Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.108897075_108897086del | CA2740095682 | EDAR,RANBP2 | c.1174_1185del (p.Thr392_Met395del) c.1270_1281del (p.Thr424_Met427del) c.1321_1332del (p.Thr441_Met444del) c.1225_1236del (p.Thr409_Met412del) c.601_612del (p.Thr201_Met204del) c.1414_1425del (p.Thr472_Met475del) c.1318_1329del (p.Thr440_Met443del) c.8370+124029_8370+124040del (n.8370+124029_8370+124040del) | ClinVar |
2 | g.108897072G>A | CA428204089 | EDAR,RANBP2 | c.1182C>T (p.Gly394=) c.1278C>T (p.Gly426=) c.1329C>T (p.Gly443=) c.1233C>T (p.Gly411=) c.609C>T (p.Gly203=) c.1422C>T (p.Gly474=) c.1326C>T (p.Gly442=) c.8370+124026G>A (n.8370+124026G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897072G>C | CA428204090 | EDAR,RANBP2 | c.1182C>G (p.Gly394=) c.1278C>G (p.Gly426=) c.1329C>G (p.Gly443=) c.1233C>G (p.Gly411=) c.609C>G (p.Gly203=) c.1422C>G (p.Gly474=) c.1326C>G (p.Gly442=) c.8370+124026G>C (n.8370+124026G>C) | |
2 | g.108897072G= | CA1278354259 | EDAR,RANBP2 | c.1182C= (p.Gly394=) c.1278C= (p.Gly426=) c.1329C= (p.Gly443=) c.1233C= (p.Gly411=) c.609C= (p.Gly203=) c.1422C= (p.Gly474=) c.1326C= (p.Gly442=) c.8370+124026G= (n.8370+124026G=) | |
2 | g.108897072G>T | CA428204095 | EDAR,RANBP2 | c.1182C>A (p.Gly394=) c.1278C>A (p.Gly426=) c.1329C>A (p.Gly443=) c.1233C>A (p.Gly411=) c.609C>A (p.Gly203=) c.1422C>A (p.Gly474=) c.1326C>A (p.Gly442=) c.8370+124026G>T (n.8370+124026G>T) | |
2 | g.108897073C>A | CA348048047 | EDAR,RANBP2 | c.1181G>T (p.Gly394Val) c.1277G>T (p.Gly426Val) c.1328G>T (p.Gly443Val) c.1232G>T (p.Gly411Val) c.608G>T (p.Gly203Val) c.1421G>T (p.Gly474Val) c.1325G>T (p.Gly442Val) c.8370+124027C>A (n.8370+124027C>A) | |
2 | g.108897073C>G | CA348048049 | EDAR,RANBP2 | c.1181G>C (p.Gly394Ala) c.1277G>C (p.Gly426Ala) c.1328G>C (p.Gly443Ala) c.1232G>C (p.Gly411Ala) c.608G>C (p.Gly203Ala) c.1421G>C (p.Gly474Ala) c.1325G>C (p.Gly442Ala) c.8370+124027C>G (n.8370+124027C>G) | |
2 | g.108897073C>T | CA348048048 | EDAR,RANBP2 | c.1181G>A (p.Gly394Asp) c.1277G>A (p.Gly426Asp) c.1328G>A (p.Gly443Asp) c.1232G>A (p.Gly411Asp) c.608G>A (p.Gly203Asp) c.1421G>A (p.Gly474Asp) c.1325G>A (p.Gly442Asp) c.8370+124027C>T (n.8370+124027C>T) | gnomAD v4 |
2 | g.108897074C>A | CA348048050 | EDAR,RANBP2 | c.1180G>T (p.Gly394Cys) c.1276G>T (p.Gly426Cys) c.1327G>T (p.Gly443Cys) c.1231G>T (p.Gly411Cys) c.607G>T (p.Gly203Cys) c.1420G>T (p.Gly474Cys) c.1324G>T (p.Gly442Cys) c.8370+124028C>A (n.8370+124028C>A) | |
2 | g.108897074C= | CA1278354260 | EDAR,RANBP2 | c.1180G= (p.Gly394=) c.1276G= (p.Gly426=) c.1327G= (p.Gly443=) c.1231G= (p.Gly411=) c.607G= (p.Gly203=) c.1420G= (p.Gly474=) c.1324G= (p.Gly442=) c.8370+124028C= (n.8370+124028C=) | |
2 | g.108897074C>G | CA348048051 | EDAR,RANBP2 | c.1180G>C (p.Gly394Arg) c.1276G>C (p.Gly426Arg) c.1327G>C (p.Gly443Arg) c.1231G>C (p.Gly411Arg) c.607G>C (p.Gly203Arg) c.1420G>C (p.Gly474Arg) c.1324G>C (p.Gly442Arg) c.8370+124028C>G (n.8370+124028C>G) | |
2 | g.108897074C>T | CA1824803 | EDAR,RANBP2 | c.1180G>A (p.Gly394Ser) c.1276G>A (p.Gly426Ser) c.1327G>A (p.Gly443Ser) c.1231G>A (p.Gly411Ser) c.607G>A (p.Gly203Ser) c.1420G>A (p.Gly474Ser) c.1324G>A (p.Gly442Ser) c.8370+124028C>T (n.8370+124028C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897075G>A | CA1824804 | EDAR,RANBP2 | c.1179C>T (p.Asp393=) c.1275C>T (p.Asp425=) c.1326C>T (p.Asp442=) c.1230C>T (p.Asp410=) c.606C>T (p.Asp202=) c.1419C>T (p.Asp473=) c.1323C>T (p.Asp441=) c.8370+124029G>A (n.8370+124029G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897075G>C | CA348048052 | EDAR,RANBP2 | c.1179C>G (p.Asp393Glu) c.1275C>G (p.Asp425Glu) c.1326C>G (p.Asp442Glu) c.1230C>G (p.Asp410Glu) c.606C>G (p.Asp202Glu) c.1419C>G (p.Asp473Glu) c.1323C>G (p.Asp441Glu) c.8370+124029G>C (n.8370+124029G>C) | |
2 | g.108897075G= | CA1278354261 | EDAR,RANBP2 | c.1179C= (p.Asp393=) c.1275C= (p.Asp425=) c.1326C= (p.Asp442=) c.1230C= (p.Asp410=) c.606C= (p.Asp202=) c.1419C= (p.Asp473=) c.1323C= (p.Asp441=) c.8370+124029G= (n.8370+124029G=) | |
2 | g.108897075G>T | CA348048053 | EDAR,RANBP2 | c.1179C>A (p.Asp393Glu) c.1275C>A (p.Asp425Glu) c.1326C>A (p.Asp442Glu) c.1230C>A (p.Asp410Glu) c.606C>A (p.Asp202Glu) c.1419C>A (p.Asp473Glu) c.1323C>A (p.Asp441Glu) c.8370+124029G>T (n.8370+124029G>T) | gnomAD v4 |
2 | g.108897076T>A | CA348048054 | EDAR,RANBP2 | c.1178A>T (p.Asp393Val) c.1274A>T (p.Asp425Val) c.1325A>T (p.Asp442Val) c.1229A>T (p.Asp410Val) c.605A>T (p.Asp202Val) c.1418A>T (p.Asp473Val) c.1322A>T (p.Asp441Val) c.8370+124030T>A (n.8370+124030T>A) | |
2 | g.108897076T>C | CA348048055 | EDAR,RANBP2 | c.1178A>G (p.Asp393Gly) c.1274A>G (p.Asp425Gly) c.1325A>G (p.Asp442Gly) c.1229A>G (p.Asp410Gly) c.605A>G (p.Asp202Gly) c.1418A>G (p.Asp473Gly) c.1322A>G (p.Asp441Gly) c.8370+124030T>C (n.8370+124030T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897076T>G | CA348048056 | EDAR,RANBP2 | c.1178A>C (p.Asp393Ala) c.1274A>C (p.Asp425Ala) c.1325A>C (p.Asp442Ala) c.1229A>C (p.Asp410Ala) c.605A>C (p.Asp202Ala) c.1418A>C (p.Asp473Ala) c.1322A>C (p.Asp441Ala) c.8370+124030T>G (n.8370+124030T>G) | |
2 | g.108897076T= | CA1278354262 | EDAR,RANBP2 | c.1178A= (p.Asp393=) c.1274A= (p.Asp425=) c.1325A= (p.Asp442=) c.1229A= (p.Asp410=) c.605A= (p.Asp202=) c.1418A= (p.Asp473=) c.1322A= (p.Asp441=) c.8370+124030T= (n.8370+124030T=) | |
2 | g.108897077_108897078dup | CA2577065494 | EDAR,RANBP2 | c.1177_1178dup (p.Asp393GlufsTer?) c.1273_1274dup (p.Asp425GlufsTer?) c.1324_1325dup (p.Asp442GlufsTer?) c.1228_1229dup (p.Asp410GlufsTer?) c.604_605dup (p.Asp202GlufsTer?) c.1417_1418dup (p.Asp473GlufsTer?) c.1321_1322dup (p.Asp441GlufsTer?) c.8370+124031_8370+124032dup (n.8370+124031_8370+124032dup) | |
2 | g.108897077C>A | CA348048057 | EDAR,RANBP2 | c.1177G>T (p.Asp393Tyr) c.1273G>T (p.Asp425Tyr) c.1324G>T (p.Asp442Tyr) c.1228G>T (p.Asp410Tyr) c.604G>T (p.Asp202Tyr) c.1417G>T (p.Asp473Tyr) c.1321G>T (p.Asp441Tyr) c.8370+124031C>A (n.8370+124031C>A) | |
2 | g.108897077C>G | CA348048058 | EDAR,RANBP2 | c.1177G>C (p.Asp393His) c.1273G>C (p.Asp425His) c.1324G>C (p.Asp442His) c.1228G>C (p.Asp410His) c.604G>C (p.Asp202His) c.1417G>C (p.Asp473His) c.1321G>C (p.Asp441His) c.8370+124031C>G (n.8370+124031C>G) | |
2 | g.108897077C>T | CA348048059 | EDAR,RANBP2 | c.1177G>A (p.Asp393Asn) c.1273G>A (p.Asp425Asn) c.1324G>A (p.Asp442Asn) c.1228G>A (p.Asp410Asn) c.604G>A (p.Asp202Asn) c.1417G>A (p.Asp473Asn) c.1321G>A (p.Asp441Asn) c.8370+124031C>T (n.8370+124031C>T) | |
2 | g.108897078T>A | CA428204109 | EDAR,RANBP2 | c.1176A>T (p.Thr392=) c.1272A>T (p.Thr424=) c.1323A>T (p.Thr441=) c.1227A>T (p.Thr409=) c.603A>T (p.Thr201=) c.1416A>T (p.Thr472=) c.1320A>T (p.Thr440=) c.8370+124032T>A (n.8370+124032T>A) | |
2 | g.108897078T>C | CA428204110 | EDAR,RANBP2 | c.1176A>G (p.Thr392=) c.1272A>G (p.Thr424=) c.1323A>G (p.Thr441=) c.1227A>G (p.Thr409=) c.603A>G (p.Thr201=) c.1416A>G (p.Thr472=) c.1320A>G (p.Thr440=) c.8370+124032T>C (n.8370+124032T>C) | |
2 | g.108897078T>G | CA428204111 | EDAR,RANBP2 | c.1176A>C (p.Thr392=) c.1272A>C (p.Thr424=) c.1323A>C (p.Thr441=) c.1227A>C (p.Thr409=) c.603A>C (p.Thr201=) c.1416A>C (p.Thr472=) c.1320A>C (p.Thr440=) c.8370+124032T>G (n.8370+124032T>G) | |
2 | g.108897079G>A | CA53464748 | EDAR,RANBP2 | c.1175C>T (p.Thr392Ile) c.1271C>T (p.Thr424Ile) c.1322C>T (p.Thr441Ile) c.1226C>T (p.Thr409Ile) c.602C>T (p.Thr201Ile) c.1415C>T (p.Thr472Ile) c.1319C>T (p.Thr440Ile) c.8370+124033G>A (n.8370+124033G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897079G>C | CA348048061 | EDAR,RANBP2 | c.1175C>G (p.Thr392Arg) c.1271C>G (p.Thr424Arg) c.1322C>G (p.Thr441Arg) c.1226C>G (p.Thr409Arg) c.602C>G (p.Thr201Arg) c.1415C>G (p.Thr472Arg) c.1319C>G (p.Thr440Arg) c.8370+124033G>C (n.8370+124033G>C) | gnomAD v4 |
2 | g.108897079G= | CA1278354263 | EDAR,RANBP2 | c.1175C= (p.Thr392=) c.1271C= (p.Thr424=) c.1322C= (p.Thr441=) c.1226C= (p.Thr409=) c.602C= (p.Thr201=) c.1415C= (p.Thr472=) c.1319C= (p.Thr440=) c.8370+124033G= (n.8370+124033G=) | |
2 | g.108897079G>T | CA348048060 | EDAR,RANBP2 | c.1175C>A (p.Thr392Lys) c.1271C>A (p.Thr424Lys) c.1322C>A (p.Thr441Lys) c.1226C>A (p.Thr409Lys) c.602C>A (p.Thr201Lys) c.1415C>A (p.Thr472Lys) c.1319C>A (p.Thr440Lys) c.8370+124033G>T (n.8370+124033G>T) | |
2 | g.108897080T>A | CA348048062 | EDAR,RANBP2 | c.1174A>T (p.Thr392Ser) c.1270A>T (p.Thr424Ser) c.1321A>T (p.Thr441Ser) c.1225A>T (p.Thr409Ser) c.601A>T (p.Thr201Ser) c.1414A>T (p.Thr472Ser) c.1318A>T (p.Thr440Ser) c.8370+124034T>A (n.8370+124034T>A) | |
2 | g.108897080T>C | CA348048063 | EDAR,RANBP2 | c.1174A>G (p.Thr392Ala) c.1270A>G (p.Thr424Ala) c.1321A>G (p.Thr441Ala) c.1225A>G (p.Thr409Ala) c.601A>G (p.Thr201Ala) c.1414A>G (p.Thr472Ala) c.1318A>G (p.Thr440Ala) c.8370+124034T>C (n.8370+124034T>C) | |
2 | g.108897080T>G | CA348048064 | EDAR,RANBP2 | c.1174A>C (p.Thr392Pro) c.1270A>C (p.Thr424Pro) c.1321A>C (p.Thr441Pro) c.1225A>C (p.Thr409Pro) c.601A>C (p.Thr201Pro) c.1414A>C (p.Thr472Pro) c.1318A>C (p.Thr440Pro) c.8370+124034T>G (n.8370+124034T>G) | |
2 | g.108897081C>A | CA348048065 | EDAR,RANBP2 | c.1173G>T (p.Met391Ile) c.1269G>T (p.Met423Ile) c.1320G>T (p.Met440Ile) c.1224G>T (p.Met408Ile) c.600G>T (p.Met200Ile) c.1413G>T (p.Met471Ile) c.1317G>T (p.Met439Ile) c.8370+124035C>A (n.8370+124035C>A) | |
2 | g.108897081C>G | CA348048066 | EDAR,RANBP2 | c.1173G>C (p.Met391Ile) c.1269G>C (p.Met423Ile) c.1320G>C (p.Met440Ile) c.1224G>C (p.Met408Ile) c.600G>C (p.Met200Ile) c.1413G>C (p.Met471Ile) c.1317G>C (p.Met439Ile) c.8370+124035C>G (n.8370+124035C>G) | |
2 | g.108897081C>T | CA348048067 | EDAR,RANBP2 | c.1173G>A (p.Met391Ile) c.1269G>A (p.Met423Ile) c.1320G>A (p.Met440Ile) c.1224G>A (p.Met408Ile) c.600G>A (p.Met200Ile) c.1413G>A (p.Met471Ile) c.1317G>A (p.Met439Ile) c.8370+124035C>T (n.8370+124035C>T) | gnomAD v4 |
2 | g.108897082A>C | CA348048068 | EDAR,RANBP2 | c.1172T>G (p.Met391Arg) c.1268T>G (p.Met423Arg) c.1319T>G (p.Met440Arg) c.1223T>G (p.Met408Arg) c.599T>G (p.Met200Arg) c.1412T>G (p.Met471Arg) c.1316T>G (p.Met439Arg) c.8370+124036A>C (n.8370+124036A>C) | |
2 | g.108897082A>G | CA348048069 | EDAR,RANBP2 | c.1172T>C (p.Met391Thr) c.1268T>C (p.Met423Thr) c.1319T>C (p.Met440Thr) c.1223T>C (p.Met408Thr) c.599T>C (p.Met200Thr) c.1412T>C (p.Met471Thr) c.1316T>C (p.Met439Thr) c.8370+124036A>G (n.8370+124036A>G) | gnomAD v4 COSMIC COSMIC |
2 | g.108897082A>T | CA348048070 | EDAR,RANBP2 | c.1172T>A (p.Met391Lys) c.1268T>A (p.Met423Lys) c.1319T>A (p.Met440Lys) c.1223T>A (p.Met408Lys) c.599T>A (p.Met200Lys) c.1412T>A (p.Met471Lys) c.1316T>A (p.Met439Lys) c.8370+124036A>T (n.8370+124036A>T) | gnomAD v4 |
2 | g.108897083T>A | CA348048073 | EDAR,RANBP2 | c.1171A>T (p.Met391Leu) c.1267A>T (p.Met423Leu) c.1318A>T (p.Met440Leu) c.1222A>T (p.Met408Leu) c.598A>T (p.Met200Leu) c.1411A>T (p.Met471Leu) c.1315A>T (p.Met439Leu) c.8370+124037T>A (n.8370+124037T>A) | |
2 | g.108897083T>C | CA348048072 | EDAR,RANBP2 | c.1171A>G (p.Met391Val) c.1267A>G (p.Met423Val) c.1318A>G (p.Met440Val) c.1222A>G (p.Met408Val) c.598A>G (p.Met200Val) c.1411A>G (p.Met471Val) c.1315A>G (p.Met439Val) c.8370+124037T>C (n.8370+124037T>C) | |
2 | g.108897083T>G | CA348048071 | EDAR,RANBP2 | c.1171A>C (p.Met391Leu) c.1267A>C (p.Met423Leu) c.1318A>C (p.Met440Leu) c.1222A>C (p.Met408Leu) c.598A>C (p.Met200Leu) c.1411A>C (p.Met471Leu) c.1315A>C (p.Met439Leu) c.8370+124037T>G (n.8370+124037T>G) | |
2 | g.108897084G>A | CA428204117 | EDAR,RANBP2 | c.1170C>T (p.Gly390=) c.1266C>T (p.Gly422=) c.1317C>T (p.Gly439=) c.1221C>T (p.Gly407=) c.597C>T (p.Gly199=) c.1410C>T (p.Gly470=) c.1314C>T (p.Gly438=) c.8370+124038G>A (n.8370+124038G>A) | gnomAD v4 |
2 | g.108897084G>C | CA428204118 | EDAR,RANBP2 | c.1170C>G (p.Gly390=) c.1266C>G (p.Gly422=) c.1317C>G (p.Gly439=) c.1221C>G (p.Gly407=) c.597C>G (p.Gly199=) c.1410C>G (p.Gly470=) c.1314C>G (p.Gly438=) c.8370+124038G>C (n.8370+124038G>C) | |
2 | g.108897084G>T | CA428204119 | EDAR,RANBP2 | c.1170C>A (p.Gly390=) c.1266C>A (p.Gly422=) c.1317C>A (p.Gly439=) c.1221C>A (p.Gly407=) c.597C>A (p.Gly199=) c.1410C>A (p.Gly470=) c.1314C>A (p.Gly438=) c.8370+124038G>T (n.8370+124038G>T) | dbSNP gnomAD v4 |
2 | g.108897084_108897085delinsGC | CA1278354264 | EDAR,RANBP2 | c.1169_1170delinsGC (p.Gly390=) c.1265_1266delinsGC (p.Gly422=) c.1316_1317delinsGC (p.Gly439=) c.1220_1221delinsGC (p.Gly407=) c.596_597delinsGC (p.Gly199=) c.1409_1410delinsGC (p.Gly470=) c.1313_1314delinsGC (p.Gly438=) c.8370+124038_8370+124039delinsGC (n.8370+124038_8370+124039delinsGC) | |
2 | g.108897085C>A | CA348048074 | EDAR,RANBP2 | c.1169G>T (p.Gly390Val) c.1265G>T (p.Gly422Val) c.1316G>T (p.Gly439Val) c.1220G>T (p.Gly407Val) c.596G>T (p.Gly199Val) c.1409G>T (p.Gly470Val) c.1313G>T (p.Gly438Val) c.8370+124039C>A (n.8370+124039C>A) | |
2 | g.108897085C= | CA1278354265 | EDAR,RANBP2 | c.1169G= (p.Gly390=) c.1265G= (p.Gly422=) c.1316G= (p.Gly439=) c.1220G= (p.Gly407=) c.596G= (p.Gly199=) c.1409G= (p.Gly470=) c.1313G= (p.Gly438=) c.8370+124039C= (n.8370+124039C=) | |
2 | g.108897085C>G | CA348048075 | EDAR,RANBP2 | c.1169G>C (p.Gly390Ala) c.1265G>C (p.Gly422Ala) c.1316G>C (p.Gly439Ala) c.1220G>C (p.Gly407Ala) c.596G>C (p.Gly199Ala) c.1409G>C (p.Gly470Ala) c.1313G>C (p.Gly438Ala) c.8370+124039C>G (n.8370+124039C>G) | |
2 | g.108897085C>T | CA348048076 | EDAR,RANBP2 | c.1169G>A (p.Gly390Asp) c.1265G>A (p.Gly422Asp) c.1316G>A (p.Gly439Asp) c.1220G>A (p.Gly407Asp) c.596G>A (p.Gly199Asp) c.1409G>A (p.Gly470Asp) c.1313G>A (p.Gly438Asp) c.8370+124039C>T (n.8370+124039C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897089dup | CA891842934 | EDAR,RANBP2 | c.1169dup (p.Met391HisfsTer9) c.1265dup (p.Met423HisfsTer9) c.1316dup (p.Met440HisfsTer9) c.1220dup (p.Met408HisfsTer9) c.596dup (p.Met200HisfsTer9) c.1409dup (p.Met471HisfsTer9) c.1313dup (p.Met439HisfsTer9) c.8370+124043dup (n.8370+124043dup) | ClinVar dbSNP |
2 | g.108897089del | CA916082193 | EDAR,RANBP2 | c.1169del (p.Gly390AlafsTer2) c.1265del (p.Gly422AlafsTer2) c.1316del (p.Gly439AlafsTer2) c.1220del (p.Gly407AlafsTer2) c.596del (p.Gly199AlafsTer2) c.1409del (p.Gly470AlafsTer2) c.1313del (p.Gly438AlafsTer2) c.8370+124043del (n.8370+124043del) | ClinVar dbSNP |
2 | g.108897086C>A | CA348048077 | EDAR,RANBP2 | c.1168G>T (p.Gly390Cys) c.1264G>T (p.Gly422Cys) c.1315G>T (p.Gly439Cys) c.1219G>T (p.Gly407Cys) c.595G>T (p.Gly199Cys) c.1408G>T (p.Gly470Cys) c.1312G>T (p.Gly438Cys) c.8370+124040C>A (n.8370+124040C>A) | |
2 | g.108897086C= | CA1278354266 | EDAR,RANBP2 | c.1168G= (p.Gly390=) c.1264G= (p.Gly422=) c.1315G= (p.Gly439=) c.1219G= (p.Gly407=) c.595G= (p.Gly199=) c.1408G= (p.Gly470=) c.1312G= (p.Gly438=) c.8370+124040C= (n.8370+124040C=) | |
2 | g.108897086C>G | CA348048078 | EDAR,RANBP2 | c.1168G>C (p.Gly390Arg) c.1264G>C (p.Gly422Arg) c.1315G>C (p.Gly439Arg) c.1219G>C (p.Gly407Arg) c.595G>C (p.Gly199Arg) c.1408G>C (p.Gly470Arg) c.1312G>C (p.Gly438Arg) c.8370+124040C>G (n.8370+124040C>G) | |
2 | g.108897086C>T | CA348048079 | EDAR,RANBP2 | c.1168G>A (p.Gly390Ser) c.1264G>A (p.Gly422Ser) c.1315G>A (p.Gly439Ser) c.1219G>A (p.Gly407Ser) c.595G>A (p.Gly199Ser) c.1408G>A (p.Gly470Ser) c.1312G>A (p.Gly438Ser) c.8370+124040C>T (n.8370+124040C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108897087C>A | CA428204120 | EDAR,RANBP2 | c.1167G>T (p.Gly389=) c.1263G>T (p.Gly421=) c.1314G>T (p.Gly438=) c.1218G>T (p.Gly406=) c.594G>T (p.Gly198=) c.1407G>T (p.Gly469=) c.1311G>T (p.Gly437=) c.8370+124041C>A (n.8370+124041C>A) | |
2 | g.108897087C= | CA1278354267 | EDAR,RANBP2 | c.1167G= (p.Gly389=) c.1263G= (p.Gly421=) c.1314G= (p.Gly438=) c.1218G= (p.Gly406=) c.594G= (p.Gly198=) c.1407G= (p.Gly469=) c.1311G= (p.Gly437=) c.8370+124041C= (n.8370+124041C=) | |
2 | g.108897087C>G | CA428204121 | EDAR,RANBP2 | c.1167G>C (p.Gly389=) c.1263G>C (p.Gly421=) c.1314G>C (p.Gly438=) c.1218G>C (p.Gly406=) c.594G>C (p.Gly198=) c.1407G>C (p.Gly469=) c.1311G>C (p.Gly437=) c.8370+124041C>G (n.8370+124041C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897087C>T | CA428204122 | EDAR,RANBP2 | c.1167G>A (p.Gly389=) c.1263G>A (p.Gly421=) c.1314G>A (p.Gly438=) c.1218G>A (p.Gly406=) c.594G>A (p.Gly198=) c.1407G>A (p.Gly469=) c.1311G>A (p.Gly437=) c.8370+124041C>T (n.8370+124041C>T) | |
2 | g.108897088C>A | CA348048080 | EDAR,RANBP2 | c.1166G>T (p.Gly389Val) c.1262G>T (p.Gly421Val) c.1313G>T (p.Gly438Val) c.1217G>T (p.Gly406Val) c.593G>T (p.Gly198Val) c.1406G>T (p.Gly469Val) c.1310G>T (p.Gly437Val) c.8370+124042C>A (n.8370+124042C>A) | |
2 | g.108897088C= | CA1278354268 | EDAR,RANBP2 | c.1166G= (p.Gly389=) c.1262G= (p.Gly421=) c.1313G= (p.Gly438=) c.1217G= (p.Gly406=) c.593G= (p.Gly198=) c.1406G= (p.Gly469=) c.1310G= (p.Gly437=) c.8370+124042C= (n.8370+124042C=) | |
2 | g.108897088C>G | CA1824805 | EDAR,RANBP2 | c.1166G>C (p.Gly389Ala) c.1262G>C (p.Gly421Ala) c.1313G>C (p.Gly438Ala) c.1217G>C (p.Gly406Ala) c.593G>C (p.Gly198Ala) c.1406G>C (p.Gly469Ala) c.1310G>C (p.Gly437Ala) c.8370+124042C>G (n.8370+124042C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108897088C>T | CA348048081 | EDAR,RANBP2 | c.1166G>A (p.Gly389Glu) c.1262G>A (p.Gly421Glu) c.1313G>A (p.Gly438Glu) c.1217G>A (p.Gly406Glu) c.593G>A (p.Gly198Glu) c.1406G>A (p.Gly469Glu) c.1310G>A (p.Gly437Glu) c.8370+124042C>T (n.8370+124042C>T) | |
2 | g.108897089C>A | CA348048082 | EDAR,RANBP2 | c.1165G>T (p.Gly389Trp) c.1261G>T (p.Gly421Trp) c.1312G>T (p.Gly438Trp) c.1216G>T (p.Gly406Trp) c.592G>T (p.Gly198Trp) c.1405G>T (p.Gly469Trp) c.1309G>T (p.Gly437Trp) c.8370+124043C>A (n.8370+124043C>A) | |
2 | g.108897089C= | CA1278354269 | EDAR,RANBP2 | c.1165G= (p.Gly389=) c.1261G= (p.Gly421=) c.1312G= (p.Gly438=) c.1216G= (p.Gly406=) c.592G= (p.Gly198=) c.1405G= (p.Gly469=) c.1309G= (p.Gly437=) c.8370+124043C= (n.8370+124043C=) | |
2 | g.108897089C>G | CA348048083 | EDAR,RANBP2 | c.1165G>C (p.Gly389Arg) c.1261G>C (p.Gly421Arg) c.1312G>C (p.Gly438Arg) c.1216G>C (p.Gly406Arg) c.592G>C (p.Gly198Arg) c.1405G>C (p.Gly469Arg) c.1309G>C (p.Gly437Arg) c.8370+124043C>G (n.8370+124043C>G) | |
2 | g.108897089C>T | CA1824806 | EDAR,RANBP2 | c.1165G>A (p.Gly389Arg) c.1261G>A (p.Gly421Arg) c.1312G>A (p.Gly438Arg) c.1216G>A (p.Gly406Arg) c.592G>A (p.Gly198Arg) c.1405G>A (p.Gly469Arg) c.1309G>A (p.Gly437Arg) c.8370+124043C>T (n.8370+124043C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897090A>C | CA348048084 | EDAR,RANBP2 | c.1164T>G (p.Ile388Met) c.1260T>G (p.Ile420Met) c.1311T>G (p.Ile437Met) c.1215T>G (p.Ile405Met) c.591T>G (p.Ile197Met) c.1404T>G (p.Ile468Met) c.1308T>G (p.Ile436Met) c.8370+124044A>C (n.8370+124044A>C) | |
2 | g.108897090A>G | CA428204127 | EDAR,RANBP2 | c.1164T>C (p.Ile388=) c.1260T>C (p.Ile420=) c.1311T>C (p.Ile437=) c.1215T>C (p.Ile405=) c.591T>C (p.Ile197=) c.1404T>C (p.Ile468=) c.1308T>C (p.Ile436=) c.8370+124044A>G (n.8370+124044A>G) | |
2 | g.108897090A>T | CA428204128 | EDAR,RANBP2 | c.1164T>A (p.Ile388=) c.1260T>A (p.Ile420=) c.1311T>A (p.Ile437=) c.1215T>A (p.Ile405=) c.591T>A (p.Ile197=) c.1404T>A (p.Ile468=) c.1308T>A (p.Ile436=) c.8370+124044A>T (n.8370+124044A>T) | |
2 | g.108897091A= | CA1278354270 | EDAR,RANBP2 | c.1163T= (p.Ile388=) c.1259T= (p.Ile420=) c.1310T= (p.Ile437=) c.1214T= (p.Ile405=) c.590T= (p.Ile197=) c.1403T= (p.Ile468=) c.1307T= (p.Ile436=) c.8370+124045A= (n.8370+124045A=) | |
2 | g.108897091A>C | CA348048085 | EDAR,RANBP2 | c.1163T>G (p.Ile388Ser) c.1259T>G (p.Ile420Ser) c.1310T>G (p.Ile437Ser) c.1214T>G (p.Ile405Ser) c.590T>G (p.Ile197Ser) c.1403T>G (p.Ile468Ser) c.1307T>G (p.Ile436Ser) c.8370+124045A>C (n.8370+124045A>C) | |
2 | g.108897091A>G | CA53464780 | EDAR,RANBP2 | c.1163T>C (p.Ile388Thr) c.1259T>C (p.Ile420Thr) c.1310T>C (p.Ile437Thr) c.1214T>C (p.Ile405Thr) c.590T>C (p.Ile197Thr) c.1403T>C (p.Ile468Thr) c.1307T>C (p.Ile436Thr) c.8370+124045A>G (n.8370+124045A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897091A>T | CA348048086 | EDAR,RANBP2 | c.1163T>A (p.Ile388Asn) c.1259T>A (p.Ile420Asn) c.1310T>A (p.Ile437Asn) c.1214T>A (p.Ile405Asn) c.590T>A (p.Ile197Asn) c.1403T>A (p.Ile468Asn) c.1307T>A (p.Ile436Asn) c.8370+124045A>T (n.8370+124045A>T) | |
2 | g.108897092T>A | CA348048087 | EDAR,RANBP2 | c.1162A>T (p.Ile388Phe) c.1258A>T (p.Ile420Phe) c.1309A>T (p.Ile437Phe) c.1213A>T (p.Ile405Phe) c.589A>T (p.Ile197Phe) c.1402A>T (p.Ile468Phe) c.1306A>T (p.Ile436Phe) c.8370+124046T>A (n.8370+124046T>A) | |
2 | g.108897092T>C | CA348048088 | EDAR,RANBP2 | c.1162A>G (p.Ile388Val) c.1258A>G (p.Ile420Val) c.1309A>G (p.Ile437Val) c.1213A>G (p.Ile405Val) c.589A>G (p.Ile197Val) c.1402A>G (p.Ile468Val) c.1306A>G (p.Ile436Val) c.8370+124046T>C (n.8370+124046T>C) | dbSNP gnomAD v4 |
2 | g.108897092T>G | CA348048089 | EDAR,RANBP2 | c.1162A>C (p.Ile388Leu) c.1258A>C (p.Ile420Leu) c.1309A>C (p.Ile437Leu) c.1213A>C (p.Ile405Leu) c.589A>C (p.Ile197Leu) c.1402A>C (p.Ile468Leu) c.1306A>C (p.Ile436Leu) c.8370+124046T>G (n.8370+124046T>G) | gnomAD v4 |
2 | g.108897093C>A | CA348048090 | EDAR,RANBP2 | c.1161G>T (p.Glu387Asp) c.1257G>T (p.Glu419Asp) c.1308G>T (p.Glu436Asp) c.1212G>T (p.Glu404Asp) c.588G>T (p.Glu196Asp) c.1401G>T (p.Glu467Asp) c.1305G>T (p.Glu435Asp) c.8370+124047C>A (n.8370+124047C>A) | COSMIC COSMIC |
2 | g.108897093C>G | CA348048091 | EDAR,RANBP2 | c.1161G>C (p.Glu387Asp) c.1257G>C (p.Glu419Asp) c.1308G>C (p.Glu436Asp) c.1212G>C (p.Glu404Asp) c.588G>C (p.Glu196Asp) c.1401G>C (p.Glu467Asp) c.1305G>C (p.Glu435Asp) c.8370+124047C>G (n.8370+124047C>G) | |
2 | g.108897093C>T | CA428204129 | EDAR,RANBP2 | c.1161G>A (p.Glu387=) c.1257G>A (p.Glu419=) c.1308G>A (p.Glu436=) c.1212G>A (p.Glu404=) c.588G>A (p.Glu196=) c.1401G>A (p.Glu467=) c.1305G>A (p.Glu435=) c.8370+124047C>T (n.8370+124047C>T) | COSMIC COSMIC |
2 | g.108897094T>A | CA348048092 | EDAR,RANBP2 | c.1160A>T (p.Glu387Val) c.1256A>T (p.Glu419Val) c.1307A>T (p.Glu436Val) c.1211A>T (p.Glu404Val) c.587A>T (p.Glu196Val) c.1400A>T (p.Glu467Val) c.1304A>T (p.Glu435Val) c.8370+124048T>A (n.8370+124048T>A) | |
2 | g.108897094T>C | CA348048093 | EDAR,RANBP2 | c.1160A>G (p.Glu387Gly) c.1256A>G (p.Glu419Gly) c.1307A>G (p.Glu436Gly) c.1211A>G (p.Glu404Gly) c.587A>G (p.Glu196Gly) c.1400A>G (p.Glu467Gly) c.1304A>G (p.Glu435Gly) c.8370+124048T>C (n.8370+124048T>C) | |
2 | g.108897094T>G | CA348048094 | EDAR,RANBP2 | c.1160A>C (p.Glu387Ala) c.1256A>C (p.Glu419Ala) c.1307A>C (p.Glu436Ala) c.1211A>C (p.Glu404Ala) c.587A>C (p.Glu196Ala) c.1400A>C (p.Glu467Ala) c.1304A>C (p.Glu435Ala) c.8370+124048T>G (n.8370+124048T>G) | |
2 | g.108897095C>A | CA348048095 | EDAR,RANBP2 | c.1159G>T (p.Glu387Ter) c.1255G>T (p.Glu419Ter) c.1306G>T (p.Glu436Ter) c.1210G>T (p.Glu404Ter) c.586G>T (p.Glu196Ter) c.1399G>T (p.Glu467Ter) c.1303G>T (p.Glu435Ter) c.8370+124049C>A (n.8370+124049C>A) | |
2 | g.108897095C>G | CA348048096 | EDAR,RANBP2 | c.1159G>C (p.Glu387Gln) c.1255G>C (p.Glu419Gln) c.1306G>C (p.Glu436Gln) c.1210G>C (p.Glu404Gln) c.586G>C (p.Glu196Gln) c.1399G>C (p.Glu467Gln) c.1303G>C (p.Glu435Gln) c.8370+124049C>G (n.8370+124049C>G) | |
2 | g.108897095C>T | CA348048097 | EDAR,RANBP2 | c.1159G>A (p.Glu387Lys) c.1255G>A (p.Glu419Lys) c.1306G>A (p.Glu436Lys) c.1210G>A (p.Glu404Lys) c.586G>A (p.Glu196Lys) c.1399G>A (p.Glu467Lys) c.1303G>A (p.Glu435Lys) c.8370+124049C>T (n.8370+124049C>T) | |
2 | g.108897096A>C | CA348048099 | EDAR,RANBP2 | c.1158T>G (p.Asp386Glu) c.1254T>G (p.Asp418Glu) c.1305T>G (p.Asp435Glu) c.1209T>G (p.Asp403Glu) c.585T>G (p.Asp195Glu) c.1398T>G (p.Asp466Glu) c.1302T>G (p.Asp434Glu) c.8370+124050A>C (n.8370+124050A>C) | |
2 | g.108897096A>G | CA428204130 | EDAR,RANBP2 | c.1158T>C (p.Asp386=) c.1254T>C (p.Asp418=) c.1305T>C (p.Asp435=) c.1209T>C (p.Asp403=) c.585T>C (p.Asp195=) c.1398T>C (p.Asp466=) c.1302T>C (p.Asp434=) c.8370+124050A>G (n.8370+124050A>G) | |
2 | g.108897096A>T | CA348048098 | EDAR,RANBP2 | c.1158T>A (p.Asp386Glu) c.1254T>A (p.Asp418Glu) c.1305T>A (p.Asp435Glu) c.1209T>A (p.Asp403Glu) c.585T>A (p.Asp195Glu) c.1398T>A (p.Asp466Glu) c.1302T>A (p.Asp434Glu) c.8370+124050A>T (n.8370+124050A>T) | |
2 | g.108897097T>A | CA348048100 | EDAR,RANBP2 | c.1157A>T (p.Asp386Val) c.1253A>T (p.Asp418Val) c.1304A>T (p.Asp435Val) c.1208A>T (p.Asp403Val) c.584A>T (p.Asp195Val) c.1397A>T (p.Asp466Val) c.1301A>T (p.Asp434Val) c.8370+124051T>A (n.8370+124051T>A) | |
2 | g.108897097T>C | CA1824807 | EDAR,RANBP2 | c.1157A>G (p.Asp386Gly) c.1253A>G (p.Asp418Gly) c.1304A>G (p.Asp435Gly) c.1208A>G (p.Asp403Gly) c.584A>G (p.Asp195Gly) c.1397A>G (p.Asp466Gly) c.1301A>G (p.Asp434Gly) c.8370+124051T>C (n.8370+124051T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108897097T>G | CA348048101 | EDAR,RANBP2 | c.1157A>C (p.Asp386Ala) c.1253A>C (p.Asp418Ala) c.1304A>C (p.Asp435Ala) c.1208A>C (p.Asp403Ala) c.584A>C (p.Asp195Ala) c.1397A>C (p.Asp466Ala) c.1301A>C (p.Asp434Ala) c.8370+124051T>G (n.8370+124051T>G) | gnomAD v4 |
2 | g.108897097T= | CA1278354271 | EDAR,RANBP2 | c.1157A= (p.Asp386=) c.1253A= (p.Asp418=) c.1304A= (p.Asp435=) c.1208A= (p.Asp403=) c.584A= (p.Asp195=) c.1397A= (p.Asp466=) c.1301A= (p.Asp434=) c.8370+124051T= (n.8370+124051T=) | |
2 | g.108897098C>A | CA348048102 | EDAR,RANBP2 | c.1156G>T (p.Asp386Tyr) c.1252G>T (p.Asp418Tyr) c.1303G>T (p.Asp435Tyr) c.1207G>T (p.Asp403Tyr) c.583G>T (p.Asp195Tyr) c.1396G>T (p.Asp466Tyr) c.1300G>T (p.Asp434Tyr) c.8370+124052C>A (n.8370+124052C>A) | gnomAD v4 |
2 | g.108897098C= | CA1278354272 | EDAR,RANBP2 | c.1156G= (p.Asp386=) c.1252G= (p.Asp418=) c.1303G= (p.Asp435=) c.1207G= (p.Asp403=) c.583G= (p.Asp195=) c.1396G= (p.Asp466=) c.1300G= (p.Asp434=) c.8370+124052C= (n.8370+124052C=) | |
2 | g.108897098C>G | CA348048103 | EDAR,RANBP2 | c.1156G>C (p.Asp386His) c.1252G>C (p.Asp418His) c.1303G>C (p.Asp435His) c.1207G>C (p.Asp403His) c.583G>C (p.Asp195His) c.1396G>C (p.Asp466His) c.1300G>C (p.Asp434His) c.8370+124052C>G (n.8370+124052C>G) | COSMIC COSMIC |
2 | g.108897098C>T | CA1824808 | EDAR,RANBP2 | c.1156G>A (p.Asp386Asn) c.1252G>A (p.Asp418Asn) c.1303G>A (p.Asp435Asn) c.1207G>A (p.Asp403Asn) c.583G>A (p.Asp195Asn) c.1396G>A (p.Asp466Asn) c.1300G>A (p.Asp434Asn) c.8370+124052C>T (n.8370+124052C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897099C>A | CA348048104 | EDAR,RANBP2 | c.1155G>T (p.Arg385Ser) c.1251G>T (p.Arg417Ser) c.1302G>T (p.Arg434Ser) c.1206G>T (p.Arg402Ser) c.582G>T (p.Arg194Ser) c.1395G>T (p.Arg465Ser) c.1299G>T (p.Arg433Ser) c.8370+124053C>A (n.8370+124053C>A) | gnomAD v4 |
2 | g.108897099C>G | CA348048105 | EDAR,RANBP2 | c.1155G>C (p.Arg385Ser) c.1251G>C (p.Arg417Ser) c.1302G>C (p.Arg434Ser) c.1206G>C (p.Arg402Ser) c.582G>C (p.Arg194Ser) c.1395G>C (p.Arg465Ser) c.1299G>C (p.Arg433Ser) c.8370+124053C>G (n.8370+124053C>G) | |
2 | g.108897099C>T | CA428204132 | EDAR,RANBP2 | c.1155G>A (p.Arg385=) c.1251G>A (p.Arg417=) c.1302G>A (p.Arg434=) c.1206G>A (p.Arg402=) c.582G>A (p.Arg194=) c.1395G>A (p.Arg465=) c.1299G>A (p.Arg433=) c.8370+124053C>T (n.8370+124053C>T) | gnomAD v4 COSMIC COSMIC |
2 | g.108897100C>A | CA348048106 | EDAR,RANBP2 | c.1154G>T (p.Arg385Met) c.1250G>T (p.Arg417Met) c.1301G>T (p.Arg434Met) c.1205G>T (p.Arg402Met) c.581G>T (p.Arg194Met) c.1394G>T (p.Arg465Met) c.1298G>T (p.Arg433Met) c.8370+124054C>A (n.8370+124054C>A) | |
2 | g.108897100C= | CA1278354273 | EDAR,RANBP2 | c.1154G= (p.Arg385=) c.1250G= (p.Arg417=) c.1301G= (p.Arg434=) c.1205G= (p.Arg402=) c.581G= (p.Arg194=) c.1394G= (p.Arg465=) c.1298G= (p.Arg433=) c.8370+124054C= (n.8370+124054C=) | |
2 | g.108897100C>G | CA348048107 | EDAR,RANBP2 | c.1154G>C (p.Arg385Thr) c.1250G>C (p.Arg417Thr) c.1301G>C (p.Arg434Thr) c.1205G>C (p.Arg402Thr) c.581G>C (p.Arg194Thr) c.1394G>C (p.Arg465Thr) c.1298G>C (p.Arg433Thr) c.8370+124054C>G (n.8370+124054C>G) | |
2 | g.108897100C>T | CA348048108 | EDAR,RANBP2 | c.1154G>A (p.Arg385Lys) c.1250G>A (p.Arg417Lys) c.1301G>A (p.Arg434Lys) c.1205G>A (p.Arg402Lys) c.581G>A (p.Arg194Lys) c.1394G>A (p.Arg465Lys) c.1298G>A (p.Arg433Lys) c.8370+124054C>T (n.8370+124054C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897100_108897103dup | CA2580611685 | EDAR,RANBP2 | c.1151_1154dup (p.Asp386GlufsTer3) c.1247_1250dup (p.Asp418GlufsTer3) c.1298_1301dup (p.Asp435GlufsTer3) c.1202_1205dup (p.Asp403GlufsTer3) c.578_581dup (p.Asp195GlufsTer3) c.1391_1394dup (p.Asp466GlufsTer3) c.1295_1298dup (p.Asp434GlufsTer3) c.8370+124054_8370+124057dup (n.8370+124054_8370+124057dup) | ClinVar dbSNP |
2 | g.108897101T>A | CA348048109 | EDAR,RANBP2 | c.1153A>T (p.Arg385Trp) c.1249A>T (p.Arg417Trp) c.1300A>T (p.Arg434Trp) c.1204A>T (p.Arg402Trp) c.580A>T (p.Arg194Trp) c.1393A>T (p.Arg465Trp) c.1297A>T (p.Arg433Trp) c.8370+124055T>A (n.8370+124055T>A) | |
2 | g.108897101T>C | CA348048110 | EDAR,RANBP2 | c.1153A>G (p.Arg385Gly) c.1249A>G (p.Arg417Gly) c.1300A>G (p.Arg434Gly) c.1204A>G (p.Arg402Gly) c.580A>G (p.Arg194Gly) c.1393A>G (p.Arg465Gly) c.1297A>G (p.Arg433Gly) c.8370+124055T>C (n.8370+124055T>C) | gnomAD v4 |
2 | g.108897101T>G | CA428204133 | EDAR,RANBP2 | c.1153A>C (p.Arg385=) c.1249A>C (p.Arg417=) c.1300A>C (p.Arg434=) c.1204A>C (p.Arg402=) c.580A>C (p.Arg194=) c.1393A>C (p.Arg465=) c.1297A>C (p.Arg433=) c.8370+124055T>G (n.8370+124055T>G) | |
2 | g.108897102C>A | CA348048111 | EDAR,RANBP2 | c.1152G>T (p.Lys384Asn) c.1248G>T (p.Lys416Asn) c.1299G>T (p.Lys433Asn) c.1203G>T (p.Lys401Asn) c.579G>T (p.Lys193Asn) c.1392G>T (p.Lys464Asn) c.1296G>T (p.Lys432Asn) c.8370+124056C>A (n.8370+124056C>A) | |
2 | g.108897102C= | CA1278354274 | EDAR,RANBP2 | c.1152G= (p.Lys384=) c.1248G= (p.Lys416=) c.1299G= (p.Lys433=) c.1203G= (p.Lys401=) c.579G= (p.Lys193=) c.1392G= (p.Lys464=) c.1296G= (p.Lys432=) c.8370+124056C= (n.8370+124056C=) | |
2 | g.108897102C>G | CA348048112 | EDAR,RANBP2 | c.1152G>C (p.Lys384Asn) c.1248G>C (p.Lys416Asn) c.1299G>C (p.Lys433Asn) c.1203G>C (p.Lys401Asn) c.579G>C (p.Lys193Asn) c.1392G>C (p.Lys464Asn) c.1296G>C (p.Lys432Asn) c.8370+124056C>G (n.8370+124056C>G) | |
2 | g.108897102C>T | CA428204134 | EDAR,RANBP2 | c.1152G>A (p.Lys384=) c.1248G>A (p.Lys416=) c.1299G>A (p.Lys433=) c.1203G>A (p.Lys401=) c.579G>A (p.Lys193=) c.1392G>A (p.Lys464=) c.1296G>A (p.Lys432=) c.8370+124056C>T (n.8370+124056C>T) | dbSNP |
2 | g.108897103T>A | CA348048115 | EDAR,RANBP2 | c.1151A>T (p.Lys384Met) c.1247A>T (p.Lys416Met) c.1298A>T (p.Lys433Met) c.1202A>T (p.Lys401Met) c.578A>T (p.Lys193Met) c.1391A>T (p.Lys464Met) c.1295A>T (p.Lys432Met) c.8370+124057T>A (n.8370+124057T>A) | |
2 | g.108897103T>C | CA348048113 | EDAR,RANBP2 | c.1151A>G (p.Lys384Arg) c.1247A>G (p.Lys416Arg) c.1298A>G (p.Lys433Arg) c.1202A>G (p.Lys401Arg) c.578A>G (p.Lys193Arg) c.1391A>G (p.Lys464Arg) c.1295A>G (p.Lys432Arg) c.8370+124057T>C (n.8370+124057T>C) | |
2 | g.108897103T>G | CA348048114 | EDAR,RANBP2 | c.1151A>C (p.Lys384Thr) c.1247A>C (p.Lys416Thr) c.1298A>C (p.Lys433Thr) c.1202A>C (p.Lys401Thr) c.578A>C (p.Lys193Thr) c.1391A>C (p.Lys464Thr) c.1295A>C (p.Lys432Thr) c.8370+124057T>G (n.8370+124057T>G) | |
2 | g.108897104T>A | CA348048116 | EDAR,RANBP2 | c.1150A>T (p.Lys384Ter) c.1246A>T (p.Lys416Ter) c.1297A>T (p.Lys433Ter) c.1201A>T (p.Lys401Ter) c.577A>T (p.Lys193Ter) c.1390A>T (p.Lys464Ter) c.1294A>T (p.Lys432Ter) c.8370+124058T>A (n.8370+124058T>A) | |
2 | g.108897104T>C | CA348048117 | EDAR,RANBP2 | c.1150A>G (p.Lys384Glu) c.1246A>G (p.Lys416Glu) c.1297A>G (p.Lys433Glu) c.1201A>G (p.Lys401Glu) c.577A>G (p.Lys193Glu) c.1390A>G (p.Lys464Glu) c.1294A>G (p.Lys432Glu) c.8370+124058T>C (n.8370+124058T>C) | |
2 | g.108897104T>G | CA348048118 | EDAR,RANBP2 | c.1150A>C (p.Lys384Gln) c.1246A>C (p.Lys416Gln) c.1297A>C (p.Lys433Gln) c.1201A>C (p.Lys401Gln) c.577A>C (p.Lys193Gln) c.1390A>C (p.Lys464Gln) c.1294A>C (p.Lys432Gln) c.8370+124058T>G (n.8370+124058T>G) | |
2 | g.108897105C>A | CA428204135 | EDAR,RANBP2 | c.1149G>T (p.Leu383=) c.1245G>T (p.Leu415=) c.1296G>T (p.Leu432=) c.1200G>T (p.Leu400=) c.576G>T (p.Leu192=) c.1389G>T (p.Leu463=) c.1293G>T (p.Leu431=) c.8370+124059C>A (n.8370+124059C>A) | |
2 | g.108897105C= | CA1278354275 | EDAR,RANBP2 | c.1149G= (p.Leu383=) c.1245G= (p.Leu415=) c.1296G= (p.Leu432=) c.1200G= (p.Leu400=) c.576G= (p.Leu192=) c.1389G= (p.Leu463=) c.1293G= (p.Leu431=) c.8370+124059C= (n.8370+124059C=) | |
2 | g.108897105C>G | CA428204136 | EDAR,RANBP2 | c.1149G>C (p.Leu383=) c.1245G>C (p.Leu415=) c.1296G>C (p.Leu432=) c.1200G>C (p.Leu400=) c.576G>C (p.Leu192=) c.1389G>C (p.Leu463=) c.1293G>C (p.Leu431=) c.8370+124059C>G (n.8370+124059C>G) | |
2 | g.108897105C>T | CA53464798 | EDAR,RANBP2 | c.1149G>A (p.Leu383=) c.1245G>A (p.Leu415=) c.1296G>A (p.Leu432=) c.1200G>A (p.Leu400=) c.576G>A (p.Leu192=) c.1389G>A (p.Leu463=) c.1293G>A (p.Leu431=) c.8370+124059C>T (n.8370+124059C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897106_108897109del | CA2586969741 | EDAR,RANBP2 | c.1146_1149del (p.Leu383ArgfsTer8) c.1242_1245del (p.Leu415ArgfsTer8) c.1293_1296del (p.Leu432ArgfsTer8) c.1197_1200del (p.Leu400ArgfsTer8) c.573_576del (p.Leu192ArgfsTer8) c.1386_1389del (p.Leu463ArgfsTer8) c.1290_1293del (p.Leu431ArgfsTer8) c.8370+124060_8370+124063del (n.8370+124060_8370+124063del) | |
2 | g.108897106A>C | CA348048119 | EDAR,RANBP2 | c.1148T>G (p.Leu383Arg) c.1244T>G (p.Leu415Arg) c.1295T>G (p.Leu432Arg) c.1199T>G (p.Leu400Arg) c.575T>G (p.Leu192Arg) c.1388T>G (p.Leu463Arg) c.1292T>G (p.Leu431Arg) c.8370+124060A>C (n.8370+124060A>C) | |
2 | g.108897106A>G | CA348048120 | EDAR,RANBP2 | c.1148T>C (p.Leu383Pro) c.1244T>C (p.Leu415Pro) c.1295T>C (p.Leu432Pro) c.1199T>C (p.Leu400Pro) c.575T>C (p.Leu192Pro) c.1388T>C (p.Leu463Pro) c.1292T>C (p.Leu431Pro) c.8370+124060A>G (n.8370+124060A>G) | ClinVar |
2 | g.108897106A>T | CA348048121 | EDAR,RANBP2 | c.1148T>A (p.Leu383Gln) c.1244T>A (p.Leu415Gln) c.1295T>A (p.Leu432Gln) c.1199T>A (p.Leu400Gln) c.575T>A (p.Leu192Gln) c.1388T>A (p.Leu463Gln) c.1292T>A (p.Leu431Gln) c.8370+124060A>T (n.8370+124060A>T) | |
2 | g.108897107G>A | CA428204138 | EDAR,RANBP2 | c.1147C>T (p.Leu383=) c.1243C>T (p.Leu415=) c.1294C>T (p.Leu432=) c.1198C>T (p.Leu400=) c.574C>T (p.Leu192=) c.1387C>T (p.Leu463=) c.1291C>T (p.Leu431=) c.8370+124061G>A (n.8370+124061G>A) | |
2 | g.108897107G>C | CA348048122 | EDAR,RANBP2 | c.1147C>G (p.Leu383Val) c.1243C>G (p.Leu415Val) c.1294C>G (p.Leu432Val) c.1198C>G (p.Leu400Val) c.574C>G (p.Leu192Val) c.1387C>G (p.Leu463Val) c.1291C>G (p.Leu431Val) c.8370+124061G>C (n.8370+124061G>C) | |
2 | g.108897107G>T | CA348048123 | EDAR,RANBP2 | c.1147C>A (p.Leu383Met) c.1243C>A (p.Leu415Met) c.1294C>A (p.Leu432Met) c.1198C>A (p.Leu400Met) c.574C>A (p.Leu192Met) c.1387C>A (p.Leu463Met) c.1291C>A (p.Leu431Met) c.8370+124061G>T (n.8370+124061G>T) | |
2 | g.108897108G>A | CA428204139 | EDAR,RANBP2 | c.1146C>T (p.Gly382=) c.1242C>T (p.Gly414=) c.1293C>T (p.Gly431=) c.1197C>T (p.Gly399=) c.573C>T (p.Gly191=) c.1386C>T (p.Gly462=) c.1290C>T (p.Gly430=) c.8370+124062G>A (n.8370+124062G>A) | |
2 | g.108897108G>C | CA428204140 | EDAR,RANBP2 | c.1146C>G (p.Gly382=) c.1242C>G (p.Gly414=) c.1293C>G (p.Gly431=) c.1197C>G (p.Gly399=) c.573C>G (p.Gly191=) c.1386C>G (p.Gly462=) c.1290C>G (p.Gly430=) c.8370+124062G>C (n.8370+124062G>C) | |
2 | g.108897108G>T | CA428204141 | EDAR,RANBP2 | c.1146C>A (p.Gly382=) c.1242C>A (p.Gly414=) c.1293C>A (p.Gly431=) c.1197C>A (p.Gly399=) c.573C>A (p.Gly191=) c.1386C>A (p.Gly462=) c.1290C>A (p.Gly430=) c.8370+124062G>T (n.8370+124062G>T) | |
2 | g.108897109C>A | CA348048124 | EDAR,RANBP2 | c.1145G>T (p.Gly382Val) c.1241G>T (p.Gly414Val) c.1292G>T (p.Gly431Val) c.1196G>T (p.Gly399Val) c.572G>T (p.Gly191Val) c.1385G>T (p.Gly462Val) c.1289G>T (p.Gly430Val) c.8370+124063C>A (n.8370+124063C>A) | |
2 | g.108897109C= | CA1278354276 | EDAR,RANBP2 | c.1145G= (p.Gly382=) c.1241G= (p.Gly414=) c.1292G= (p.Gly431=) c.1196G= (p.Gly399=) c.572G= (p.Gly191=) c.1385G= (p.Gly462=) c.1289G= (p.Gly430=) c.8370+124063C= (n.8370+124063C=) | |
2 | g.108897109C>G | CA348048125 | EDAR,RANBP2 | c.1145G>C (p.Gly382Ala) c.1241G>C (p.Gly414Ala) c.1292G>C (p.Gly431Ala) c.1196G>C (p.Gly399Ala) c.572G>C (p.Gly191Ala) c.1385G>C (p.Gly462Ala) c.1289G>C (p.Gly430Ala) c.8370+124063C>G (n.8370+124063C>G) | |
2 | g.108897109C>T | CA348048126 | EDAR,RANBP2 | c.1145G>A (p.Gly382Asp) c.1241G>A (p.Gly414Asp) c.1292G>A (p.Gly431Asp) c.1196G>A (p.Gly399Asp) c.572G>A (p.Gly191Asp) c.1385G>A (p.Gly462Asp) c.1289G>A (p.Gly430Asp) c.8370+124063C>T (n.8370+124063C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897110C>A | CA348048128 | EDAR,RANBP2 | c.1144G>T (p.Gly382Cys) c.1240G>T (p.Gly414Cys) c.1291G>T (p.Gly431Cys) c.1195G>T (p.Gly399Cys) c.571G>T (p.Gly191Cys) c.1384G>T (p.Gly462Cys) c.1288G>T (p.Gly430Cys) c.8370+124064C>A (n.8370+124064C>A) | |
2 | g.108897110C= | CA1278354277 | EDAR,RANBP2 | c.1144G= (p.Gly382=) c.1240G= (p.Gly414=) c.1291G= (p.Gly431=) c.1195G= (p.Gly399=) c.571G= (p.Gly191=) c.1384G= (p.Gly462=) c.1288G= (p.Gly430=) c.8370+124064C= (n.8370+124064C=) | |
2 | g.108897110C>G | CA348048127 | EDAR,RANBP2 | c.1144G>C (p.Gly382Arg) c.1240G>C (p.Gly414Arg) c.1291G>C (p.Gly431Arg) c.1195G>C (p.Gly399Arg) c.571G>C (p.Gly191Arg) c.1384G>C (p.Gly462Arg) c.1288G>C (p.Gly430Arg) c.8370+124064C>G (n.8370+124064C>G) | |
2 | g.108897110C>T | CA274979 | EDAR,RANBP2 | c.1144G>A (p.Gly382Ser) c.1240G>A (p.Gly414Ser) c.1291G>A (p.Gly431Ser) c.1195G>A (p.Gly399Ser) c.571G>A (p.Gly191Ser) c.1384G>A (p.Gly462Ser) c.1288G>A (p.Gly430Ser) c.8370+124064C>T (n.8370+124064C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897111G>A | CA1824809 | EDAR,RANBP2 | c.1143C>T (p.Phe381=) c.1239C>T (p.Phe413=) c.1290C>T (p.Phe430=) c.1194C>T (p.Phe398=) c.570C>T (p.Phe190=) c.1383C>T (p.Phe461=) c.1287C>T (p.Phe429=) c.8370+124065G>A (n.8370+124065G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897111G>C | CA348048129 | EDAR,RANBP2 | c.1143C>G (p.Phe381Leu) c.1239C>G (p.Phe413Leu) c.1290C>G (p.Phe430Leu) c.1194C>G (p.Phe398Leu) c.570C>G (p.Phe190Leu) c.1383C>G (p.Phe461Leu) c.1287C>G (p.Phe429Leu) c.8370+124065G>C (n.8370+124065G>C) | |
2 | g.108897111G= | CA1278354278 | EDAR,RANBP2 | c.1143C= (p.Phe381=) c.1239C= (p.Phe413=) c.1290C= (p.Phe430=) c.1194C= (p.Phe398=) c.570C= (p.Phe190=) c.1383C= (p.Phe461=) c.1287C= (p.Phe429=) c.8370+124065G= (n.8370+124065G=) | |
2 | g.108897111G>T | CA348048130 | EDAR,RANBP2 | c.1143C>A (p.Phe381Leu) c.1239C>A (p.Phe413Leu) c.1290C>A (p.Phe430Leu) c.1194C>A (p.Phe398Leu) c.570C>A (p.Phe190Leu) c.1383C>A (p.Phe461Leu) c.1287C>A (p.Phe429Leu) c.8370+124065G>T (n.8370+124065G>T) | |
2 | g.108897112A= | CA1278354279 | EDAR,RANBP2 | c.1142T= (p.Phe381=) c.1238T= (p.Phe413=) c.1289T= (p.Phe430=) c.1193T= (p.Phe398=) c.569T= (p.Phe190=) c.1382T= (p.Phe461=) c.1286T= (p.Phe429=) c.8370+124066A= (n.8370+124066A=) | |
2 | g.108897112A>C | CA348048131 | EDAR,RANBP2 | c.1142T>G (p.Phe381Cys) c.1238T>G (p.Phe413Cys) c.1289T>G (p.Phe430Cys) c.1193T>G (p.Phe398Cys) c.569T>G (p.Phe190Cys) c.1382T>G (p.Phe461Cys) c.1286T>G (p.Phe429Cys) c.8370+124066A>C (n.8370+124066A>C) | |
2 | g.108897112A>G | CA348048132 | EDAR,RANBP2 | c.1142T>C (p.Phe381Ser) c.1238T>C (p.Phe413Ser) c.1289T>C (p.Phe430Ser) c.1193T>C (p.Phe398Ser) c.569T>C (p.Phe190Ser) c.1382T>C (p.Phe461Ser) c.1286T>C (p.Phe429Ser) c.8370+124066A>G (n.8370+124066A>G) | ClinVar dbSNP |
2 | g.108897112A>T | CA348048133 | EDAR,RANBP2 | c.1142T>A (p.Phe381Tyr) c.1238T>A (p.Phe413Tyr) c.1289T>A (p.Phe430Tyr) c.1193T>A (p.Phe398Tyr) c.569T>A (p.Phe190Tyr) c.1382T>A (p.Phe461Tyr) c.1286T>A (p.Phe429Tyr) c.8370+124066A>T (n.8370+124066A>T) | |
2 | g.108897113A>C | CA348048134 | EDAR,RANBP2 | c.1141T>G (p.Phe381Val) c.1237T>G (p.Phe413Val) c.1288T>G (p.Phe430Val) c.1192T>G (p.Phe398Val) c.568T>G (p.Phe190Val) c.1381T>G (p.Phe461Val) c.1285T>G (p.Phe429Val) c.8370+124067A>C (n.8370+124067A>C) | |
2 | g.108897113A>G | CA348048135 | EDAR,RANBP2 | c.1141T>C (p.Phe381Leu) c.1237T>C (p.Phe413Leu) c.1288T>C (p.Phe430Leu) c.1192T>C (p.Phe398Leu) c.568T>C (p.Phe190Leu) c.1381T>C (p.Phe461Leu) c.1285T>C (p.Phe429Leu) c.8370+124067A>G (n.8370+124067A>G) | |
2 | g.108897113A>T | CA348048136 | EDAR,RANBP2 | c.1141T>A (p.Phe381Ile) c.1237T>A (p.Phe413Ile) c.1288T>A (p.Phe430Ile) c.1192T>A (p.Phe398Ile) c.568T>A (p.Phe190Ile) c.1381T>A (p.Phe461Ile) c.1285T>A (p.Phe429Ile) c.8370+124067A>T (n.8370+124067A>T) | |
2 | g.108897114G>A | CA1824810 | EDAR,RANBP2 | c.1140C>T (p.Ser380=) c.1236C>T (p.Ser412=) c.1287C>T (p.Ser429=) c.1191C>T (p.Ser397=) c.567C>T (p.Ser189=) c.1380C>T (p.Ser460=) c.1284C>T (p.Ser428=) c.8370+124068G>A (n.8370+124068G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897114G>C | CA348048137 | EDAR,RANBP2 | c.1140C>G (p.Ser380Arg) c.1236C>G (p.Ser412Arg) c.1287C>G (p.Ser429Arg) c.1191C>G (p.Ser397Arg) c.567C>G (p.Ser189Arg) c.1380C>G (p.Ser460Arg) c.1284C>G (p.Ser428Arg) c.8370+124068G>C (n.8370+124068G>C) | |
2 | g.108897114G= | CA1278354280 | EDAR,RANBP2 | c.1140C= (p.Ser380=) c.1236C= (p.Ser412=) c.1287C= (p.Ser429=) c.1191C= (p.Ser397=) c.567C= (p.Ser189=) c.1380C= (p.Ser460=) c.1284C= (p.Ser428=) c.8370+124068G= (n.8370+124068G=) | |
2 | g.108897114G>T | CA348048138 | EDAR,RANBP2 | c.1140C>A (p.Ser380Arg) c.1236C>A (p.Ser412Arg) c.1287C>A (p.Ser429Arg) c.1191C>A (p.Ser397Arg) c.567C>A (p.Ser189Arg) c.1380C>A (p.Ser460Arg) c.1284C>A (p.Ser428Arg) c.8370+124068G>T (n.8370+124068G>T) | gnomAD v4 |
2 | g.108897115C>A | CA348048140 | EDAR,RANBP2 | c.1139G>T (p.Ser380Ile) c.1235G>T (p.Ser412Ile) c.1286G>T (p.Ser429Ile) c.1190G>T (p.Ser397Ile) c.566G>T (p.Ser189Ile) c.1379G>T (p.Ser460Ile) c.1283G>T (p.Ser428Ile) c.8370+124069C>A (n.8370+124069C>A) | |
2 | g.108897115C= | CA1278354281 | EDAR,RANBP2 | c.1139G= (p.Ser380=) c.1235G= (p.Ser412=) c.1286G= (p.Ser429=) c.1190G= (p.Ser397=) c.566G= (p.Ser189=) c.1379G= (p.Ser460=) c.1283G= (p.Ser428=) c.8370+124069C= (n.8370+124069C=) | |
2 | g.108897115C>G | CA348048141 | EDAR,RANBP2 | c.1139G>C (p.Ser380Thr) c.1235G>C (p.Ser412Thr) c.1286G>C (p.Ser429Thr) c.1190G>C (p.Ser397Thr) c.566G>C (p.Ser189Thr) c.1379G>C (p.Ser460Thr) c.1283G>C (p.Ser428Thr) c.8370+124069C>G (n.8370+124069C>G) | |
2 | g.108897115C>T | CA348048139 | EDAR,RANBP2 | c.1139G>A (p.Ser380Asn) c.1235G>A (p.Ser412Asn) c.1286G>A (p.Ser429Asn) c.1190G>A (p.Ser397Asn) c.566G>A (p.Ser189Asn) c.1379G>A (p.Ser460Asn) c.1283G>A (p.Ser428Asn) c.8370+124069C>T (n.8370+124069C>T) | dbSNP gnomAD v4 |
2 | g.108897118_108897119del | CA2660593629 | EDAR,RANBP2 | c.1138_1139del (p.Ser380LeufsTer7) c.1234_1235del (p.Ser412LeufsTer7) c.1285_1286del (p.Ser429LeufsTer7) c.1189_1190del (p.Ser397LeufsTer7) c.565_566del (p.Ser189LeufsTer7) c.1378_1379del (p.Ser460LeufsTer7) c.1282_1283del (p.Ser428LeufsTer7) c.8370+124072_8370+124073del (n.8370+124072_8370+124073del) | gnomAD v4 |
2 | g.108897116T>A | CA348048142 | EDAR,RANBP2 | c.1138A>T (p.Ser380Cys) c.1234A>T (p.Ser412Cys) c.1285A>T (p.Ser429Cys) c.1189A>T (p.Ser397Cys) c.565A>T (p.Ser189Cys) c.1378A>T (p.Ser460Cys) c.1282A>T (p.Ser428Cys) c.8370+124070T>A (n.8370+124070T>A) | |
2 | g.108897116T>C | CA348048143 | EDAR,RANBP2 | c.1138A>G (p.Ser380Gly) c.1234A>G (p.Ser412Gly) c.1285A>G (p.Ser429Gly) c.1189A>G (p.Ser397Gly) c.565A>G (p.Ser189Gly) c.1378A>G (p.Ser460Gly) c.1282A>G (p.Ser428Gly) c.8370+124070T>C (n.8370+124070T>C) | |
2 | g.108897116T>G | CA1824811 | EDAR,RANBP2 | c.1138A>C (p.Ser380Arg) c.1234A>C (p.Ser412Arg) c.1285A>C (p.Ser429Arg) c.1189A>C (p.Ser397Arg) c.565A>C (p.Ser189Arg) c.1378A>C (p.Ser460Arg) c.1282A>C (p.Ser428Arg) c.8370+124070T>G (n.8370+124070T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897116T= | CA1278354282 | EDAR,RANBP2 | c.1138A= (p.Ser380=) c.1234A= (p.Ser412=) c.1285A= (p.Ser429=) c.1189A= (p.Ser397=) c.565A= (p.Ser189=) c.1378A= (p.Ser460=) c.1282A= (p.Ser428=) c.8370+124070T= (n.8370+124070T=) | |
2 | g.108897117C>A | CA348048144 | EDAR,RANBP2 | c.1137G>T (p.Glu379Asp) c.1233G>T (p.Glu411Asp) c.1284G>T (p.Glu428Asp) c.1188G>T (p.Glu396Asp) c.564G>T (p.Glu188Asp) c.1377G>T (p.Glu459Asp) c.1281G>T (p.Glu427Asp) c.8370+124071C>A (n.8370+124071C>A) | dbSNP gnomAD v4 |
2 | g.108897117C= | CA1278354283 | EDAR,RANBP2 | c.1137G= (p.Glu379=) c.1233G= (p.Glu411=) c.1284G= (p.Glu428=) c.1188G= (p.Glu396=) c.564G= (p.Glu188=) c.1377G= (p.Glu459=) c.1281G= (p.Glu427=) c.8370+124071C= (n.8370+124071C=) | |
2 | g.108897117C>G | CA348048145 | EDAR,RANBP2 | c.1137G>C (p.Glu379Asp) c.1233G>C (p.Glu411Asp) c.1284G>C (p.Glu428Asp) c.1188G>C (p.Glu396Asp) c.564G>C (p.Glu188Asp) c.1377G>C (p.Glu459Asp) c.1281G>C (p.Glu427Asp) c.8370+124071C>G (n.8370+124071C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897117C>T | CA428204143 | EDAR,RANBP2 | c.1137G>A (p.Glu379=) c.1233G>A (p.Glu411=) c.1284G>A (p.Glu428=) c.1188G>A (p.Glu396=) c.564G>A (p.Glu188=) c.1377G>A (p.Glu459=) c.1281G>A (p.Glu427=) c.8370+124071C>T (n.8370+124071C>T) | |
2 | g.108897118T>A | CA348048148 | EDAR,RANBP2 | c.1136A>T (p.Glu379Val) c.1232A>T (p.Glu411Val) c.1283A>T (p.Glu428Val) c.1187A>T (p.Glu396Val) c.563A>T (p.Glu188Val) c.1376A>T (p.Glu459Val) c.1280A>T (p.Glu427Val) c.8370+124072T>A (n.8370+124072T>A) | |
2 | g.108897118T>C | CA348048146 | EDAR,RANBP2 | c.1136A>G (p.Glu379Gly) c.1232A>G (p.Glu411Gly) c.1283A>G (p.Glu428Gly) c.1187A>G (p.Glu396Gly) c.563A>G (p.Glu188Gly) c.1376A>G (p.Glu459Gly) c.1280A>G (p.Glu427Gly) c.8370+124072T>C (n.8370+124072T>C) | |
2 | g.108897118T>G | CA348048147 | EDAR,RANBP2 | c.1136A>C (p.Glu379Ala) c.1232A>C (p.Glu411Ala) c.1283A>C (p.Glu428Ala) c.1187A>C (p.Glu396Ala) c.563A>C (p.Glu188Ala) c.1376A>C (p.Glu459Ala) c.1280A>C (p.Glu427Ala) c.8370+124072T>G (n.8370+124072T>G) | |
2 | g.108897119C>A | CA348048149 | EDAR,RANBP2 | c.1135G>T (p.Glu379Ter) c.1231G>T (p.Glu411Ter) c.1282G>T (p.Glu428Ter) c.1186G>T (p.Glu396Ter) c.562G>T (p.Glu188Ter) c.1375G>T (p.Glu459Ter) c.1279G>T (p.Glu427Ter) c.8370+124073C>A (n.8370+124073C>A) | |
2 | g.108897119C= | CA1278354284 | EDAR,RANBP2 | c.1135G= (p.Glu379=) c.1231G= (p.Glu411=) c.1282G= (p.Glu428=) c.1186G= (p.Glu396=) c.562G= (p.Glu188=) c.1375G= (p.Glu459=) c.1279G= (p.Glu427=) c.8370+124073C= (n.8370+124073C=) | |
2 | g.108897119C>G | CA348048150 | EDAR,RANBP2 | c.1135G>C (p.Glu379Gln) c.1231G>C (p.Glu411Gln) c.1282G>C (p.Glu428Gln) c.1186G>C (p.Glu396Gln) c.562G>C (p.Glu188Gln) c.1375G>C (p.Glu459Gln) c.1279G>C (p.Glu427Gln) c.8370+124073C>G (n.8370+124073C>G) | |
2 | g.108897119C>T | CA1824812 | EDAR,RANBP2 | c.1135G>A (p.Glu379Lys) c.1231G>A (p.Glu411Lys) c.1282G>A (p.Glu428Lys) c.1186G>A (p.Glu396Lys) c.562G>A (p.Glu188Lys) c.1375G>A (p.Glu459Lys) c.1279G>A (p.Glu427Lys) c.8370+124073C>T (n.8370+124073C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897120G>A | CA428204147 | EDAR,RANBP2 | c.1134C>T (p.Ala378=) c.1230C>T (p.Ala410=) c.1281C>T (p.Ala427=) c.1185C>T (p.Ala395=) c.561C>T (p.Ala187=) c.1374C>T (p.Ala458=) c.1278C>T (p.Ala426=) c.8370+124074G>A (n.8370+124074G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.108897120G>C | CA428204146 | EDAR,RANBP2 | c.1134C>G (p.Ala378=) c.1230C>G (p.Ala410=) c.1281C>G (p.Ala427=) c.1185C>G (p.Ala395=) c.561C>G (p.Ala187=) c.1374C>G (p.Ala458=) c.1278C>G (p.Ala426=) c.8370+124074G>C (n.8370+124074G>C) | |
2 | g.108897120G= | CA1278354285 | EDAR,RANBP2 | c.1134C= (p.Ala378=) c.1230C= (p.Ala410=) c.1281C= (p.Ala427=) c.1185C= (p.Ala395=) c.561C= (p.Ala187=) c.1374C= (p.Ala458=) c.1278C= (p.Ala426=) c.8370+124074G= (n.8370+124074G=) | |
2 | g.108897120G>T | CA428204145 | EDAR,RANBP2 | c.1134C>A (p.Ala378=) c.1230C>A (p.Ala410=) c.1281C>A (p.Ala427=) c.1185C>A (p.Ala395=) c.561C>A (p.Ala187=) c.1374C>A (p.Ala458=) c.1278C>A (p.Ala426=) c.8370+124074G>T (n.8370+124074G>T) | |
2 | g.108897121G>A | CA348048151 | EDAR,RANBP2 | c.1133C>T (p.Ala378Val) c.1229C>T (p.Ala410Val) c.1280C>T (p.Ala427Val) c.1184C>T (p.Ala395Val) c.560C>T (p.Ala187Val) c.1373C>T (p.Ala458Val) c.1277C>T (p.Ala426Val) c.8370+124075G>A (n.8370+124075G>A) | ClinVar dbSNP |
2 | g.108897121G>C | CA348048152 | EDAR,RANBP2 | c.1133C>G (p.Ala378Gly) c.1229C>G (p.Ala410Gly) c.1280C>G (p.Ala427Gly) c.1184C>G (p.Ala395Gly) c.560C>G (p.Ala187Gly) c.1373C>G (p.Ala458Gly) c.1277C>G (p.Ala426Gly) c.8370+124075G>C (n.8370+124075G>C) | |
2 | g.108897121G>T | CA348048153 | EDAR,RANBP2 | c.1133C>A (p.Ala378Asp) c.1229C>A (p.Ala410Asp) c.1280C>A (p.Ala427Asp) c.1184C>A (p.Ala395Asp) c.560C>A (p.Ala187Asp) c.1373C>A (p.Ala458Asp) c.1277C>A (p.Ala426Asp) c.8370+124075G>T (n.8370+124075G>T) | |
2 | g.108897122C>A | CA348048156 | EDAR,RANBP2 | c.1132G>T (p.Ala378Ser) c.1228G>T (p.Ala410Ser) c.1279G>T (p.Ala427Ser) c.1183G>T (p.Ala395Ser) c.559G>T (p.Ala187Ser) c.1372G>T (p.Ala458Ser) c.1276G>T (p.Ala426Ser) c.8370+124076C>A (n.8370+124076C>A) | |
2 | g.108897122C= | CA1278354286 | EDAR,RANBP2 | c.1132G= (p.Ala378=) c.1228G= (p.Ala410=) c.1279G= (p.Ala427=) c.1183G= (p.Ala395=) c.559G= (p.Ala187=) c.1372G= (p.Ala458=) c.1276G= (p.Ala426=) c.8370+124076C= (n.8370+124076C=) | |
2 | g.108897122C>G | CA348048155 | EDAR,RANBP2 | c.1132G>C (p.Ala378Pro) c.1228G>C (p.Ala410Pro) c.1279G>C (p.Ala427Pro) c.1183G>C (p.Ala395Pro) c.559G>C (p.Ala187Pro) c.1372G>C (p.Ala458Pro) c.1276G>C (p.Ala426Pro) c.8370+124076C>G (n.8370+124076C>G) | |
2 | g.108897122C>T | CA348048154 | EDAR,RANBP2 | c.1132G>A (p.Ala378Thr) c.1228G>A (p.Ala410Thr) c.1279G>A (p.Ala427Thr) c.1183G>A (p.Ala395Thr) c.559G>A (p.Ala187Thr) c.1372G>A (p.Ala458Thr) c.1276G>A (p.Ala426Thr) c.8370+124076C>T (n.8370+124076C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897123G>A | CA1824813 | EDAR,RANBP2 | c.1131C>T (p.Leu377=) c.1227C>T (p.Leu409=) c.1278C>T (p.Leu426=) c.1182C>T (p.Leu394=) c.558C>T (p.Leu186=) c.1371C>T (p.Leu457=) c.1275C>T (p.Leu425=) c.8370+124077G>A (n.8370+124077G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.108897123G>C | CA428204149 | EDAR,RANBP2 | c.1131C>G (p.Leu377=) c.1227C>G (p.Leu409=) c.1278C>G (p.Leu426=) c.1182C>G (p.Leu394=) c.558C>G (p.Leu186=) c.1371C>G (p.Leu457=) c.1275C>G (p.Leu425=) c.8370+124077G>C (n.8370+124077G>C) | |
2 | g.108897123G= | CA1278354287 | EDAR,RANBP2 | c.1131C= (p.Leu377=) c.1227C= (p.Leu409=) c.1278C= (p.Leu426=) c.1182C= (p.Leu394=) c.558C= (p.Leu186=) c.1371C= (p.Leu457=) c.1275C= (p.Leu425=) c.8370+124077G= (n.8370+124077G=) | |
2 | g.108897123G>T | CA428204148 | EDAR,RANBP2 | c.1131C>A (p.Leu377=) c.1227C>A (p.Leu409=) c.1278C>A (p.Leu426=) c.1182C>A (p.Leu394=) c.558C>A (p.Leu186=) c.1371C>A (p.Leu457=) c.1275C>A (p.Leu425=) c.8370+124077G>T (n.8370+124077G>T) | dbSNP |
2 | g.108897124A= | CA1278354288 | EDAR,RANBP2 | c.1130T= (p.Leu377=) c.1226T= (p.Leu409=) c.1277T= (p.Leu426=) c.1181T= (p.Leu394=) c.557T= (p.Leu186=) c.1370T= (p.Leu457=) c.1274T= (p.Leu425=) c.8370+124078A= (n.8370+124078A=) | |
2 | g.108897124A>C | CA348048157 | EDAR,RANBP2 | c.1130T>G (p.Leu377Arg) c.1226T>G (p.Leu409Arg) c.1277T>G (p.Leu426Arg) c.1181T>G (p.Leu394Arg) c.557T>G (p.Leu186Arg) c.1370T>G (p.Leu457Arg) c.1274T>G (p.Leu425Arg) c.8370+124078A>C (n.8370+124078A>C) | |
2 | g.108897124A>G | CA348048159 | EDAR,RANBP2 | c.1130T>C (p.Leu377Pro) c.1226T>C (p.Leu409Pro) c.1277T>C (p.Leu426Pro) c.1181T>C (p.Leu394Pro) c.557T>C (p.Leu186Pro) c.1370T>C (p.Leu457Pro) c.1274T>C (p.Leu425Pro) c.8370+124078A>G (n.8370+124078A>G) | ClinVar dbSNP |
2 | g.108897124A>T | CA348048158 | EDAR,RANBP2 | c.1130T>A (p.Leu377His) c.1226T>A (p.Leu409His) c.1277T>A (p.Leu426His) c.1181T>A (p.Leu394His) c.557T>A (p.Leu186His) c.1370T>A (p.Leu457His) c.1274T>A (p.Leu425His) c.8370+124078A>T (n.8370+124078A>T) | |
2 | g.108897125G>A | CA348048160 | EDAR,RANBP2 | c.1129C>T (p.Leu377Phe) c.1225C>T (p.Leu409Phe) c.1276C>T (p.Leu426Phe) c.1180C>T (p.Leu394Phe) c.556C>T (p.Leu186Phe) c.1369C>T (p.Leu457Phe) c.1273C>T (p.Leu425Phe) c.8370+124079G>A (n.8370+124079G>A) | |
2 | g.108897125G>C | CA348048162 | EDAR,RANBP2 | c.1129C>G (p.Leu377Val) c.1225C>G (p.Leu409Val) c.1276C>G (p.Leu426Val) c.1180C>G (p.Leu394Val) c.556C>G (p.Leu186Val) c.1369C>G (p.Leu457Val) c.1273C>G (p.Leu425Val) c.8370+124079G>C (n.8370+124079G>C) | |
2 | g.108897125G>T | CA348048161 | EDAR,RANBP2 | c.1129C>A (p.Leu377Ile) c.1225C>A (p.Leu409Ile) c.1276C>A (p.Leu426Ile) c.1180C>A (p.Leu394Ile) c.556C>A (p.Leu186Ile) c.1369C>A (p.Leu457Ile) c.1273C>A (p.Leu425Ile) c.8370+124079G>T (n.8370+124079G>T) | |
2 | g.108897126G>A | CA428204150 | EDAR,RANBP2 | c.1128C>T (p.His376=) c.1224C>T (p.His408=) c.1275C>T (p.His425=) c.1179C>T (p.His393=) c.555C>T (p.His185=) c.1368C>T (p.His456=) c.1272C>T (p.His424=) c.8370+124080G>A (n.8370+124080G>A) | ClinVar |
2 | g.108897126G>C | CA348048163 | EDAR,RANBP2 | c.1128C>G (p.His376Gln) c.1224C>G (p.His408Gln) c.1275C>G (p.His425Gln) c.1179C>G (p.His393Gln) c.555C>G (p.His185Gln) c.1368C>G (p.His456Gln) c.1272C>G (p.His424Gln) c.8370+124080G>C (n.8370+124080G>C) | |
2 | g.108897126G>T | CA348048164 | EDAR,RANBP2 | c.1128C>A (p.His376Gln) c.1224C>A (p.His408Gln) c.1275C>A (p.His425Gln) c.1179C>A (p.His393Gln) c.555C>A (p.His185Gln) c.1368C>A (p.His456Gln) c.1272C>A (p.His424Gln) c.8370+124080G>T (n.8370+124080G>T) | |
2 | g.108897127T>A | CA348048165 | EDAR,RANBP2 | c.1127A>T (p.His376Leu) c.1223A>T (p.His408Leu) c.1274A>T (p.His425Leu) c.1178A>T (p.His393Leu) c.554A>T (p.His185Leu) c.1367A>T (p.His456Leu) c.1271A>T (p.His424Leu) c.8370+124081T>A (n.8370+124081T>A) | |
2 | g.108897127T>C | CA348048166 | EDAR,RANBP2 | c.1127A>G (p.His376Arg) c.1223A>G (p.His408Arg) c.1274A>G (p.His425Arg) c.1178A>G (p.His393Arg) c.554A>G (p.His185Arg) c.1367A>G (p.His456Arg) c.1271A>G (p.His424Arg) c.8370+124081T>C (n.8370+124081T>C) | |
2 | g.108897127T>G | CA348048167 | EDAR,RANBP2 | c.1127A>C (p.His376Pro) c.1223A>C (p.His408Pro) c.1274A>C (p.His425Pro) c.1178A>C (p.His393Pro) c.554A>C (p.His185Pro) c.1367A>C (p.His456Pro) c.1271A>C (p.His424Pro) c.8370+124081T>G (n.8370+124081T>G) | dbSNP |
2 | g.108897127T= | CA1278354289 | EDAR,RANBP2 | c.1127A= (p.His376=) c.1223A= (p.His408=) c.1274A= (p.His425=) c.1178A= (p.His393=) c.554A= (p.His185=) c.1367A= (p.His456=) c.1271A= (p.His424=) c.8370+124081T= (n.8370+124081T=) | |
2 | g.108897128G>A | CA348048168 | EDAR,RANBP2 | c.1126C>T (p.His376Tyr) c.1222C>T (p.His408Tyr) c.1273C>T (p.His425Tyr) c.1177C>T (p.His393Tyr) c.553C>T (p.His185Tyr) c.1366C>T (p.His456Tyr) c.1270C>T (p.His424Tyr) c.8370+124082G>A (n.8370+124082G>A) | |
2 | g.108897128G>C | CA348048169 | EDAR,RANBP2 | c.1126C>G (p.His376Asp) c.1222C>G (p.His408Asp) c.1273C>G (p.His425Asp) c.1177C>G (p.His393Asp) c.553C>G (p.His185Asp) c.1366C>G (p.His456Asp) c.1270C>G (p.His424Asp) c.8370+124082G>C (n.8370+124082G>C) | |
2 | g.108897128G>T | CA348048170 | EDAR,RANBP2 | c.1126C>A (p.His376Asn) c.1222C>A (p.His408Asn) c.1273C>A (p.His425Asn) c.1177C>A (p.His393Asn) c.553C>A (p.His185Asn) c.1366C>A (p.His456Asn) c.1270C>A (p.His424Asn) c.8370+124082G>T (n.8370+124082G>T) | |
2 | g.108897129G>A | CA428204151 | EDAR,RANBP2 | c.1125C>T (p.Arg375=) c.1221C>T (p.Arg407=) c.1272C>T (p.Arg424=) c.1176C>T (p.Arg392=) c.552C>T (p.Arg184=) c.1365C>T (p.Arg455=) c.1269C>T (p.Arg423=) c.8370+124083G>A (n.8370+124083G>A) | |
2 | g.108897129G>C | CA428204152 | EDAR,RANBP2 | c.1125C>G (p.Arg375=) c.1221C>G (p.Arg407=) c.1272C>G (p.Arg424=) c.1176C>G (p.Arg392=) c.552C>G (p.Arg184=) c.1365C>G (p.Arg455=) c.1269C>G (p.Arg423=) c.8370+124083G>C (n.8370+124083G>C) | |
2 | g.108897129G>T | CA428204153 | EDAR,RANBP2 | c.1125C>A (p.Arg375=) c.1221C>A (p.Arg407=) c.1272C>A (p.Arg424=) c.1176C>A (p.Arg392=) c.552C>A (p.Arg184=) c.1365C>A (p.Arg455=) c.1269C>A (p.Arg423=) c.8370+124083G>T (n.8370+124083G>T) | |
2 | g.108897130C>A | CA348048172 | EDAR,RANBP2 | c.1124G>T (p.Arg375Leu) c.1220G>T (p.Arg407Leu) c.1271G>T (p.Arg424Leu) c.1175G>T (p.Arg392Leu) c.551G>T (p.Arg184Leu) c.1364G>T (p.Arg455Leu) c.1268G>T (p.Arg423Leu) c.8370+124084C>A (n.8370+124084C>A) | |
2 | g.108897130C= | CA1278354290 | EDAR,RANBP2 | c.1124G= (p.Arg375=) c.1220G= (p.Arg407=) c.1271G= (p.Arg424=) c.1175G= (p.Arg392=) c.551G= (p.Arg184=) c.1364G= (p.Arg455=) c.1268G= (p.Arg423=) c.8370+124084C= (n.8370+124084C=) | |
2 | g.108897130C>G | CA348048171 | EDAR,RANBP2 | c.1124G>C (p.Arg375Pro) c.1220G>C (p.Arg407Pro) c.1271G>C (p.Arg424Pro) c.1175G>C (p.Arg392Pro) c.551G>C (p.Arg184Pro) c.1364G>C (p.Arg455Pro) c.1268G>C (p.Arg423Pro) c.8370+124084C>G (n.8370+124084C>G) | gnomAD v4 |
2 | g.108897130C>T | CA253631 | EDAR,RANBP2 | c.1124G>A (p.Arg375His) c.1220G>A (p.Arg407His) c.1271G>A (p.Arg424His) c.1175G>A (p.Arg392His) c.551G>A (p.Arg184His) c.1364G>A (p.Arg455His) c.1268G>A (p.Arg423His) c.8370+124084C>T (n.8370+124084C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.108897131G>A | CA1824814 | EDAR,RANBP2 | c.1123C>T (p.Arg375Cys) c.1219C>T (p.Arg407Cys) c.1270C>T (p.Arg424Cys) c.1174C>T (p.Arg392Cys) c.550C>T (p.Arg184Cys) c.1363C>T (p.Arg455Cys) c.1267C>T (p.Arg423Cys) c.8370+124085G>A (n.8370+124085G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.108897131G>C | CA348048173 | EDAR,RANBP2 | c.1123C>G (p.Arg375Gly) c.1219C>G (p.Arg407Gly) c.1270C>G (p.Arg424Gly) c.1174C>G (p.Arg392Gly) c.550C>G (p.Arg184Gly) c.1363C>G (p.Arg455Gly) c.1267C>G (p.Arg423Gly) c.8370+124085G>C (n.8370+124085G>C) | |
2 | g.108897131G= | CA1278354291 | EDAR,RANBP2 | c.1123C= (p.Arg375=) c.1219C= (p.Arg407=) c.1270C= (p.Arg424=) c.1174C= (p.Arg392=) c.550C= (p.Arg184=) c.1363C= (p.Arg455=) c.1267C= (p.Arg423=) c.8370+124085G= (n.8370+124085G=) | |
2 | g.108897131G>T | CA348048174 | EDAR,RANBP2 | c.1123C>A (p.Arg375Ser) c.1219C>A (p.Arg407Ser) c.1270C>A (p.Arg424Ser) c.1174C>A (p.Arg392Ser) c.550C>A (p.Arg184Ser) c.1363C>A (p.Arg455Ser) c.1267C>A (p.Arg423Ser) c.8370+124085G>T (n.8370+124085G>T) | |
2 | g.108897132C>A | CA348048175 | EDAR,RANBP2 | c.1122G>T (p.Trp374Cys) c.1218G>T (p.Trp406Cys) c.1269G>T (p.Trp423Cys) c.1173G>T (p.Trp391Cys) c.549G>T (p.Trp183Cys) c.1362G>T (p.Trp454Cys) c.1266G>T (p.Trp422Cys) c.8370+124086C>A (n.8370+124086C>A) | |
2 | g.108897132C>G | CA348048176 | EDAR,RANBP2 | c.1122G>C (p.Trp374Cys) c.1218G>C (p.Trp406Cys) c.1269G>C (p.Trp423Cys) c.1173G>C (p.Trp391Cys) c.549G>C (p.Trp183Cys) c.1362G>C (p.Trp454Cys) c.1266G>C (p.Trp422Cys) c.8370+124086C>G (n.8370+124086C>G) | |
2 | g.108897132C>T | CA348048177 | EDAR,RANBP2 | c.1122G>A (p.Trp374Ter) c.1218G>A (p.Trp406Ter) c.1269G>A (p.Trp423Ter) c.1173G>A (p.Trp391Ter) c.549G>A (p.Trp183Ter) c.1362G>A (p.Trp454Ter) c.1266G>A (p.Trp422Ter) c.8370+124086C>T (n.8370+124086C>T) | |
2 | g.108897133C>A | CA53464866 | EDAR,RANBP2 | c.1121G>T (p.Trp374Leu) c.1217G>T (p.Trp406Leu) c.1268G>T (p.Trp423Leu) c.1172G>T (p.Trp391Leu) c.548G>T (p.Trp183Leu) c.1361G>T (p.Trp454Leu) c.1265G>T (p.Trp422Leu) c.8370+124087C>A (n.8370+124087C>A) | dbSNP |
2 | g.108897133C= | CA1278354292 | EDAR,RANBP2 | c.1121G= (p.Trp374=) c.1217G= (p.Trp406=) c.1268G= (p.Trp423=) c.1172G= (p.Trp391=) c.548G= (p.Trp183=) c.1361G= (p.Trp454=) c.1265G= (p.Trp422=) c.8370+124087C= (n.8370+124087C=) | |
2 | g.108897133C>G | CA348048178 | EDAR,RANBP2 | c.1121G>C (p.Trp374Ser) c.1217G>C (p.Trp406Ser) c.1268G>C (p.Trp423Ser) c.1172G>C (p.Trp391Ser) c.548G>C (p.Trp183Ser) c.1361G>C (p.Trp454Ser) c.1265G>C (p.Trp422Ser) c.8370+124087C>G (n.8370+124087C>G) | |
2 | g.108897133C>T | CA10588306 | EDAR,RANBP2 | c.1121G>A (p.Trp374Ter) c.1217G>A (p.Trp406Ter) c.1268G>A (p.Trp423Ter) c.1172G>A (p.Trp391Ter) c.548G>A (p.Trp183Ter) c.1361G>A (p.Trp454Ter) c.1265G>A (p.Trp422Ter) c.8370+124087C>T (n.8370+124087C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.108897134A>C | CA348048179 | EDAR,RANBP2 | c.1120T>G (p.Trp374Gly) c.1216T>G (p.Trp406Gly) c.1267T>G (p.Trp423Gly) c.1171T>G (p.Trp391Gly) c.547T>G (p.Trp183Gly) c.1360T>G (p.Trp454Gly) c.1264T>G (p.Trp422Gly) c.8370+124088A>C (n.8370+124088A>C) | |
2 | g.108897134A>G | CA348048180 | EDAR,RANBP2 | c.1120T>C (p.Trp374Arg) c.1216T>C (p.Trp406Arg) c.1267T>C (p.Trp423Arg) c.1171T>C (p.Trp391Arg) c.547T>C (p.Trp183Arg) c.1360T>C (p.Trp454Arg) c.1264T>C (p.Trp422Arg) c.8370+124088A>G (n.8370+124088A>G) | |
2 | g.108897134A>T | CA348048181 | EDAR,RANBP2 | c.1120T>A (p.Trp374Arg) c.1216T>A (p.Trp406Arg) c.1267T>A (p.Trp423Arg) c.1171T>A (p.Trp391Arg) c.547T>A (p.Trp183Arg) c.1360T>A (p.Trp454Arg) c.1264T>A (p.Trp422Arg) c.8370+124088A>T (n.8370+124088A>T) | |
2 | g.108897135C>A | CA428204164 | EDAR,RANBP2 | c.1119G>T (p.Thr373=) c.1215G>T (p.Thr405=) c.1266G>T (p.Thr422=) c.1170G>T (p.Thr390=) c.546G>T (p.Thr182=) c.1359G>T (p.Thr453=) c.1263G>T (p.Thr421=) c.8370+124089C>A (n.8370+124089C>A) | |
2 | g.108897135C= | CA1278354293 | EDAR,RANBP2 | c.1119G= (p.Thr373=) c.1215G= (p.Thr405=) c.1266G= (p.Thr422=) c.1170G= (p.Thr390=) c.546G= (p.Thr182=) c.1359G= (p.Thr453=) c.1263G= (p.Thr421=) c.8370+124089C= (n.8370+124089C=) | |
2 | g.108897135C>G | CA428204165 | EDAR,RANBP2 | c.1119G>C (p.Thr373=) c.1215G>C (p.Thr405=) c.1266G>C (p.Thr422=) c.1170G>C (p.Thr390=) c.546G>C (p.Thr182=) c.1359G>C (p.Thr453=) c.1263G>C (p.Thr421=) c.8370+124089C>G (n.8370+124089C>G) | dbSNP gnomAD v2 |
2 | g.108897135C>T | CA1824815 | EDAR,RANBP2 | c.1119G>A (p.Thr373=) c.1215G>A (p.Thr405=) c.1266G>A (p.Thr422=) c.1170G>A (p.Thr390=) c.546G>A (p.Thr182=) c.1359G>A (p.Thr453=) c.1263G>A (p.Thr421=) c.8370+124089C>T (n.8370+124089C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897136G>A | CA348048182 | EDAR,RANBP2 | c.1118C>T (p.Thr373Met) c.1214C>T (p.Thr405Met) c.1265C>T (p.Thr422Met) c.1169C>T (p.Thr390Met) c.545C>T (p.Thr182Met) c.1358C>T (p.Thr453Met) c.1262C>T (p.Thr421Met) c.8370+124090G>A (n.8370+124090G>A) | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.108897136G>C | CA348048183 | EDAR,RANBP2 | c.1118C>G (p.Thr373Arg) c.1214C>G (p.Thr405Arg) c.1265C>G (p.Thr422Arg) c.1169C>G (p.Thr390Arg) c.545C>G (p.Thr182Arg) c.1358C>G (p.Thr453Arg) c.1262C>G (p.Thr421Arg) c.8370+124090G>C (n.8370+124090G>C) | |
2 | g.108897136G= | CA1278354294 | EDAR,RANBP2 | c.1118C= (p.Thr373=) c.1214C= (p.Thr405=) c.1265C= (p.Thr422=) c.1169C= (p.Thr390=) c.545C= (p.Thr182=) c.1358C= (p.Thr453=) c.1262C= (p.Thr421=) c.8370+124090G= (n.8370+124090G=) | |
2 | g.108897136G>T | CA348048184 | EDAR,RANBP2 | c.1118C>A (p.Thr373Lys) c.1214C>A (p.Thr405Lys) c.1265C>A (p.Thr422Lys) c.1169C>A (p.Thr390Lys) c.545C>A (p.Thr182Lys) c.1358C>A (p.Thr453Lys) c.1262C>A (p.Thr421Lys) c.8370+124090G>T (n.8370+124090G>T) | |
2 | g.108897137T>A | CA348048185 | EDAR,RANBP2 | c.1117A>T (p.Thr373Ser) c.1213A>T (p.Thr405Ser) c.1264A>T (p.Thr422Ser) c.1168A>T (p.Thr390Ser) c.544A>T (p.Thr182Ser) c.1357A>T (p.Thr453Ser) c.1261A>T (p.Thr421Ser) c.8370+124091T>A (n.8370+124091T>A) | |
2 | g.108897137T>C | CA348048186 | EDAR,RANBP2 | c.1117A>G (p.Thr373Ala) c.1213A>G (p.Thr405Ala) c.1264A>G (p.Thr422Ala) c.1168A>G (p.Thr390Ala) c.544A>G (p.Thr182Ala) c.1357A>G (p.Thr453Ala) c.1261A>G (p.Thr421Ala) c.8370+124091T>C (n.8370+124091T>C) | |
2 | g.108897137T>G | CA348048187 | EDAR,RANBP2 | c.1117A>C (p.Thr373Pro) c.1213A>C (p.Thr405Pro) c.1264A>C (p.Thr422Pro) c.1168A>C (p.Thr390Pro) c.544A>C (p.Thr182Pro) c.1357A>C (p.Thr453Pro) c.1261A>C (p.Thr421Pro) c.8370+124091T>G (n.8370+124091T>G) | |
2 | g.108897138T>A | CA348048188 | EDAR,RANBP2 | c.1116A>T (p.Lys372Asn) c.1212A>T (p.Lys404Asn) c.1263A>T (p.Lys421Asn) c.1167A>T (p.Lys389Asn) c.543A>T (p.Lys181Asn) c.1356A>T (p.Lys452Asn) c.1260A>T (p.Lys420Asn) c.8370+124092T>A (n.8370+124092T>A) | |
2 | g.108897138T>C | CA428204170 | EDAR,RANBP2 | c.1116A>G (p.Lys372=) c.1212A>G (p.Lys404=) c.1263A>G (p.Lys421=) c.1167A>G (p.Lys389=) c.543A>G (p.Lys181=) c.1356A>G (p.Lys452=) c.1260A>G (p.Lys420=) c.8370+124092T>C (n.8370+124092T>C) | |
2 | g.108897138T>G | CA348048189 | EDAR,RANBP2 | c.1116A>C (p.Lys372Asn) c.1212A>C (p.Lys404Asn) c.1263A>C (p.Lys421Asn) c.1167A>C (p.Lys389Asn) c.543A>C (p.Lys181Asn) c.1356A>C (p.Lys452Asn) c.1260A>C (p.Lys420Asn) c.8370+124092T>G (n.8370+124092T>G) | |
2 | g.108897139T>A | CA348048190 | EDAR,RANBP2 | c.1115A>T (p.Lys372Ile) c.1211A>T (p.Lys404Ile) c.1262A>T (p.Lys421Ile) c.1166A>T (p.Lys389Ile) c.542A>T (p.Lys181Ile) c.1355A>T (p.Lys452Ile) c.1259A>T (p.Lys420Ile) c.8370+124093T>A (n.8370+124093T>A) | |
2 | g.108897139T>C | CA348048192 | EDAR,RANBP2 | c.1115A>G (p.Lys372Arg) c.1211A>G (p.Lys404Arg) c.1262A>G (p.Lys421Arg) c.1166A>G (p.Lys389Arg) c.542A>G (p.Lys181Arg) c.1355A>G (p.Lys452Arg) c.1259A>G (p.Lys420Arg) c.8370+124093T>C (n.8370+124093T>C) | |
2 | g.108897139T>G | CA348048191 | EDAR,RANBP2 | c.1115A>C (p.Lys372Thr) c.1211A>C (p.Lys404Thr) c.1262A>C (p.Lys421Thr) c.1166A>C (p.Lys389Thr) c.542A>C (p.Lys181Thr) c.1355A>C (p.Lys452Thr) c.1259A>C (p.Lys420Thr) c.8370+124093T>G (n.8370+124093T>G) | |
2 | g.108897140T>A | CA348048193 | EDAR,RANBP2 | c.1114A>T (p.Lys372Ter) c.1210A>T (p.Lys404Ter) c.1261A>T (p.Lys421Ter) c.1165A>T (p.Lys389Ter) c.541A>T (p.Lys181Ter) c.1354A>T (p.Lys452Ter) c.1258A>T (p.Lys420Ter) c.8370+124094T>A (n.8370+124094T>A) | |
2 | g.108897140T>C | CA348048194 | EDAR,RANBP2 | c.1114A>G (p.Lys372Glu) c.1210A>G (p.Lys404Glu) c.1261A>G (p.Lys421Glu) c.1165A>G (p.Lys389Glu) c.541A>G (p.Lys181Glu) c.1354A>G (p.Lys452Glu) c.1258A>G (p.Lys420Glu) c.8370+124094T>C (n.8370+124094T>C) | |
2 | g.108897140T>G | CA348048195 | EDAR,RANBP2 | c.1114A>C (p.Lys372Gln) c.1210A>C (p.Lys404Gln) c.1261A>C (p.Lys421Gln) c.1165A>C (p.Lys389Gln) c.541A>C (p.Lys181Gln) c.1354A>C (p.Lys452Gln) c.1258A>C (p.Lys420Gln) c.8370+124094T>G (n.8370+124094T>G) | COSMIC COSMIC |
2 | g.108897141C>A | CA428204174 | EDAR,RANBP2 | c.1113G>T (p.Val371=) c.1209G>T (p.Val403=) c.1260G>T (p.Val420=) c.1164G>T (p.Val388=) c.540G>T (p.Val180=) c.1353G>T (p.Val451=) c.1257G>T (p.Val419=) c.8370+124095C>A (n.8370+124095C>A) | |
2 | g.108897141C>G | CA428204175 | EDAR,RANBP2 | c.1113G>C (p.Val371=) c.1209G>C (p.Val403=) c.1260G>C (p.Val420=) c.1164G>C (p.Val388=) c.540G>C (p.Val180=) c.1353G>C (p.Val451=) c.1257G>C (p.Val419=) c.8370+124095C>G (n.8370+124095C>G) | |
2 | g.108897141C>T | CA428204176 | EDAR,RANBP2 | c.1113G>A (p.Val371=) c.1209G>A (p.Val403=) c.1260G>A (p.Val420=) c.1164G>A (p.Val388=) c.540G>A (p.Val180=) c.1353G>A (p.Val451=) c.1257G>A (p.Val419=) c.8370+124095C>T (n.8370+124095C>T) | COSMIC COSMIC |
2 | g.108897142A= | CA1278354295 | EDAR,RANBP2 | c.1112T= (p.Val371=) c.1208T= (p.Val403=) c.1259T= (p.Val420=) c.1163T= (p.Val388=) c.539T= (p.Val180=) c.1352T= (p.Val451=) c.1256T= (p.Val419=) c.8370+124096A= (n.8370+124096A=) | |
2 | g.108897142A>C | CA348048196 | EDAR,RANBP2 | c.1112T>G (p.Val371Gly) c.1208T>G (p.Val403Gly) c.1259T>G (p.Val420Gly) c.1163T>G (p.Val388Gly) c.539T>G (p.Val180Gly) c.1352T>G (p.Val451Gly) c.1256T>G (p.Val419Gly) c.8370+124096A>C (n.8370+124096A>C) | gnomAD v4 |
2 | g.108897142A>G | CA348048197 | EDAR,RANBP2 | c.1112T>C (p.Val371Ala) c.1208T>C (p.Val403Ala) c.1259T>C (p.Val420Ala) c.1163T>C (p.Val388Ala) c.539T>C (p.Val180Ala) c.1352T>C (p.Val451Ala) c.1256T>C (p.Val419Ala) c.8370+124096A>G (n.8370+124096A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897142A>T | CA348048198 | EDAR,RANBP2 | c.1112T>A (p.Val371Glu) c.1208T>A (p.Val403Glu) c.1259T>A (p.Val420Glu) c.1163T>A (p.Val388Glu) c.539T>A (p.Val180Glu) c.1352T>A (p.Val451Glu) c.1256T>A (p.Val419Glu) c.8370+124096A>T (n.8370+124096A>T) | |
2 | g.108897143C>A | CA348048199 | EDAR,RANBP2 | c.1111G>T (p.Val371Leu) c.1207G>T (p.Val403Leu) c.1258G>T (p.Val420Leu) c.1162G>T (p.Val388Leu) c.538G>T (p.Val180Leu) c.1351G>T (p.Val451Leu) c.1255G>T (p.Val419Leu) c.8370+124097C>A (n.8370+124097C>A) | |
2 | g.108897143C>G | CA348048200 | EDAR,RANBP2 | c.1111G>C (p.Val371Leu) c.1207G>C (p.Val403Leu) c.1258G>C (p.Val420Leu) c.1162G>C (p.Val388Leu) c.538G>C (p.Val180Leu) c.1351G>C (p.Val451Leu) c.1255G>C (p.Val419Leu) c.8370+124097C>G (n.8370+124097C>G) | |
2 | g.108897143C>T | CA348048201 | EDAR,RANBP2 | c.1111G>A (p.Val371Met) c.1207G>A (p.Val403Met) c.1258G>A (p.Val420Met) c.1162G>A (p.Val388Met) c.538G>A (p.Val180Met) c.1351G>A (p.Val451Met) c.1255G>A (p.Val419Met) c.8370+124097C>T (n.8370+124097C>T) | |
2 | g.108897144A>C | CA428204182 | EDAR,RANBP2 | c.1110T>G (p.Val370=) c.1206T>G (p.Val402=) c.1257T>G (p.Val419=) c.1161T>G (p.Val387=) c.537T>G (p.Val179=) c.1350T>G (p.Val450=) c.1254T>G (p.Val418=) c.8370+124098A>C (n.8370+124098A>C) | |
2 | g.108897144A>G | CA428204178 | EDAR,RANBP2 | c.1110T>C (p.Val370=) c.1206T>C (p.Val402=) c.1257T>C (p.Val419=) c.1161T>C (p.Val387=) c.537T>C (p.Val179=) c.1350T>C (p.Val450=) c.1254T>C (p.Val418=) c.8370+124098A>G (n.8370+124098A>G) | |
2 | g.108897144A>T | CA428204180 | EDAR,RANBP2 | c.1110T>A (p.Val370=) c.1206T>A (p.Val402=) c.1257T>A (p.Val419=) c.1161T>A (p.Val387=) c.537T>A (p.Val179=) c.1350T>A (p.Val450=) c.1254T>A (p.Val418=) c.8370+124098A>T (n.8370+124098A>T) | |
2 | g.108897145A= | CA1278354296 | EDAR,RANBP2 | c.1109T= (p.Val370=) c.1205T= (p.Val402=) c.1256T= (p.Val419=) c.1160T= (p.Val387=) c.536T= (p.Val179=) c.1349T= (p.Val450=) c.1253T= (p.Val418=) c.8370+124099A= (n.8370+124099A=) | |
2 | g.108897145A>C | CA348048202 | EDAR,RANBP2 | c.1109T>G (p.Val370Gly) c.1205T>G (p.Val402Gly) c.1256T>G (p.Val419Gly) c.1160T>G (p.Val387Gly) c.536T>G (p.Val179Gly) c.1349T>G (p.Val450Gly) c.1253T>G (p.Val418Gly) c.8370+124099A>C (n.8370+124099A>C) | dbSNP |
2 | g.108897145A>G | CA117813 | EDAR,RANBP2 | c.1109T>C (p.Val370Ala) c.1205T>C (p.Val402Ala) c.1256T>C (p.Val419Ala) c.1160T>C (p.Val387Ala) c.536T>C (p.Val179Ala) c.1349T>C (p.Val450Ala) c.1253T>C (p.Val418Ala) c.8370+124099A>G (n.8370+124099A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897145A>T | CA348048203 | EDAR,RANBP2 | c.1109T>A (p.Val370Asp) c.1205T>A (p.Val402Asp) c.1256T>A (p.Val419Asp) c.1160T>A (p.Val387Asp) c.536T>A (p.Val179Asp) c.1349T>A (p.Val450Asp) c.1253T>A (p.Val418Asp) c.8370+124099A>T (n.8370+124099A>T) | |
2 | g.108897146C>A | CA348048206 | EDAR,RANBP2 | c.1108G>T (p.Val370Phe) c.1204G>T (p.Val402Phe) c.1255G>T (p.Val419Phe) c.1159G>T (p.Val387Phe) c.535G>T (p.Val179Phe) c.1348G>T (p.Val450Phe) c.1252G>T (p.Val418Phe) c.8370+124100C>A (n.8370+124100C>A) | |
2 | g.108897146C= | CA1278354297 | EDAR,RANBP2 | c.1108G= (p.Val370=) c.1204G= (p.Val402=) c.1255G= (p.Val419=) c.1159G= (p.Val387=) c.535G= (p.Val179=) c.1348G= (p.Val450=) c.1252G= (p.Val418=) c.8370+124100C= (n.8370+124100C=) | |
2 | g.108897146C>G | CA348048205 | EDAR,RANBP2 | c.1108G>C (p.Val370Leu) c.1204G>C (p.Val402Leu) c.1255G>C (p.Val419Leu) c.1159G>C (p.Val387Leu) c.535G>C (p.Val179Leu) c.1348G>C (p.Val450Leu) c.1252G>C (p.Val418Leu) c.8370+124100C>G (n.8370+124100C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897146C>T | CA348048204 | EDAR,RANBP2 | c.1108G>A (p.Val370Ile) c.1204G>A (p.Val402Ile) c.1255G>A (p.Val419Ile) c.1159G>A (p.Val387Ile) c.535G>A (p.Val179Ile) c.1348G>A (p.Val450Ile) c.1252G>A (p.Val418Ile) c.8370+124100C>T (n.8370+124100C>T) | |
2 | g.108897147A= | CA1278354298 | EDAR,RANBP2 | c.1107T= (p.Ala369=) c.1203T= (p.Ala401=) c.1254T= (p.Ala418=) c.1158T= (p.Ala386=) c.534T= (p.Ala178=) c.1347T= (p.Ala449=) c.1251T= (p.Ala417=) c.8370+124101A= (n.8370+124101A=) | |
2 | g.108897147A>C | CA428204187 | EDAR,RANBP2 | c.1107T>G (p.Ala369=) c.1203T>G (p.Ala401=) c.1254T>G (p.Ala418=) c.1158T>G (p.Ala386=) c.534T>G (p.Ala178=) c.1347T>G (p.Ala449=) c.1251T>G (p.Ala417=) c.8370+124101A>C (n.8370+124101A>C) | |
2 | g.108897147A>G | CA428204188 | EDAR,RANBP2 | c.1107T>C (p.Ala369=) c.1203T>C (p.Ala401=) c.1254T>C (p.Ala418=) c.1158T>C (p.Ala386=) c.534T>C (p.Ala178=) c.1347T>C (p.Ala449=) c.1251T>C (p.Ala417=) c.8370+124101A>G (n.8370+124101A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897147A>T | CA428204189 | EDAR,RANBP2 | c.1107T>A (p.Ala369=) c.1203T>A (p.Ala401=) c.1254T>A (p.Ala418=) c.1158T>A (p.Ala386=) c.534T>A (p.Ala178=) c.1347T>A (p.Ala449=) c.1251T>A (p.Ala417=) c.8370+124101A>T (n.8370+124101A>T) | |
2 | g.108897148G>A | CA348048207 | EDAR,RANBP2 | c.1106C>T (p.Ala369Val) c.1202C>T (p.Ala401Val) c.1253C>T (p.Ala418Val) c.1157C>T (p.Ala386Val) c.533C>T (p.Ala178Val) c.1346C>T (p.Ala449Val) c.1250C>T (p.Ala417Val) c.8370+124102G>A (n.8370+124102G>A) | |
2 | g.108897148G>C | CA348048208 | EDAR,RANBP2 | c.1106C>G (p.Ala369Gly) c.1202C>G (p.Ala401Gly) c.1253C>G (p.Ala418Gly) c.1157C>G (p.Ala386Gly) c.533C>G (p.Ala178Gly) c.1346C>G (p.Ala449Gly) c.1250C>G (p.Ala417Gly) c.8370+124102G>C (n.8370+124102G>C) | |
2 | g.108897148G>T | CA348048209 | EDAR,RANBP2 | c.1106C>A (p.Ala369Asp) c.1202C>A (p.Ala401Asp) c.1253C>A (p.Ala418Asp) c.1157C>A (p.Ala386Asp) c.533C>A (p.Ala178Asp) c.1346C>A (p.Ala449Asp) c.1250C>A (p.Ala417Asp) c.8370+124102G>T (n.8370+124102G>T) | |
2 | g.108897149C>A | CA348048210 | EDAR,RANBP2 | c.1105G>T (p.Ala369Ser) c.1201G>T (p.Ala401Ser) c.1252G>T (p.Ala418Ser) c.1156G>T (p.Ala386Ser) c.532G>T (p.Ala178Ser) c.1345G>T (p.Ala449Ser) c.1249G>T (p.Ala417Ser) c.8370+124103C>A (n.8370+124103C>A) | gnomAD v4 |
2 | g.108897149C= | CA1278354299 | EDAR,RANBP2 | c.1105G= (p.Ala369=) c.1201G= (p.Ala401=) c.1252G= (p.Ala418=) c.1156G= (p.Ala386=) c.532G= (p.Ala178=) c.1345G= (p.Ala449=) c.1249G= (p.Ala417=) c.8370+124103C= (n.8370+124103C=) | |
2 | g.108897149C>G | CA1824816 | EDAR,RANBP2 | c.1105G>C (p.Ala369Pro) c.1201G>C (p.Ala401Pro) c.1252G>C (p.Ala418Pro) c.1156G>C (p.Ala386Pro) c.532G>C (p.Ala178Pro) c.1345G>C (p.Ala449Pro) c.1249G>C (p.Ala417Pro) c.8370+124103C>G (n.8370+124103C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897149C>T | CA348048212 | EDAR,RANBP2 | c.1105G>A (p.Ala369Thr) c.1201G>A (p.Ala401Thr) c.1252G>A (p.Ala418Thr) c.1156G>A (p.Ala386Thr) c.532G>A (p.Ala178Thr) c.1345G>A (p.Ala449Thr) c.1249G>A (p.Ala417Thr) c.8370+124103C>T (n.8370+124103C>T) | gnomAD v4 |
2 | g.108897150C>A | CA348048214 | EDAR,RANBP2 | c.1104G>T (p.Lys368Asn) c.1200G>T (p.Lys400Asn) c.1251G>T (p.Lys417Asn) c.1155G>T (p.Lys385Asn) c.531G>T (p.Lys177Asn) c.1344G>T (p.Lys448Asn) c.1248G>T (p.Lys416Asn) c.8370+124104C>A (n.8370+124104C>A) | |
2 | g.108897150C= | CA1278354300 | EDAR,RANBP2 | c.1104G= (p.Lys368=) c.1200G= (p.Lys400=) c.1251G= (p.Lys417=) c.1155G= (p.Lys385=) c.531G= (p.Lys177=) c.1344G= (p.Lys448=) c.1248G= (p.Lys416=) c.8370+124104C= (n.8370+124104C=) | |
2 | g.108897150C>G | CA348048216 | EDAR,RANBP2 | c.1104G>C (p.Lys368Asn) c.1200G>C (p.Lys400Asn) c.1251G>C (p.Lys417Asn) c.1155G>C (p.Lys385Asn) c.531G>C (p.Lys177Asn) c.1344G>C (p.Lys448Asn) c.1248G>C (p.Lys416Asn) c.8370+124104C>G (n.8370+124104C>G) | |
2 | g.108897150C>T | CA1824817 | EDAR,RANBP2 | c.1104G>A (p.Lys368=) c.1200G>A (p.Lys400=) c.1251G>A (p.Lys417=) c.1155G>A (p.Lys385=) c.531G>A (p.Lys177=) c.1344G>A (p.Lys448=) c.1248G>A (p.Lys416=) c.8370+124104C>T (n.8370+124104C>T) | dbSNP ExAC |
2 | g.108897151T>A | CA348048219 | EDAR,RANBP2 | c.1103A>T (p.Lys368Met) c.1199A>T (p.Lys400Met) c.1250A>T (p.Lys417Met) c.1154A>T (p.Lys385Met) c.530A>T (p.Lys177Met) c.1343A>T (p.Lys448Met) c.1247A>T (p.Lys416Met) c.8370+124105T>A (n.8370+124105T>A) | |
2 | g.108897151T>C | CA348048221 | EDAR,RANBP2 | c.1103A>G (p.Lys368Arg) c.1199A>G (p.Lys400Arg) c.1250A>G (p.Lys417Arg) c.1154A>G (p.Lys385Arg) c.530A>G (p.Lys177Arg) c.1343A>G (p.Lys448Arg) c.1247A>G (p.Lys416Arg) c.8370+124105T>C (n.8370+124105T>C) | |
2 | g.108897151T>G | CA348048222 | EDAR,RANBP2 | c.1103A>C (p.Lys368Thr) c.1199A>C (p.Lys400Thr) c.1250A>C (p.Lys417Thr) c.1154A>C (p.Lys385Thr) c.530A>C (p.Lys177Thr) c.1343A>C (p.Lys448Thr) c.1247A>C (p.Lys416Thr) c.8370+124105T>G (n.8370+124105T>G) | |
2 | g.108897152T>A | CA348048224 | EDAR,RANBP2 | c.1102A>T (p.Lys368Ter) c.1198A>T (p.Lys400Ter) c.1249A>T (p.Lys417Ter) c.1153A>T (p.Lys385Ter) c.529A>T (p.Lys177Ter) c.1342A>T (p.Lys448Ter) c.1246A>T (p.Lys416Ter) c.8370+124106T>A (n.8370+124106T>A) | |
2 | g.108897152T>C | CA348048229 | EDAR,RANBP2 | c.1102A>G (p.Lys368Glu) c.1198A>G (p.Lys400Glu) c.1249A>G (p.Lys417Glu) c.1153A>G (p.Lys385Glu) c.529A>G (p.Lys177Glu) c.1342A>G (p.Lys448Glu) c.1246A>G (p.Lys416Glu) c.8370+124106T>C (n.8370+124106T>C) | |
2 | g.108897152T>G | CA348048226 | EDAR,RANBP2 | c.1102A>C (p.Lys368Gln) c.1198A>C (p.Lys400Gln) c.1249A>C (p.Lys417Gln) c.1153A>C (p.Lys385Gln) c.529A>C (p.Lys177Gln) c.1342A>C (p.Lys448Gln) c.1246A>C (p.Lys416Gln) c.8370+124106T>G (n.8370+124106T>G) | |
2 | g.108897153C>A | CA348048230 | EDAR,RANBP2 | c.1101G>T (p.Glu367Asp) c.1197G>T (p.Glu399Asp) c.1248G>T (p.Glu416Asp) c.1152G>T (p.Glu384Asp) c.528G>T (p.Glu176Asp) c.1341G>T (p.Glu447Asp) c.1245G>T (p.Glu415Asp) c.8370+124107C>A (n.8370+124107C>A) | |
2 | g.108897153C>G | CA348048232 | EDAR,RANBP2 | c.1101G>C (p.Glu367Asp) c.1197G>C (p.Glu399Asp) c.1248G>C (p.Glu416Asp) c.1152G>C (p.Glu384Asp) c.528G>C (p.Glu176Asp) c.1341G>C (p.Glu447Asp) c.1245G>C (p.Glu415Asp) c.8370+124107C>G (n.8370+124107C>G) | |
2 | g.108897153C>T | CA428204191 | EDAR,RANBP2 | c.1101G>A (p.Glu367=) c.1197G>A (p.Glu399=) c.1248G>A (p.Glu416=) c.1152G>A (p.Glu384=) c.528G>A (p.Glu176=) c.1341G>A (p.Glu447=) c.1245G>A (p.Glu415=) c.8370+124107C>T (n.8370+124107C>T) | |
2 | g.108897154T>A | CA348048234 | EDAR,RANBP2 | c.1100A>T (p.Glu367Val) c.1196A>T (p.Glu399Val) c.1247A>T (p.Glu416Val) c.1151A>T (p.Glu384Val) c.527A>T (p.Glu176Val) c.1340A>T (p.Glu447Val) c.1244A>T (p.Glu415Val) c.8370+124108T>A (n.8370+124108T>A) | |
2 | g.108897154T>C | CA348048236 | EDAR,RANBP2 | c.1100A>G (p.Glu367Gly) c.1196A>G (p.Glu399Gly) c.1247A>G (p.Glu416Gly) c.1151A>G (p.Glu384Gly) c.527A>G (p.Glu176Gly) c.1340A>G (p.Glu447Gly) c.1244A>G (p.Glu415Gly) c.8370+124108T>C (n.8370+124108T>C) | |
2 | g.108897154T>G | CA348048238 | EDAR,RANBP2 | c.1100A>C (p.Glu367Ala) c.1196A>C (p.Glu399Ala) c.1247A>C (p.Glu416Ala) c.1151A>C (p.Glu384Ala) c.527A>C (p.Glu176Ala) c.1340A>C (p.Glu447Ala) c.1244A>C (p.Glu415Ala) c.8370+124108T>G (n.8370+124108T>G) | |
2 | g.108897155C>A | CA348048240 | EDAR,RANBP2 | c.1099G>T (p.Glu367Ter) c.1195G>T (p.Glu399Ter) c.1246G>T (p.Glu416Ter) c.1150G>T (p.Glu384Ter) c.526G>T (p.Glu176Ter) c.1339G>T (p.Glu447Ter) c.1243G>T (p.Glu415Ter) c.8370+124109C>A (n.8370+124109C>A) | |
2 | g.108897155C= | CA1278354301 | EDAR,RANBP2 | c.1099G= (p.Glu367=) c.1195G= (p.Glu399=) c.1246G= (p.Glu416=) c.1150G= (p.Glu384=) c.526G= (p.Glu176=) c.1339G= (p.Glu447=) c.1243G= (p.Glu415=) c.8370+124109C= (n.8370+124109C=) | |
2 | g.108897155C>G | CA348048242 | EDAR,RANBP2 | c.1099G>C (p.Glu367Gln) c.1195G>C (p.Glu399Gln) c.1246G>C (p.Glu416Gln) c.1150G>C (p.Glu384Gln) c.526G>C (p.Glu176Gln) c.1339G>C (p.Glu447Gln) c.1243G>C (p.Glu415Gln) c.8370+124109C>G (n.8370+124109C>G) | |
2 | g.108897155C>T | CA1824818 | EDAR,RANBP2 | c.1099G>A (p.Glu367Lys) c.1195G>A (p.Glu399Lys) c.1246G>A (p.Glu416Lys) c.1150G>A (p.Glu384Lys) c.526G>A (p.Glu176Lys) c.1339G>A (p.Glu447Lys) c.1243G>A (p.Glu415Lys) c.8370+124109C>T (n.8370+124109C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108897156A>C | CA427910818 | EDAR,RANBP2 | c.1098T>G (p.Ser366=) c.1194T>G (p.Ser398=) c.1245T>G (p.Ser415=) c.1149T>G (p.Ser383=) c.525T>G (p.Ser175=) c.1338T>G (p.Ser446=) c.1242T>G (p.Ser414=) c.8370+124110A>C (n.8370+124110A>C) | |
2 | g.108897156A>G | CA427910819 | EDAR,RANBP2 | c.1098T>C (p.Ser366=) c.1194T>C (p.Ser398=) c.1245T>C (p.Ser415=) c.1149T>C (p.Ser383=) c.525T>C (p.Ser175=) c.1338T>C (p.Ser446=) c.1242T>C (p.Ser414=) c.8370+124110A>G (n.8370+124110A>G) | |
2 | g.108897156A>T | CA427910820 | EDAR,RANBP2 | c.1098T>A (p.Ser366=) c.1194T>A (p.Ser398=) c.1245T>A (p.Ser415=) c.1149T>A (p.Ser383=) c.525T>A (p.Ser175=) c.1338T>A (p.Ser446=) c.1242T>A (p.Ser414=) c.8370+124110A>T (n.8370+124110A>T) | |
2 | g.108897158_108897159del | CA2580611686 | EDAR,RANBP2 | c.1097_1098del (p.Ser366Ter) c.1193_1194del (p.Ser398Ter) c.1244_1245del (p.Ser415Ter) c.1148_1149del (p.Ser383Ter) c.524_525del (p.Ser175Ter) c.1337_1338del (p.Ser446Ter) c.1241_1242del (p.Ser414Ter) c.8370+124112_8370+124113del (n.8370+124112_8370+124113del) | ClinVar dbSNP |
2 | g.108897157G>A | CA348048245 | EDAR,RANBP2 | c.1097C>T (p.Ser366Phe) c.1193C>T (p.Ser398Phe) c.1244C>T (p.Ser415Phe) c.1148C>T (p.Ser383Phe) c.524C>T (p.Ser175Phe) c.1337C>T (p.Ser446Phe) c.1241C>T (p.Ser414Phe) c.8370+124111G>A (n.8370+124111G>A) | dbSNP COSMIC COSMIC |
2 | g.108897157G>C | CA348048248 | EDAR,RANBP2 | c.1097C>G (p.Ser366Cys) c.1193C>G (p.Ser398Cys) c.1244C>G (p.Ser415Cys) c.1148C>G (p.Ser383Cys) c.524C>G (p.Ser175Cys) c.1337C>G (p.Ser446Cys) c.1241C>G (p.Ser414Cys) c.8370+124111G>C (n.8370+124111G>C) | |
2 | g.108897157G= | CA1278354302 | EDAR,RANBP2 | c.1097C= (p.Ser366=) c.1193C= (p.Ser398=) c.1244C= (p.Ser415=) c.1148C= (p.Ser383=) c.524C= (p.Ser175=) c.1337C= (p.Ser446=) c.1241C= (p.Ser414=) c.8370+124111G= (n.8370+124111G=) | |
2 | g.108897157G>T | CA348048250 | EDAR,RANBP2 | c.1097C>A (p.Ser366Tyr) c.1193C>A (p.Ser398Tyr) c.1244C>A (p.Ser415Tyr) c.1148C>A (p.Ser383Tyr) c.524C>A (p.Ser175Tyr) c.1337C>A (p.Ser446Tyr) c.1241C>A (p.Ser414Tyr) c.8370+124111G>T (n.8370+124111G>T) | |
2 | g.108897158A>C | CA348048252 | EDAR,RANBP2 | c.1096T>G (p.Ser366Ala) c.1192T>G (p.Ser398Ala) c.1243T>G (p.Ser415Ala) c.1147T>G (p.Ser383Ala) c.523T>G (p.Ser175Ala) c.1336T>G (p.Ser446Ala) c.1240T>G (p.Ser414Ala) c.8370+124112A>C (n.8370+124112A>C) | |
2 | g.108897158A>G | CA348048253 | EDAR,RANBP2 | c.1096T>C (p.Ser366Pro) c.1192T>C (p.Ser398Pro) c.1243T>C (p.Ser415Pro) c.1147T>C (p.Ser383Pro) c.523T>C (p.Ser175Pro) c.1336T>C (p.Ser446Pro) c.1240T>C (p.Ser414Pro) c.8370+124112A>G (n.8370+124112A>G) | gnomAD v4 |
2 | g.108897158A>T | CA348048255 | EDAR,RANBP2 | c.1096T>A (p.Ser366Thr) c.1192T>A (p.Ser398Thr) c.1243T>A (p.Ser415Thr) c.1147T>A (p.Ser383Thr) c.523T>A (p.Ser175Thr) c.1336T>A (p.Ser446Thr) c.1240T>A (p.Ser414Thr) c.8370+124112A>T (n.8370+124112A>T) | |
2 | g.108897159G>A | CA427910823 | EDAR,RANBP2 | c.1095C>T (p.Asn365=) c.1191C>T (p.Asn397=) c.1242C>T (p.Asn414=) c.1146C>T (p.Asn382=) c.522C>T (p.Asn174=) c.1335C>T (p.Asn445=) c.1239C>T (p.Asn413=) c.8370+124113G>A (n.8370+124113G>A) | |
2 | g.108897159G>C | CA348048257 | EDAR,RANBP2 | c.1095C>G (p.Asn365Lys) c.1191C>G (p.Asn397Lys) c.1242C>G (p.Asn414Lys) c.1146C>G (p.Asn382Lys) c.522C>G (p.Asn174Lys) c.1335C>G (p.Asn445Lys) c.1239C>G (p.Asn413Lys) c.8370+124113G>C (n.8370+124113G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108897159G= | CA1278354303 | EDAR,RANBP2 | c.1095C= (p.Asn365=) c.1191C= (p.Asn397=) c.1242C= (p.Asn414=) c.1146C= (p.Asn382=) c.522C= (p.Asn174=) c.1335C= (p.Asn445=) c.1239C= (p.Asn413=) c.8370+124113G= (n.8370+124113G=) | |
2 | g.108897159G>T | CA348048259 | EDAR,RANBP2 | c.1095C>A (p.Asn365Lys) c.1191C>A (p.Asn397Lys) c.1242C>A (p.Asn414Lys) c.1146C>A (p.Asn382Lys) c.522C>A (p.Asn174Lys) c.1335C>A (p.Asn445Lys) c.1239C>A (p.Asn413Lys) c.8370+124113G>T (n.8370+124113G>T) | |
2 | g.108897160T>A | CA348048260 | EDAR,RANBP2 | c.1094A>T (p.Asn365Ile) c.1190A>T (p.Asn397Ile) c.1241A>T (p.Asn414Ile) c.1145A>T (p.Asn382Ile) c.521A>T (p.Asn174Ile) c.1334A>T (p.Asn445Ile) c.1238A>T (p.Asn413Ile) c.8370+124114T>A (n.8370+124114T>A) | |
2 | g.108897160T>C | CA348048262 | EDAR,RANBP2 | c.1094A>G (p.Asn365Ser) c.1190A>G (p.Asn397Ser) c.1241A>G (p.Asn414Ser) c.1145A>G (p.Asn382Ser) c.521A>G (p.Asn174Ser) c.1334A>G (p.Asn445Ser) c.1238A>G (p.Asn413Ser) c.8370+124114T>C (n.8370+124114T>C) | ClinVar dbSNP COSMIC COSMIC |
2 | g.108897160T>G | CA348048263 | EDAR,RANBP2 | c.1094A>C (p.Asn365Thr) c.1190A>C (p.Asn397Thr) c.1241A>C (p.Asn414Thr) c.1145A>C (p.Asn382Thr) c.521A>C (p.Asn174Thr) c.1334A>C (p.Asn445Thr) c.1238A>C (p.Asn413Thr) c.8370+124114T>G (n.8370+124114T>G) | |
2 | g.108897160T= | CA1278354304 | EDAR,RANBP2 | c.1094A= (p.Asn365=) c.1190A= (p.Asn397=) c.1241A= (p.Asn414=) c.1145A= (p.Asn382=) c.521A= (p.Asn174=) c.1334A= (p.Asn445=) c.1238A= (p.Asn413=) c.8370+124114T= (n.8370+124114T=) | |
2 | g.108897161T>A | CA348048265 | EDAR,RANBP2 | c.1093A>T (p.Asn365Tyr) c.1189A>T (p.Asn397Tyr) c.1240A>T (p.Asn414Tyr) c.1144A>T (p.Asn382Tyr) c.520A>T (p.Asn174Tyr) c.1333A>T (p.Asn445Tyr) c.1237A>T (p.Asn413Tyr) c.8370+124115T>A (n.8370+124115T>A) | |
2 | g.108897161T>C | CA348048267 | EDAR,RANBP2 | c.1093A>G (p.Asn365Asp) c.1189A>G (p.Asn397Asp) c.1240A>G (p.Asn414Asp) c.1144A>G (p.Asn382Asp) c.520A>G (p.Asn174Asp) c.1333A>G (p.Asn445Asp) c.1237A>G (p.Asn413Asp) c.8370+124115T>C (n.8370+124115T>C) | |
2 | g.108897161T>G | CA348048269 | EDAR,RANBP2 | c.1093A>C (p.Asn365His) c.1189A>C (p.Asn397His) c.1240A>C (p.Asn414His) c.1144A>C (p.Asn382His) c.520A>C (p.Asn174His) c.1333A>C (p.Asn445His) c.1237A>C (p.Asn413His) c.8370+124115T>G (n.8370+124115T>G) | |
2 | g.108897161_108897177dup | CA2832528871 | EDAR,RANBP2 | c.1077_1093dup (p.Asn365SerfsTer13) c.1173_1189dup (p.Asn397SerfsTer13) c.1224_1240dup (p.Asn414SerfsTer13) c.1128_1144dup (p.Asn382SerfsTer13) c.504_520dup (p.Asn174SerfsTer13) c.1317_1333dup (p.Asn445SerfsTer13) c.1221_1237dup (p.Asn413SerfsTer13) c.8370+124115_8370+124131dup (n.8370+124115_8370+124131dup) | |
2 | g.108897162G>A | CA427910826 | EDAR,RANBP2 | c.1092C>T (p.Tyr364=) c.1188C>T (p.Tyr396=) c.1239C>T (p.Tyr413=) c.1143C>T (p.Tyr381=) c.519C>T (p.Tyr173=) c.1332C>T (p.Tyr444=) c.1236C>T (p.Tyr412=) c.8370+124116G>A (n.8370+124116G>A) | |
2 | g.108897162G>C | CA348048273 | EDAR,RANBP2 | c.1092C>G (p.Tyr364Ter) c.1188C>G (p.Tyr396Ter) c.1239C>G (p.Tyr413Ter) c.1143C>G (p.Tyr381Ter) c.519C>G (p.Tyr173Ter) c.1332C>G (p.Tyr444Ter) c.1236C>G (p.Tyr412Ter) c.8370+124116G>C (n.8370+124116G>C) | |
2 | g.108897162G>T | CA348048275 | EDAR,RANBP2 | c.1092C>A (p.Tyr364Ter) c.1188C>A (p.Tyr396Ter) c.1239C>A (p.Tyr413Ter) c.1143C>A (p.Tyr381Ter) c.519C>A (p.Tyr173Ter) c.1332C>A (p.Tyr444Ter) c.1236C>A (p.Tyr412Ter) c.8370+124116G>T (n.8370+124116G>T) | |
2 | g.108897163T>A | CA348048278 | EDAR,RANBP2 | c.1091A>T (p.Tyr364Phe) c.1187A>T (p.Tyr396Phe) c.1238A>T (p.Tyr413Phe) c.1142A>T (p.Tyr381Phe) c.518A>T (p.Tyr173Phe) c.1331A>T (p.Tyr444Phe) c.1235A>T (p.Tyr412Phe) c.8370+124117T>A (n.8370+124117T>A) | dbSNP gnomAD v2 |
2 | g.108897163T>C | CA348048279 | EDAR,RANBP2 | c.1091A>G (p.Tyr364Cys) c.1187A>G (p.Tyr396Cys) c.1238A>G (p.Tyr413Cys) c.1142A>G (p.Tyr381Cys) c.518A>G (p.Tyr173Cys) c.1331A>G (p.Tyr444Cys) c.1235A>G (p.Tyr412Cys) c.8370+124117T>C (n.8370+124117T>C) | |
2 | g.108897163T>G | CA348048281 | EDAR,RANBP2 | c.1091A>C (p.Tyr364Ser) c.1187A>C (p.Tyr396Ser) c.1238A>C (p.Tyr413Ser) c.1142A>C (p.Tyr381Ser) c.518A>C (p.Tyr173Ser) c.1331A>C (p.Tyr444Ser) c.1235A>C (p.Tyr412Ser) c.8370+124117T>G (n.8370+124117T>G) | |
2 | g.108897163T= | CA1278354305 | EDAR,RANBP2 | c.1091A= (p.Tyr364=) c.1187A= (p.Tyr396=) c.1238A= (p.Tyr413=) c.1142A= (p.Tyr381=) c.518A= (p.Tyr173=) c.1331A= (p.Tyr444=) c.1235A= (p.Tyr412=) c.8370+124117T= (n.8370+124117T=) | |
2 | g.108897164A>C | CA348048285 | EDAR,RANBP2 | c.1090T>G (p.Tyr364Asp) c.1186T>G (p.Tyr396Asp) c.1237T>G (p.Tyr413Asp) c.1141T>G (p.Tyr381Asp) c.517T>G (p.Tyr173Asp) c.1330T>G (p.Tyr444Asp) c.1234T>G (p.Tyr412Asp) c.8370+124118A>C (n.8370+124118A>C) | |
2 | g.108897164A>G | CA348048286 | EDAR,RANBP2 | c.1090T>C (p.Tyr364His) c.1186T>C (p.Tyr396His) c.1237T>C (p.Tyr413His) c.1141T>C (p.Tyr381His) c.517T>C (p.Tyr173His) c.1330T>C (p.Tyr444His) c.1234T>C (p.Tyr412His) c.8370+124118A>G (n.8370+124118A>G) | COSMIC COSMIC |
2 | g.108897164A>T | CA348048283 | EDAR,RANBP2 | c.1090T>A (p.Tyr364Asn) c.1186T>A (p.Tyr396Asn) c.1237T>A (p.Tyr413Asn) c.1141T>A (p.Tyr381Asn) c.517T>A (p.Tyr173Asn) c.1330T>A (p.Tyr444Asn) c.1234T>A (p.Tyr412Asn) c.8370+124118A>T (n.8370+124118A>T) | |
2 | g.108897164_108897165delinsAC | CA1278354306 | EDAR,RANBP2 | c.1089_1090delinsGT (p.Thr363=) c.1185_1186delinsGT (p.Thr395=) c.1236_1237delinsGT (p.Thr412=) c.1140_1141delinsGT (p.Thr380=) c.516_517delinsGT (p.Thr172=) c.1329_1330delinsGT (p.Thr443=) c.1233_1234delinsGT (p.Thr411=) c.8370+124118_8370+124119delinsAC (n.8370+124118_8370+124119delinsAC) | |
2 | g.108897165del | CA891842936 | EDAR,RANBP2 | c.1089del (p.Tyr364ThrfsTer8) c.1185del (p.Tyr396ThrfsTer8) c.1236del (p.Tyr413ThrfsTer8) c.1140del (p.Tyr381ThrfsTer8) c.516del (p.Tyr173ThrfsTer8) c.1329del (p.Tyr444ThrfsTer8) c.1233del (p.Tyr412ThrfsTer8) c.8370+124119del (n.8370+124119del) | ClinVar dbSNP |
2 | g.108897165C>A | CA427910828 | EDAR,RANBP2 | c.1089G>T (p.Thr363=) c.1185G>T (p.Thr395=) c.1236G>T (p.Thr412=) c.1140G>T (p.Thr380=) c.516G>T (p.Thr172=) c.1329G>T (p.Thr443=) c.1233G>T (p.Thr411=) c.8370+124119C>A (n.8370+124119C>A) | |
2 | g.108897165C= | CA1278354307 | EDAR,RANBP2 | c.1089G= (p.Thr363=) c.1185G= (p.Thr395=) c.1236G= (p.Thr412=) c.1140G= (p.Thr380=) c.516G= (p.Thr172=) c.1329G= (p.Thr443=) c.1233G= (p.Thr411=) c.8370+124119C= (n.8370+124119C=) | |
2 | g.108897165C>G | CA427910829 | EDAR,RANBP2 | c.1089G>C (p.Thr363=) c.1185G>C (p.Thr395=) c.1236G>C (p.Thr412=) c.1140G>C (p.Thr380=) c.516G>C (p.Thr172=) c.1329G>C (p.Thr443=) c.1233G>C (p.Thr411=) c.8370+124119C>G (n.8370+124119C>G) | |
2 | g.108897165C>T | CA1824819 | EDAR,RANBP2 | c.1089G>A (p.Thr363=) c.1185G>A (p.Thr395=) c.1236G>A (p.Thr412=) c.1140G>A (p.Thr380=) c.516G>A (p.Thr172=) c.1329G>A (p.Thr443=) c.1233G>A (p.Thr411=) c.8370+124119C>T (n.8370+124119C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897165_108897166delinsCG | CA1278354308 | EDAR,RANBP2 | c.1088_1089delinsCG (p.Thr363=) c.1184_1185delinsCG (p.Thr395=) c.1235_1236delinsCG (p.Thr412=) c.1139_1140delinsCG (p.Thr380=) c.515_516delinsCG (p.Thr172=) c.1328_1329delinsCG (p.Thr443=) c.1232_1233delinsCG (p.Thr411=) c.8370+124119_8370+124120delinsCG (n.8370+124119_8370+124120delinsCG) | |
2 | g.108897166del | CA915944092 | EDAR,RANBP2 | c.1088del (p.Thr363SerfsTer9) c.1184del (p.Thr395SerfsTer9) c.1235del (p.Thr412SerfsTer9) c.1139del (p.Thr380SerfsTer9) c.515del (p.Thr172SerfsTer9) c.1328del (p.Thr443SerfsTer9) c.1232del (p.Thr411SerfsTer9) c.8370+124120del (n.8370+124120del) | ClinVar dbSNP |
2 | g.108897166G>A | CA1824820 | EDAR,RANBP2 | c.1088C>T (p.Thr363Met) c.1184C>T (p.Thr395Met) c.1235C>T (p.Thr412Met) c.1139C>T (p.Thr380Met) c.515C>T (p.Thr172Met) c.1328C>T (p.Thr443Met) c.1232C>T (p.Thr411Met) c.8370+124120G>A (n.8370+124120G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897166G>C | CA348048290 | EDAR,RANBP2 | c.1088C>G (p.Thr363Arg) c.1184C>G (p.Thr395Arg) c.1235C>G (p.Thr412Arg) c.1139C>G (p.Thr380Arg) c.515C>G (p.Thr172Arg) c.1328C>G (p.Thr443Arg) c.1232C>G (p.Thr411Arg) c.8370+124120G>C (n.8370+124120G>C) | |
2 | g.108897166G= | CA1278354309 | EDAR,RANBP2 | c.1088C= (p.Thr363=) c.1184C= (p.Thr395=) c.1235C= (p.Thr412=) c.1139C= (p.Thr380=) c.515C= (p.Thr172=) c.1328C= (p.Thr443=) c.1232C= (p.Thr411=) c.8370+124120G= (n.8370+124120G=) | |
2 | g.108897166G>T | CA1824821 | EDAR,RANBP2 | c.1088C>A (p.Thr363Lys) c.1184C>A (p.Thr395Lys) c.1235C>A (p.Thr412Lys) c.1139C>A (p.Thr380Lys) c.515C>A (p.Thr172Lys) c.1328C>A (p.Thr443Lys) c.1232C>A (p.Thr411Lys) c.8370+124120G>T (n.8370+124120G>T) | dbSNP ExAC gnomAD v2 |
2 | g.108897167T>A | CA348048293 | EDAR,RANBP2 | c.1087A>T (p.Thr363Ser) c.1183A>T (p.Thr395Ser) c.1234A>T (p.Thr412Ser) c.1138A>T (p.Thr380Ser) c.514A>T (p.Thr172Ser) c.1327A>T (p.Thr443Ser) c.1231A>T (p.Thr411Ser) c.8370+124121T>A (n.8370+124121T>A) | |
2 | g.108897167T>C | CA348048294 | EDAR,RANBP2 | c.1087A>G (p.Thr363Ala) c.1183A>G (p.Thr395Ala) c.1234A>G (p.Thr412Ala) c.1138A>G (p.Thr380Ala) c.514A>G (p.Thr172Ala) c.1327A>G (p.Thr443Ala) c.1231A>G (p.Thr411Ala) c.8370+124121T>C (n.8370+124121T>C) | |
2 | g.108897167T>G | CA348048296 | EDAR,RANBP2 | c.1087A>C (p.Thr363Pro) c.1183A>C (p.Thr395Pro) c.1234A>C (p.Thr412Pro) c.1138A>C (p.Thr380Pro) c.514A>C (p.Thr172Pro) c.1327A>C (p.Thr443Pro) c.1231A>C (p.Thr411Pro) c.8370+124121T>G (n.8370+124121T>G) | |
2 | g.108897168G>A | CA427910835 | EDAR,RANBP2 | c.1086C>T (p.Ser362=) c.1182C>T (p.Ser394=) c.1233C>T (p.Ser411=) c.1137C>T (p.Ser379=) c.513C>T (p.Ser171=) c.1326C>T (p.Ser442=) c.1230C>T (p.Ser410=) c.8370+124122G>A (n.8370+124122G>A) | dbSNP |
2 | g.108897168G>C | CA1824822 | EDAR,RANBP2 | c.1086C>G (p.Ser362=) c.1182C>G (p.Ser394=) c.1233C>G (p.Ser411=) c.1137C>G (p.Ser379=) c.513C>G (p.Ser171=) c.1326C>G (p.Ser442=) c.1230C>G (p.Ser410=) c.8370+124122G>C (n.8370+124122G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897168G= | CA1278354310 | EDAR,RANBP2 | c.1086C= (p.Ser362=) c.1182C= (p.Ser394=) c.1233C= (p.Ser411=) c.1137C= (p.Ser379=) c.513C= (p.Ser171=) c.1326C= (p.Ser442=) c.1230C= (p.Ser410=) c.8370+124122G= (n.8370+124122G=) | |
2 | g.108897168G>T | CA427910837 | EDAR,RANBP2 | c.1086C>A (p.Ser362=) c.1182C>A (p.Ser394=) c.1233C>A (p.Ser411=) c.1137C>A (p.Ser379=) c.513C>A (p.Ser171=) c.1326C>A (p.Ser442=) c.1230C>A (p.Ser410=) c.8370+124122G>T (n.8370+124122G>T) | |
2 | g.108897169G>A | CA348048299 | EDAR,RANBP2 | c.1085C>T (p.Ser362Phe) c.1181C>T (p.Ser394Phe) c.1232C>T (p.Ser411Phe) c.1136C>T (p.Ser379Phe) c.512C>T (p.Ser171Phe) c.1325C>T (p.Ser442Phe) c.1229C>T (p.Ser410Phe) c.8370+124123G>A (n.8370+124123G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897169G>C | CA348048301 | EDAR,RANBP2 | c.1085C>G (p.Ser362Cys) c.1181C>G (p.Ser394Cys) c.1232C>G (p.Ser411Cys) c.1136C>G (p.Ser379Cys) c.512C>G (p.Ser171Cys) c.1325C>G (p.Ser442Cys) c.1229C>G (p.Ser410Cys) c.8370+124123G>C (n.8370+124123G>C) | |
2 | g.108897169G= | CA1278354311 | EDAR,RANBP2 | c.1085C= (p.Ser362=) c.1181C= (p.Ser394=) c.1232C= (p.Ser411=) c.1136C= (p.Ser379=) c.512C= (p.Ser171=) c.1325C= (p.Ser442=) c.1229C= (p.Ser410=) c.8370+124123G= (n.8370+124123G=) | |
2 | g.108897169G>T | CA348048303 | EDAR,RANBP2 | c.1085C>A (p.Ser362Tyr) c.1181C>A (p.Ser394Tyr) c.1232C>A (p.Ser411Tyr) c.1136C>A (p.Ser379Tyr) c.512C>A (p.Ser171Tyr) c.1325C>A (p.Ser442Tyr) c.1229C>A (p.Ser410Tyr) c.8370+124123G>T (n.8370+124123G>T) | |
2 | g.108897170A>C | CA348048306 | EDAR,RANBP2 | c.1084T>G (p.Ser362Ala) c.1180T>G (p.Ser394Ala) c.1231T>G (p.Ser411Ala) c.1135T>G (p.Ser379Ala) c.511T>G (p.Ser171Ala) c.1324T>G (p.Ser442Ala) c.1228T>G (p.Ser410Ala) c.8370+124124A>C (n.8370+124124A>C) | |
2 | g.108897170A>G | CA348048307 | EDAR,RANBP2 | c.1084T>C (p.Ser362Pro) c.1180T>C (p.Ser394Pro) c.1231T>C (p.Ser411Pro) c.1135T>C (p.Ser379Pro) c.511T>C (p.Ser171Pro) c.1324T>C (p.Ser442Pro) c.1228T>C (p.Ser410Pro) c.8370+124124A>G (n.8370+124124A>G) | |
2 | g.108897170A>T | CA348048305 | EDAR,RANBP2 | c.1084T>A (p.Ser362Thr) c.1180T>A (p.Ser394Thr) c.1231T>A (p.Ser411Thr) c.1135T>A (p.Ser379Thr) c.511T>A (p.Ser171Thr) c.1324T>A (p.Ser442Thr) c.1228T>A (p.Ser410Thr) c.8370+124124A>T (n.8370+124124A>T) | |
2 | g.108897171G>A | CA427910838 | EDAR,RANBP2 | c.1083C>T (p.Ser361=) c.1179C>T (p.Ser393=) c.1230C>T (p.Ser410=) c.1134C>T (p.Ser378=) c.510C>T (p.Ser170=) c.1323C>T (p.Ser441=) c.1227C>T (p.Ser409=) c.8370+124125G>A (n.8370+124125G>A) | gnomAD v4 |
2 | g.108897171G>C | CA348048308 | EDAR,RANBP2 | c.1083C>G (p.Ser361Arg) c.1179C>G (p.Ser393Arg) c.1230C>G (p.Ser410Arg) c.1134C>G (p.Ser378Arg) c.510C>G (p.Ser170Arg) c.1323C>G (p.Ser441Arg) c.1227C>G (p.Ser409Arg) c.8370+124125G>C (n.8370+124125G>C) | |
2 | g.108897171G>T | CA348048309 | EDAR,RANBP2 | c.1083C>A (p.Ser361Arg) c.1179C>A (p.Ser393Arg) c.1230C>A (p.Ser410Arg) c.1134C>A (p.Ser378Arg) c.510C>A (p.Ser170Arg) c.1323C>A (p.Ser441Arg) c.1227C>A (p.Ser409Arg) c.8370+124125G>T (n.8370+124125G>T) | |
2 | g.108897172del | CA2586969742 | EDAR,RANBP2 | c.1082del (p.Ser361ThrfsTer11) c.1178del (p.Ser393ThrfsTer11) c.1229del (p.Ser410ThrfsTer11) c.1133del (p.Ser378ThrfsTer11) c.509del (p.Ser170ThrfsTer11) c.1322del (p.Ser441ThrfsTer11) c.1226del (p.Ser409ThrfsTer11) c.8370+124126del (n.8370+124126del) | |
2 | g.108897172C>A | CA348048311 | EDAR,RANBP2 | c.1082G>T (p.Ser361Ile) c.1178G>T (p.Ser393Ile) c.1229G>T (p.Ser410Ile) c.1133G>T (p.Ser378Ile) c.509G>T (p.Ser170Ile) c.1322G>T (p.Ser441Ile) c.1226G>T (p.Ser409Ile) c.8370+124126C>A (n.8370+124126C>A) | |
2 | g.108897172C>G | CA348048314 | EDAR,RANBP2 | c.1082G>C (p.Ser361Thr) c.1178G>C (p.Ser393Thr) c.1229G>C (p.Ser410Thr) c.1133G>C (p.Ser378Thr) c.509G>C (p.Ser170Thr) c.1322G>C (p.Ser441Thr) c.1226G>C (p.Ser409Thr) c.8370+124126C>G (n.8370+124126C>G) | |
2 | g.108897172C>T | CA348048315 | EDAR,RANBP2 | c.1082G>A (p.Ser361Asn) c.1178G>A (p.Ser393Asn) c.1229G>A (p.Ser410Asn) c.1133G>A (p.Ser378Asn) c.509G>A (p.Ser170Asn) c.1322G>A (p.Ser441Asn) c.1226G>A (p.Ser409Asn) c.8370+124126C>T (n.8370+124126C>T) |