Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.108929149del | CA2660611261 | EDAR,RANBP2 | c.356+52del (n.356+52del) c.407+52del (n.407+52del) c.500+52del (n.500+52del) c.8370+156103del (n.8370+156103del) | gnomAD v4 |
2 | g.108929149G= | CA1278368494 | EDAR,RANBP2 | c.356+49C= (n.356+49C=) c.407+49C= (n.407+49C=) c.500+49C= (n.500+49C=) c.8370+156103G= (n.8370+156103G=) | |
2 | g.108929149G>T | CA754906137 | EDAR,RANBP2 | c.356+49C>A (n.356+49C>A) c.407+49C>A (n.407+49C>A) c.500+49C>A (n.500+49C>A) c.8370+156103G>T (n.8370+156103G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108929150T>G | CA2838396694 | EDAR,RANBP2 | c.356+48A>C (n.356+48A>C) c.407+48A>C (n.407+48A>C) c.500+48A>C (n.500+48A>C) c.8370+156104T>G (n.8370+156104T>G) | |
2 | g.108929157C>T | CA2660611262 | EDAR,RANBP2 | c.356+41G>A (n.356+41G>A) c.407+41G>A (n.407+41G>A) c.500+41G>A (n.500+41G>A) c.8370+156111C>T (n.8370+156111C>T) | gnomAD v4 |
2 | g.108929158A>C | CA2660611263 | EDAR,RANBP2 | c.356+40T>G (n.356+40T>G) c.407+40T>G (n.407+40T>G) c.500+40T>G (n.500+40T>G) c.8370+156112A>C (n.8370+156112A>C) | gnomAD v4 |
2 | g.108929158A>G | CA2660611264 | EDAR,RANBP2 | c.356+40T>C (n.356+40T>C) c.407+40T>C (n.407+40T>C) c.500+40T>C (n.500+40T>C) c.8370+156112A>G (n.8370+156112A>G) | gnomAD v4 |
2 | g.108929158A>T | CA2660611265 | EDAR,RANBP2 | c.356+40T>A (n.356+40T>A) c.407+40T>A (n.407+40T>A) c.500+40T>A (n.500+40T>A) c.8370+156112A>T (n.8370+156112A>T) | gnomAD v4 |
2 | g.108929159G>A | CA754906138 | EDAR,RANBP2 | c.356+39C>T (n.356+39C>T) c.407+39C>T (n.407+39C>T) c.500+39C>T (n.500+39C>T) c.8370+156113G>A (n.8370+156113G>A) | dbSNP |
2 | g.108929159G>C | CA535597391 | EDAR,RANBP2 | c.356+39C>G (n.356+39C>G) c.407+39C>G (n.407+39C>G) c.500+39C>G (n.500+39C>G) c.8370+156113G>C (n.8370+156113G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929159G= | CA1278368495 | EDAR,RANBP2 | c.356+39C= (n.356+39C=) c.407+39C= (n.407+39C=) c.500+39C= (n.500+39C=) c.8370+156113G= (n.8370+156113G=) | |
2 | g.108929163G>T | CA2660611266 | EDAR,RANBP2 | c.356+35C>A (n.356+35C>A) c.407+35C>A (n.407+35C>A) c.500+35C>A (n.500+35C>A) c.8370+156117G>T (n.8370+156117G>T) | gnomAD v4 |
2 | g.108929165A>C | CA2577065734 | EDAR,RANBP2 | c.356+33T>G (n.356+33T>G) c.407+33T>G (n.407+33T>G) c.500+33T>G (n.500+33T>G) c.8370+156119A>C (n.8370+156119A>C) | |
2 | g.108929165A>T | CA2660611267 | EDAR,RANBP2 | c.356+33T>A (n.356+33T>A) c.407+33T>A (n.407+33T>A) c.500+33T>A (n.500+33T>A) c.8370+156119A>T (n.8370+156119A>T) | gnomAD v4 |
2 | g.108929166T>C | CA2577065735 | EDAR,RANBP2 | c.356+32A>G (n.356+32A>G) c.407+32A>G (n.407+32A>G) c.500+32A>G (n.500+32A>G) c.8370+156120T>C (n.8370+156120T>C) | |
2 | g.108929167G>A | CA2838396703 | EDAR,RANBP2 | c.356+31C>T (n.356+31C>T) c.407+31C>T (n.407+31C>T) c.500+31C>T (n.500+31C>T) c.8370+156121G>A (n.8370+156121G>A) | |
2 | g.108929167G>T | CA2660611268 | EDAR,RANBP2 | c.356+31C>A (n.356+31C>A) c.407+31C>A (n.407+31C>A) c.500+31C>A (n.500+31C>A) c.8370+156121G>T (n.8370+156121G>T) | gnomAD v4 |
2 | g.108929168C>G | CA646689425 | EDAR,RANBP2 | c.356+30G>C (n.356+30G>C) c.407+30G>C (n.407+30G>C) c.500+30G>C (n.500+30G>C) c.8370+156122C>G (n.8370+156122C>G) | COSMIC |
2 | g.108929168C>T | CA2660611269 | EDAR,RANBP2 | c.356+30G>A (n.356+30G>A) c.407+30G>A (n.407+30G>A) c.500+30G>A (n.500+30G>A) c.8370+156122C>T (n.8370+156122C>T) | gnomAD v4 |
2 | g.108929169C>A | CA2839718994 | EDAR,RANBP2 | c.356+29G>T (n.356+29G>T) c.407+29G>T (n.407+29G>T) c.500+29G>T (n.500+29G>T) c.8370+156123C>A (n.8370+156123C>A) | |
2 | g.108929171G>A | CA2577065736 | EDAR,RANBP2 | c.356+27C>T (n.356+27C>T) c.407+27C>T (n.407+27C>T) c.500+27C>T (n.500+27C>T) c.8370+156125G>A (n.8370+156125G>A) | gnomAD v4 |
2 | g.108929171G>C | CA535597392 | EDAR,RANBP2 | c.356+27C>G (n.356+27C>G) c.407+27C>G (n.407+27C>G) c.500+27C>G (n.500+27C>G) c.8370+156125G>C (n.8370+156125G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929171G= | CA1278368496 | EDAR,RANBP2 | c.356+27C= (n.356+27C=) c.407+27C= (n.407+27C=) c.500+27C= (n.500+27C=) c.8370+156125G= (n.8370+156125G=) | |
2 | g.108929171G>T | CA2838396693 | EDAR,RANBP2 | c.356+27C>A (n.356+27C>A) c.407+27C>A (n.407+27C>A) c.500+27C>A (n.500+27C>A) c.8370+156125G>T (n.8370+156125G>T) | |
2 | g.108929172G>A | CA2660611270 | EDAR,RANBP2 | c.356+26C>T (n.356+26C>T) c.407+26C>T (n.407+26C>T) c.500+26C>T (n.500+26C>T) c.8370+156126G>A (n.8370+156126G>A) | gnomAD v4 |
2 | g.108929172G>C | CA2660611271 | EDAR,RANBP2 | c.356+26C>G (n.356+26C>G) c.407+26C>G (n.407+26C>G) c.500+26C>G (n.500+26C>G) c.8370+156126G>C (n.8370+156126G>C) | gnomAD v4 |
2 | g.108929172G= | CA1278368497 | EDAR,RANBP2 | c.356+26C= (n.356+26C=) c.407+26C= (n.407+26C=) c.500+26C= (n.500+26C=) c.8370+156126G= (n.8370+156126G=) | |
2 | g.108929172G>T | CA535597393 | EDAR,RANBP2 | c.356+26C>A (n.356+26C>A) c.407+26C>A (n.407+26C>A) c.500+26C>A (n.500+26C>A) c.8370+156126G>T (n.8370+156126G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108929173G>C | CA754906139 | EDAR,RANBP2 | c.356+25C>G (n.356+25C>G) c.407+25C>G (n.407+25C>G) c.500+25C>G (n.500+25C>G) c.8370+156127G>C (n.8370+156127G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108929173G= | CA1278368498 | EDAR,RANBP2 | c.356+25C= (n.356+25C=) c.407+25C= (n.407+25C=) c.500+25C= (n.500+25C=) c.8370+156127G= (n.8370+156127G=) | |
2 | g.108929177_108929186del | CA2751633876 | EDAR,RANBP2 | c.356+12_356+21del (n.356+12_356+21del) c.407+12_407+21del (n.407+12_407+21del) c.500+12_500+21del (n.500+12_500+21del) c.8370+156131_8370+156140del (n.8370+156131_8370+156140del) | |
2 | g.108929179C= | CA1278368499 | EDAR,RANBP2 | c.356+19G= (n.356+19G=) c.407+19G= (n.407+19G=) c.500+19G= (n.500+19G=) c.8370+156133C= (n.8370+156133C=) | |
2 | g.108929179C>G | CA1825118 | EDAR,RANBP2 | c.356+19G>C (n.356+19G>C) c.407+19G>C (n.407+19G>C) c.500+19G>C (n.500+19G>C) c.8370+156133C>G (n.8370+156133C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108929179C>T | CA1825117 | EDAR,RANBP2 | c.356+19G>A (n.356+19G>A) c.407+19G>A (n.407+19G>A) c.500+19G>A (n.500+19G>A) c.8370+156133C>T (n.8370+156133C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929180A>C | CA2577065737 | EDAR,RANBP2 | c.356+18T>G (n.356+18T>G) c.407+18T>G (n.407+18T>G) c.500+18T>G (n.500+18T>G) c.8370+156134A>C (n.8370+156134A>C) | |
2 | g.108929180A>G | CA2842691036 | EDAR,RANBP2 | c.356+18T>C (n.356+18T>C) c.407+18T>C (n.407+18T>C) c.500+18T>C (n.500+18T>C) c.8370+156134A>G (n.8370+156134A>G) | |
2 | g.108929181G>A | CA1034848650 | EDAR,RANBP2 | c.356+17C>T (n.356+17C>T) c.407+17C>T (n.407+17C>T) c.500+17C>T (n.500+17C>T) c.8370+156135G>A (n.8370+156135G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108929181G= | CA1278368500 | EDAR,RANBP2 | c.356+17C= (n.356+17C=) c.407+17C= (n.407+17C=) c.500+17C= (n.500+17C=) c.8370+156135G= (n.8370+156135G=) | |
2 | g.108929181G>T | CA1825119 | EDAR,RANBP2 | c.356+17C>A (n.356+17C>A) c.407+17C>A (n.407+17C>A) c.500+17C>A (n.500+17C>A) c.8370+156135G>T (n.8370+156135G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929184G>A | CA2577065738 | EDAR,RANBP2 | c.356+14C>T (n.356+14C>T) c.407+14C>T (n.407+14C>T) c.500+14C>T (n.500+14C>T) c.8370+156138G>A (n.8370+156138G>A) | |
2 | g.108929186G>A | CA2660611272 | EDAR,RANBP2 | c.356+12C>T (n.356+12C>T) c.407+12C>T (n.407+12C>T) c.500+12C>T (n.500+12C>T) c.8370+156140G>A (n.8370+156140G>A) | gnomAD v4 |
2 | g.108929186G>C | CA646689429 | EDAR,RANBP2 | c.356+12C>G (n.356+12C>G) c.407+12C>G (n.407+12C>G) c.500+12C>G (n.500+12C>G) c.8370+156140G>C (n.8370+156140G>C) | COSMIC |
2 | g.108929186G>T | CA2660611273 | EDAR,RANBP2 | c.356+12C>A (n.356+12C>A) c.407+12C>A (n.407+12C>A) c.500+12C>A (n.500+12C>A) c.8370+156140G>T (n.8370+156140G>T) | gnomAD v4 |
2 | g.108929187C= | CA1278368501 | EDAR,RANBP2 | c.356+11G= (n.356+11G=) c.407+11G= (n.407+11G=) c.500+11G= (n.500+11G=) c.8370+156141C= (n.8370+156141C=) | |
2 | g.108929187C>T | CA1825120 | EDAR,RANBP2 | c.356+11G>A (n.356+11G>A) c.407+11G>A (n.407+11G>A) c.500+11G>A (n.500+11G>A) c.8370+156141C>T (n.8370+156141C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108929189T>G | CA754906141 | EDAR,RANBP2 | c.356+9A>C (n.356+9A>C) c.407+9A>C (n.407+9A>C) c.500+9A>C (n.500+9A>C) c.8370+156143T>G (n.8370+156143T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108929189T= | CA1278368502 | EDAR,RANBP2 | c.356+9A= (n.356+9A=) c.407+9A= (n.407+9A=) c.500+9A= (n.500+9A=) c.8370+156143T= (n.8370+156143T=) | |
2 | g.108929190G>A | CA1278368504 | EDAR,RANBP2 | c.356+8C>T (n.356+8C>T) c.407+8C>T (n.407+8C>T) c.500+8C>T (n.500+8C>T) c.8370+156144G>A (n.8370+156144G>A) | dbSNP gnomAD v4 |
2 | g.108929190G= | CA1278368503 | EDAR,RANBP2 | c.356+8C= (n.356+8C=) c.407+8C= (n.407+8C=) c.500+8C= (n.500+8C=) c.8370+156144G= (n.8370+156144G=) | |
2 | g.108929190G>T | CA2577065739 | EDAR,RANBP2 | c.356+8C>A (n.356+8C>A) c.407+8C>A (n.407+8C>A) c.500+8C>A (n.500+8C>A) c.8370+156144G>T (n.8370+156144G>T) | |
2 | g.108929191T>C | CA535597394 | EDAR,RANBP2 | c.356+7A>G (n.356+7A>G) c.407+7A>G (n.407+7A>G) c.500+7A>G (n.500+7A>G) c.8370+156145T>C (n.8370+156145T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.108929191T= | CA1278368505 | EDAR,RANBP2 | c.356+7A= (n.356+7A=) c.407+7A= (n.407+7A=) c.500+7A= (n.500+7A=) c.8370+156145T= (n.8370+156145T=) | |
2 | g.108929192G>A | CA2660611274 | EDAR,RANBP2 | c.356+6C>T (n.356+6C>T) c.407+6C>T (n.407+6C>T) c.500+6C>T (n.500+6C>T) c.8370+156146G>A (n.8370+156146G>A) | gnomAD v4 |
2 | g.108929196A= | CA1278368506 | EDAR,RANBP2 | c.356+2T= (n.356+2T=) c.407+2T= (n.407+2T=) c.500+2T= (n.500+2T=) c.8370+156150A= (n.8370+156150A=) | |
2 | g.108929196A>C | CA348115528 | EDAR,RANBP2 | c.356+2T>G (n.356+2T>G) c.407+2T>G (n.407+2T>G) c.500+2T>G (n.500+2T>G) c.8370+156150A>C (n.8370+156150A>C) | dbSNP gnomAD v4 |
2 | g.108929196A>G | CA348115529 | EDAR,RANBP2 | c.356+2T>C (n.356+2T>C) c.407+2T>C (n.407+2T>C) c.500+2T>C (n.500+2T>C) c.8370+156150A>G (n.8370+156150A>G) | |
2 | g.108929196A>T | CA348115530 | EDAR,RANBP2 | c.356+2T>A (n.356+2T>A) c.407+2T>A (n.407+2T>A) c.500+2T>A (n.500+2T>A) c.8370+156150A>T (n.8370+156150A>T) | |
2 | g.108929197C>A | CA348115531 | EDAR,RANBP2 | c.356+1G>T (n.356+1G>T) c.407+1G>T (n.407+1G>T) c.500+1G>T (n.500+1G>T) c.8370+156151C>A (n.8370+156151C>A) | |
2 | g.108929197C= | CA1278368507 | EDAR,RANBP2 | c.356+1G= (n.356+1G=) c.407+1G= (n.407+1G=) c.500+1G= (n.500+1G=) c.8370+156151C= (n.8370+156151C=) | |
2 | g.108929197C>G | CA348115532 | EDAR,RANBP2 | c.356+1G>C (n.356+1G>C) c.407+1G>C (n.407+1G>C) c.500+1G>C (n.500+1G>C) c.8370+156151C>G (n.8370+156151C>G) | |
2 | g.108929197C>T | CA348115533 | EDAR,RANBP2 | c.356+1G>A (n.356+1G>A) c.407+1G>A (n.407+1G>A) c.500+1G>A (n.500+1G>A) c.8370+156151C>T (n.8370+156151C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108929198C>A | CA348115536 | EDAR,RANBP2 | c.356G>T (p.Gly119Val) c.407G>T (p.Gly136Val) c.500G>T (p.Gly167Val) c.8370+156152C>A (n.8370+156152C>A) | |
2 | g.108929198C>G | CA348115535 | EDAR,RANBP2 | c.356G>C (p.Gly119Ala) c.407G>C (p.Gly136Ala) c.500G>C (p.Gly167Ala) c.8370+156152C>G (n.8370+156152C>G) | |
2 | g.108929198C>T | CA348115534 | EDAR,RANBP2 | c.356G>A (p.Gly119Asp) c.407G>A (p.Gly136Asp) c.500G>A (p.Gly167Asp) c.8370+156152C>T (n.8370+156152C>T) | gnomAD v4 |
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.108929199C>A | CA348115537 | EDAR,RANBP2 | c.355G>T (p.Gly119Cys) c.406G>T (p.Gly136Cys) c.499G>T (p.Gly167Cys) c.8370+156153C>A (n.8370+156153C>A) | |
2 | g.108929199C>G | CA348115538 | EDAR,RANBP2 | c.355G>C (p.Gly119Arg) c.406G>C (p.Gly136Arg) c.499G>C (p.Gly167Arg) c.8370+156153C>G (n.8370+156153C>G) | |
2 | g.108929199C>T | CA348115539 | EDAR,RANBP2 | c.355G>A (p.Gly119Ser) c.406G>A (p.Gly136Ser) c.499G>A (p.Gly167Ser) c.8370+156153C>T (n.8370+156153C>T) | |
2 | g.108929200A= | CA1278368508 | EDAR,RANBP2 | c.354T= (p.Pro118=) c.405T= (p.Pro135=) c.498T= (p.Pro166=) c.8370+156154A= (n.8370+156154A=) | |
2 | g.108929200A>C | CA428086792 | EDAR,RANBP2 | c.354T>G (p.Pro118=) c.405T>G (p.Pro135=) c.498T>G (p.Pro166=) c.8370+156154A>C (n.8370+156154A>C) | |
2 | g.108929200A>G | CA428086794 | EDAR,RANBP2 | c.354T>C (p.Pro118=) c.405T>C (p.Pro135=) c.498T>C (p.Pro166=) c.8370+156154A>G (n.8370+156154A>G) | |
2 | g.108929200A>T | CA428086795 | EDAR,RANBP2 | c.354T>A (p.Pro118=) c.405T>A (p.Pro135=) c.498T>A (p.Pro166=) c.8370+156154A>T (n.8370+156154A>T) | dbSNP |
2 | g.108929201G>A | CA348115540 | EDAR,RANBP2 | c.353C>T (p.Pro118Leu) c.404C>T (p.Pro135Leu) c.497C>T (p.Pro166Leu) c.8370+156155G>A (n.8370+156155G>A) | |
2 | g.108929201G>C | CA348115541 | EDAR,RANBP2 | c.353C>G (p.Pro118Arg) c.404C>G (p.Pro135Arg) c.497C>G (p.Pro166Arg) c.8370+156155G>C (n.8370+156155G>C) | |
2 | g.108929201G>T | CA348115542 | EDAR,RANBP2 | c.353C>A (p.Pro118His) c.404C>A (p.Pro135His) c.497C>A (p.Pro166His) c.8370+156155G>T (n.8370+156155G>T) | |
2 | g.108929202G>A | CA348115543 | EDAR,RANBP2 | c.352C>T (p.Pro118Ser) c.403C>T (p.Pro135Ser) c.496C>T (p.Pro166Ser) c.8370+156156G>A (n.8370+156156G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.108929202G>C | CA1825121 | EDAR,RANBP2 | c.352C>G (p.Pro118Ala) c.403C>G (p.Pro135Ala) c.496C>G (p.Pro166Ala) c.8370+156156G>C (n.8370+156156G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929202G= | CA1278368509 | EDAR,RANBP2 | c.352C= (p.Pro118=) c.403C= (p.Pro135=) c.496C= (p.Pro166=) c.8370+156156G= (n.8370+156156G=) | |
2 | g.108929202G>T | CA348115544 | EDAR,RANBP2 | c.352C>A (p.Pro118Thr) c.403C>A (p.Pro135Thr) c.496C>A (p.Pro166Thr) c.8370+156156G>T (n.8370+156156G>T) | |
2 | g.108929203G>A | CA428086797 | EDAR,RANBP2 | c.351C>T (p.Leu117=) c.402C>T (p.Leu134=) c.495C>T (p.Leu165=) c.8370+156157G>A (n.8370+156157G>A) | |
2 | g.108929203G>C | CA428086798 | EDAR,RANBP2 | c.351C>G (p.Leu117=) c.402C>G (p.Leu134=) c.495C>G (p.Leu165=) c.8370+156157G>C (n.8370+156157G>C) | |
2 | g.108929203G>T | CA428086799 | EDAR,RANBP2 | c.351C>A (p.Leu117=) c.402C>A (p.Leu134=) c.495C>A (p.Leu165=) c.8370+156157G>T (n.8370+156157G>T) | |
2 | g.108929204A>C | CA348115545 | EDAR,RANBP2 | c.350T>G (p.Leu117Arg) c.401T>G (p.Leu134Arg) c.494T>G (p.Leu165Arg) c.8370+156158A>C (n.8370+156158A>C) | |
2 | g.108929204A>G | CA348115546 | EDAR,RANBP2 | c.350T>C (p.Leu117Pro) c.401T>C (p.Leu134Pro) c.494T>C (p.Leu165Pro) c.8370+156158A>G (n.8370+156158A>G) | |
2 | g.108929204A>T | CA348115547 | EDAR,RANBP2 | c.350T>A (p.Leu117His) c.401T>A (p.Leu134His) c.494T>A (p.Leu165His) c.8370+156158A>T (n.8370+156158A>T) | |
2 | g.108929205G>A | CA348115550 | EDAR,RANBP2 | c.349C>T (p.Leu117Phe) c.400C>T (p.Leu134Phe) c.493C>T (p.Leu165Phe) c.8370+156159G>A (n.8370+156159G>A) | |
2 | g.108929205G>C | CA348115549 | EDAR,RANBP2 | c.349C>G (p.Leu117Val) c.400C>G (p.Leu134Val) c.493C>G (p.Leu165Val) c.8370+156159G>C (n.8370+156159G>C) | |
2 | g.108929205G>T | CA348115548 | EDAR,RANBP2 | c.349C>A (p.Leu117Ile) c.400C>A (p.Leu134Ile) c.493C>A (p.Leu165Ile) c.8370+156159G>T (n.8370+156159G>T) | |
2 | g.108929206G>A | CA428086802 | EDAR,RANBP2 | c.348C>T (p.Cys116=) c.399C>T (p.Cys133=) c.492C>T (p.Cys164=) c.8370+156160G>A (n.8370+156160G>A) | |
2 | g.108929206G>C | CA348115551 | EDAR,RANBP2 | c.348C>G (p.Cys116Trp) c.399C>G (p.Cys133Trp) c.492C>G (p.Cys164Trp) c.8370+156160G>C (n.8370+156160G>C) | |
2 | g.108929206G= | CA1278368510 | EDAR,RANBP2 | c.348C= (p.Cys116=) c.399C= (p.Cys133=) c.492C= (p.Cys164=) c.8370+156160G= (n.8370+156160G=) | |
2 | g.108929206G>T | CA348115552 | EDAR,RANBP2 | c.348C>A (p.Cys116Ter) c.399C>A (p.Cys133Ter) c.492C>A (p.Cys164Ter) c.8370+156160G>T (n.8370+156160G>T) | dbSNP gnomAD v4 |
2 | g.108929207C>A | CA348115553 | EDAR,RANBP2 | c.347G>T (p.Cys116Phe) c.398G>T (p.Cys133Phe) c.491G>T (p.Cys164Phe) c.8370+156161C>A (n.8370+156161C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108929207C= | CA1278368511 | EDAR,RANBP2 | c.347G= (p.Cys116=) c.398G= (p.Cys133=) c.491G= (p.Cys164=) c.8370+156161C= (n.8370+156161C=) | |
2 | g.108929207C>G | CA348115554 | EDAR,RANBP2 | c.347G>C (p.Cys116Ser) c.398G>C (p.Cys133Ser) c.491G>C (p.Cys164Ser) c.8370+156161C>G (n.8370+156161C>G) | gnomAD v4 |
2 | g.108929207C>T | CA348115555 | EDAR,RANBP2 | c.347G>A (p.Cys116Tyr) c.398G>A (p.Cys133Tyr) c.491G>A (p.Cys164Tyr) c.8370+156161C>T (n.8370+156161C>T) | COSMIC COSMIC |
2 | g.108929208A= | CA1278368512 | EDAR,RANBP2 | c.346T= (p.Cys116=) c.397T= (p.Cys133=) c.490T= (p.Cys164=) c.8370+156162A= (n.8370+156162A=) | |
2 | g.108929208A>C | CA348115556 | EDAR,RANBP2 | c.346T>G (p.Cys116Gly) c.397T>G (p.Cys133Gly) c.490T>G (p.Cys164Gly) c.8370+156162A>C (n.8370+156162A>C) | |
2 | g.108929208A>G | CA54012141 | EDAR,RANBP2 | c.346T>C (p.Cys116Arg) c.397T>C (p.Cys133Arg) c.490T>C (p.Cys164Arg) c.8370+156162A>G (n.8370+156162A>G) | dbSNP gnomAD v4 |
2 | g.108929208A>T | CA348115557 | EDAR,RANBP2 | c.346T>A (p.Cys116Ser) c.397T>A (p.Cys133Ser) c.490T>A (p.Cys164Ser) c.8370+156162A>T (n.8370+156162A>T) | |
2 | g.108929209A>C | CA428086803 | EDAR,RANBP2 | c.345T>G (p.Pro115=) c.396T>G (p.Pro132=) c.489T>G (p.Pro163=) c.8370+156163A>C (n.8370+156163A>C) | |
2 | g.108929209A>G | CA428086804 | EDAR,RANBP2 | c.345T>C (p.Pro115=) c.396T>C (p.Pro132=) c.489T>C (p.Pro163=) c.8370+156163A>G (n.8370+156163A>G) | |
2 | g.108929209A>T | CA428086805 | EDAR,RANBP2 | c.345T>A (p.Pro115=) c.396T>A (p.Pro132=) c.489T>A (p.Pro163=) c.8370+156163A>T (n.8370+156163A>T) | |
2 | g.108929209_108929210delinsAG | CA1278368513 | EDAR,RANBP2 | c.344_345delinsCT (p.Pro115=) c.395_396delinsCT (p.Pro132=) c.488_489delinsCT (p.Pro163=) c.8370+156163_8370+156164delinsAG (n.8370+156163_8370+156164delinsAG) | |
2 | g.108929210G>A | CA1825123 | EDAR,RANBP2 | c.344C>T (p.Pro115Leu) c.395C>T (p.Pro132Leu) c.488C>T (p.Pro163Leu) c.8370+156164G>A (n.8370+156164G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929210G>C | CA348115558 | EDAR,RANBP2 | c.344C>G (p.Pro115Arg) c.395C>G (p.Pro132Arg) c.488C>G (p.Pro163Arg) c.8370+156164G>C (n.8370+156164G>C) | |
2 | g.108929210G= | CA1278368514 | EDAR,RANBP2 | c.344C= (p.Pro115=) c.395C= (p.Pro132=) c.488C= (p.Pro163=) c.8370+156164G= (n.8370+156164G=) | |
2 | g.108929210G>T | CA348115559 | EDAR,RANBP2 | c.344C>A (p.Pro115His) c.395C>A (p.Pro132His) c.488C>A (p.Pro163His) c.8370+156164G>T (n.8370+156164G>T) | |
2 | g.108929212del | CA1825122 | EDAR,RANBP2 | c.344del (p.Pro115LeufsTer?) c.395del (p.Pro132LeufsTer?) c.488del (p.Pro163LeufsTer?) c.8370+156166del (n.8370+156166del) | dbSNP ExAC |
2 | g.108929211G>A | CA348115560 | EDAR,RANBP2 | c.343C>T (p.Pro115Ser) c.394C>T (p.Pro132Ser) c.487C>T (p.Pro163Ser) c.8370+156165G>A (n.8370+156165G>A) | dbSNP gnomAD v4 |
2 | g.108929211G>C | CA1825124 | EDAR,RANBP2 | c.343C>G (p.Pro115Ala) c.394C>G (p.Pro132Ala) c.487C>G (p.Pro163Ala) c.8370+156165G>C (n.8370+156165G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929211G= | CA1278368515 | EDAR,RANBP2 | c.343C= (p.Pro115=) c.394C= (p.Pro132=) c.487C= (p.Pro163=) c.8370+156165G= (n.8370+156165G=) | |
2 | g.108929211G>T | CA348115561 | EDAR,RANBP2 | c.343C>A (p.Pro115Thr) c.394C>A (p.Pro132Thr) c.487C>A (p.Pro163Thr) c.8370+156165G>T (n.8370+156165G>T) | |
2 | g.108929212G>A | CA54012142 | EDAR,RANBP2 | c.342C>T (p.Gly114=) c.393C>T (p.Gly131=) c.486C>T (p.Gly162=) c.8370+156166G>A (n.8370+156166G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108929212G>C | CA428086806 | EDAR,RANBP2 | c.342C>G (p.Gly114=) c.393C>G (p.Gly131=) c.486C>G (p.Gly162=) c.8370+156166G>C (n.8370+156166G>C) | |
2 | g.108929212G= | CA1278368516 | EDAR,RANBP2 | c.342C= (p.Gly114=) c.393C= (p.Gly131=) c.486C= (p.Gly162=) c.8370+156166G= (n.8370+156166G=) | |
2 | g.108929212G>T | CA428086807 | EDAR,RANBP2 | c.342C>A (p.Gly114=) c.393C>A (p.Gly131=) c.486C>A (p.Gly162=) c.8370+156166G>T (n.8370+156166G>T) | |
2 | g.108929213C>A | CA348115564 | EDAR,RANBP2 | c.341G>T (p.Gly114Val) c.392G>T (p.Gly131Val) c.485G>T (p.Gly162Val) c.8370+156167C>A (n.8370+156167C>A) | |
2 | g.108929213C>G | CA348115562 | EDAR,RANBP2 | c.341G>C (p.Gly114Ala) c.392G>C (p.Gly131Ala) c.485G>C (p.Gly162Ala) c.8370+156167C>G (n.8370+156167C>G) | |
2 | g.108929213C>T | CA348115563 | EDAR,RANBP2 | c.341G>A (p.Gly114Asp) c.392G>A (p.Gly131Asp) c.485G>A (p.Gly162Asp) c.8370+156167C>T (n.8370+156167C>T) | |
2 | g.108929214C>A | CA348115565 | EDAR,RANBP2 | c.340G>T (p.Gly114Cys) c.391G>T (p.Gly131Cys) c.484G>T (p.Gly162Cys) c.8370+156168C>A (n.8370+156168C>A) | |
2 | g.108929214C>G | CA348115566 | EDAR,RANBP2 | c.340G>C (p.Gly114Arg) c.391G>C (p.Gly131Arg) c.484G>C (p.Gly162Arg) c.8370+156168C>G (n.8370+156168C>G) | |
2 | g.108929214C>T | CA348115567 | EDAR,RANBP2 | c.340G>A (p.Gly114Ser) c.391G>A (p.Gly131Ser) c.484G>A (p.Gly162Ser) c.8370+156168C>T (n.8370+156168C>T) | |
2 | g.108929215A>C | CA348115568 | EDAR,RANBP2 | c.339T>G (p.Cys113Trp) c.390T>G (p.Cys130Trp) c.483T>G (p.Cys161Trp) c.8370+156169A>C (n.8370+156169A>C) | |
2 | g.108929215A>G | CA428086808 | EDAR,RANBP2 | c.339T>C (p.Cys113=) c.390T>C (p.Cys130=) c.483T>C (p.Cys161=) c.8370+156169A>G (n.8370+156169A>G) | |
2 | g.108929215A>T | CA348115569 | EDAR,RANBP2 | c.339T>A (p.Cys113Ter) c.390T>A (p.Cys130Ter) c.483T>A (p.Cys161Ter) c.8370+156169A>T (n.8370+156169A>T) | |
2 | g.108929216C>A | CA348115570 | EDAR,RANBP2 | c.338G>T (p.Cys113Phe) c.389G>T (p.Cys130Phe) c.482G>T (p.Cys161Phe) c.8370+156170C>A (n.8370+156170C>A) | |
2 | g.108929216C= | CA1278368517 | EDAR,RANBP2 | c.338G= (p.Cys113=) c.389G= (p.Cys130=) c.482G= (p.Cys161=) c.8370+156170C= (n.8370+156170C=) | |
2 | g.108929216C>G | CA348115571 | EDAR,RANBP2 | c.338G>C (p.Cys113Ser) c.389G>C (p.Cys130Ser) c.482G>C (p.Cys161Ser) c.8370+156170C>G (n.8370+156170C>G) | |
2 | g.108929216C>T | CA348115572 | EDAR,RANBP2 | c.338G>A (p.Cys113Tyr) c.389G>A (p.Cys130Tyr) c.482G>A (p.Cys161Tyr) c.8370+156170C>T (n.8370+156170C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929217A>C | CA348115573 | EDAR,RANBP2 | c.337T>G (p.Cys113Gly) c.388T>G (p.Cys130Gly) c.481T>G (p.Cys161Gly) c.8370+156171A>C (n.8370+156171A>C) | |
2 | g.108929217A>G | CA348115574 | EDAR,RANBP2 | c.337T>C (p.Cys113Arg) c.388T>C (p.Cys130Arg) c.481T>C (p.Cys161Arg) c.8370+156171A>G (n.8370+156171A>G) | |
2 | g.108929217A>T | CA348115575 | EDAR,RANBP2 | c.337T>A (p.Cys113Ser) c.388T>A (p.Cys130Ser) c.481T>A (p.Cys161Ser) c.8370+156171A>T (n.8370+156171A>T) | |
2 | g.108929218C>A | CA348115576 | EDAR,RANBP2 | c.336G>T (p.Glu112Asp) c.387G>T (p.Glu129Asp) c.480G>T (p.Glu160Asp) c.8370+156172C>A (n.8370+156172C>A) | gnomAD v4 |
2 | g.108929218C>G | CA348115577 | EDAR,RANBP2 | c.336G>C (p.Glu112Asp) c.387G>C (p.Glu129Asp) c.480G>C (p.Glu160Asp) c.8370+156172C>G (n.8370+156172C>G) | |
2 | g.108929218C>T | CA428086809 | EDAR,RANBP2 | c.336G>A (p.Glu112=) c.387G>A (p.Glu129=) c.480G>A (p.Glu160=) c.8370+156172C>T (n.8370+156172C>T) | |
2 | g.108929219T>A | CA348115580 | EDAR,RANBP2 | c.335A>T (p.Glu112Val) c.386A>T (p.Glu129Val) c.479A>T (p.Glu160Val) c.8370+156173T>A (n.8370+156173T>A) | |
2 | g.108929219T>C | CA348115578 | EDAR,RANBP2 | c.335A>G (p.Glu112Gly) c.386A>G (p.Glu129Gly) c.479A>G (p.Glu160Gly) c.8370+156173T>C (n.8370+156173T>C) | |
2 | g.108929219T>G | CA348115579 | EDAR,RANBP2 | c.335A>C (p.Glu112Ala) c.386A>C (p.Glu129Ala) c.479A>C (p.Glu160Ala) c.8370+156173T>G (n.8370+156173T>G) | dbSNP |
2 | g.108929219T= | CA1278368518 | EDAR,RANBP2 | c.335A= (p.Glu112=) c.386A= (p.Glu129=) c.479A= (p.Glu160=) c.8370+156173T= (n.8370+156173T=) | |
2 | g.108929220C>A | CA348115581 | EDAR,RANBP2 | c.334G>T (p.Glu112Ter) c.385G>T (p.Glu129Ter) c.478G>T (p.Glu160Ter) c.8370+156174C>A (n.8370+156174C>A) | dbSNP gnomAD v2 |
2 | g.108929220C= | CA1278368519 | EDAR,RANBP2 | c.334G= (p.Glu112=) c.385G= (p.Glu129=) c.478G= (p.Glu160=) c.8370+156174C= (n.8370+156174C=) | |
2 | g.108929220C>G | CA348115582 | EDAR,RANBP2 | c.334G>C (p.Glu112Gln) c.385G>C (p.Glu129Gln) c.478G>C (p.Glu160Gln) c.8370+156174C>G (n.8370+156174C>G) | |
2 | g.108929220C>T | CA348115583 | EDAR,RANBP2 | c.334G>A (p.Glu112Lys) c.385G>A (p.Glu129Lys) c.478G>A (p.Glu160Lys) c.8370+156174C>T (n.8370+156174C>T) | |
2 | g.108929221A= | CA1278368520 | EDAR,RANBP2 | c.333T= (p.Ala111=) c.384T= (p.Ala128=) c.477T= (p.Ala159=) c.8370+156175A= (n.8370+156175A=) | |
2 | g.108929221A>C | CA428086810 | EDAR,RANBP2 | c.333T>G (p.Ala111=) c.384T>G (p.Ala128=) c.477T>G (p.Ala159=) c.8370+156175A>C (n.8370+156175A>C) | |
2 | g.108929221A>G | CA1825125 | EDAR,RANBP2 | c.333T>C (p.Ala111=) c.384T>C (p.Ala128=) c.477T>C (p.Ala159=) c.8370+156175A>G (n.8370+156175A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929221A>T | CA428086811 | EDAR,RANBP2 | c.333T>A (p.Ala111=) c.384T>A (p.Ala128=) c.477T>A (p.Ala159=) c.8370+156175A>T (n.8370+156175A>T) | |
2 | g.108929222G>A | CA348115584 | EDAR,RANBP2 | c.332C>T (p.Ala111Val) c.383C>T (p.Ala128Val) c.476C>T (p.Ala159Val) c.8370+156176G>A (n.8370+156176G>A) | |
2 | g.108929222G>C | CA348115585 | EDAR,RANBP2 | c.332C>G (p.Ala111Gly) c.383C>G (p.Ala128Gly) c.476C>G (p.Ala159Gly) c.8370+156176G>C (n.8370+156176G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108929222G= | CA1278368521 | EDAR,RANBP2 | c.332C= (p.Ala111=) c.383C= (p.Ala128=) c.476C= (p.Ala159=) c.8370+156176G= (n.8370+156176G=) | |
2 | g.108929222G>T | CA348115586 | EDAR,RANBP2 | c.332C>A (p.Ala111Asp) c.383C>A (p.Ala128Asp) c.476C>A (p.Ala159Asp) c.8370+156176G>T (n.8370+156176G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108929223_108929224dup | CA2660611275 | EDAR,RANBP2 | c.331_332dup (p.Glu112LeufsTer?) c.382_383dup (p.Glu129LeufsTer?) c.475_476dup (p.Glu160LeufsTer?) c.8370+156177_8370+156178dup (n.8370+156177_8370+156178dup) | gnomAD v4 |
2 | g.108929223C>A | CA1825126 | EDAR,RANBP2 | c.331G>T (p.Ala111Ser) c.382G>T (p.Ala128Ser) c.475G>T (p.Ala159Ser) c.8370+156177C>A (n.8370+156177C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929223C= | CA1278368522 | EDAR,RANBP2 | c.331G= (p.Ala111=) c.382G= (p.Ala128=) c.475G= (p.Ala159=) c.8370+156177C= (n.8370+156177C=) | |
2 | g.108929223C>G | CA348115587 | EDAR,RANBP2 | c.331G>C (p.Ala111Pro) c.382G>C (p.Ala128Pro) c.475G>C (p.Ala159Pro) c.8370+156177C>G (n.8370+156177C>G) | |
2 | g.108929223C>T | CA348115588 | EDAR,RANBP2 | c.331G>A (p.Ala111Thr) c.382G>A (p.Ala128Thr) c.475G>A (p.Ala159Thr) c.8370+156177C>T (n.8370+156177C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108929224G>A | CA1825127 | EDAR,RANBP2 | c.330C>T (p.Asp110=) c.381C>T (p.Asp127=) c.474C>T (p.Asp158=) c.8370+156178G>A (n.8370+156178G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929224G>C | CA348115589 | EDAR,RANBP2 | c.330C>G (p.Asp110Glu) c.381C>G (p.Asp127Glu) c.474C>G (p.Asp158Glu) c.8370+156178G>C (n.8370+156178G>C) | |
2 | g.108929224G= | CA1278368523 | EDAR,RANBP2 | c.330C= (p.Asp110=) c.381C= (p.Asp127=) c.474C= (p.Asp158=) c.8370+156178G= (n.8370+156178G=) | |
2 | g.108929224G>T | CA348115590 | EDAR,RANBP2 | c.330C>A (p.Asp110Glu) c.381C>A (p.Asp127Glu) c.474C>A (p.Asp158Glu) c.8370+156178G>T (n.8370+156178G>T) | |
2 | g.108929225T>A | CA348115592 | EDAR,RANBP2 | c.329A>T (p.Asp110Val) c.380A>T (p.Asp127Val) c.473A>T (p.Asp158Val) c.8370+156179T>A (n.8370+156179T>A) | |
2 | g.108929225T>C | CA348115591 | EDAR,RANBP2 | c.329A>G (p.Asp110Gly) c.380A>G (p.Asp127Gly) c.473A>G (p.Asp158Gly) c.8370+156179T>C (n.8370+156179T>C) | |
2 | g.108929225T>G | CA253632 | EDAR,RANBP2 | c.329A>C (p.Asp110Ala) c.380A>C (p.Asp127Ala) c.473A>C (p.Asp158Ala) c.8370+156179T>G (n.8370+156179T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108929225T= | CA1278368524 | EDAR,RANBP2 | c.329A= (p.Asp110=) c.380A= (p.Asp127=) c.473A= (p.Asp158=) c.8370+156179T= (n.8370+156179T=) | |
2 | g.108929226C>A | CA348115593 | EDAR,RANBP2 | c.328G>T (p.Asp110Tyr) c.379G>T (p.Asp127Tyr) c.472G>T (p.Asp158Tyr) c.8370+156180C>A (n.8370+156180C>A) | |
2 | g.108929226C= | CA1278368525 | EDAR,RANBP2 | c.328G= (p.Asp110=) c.379G= (p.Asp127=) c.472G= (p.Asp158=) c.8370+156180C= (n.8370+156180C=) | |
2 | g.108929226C>G | CA348115594 | EDAR,RANBP2 | c.328G>C (p.Asp110His) c.379G>C (p.Asp127His) c.472G>C (p.Asp158His) c.8370+156180C>G (n.8370+156180C>G) | |
2 | g.108929226C>T | CA348115595 | EDAR,RANBP2 | c.328G>A (p.Asp110Asn) c.379G>A (p.Asp127Asn) c.472G>A (p.Asp158Asn) c.8370+156180C>T (n.8370+156180C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.108929227A>C | CA348115596 | EDAR,RANBP2 | c.327T>G (p.Asn109Lys) c.378T>G (p.Asn126Lys) c.471T>G (p.Asn157Lys) c.8370+156181A>C (n.8370+156181A>C) | |
2 | g.108929227A>G | CA428086812 | EDAR,RANBP2 | c.327T>C (p.Asn109=) c.378T>C (p.Asn126=) c.471T>C (p.Asn157=) c.8370+156181A>G (n.8370+156181A>G) | |
2 | g.108929227A>T | CA348115597 | EDAR,RANBP2 | c.327T>A (p.Asn109Lys) c.378T>A (p.Asn126Lys) c.471T>A (p.Asn157Lys) c.8370+156181A>T (n.8370+156181A>T) | |
2 | g.108929228T>A | CA348115598 | EDAR,RANBP2 | c.326A>T (p.Asn109Ile) c.377A>T (p.Asn126Ile) c.470A>T (p.Asn157Ile) c.8370+156182T>A (n.8370+156182T>A) | dbSNP |
2 | g.108929228T>C | CA348115599 | EDAR,RANBP2 | c.326A>G (p.Asn109Ser) c.377A>G (p.Asn126Ser) c.470A>G (p.Asn157Ser) c.8370+156182T>C (n.8370+156182T>C) | |
2 | g.108929228T>G | CA348115600 | EDAR,RANBP2 | c.326A>C (p.Asn109Thr) c.377A>C (p.Asn126Thr) c.470A>C (p.Asn157Thr) c.8370+156182T>G (n.8370+156182T>G) | |
2 | g.108929228T= | CA1278368526 | EDAR,RANBP2 | c.326A= (p.Asn109=) c.377A= (p.Asn126=) c.470A= (p.Asn157=) c.8370+156182T= (n.8370+156182T=) | |
2 | g.108929229T>A | CA348115601 | EDAR,RANBP2 | c.325A>T (p.Asn109Tyr) c.376A>T (p.Asn126Tyr) c.469A>T (p.Asn157Tyr) c.8370+156183T>A (n.8370+156183T>A) | dbSNP |
2 | g.108929229T>C | CA348115602 | EDAR,RANBP2 | c.325A>G (p.Asn109Asp) c.376A>G (p.Asn126Asp) c.469A>G (p.Asn157Asp) c.8370+156183T>C (n.8370+156183T>C) | |
2 | g.108929229T>G | CA348115603 | EDAR,RANBP2 | c.325A>C (p.Asn109His) c.376A>C (p.Asn126His) c.469A>C (p.Asn157His) c.8370+156183T>G (n.8370+156183T>G) | |
2 | g.108929229T= | CA1278368527 | EDAR,RANBP2 | c.325A= (p.Asn109=) c.376A= (p.Asn126=) c.469A= (p.Asn157=) c.8370+156183T= (n.8370+156183T=) | |
2 | g.108929230C>A | CA348115604 | EDAR,RANBP2 | c.324G>T (p.Glu108Asp) c.375G>T (p.Glu125Asp) c.468G>T (p.Glu156Asp) c.8370+156184C>A (n.8370+156184C>A) | |
2 | g.108929230C>G | CA348115605 | EDAR,RANBP2 | c.324G>C (p.Glu108Asp) c.375G>C (p.Glu125Asp) c.468G>C (p.Glu156Asp) c.8370+156184C>G (n.8370+156184C>G) | |
2 | g.108929230C>T | CA428086813 | EDAR,RANBP2 | c.324G>A (p.Glu108=) c.375G>A (p.Glu125=) c.468G>A (p.Glu156=) c.8370+156184C>T (n.8370+156184C>T) | COSMIC |
2 | g.108929231T>A | CA348115607 | EDAR,RANBP2 | c.323A>T (p.Glu108Val) c.374A>T (p.Glu125Val) c.467A>T (p.Glu156Val) c.8370+156185T>A (n.8370+156185T>A) | |
2 | g.108929231T>C | CA348115608 | EDAR,RANBP2 | c.323A>G (p.Glu108Gly) c.374A>G (p.Glu125Gly) c.467A>G (p.Glu156Gly) c.8370+156185T>C (n.8370+156185T>C) | |
2 | g.108929231T>G | CA348115606 | EDAR,RANBP2 | c.323A>C (p.Glu108Ala) c.374A>C (p.Glu125Ala) c.467A>C (p.Glu156Ala) c.8370+156185T>G (n.8370+156185T>G) | |
2 | g.108929232C>A | CA348115609 | EDAR,RANBP2 | c.322G>T (p.Glu108Ter) c.373G>T (p.Glu125Ter) c.466G>T (p.Glu156Ter) c.8370+156186C>A (n.8370+156186C>A) | |
2 | g.108929232C>G | CA348115610 | EDAR,RANBP2 | c.322G>C (p.Glu108Gln) c.373G>C (p.Glu125Gln) c.466G>C (p.Glu156Gln) c.8370+156186C>G (n.8370+156186C>G) | gnomAD v4 |
2 | g.108929232C>T | CA348115611 | EDAR,RANBP2 | c.322G>A (p.Glu108Lys) c.373G>A (p.Glu125Lys) c.466G>A (p.Glu156Lys) c.8370+156186C>T (n.8370+156186C>T) | |
2 | g.108929233C>A | CA348115612 | EDAR,RANBP2 | c.321G>T (p.Met107Ile) c.372G>T (p.Met124Ile) c.465G>T (p.Met155Ile) c.8370+156187C>A (n.8370+156187C>A) | |
2 | g.108929233C>G | CA348115613 | EDAR,RANBP2 | c.321G>C (p.Met107Ile) c.372G>C (p.Met124Ile) c.465G>C (p.Met155Ile) c.8370+156187C>G (n.8370+156187C>G) | |
2 | g.108929233C>T | CA348115614 | EDAR,RANBP2 | c.321G>A (p.Met107Ile) c.372G>A (p.Met124Ile) c.465G>A (p.Met155Ile) c.8370+156187C>T (n.8370+156187C>T) | ClinVar gnomAD v4 |
2 | g.108929234A= | CA1278368528 | EDAR,RANBP2 | c.320T= (p.Met107=) c.371T= (p.Met124=) c.464T= (p.Met155=) c.8370+156188A= (n.8370+156188A=) | |
2 | g.108929234A>C | CA348115617 | EDAR,RANBP2 | c.320T>G (p.Met107Arg) c.371T>G (p.Met124Arg) c.464T>G (p.Met155Arg) c.8370+156188A>C (n.8370+156188A>C) | |
2 | g.108929234A>G | CA348115615 | EDAR,RANBP2 | c.320T>C (p.Met107Thr) c.371T>C (p.Met124Thr) c.464T>C (p.Met155Thr) c.8370+156188A>G (n.8370+156188A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108929234A>T | CA348115616 | EDAR,RANBP2 | c.320T>A (p.Met107Lys) c.371T>A (p.Met124Lys) c.464T>A (p.Met155Lys) c.8370+156188A>T (n.8370+156188A>T) | |
2 | g.108929235T>A | CA348115618 | EDAR,RANBP2 | c.319A>T (p.Met107Leu) c.370A>T (p.Met124Leu) c.463A>T (p.Met155Leu) c.8370+156189T>A (n.8370+156189T>A) | |
2 | g.108929235T>C | CA1825128 | EDAR,RANBP2 | c.319A>G (p.Met107Val) c.370A>G (p.Met124Val) c.463A>G (p.Met155Val) c.8370+156189T>C (n.8370+156189T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929235T>G | CA348115619 | EDAR,RANBP2 | c.319A>C (p.Met107Leu) c.370A>C (p.Met124Leu) c.463A>C (p.Met155Leu) c.8370+156189T>G (n.8370+156189T>G) | |
2 | g.108929235T= | CA1278368529 | EDAR,RANBP2 | c.319A= (p.Met107=) c.370A= (p.Met124=) c.463A= (p.Met155=) c.8370+156189T= (n.8370+156189T=) | |
2 | g.108929236G>A | CA428086815 | EDAR,RANBP2 | c.318C>T (p.Asp106=) c.369C>T (p.Asp123=) c.462C>T (p.Asp154=) c.8370+156190G>A (n.8370+156190G>A) | gnomAD v4 |
2 | g.108929236G>C | CA348115620 | EDAR,RANBP2 | c.318C>G (p.Asp106Glu) c.369C>G (p.Asp123Glu) c.462C>G (p.Asp154Glu) c.8370+156190G>C (n.8370+156190G>C) | |
2 | g.108929236G>T | CA348115621 | EDAR,RANBP2 | c.318C>A (p.Asp106Glu) c.369C>A (p.Asp123Glu) c.462C>A (p.Asp154Glu) c.8370+156190G>T (n.8370+156190G>T) | COSMIC COSMIC |
2 | g.108929237T>A | CA348115623 | EDAR,RANBP2 | c.317A>T (p.Asp106Val) c.368A>T (p.Asp123Val) c.461A>T (p.Asp154Val) c.8370+156191T>A (n.8370+156191T>A) | |
2 | g.108929237T>C | CA1825129 | EDAR,RANBP2 | c.317A>G (p.Asp106Gly) c.368A>G (p.Asp123Gly) c.461A>G (p.Asp154Gly) c.8370+156191T>C (n.8370+156191T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108929237T>G | CA348115622 | EDAR,RANBP2 | c.317A>C (p.Asp106Ala) c.368A>C (p.Asp123Ala) c.461A>C (p.Asp154Ala) c.8370+156191T>G (n.8370+156191T>G) | |
2 | g.108929237T= | CA1278368530 | EDAR,RANBP2 | c.317A= (p.Asp106=) c.368A= (p.Asp123=) c.461A= (p.Asp154=) c.8370+156191T= (n.8370+156191T=) | |
2 | g.108929238C>A | CA348115624 | EDAR,RANBP2 | c.316G>T (p.Asp106Tyr) c.367G>T (p.Asp123Tyr) c.460G>T (p.Asp154Tyr) c.8370+156192C>A (n.8370+156192C>A) | |
2 | g.108929238C>G | CA348115625 | EDAR,RANBP2 | c.316G>C (p.Asp106His) c.367G>C (p.Asp123His) c.460G>C (p.Asp154His) c.8370+156192C>G (n.8370+156192C>G) | |
2 | g.108929238C>T | CA348115626 | EDAR,RANBP2 | c.316G>A (p.Asp106Asn) c.367G>A (p.Asp123Asn) c.460G>A (p.Asp154Asn) c.8370+156192C>T (n.8370+156192C>T) | gnomAD v4 |
2 | g.108929239C>A | CA428086816 | EDAR,RANBP2 | c.315G>T (p.Gly105=) c.366G>T (p.Gly122=) c.459G>T (p.Gly153=) c.8370+156193C>A (n.8370+156193C>A) | gnomAD v4 |
2 | g.108929239C= | CA1278368531 | EDAR,RANBP2 | c.315G= (p.Gly105=) c.366G= (p.Gly122=) c.459G= (p.Gly153=) c.8370+156193C= (n.8370+156193C=) | |
2 | g.108929239C>G | CA428086817 | EDAR,RANBP2 | c.315G>C (p.Gly105=) c.366G>C (p.Gly122=) c.459G>C (p.Gly153=) c.8370+156193C>G (n.8370+156193C>G) | |
2 | g.108929239C>T | CA54012143 | EDAR,RANBP2 | c.315G>A (p.Gly105=) c.366G>A (p.Gly122=) c.459G>A (p.Gly153=) c.8370+156193C>T (n.8370+156193C>T) | dbSNP |
2 | g.108929240C>A | CA348115627 | EDAR,RANBP2 | c.314G>T (p.Gly105Val) c.365G>T (p.Gly122Val) c.458G>T (p.Gly153Val) c.8370+156194C>A (n.8370+156194C>A) | |
2 | g.108929240C= | CA1278368532 | EDAR,RANBP2 | c.314G= (p.Gly105=) c.365G= (p.Gly122=) c.458G= (p.Gly153=) c.8370+156194C= (n.8370+156194C=) | |
2 | g.108929240C>G | CA348115628 | EDAR,RANBP2 | c.314G>C (p.Gly105Ala) c.365G>C (p.Gly122Ala) c.458G>C (p.Gly153Ala) c.8370+156194C>G (n.8370+156194C>G) | |
2 | g.108929240C>T | CA348115629 | EDAR,RANBP2 | c.314G>A (p.Gly105Glu) c.365G>A (p.Gly122Glu) c.458G>A (p.Gly153Glu) c.8370+156194C>T (n.8370+156194C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108929241C>A | CA348115630 | EDAR,RANBP2 | c.313G>T (p.Gly105Trp) c.364G>T (p.Gly122Trp) c.457G>T (p.Gly153Trp) c.8370+156195C>A (n.8370+156195C>A) | |
2 | g.108929241C>G | CA348115631 | EDAR,RANBP2 | c.313G>C (p.Gly105Arg) c.364G>C (p.Gly122Arg) c.457G>C (p.Gly153Arg) c.8370+156195C>G (n.8370+156195C>G) | gnomAD v4 |
2 | g.108929241C>T | CA348115632 | EDAR,RANBP2 | c.313G>A (p.Gly105Arg) c.364G>A (p.Gly122Arg) c.457G>A (p.Gly153Arg) c.8370+156195C>T (n.8370+156195C>T) | |
2 | g.108929242T>A | CA428086818 | EDAR,RANBP2 | c.312A>T (p.Pro104=) c.363A>T (p.Pro121=) c.456A>T (p.Pro152=) c.8370+156196T>A (n.8370+156196T>A) | |
2 | g.108929242T>C | CA428086820 | EDAR,RANBP2 | c.312A>G (p.Pro104=) c.363A>G (p.Pro121=) c.456A>G (p.Pro152=) c.8370+156196T>C (n.8370+156196T>C) | |
2 | g.108929242T>G | CA428086819 | EDAR,RANBP2 | c.312A>C (p.Pro104=) c.363A>C (p.Pro121=) c.456A>C (p.Pro152=) c.8370+156196T>G (n.8370+156196T>G) | |
2 | g.108929243G>A | CA348115633 | EDAR,RANBP2 | c.311C>T (p.Pro104Leu) c.362C>T (p.Pro121Leu) c.455C>T (p.Pro152Leu) c.8370+156197G>A (n.8370+156197G>A) | |
2 | g.108929243G>C | CA348115634 | EDAR,RANBP2 | c.311C>G (p.Pro104Arg) c.362C>G (p.Pro121Arg) c.455C>G (p.Pro152Arg) c.8370+156197G>C (n.8370+156197G>C) | |
2 | g.108929243G>T | CA348115635 | EDAR,RANBP2 | c.311C>A (p.Pro104Gln) c.362C>A (p.Pro121Gln) c.455C>A (p.Pro152Gln) c.8370+156197G>T (n.8370+156197G>T) | |
2 | g.108929244G>A | CA348115636 | EDAR,RANBP2 | c.310C>T (p.Pro104Ser) c.361C>T (p.Pro121Ser) c.454C>T (p.Pro152Ser) c.8370+156198G>A (n.8370+156198G>A) | |
2 | g.108929244G>C | CA348115638 | EDAR,RANBP2 | c.310C>G (p.Pro104Ala) c.361C>G (p.Pro121Ala) c.454C>G (p.Pro152Ala) c.8370+156198G>C (n.8370+156198G>C) | |
2 | g.108929244G>T | CA348115637 | EDAR,RANBP2 | c.310C>A (p.Pro104Thr) c.361C>A (p.Pro121Thr) c.454C>A (p.Pro152Thr) c.8370+156198G>T (n.8370+156198G>T) | |
2 | g.108929245T>A | CA428086821 | EDAR,RANBP2 | c.309A>T (p.Thr103=) c.360A>T (p.Thr120=) c.453A>T (p.Thr151=) c.8370+156199T>A (n.8370+156199T>A) | |
2 | g.108929245T>C | CA428086822 | EDAR,RANBP2 | c.309A>G (p.Thr103=) c.360A>G (p.Thr120=) c.453A>G (p.Thr151=) c.8370+156199T>C (n.8370+156199T>C) | |
2 | g.108929245T>G | CA428086823 | EDAR,RANBP2 | c.309A>C (p.Thr103=) c.360A>C (p.Thr120=) c.453A>C (p.Thr151=) c.8370+156199T>G (n.8370+156199T>G) | |
2 | g.108929245dup | CA2700333675 | EDAR,RANBP2 | c.309dup (p.Pro104ThrfsTer7) c.360dup (p.Pro121ThrfsTer7) c.453dup (p.Pro152ThrfsTer7) c.8370+156199dup (n.8370+156199dup) | dbSNP |
2 | g.108929246G>A | CA348115639 | EDAR,RANBP2 | c.308C>T (p.Thr103Ile) c.359C>T (p.Thr120Ile) c.452C>T (p.Thr151Ile) c.8370+156200G>A (n.8370+156200G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929246G>C | CA348115640 | EDAR,RANBP2 | c.308C>G (p.Thr103Arg) c.359C>G (p.Thr120Arg) c.452C>G (p.Thr151Arg) c.8370+156200G>C (n.8370+156200G>C) | |
2 | g.108929246G= | CA1278368533 | EDAR,RANBP2 | c.308C= (p.Thr103=) c.359C= (p.Thr120=) c.452C= (p.Thr151=) c.8370+156200G= (n.8370+156200G=) | |
2 | g.108929246G>T | CA348115641 | EDAR,RANBP2 | c.308C>A (p.Thr103Lys) c.359C>A (p.Thr120Lys) c.452C>A (p.Thr151Lys) c.8370+156200G>T (n.8370+156200G>T) | |
2 | g.108929247T>A | CA348115642 | EDAR,RANBP2 | c.307A>T (p.Thr103Ser) c.358A>T (p.Thr120Ser) c.451A>T (p.Thr151Ser) c.8370+156201T>A (n.8370+156201T>A) | |
2 | g.108929247T>C | CA348115643 | EDAR,RANBP2 | c.307A>G (p.Thr103Ala) c.358A>G (p.Thr120Ala) c.451A>G (p.Thr151Ala) c.8370+156201T>C (n.8370+156201T>C) | |
2 | g.108929247T>G | CA348115644 | EDAR,RANBP2 | c.307A>C (p.Thr103Pro) c.358A>C (p.Thr120Pro) c.451A>C (p.Thr151Pro) c.8370+156201T>G (n.8370+156201T>G) | |
2 | g.108929248C>A | CA428086824 | EDAR,RANBP2 | c.306G>T (p.Leu102=) c.357G>T (p.Leu119=) c.450G>T (p.Leu150=) c.8370+156202C>A (n.8370+156202C>A) | |
2 | g.108929248C= | CA1278368534 | EDAR,RANBP2 | c.306G= (p.Leu102=) c.357G= (p.Leu119=) c.450G= (p.Leu150=) c.8370+156202C= (n.8370+156202C=) | |
2 | g.108929248C>G | CA428086825 | EDAR,RANBP2 | c.306G>C (p.Leu102=) c.357G>C (p.Leu119=) c.450G>C (p.Leu150=) c.8370+156202C>G (n.8370+156202C>G) | |
2 | g.108929248C>T | CA54012144 | EDAR,RANBP2 | c.306G>A (p.Leu102=) c.357G>A (p.Leu119=) c.450G>A (p.Leu150=) c.8370+156202C>T (n.8370+156202C>T) | dbSNP |
2 | g.108929249A>C | CA348115645 | EDAR,RANBP2 | c.305T>G (p.Leu102Arg) c.356T>G (p.Leu119Arg) c.449T>G (p.Leu150Arg) c.8370+156203A>C (n.8370+156203A>C) | |
2 | g.108929249A>G | CA348115646 | EDAR,RANBP2 | c.305T>C (p.Leu102Pro) c.356T>C (p.Leu119Pro) c.449T>C (p.Leu150Pro) c.8370+156203A>G (n.8370+156203A>G) | |
2 | g.108929249A>T | CA348115647 | EDAR,RANBP2 | c.305T>A (p.Leu102Gln) c.356T>A (p.Leu119Gln) c.449T>A (p.Leu150Gln) c.8370+156203A>T (n.8370+156203A>T) |