| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.30307936_30311263del | CA658653869 | ClinVar | ||
| X | g.30308173G>C | CA2693383147 | NR0B1 | c.1168+23C>G (n.1168+23C>G) c.283+23C>G (n.283+23C>G) | gnomAD v4 |
| X | g.30308174C>A | CA2693383149 | NR0B1 | c.1168+22G>T (n.1168+22G>T) c.283+22G>T (n.283+22G>T) | gnomAD v4 |
| X | g.30308174C= | CA2422040351 | NR0B1 | c.1168+22G= (n.1168+22G=) c.283+22G= (n.283+22G=) | |
| X | g.30308174C>G | CA10376304 | NR0B1 | c.1168+22G>C (n.1168+22G>C) c.283+22G>C (n.283+22G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308174C>T | CA2693383148 | NR0B1 | c.1168+22G>A (n.1168+22G>A) c.283+22G>A (n.283+22G>A) | gnomAD v4 |
| X | g.30308175G>A | CA2693383150 | NR0B1 | c.1168+21C>T (n.1168+21C>T) c.283+21C>T (n.283+21C>T) | gnomAD v4 |
| X | g.30308175G= | CA2422040354 | NR0B1 | c.1168+21C= (n.1168+21C=) c.283+21C= (n.283+21C=) | |
| X | g.30308175G>T | CA2422040353 | NR0B1 | c.1168+21C>A (n.1168+21C>A) c.283+21C>A (n.283+21C>A) | dbSNP gnomAD v4 |
| X | g.30308175_30308195delinsGCCTAAGGCCAGTACCCTTAC | CA2422040352 | NR0B1 | c.1168+1_1168+21delinsGTAAGGGTACTGGCCTTAGGC (n.1168+1_1168+21delinsGTAAGGGTACTGGCCTTAGGC) c.283+1_283+21delinsGTAAGGGTACTGGCCTTAGGC (n.283+1_283+21delinsGTAAGGGTACTGGCCTTAGGC) | |
| X | g.30308178_30308197del | CA658684286 | NR0B1 | c.1168+1_1168+20del c.283+1_283+20del | ClinVar dbSNP |
| X | g.30308177C= | CA2422040355 | NR0B1 | c.1168+19G= (n.1168+19G=) c.283+19G= (n.283+19G=) | |
| X | g.30308177C>T | CA2422040356 | NR0B1 | c.1168+19G>A (n.1168+19G>A) c.283+19G>A (n.283+19G>A) | dbSNP gnomAD v4 |
| X | g.30308178T>C | CA2693383151 | NR0B1 | c.1168+18A>G (n.1168+18A>G) c.283+18A>G (n.283+18A>G) | gnomAD v4 |
| X | g.30308179A= | CA2422040357 | NR0B1 | c.1168+17T= (n.1168+17T=) c.283+17T= (n.283+17T=) | |
| X | g.30308179A>G | CA640975162 | NR0B1 | c.1168+17T>C (n.1168+17T>C) c.283+17T>C (n.283+17T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308181G>C | CA2579577213 | NR0B1 | c.1168+15C>G (n.1168+15C>G) c.283+15C>G (n.283+15C>G) | gnomAD v4 |
| X | g.30308181G>T | CA2693383152 | NR0B1 | c.1168+15C>A (n.1168+15C>A) c.283+15C>A (n.283+15C>A) | gnomAD v4 |
| X | g.30308182G= | CA2422040358 | NR0B1 | c.1168+14C= (n.1168+14C=) c.283+14C= (n.283+14C=) | |
| X | g.30308182G>T | CA2693383153 | NR0B1 | c.1168+14C>A (n.1168+14C>A) c.283+14C>A (n.283+14C>A) | gnomAD v4 |
| X | g.30308183C>A | CA2422040360 | NR0B1 | c.1168+13G>T (n.1168+13G>T) c.283+13G>T (n.283+13G>T) | dbSNP |
| X | g.30308183C= | CA2422040359 | NR0B1 | c.1168+13G= (n.1168+13G=) c.283+13G= (n.283+13G=) | |
| X | g.30308184dup | CA10376305 | NR0B1 | c.1168+13dup (n.1168+13dup) c.283+13dup (n.283+13dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308186G>C | CA10376306 | NR0B1 | c.1168+10C>G (n.1168+10C>G) c.283+10C>G (n.283+10C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308186G= | CA2422040361 | NR0B1 | c.1168+10C= (n.1168+10C=) c.283+10C= (n.283+10C=) | |
| X | g.30308188A>C | CA2592793171 | NR0B1 | c.1168+8T>G (n.1168+8T>G) c.283+8T>G (n.283+8T>G) | gnomAD v3 gnomAD v4 |
| X | g.30308189C>A | CA2740092079 | NR0B1 | c.1168+7G>T (n.1168+7G>T) c.283+7G>T (n.283+7G>T) | ClinVar |
| X | g.30308190C>A | CA2422040363 | NR0B1 | c.1168+6G>T (n.1168+6G>T) c.283+6G>T (n.283+6G>T) | dbSNP |
| X | g.30308190C= | CA2422040362 | NR0B1 | c.1168+6G= (n.1168+6G=) c.283+6G= (n.283+6G=) | |
| X | g.30308190C>T | CA10376307 | NR0B1 | c.1168+6G>A (n.1168+6G>A) c.283+6G>A (n.283+6G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308191C>T | CA2693383154 | NR0B1 | c.1168+5G>A (n.1168+5G>A) c.283+5G>A (n.283+5G>A) | gnomAD v4 |
| X | g.30308194A>C | CA412546144 | NR0B1 | c.1168+2T>G (n.1168+2T>G) c.283+2T>G (n.283+2T>G) | gnomAD v4 |
| X | g.30308194A>G | CA412546146 | NR0B1 | c.1168+2T>C (n.1168+2T>C) c.283+2T>C (n.283+2T>C) | |
| X | g.30308194A>T | CA412546148 | NR0B1 | c.1168+2T>A (n.1168+2T>A) c.283+2T>A (n.283+2T>A) | |
| X | g.30308194_30308195dup | CA2695232155 | NR0B1 | c.1168+1_1168+2dup (n.1168+1_1168+2dup) c.283+1_283+2dup (n.283+1_283+2dup) | |
| X | g.30308195C>A | CA412546155 | NR0B1 | c.1168+1G>T (n.1168+1G>T) c.283+1G>T (n.283+1G>T) | ClinVar dbSNP gnomAD v4 |
| X | g.30308195C>G | CA412546151 | NR0B1 | c.1168+1G>C (n.1168+1G>C) c.283+1G>C (n.283+1G>C) | |
| X | g.30308195C>T | CA412546153 | NR0B1 | c.1168+1G>A (n.1168+1G>A) c.283+1G>A (n.283+1G>A) | |
| X | g.30308197del | CA2573158600 | NR0B1 | c.1168+1del c.283+1del | ClinVar dbSNP |
| X | g.30308196C>A | CA412546158 | NR0B1 | c.1168G>T (p.Asp390Tyr) c.283G>T (p.Gly95Ter) | |
| X | g.30308196C>G | CA412546160 | NR0B1 | c.1168G>C (p.Asp390His) c.283G>C (p.Gly95Arg) | |
| X | g.30308196C>T | CA412546164 | NR0B1 | c.1168G>A (p.Asp390Asn) c.283G>A (p.Gly95Arg) | |
| X | g.30308197C>A | CA10376308 | NR0B1 | c.1167G>T (p.Pro389=) c.282G>T (p.Pro94=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308197C= | CA2422040364 | NR0B1 | c.1167G= (p.Pro389=) c.282G= (p.Pro94=) | |
| X | g.30308197C>G | CA10376309 | NR0B1 | c.1167G>C (p.Pro389=) c.282G>C (p.Pro94=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308197C>T | CA515717387 | NR0B1 | c.1167G>A (p.Pro389=) c.282G>A (p.Pro94=) | |
| X | g.30308198G>A | CA412546174 | NR0B1 | c.1166C>T (p.Pro389Leu) c.281C>T (p.Pro94Leu) | dbSNP gnomAD v2 |
| X | g.30308198G>C | CA412546171 | NR0B1 | c.1166C>G (p.Pro389Arg) c.281C>G (p.Pro94Arg) | |
| X | g.30308198G= | CA2422040365 | NR0B1 | c.1166C= (p.Pro389=) c.281C= (p.Pro94=) | |
| X | g.30308198G>T | CA412546172 | NR0B1 | c.1166C>A (p.Pro389Gln) c.281C>A (p.Pro94Gln) | gnomAD v4 |
| X | g.30308199G>A | CA412546177 | NR0B1 | c.1165C>T (p.Pro389Ser) c.280C>T (p.Pro94Ser) | COSMIC |
| X | g.30308199G>C | CA412546179 | NR0B1 | c.1165C>G (p.Pro389Ala) c.280C>G (p.Pro94Ala) | |
| X | g.30308199G>T | CA412546181 | NR0B1 | c.1165C>A (p.Pro389Thr) c.280C>A (p.Pro94Thr) | |
| X | g.30308200G>A | CA515717389 | NR0B1 | c.1164C>T (p.Asn388=) c.279C>T (p.Asn93=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308200G>C | CA412546183 | NR0B1 | c.1164C>G (p.Asn388Lys) c.279C>G (p.Asn93Lys) | |
| X | g.30308200G= | CA2422040366 | NR0B1 | c.1164C= (p.Asn388=) c.279C= (p.Asn93=) | |
| X | g.30308200G>T | CA412546185 | NR0B1 | c.1164C>A (p.Asn388Lys) c.279C>A (p.Asn93Lys) | |
| X | g.30308201T>A | CA412546187 | NR0B1 | c.1163A>T (p.Asn388Ile) c.278A>T (p.Asn93Ile) | |
| X | g.30308201T>C | CA412546189 | NR0B1 | c.1163A>G (p.Asn388Ser) c.278A>G (p.Asn93Ser) | |
| X | g.30308201T>G | CA412546191 | NR0B1 | c.1163A>C (p.Asn388Thr) c.278A>C (p.Asn93Thr) | |
| X | g.30308202dup | CA2695232156 | NR0B1 | c.1163dup (p.Asn388LysfsTer26) c.278dup (p.Asn93LysfsTer9) | |
| X | g.30308202T>A | CA412546195 | NR0B1 | c.1162A>T (p.Asn388Tyr) c.277A>T (p.Asn93Tyr) | |
| X | g.30308202T>C | CA412546197 | NR0B1 | c.1162A>G (p.Asn388Asp) c.277A>G (p.Asn93Asp) | |
| X | g.30308202T>G | CA412546198 | NR0B1 | c.1162A>C (p.Asn388His) c.277A>C (p.Asn93His) | |
| X | g.30308203A= | CA2422040367 | NR0B1 | c.1161T= (p.Phe387=) c.276T= (p.Phe92=) | |
| X | g.30308203A>C | CA412546201 | NR0B1 | c.1161T>G (p.Phe387Leu) c.276T>G (p.Phe92Leu) | |
| X | g.30308203A>G | CA515717390 | NR0B1 | c.1161T>C (p.Phe387=) c.276T>C (p.Phe92=) | ClinVar dbSNP |
| X | g.30308203A>T | CA412546203 | NR0B1 | c.1161T>A (p.Phe387Leu) c.276T>A (p.Phe92Leu) | |
| X | g.30308204A>C | CA412546207 | NR0B1 | c.1160T>G (p.Phe387Cys) c.275T>G (p.Phe92Cys) | |
| X | g.30308204A>G | CA412546211 | NR0B1 | c.1160T>C (p.Phe387Ser) c.275T>C (p.Phe92Ser) | |
| X | g.30308204A>T | CA412546209 | NR0B1 | c.1160T>A (p.Phe387Tyr) c.275T>A (p.Phe92Tyr) | |
| X | g.30308205A>C | CA412546213 | NR0B1 | c.1159T>G (p.Phe387Val) c.274T>G (p.Phe92Val) | |
| X | g.30308205A>G | CA412546215 | NR0B1 | c.1159T>C (p.Phe387Leu) c.274T>C (p.Phe92Leu) | gnomAD v4 |
| X | g.30308205A>T | CA412546217 | NR0B1 | c.1159T>A (p.Phe387Ile) c.274T>A (p.Phe92Ile) | |
| X | g.30308207_30308208del | CA2695232157 | NR0B1 | c.1158_1159del (p.Phe387Ter) c.273_274del (p.Phe92Ter) | |
| X | g.30308206G>A | CA515717391 | NR0B1 | c.1158C>T (p.Leu386=) c.273C>T (p.Leu91=) | |
| X | g.30308206G>C | CA515717392 | NR0B1 | c.1158C>G (p.Leu386=) c.273C>G (p.Leu91=) | gnomAD v4 |
| X | g.30308206G>T | CA515717393 | NR0B1 | c.1158C>A (p.Leu386=) c.273C>A (p.Leu91=) | |
| X | g.30308209_30308223del | CA2695232158 | NR0B1 | c.1144_1158del (p.Lys382_Leu386del) c.259_273del (p.Lys87_Leu91del) | |
| X | g.30308207A>C | CA412546220 | NR0B1 | c.1157T>G (p.Leu386Arg) c.272T>G (p.Leu91Arg) | ClinVar |
| X | g.30308207A>G | CA412546222 | NR0B1 | c.1157T>C (p.Leu386Pro) c.272T>C (p.Leu91Pro) | |
| X | g.30308207A>T | CA412546224 | NR0B1 | c.1157T>A (p.Leu386His) c.272T>A (p.Leu91His) | |
| X | g.30308208G>A | CA412546227 | NR0B1 | c.1156C>T (p.Leu386Phe) c.271C>T (p.Leu91Phe) | |
| X | g.30308208G>C | CA412546229 | NR0B1 | c.1156C>G (p.Leu386Val) c.271C>G (p.Leu91Val) | |
| X | g.30308208G>T | CA412546231 | NR0B1 | c.1156C>A (p.Leu386Ile) c.271C>A (p.Leu91Ile) | |
| X | g.30308209C>A | CA515717395 | NR0B1 | c.1155G>T (p.Val385=) c.270G>T (p.Val90=) | |
| X | g.30308209C>G | CA515717396 | NR0B1 | c.1155G>C (p.Val385=) c.270G>C (p.Val90=) | |
| X | g.30308209C>T | CA515717397 | NR0B1 | c.1155G>A (p.Val385=) c.270G>A (p.Val90=) | gnomAD v4 |
| X | g.30308210A>C | CA412546233 | NR0B1 | c.1154T>G (p.Val385Gly) c.269T>G (p.Val90Gly) | |
| X | g.30308210A>G | CA412546235 | NR0B1 | c.1154T>C (p.Val385Ala) c.269T>C (p.Val90Ala) | |
| X | g.30308210A>T | CA412546238 | NR0B1 | c.1154T>A (p.Val385Glu) c.269T>A (p.Val90Glu) | |
| X | g.30308211C>A | CA412546243 | NR0B1 | c.1153G>T (p.Val385Leu) c.268G>T (p.Val90Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308211C= | CA2422040368 | NR0B1 | c.1153G= (p.Val385=) c.268G= (p.Val90=) | |
| X | g.30308211C>G | CA412546239 | NR0B1 | c.1153G>C (p.Val385Leu) c.268G>C (p.Val90Leu) | |
| X | g.30308211C>T | CA412546241 | NR0B1 | c.1153G>A (p.Val385Met) c.268G>A (p.Val90Met) | gnomAD v4 |
| X | g.30308212G>A | CA515717398 | NR0B1 | c.1152C>T (p.Thr384=) c.267C>T (p.Thr89=) | gnomAD v4 |
| X | g.30308212G>C | CA515717399 | NR0B1 | c.1152C>G (p.Thr384=) c.267C>G (p.Thr89=) | |
| X | g.30308212G= | CA2422040369 | NR0B1 | c.1152C= (p.Thr384=) c.267C= (p.Thr89=) | |
| X | g.30308212G>T | CA515717400 | NR0B1 | c.1152C>A (p.Thr384=) c.267C>A (p.Thr89=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308213G>A | CA10376310 | NR0B1 | c.1151C>T (p.Thr384Ile) c.266C>T (p.Thr89Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308213G>C | CA412546247 | NR0B1 | c.1151C>G (p.Thr384Ser) c.266C>G (p.Thr89Ser) | |
| X | g.30308213G= | CA2422040370 | NR0B1 | c.1151C= (p.Thr384=) c.266C= (p.Thr89=) | |
| X | g.30308213G>T | CA412546249 | NR0B1 | c.1151C>A (p.Thr384Asn) c.266C>A (p.Thr89Asn) | |
| X | g.30308214T>A | CA412546252 | NR0B1 | c.1150A>T (p.Thr384Ser) c.265A>T (p.Thr89Ser) | |
| X | g.30308214T>C | CA412546253 | NR0B1 | c.1150A>G (p.Thr384Ala) c.265A>G (p.Thr89Ala) | |
| X | g.30308214T>G | CA412546256 | NR0B1 | c.1150A>C (p.Thr384Pro) c.265A>C (p.Thr89Pro) | |
| X | g.30308215C>A | CA515717403 | NR0B1 | c.1149G>T (p.Gly383=) c.264G>T (p.Gly88=) | COSMIC COSMIC |
| X | g.30308215C>G | CA515717401 | NR0B1 | c.1149G>C (p.Gly383=) c.264G>C (p.Gly88=) | |
| X | g.30308215C>T | CA515717402 | NR0B1 | c.1149G>A (p.Gly383=) c.264G>A (p.Gly88=) | |
| X | g.30308217_30308218del | CA2695232159 | NR0B1 | c.1148_1149del (p.Gly383AspfsTer5) c.263_264del (p.Gly88AspfsTer5) | |
| X | g.30308216C>A | CA412546258 | NR0B1 | c.1148G>T (p.Gly383Val) c.263G>T (p.Gly88Val) | |
| X | g.30308216C>G | CA412546261 | NR0B1 | c.1148G>C (p.Gly383Ala) c.263G>C (p.Gly88Ala) | |
| X | g.30308216C>T | CA412546263 | NR0B1 | c.1148G>A (p.Gly383Glu) c.263G>A (p.Gly88Glu) | |
| X | g.30308217C>A | CA412546265 | NR0B1 | c.1147G>T (p.Gly383Trp) c.262G>T (p.Gly88Trp) | |
| X | g.30308217C>G | CA412546267 | NR0B1 | c.1147G>C (p.Gly383Arg) c.262G>C (p.Gly88Arg) | |
| X | g.30308217C>T | CA412546269 | NR0B1 | c.1147G>A (p.Gly383Arg) c.262G>A (p.Gly88Arg) | |
| X | g.30308218C>A | CA255633 | NR0B1 | c.1146G>T (p.Lys382Asn) c.261G>T (p.Lys87Asn) | ClinVar dbSNP |
| X | g.30308218C= | CA2422040371 | NR0B1 | c.1146G= (p.Lys382=) c.261G= (p.Lys87=) | |
| X | g.30308218C>G | CA412546273 | NR0B1 | c.1146G>C (p.Lys382Asn) c.261G>C (p.Lys87Asn) | |
| X | g.30308218C>T | CA515717404 | NR0B1 | c.1146G>A (p.Lys382=) c.261G>A (p.Lys87=) | |
| X | g.30308219T>A | CA412546276 | NR0B1 | c.1145A>T (p.Lys382Met) c.260A>T (p.Lys87Met) | |
| X | g.30308219T>C | CA412546280 | NR0B1 | c.1145A>G (p.Lys382Arg) c.260A>G (p.Lys87Arg) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308219T>G | CA412546278 | NR0B1 | c.1145A>C (p.Lys382Thr) c.260A>C (p.Lys87Thr) | |
| X | g.30308219T= | CA2422040372 | NR0B1 | c.1145A= (p.Lys382=) c.260A= (p.Lys87=) | |
| X | g.30308220T>A | CA412546283 | NR0B1 | c.1144A>T (p.Lys382Ter) c.259A>T (p.Lys87Ter) | |
| X | g.30308220T>C | CA412546287 | NR0B1 | c.1144A>G (p.Lys382Glu) c.259A>G (p.Lys87Glu) | |
| X | g.30308220T>G | CA412546285 | NR0B1 | c.1144A>C (p.Lys382Gln) c.259A>C (p.Lys87Gln) | gnomAD v4 |
| X | g.30308221G>A | CA515717406 | NR0B1 | c.1143C>T (p.Leu381=) c.258C>T (p.Leu86=) | |
| X | g.30308221G>C | CA515717405 | NR0B1 | c.1143C>G (p.Leu381=) c.258C>G (p.Leu86=) | |
| X | g.30308221G>T | CA515717407 | NR0B1 | c.1143C>A (p.Leu381=) c.258C>A (p.Leu86=) | COSMIC COSMIC |
| X | g.30308222A= | CA2422040373 | NR0B1 | c.1142T= (p.Leu381=) c.257T= (p.Leu86=) | |
| X | g.30308222A>C | CA412546290 | NR0B1 | c.1142T>G (p.Leu381Arg) c.257T>G (p.Leu86Arg) | |
| X | g.30308222A>G | CA412546292 | NR0B1 | c.1142T>C (p.Leu381Pro) c.257T>C (p.Leu86Pro) | ClinVar dbSNP |
| X | g.30308222A>T | CA255638 | NR0B1 | c.1142T>A (p.Leu381His) c.257T>A (p.Leu86His) | ClinVar dbSNP |
| X | g.30308223G>A | CA260499 | NR0B1 | c.1141C>T (p.Leu381Phe) c.256C>T (p.Leu86Phe) | ClinVar dbSNP |
| X | g.30308223G>C | CA412546296 | NR0B1 | c.1141C>G (p.Leu381Val) c.256C>G (p.Leu86Val) | |
| X | g.30308223G= | CA2422040374 | NR0B1 | c.1141C= (p.Leu381=) c.256C= (p.Leu86=) | |
| X | g.30308223G>T | CA412546298 | NR0B1 | c.1141C>A (p.Leu381Ile) c.256C>A (p.Leu86Ile) | |
| X | g.30308224G>A | CA515717408 | NR0B1 | c.1140C>T (p.Tyr380=) c.255C>T (p.Tyr85=) | dbSNP COSMIC COSMIC |
| X | g.30308224G>C | CA412546301 | NR0B1 | c.1140C>G (p.Tyr380Ter) c.255C>G (p.Tyr85Ter) | |
| X | g.30308224G= | CA2422040375 | NR0B1 | c.1140C= (p.Tyr380=) c.255C= (p.Tyr85=) | |
| X | g.30308224G>T | CA412546302 | NR0B1 | c.1140C>A (p.Tyr380Ter) c.255C>A (p.Tyr85Ter) | |
| X | g.30308225T>A | CA412546306 | NR0B1 | c.1139A>T (p.Tyr380Phe) c.254A>T (p.Tyr85Phe) | |
| X | g.30308225T>C | CA412546307 | NR0B1 | c.1139A>G (p.Tyr380Cys) c.254A>G (p.Tyr85Cys) | dbSNP gnomAD v2 |
| X | g.30308225T>G | CA412546310 | NR0B1 | c.1139A>C (p.Tyr380Ser) c.254A>C (p.Tyr85Ser) | |
| X | g.30308225T= | CA2422040376 | NR0B1 | c.1139A= (p.Tyr380=) c.254A= (p.Tyr85=) | |
| X | g.30308226A= | CA2422040377 | NR0B1 | c.1138T= (p.Tyr380=) c.253T= (p.Tyr85=) | |
| X | g.30308226A>C | CA255639 | NR0B1 | c.1138T>G (p.Tyr380Asp) c.253T>G (p.Tyr85Asp) | ClinVar dbSNP |
| X | g.30308226A>G | CA412546313 | NR0B1 | c.1138T>C (p.Tyr380His) c.253T>C (p.Tyr85His) | |
| X | g.30308226A>T | CA412546312 | NR0B1 | c.1138T>A (p.Tyr380Asn) c.253T>A (p.Tyr85Asn) | |
| X | g.30308226_30308227insT | CA2695232160 | NR0B1 | c.1137_1138insA (p.Tyr380IlefsTer9) c.252_253insA (p.Tyr85IlefsTer9) | |
| X | g.30308227G>A | CA515717409 | NR0B1 | c.1137C>T (p.Ala379=) c.252C>T (p.Ala84=) | gnomAD v4 |
| X | g.30308227G>C | CA515717410 | NR0B1 | c.1137C>G (p.Ala379=) c.252C>G (p.Ala84=) | |
| X | g.30308227G>T | CA515717411 | NR0B1 | c.1137C>A (p.Ala379=) c.252C>A (p.Ala84=) | |
| X | g.30308228G>A | CA412546316 | NR0B1 | c.1136C>T (p.Ala379Val) c.251C>T (p.Ala84Val) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308228G>C | CA412546319 | NR0B1 | c.1136C>G (p.Ala379Gly) c.251C>G (p.Ala84Gly) | |
| X | g.30308228G>T | CA412546321 | NR0B1 | c.1136C>A (p.Ala379Asp) c.251C>A (p.Ala84Asp) | COSMIC COSMIC |
| X | g.30308229C>A | CA412546323 | NR0B1 | c.1135G>T (p.Ala379Ser) c.250G>T (p.Ala84Ser) | |
| X | g.30308229C>G | CA412546326 | NR0B1 | c.1135G>C (p.Ala379Pro) c.250G>C (p.Ala84Pro) | |
| X | g.30308229C>T | CA412546328 | NR0B1 | c.1135G>A (p.Ala379Thr) c.250G>A (p.Ala84Thr) | COSMIC COSMIC |
| X | g.30308230G>A | CA515717412 | NR0B1 | c.1134C>T (p.Tyr378=) c.249C>T (p.Tyr83=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308230G>C | CA412546329 | NR0B1 | c.1134C>G (p.Tyr378Ter) c.249C>G (p.Tyr83Ter) | |
| X | g.30308230G= | CA2422040378 | NR0B1 | c.1134C= (p.Tyr378=) c.249C= (p.Tyr83=) | |
| X | g.30308230G>T | CA412546331 | NR0B1 | c.1134C>A (p.Tyr378Ter) c.249C>A (p.Tyr83Ter) | |
| X | g.30308231T>A | CA412546332 | NR0B1 | c.1133A>T (p.Tyr378Phe) c.248A>T (p.Tyr83Phe) | |
| X | g.30308231T>C | CA412546333 | NR0B1 | c.1133A>G (p.Tyr378Cys) c.248A>G (p.Tyr83Cys) | |
| X | g.30308231T>G | CA412546335 | NR0B1 | c.1133A>C (p.Tyr378Ser) c.248A>C (p.Tyr83Ser) | |
| X | g.30308232del | CA2695232161 | NR0B1 | c.1132del (p.Tyr378ThrfsTer20) c.247del (p.Tyr83ThrfsTer27) | |
| X | g.30308232A>C | CA412546341 | NR0B1 | c.1132T>G (p.Tyr378Asp) c.247T>G (p.Tyr83Asp) | |
| X | g.30308232A>G | CA412546339 | NR0B1 | c.1132T>C (p.Tyr378His) c.247T>C (p.Tyr83His) | |
| X | g.30308232A>T | CA412546337 | NR0B1 | c.1132T>A (p.Tyr378Asn) c.247T>A (p.Tyr83Asn) | |
| X | g.30308233C>A | CA412546344 | NR0B1 | c.1131G>T (p.Glu377Asp) c.246G>T (p.Glu82Asp) | |
| X | g.30308233C>G | CA412546346 | NR0B1 | c.1131G>C (p.Glu377Asp) c.246G>C (p.Glu82Asp) | |
| X | g.30308233C>T | CA515717413 | NR0B1 | c.1131G>A (p.Glu377=) c.246G>A (p.Glu82=) | gnomAD v4 |
| X | g.30308234del | CA2695232163 | NR0B1 | c.1130del (p.Glu377GlyfsTer21) c.245del (p.Glu82GlyfsTer28) | |
| X | g.30308234T>A | CA412546349 | NR0B1 | c.1130A>T (p.Glu377Val) c.245A>T (p.Glu82Val) | |
| X | g.30308234T>C | CA412546351 | NR0B1 | c.1130A>G (p.Glu377Gly) c.245A>G (p.Glu82Gly) | |
| X | g.30308234T>G | CA412546353 | NR0B1 | c.1130A>C (p.Glu377Ala) c.245A>C (p.Glu82Ala) | |
| X | g.30308234delinsAC | CA2695232162 | NR0B1 | c.1130delinsGT (p.Glu377GlyfsTer12) c.245delinsGT (p.Glu82GlyfsTer12) | |
| X | g.30308235C>A | CA412546356 | NR0B1 | c.1129G>T (p.Glu377Ter) c.244G>T (p.Glu82Ter) | |
| X | g.30308235C>G | CA412546358 | NR0B1 | c.1129G>C (p.Glu377Gln) c.244G>C (p.Glu82Gln) | |
| X | g.30308235C>T | CA412546360 | NR0B1 | c.1129G>A (p.Glu377Lys) c.244G>A (p.Glu82Lys) | |
| X | g.30308236C>A | CA412546363 | NR0B1 | c.1128G>T (p.Lys376Asn) c.243G>T (p.Lys81Asn) | |
| X | g.30308236C>G | CA412546365 | NR0B1 | c.1128G>C (p.Lys376Asn) c.243G>C (p.Lys81Asn) | |
| X | g.30308236C>T | CA515717414 | NR0B1 | c.1128G>A (p.Lys376=) c.243G>A (p.Lys81=) | |
| X | g.30308237T>A | CA412546368 | NR0B1 | c.1127A>T (p.Lys376Met) c.242A>T (p.Lys81Met) | |
| X | g.30308237T>C | CA412546369 | NR0B1 | c.1127A>G (p.Lys376Arg) c.242A>G (p.Lys81Arg) | |
| X | g.30308237T>G | CA412546372 | NR0B1 | c.1127A>C (p.Lys376Thr) c.242A>C (p.Lys81Thr) | |
| X | g.30308238T>A | CA412546378 | NR0B1 | c.1126A>T (p.Lys376Ter) c.241A>T (p.Lys81Ter) | |
| X | g.30308238T>C | CA412546375 | NR0B1 | c.1126A>G (p.Lys376Glu) c.241A>G (p.Lys81Glu) | gnomAD v4 |
| X | g.30308238T>G | CA412546377 | NR0B1 | c.1126A>C (p.Lys376Gln) c.241A>C (p.Lys81Gln) | |
| X | g.30308239G>A | CA515717415 | NR0B1 | c.1125C>T (p.Thr375=) c.240C>T (p.Thr80=) | ClinVar dbSNP |
| X | g.30308239G>C | CA515717416 | NR0B1 | c.1125C>G (p.Thr375=) c.240C>G (p.Thr80=) | |
| X | g.30308239G= | CA2422040379 | NR0B1 | c.1125C= (p.Thr375=) c.240C= (p.Thr80=) | |
| X | g.30308239G>T | CA515717417 | NR0B1 | c.1125C>A (p.Thr375=) c.240C>A (p.Thr80=) | |
| X | g.30308240G>A | CA412546381 | NR0B1 | c.1124C>T (p.Thr375Ile) c.239C>T (p.Thr80Ile) | |
| X | g.30308240G>C | CA412546382 | NR0B1 | c.1124C>G (p.Thr375Ser) c.239C>G (p.Thr80Ser) | |
| X | g.30308240G= | CA2422040380 | NR0B1 | c.1124C= (p.Thr375=) c.239C= (p.Thr80=) | |
| X | g.30308240G>T | CA412546385 | NR0B1 | c.1124C>A (p.Thr375Asn) c.239C>A (p.Thr80Asn) | |
| X | g.30308240_30308241insA | CA658684287 | NR0B1 | c.1123_1124insT (p.Thr375IlefsTer14) c.238_239insT (p.Thr80IlefsTer14) | ClinVar dbSNP |
| X | g.30308241T>A | CA412546387 | NR0B1 | c.1123A>T (p.Thr375Ser) c.238A>T (p.Thr80Ser) | |
| X | g.30308241T>C | CA412546390 | NR0B1 | c.1123A>G (p.Thr375Ala) c.238A>G (p.Thr80Ala) | |
| X | g.30308241T>G | CA412546392 | NR0B1 | c.1123A>C (p.Thr375Pro) c.238A>C (p.Thr80Pro) | |
| X | g.30308242A>C | CA412546395 | NR0B1 | c.1122T>G (p.Ser374Arg) c.237T>G (p.Ser79Arg) | |
| X | g.30308242A>G | CA515717418 | NR0B1 | c.1122T>C (p.Ser374=) c.237T>C (p.Ser79=) | |
| X | g.30308242A>T | CA412546397 | NR0B1 | c.1122T>A (p.Ser374Arg) c.237T>A (p.Ser79Arg) | |
| X | g.30308243C>A | CA412546400 | NR0B1 | c.1121G>T (p.Ser374Ile) c.236G>T (p.Ser79Ile) | |
| X | g.30308243C= | CA2422040381 | NR0B1 | c.1121G= (p.Ser374=) c.236G= (p.Ser79=) | |
| X | g.30308243C>G | CA412546402 | NR0B1 | c.1121G>C (p.Ser374Thr) c.236G>C (p.Ser79Thr) | |
| X | g.30308243C>T | CA412546404 | NR0B1 | c.1121G>A (p.Ser374Asn) c.236G>A (p.Ser79Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308244T>A | CA412546411 | NR0B1 | c.1120A>T (p.Ser374Cys) c.235A>T (p.Ser79Cys) | |
| X | g.30308244T>C | CA412546409 | NR0B1 | c.1120A>G (p.Ser374Gly) c.235A>G (p.Ser79Gly) | |
| X | g.30308244T>G | CA412546406 | NR0B1 | c.1120A>C (p.Ser374Arg) c.235A>C (p.Ser79Arg) | |
| X | g.30308245G>A | CA327975794 | NR0B1 | c.1119C>T (p.Ile373=) c.234C>T (p.Ile78=) | ClinVar dbSNP |
| X | g.30308245G>C | CA412546414 | NR0B1 | c.1119C>G (p.Ile373Met) c.234C>G (p.Ile78Met) | |
| X | g.30308245G= | CA2422040382 | NR0B1 | c.1119C= (p.Ile373=) c.234C= (p.Ile78=) | |
| X | g.30308245G>T | CA515717419 | NR0B1 | c.1119C>A (p.Ile373=) c.234C>A (p.Ile78=) | |
| X | g.30308246A>C | CA412546417 | NR0B1 | c.1118T>G (p.Ile373Ser) c.233T>G (p.Ile78Ser) | |
| X | g.30308246A>G | CA412546419 | NR0B1 | c.1118T>C (p.Ile373Thr) c.233T>C (p.Ile78Thr) | |
| X | g.30308246A>T | CA412546421 | NR0B1 | c.1118T>A (p.Ile373Asn) c.233T>A (p.Ile78Asn) | |
| X | g.30308247T>A | CA412546424 | NR0B1 | c.1117A>T (p.Ile373Phe) c.232A>T (p.Ile78Phe) | |
| X | g.30308247T>C | CA412546426 | NR0B1 | c.1117A>G (p.Ile373Val) c.232A>G (p.Ile78Val) | |
| X | g.30308247T>G | CA412546428 | NR0B1 | c.1117A>C (p.Ile373Leu) c.232A>C (p.Ile78Leu) | |
| X | g.30308248_30308250del | CA2695232164 | NR0B1 | c.1115_1117del (p.Asn372del) c.230_232del (p.Asn77del) | |
| X | g.30308248G>A | CA515717420 | NR0B1 | c.1116C>T (p.Asn372=) c.231C>T (p.Asn77=) | |
| X | g.30308248G>C | CA412546431 | NR0B1 | c.1116C>G (p.Asn372Lys) c.231C>G (p.Asn77Lys) | |
| X | g.30308248G>T | CA412546430 | NR0B1 | c.1116C>A (p.Asn372Lys) c.231C>A (p.Asn77Lys) | |
| X | g.30308249T>A | CA412546433 | NR0B1 | c.1115A>T (p.Asn372Ile) c.230A>T (p.Asn77Ile) | |
| X | g.30308249T>C | CA412546436 | NR0B1 | c.1115A>G (p.Asn372Ser) c.230A>G (p.Asn77Ser) | |
| X | g.30308249T>G | CA412546438 | NR0B1 | c.1115A>C (p.Asn372Thr) c.230A>C (p.Asn77Thr) | gnomAD v4 |
| X | g.30308250T>A | CA412546441 | NR0B1 | c.1114A>T (p.Asn372Tyr) c.229A>T (p.Asn77Tyr) | |
| X | g.30308250T>C | CA412546443 | NR0B1 | c.1114A>G (p.Asn372Asp) c.229A>G (p.Asn77Asp) | |
| X | g.30308250T>G | CA412546445 | NR0B1 | c.1114A>C (p.Asn372His) c.229A>C (p.Asn77His) | |
| X | g.30308251C>A | CA515717421 | NR0B1 | c.1113G>T (p.Leu371=) c.228G>T (p.Leu76=) | |
| X | g.30308251C>G | CA515717422 | NR0B1 | c.1113G>C (p.Leu371=) c.228G>C (p.Leu76=) | |
| X | g.30308251C>T | CA515717423 | NR0B1 | c.1113G>A (p.Leu371=) c.228G>A (p.Leu76=) | |
| X | g.30308252A>C | CA412546448 | NR0B1 | c.1112T>G (p.Leu371Arg) c.227T>G (p.Leu76Arg) | |
| X | g.30308252A>G | CA412546450 | NR0B1 | c.1112T>C (p.Leu371Pro) c.227T>C (p.Leu76Pro) | |
| X | g.30308252A>T | CA412546449 | NR0B1 | c.1112T>A (p.Leu371Gln) c.227T>A (p.Leu76Gln) | |
| X | g.30308253G>A | CA515717424 | NR0B1 | c.1111C>T (p.Leu371=) c.226C>T (p.Leu76=) | |
| X | g.30308253G>C | CA412546452 | NR0B1 | c.1111C>G (p.Leu371Val) c.226C>G (p.Leu76Val) | |
| X | g.30308253G>T | CA412546454 | NR0B1 | c.1111C>A (p.Leu371Met) c.226C>A (p.Leu76Met) | |
| X | g.30308254A>C | CA412546457 | NR0B1 | c.1110T>G (p.Ser370Arg) c.225T>G (p.Ser75Arg) | |
| X | g.30308254A>G | CA515717425 | NR0B1 | c.1110T>C (p.Ser370=) c.225T>C (p.Ser75=) | |
| X | g.30308254A>T | CA412546459 | NR0B1 | c.1110T>A (p.Ser370Arg) c.225T>A (p.Ser75Arg) | |
| X | g.30308255C>A | CA412546461 | NR0B1 | c.1109G>T (p.Ser370Ile) c.224G>T (p.Ser75Ile) | |
| X | g.30308255C= | CA2422040383 | NR0B1 | c.1109G= (p.Ser370=) c.224G= (p.Ser75=) | |
| X | g.30308255C>G | CA412546462 | NR0B1 | c.1109G>C (p.Ser370Thr) c.224G>C (p.Ser75Thr) | |
| X | g.30308255C>T | CA412546464 | NR0B1 | c.1109G>A (p.Ser370Asn) c.224G>A (p.Ser75Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.30308256T>A | CA412546466 | NR0B1 | c.1108A>T (p.Ser370Cys) c.223A>T (p.Ser75Cys) | COSMIC COSMIC |
| X | g.30308256T>C | CA412546467 | NR0B1 | c.1108A>G (p.Ser370Gly) c.223A>G (p.Ser75Gly) | |
| X | g.30308256T>G | CA412546468 | NR0B1 | c.1108A>C (p.Ser370Arg) c.223A>C (p.Ser75Arg) | gnomAD v3 gnomAD v4 |
| X | g.30308257C>A | CA412546474 | NR0B1 | c.1107G>T (p.Trp369Cys) c.222G>T (p.Trp74Cys) | |
| X | g.30308257C= | CA2422040384 | NR0B1 | c.1107G= (p.Trp369=) c.222G= (p.Trp74=) | |
| X | g.30308257C>G | CA412546472 | NR0B1 | c.1107G>C (p.Trp369Cys) c.222G>C (p.Trp74Cys) | dbSNP gnomAD v4 |
| X | g.30308257C>T | CA255617 | NR0B1 | c.1107G>A (p.Trp369Ter) c.222G>A (p.Trp74Ter) | ClinVar dbSNP |
| X | g.30308258C>A | CA412546476 | NR0B1 | c.1106G>T (p.Trp369Leu) c.221G>T (p.Trp74Leu) | |
| X | g.30308258C>G | CA412546478 | NR0B1 | c.1106G>C (p.Trp369Ser) c.221G>C (p.Trp74Ser) | |
| X | g.30308258C>T | CA412546480 | NR0B1 | c.1106G>A (p.Trp369Ter) c.221G>A (p.Trp74Ter) | |
| X | g.30308259A>C | CA412546483 | NR0B1 | c.1105T>G (p.Trp369Gly) c.220T>G (p.Trp74Gly) | |
| X | g.30308259A>G | CA412546484 | NR0B1 | c.1105T>C (p.Trp369Arg) c.220T>C (p.Trp74Arg) | |
| X | g.30308259A>T | CA412546487 | NR0B1 | c.1105T>A (p.Trp369Arg) c.220T>A (p.Trp74Arg) | |
| X | g.30308260G>A | CA515717426 | NR0B1 | c.1104C>T (p.Cys368=) c.219C>T (p.Cys73=) | |
| X | g.30308260G>C | CA412546489 | NR0B1 | c.1104C>G (p.Cys368Trp) c.219C>G (p.Cys73Trp) | |
| X | g.30308260G>T | CA412546492 | NR0B1 | c.1104C>A (p.Cys368Ter) c.219C>A (p.Cys73Ter) | ClinVar |
| X | g.30308261C>A | CA412546494 | NR0B1 | c.1103G>T (p.Cys368Phe) c.218G>T (p.Cys73Phe) | ClinVar |
| X | g.30308261C>G | CA412546497 | NR0B1 | c.1103G>C (p.Cys368Ser) c.218G>C (p.Cys73Ser) | |
| X | g.30308261C>T | CA412546499 | NR0B1 | c.1103G>A (p.Cys368Tyr) c.218G>A (p.Cys73Tyr) | |
| X | g.30308262A>C | CA412546501 | NR0B1 | c.1102T>G (p.Cys368Gly) c.217T>G (p.Cys73Gly) | |
| X | g.30308262A>G | CA412546504 | NR0B1 | c.1102T>C (p.Cys368Arg) c.217T>C (p.Cys73Arg) | |
| X | g.30308262A>T | CA412546506 | NR0B1 | c.1102T>A (p.Cys368Ser) c.217T>A (p.Cys73Ser) | |
| X | g.30308263T>A | CA412546508 | NR0B1 | c.1101A>T (p.Lys367Asn) c.216A>T (p.Lys72Asn) | |
| X | g.30308263T>C | CA515717427 | NR0B1 | c.1101A>G (p.Lys367=) c.216A>G (p.Lys72=) | |
| X | g.30308263T>G | CA412546510 | NR0B1 | c.1101A>C (p.Lys367Asn) c.216A>C (p.Lys72Asn) | |
| X | g.30308264T>A | CA412546512 | NR0B1 | c.1100A>T (p.Lys367Ile) c.215A>T (p.Lys72Ile) | |
| X | g.30308264T>C | CA412546515 | NR0B1 | c.1100A>G (p.Lys367Arg) c.215A>G (p.Lys72Arg) | |
| X | g.30308264T>G | CA412546517 | NR0B1 | c.1100A>C (p.Lys367Thr) c.215A>C (p.Lys72Thr) | |
| X | g.30308265T>A | CA412546519 | NR0B1 | c.1099A>T (p.Lys367Ter) c.214A>T (p.Lys72Ter) | |
| X | g.30308265T>C | CA412546521 | NR0B1 | c.1099A>G (p.Lys367Glu) c.214A>G (p.Lys72Glu) | |
| X | g.30308265T>G | CA412546523 | NR0B1 | c.1099A>C (p.Lys367Gln) c.214A>C (p.Lys72Gln) | |
| X | g.30308266G>A | CA515717428 | NR0B1 | c.1098C>T (p.Ser366=) c.213C>T (p.Ser71=) | |
| X | g.30308266G>C | CA515717429 | NR0B1 | c.1098C>G (p.Ser366=) c.213C>G (p.Ser71=) | |
| X | g.30308266G>T | CA515717430 | NR0B1 | c.1098C>A (p.Ser366=) c.213C>A (p.Ser71=) | |
| X | g.30308267G>A | CA412546524 | NR0B1 | c.1097C>T (p.Ser366Phe) c.212C>T (p.Ser71Phe) | |
| X | g.30308267G>C | CA412546526 | NR0B1 | c.1097C>G (p.Ser366Cys) c.212C>G (p.Ser71Cys) | |
| X | g.30308267G>T | CA412546528 | NR0B1 | c.1097C>A (p.Ser366Tyr) c.212C>A (p.Ser71Tyr) | |
| X | g.30308268A>C | CA412546530 | NR0B1 | c.1096T>G (p.Ser366Ala) c.211T>G (p.Ser71Ala) | |
| X | g.30308268A>G | CA412546531 | NR0B1 | c.1096T>C (p.Ser366Pro) c.211T>C (p.Ser71Pro) | |
| X | g.30308268A>T | CA412546533 | NR0B1 | c.1096T>A (p.Ser366Thr) c.211T>A (p.Ser71Thr) | |
| X | g.30308269A>C | CA515717433 | NR0B1 | c.1095T>G (p.Leu365=) c.210T>G (p.Leu70=) | |
| X | g.30308269A>G | CA515717431 | NR0B1 | c.1095T>C (p.Leu365=) c.210T>C (p.Leu70=) | |
| X | g.30308269A>T | CA515717432 | NR0B1 | c.1095T>A (p.Leu365=) c.210T>A (p.Leu70=) | |
| X | g.30308270A= | CA2422040385 | NR0B1 | c.1094T= (p.Leu365=) c.209T= (p.Leu70=) | |
| X | g.30308270A>C | CA412546539 | NR0B1 | c.1094T>G (p.Leu365Arg) c.209T>G (p.Leu70Arg) | |
| X | g.30308270A>G | CA260497 | NR0B1 | c.1094T>C (p.Leu365Pro) c.209T>C (p.Leu70Pro) | ClinVar dbSNP |
| X | g.30308270A>T | CA412546535 | NR0B1 | c.1094T>A (p.Leu365His) c.209T>A (p.Leu70His) | |
| X | g.30308271G>A | CA412546547 | NR0B1 | c.1093C>T (p.Leu365Phe) c.208C>T (p.Leu70Phe) | |
| X | g.30308271G>C | CA412546542 | NR0B1 | c.1093C>G (p.Leu365Val) c.208C>G (p.Leu70Val) | |
| X | g.30308271G>T | CA412546543 | NR0B1 | c.1093C>A (p.Leu365Ile) c.208C>A (p.Leu70Ile) | COSMIC COSMIC |
| X | g.30308272A>C | CA412546549 | NR0B1 | c.1092T>G (p.Phe364Leu) c.207T>G (p.Phe69Leu) | |
| X | g.30308272A>G | CA515717434 | NR0B1 | c.1092T>C (p.Phe364=) c.207T>C (p.Phe69=) | |
| X | g.30308272A>T | CA412546550 | NR0B1 | c.1092T>A (p.Phe364Leu) c.207T>A (p.Phe69Leu) | |
| X | g.30308274del | CA2695232165 | NR0B1 | c.1092del (p.Leu365PhefsTer7) c.207del (p.Leu70PhefsTer7) | |
| X | g.30308273A>C | CA412546553 | NR0B1 | c.1091T>G (p.Phe364Cys) c.206T>G (p.Phe69Cys) | |
| X | g.30308273A>G | CA412546561 | NR0B1 | c.1091T>C (p.Phe364Ser) c.206T>C (p.Phe69Ser) | |
| X | g.30308273A>T | CA412546562 | NR0B1 | c.1091T>A (p.Phe364Tyr) c.206T>A (p.Phe69Tyr) |