 | c.283G= (p.Gly95=) c.334G= (p.Gly112=) c.427G= (p.Gly143=) c.8370+156225C= (n.8370+156225C=) | |
2 | g.108929271C>G | CA348115687 | EDAR,RANBP2 | c.283G>C (p.Gly95Arg) c.334G>C (p.Gly112Arg) c.427G>C (p.Gly143Arg) c.8370+156225C>G (n.8370+156225C>G) | gnomAD v4 |
2 | g.108929271C>T | CA1825138 | EDAR,RANBP2 | c.283G>A (p.Gly95Ser) c.334G>A (p.Gly112Ser) c.427G>A (p.Gly143Ser) c.8370+156225C>T (n.8370+156225C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108929272C>A | CA348115688 | EDAR,RANBP2 | c.282G>T (p.Glu94Asp) c.333G>T (p.Glu111Asp) c.426G>T (p.Glu142Asp) c.8370+156226C>A (n.8370+156226C>A) | |
2 | g.108929272C>G | CA348115689 | EDAR,RANBP2 | c.282G>C (p.Glu94Asp) c.333G>C (p.Glu111Asp) c.426G>C (p.Glu142Asp) c.8370+156226C>G (n.8370+156226C>G) | |
2 | g.108929272C>T | CA428086842 | EDAR,RANBP2 | c.282G>A (p.Glu94=) c.333G>A (p.Glu111=) c.426G>A (p.Glu142=) c.8370+156226C>T (n.8370+156226C>T) | gnomAD v4 |
2 | g.108929273T>A | CA348115690 | EDAR,RANBP2 | c.281A>T (p.Glu94Val) c.332A>T (p.Glu111Val) c.425A>T (p.Glu142Val) c.8370+156227T>A (n.8370+156227T>A) | |
2 | g.108929273T>C | CA348115691 | EDAR,RANBP2 | c.281A>G (p.Glu94Gly) c.332A>G (p.Glu111Gly) c.425A>G (p.Glu142Gly) c.8370+156227T>C (n.8370+156227T>C) | |
2 | g.108929273T>G | CA348115692 | EDAR,RANBP2 | c.281A>C (p.Glu94Ala) c.332A>C (p.Glu111Ala) c.425A>C (p.Glu142Ala) c.8370+156227T>G (n.8370+156227T>G) | |
2 | g.108929274C>A | CA348115693 | EDAR,RANBP2 | c.280G>T (p.Glu94Ter) c.331G>T (p.Glu111Ter) c.424G>T (p.Glu142Ter) c.8370+156228C>A (n.8370+156228C>A) | |
2 | g.108929274C>G | CA348115694 | EDAR,RANBP2 | c.280G>C (p.Glu94Gln) c.331G>C (p.Glu111Gln) c.424G>C (p.Glu142Gln) c.8370+156228C>G (n.8370+156228C>G) | |
2 | g.108929274C>T | CA348115695 | EDAR,RANBP2 | c.280G>A (p.Glu94Lys) c.331G>A (p.Glu111Lys) c.424G>A (p.Glu142Lys) c.8370+156228C>T (n.8370+156228C>T) | |
2 | g.108929275A= | CA1278368548 | EDAR,RANBP2 | c.279T= (p.Cys93=) c.330T= (p.Cys110=) c.423T= (p.Cys141=) c.8370+156229A= (n.8370+156229A=) | |
2 | g.108929275A>C | CA1825139 | EDAR,RANBP2 | c.279T>G (p.Cys93Trp) c.330T>G (p.Cys110Trp) c.423T>G (p.Cys141Trp) c.8370+156229A>C (n.8370+156229A>C) | dbSNP ExAC gnomAD v4 |
2 | g.108929275A>G | CA428086843 | EDAR,RANBP2 | c.279T>C (p.Cys93=) c.330T>C (p.Cys110=) c.423T>C (p.Cys141=) c.8370+156229A>G (n.8370+156229A>G) | gnomAD v4 |
2 | g.108929275A>T | CA348115696 | EDAR,RANBP2 | c.279T>A (p.Cys93Ter) c.330T>A (p.Cys110Ter) c.423T>A (p.Cys141Ter) c.8370+156229A>T (n.8370+156229A>T) | |
2 | g.108929276C>A | CA348115697 | EDAR,RANBP2 | c.278G>T (p.Cys93Phe) c.329G>T (p.Cys110Phe) c.422G>T (p.Cys141Phe) c.8370+156230C>A (n.8370+156230C>A) | |
2 | g.108929276C= | CA1278368549 | EDAR,RANBP2 | c.278G= (p.Cys93=) c.329G= (p.Cys110=) c.422G= (p.Cys141=) c.8370+156230C= (n.8370+156230C=) | |
2 | g.108929276C>G | CA348115698 | EDAR,RANBP2 | c.278G>C (p.Cys93Ser) c.329G>C (p.Cys110Ser) c.422G>C (p.Cys141Ser) c.8370+156230C>G (n.8370+156230C>G) | ClinVar dbSNP |
2 | g.108929276C>T | CA348115699 | EDAR,RANBP2 | c.278G>A (p.Cys93Tyr) c.329G>A (p.Cys110Tyr) c.422G>A (p.Cys141Tyr) c.8370+156230C>T (n.8370+156230C>T) | |
2 | g.108929277A= | CA1278368550 | EDAR,RANBP2 | c.277T= (p.Cys93=) c.328T= (p.Cys110=) c.421T= (p.Cys141=) c.8370+156231A= (n.8370+156231A=) | |
2 | g.108929277A>C | CA348115702 | EDAR,RANBP2 | c.277T>G (p.Cys93Gly) c.328T>G (p.Cys110Gly) c.421T>G (p.Cys141Gly) c.8370+156231A>C (n.8370+156231A>C) | |
2 | g.108929277A>G | CA348115701 | EDAR,RANBP2 | c.277T>C (p.Cys93Arg) c.328T>C (p.Cys110Arg) c.421T>C (p.Cys141Arg) c.8370+156231A>G (n.8370+156231A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108929277A>T | CA348115700 | EDAR,RANBP2 | c.277T>A (p.Cys93Ser) c.328T>A (p.Cys110Ser) c.421T>A (p.Cys141Ser) c.8370+156231A>T (n.8370+156231A>T) | |
2 | g.108929278G>A | CA428086844 | EDAR,RANBP2 | c.276C>T (p.Asp92=) c.327C>T (p.Asp109=) c.420C>T (p.Asp140=) c.8370+156232G>A (n.8370+156232G>A) | |
2 | g.108929278G>C | CA348115703 | EDAR,RANBP2 | c.276C>G (p.Asp92Glu) c.327C>G (p.Asp109Glu) c.420C>G (p.Asp140Glu) c.8370+156232G>C (n.8370+156232G>C) | |
2 | g.108929278G>T | CA348115704 | EDAR,RANBP2 | c.276C>A (p.Asp92Glu) c.327C>A (p.Asp109Glu) c.420C>A (p.Asp140Glu) c.8370+156232G>T (n.8370+156232G>T) | |
2 | g.108929278_108929279insGCG | CA2586969752 | EDAR,RANBP2 | c.276_277insGCC (p.Asp92_Cys93insAla) c.327_328insGCC (p.Asp109_Cys110insAla) c.420_421insGCC (p.Asp140_Cys141insAla) c.8370+156232_8370+156233insGCG (n.8370+156232_8370+156233insGCG) | |
2 | g.108929279T>A | CA348115705 | EDAR,RANBP2 | c.275A>T (p.Asp92Val) c.326A>T (p.Asp109Val) c.419A>T (p.Asp140Val) c.8370+156233T>A (n.8370+156233T>A) | |
2 | g.108929279T>C | CA1825140 | EDAR,RANBP2 | c.275A>G (p.Asp92Gly) c.326A>G (p.Asp109Gly) c.419A>G (p.Asp140Gly) c.8370+156233T>C (n.8370+156233T>C) | ClinVar dbSNP ExAC |
2 | g.108929279T>G | CA348115706 | EDAR,RANBP2 | c.275A>C (p.Asp92Ala) c.326A>C (p.Asp109Ala) c.419A>C (p.Asp140Ala) c.8370+156233T>G (n.8370+156233T>G) | |
2 | g.108929279T= | CA1278368551 | EDAR,RANBP2 | c.275A= (p.Asp92=) c.326A= (p.Asp109=) c.419A= (p.Asp140=) c.8370+156233T= (n.8370+156233T=) | |
2 | g.108929280C>A | CA348115707 | EDAR,RANBP2 | c.274G>T (p.Asp92Tyr) c.325G>T (p.Asp109Tyr) c.418G>T (p.Asp140Tyr) c.8370+156234C>A (n.8370+156234C>A) | |
2 | g.108929280C>G | CA348115708 | EDAR,RANBP2 | c.274G>C (p.Asp92His) c.325G>C (p.Asp109His) c.418G>C (p.Asp140His) c.8370+156234C>G (n.8370+156234C>G) | |
2 | g.108929280C>T | CA348115709 | EDAR,RANBP2 | c.274G>A (p.Asp92Asn) c.325G>A (p.Asp109Asn) c.418G>A (p.Asp140Asn) c.8370+156234C>T (n.8370+156234C>T) | |
2 | g.108929281T>A | CA348115710 | EDAR,RANBP2 | c.273A>T (p.Lys91Asn) c.324A>T (p.Lys108Asn) c.417A>T (p.Lys139Asn) c.8370+156235T>A (n.8370+156235T>A) | |
2 | g.108929281T>C | CA428086845 | EDAR,RANBP2 | c.273A>G (p.Lys91=) c.324A>G (p.Lys108=) c.417A>G (p.Lys139=) c.8370+156235T>C (n.8370+156235T>C) | dbSNP |
2 | g.108929281T>G | CA348115711 | EDAR,RANBP2 | c.273A>C (p.Lys91Asn) c.324A>C (p.Lys108Asn) c.417A>C (p.Lys139Asn) c.8370+156235T>G (n.8370+156235T>G) | |
2 | g.108929281T= | CA1278368552 | EDAR,RANBP2 | c.273A= (p.Lys91=) c.324A= (p.Lys108=) c.417A= (p.Lys139=) c.8370+156235T= (n.8370+156235T=) | |
2 | g.108929282_108929283del | CA2660611276 | EDAR,RANBP2 | c.272_273del (p.Lys91ArgfsTer3) c.323_324del (p.Lys108ArgfsTer3) c.416_417del (p.Lys139ArgfsTer3) c.8370+156236_8370+156237del (n.8370+156236_8370+156237del) | gnomAD v4 |
2 | g.108929282T>A | CA348115712 | EDAR,RANBP2 | c.272A>T (p.Lys91Ile) c.323A>T (p.Lys108Ile) c.416A>T (p.Lys139Ile) c.8370+156236T>A (n.8370+156236T>A) | |
2 | g.108929282T>C | CA348115713 | EDAR,RANBP2 | c.272A>G (p.Lys91Arg) c.323A>G (p.Lys108Arg) c.416A>G (p.Lys139Arg) c.8370+156236T>C (n.8370+156236T>C) | gnomAD v4 |
2 | g.108929282T>G | CA348115714 | EDAR,RANBP2 | c.272A>C (p.Lys91Thr) c.323A>C (p.Lys108Thr) c.416A>C (p.Lys139Thr) c.8370+156236T>G (n.8370+156236T>G) | |
2 | g.108929283T>A | CA348115716 | EDAR,RANBP2 | c.271A>T (p.Lys91Ter) c.322A>T (p.Lys108Ter) c.415A>T (p.Lys139Ter) c.8370+156237T>A (n.8370+156237T>A) | |
2 | g.108929283T>C | CA348115717 | EDAR,RANBP2 | c.271A>G (p.Lys91Glu) c.322A>G (p.Lys108Glu) c.415A>G (p.Lys139Glu) c.8370+156237T>C (n.8370+156237T>C) | |
2 | g.108929283T>G | CA348115715 | EDAR,RANBP2 | c.271A>C (p.Lys91Gln) c.322A>C (p.Lys108Gln) c.415A>C (p.Lys139Gln) c.8370+156237T>G (n.8370+156237T>G) | |
2 | g.108929284G>A | CA428086846 | EDAR,RANBP2 | c.270C>T (p.His90=) c.321C>T (p.His107=) c.414C>T (p.His138=) c.8370+156238G>A (n.8370+156238G>A) | |
2 | g.108929284G>C | CA348115718 | EDAR,RANBP2 | c.270C>G (p.His90Gln) c.321C>G (p.His107Gln) c.414C>G (p.His138Gln) c.8370+156238G>C (n.8370+156238G>C) | |
2 | g.108929284G>T | CA348115719 | EDAR,RANBP2 | c.270C>A (p.His90Gln) c.321C>A (p.His107Gln) c.414C>A (p.His138Gln) c.8370+156238G>T (n.8370+156238G>T) | |
2 | g.108929285T>A | CA348115720 | EDAR,RANBP2 | c.269A>T (p.His90Leu) c.320A>T (p.His107Leu) c.413A>T (p.His138Leu) c.8370+156239T>A (n.8370+156239T>A) | |
2 | g.108929285T>C | CA348115721 | EDAR,RANBP2 | c.269A>G (p.His90Arg) c.320A>G (p.His107Arg) c.413A>G (p.His138Arg) c.8370+156239T>C (n.8370+156239T>C) | |
2 | g.108929285T>G | CA348115722 | EDAR,RANBP2 | c.269A>C (p.His90Pro) c.320A>C (p.His107Pro) c.413A>C (p.His138Pro) c.8370+156239T>G (n.8370+156239T>G) | |
2 | g.108929286G>A | CA348115723 | EDAR,RANBP2 | c.268C>T (p.His90Tyr) c.319C>T (p.His107Tyr) c.412C>T (p.His138Tyr) c.8370+156240G>A (n.8370+156240G>A) | |
2 | g.108929286G>C | CA348115724 | EDAR,RANBP2 | c.268C>G (p.His90Asp) c.319C>G (p.His107Asp) c.412C>G (p.His138Asp) c.8370+156240G>C (n.8370+156240G>C) | |
2 | g.108929286G>T | CA348115725 | EDAR,RANBP2 | c.268C>A (p.His90Asn) c.319C>A (p.His107Asn) c.412C>A (p.His138Asn) c.8370+156240G>T (n.8370+156240G>T) | |
2 | g.108929287A= | CA1278368553 | EDAR,RANBP2 | c.267T= (p.Arg89=) c.318T= (p.Arg106=) c.411T= (p.Arg137=) c.8370+156241A= (n.8370+156241A=) | |
2 | g.108929287A>C | CA428086847 | EDAR,RANBP2 | c.267T>G (p.Arg89=) c.318T>G (p.Arg106=) c.411T>G (p.Arg137=) c.8370+156241A>C (n.8370+156241A>C) | |
2 | g.108929287A>G | CA428086848 | EDAR,RANBP2 | c.267T>C (p.Arg89=) c.318T>C (p.Arg106=) c.411T>C (p.Arg137=) c.8370+156241A>G (n.8370+156241A>G) | |
2 | g.108929287A>T | CA428086849 | EDAR,RANBP2 | c.267T>A (p.Arg89=) c.318T>A (p.Arg106=) c.411T>A (p.Arg137=) c.8370+156241A>T (n.8370+156241A>T) | dbSNP gnomAD v4 |
2 | g.108929288C>A | CA348115726 | EDAR,RANBP2 | c.266G>T (p.Arg89Leu) c.317G>T (p.Arg106Leu) c.410G>T (p.Arg137Leu) c.8370+156242C>A (n.8370+156242C>A) | gnomAD v4 |
2 | g.108929288C= | CA1278368554 | EDAR,RANBP2 | c.266G= (p.Arg89=) c.317G= (p.Arg106=) c.410G= (p.Arg137=) c.8370+156242C= (n.8370+156242C=) | |
2 | g.108929288C>G | CA348115727 | EDAR,RANBP2 | c.266G>C (p.Arg89Pro) c.317G>C (p.Arg106Pro) c.410G>C (p.Arg137Pro) c.8370+156242C>G (n.8370+156242C>G) | |
2 | g.108929288C>T | CA130257 | EDAR,RANBP2 | c.266G>A (p.Arg89His) c.317G>A (p.Arg106His) c.410G>A (p.Arg137His) c.8370+156242C>T (n.8370+156242C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929289G>A | CA1825141 | EDAR,RANBP2 | c.265C>T (p.Arg89Cys) c.316C>T (p.Arg106Cys) c.409C>T (p.Arg137Cys) c.8370+156243G>A (n.8370+156243G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.108929289G>C | CA348115728 | EDAR,RANBP2 | c.265C>G (p.Arg89Gly) c.316C>G (p.Arg106Gly) c.409C>G (p.Arg137Gly) c.8370+156243G>C (n.8370+156243G>C) | |
2 | g.108929289G= | CA1278368555 | EDAR,RANBP2 | c.265C= (p.Arg89=) c.316C= (p.Arg106=) c.409C= (p.Arg137=) c.8370+156243G= (n.8370+156243G=) | |
2 | g.108929289G>T | CA54012146 | EDAR,RANBP2 | c.265C>A (p.Arg89Ser) c.316C>A (p.Arg106Ser) c.409C>A (p.Arg137Ser) c.8370+156243G>T (n.8370+156243G>T) | dbSNP gnomAD v4 |
2 | g.108929290C>A | CA348115730 | EDAR,RANBP2 | c.264G>T (p.Arg88Ser) c.315G>T (p.Arg105Ser) c.408G>T (p.Arg136Ser) c.8370+156244C>A (n.8370+156244C>A) | |
2 | g.108929290C>G | CA348115729 | EDAR,RANBP2 | c.264G>C (p.Arg88Ser) c.315G>C (p.Arg105Ser) c.408G>C (p.Arg136Ser) c.8370+156244C>G (n.8370+156244C>G) | |
2 | g.108929290C>T | CA428086850 | EDAR,RANBP2 | c.264G>A (p.Arg88=) c.315G>A (p.Arg105=) c.408G>A (p.Arg136=) c.8370+156244C>T (n.8370+156244C>T) | |
2 | g.108929291C>A | CA348115731 | EDAR,RANBP2 | c.263G>T (p.Arg88Met) c.314G>T (p.Arg105Met) c.407G>T (p.Arg136Met) c.8370+156245C>A (n.8370+156245C>A) | |
2 | g.108929291C>G | CA348115732 | EDAR,RANBP2 | c.263G>C (p.Arg88Thr) c.314G>C (p.Arg105Thr) c.407G>C (p.Arg136Thr) c.8370+156245C>G (n.8370+156245C>G) | |
2 | g.108929291C>T | CA348115733 | EDAR,RANBP2 | c.263G>A (p.Arg88Lys) c.314G>A (p.Arg105Lys) c.407G>A (p.Arg136Lys) c.8370+156245C>T (n.8370+156245C>T) | |
2 | g.108929292T>A | CA348115734 | EDAR,RANBP2 | c.262A>T (p.Arg88Trp) c.313A>T (p.Arg105Trp) c.406A>T (p.Arg136Trp) c.8370+156246T>A (n.8370+156246T>A) | |
2 | g.108929292T>C | CA348115735 | EDAR,RANBP2 | c.262A>G (p.Arg88Gly) c.313A>G (p.Arg105Gly) c.406A>G (p.Arg136Gly) c.8370+156246T>C (n.8370+156246T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108929292T>G | CA428086851 | EDAR,RANBP2 | c.262A>C (p.Arg88=) c.313A>C (p.Arg105=) c.406A>C (p.Arg136=) c.8370+156246T>G (n.8370+156246T>G) | |
2 | g.108929292T= | CA1278368556 | EDAR,RANBP2 | c.262A= (p.Arg88=) c.313A= (p.Arg105=) c.406A= (p.Arg136=) c.8370+156246T= (n.8370+156246T=) | |
2 | g.108929293G>A | CA428086852 | EDAR,RANBP2 | c.261C>T (p.Cys87=) c.312C>T (p.Cys104=) c.405C>T (p.Cys135=) c.8370+156247G>A (n.8370+156247G>A) | |
2 | g.108929293G>C | CA348115736 | EDAR,RANBP2 | c.261C>G (p.Cys87Trp) c.312C>G (p.Cys104Trp) c.405C>G (p.Cys135Trp) c.8370+156247G>C (n.8370+156247G>C) | |
2 | g.108929293G>T | CA348115737 | EDAR,RANBP2 | c.261C>A (p.Cys87Ter) c.312C>A (p.Cys104Ter) c.405C>A (p.Cys135Ter) c.8370+156247G>T (n.8370+156247G>T) | |
2 | g.108929294C>A | CA348115738 | EDAR,RANBP2 | c.260G>T (p.Cys87Phe) c.311G>T (p.Cys104Phe) c.404G>T (p.Cys135Phe) c.8370+156248C>A (n.8370+156248C>A) | |
2 | g.108929294C>G | CA348115740 | EDAR,RANBP2 | c.260G>C (p.Cys87Ser) c.311G>C (p.Cys104Ser) c.404G>C (p.Cys135Ser) c.8370+156248C>G (n.8370+156248C>G) | |
2 | g.108929294C>T | CA348115739 | EDAR,RANBP2 | c.260G>A (p.Cys87Tyr) c.311G>A (p.Cys104Tyr) c.404G>A (p.Cys135Tyr) c.8370+156248C>T (n.8370+156248C>T) | |
2 | g.108929295A= | CA1278368557 | EDAR,RANBP2 | c.259T= (p.Cys87=) c.310T= (p.Cys104=) c.403T= (p.Cys135=) c.8370+156249A= (n.8370+156249A=) | |
2 | g.108929295A>C | CA348115741 | EDAR,RANBP2 | c.259T>G (p.Cys87Gly) c.310T>G (p.Cys104Gly) c.403T>G (p.Cys135Gly) c.8370+156249A>C (n.8370+156249A>C) | ClinVar |
2 | g.108929295A>G | CA253629 | EDAR,RANBP2 | c.259T>C (p.Cys87Arg) c.310T>C (p.Cys104Arg) c.403T>C (p.Cys135Arg) c.8370+156249A>G (n.8370+156249A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929295A>T | CA348115742 | EDAR,RANBP2 | c.259T>A (p.Cys87Ser) c.310T>A (p.Cys104Ser) c.403T>A (p.Cys135Ser) c.8370+156249A>T (n.8370+156249A>T) | |
2 | g.108929296T>A | CA428086853 | EDAR,RANBP2 | c.258A>T (p.Ile86=) c.309A>T (p.Ile103=) c.402A>T (p.Ile134=) c.8370+156250T>A (n.8370+156250T>A) | |
2 | g.108929296T>C | CA348115743 | EDAR,RANBP2 | c.258A>G (p.Ile86Met) c.309A>G (p.Ile103Met) c.402A>G (p.Ile134Met) c.8370+156250T>C (n.8370+156250T>C) | |
2 | g.108929296T>G | CA428086854 | EDAR,RANBP2 | c.258A>C (p.Ile86=) c.309A>C (p.Ile103=) c.402A>C (p.Ile134=) c.8370+156250T>G (n.8370+156250T>G) | |
2 | g.108929297A>C | CA348115744 | EDAR,RANBP2 | c.257T>G (p.Ile86Arg) c.308T>G (p.Ile103Arg) c.401T>G (p.Ile134Arg) c.8370+156251A>C (n.8370+156251A>C) | |
2 | g.108929297A>G | CA348115746 | EDAR,RANBP2 | c.257T>C (p.Ile86Thr) c.308T>C (p.Ile103Thr) c.401T>C (p.Ile134Thr) c.8370+156251A>G (n.8370+156251A>G) | |
2 | g.108929297A>T | CA348115745 | EDAR,RANBP2 | c.257T>A (p.Ile86Lys) c.308T>A (p.Ile103Lys) c.401T>A (p.Ile134Lys) c.8370+156251A>T (n.8370+156251A>T) | |
2 | g.108929298T>A | CA348115747 | EDAR,RANBP2 | c.256A>T (p.Ile86Leu) c.307A>T (p.Ile103Leu) c.400A>T (p.Ile134Leu) c.8370+156252T>A (n.8370+156252T>A) | |
2 | g.108929298T>C | CA348115748 | EDAR,RANBP2 | c.256A>G (p.Ile86Val) c.307A>G (p.Ile103Val) c.400A>G (p.Ile134Val) c.8370+156252T>C (n.8370+156252T>C) | |
2 | g.108929298T>G | CA348115749 | EDAR,RANBP2 | c.256A>C (p.Ile86Leu) c.307A>C (p.Ile103Leu) c.400A>C (p.Ile134Leu) c.8370+156252T>G (n.8370+156252T>G) | gnomAD v4 |
2 | g.108929299C>A | CA348115750 | EDAR,RANBP2 | c.255G>T (p.Gln85His) c.306G>T (p.Gln102His) c.399G>T (p.Gln133His) c.8370+156253C>A (n.8370+156253C>A) | gnomAD v4 |
2 | g.108929299C>G | CA348115751 | EDAR,RANBP2 | c.255G>C (p.Gln85His) c.306G>C (p.Gln102His) c.399G>C (p.Gln133His) c.8370+156253C>G (n.8370+156253C>G) | |
2 | g.108929299C>T | CA428086855 | EDAR,RANBP2 | c.255G>A (p.Gln85=) c.306G>A (p.Gln102=) c.399G>A (p.Gln133=) c.8370+156253C>T (n.8370+156253C>T) | |
2 | g.108929300T>A | CA348115752 | EDAR,RANBP2 | c.254A>T (p.Gln85Leu) c.305A>T (p.Gln102Leu) c.398A>T (p.Gln133Leu) c.8370+156254T>A (n.8370+156254T>A) | |
2 | g.108929300T>C | CA348115753 | EDAR,RANBP2 | c.254A>G (p.Gln85Arg) c.305A>G (p.Gln102Arg) c.398A>G (p.Gln133Arg) c.8370+156254T>C (n.8370+156254T>C) | |
2 | g.108929300T>G | CA348115754 | EDAR,RANBP2 | c.254A>C (p.Gln85Pro) c.305A>C (p.Gln102Pro) c.398A>C (p.Gln133Pro) c.8370+156254T>G (n.8370+156254T>G) | |
2 | g.108929301G>A | CA348115755 | EDAR,RANBP2 | c.253C>T (p.Gln85Ter) c.304C>T (p.Gln102Ter) c.397C>T (p.Gln133Ter) c.8370+156255G>A (n.8370+156255G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108929301G>C | CA348115756 | EDAR,RANBP2 | c.253C>G (p.Gln85Glu) c.304C>G (p.Gln102Glu) c.397C>G (p.Gln133Glu) c.8370+156255G>C (n.8370+156255G>C) | |
2 | g.108929301G= | CA1278368558 | EDAR,RANBP2 | c.253C= (p.Gln85=) c.304C= (p.Gln102=) c.397C= (p.Gln133=) c.8370+156255G= (n.8370+156255G=) | |
2 | g.108929301G>T | CA348115757 | EDAR,RANBP2 | c.253C>A (p.Gln85Lys) c.304C>A (p.Gln102Lys) c.397C>A (p.Gln133Lys) c.8370+156255G>T (n.8370+156255G>T) | |
2 | g.108929302G>A | CA428086856 | EDAR,RANBP2 | c.252C>T (p.Tyr84=) c.303C>T (p.Tyr101=) c.396C>T (p.Tyr132=) c.8370+156256G>A (n.8370+156256G>A) | |
2 | g.108929302G>C | CA348115758 | EDAR,RANBP2 | c.252C>G (p.Tyr84Ter) c.303C>G (p.Tyr101Ter) c.396C>G (p.Tyr132Ter) c.8370+156256G>C (n.8370+156256G>C) | |
2 | g.108929302G>T | CA348115759 | EDAR,RANBP2 | c.252C>A (p.Tyr84Ter) c.303C>A (p.Tyr101Ter) c.396C>A (p.Tyr132Ter) c.8370+156256G>T (n.8370+156256G>T) | |
2 | g.108929303T>A | CA348115762 | EDAR,RANBP2 | c.251A>T (p.Tyr84Phe) c.302A>T (p.Tyr101Phe) c.395A>T (p.Tyr132Phe) c.8370+156257T>A (n.8370+156257T>A) | |
2 | g.108929303T>C | CA348115760 | EDAR,RANBP2 | c.251A>G (p.Tyr84Cys) c.302A>G (p.Tyr101Cys) c.395A>G (p.Tyr132Cys) c.8370+156257T>C (n.8370+156257T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108929303T>G | CA348115761 | EDAR,RANBP2 | c.251A>C (p.Tyr84Ser) c.302A>C (p.Tyr101Ser) c.395A>C (p.Tyr132Ser) c.8370+156257T>G (n.8370+156257T>G) | |
2 | g.108929303T= | CA1278368559 | EDAR,RANBP2 | c.251A= (p.Tyr84=) c.302A= (p.Tyr101=) c.395A= (p.Tyr132=) c.8370+156257T= (n.8370+156257T=) | |
2 | g.108929304A>C | CA348115763 | EDAR,RANBP2 | c.250T>G (p.Tyr84Asp) c.301T>G (p.Tyr101Asp) c.394T>G (p.Tyr132Asp) c.8370+156258A>C (n.8370+156258A>C) | |
2 | g.108929304A>G | CA348115764 | EDAR,RANBP2 | c.250T>C (p.Tyr84His) c.301T>C (p.Tyr101His) c.394T>C (p.Tyr132His) c.8370+156258A>G (n.8370+156258A>G) | |
2 | g.108929304A>T | CA348115765 | EDAR,RANBP2 | c.250T>A (p.Tyr84Asn) c.301T>A (p.Tyr101Asn) c.394T>A (p.Tyr132Asn) c.8370+156258A>T (n.8370+156258A>T) | |
2 | g.108929305G>A | CA428086857 | EDAR,RANBP2 | c.249C>T (p.Gly83=) c.300C>T (p.Gly100=) c.393C>T (p.Gly131=) c.8370+156259G>A (n.8370+156259G>A) | |
2 | g.108929305G>C | CA428086859 | EDAR,RANBP2 | c.249C>G (p.Gly83=) c.300C>G (p.Gly100=) c.393C>G (p.Gly131=) c.8370+156259G>C (n.8370+156259G>C) | |
2 | g.108929305G>T | CA428086858 | EDAR,RANBP2 | c.249C>A (p.Gly83=) c.300C>A (p.Gly100=) c.393C>A (p.Gly131=) c.8370+156259G>T (n.8370+156259G>T) | |
2 | g.108929306C>A | CA348115766 | EDAR,RANBP2 | c.248G>T (p.Gly83Val) c.299G>T (p.Gly100Val) c.392G>T (p.Gly131Val) c.8370+156260C>A (n.8370+156260C>A) | |
2 | g.108929306C= | CA1278368560 | EDAR,RANBP2 | c.248G= (p.Gly83=) c.299G= (p.Gly100=) c.392G= (p.Gly131=) c.8370+156260C= (n.8370+156260C=) | |
2 | g.108929306C>G | CA348115767 | EDAR,RANBP2 | c.248G>C (p.Gly83Ala) c.299G>C (p.Gly100Ala) c.392G>C (p.Gly131Ala) c.8370+156260C>G (n.8370+156260C>G) | |
2 | g.108929306C>T | CA54012147 | EDAR,RANBP2 | c.248G>A (p.Gly83Asp) c.299G>A (p.Gly100Asp) c.392G>A (p.Gly131Asp) c.8370+156260C>T (n.8370+156260C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108929307C>A | CA348115768 | EDAR,RANBP2 | c.247G>T (p.Gly83Cys) c.298G>T (p.Gly100Cys) c.391G>T (p.Gly131Cys) c.8370+156261C>A (n.8370+156261C>A) | dbSNP |
2 | g.108929307C= | CA1278368561 | EDAR,RANBP2 | c.247G= (p.Gly83=) c.298G= (p.Gly100=) c.391G= (p.Gly131=) c.8370+156261C= (n.8370+156261C=) | |
2 | g.108929307C>G | CA348115769 | EDAR,RANBP2 | c.247G>C (p.Gly83Arg) c.298G>C (p.Gly100Arg) c.391G>C (p.Gly131Arg) c.8370+156261C>G (n.8370+156261C>G) | |
2 | g.108929307C>T | CA348115770 | EDAR,RANBP2 | c.247G>A (p.Gly83Ser) c.298G>A (p.Gly100Ser) c.391G>A (p.Gly131Ser) c.8370+156261C>T (n.8370+156261C>T) | dbSNP |
2 | g.108929308T>A | CA428086860 | EDAR,RANBP2 | c.246A>T (p.Gly82=) c.297A>T (p.Gly99=) c.390A>T (p.Gly130=) c.8370+156262T>A (n.8370+156262T>A) | |
2 | g.108929308T>C | CA428086861 | EDAR,RANBP2 | c.246A>G (p.Gly82=) c.297A>G (p.Gly99=) c.390A>G (p.Gly130=) c.8370+156262T>C (n.8370+156262T>C) | |
2 | g.108929308T>G | CA428086862 | EDAR,RANBP2 | c.246A>C (p.Gly82=) c.297A>C (p.Gly99=) c.390A>C (p.Gly130=) c.8370+156262T>G (n.8370+156262T>G) | |
2 | g.108929309C>A | CA348115771 | EDAR,RANBP2 | c.245G>T (p.Gly82Val) c.296G>T (p.Gly99Val) c.389G>T (p.Gly130Val) c.8370+156263C>A (n.8370+156263C>A) | |
2 | g.108929309C>G | CA348115772 | EDAR,RANBP2 | c.245G>C (p.Gly82Ala) c.296G>C (p.Gly99Ala) c.389G>C (p.Gly130Ala) c.8370+156263C>G (n.8370+156263C>G) | |
2 | g.108929309C>T | CA348115773 | EDAR,RANBP2 | c.245G>A (p.Gly82Glu) c.296G>A (p.Gly99Glu) c.389G>A (p.Gly130Glu) c.8370+156263C>T (n.8370+156263C>T) | |
2 | g.108929310C>A | CA348115775 | EDAR,RANBP2 | c.244G>T (p.Gly82Ter) c.295G>T (p.Gly99Ter) c.388G>T (p.Gly130Ter) c.8370+156264C>A (n.8370+156264C>A) | COSMIC COSMIC |
2 | g.108929310C>G | CA348115776 | EDAR,RANBP2 | c.244G>C (p.Gly82Arg) c.295G>C (p.Gly99Arg) c.388G>C (p.Gly130Arg) c.8370+156264C>G (n.8370+156264C>G) | |
2 | g.108929310C>T | CA348115774 | EDAR,RANBP2 | c.244G>A (p.Gly82Arg) c.295G>A (p.Gly99Arg) c.388G>A (p.Gly130Arg) c.8370+156264C>T (n.8370+156264C>T) | |
2 | g.108929311T>A | CA348115777 | EDAR,RANBP2 | c.243A>T (p.Lys81Asn) c.294A>T (p.Lys98Asn) c.387A>T (p.Lys129Asn) c.8370+156265T>A (n.8370+156265T>A) | dbSNP gnomAD v4 |
2 | g.108929311T>C | CA1825142 | EDAR,RANBP2 | c.243A>G (p.Lys81=) c.294A>G (p.Lys98=) c.387A>G (p.Lys129=) c.8370+156265T>C (n.8370+156265T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929311T>G | CA348115778 | EDAR,RANBP2 | c.243A>C (p.Lys81Asn) c.294A>C (p.Lys98Asn) c.387A>C (p.Lys129Asn) c.8370+156265T>G (n.8370+156265T>G) | |
2 | g.108929311T= | CA1278368562 | EDAR,RANBP2 | c.243A= (p.Lys81=) c.294A= (p.Lys98=) c.387A= (p.Lys129=) c.8370+156265T= (n.8370+156265T=) | |
2 | g.108929312T>A | CA348115779 | EDAR,RANBP2 | c.242A>T (p.Lys81Ile) c.293A>T (p.Lys98Ile) c.386A>T (p.Lys129Ile) c.8370+156266T>A (n.8370+156266T>A) | |
2 | g.108929312T>C | CA54012148 | EDAR,RANBP2 | c.242A>G (p.Lys81Arg) c.293A>G (p.Lys98Arg) c.386A>G (p.Lys129Arg) c.8370+156266T>C (n.8370+156266T>C) | dbSNP |
2 | g.108929312T>G | CA348115780 | EDAR,RANBP2 | c.242A>C (p.Lys81Thr) c.293A>C (p.Lys98Thr) c.386A>C (p.Lys129Thr) c.8370+156266T>G (n.8370+156266T>G) | |
2 | g.108929312T= | CA1278368563 | EDAR,RANBP2 | c.242A= (p.Lys81=) c.293A= (p.Lys98=) c.386A= (p.Lys129=) c.8370+156266T= (n.8370+156266T=) | |
2 | g.108929313T>A | CA348115781 | EDAR,RANBP2 | c.241A>T (p.Lys81Ter) c.292A>T (p.Lys98Ter) c.385A>T (p.Lys129Ter) c.8370+156267T>A (n.8370+156267T>A) | |
2 | g.108929313T>C | CA348115782 | EDAR,RANBP2 | c.241A>G (p.Lys81Glu) c.292A>G (p.Lys98Glu) c.385A>G (p.Lys129Glu) c.8370+156267T>C (n.8370+156267T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108929313T>G | CA348115783 | EDAR,RANBP2 | c.241A>C (p.Lys81Gln) c.292A>C (p.Lys98Gln) c.385A>C (p.Lys129Gln) c.8370+156267T>G (n.8370+156267T>G) | |
2 | g.108929313T= | CA1278368564 | EDAR,RANBP2 | c.241A= (p.Lys81=) c.292A= (p.Lys98=) c.385A= (p.Lys129=) c.8370+156267T= (n.8370+156267T=) | |
2 | g.108929314G>A | CA428086864 | EDAR,RANBP2 | c.240C>T (p.Ser80=) c.291C>T (p.Ser97=) c.384C>T (p.Ser128=) c.8370+156268G>A (n.8370+156268G>A) | |
2 | g.108929314G>C | CA428086865 | EDAR,RANBP2 | c.240C>G (p.Ser80=) c.291C>G (p.Ser97=) c.384C>G (p.Ser128=) c.8370+156268G>C (n.8370+156268G>C) | |
2 | g.108929314G>T | CA428086863 | EDAR,RANBP2 | c.240C>A (p.Ser80=) c.291C>A (p.Ser97=) c.384C>A (p.Ser128=) c.8370+156268G>T (n.8370+156268G>T) | |
2 | g.108929315G>A | CA348115784 | EDAR,RANBP2 | c.239C>T (p.Ser80Phe) c.290C>T (p.Ser97Phe) c.383C>T (p.Ser128Phe) c.8370+156269G>A (n.8370+156269G>A) | gnomAD v4 COSMIC COSMIC |
2 | g.108929315G>C | CA348115785 | EDAR,RANBP2 | c.239C>G (p.Ser80Cys) c.290C>G (p.Ser97Cys) c.383C>G (p.Ser128Cys) c.8370+156269G>C (n.8370+156269G>C) | |
2 | g.108929315G>T | CA348115786 | EDAR,RANBP2 | c.239C>A (p.Ser80Tyr) c.290C>A (p.Ser97Tyr) c.383C>A (p.Ser128Tyr) c.8370+156269G>T (n.8370+156269G>T) | |
2 | g.108929316A>C | CA348115787 | EDAR,RANBP2 | c.238T>G (p.Ser80Ala) c.289T>G (p.Ser97Ala) c.382T>G (p.Ser128Ala) c.8370+156270A>C (n.8370+156270A>C) | |
2 | g.108929316A>G | CA348115788 | EDAR,RANBP2 | c.238T>C (p.Ser80Pro) c.289T>C (p.Ser97Pro) c.382T>C (p.Ser128Pro) c.8370+156270A>G (n.8370+156270A>G) | |
2 | g.108929316A>T | CA348115789 | EDAR,RANBP2 | c.238T>A (p.Ser80Thr) c.289T>A (p.Ser97Thr) c.382T>A (p.Ser128Thr) c.8370+156270A>T (n.8370+156270A>T) | |
2 | g.108929317A= | CA1278368565 | EDAR,RANBP2 | c.237T= (p.Phe79=) c.288T= (p.Phe96=) c.381T= (p.Phe127=) c.8370+156271A= (n.8370+156271A=) | |
2 | g.108929317A>C | CA348115790 | EDAR,RANBP2 | c.237T>G (p.Phe79Leu) c.288T>G (p.Phe96Leu) c.381T>G (p.Phe127Leu) c.8370+156271A>C (n.8370+156271A>C) | |
2 | g.108929317A>G | CA428086866 | EDAR,RANBP2 | c.237T>C (p.Phe79=) c.288T>C (p.Phe96=) c.381T>C (p.Phe127=) c.8370+156271A>G (n.8370+156271A>G) | dbSNP |
2 | g.108929317A>T | CA348115791 | EDAR,RANBP2 | c.237T>A (p.Phe79Leu) c.288T>A (p.Phe96Leu) c.381T>A (p.Phe127Leu) c.8370+156271A>T (n.8370+156271A>T) | |
2 | g.108929318A>C | CA348115792 | EDAR,RANBP2 | c.236T>G (p.Phe79Cys) c.287T>G (p.Phe96Cys) c.380T>G (p.Phe127Cys) c.8370+156272A>C (n.8370+156272A>C) | |
2 | g.108929318A>G | CA348115793 | EDAR,RANBP2 | c.236T>C (p.Phe79Ser) c.287T>C (p.Phe96Ser) c.380T>C (p.Phe127Ser) c.8370+156272A>G (n.8370+156272A>G) | |
2 | g.108929318A>T | CA348115794 | EDAR,RANBP2 | c.236T>A (p.Phe79Tyr) c.287T>A (p.Phe96Tyr) c.380T>A (p.Phe127Tyr) c.8370+156272A>T (n.8370+156272A>T) | |
2 | g.108929319A>C | CA348115795 | EDAR,RANBP2 | c.235T>G (p.Phe79Val) c.286T>G (p.Phe96Val) c.379T>G (p.Phe127Val) c.8370+156273A>C (n.8370+156273A>C) | |
2 | g.108929319A>G | CA348115796 | EDAR,RANBP2 | c.235T>C (p.Phe79Leu) c.286T>C (p.Phe96Leu) c.379T>C (p.Phe127Leu) c.8370+156273A>G (n.8370+156273A>G) | |
2 | g.108929319A>T | CA348115797 | EDAR,RANBP2 | c.235T>A (p.Phe79Ile) c.286T>A (p.Phe96Ile) c.379T>A (p.Phe127Ile) c.8370+156273A>T (n.8370+156273A>T) | |
2 | g.108929319_108929322delinsACTT | CA1278368566 | EDAR,RANBP2 | c.232_235delinsAAGT (p.Lys78=) c.283_286delinsAAGT (p.Lys95=) c.376_379delinsAAGT (p.Lys126=) c.8370+156273_8370+156276delinsACTT (n.8370+156273_8370+156276delinsACTT) | |
2 | g.108929320C>A | CA348115799 | EDAR,RANBP2 | c.234G>T (p.Lys78Asn) c.285G>T (p.Lys95Asn) c.378G>T (p.Lys126Asn) c.8370+156274C>A (n.8370+156274C>A) | |
2 | g.108929320C>G | CA348115798 | EDAR,RANBP2 | c.234G>C (p.Lys78Asn) c.285G>C (p.Lys95Asn) c.378G>C (p.Lys126Asn) c.8370+156274C>G (n.8370+156274C>G) | |
2 | g.108929320C>T | CA428086867 | EDAR,RANBP2 | c.234G>A (p.Lys78=) c.285G>A (p.Lys95=) c.378G>A (p.Lys126=) c.8370+156274C>T (n.8370+156274C>T) | gnomAD v4 |
2 | g.108929322_108929324del | CA535597401 | EDAR,RANBP2 | c.232_234del (p.Lys78del) c.283_285del (p.Lys95del) c.376_378del (p.Lys126del) c.8370+156276_8370+156278del (n.8370+156276_8370+156278del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108929321T>A | CA348115800 | EDAR,RANBP2 | c.233A>T (p.Lys78Met) c.284A>T (p.Lys95Met) c.377A>T (p.Lys126Met) c.8370+156275T>A (n.8370+156275T>A) | |
2 | g.108929321T>C | CA348115801 | EDAR,RANBP2 | c.233A>G (p.Lys78Arg) c.284A>G (p.Lys95Arg) c.377A>G (p.Lys126Arg) c.8370+156275T>C (n.8370+156275T>C) | dbSNP |
2 | g.108929321T>G | CA348115802 | EDAR,RANBP2 | c.233A>C (p.Lys78Thr) c.284A>C (p.Lys95Thr) c.377A>C (p.Lys126Thr) c.8370+156275T>G (n.8370+156275T>G) | |
2 | g.108929321T= | CA1278368567 | EDAR,RANBP2 | c.233A= (p.Lys78=) c.284A= (p.Lys95=) c.377A= (p.Lys126=) c.8370+156275T= (n.8370+156275T=) | |
2 | g.108929322T>A | CA348115803 | EDAR,RANBP2 | c.232A>T (p.Lys78Ter) c.283A>T (p.Lys95Ter) c.376A>T (p.Lys126Ter) c.8370+156276T>A (n.8370+156276T>A) | |
2 | g.108929322T>C | CA1825143 | EDAR,RANBP2 | c.232A>G (p.Lys78Glu) c.283A>G (p.Lys95Glu) c.376A>G (p.Lys126Glu) c.8370+156276T>C (n.8370+156276T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929322T>G | CA348115804 | EDAR,RANBP2 | c.232A>C (p.Lys78Gln) c.283A>C (p.Lys95Gln) c.376A>C (p.Lys126Gln) c.8370+156276T>G (n.8370+156276T>G) | |
2 | g.108929322T= | CA1278368568 | EDAR,RANBP2 | c.232A= (p.Lys78=) c.283A= (p.Lys95=) c.376A= (p.Lys126=) c.8370+156276T= (n.8370+156276T=) | |
2 | g.108929322_108929325delinsTCTC | CA1278368569 | EDAR,RANBP2 | c.229_232delinsGAGA (p.Glu77=) c.280_283delinsGAGA (p.Glu94=) c.373_376delinsGAGA (p.Glu125=) c.8370+156276_8370+156279delinsTCTC (n.8370+156276_8370+156279delinsTCTC) | |
2 | g.108929323C>A | CA348115805 | EDAR,RANBP2 | c.231G>T (p.Glu77Asp) c.282G>T (p.Glu94Asp) c.375G>T (p.Glu125Asp) c.8370+156277C>A (n.8370+156277C>A) | COSMIC COSMIC |
2 | g.108929323C>G | CA348115806 | EDAR,RANBP2 | c.231G>C (p.Glu77Asp) c.282G>C (p.Glu94Asp) c.375G>C (p.Glu125Asp) c.8370+156277C>G (n.8370+156277C>G) | COSMIC COSMIC |
2 | g.108929323C>T | CA428086868 | EDAR,RANBP2 | c.231G>A (p.Glu77=) c.282G>A (p.Glu94=) c.375G>A (p.Glu125=) c.8370+156277C>T (n.8370+156277C>T) | |
2 | g.108929324_108929326del | CA54012149 | EDAR,RANBP2 | c.229_231del (p.Glu77del) c.280_282del (p.Glu94del) c.373_375del (p.Glu125del) c.8370+156278_8370+156280del (n.8370+156278_8370+156280del) | dbSNP |
2 | g.108929324T>A | CA348115807 | EDAR,RANBP2 | c.230A>T (p.Glu77Val) c.281A>T (p.Glu94Val) c.374A>T (p.Glu125Val) c.8370+156278T>A (n.8370+156278T>A) | |
2 | g.108929324T>C | CA348115808 | EDAR,RANBP2 | c.230A>G (p.Glu77Gly) c.281A>G (p.Glu94Gly) c.374A>G (p.Glu125Gly) c.8370+156278T>C (n.8370+156278T>C) | gnomAD v4 |
2 | g.108929324T>G | CA348115809 | EDAR,RANBP2 | c.230A>C (p.Glu77Ala) c.281A>C (p.Glu94Ala) c.374A>C (p.Glu125Ala) c.8370+156278T>G (n.8370+156278T>G) | |
2 | g.108929325C>A | CA348115810 | EDAR,RANBP2 | c.229G>T (p.Glu77Ter) c.280G>T (p.Glu94Ter) c.373G>T (p.Glu125Ter) c.8370+156279C>A (n.8370+156279C>A) | |
2 | g.108929325C>G | CA348115811 | EDAR,RANBP2 | c.229G>C (p.Glu77Gln) c.280G>C (p.Glu94Gln) c.373G>C (p.Glu125Gln) c.8370+156279C>G (n.8370+156279C>G) | |
2 | g.108929325C>T | CA348115812 | EDAR,RANBP2 | c.229G>A (p.Glu77Lys) c.280G>A (p.Glu94Lys) c.373G>A (p.Glu125Lys) c.8370+156279C>T (n.8370+156279C>T) | |
2 | g.108929326C>A | CA428086869 | EDAR,RANBP2 | c.228G>T (p.Ala76=) c.279G>T (p.Ala93=) c.372G>T (p.Ala124=) c.8370+156280C>A (n.8370+156280C>A) | |
2 | g.108929326C= | CA1278368570 | EDAR,RANBP2 | c.228G= (p.Ala76=) c.279G= (p.Ala93=) c.372G= (p.Ala124=) c.8370+156280C= (n.8370+156280C=) | |
2 | g.108929326C>G | CA428086870 | EDAR,RANBP2 | c.228G>C (p.Ala76=) c.279G>C (p.Ala93=) c.372G>C (p.Ala124=) c.8370+156280C>G (n.8370+156280C>G) | |
2 | g.108929326C>T | CA1825144 | EDAR,RANBP2 | c.228G>A (p.Ala76=) c.279G>A (p.Ala93=) c.372G>A (p.Ala124=) c.8370+156280C>T (n.8370+156280C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108929326_108929327delinsCG | CA1278368571 | EDAR,RANBP2 | c.227_228delinsCG (p.Ala76=) c.278_279delinsCG (p.Ala93=) c.371_372delinsCG (p.Ala124=) c.8370+156280_8370+156281delinsCG (n.8370+156280_8370+156281delinsCG) | |
2 | g.108929327del | CA54012150 | EDAR,RANBP2 | c.227del (p.Ala76GlyfsTer27) c.278del (p.Ala93GlyfsTer27) c.371del (p.Ala124GlyfsTer27) c.8370+156281del (n.8370+156281del) | dbSNP gnomAD v4 |
2 | g.108929327G>A | CA1825145 | EDAR,RANBP2 | c.227C>T (p.Ala76Val) c.278C>T (p.Ala93Val) c.371C>T (p.Ala124Val) c.8370+156281G>A (n.8370+156281G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929327G>C | CA348115813 | EDAR,RANBP2 | c.227C>G (p.Ala76Gly) c.278C>G (p.Ala93Gly) c.371C>G (p.Ala124Gly) c.8370+156281G>C (n.8370+156281G>C) | |
2 | g.108929327G= | CA1278368572 | EDAR,RANBP2 | c.227C= (p.Ala76=) c.278C= (p.Ala93=) c.371C= (p.Ala124=) c.8370+156281G= (n.8370+156281G=) | |
2 | g.108929327G>T | CA54012151 | EDAR,RANBP2 | c.227C>A (p.Ala76Glu) c.278C>A (p.Ala93Glu) c.371C>A (p.Ala124Glu) c.8370+156281G>T (n.8370+156281G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108929328C>A | CA348115814 | EDAR,RANBP2 | c.226G>T (p.Ala76Ser) c.277G>T (p.Ala93Ser) c.370G>T (p.Ala124Ser) c.8370+156282C>A (n.8370+156282C>A) | |
2 | g.108929328C>G | CA348115815 | EDAR,RANBP2 | c.226G>C (p.Ala76Pro) c.277G>C (p.Ala93Pro) c.370G>C (p.Ala124Pro) c.8370+156282C>G (n.8370+156282C>G) | |
2 | g.108929328C>T | CA348115816 | EDAR,RANBP2 | c.226G>A (p.Ala76Thr) c.277G>A (p.Ala93Thr) c.370G>A (p.Ala124Thr) c.8370+156282C>T (n.8370+156282C>T) | |
2 | g.108929329C>A | CA428086871 | EDAR,RANBP2 | c.225G>T (p.Pro75=) c.276G>T (p.Pro92=) c.369G>T (p.Pro123=) c.8370+156283C>A (n.8370+156283C>A) | |
2 | g.108929329C= | CA1278368573 | EDAR,RANBP2 | c.225G= (p.Pro75=) c.276G= (p.Pro92=) c.369G= (p.Pro123=) c.8370+156283C= (n.8370+156283C=) | |
2 | g.108929329C>G | CA428086872 | EDAR,RANBP2 | c.225G>C (p.Pro75=) c.276G>C (p.Pro92=) c.369G>C (p.Pro123=) c.8370+156283C>G (n.8370+156283C>G) | |
2 | g.108929329C>T | CA1825146 | EDAR,RANBP2 | c.225G>A (p.Pro75=) c.276G>A (p.Pro92=) c.369G>A (p.Pro123=) c.8370+156283C>T (n.8370+156283C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929330G>A | CA1825147 | EDAR,RANBP2 | c.224C>T (p.Pro75Leu) c.275C>T (p.Pro92Leu) c.368C>T (p.Pro123Leu) c.8370+156284G>A (n.8370+156284G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929330G>C | CA348115818 | EDAR,RANBP2 | c.224C>G (p.Pro75Arg) c.275C>G (p.Pro92Arg) c.368C>G (p.Pro123Arg) c.8370+156284G>C (n.8370+156284G>C) | |
2 | g.108929330G= | CA1278368574 | EDAR,RANBP2 | c.224C= (p.Pro75=) c.275C= (p.Pro92=) c.368C= (p.Pro123=) c.8370+156284G= (n.8370+156284G=) | |
2 | g.108929330G>T | CA348115817 | EDAR,RANBP2 | c.224C>A (p.Pro75Gln) c.275C>A (p.Pro92Gln) c.368C>A (p.Pro123Gln) c.8370+156284G>T (n.8370+156284G>T) | gnomAD v4 |
2 | g.108929331G>A | CA1825148 | EDAR,RANBP2 | c.223C>T (p.Pro75Ser) c.274C>T (p.Pro92Ser) c.367C>T (p.Pro123Ser) c.8370+156285G>A (n.8370+156285G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929331G>C | CA348115819 | EDAR,RANBP2 | c.223C>G (p.Pro75Ala) c.274C>G (p.Pro92Ala) c.367C>G (p.Pro123Ala) c.8370+156285G>C (n.8370+156285G>C) | |
2 | g.108929331G= | CA1278368575 | EDAR,RANBP2 | c.223C= (p.Pro75=) c.274C= (p.Pro92=) c.367C= (p.Pro123=) c.8370+156285G= (n.8370+156285G=) | |
2 | g.108929331G>T | CA348115820 | EDAR,RANBP2 | c.223C>A (p.Pro75Thr) c.274C>A (p.Pro92Thr) c.367C>A (p.Pro123Thr) c.8370+156285G>T (n.8370+156285G>T) | |
2 | g.108929332G>A | CA428086873 | EDAR,RANBP2 | c.222C>T (p.Cys74=) c.273C>T (p.Cys91=) c.366C>T (p.Cys122=) c.8370+156286G>A (n.8370+156286G>A) | |
2 | g.108929332G>C | CA348115821 | EDAR,RANBP2 | c.222C>G (p.Cys74Trp) c.273C>G (p.Cys91Trp) c.366C>G (p.Cys122Trp) c.8370+156286G>C (n.8370+156286G>C) | |
2 | g.108929332G= | CA1278368576 | EDAR,RANBP2 | c.222C= (p.Cys74=) c.273C= (p.Cys91=) c.366C= (p.Cys122=) c.8370+156286G= (n.8370+156286G=) | |
2 | g.108929332G>T | CA348115822 | EDAR,RANBP2 | c.222C>A (p.Cys74Ter) c.273C>A (p.Cys91Ter) c.366C>A (p.Cys122Ter) c.8370+156286G>T (n.8370+156286G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108929333C>A | CA348115823 | EDAR,RANBP2 | c.221G>T (p.Cys74Phe) c.272G>T (p.Cys91Phe) c.365G>T (p.Cys122Phe) c.8370+156287C>A (n.8370+156287C>A) | |
2 | g.108929333C>G | CA348115824 | EDAR,RANBP2 | c.221G>C (p.Cys74Ser) c.272G>C (p.Cys91Ser) c.365G>C (p.Cys122Ser) c.8370+156287C>G (n.8370+156287C>G) | |
2 | g.108929333C>T | CA348115825 | EDAR,RANBP2 | c.221G>A (p.Cys74Tyr) c.272G>A (p.Cys91Tyr) c.365G>A (p.Cys122Tyr) c.8370+156287C>T (n.8370+156287C>T) | |
2 | g.108929334A= | CA1278368577 | EDAR,RANBP2 | c.220T= (p.Cys74=) c.271T= (p.Cys91=) c.364T= (p.Cys122=) c.8370+156288A= (n.8370+156288A=) | |
2 | g.108929334A>C | CA348115826 | EDAR,RANBP2 | c.220T>G (p.Cys74Gly) c.271T>G (p.Cys91Gly) c.364T>G (p.Cys122Gly) c.8370+156288A>C (n.8370+156288A>C) | |
2 | g.108929334A>G | CA348115827 | EDAR,RANBP2 | c.220T>C (p.Cys74Arg) c.271T>C (p.Cys91Arg) c.364T>C (p.Cys122Arg) c.8370+156288A>G (n.8370+156288A>G) | dbSNP |
2 | g.108929334A>T | CA348115828 | EDAR,RANBP2 | c.220T>A (p.Cys74Ser) c.271T>A (p.Cys91Ser) c.364T>A (p.Cys122Ser) c.8370+156288A>T (n.8370+156288A>T) | gnomAD v4 |
2 | g.108929335G>A | CA428086874 | EDAR,RANBP2 | c.219C>T (p.Pro73=) c.270C>T (p.Pro90=) c.363C>T (p.Pro121=) c.8370+156289G>A (n.8370+156289G>A) | |
2 | g.108929335G>C | CA428086876 | EDAR,RANBP2 | c.219C>G (p.Pro73=) c.270C>G (p.Pro90=) c.363C>G (p.Pro121=) c.8370+156289G>C (n.8370+156289G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.108929335G= | CA1278368578 | EDAR,RANBP2 | c.219C= (p.Pro73=) c.270C= (p.Pro90=) c.363C= (p.Pro121=) c.8370+156289G= (n.8370+156289G=) | |
2 | g.108929335G>T | CA428086875 | EDAR,RANBP2 | c.219C>A (p.Pro73=) c.270C>A (p.Pro90=) c.363C>A (p.Pro121=) c.8370+156289G>T (n.8370+156289G>T) | |
2 | g.108929336G>A | CA348115831 | EDAR,RANBP2 | c.218C>T (p.Pro73Leu) c.269C>T (p.Pro90Leu) c.362C>T (p.Pro121Leu) c.8370+156290G>A (n.8370+156290G>A) | gnomAD v4 |
2 | g.108929336G>C | CA348115829 | EDAR,RANBP2 | c.218C>G (p.Pro73Arg) c.269C>G (p.Pro90Arg) c.362C>G (p.Pro121Arg) c.8370+156290G>C (n.8370+156290G>C) | |
2 | g.108929336G>T | CA348115830 | EDAR,RANBP2 | c.218C>A (p.Pro73His) c.269C>A (p.Pro90His) c.362C>A (p.Pro121His) c.8370+156290G>T (n.8370+156290G>T) | COSMIC COSMIC |
2 | g.108929337G>A | CA348115832 | EDAR,RANBP2 | c.217C>T (p.Pro73Ser) c.268C>T (p.Pro90Ser) c.361C>T (p.Pro121Ser) c.8370+156291G>A (n.8370+156291G>A) | |
2 | g.108929337G>C | CA348115833 | EDAR,RANBP2 | c.217C>G (p.Pro73Ala) c.268C>G (p.Pro90Ala) c.361C>G (p.Pro121Ala) c.8370+156291G>C (n.8370+156291G>C) | |
2 | g.108929337G>T | CA348115834 | EDAR,RANBP2 | c.217C>A (p.Pro73Thr) c.268C>A (p.Pro90Thr) c.361C>A (p.Pro121Thr) c.8370+156291G>T (n.8370+156291G>T) | |
2 | g.108929338G>A | CA428086877 | EDAR,RANBP2 | c.216C>T (p.Val72=) c.267C>T (p.Val89=) c.360C>T (p.Val120=) c.8370+156292G>A (n.8370+156292G>A) | |
2 | g.108929338G>C | CA428086878 | EDAR,RANBP2 | c.216C>G (p.Val72=) c.267C>G (p.Val89=) c.360C>G (p.Val120=) c.8370+156292G>C (n.8370+156292G>C) | dbSNP |
2 | g.108929338G= | CA1278368579 | EDAR,RANBP2 | c.216C= (p.Val72=) c.267C= (p.Val89=) c.360C= (p.Val120=) c.8370+156292G= (n.8370+156292G=) | |
2 | g.108929338G>T | CA428086880 | EDAR,RANBP2 | c.216C>A (p.Val72=) c.267C>A (p.Val89=) c.360C>A (p.Val120=) c.8370+156292G>T (n.8370+156292G>T) | |
2 | g.108929339A= | CA1278368580 | EDAR,RANBP2 | c.215T= (p.Val72=) c.266T= (p.Val89=) c.359T= (p.Val120=) c.8370+156293A= (n.8370+156293A=) | |
2 | g.108929339A>C | CA348115835 | EDAR,RANBP2 | c.215T>G (p.Val72Gly) c.266T>G (p.Val89Gly) c.359T>G (p.Val120Gly) c.8370+156293A>C (n.8370+156293A>C) | dbSNP |
2 | g.108929339A>G | CA348115836 | EDAR,RANBP2 | c.215T>C (p.Val72Ala) c.266T>C (p.Val89Ala) c.359T>C (p.Val120Ala) c.8370+156293A>G (n.8370+156293A>G) | |
2 | g.108929339A>T | CA348115837 | EDAR,RANBP2 | c.215T>A (p.Val72Asp) c.266T>A (p.Val89Asp) c.359T>A (p.Val120Asp) c.8370+156293A>T (n.8370+156293A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108929340C>A | CA348115838 | EDAR,RANBP2 | c.214G>T (p.Val72Phe) c.265G>T (p.Val89Phe) c.358G>T (p.Val120Phe) c.8370+156294C>A (n.8370+156294C>A) | |
2 | g.108929340C= | CA1278368581 | EDAR,RANBP2 | c.214G= (p.Val72=) c.265G= (p.Val89=) c.358G= (p.Val120=) c.8370+156294C= (n.8370+156294C=) | |
2 | g.108929340C>G | CA1825149 | EDAR,RANBP2 | c.214G>C (p.Val72Leu) c.265G>C (p.Val89Leu) c.358G>C (p.Val120Leu) c.8370+156294C>G (n.8370+156294C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929340C>T | CA1825150 | EDAR,RANBP2 | c.214G>A (p.Val72Ile) c.265G>A (p.Val89Ile) c.358G>A (p.Val120Ile) c.8370+156294C>T (n.8370+156294C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929341G>A | CA1825151 | EDAR,RANBP2 | c.213C>T (p.Cys71=) c.264C>T (p.Cys88=) c.357C>T (p.Cys119=) c.8370+156295G>A (n.8370+156295G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929341G>C | CA348115839 | EDAR,RANBP2 | c.213C>G (p.Cys71Trp) c.264C>G (p.Cys88Trp) c.357C>G (p.Cys119Trp) c.8370+156295G>C (n.8370+156295G>C) | |
2 | g.108929341G= | CA1278368582 | EDAR,RANBP2 | c.213C= (p.Cys71=) c.264C= (p.Cys88=) c.357C= (p.Cys119=) c.8370+156295G= (n.8370+156295G=) | |
2 | g.108929341G>T | CA348115840 | EDAR,RANBP2 | c.213C>A (p.Cys71Ter) c.264C>A (p.Cys88Ter) c.357C>A (p.Cys119Ter) c.8370+156295G>T (n.8370+156295G>T) | |
2 | g.108929342C>A | CA348115841 | EDAR,RANBP2 | c.212G>T (p.Cys71Phe) c.263G>T (p.Cys88Phe) c.356G>T (p.Cys119Phe) c.8370+156296C>A (n.8370+156296C>A) | |
2 | g.108929342C= | CA1278368583 | EDAR,RANBP2 | c.212G= (p.Cys71=) c.263G= (p.Cys88=) c.356G= (p.Cys119=) c.8370+156296C= (n.8370+156296C=) | |
2 | g.108929342C>G | CA348115842 | EDAR,RANBP2 | c.212G>C (p.Cys71Ser) c.263G>C (p.Cys88Ser) c.356G>C (p.Cys119Ser) c.8370+156296C>G (n.8370+156296C>G) | |
2 | g.108929342C>T | CA1825152 | EDAR,RANBP2 | c.212G>A (p.Cys71Tyr) c.263G>A (p.Cys88Tyr) c.356G>A (p.Cys119Tyr) c.8370+156296C>T (n.8370+156296C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108929343A>C | CA348115843 | EDAR,RANBP2 | c.211T>G (p.Cys71Gly) c.262T>G (p.Cys88Gly) c.355T>G (p.Cys119Gly) c.8370+156297A>C (n.8370+156297A>C) | |
2 | g.108929343A>G | CA348115845 | EDAR,RANBP2 | c.211T>C (p.Cys71Arg) c.262T>C (p.Cys88Arg) c.355T>C (p.Cys119Arg) c.8370+156297A>G (n.8370+156297A>G) | |
2 | g.108929343A>T | CA348115844 | EDAR,RANBP2 | c.211T>A (p.Cys71Ser) c.262T>A (p.Cys88Ser) c.355T>A (p.Cys119Ser) c.8370+156297A>T (n.8370+156297A>T) | |
2 | g.108929344G>A | CA428086883 | EDAR,RANBP2 | c.210C>T (p.Gly70=) c.261C>T (p.Gly87=) c.354C>T (p.Gly118=) c.8370+156298G>A (n.8370+156298G>A) | |
2 | g.108929344G>C | CA428086885 | EDAR,RANBP2 | c.210C>G (p.Gly70=) c.261C>G (p.Gly87=) c.354C>G (p.Gly118=) c.8370+156298G>C (n.8370+156298G>C) | |
2 | g.108929344G>T | CA428086886 | EDAR,RANBP2 | c.210C>A (p.Gly70=) c.261C>A (p.Gly87=) c.354C>A (p.Gly118=) c.8370+156298G>T (n.8370+156298G>T) | |
2 | g.108929345C>A | CA348115846 | EDAR,RANBP2 | c.209G>T (p.Gly70Val) c.260G>T (p.Gly87Val) c.353G>T (p.Gly118Val) c.8370+156299C>A (n.8370+156299C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108929345C= | CA1278368584 | EDAR,RANBP2 | c.209G= (p.Gly70=) c.260G= (p.Gly87=) c.353G= (p.Gly118=) c.8370+156299C= (n.8370+156299C=) | |
2 | g.108929345C>G | CA348115847 | EDAR,RANBP2 | c.209G>C (p.Gly70Ala) c.260G>C (p.Gly87Ala) c.353G>C (p.Gly118Ala) c.8370+156299C>G (n.8370+156299C>G) | |
2 | g.108929345C>T | CA348115848 | EDAR,RANBP2 | c.209G>A (p.Gly70Asp) c.260G>A (p.Gly87Asp) c.353G>A (p.Gly118Asp) c.8370+156299C>T (n.8370+156299C>T) | gnomAD v4 |
2 | g.108929346C>A | CA348115849 | EDAR,RANBP2 | c.208G>T (p.Gly70Cys) c.259G>T (p.Gly87Cys) c.352G>T (p.Gly118Cys) c.8370+156300C>A (n.8370+156300C>A) | |
2 | g.108929346C= | CA1278368585 | EDAR,RANBP2 | c.208G= (p.Gly70=) c.259G= (p.Gly87=) c.352G= (p.Gly118=) c.8370+156300C= (n.8370+156300C=) | |
2 | g.108929346C>G | CA348115850 | EDAR,RANBP2 | c.208G>C (p.Gly70Arg) c.259G>C (p.Gly87Arg) c.352G>C (p.Gly118Arg) c.8370+156300C>G (n.8370+156300C>G) | |
2 | g.108929346C>T | CA1825153 | EDAR,RANBP2 | c.208G>A (p.Gly70Ser) c.259G>A (p.Gly87Ser) c.352G>A (p.Gly118Ser) c.8370+156300C>T (n.8370+156300C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.108929346_108929347delinsCG | CA1278368586 | EDAR,RANBP2 | c.207_208delinsCG (p.Tyr69=) c.258_259delinsCG (p.Tyr86=) c.351_352delinsCG (p.Tyr117=) c.8370+156300_8370+156301delinsCG (n.8370+156300_8370+156301delinsCG) | |
2 | g.108929346_108929347insA | CA2660611277 | EDAR,RANBP2 | c.207_208insT (p.Gly70TrpfsTer25) c.258_259insT (p.Gly87TrpfsTer25) c.351_352insT (p.Gly118TrpfsTer25) c.8370+156300_8370+156301insA (n.8370+156300_8370+156301insA) | gnomAD v4 |
2 | g.108929347G>A | CA249812 | EDAR,RANBP2 | c.207C>T (p.Tyr69=) c.258C>T (p.Tyr86=) c.351C>T (p.Tyr117=) c.8370+156301G>A (n.8370+156301G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929347G>C | CA348115851 | EDAR,RANBP2 | c.207C>G (p.Tyr69Ter) c.258C>G (p.Tyr86Ter) c.351C>G (p.Tyr117Ter) c.8370+156301G>C (n.8370+156301G>C) | |
2 | g.108929347G= | CA1278368587 | EDAR,RANBP2 | c.207C= (p.Tyr69=) c.258C= (p.Tyr86=) c.351C= (p.Tyr117=) c.8370+156301G= (n.8370+156301G=) | |
2 | g.108929347G>T | CA348115852 | EDAR,RANBP2 | c.207C>A (p.Tyr69Ter) c.258C>A (p.Tyr86Ter) c.351C>A (p.Tyr117Ter) c.8370+156301G>T (n.8370+156301G>T) | |
2 | g.108929347delinsAA | CA913190037 | EDAR,RANBP2 | c.207delinsTT (p.Gly70TrpfsTer25) c.258delinsTT (p.Gly87TrpfsTer25) c.351delinsTT (p.Gly118TrpfsTer25) c.8370+156301delinsAA (n.8370+156301delinsAA) | ClinVar dbSNP |
2 | g.108929348T>A | CA348115853 | EDAR,RANBP2 | c.206A>T (p.Tyr69Phe) c.257A>T (p.Tyr86Phe) c.350A>T (p.Tyr117Phe) c.8370+156302T>A (n.8370+156302T>A) | |
2 | g.108929348T>C | CA348115854 | EDAR,RANBP2 | c.206A>G (p.Tyr69Cys) c.257A>G (p.Tyr86Cys) c.350A>G (p.Tyr117Cys) c.8370+156302T>C (n.8370+156302T>C) | |
2 | g.108929348T>G | CA348115855 | EDAR,RANBP2 | c.206A>C (p.Tyr69Ser) c.257A>C (p.Tyr86Ser) c.350A>C (p.Tyr117Ser) c.8370+156302T>G (n.8370+156302T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108929348T= | CA1278368588 | EDAR,RANBP2 | c.206A= (p.Tyr69=) c.257A= (p.Tyr86=) c.350A= (p.Tyr117=) c.8370+156302T= (n.8370+156302T=) | |
2 | g.108929349A= | CA1278368589 | EDAR,RANBP2 | c.205T= (p.Tyr69=) c.256T= (p.Tyr86=) c.349T= (p.Tyr117=) c.8370+156303A= (n.8370+156303A=) | |
2 | g.108929349A>C | CA348115858 | EDAR,RANBP2 | c.205T>G (p.Tyr69Asp) c.256T>G (p.Tyr86Asp) c.349T>G (p.Tyr117Asp) c.8370+156303A>C (n.8370+156303A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929349A>G | CA348115856 | EDAR,RANBP2 | c.205T>C (p.Tyr69His) c.256T>C (p.Tyr86His) c.349T>C (p.Tyr117His) c.8370+156303A>G (n.8370+156303A>G) | |
2 | g.108929349A>T | CA348115857 | EDAR,RANBP2 | c.205T>A (p.Tyr69Asn) c.256T>A (p.Tyr86Asn) c.349T>A (p.Tyr117Asn) c.8370+156303A>T (n.8370+156303A>T) | gnomAD v4 |
2 | g.108929349dup | CA2842691037 | EDAR,RANBP2 | c.205dup (p.Tyr69LeufsTer26) c.256dup (p.Tyr86LeufsTer26) c.349dup (p.Tyr117LeufsTer26) c.8370+156303dup (n.8370+156303dup) | |
2 | g.108929349_108929350delinsAG | CA1278368590 | EDAR,RANBP2 | c.204_205delinsCT (p.Asp68=) c.255_256delinsCT (p.Asp85=) c.348_349delinsCT (p.Asp116=) c.8370+156303_8370+156304delinsAG (n.8370+156303_8370+156304delinsAG) | |
2 | g.108929350del | CA1278368591 | EDAR,RANBP2 | c.204del (p.Tyr69ThrfsTer?) c.255del (p.Tyr86ThrfsTer?) c.348del (p.Tyr117ThrfsTer?) c.8370+156304del (n.8370+156304del) | ClinVar dbSNP |
2 | g.108929350G>A | CA428086889 | EDAR,RANBP2 | c.204C>T (p.Asp68=) c.255C>T (p.Asp85=) c.348C>T (p.Asp116=) c.8370+156304G>A (n.8370+156304G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108929350G>C | CA348115859 | EDAR,RANBP2 | c.204C>G (p.Asp68Glu) c.255C>G (p.Asp85Glu) c.348C>G (p.Asp116Glu) c.8370+156304G>C (n.8370+156304G>C) | |
2 | g.108929350G= | CA1278368593 | EDAR,RANBP2 | c.204C= (p.Asp68=) c.255C= (p.Asp85=) c.348C= (p.Asp116=) c.8370+156304G= (n.8370+156304G=) | |
2 | g.108929350G>T | CA348115860 | EDAR,RANBP2 | c.204C>A (p.Asp68Glu) c.255C>A (p.Asp85Glu) c.348C>A (p.Asp116Glu) c.8370+156304G>T (n.8370+156304G>T) | gnomAD v4 |
2 | g.108929350_108929353delinsGTCC | CA1278368592 | EDAR,RANBP2 | c.201_204delinsGGAC (p.Glu67=) c.252_255delinsGGAC (p.Glu84=) c.345_348delinsGGAC (p.Glu115=) c.8370+156304_8370+156307delinsGTCC (n.8370+156304_8370+156307delinsGTCC) | |
2 | g.108929351T>A | CA348115861 | EDAR,RANBP2 | c.203A>T (p.Asp68Val) c.254A>T (p.Asp85Val) c.347A>T (p.Asp116Val) c.8370+156305T>A (n.8370+156305T>A) | |
2 | g.108929351T>C | CA348115862 | EDAR,RANBP2 | c.203A>G (p.Asp68Gly) c.254A>G (p.Asp85Gly) c.347A>G (p.Asp116Gly) c.8370+156305T>C (n.8370+156305T>C) | |
2 | g.108929351T>G | CA348115863 | EDAR,RANBP2 | c.203A>C (p.Asp68Ala) c.254A>C (p.Asp85Ala) c.347A>C (p.Asp116Ala) c.8370+156305T>G (n.8370+156305T>G) | |
2 | g.108929353_108929355del | CA754906521 | EDAR,RANBP2 | c.201_203del (p.Glu67del) c.252_254del (p.Glu84del) c.345_347del (p.Glu115del) c.8370+156307_8370+156309del (n.8370+156307_8370+156309del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108929352C>A | CA348115864 | EDAR,RANBP2 | c.202G>T (p.Asp68Tyr) c.253G>T (p.Asp85Tyr) c.346G>T (p.Asp116Tyr) c.8370+156306C>A (n.8370+156306C>A) | |
2 | g.108929352C>G | CA348115865 | EDAR,RANBP2 | c.202G>C (p.Asp68His) c.253G>C (p.Asp85His) c.346G>C (p.Asp116His) c.8370+156306C>G (n.8370+156306C>G) | |
2 | g.108929352C>T | CA348115866 | EDAR,RANBP2 | c.202G>A (p.Asp68Asn) c.253G>A (p.Asp85Asn) c.346G>A (p.Asp116Asn) c.8370+156306C>T (n.8370+156306C>T) | |
2 | g.108929352_108929353insTTCGTCTTTGGTGCCGTAGCC | CA2580063722 | EDAR,RANBP2 | c.202_203insGCTACGGCACCAAAGACGAAG (p.Glu67_Asp68insGlyTyrGlyThrLysAspGlu) c.253_254insGCTACGGCACCAAAGACGAAG (p.Glu84_Asp85insGlyTyrGlyThrLysAspGlu) c.346_347insGCTACGGCACCAAAGACGAAG (p.Glu115_Asp116insGlyTyrGlyThrLysAspGlu) c.8370+156306_8370+156307insTTCGTCTTTGGTGCCGTAGCC (n.8370+156306_8370+156307insTTCGTCTTTGGTGCCGTAGCC) | ClinVar |
2 | g.108929353C>A | CA348115867 | EDAR,RANBP2 | c.201G>T (p.Glu67Asp) c.252G>T (p.Glu84Asp) c.345G>T (p.Glu115Asp) c.8370+156307C>A (n.8370+156307C>A) | |
2 | g.108929353C>G | CA348115868 | EDAR,RANBP2 | c.201G>C (p.Glu67Asp) c.252G>C (p.Glu84Asp) c.345G>C (p.Glu115Asp) c.8370+156307C>G (n.8370+156307C>G) | |
2 | g.108929353C>T | CA428086893 | EDAR,RANBP2 | c.201G>A (p.Glu67=) c.252G>A (p.Glu84=) c.345G>A (p.Glu115=) c.8370+156307C>T (n.8370+156307C>T) | |
2 | g.108929354T>A | CA348115869 | EDAR,RANBP2 | c.200A>T (p.Glu67Val) c.251A>T (p.Glu84Val) c.344A>T (p.Glu115Val) c.8370+156308T>A (n.8370+156308T>A) | |
2 | g.108929354T>C | CA348115870 | EDAR,RANBP2 | c.200A>G (p.Glu67Gly) c.251A>G (p.Glu84Gly) c.344A>G (p.Glu115Gly) c.8370+156308T>C (n.8370+156308T>C) | |
2 | g.108929354T>G | CA348115871 | EDAR,RANBP2 | c.200A>C (p.Glu67Ala) c.251A>C (p.Glu84Ala) c.344A>C (p.Glu115Ala) c.8370+156308T>G (n.8370+156308T>G) | |
2 | g.108929355C>A | CA348115874 | EDAR,RANBP2 | c.199G>T (p.Glu67Ter) c.250G>T (p.Glu84Ter) c.343G>T (p.Glu115Ter) c.8370+156309C>A (n.8370+156309C>A) | |
2 | g.108929355C= | CA1278368594 | EDAR,RANBP2 | c.199G= (p.Glu67=) c.250G= (p.Glu84=) c.343G= (p.Glu115=) c.8370+156309C= (n.8370+156309C=) | |
2 | g.108929355C>G | CA348115872 | EDAR,RANBP2 | c.199G>C (p.Glu67Gln) c.250G>C (p.Glu84Gln) c.343G>C (p.Glu115Gln) c.8370+156309C>G (n.8370+156309C>G) | |
2 | g.108929355C>T | CA348115873 | EDAR,RANBP2 | c.199G>A (p.Glu67Lys) c.250G>A (p.Glu84Lys) c.343G>A (p.Glu115Lys) c.8370+156309C>T (n.8370+156309C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.108929356G>A | CA1825154 | EDAR,RANBP2 | c.198C>T (p.Asp66=) c.249C>T (p.Asp83=) c.342C>T (p.Asp114=) c.8370+156310G>A (n.8370+156310G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929356G>C | CA348115875 | EDAR,RANBP2 | c.198C>G (p.Asp66Glu) c.249C>G (p.Asp83Glu) c.342C>G (p.Asp114Glu) c.8370+156310G>C (n.8370+156310G>C) | |
2 | g.108929356G= | CA1278368595 | EDAR,RANBP2 | c.198C= (p.Asp66=) c.249C= (p.Asp83=) c.342C= (p.Asp114=) c.8370+156310G= (n.8370+156310G=) | |
2 | g.108929356G>T | CA348115876 | EDAR,RANBP2 | c.198C>A (p.Asp66Glu) c.249C>A (p.Asp83Glu) c.342C>A (p.Asp114Glu) c.8370+156310G>T (n.8370+156310G>T) | |
2 | g.108929358_108929364del | CA2660611278 | EDAR,RANBP2 | c.192_198del (p.Lys65ArgfsTer?) c.243_249del (p.Lys82ArgfsTer?) c.336_342del (p.Lys113ArgfsTer?) c.8370+156312_8370+156318del (n.8370+156312_8370+156318del) | gnomAD v4 |
2 | g.108929357T>A | CA348115877 | EDAR,RANBP2 | c.197A>T (p.Asp66Val) c.248A>T (p.Asp83Val) c.341A>T (p.Asp114Val) c.8370+156311T>A (n.8370+156311T>A) | gnomAD v4 |
2 | g.108929357T>C | CA348115878 | EDAR,RANBP2 | c.197A>G (p.Asp66Gly) c.248A>G (p.Asp83Gly) c.341A>G (p.Asp114Gly) c.8370+156311T>C (n.8370+156311T>C) | gnomAD v4 |
2 | g.108929357T>G | CA348115879 | EDAR,RANBP2 | c.197A>C (p.Asp66Ala) c.248A>C (p.Asp83Ala) c.341A>C (p.Asp114Ala) c.8370+156311T>G (n.8370+156311T>G) | |
2 | g.108929357T= | CA1278368596 | EDAR,RANBP2 | c.197A= (p.Asp66=) c.248A= (p.Asp83=) c.341A= (p.Asp114=) c.8370+156311T= (n.8370+156311T=) | |
2 | g.108929358C>A | CA348115880 | EDAR,RANBP2 | c.196G>T (p.Asp66Tyr) c.247G>T (p.Asp83Tyr) c.340G>T (p.Asp114Tyr) c.8370+156312C>A (n.8370+156312C>A) | |
2 | g.108929358C>G | CA348115881 | EDAR,RANBP2 | c.196G>C (p.Asp66His) c.247G>C (p.Asp83His) c.340G>C (p.Asp114His) c.8370+156312C>G (n.8370+156312C>G) | |
2 | g.108929358C>T | CA348115882 | EDAR,RANBP2 | c.196G>A (p.Asp66Asn) c.247G>A (p.Asp83Asn) c.340G>A (p.Asp114Asn) c.8370+156312C>T (n.8370+156312C>T) | |
2 | g.108929358dup | CA1825155 | EDAR,RANBP2 | c.196dup (p.Asp66GlyfsTer29) c.247dup (p.Asp83GlyfsTer29) c.340dup (p.Asp114GlyfsTer29) c.8370+156312dup (n.8370+156312dup) | dbSNP ExAC |
2 | g.108929359T>A | CA348115883 | EDAR,RANBP2 | c.195A>T (p.Lys65Asn) c.246A>T (p.Lys82Asn) c.339A>T (p.Lys113Asn) c.8370+156313T>A (n.8370+156313T>A) | |
2 | g.108929359T>C | CA428086898 | EDAR,RANBP2 | c.195A>G (p.Lys65=) c.246A>G (p.Lys82=) c.339A>G (p.Lys113=) c.8370+156313T>C (n.8370+156313T>C) | |
2 | g.108929359T>G | CA348115884 | EDAR,RANBP2 | c.195A>C (p.Lys65Asn) c.246A>C (p.Lys82Asn) c.339A>C (p.Lys113Asn) c.8370+156313T>G (n.8370+156313T>G) | |
2 | g.108929359T= | CA1278368597 | EDAR,RANBP2 | c.195A= (p.Lys65=) c.246A= (p.Lys82=) c.339A= (p.Lys113=) c.8370+156313T= (n.8370+156313T=) | |
2 | g.108929360T>A | CA348115885 | EDAR,RANBP2 | c.194A>T (p.Lys65Ile) c.245A>T (p.Lys82Ile) c.338A>T (p.Lys113Ile) c.8370+156314T>A (n.8370+156314T>A) | |
2 | g.108929360T>C | CA348115887 | EDAR,RANBP2 | c.194A>G (p.Lys65Arg) c.245A>G (p.Lys82Arg) c.338A>G (p.Lys113Arg) c.8370+156314T>C (n.8370+156314T>C) | |
2 | g.108929360T>G | CA348115886 | EDAR,RANBP2 | c.194A>C (p.Lys65Thr) c.245A>C (p.Lys82Thr) c.338A>C (p.Lys113Thr) c.8370+156314T>G (n.8370+156314T>G) | |
2 | g.108929360_108929361insAGCAAGCTACCAT | CA1825156 | EDAR,RANBP2 | c.194_195insTGGTAGCTTGCTA (p.Lys65AsnfsTer34) c.245_246insTGGTAGCTTGCTA (p.Lys82AsnfsTer34) c.338_339insTGGTAGCTTGCTA (p.Lys113AsnfsTer34) c.8370+156314_8370+156315insAGCAAGCTACCAT (n.8370+156314_8370+156315insAGCAAGCTACCAT) | dbSNP ExAC |
2 | g.108929361T>A | CA348115889 | EDAR,RANBP2 | c.193A>T (p.Lys65Ter) c.244A>T (p.Lys82Ter) c.337A>T (p.Lys113Ter) c.8370+156315T>A (n.8370+156315T>A) | |
2 | g.108929361T>C | CA348115888 | EDAR,RANBP2 | c.193A>G (p.Lys65Glu) c.244A>G (p.Lys82Glu) c.337A>G (p.Lys113Glu) c.8370+156315T>C (n.8370+156315T>C) | |
2 | g.108929361T>G | CA348115890 | EDAR,RANBP2 | c.193A>C (p.Lys65Gln) c.244A>C (p.Lys82Gln) c.337A>C (p.Lys113Gln) c.8370+156315T>G (n.8370+156315T>G) | |
2 | g.108929362G>A | CA428086900 | EDAR,RANBP2 | c.192C>T (p.Thr64=) c.243C>T (p.Thr81=) c.336C>T (p.Thr112=) c.8370+156316G>A (n.8370+156316G>A) | |
2 | g.108929362G>C | CA428086901 | EDAR,RANBP2 | c.192C>G (p.Thr64=) c.243C>G (p.Thr81=) c.336C>G (p.Thr112=) c.8370+156316G>C (n.8370+156316G>C) | |
2 | g.108929362G>T | CA428086902 | EDAR,RANBP2 | c.192C>A (p.Thr64=) c.243C>A (p.Thr81=) c.336C>A (p.Thr112=) c.8370+156316G>T (n.8370+156316G>T) | |
2 | g.108929363G>A | CA1825157 | EDAR,RANBP2 | c.191C>T (p.Thr64Ile) c.242C>T (p.Thr81Ile) c.335C>T (p.Thr112Ile) c.8370+156317G>A (n.8370+156317G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108929363G>C | CA348115891 | EDAR,RANBP2 | c.191C>G (p.Thr64Ser) c.242C>G (p.Thr81Ser) c.335C>G (p.Thr112Ser) c.8370+156317G>C (n.8370+156317G>C) | |
2 | g.108929363G= | CA1278368598 | EDAR,RANBP2 | c.191C= (p.Thr64=) c.242C= (p.Thr81=) c.335C= (p.Thr112=) c.8370+156317G= (n.8370+156317G=) | |
2 | g.108929363G>T | CA348115892 | EDAR,RANBP2 | c.191C>A (p.Thr64Asn) c.242C>A (p.Thr81Asn) c.335C>A (p.Thr112Asn) c.8370+156317G>T (n.8370+156317G>T) |