| 20 | g.49905650G>A | CA408945112 | SPATA2 | c.1532C>T (p.Ser511Phe)
| |
| 20 | g.49905650G>C | CA408945113 | SPATA2 | c.1532C>G (p.Ser511Cys)
| |
| 20 | g.49905650G>T | CA408945114 | SPATA2 | c.1532C>A (p.Ser511Tyr)
| gnomAD v4 |
| 20 | g.49905651A>C | CA408945115 | SPATA2 | c.1531T>G (p.Ser511Ala)
| |
| 20 | g.49905651A>G | CA408945119 | SPATA2 | c.1531T>C (p.Ser511Pro)
| |
| 20 | g.49905651A>T | CA408945117 | SPATA2 | c.1531T>A (p.Ser511Thr)
| gnomAD v4 |
| 20 | g.49905652C>A | CA408945121 | SPATA2 | c.1530G>T (p.Lys510Asn)
| |
| 20 | g.49905652C= | CA2368281238 | SPATA2 | c.1530G= (p.Lys510=)
| |
| 20 | g.49905652C>G | CA408945124 | SPATA2 | c.1530G>C (p.Lys510Asn)
| |
| 20 | g.49905652C>T | CA510851235 | SPATA2 | c.1530G>A (p.Lys510=)
| dbSNP gnomAD v4 |
| 20 | g.49905653T>A | CA408945127 | SPATA2 | c.1529A>T (p.Lys510Met)
| |
| 20 | g.49905653T>C | CA408945129 | SPATA2 | c.1529A>G (p.Lys510Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49905653T>G | CA408945131 | SPATA2 | c.1529A>C (p.Lys510Thr)
| |
| 20 | g.49905653T= | CA2368281239 | SPATA2 | c.1529A= (p.Lys510=)
| |
| 20 | g.49905654T>A | CA408945134 | SPATA2 | c.1528A>T (p.Lys510Ter)
| |
| 20 | g.49905654T>C | CA408945136 | SPATA2 | c.1528A>G (p.Lys510Glu)
| |
| 20 | g.49905654T>G | CA408945139 | SPATA2 | c.1528A>C (p.Lys510Gln)
| |
| 20 | g.49905655G>A | CA510851236 | SPATA2 | c.1527C>T (p.Tyr509=)
| |
| 20 | g.49905655G>C | CA408945140 | SPATA2 | c.1527C>G (p.Tyr509Ter)
| |
| 20 | g.49905655G>T | CA408945142 | SPATA2 | c.1527C>A (p.Tyr509Ter)
| |
| 20 | g.49905656T>A | CA408945145 | SPATA2 | c.1526A>T (p.Tyr509Phe)
| |
| 20 | g.49905656T>C | CA315121742 | SPATA2 | c.1526A>G (p.Tyr509Cys)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49905656T>G | CA408945149 | SPATA2 | c.1526A>C (p.Tyr509Ser)
| |
| 20 | g.49905656T= | CA2368281240 | SPATA2 | c.1526A= (p.Tyr509=)
| |
| 20 | g.49905657A>C | CA408945151 | SPATA2 | c.1525T>G (p.Tyr509Asp)
| |
| 20 | g.49905657A>G | CA408945157 | SPATA2 | c.1525T>C (p.Tyr509His)
| gnomAD v4 |
| 20 | g.49905657A>T | CA408945154 | SPATA2 | c.1525T>A (p.Tyr509Asn)
| |
| 20 | g.49905658G>A | CA510851240 | SPATA2 | c.1524C>T (p.Asn508=)
| |
| 20 | g.49905658G>C | CA408945160 | SPATA2 | c.1524C>G (p.Asn508Lys)
| |
| 20 | g.49905658G>T | CA408945162 | SPATA2 | c.1524C>A (p.Asn508Lys)
| |
| 20 | g.49905659T>A | CA408945164 | SPATA2 | c.1523A>T (p.Asn508Ile)
| |
| 20 | g.49905659T>C | CA408945166 | SPATA2 | c.1523A>G (p.Asn508Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49905659T>G | CA408945167 | SPATA2 | c.1523A>C (p.Asn508Thr)
| |
| 20 | g.49905659T= | CA2368281241 | SPATA2 | c.1523A= (p.Asn508=)
| |
| 20 | g.49905660T>A | CA408945169 | SPATA2 | c.1522A>T (p.Asn508Tyr)
| |
| 20 | g.49905660T>C | CA408945170 | SPATA2 | c.1522A>G (p.Asn508Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905660T>G | CA408945173 | SPATA2 | c.1522A>C (p.Asn508His)
| |
| 20 | g.49905660T= | CA2368281242 | SPATA2 | c.1522A= (p.Asn508=)
| |
| 20 | g.49905661C>A | CA510851244 | SPATA2 | c.1521G>T (p.Leu507=)
| |
| 20 | g.49905661C>G | CA510851246 | SPATA2 | c.1521G>C (p.Leu507=)
| |
| 20 | g.49905661C>T | CA510851247 | SPATA2 | c.1521G>A (p.Leu507=)
| gnomAD v4 |
| 20 | g.49905662A= | CA2368281243 | SPATA2 | c.1520T= (p.Leu507=)
| |
| 20 | g.49905662A>C | CA408945176 | SPATA2 | c.1520T>G (p.Leu507Arg)
| |
| 20 | g.49905662A>G | CA315121743 | SPATA2 | c.1520T>C (p.Leu507Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905662A>T | CA408945179 | SPATA2 | c.1520T>A (p.Leu507Gln)
| |
| 20 | g.49905663G>A | CA510851248 | SPATA2 | c.1519C>T (p.Leu507=)
| gnomAD v4 |
| 20 | g.49905663G>C | CA408945182 | SPATA2 | c.1519C>G (p.Leu507Val)
| |
| 20 | g.49905663G>T | CA408945184 | SPATA2 | c.1519C>A (p.Leu507Met)
| |
| 20 | g.49905664C>A | CA408945187 | SPATA2 | c.1518G>T (p.Gln506His)
| |
| 20 | g.49905664C>G | CA408945188 | SPATA2 | c.1518G>C (p.Gln506His)
| gnomAD v4 |
| 20 | g.49905664C>T | CA510851249 | SPATA2 | c.1518G>A (p.Gln506=)
| gnomAD v4 |
| 20 | g.49905665T>A | CA408945191 | SPATA2 | c.1517A>T (p.Gln506Leu)
| |
| 20 | g.49905665T>C | CA408945194 | SPATA2 | c.1517A>G (p.Gln506Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49905665T>G | CA408945193 | SPATA2 | c.1517A>C (p.Gln506Pro)
| |
| 20 | g.49905665T= | CA2368281244 | SPATA2 | c.1517A= (p.Gln506=)
| |
| 20 | g.49905666G>A | CA408945196 | SPATA2 | c.1516C>T (p.Gln506Ter)
| |
| 20 | g.49905666G>C | CA408945200 | SPATA2 | c.1516C>G (p.Gln506Glu)
| |
| 20 | g.49905666G= | CA2368281245 | SPATA2 | c.1516C= (p.Gln506=)
| |
| 20 | g.49905666G>T | CA408945199 | SPATA2 | c.1516C>A (p.Gln506Lys)
| dbSNP |
| 20 | g.49905667G>A | CA510851250 | SPATA2 | c.1515C>T (p.Asn505=)
| |
| 20 | g.49905667G>C | CA408945203 | SPATA2 | c.1515C>G (p.Asn505Lys)
| gnomAD v4 |
| 20 | g.49905667G>T | CA408945205 | SPATA2 | c.1515C>A (p.Asn505Lys)
| |
| 20 | g.49905668T>A | CA408945208 | SPATA2 | c.1514A>T (p.Asn505Ile)
| |
| 20 | g.49905668T>C | CA408945210 | SPATA2 | c.1514A>G (p.Asn505Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905668T>G | CA408945212 | SPATA2 | c.1514A>C (p.Asn505Thr)
| |
| 20 | g.49905668T= | CA2368281246 | SPATA2 | c.1514A= (p.Asn505=)
| |
| 20 | g.49905669T>A | CA408945215 | SPATA2 | c.1513A>T (p.Asn505Tyr)
| |
| 20 | g.49905669T>C | CA408945217 | SPATA2 | c.1513A>G (p.Asn505Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905669T>G | CA408945219 | SPATA2 | c.1513A>C (p.Asn505His)
| |
| 20 | g.49905669T= | CA2368281247 | SPATA2 | c.1513A= (p.Asn505=)
| |
| 20 | g.49905670G>A | CA510851251 | SPATA2 | c.1512C>T (p.Asn504=)
| |
| 20 | g.49905670G>C | CA9904813 | SPATA2 | c.1512C>G (p.Asn504Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905670G= | CA2368281248 | SPATA2 | c.1512C= (p.Asn504=)
| |
| 20 | g.49905670G>T | CA9904812 | SPATA2 | c.1512C>A (p.Asn504Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905671T>A | CA408945226 | SPATA2 | c.1511A>T (p.Asn504Ile)
| |
| 20 | g.49905671T>C | CA408945228 | SPATA2 | c.1511A>G (p.Asn504Ser)
| gnomAD v4 |
| 20 | g.49905671T>G | CA408945229 | SPATA2 | c.1511A>C (p.Asn504Thr)
| |
| 20 | g.49905672T>A | CA408945231 | SPATA2 | c.1510A>T (p.Asn504Tyr)
| |
| 20 | g.49905672T>C | CA408945235 | SPATA2 | c.1510A>G (p.Asn504Asp)
| |
| 20 | g.49905672T>G | CA408945233 | SPATA2 | c.1510A>C (p.Asn504His)
| COSMIC |
| 20 | g.49905673G>A | CA510851253 | SPATA2 | c.1509C>T (p.Pro503=)
| |
| 20 | g.49905673G>C | CA510851254 | SPATA2 | c.1509C>G (p.Pro503=)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905673G= | CA2368281249 | SPATA2 | c.1509C= (p.Pro503=)
| |
| 20 | g.49905673G>T | CA510851255 | SPATA2 | c.1509C>A (p.Pro503=)
| |
| 20 | g.49905674G>A | CA9904814 | SPATA2 | c.1508C>T (p.Pro503Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905674G>C | CA408945238 | SPATA2 | c.1508C>G (p.Pro503Arg)
| |
| 20 | g.49905674G= | CA2368281250 | SPATA2 | c.1508C= (p.Pro503=)
| |
| 20 | g.49905674G>T | CA408945240 | SPATA2 | c.1508C>A (p.Pro503His)
| |
| 20 | g.49905675G>A | CA408945244 | SPATA2 | c.1507C>T (p.Pro503Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49905675G>C | CA408945246 | SPATA2 | c.1507C>G (p.Pro503Ala)
| |
| 20 | g.49905675G= | CA2368281251 | SPATA2 | c.1507C= (p.Pro503=)
| |
| 20 | g.49905675G>T | CA408945248 | SPATA2 | c.1507C>A (p.Pro503Thr)
| |
| 20 | g.49905675_49905680del | CA2653279966 | SPATA2 | c.1502_1507del (p.Phe501_Pro503delinsSer)
| gnomAD v4 |
| 20 | g.49905676C>A | CA408945251 | SPATA2 | c.1506G>T (p.Met502Ile)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49905676C= | CA2368281252 | SPATA2 | c.1506G= (p.Met502=)
| |
| 20 | g.49905676C>G | CA408945253 | SPATA2 | c.1506G>C (p.Met502Ile)
| |
| 20 | g.49905676C>T | CA9904815 | SPATA2 | c.1506G>A (p.Met502Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905677A>C | CA408945262 | SPATA2 | c.1505T>G (p.Met502Arg)
| |
| 20 | g.49905677A>G | CA408945260 | SPATA2 | c.1505T>C (p.Met502Thr)
| |
| 20 | g.49905677A>T | CA408945258 | SPATA2 | c.1505T>A (p.Met502Lys)
| gnomAD v4 |
| 20 | g.49905678T>A | CA408945265 | SPATA2 | c.1504A>T (p.Met502Leu)
| gnomAD v4 |
| 20 | g.49905678T>C | CA408945266 | SPATA2 | c.1504A>G (p.Met502Val)
| gnomAD v4 |
| 20 | g.49905678T>G | CA408945268 | SPATA2 | c.1504A>C (p.Met502Leu)
| gnomAD v4 |
| 20 | g.49905679G>A | CA510851260 | SPATA2 | c.1503C>T (p.Phe501=)
| |
| 20 | g.49905679G>C | CA408945270 | SPATA2 | c.1503C>G (p.Phe501Leu)
| |
| 20 | g.49905679G>T | CA408945272 | SPATA2 | c.1503C>A (p.Phe501Leu)
| |
| 20 | g.49905680A>C | CA408945275 | SPATA2 | c.1502T>G (p.Phe501Cys)
| |
| 20 | g.49905680A>G | CA408945277 | SPATA2 | c.1502T>C (p.Phe501Ser)
| |
| 20 | g.49905680A>T | CA408945279 | SPATA2 | c.1502T>A (p.Phe501Tyr)
| |
| 20 | g.49905681A>C | CA408945283 | SPATA2 | c.1501T>G (p.Phe501Val)
| COSMIC |
| 20 | g.49905681A>G | CA408945285 | SPATA2 | c.1501T>C (p.Phe501Leu)
| gnomAD v4 |
| 20 | g.49905681A>T | CA408945287 | SPATA2 | c.1501T>A (p.Phe501Ile)
| |
| 20 | g.49905682C>A | CA408945290 | SPATA2 | c.1500G>T (p.Lys500Asn)
| |
| 20 | g.49905682C>G | CA408945291 | SPATA2 | c.1500G>C (p.Lys500Asn)
| |
| 20 | g.49905682C>T | CA510851262 | SPATA2 | c.1500G>A (p.Lys500=)
| gnomAD v4 |
| 20 | g.49905682_49905683delinsCT | CA2368281253 | SPATA2 | c.1499_1500delinsAG (p.Lys500=)
| |
| 20 | g.49905683T>A | CA408945293 | SPATA2 | c.1499A>T (p.Lys500Met)
| |
| 20 | g.49905683T>C | CA408945298 | SPATA2 | c.1499A>G (p.Lys500Arg)
| |
| 20 | g.49905683T>G | CA408945295 | SPATA2 | c.1499A>C (p.Lys500Thr)
| |
| 20 | g.49905684del | CA745212528 | SPATA2 | c.1499del (p.Lys500SerfsTer8)
| dbSNP |
| 20 | g.49905684T>A | CA408945301 | SPATA2 | c.1498A>T (p.Lys500Ter)
| |
| 20 | g.49905684T>C | CA408945302 | SPATA2 | c.1498A>G (p.Lys500Glu)
| dbSNP gnomAD v4 |
| 20 | g.49905684T>G | CA408945305 | SPATA2 | c.1498A>C (p.Lys500Gln)
| |
| 20 | g.49905684T= | CA2368281254 | SPATA2 | c.1498A= (p.Lys500=)
| |
| 20 | g.49905685G>A | CA510851266 | SPATA2 | c.1497C>T (p.His499=)
| |
| 20 | g.49905685G>C | CA408945307 | SPATA2 | c.1497C>G (p.His499Gln)
| |
| 20 | g.49905685G>T | CA408945309 | SPATA2 | c.1497C>A (p.His499Gln)
| |
| 20 | g.49905686T>A | CA408945312 | SPATA2 | c.1496A>T (p.His499Leu)
| |
| 20 | g.49905686T>C | CA408945314 | SPATA2 | c.1496A>G (p.His499Arg)
| |
| 20 | g.49905686T>G | CA408945316 | SPATA2 | c.1496A>C (p.His499Pro)
| |
| 20 | g.49905687G>A | CA408945318 | SPATA2 | c.1495C>T (p.His499Tyr)
| |
| 20 | g.49905687G>C | CA408945320 | SPATA2 | c.1495C>G (p.His499Asp)
| |
| 20 | g.49905687G>T | CA408945322 | SPATA2 | c.1495C>A (p.His499Asn)
| |
| 20 | g.49905688C>A | CA510851267 | SPATA2 | c.1494G>T (p.Leu498=)
| |
| 20 | g.49905688C>G | CA510851268 | SPATA2 | c.1494G>C (p.Leu498=)
| |
| 20 | g.49905688C>T | CA510851269 | SPATA2 | c.1494G>A (p.Leu498=)
| |
| 20 | g.49905689A= | CA2368281255 | SPATA2 | c.1493T= (p.Leu498=)
| |
| 20 | g.49905689A>C | CA408945329 | SPATA2 | c.1493T>G (p.Leu498Arg)
| COSMIC |
| 20 | g.49905689A>G | CA315121749 | SPATA2 | c.1493T>C (p.Leu498Pro)
| dbSNP gnomAD v4 |
| 20 | g.49905689A>T | CA408945326 | SPATA2 | c.1493T>A (p.Leu498Gln)
| |
| 20 | g.49905690G>A | CA510851272 | SPATA2 | c.1492C>T (p.Leu498=)
| |
| 20 | g.49905690G>C | CA9904816 | SPATA2 | c.1492C>G (p.Leu498Val)
| dbSNP ExAC gnomAD v2 |
| 20 | g.49905690G= | CA2368281256 | SPATA2 | c.1492C= (p.Leu498=)
| |
| 20 | g.49905690G>T | CA408945332 | SPATA2 | c.1492C>A (p.Leu498Met)
| |
| 20 | g.49905691C>A | CA408945336 | SPATA2 | c.1491G>T (p.Glu497Asp)
| |
| 20 | g.49905691C>G | CA408945338 | SPATA2 | c.1491G>C (p.Glu497Asp)
| |
| 20 | g.49905691C>T | CA510851273 | SPATA2 | c.1491G>A (p.Glu497=)
| gnomAD v4 |
| 20 | g.49905692T>A | CA408945341 | SPATA2 | c.1490A>T (p.Glu497Val)
| |
| 20 | g.49905692T>C | CA408945342 | SPATA2 | c.1490A>G (p.Glu497Gly)
| gnomAD v4 |
| 20 | g.49905692T>G | CA408945345 | SPATA2 | c.1490A>C (p.Glu497Ala)
| |
| 20 | g.49905693C>A | CA408945352 | SPATA2 | c.1489G>T (p.Glu497Ter)
| |
| 20 | g.49905693C>G | CA408945347 | SPATA2 | c.1489G>C (p.Glu497Gln)
| |
| 20 | g.49905693C>T | CA408945349 | SPATA2 | c.1489G>A (p.Glu497Lys)
| gnomAD v4 |
| 20 | g.49905694A>C | CA408945354 | SPATA2 | c.1488T>G (p.Ser496Arg)
| gnomAD v4 |
| 20 | g.49905694A>G | CA510851277 | SPATA2 | c.1488T>C (p.Ser496=)
| |
| 20 | g.49905694A>T | CA408945357 | SPATA2 | c.1488T>A (p.Ser496Arg)
| |
| 20 | g.49905695C>A | CA408945360 | SPATA2 | c.1487G>T (p.Ser496Ile)
| |
| 20 | g.49905695C>G | CA408945361 | SPATA2 | c.1487G>C (p.Ser496Thr)
| |
| 20 | g.49905695C>T | CA408945362 | SPATA2 | c.1487G>A (p.Ser496Asn)
| |
| 20 | g.49905696T>A | CA408945370 | SPATA2 | c.1486A>T (p.Ser496Cys)
| |
| 20 | g.49905696T>C | CA408945365 | SPATA2 | c.1486A>G (p.Ser496Gly)
| |
| 20 | g.49905696T>G | CA408945367 | SPATA2 | c.1486A>C (p.Ser496Arg)
| |
| 20 | g.49905697C>A | CA408945371 | SPATA2 | c.1485G>T (p.Lys495Asn)
| gnomAD v4 |
| 20 | g.49905697C>G | CA408945373 | SPATA2 | c.1485G>C (p.Lys495Asn)
| |
| 20 | g.49905697C>T | CA511018081 | SPATA2 | c.1485G>A (p.Lys495=)
| |
| 20 | g.49905698T>A | CA408945375 | SPATA2 | c.1484A>T (p.Lys495Met)
| |
| 20 | g.49905698T>C | CA408945377 | SPATA2 | c.1484A>G (p.Lys495Arg)
| dbSNP gnomAD v4 |
| 20 | g.49905698T>G | CA408945379 | SPATA2 | c.1484A>C (p.Lys495Thr)
| |
| 20 | g.49905698T= | CA2368281257 | SPATA2 | c.1484A= (p.Lys495=)
| |
| 20 | g.49905699T>A | CA408945382 | SPATA2 | c.1483A>T (p.Lys495Ter)
| |
| 20 | g.49905699T>C | CA408945383 | SPATA2 | c.1483A>G (p.Lys495Glu)
| gnomAD v4 |
| 20 | g.49905699T>G | CA408945385 | SPATA2 | c.1483A>C (p.Lys495Gln)
| |
| 20 | g.49905700T>A | CA408945387 | SPATA2 | c.1482A>T (p.Lys494Asn)
| |
| 20 | g.49905700T>C | CA511018083 | SPATA2 | c.1482A>G (p.Lys494=)
| |
| 20 | g.49905700T>G | CA408945388 | SPATA2 | c.1482A>C (p.Lys494Asn)
| |
| 20 | g.49905701T>A | CA408945389 | SPATA2 | c.1481A>T (p.Lys494Ile)
| |
| 20 | g.49905701T>C | CA408945390 | SPATA2 | c.1481A>G (p.Lys494Arg)
| |
| 20 | g.49905701T>G | CA408945393 | SPATA2 | c.1481A>C (p.Lys494Thr)
| |
| 20 | g.49905702T>A | CA408945395 | SPATA2 | c.1480A>T (p.Lys494Ter)
| |
| 20 | g.49905702T>C | CA408945399 | SPATA2 | c.1480A>G (p.Lys494Glu)
| |
| 20 | g.49905702T>G | CA408945397 | SPATA2 | c.1480A>C (p.Lys494Gln)
| |
| 20 | g.49905703G>A | CA511018086 | SPATA2 | c.1479C>T (p.Tyr493=)
| |
| 20 | g.49905703G>C | CA408945401 | SPATA2 | c.1479C>G (p.Tyr493Ter)
| |
| 20 | g.49905703G>T | CA408945402 | SPATA2 | c.1479C>A (p.Tyr493Ter)
| |
| 20 | g.49905704T>A | CA408945403 | SPATA2 | c.1478A>T (p.Tyr493Phe)
| |
| 20 | g.49905704T>C | CA408945404 | SPATA2 | c.1478A>G (p.Tyr493Cys)
| |
| 20 | g.49905704T>G | CA408945405 | SPATA2 | c.1478A>C (p.Tyr493Ser)
| |
| 20 | g.49905705A= | CA2368281258 | SPATA2 | c.1477T= (p.Tyr493=)
| |
| 20 | g.49905705A>C | CA408945413 | SPATA2 | c.1477T>G (p.Tyr493Asp)
| |
| 20 | g.49905705A>G | CA408945411 | SPATA2 | c.1477T>C (p.Tyr493His)
| |
| 20 | g.49905705A>T | CA408945409 | SPATA2 | c.1477T>A (p.Tyr493Asn)
| dbSNP |
| 20 | g.49905706G>A | CA9904817 | SPATA2 | c.1476C>T (p.Cys492=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905706G>C | CA408945416 | SPATA2 | c.1476C>G (p.Cys492Trp)
| gnomAD v4 |
| 20 | g.49905706G= | CA2368281259 | SPATA2 | c.1476C= (p.Cys492=)
| |
| 20 | g.49905706G>T | CA408945418 | SPATA2 | c.1476C>A (p.Cys492Ter)
| |
| 20 | g.49905707C>A | CA408945421 | SPATA2 | c.1475G>T (p.Cys492Phe)
| gnomAD v4 |
| 20 | g.49905707C= | CA2368281260 | SPATA2 | c.1475G= (p.Cys492=)
| |
| 20 | g.49905707C>G | CA315121759 | SPATA2 | c.1475G>C (p.Cys492Ser)
| dbSNP gnomAD v4 |
| 20 | g.49905707C>T | CA408945424 | SPATA2 | c.1475G>A (p.Cys492Tyr)
| |
| 20 | g.49905708A>C | CA408945427 | SPATA2 | c.1474T>G (p.Cys492Gly)
| |
| 20 | g.49905708A>G | CA408945431 | SPATA2 | c.1474T>C (p.Cys492Arg)
| |
| 20 | g.49905708A>T | CA408945429 | SPATA2 | c.1474T>A (p.Cys492Ser)
| |
| 20 | g.49905709G>A | CA511018089 | SPATA2 | c.1473C>T (p.Pro491=)
| gnomAD v4 |
| 20 | g.49905709G>C | CA511018090 | SPATA2 | c.1473C>G (p.Pro491=)
| |
| 20 | g.49905709G>T | CA511018091 | SPATA2 | c.1473C>A (p.Pro491=)
| |
| 20 | g.49905710G>A | CA315121766 | SPATA2 | c.1472C>T (p.Pro491Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49905710G>C | CA408945434 | SPATA2 | c.1472C>G (p.Pro491Arg)
| |
| 20 | g.49905710G= | CA2368281261 | SPATA2 | c.1472C= (p.Pro491=)
| |
| 20 | g.49905710G>T | CA408945435 | SPATA2 | c.1472C>A (p.Pro491His)
| |
| 20 | g.49905711G>A | CA408945438 | SPATA2 | c.1471C>T (p.Pro491Ser)
| |
| 20 | g.49905711G>C | CA408945439 | SPATA2 | c.1471C>G (p.Pro491Ala)
| ClinVar |
| 20 | g.49905711G>T | CA408945441 | SPATA2 | c.1471C>A (p.Pro491Thr)
| |
| 20 | g.49905712G>A | CA511018095 | SPATA2 | c.1470C>T (p.Asp490=)
| |
| 20 | g.49905712G>C | CA408945444 | SPATA2 | c.1470C>G (p.Asp490Glu)
| |
| 20 | g.49905712G>T | CA408945446 | SPATA2 | c.1470C>A (p.Asp490Glu)
| |
| 20 | g.49905713T>A | CA408945448 | SPATA2 | c.1469A>T (p.Asp490Val)
| |
| 20 | g.49905713T>C | CA408945449 | SPATA2 | c.1469A>G (p.Asp490Gly)
| |
| 20 | g.49905713T>G | CA408945451 | SPATA2 | c.1469A>C (p.Asp490Ala)
| |
| 20 | g.49905714C>A | CA408945454 | SPATA2 | c.1468G>T (p.Asp490Tyr)
| |
| 20 | g.49905714C>G | CA408945455 | SPATA2 | c.1468G>C (p.Asp490His)
| |
| 20 | g.49905714C>T | CA408945453 | SPATA2 | c.1468G>A (p.Asp490Asn)
| COSMIC |
| 20 | g.49905715A>C | CA408945457 | SPATA2 | c.1467T>G (p.Tyr489Ter)
| |
| 20 | g.49905715A>G | CA511018099 | SPATA2 | c.1467T>C (p.Tyr489=)
| |
| 20 | g.49905715A>T | CA408945458 | SPATA2 | c.1467T>A (p.Tyr489Ter)
| |
| 20 | g.49905715_49905716delinsAT | CA2368281262 | SPATA2 | c.1466_1467delinsAT (p.Tyr489=)
| |
| 20 | g.49905716del | CA2368281263 | SPATA2 | c.1466del (p.Tyr489LeufsTer19)
| dbSNP |
| 20 | g.49905716T>A | CA408945459 | SPATA2 | c.1466A>T (p.Tyr489Phe)
| |
| 20 | g.49905716T>C | CA408945460 | SPATA2 | c.1466A>G (p.Tyr489Cys)
| COSMIC |
| 20 | g.49905716T>G | CA408945461 | SPATA2 | c.1466A>C (p.Tyr489Ser)
| |
| 20 | g.49905717A= | CA2368281264 | SPATA2 | c.1465T= (p.Tyr489=)
| |
| 20 | g.49905717A>C | CA408945462 | SPATA2 | c.1465T>G (p.Tyr489Asp)
| |
| 20 | g.49905717A>G | CA408945464 | SPATA2 | c.1465T>C (p.Tyr489His)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49905717A>T | CA408945465 | SPATA2 | c.1465T>A (p.Tyr489Asn)
| |
| 20 | g.49905718A>C | CA408945468 | SPATA2 | c.1464T>G (p.His488Gln)
| |
| 20 | g.49905718A>G | CA511018103 | SPATA2 | c.1464T>C (p.His488=)
| |
| 20 | g.49905718A>T | CA408945470 | SPATA2 | c.1464T>A (p.His488Gln)
| |
| 20 | g.49905719T>A | CA408945472 | SPATA2 | c.1463A>T (p.His488Leu)
| |
| 20 | g.49905719T>C | CA408945476 | SPATA2 | c.1463A>G (p.His488Arg)
| |
| 20 | g.49905719T>G | CA408945478 | SPATA2 | c.1463A>C (p.His488Pro)
| |
| 20 | g.49905720G>A | CA408945479 | SPATA2 | c.1462C>T (p.His488Tyr)
| |
| 20 | g.49905720G>C | CA408945481 | SPATA2 | c.1462C>G (p.His488Asp)
| |
| 20 | g.49905720G>T | CA408945484 | SPATA2 | c.1462C>A (p.His488Asn)
| |
| 20 | g.49905721G>A | CA511018105 | SPATA2 | c.1461C>T (p.Tyr487=)
| dbSNP gnomAD v2 |
| 20 | g.49905721G>C | CA408945486 | SPATA2 | c.1461C>G (p.Tyr487Ter)
| |
| 20 | g.49905721G= | CA2368281265 | SPATA2 | c.1461C= (p.Tyr487=)
| |
| 20 | g.49905721G>T | CA408945487 | SPATA2 | c.1461C>A (p.Tyr487Ter)
| |
| 20 | g.49905722T>A | CA408945490 | SPATA2 | c.1460A>T (p.Tyr487Phe)
| |
| 20 | g.49905722T>C | CA408945492 | SPATA2 | c.1460A>G (p.Tyr487Cys)
| |
| 20 | g.49905722T>G | CA408945494 | SPATA2 | c.1460A>C (p.Tyr487Ser)
| gnomAD v4 |
| 20 | g.49905723A>C | CA408945499 | SPATA2 | c.1459T>G (p.Tyr487Asp)
| |
| 20 | g.49905723A>G | CA408945501 | SPATA2 | c.1459T>C (p.Tyr487His)
| |
| 20 | g.49905723A>T | CA408945504 | SPATA2 | c.1459T>A (p.Tyr487Asn)
| |
| 20 | g.49905723_49905724dup | CA2516852141 | SPATA2 | c.1458_1459dup (p.Tyr487PhefsTer22)
| |
| 20 | g.49905724A>C | CA511018109 | SPATA2 | c.1458T>G (p.Ala486=)
| |
| 20 | g.49905724A>G | CA511018108 | SPATA2 | c.1458T>C (p.Ala486=)
| |
| 20 | g.49905724A>T | CA511018107 | SPATA2 | c.1458T>A (p.Ala486=)
| |
| 20 | g.49905725G>A | CA408945510 | SPATA2 | c.1457C>T (p.Ala486Val)
| |
| 20 | g.49905725G>C | CA408945513 | SPATA2 | c.1457C>G (p.Ala486Gly)
| |
| 20 | g.49905725G>T | CA408945515 | SPATA2 | c.1457C>A (p.Ala486Asp)
| |
| 20 | g.49905726C>A | CA9904819 | SPATA2 | c.1456G>T (p.Ala486Ser)
| dbSNP ExAC gnomAD v4 |
| 20 | g.49905726C= | CA2368281266 | SPATA2 | c.1456G= (p.Ala486=)
| |
| 20 | g.49905726C>G | CA408945519 | SPATA2 | c.1456G>C (p.Ala486Pro)
| |
| 20 | g.49905726C>T | CA9904818 | SPATA2 | c.1456G>A (p.Ala486Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905727G>A | CA9904820 | SPATA2 | c.1455C>T (p.Ser485=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905727G>C | CA9904821 | SPATA2 | c.1455C>G (p.Ser485Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905727G= | CA2368281267 | SPATA2 | c.1455C= (p.Ser485=)
| |
| 20 | g.49905727G>T | CA408945524 | SPATA2 | c.1455C>A (p.Ser485Arg)
| |
| 20 | g.49905728C>A | CA408945529 | SPATA2 | c.1454G>T (p.Ser485Ile)
| |
| 20 | g.49905728C= | CA2368281268 | SPATA2 | c.1454G= (p.Ser485=)
| |
| 20 | g.49905728C>G | CA9904822 | SPATA2 | c.1454G>C (p.Ser485Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905728C>T | CA408945533 | SPATA2 | c.1454G>A (p.Ser485Asn)
| |
| 20 | g.49905729T>A | CA408945536 | SPATA2 | c.1453A>T (p.Ser485Cys)
| |
| 20 | g.49905729T>C | CA408945538 | SPATA2 | c.1453A>G (p.Ser485Gly)
| |
| 20 | g.49905729T>G | CA9904823 | SPATA2 | c.1453A>C (p.Ser485Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49905729T= | CA2368281269 | SPATA2 | c.1453A= (p.Ser485=)
| |
| 20 | g.49905730G>A | CA511018117 | SPATA2 | c.1452C>T (p.Leu484=)
| |
| 20 | g.49905730G>C | CA511018118 | SPATA2 | c.1452C>G (p.Leu484=)
| |
| 20 | g.49905730G>T | CA511018119 | SPATA2 | c.1452C>A (p.Leu484=)
| |
| 20 | g.49905731A>C | CA408945540 | SPATA2 | c.1451T>G (p.Leu484Arg)
| |
| 20 | g.49905731A>G | CA408945542 | SPATA2 | c.1451T>C (p.Leu484Pro)
| gnomAD v4 |
| 20 | g.49905731A>T | CA408945546 | SPATA2 | c.1451T>A (p.Leu484His)
| |
| 20 | g.49905732G>A | CA315121789 | SPATA2 | c.1450C>T (p.Leu484Phe)
| dbSNP gnomAD v4 |
| 20 | g.49905732G>C | CA408945549 | SPATA2 | c.1450C>G (p.Leu484Val)
| |
| 20 | g.49905732G= | CA2368281270 | SPATA2 | c.1450C= (p.Leu484=)
| |
| 20 | g.49905732G>T | CA408945551 | SPATA2 | c.1450C>A (p.Leu484Ile)
| |
| 20 | g.49905733G>A | CA511018123 | SPATA2 | c.1449C>T (p.Cys483=)
| dbSNP |
| 20 | g.49905733G>C | CA408945557 | SPATA2 | c.1449C>G (p.Cys483Trp)
| |
| 20 | g.49905733G= | CA2368281271 | SPATA2 | c.1449C= (p.Cys483=)
| |
| 20 | g.49905733G>T | CA408945555 | SPATA2 | c.1449C>A (p.Cys483Ter)
| |
| 20 | g.49905734C>A | CA408945559 | SPATA2 | c.1448G>T (p.Cys483Phe)
| dbSNP |
| 20 | g.49905734C>G | CA408945563 | SPATA2 | c.1448G>C (p.Cys483Ser)
| |
| 20 | g.49905734C>T | CA408945564 | SPATA2 | c.1448G>A (p.Cys483Tyr)
| gnomAD v4 |
| 20 | g.49905735A>C | CA408945565 | SPATA2 | c.1447T>G (p.Cys483Gly)
| |
| 20 | g.49905735A>G | CA408945566 | SPATA2 | c.1447T>C (p.Cys483Arg)
| gnomAD v4 |
| 20 | g.49905735A>T | CA408945568 | SPATA2 | c.1447T>A (p.Cys483Ser)
| |
| 20 | g.49905736G>A | CA511018124 | SPATA2 | c.1446C>T (p.Ala482=)
| gnomAD v4 |
| 20 | g.49905736G>C | CA511018125 | SPATA2 | c.1446C>G (p.Ala482=)
| |
| 20 | g.49905736G>T | CA511018126 | SPATA2 | c.1446C>A (p.Ala482=)
| |
| 20 | g.49905737G>A | CA408945570 | SPATA2 | c.1445C>T (p.Ala482Val)
| |
| 20 | g.49905737G>C | CA408945576 | SPATA2 | c.1445C>G (p.Ala482Gly)
| |
| 20 | g.49905737G>T | CA408945578 | SPATA2 | c.1445C>A (p.Ala482Asp)
| |
| 20 | g.49905738C>A | CA408945582 | SPATA2 | c.1444G>T (p.Ala482Ser)
| gnomAD v4 |
| 20 | g.49905738C= | CA2368281272 | SPATA2 | c.1444G= (p.Ala482=)
| |
| 20 | g.49905738C>G | CA408945587 | SPATA2 | c.1444G>C (p.Ala482Pro)
| gnomAD v4 |
| 20 | g.49905738C>T | CA408945589 | SPATA2 | c.1444G>A (p.Ala482Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49905739G>A | CA9904824 | SPATA2 | c.1443C>T (p.Asp481=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905739G>C | CA408945602 | SPATA2 | c.1443C>G (p.Asp481Glu)
| |
| 20 | g.49905739G= | CA2368281273 | SPATA2 | c.1443C= (p.Asp481=)
| |
| 20 | g.49905739G>T | CA408945591 | SPATA2 | c.1443C>A (p.Asp481Glu)
| |
| 20 | g.49905740T>A | CA408945609 | SPATA2 | c.1442A>T (p.Asp481Val)
| |
| 20 | g.49905740T>C | CA408945605 | SPATA2 | c.1442A>G (p.Asp481Gly)
| |
| 20 | g.49905740T>G | CA408945607 | SPATA2 | c.1442A>C (p.Asp481Ala)
| |
| 20 | g.49905741C>A | CA408945611 | SPATA2 | c.1441G>T (p.Asp481Tyr)
| |
| 20 | g.49905741C>G | CA408945614 | SPATA2 | c.1441G>C (p.Asp481His)
| |
| 20 | g.49905741C>T | CA408945617 | SPATA2 | c.1441G>A (p.Asp481Asn)
| gnomAD v4 |
| 20 | g.49905742A>C | CA408945620 | SPATA2 | c.1440T>G (p.Cys480Trp)
| |
| 20 | g.49905742A>G | CA511018128 | SPATA2 | c.1440T>C (p.Cys480=)
| gnomAD v4 |
| 20 | g.49905742A>T | CA408945622 | SPATA2 | c.1440T>A (p.Cys480Ter)
| |
| 20 | g.49905743C>A | CA408945627 | SPATA2 | c.1439G>T (p.Cys480Phe)
| |
| 20 | g.49905743C>G | CA408945628 | SPATA2 | c.1439G>C (p.Cys480Ser)
| |
| 20 | g.49905743C>T | CA408945629 | SPATA2 | c.1439G>A (p.Cys480Tyr)
| |
| 20 | g.49905743_49905745delinsCAT | CA2368281274 | SPATA2 | c.1437_1439delinsATG (p.Ser479=)
| |
| 20 | g.49905744A= | CA2368281275 | SPATA2 | c.1438T= (p.Cys480=)
| |
| 20 | g.49905744A>C | CA408945631 | SPATA2 | c.1438T>G (p.Cys480Gly)
| |
| 20 | g.49905744A>G | CA408945637 | SPATA2 | c.1438T>C (p.Cys480Arg)
| dbSNP |
| 20 | g.49905744A>T | CA408945640 | SPATA2 | c.1438T>A (p.Cys480Ser)
| gnomAD v4 |
| 20 | g.49905744_49905745del | CA635954360 | SPATA2 | c.1437_1438del (p.Cys480Ter)
| dbSNP gnomAD v2 |
| 20 | g.49905745T>A | CA511018132 | SPATA2 | c.1437A>T (p.Ser479=)
| gnomAD v4 |
| 20 | g.49905745T>C | CA511018131 | SPATA2 | c.1437A>G (p.Ser479=)
| gnomAD v4 |
| 20 | g.49905745T>G | CA511018130 | SPATA2 | c.1437A>C (p.Ser479=)
| gnomAD v4 |
| 20 | g.49905746G>A | CA315121794 | SPATA2 | c.1436C>T (p.Ser479Leu)
| dbSNP |
| 20 | g.49905746G>C | CA408945649 | SPATA2 | c.1436C>G (p.Ser479Ter)
| |
| 20 | g.49905746G= | CA2368281276 | SPATA2 | c.1436C= (p.Ser479=)
| |
| 20 | g.49905746G>T | CA408945644 | SPATA2 | c.1436C>A (p.Ser479Ter)
| |
| 20 | g.49905747A= | CA2368281277 | SPATA2 | c.1435T= (p.Ser479=)
| |
| 20 | g.49905747A>C | CA408945652 | SPATA2 | c.1435T>G (p.Ser479Ala)
| |
| 20 | g.49905747A>G | CA408945654 | SPATA2 | c.1435T>C (p.Ser479Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905747A>T | CA408945656 | SPATA2 | c.1435T>A (p.Ser479Thr)
| |
| 20 | g.49905748G>A | CA511018136 | SPATA2 | c.1434C>T (p.Val478=)
| gnomAD v4 |
| 20 | g.49905748G>C | CA511018135 | SPATA2 | c.1434C>G (p.Val478=)
| |
| 20 | g.49905748G>T | CA511018134 | SPATA2 | c.1434C>A (p.Val478=)
| |
| 20 | g.49905749A>C | CA408945663 | SPATA2 | c.1433T>G (p.Val478Gly)
| |
| 20 | g.49905749A>G | CA408945664 | SPATA2 | c.1433T>C (p.Val478Ala)
| |
| 20 | g.49905749A>T | CA408945666 | SPATA2 | c.1433T>A (p.Val478Asp)
| |
| 20 | g.49905750del | CA2653279968 | SPATA2 | c.1432del (p.Val478SerfsTer30)
| gnomAD v4 |
| 20 | g.49905750C>A | CA408945668 | SPATA2 | c.1432G>T (p.Val478Phe)
| |
| 20 | g.49905750C= | CA2368281278 | SPATA2 | c.1432G= (p.Val478=)
| |
| 20 | g.49905750C>G | CA408945671 | SPATA2 | c.1432G>C (p.Val478Leu)
| |
| 20 | g.49905750C>T | CA408945673 | SPATA2 | c.1432G>A (p.Val478Ile)
| dbSNP |
