| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108896888C= | CA1278354175 | EDAR,RANBP2 | c.*19G= (n.*19G=) c.8370+123842C= (n.8370+123842C=) | |
| 2 | g.108896888C>G | CA1278354176 | EDAR,RANBP2 | c.*19G>C (n.*19G>C) c.8370+123842C>G (n.8370+123842C>G) | dbSNP |
| 2 | g.108896888C>T | CA53464573 | EDAR,RANBP2 | c.*19G>A (n.*19G>A) c.8370+123842C>T (n.8370+123842C>T) | dbSNP gnomAD v4 |
| 2 | g.108896890G>A | CA2519613081 | EDAR,RANBP2 | c.*17C>T (n.*17C>T) c.8370+123844G>A (n.8370+123844G>A) | |
| 2 | g.108896890G>T | CA2660593264 | EDAR,RANBP2 | c.*17C>A (n.*17C>A) c.8370+123844G>T (n.8370+123844G>T) | gnomAD v4 |
| 2 | g.108896891C>A | CA2660593268 | EDAR,RANBP2 | c.*16G>T (n.*16G>T) c.8370+123845C>A (n.8370+123845C>A) | gnomAD v4 |
| 2 | g.108896891C= | CA1278354177 | EDAR,RANBP2 | c.*16G= (n.*16G=) c.8370+123845C= (n.8370+123845C=) | |
| 2 | g.108896891C>G | CA1824776 | EDAR,RANBP2 | c.*16G>C (n.*16G>C) c.8370+123845C>G (n.8370+123845C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108896892C>A | CA2660593270 | EDAR,RANBP2 | c.*15G>T (n.*15G>T) c.8370+123846C>A (n.8370+123846C>A) | gnomAD v4 |
| 2 | g.108896893C>T | CA2660593306 | EDAR,RANBP2 | c.*14G>A (n.*14G>A) c.8370+123847C>T (n.8370+123847C>T) | gnomAD v4 |
| 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) | |
| 2 | g.108896915C>T | CA348047429 | EDAR,RANBP2 | c.1339G>A (p.Ala447Thr) c.1435G>A (p.Ala479Thr) c.1486G>A (p.Ala496Thr) c.1390G>A (p.Ala464Thr) c.766G>A (p.Ala256Thr) c.1579G>A (p.Ala527Thr) c.1483G>A (p.Ala495Thr) c.8370+123869C>T (n.8370+123869C>T) | gnomAD v4 |
| 2 | g.108896916A= | CA1278354189 | EDAR,RANBP2 | c.1338T= (p.Ala446=) c.1434T= (p.Ala478=) c.1485T= (p.Ala495=) c.1389T= (p.Ala463=) c.765T= (p.Ala255=) c.1578T= (p.Ala526=) c.1482T= (p.Ala494=) c.8370+123870A= (n.8370+123870A=) | |
| 2 | g.108896916A>C | CA428203864 | EDAR,RANBP2 | c.1338T>G (p.Ala446=) c.1434T>G (p.Ala478=) c.1485T>G (p.Ala495=) c.1389T>G (p.Ala463=) c.765T>G (p.Ala255=) c.1578T>G (p.Ala526=) c.1482T>G (p.Ala494=) c.8370+123870A>C (n.8370+123870A>C) | |
| 2 | g.108896916A>G | CA1824780 | EDAR,RANBP2 | c.1338T>C (p.Ala446=) c.1434T>C (p.Ala478=) c.1485T>C (p.Ala495=) c.1389T>C (p.Ala463=) c.765T>C (p.Ala255=) c.1578T>C (p.Ala526=) c.1482T>C (p.Ala494=) c.8370+123870A>G (n.8370+123870A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108896916A>T | CA428203865 | EDAR,RANBP2 | c.1338T>A (p.Ala446=) c.1434T>A (p.Ala478=) c.1485T>A (p.Ala495=) c.1389T>A (p.Ala463=) c.765T>A (p.Ala255=) c.1578T>A (p.Ala526=) c.1482T>A (p.Ala494=) c.8370+123870A>T (n.8370+123870A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.108896917G>A | CA348047430 | EDAR,RANBP2 | c.1337C>T (p.Ala446Val) c.1433C>T (p.Ala478Val) c.1484C>T (p.Ala495Val) c.1388C>T (p.Ala463Val) c.764C>T (p.Ala255Val) c.1577C>T (p.Ala526Val) c.1481C>T (p.Ala494Val) c.8370+123871G>A (n.8370+123871G>A) | |
| 2 | g.108896917G>C | CA348047431 | EDAR,RANBP2 | c.1337C>G (p.Ala446Gly) c.1433C>G (p.Ala478Gly) c.1484C>G (p.Ala495Gly) c.1388C>G (p.Ala463Gly) c.764C>G (p.Ala255Gly) c.1577C>G (p.Ala526Gly) c.1481C>G (p.Ala494Gly) c.8370+123871G>C (n.8370+123871G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.108896917G= | CA1278354190 | EDAR,RANBP2 | c.1337C= (p.Ala446=) c.1433C= (p.Ala478=) c.1484C= (p.Ala495=) c.1388C= (p.Ala463=) c.764C= (p.Ala255=) c.1577C= (p.Ala526=) c.1481C= (p.Ala494=) c.8370+123871G= (n.8370+123871G=) | |
| 2 | g.108896917G>T | CA348047432 | EDAR,RANBP2 | c.1337C>A (p.Ala446Asp) c.1433C>A (p.Ala478Asp) c.1484C>A (p.Ala495Asp) c.1388C>A (p.Ala463Asp) c.764C>A (p.Ala255Asp) c.1577C>A (p.Ala526Asp) c.1481C>A (p.Ala494Asp) c.8370+123871G>T (n.8370+123871G>T) | |
| 2 | g.108896918C>A | CA348047433 | EDAR,RANBP2 | c.1336G>T (p.Ala446Ser) c.1432G>T (p.Ala478Ser) c.1483G>T (p.Ala495Ser) c.1387G>T (p.Ala463Ser) c.763G>T (p.Ala255Ser) c.1576G>T (p.Ala526Ser) c.1480G>T (p.Ala494Ser) c.8370+123872C>A (n.8370+123872C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.108896918C= | CA1278354192 | EDAR,RANBP2 | c.1336G= (p.Ala446=) c.1432G= (p.Ala478=) c.1483G= (p.Ala495=) c.1387G= (p.Ala463=) c.763G= (p.Ala255=) c.1576G= (p.Ala526=) c.1480G= (p.Ala494=) c.8370+123872C= (n.8370+123872C=) | |
| 2 | g.108896918C>G | CA348047434 | EDAR,RANBP2 | c.1336G>C (p.Ala446Pro) c.1432G>C (p.Ala478Pro) c.1483G>C (p.Ala495Pro) c.1387G>C (p.Ala463Pro) c.763G>C (p.Ala255Pro) c.1576G>C (p.Ala526Pro) c.1480G>C (p.Ala494Pro) c.8370+123872C>G (n.8370+123872C>G) | |
| 2 | g.108896918C>T | CA348047435 | EDAR,RANBP2 | c.1336G>A (p.Ala446Thr) c.1432G>A (p.Ala478Thr) c.1483G>A (p.Ala495Thr) c.1387G>A (p.Ala463Thr) c.763G>A (p.Ala255Thr) c.1576G>A (p.Ala526Thr) c.1480G>A (p.Ala494Thr) c.8370+123872C>T (n.8370+123872C>T) | |
| 2 | g.108896918_108896919delinsCA | CA1278354191 | EDAR,RANBP2 | c.1335_1336delinsTG (p.His445=) c.1431_1432delinsTG (p.His477=) c.1482_1483delinsTG (p.His494=) c.1386_1387delinsTG (p.His462=) c.762_763delinsTG (p.His254=) c.1575_1576delinsTG (p.His525=) c.1479_1480delinsTG (p.His493=) c.8370+123872_8370+123873delinsCA (n.8370+123872_8370+123873delinsCA) | |
| 2 | g.108896919del | CA53464610 | EDAR,RANBP2 | c.1335del (p.His445GlnfsTer?) c.1431del (p.His477GlnfsTer?) c.1482del (p.His494GlnfsTer?) c.1386del (p.His462GlnfsTer?) c.762del (p.His254GlnfsTer?) c.1575del (p.His525GlnfsTer?) c.1479del (p.His493GlnfsTer?) c.8370+123873del (n.8370+123873del) | dbSNP gnomAD v4 |
| 2 | g.108896919A= | CA1278354193 | EDAR,RANBP2 | c.1335T= (p.His445=) c.1431T= (p.His477=) c.1482T= (p.His494=) c.1386T= (p.His462=) c.762T= (p.His254=) c.1575T= (p.His525=) c.1479T= (p.His493=) c.8370+123873A= (n.8370+123873A=) | |
| 2 | g.108896919A>C | CA348047436 | EDAR,RANBP2 | c.1335T>G (p.His445Gln) c.1431T>G (p.His477Gln) c.1482T>G (p.His494Gln) c.1386T>G (p.His462Gln) c.762T>G (p.His254Gln) c.1575T>G (p.His525Gln) c.1479T>G (p.His493Gln) c.8370+123873A>C (n.8370+123873A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.108896919A>G | CA428203866 | EDAR,RANBP2 | c.1335T>C (p.His445=) c.1431T>C (p.His477=) c.1482T>C (p.His494=) c.1386T>C (p.His462=) c.762T>C (p.His254=) c.1575T>C (p.His525=) c.1479T>C (p.His493=) c.8370+123873A>G (n.8370+123873A>G) | |
| 2 | g.108896919A>T | CA348047437 | EDAR,RANBP2 | c.1335T>A (p.His445Gln) c.1431T>A (p.His477Gln) c.1482T>A (p.His494Gln) c.1386T>A (p.His462Gln) c.762T>A (p.His254Gln) c.1575T>A (p.His525Gln) c.1479T>A (p.His493Gln) c.8370+123873A>T (n.8370+123873A>T) | |
| 2 | g.108896920T>A | CA348047442 | EDAR,RANBP2 | c.1334A>T (p.His445Leu) c.1430A>T (p.His477Leu) c.1481A>T (p.His494Leu) c.1385A>T (p.His462Leu) c.761A>T (p.His254Leu) c.1574A>T (p.His525Leu) c.1478A>T (p.His493Leu) c.8370+123874T>A (n.8370+123874T>A) | gnomAD v4 |
| 2 | g.108896920T>C | CA348047444 | EDAR,RANBP2 | c.1334A>G (p.His445Arg) c.1430A>G (p.His477Arg) c.1481A>G (p.His494Arg) c.1385A>G (p.His462Arg) c.761A>G (p.His254Arg) c.1574A>G (p.His525Arg) c.1478A>G (p.His493Arg) c.8370+123874T>C (n.8370+123874T>C) | |
| 2 | g.108896920T>G | CA348047440 | EDAR,RANBP2 | c.1334A>C (p.His445Pro) c.1430A>C (p.His477Pro) c.1481A>C (p.His494Pro) c.1385A>C (p.His462Pro) c.761A>C (p.His254Pro) c.1574A>C (p.His525Pro) c.1478A>C (p.His493Pro) c.8370+123874T>G (n.8370+123874T>G) | |
| 2 | g.108896921G>A | CA1824781 | EDAR,RANBP2 | c.1333C>T (p.His445Tyr) c.1429C>T (p.His477Tyr) c.1480C>T (p.His494Tyr) c.1384C>T (p.His462Tyr) c.760C>T (p.His254Tyr) c.1573C>T (p.His525Tyr) c.1477C>T (p.His493Tyr) c.8370+123875G>A (n.8370+123875G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108896921G>C | CA348047447 | EDAR,RANBP2 | c.1333C>G (p.His445Asp) c.1429C>G (p.His477Asp) c.1480C>G (p.His494Asp) c.1384C>G (p.His462Asp) c.760C>G (p.His254Asp) c.1573C>G (p.His525Asp) c.1477C>G (p.His493Asp) c.8370+123875G>C (n.8370+123875G>C) | |
| 2 | g.108896921G= | CA1278354194 | EDAR,RANBP2 | c.1333C= (p.His445=) c.1429C= (p.His477=) c.1480C= (p.His494=) c.1384C= (p.His462=) c.760C= (p.His254=) c.1573C= (p.His525=) c.1477C= (p.His493=) c.8370+123875G= (n.8370+123875G=) | |
| 2 | g.108896921G>T | CA348047449 | EDAR,RANBP2 | c.1333C>A (p.His445Asn) c.1429C>A (p.His477Asn) c.1480C>A (p.His494Asn) c.1384C>A (p.His462Asn) c.760C>A (p.His254Asn) c.1573C>A (p.His525Asn) c.1477C>A (p.His493Asn) c.8370+123875G>T (n.8370+123875G>T) | |
| 2 | g.108896922T>A | CA428203867 | EDAR,RANBP2 | c.1332A>T (p.Pro444=) c.1428A>T (p.Pro476=) c.1479A>T (p.Pro493=) c.1383A>T (p.Pro461=) c.759A>T (p.Pro253=) c.1572A>T (p.Pro524=) c.1476A>T (p.Pro492=) c.8370+123876T>A (n.8370+123876T>A) | |
| 2 | g.108896922T>C | CA428203868 | EDAR,RANBP2 | c.1332A>G (p.Pro444=) c.1428A>G (p.Pro476=) c.1479A>G (p.Pro493=) c.1383A>G (p.Pro461=) c.759A>G (p.Pro253=) c.1572A>G (p.Pro524=) c.1476A>G (p.Pro492=) c.8370+123876T>C (n.8370+123876T>C) | |
| 2 | g.108896922T>G | CA428203869 | EDAR,RANBP2 | c.1332A>C (p.Pro444=) c.1428A>C (p.Pro476=) c.1479A>C (p.Pro493=) c.1383A>C (p.Pro461=) c.759A>C (p.Pro253=) c.1572A>C (p.Pro524=) c.1476A>C (p.Pro492=) c.8370+123876T>G (n.8370+123876T>G) | |
| 2 | g.108896923G>A | CA1824782 | EDAR,RANBP2 | c.1331C>T (p.Pro444Leu) c.1427C>T (p.Pro476Leu) c.1478C>T (p.Pro493Leu) c.1382C>T (p.Pro461Leu) c.758C>T (p.Pro253Leu) c.1571C>T (p.Pro524Leu) c.1475C>T (p.Pro492Leu) c.8370+123877G>A (n.8370+123877G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108896923G>C | CA348047451 | EDAR,RANBP2 | c.1331C>G (p.Pro444Arg) c.1427C>G (p.Pro476Arg) c.1478C>G (p.Pro493Arg) c.1382C>G (p.Pro461Arg) c.758C>G (p.Pro253Arg) c.1571C>G (p.Pro524Arg) c.1475C>G (p.Pro492Arg) c.8370+123877G>C (n.8370+123877G>C) | |
| 2 | g.108896923G= | CA1278354195 | EDAR,RANBP2 | c.1331C= (p.Pro444=) c.1427C= (p.Pro476=) c.1478C= (p.Pro493=) c.1382C= (p.Pro461=) c.758C= (p.Pro253=) c.1571C= (p.Pro524=) c.1475C= (p.Pro492=) c.8370+123877G= (n.8370+123877G=) | |
| 2 | g.108896923G>T | CA348047453 | EDAR,RANBP2 | c.1331C>A (p.Pro444Gln) c.1427C>A (p.Pro476Gln) c.1478C>A (p.Pro493Gln) c.1382C>A (p.Pro461Gln) c.758C>A (p.Pro253Gln) c.1571C>A (p.Pro524Gln) c.1475C>A (p.Pro492Gln) c.8370+123877G>T (n.8370+123877G>T) | |
| 2 | g.108896924G>A | CA348047456 | EDAR,RANBP2 | c.1330C>T (p.Pro444Ser) c.1426C>T (p.Pro476Ser) c.1477C>T (p.Pro493Ser) c.1381C>T (p.Pro461Ser) c.757C>T (p.Pro253Ser) c.1570C>T (p.Pro524Ser) c.1474C>T (p.Pro492Ser) c.8370+123878G>A (n.8370+123878G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.108896924G>C | CA348047458 | EDAR,RANBP2 | c.1330C>G (p.Pro444Ala) c.1426C>G (p.Pro476Ala) c.1477C>G (p.Pro493Ala) c.1381C>G (p.Pro461Ala) c.757C>G (p.Pro253Ala) c.1570C>G (p.Pro524Ala) c.1474C>G (p.Pro492Ala) c.8370+123878G>C (n.8370+123878G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.108896924G= | CA1278354196 | EDAR,RANBP2 | c.1330C= (p.Pro444=) c.1426C= (p.Pro476=) c.1477C= (p.Pro493=) c.1381C= (p.Pro461=) c.757C= (p.Pro253=) c.1570C= (p.Pro524=) c.1474C= (p.Pro492=) c.8370+123878G= (n.8370+123878G=) | |
| 2 | g.108896924G>T | CA348047460 | EDAR,RANBP2 | c.1330C>A (p.Pro444Thr) c.1426C>A (p.Pro476Thr) c.1477C>A (p.Pro493Thr) c.1381C>A (p.Pro461Thr) c.757C>A (p.Pro253Thr) c.1570C>A (p.Pro524Thr) c.1474C>A (p.Pro492Thr) c.8370+123878G>T (n.8370+123878G>T) | dbSNP gnomAD v4 |
| 2 | g.108896925C>A | CA348047461 | EDAR,RANBP2 | c.1329G>T (p.Gln443His) c.1425G>T (p.Gln475His) c.1476G>T (p.Gln492His) c.1380G>T (p.Gln460His) c.756G>T (p.Gln252His) c.1569G>T (p.Gln523His) c.1473G>T (p.Gln491His) c.8370+123879C>A (n.8370+123879C>A) | |
| 2 | g.108896925C>G | CA348047462 | EDAR,RANBP2 | c.1329G>C (p.Gln443His) c.1425G>C (p.Gln475His) c.1476G>C (p.Gln492His) c.1380G>C (p.Gln460His) c.756G>C (p.Gln252His) c.1569G>C (p.Gln523His) c.1473G>C (p.Gln491His) c.8370+123879C>G (n.8370+123879C>G) | |
| 2 | g.108896925C>T | CA428203870 | EDAR,RANBP2 | c.1329G>A (p.Gln443=) c.1425G>A (p.Gln475=) c.1476G>A (p.Gln492=) c.1380G>A (p.Gln460=) c.756G>A (p.Gln252=) c.1569G>A (p.Gln523=) c.1473G>A (p.Gln491=) c.8370+123879C>T (n.8370+123879C>T) | |
| 2 | g.108896926T>A | CA348047466 | EDAR,RANBP2 | c.1328A>T (p.Gln443Leu) c.1424A>T (p.Gln475Leu) c.1475A>T (p.Gln492Leu) c.1379A>T (p.Gln460Leu) c.755A>T (p.Gln252Leu) c.1568A>T (p.Gln523Leu) c.1472A>T (p.Gln491Leu) c.8370+123880T>A (n.8370+123880T>A) | |
| 2 | g.108896926T>C | CA348047465 | EDAR,RANBP2 | c.1328A>G (p.Gln443Arg) c.1424A>G (p.Gln475Arg) c.1475A>G (p.Gln492Arg) c.1379A>G (p.Gln460Arg) c.755A>G (p.Gln252Arg) c.1568A>G (p.Gln523Arg) c.1472A>G (p.Gln491Arg) c.8370+123880T>C (n.8370+123880T>C) | |
| 2 | g.108896926T>G | CA348047463 | EDAR,RANBP2 | c.1328A>C (p.Gln443Pro) c.1424A>C (p.Gln475Pro) c.1475A>C (p.Gln492Pro) c.1379A>C (p.Gln460Pro) c.755A>C (p.Gln252Pro) c.1568A>C (p.Gln523Pro) c.1472A>C (p.Gln491Pro) c.8370+123880T>G (n.8370+123880T>G) | |
| 2 | g.108896927G>A | CA348047468 | EDAR,RANBP2 | c.1327C>T (p.Gln443Ter) c.1423C>T (p.Gln475Ter) c.1474C>T (p.Gln492Ter) c.1378C>T (p.Gln460Ter) c.754C>T (p.Gln252Ter) c.1567C>T (p.Gln523Ter) c.1471C>T (p.Gln491Ter) c.8370+123881G>A (n.8370+123881G>A) | COSMIC COSMIC |
| 2 | g.108896927G>C | CA348047470 | EDAR,RANBP2 | c.1327C>G (p.Gln443Glu) c.1423C>G (p.Gln475Glu) c.1474C>G (p.Gln492Glu) c.1378C>G (p.Gln460Glu) c.754C>G (p.Gln252Glu) c.1567C>G (p.Gln523Glu) c.1471C>G (p.Gln491Glu) c.8370+123881G>C (n.8370+123881G>C) | |
| 2 | g.108896927G>T | CA348047471 | EDAR,RANBP2 | c.1327C>A (p.Gln443Lys) c.1423C>A (p.Gln475Lys) c.1474C>A (p.Gln492Lys) c.1378C>A (p.Gln460Lys) c.754C>A (p.Gln252Lys) c.1567C>A (p.Gln523Lys) c.1471C>A (p.Gln491Lys) c.8370+123881G>T (n.8370+123881G>T) | |
| 2 | g.108896928G>A | CA53464624 | EDAR,RANBP2 | c.1326C>T (p.Ser442=) c.1422C>T (p.Ser474=) c.1473C>T (p.Ser491=) c.1377C>T (p.Ser459=) c.753C>T (p.Ser251=) c.1566C>T (p.Ser522=) c.1470C>T (p.Ser490=) c.8370+123882G>A (n.8370+123882G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108896928G>C | CA428203871 | EDAR,RANBP2 | c.1326C>G (p.Ser442=) c.1422C>G (p.Ser474=) c.1473C>G (p.Ser491=) c.1377C>G (p.Ser459=) c.753C>G (p.Ser251=) c.1566C>G (p.Ser522=) c.1470C>G (p.Ser490=) c.8370+123882G>C (n.8370+123882G>C) | |
| 2 | g.108896928G= | CA1278354197 | EDAR,RANBP2 | c.1326C= (p.Ser442=) c.1422C= (p.Ser474=) c.1473C= (p.Ser491=) c.1377C= (p.Ser459=) c.753C= (p.Ser251=) c.1566C= (p.Ser522=) c.1470C= (p.Ser490=) c.8370+123882G= (n.8370+123882G=) | |
| 2 | g.108896928G>T | CA428203872 | EDAR,RANBP2 | c.1326C>A (p.Ser442=) c.1422C>A (p.Ser474=) c.1473C>A (p.Ser491=) c.1377C>A (p.Ser459=) c.753C>A (p.Ser251=) c.1566C>A (p.Ser522=) c.1470C>A (p.Ser490=) c.8370+123882G>T (n.8370+123882G>T) | |
| 2 | g.108896929G>A | CA348047474 | EDAR,RANBP2 | c.1325C>T (p.Ser442Phe) c.1421C>T (p.Ser474Phe) c.1472C>T (p.Ser491Phe) c.1376C>T (p.Ser459Phe) c.752C>T (p.Ser251Phe) c.1565C>T (p.Ser522Phe) c.1469C>T (p.Ser490Phe) c.8370+123883G>A (n.8370+123883G>A) | |
| 2 | g.108896929G>C | CA348047475 | EDAR,RANBP2 | c.1325C>G (p.Ser442Cys) c.1421C>G (p.Ser474Cys) c.1472C>G (p.Ser491Cys) c.1376C>G (p.Ser459Cys) c.752C>G (p.Ser251Cys) c.1565C>G (p.Ser522Cys) c.1469C>G (p.Ser490Cys) c.8370+123883G>C (n.8370+123883G>C) | |
| 2 | g.108896929G>T | CA348047478 | EDAR,RANBP2 | c.1325C>A (p.Ser442Tyr) c.1421C>A (p.Ser474Tyr) c.1472C>A (p.Ser491Tyr) c.1376C>A (p.Ser459Tyr) c.752C>A (p.Ser251Tyr) c.1565C>A (p.Ser522Tyr) c.1469C>A (p.Ser490Tyr) c.8370+123883G>T (n.8370+123883G>T) | |
| 2 | g.108896930A= | CA1278354198 | EDAR,RANBP2 | c.1324T= (p.Ser442=) c.1420T= (p.Ser474=) c.1471T= (p.Ser491=) c.1375T= (p.Ser459=) c.751T= (p.Ser251=) c.1564T= (p.Ser522=) c.1468T= (p.Ser490=) c.8370+123884A= (n.8370+123884A=) | |
| 2 | g.108896930A>C | CA348047480 | EDAR,RANBP2 | c.1324T>G (p.Ser442Ala) c.1420T>G (p.Ser474Ala) c.1471T>G (p.Ser491Ala) c.1375T>G (p.Ser459Ala) c.751T>G (p.Ser251Ala) c.1564T>G (p.Ser522Ala) c.1468T>G (p.Ser490Ala) c.8370+123884A>C (n.8370+123884A>C) | |
| 2 | g.108896930A>G | CA1824783 | EDAR,RANBP2 | c.1324T>C (p.Ser442Pro) c.1420T>C (p.Ser474Pro) c.1471T>C (p.Ser491Pro) c.1375T>C (p.Ser459Pro) c.751T>C (p.Ser251Pro) c.1564T>C (p.Ser522Pro) c.1468T>C (p.Ser490Pro) c.8370+123884A>G (n.8370+123884A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.108896930A>T | CA348047482 | EDAR,RANBP2 | c.1324T>A (p.Ser442Thr) c.1420T>A (p.Ser474Thr) c.1471T>A (p.Ser491Thr) c.1375T>A (p.Ser459Thr) c.751T>A (p.Ser251Thr) c.1564T>A (p.Ser522Thr) c.1468T>A (p.Ser490Thr) c.8370+123884A>T (n.8370+123884A>T) | |
| 2 | g.108896931G>A | CA428203875 | EDAR,RANBP2 | c.1323C>T (p.Ala441=) c.1419C>T (p.Ala473=) c.1470C>T (p.Ala490=) c.1374C>T (p.Ala458=) c.750C>T (p.Ala250=) c.1563C>T (p.Ala521=) c.1467C>T (p.Ala489=) c.8370+123885G>A (n.8370+123885G>A) | COSMIC COSMIC |
| 2 | g.108896931G>C | CA428203873 | EDAR,RANBP2 | c.1323C>G (p.Ala441=) c.1419C>G (p.Ala473=) c.1470C>G (p.Ala490=) c.1374C>G (p.Ala458=) c.750C>G (p.Ala250=) c.1563C>G (p.Ala521=) c.1467C>G (p.Ala489=) c.8370+123885G>C (n.8370+123885G>C) | |
| 2 | g.108896931G>T | CA428203874 | EDAR,RANBP2 | c.1323C>A (p.Ala441=) c.1419C>A (p.Ala473=) c.1470C>A (p.Ala490=) c.1374C>A (p.Ala458=) c.750C>A (p.Ala250=) c.1563C>A (p.Ala521=) c.1467C>A (p.Ala489=) c.8370+123885G>T (n.8370+123885G>T) | |
| 2 | g.108896932G>A | CA348047483 | EDAR,RANBP2 | c.1322C>T (p.Ala441Val) c.1418C>T (p.Ala473Val) c.1469C>T (p.Ala490Val) c.1373C>T (p.Ala458Val) c.749C>T (p.Ala250Val) c.1562C>T (p.Ala521Val) c.1466C>T (p.Ala489Val) c.8370+123886G>A (n.8370+123886G>A) | |
| 2 | g.108896932G>C | CA348047484 | EDAR,RANBP2 | c.1322C>G (p.Ala441Gly) c.1418C>G (p.Ala473Gly) c.1469C>G (p.Ala490Gly) c.1373C>G (p.Ala458Gly) c.749C>G (p.Ala250Gly) c.1562C>G (p.Ala521Gly) c.1466C>G (p.Ala489Gly) c.8370+123886G>C (n.8370+123886G>C) | |
| 2 | g.108896932G>T | CA348047487 | EDAR,RANBP2 | c.1322C>A (p.Ala441Asp) c.1418C>A (p.Ala473Asp) c.1469C>A (p.Ala490Asp) c.1373C>A (p.Ala458Asp) c.749C>A (p.Ala250Asp) c.1562C>A (p.Ala521Asp) c.1466C>A (p.Ala489Asp) c.8370+123886G>T (n.8370+123886G>T) | |
| 2 | g.108896933C>A | CA348047492 | EDAR,RANBP2 | c.1321G>T (p.Ala441Ser) c.1417G>T (p.Ala473Ser) c.1468G>T (p.Ala490Ser) c.1372G>T (p.Ala458Ser) c.748G>T (p.Ala250Ser) c.1561G>T (p.Ala521Ser) c.1465G>T (p.Ala489Ser) c.8370+123887C>A (n.8370+123887C>A) | |
| 2 | g.108896933C= | CA1278354199 | EDAR,RANBP2 | c.1321G= (p.Ala441=) c.1417G= (p.Ala473=) c.1468G= (p.Ala490=) c.1372G= (p.Ala458=) c.748G= (p.Ala250=) c.1561G= (p.Ala521=) c.1465G= (p.Ala489=) c.8370+123887C= (n.8370+123887C=) | |
| 2 | g.108896933C>G | CA348047490 | EDAR,RANBP2 | c.1321G>C (p.Ala441Pro) c.1417G>C (p.Ala473Pro) c.1468G>C (p.Ala490Pro) c.1372G>C (p.Ala458Pro) c.748G>C (p.Ala250Pro) c.1561G>C (p.Ala521Pro) c.1465G>C (p.Ala489Pro) c.8370+123887C>G (n.8370+123887C>G) | dbSNP |
| 2 | g.108896933C>T | CA348047488 | EDAR,RANBP2 | c.1321G>A (p.Ala441Thr) c.1417G>A (p.Ala473Thr) c.1468G>A (p.Ala490Thr) c.1372G>A (p.Ala458Thr) c.748G>A (p.Ala250Thr) c.1561G>A (p.Ala521Thr) c.1465G>A (p.Ala489Thr) c.8370+123887C>T (n.8370+123887C>T) | |
| 2 | g.108896934A>C | CA428203876 | EDAR,RANBP2 | c.1320T>G (p.Pro440=) c.1416T>G (p.Pro472=) c.1467T>G (p.Pro489=) c.1371T>G (p.Pro457=) c.747T>G (p.Pro249=) c.1560T>G (p.Pro520=) c.1464T>G (p.Pro488=) c.8370+123888A>C (n.8370+123888A>C) | |
| 2 | g.108896934A>G | CA428203877 | EDAR,RANBP2 | c.1320T>C (p.Pro440=) c.1416T>C (p.Pro472=) c.1467T>C (p.Pro489=) c.1371T>C (p.Pro457=) c.747T>C (p.Pro249=) c.1560T>C (p.Pro520=) c.1464T>C (p.Pro488=) c.8370+123888A>G (n.8370+123888A>G) | |
| 2 | g.108896934A>T | CA428203878 | EDAR,RANBP2 | c.1320T>A (p.Pro440=) c.1416T>A (p.Pro472=) c.1467T>A (p.Pro489=) c.1371T>A (p.Pro457=) c.747T>A (p.Pro249=) c.1560T>A (p.Pro520=) c.1464T>A (p.Pro488=) c.8370+123888A>T (n.8370+123888A>T) | |
| 2 | g.108896935G>A | CA348047493 | EDAR,RANBP2 | c.1319C>T (p.Pro440Leu) c.1415C>T (p.Pro472Leu) c.1466C>T (p.Pro489Leu) c.1370C>T (p.Pro457Leu) c.746C>T (p.Pro249Leu) c.1559C>T (p.Pro520Leu) c.1463C>T (p.Pro488Leu) c.8370+123889G>A (n.8370+123889G>A) | |
| 2 | g.108896935G>C | CA348047498 | EDAR,RANBP2 | c.1319C>G (p.Pro440Arg) c.1415C>G (p.Pro472Arg) c.1466C>G (p.Pro489Arg) c.1370C>G (p.Pro457Arg) c.746C>G (p.Pro249Arg) c.1559C>G (p.Pro520Arg) c.1463C>G (p.Pro488Arg) c.8370+123889G>C (n.8370+123889G>C) | |
| 2 | g.108896935G>T | CA348047496 | EDAR,RANBP2 | c.1319C>A (p.Pro440His) c.1415C>A (p.Pro472His) c.1466C>A (p.Pro489His) c.1370C>A (p.Pro457His) c.746C>A (p.Pro249His) c.1559C>A (p.Pro520His) c.1463C>A (p.Pro488His) c.8370+123889G>T (n.8370+123889G>T) | |
| 2 | g.108896936G>A | CA53464628 | EDAR,RANBP2 | c.1318C>T (p.Pro440Ser) c.1414C>T (p.Pro472Ser) c.1465C>T (p.Pro489Ser) c.1369C>T (p.Pro457Ser) c.745C>T (p.Pro249Ser) c.1558C>T (p.Pro520Ser) c.1462C>T (p.Pro488Ser) c.8370+123890G>A (n.8370+123890G>A) | dbSNP gnomAD v4 |
| 2 | g.108896936G>C | CA348047500 | EDAR,RANBP2 | c.1318C>G (p.Pro440Ala) c.1414C>G (p.Pro472Ala) c.1465C>G (p.Pro489Ala) c.1369C>G (p.Pro457Ala) c.745C>G (p.Pro249Ala) c.1558C>G (p.Pro520Ala) c.1462C>G (p.Pro488Ala) c.8370+123890G>C (n.8370+123890G>C) | |
| 2 | g.108896936G= | CA1278354200 | EDAR,RANBP2 | c.1318C= (p.Pro440=) c.1414C= (p.Pro472=) c.1465C= (p.Pro489=) c.1369C= (p.Pro457=) c.745C= (p.Pro249=) c.1558C= (p.Pro520=) c.1462C= (p.Pro488=) c.8370+123890G= (n.8370+123890G=) | |
| 2 | g.108896936G>T | CA348047502 | EDAR,RANBP2 | c.1318C>A (p.Pro440Thr) c.1414C>A (p.Pro472Thr) c.1465C>A (p.Pro489Thr) c.1369C>A (p.Pro457Thr) c.745C>A (p.Pro249Thr) c.1558C>A (p.Pro520Thr) c.1462C>A (p.Pro488Thr) c.8370+123890G>T (n.8370+123890G>T) | |
| 2 | g.108896937T>A | CA428203880 | EDAR,RANBP2 | c.1317A>T (p.Pro439=) c.1413A>T (p.Pro471=) c.1464A>T (p.Pro488=) c.1368A>T (p.Pro456=) c.744A>T (p.Pro248=) c.1557A>T (p.Pro519=) c.1461A>T (p.Pro487=) c.8370+123891T>A (n.8370+123891T>A) | |
| 2 | g.108896937T>C | CA428203879 | EDAR,RANBP2 | c.1317A>G (p.Pro439=) c.1413A>G (p.Pro471=) c.1464A>G (p.Pro488=) c.1368A>G (p.Pro456=) c.744A>G (p.Pro248=) c.1557A>G (p.Pro519=) c.1461A>G (p.Pro487=) c.8370+123891T>C (n.8370+123891T>C) | |
| 2 | g.108896937T>G | CA1824784 | EDAR,RANBP2 | c.1317A>C (p.Pro439=) c.1413A>C (p.Pro471=) c.1464A>C (p.Pro488=) c.1368A>C (p.Pro456=) c.744A>C (p.Pro248=) c.1557A>C (p.Pro519=) c.1461A>C (p.Pro487=) c.8370+123891T>G (n.8370+123891T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.108896937T= | CA1278354201 | EDAR,RANBP2 | c.1317A= (p.Pro439=) c.1413A= (p.Pro471=) c.1464A= (p.Pro488=) c.1368A= (p.Pro456=) c.744A= (p.Pro248=) c.1557A= (p.Pro519=) c.1461A= (p.Pro487=) c.8370+123891T= (n.8370+123891T=) | |
| 2 | g.108896938G>A | CA348047506 | EDAR,RANBP2 | c.1316C>T (p.Pro439Leu) c.1412C>T (p.Pro471Leu) c.1463C>T (p.Pro488Leu) c.1367C>T (p.Pro456Leu) c.743C>T (p.Pro248Leu) c.1556C>T (p.Pro519Leu) c.1460C>T (p.Pro487Leu) c.8370+123892G>A (n.8370+123892G>A) | |
| 2 | g.108896938G>C | CA348047508 | EDAR,RANBP2 | c.1316C>G (p.Pro439Arg) c.1412C>G (p.Pro471Arg) c.1463C>G (p.Pro488Arg) c.1367C>G (p.Pro456Arg) c.743C>G (p.Pro248Arg) c.1556C>G (p.Pro519Arg) c.1460C>G (p.Pro487Arg) c.8370+123892G>C (n.8370+123892G>C) | |
| 2 | g.108896938G>T | CA348047510 | EDAR,RANBP2 | c.1316C>A (p.Pro439Gln) c.1412C>A (p.Pro471Gln) c.1463C>A (p.Pro488Gln) c.1367C>A (p.Pro456Gln) c.743C>A (p.Pro248Gln) c.1556C>A (p.Pro519Gln) c.1460C>A (p.Pro487Gln) c.8370+123892G>T (n.8370+123892G>T) | |
| 2 | g.108896939G>A | CA348047513 | EDAR,RANBP2 | c.1315C>T (p.Pro439Ser) c.1411C>T (p.Pro471Ser) c.1462C>T (p.Pro488Ser) c.1366C>T (p.Pro456Ser) c.742C>T (p.Pro248Ser) c.1555C>T (p.Pro519Ser) c.1459C>T (p.Pro487Ser) c.8370+123893G>A (n.8370+123893G>A) | |
| 2 | g.108896939G>C | CA348047515 | EDAR,RANBP2 | c.1315C>G (p.Pro439Ala) c.1411C>G (p.Pro471Ala) c.1462C>G (p.Pro488Ala) c.1366C>G (p.Pro456Ala) c.742C>G (p.Pro248Ala) c.1555C>G (p.Pro519Ala) c.1459C>G (p.Pro487Ala) c.8370+123893G>C (n.8370+123893G>C) | |
| 2 | g.108896939G>T | CA348047516 | EDAR,RANBP2 | c.1315C>A (p.Pro439Thr) c.1411C>A (p.Pro471Thr) c.1462C>A (p.Pro488Thr) c.1366C>A (p.Pro456Thr) c.742C>A (p.Pro248Thr) c.1555C>A (p.Pro519Thr) c.1459C>A (p.Pro487Thr) c.8370+123893G>T (n.8370+123893G>T) | |
| 2 | g.108896940C>A | CA428203881 | EDAR,RANBP2 | c.1314G>T (p.Val438=) c.1410G>T (p.Val470=) c.1461G>T (p.Val487=) c.1365G>T (p.Val455=) c.741G>T (p.Val247=) c.1554G>T (p.Val518=) c.1458G>T (p.Val486=) c.8370+123894C>A (n.8370+123894C>A) | gnomAD v4 |
| 2 | g.108896940C= | CA1278354202 | EDAR,RANBP2 | c.1314G= (p.Val438=) c.1410G= (p.Val470=) c.1461G= (p.Val487=) c.1365G= (p.Val455=) c.741G= (p.Val247=) c.1554G= (p.Val518=) c.1458G= (p.Val486=) c.8370+123894C= (n.8370+123894C=) | |
| 2 | g.108896940C>G | CA428203882 | EDAR,RANBP2 | c.1314G>C (p.Val438=) c.1410G>C (p.Val470=) c.1461G>C (p.Val487=) c.1365G>C (p.Val455=) c.741G>C (p.Val247=) c.1554G>C (p.Val518=) c.1458G>C (p.Val486=) c.8370+123894C>G (n.8370+123894C>G) | gnomAD v4 |
| 2 | g.108896940C>T | CA53464635 | EDAR,RANBP2 | c.1314G>A (p.Val438=) c.1410G>A (p.Val470=) c.1461G>A (p.Val487=) c.1365G>A (p.Val455=) c.741G>A (p.Val247=) c.1554G>A (p.Val518=) c.1458G>A (p.Val486=) c.8370+123894C>T (n.8370+123894C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108896941A>C | CA348047518 | EDAR,RANBP2 | c.1313T>G (p.Val438Gly) c.1409T>G (p.Val470Gly) c.1460T>G (p.Val487Gly) c.1364T>G (p.Val455Gly) c.740T>G (p.Val247Gly) c.1553T>G (p.Val518Gly) c.1457T>G (p.Val486Gly) c.8370+123895A>C (n.8370+123895A>C) | |
| 2 | g.108896941A>G | CA348047520 | EDAR,RANBP2 | c.1313T>C (p.Val438Ala) c.1409T>C (p.Val470Ala) c.1460T>C (p.Val487Ala) c.1364T>C (p.Val455Ala) c.740T>C (p.Val247Ala) c.1553T>C (p.Val518Ala) c.1457T>C (p.Val486Ala) c.8370+123895A>G (n.8370+123895A>G) | |
| 2 | g.108896941A>T | CA348047522 | EDAR,RANBP2 | c.1313T>A (p.Val438Glu) c.1409T>A (p.Val470Glu) c.1460T>A (p.Val487Glu) c.1364T>A (p.Val455Glu) c.740T>A (p.Val247Glu) c.1553T>A (p.Val518Glu) c.1457T>A (p.Val486Glu) c.8370+123895A>T (n.8370+123895A>T) | |
| 2 | g.108896942C>A | CA348047524 | EDAR,RANBP2 | c.1312G>T (p.Val438Leu) c.1408G>T (p.Val470Leu) c.1459G>T (p.Val487Leu) c.1363G>T (p.Val455Leu) c.739G>T (p.Val247Leu) c.1552G>T (p.Val518Leu) c.1456G>T (p.Val486Leu) c.8370+123896C>A (n.8370+123896C>A) | |
| 2 | g.108896942C>G | CA348047527 | EDAR,RANBP2 | c.1312G>C (p.Val438Leu) c.1408G>C (p.Val470Leu) c.1459G>C (p.Val487Leu) c.1363G>C (p.Val455Leu) c.739G>C (p.Val247Leu) c.1552G>C (p.Val518Leu) c.1456G>C (p.Val486Leu) c.8370+123896C>G (n.8370+123896C>G) | gnomAD v4 |
| 2 | g.108896942C>T | CA348047525 | EDAR,RANBP2 | c.1312G>A (p.Val438Met) c.1408G>A (p.Val470Met) c.1459G>A (p.Val487Met) c.1363G>A (p.Val455Met) c.739G>A (p.Val247Met) c.1552G>A (p.Val518Met) c.1456G>A (p.Val486Met) c.8370+123896C>T (n.8370+123896C>T) | |
| 2 | g.108896943A>C | CA428203883 | EDAR,RANBP2 | c.1311T>G (p.Val437=) c.1407T>G (p.Val469=) c.1458T>G (p.Val486=) c.1362T>G (p.Val454=) c.738T>G (p.Val246=) c.1551T>G (p.Val517=) c.1455T>G (p.Val485=) c.8370+123897A>C (n.8370+123897A>C) | |
| 2 | g.108896943A>G | CA428203884 | EDAR,RANBP2 | c.1311T>C (p.Val437=) c.1407T>C (p.Val469=) c.1458T>C (p.Val486=) c.1362T>C (p.Val454=) c.738T>C (p.Val246=) c.1551T>C (p.Val517=) c.1455T>C (p.Val485=) c.8370+123897A>G (n.8370+123897A>G) | |
| 2 | g.108896943A>T | CA428203885 | EDAR,RANBP2 | c.1311T>A (p.Val437=) c.1407T>A (p.Val469=) c.1458T>A (p.Val486=) c.1362T>A (p.Val454=) c.738T>A (p.Val246=) c.1551T>A (p.Val517=) c.1455T>A (p.Val485=) c.8370+123897A>T (n.8370+123897A>T) | |
| 2 | g.108896944A= | CA1278354203 | EDAR,RANBP2 | c.1310T= (p.Val437=) c.1406T= (p.Val469=) c.1457T= (p.Val486=) c.1361T= (p.Val454=) c.737T= (p.Val246=) c.1550T= (p.Val517=) c.1454T= (p.Val485=) c.8370+123898A= (n.8370+123898A=) | |
| 2 | g.108896944A>C | CA348047529 | EDAR,RANBP2 | c.1310T>G (p.Val437Gly) c.1406T>G (p.Val469Gly) c.1457T>G (p.Val486Gly) c.1361T>G (p.Val454Gly) c.737T>G (p.Val246Gly) c.1550T>G (p.Val517Gly) c.1454T>G (p.Val485Gly) c.8370+123898A>C (n.8370+123898A>C) | dbSNP |
| 2 | g.108896944A>G | CA1824785 | EDAR,RANBP2 | c.1310T>C (p.Val437Ala) c.1406T>C (p.Val469Ala) c.1457T>C (p.Val486Ala) c.1361T>C (p.Val454Ala) c.737T>C (p.Val246Ala) c.1550T>C (p.Val517Ala) c.1454T>C (p.Val485Ala) c.8370+123898A>G (n.8370+123898A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.108896944A>T | CA348047532 | EDAR,RANBP2 | c.1310T>A (p.Val437Asp) c.1406T>A (p.Val469Asp) c.1457T>A (p.Val486Asp) c.1361T>A (p.Val454Asp) c.737T>A (p.Val246Asp) c.1550T>A (p.Val517Asp) c.1454T>A (p.Val485Asp) c.8370+123898A>T (n.8370+123898A>T) | |
| 2 | g.108896944_108896945delinsAC | CA1278354204 | EDAR,RANBP2 | c.1309_1310delinsGT (p.Val437=) c.1405_1406delinsGT (p.Val469=) c.1456_1457delinsGT (p.Val486=) c.1360_1361delinsGT (p.Val454=) c.736_737delinsGT (p.Val246=) c.1549_1550delinsGT (p.Val517=) c.1453_1454delinsGT (p.Val485=) c.8370+123898_8370+123899delinsAC (n.8370+123898_8370+123899delinsAC) | |
| 2 | g.108896945C>A | CA1824786 | EDAR,RANBP2 | c.1309G>T (p.Val437Phe) c.1405G>T (p.Val469Phe) c.1456G>T (p.Val486Phe) c.1360G>T (p.Val454Phe) c.736G>T (p.Val246Phe) c.1549G>T (p.Val517Phe) c.1453G>T (p.Val485Phe) c.8370+123899C>A (n.8370+123899C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108896945C= | CA1278354205 | EDAR,RANBP2 | c.1309G= (p.Val437=) c.1405G= (p.Val469=) c.1456G= (p.Val486=) c.1360G= (p.Val454=) c.736G= (p.Val246=) c.1549G= (p.Val517=) c.1453G= (p.Val485=) c.8370+123899C= (n.8370+123899C=) | |
| 2 | g.108896945C>G | CA348047535 | EDAR,RANBP2 | c.1309G>C (p.Val437Leu) c.1405G>C (p.Val469Leu) c.1456G>C (p.Val486Leu) c.1360G>C (p.Val454Leu) c.736G>C (p.Val246Leu) c.1549G>C (p.Val517Leu) c.1453G>C (p.Val485Leu) c.8370+123899C>G (n.8370+123899C>G) | |
| 2 | g.108896945C>T | CA348047536 | EDAR,RANBP2 | c.1309G>A (p.Val437Ile) c.1405G>A (p.Val469Ile) c.1456G>A (p.Val486Ile) c.1360G>A (p.Val454Ile) c.736G>A (p.Val246Ile) c.1549G>A (p.Val517Ile) c.1453G>A (p.Val485Ile) c.8370+123899C>T (n.8370+123899C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108896949del | CA754955605 | EDAR,RANBP2 | c.1309del (p.Val437LeufsTer?) c.1405del (p.Val469LeufsTer?) c.1456del (p.Val486LeufsTer?) c.1360del (p.Val454LeufsTer?) c.736del (p.Val246LeufsTer?) c.1549del (p.Val517LeufsTer?) c.1453del (p.Val485LeufsTer?) c.8370+123903del (n.8370+123903del) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.108896946C>A | CA1824787 | EDAR,RANBP2 | c.1308G>T (p.Gly436=) c.1404G>T (p.Gly468=) c.1455G>T (p.Gly485=) c.1359G>T (p.Gly453=) c.735G>T (p.Gly245=) c.1548G>T (p.Gly516=) c.1452G>T (p.Gly484=) c.8370+123900C>A (n.8370+123900C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.108896946C= | CA1278354206 | EDAR,RANBP2 | c.1308G= (p.Gly436=) c.1404G= (p.Gly468=) c.1455G= (p.Gly485=) c.1359G= (p.Gly453=) c.735G= (p.Gly245=) c.1548G= (p.Gly516=) c.1452G= (p.Gly484=) c.8370+123900C= (n.8370+123900C=) | |
| 2 | g.108896946C>G | CA428203886 | EDAR,RANBP2 | c.1308G>C (p.Gly436=) c.1404G>C (p.Gly468=) c.1455G>C (p.Gly485=) c.1359G>C (p.Gly453=) c.735G>C (p.Gly245=) c.1548G>C (p.Gly516=) c.1452G>C (p.Gly484=) c.8370+123900C>G (n.8370+123900C>G) | |
| 2 | g.108896946C>T | CA428203887 | EDAR,RANBP2 | c.1308G>A (p.Gly436=) c.1404G>A (p.Gly468=) c.1455G>A (p.Gly485=) c.1359G>A (p.Gly453=) c.735G>A (p.Gly245=) c.1548G>A (p.Gly516=) c.1452G>A (p.Gly484=) c.8370+123900C>T (n.8370+123900C>T) | |
| 2 | g.108896947C>A | CA348047539 | EDAR,RANBP2 | c.1307G>T (p.Gly436Val) c.1403G>T (p.Gly468Val) c.1454G>T (p.Gly485Val) c.1358G>T (p.Gly453Val) c.734G>T (p.Gly245Val) c.1547G>T (p.Gly516Val) c.1451G>T (p.Gly484Val) c.8370+123901C>A (n.8370+123901C>A) | |
| 2 | g.108896947C= | CA1278354207 | EDAR,RANBP2 | c.1307G= (p.Gly436=) c.1403G= (p.Gly468=) c.1454G= (p.Gly485=) c.1358G= (p.Gly453=) c.734G= (p.Gly245=) c.1547G= (p.Gly516=) c.1451G= (p.Gly484=) c.8370+123901C= (n.8370+123901C=) | |
| 2 | g.108896947C>G | CA348047541 | EDAR,RANBP2 | c.1307G>C (p.Gly436Ala) c.1403G>C (p.Gly468Ala) c.1454G>C (p.Gly485Ala) c.1358G>C (p.Gly453Ala) c.734G>C (p.Gly245Ala) c.1547G>C (p.Gly516Ala) c.1451G>C (p.Gly484Ala) c.8370+123901C>G (n.8370+123901C>G) | gnomAD v4 |
| 2 | g.108896947C>T | CA348047543 | EDAR,RANBP2 | c.1307G>A (p.Gly436Glu) c.1403G>A (p.Gly468Glu) c.1454G>A (p.Gly485Glu) c.1358G>A (p.Gly453Glu) c.734G>A (p.Gly245Glu) c.1547G>A (p.Gly516Glu) c.1451G>A (p.Gly484Glu) c.8370+123901C>T (n.8370+123901C>T) | dbSNP gnomAD v4 |
| 2 | g.108896948C>A | CA348047548 | EDAR,RANBP2 | c.1306G>T (p.Gly436Trp) c.1402G>T (p.Gly468Trp) c.1453G>T (p.Gly485Trp) c.1357G>T (p.Gly453Trp) c.733G>T (p.Gly245Trp) c.1546G>T (p.Gly516Trp) c.1450G>T (p.Gly484Trp) c.8370+123902C>A (n.8370+123902C>A) | gnomAD v4 |
| 2 | g.108896948C>G | CA348047546 | EDAR,RANBP2 | c.1306G>C (p.Gly436Arg) c.1402G>C (p.Gly468Arg) c.1453G>C (p.Gly485Arg) c.1357G>C (p.Gly453Arg) c.733G>C (p.Gly245Arg) c.1546G>C (p.Gly516Arg) c.1450G>C (p.Gly484Arg) c.8370+123902C>G (n.8370+123902C>G) | |
| 2 | g.108896948C>T | CA348047545 | EDAR,RANBP2 | c.1306G>A (p.Gly436Arg) c.1402G>A (p.Gly468Arg) c.1453G>A (p.Gly485Arg) c.1357G>A (p.Gly453Arg) c.733G>A (p.Gly245Arg) c.1546G>A (p.Gly516Arg) c.1450G>A (p.Gly484Arg) c.8370+123902C>T (n.8370+123902C>T) | |
| 2 | g.108896949C>A | CA428203888 | EDAR,RANBP2 | c.1305G>T (p.Ala435=) c.1401G>T (p.Ala467=) c.1452G>T (p.Ala484=) c.1356G>T (p.Ala452=) c.732G>T (p.Ala244=) c.1545G>T (p.Ala515=) c.1449G>T (p.Ala483=) c.8370+123903C>A (n.8370+123903C>A) | |
| 2 | g.108896949C= | CA1278354208 | EDAR,RANBP2 | c.1305G= (p.Ala435=) c.1401G= (p.Ala467=) c.1452G= (p.Ala484=) c.1356G= (p.Ala452=) c.732G= (p.Ala244=) c.1545G= (p.Ala515=) c.1449G= (p.Ala483=) c.8370+123903C= (n.8370+123903C=) | |
| 2 | g.108896949C>G | CA428203889 | EDAR,RANBP2 | c.1305G>C (p.Ala435=) c.1401G>C (p.Ala467=) c.1452G>C (p.Ala484=) c.1356G>C (p.Ala452=) c.732G>C (p.Ala244=) c.1545G>C (p.Ala515=) c.1449G>C (p.Ala483=) c.8370+123903C>G (n.8370+123903C>G) | gnomAD v4 |
| 2 | g.108896949C>T | CA1824788 | EDAR,RANBP2 | c.1305G>A (p.Ala435=) c.1401G>A (p.Ala467=) c.1452G>A (p.Ala484=) c.1356G>A (p.Ala452=) c.732G>A (p.Ala244=) c.1545G>A (p.Ala515=) c.1449G>A (p.Ala483=) c.8370+123903C>T (n.8370+123903C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108896950G>A | CA1824789 | EDAR,RANBP2 | c.1304C>T (p.Ala435Val) c.1400C>T (p.Ala467Val) c.1451C>T (p.Ala484Val) c.1355C>T (p.Ala452Val) c.731C>T (p.Ala244Val) c.1544C>T (p.Ala515Val) c.1448C>T (p.Ala483Val) c.8370+123904G>A (n.8370+123904G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108896950G>C | CA348047553 | EDAR,RANBP2 | c.1304C>G (p.Ala435Gly) c.1400C>G (p.Ala467Gly) c.1451C>G (p.Ala484Gly) c.1355C>G (p.Ala452Gly) c.731C>G (p.Ala244Gly) c.1544C>G (p.Ala515Gly) c.1448C>G (p.Ala483Gly) c.8370+123904G>C (n.8370+123904G>C) | |
| 2 | g.108896950G= | CA1278354209 | EDAR,RANBP2 | c.1304C= (p.Ala435=) c.1400C= (p.Ala467=) c.1451C= (p.Ala484=) c.1355C= (p.Ala452=) c.731C= (p.Ala244=) c.1544C= (p.Ala515=) c.1448C= (p.Ala483=) c.8370+123904G= (n.8370+123904G=) | |
| 2 | g.108896950G>T | CA348047554 | EDAR,RANBP2 | c.1304C>A (p.Ala435Glu) c.1400C>A (p.Ala467Glu) c.1451C>A (p.Ala484Glu) c.1355C>A (p.Ala452Glu) c.731C>A (p.Ala244Glu) c.1544C>A (p.Ala515Glu) c.1448C>A (p.Ala483Glu) c.8370+123904G>T (n.8370+123904G>T) | |
| 2 | g.108896951C>A | CA348047557 | EDAR,RANBP2 | c.1303G>T (p.Ala435Ser) c.1399G>T (p.Ala467Ser) c.1450G>T (p.Ala484Ser) c.1354G>T (p.Ala452Ser) c.730G>T (p.Ala244Ser) c.1543G>T (p.Ala515Ser) c.1447G>T (p.Ala483Ser) c.8370+123905C>A (n.8370+123905C>A) | |
| 2 | g.108896951C>G | CA348047559 | EDAR,RANBP2 | c.1303G>C (p.Ala435Pro) c.1399G>C (p.Ala467Pro) c.1450G>C (p.Ala484Pro) c.1354G>C (p.Ala452Pro) c.730G>C (p.Ala244Pro) c.1543G>C (p.Ala515Pro) c.1447G>C (p.Ala483Pro) c.8370+123905C>G (n.8370+123905C>G) | |
| 2 | g.108896951C>T | CA348047561 | EDAR,RANBP2 | c.1303G>A (p.Ala435Thr) c.1399G>A (p.Ala467Thr) c.1450G>A (p.Ala484Thr) c.1354G>A (p.Ala452Thr) c.730G>A (p.Ala244Thr) c.1543G>A (p.Ala515Thr) c.1447G>A (p.Ala483Thr) c.8370+123905C>T (n.8370+123905C>T) | |
| 2 | g.108896952C>A | CA1824790 | EDAR,RANBP2 | c.1302G>T (p.Trp434Cys) c.1398G>T (p.Trp466Cys) c.1449G>T (p.Trp483Cys) c.1353G>T (p.Trp451Cys) c.729G>T (p.Trp243Cys) c.1542G>T (p.Trp514Cys) c.1446G>T (p.Trp482Cys) c.8370+123906C>A (n.8370+123906C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108896952C= | CA1278354210 | EDAR,RANBP2 | c.1302G= (p.Trp434=) c.1398G= (p.Trp466=) c.1449G= (p.Trp483=) c.1353G= (p.Trp451=) c.729G= (p.Trp243=) c.1542G= (p.Trp514=) c.1446G= (p.Trp482=) c.8370+123906C= (n.8370+123906C=) | |
| 2 | g.108896952C>G | CA348047564 | EDAR,RANBP2 | c.1302G>C (p.Trp434Cys) c.1398G>C (p.Trp466Cys) c.1449G>C (p.Trp483Cys) c.1353G>C (p.Trp451Cys) c.729G>C (p.Trp243Cys) c.1542G>C (p.Trp514Cys) c.1446G>C (p.Trp482Cys) c.8370+123906C>G (n.8370+123906C>G) | |
| 2 | g.108896952C>T | CA348047565 | EDAR,RANBP2 | c.1302G>A (p.Trp434Ter) c.1398G>A (p.Trp466Ter) c.1449G>A (p.Trp483Ter) c.1353G>A (p.Trp451Ter) c.729G>A (p.Trp243Ter) c.1542G>A (p.Trp514Ter) c.1446G>A (p.Trp482Ter) c.8370+123906C>T (n.8370+123906C>T) | |
| 2 | g.108896953C>A | CA348047568 | EDAR,RANBP2 | c.1301G>T (p.Trp434Leu) c.1397G>T (p.Trp466Leu) c.1448G>T (p.Trp483Leu) c.1352G>T (p.Trp451Leu) c.728G>T (p.Trp243Leu) c.1541G>T (p.Trp514Leu) c.1445G>T (p.Trp482Leu) c.8370+123907C>A (n.8370+123907C>A) | |
| 2 | g.108896953C= | CA1278354211 | EDAR,RANBP2 | c.1301G= (p.Trp434=) c.1397G= (p.Trp466=) c.1448G= (p.Trp483=) c.1352G= (p.Trp451=) c.728G= (p.Trp243=) c.1541G= (p.Trp514=) c.1445G= (p.Trp482=) c.8370+123907C= (n.8370+123907C=) | |
| 2 | g.108896953C>G | CA348047570 | EDAR,RANBP2 | c.1301G>C (p.Trp434Ser) c.1397G>C (p.Trp466Ser) c.1448G>C (p.Trp483Ser) c.1352G>C (p.Trp451Ser) c.728G>C (p.Trp243Ser) c.1541G>C (p.Trp514Ser) c.1445G>C (p.Trp482Ser) c.8370+123907C>G (n.8370+123907C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.108896953C>T | CA348047572 | EDAR,RANBP2 | c.1301G>A (p.Trp434Ter) c.1397G>A (p.Trp466Ter) c.1448G>A (p.Trp483Ter) c.1352G>A (p.Trp451Ter) c.728G>A (p.Trp243Ter) c.1541G>A (p.Trp514Ter) c.1445G>A (p.Trp482Ter) c.8370+123907C>T (n.8370+123907C>T) | |
| 2 | g.108896954A= | CA1278354212 | EDAR,RANBP2 | c.1300T= (p.Trp434=) c.1396T= (p.Trp466=) c.1447T= (p.Trp483=) c.1351T= (p.Trp451=) c.727T= (p.Trp243=) c.1540T= (p.Trp514=) c.1444T= (p.Trp482=) c.8370+123908A= (n.8370+123908A=) | |
| 2 | g.108896954A>C | CA348047578 | EDAR,RANBP2 | c.1300T>G (p.Trp434Gly) c.1396T>G (p.Trp466Gly) c.1447T>G (p.Trp483Gly) c.1351T>G (p.Trp451Gly) c.727T>G (p.Trp243Gly) c.1540T>G (p.Trp514Gly) c.1444T>G (p.Trp482Gly) c.8370+123908A>C (n.8370+123908A>C) | ClinVar dbSNP |
| 2 | g.108896954A>G | CA1824791 | EDAR,RANBP2 | c.1300T>C (p.Trp434Arg) c.1396T>C (p.Trp466Arg) c.1447T>C (p.Trp483Arg) c.1351T>C (p.Trp451Arg) c.727T>C (p.Trp243Arg) c.1540T>C (p.Trp514Arg) c.1444T>C (p.Trp482Arg) c.8370+123908A>G (n.8370+123908A>G) | dbSNP ExAC gnomAD v4 |
| 2 | g.108896954A>T | CA348047576 | EDAR,RANBP2 | c.1300T>A (p.Trp434Arg) c.1396T>A (p.Trp466Arg) c.1447T>A (p.Trp483Arg) c.1351T>A (p.Trp451Arg) c.727T>A (p.Trp243Arg) c.1540T>A (p.Trp514Arg) c.1444T>A (p.Trp482Arg) c.8370+123908A>T (n.8370+123908A>T) | |
| 2 | g.108896955C>A | CA348047580 | EDAR,RANBP2 | c.1299G>T (p.Glu433Asp) c.1395G>T (p.Glu465Asp) c.1446G>T (p.Glu482Asp) c.1350G>T (p.Glu450Asp) c.726G>T (p.Glu242Asp) c.1539G>T (p.Glu513Asp) c.1443G>T (p.Glu481Asp) c.8370+123909C>A (n.8370+123909C>A) | |
| 2 | g.108896955C= | CA1278354213 | EDAR,RANBP2 | c.1299G= (p.Glu433=) c.1395G= (p.Glu465=) c.1446G= (p.Glu482=) c.1350G= (p.Glu450=) c.726G= (p.Glu242=) c.1539G= (p.Glu513=) c.1443G= (p.Glu481=) c.8370+123909C= (n.8370+123909C=) | |
| 2 | g.108896955C>G | CA348047582 | EDAR,RANBP2 | c.1299G>C (p.Glu433Asp) c.1395G>C (p.Glu465Asp) c.1446G>C (p.Glu482Asp) c.1350G>C (p.Glu450Asp) c.726G>C (p.Glu242Asp) c.1539G>C (p.Glu513Asp) c.1443G>C (p.Glu481Asp) c.8370+123909C>G (n.8370+123909C>G) | |
| 2 | g.108896955C>T | CA53464678 | EDAR,RANBP2 | c.1299G>A (p.Glu433=) c.1395G>A (p.Glu465=) c.1446G>A (p.Glu482=) c.1350G>A (p.Glu450=) c.726G>A (p.Glu242=) c.1539G>A (p.Glu513=) c.1443G>A (p.Glu481=) c.8370+123909C>T (n.8370+123909C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.108896956T>A | CA348047586 | EDAR,RANBP2 | c.1298A>T (p.Glu433Val) c.1394A>T (p.Glu465Val) c.1445A>T (p.Glu482Val) c.1349A>T (p.Glu450Val) c.725A>T (p.Glu242Val) c.1538A>T (p.Glu513Val) c.1442A>T (p.Glu481Val) c.8370+123910T>A (n.8370+123910T>A) | |
| 2 | g.108896956T>C | CA348047588 | EDAR,RANBP2 | c.1298A>G (p.Glu433Gly) c.1394A>G (p.Glu465Gly) c.1445A>G (p.Glu482Gly) c.1349A>G (p.Glu450Gly) c.725A>G (p.Glu242Gly) c.1538A>G (p.Glu513Gly) c.1442A>G (p.Glu481Gly) c.8370+123910T>C (n.8370+123910T>C) | gnomAD v4 |
| 2 | g.108896956T>G | CA348047590 | EDAR,RANBP2 | c.1298A>C (p.Glu433Ala) c.1394A>C (p.Glu465Ala) c.1445A>C (p.Glu482Ala) c.1349A>C (p.Glu450Ala) c.725A>C (p.Glu242Ala) c.1538A>C (p.Glu513Ala) c.1442A>C (p.Glu481Ala) c.8370+123910T>G (n.8370+123910T>G) | gnomAD v4 |
| 2 | g.108896957C>A | CA348047592 | EDAR,RANBP2 | c.1297G>T (p.Glu433Ter) c.1393G>T (p.Glu465Ter) c.1444G>T (p.Glu482Ter) c.1348G>T (p.Glu450Ter) c.724G>T (p.Glu242Ter) c.1537G>T (p.Glu513Ter) c.1441G>T (p.Glu481Ter) c.8370+123911C>A (n.8370+123911C>A) | ClinVar |
| 2 | g.108896957C>G | CA348047594 | EDAR,RANBP2 | c.1297G>C (p.Glu433Gln) c.1393G>C (p.Glu465Gln) c.1444G>C (p.Glu482Gln) c.1348G>C (p.Glu450Gln) c.724G>C (p.Glu242Gln) c.1537G>C (p.Glu513Gln) c.1441G>C (p.Glu481Gln) c.8370+123911C>G (n.8370+123911C>G) | |
| 2 | g.108896957C>T | CA348047595 | EDAR,RANBP2 | c.1297G>A (p.Glu433Lys) c.1393G>A (p.Glu465Lys) c.1444G>A (p.Glu482Lys) c.1348G>A (p.Glu450Lys) c.724G>A (p.Glu242Lys) c.1537G>A (p.Glu513Lys) c.1441G>A (p.Glu481Lys) c.8370+123911C>T (n.8370+123911C>T) | gnomAD v4 |
| 2 | g.108896958C>A | CA428203890 | EDAR,RANBP2 | c.1296G>T (p.Leu432=) c.1392G>T (p.Leu464=) c.1443G>T (p.Leu481=) c.1347G>T (p.Leu449=) c.723G>T (p.Leu241=) c.1536G>T (p.Leu512=) c.1440G>T (p.Leu480=) c.8370+123912C>A (n.8370+123912C>A) | |
| 2 | g.108896958C= | CA1278354214 | EDAR,RANBP2 | c.1296G= (p.Leu432=) c.1392G= (p.Leu464=) c.1443G= (p.Leu481=) c.1347G= (p.Leu449=) c.723G= (p.Leu241=) c.1536G= (p.Leu512=) c.1440G= (p.Leu480=) c.8370+123912C= (n.8370+123912C=) | |
| 2 | g.108896958C>G | CA428203892 | EDAR,RANBP2 | c.1296G>C (p.Leu432=) c.1392G>C (p.Leu464=) c.1443G>C (p.Leu481=) c.1347G>C (p.Leu449=) c.723G>C (p.Leu241=) c.1536G>C (p.Leu512=) c.1440G>C (p.Leu480=) c.8370+123912C>G (n.8370+123912C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.108896958C>T | CA428203891 | EDAR,RANBP2 | c.1296G>A (p.Leu432=) c.1392G>A (p.Leu464=) c.1443G>A (p.Leu481=) c.1347G>A (p.Leu449=) c.723G>A (p.Leu241=) c.1536G>A (p.Leu512=) c.1440G>A (p.Leu480=) c.8370+123912C>T (n.8370+123912C>T) | |
| 2 | g.108896959A>C | CA348047596 | EDAR,RANBP2 | c.1295T>G (p.Leu432Arg) c.1391T>G (p.Leu464Arg) c.1442T>G (p.Leu481Arg) c.1346T>G (p.Leu449Arg) c.722T>G (p.Leu241Arg) c.1535T>G (p.Leu512Arg) c.1439T>G (p.Leu480Arg) c.8370+123913A>C (n.8370+123913A>C) | |
| 2 | g.108896959A>G | CA348047598 | EDAR,RANBP2 | c.1295T>C (p.Leu432Pro) c.1391T>C (p.Leu464Pro) c.1442T>C (p.Leu481Pro) c.1346T>C (p.Leu449Pro) c.722T>C (p.Leu241Pro) c.1535T>C (p.Leu512Pro) c.1439T>C (p.Leu480Pro) c.8370+123913A>G (n.8370+123913A>G) | |
| 2 | g.108896959A>T | CA348047599 | EDAR,RANBP2 | c.1295T>A (p.Leu432Gln) c.1391T>A (p.Leu464Gln) c.1442T>A (p.Leu481Gln) c.1346T>A (p.Leu449Gln) c.722T>A (p.Leu241Gln) c.1535T>A (p.Leu512Gln) c.1439T>A (p.Leu480Gln) c.8370+123913A>T (n.8370+123913A>T) | |
| 2 | g.108896960G>A | CA428203893 | EDAR,RANBP2 | c.1294C>T (p.Leu432=) c.1390C>T (p.Leu464=) c.1441C>T (p.Leu481=) c.1345C>T (p.Leu449=) c.721C>T (p.Leu241=) c.1534C>T (p.Leu512=) c.1438C>T (p.Leu480=) c.8370+123914G>A (n.8370+123914G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.108896960G>C | CA348047603 | EDAR,RANBP2 | c.1294C>G (p.Leu432Val) c.1390C>G (p.Leu464Val) c.1441C>G (p.Leu481Val) c.1345C>G (p.Leu449Val) c.721C>G (p.Leu241Val) c.1534C>G (p.Leu512Val) c.1438C>G (p.Leu480Val) c.8370+123914G>C (n.8370+123914G>C) | |
| 2 | g.108896960G= | CA1278354215 | EDAR,RANBP2 | c.1294C= (p.Leu432=) c.1390C= (p.Leu464=) c.1441C= (p.Leu481=) c.1345C= (p.Leu449=) c.721C= (p.Leu241=) c.1534C= (p.Leu512=) c.1438C= (p.Leu480=) c.8370+123914G= (n.8370+123914G=) | |
| 2 | g.108896960G>T | CA348047601 | EDAR,RANBP2 | c.1294C>A (p.Leu432Met) c.1390C>A (p.Leu464Met) c.1441C>A (p.Leu481Met) c.1345C>A (p.Leu449Met) c.721C>A (p.Leu241Met) c.1534C>A (p.Leu512Met) c.1438C>A (p.Leu480Met) c.8370+123914G>T (n.8370+123914G>T) | |
| 2 | g.108896961T>A | CA428203894 | EDAR,RANBP2 | c.1293A>T (p.Ile431=) c.1389A>T (p.Ile463=) c.1440A>T (p.Ile480=) c.1344A>T (p.Ile448=) c.720A>T (p.Ile240=) c.1533A>T (p.Ile511=) c.1437A>T (p.Ile479=) c.8370+123915T>A (n.8370+123915T>A) | |
| 2 | g.108896961T>C | CA348047605 | EDAR,RANBP2 | c.1293A>G (p.Ile431Met) c.1389A>G (p.Ile463Met) c.1440A>G (p.Ile480Met) c.1344A>G (p.Ile448Met) c.720A>G (p.Ile240Met) c.1533A>G (p.Ile511Met) c.1437A>G (p.Ile479Met) c.8370+123915T>C (n.8370+123915T>C) | ClinVar dbSNP |
| 2 | g.108896961T>G | CA428203895 | EDAR,RANBP2 | c.1293A>C (p.Ile431=) c.1389A>C (p.Ile463=) c.1440A>C (p.Ile480=) c.1344A>C (p.Ile448=) c.720A>C (p.Ile240=) c.1533A>C (p.Ile511=) c.1437A>C (p.Ile479=) c.8370+123915T>G (n.8370+123915T>G) | dbSNP |
| 2 | g.108896961T= | CA1278354216 | EDAR,RANBP2 | c.1293A= (p.Ile431=) c.1389A= (p.Ile463=) c.1440A= (p.Ile480=) c.1344A= (p.Ile448=) c.720A= (p.Ile240=) c.1533A= (p.Ile511=) c.1437A= (p.Ile479=) c.8370+123915T= (n.8370+123915T=) | |
| 2 | g.108896962A= | CA1278354217 | EDAR,RANBP2 | c.1292T= (p.Ile431=) c.1388T= (p.Ile463=) c.1439T= (p.Ile480=) c.1343T= (p.Ile448=) c.719T= (p.Ile240=) c.1532T= (p.Ile511=) c.1436T= (p.Ile479=) c.8370+123916A= (n.8370+123916A=) | |
| 2 | g.108896962A>C | CA348047608 | EDAR,RANBP2 | c.1292T>G (p.Ile431Arg) c.1388T>G (p.Ile463Arg) c.1439T>G (p.Ile480Arg) c.1343T>G (p.Ile448Arg) c.719T>G (p.Ile240Arg) c.1532T>G (p.Ile511Arg) c.1436T>G (p.Ile479Arg) c.8370+123916A>C (n.8370+123916A>C) | |
| 2 | g.108896962A>G | CA348047607 | EDAR,RANBP2 | c.1292T>C (p.Ile431Thr) c.1388T>C (p.Ile463Thr) c.1439T>C (p.Ile480Thr) c.1343T>C (p.Ile448Thr) c.719T>C (p.Ile240Thr) c.1532T>C (p.Ile511Thr) c.1436T>C (p.Ile479Thr) c.8370+123916A>G (n.8370+123916A>G) | ClinVar dbSNP |
| 2 | g.108896962A>T | CA348047611 | EDAR,RANBP2 | c.1292T>A (p.Ile431Lys) c.1388T>A (p.Ile463Lys) c.1439T>A (p.Ile480Lys) c.1343T>A (p.Ile448Lys) c.719T>A (p.Ile240Lys) c.1532T>A (p.Ile511Lys) c.1436T>A (p.Ile479Lys) c.8370+123916A>T (n.8370+123916A>T) | |
| 2 | g.108896963T>A | CA348047612 | EDAR,RANBP2 | c.1291A>T (p.Ile431Leu) c.1387A>T (p.Ile463Leu) c.1438A>T (p.Ile480Leu) c.1342A>T (p.Ile448Leu) c.718A>T (p.Ile240Leu) c.1531A>T (p.Ile511Leu) c.1435A>T (p.Ile479Leu) c.8370+123917T>A (n.8370+123917T>A) | |
| 2 | g.108896963T>C | CA1824792 | EDAR,RANBP2 | c.1291A>G (p.Ile431Val) c.1387A>G (p.Ile463Val) c.1438A>G (p.Ile480Val) c.1342A>G (p.Ile448Val) c.718A>G (p.Ile240Val) c.1531A>G (p.Ile511Val) c.1435A>G (p.Ile479Val) c.8370+123917T>C (n.8370+123917T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.108896963T>G | CA348047615 | EDAR,RANBP2 | c.1291A>C (p.Ile431Leu) c.1387A>C (p.Ile463Leu) c.1438A>C (p.Ile480Leu) c.1342A>C (p.Ile448Leu) c.718A>C (p.Ile240Leu) c.1531A>C (p.Ile511Leu) c.1435A>C (p.Ile479Leu) c.8370+123917T>G (n.8370+123917T>G) | |
| 2 | g.108896963T= | CA1278354218 | EDAR,RANBP2 | c.1291A= (p.Ile431=) c.1387A= (p.Ile463=) c.1438A= (p.Ile480=) c.1342A= (p.Ile448=) c.718A= (p.Ile240=) c.1531A= (p.Ile511=) c.1435A= (p.Ile479=) c.8370+123917T= (n.8370+123917T=) | |
| 2 | g.108896964G>A | CA428203896 | EDAR,RANBP2 | c.1290C>T (p.Asp430=) c.1386C>T (p.Asp462=) c.1437C>T (p.Asp479=) c.1341C>T (p.Asp447=) c.717C>T (p.Asp239=) c.1530C>T (p.Asp510=) c.1434C>T (p.Asp478=) c.8370+123918G>A (n.8370+123918G>A) | |
| 2 | g.108896964G>C | CA348047617 | EDAR,RANBP2 | c.1290C>G (p.Asp430Glu) c.1386C>G (p.Asp462Glu) c.1437C>G (p.Asp479Glu) c.1341C>G (p.Asp447Glu) c.717C>G (p.Asp239Glu) c.1530C>G (p.Asp510Glu) c.1434C>G (p.Asp478Glu) c.8370+123918G>C (n.8370+123918G>C) | |
| 2 | g.108896964G= | CA1278354219 | EDAR,RANBP2 | c.1290C= (p.Asp430=) c.1386C= (p.Asp462=) c.1437C= (p.Asp479=) c.1341C= (p.Asp447=) c.717C= (p.Asp239=) c.1530C= (p.Asp510=) c.1434C= (p.Asp478=) c.8370+123918G= (n.8370+123918G=) | |
| 2 | g.108896964G>T | CA348047619 | EDAR,RANBP2 | c.1290C>A (p.Asp430Glu) c.1386C>A (p.Asp462Glu) c.1437C>A (p.Asp479Glu) c.1341C>A (p.Asp447Glu) c.717C>A (p.Asp239Glu) c.1530C>A (p.Asp510Glu) c.1434C>A (p.Asp478Glu) c.8370+123918G>T (n.8370+123918G>T) | dbSNP |
| 2 | g.108896965T>A | CA348047624 | EDAR,RANBP2 | c.1289A>T (p.Asp430Val) c.1385A>T (p.Asp462Val) c.1436A>T (p.Asp479Val) c.1340A>T (p.Asp447Val) c.716A>T (p.Asp239Val) c.1529A>T (p.Asp510Val) c.1433A>T (p.Asp478Val) c.8370+123919T>A (n.8370+123919T>A) | |
| 2 | g.108896965T>C | CA348047622 | EDAR,RANBP2 | c.1289A>G (p.Asp430Gly) c.1385A>G (p.Asp462Gly) c.1436A>G (p.Asp479Gly) c.1340A>G (p.Asp447Gly) c.716A>G (p.Asp239Gly) c.1529A>G (p.Asp510Gly) c.1433A>G (p.Asp478Gly) c.8370+123919T>C (n.8370+123919T>C) | |
| 2 | g.108896965T>G | CA348047621 | EDAR,RANBP2 | c.1289A>C (p.Asp430Ala) c.1385A>C (p.Asp462Ala) c.1436A>C (p.Asp479Ala) c.1340A>C (p.Asp447Ala) c.716A>C (p.Asp239Ala) c.1529A>C (p.Asp510Ala) c.1433A>C (p.Asp478Ala) c.8370+123919T>G (n.8370+123919T>G) | |
| 2 | g.108896966C>A | CA348047626 | EDAR,RANBP2 | c.1288G>T (p.Asp430Tyr) c.1384G>T (p.Asp462Tyr) c.1435G>T (p.Asp479Tyr) c.1339G>T (p.Asp447Tyr) c.715G>T (p.Asp239Tyr) c.1528G>T (p.Asp510Tyr) c.1432G>T (p.Asp478Tyr) c.8370+123920C>A (n.8370+123920C>A) | |
| 2 | g.108896966C= | CA1278354220 | EDAR,RANBP2 | c.1288G= (p.Asp430=) c.1384G= (p.Asp462=) c.1435G= (p.Asp479=) c.1339G= (p.Asp447=) c.715G= (p.Asp239=) c.1528G= (p.Asp510=) c.1432G= (p.Asp478=) c.8370+123920C= (n.8370+123920C=) | |
| 2 | g.108896966C>G | CA348047627 | EDAR,RANBP2 | c.1288G>C (p.Asp430His) c.1384G>C (p.Asp462His) c.1435G>C (p.Asp479His) c.1339G>C (p.Asp447His) c.715G>C (p.Asp239His) c.1528G>C (p.Asp510His) c.1432G>C (p.Asp478His) c.8370+123920C>G (n.8370+123920C>G) | |
| 2 | g.108896966C>T | CA10611771 | EDAR,RANBP2 | c.1288G>A (p.Asp430Asn) c.1384G>A (p.Asp462Asn) c.1435G>A (p.Asp479Asn) c.1339G>A (p.Asp447Asn) c.715G>A (p.Asp239Asn) c.1528G>A (p.Asp510Asn) c.1432G>A (p.Asp478Asn) c.8370+123920C>T (n.8370+123920C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.108896967T>A | CA428203900 | EDAR,RANBP2 | c.1287A>T (p.Ala429=) c.1383A>T (p.Ala461=) c.1434A>T (p.Ala478=) c.1338A>T (p.Ala446=) c.714A>T (p.Ala238=) c.1527A>T (p.Ala509=) c.1431A>T (p.Ala477=) c.8370+123921T>A (n.8370+123921T>A) | |
| 2 | g.108896967T>C | CA428203901 | EDAR,RANBP2 | c.1287A>G (p.Ala429=) c.1383A>G (p.Ala461=) c.1434A>G (p.Ala478=) c.1338A>G (p.Ala446=) c.714A>G (p.Ala238=) c.1527A>G (p.Ala509=) c.1431A>G (p.Ala477=) c.8370+123921T>C (n.8370+123921T>C) | gnomAD v4 |
| 2 | g.108896967T>G | CA428203902 | EDAR,RANBP2 | c.1287A>C (p.Ala429=) c.1383A>C (p.Ala461=) c.1434A>C (p.Ala478=) c.1338A>C (p.Ala446=) c.714A>C (p.Ala238=) c.1527A>C (p.Ala509=) c.1431A>C (p.Ala477=) c.8370+123921T>G (n.8370+123921T>G) | |
| 2 | g.108896968G>A | CA348047631 | EDAR,RANBP2 | c.1286C>T (p.Ala429Val) c.1382C>T (p.Ala461Val) c.1433C>T (p.Ala478Val) c.1337C>T (p.Ala446Val) c.713C>T (p.Ala238Val) c.1526C>T (p.Ala509Val) c.1430C>T (p.Ala477Val) c.8370+123922G>A (n.8370+123922G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.108896968G>C | CA348047633 | EDAR,RANBP2 | c.1286C>G (p.Ala429Gly) c.1382C>G (p.Ala461Gly) c.1433C>G (p.Ala478Gly) c.1337C>G (p.Ala446Gly) c.713C>G (p.Ala238Gly) c.1526C>G (p.Ala509Gly) c.1430C>G (p.Ala477Gly) c.8370+123922G>C (n.8370+123922G>C) | |
| 2 | g.108896968G= | CA1278354221 | EDAR,RANBP2 | c.1286C= (p.Ala429=) c.1382C= (p.Ala461=) c.1433C= (p.Ala478=) c.1337C= (p.Ala446=) c.713C= (p.Ala238=) c.1526C= (p.Ala509=) c.1430C= (p.Ala477=) c.8370+123922G= (n.8370+123922G=) | |
| 2 | g.108896968G>T | CA348047635 | EDAR,RANBP2 | c.1286C>A (p.Ala429Glu) c.1382C>A (p.Ala461Glu) c.1433C>A (p.Ala478Glu) c.1337C>A (p.Ala446Glu) c.713C>A (p.Ala238Glu) c.1526C>A (p.Ala509Glu) c.1430C>A (p.Ala477Glu) c.8370+123922G>T (n.8370+123922G>T) | |
| 2 | g.108896969C>A | CA348047637 | EDAR,RANBP2 | c.1285G>T (p.Ala429Ser) c.1381G>T (p.Ala461Ser) c.1432G>T (p.Ala478Ser) c.1336G>T (p.Ala446Ser) c.712G>T (p.Ala238Ser) c.1525G>T (p.Ala509Ser) c.1429G>T (p.Ala477Ser) c.8370+123923C>A (n.8370+123923C>A) | |
| 2 | g.108896969C>G | CA348047641 | EDAR,RANBP2 | c.1285G>C (p.Ala429Pro) c.1381G>C (p.Ala461Pro) c.1432G>C (p.Ala478Pro) c.1336G>C (p.Ala446Pro) c.712G>C (p.Ala238Pro) c.1525G>C (p.Ala509Pro) c.1429G>C (p.Ala477Pro) c.8370+123923C>G (n.8370+123923C>G) | |
| 2 | g.108896969C>T | CA348047639 | EDAR,RANBP2 | c.1285G>A (p.Ala429Thr) c.1381G>A (p.Ala461Thr) c.1432G>A (p.Ala478Thr) c.1336G>A (p.Ala446Thr) c.712G>A (p.Ala238Thr) c.1525G>A (p.Ala509Thr) c.1429G>A (p.Ala477Thr) c.8370+123923C>T (n.8370+123923C>T) | gnomAD v4 |
| 2 | g.108896970A= | CA1278354222 | EDAR,RANBP2 | c.1284T= (p.Cys428=) c.1380T= (p.Cys460=) c.1431T= (p.Cys477=) c.1335T= (p.Cys445=) c.711T= (p.Cys237=) c.1524T= (p.Cys508=) c.1428T= (p.Cys476=) c.8370+123924A= (n.8370+123924A=) | |
| 2 | g.108896970A>C | CA16617223 | EDAR,RANBP2 | c.1284T>G (p.Cys428Trp) c.1380T>G (p.Cys460Trp) c.1431T>G (p.Cys477Trp) c.1335T>G (p.Cys445Trp) c.711T>G (p.Cys237Trp) c.1524T>G (p.Cys508Trp) c.1428T>G (p.Cys476Trp) c.8370+123924A>C (n.8370+123924A>C) | ClinVar dbSNP |
| 2 | g.108896970A>G | CA428203904 | EDAR,RANBP2 | c.1284T>C (p.Cys428=) c.1380T>C (p.Cys460=) c.1431T>C (p.Cys477=) c.1335T>C (p.Cys445=) c.711T>C (p.Cys237=) c.1524T>C (p.Cys508=) c.1428T>C (p.Cys476=) c.8370+123924A>G (n.8370+123924A>G) | |
| 2 | g.108896970A>T | CA10602612 | EDAR,RANBP2 | c.1284T>A (p.Cys428Ter) c.1380T>A (p.Cys460Ter) c.1431T>A (p.Cys477Ter) c.1335T>A (p.Cys445Ter) c.711T>A (p.Cys237Ter) c.1524T>A (p.Cys508Ter) c.1428T>A (p.Cys476Ter) c.8370+123924A>T (n.8370+123924A>T) | ClinVar dbSNP |
| 2 | g.108896971C>A | CA348047643 | EDAR,RANBP2 | c.1283G>T (p.Cys428Phe) c.1379G>T (p.Cys460Phe) c.1430G>T (p.Cys477Phe) c.1334G>T (p.Cys445Phe) c.710G>T (p.Cys237Phe) c.1523G>T (p.Cys508Phe) c.1427G>T (p.Cys476Phe) c.8370+123925C>A (n.8370+123925C>A) | |
| 2 | g.108896971C>G | CA348047645 | EDAR,RANBP2 | c.1283G>C (p.Cys428Ser) c.1379G>C (p.Cys460Ser) c.1430G>C (p.Cys477Ser) c.1334G>C (p.Cys445Ser) c.710G>C (p.Cys237Ser) c.1523G>C (p.Cys508Ser) c.1427G>C (p.Cys476Ser) c.8370+123925C>G (n.8370+123925C>G) | |
| 2 | g.108896971C>T | CA348047646 | EDAR,RANBP2 | c.1283G>A (p.Cys428Tyr) c.1379G>A (p.Cys460Tyr) c.1430G>A (p.Cys477Tyr) c.1334G>A (p.Cys445Tyr) c.710G>A (p.Cys237Tyr) c.1523G>A (p.Cys508Tyr) c.1427G>A (p.Cys476Tyr) c.8370+123925C>T (n.8370+123925C>T) | |
| 2 | g.108896972A>C | CA348047650 | EDAR,RANBP2 | c.1282T>G (p.Cys428Gly) c.1378T>G (p.Cys460Gly) c.1429T>G (p.Cys477Gly) c.1333T>G (p.Cys445Gly) c.709T>G (p.Cys237Gly) c.1522T>G (p.Cys508Gly) c.1426T>G (p.Cys476Gly) c.8370+123926A>C (n.8370+123926A>C) | gnomAD v4 |
| 2 | g.108896972A>G | CA348047651 | EDAR,RANBP2 | c.1282T>C (p.Cys428Arg) c.1378T>C (p.Cys460Arg) c.1429T>C (p.Cys477Arg) c.1333T>C (p.Cys445Arg) c.709T>C (p.Cys237Arg) c.1522T>C (p.Cys508Arg) c.1426T>C (p.Cys476Arg) c.8370+123926A>G (n.8370+123926A>G) | ClinVar |
| 2 | g.108896972A>T | CA348047652 | EDAR,RANBP2 | c.1282T>A (p.Cys428Ser) c.1378T>A (p.Cys460Ser) c.1429T>A (p.Cys477Ser) c.1333T>A (p.Cys445Ser) c.709T>A (p.Cys237Ser) c.1522T>A (p.Cys508Ser) c.1426T>A (p.Cys476Ser) c.8370+123926A>T (n.8370+123926A>T) | |
| 2 | g.108896973C>A | CA348047654 | EDAR,RANBP2 | c.1281G>T (p.Leu427Phe) c.1377G>T (p.Leu459Phe) c.1428G>T (p.Leu476Phe) c.1332G>T (p.Leu444Phe) c.708G>T (p.Leu236Phe) c.1521G>T (p.Leu507Phe) c.1425G>T (p.Leu475Phe) c.8370+123927C>A (n.8370+123927C>A) | |
| 2 | g.108896973C>G | CA348047656 | EDAR,RANBP2 | c.1281G>C (p.Leu427Phe) c.1377G>C (p.Leu459Phe) c.1428G>C (p.Leu476Phe) c.1332G>C (p.Leu444Phe) c.708G>C (p.Leu236Phe) c.1521G>C (p.Leu507Phe) c.1425G>C (p.Leu475Phe) c.8370+123927C>G (n.8370+123927C>G) | |
| 2 | g.108896973C>T | CA428203906 | EDAR,RANBP2 | c.1281G>A (p.Leu427=) c.1377G>A (p.Leu459=) c.1428G>A (p.Leu476=) c.1332G>A (p.Leu444=) c.708G>A (p.Leu236=) c.1521G>A (p.Leu507=) c.1425G>A (p.Leu475=) c.8370+123927C>T (n.8370+123927C>T) | gnomAD v4 |
| 2 | g.108896974A>C | CA348047662 | EDAR,RANBP2 | c.1280T>G (p.Leu427Trp) c.1376T>G (p.Leu459Trp) c.1427T>G (p.Leu476Trp) c.1331T>G (p.Leu444Trp) c.707T>G (p.Leu236Trp) c.1520T>G (p.Leu507Trp) c.1424T>G (p.Leu475Trp) c.8370+123928A>C (n.8370+123928A>C) | ClinVar |
| 2 | g.108896974A>G | CA348047660 | EDAR,RANBP2 | c.1280T>C (p.Leu427Ser) c.1376T>C (p.Leu459Ser) c.1427T>C (p.Leu476Ser) c.1331T>C (p.Leu444Ser) c.707T>C (p.Leu236Ser) c.1520T>C (p.Leu507Ser) c.1424T>C (p.Leu475Ser) c.8370+123928A>G (n.8370+123928A>G) | ClinVar |
| 2 | g.108896974A>T | CA348047658 | EDAR,RANBP2 | c.1280T>A (p.Leu427Ter) c.1376T>A (p.Leu459Ter) c.1427T>A (p.Leu476Ter) c.1331T>A (p.Leu444Ter) c.707T>A (p.Leu236Ter) c.1520T>A (p.Leu507Ter) c.1424T>A (p.Leu475Ter) c.8370+123928A>T (n.8370+123928A>T) | |
| 2 | g.108896975A>C | CA348047663 | EDAR,RANBP2 | c.1279T>G (p.Leu427Val) c.1375T>G (p.Leu459Val) c.1426T>G (p.Leu476Val) c.1330T>G (p.Leu444Val) c.706T>G (p.Leu236Val) c.1519T>G (p.Leu507Val) c.1423T>G (p.Leu475Val) c.8370+123929A>C (n.8370+123929A>C) | |
| 2 | g.108896975A>G | CA428203907 | EDAR,RANBP2 | c.1279T>C (p.Leu427=) c.1375T>C (p.Leu459=) c.1426T>C (p.Leu476=) c.1330T>C (p.Leu444=) c.706T>C (p.Leu236=) c.1519T>C (p.Leu507=) c.1423T>C (p.Leu475=) c.8370+123929A>G (n.8370+123929A>G) | |
| 2 | g.108896975A>T | CA348047665 | EDAR,RANBP2 | c.1279T>A (p.Leu427Met) c.1375T>A (p.Leu459Met) c.1426T>A (p.Leu476Met) c.1330T>A (p.Leu444Met) c.706T>A (p.Leu236Met) c.1519T>A (p.Leu507Met) c.1423T>A (p.Leu475Met) c.8370+123929A>T (n.8370+123929A>T) | |
| 2 | g.108896976G>A | CA428203909 | EDAR,RANBP2 | c.1278C>T (p.Ser426=) c.1374C>T (p.Ser458=) c.1425C>T (p.Ser475=) c.1329C>T (p.Ser443=) c.705C>T (p.Ser235=) c.1518C>T (p.Ser506=) c.1422C>T (p.Ser474=) c.8370+123930G>A (n.8370+123930G>A) | |
| 2 | g.108896976G>C | CA428203910 | EDAR,RANBP2 | c.1278C>G (p.Ser426=) c.1374C>G (p.Ser458=) c.1425C>G (p.Ser475=) c.1329C>G (p.Ser443=) c.705C>G (p.Ser235=) c.1518C>G (p.Ser506=) c.1422C>G (p.Ser474=) c.8370+123930G>C (n.8370+123930G>C) | gnomAD v4 |
| 2 | g.108896976G>T | CA428203911 | EDAR,RANBP2 | c.1278C>A (p.Ser426=) c.1374C>A (p.Ser458=) c.1425C>A (p.Ser475=) c.1329C>A (p.Ser443=) c.705C>A (p.Ser235=) c.1518C>A (p.Ser506=) c.1422C>A (p.Ser474=) c.8370+123930G>T (n.8370+123930G>T) | COSMIC COSMIC |
| 2 | g.108896977G>A | CA1824793 | EDAR,RANBP2 | c.1277C>T (p.Ser426Phe) c.1373C>T (p.Ser458Phe) c.1424C>T (p.Ser475Phe) c.1328C>T (p.Ser443Phe) c.704C>T (p.Ser235Phe) c.1517C>T (p.Ser506Phe) c.1421C>T (p.Ser474Phe) c.8370+123931G>A (n.8370+123931G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.108896977G>C | CA348047667 | EDAR,RANBP2 | c.1277C>G (p.Ser426Cys) c.1373C>G (p.Ser458Cys) c.1424C>G (p.Ser475Cys) c.1328C>G (p.Ser443Cys) c.704C>G (p.Ser235Cys) c.1517C>G (p.Ser506Cys) c.1421C>G (p.Ser474Cys) c.8370+123931G>C (n.8370+123931G>C) | |
| 2 | g.108896977G= | CA1278354223 | EDAR,RANBP2 | c.1277C= (p.Ser426=) c.1373C= (p.Ser458=) c.1424C= (p.Ser475=) c.1328C= (p.Ser443=) c.704C= (p.Ser235=) c.1517C= (p.Ser506=) c.1421C= (p.Ser474=) c.8370+123931G= (n.8370+123931G=) | |
| 2 | g.108896977G>T | CA348047669 | EDAR,RANBP2 | c.1277C>A (p.Ser426Tyr) c.1373C>A (p.Ser458Tyr) c.1424C>A (p.Ser475Tyr) c.1328C>A (p.Ser443Tyr) c.704C>A (p.Ser235Tyr) c.1517C>A (p.Ser506Tyr) c.1421C>A (p.Ser474Tyr) c.8370+123931G>T (n.8370+123931G>T) | |
| 2 | g.108896978A= | CA1278354224 | EDAR,RANBP2 | c.1276T= (p.Ser426=) c.1372T= (p.Ser458=) c.1423T= (p.Ser475=) c.1327T= (p.Ser443=) c.703T= (p.Ser235=) c.1516T= (p.Ser506=) c.1420T= (p.Ser474=) c.8370+123932A= (n.8370+123932A=) | |
| 2 | g.108896978A>C | CA348047671 | EDAR,RANBP2 | c.1276T>G (p.Ser426Ala) c.1372T>G (p.Ser458Ala) c.1423T>G (p.Ser475Ala) c.1327T>G (p.Ser443Ala) c.703T>G (p.Ser235Ala) c.1516T>G (p.Ser506Ala) c.1420T>G (p.Ser474Ala) c.8370+123932A>C (n.8370+123932A>C) | dbSNP |
| 2 | g.108896978A>G | CA348047673 | EDAR,RANBP2 | c.1276T>C (p.Ser426Pro) c.1372T>C (p.Ser458Pro) c.1423T>C (p.Ser475Pro) c.1327T>C (p.Ser443Pro) c.703T>C (p.Ser235Pro) c.1516T>C (p.Ser506Pro) c.1420T>C (p.Ser474Pro) c.8370+123932A>G (n.8370+123932A>G) | |
| 2 | g.108896978A>T | CA348047675 | EDAR,RANBP2 | c.1276T>A (p.Ser426Thr) c.1372T>A (p.Ser458Thr) c.1423T>A (p.Ser475Thr) c.1327T>A (p.Ser443Thr) c.703T>A (p.Ser235Thr) c.1516T>A (p.Ser506Thr) c.1420T>A (p.Ser474Thr) c.8370+123932A>T (n.8370+123932A>T) | |
| 2 | g.108896979C>A | CA348047677 | EDAR,RANBP2 | c.1275G>T (p.Glu425Asp) c.1371G>T (p.Glu457Asp) c.1422G>T (p.Glu474Asp) c.1326G>T (p.Glu442Asp) c.702G>T (p.Glu234Asp) c.1515G>T (p.Glu505Asp) c.1419G>T (p.Glu473Asp) c.8370+123933C>A (n.8370+123933C>A) | gnomAD v4 |
| 2 | g.108896979C>G | CA348047679 | EDAR,RANBP2 | c.1275G>C (p.Glu425Asp) c.1371G>C (p.Glu457Asp) c.1422G>C (p.Glu474Asp) c.1326G>C (p.Glu442Asp) c.702G>C (p.Glu234Asp) c.1515G>C (p.Glu505Asp) c.1419G>C (p.Glu473Asp) c.8370+123933C>G (n.8370+123933C>G) | |
| 2 | g.108896979C>T | CA428203913 | EDAR,RANBP2 | c.1275G>A (p.Glu425=) c.1371G>A (p.Glu457=) c.1422G>A (p.Glu474=) c.1326G>A (p.Glu442=) c.702G>A (p.Glu234=) c.1515G>A (p.Glu505=) c.1419G>A (p.Glu473=) c.8370+123933C>T (n.8370+123933C>T) | |
| 2 | g.108896980T>A | CA348047681 | EDAR,RANBP2 | c.1274A>T (p.Glu425Val) c.1370A>T (p.Glu457Val) c.1421A>T (p.Glu474Val) c.1325A>T (p.Glu442Val) c.701A>T (p.Glu234Val) c.1514A>T (p.Glu505Val) c.1418A>T (p.Glu473Val) c.8370+123934T>A (n.8370+123934T>A) | |
| 2 | g.108896980T>C | CA348047683 | EDAR,RANBP2 | c.1274A>G (p.Glu425Gly) c.1370A>G (p.Glu457Gly) c.1421A>G (p.Glu474Gly) c.1325A>G (p.Glu442Gly) c.701A>G (p.Glu234Gly) c.1514A>G (p.Glu505Gly) c.1418A>G (p.Glu473Gly) c.8370+123934T>C (n.8370+123934T>C) | |
| 2 | g.108896980T>G | CA348047685 | EDAR,RANBP2 | c.1274A>C (p.Glu425Ala) c.1370A>C (p.Glu457Ala) c.1421A>C (p.Glu474Ala) c.1325A>C (p.Glu442Ala) c.701A>C (p.Glu234Ala) c.1514A>C (p.Glu505Ala) c.1418A>C (p.Glu473Ala) c.8370+123934T>G (n.8370+123934T>G) | |
| 2 | g.108896981C>A | CA348047691 | EDAR,RANBP2 | c.1273G>T (p.Glu425Ter) c.1369G>T (p.Glu457Ter) c.1420G>T (p.Glu474Ter) c.1324G>T (p.Glu442Ter) c.700G>T (p.Glu234Ter) c.1513G>T (p.Glu505Ter) c.1417G>T (p.Glu473Ter) c.8370+123935C>A (n.8370+123935C>A) | |
| 2 | g.108896981C>G | CA348047687 | EDAR,RANBP2 | c.1273G>C (p.Glu425Gln) c.1369G>C (p.Glu457Gln) c.1420G>C (p.Glu474Gln) c.1324G>C (p.Glu442Gln) c.700G>C (p.Glu234Gln) c.1513G>C (p.Glu505Gln) c.1417G>C (p.Glu473Gln) c.8370+123935C>G (n.8370+123935C>G) | |
| 2 | g.108896981C>T | CA348047689 | EDAR,RANBP2 | c.1273G>A (p.Glu425Lys) c.1369G>A (p.Glu457Lys) c.1420G>A (p.Glu474Lys) c.1324G>A (p.Glu442Lys) c.700G>A (p.Glu234Lys) c.1513G>A (p.Glu505Lys) c.1417G>A (p.Glu473Lys) c.8370+123935C>T (n.8370+123935C>T) | ClinVar dbSNP |
| 2 | g.108896982C>A | CA428203918 | EDAR,RANBP2 | c.1272G>T (p.Val424=) c.1368G>T (p.Val456=) c.1419G>T (p.Val473=) c.1323G>T (p.Val441=) c.699G>T (p.Val233=) c.1512G>T (p.Val504=) c.1416G>T (p.Val472=) c.8370+123936C>A (n.8370+123936C>A) | |
| 2 | g.108896982C= | CA1278354225 | EDAR,RANBP2 | c.1272G= (p.Val424=) c.1368G= (p.Val456=) c.1419G= (p.Val473=) c.1323G= (p.Val441=) c.699G= (p.Val233=) c.1512G= (p.Val504=) c.1416G= (p.Val472=) c.8370+123936C= (n.8370+123936C=) | |
| 2 | g.108896982C>G | CA428203917 | EDAR,RANBP2 | c.1272G>C (p.Val424=) c.1368G>C (p.Val456=) c.1419G>C (p.Val473=) c.1323G>C (p.Val441=) c.699G>C (p.Val233=) c.1512G>C (p.Val504=) c.1416G>C (p.Val472=) c.8370+123936C>G (n.8370+123936C>G) | |
| 2 | g.108896982C>T | CA1824794 | EDAR,RANBP2 | c.1272G>A (p.Val424=) c.1368G>A (p.Val456=) c.1419G>A (p.Val473=) c.1323G>A (p.Val441=) c.699G>A (p.Val233=) c.1512G>A (p.Val504=) c.1416G>A (p.Val472=) c.8370+123936C>T (n.8370+123936C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108896983A>C | CA348047695 | EDAR,RANBP2 | c.1271T>G (p.Val424Gly) c.1367T>G (p.Val456Gly) c.1418T>G (p.Val473Gly) c.1322T>G (p.Val441Gly) c.698T>G (p.Val233Gly) c.1511T>G (p.Val504Gly) c.1415T>G (p.Val472Gly) c.8370+123937A>C (n.8370+123937A>C) | |
| 2 | g.108896983A>G | CA348047698 | EDAR,RANBP2 | c.1271T>C (p.Val424Ala) c.1367T>C (p.Val456Ala) c.1418T>C (p.Val473Ala) c.1322T>C (p.Val441Ala) c.698T>C (p.Val233Ala) c.1511T>C (p.Val504Ala) c.1415T>C (p.Val472Ala) c.8370+123937A>G (n.8370+123937A>G) | |
| 2 | g.108896983A>T | CA348047700 | EDAR,RANBP2 | c.1271T>A (p.Val424Glu) c.1367T>A (p.Val456Glu) c.1418T>A (p.Val473Glu) c.1322T>A (p.Val441Glu) c.698T>A (p.Val233Glu) c.1511T>A (p.Val504Glu) c.1415T>A (p.Val472Glu) c.8370+123937A>T (n.8370+123937A>T) | |
| 2 | g.108896984C>A | CA348047702 | EDAR,RANBP2 | c.1270G>T (p.Val424Leu) c.1366G>T (p.Val456Leu) c.1417G>T (p.Val473Leu) c.1321G>T (p.Val441Leu) c.697G>T (p.Val233Leu) c.1510G>T (p.Val504Leu) c.1414G>T (p.Val472Leu) c.8370+123938C>A (n.8370+123938C>A) | |
| 2 | g.108896984C= | CA1278354226 | EDAR,RANBP2 | c.1270G= (p.Val424=) c.1366G= (p.Val456=) c.1417G= (p.Val473=) c.1321G= (p.Val441=) c.697G= (p.Val233=) c.1510G= (p.Val504=) c.1414G= (p.Val472=) c.8370+123938C= (n.8370+123938C=) | |
| 2 | g.108896984C>G | CA348047704 | EDAR,RANBP2 | c.1270G>C (p.Val424Leu) c.1366G>C (p.Val456Leu) c.1417G>C (p.Val473Leu) c.1321G>C (p.Val441Leu) c.697G>C (p.Val233Leu) c.1510G>C (p.Val504Leu) c.1414G>C (p.Val472Leu) c.8370+123938C>G (n.8370+123938C>G) | |
| 2 | g.108896984C>T | CA348047707 | EDAR,RANBP2 | c.1270G>A (p.Val424Met) c.1366G>A (p.Val456Met) c.1417G>A (p.Val473Met) c.1321G>A (p.Val441Met) c.697G>A (p.Val233Met) c.1510G>A (p.Val504Met) c.1414G>A (p.Val472Met) c.8370+123938C>T (n.8370+123938C>T) | ClinVar dbSNP |
| 2 | g.108896985A= | CA1278354227 | EDAR,RANBP2 | c.1269T= (p.Ala423=) c.1365T= (p.Ala455=) c.1416T= (p.Ala472=) c.1320T= (p.Ala440=) c.696T= (p.Ala232=) c.1509T= (p.Ala503=) c.1413T= (p.Ala471=) c.8370+123939A= (n.8370+123939A=) | |
| 2 | g.108896985A>C | CA428203921 | EDAR,RANBP2 | c.1269T>G (p.Ala423=) c.1365T>G (p.Ala455=) c.1416T>G (p.Ala472=) c.1320T>G (p.Ala440=) c.696T>G (p.Ala232=) c.1509T>G (p.Ala503=) c.1413T>G (p.Ala471=) c.8370+123939A>C (n.8370+123939A>C) | |
| 2 | g.108896985A>G | CA1824795 | EDAR,RANBP2 | c.1269T>C (p.Ala423=) c.1365T>C (p.Ala455=) c.1416T>C (p.Ala472=) c.1320T>C (p.Ala440=) c.696T>C (p.Ala232=) c.1509T>C (p.Ala503=) c.1413T>C (p.Ala471=) c.8370+123939A>G (n.8370+123939A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.108896985A>T | CA428203922 | EDAR,RANBP2 | c.1269T>A (p.Ala423=) c.1365T>A (p.Ala455=) c.1416T>A (p.Ala472=) c.1320T>A (p.Ala440=) c.696T>A (p.Ala232=) c.1509T>A (p.Ala503=) c.1413T>A (p.Ala471=) c.8370+123939A>T (n.8370+123939A>T) | |
| 2 | g.108896986G>A | CA348047711 | EDAR,RANBP2 | c.1268C>T (p.Ala423Val) c.1364C>T (p.Ala455Val) c.1415C>T (p.Ala472Val) c.1319C>T (p.Ala440Val) c.695C>T (p.Ala232Val) c.1508C>T (p.Ala503Val) c.1412C>T (p.Ala471Val) c.8370+123940G>A (n.8370+123940G>A) | |
| 2 | g.108896986G>C | CA348047712 | EDAR,RANBP2 | c.1268C>G (p.Ala423Gly) c.1364C>G (p.Ala455Gly) c.1415C>G (p.Ala472Gly) c.1319C>G (p.Ala440Gly) c.695C>G (p.Ala232Gly) c.1508C>G (p.Ala503Gly) c.1412C>G (p.Ala471Gly) c.8370+123940G>C (n.8370+123940G>C) | |
| 2 | g.108896986G>T | CA348047715 | EDAR,RANBP2 | c.1268C>A (p.Ala423Asp) c.1364C>A (p.Ala455Asp) c.1415C>A (p.Ala472Asp) c.1319C>A (p.Ala440Asp) c.695C>A (p.Ala232Asp) c.1508C>A (p.Ala503Asp) c.1412C>A (p.Ala471Asp) c.8370+123940G>T (n.8370+123940G>T) | |
| 2 | g.108896987C>A | CA348047721 | EDAR,RANBP2 | c.1267G>T (p.Ala423Ser) c.1363G>T (p.Ala455Ser) c.1414G>T (p.Ala472Ser) c.1318G>T (p.Ala440Ser) c.694G>T (p.Ala232Ser) c.1507G>T (p.Ala503Ser) c.1411G>T (p.Ala471Ser) c.8370+123941C>A (n.8370+123941C>A) | |
| 2 | g.108896987C>G | CA348047719 | EDAR,RANBP2 | c.1267G>C (p.Ala423Pro) c.1363G>C (p.Ala455Pro) c.1414G>C (p.Ala472Pro) c.1318G>C (p.Ala440Pro) c.694G>C (p.Ala232Pro) c.1507G>C (p.Ala503Pro) c.1411G>C (p.Ala471Pro) c.8370+123941C>G (n.8370+123941C>G) | |
| 2 | g.108896987C>T | CA348047717 | EDAR,RANBP2 | c.1267G>A (p.Ala423Thr) c.1363G>A (p.Ala455Thr) c.1414G>A (p.Ala472Thr) c.1318G>A (p.Ala440Thr) c.694G>A (p.Ala232Thr) c.1507G>A (p.Ala503Thr) c.1411G>A (p.Ala471Thr) c.8370+123941C>T (n.8370+123941C>T) | ClinVar COSMIC |