Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.108896895C>A | CA2660593308 | EDAR,RANBP2 | c.*12G>T (n.*12G>T) c.8370+123849C>A (n.8370+123849C>A) | gnomAD v4 |
2 | g.108896895C= | CA1278354179 | EDAR,RANBP2 | c.*12G= (n.*12G=) c.8370+123849C= (n.8370+123849C=) | |
2 | g.108896895C>G | CA1824777 | EDAR,RANBP2 | c.*12G>C (n.*12G>C) c.8370+123849C>G (n.8370+123849C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896895C>T | CA2577065491 | EDAR,RANBP2 | c.*12G>A (n.*12G>A) c.8370+123849C>T (n.8370+123849C>T) | gnomAD v4 |
2 | g.108896895_108896896delinsCA | CA1278354178 | EDAR,RANBP2 | c.*11_*12delinsTG (n.*11_*12delinsTG) c.8370+123849_8370+123850delinsCA (n.8370+123849_8370+123850delinsCA) | |
2 | g.108896896del | CA1824778 | EDAR,RANBP2 | c.*11del (n.*11del) c.8370+123850del (n.8370+123850del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896896A= | CA1278354180 | EDAR,RANBP2 | c.*11T= (n.*11T=) c.8370+123850A= (n.8370+123850A=) | |
2 | g.108896896A>G | CA1278354181 | EDAR,RANBP2 | c.*11T>C (n.*11T>C) c.8370+123850A>G (n.8370+123850A>G) | dbSNP |
2 | g.108896898del | CA348047390 | EDAR,RANBP2 | c.*10del (n.*10del) c.8370+123852del (n.8370+123852del) | |
2 | g.108896898G>A | CA2660593310 | EDAR,RANBP2 | c.*9C>T (n.*9C>T) c.8370+123852G>A (n.8370+123852G>A) | gnomAD v4 |
2 | g.108896898G>C | CA1824779 | EDAR,RANBP2 | c.*9C>G (n.*9C>G) c.8370+123852G>C (n.8370+123852G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896898G= | CA1278354182 | EDAR,RANBP2 | c.*9C= (n.*9C=) c.8370+123852G= (n.8370+123852G=) | |
2 | g.108896899C>A | CA2660593312 | EDAR,RANBP2 | c.*8G>T (n.*8G>T) c.8370+123853C>A (n.8370+123853C>A) | gnomAD v4 |
2 | g.108896900A>G | CA2660593313 | EDAR,RANBP2 | c.*7T>C (n.*7T>C) c.8370+123854A>G (n.8370+123854A>G) | gnomAD v4 |
2 | g.108896901T>A | CA2660593315 | EDAR,RANBP2 | c.*6A>T (n.*6A>T) c.8370+123855T>A (n.8370+123855T>A) | gnomAD v4 |
2 | g.108896901T>C | CA2660593316 | EDAR,RANBP2 | c.*6A>G (n.*6A>G) c.8370+123855T>C (n.8370+123855T>C) | gnomAD v4 |
2 | g.108896901_108896902delinsTG | CA1278354183 | EDAR,RANBP2 | c.*5_*6delinsCA (n.*5_*6delinsCA) c.8370+123855_8370+123856delinsTG (n.8370+123855_8370+123856delinsTG) | |
2 | g.108896902del | CA1278354184 | EDAR,RANBP2 | c.*5del (n.*5del) c.8370+123856del (n.8370+123856del) | dbSNP |
2 | g.108896902G>C | CA1278354186 | EDAR,RANBP2 | c.*5C>G (n.*5C>G) c.8370+123856G>C (n.8370+123856G>C) | dbSNP |
2 | g.108896902G= | CA1278354185 | EDAR,RANBP2 | c.*5C= (n.*5C=) c.8370+123856G= (n.8370+123856G=) | |
2 | g.108896903C= | CA1278354187 | EDAR,RANBP2 | c.*4G= (n.*4G=) c.8370+123857C= (n.8370+123857C=) | |
2 | g.108896903C>T | CA2660593317 | EDAR,RANBP2 | c.*4G>A (n.*4G>A) c.8370+123857C>T (n.8370+123857C>T) | gnomAD v4 |
2 | g.108896907dup | CA535593630 | EDAR,RANBP2 | c.*3dup (n.*3dup) c.8370+123861dup (n.8370+123861dup) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108896907T>A | CA348047398 | EDAR,RANBP2 | c.1347A>T (p.Ter449Cys) c.1443A>T (p.Ter481Cys) c.1494A>T (p.Ter498Cys) c.1398A>T (p.Ter466Cys) c.774A>T (p.Ter258Cys) c.1587A>T (p.Ter529Cys) c.1491A>T (p.Ter497Cys) c.8370+123861T>A (n.8370+123861T>A) | |
2 | g.108896907T>C | CA348047394 | EDAR,RANBP2 | c.1347A>G (p.Ter449Trp) c.1443A>G (p.Ter481Trp) c.1494A>G (p.Ter498Trp) c.1398A>G (p.Ter466Trp) c.774A>G (p.Ter258Trp) c.1587A>G (p.Ter529Trp) c.1491A>G (p.Ter497Trp) c.8370+123861T>C (n.8370+123861T>C) | |
2 | g.108896907T>G | CA348047396 | EDAR,RANBP2 | c.1347A>C (p.Ter449Cys) c.1443A>C (p.Ter481Cys) c.1494A>C (p.Ter498Cys) c.1398A>C (p.Ter466Cys) c.774A>C (p.Ter258Cys) c.1587A>C (p.Ter529Cys) c.1491A>C (p.Ter497Cys) c.8370+123861T>G (n.8370+123861T>G) | |
2 | g.108896908C>A | CA348047400 | EDAR,RANBP2 | c.1346G>T (p.Ter449Leu) c.1442G>T (p.Ter481Leu) c.1493G>T (p.Ter498Leu) c.1397G>T (p.Ter466Leu) c.773G>T (p.Ter258Leu) c.1586G>T (p.Ter529Leu) c.1490G>T (p.Ter497Leu) c.8370+123862C>A (n.8370+123862C>A) | |
2 | g.108896908C>G | CA348047402 | EDAR,RANBP2 | c.1346G>C (p.Ter449Ser) c.1442G>C (p.Ter481Ser) c.1493G>C (p.Ter498Ser) c.1397G>C (p.Ter466Ser) c.773G>C (p.Ter258Ser) c.1586G>C (p.Ter529Ser) c.1490G>C (p.Ter497Ser) c.8370+123862C>G (n.8370+123862C>G) | |
2 | g.108896908C>T | CA428203857 | EDAR,RANBP2 | c.1346G>A (p.Ter449=) c.1442G>A (p.Ter481=) c.1493G>A (p.Ter498=) c.1397G>A (p.Ter466=) c.773G>A (p.Ter258=) c.1586G>A (p.Ter529=) c.1490G>A (p.Ter497=) c.8370+123862C>T (n.8370+123862C>T) | |
2 | g.108896909A= | CA1278354188 | EDAR,RANBP2 | c.1345T= (p.Ter449=) c.1441T= (p.Ter481=) c.1492T= (p.Ter498=) c.1396T= (p.Ter466=) c.772T= (p.Ter258=) c.1585T= (p.Ter529=) c.1489T= (p.Ter497=) c.8370+123863A= (n.8370+123863A=) | |
2 | g.108896909A>C | CA348047404 | EDAR,RANBP2 | c.1345T>G (p.Ter449Gly) c.1441T>G (p.Ter481Gly) c.1492T>G (p.Ter498Gly) c.1396T>G (p.Ter466Gly) c.772T>G (p.Ter258Gly) c.1585T>G (p.Ter529Gly) c.1489T>G (p.Ter497Gly) c.8370+123863A>C (n.8370+123863A>C) | |
2 | g.108896909A>G | CA348047406 | EDAR,RANBP2 | c.1345T>C (p.Ter449Arg) c.1441T>C (p.Ter481Arg) c.1492T>C (p.Ter498Arg) c.1396T>C (p.Ter466Arg) c.772T>C (p.Ter258Arg) c.1585T>C (p.Ter529Arg) c.1489T>C (p.Ter497Arg) c.8370+123863A>G (n.8370+123863A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108896909A>T | CA348047407 | EDAR,RANBP2 | c.1345T>A (p.Ter449Arg) c.1441T>A (p.Ter481Arg) c.1492T>A (p.Ter498Arg) c.1396T>A (p.Ter466Arg) c.772T>A (p.Ter258Arg) c.1585T>A (p.Ter529Arg) c.1489T>A (p.Ter497Arg) c.8370+123863A>T (n.8370+123863A>T) | |
2 | g.108896910G>A | CA428203860 | EDAR,RANBP2 | c.1344C>T (p.Ser448=) c.1440C>T (p.Ser480=) c.1491C>T (p.Ser497=) c.1395C>T (p.Ser465=) c.771C>T (p.Ser257=) c.1584C>T (p.Ser528=) c.1488C>T (p.Ser496=) c.8370+123864G>A (n.8370+123864G>A) | |
2 | g.108896910G>C | CA428203859 | EDAR,RANBP2 | c.1344C>G (p.Ser448=) c.1440C>G (p.Ser480=) c.1491C>G (p.Ser497=) c.1395C>G (p.Ser465=) c.771C>G (p.Ser257=) c.1584C>G (p.Ser528=) c.1488C>G (p.Ser496=) c.8370+123864G>C (n.8370+123864G>C) | |
2 | g.108896910G>T | CA428203858 | EDAR,RANBP2 | c.1344C>A (p.Ser448=) c.1440C>A (p.Ser480=) c.1491C>A (p.Ser497=) c.1395C>A (p.Ser465=) c.771C>A (p.Ser257=) c.1584C>A (p.Ser528=) c.1488C>A (p.Ser496=) c.8370+123864G>T (n.8370+123864G>T) | |
2 | g.108896911G>A | CA348047409 | EDAR,RANBP2 | c.1343C>T (p.Ser448Phe) c.1439C>T (p.Ser480Phe) c.1490C>T (p.Ser497Phe) c.1394C>T (p.Ser465Phe) c.770C>T (p.Ser257Phe) c.1583C>T (p.Ser528Phe) c.1487C>T (p.Ser496Phe) c.8370+123865G>A (n.8370+123865G>A) | |
2 | g.108896911G>C | CA348047410 | EDAR,RANBP2 | c.1343C>G (p.Ser448Cys) c.1439C>G (p.Ser480Cys) c.1490C>G (p.Ser497Cys) c.1394C>G (p.Ser465Cys) c.770C>G (p.Ser257Cys) c.1583C>G (p.Ser528Cys) c.1487C>G (p.Ser496Cys) c.8370+123865G>C (n.8370+123865G>C) | |
2 | g.108896911G>T | CA348047412 | EDAR,RANBP2 | c.1343C>A (p.Ser448Tyr) c.1439C>A (p.Ser480Tyr) c.1490C>A (p.Ser497Tyr) c.1394C>A (p.Ser465Tyr) c.770C>A (p.Ser257Tyr) c.1583C>A (p.Ser528Tyr) c.1487C>A (p.Ser496Tyr) c.8370+123865G>T (n.8370+123865G>T) | |
2 | g.108896912A>C | CA348047415 | EDAR,RANBP2 | c.1342T>G (p.Ser448Ala) c.1438T>G (p.Ser480Ala) c.1489T>G (p.Ser497Ala) c.1393T>G (p.Ser465Ala) c.769T>G (p.Ser257Ala) c.1582T>G (p.Ser528Ala) c.1486T>G (p.Ser496Ala) c.8370+123866A>C (n.8370+123866A>C) | |
2 | g.108896912A>G | CA348047416 | EDAR,RANBP2 | c.1342T>C (p.Ser448Pro) c.1438T>C (p.Ser480Pro) c.1489T>C (p.Ser497Pro) c.1393T>C (p.Ser465Pro) c.769T>C (p.Ser257Pro) c.1582T>C (p.Ser528Pro) c.1486T>C (p.Ser496Pro) c.8370+123866A>G (n.8370+123866A>G) | |
2 | g.108896912A>T | CA348047418 | EDAR,RANBP2 | c.1342T>A (p.Ser448Thr) c.1438T>A (p.Ser480Thr) c.1489T>A (p.Ser497Thr) c.1393T>A (p.Ser465Thr) c.769T>A (p.Ser257Thr) c.1582T>A (p.Ser528Thr) c.1486T>A (p.Ser496Thr) c.8370+123866A>T (n.8370+123866A>T) | |
2 | g.108896913T>A | CA428203861 | EDAR,RANBP2 | c.1341A>T (p.Ala447=) c.1437A>T (p.Ala479=) c.1488A>T (p.Ala496=) c.1392A>T (p.Ala464=) c.768A>T (p.Ala256=) c.1581A>T (p.Ala527=) c.1485A>T (p.Ala495=) c.8370+123867T>A (n.8370+123867T>A) | |
2 | g.108896913T>C | CA428203862 | EDAR,RANBP2 | c.1341A>G (p.Ala447=) c.1437A>G (p.Ala479=) c.1488A>G (p.Ala496=) c.1392A>G (p.Ala464=) c.768A>G (p.Ala256=) c.1581A>G (p.Ala527=) c.1485A>G (p.Ala495=) c.8370+123867T>C (n.8370+123867T>C) | gnomAD v4 |
2 | g.108896913T>G | CA428203863 | EDAR,RANBP2 | c.1341A>C (p.Ala447=) c.1437A>C (p.Ala479=) c.1488A>C (p.Ala496=) c.1392A>C (p.Ala464=) c.768A>C (p.Ala256=) c.1581A>C (p.Ala527=) c.1485A>C (p.Ala495=) c.8370+123867T>G (n.8370+123867T>G) | |
2 | g.108896914G>A | CA348047423 | EDAR,RANBP2 | c.1340C>T (p.Ala447Val) c.1436C>T (p.Ala479Val) c.1487C>T (p.Ala496Val) c.1391C>T (p.Ala464Val) c.767C>T (p.Ala256Val) c.1580C>T (p.Ala527Val) c.1484C>T (p.Ala495Val) c.8370+123868G>A (n.8370+123868G>A) | gnomAD v4 |
2 | g.108896914G>C | CA348047421 | EDAR,RANBP2 | c.1340C>G (p.Ala447Gly) c.1436C>G (p.Ala479Gly) c.1487C>G (p.Ala496Gly) c.1391C>G (p.Ala464Gly) c.767C>G (p.Ala256Gly) c.1580C>G (p.Ala527Gly) c.1484C>G (p.Ala495Gly) c.8370+123868G>C (n.8370+123868G>C) | |
2 | g.108896914G>T | CA348047420 | EDAR,RANBP2 | c.1340C>A (p.Ala447Glu) c.1436C>A (p.Ala479Glu) c.1487C>A (p.Ala496Glu) c.1391C>A (p.Ala464Glu) c.767C>A (p.Ala256Glu) c.1580C>A (p.Ala527Glu) c.1484C>A (p.Ala495Glu) c.8370+123868G>T (n.8370+123868G>T) | |
2 | g.108896915C>A | CA348047426 | EDAR,RANBP2 | c.1339G>T (p.Ala447Ser) c.1435G>T (p.Ala479Ser) c.1486G>T (p.Ala496Ser) c.1390G>T (p.Ala464Ser) c.766G>T (p.Ala256Ser) c.1579G>T (p.Ala527Ser) c.1483G>T (p.Ala495Ser) c.8370+123869C>A (n.8370+123869C>A) | |
2 | g.108896915C>G | CA348047428 | EDAR,RANBP2 | c.1339G>C (p.Ala447Pro) c.1435G>C (p.Ala479Pro) c.1486G>C (p.Ala496Pro) c.1390G>C (p.Ala464Pro) c.766G>C (p.Ala256Pro) c.1579G>C (p.Ala527Pro) c.1483G>C (p.Ala495Pro) c.8370+123869C>G (n.8370+123869C>G) |