| 20 | g.49905826G>A | CA511018235 | SPATA2 | c.1356C>T (p.Pro452=)
| |
| 20 | g.49905826G>C | CA511018236 | SPATA2 | c.1356C>G (p.Pro452=)
| gnomAD v4 |
| 20 | g.49905826G>T | CA511018237 | SPATA2 | c.1356C>A (p.Pro452=)
| |
| 20 | g.49905828del | CA2653279973 | SPATA2 | c.1356del (p.Ser453ProfsTer?)
| gnomAD v4 |
| 20 | g.49905827G>A | CA408946137 | SPATA2 | c.1355C>T (p.Pro452Leu)
| |
| 20 | g.49905827G>C | CA408946133 | SPATA2 | c.1355C>G (p.Pro452Arg)
| |
| 20 | g.49905827G>T | CA408946135 | SPATA2 | c.1355C>A (p.Pro452His)
| |
| 20 | g.49905828G>A | CA408946140 | SPATA2 | c.1354C>T (p.Pro452Ser)
| |
| 20 | g.49905828G>C | CA408946142 | SPATA2 | c.1354C>G (p.Pro452Ala)
| |
| 20 | g.49905828G>T | CA408946144 | SPATA2 | c.1354C>A (p.Pro452Thr)
| |
| 20 | g.49905829_49905832del | CA2816621298 | SPATA2 | c.1351_1354del (p.Lys451ProfsTer?)
| |
| 20 | g.49905829C>A | CA408946149 | SPATA2 | c.1353G>T (p.Lys451Asn)
| |
| 20 | g.49905829C>G | CA408946152 | SPATA2 | c.1353G>C (p.Lys451Asn)
| |
| 20 | g.49905829C>T | CA511018240 | SPATA2 | c.1353G>A (p.Lys451=)
| |
| 20 | g.49905830T>A | CA408946156 | SPATA2 | c.1352A>T (p.Lys451Met)
| |
| 20 | g.49905830T>C | CA408946161 | SPATA2 | c.1352A>G (p.Lys451Arg)
| |
| 20 | g.49905830T>G | CA408946158 | SPATA2 | c.1352A>C (p.Lys451Thr)
| |
| 20 | g.49905831T>A | CA408946162 | SPATA2 | c.1351A>T (p.Lys451Ter)
| |
| 20 | g.49905831T>C | CA408946164 | SPATA2 | c.1351A>G (p.Lys451Glu)
| |
| 20 | g.49905831T>G | CA408946167 | SPATA2 | c.1351A>C (p.Lys451Gln)
| |
| 20 | g.49905832G>A | CA511018244 | SPATA2 | c.1350C>T (p.Ser450=)
| |
| 20 | g.49905832G>C | CA511018245 | SPATA2 | c.1350C>G (p.Ser450=)
| |
| 20 | g.49905832G>T | CA511018246 | SPATA2 | c.1350C>A (p.Ser450=)
| |
| 20 | g.49905833G>A | CA408946171 | SPATA2 | c.1349C>T (p.Ser450Phe)
| |
| 20 | g.49905833G>C | CA408946173 | SPATA2 | c.1349C>G (p.Ser450Cys)
| |
| 20 | g.49905833G>T | CA408946176 | SPATA2 | c.1349C>A (p.Ser450Tyr)
| |
| 20 | g.49905834A>C | CA408946179 | SPATA2 | c.1348T>G (p.Ser450Ala)
| |
| 20 | g.49905834A>G | CA408946180 | SPATA2 | c.1348T>C (p.Ser450Pro)
| |
| 20 | g.49905834A>T | CA408946181 | SPATA2 | c.1348T>A (p.Ser450Thr)
| |
| 20 | g.49905835T>A | CA408946183 | SPATA2 | c.1347A>T (p.Lys449Asn)
| COSMIC |
| 20 | g.49905835T>C | CA511018251 | SPATA2 | c.1347A>G (p.Lys449=)
| |
| 20 | g.49905835T>G | CA408946185 | SPATA2 | c.1347A>C (p.Lys449Asn)
| |
| 20 | g.49905836T>A | CA408946188 | SPATA2 | c.1346A>T (p.Lys449Ile)
| |
| 20 | g.49905836T>C | CA408946193 | SPATA2 | c.1346A>G (p.Lys449Arg)
| |
| 20 | g.49905836T>G | CA408946190 | SPATA2 | c.1346A>C (p.Lys449Thr)
| |
| 20 | g.49905837T>A | CA408946197 | SPATA2 | c.1345A>T (p.Lys449Ter)
| |
| 20 | g.49905837T>C | CA408946201 | SPATA2 | c.1345A>G (p.Lys449Glu)
| |
| 20 | g.49905837T>G | CA408946204 | SPATA2 | c.1345A>C (p.Lys449Gln)
| |
| 20 | g.49905838G>A | CA511018255 | SPATA2 | c.1344C>T (p.Ser448=)
| |
| 20 | g.49905838G>C | CA511018256 | SPATA2 | c.1344C>G (p.Ser448=)
| dbSNP |
| 20 | g.49905838G= | CA2368281312 | SPATA2 | c.1344C= (p.Ser448=)
| |
| 20 | g.49905838G>T | CA511018257 | SPATA2 | c.1344C>A (p.Ser448=)
| |
| 20 | g.49905839G>A | CA408946209 | SPATA2 | c.1343C>T (p.Ser448Phe)
| |
| 20 | g.49905839G>C | CA408946211 | SPATA2 | c.1343C>G (p.Ser448Cys)
| |
| 20 | g.49905839G= | CA2368281313 | SPATA2 | c.1343C= (p.Ser448=)
| |
| 20 | g.49905839G>T | CA408946212 | SPATA2 | c.1343C>A (p.Ser448Tyr)
| dbSNP gnomAD v4 |
| 20 | g.49905840A>C | CA408946216 | SPATA2 | c.1342T>G (p.Ser448Ala)
| |
| 20 | g.49905840A>G | CA408946218 | SPATA2 | c.1342T>C (p.Ser448Pro)
| gnomAD v4 |
| 20 | g.49905840A>T | CA408946222 | SPATA2 | c.1342T>A (p.Ser448Thr)
| ClinVar |
| 20 | g.49905841G>A | CA9904842 | SPATA2 | c.1341C>T (p.His447=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905841G>C | CA408946228 | SPATA2 | c.1341C>G (p.His447Gln)
| |
| 20 | g.49905841G= | CA2368281314 | SPATA2 | c.1341C= (p.His447=)
| |
| 20 | g.49905841G>T | CA408946231 | SPATA2 | c.1341C>A (p.His447Gln)
| COSMIC |
| 20 | g.49905842T>A | CA408946240 | SPATA2 | c.1340A>T (p.His447Leu)
| |
| 20 | g.49905842T>C | CA9904843 | SPATA2 | c.1340A>G (p.His447Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49905842T>G | CA408946237 | SPATA2 | c.1340A>C (p.His447Pro)
| |
| 20 | g.49905842T= | CA2368281315 | SPATA2 | c.1340A= (p.His447=)
| |
| 20 | g.49905843G>A | CA408946244 | SPATA2 | c.1339C>T (p.His447Tyr)
| gnomAD v4 |
| 20 | g.49905843G>C | CA408946247 | SPATA2 | c.1339C>G (p.His447Asp)
| |
| 20 | g.49905843G>T | CA408946250 | SPATA2 | c.1339C>A (p.His447Asn)
| |
| 20 | g.49905844A>C | CA511018258 | SPATA2 | c.1338T>G (p.Leu446=)
| gnomAD v4 |
| 20 | g.49905844A>G | CA511018260 | SPATA2 | c.1338T>C (p.Leu446=)
| gnomAD v4 |
| 20 | g.49905844A>T | CA511018261 | SPATA2 | c.1338T>A (p.Leu446=)
| |
| 20 | g.49905845A>C | CA408946254 | SPATA2 | c.1337T>G (p.Leu446Arg)
| |
| 20 | g.49905845A>G | CA408946256 | SPATA2 | c.1337T>C (p.Leu446Pro)
| |
| 20 | g.49905845A>T | CA408946260 | SPATA2 | c.1337T>A (p.Leu446His)
| |
| 20 | g.49905846G>A | CA408946262 | SPATA2 | c.1336C>T (p.Leu446Phe)
| |
| 20 | g.49905846G>C | CA408946264 | SPATA2 | c.1336C>G (p.Leu446Val)
| |
| 20 | g.49905846G>T | CA408946267 | SPATA2 | c.1336C>A (p.Leu446Ile)
| gnomAD v4 |
| 20 | g.49905847G>A | CA511018264 | SPATA2 | c.1335C>T (p.His445=)
| dbSNP gnomAD v4 |
| 20 | g.49905847G>C | CA408946273 | SPATA2 | c.1335C>G (p.His445Gln)
| |
| 20 | g.49905847G= | CA2368281316 | SPATA2 | c.1335C= (p.His445=)
| |
| 20 | g.49905847G>T | CA408946277 | SPATA2 | c.1335C>A (p.His445Gln)
| gnomAD v4 |
| 20 | g.49905848T>A | CA408946289 | SPATA2 | c.1334A>T (p.His445Leu)
| |
| 20 | g.49905848T>C | CA408946286 | SPATA2 | c.1334A>G (p.His445Arg)
| |
| 20 | g.49905848T>G | CA408946282 | SPATA2 | c.1334A>C (p.His445Pro)
| |
| 20 | g.49905849G>A | CA315121874 | SPATA2 | c.1333C>T (p.His445Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905849G>C | CA408946308 | SPATA2 | c.1333C>G (p.His445Asp)
| |
| 20 | g.49905849G= | CA2368281317 | SPATA2 | c.1333C= (p.His445=)
| |
| 20 | g.49905849G>T | CA9904844 | SPATA2 | c.1333C>A (p.His445Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49905850C>A | CA511018270 | SPATA2 | c.1332G>T (p.Pro444=)
| |
| 20 | g.49905850C= | CA2368281318 | SPATA2 | c.1332G= (p.Pro444=)
| |
| 20 | g.49905850C>G | CA511018271 | SPATA2 | c.1332G>C (p.Pro444=)
| |
| 20 | g.49905850C>T | CA9904845 | SPATA2 | c.1332G>A (p.Pro444=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.49905851G>A | CA9904846 | SPATA2 | c.1331C>T (p.Pro444Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905851G>C | CA408946312 | SPATA2 | c.1331C>G (p.Pro444Arg)
| |
| 20 | g.49905851G= | CA2368281319 | SPATA2 | c.1331C= (p.Pro444=)
| |
| 20 | g.49905851G>T | CA408946315 | SPATA2 | c.1331C>A (p.Pro444Gln)
| |
| 20 | g.49905852G>A | CA408946318 | SPATA2 | c.1330C>T (p.Pro444Ser)
| gnomAD v4 |
| 20 | g.49905852G>C | CA408946321 | SPATA2 | c.1330C>G (p.Pro444Ala)
| |
| 20 | g.49905852G>T | CA408946323 | SPATA2 | c.1330C>A (p.Pro444Thr)
| |
| 20 | g.49905853G>A | CA511018273 | SPATA2 | c.1329C>T (p.Leu443=)
| COSMIC |
| 20 | g.49905853G>C | CA511018275 | SPATA2 | c.1329C>G (p.Leu443=)
| |
| 20 | g.49905853G>T | CA511018274 | SPATA2 | c.1329C>A (p.Leu443=)
| |
| 20 | g.49905854A>C | CA408946327 | SPATA2 | c.1328T>G (p.Leu443Arg)
| |
| 20 | g.49905854A>G | CA408946329 | SPATA2 | c.1328T>C (p.Leu443Pro)
| |
| 20 | g.49905854A>T | CA408946333 | SPATA2 | c.1328T>A (p.Leu443His)
| |
| 20 | g.49905855G>A | CA9904847 | SPATA2 | c.1327C>T (p.Leu443Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.49905855G>C | CA408946337 | SPATA2 | c.1327C>G (p.Leu443Val)
| |
| 20 | g.49905855G= | CA2368281320 | SPATA2 | c.1327C= (p.Leu443=)
| |
| 20 | g.49905855G>T | CA408946340 | SPATA2 | c.1327C>A (p.Leu443Ile)
| |
| 20 | g.49905857_49905859del | CA2816621301 | SPATA2 | c.1325_1327del (p.Arg442del)
| |
| 20 | g.49905856G>A | CA511018279 | SPATA2 | c.1326C>T (p.Arg442=)
| |
| 20 | g.49905856G>C | CA511018280 | SPATA2 | c.1326C>G (p.Arg442=)
| |
| 20 | g.49905856G>T | CA511018281 | SPATA2 | c.1326C>A (p.Arg442=)
| |
| 20 | g.49905857C>A | CA9904848 | SPATA2 | c.1325G>T (p.Arg442Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905857C= | CA2368281321 | SPATA2 | c.1325G= (p.Arg442=)
| |
| 20 | g.49905857C>G | CA408946348 | SPATA2 | c.1325G>C (p.Arg442Pro)
| |
| 20 | g.49905857C>T | CA9904849 | SPATA2 | c.1325G>A (p.Arg442His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49905858G>A | CA9904850 | SPATA2 | c.1324C>T (p.Arg442Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905858G>C | CA408946351 | SPATA2 | c.1324C>G (p.Arg442Gly)
| gnomAD v4 |
| 20 | g.49905858G= | CA2368281322 | SPATA2 | c.1324C= (p.Arg442=)
| |
| 20 | g.49905858G>T | CA408946352 | SPATA2 | c.1324C>A (p.Arg442Ser)
| |
| 20 | g.49905858_49905859insAA | CA2816621304 | SPATA2 | c.1323_1324insTT (p.Arg442PhefsTer?)
| |
| 20 | g.49905859G>A | CA511018285 | SPATA2 | c.1323C>T (p.Asp441=)
| |
| 20 | g.49905859G>C | CA315121886 | SPATA2 | c.1323C>G (p.Asp441Glu)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905859G= | CA2368281323 | SPATA2 | c.1323C= (p.Asp441=)
| |
| 20 | g.49905859G>T | CA408946355 | SPATA2 | c.1323C>A (p.Asp441Glu)
| |
| 20 | g.49905868_49905934del | CA2816621305 | SPATA2 | c.1257_1323del (p.His420AlafsTer?)
| |
| 20 | g.49905860T>A | CA408946359 | SPATA2 | c.1322A>T (p.Asp441Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905860T>C | CA408946365 | SPATA2 | c.1322A>G (p.Asp441Gly)
| |
| 20 | g.49905860T>G | CA408946366 | SPATA2 | c.1322A>C (p.Asp441Ala)
| |
| 20 | g.49905860T= | CA2368281324 | SPATA2 | c.1322A= (p.Asp441=)
| |
| 20 | g.49905860_49905861insAC | CA2816621306 | SPATA2 | c.1321_1322insGT (p.Asp441GlyfsTer?)
| |
| 20 | g.49905861C>A | CA408946370 | SPATA2 | c.1321G>T (p.Asp441Tyr)
| |
| 20 | g.49905861C= | CA2368281325 | SPATA2 | c.1321G= (p.Asp441=)
| |
| 20 | g.49905861C>G | CA408946373 | SPATA2 | c.1321G>C (p.Asp441His)
| |
| 20 | g.49905861C>T | CA9904851 | SPATA2 | c.1321G>A (p.Asp441Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905862G>A | CA9904852 | SPATA2 | c.1320C>T (p.Leu440=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49905862G>C | CA511018288 | SPATA2 | c.1320C>G (p.Leu440=)
| |
| 20 | g.49905862G= | CA2368281326 | SPATA2 | c.1320C= (p.Leu440=)
| |
| 20 | g.49905862G>T | CA511018289 | SPATA2 | c.1320C>A (p.Leu440=)
| |
| 20 | g.49905863A>C | CA408946393 | SPATA2 | c.1319T>G (p.Leu440Arg)
| |
| 20 | g.49905863A>G | CA408946388 | SPATA2 | c.1319T>C (p.Leu440Pro)
| |
| 20 | g.49905863A>T | CA408946391 | SPATA2 | c.1319T>A (p.Leu440His)
| |
| 20 | g.49905864G>A | CA408946402 | SPATA2 | c.1318C>T (p.Leu440Phe)
| gnomAD v4 |
| 20 | g.49905864G>C | CA408946404 | SPATA2 | c.1318C>G (p.Leu440Val)
| gnomAD v4 |
| 20 | g.49905864G>T | CA408946406 | SPATA2 | c.1318C>A (p.Leu440Ile)
| |
| 20 | g.49905865G>A | CA511018293 | SPATA2 | c.1317C>T (p.Gly439=)
| |
| 20 | g.49905865G>C | CA511018295 | SPATA2 | c.1317C>G (p.Gly439=)
| |
| 20 | g.49905865G>T | CA511018294 | SPATA2 | c.1317C>A (p.Gly439=)
| |
| 20 | g.49905866C>A | CA408946411 | SPATA2 | c.1316G>T (p.Gly439Val)
| |
| 20 | g.49905866C>G | CA408946413 | SPATA2 | c.1316G>C (p.Gly439Ala)
| |
| 20 | g.49905866C>T | CA408946417 | SPATA2 | c.1316G>A (p.Gly439Asp)
| |
| 20 | g.49905867C>A | CA408946422 | SPATA2 | c.1315G>T (p.Gly439Cys)
| |
| 20 | g.49905867C>G | CA408946424 | SPATA2 | c.1315G>C (p.Gly439Arg)
| COSMIC |
| 20 | g.49905867C>T | CA408946427 | SPATA2 | c.1315G>A (p.Gly439Ser)
| |
| 20 | g.49905868C>A | CA408946432 | SPATA2 | c.1314G>T (p.Gln438His)
| |
| 20 | g.49905868C= | CA2368281327 | SPATA2 | c.1314G= (p.Gln438=)
| |
| 20 | g.49905868C>G | CA408946435 | SPATA2 | c.1314G>C (p.Gln438His)
| dbSNP gnomAD v4 |
| 20 | g.49905868C>T | CA511018297 | SPATA2 | c.1314G>A (p.Gln438=)
| |
| 20 | g.49905868_49905869del | CA2577424474 | SPATA2 | c.1313_1314del (p.Gln438ArgfsTer?)
| |
| 20 | g.49905868_49905870del | CA2816621307 | SPATA2 | c.1312_1314del (p.Gln438del)
| |
| 20 | g.49905869T>A | CA408946442 | SPATA2 | c.1313A>T (p.Gln438Leu)
| |
| 20 | g.49905869T>C | CA408946437 | SPATA2 | c.1313A>G (p.Gln438Arg)
| |
| 20 | g.49905869T>G | CA408946440 | SPATA2 | c.1313A>C (p.Gln438Pro)
| |
| 20 | g.49905870G>A | CA408946445 | SPATA2 | c.1312C>T (p.Gln438Ter)
| COSMIC |
| 20 | g.49905870G>C | CA9904853 | SPATA2 | c.1312C>G (p.Gln438Glu)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
| 20 | g.49905870G= | CA2368281328 | SPATA2 | c.1312C= (p.Gln438=)
| |
| 20 | g.49905870G>T | CA408946449 | SPATA2 | c.1312C>A (p.Gln438Lys)
| |
| 20 | g.49905871A>C | CA511018301 | SPATA2 | c.1311T>G (p.Thr437=)
| |
| 20 | g.49905871A>G | CA511018302 | SPATA2 | c.1311T>C (p.Thr437=)
| |
| 20 | g.49905871A>T | CA511018303 | SPATA2 | c.1311T>A (p.Thr437=)
| |
| 20 | g.49905872G>A | CA9904854 | SPATA2 | c.1310C>T (p.Thr437Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49905872G>C | CA408946456 | SPATA2 | c.1310C>G (p.Thr437Ser)
| gnomAD v4 |
| 20 | g.49905872G= | CA2368281329 | SPATA2 | c.1310C= (p.Thr437=)
| |
| 20 | g.49905872G>T | CA408946459 | SPATA2 | c.1310C>A (p.Thr437Asn)
| ClinVar |
| 20 | g.49905873T>A | CA408946463 | SPATA2 | c.1309A>T (p.Thr437Ser)
| |
| 20 | g.49905873T>C | CA408946466 | SPATA2 | c.1309A>G (p.Thr437Ala)
| |
| 20 | g.49905873T>G | CA408946469 | SPATA2 | c.1309A>C (p.Thr437Pro)
| |
| 20 | g.49905874C>A | CA408946473 | SPATA2 | c.1308G>T (p.Gln436His)
| gnomAD v4 |
| 20 | g.49905874C>G | CA408946474 | SPATA2 | c.1308G>C (p.Gln436His)
| |
| 20 | g.49905874C>T | CA511018305 | SPATA2 | c.1308G>A (p.Gln436=)
| gnomAD v4 |
| 20 | g.49905875T>A | CA408946483 | SPATA2 | c.1307A>T (p.Gln436Leu)
| |
| 20 | g.49905875T>C | CA408946481 | SPATA2 | c.1307A>G (p.Gln436Arg)
| gnomAD v4 |
| 20 | g.49905875T>G | CA408946479 | SPATA2 | c.1307A>C (p.Gln436Pro)
| |
| 20 | g.49905876G>A | CA408946486 | SPATA2 | c.1306C>T (p.Gln436Ter)
| |
| 20 | g.49905876G>C | CA408946492 | SPATA2 | c.1306C>G (p.Gln436Glu)
| |
| 20 | g.49905876G>T | CA408946489 | SPATA2 | c.1306C>A (p.Gln436Lys)
| |
| 20 | g.49905877G>A | CA511018309 | SPATA2 | c.1305C>T (p.Gly435=)
| |
| 20 | g.49905877G>C | CA511018310 | SPATA2 | c.1305C>G (p.Gly435=)
| |
| 20 | g.49905877G= | CA2368281330 | SPATA2 | c.1305C= (p.Gly435=)
| |
| 20 | g.49905877G>T | CA511018311 | SPATA2 | c.1305C>A (p.Gly435=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905878C>A | CA408946494 | SPATA2 | c.1304G>T (p.Gly435Val)
| |
| 20 | g.49905878C>G | CA408946495 | SPATA2 | c.1304G>C (p.Gly435Ala)
| |
| 20 | g.49905878C>T | CA408946496 | SPATA2 | c.1304G>A (p.Gly435Asp)
| |
| 20 | g.49905879C>A | CA408946498 | SPATA2 | c.1303G>T (p.Gly435Cys)
| |
| 20 | g.49905879C= | CA2368281331 | SPATA2 | c.1303G= (p.Gly435=)
| |
| 20 | g.49905879C>G | CA408946499 | SPATA2 | c.1303G>C (p.Gly435Arg)
| |
| 20 | g.49905879C>T | CA9904855 | SPATA2 | c.1303G>A (p.Gly435Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905880T>A | CA511018313 | SPATA2 | c.1302A>T (p.Pro434=)
| |
| 20 | g.49905880T>C | CA9904856 | SPATA2 | c.1302A>G (p.Pro434=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905880T>G | CA511018314 | SPATA2 | c.1302A>C (p.Pro434=)
| |
| 20 | g.49905880T= | CA2368281332 | SPATA2 | c.1302A= (p.Pro434=)
| |
| 20 | g.49905881G>A | CA408946502 | SPATA2 | c.1301C>T (p.Pro434Leu)
| |
| 20 | g.49905881G>C | CA408946504 | SPATA2 | c.1301C>G (p.Pro434Arg)
| |
| 20 | g.49905881G>T | CA408946506 | SPATA2 | c.1301C>A (p.Pro434Gln)
| |
| 20 | g.49905882G>A | CA408946507 | SPATA2 | c.1300C>T (p.Pro434Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905882G>C | CA9904857 | SPATA2 | c.1300C>G (p.Pro434Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905882G= | CA2368281333 | SPATA2 | c.1300C= (p.Pro434=)
| |
| 20 | g.49905882G>T | CA408946509 | SPATA2 | c.1300C>A (p.Pro434Thr)
| |
| 20 | g.49905883G>A | CA9904858 | SPATA2 | c.1299C>T (p.Tyr433=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49905883G>C | CA408946513 | SPATA2 | c.1299C>G (p.Tyr433Ter)
| |
| 20 | g.49905883G= | CA2368281334 | SPATA2 | c.1299C= (p.Tyr433=)
| |
| 20 | g.49905883G>T | CA408946512 | SPATA2 | c.1299C>A (p.Tyr433Ter)
| gnomAD v4 |
| 20 | g.49905884T>A | CA408946515 | SPATA2 | c.1298A>T (p.Tyr433Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905884T>C | CA408946517 | SPATA2 | c.1298A>G (p.Tyr433Cys)
| |
| 20 | g.49905884T>G | CA408946521 | SPATA2 | c.1298A>C (p.Tyr433Ser)
| |
| 20 | g.49905884T= | CA2368281335 | SPATA2 | c.1298A= (p.Tyr433=)
| |
| 20 | g.49905885A>C | CA408946523 | SPATA2 | c.1297T>G (p.Tyr433Asp)
| |
| 20 | g.49905885A>G | CA408946524 | SPATA2 | c.1297T>C (p.Tyr433His)
| |
| 20 | g.49905885A>T | CA408946525 | SPATA2 | c.1297T>A (p.Tyr433Asn)
| |
| 20 | g.49905886C>A | CA408946527 | SPATA2 | c.1296G>T (p.Lys432Asn)
| dbSNP |
| 20 | g.49905886C= | CA2368281336 | SPATA2 | c.1296G= (p.Lys432=)
| |
| 20 | g.49905886C>G | CA408946528 | SPATA2 | c.1296G>C (p.Lys432Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49905886C>T | CA511018320 | SPATA2 | c.1296G>A (p.Lys432=)
| |
| 20 | g.49905887T>A | CA408946530 | SPATA2 | c.1295A>T (p.Lys432Met)
| gnomAD v4 |
| 20 | g.49905887T>C | CA408946531 | SPATA2 | c.1295A>G (p.Lys432Arg)
| |
| 20 | g.49905887T>G | CA408946533 | SPATA2 | c.1295A>C (p.Lys432Thr)
| |
| 20 | g.49905888T>A | CA408946537 | SPATA2 | c.1294A>T (p.Lys432Ter)
| |
| 20 | g.49905888T>C | CA408946535 | SPATA2 | c.1294A>G (p.Lys432Glu)
| |
| 20 | g.49905888T>G | CA408946534 | SPATA2 | c.1294A>C (p.Lys432Gln)
| |
| 20 | g.49905889C>A | CA408946541 | SPATA2 | c.1293G>T (p.Glu431Asp)
| |
| 20 | g.49905889C>G | CA408946539 | SPATA2 | c.1293G>C (p.Glu431Asp)
| |
| 20 | g.49905889C>T | CA511018324 | SPATA2 | c.1293G>A (p.Glu431=)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905890T>A | CA408946544 | SPATA2 | c.1292A>T (p.Glu431Val)
| |
| 20 | g.49905890T>C | CA408946546 | SPATA2 | c.1292A>G (p.Glu431Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905890T>G | CA408946548 | SPATA2 | c.1292A>C (p.Glu431Ala)
| |
| 20 | g.49905890T= | CA2368281337 | SPATA2 | c.1292A= (p.Glu431=)
| |
| 20 | g.49905891C>A | CA408946549 | SPATA2 | c.1291G>T (p.Glu431Ter)
| |
| 20 | g.49905891C= | CA2368281338 | SPATA2 | c.1291G= (p.Glu431=)
| |
| 20 | g.49905891C>G | CA408946550 | SPATA2 | c.1291G>C (p.Glu431Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905891C>T | CA9904859 | SPATA2 | c.1291G>A (p.Glu431Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49905892C>A | CA511018325 | SPATA2 | c.1290G>T (p.Arg430=)
| gnomAD v4 |
| 20 | g.49905892C>G | CA511018326 | SPATA2 | c.1290G>C (p.Arg430=)
| |
| 20 | g.49905892C>T | CA511018327 | SPATA2 | c.1290G>A (p.Arg430=)
| gnomAD v4 |
| 20 | g.49905893C>A | CA408946551 | SPATA2 | c.1289G>T (p.Arg430Leu)
| |
| 20 | g.49905893C= | CA2368281339 | SPATA2 | c.1289G= (p.Arg430=)
| |
| 20 | g.49905893C>G | CA408946552 | SPATA2 | c.1289G>C (p.Arg430Pro)
| gnomAD v4 |
| 20 | g.49905893C>T | CA9904860 | SPATA2 | c.1289G>A (p.Arg430Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905894G>A | CA9904861 | SPATA2 | c.1288C>T (p.Arg430Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905894G>C | CA408946553 | SPATA2 | c.1288C>G (p.Arg430Gly)
| |
| 20 | g.49905894G= | CA2368281340 | SPATA2 | c.1288C= (p.Arg430=)
| |
| 20 | g.49905894G>T | CA9904862 | SPATA2 | c.1288C>A (p.Arg430=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905895C>A | CA511018330 | SPATA2 | c.1287G>T (p.Leu429=)
| |
| 20 | g.49905895C= | CA2368281341 | SPATA2 | c.1287G= (p.Leu429=)
| |
| 20 | g.49905895C>G | CA315121932 | SPATA2 | c.1287G>C (p.Leu429=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905895C>T | CA511018329 | SPATA2 | c.1287G>A (p.Leu429=)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905896A= | CA2368281342 | SPATA2 | c.1286T= (p.Leu429=)
| |
| 20 | g.49905896A>C | CA408946555 | SPATA2 | c.1286T>G (p.Leu429Arg)
| |
| 20 | g.49905896A>G | CA315121936 | SPATA2 | c.1286T>C (p.Leu429Pro)
| dbSNP gnomAD v4 |
| 20 | g.49905896A>T | CA408946554 | SPATA2 | c.1286T>A (p.Leu429Gln)
| |
| 20 | g.49905897G>A | CA511018332 | SPATA2 | c.1285C>T (p.Leu429=)
| |
| 20 | g.49905897G>C | CA408946556 | SPATA2 | c.1285C>G (p.Leu429Val)
| |
| 20 | g.49905897G>T | CA408946559 | SPATA2 | c.1285C>A (p.Leu429Met)
| |
| 20 | g.49905898A= | CA2368281343 | SPATA2 | c.1284T= (p.Ser428=)
| |
| 20 | g.49905898A>C | CA511018333 | SPATA2 | c.1284T>G (p.Ser428=)
| |
| 20 | g.49905898A>G | CA511018334 | SPATA2 | c.1284T>C (p.Ser428=)
| |
| 20 | g.49905898A>T | CA511018335 | SPATA2 | c.1284T>A (p.Ser428=)
| dbSNP |
| 20 | g.49905899G>A | CA408946562 | SPATA2 | c.1283C>T (p.Ser428Phe)
| COSMIC |
| 20 | g.49905899G>C | CA408946565 | SPATA2 | c.1283C>G (p.Ser428Cys)
| |
| 20 | g.49905899G>T | CA408946567 | SPATA2 | c.1283C>A (p.Ser428Tyr)
| |
| 20 | g.49905900A>C | CA408946577 | SPATA2 | c.1282T>G (p.Ser428Ala)
| |
| 20 | g.49905900A>G | CA408946573 | SPATA2 | c.1282T>C (p.Ser428Pro)
| |
| 20 | g.49905900A>T | CA408946574 | SPATA2 | c.1282T>A (p.Ser428Thr)
| |
| 20 | g.49905901T>A | CA511018341 | SPATA2 | c.1281A>T (p.Ala427=)
| |
| 20 | g.49905901T>C | CA511018340 | SPATA2 | c.1281A>G (p.Ala427=)
| |
| 20 | g.49905901T>G | CA511018339 | SPATA2 | c.1281A>C (p.Ala427=)
| |
| 20 | g.49905902G>A | CA408946580 | SPATA2 | c.1280C>T (p.Ala427Val)
| dbSNP gnomAD v2 |
| 20 | g.49905902G>C | CA408946581 | SPATA2 | c.1280C>G (p.Ala427Gly)
| |
| 20 | g.49905902G= | CA2368281344 | SPATA2 | c.1280C= (p.Ala427=)
| |
| 20 | g.49905902G>T | CA408946583 | SPATA2 | c.1280C>A (p.Ala427Glu)
| |
| 20 | g.49905903C>A | CA408946589 | SPATA2 | c.1279G>T (p.Ala427Ser)
| gnomAD v4 |
| 20 | g.49905903C= | CA2368281345 | SPATA2 | c.1279G= (p.Ala427=)
| |
| 20 | g.49905903C>G | CA408946590 | SPATA2 | c.1279G>C (p.Ala427Pro)
| |
| 20 | g.49905903C>T | CA408946591 | SPATA2 | c.1279G>A (p.Ala427Thr)
| dbSNP |
| 20 | g.49905906del | CA2653279987 | SPATA2 | c.1279del (p.Ala427HisfsTer?)
| gnomAD v4 |
| 20 | g.49905903_49905908del | CA2653279986 | SPATA2 | c.1274_1279del (p.His425_Ala427delinsPro)
| gnomAD v4 |
| 20 | g.49905904C>A | CA511018345 | SPATA2 | c.1278G>T (p.Gly426=)
| |
| 20 | g.49905904C>G | CA511018346 | SPATA2 | c.1278G>C (p.Gly426=)
| |
| 20 | g.49905904C>T | CA511018347 | SPATA2 | c.1278G>A (p.Gly426=)
| |
| 20 | g.49905905C>A | CA408946595 | SPATA2 | c.1277G>T (p.Gly426Val)
| gnomAD v4 |
| 20 | g.49905905C>G | CA408946596 | SPATA2 | c.1277G>C (p.Gly426Ala)
| |
| 20 | g.49905905C>T | CA408946593 | SPATA2 | c.1277G>A (p.Gly426Glu)
| gnomAD v4 |
| 20 | g.49905906C>A | CA408946598 | SPATA2 | c.1276G>T (p.Gly426Trp)
| |
| 20 | g.49905906C= | CA2368281346 | SPATA2 | c.1276G= (p.Gly426=)
| |
| 20 | g.49905906C>G | CA408946600 | SPATA2 | c.1276G>C (p.Gly426Arg)
| |
| 20 | g.49905906C>T | CA9904863 | SPATA2 | c.1276G>A (p.Gly426Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905907G>A | CA9904864 | SPATA2 | c.1275C>T (p.His425=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905907G>C | CA408946603 | SPATA2 | c.1275C>G (p.His425Gln)
| |
| 20 | g.49905907G= | CA2368281347 | SPATA2 | c.1275C= (p.His425=)
| |
| 20 | g.49905907G>T | CA408946605 | SPATA2 | c.1275C>A (p.His425Gln)
| |
| 20 | g.49905908T>A | CA408946607 | SPATA2 | c.1274A>T (p.His425Leu)
| dbSNP gnomAD v4 |
| 20 | g.49905908T>C | CA408946610 | SPATA2 | c.1274A>G (p.His425Arg)
| dbSNP gnomAD v4 |
| 20 | g.49905908T>G | CA408946611 | SPATA2 | c.1274A>C (p.His425Pro)
| |
| 20 | g.49905908T= | CA2368281348 | SPATA2 | c.1274A= (p.His425=)
| |
| 20 | g.49905909G>A | CA408946613 | SPATA2 | c.1273C>T (p.His425Tyr)
| dbSNP gnomAD v2 |
| 20 | g.49905909G>C | CA408946615 | SPATA2 | c.1273C>G (p.His425Asp)
| |
| 20 | g.49905909G= | CA2368281349 | SPATA2 | c.1273C= (p.His425=)
| |
| 20 | g.49905909G>T | CA408946617 | SPATA2 | c.1273C>A (p.His425Asn)
| |
| 20 | g.49905911del | CA2653279994 | SPATA2 | c.1273del (p.His425ThrfsTer?)
| gnomAD v4 |
| 20 | g.49905910G>A | CA511018350 | SPATA2 | c.1272C>T (p.Ala424=)
| dbSNP gnomAD v2 |
| 20 | g.49905910G>C | CA511018351 | SPATA2 | c.1272C>G (p.Ala424=)
| |
| 20 | g.49905910G= | CA2368281350 | SPATA2 | c.1272C= (p.Ala424=)
| |
| 20 | g.49905910G>T | CA511018352 | SPATA2 | c.1272C>A (p.Ala424=)
| |
| 20 | g.49905911G>A | CA408946621 | SPATA2 | c.1271C>T (p.Ala424Val)
| |
| 20 | g.49905911G>C | CA408946623 | SPATA2 | c.1271C>G (p.Ala424Gly)
| |
| 20 | g.49905911G= | CA2368281351 | SPATA2 | c.1271C= (p.Ala424=)
| |
| 20 | g.49905911G>T | CA9904865 | SPATA2 | c.1271C>A (p.Ala424Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49905912C>A | CA408946629 | SPATA2 | c.1270G>T (p.Ala424Ser)
| |
| 20 | g.49905912C= | CA2368281352 | SPATA2 | c.1270G= (p.Ala424=)
| |
| 20 | g.49905912C>G | CA408946626 | SPATA2 | c.1270G>C (p.Ala424Pro)
| dbSNP gnomAD v4 |
| 20 | g.49905912C>T | CA9904866 | SPATA2 | c.1270G>A (p.Ala424Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49905913C>A | CA315121960 | SPATA2 | c.1269G>T (p.Leu423=)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905913C= | CA2368281353 | SPATA2 | c.1269G= (p.Leu423=)
| |
| 20 | g.49905913C>G | CA511018355 | SPATA2 | c.1269G>C (p.Leu423=)
| |
| 20 | g.49905913C>T | CA511018356 | SPATA2 | c.1269G>A (p.Leu423=)
| |
| 20 | g.49905923_49905988dup | CA2653280001 | SPATA2 | c.1204_1269dup (p.Leu423_Ala424insLeuThrCysProProAlaSerLysProSerAlaPheProSerLysAlaSerThrHisAspSerLeu)
| gnomAD v4 |
| 20 | g.49905914A>C | CA408946631 | SPATA2 | c.1268T>G (p.Leu423Arg)
| gnomAD v4 |
| 20 | g.49905914A>G | CA408946634 | SPATA2 | c.1268T>C (p.Leu423Pro)
| |
| 20 | g.49905914A>T | CA408946637 | SPATA2 | c.1268T>A (p.Leu423Gln)
| |
| 20 | g.49905915G>A | CA511018360 | SPATA2 | c.1267C>T (p.Leu423=)
| gnomAD v4 |
| 20 | g.49905915G>C | CA408946643 | SPATA2 | c.1267C>G (p.Leu423Val)
| |
| 20 | g.49905915G= | CA2368281354 | SPATA2 | c.1267C= (p.Leu423=)
| |
| 20 | g.49905915G>T | CA315121963 | SPATA2 | c.1267C>A (p.Leu423Met)
| dbSNP |
| 20 | g.49905916G>A | CA9904867 | SPATA2 | c.1266C>T (p.Ser422=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905916G>C | CA408946652 | SPATA2 | c.1266C>G (p.Ser422Arg)
| |
| 20 | g.49905916G= | CA2368281355 | SPATA2 | c.1266C= (p.Ser422=)
| |
| 20 | g.49905916G>T | CA408946655 | SPATA2 | c.1266C>A (p.Ser422Arg)
| |
| 20 | g.49905917C>A | CA408946659 | SPATA2 | c.1265G>T (p.Ser422Ile)
| gnomAD v4 |
| 20 | g.49905917C>G | CA408946662 | SPATA2 | c.1265G>C (p.Ser422Thr)
| |
| 20 | g.49905917C>T | CA408946665 | SPATA2 | c.1265G>A (p.Ser422Asn)
| gnomAD v4 |
| 20 | g.49905918T>A | CA408946667 | SPATA2 | c.1264A>T (p.Ser422Cys)
| |
| 20 | g.49905918T>C | CA408946668 | SPATA2 | c.1264A>G (p.Ser422Gly)
| gnomAD v4 |
| 20 | g.49905918T>G | CA408946666 | SPATA2 | c.1264A>C (p.Ser422Arg)
| |
| 20 | g.49905919G>A | CA511018362 | SPATA2 | c.1263C>T (p.Asp421=)
| |
| 20 | g.49905919G>C | CA408946670 | SPATA2 | c.1263C>G (p.Asp421Glu)
| gnomAD v4 |
| 20 | g.49905919G>T | CA408946671 | SPATA2 | c.1263C>A (p.Asp421Glu)
| |
| 20 | g.49905920T>A | CA408946674 | SPATA2 | c.1262A>T (p.Asp421Val)
| |
| 20 | g.49905920T>C | CA408946677 | SPATA2 | c.1262A>G (p.Asp421Gly)
| |
| 20 | g.49905920T>G | CA408946680 | SPATA2 | c.1262A>C (p.Asp421Ala)
| |
| 20 | g.49905921C>A | CA408946681 | SPATA2 | c.1261G>T (p.Asp421Tyr)
| |
| 20 | g.49905921C>G | CA408946682 | SPATA2 | c.1261G>C (p.Asp421His)
| |
| 20 | g.49905921C>T | CA408946683 | SPATA2 | c.1261G>A (p.Asp421Asn)
| |
| 20 | g.49905922A>C | CA408946686 | SPATA2 | c.1260T>G (p.His420Gln)
| |
| 20 | g.49905922A>G | CA511018363 | SPATA2 | c.1260T>C (p.His420=)
| |
| 20 | g.49905922A>T | CA408946688 | SPATA2 | c.1260T>A (p.His420Gln)
| |
| 20 | g.49905923T>A | CA408946691 | SPATA2 | c.1259A>T (p.His420Leu)
| |
| 20 | g.49905923T>C | CA408946694 | SPATA2 | c.1259A>G (p.His420Arg)
| gnomAD v4 |
| 20 | g.49905923T>G | CA408946696 | SPATA2 | c.1259A>C (p.His420Pro)
| |
| 20 | g.49905924G>A | CA315121968 | SPATA2 | c.1258C>T (p.His420Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905924G>C | CA408946702 | SPATA2 | c.1258C>G (p.His420Asp)
| |
| 20 | g.49905924G= | CA2368281356 | SPATA2 | c.1258C= (p.His420=)
| |
| 20 | g.49905924G>T | CA408946698 | SPATA2 | c.1258C>A (p.His420Asn)
| |
| 20 | g.49905925A>C | CA511018364 | SPATA2 | c.1257T>G (p.Thr419=)
| |
| 20 | g.49905925A>G | CA511018365 | SPATA2 | c.1257T>C (p.Thr419=)
| |
| 20 | g.49905925A>T | CA511018366 | SPATA2 | c.1257T>A (p.Thr419=)
| |
| 20 | g.49905926G>A | CA408946705 | SPATA2 | c.1256C>T (p.Thr419Ile)
| |
| 20 | g.49905926G>C | CA408946708 | SPATA2 | c.1256C>G (p.Thr419Ser)
| |
| 20 | g.49905926G>T | CA408946711 | SPATA2 | c.1256C>A (p.Thr419Asn)
| |
