Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.2251732_2251739del | CA2583853194 | AMH | c.1458_1465del (p.Asn486LysfsTer?) | gnomAD v4 |
19 | g.2251736T>A | CA403243164 | AMH | c.1462T>A (p.Cys488Ser) | gnomAD v4 |
19 | g.2251736T>C | CA403243165 | AMH | c.1462T>C (p.Cys488Arg) | gnomAD v4 |
19 | g.2251736T>G | CA403243166 | AMH | c.1462T>G (p.Cys488Gly) | |
19 | g.2251737G>A | CA403243167 | AMH | c.1463G>A (p.Cys488Tyr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251737G>C | CA403243168 | AMH | c.1463G>C (p.Cys488Ser) | |
19 | g.2251737G= | CA2318204518 | AMH | c.1463G= (p.Cys488=) | |
19 | g.2251737G>T | CA403243169 | AMH | c.1463G>T (p.Cys488Phe) | |
19 | g.2251738C>A | CA403243170 | AMH | c.1464C>A (p.Cys488Ter) | |
19 | g.2251738C= | CA2318204519 | AMH | c.1464C= (p.Cys488=) | |
19 | g.2251738C>G | CA403243171 | AMH | c.1464C>G (p.Cys488Trp) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251738C>T | CA505143729 | AMH | c.1464C>T (p.Cys488=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251739C>A | CA403243172 | AMH | c.1465C>A (p.Gln489Lys) | |
19 | g.2251739C>G | CA403243173 | AMH | c.1465C>G (p.Gln489Glu) | |
19 | g.2251739C>T | CA403243174 | AMH | c.1465C>T (p.Gln489Ter) | gnomAD v4 |
19 | g.2251740A>C | CA403243179 | AMH | c.1466A>C (p.Gln489Pro) | |
19 | g.2251740A>G | CA403243176 | AMH | c.1466A>G (p.Gln489Arg) | gnomAD v4 |
19 | g.2251740A>T | CA403243178 | AMH | c.1466A>T (p.Gln489Leu) | |
19 | g.2251741G>A | CA505143750 | AMH | c.1467G>A (p.Gln489=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251741G>C | CA403243181 | AMH | c.1467G>C (p.Gln489His) | dbSNP |
19 | g.2251741G= | CA2318204520 | AMH | c.1467G= (p.Gln489=) | |
19 | g.2251741G>T | CA403243182 | AMH | c.1467G>T (p.Gln489His) | gnomAD v4 |
19 | g.2251742G>A | CA403243184 | AMH | c.1468G>A (p.Gly490Ser) | |
19 | g.2251742G>C | CA403243186 | AMH | c.1468G>C (p.Gly490Arg) | |
19 | g.2251742G>T | CA403243187 | AMH | c.1468G>T (p.Gly490Cys) | gnomAD v4 |
19 | g.2251743G>A | CA9063084 | AMH | c.1469G>A (p.Gly490Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251743G>C | CA403243190 | AMH | c.1469G>C (p.Gly490Ala) | gnomAD v4 |
19 | g.2251743G= | CA2318204521 | AMH | c.1469G= (p.Gly490=) | |
19 | g.2251743G>T | CA403243191 | AMH | c.1469G>T (p.Gly490Val) | dbSNP gnomAD v4 |
19 | g.2251744C>A | CA304214218 | AMH | c.1470C>A (p.Gly490=) | dbSNP gnomAD v4 |
19 | g.2251744C= | CA2318204522 | AMH | c.1470C= (p.Gly490=) | |
19 | g.2251744C>G | CA505143757 | AMH | c.1470C>G (p.Gly490=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251744C>T | CA505143758 | AMH | c.1470C>T (p.Gly490=) | dbSNP gnomAD v4 COSMIC |
19 | g.2251745G>A | CA403243193 | AMH | c.1471G>A (p.Val491Met) | gnomAD v4 |
19 | g.2251745G>C | CA403243194 | AMH | c.1471G>C (p.Val491Leu) | |
19 | g.2251745G= | CA2318204523 | AMH | c.1471G= (p.Val491=) | |
19 | g.2251745G>T | CA403243197 | AMH | c.1471G>T (p.Val491Leu) | dbSNP gnomAD v4 |
19 | g.2251746T>A | CA403243198 | AMH | c.1472T>A (p.Val491Glu) | |
19 | g.2251746T>C | CA403243200 | AMH | c.1472T>C (p.Val491Ala) | gnomAD v4 |
19 | g.2251746T>G | CA403243201 | AMH | c.1472T>G (p.Val491Gly) | |
19 | g.2251747G>A | CA505143767 | AMH | c.1473G>A (p.Val491=) | gnomAD v4 |
19 | g.2251747G>C | CA505143769 | AMH | c.1473G>C (p.Val491=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251747G= | CA2318204524 | AMH | c.1473G= (p.Val491=) | |
19 | g.2251747G>T | CA505143770 | AMH | c.1473G>T (p.Val491=) | |
19 | g.2251748T>A | CA403243203 | AMH | c.1474T>A (p.Cys492Ser) | gnomAD v4 |
19 | g.2251748T>C | CA403243206 | AMH | c.1474T>C (p.Cys492Arg) | |
19 | g.2251748T>G | CA403243205 | AMH | c.1474T>G (p.Cys492Gly) | |
19 | g.2251749G>A | CA403243208 | AMH | c.1475G>A (p.Cys492Tyr) | |
19 | g.2251749G>C | CA403243209 | AMH | c.1475G>C (p.Cys492Ser) | |
19 | g.2251749G>T | CA403243211 | AMH | c.1475G>T (p.Cys492Phe) | |
19 | g.2251750C>A | CA403243213 | AMH | c.1476C>A (p.Cys492Ter) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251750C= | CA2318204525 | AMH | c.1476C= (p.Cys492=) | |
19 | g.2251750C>G | CA403243214 | AMH | c.1476C>G (p.Cys492Trp) | |
19 | g.2251750C>T | CA505143780 | AMH | c.1476C>T (p.Cys492=) | gnomAD v4 |
19 | g.2251751G>A | CA403243215 | AMH | c.1477G>A (p.Gly493Ser) | gnomAD v4 COSMIC |
19 | g.2251751G>C | CA9063085 | AMH | c.1477G>C (p.Gly493Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251751G= | CA2318204526 | AMH | c.1477G= (p.Gly493=) | |
19 | g.2251751G>T | CA403243217 | AMH | c.1477G>T (p.Gly493Cys) | gnomAD v4 |
19 | g.2251752G>A | CA403243219 | AMH | c.1478G>A (p.Gly493Asp) | gnomAD v4 |
19 | g.2251752G>C | CA403243220 | AMH | c.1478G>C (p.Gly493Ala) | gnomAD v4 |
19 | g.2251752G= | CA2318204527 | AMH | c.1478G= (p.Gly493=) | |
19 | g.2251752G>T | CA403243222 | AMH | c.1478G>T (p.Gly493Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251753C>A | CA505143788 | AMH | c.1479C>A (p.Gly493=) | |
19 | g.2251753C>G | CA505143789 | AMH | c.1479C>G (p.Gly493=) | |
19 | g.2251753C>T | CA505143790 | AMH | c.1479C>T (p.Gly493=) | gnomAD v4 |
19 | g.2251754T>A | CA403243223 | AMH | c.1480T>A (p.Trp494Arg) | |
19 | g.2251754T>C | CA403243226 | AMH | c.1480T>C (p.Trp494Arg) | gnomAD v4 |
19 | g.2251754T>G | CA403243224 | AMH | c.1480T>G (p.Trp494Gly) | |
19 | g.2251755G>A | CA9063086 | AMH | c.1481G>A (p.Trp494Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251755G>C | CA403243230 | AMH | c.1481G>C (p.Trp494Ser) | |
19 | g.2251755G= | CA2318204528 | AMH | c.1481G= (p.Trp494=) | |
19 | g.2251755G>T | CA403243228 | AMH | c.1481G>T (p.Trp494Leu) | gnomAD v4 |
19 | g.2251756G>A | CA403243231 | AMH | c.1482G>A (p.Trp494Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251756G>C | CA403243233 | AMH | c.1482G>C (p.Trp494Cys) | |
19 | g.2251756G= | CA2318204529 | AMH | c.1482G= (p.Trp494=) | |
19 | g.2251756G>T | CA403243234 | AMH | c.1482G>T (p.Trp494Cys) | gnomAD v4 |
19 | g.2251757C>A | CA403243236 | AMH | c.1483C>A (p.Pro495Thr) | |
19 | g.2251757C>G | CA403243237 | AMH | c.1483C>G (p.Pro495Ala) | |
19 | g.2251757C>T | CA403243238 | AMH | c.1483C>T (p.Pro495Ser) | |
19 | g.2251758C>A | CA403243240 | AMH | c.1484C>A (p.Pro495His) | |
19 | g.2251758C= | CA2318204530 | AMH | c.1484C= (p.Pro495=) | |
19 | g.2251758C>G | CA403243242 | AMH | c.1484C>G (p.Pro495Arg) | |
19 | g.2251758C>T | CA403243244 | AMH | c.1484C>T (p.Pro495Leu) | dbSNP gnomAD v4 |
19 | g.2251759T>A | CA505143816 | AMH | c.1485T>A (p.Pro495=) | gnomAD v4 |
19 | g.2251759T>C | CA505143817 | AMH | c.1485T>C (p.Pro495=) | dbSNP gnomAD v4 |
19 | g.2251759T>G | CA505143818 | AMH | c.1485T>G (p.Pro495=) | |
19 | g.2251759T= | CA2318204531 | AMH | c.1485T= (p.Pro495=) | |
19 | g.2251760C>A | CA403243245 | AMH | c.1486C>A (p.Gln496Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251760C= | CA2318204532 | AMH | c.1486C= (p.Gln496=) | |
19 | g.2251760C>G | CA403243246 | AMH | c.1486C>G (p.Gln496Glu) | |
19 | g.2251760C>T | CA403243248 | AMH | c.1486C>T (p.Gln496Ter) | |
19 | g.2251761A>C | CA403243250 | AMH | c.1487A>C (p.Gln496Pro) | |
19 | g.2251761A>G | CA403243253 | AMH | c.1487A>G (p.Gln496Arg) | |
19 | g.2251761A>T | CA403243252 | AMH | c.1487A>T (p.Gln496Leu) | |
19 | g.2251762G>A | CA505143832 | AMH | c.1488G>A (p.Gln496=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251762G>C | CA403243255 | AMH | c.1488G>C (p.Gln496His) | |
19 | g.2251762G= | CA2318204533 | AMH | c.1488G= (p.Gln496=) | |
19 | g.2251762G>T | CA403243257 | AMH | c.1488G>T (p.Gln496His) | gnomAD v4 |
19 | g.2251763T>A | CA403243258 | AMH | c.1489T>A (p.Ser497Thr) | COSMIC |
19 | g.2251763T>C | CA403243260 | AMH | c.1489T>C (p.Ser497Pro) | |
19 | g.2251763T>G | CA403243261 | AMH | c.1489T>G (p.Ser497Ala) | |
19 | g.2251764C>A | CA403243263 | AMH | c.1490C>A (p.Ser497Tyr) | |
19 | g.2251764C>G | CA403243265 | AMH | c.1490C>G (p.Ser497Cys) | |
19 | g.2251764C>T | CA403243266 | AMH | c.1490C>T (p.Ser497Phe) | COSMIC |
19 | g.2251765C>A | CA505143842 | AMH | c.1491C>A (p.Ser497=) | |
19 | g.2251765C= | CA2318204534 | AMH | c.1491C= (p.Ser497=) | |
19 | g.2251765C>G | CA9063088 | AMH | c.1491C>G (p.Ser497=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251765C>T | CA9063087 | AMH | c.1491C>T (p.Ser497=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251766G>A | CA403243271 | AMH | c.1492G>A (p.Asp498Asn) | dbSNP gnomAD v4 |
19 | g.2251766G>C | CA403243272 | AMH | c.1492G>C (p.Asp498His) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251766G= | CA2318204535 | AMH | c.1492G= (p.Asp498=) | |
19 | g.2251766G>T | CA403243270 | AMH | c.1492G>T (p.Asp498Tyr) | gnomAD v4 |
19 | g.2251767A>C | CA403243273 | AMH | c.1493A>C (p.Asp498Ala) | |
19 | g.2251767A>G | CA403243274 | AMH | c.1493A>G (p.Asp498Gly) | gnomAD v4 |
19 | g.2251767A>T | CA403243276 | AMH | c.1493A>T (p.Asp498Val) | |
19 | g.2251768C>A | CA403243278 | AMH | c.1494C>A (p.Asp498Glu) | |
19 | g.2251768C>G | CA403243279 | AMH | c.1494C>G (p.Asp498Glu) | |
19 | g.2251768C>T | CA505143848 | AMH | c.1494C>T (p.Asp498=) | gnomAD v4 |
19 | g.2251769C>A | CA403243284 | AMH | c.1495C>A (p.Arg499Ser) | gnomAD v4 |
19 | g.2251769C>G | CA403243282 | AMH | c.1495C>G (p.Arg499Gly) | gnomAD v4 |
19 | g.2251769C>T | CA403243281 | AMH | c.1495C>T (p.Arg499Cys) | gnomAD v4 |
19 | g.2251770G>A | CA304214245 | AMH | c.1496G>A (p.Arg499His) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251770G>C | CA403243287 | AMH | c.1496G>C (p.Arg499Pro) | |
19 | g.2251770G= | CA2318204536 | AMH | c.1496G= (p.Arg499=) | |
19 | g.2251770G>T | CA403243288 | AMH | c.1496G>T (p.Arg499Leu) | |
19 | g.2251771C>A | CA505143854 | AMH | c.1497C>A (p.Arg499=) | |
19 | g.2251771C>G | CA505143855 | AMH | c.1497C>G (p.Arg499=) | |
19 | g.2251771C>T | CA505143856 | AMH | c.1497C>T (p.Arg499=) | |
19 | g.2251772A>C | CA403243290 | AMH | c.1498A>C (p.Asn500His) | |
19 | g.2251772A>G | CA403243291 | AMH | c.1498A>G (p.Asn500Asp) | |
19 | g.2251772A>T | CA403243293 | AMH | c.1498A>T (p.Asn500Tyr) | |
19 | g.2251773A= | CA2318204537 | AMH | c.1499A= (p.Asn500=) | |
19 | g.2251773A>C | CA403243294 | AMH | c.1499A>C (p.Asn500Thr) | |
19 | g.2251773A>G | CA9063089 | AMH | c.1499A>G (p.Asn500Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251773A>T | CA403243296 | AMH | c.1499A>T (p.Asn500Ile) | |
19 | g.2251774C>A | CA403243299 | AMH | c.1500C>A (p.Asn500Lys) | |
19 | g.2251774C= | CA2318204538 | AMH | c.1500C= (p.Asn500=) | |
19 | g.2251774C>G | CA403243300 | AMH | c.1500C>G (p.Asn500Lys) | |
19 | g.2251774C>T | CA9063090 | AMH | c.1500C>T (p.Asn500=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251775C>A | CA403243302 | AMH | c.1501C>A (p.Pro501Thr) | |
19 | g.2251775C= | CA2318204539 | AMH | c.1501C= (p.Pro501=) | |
19 | g.2251775C>G | CA403243303 | AMH | c.1501C>G (p.Pro501Ala) | |
19 | g.2251775C>T | CA403243305 | AMH | c.1501C>T (p.Pro501Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251776C>A | CA403243306 | AMH | c.1502C>A (p.Pro501Gln) | gnomAD v4 |
19 | g.2251776C= | CA2318204540 | AMH | c.1502C= (p.Pro501=) | |
19 | g.2251776C>G | CA403243308 | AMH | c.1502C>G (p.Pro501Arg) | dbSNP gnomAD v4 |
19 | g.2251776C>T | CA403243310 | AMH | c.1502C>T (p.Pro501Leu) | |
19 | g.2251777G>A | CA505143875 | AMH | c.1503G>A (p.Pro501=) | dbSNP gnomAD v4 |
19 | g.2251777G>C | CA505143874 | AMH | c.1503G>C (p.Pro501=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251777G= | CA2318204541 | AMH | c.1503G= (p.Pro501=) | |
19 | g.2251777G>T | CA505143873 | AMH | c.1503G>T (p.Pro501=) | gnomAD v4 |
19 | g.2251778C>A | CA403243311 | AMH | c.1504C>A (p.Arg502Ser) | |
19 | g.2251778C= | CA2318204542 | AMH | c.1504C= (p.Arg502=) | |
19 | g.2251778C>G | CA403243313 | AMH | c.1504C>G (p.Arg502Gly) | |
19 | g.2251778C>T | CA9063091 | AMH | c.1504C>T (p.Arg502Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251779G>A | CA403243315 | AMH | c.1505G>A (p.Arg502His) | gnomAD v4 |
19 | g.2251779G>C | CA403243318 | AMH | c.1505G>C (p.Arg502Pro) | |
19 | g.2251779G= | CA2318204543 | AMH | c.1505G= (p.Arg502=) | |
19 | g.2251779G>T | CA9063092 | AMH | c.1505G>T (p.Arg502Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251780C>A | CA304214257 | AMH | c.1506C>A (p.Arg502=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251780C= | CA2318204544 | AMH | c.1506C= (p.Arg502=) | |
19 | g.2251780C>G | CA505143891 | AMH | c.1506C>G (p.Arg502=) | |
19 | g.2251780C>T | CA505143889 | AMH | c.1506C>T (p.Arg502=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251781T>A | CA403243319 | AMH | c.1507T>A (p.Tyr503Asn) | |
19 | g.2251781T>C | CA403243322 | AMH | c.1507T>C (p.Tyr503His) | gnomAD v4 |
19 | g.2251781T>G | CA403243320 | AMH | c.1507T>G (p.Tyr503Asp) | |
19 | g.2251782A>C | CA403243324 | AMH | c.1508A>C (p.Tyr503Ser) | |
19 | g.2251782A>G | CA403243327 | AMH | c.1508A>G (p.Tyr503Cys) | gnomAD v4 |
19 | g.2251782A>T | CA403243326 | AMH | c.1508A>T (p.Tyr503Phe) | |
19 | g.2251783C>A | CA403243329 | AMH | c.1509C>A (p.Tyr503Ter) | |
19 | g.2251783C= | CA2318204545 | AMH | c.1509C= (p.Tyr503=) | |
19 | g.2251783C>G | CA403243331 | AMH | c.1509C>G (p.Tyr503Ter) | |
19 | g.2251783C>T | CA505143902 | AMH | c.1509C>T (p.Tyr503=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251784G>A | CA403243332 | AMH | c.1510G>A (p.Gly504Ser) | |
19 | g.2251784G>C | CA403243334 | AMH | c.1510G>C (p.Gly504Arg) | gnomAD v4 |
19 | g.2251784G>T | CA403243335 | AMH | c.1510G>T (p.Gly504Cys) | gnomAD v4 |
19 | g.2251785G>A | CA403243337 | AMH | c.1511G>A (p.Gly504Asp) | gnomAD v4 |
19 | g.2251785G>C | CA403243339 | AMH | c.1511G>C (p.Gly504Ala) | dbSNP gnomAD v4 |
19 | g.2251785G= | CA2318204546 | AMH | c.1511G= (p.Gly504=) | |
19 | g.2251785G>T | CA403243340 | AMH | c.1511G>T (p.Gly504Val) | gnomAD v4 |
19 | g.2251786C>A | CA9063094 | AMH | c.1512C>A (p.Gly504=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251786C= | CA2318204547 | AMH | c.1512C= (p.Gly504=) | |
19 | g.2251786C>G | CA9063093 | AMH | c.1512C>G (p.Gly504=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251786C>T | CA505143909 | AMH | c.1512C>T (p.Gly504=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251787A= | CA2318204548 | AMH | c.1513A= (p.Asn505=) | |
19 | g.2251787A>C | CA403243346 | AMH | c.1513A>C (p.Asn505His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251787A>G | CA9063095 | AMH | c.1513A>G (p.Asn505Asp) | dbSNP ExAC gnomAD v2 |
19 | g.2251787A>T | CA403243343 | AMH | c.1513A>T (p.Asn505Tyr) | |
19 | g.2251788A>C | CA403243348 | AMH | c.1514A>C (p.Asn505Thr) | |
19 | g.2251788A>G | CA403243350 | AMH | c.1514A>G (p.Asn505Ser) | |
19 | g.2251788A>T | CA403243351 | AMH | c.1514A>T (p.Asn505Ile) | |
19 | g.2251789C>A | CA403243353 | AMH | c.1515C>A (p.Asn505Lys) | |
19 | g.2251789C= | CA2318204549 | AMH | c.1515C= (p.Asn505=) | |
19 | g.2251789C>G | CA403243354 | AMH | c.1515C>G (p.Asn505Lys) | |
19 | g.2251789C>T | CA9063096 | AMH | c.1515C>T (p.Asn505=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251790C>A | CA403243356 | AMH | c.1516C>A (p.His506Asn) | gnomAD v4 |
19 | g.2251790C>G | CA403243358 | AMH | c.1516C>G (p.His506Asp) | |
19 | g.2251790C>T | CA403243359 | AMH | c.1516C>T (p.His506Tyr) | gnomAD v4 |
19 | g.2251791A= | CA2318204550 | AMH | c.1517A= (p.His506=) | |
19 | g.2251791A>C | CA403243360 | AMH | c.1517A>C (p.His506Pro) | |
19 | g.2251791A>G | CA403243362 | AMH | c.1517A>G (p.His506Arg) | |
19 | g.2251791A>T | CA403243364 | AMH | c.1517A>T (p.His506Leu) | dbSNP |
19 | g.2251792C>A | CA403243366 | AMH | c.1518C>A (p.His506Gln) | |
19 | g.2251792C= | CA2318204551 | AMH | c.1518C= (p.His506=) | |
19 | g.2251792C>G | CA9063097 | AMH | c.1518C>G (p.His506Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251792C>T | CA505143924 | AMH | c.1518C>T (p.His506=) | |
19 | g.2251793G>A | CA403243368 | AMH | c.1519G>A (p.Val507Met) | gnomAD v4 |
19 | g.2251793G>C | CA403243370 | AMH | c.1519G>C (p.Val507Leu) | |
19 | g.2251793G>T | CA403243371 | AMH | c.1519G>T (p.Val507Leu) | gnomAD v4 |
19 | g.2251796_2251798dup | CA2695227991 | AMH | c.1522_1524dup (p.Val508_Leu509insVal) | |
19 | g.2251794T>A | CA403243372 | AMH | c.1520T>A (p.Val507Glu) | |
19 | g.2251794T>C | CA9063098 | AMH | c.1520T>C (p.Val507Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.2251794T>G | CA403243374 | AMH | c.1520T>G (p.Val507Gly) | |
19 | g.2251794T= | CA2318204552 | AMH | c.1520T= (p.Val507=) | |
19 | g.2251795G>A | CA505143935 | AMH | c.1521G>A (p.Val507=) | |
19 | g.2251795G>C | CA505143938 | AMH | c.1521G>C (p.Val507=) | |
19 | g.2251795G>T | CA505143940 | AMH | c.1521G>T (p.Val507=) | gnomAD v4 |
19 | g.2251796G>A | CA403243377 | AMH | c.1522G>A (p.Val508Met) | |
19 | g.2251796G>C | CA9063099 | AMH | c.1522G>C (p.Val508Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251796G= | CA2318204553 | AMH | c.1522G= (p.Val508=) | |
19 | g.2251796G>T | CA403243376 | AMH | c.1522G>T (p.Val508Leu) | gnomAD v4 |
19 | g.2251797T>A | CA403243378 | AMH | c.1523T>A (p.Val508Glu) | gnomAD v4 |
19 | g.2251797T>C | CA9063100 | AMH | c.1523T>C (p.Val508Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251797T>G | CA403243380 | AMH | c.1523T>G (p.Val508Gly) | |
19 | g.2251797T= | CA2318204554 | AMH | c.1523T= (p.Val508=) | |
19 | g.2251805_2251807del | CA2583853196 | AMH | c.1531_1533del (p.Leu511del) | gnomAD v4 |
19 | g.2251798G>A | CA505143944 | AMH | c.1524G>A (p.Val508=) | gnomAD v4 |
19 | g.2251798G>C | CA505143945 | AMH | c.1524G>C (p.Val508=) | |
19 | g.2251798G>T | CA505143947 | AMH | c.1524G>T (p.Val508=) | gnomAD v4 |
19 | g.2251799C>A | CA403243382 | AMH | c.1525C>A (p.Leu509Met) | |
19 | g.2251799C= | CA2318204555 | AMH | c.1525C= (p.Leu509=) | |
19 | g.2251799C>G | CA403243384 | AMH | c.1525C>G (p.Leu509Val) | |
19 | g.2251799C>T | CA505143951 | AMH | c.1525C>T (p.Leu509=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251800T>A | CA403243385 | AMH | c.1526T>A (p.Leu509Gln) | |
19 | g.2251800T>C | CA403243387 | AMH | c.1526T>C (p.Leu509Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251800T>G | CA9063101 | AMH | c.1526T>G (p.Leu509Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251800T= | CA2318204556 | AMH | c.1526T= (p.Leu509=) | |
19 | g.2251801G>A | CA505143954 | AMH | c.1527G>A (p.Leu509=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251801G>C | CA505143955 | AMH | c.1527G>C (p.Leu509=) | |
19 | g.2251801G= | CA2318204557 | AMH | c.1527G= (p.Leu509=) | |
19 | g.2251801G>T | CA505143958 | AMH | c.1527G>T (p.Leu509=) | gnomAD v4 |
19 | g.2251802C>A | CA403243389 | AMH | c.1528C>A (p.Leu510Met) | |
19 | g.2251802C>G | CA403243391 | AMH | c.1528C>G (p.Leu510Val) | |
19 | g.2251802C>T | CA505143960 | AMH | c.1528C>T (p.Leu510=) | |
19 | g.2251803T>A | CA403243392 | AMH | c.1529T>A (p.Leu510Gln) | |
19 | g.2251803T>C | CA403243393 | AMH | c.1529T>C (p.Leu510Pro) | |
19 | g.2251803T>G | CA403243395 | AMH | c.1529T>G (p.Leu510Arg) | |
19 | g.2251804G>A | CA505143964 | AMH | c.1530G>A (p.Leu510=) | |
19 | g.2251804G>C | CA505143962 | AMH | c.1530G>C (p.Leu510=) | gnomAD v4 |
19 | g.2251804G>T | CA505143961 | AMH | c.1530G>T (p.Leu510=) | gnomAD v4 |
19 | g.2251805C>A | CA9063102 | AMH | c.1531C>A (p.Leu511Met) | dbSNP ExAC COSMIC |
19 | g.2251805C= | CA2318204558 | AMH | c.1531C= (p.Leu511=) | |
19 | g.2251805C>G | CA403243397 | AMH | c.1531C>G (p.Leu511Val) | |
19 | g.2251805C>T | CA505143966 | AMH | c.1531C>T (p.Leu511=) | |
19 | g.2251806T>A | CA9063103 | AMH | c.1532T>A (p.Leu511Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251806T>C | CA403243399 | AMH | c.1532T>C (p.Leu511Pro) | gnomAD v4 |
19 | g.2251806T>G | CA403243400 | AMH | c.1532T>G (p.Leu511Arg) | |
19 | g.2251806T= | CA2318204559 | AMH | c.1532T= (p.Leu511=) | |
19 | g.2251807G>A | CA505143971 | AMH | c.1533G>A (p.Leu511=) | gnomAD v4 |
19 | g.2251807G>C | CA505143972 | AMH | c.1533G>C (p.Leu511=) | |
19 | g.2251807G= | CA2318204560 | AMH | c.1533G= (p.Leu511=) | |
19 | g.2251807G>T | CA505143974 | AMH | c.1533G>T (p.Leu511=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251808A>C | CA403243404 | AMH | c.1534A>C (p.Lys512Gln) | |
19 | g.2251808A>G | CA403243402 | AMH | c.1534A>G (p.Lys512Glu) | |
19 | g.2251808A>T | CA403243401 | AMH | c.1534A>T (p.Lys512Ter) | |
19 | g.2251809A>C | CA403243405 | AMH | c.1535A>C (p.Lys512Thr) | |
19 | g.2251809A>G | CA403243409 | AMH | c.1535A>G (p.Lys512Arg) | |
19 | g.2251809A>T | CA403243407 | AMH | c.1535A>T (p.Lys512Met) | |
19 | g.2251810G>A | CA505143978 | AMH | c.1536G>A (p.Lys512=) | gnomAD v4 |
19 | g.2251810G>C | CA403243410 | AMH | c.1536G>C (p.Lys512Asn) | |
19 | g.2251810G>T | CA403243411 | AMH | c.1536G>T (p.Lys512Asn) | gnomAD v4 |
19 | g.2251811A= | CA2318204561 | AMH | c.1537A= (p.Met513=) | |
19 | g.2251811A>C | CA403243413 | AMH | c.1537A>C (p.Met513Leu) | gnomAD v4 |
19 | g.2251811A>G | CA403243414 | AMH | c.1537A>G (p.Met513Val) | |
19 | g.2251811A>T | CA403243416 | AMH | c.1537A>T (p.Met513Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251812T>A | CA403243418 | AMH | c.1538T>A (p.Met513Lys) | |
19 | g.2251812T>C | CA9063104 | AMH | c.1538T>C (p.Met513Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251812T>G | CA403243420 | AMH | c.1538T>G (p.Met513Arg) | |
19 | g.2251812T= | CA2318204562 | AMH | c.1538T= (p.Met513=) | |
19 | g.2251812_2251813insCCTGCGCCCCT | CA992599253 | AMH | c.1538_1539insCCTGCGCCCCT (p.Met513IlefsTer?) | gnomAD v3 gnomAD v4 |
19 | g.2251813G>A | CA403243422 | AMH | c.1539G>A (p.Met513Ile) | gnomAD v4 |
19 | g.2251813G>C | CA403243423 | AMH | c.1539G>C (p.Met513Ile) | |
19 | g.2251813G= | CA2318204563 | AMH | c.1539G= (p.Met513=) | |
19 | g.2251813G>T | CA9063105 | AMH | c.1539G>T (p.Met513Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251814C>A | CA403243428 | AMH | c.1540C>A (p.Gln514Lys) | |
19 | g.2251814C= | CA2318204564 | AMH | c.1540C= (p.Gln514=) | |
19 | g.2251814C>G | CA403243425 | AMH | c.1540C>G (p.Gln514Glu) | |
19 | g.2251814C>T | CA403243427 | AMH | c.1540C>T (p.Gln514Ter) | dbSNP gnomAD v4 |
19 | g.2251815A>C | CA403243429 | AMH | c.1541A>C (p.Gln514Pro) | |
19 | g.2251815A>G | CA403243431 | AMH | c.1541A>G (p.Gln514Arg) | gnomAD v4 |
19 | g.2251815A>T | CA403243432 | AMH | c.1541A>T (p.Gln514Leu) | |
19 | g.2251815_2251816insC | CA992599257 | AMH | c.1541_1542insC (p.Gln514HisfsTer?) | gnomAD v3 gnomAD v4 |
19 | g.2251816G>A | CA505143984 | AMH | c.1542G>A (p.Gln514=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251816G>C | CA403243433 | AMH | c.1542G>C (p.Gln514His) | dbSNP |
19 | g.2251816G= | CA2318204565 | AMH | c.1542G= (p.Gln514=) | |
19 | g.2251816G>T | CA403243435 | AMH | c.1542G>T (p.Gln514His) | gnomAD v4 |
19 | g.2251816_2251817insACCCCAC | CA992599260 | AMH | c.1542_1543insACCCCAC (p.Val515ThrfsTer?) c.1542_1543insACCCCAC (p.Ala515ThrfsTer?) | gnomAD v3 gnomAD v4 |
19 | g.2251817G>A | CA304214313 | AMH | c.1543G>A (p.Val515Ile) c.1543G>A (p.Ala515Thr) | dbSNP |
19 | g.2251817G>C | CA403243437 | AMH | c.1543G>C (p.Val515Leu) c.1543G>C (p.Ala515Pro) | |
19 | g.2251817G= | CA2318204566 | AMH | c.1543G= (p.Val515=) c.1543G= (p.Ala515=) | |
19 | g.2251817G>T | CA403243439 | AMH | c.1543G>T (p.Val515Phe) c.1543G>T (p.Ala515Ser) | dbSNP gnomAD v4 |
19 | g.2251818T>A | CA403243440 | AMH | c.1544T>A (p.Val515Asp) | dbSNP gnomAD v4 |
19 | g.2251818T>C | CA9063106 | AMH | c.1544T>C (p.Val515Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251818T>G | CA403243442 | AMH | c.1544T>G (p.Val515Gly) | |
19 | g.2251818T= | CA2318204567 | AMH | c.1544T= (p.Val515=) | |
19 | g.2251819C>A | CA505143986 | AMH | c.1545C>A (p.Val515=) c.1545C>A (p.Ala515=) | dbSNP |
19 | g.2251819C= | CA2318204568 | AMH | c.1545C= (p.Val515=) c.1545C= (p.Ala515=) | |
19 | g.2251819C>G | CA505143987 | AMH | c.1545C>G (p.Val515=) c.1545C>G (p.Ala515=) | |
19 | g.2251819C>T | CA505143988 | AMH | c.1545C>T (p.Val515=) c.1545C>T (p.Ala515=) | |
19 | g.2251819_2251820insGGCGC | CA992599266 | AMH | c.1545_1546insGGCGC (p.Arg516GlyfsTer?) | gnomAD v3 gnomAD v4 |
19 | g.2251820C>A | CA403243446 | AMH | c.1546C>A (p.Arg516Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251820C= | CA2318204569 | AMH | c.1546C= (p.Arg516=) | |
19 | g.2251820C>G | CA403243447 | AMH | c.1546C>G (p.Arg516Gly) | gnomAD v4 |
19 | g.2251820C>T | CA403243444 | AMH | c.1546C>T (p.Arg516Cys) | dbSNP |
19 | g.2251821G>A | CA403243449 | AMH | c.1547G>A (p.Arg516His) | gnomAD v4 |
19 | g.2251821G>C | CA403243451 | AMH | c.1547G>C (p.Arg516Pro) | gnomAD v4 |
19 | g.2251821G= | CA2318204570 | AMH | c.1547G= (p.Arg516=) | |
19 | g.2251821G>T | CA9063107 | AMH | c.1547G>T (p.Arg516Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251822T>A | CA505143990 | AMH | c.1548T>A (p.Arg516=) | |
19 | g.2251822T>C | CA9063108 | AMH | c.1548T>C (p.Arg516=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251822T>G | CA505143993 | AMH | c.1548T>G (p.Arg516=) | |
19 | g.2251822T= | CA2318204571 | AMH | c.1548T= (p.Arg516=) | |
19 | g.2251823G>A | CA9063109 | AMH | c.1549G>A (p.Gly517Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251823G>C | CA403243454 | AMH | c.1549G>C (p.Gly517Arg) | |
19 | g.2251823G= | CA2318204572 | AMH | c.1549G= (p.Gly517=) | |
19 | g.2251823G>T | CA403243455 | AMH | c.1549G>T (p.Gly517Trp) | gnomAD v4 |
19 | g.2251826del | CA992599288 | AMH | c.1552del (p.Ala518ProfsTer?) | gnomAD v3 gnomAD v4 |
19 | g.2251824G>A | CA403243457 | AMH | c.1550G>A (p.Gly517Glu) | COSMIC |
19 | g.2251824G>C | CA9063110 | AMH | c.1550G>C (p.Gly517Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251824G= | CA2318204573 | AMH | c.1550G= (p.Gly517=) | |
19 | g.2251824G>T | CA403243459 | AMH | c.1550G>T (p.Gly517Val) | gnomAD v4 |
19 | g.2251825G>A | CA505143009 | AMH | c.1551G>A (p.Gly517=) | gnomAD v4 |
19 | g.2251825G>C | CA505143007 | AMH | c.1551G>C (p.Gly517=) | |
19 | g.2251825G= | CA2318204574 | AMH | c.1551G= (p.Gly517=) | |
19 | g.2251825G>T | CA505143008 | AMH | c.1551G>T (p.Gly517=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251826G>A | CA9063111 | AMH | c.1552G>A (p.Ala518Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251826G>C | CA403243461 | AMH | c.1552G>C (p.Ala518Pro) | |
19 | g.2251826G= | CA2318204575 | AMH | c.1552G= (p.Ala518=) | |
19 | g.2251826G>T | CA403243463 | AMH | c.1552G>T (p.Ala518Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251827C>A | CA403243467 | AMH | c.1553C>A (p.Ala518Asp) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251827C= | CA2318204576 | AMH | c.1553C= (p.Ala518=) | |
19 | g.2251827C>G | CA403243465 | AMH | c.1553C>G (p.Ala518Gly) | gnomAD v4 |
19 | g.2251827C>T | CA403243464 | AMH | c.1553C>T (p.Ala518Val) | dbSNP gnomAD v4 |
19 | g.2251828C>A | CA505143010 | AMH | c.1554C>A (p.Ala518=) | gnomAD v4 |
19 | g.2251828C= | CA2318204577 | AMH | c.1554C= (p.Ala518=) | |
19 | g.2251828C>G | CA505143011 | AMH | c.1554C>G (p.Ala518=) | dbSNP |
19 | g.2251828C>T | CA505143012 | AMH | c.1554C>T (p.Ala518=) | COSMIC |
19 | g.2251828_2251829insACG | CA992599309 | AMH | c.1554_1555insACG (p.Ala518_Ala519insThr) | gnomAD v3 gnomAD v4 |
19 | g.2251829G>A | CA403243469 | AMH | c.1555G>A (p.Ala519Thr) | gnomAD v4 |
19 | g.2251829G>C | CA403243471 | AMH | c.1555G>C (p.Ala519Pro) | |
19 | g.2251829G= | CA2318204578 | AMH | c.1555G= (p.Ala519=) | |
19 | g.2251829G>T | CA403243472 | AMH | c.1555G>T (p.Ala519Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251830C>A | CA403243473 | AMH | c.1556C>A (p.Ala519Asp) | |
19 | g.2251830C= | CA2318204579 | AMH | c.1556C= (p.Ala519=) | |
19 | g.2251830C>G | CA403243474 | AMH | c.1556C>G (p.Ala519Gly) | |
19 | g.2251830C>T | CA9063112 | AMH | c.1556C>T (p.Ala519Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251832del | CA2583853197 | AMH | c.1558del (p.Leu520TrpfsTer?) | gnomAD v4 |
19 | g.2251831C>A | CA505143015 | AMH | c.1557C>A (p.Ala519=) | gnomAD v4 |
19 | g.2251831C>G | CA505143013 | AMH | c.1557C>G (p.Ala519=) | |
19 | g.2251831C>T | CA505143014 | AMH | c.1557C>T (p.Ala519=) | |
19 | g.2251832C>A | CA403243475 | AMH | c.1558C>A (p.Leu520Met) | |
19 | g.2251832C= | CA2318204580 | AMH | c.1558C= (p.Leu520=) | |
19 | g.2251832C>G | CA403243476 | AMH | c.1558C>G (p.Leu520Val) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251832C>T | CA505143016 | AMH | c.1558C>T (p.Leu520=) | |
19 | g.2251833T>A | CA403243479 | AMH | c.1559T>A (p.Leu520Gln) | |
19 | g.2251833T>C | CA403243480 | AMH | c.1559T>C (p.Leu520Pro) | gnomAD v4 |
19 | g.2251833T>G | CA403243481 | AMH | c.1559T>G (p.Leu520Arg) | |
19 | g.2251834G>A | CA9063113 | AMH | c.1560G>A (p.Leu520=) | dbSNP ExAC gnomAD v2 |
19 | g.2251834G>C | CA505143017 | AMH | c.1560G>C (p.Leu520=) | |
19 | g.2251834G= | CA2318204581 | AMH | c.1560G= (p.Leu520=) | |
19 | g.2251834G>T | CA505143018 | AMH | c.1560G>T (p.Leu520=) | gnomAD v3 gnomAD v4 |
19 | g.2251835G>A | CA403243487 | AMH | c.1561G>A (p.Ala521Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251835G>C | CA403243485 | AMH | c.1561G>C (p.Ala521Pro) | gnomAD v4 |
19 | g.2251835G= | CA2318204582 | AMH | c.1561G= (p.Ala521=) | |
19 | g.2251835G>T | CA403243484 | AMH | c.1561G>T (p.Ala521Ser) | dbSNP |
19 | g.2251836C>A | CA403243488 | AMH | c.1562C>A (p.Ala521Glu) | dbSNP gnomAD v4 |
19 | g.2251836C= | CA2318204583 | AMH | c.1562C= (p.Ala521=) | |
19 | g.2251836C>G | CA403243491 | AMH | c.1562C>G (p.Ala521Gly) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251836C>T | CA9063114 | AMH | c.1562C>T (p.Ala521Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |