| 20 | g.49905612G>T | CA2577424473 | SPATA2 | c.*7C>A (n.*7C>A)
| |
| 20 | g.49905615del | CA2816621266 | SPATA2 | c.*5del (n.*5del)
| |
| 20 | g.49905615C>A | CA9904805 | SPATA2 | c.*4G>T (n.*4G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49905615C= | CA2368281224 | SPATA2 | c.*4G= (n.*4G=)
| |
| 20 | g.49905615C>T | CA9904804 | SPATA2 | c.*4G>A (n.*4G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905616G>A | CA9904806 | SPATA2 | c.*3C>T (n.*3C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905616G= | CA2368281225 | SPATA2 | c.*3C= (n.*3C=)
| |
| 20 | g.49905617G>A | CA745212392 | SPATA2 | c.*2C>T (n.*2C>T)
| dbSNP gnomAD v4 |
| 20 | g.49905617G= | CA2368281226 | SPATA2 | c.*2C= (n.*2C=)
| |
| 20 | g.49905619C>A | CA408944959 | SPATA2 | c.1563G>T (p.Ter521Tyr)
| |
| 20 | g.49905619C>G | CA408944961 | SPATA2 | c.1563G>C (p.Ter521Tyr)
| |
| 20 | g.49905619C>T | CA510851200 | SPATA2 | c.1563G>A (p.Ter521=)
| |
| 20 | g.49905620T>A | CA408944964 | SPATA2 | c.1562A>T (p.Ter521Leu)
| |
| 20 | g.49905620T>C | CA408944966 | SPATA2 | c.1562A>G (p.Ter521Trp)
| |
| 20 | g.49905620T>G | CA408944968 | SPATA2 | c.1562A>C (p.Ter521Ser)
| |
| 20 | g.49905621A= | CA2368281227 | SPATA2 | c.1561T= (p.Ter521=)
| |
| 20 | g.49905621A>C | CA408944969 | SPATA2 | c.1561T>G (p.Ter521Glu)
| |
| 20 | g.49905621A>G | CA408944970 | SPATA2 | c.1561T>C (p.Ter521Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49905621A>T | CA408944972 | SPATA2 | c.1561T>A (p.Ter521Lys)
| |
| 20 | g.49905622T>A | CA408944975 | SPATA2 | c.1560A>T (p.Arg520Ser)
| |
| 20 | g.49905622T>C | CA510851202 | SPATA2 | c.1560A>G (p.Arg520=)
| |
| 20 | g.49905622T>G | CA408944977 | SPATA2 | c.1560A>C (p.Arg520Ser)
| gnomAD v4 |
| 20 | g.49905623C>A | CA408944981 | SPATA2 | c.1559G>T (p.Arg520Ile)
| |
| 20 | g.49905623C>G | CA408944983 | SPATA2 | c.1559G>C (p.Arg520Thr)
| |
| 20 | g.49905623C>T | CA408944979 | SPATA2 | c.1559G>A (p.Arg520Lys)
| |
| 20 | g.49905624T>A | CA408944984 | SPATA2 | c.1558A>T (p.Arg520Ter)
| |
| 20 | g.49905624T>C | CA9904807 | SPATA2 | c.1558A>G (p.Arg520Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49905624T>G | CA510851206 | SPATA2 | c.1558A>C (p.Arg520=)
| |
| 20 | g.49905624T= | CA2368281228 | SPATA2 | c.1558A= (p.Arg520=)
| |
| 20 | g.49905625G>A | CA510851209 | SPATA2 | c.1557C>T (p.Tyr519=)
| gnomAD v4 |
| 20 | g.49905625G>C | CA408944986 | SPATA2 | c.1557C>G (p.Tyr519Ter)
| |
| 20 | g.49905625G>T | CA408944988 | SPATA2 | c.1557C>A (p.Tyr519Ter)
| |
| 20 | g.49905626T>A | CA408944991 | SPATA2 | c.1556A>T (p.Tyr519Phe)
| gnomAD v4 |
| 20 | g.49905626T>C | CA408944994 | SPATA2 | c.1556A>G (p.Tyr519Cys)
| |
| 20 | g.49905626T>G | CA408944995 | SPATA2 | c.1556A>C (p.Tyr519Ser)
| |
| 20 | g.49905627A>C | CA408944998 | SPATA2 | c.1555T>G (p.Tyr519Asp)
| |
| 20 | g.49905627A>G | CA408945000 | SPATA2 | c.1555T>C (p.Tyr519His)
| |
| 20 | g.49905627A>T | CA408945007 | SPATA2 | c.1555T>A (p.Tyr519Asn)
| |
| 20 | g.49905628C>A | CA510851213 | SPATA2 | c.1554G>T (p.Val518=)
| |
| 20 | g.49905628C= | CA2368281229 | SPATA2 | c.1554G= (p.Val518=)
| |
| 20 | g.49905628C>G | CA510851214 | SPATA2 | c.1554G>C (p.Val518=)
| |
| 20 | g.49905628C>T | CA510851215 | SPATA2 | c.1554G>A (p.Val518=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49905629A>C | CA408945010 | SPATA2 | c.1553T>G (p.Val518Gly)
| |
| 20 | g.49905629A>G | CA408945012 | SPATA2 | c.1553T>C (p.Val518Ala)
| |
| 20 | g.49905629A>T | CA408945016 | SPATA2 | c.1553T>A (p.Val518Glu)
| |
| 20 | g.49905630C>A | CA408945021 | SPATA2 | c.1552G>T (p.Val518Leu)
| COSMIC |
| 20 | g.49905630C= | CA2368281230 | SPATA2 | c.1552G= (p.Val518=)
| |
| 20 | g.49905630C>G | CA408945019 | SPATA2 | c.1552G>C (p.Val518Leu)
| |
| 20 | g.49905630C>T | CA9904808 | SPATA2 | c.1552G>A (p.Val518Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905631G>A | CA9904809 | SPATA2 | c.1551C>T (p.Leu517=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905631G>C | CA510851216 | SPATA2 | c.1551C>G (p.Leu517=)
| |
| 20 | g.49905631G= | CA2368281231 | SPATA2 | c.1551C= (p.Leu517=)
| |
| 20 | g.49905631G>T | CA510851217 | SPATA2 | c.1551C>A (p.Leu517=)
| |
| 20 | g.49905632A>C | CA408945023 | SPATA2 | c.1550T>G (p.Leu517Arg)
| |
| 20 | g.49905632A>G | CA408945025 | SPATA2 | c.1550T>C (p.Leu517Pro)
| |
| 20 | g.49905632A>T | CA408945026 | SPATA2 | c.1550T>A (p.Leu517His)
| |
| 20 | g.49905633G>A | CA408945027 | SPATA2 | c.1549C>T (p.Leu517Phe)
| gnomAD v4 |
| 20 | g.49905633G>C | CA408945028 | SPATA2 | c.1549C>G (p.Leu517Val)
| |
| 20 | g.49905633G= | CA2368281232 | SPATA2 | c.1549C= (p.Leu517=)
| |
| 20 | g.49905633G>T | CA408945031 | SPATA2 | c.1549C>A (p.Leu517Ile)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49905634A>C | CA408945033 | SPATA2 | c.1548T>G (p.His516Gln)
| |
| 20 | g.49905634A>G | CA510851219 | SPATA2 | c.1548T>C (p.His516=)
| |
| 20 | g.49905634A>T | CA408945035 | SPATA2 | c.1548T>A (p.His516Gln)
| |
| 20 | g.49905635T>A | CA408945037 | SPATA2 | c.1547A>T (p.His516Leu)
| |
| 20 | g.49905635T>C | CA315121736 | SPATA2 | c.1547A>G (p.His516Arg)
| dbSNP gnomAD v4 |
| 20 | g.49905635T>G | CA408945039 | SPATA2 | c.1547A>C (p.His516Pro)
| |
| 20 | g.49905635T= | CA2368281233 | SPATA2 | c.1547A= (p.His516=)
| |
| 20 | g.49905636G>A | CA408945046 | SPATA2 | c.1546C>T (p.His516Tyr)
| gnomAD v4 |
| 20 | g.49905636G>C | CA408945045 | SPATA2 | c.1546C>G (p.His516Asp)
| |
| 20 | g.49905636G>T | CA408945043 | SPATA2 | c.1546C>A (p.His516Asn)
| |
| 20 | g.49905637G>A | CA510851220 | SPATA2 | c.1545C>T (p.Ser515=)
| |
| 20 | g.49905637G>C | CA510851221 | SPATA2 | c.1545C>G (p.Ser515=)
| |
| 20 | g.49905637G>T | CA510851222 | SPATA2 | c.1545C>A (p.Ser515=)
| gnomAD v4 |
| 20 | g.49905638G>A | CA408945049 | SPATA2 | c.1544C>T (p.Ser515Phe)
| |
| 20 | g.49905638G>C | CA408945054 | SPATA2 | c.1544C>G (p.Ser515Cys)
| |
| 20 | g.49905638G>T | CA408945056 | SPATA2 | c.1544C>A (p.Ser515Tyr)
| |
| 20 | g.49905639A>C | CA408945060 | SPATA2 | c.1543T>G (p.Ser515Ala)
| |
| 20 | g.49905639A>G | CA408945063 | SPATA2 | c.1543T>C (p.Ser515Pro)
| |
| 20 | g.49905639A>T | CA408945064 | SPATA2 | c.1543T>A (p.Ser515Thr)
| |
| 20 | g.49905640G>A | CA510851224 | SPATA2 | c.1542C>T (p.Leu514=)
| |
| 20 | g.49905640G>C | CA510851226 | SPATA2 | c.1542C>G (p.Leu514=)
| gnomAD v4 |
| 20 | g.49905640G>T | CA510851225 | SPATA2 | c.1542C>A (p.Leu514=)
| |
| 20 | g.49905641A>C | CA408945070 | SPATA2 | c.1541T>G (p.Leu514Arg)
| gnomAD v4 |
| 20 | g.49905641A>G | CA408945065 | SPATA2 | c.1541T>C (p.Leu514Pro)
| |
| 20 | g.49905641A>T | CA408945066 | SPATA2 | c.1541T>A (p.Leu514His)
| |
| 20 | g.49905642G>A | CA408945073 | SPATA2 | c.1540C>T (p.Leu514Phe)
| |
| 20 | g.49905642G>C | CA408945075 | SPATA2 | c.1540C>G (p.Leu514Val)
| |
| 20 | g.49905642G>T | CA408945077 | SPATA2 | c.1540C>A (p.Leu514Ile)
| |
| 20 | g.49905643C>A | CA408945080 | SPATA2 | c.1539G>T (p.Gln513His)
| |
| 20 | g.49905643C>G | CA408945081 | SPATA2 | c.1539G>C (p.Gln513His)
| |
| 20 | g.49905643C>T | CA510851227 | SPATA2 | c.1539G>A (p.Gln513=)
| |
| 20 | g.49905644T>A | CA408945084 | SPATA2 | c.1538A>T (p.Gln513Leu)
| |
| 20 | g.49905644T>C | CA9904810 | SPATA2 | c.1538A>G (p.Gln513Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49905644T>G | CA408945083 | SPATA2 | c.1538A>C (p.Gln513Pro)
| |
| 20 | g.49905644T= | CA2368281234 | SPATA2 | c.1538A= (p.Gln513=)
| |
| 20 | g.49905645G>A | CA408945085 | SPATA2 | c.1537C>T (p.Gln513Ter)
| |
| 20 | g.49905645G>C | CA408945087 | SPATA2 | c.1537C>G (p.Gln513Glu)
| |
| 20 | g.49905645G>T | CA408945089 | SPATA2 | c.1537C>A (p.Gln513Lys)
| |
| 20 | g.49905646G>A | CA510851228 | SPATA2 | c.1536C>T (p.Thr512=)
| |
| 20 | g.49905646G>C | CA510851230 | SPATA2 | c.1536C>G (p.Thr512=)
| dbSNP gnomAD v4 |
| 20 | g.49905646G= | CA2368281235 | SPATA2 | c.1536C= (p.Thr512=)
| |
| 20 | g.49905646G>T | CA510851229 | SPATA2 | c.1536C>A (p.Thr512=)
| |
| 20 | g.49905647G>A | CA408945092 | SPATA2 | c.1535C>T (p.Thr512Ile)
| gnomAD v4 |
| 20 | g.49905647G>C | CA408945094 | SPATA2 | c.1535C>G (p.Thr512Ser)
| |
| 20 | g.49905647G>T | CA408945103 | SPATA2 | c.1535C>A (p.Thr512Asn)
| COSMIC |
| 20 | g.49905648T>A | CA408945106 | SPATA2 | c.1534A>T (p.Thr512Ser)
| |
| 20 | g.49905648T>C | CA408945107 | SPATA2 | c.1534A>G (p.Thr512Ala)
| dbSNP gnomAD v4 |
| 20 | g.49905648T>G | CA408945109 | SPATA2 | c.1534A>C (p.Thr512Pro)
| |
| 20 | g.49905648T= | CA2368281236 | SPATA2 | c.1534A= (p.Thr512=)
| |
| 20 | g.49905649G>A | CA9904811 | SPATA2 | c.1533C>T (p.Ser511=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49905649G>C | CA510851232 | SPATA2 | c.1533C>G (p.Ser511=)
| |
| 20 | g.49905649G= | CA2368281237 | SPATA2 | c.1533C= (p.Ser511=)
| |
| 20 | g.49905649G>T | CA510851233 | SPATA2 | c.1533C>A (p.Ser511=)
| |
| 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)
| |
