Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.108897069C>A | CA348048039 | EDAR,RANBP2 | c.1185G>T (p.Met395Ile) c.1281G>T (p.Met427Ile) c.1332G>T (p.Met444Ile) c.1236G>T (p.Met412Ile) c.612G>T (p.Met204Ile) c.1425G>T (p.Met475Ile) c.1329G>T (p.Met443Ile) c.8370+124023C>A (n.8370+124023C>A) | |
2 | g.108897069C>G | CA348048040 | EDAR,RANBP2 | c.1185G>C (p.Met395Ile) c.1281G>C (p.Met427Ile) c.1332G>C (p.Met444Ile) c.1236G>C (p.Met412Ile) c.612G>C (p.Met204Ile) c.1425G>C (p.Met475Ile) c.1329G>C (p.Met443Ile) c.8370+124023C>G (n.8370+124023C>G) | |
2 | g.108897069C>T | CA348048041 | EDAR,RANBP2 | c.1185G>A (p.Met395Ile) c.1281G>A (p.Met427Ile) c.1332G>A (p.Met444Ile) c.1236G>A (p.Met412Ile) c.612G>A (p.Met204Ile) c.1425G>A (p.Met475Ile) c.1329G>A (p.Met443Ile) c.8370+124023C>T (n.8370+124023C>T) | |
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.108897070A>C | CA348048043 | EDAR,RANBP2 | c.1184T>G (p.Met395Arg) c.1280T>G (p.Met427Arg) c.1331T>G (p.Met444Arg) c.1235T>G (p.Met412Arg) c.611T>G (p.Met204Arg) c.1424T>G (p.Met475Arg) c.1328T>G (p.Met443Arg) c.8370+124024A>C (n.8370+124024A>C) | |
2 | g.108897070A>G | CA348048044 | EDAR,RANBP2 | c.1184T>C (p.Met395Thr) c.1280T>C (p.Met427Thr) c.1331T>C (p.Met444Thr) c.1235T>C (p.Met412Thr) c.611T>C (p.Met204Thr) c.1424T>C (p.Met475Thr) c.1328T>C (p.Met443Thr) c.8370+124024A>G (n.8370+124024A>G) | gnomAD v4 |
2 | g.108897070A>T | CA348048042 | EDAR,RANBP2 | c.1184T>A (p.Met395Lys) c.1280T>A (p.Met427Lys) c.1331T>A (p.Met444Lys) c.1235T>A (p.Met412Lys) c.611T>A (p.Met204Lys) c.1424T>A (p.Met475Lys) c.1328T>A (p.Met443Lys) c.8370+124024A>T (n.8370+124024A>T) | |
2 | g.108897071T>A | CA348048045 | EDAR,RANBP2 | c.1183A>T (p.Met395Leu) c.1279A>T (p.Met427Leu) c.1330A>T (p.Met444Leu) c.1234A>T (p.Met412Leu) c.610A>T (p.Met204Leu) c.1423A>T (p.Met475Leu) c.1327A>T (p.Met443Leu) c.8370+124025T>A (n.8370+124025T>A) | |
2 | g.108897071T>C | CA10610572 | EDAR,RANBP2 | c.1183A>G (p.Met395Val) c.1279A>G (p.Met427Val) c.1330A>G (p.Met444Val) c.1234A>G (p.Met412Val) c.610A>G (p.Met204Val) c.1423A>G (p.Met475Val) c.1327A>G (p.Met443Val) c.8370+124025T>C (n.8370+124025T>C) | ClinVar dbSNP gnomAD v4 |
2 | g.108897071T>G | CA348048046 | EDAR,RANBP2 | c.1183A>C (p.Met395Leu) c.1279A>C (p.Met427Leu) c.1330A>C (p.Met444Leu) c.1234A>C (p.Met412Leu) c.610A>C (p.Met204Leu) c.1423A>C (p.Met475Leu) c.1327A>C (p.Met443Leu) c.8370+124025T>G (n.8370+124025T>G) | |
2 | g.108897071T= | CA1278354258 | EDAR,RANBP2 | c.1183A= (p.Met395=) c.1279A= (p.Met427=) c.1330A= (p.Met444=) c.1234A= (p.Met412=) c.610A= (p.Met204=) c.1423A= (p.Met475=) c.1327A= (p.Met443=) c.8370+124025T= (n.8370+124025T=) | |
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 |