| 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.108929257G>A | CA1825133 | EDAR,RANBP2 | c.297C>T (p.Ala99=) c.348C>T (p.Ala116=) c.441C>T (p.Ala147=) c.8370+156211G>A (n.8370+156211G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108929257G>C | CA428086832 | EDAR,RANBP2 | c.297C>G (p.Ala99=) c.348C>G (p.Ala116=) c.441C>G (p.Ala147=) c.8370+156211G>C (n.8370+156211G>C) | |
| 2 | g.108929257G= | CA1278368538 | EDAR,RANBP2 | c.297C= (p.Ala99=) c.348C= (p.Ala116=) c.441C= (p.Ala147=) c.8370+156211G= (n.8370+156211G=) | |
| 2 | g.108929257G>T | CA428086833 | EDAR,RANBP2 | c.297C>A (p.Ala99=) c.348C>A (p.Ala116=) c.441C>A (p.Ala147=) c.8370+156211G>T (n.8370+156211G>T) | |
| 2 | g.108929258G>A | CA348115662 | EDAR,RANBP2 | c.296C>T (p.Ala99Val) c.347C>T (p.Ala116Val) c.440C>T (p.Ala147Val) c.8370+156212G>A (n.8370+156212G>A) | |
| 2 | g.108929258G>C | CA348115661 | EDAR,RANBP2 | c.296C>G (p.Ala99Gly) c.347C>G (p.Ala116Gly) c.440C>G (p.Ala147Gly) c.8370+156212G>C (n.8370+156212G>C) | |
| 2 | g.108929258G>T | CA348115660 | EDAR,RANBP2 | c.296C>A (p.Ala99Asp) c.347C>A (p.Ala116Asp) c.440C>A (p.Ala147Asp) c.8370+156212G>T (n.8370+156212G>T) | |
| 2 | g.108929259C>A | CA348115663 | EDAR,RANBP2 | c.295G>T (p.Ala99Ser) c.346G>T (p.Ala116Ser) c.439G>T (p.Ala147Ser) c.8370+156213C>A (n.8370+156213C>A) | |
| 2 | g.108929259C= | CA1278368539 | EDAR,RANBP2 | c.295G= (p.Ala99=) c.346G= (p.Ala116=) c.439G= (p.Ala147=) c.8370+156213C= (n.8370+156213C=) | |
| 2 | g.108929259C>G | CA348115664 | EDAR,RANBP2 | c.295G>C (p.Ala99Pro) c.346G>C (p.Ala116Pro) c.439G>C (p.Ala147Pro) c.8370+156213C>G (n.8370+156213C>G) | |
| 2 | g.108929259C>T | CA1825134 | EDAR,RANBP2 | c.295G>A (p.Ala99Thr) c.346G>A (p.Ala116Thr) c.439G>A (p.Ala147Thr) c.8370+156213C>T (n.8370+156213C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.108929260C>A | CA428086834 | EDAR,RANBP2 | c.294G>T (p.Arg98=) c.345G>T (p.Arg115=) c.438G>T (p.Arg146=) c.8370+156214C>A (n.8370+156214C>A) | |
| 2 | g.108929260C= | CA1278368540 | EDAR,RANBP2 | c.294G= (p.Arg98=) c.345G= (p.Arg115=) c.438G= (p.Arg146=) c.8370+156214C= (n.8370+156214C=) | |
| 2 | g.108929260C>G | CA428086835 | EDAR,RANBP2 | c.294G>C (p.Arg98=) c.345G>C (p.Arg115=) c.438G>C (p.Arg146=) c.8370+156214C>G (n.8370+156214C>G) | |
| 2 | g.108929260C>T | CA428086836 | EDAR,RANBP2 | c.294G>A (p.Arg98=) c.345G>A (p.Arg115=) c.438G>A (p.Arg146=) c.8370+156214C>T (n.8370+156214C>T) | dbSNP |
| 2 | g.108929261C>A | CA348115665 | EDAR,RANBP2 | c.293G>T (p.Arg98Leu) c.344G>T (p.Arg115Leu) c.437G>T (p.Arg146Leu) c.8370+156215C>A (n.8370+156215C>A) | |
| 2 | g.108929261C= | CA1278368541 | EDAR,RANBP2 | c.293G= (p.Arg98=) c.344G= (p.Arg115=) c.437G= (p.Arg146=) c.8370+156215C= (n.8370+156215C=) | |
| 2 | g.108929261C>G | CA1825136 | EDAR,RANBP2 | c.293G>C (p.Arg98Pro) c.344G>C (p.Arg115Pro) c.437G>C (p.Arg146Pro) c.8370+156215C>G (n.8370+156215C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.108929261C>T | CA1825135 | EDAR,RANBP2 | c.293G>A (p.Arg98Gln) c.344G>A (p.Arg115Gln) c.437G>A (p.Arg146Gln) c.8370+156215C>T (n.8370+156215C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.108929262G>A | CA54012145 | EDAR,RANBP2 | c.292C>T (p.Arg98Trp) c.343C>T (p.Arg115Trp) c.436C>T (p.Arg146Trp) c.8370+156216G>A (n.8370+156216G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108929262G>C | CA348115666 | EDAR,RANBP2 | c.292C>G (p.Arg98Gly) c.343C>G (p.Arg115Gly) c.436C>G (p.Arg146Gly) c.8370+156216G>C (n.8370+156216G>C) | |
| 2 | g.108929262G= | CA1278368542 | EDAR,RANBP2 | c.292C= (p.Arg98=) c.343C= (p.Arg115=) c.436C= (p.Arg146=) c.8370+156216G= (n.8370+156216G=) | |
| 2 | g.108929262G>T | CA1825137 | EDAR,RANBP2 | c.292C>A (p.Arg98=) c.343C>A (p.Arg115=) c.436C>A (p.Arg146=) c.8370+156216G>T (n.8370+156216G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 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=) |