20 | g.49905570C= | CA2368281198 | SPATA2 | c.*49G= (n.*49G=)
| |
20 | g.49905570C>T | CA9904792 | SPATA2 | c.*49G>A (n.*49G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.49905571G>A | CA9904793 | SPATA2 | c.*48C>T (n.*48C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.49905571G= | CA2368281199 | SPATA2 | c.*48C= (n.*48C=)
| |
20 | g.49905572A= | CA2368281200 | SPATA2 | c.*47T= (n.*47T=)
| |
20 | g.49905572A>C | CA2368281201 | SPATA2 | c.*47T>G (n.*47T>G)
| dbSNP gnomAD v4 |
20 | g.49905572A>G | CA9904794 | SPATA2 | c.*47T>C (n.*47T>C)
| dbSNP ExAC gnomAD v2 |
20 | g.49905574dup | CA658132616 | SPATA2 | c.*47dup (n.*47dup)
| COSMIC |
20 | g.49905573A= | CA2368281202 | SPATA2 | c.*46T= (n.*46T=)
| |
20 | g.49905573A>G | CA9904795 | SPATA2 | c.*46T>C (n.*46T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.49905575G>T | CA2653279858 | SPATA2 | c.*44C>A (n.*44C>A)
| gnomAD v4 |
20 | g.49905576G>A | CA2577424467 | SPATA2 | c.*43C>T (n.*43C>T)
| gnomAD v4 |
20 | g.49905576G>T | CA2555611365 | SPATA2 | c.*43C>A (n.*43C>A)
| |
20 | g.49905577T>C | CA315121680 | SPATA2 | c.*42A>G (n.*42A>G)
| dbSNP |
20 | g.49905577T= | CA2368281203 | SPATA2 | c.*42A= (n.*42A=)
| |
20 | g.49905578C>A | CA315121684 | SPATA2 | c.*41G>T (n.*41G>T)
| dbSNP gnomAD v4 |
20 | g.49905578C= | CA2368281204 | SPATA2 | c.*41G= (n.*41G=)
| |
20 | g.49905578C>G | CA2593967138 | SPATA2 | c.*41G>C (n.*41G>C)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.49905578C>T | CA745212364 | SPATA2 | c.*41G>A (n.*41G>A)
| dbSNP gnomAD v4 |
20 | g.49905579G>A | CA9904796 | SPATA2 | c.*40C>T (n.*40C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.49905579G>C | CA9904797 | SPATA2 | c.*40C>G (n.*40C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.49905579G= | CA2368281205 | SPATA2 | c.*40C= (n.*40C=)
| |
20 | g.49905579G>T | CA2653279864 | SPATA2 | c.*40C>A (n.*40C>A)
| gnomAD v4 |
20 | g.49905580G>A | CA2368281207 | SPATA2 | c.*39C>T (n.*39C>T)
| dbSNP |
20 | g.49905580G>C | CA315121702 | SPATA2 | c.*39C>G (n.*39C>G)
| dbSNP gnomAD v4 |
20 | g.49905580G= | CA2368281206 | SPATA2 | c.*39C= (n.*39C=)
| |
20 | g.49905580G>T | CA2653279867 | SPATA2 | c.*39C>A (n.*39C>A)
| gnomAD v4 |
20 | g.49905581T>C | CA9904798 | SPATA2 | c.*38A>G (n.*38A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.49905581T= | CA2368281208 | SPATA2 | c.*38A= (n.*38A=)
| |
20 | g.49905585T>C | CA2368281210 | SPATA2 | c.*34A>G (n.*34A>G)
| dbSNP gnomAD v4 |
20 | g.49905585T= | CA2368281209 | SPATA2 | c.*34A= (n.*34A=)
| |
20 | g.49905586G>A | CA9904799 | SPATA2 | c.*33C>T (n.*33C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.49905586G= | CA2368281211 | SPATA2 | c.*33C= (n.*33C=)
| |
20 | g.49905586G>T | CA2816621265 | SPATA2 | c.*33C>A (n.*33C>A)
| |
20 | g.49905587T>A | CA2580642437 | SPATA2 | c.*32A>T (n.*32A>T)
| |
20 | g.49905587T>C | CA2577424468 | SPATA2 | c.*32A>G (n.*32A>G)
| gnomAD v4 |
20 | g.49905587T>G | CA9904800 | SPATA2 | c.*32A>C (n.*32A>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.49905587T= | CA2368281212 | SPATA2 | c.*32A= (n.*32A=)
| |
20 | g.49905589G>A | CA635739030 | SPATA2 | c.*30C>T (n.*30C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.49905589G= | CA2368281213 | SPATA2 | c.*30C= (n.*30C=)
| |
20 | g.49905590C>T | CA2577424469 | SPATA2 | c.*29G>A (n.*29G>A)
| |
20 | g.49905591C= | CA2368281214 | SPATA2 | c.*28G= (n.*28G=)
| |
20 | g.49905591C>T | CA9904801 | SPATA2 | c.*28G>A (n.*28G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.49905594T>A | CA2577424470 | SPATA2 | c.*25A>T (n.*25A>T)
| |
20 | g.49905594T>C | CA745212378 | SPATA2 | c.*25A>G (n.*25A>G)
| dbSNP |
20 | g.49905594T= | CA2368281215 | SPATA2 | c.*25A= (n.*25A=)
| |
20 | g.49905595G>A | CA2653279887 | SPATA2 | c.*24C>T (n.*24C>T)
| gnomAD v4 |
20 | g.49905596del | CA2577424471 | SPATA2 | c.*24del (n.*24del)
| |
20 | g.49905596G>T | CA2593967139 | SPATA2 | c.*23C>A (n.*23C>A)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.49905597A>T | CA2577424472 | SPATA2 | c.*22T>A (n.*22T>A)
| |
20 | g.49905599C>A | CA2653279888 | SPATA2 | c.*20G>T (n.*20G>T)
| gnomAD v4 |
20 | g.49905599C= | CA2368281216 | SPATA2 | c.*20G= (n.*20G=)
| |
20 | g.49905599C>G | CA2368281217 | SPATA2 | c.*20G>C (n.*20G>C)
| dbSNP gnomAD v4 |
20 | g.49905600T>C | CA2593967140 | SPATA2 | c.*19A>G (n.*19A>G)
| gnomAD v3 gnomAD v4 |
20 | g.49905601G>C | CA745212379 | SPATA2 | c.*18C>G (n.*18C>G)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.49905601G= | CA2368281218 | SPATA2 | c.*18C= (n.*18C=)
| |
20 | g.49905602G>A | CA2653279895 | SPATA2 | c.*17C>T (n.*17C>T)
| gnomAD v4 |
20 | g.49905602G>C | CA635739034 | SPATA2 | c.*17C>G (n.*17C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.49905602G= | CA2368281220 | SPATA2 | c.*17C= (n.*17C=)
| |
20 | g.49905602_49905603delinsGA | CA2368281219 | SPATA2 | c.*16_*17delinsTC (n.*16_*17delinsTC)
| |
20 | g.49905604del | CA315121720 | SPATA2 | c.*16del (n.*16del)
| dbSNP |
20 | g.49905608del | CA2653279898 | SPATA2 | c.*14del (n.*14del)
| gnomAD v4 |
20 | g.49905606G>A | CA2653279900 | SPATA2 | c.*13C>T (n.*13C>T)
| gnomAD v4 |
20 | g.49905607G>A | CA315121721 | SPATA2 | c.*12C>T (n.*12C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.49905607G>C | CA315121722 | SPATA2 | c.*12C>G (n.*12C>G)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.49905607G= | CA2368281221 | SPATA2 | c.*12C= (n.*12C=)
| |
20 | g.49905609C>A | CA315121723 | SPATA2 | c.*10G>T (n.*10G>T)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.49905609C= | CA2368281222 | SPATA2 | c.*10G= (n.*10G=)
| |
20 | g.49905609C>T | CA9904802 | SPATA2 | c.*10G>A (n.*10G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.49905610G>A | CA9904803 | SPATA2 | c.*9C>T (n.*9C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.49905610G= | CA2368281223 | SPATA2 | c.*9C= (n.*9C=)
| |
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 |