Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.2251585_2251599dup | CA2583853175 | AMH | c.1311_1325dup (p.Arg441_Asp442insGluTrpArgGlyArg) n.1664_1678dup | gnomAD v4 |
19 | g.2251591_2251596dup | CA2576558515 | AMH | c.1317_1322dup (p.Arg441_Asp442insGlyArg) n.1670_1675dup | gnomAD v4 |
19 | g.2251596_2251610dup | CA2576558516 | AMH | c.1322_1336dup (p.Gly445_Pro446insArgAspProArgGly) | gnomAD v4 |
19 | g.2251596_2251610del | CA2583853177 | AMH | c.1322_1336del (p.Arg441_Gly445del) | gnomAD v4 |
19 | g.2251599_2251614del | CA2695227990 | AMH | c.1325_1340del (p.Asp442ValfsTer23) | |
19 | g.2251596G>A | CA403242774 | AMH | c.1322G>A (p.Arg441Gln) n.1675G>A | dbSNP gnomAD v4 |
19 | g.2251596G>C | CA304214099 | AMH | c.1322G>C (p.Arg441Pro) n.1675G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251596G= | CA2318204428 | AMH | c.1322G= (p.Arg441=) n.1675G= | |
19 | g.2251596G>T | CA304214100 | AMH | c.1322G>T (p.Arg441Leu) n.1675G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251598del | CA2583853181 | AMH | c.1324del (p.Asp442IlefsTer28) n.1677del | gnomAD v4 |
19 | g.2251597G>A | CA304214104 | AMH | c.1323G>A (p.Arg441=) n.1676G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251597G>C | CA505143281 | AMH | c.1323G>C (p.Arg441=) n.1676G>C | |
19 | g.2251597G= | CA2318204429 | AMH | c.1323G= (p.Arg441=) n.1676G= | |
19 | g.2251597G>T | CA505143282 | AMH | c.1323G>T (p.Arg441=) n.1676G>T | gnomAD v4 |
19 | g.2251599_2251613dup | CA2583853182 | AMH | c.1325_1339dup (p.Pro446_Gly447insAspProArgGlyPro) | gnomAD v4 |
19 | g.2251598G>A | CA403242781 | AMH | c.1324G>A (p.Asp442Asn) n.1677G>A | gnomAD v4 |
19 | g.2251598G>C | CA403242779 | AMH | c.1324G>C (p.Asp442His) n.1677G>C | |
19 | g.2251598G>T | CA403242780 | AMH | c.1324G>T (p.Asp442Tyr) n.1677G>T | gnomAD v3 gnomAD v4 |
19 | g.2251599A>C | CA403242782 | AMH | c.1325A>C (p.Asp442Ala) n.1678A>C | |
19 | g.2251599A>G | CA403242784 | AMH | c.1325A>G (p.Asp442Gly) n.1678A>G | |
19 | g.2251599A>T | CA403242786 | AMH | c.1325A>T (p.Asp442Val) n.1678A>T | |
19 | g.2251601_2251602insGGCGCGGGCGGCATC | CA2583853183 | AMH | c.1327_1328insGGCGCGGGCGGCATC (p.Asp442_Pro443insArgArgGlyArgHis) n.1680_1681insGGCGCGGGCGGCATC | gnomAD v4 |
19 | g.2251600T>A | CA403242788 | AMH | c.1326T>A (p.Asp442Glu) n.1679T>A | gnomAD v4 |
19 | g.2251600T>C | CA505143286 | AMH | c.1326T>C (p.Asp442=) n.1679T>C | gnomAD v4 |
19 | g.2251600T>G | CA403242790 | AMH | c.1326T>G (p.Asp442Glu) n.1679T>G | |
19 | g.2251601C>A | CA403242791 | AMH | c.1327C>A (p.Pro443Thr) n.1680C>A | gnomAD v4 |
19 | g.2251601C>G | CA403242792 | AMH | c.1327C>G (p.Pro443Ala) n.1680C>G | |
19 | g.2251601C>T | CA403242793 | AMH | c.1327C>T (p.Pro443Ser) n.1680C>T | gnomAD v4 |
19 | g.2251602C>A | CA403242795 | AMH | c.1328C>A (p.Pro443Gln) n.1681C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251602C= | CA2318204430 | AMH | c.1328C= (p.Pro443=) n.1681C= | |
19 | g.2251602C>G | CA403242797 | AMH | c.1328C>G (p.Pro443Arg) n.1681C>G | |
19 | g.2251602C>T | CA403242798 | AMH | c.1328C>T (p.Pro443Leu) n.1681C>T | gnomAD v4 |
19 | g.2251602_2251628delinsCGCGCGGGCCGGGTCGGGCACAGCGCA | CA2318204431 | AMH | c.1328_1354delinsCGCGCGGGCCGGGTCGGGCACAGCGCA (p.Pro443=) | |
19 | g.2251603G>A | CA505143290 | AMH | c.1329G>A (p.Pro443=) n.1682G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251603G>C | CA505143291 | AMH | c.1329G>C (p.Pro443=) n.1682G>C | |
19 | g.2251603G= | CA2318204432 | AMH | c.1329G= (p.Pro443=) n.1682G= | |
19 | g.2251603G>T | CA505143292 | AMH | c.1329G>T (p.Pro443=) n.1682G>T | gnomAD v4 |
19 | g.2251604_2251608del | CA2583853184 | AMH | c.1330_1334del (p.Arg444AlafsTer?) | gnomAD v4 |
19 | g.2251610_2251635del | CA992599124 | AMH | c.1336_1361del (p.Pro446GlyfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251604C>A | CA403242804 | AMH | c.1330C>A (p.Arg444Ser) n.1683C>A | gnomAD v4 |
19 | g.2251604C>G | CA403242802 | AMH | c.1330C>G (p.Arg444Gly) n.1683C>G | |
19 | g.2251604C>T | CA403242801 | AMH | c.1330C>T (p.Arg444Cys) n.1683C>T | gnomAD v4 |
19 | g.2251605G>A | CA403242806 | AMH | c.1331G>A (p.Arg444His) n.1684G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251605G>C | CA403242808 | AMH | c.1331G>C (p.Arg444Pro) n.1684G>C | |
19 | g.2251605G= | CA2318204433 | AMH | c.1331G= (p.Arg444=) n.1684G= | |
19 | g.2251605G>T | CA304214106 | AMH | c.1331G>T (p.Arg444Leu) n.1684G>T | dbSNP gnomAD v4 |
19 | g.2251606C>A | CA505143296 | AMH | c.1332C>A (p.Arg444=) n.1685C>A | gnomAD v4 |
19 | g.2251606C= | CA2318204434 | AMH | c.1332C= (p.Arg444=) n.1685C= | |
19 | g.2251606C>G | CA505143298 | AMH | c.1332C>G (p.Arg444=) n.1685C>G | |
19 | g.2251606C>T | CA505143297 | AMH | c.1332C>T (p.Arg444=) n.1685C>T | dbSNP gnomAD v4 |
19 | g.2251607G>A | CA403242810 | AMH | c.1333G>A (p.Gly445Arg) n.1686G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251607G>C | CA403242811 | AMH | c.1333G>C (p.Gly445Arg) n.1686G>C | gnomAD v4 |
19 | g.2251607G= | CA2318204435 | AMH | c.1333G= (p.Gly445=) n.1686G= | |
19 | g.2251607G>T | CA403242813 | AMH | c.1333G>T (p.Gly445Trp) n.1686G>T | gnomAD v4 |
19 | g.2251609del | CA2583853185 | AMH | c.1335del (p.Pro446ArgfsTer24) | gnomAD v4 |
19 | g.2251608G>A | CA9063047 | AMH | c.1334G>A (p.Gly445Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251608G>C | CA403242815 | AMH | c.1334G>C (p.Gly445Ala) | |
19 | g.2251608G= | CA2318204436 | AMH | c.1334G= (p.Gly445=) | |
19 | g.2251608G>T | CA403242816 | AMH | c.1334G>T (p.Gly445Val) | gnomAD v4 |
19 | g.2251609G>A | CA505143302 | AMH | c.1335G>A (p.Gly445=) | dbSNP gnomAD v4 |
19 | g.2251609G>C | CA505143303 | AMH | c.1335G>C (p.Gly445=) | |
19 | g.2251609G= | CA2318204437 | AMH | c.1335G= (p.Gly445=) | |
19 | g.2251609G>T | CA505143304 | AMH | c.1335G>T (p.Gly445=) | gnomAD v4 |
19 | g.2251610C>A | CA403242818 | AMH | c.1336C>A (p.Pro446Thr) | gnomAD v4 |
19 | g.2251610C>G | CA403242820 | AMH | c.1336C>G (p.Pro446Ala) | |
19 | g.2251610C>T | CA403242821 | AMH | c.1336C>T (p.Pro446Ser) | gnomAD v4 |
19 | g.2251611C>A | CA403242824 | AMH | c.1337C>A (p.Pro446Gln) | gnomAD v4 |
19 | g.2251611C>G | CA403242826 | AMH | c.1337C>G (p.Pro446Arg) | |
19 | g.2251611C>T | CA403242823 | AMH | c.1337C>T (p.Pro446Leu) | gnomAD v4 |
19 | g.2251612G>A | CA505143308 | AMH | c.1338G>A (p.Pro446=) | dbSNP gnomAD v4 |
19 | g.2251612G>C | CA505143309 | AMH | c.1338G>C (p.Pro446=) | gnomAD v4 |
19 | g.2251612G>T | CA505143310 | AMH | c.1338G>T (p.Pro446=) | gnomAD v4 |
19 | g.2251614del | CA2583853186 | AMH | c.1340del (p.Gly447ValfsTer23) | gnomAD v4 |
19 | g.2251612_2251615delinsGGGT | CA2318204438 | AMH | c.1338_1341delinsGGGT (p.Pro446=) | |
19 | g.2251613G>A | CA403242828 | AMH | c.1339G>A (p.Gly447Ser) | gnomAD v4 |
19 | g.2251613G>C | CA403242830 | AMH | c.1339G>C (p.Gly447Arg) | gnomAD v4 |
19 | g.2251613G>T | CA403242831 | AMH | c.1339G>T (p.Gly447Cys) | gnomAD v4 |
19 | g.2251613_2251615del | CA9063048 | AMH | c.1339_1341del (p.Gly447del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251614G>A | CA403242836 | AMH | c.1340G>A (p.Gly447Asp) | |
19 | g.2251614G>C | CA403242835 | AMH | c.1340G>C (p.Gly447Ala) | gnomAD v4 |
19 | g.2251614G>T | CA403242833 | AMH | c.1340G>T (p.Gly447Val) | |
19 | g.2251615T>A | CA505143313 | AMH | c.1341T>A (p.Gly447=) | |
19 | g.2251615T>C | CA505143315 | AMH | c.1341T>C (p.Gly447=) | |
19 | g.2251615T>G | CA505143314 | AMH | c.1341T>G (p.Gly447=) | |
19 | g.2251616C>A | CA505143316 | AMH | c.1342C>A (p.Arg448=) | dbSNP gnomAD v4 |
19 | g.2251616C= | CA2318204439 | AMH | c.1342C= (p.Arg448=) | |
19 | g.2251616C>G | CA403242838 | AMH | c.1342C>G (p.Arg448Gly) | |
19 | g.2251616C>T | CA403242839 | AMH | c.1342C>T (p.Arg448Trp) | gnomAD v4 |
19 | g.2251617G>A | CA403242841 | AMH | c.1343G>A (p.Arg448Gln) | gnomAD v4 |
19 | g.2251617G>C | CA403242843 | AMH | c.1343G>C (p.Arg448Pro) | gnomAD v4 |
19 | g.2251617G>T | CA403242844 | AMH | c.1343G>T (p.Arg448Leu) | gnomAD v4 |
19 | g.2251617_2251692delinsGGGCACAGCGCAGCGCGGGGGCCACCGCCGCCGACGGGCCGTGCGCGCTGCGCGAGCTCAGCGTAGACCTCCGCGC | CA2318204440 | AMH | c.1343_1418delinsGGGCACAGCGCAGCGCGGGGGCCACCGCCGCCGACGGGCCGTGCGCGCTGCGCGAGCTCAGCGTAGACCTCCGCGC (p.Arg448=) | |
19 | g.2251618G>A | CA9063050 | AMH | c.1344G>A (p.Arg448=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251618G>C | CA505143319 | AMH | c.1344G>C (p.Arg448=) | |
19 | g.2251618G= | CA2318204441 | AMH | c.1344G= (p.Arg448=) | |
19 | g.2251618G>T | CA505143320 | AMH | c.1344G>T (p.Arg448=) | gnomAD v4 |
19 | g.2251618_2251692del | CA9063049 | AMH | c.1344_1418del (p.Ala449_Ala473del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251619G>A | CA304214118 | AMH | c.1345G>A (p.Ala449Thr) | dbSNP gnomAD v4 |
19 | g.2251619G>C | CA403242848 | AMH | c.1345G>C (p.Ala449Pro) | |
19 | g.2251619G= | CA2318204442 | AMH | c.1345G= (p.Ala449=) | |
19 | g.2251619G>T | CA403242846 | AMH | c.1345G>T (p.Ala449Ser) | gnomAD v4 |
19 | g.2251620C>A | CA403242850 | AMH | c.1346C>A (p.Ala449Glu) | gnomAD v4 |
19 | g.2251620C= | CA2318204443 | AMH | c.1346C= (p.Ala449=) | |
19 | g.2251620C>G | CA403242853 | AMH | c.1346C>G (p.Ala449Gly) | |
19 | g.2251620C>T | CA403242851 | AMH | c.1346C>T (p.Ala449Val) | dbSNP gnomAD v4 |
19 | g.2251621A= | CA2318204444 | AMH | c.1347A= (p.Ala449=) | |
19 | g.2251621A>C | CA505143324 | AMH | c.1347A>C (p.Ala449=) | |
19 | g.2251621A>G | CA505143325 | AMH | c.1347A>G (p.Ala449=) | gnomAD v4 |
19 | g.2251621A>T | CA505143326 | AMH | c.1347A>T (p.Ala449=) | |
19 | g.2251622C>A | CA403242855 | AMH | c.1348C>A (p.Gln450Lys) | gnomAD v4 |
19 | g.2251622C>G | CA403242858 | AMH | c.1348C>G (p.Gln450Glu) | |
19 | g.2251622C>T | CA403242856 | AMH | c.1348C>T (p.Gln450Ter) | gnomAD v4 |
19 | g.2251628_2251632dup | CA2318204445 | AMH | c.1354_1358dup (p.Gly454AlafsTer18) | dbSNP |
19 | g.2251623A= | CA2318204446 | AMH | c.1349A= (p.Gln450=) | |
19 | g.2251623A>C | CA403242860 | AMH | c.1349A>C (p.Gln450Pro) | dbSNP |
19 | g.2251623A>G | CA403242863 | AMH | c.1349A>G (p.Gln450Arg) | |
19 | g.2251623A>T | CA403242862 | AMH | c.1349A>T (p.Gln450Leu) | gnomAD v4 |
19 | g.2251624G>A | CA505143328 | AMH | c.1350G>A (p.Gln450=) | |
19 | g.2251624G>C | CA403242864 | AMH | c.1350G>C (p.Gln450His) | |
19 | g.2251624G>T | CA403242866 | AMH | c.1350G>T (p.Gln450His) | |
19 | g.2251625C>A | CA403242868 | AMH | c.1351C>A (p.Arg451Ser) | |
19 | g.2251625C= | CA2318204447 | AMH | c.1351C= (p.Arg451=) | |
19 | g.2251625C>G | CA403242869 | AMH | c.1351C>G (p.Arg451Gly) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251625C>T | CA403242871 | AMH | c.1351C>T (p.Arg451Cys) | gnomAD v4 |
19 | g.2251626G>A | CA403242872 | AMH | c.1352G>A (p.Arg451His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251626G>C | CA403242874 | AMH | c.1352G>C (p.Arg451Pro) | |
19 | g.2251626G= | CA2318204448 | AMH | c.1352G= (p.Arg451=) | |
19 | g.2251626G>T | CA403242876 | AMH | c.1352G>T (p.Arg451Leu) | |
19 | g.2251627C>A | CA505143332 | AMH | c.1353C>A (p.Arg451=) | gnomAD v4 |
19 | g.2251627C= | CA2318204449 | AMH | c.1353C= (p.Arg451=) | |
19 | g.2251627C>G | CA505143333 | AMH | c.1353C>G (p.Arg451=) | |
19 | g.2251627C>T | CA505143334 | AMH | c.1353C>T (p.Arg451=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251628A>C | CA403242877 | AMH | c.1354A>C (p.Ser452Arg) | |
19 | g.2251628A>G | CA403242879 | AMH | c.1354A>G (p.Ser452Gly) | |
19 | g.2251628A>T | CA403242880 | AMH | c.1354A>T (p.Ser452Cys) | |
19 | g.2251629G>A | CA403242886 | AMH | c.1355G>A (p.Ser452Asn) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251629G>C | CA403242882 | AMH | c.1355G>C (p.Ser452Thr) | |
19 | g.2251629G= | CA2318204450 | AMH | c.1355G= (p.Ser452=) | |
19 | g.2251629G>T | CA403242884 | AMH | c.1355G>T (p.Ser452Ile) | |
19 | g.2251630C>A | CA403242887 | AMH | c.1356C>A (p.Ser452Arg) | gnomAD v4 |
19 | g.2251630C= | CA2318204451 | AMH | c.1356C= (p.Ser452=) | |
19 | g.2251630C>G | CA403242888 | AMH | c.1356C>G (p.Ser452Arg) | |
19 | g.2251630C>T | CA505143337 | AMH | c.1356C>T (p.Ser452=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251631G>A | CA403242890 | AMH | c.1357G>A (p.Ala453Thr) | |
19 | g.2251631G>C | CA403242892 | AMH | c.1357G>C (p.Ala453Pro) | |
19 | g.2251631G>T | CA403242894 | AMH | c.1357G>T (p.Ala453Ser) | |
19 | g.2251632C>A | CA403242896 | AMH | c.1358C>A (p.Ala453Glu) | |
19 | g.2251632C= | CA2318204452 | AMH | c.1358C= (p.Ala453=) | |
19 | g.2251632C>G | CA403242897 | AMH | c.1358C>G (p.Ala453Gly) | |
19 | g.2251632C>T | CA403242899 | AMH | c.1358C>T (p.Ala453Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251633G>A | CA9063051 | AMH | c.1359G>A (p.Ala453=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251633G>C | CA505143341 | AMH | c.1359G>C (p.Ala453=) | dbSNP |
19 | g.2251633G= | CA2318204453 | AMH | c.1359G= (p.Ala453=) | |
19 | g.2251633G>T | CA9063052 | AMH | c.1359G>T (p.Ala453=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251637dup | CA2583853187 | AMH | c.1363dup (p.Ala455GlyfsTer?) | gnomAD v4 |
19 | g.2251637del | CA2583853188 | AMH | c.1363del (p.Ala455ProfsTer15) | gnomAD v4 |
19 | g.2251634G>A | CA403242903 | AMH | c.1360G>A (p.Gly454Arg) | gnomAD v4 |
19 | g.2251634G>C | CA403242904 | AMH | c.1360G>C (p.Gly454Arg) | |
19 | g.2251634G>T | CA403242901 | AMH | c.1360G>T (p.Gly454Trp) | |
19 | g.2251635G>A | CA9063053 | AMH | c.1361G>A (p.Gly454Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251635G>C | CA403242907 | AMH | c.1361G>C (p.Gly454Ala) | gnomAD v4 |
19 | g.2251635G= | CA2318204454 | AMH | c.1361G= (p.Gly454=) | |
19 | g.2251635G>T | CA403242908 | AMH | c.1361G>T (p.Gly454Val) | gnomAD v4 |
19 | g.2251636G>A | CA505143345 | AMH | c.1362G>A (p.Gly454=) | gnomAD v4 |
19 | g.2251636G>C | CA505143346 | AMH | c.1362G>C (p.Gly454=) | |
19 | g.2251636G>T | CA505143347 | AMH | c.1362G>T (p.Gly454=) | gnomAD v4 |
19 | g.2251636_2251637insA | CA2583853189 | AMH | c.1362_1363insA (p.Ala455SerfsTer?) | gnomAD v4 |
19 | g.2251637G>A | CA403242910 | AMH | c.1363G>A (p.Ala455Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251637G>C | CA9063054 | AMH | c.1363G>C (p.Ala455Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251637G= | CA2318204455 | AMH | c.1363G= (p.Ala455=) | |
19 | g.2251637G>T | CA403242913 | AMH | c.1363G>T (p.Ala455Ser) | gnomAD v4 |
19 | g.2251637_2251639dup | CA2583853190 | AMH | c.1363_1365dup (p.Ala455_Thr456insAla) | gnomAD v4 |
19 | g.2251638C>A | CA403242914 | AMH | c.1364C>A (p.Ala455Asp) | |
19 | g.2251638C>G | CA403242916 | AMH | c.1364C>G (p.Ala455Gly) | |
19 | g.2251638C>T | CA403242917 | AMH | c.1364C>T (p.Ala455Val) | gnomAD v4 |
19 | g.2251638_2251657delinsCCACCGCCGCCGACGGGCCG | CA2318204456 | AMH | c.1364_1383delinsCCACCGCCGCCGACGGGCCG (p.Ala455=) | |
19 | g.2251638_2251689delinsCCACCGCCGCCGACGGGCCGTGCGCGCTGCGCGAGCTCAGCGTAGACCTCCG | CA2318204457 | AMH | c.1364_1415delinsCCACCGCCGCCGACGGGCCGTGCGCGCTGCGCGAGCTCAGCGTAGACCTCCG (p.Ala455=) | |
19 | g.2251639C>A | CA505143350 | AMH | c.1365C>A (p.Ala455=) | |
19 | g.2251639C= | CA2318204459 | AMH | c.1365C= (p.Ala455=) | |
19 | g.2251639C>G | CA505143351 | AMH | c.1365C>G (p.Ala455=) | |
19 | g.2251639C>T | CA9063056 | AMH | c.1365C>T (p.Ala455=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251639_2251657del | CA9063055 | AMH | c.1365_1383del (p.Thr456AlafsTer8) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251640_2251690del | CA2318204458 | AMH | c.1366_1416del (p.Thr456_Arg472del) | dbSNP |
19 | g.2251640del | CA2583853191 | AMH | c.1366del (p.Thr456ProfsTer14) | gnomAD v4 |
19 | g.2251640A= | CA2318204460 | AMH | c.1366A= (p.Thr456=) | |
19 | g.2251640A>C | CA403242920 | AMH | c.1366A>C (p.Thr456Pro) | dbSNP |
19 | g.2251640A>G | CA304214130 | AMH | c.1366A>G (p.Thr456Ala) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251640A>T | CA403242919 | AMH | c.1366A>T (p.Thr456Ser) | |
19 | g.2251641C>A | CA403242921 | AMH | c.1367C>A (p.Thr456Asn) | |
19 | g.2251641C= | CA2318204461 | AMH | c.1367C= (p.Thr456=) | |
19 | g.2251641C>G | CA403242923 | AMH | c.1367C>G (p.Thr456Ser) | |
19 | g.2251641C>T | CA9063057 | AMH | c.1367C>T (p.Thr456Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251647_2251649del | CA2583853192 | AMH | c.1373_1375del (p.Ala458del) | gnomAD v4 |
19 | g.2251642C>A | CA505143356 | AMH | c.1368C>A (p.Thr456=) | gnomAD v4 |
19 | g.2251642C= | CA2318204462 | AMH | c.1368C= (p.Thr456=) | |
19 | g.2251642C>G | CA505143357 | AMH | c.1368C>G (p.Thr456=) | |
19 | g.2251642C>T | CA9063058 | AMH | c.1368C>T (p.Thr456=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251643G>A | CA403242927 | AMH | c.1369G>A (p.Ala457Thr) | dbSNP gnomAD v4 |
19 | g.2251643G>C | CA403242925 | AMH | c.1369G>C (p.Ala457Pro) | gnomAD v4 |
19 | g.2251643G= | CA2318204463 | AMH | c.1369G= (p.Ala457=) | |
19 | g.2251643G>T | CA9063059 | AMH | c.1369G>T (p.Ala457Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251644C>A | CA403242928 | AMH | c.1370C>A (p.Ala457Asp) | |
19 | g.2251644C>G | CA403242929 | AMH | c.1370C>G (p.Ala457Gly) | |
19 | g.2251644C>T | CA403242930 | AMH | c.1370C>T (p.Ala457Val) | |
19 | g.2251645C>A | CA505143361 | AMH | c.1371C>A (p.Ala457=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251645C= | CA2318204464 | AMH | c.1371C= (p.Ala457=) | |
19 | g.2251645C>G | CA505143362 | AMH | c.1371C>G (p.Ala457=) | dbSNP |
19 | g.2251645C>T | CA505143363 | AMH | c.1371C>T (p.Ala457=) | gnomAD v4 |
19 | g.2251646G>A | CA403242932 | AMH | c.1372G>A (p.Ala458Thr) | dbSNP gnomAD v4 |
19 | g.2251646G>C | CA403242934 | AMH | c.1372G>C (p.Ala458Pro) | |
19 | g.2251646G= | CA2318204465 | AMH | c.1372G= (p.Ala458=) | |
19 | g.2251646G>T | CA403242935 | AMH | c.1372G>T (p.Ala458Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251647C>A | CA403242940 | AMH | c.1373C>A (p.Ala458Asp) | dbSNP gnomAD v4 |
19 | g.2251647C= | CA2318204466 | AMH | c.1373C= (p.Ala458=) | |
19 | g.2251647C>G | CA403242938 | AMH | c.1373C>G (p.Ala458Gly) | gnomAD v4 |
19 | g.2251647C>T | CA9063060 | AMH | c.1373C>T (p.Ala458Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251648C>A | CA505143365 | AMH | c.1374C>A (p.Ala458=) | |
19 | g.2251648C>G | CA505143366 | AMH | c.1374C>G (p.Ala458=) | gnomAD v4 |
19 | g.2251648C>T | CA505143367 | AMH | c.1374C>T (p.Ala458=) | |
19 | g.2251649G>A | CA403242941 | AMH | c.1375G>A (p.Asp459Asn) | dbSNP gnomAD v4 |
19 | g.2251649G>C | CA403242944 | AMH | c.1375G>C (p.Asp459His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251649G= | CA2318204467 | AMH | c.1375G= (p.Asp459=) | |
19 | g.2251649G>T | CA403242943 | AMH | c.1375G>T (p.Asp459Tyr) | dbSNP gnomAD v4 |
19 | g.2251650A>C | CA403242946 | AMH | c.1376A>C (p.Asp459Ala) | |
19 | g.2251650A>G | CA403242948 | AMH | c.1376A>G (p.Asp459Gly) | |
19 | g.2251650A>T | CA403242949 | AMH | c.1376A>T (p.Asp459Val) | |
19 | g.2251651C>A | CA403242951 | AMH | c.1377C>A (p.Asp459Glu) | |
19 | g.2251651C= | CA2318204468 | AMH | c.1377C= (p.Asp459=) | |
19 | g.2251651C>G | CA403242952 | AMH | c.1377C>G (p.Asp459Glu) | dbSNP |
19 | g.2251651C>T | CA505143375 | AMH | c.1377C>T (p.Asp459=) | gnomAD v4 |
19 | g.2251652G>A | CA9063061 | AMH | c.1378G>A (p.Gly460Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251652G>C | CA9063062 | AMH | c.1378G>C (p.Gly460Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251652G= | CA2318204469 | AMH | c.1378G= (p.Gly460=) | |
19 | g.2251652G>T | CA403242955 | AMH | c.1378G>T (p.Gly460Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251653G>A | CA403242957 | AMH | c.1379G>A (p.Gly460Glu) | |
19 | g.2251653G>C | CA403242958 | AMH | c.1379G>C (p.Gly460Ala) | |
19 | g.2251653G>T | CA403242960 | AMH | c.1379G>T (p.Gly460Val) | gnomAD v4 |
19 | g.2251654G>A | CA505143378 | AMH | c.1380G>A (p.Gly460=) | gnomAD v4 |
19 | g.2251654G>C | CA505143379 | AMH | c.1380G>C (p.Gly460=) | |
19 | g.2251654G>T | CA505143380 | AMH | c.1380G>T (p.Gly460=) | |
19 | g.2251655C>A | CA403242964 | AMH | c.1381C>A (p.Pro461Thr) | gnomAD v4 |
19 | g.2251655C= | CA2318204470 | AMH | c.1381C= (p.Pro461=) | |
19 | g.2251655C>G | CA403242962 | AMH | c.1381C>G (p.Pro461Ala) | |
19 | g.2251655C>T | CA403242963 | AMH | c.1381C>T (p.Pro461Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251656C>A | CA403242966 | AMH | c.1382C>A (p.Pro461Gln) | gnomAD v4 |
19 | g.2251656C= | CA2318204471 | AMH | c.1382C= (p.Pro461=) | |
19 | g.2251656C>G | CA9063063 | AMH | c.1382C>G (p.Pro461Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251656C>T | CA403242968 | AMH | c.1382C>T (p.Pro461Leu) | gnomAD v4 |
19 | g.2251656_2251657insT | CA2583853193 | AMH | c.1382_1383insT (p.Cys462ValfsTer?) | gnomAD v4 |
19 | g.2251657G>A | CA9063064 | AMH | c.1383G>A (p.Pro461=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251657G>C | CA505143405 | AMH | c.1383G>C (p.Pro461=) | |
19 | g.2251657G= | CA2318204472 | AMH | c.1383G= (p.Pro461=) | |
19 | g.2251657G>T | CA505143407 | AMH | c.1383G>T (p.Pro461=) | gnomAD v4 |
19 | g.2251658T>A | CA403242971 | AMH | c.1384T>A (p.Cys462Ser) | |
19 | g.2251658T>C | CA403242972 | AMH | c.1384T>C (p.Cys462Arg) | dbSNP |
19 | g.2251658T>G | CA403242974 | AMH | c.1384T>G (p.Cys462Gly) | |
19 | g.2251658T= | CA2318204474 | AMH | c.1384T= (p.Cys462=) | |
19 | g.2251658_2251690delinsTGCGCGCTGCGCGAGCTCAGCGTAGACCTCCGC | CA2318204473 | AMH | c.1384_1416delinsTGCGCGCTGCGCGAGCTCAGCGTAGACCTCCGC (p.Cys462=) | |
19 | g.2251659G>A | CA403242976 | AMH | c.1385G>A (p.Cys462Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.2251659G>C | CA403242977 | AMH | c.1385G>C (p.Cys462Ser) | |
19 | g.2251659G= | CA2318204475 | AMH | c.1385G= (p.Cys462=) | |
19 | g.2251659G>T | CA403242979 | AMH | c.1385G>T (p.Cys462Phe) | gnomAD v4 |
19 | g.2251661_2251692del | CA9063065 | AMH | c.1387_1418del (p.Ala463ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251660C>A | CA9063066 | AMH | c.1386C>A (p.Cys462Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251660C= | CA2318204476 | AMH | c.1386C= (p.Cys462=) | |
19 | g.2251660C>G | CA403242981 | AMH | c.1386C>G (p.Cys462Trp) | gnomAD v4 |
19 | g.2251660C>T | CA505143420 | AMH | c.1386C>T (p.Cys462=) | gnomAD v4 |
19 | g.2251661G>A | CA403242983 | AMH | c.1387G>A (p.Ala463Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251661G>C | CA403242985 | AMH | c.1387G>C (p.Ala463Pro) | |
19 | g.2251661G= | CA2318204477 | AMH | c.1387G= (p.Ala463=) | |
19 | g.2251661G>T | CA403242986 | AMH | c.1387G>T (p.Ala463Ser) | |
19 | g.2251662C>A | CA403242987 | AMH | c.1388C>A (p.Ala463Glu) | |
19 | g.2251662C= | CA2318204478 | AMH | c.1388C= (p.Ala463=) | |
19 | g.2251662C>G | CA403242989 | AMH | c.1388C>G (p.Ala463Gly) | |
19 | g.2251662C>T | CA304214160 | AMH | c.1388C>T (p.Ala463Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251663G>A | CA9063068 | AMH | c.1389G>A (p.Ala463=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251663G>C | CA9063067 | AMH | c.1389G>C (p.Ala463=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251663G= | CA2318204479 | AMH | c.1389G= (p.Ala463=) | |
19 | g.2251663G>T | CA505143435 | AMH | c.1389G>T (p.Ala463=) | gnomAD v4 |
19 | g.2251664C>A | CA403242990 | AMH | c.1390C>A (p.Leu464Met) | |
19 | g.2251664C>G | CA403242992 | AMH | c.1390C>G (p.Leu464Val) | |
19 | g.2251664C>T | CA505143437 | AMH | c.1390C>T (p.Leu464=) | |
19 | g.2251665T>A | CA403242993 | AMH | c.1391T>A (p.Leu464Gln) | |
19 | g.2251665T>C | CA403242995 | AMH | c.1391T>C (p.Leu464Pro) | dbSNP gnomAD v4 |
19 | g.2251665T>G | CA403242996 | AMH | c.1391T>G (p.Leu464Arg) | |
19 | g.2251665T= | CA2318204480 | AMH | c.1391T= (p.Leu464=) | |
19 | g.2251666G>A | CA505143447 | AMH | c.1392G>A (p.Leu464=) | |
19 | g.2251666G>C | CA505143445 | AMH | c.1392G>C (p.Leu464=) | |
19 | g.2251666G>T | CA505143442 | AMH | c.1392G>T (p.Leu464=) | |
19 | g.2251667C>A | CA403243001 | AMH | c.1393C>A (p.Arg465Ser) | gnomAD v4 |
19 | g.2251667C>G | CA403242998 | AMH | c.1393C>G (p.Arg465Gly) | |
19 | g.2251667C>T | CA403243000 | AMH | c.1393C>T (p.Arg465Cys) | ClinVar dbSNP gnomAD v4 |
19 | g.2251668G>A | CA403243003 | AMH | c.1394G>A (p.Arg465His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251668G>C | CA403243004 | AMH | c.1394G>C (p.Arg465Pro) | |
19 | g.2251668G= | CA2318204481 | AMH | c.1394G= (p.Arg465=) | |
19 | g.2251668G>T | CA403243005 | AMH | c.1394G>T (p.Arg465Leu) | gnomAD v4 |
19 | g.2251669C>A | CA505143461 | AMH | c.1395C>A (p.Arg465=) | gnomAD v4 |
19 | g.2251669C>G | CA505143462 | AMH | c.1395C>G (p.Arg465=) | |
19 | g.2251669C>T | CA505143463 | AMH | c.1395C>T (p.Arg465=) | gnomAD v4 |
19 | g.2251670G>A | CA403243007 | AMH | c.1396G>A (p.Glu466Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251670G>C | CA403243009 | AMH | c.1396G>C (p.Glu466Gln) | dbSNP gnomAD v4 |
19 | g.2251670G= | CA2318204482 | AMH | c.1396G= (p.Glu466=) | |
19 | g.2251670G>T | CA403243010 | AMH | c.1396G>T (p.Glu466Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251671A>C | CA403243014 | AMH | c.1397A>C (p.Glu466Ala) | |
19 | g.2251671A>G | CA403243016 | AMH | c.1397A>G (p.Glu466Gly) | |
19 | g.2251671A>T | CA403243017 | AMH | c.1397A>T (p.Glu466Val) | |
19 | g.2251671_2251693dup | CA119788 | AMH | c.1397_1419dup (p.Glu474SerfsTer4) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251672G>A | CA505143483 | AMH | c.1398G>A (p.Glu466=) | gnomAD v4 |
19 | g.2251672G>C | CA403243020 | AMH | c.1398G>C (p.Glu466Asp) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251672G= | CA2318204483 | AMH | c.1398G= (p.Glu466=) | |
19 | g.2251672G>T | CA403243022 | AMH | c.1398G>T (p.Glu466Asp) | gnomAD v4 |
19 | g.2251673C>A | CA403243026 | AMH | c.1399C>A (p.Leu467Ile) | |
19 | g.2251673C>G | CA403243025 | AMH | c.1399C>G (p.Leu467Val) | |
19 | g.2251673C>T | CA403243023 | AMH | c.1399C>T (p.Leu467Phe) | gnomAD v4 |
19 | g.2251674T>A | CA403243029 | AMH | c.1400T>A (p.Leu467His) | |
19 | g.2251674T>C | CA403243028 | AMH | c.1400T>C (p.Leu467Pro) | |
19 | g.2251674T>G | CA403243030 | AMH | c.1400T>G (p.Leu467Arg) | |
19 | g.2251675C>A | CA505143494 | AMH | c.1401C>A (p.Leu467=) | |
19 | g.2251675C= | CA2318204484 | AMH | c.1401C= (p.Leu467=) | |
19 | g.2251675C>G | CA505143496 | AMH | c.1401C>G (p.Leu467=) | |
19 | g.2251675C>T | CA9063069 | AMH | c.1401C>T (p.Leu467=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251676A= | CA2318204485 | AMH | c.1402A= (p.Ser468=) | |
19 | g.2251676A>C | CA403243031 | AMH | c.1402A>C (p.Ser468Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251676A>G | CA403243033 | AMH | c.1402A>G (p.Ser468Gly) | |
19 | g.2251676A>T | CA403243034 | AMH | c.1402A>T (p.Ser468Cys) | |
19 | g.2251677G>A | CA403243036 | AMH | c.1403G>A (p.Ser468Asn) | |
19 | g.2251677G>C | CA403243038 | AMH | c.1403G>C (p.Ser468Thr) | |
19 | g.2251677G>T | CA403243039 | AMH | c.1403G>T (p.Ser468Ile) | |
19 | g.2251678C>A | CA403243041 | AMH | c.1404C>A (p.Ser468Arg) | |
19 | g.2251678C>G | CA403243043 | AMH | c.1404C>G (p.Ser468Arg) | |
19 | g.2251678C>T | CA505143507 | AMH | c.1404C>T (p.Ser468=) | |
19 | g.2251679G>A | CA304214172 | AMH | c.1405G>A (p.Val469Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251679G>C | CA403243045 | AMH | c.1405G>C (p.Val469Leu) | |
19 | g.2251679G= | CA2318204486 | AMH | c.1405G= (p.Val469=) | |
19 | g.2251679G>T | CA403243046 | AMH | c.1405G>T (p.Val469Leu) | gnomAD v4 |
19 | g.2251680T>A | CA403243049 | AMH | c.1406T>A (p.Val469Glu) | gnomAD v4 |
19 | g.2251680T>C | CA403243047 | AMH | c.1406T>C (p.Val469Ala) | |
19 | g.2251680T>G | CA403243048 | AMH | c.1406T>G (p.Val469Gly) | |
19 | g.2251681A= | CA2318204487 | AMH | c.1407A= (p.Val469=) | |
19 | g.2251681A>C | CA505143515 | AMH | c.1407A>C (p.Val469=) | |
19 | g.2251681A>G | CA505143517 | AMH | c.1407A>G (p.Val469=) | |
19 | g.2251681A>T | CA505143520 | AMH | c.1407A>T (p.Val469=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251682G>A | CA9063071 | AMH | c.1408G>A (p.Asp470Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251682G>C | CA9063070 | AMH | c.1408G>C (p.Asp470His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251682G= | CA2318204488 | AMH | c.1408G= (p.Asp470=) | |
19 | g.2251682G>T | CA403243050 | AMH | c.1408G>T (p.Asp470Tyr) | gnomAD v4 |
19 | g.2251683A>C | CA403243051 | AMH | c.1409A>C (p.Asp470Ala) | |
19 | g.2251683A>G | CA403243052 | AMH | c.1409A>G (p.Asp470Gly) | |
19 | g.2251683A>T | CA403243053 | AMH | c.1409A>T (p.Asp470Val) | |
19 | g.2251684C>A | CA403243054 | AMH | c.1410C>A (p.Asp470Glu) | dbSNP |
19 | g.2251684C= | CA2318204489 | AMH | c.1410C= (p.Asp470=) | |
19 | g.2251684C>G | CA403243055 | AMH | c.1410C>G (p.Asp470Glu) | |
19 | g.2251684C>T | CA9063072 | AMH | c.1410C>T (p.Asp470=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251685C>A | CA403243056 | AMH | c.1411C>A (p.Leu471Ile) | |
19 | g.2251685C>G | CA403243057 | AMH | c.1411C>G (p.Leu471Val) | gnomAD v4 |
19 | g.2251685C>T | CA403243058 | AMH | c.1411C>T (p.Leu471Phe) | gnomAD v4 |
19 | g.2251686T>A | CA403243061 | AMH | c.1412T>A (p.Leu471His) | |
19 | g.2251686T>C | CA403243060 | AMH | c.1412T>C (p.Leu471Pro) | gnomAD v4 |
19 | g.2251686T>G | CA403243059 | AMH | c.1412T>G (p.Leu471Arg) | |
19 | g.2251687C>A | CA505143533 | AMH | c.1413C>A (p.Leu471=) | |
19 | g.2251687C>G | CA505143534 | AMH | c.1413C>G (p.Leu471=) | |
19 | g.2251687C>T | CA505143537 | AMH | c.1413C>T (p.Leu471=) | |
19 | g.2251688C>A | CA403243064 | AMH | c.1414C>A (p.Arg472Ser) | gnomAD v4 |
19 | g.2251688C>G | CA403243062 | AMH | c.1414C>G (p.Arg472Gly) | gnomAD v4 |
19 | g.2251688C>T | CA403243063 | AMH | c.1414C>T (p.Arg472Cys) | gnomAD v4 |
19 | g.2251689G>A | CA403243065 | AMH | c.1415G>A (p.Arg472His) | |
19 | g.2251689G>C | CA403243066 | AMH | c.1415G>C (p.Arg472Pro) | |
19 | g.2251689G>T | CA403243067 | AMH | c.1415G>T (p.Arg472Leu) | |
19 | g.2251690C>A | CA505143550 | AMH | c.1416C>A (p.Arg472=) | gnomAD v4 |
19 | g.2251690C= | CA2318204490 | AMH | c.1416C= (p.Arg472=) | |
19 | g.2251690C>G | CA505143556 | AMH | c.1416C>G (p.Arg472=) | |
19 | g.2251690C>T | CA505143558 | AMH | c.1416C>T (p.Arg472=) | dbSNP gnomAD v4 |
19 | g.2251691G>A | CA403243070 | AMH | c.1417G>A (p.Ala473Thr) | dbSNP |
19 | g.2251691G>C | CA403243069 | AMH | c.1417G>C (p.Ala473Pro) | |
19 | g.2251691G= | CA2318204491 | AMH | c.1417G= (p.Ala473=) | |
19 | g.2251691G>T | CA403243068 | AMH | c.1417G>T (p.Ala473Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.2251692C>A | CA403243071 | AMH | c.1418C>A (p.Ala473Asp) | gnomAD v4 |
19 | g.2251692C>G | CA403243072 | AMH | c.1418C>G (p.Ala473Gly) | |
19 | g.2251692C>T | CA403243073 | AMH | c.1418C>T (p.Ala473Val) | dbSNP gnomAD v4 |
19 | g.2251693C>A | CA505143563 | AMH | c.1419C>A (p.Ala473=) | |
19 | g.2251693C= | CA2318204492 | AMH | c.1419C= (p.Ala473=) | |
19 | g.2251693C>G | CA505143561 | AMH | c.1419C>G (p.Ala473=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.2251693C>T | CA505143560 | AMH | c.1419C>T (p.Ala473=) | |
19 | g.2251694G>A | CA304214180 | AMH | c.1420G>A (p.Glu474Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.2251694G>C | CA403243074 | AMH | c.1420G>C (p.Glu474Gln) | gnomAD v4 |
19 | g.2251694G= | CA2318204493 | AMH | c.1420G= (p.Glu474=) | |
19 | g.2251694G>T | CA403243075 | AMH | c.1420G>T (p.Glu474Ter) | |
19 | g.2251695A= | CA2318204494 | AMH | c.1421A= (p.Glu474=) | |
19 | g.2251695A>C | CA403243076 | AMH | c.1421A>C (p.Glu474Ala) | |
19 | g.2251695A>G | CA403243078 | AMH | c.1421A>G (p.Glu474Gly) | dbSNP |
19 | g.2251695A>T | CA403243077 | AMH | c.1421A>T (p.Glu474Val) | |
19 | g.2251696G>A | CA9063073 | AMH | c.1422G>A (p.Glu474=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.2251696G>C | CA403243079 | AMH | c.1422G>C (p.Glu474Asp) | |
19 | g.2251696G= | CA2318204495 | AMH | c.1422G= (p.Glu474=) | |
19 | g.2251696G>T | CA403243080 | AMH | c.1422G>T (p.Glu474Asp) |