SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.49905539C>A | CA2653279796 | SPATA2 | c.*80G>T (n.*80G>T) | gnomAD v4 |
| 20 | g.49905540A>C | CA2541033428 | SPATA2 | c.*79T>G (n.*79T>G) | gnomAD v4 |
| 20 | g.49905541A= | CA2368281169 | SPATA2 | c.*78T= (n.*78T=) | |
| 20 | g.49905541A>G | CA635739005 | SPATA2 | c.*78T>C (n.*78T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905542T>C | CA1018246754 | SPATA2 | c.*77A>G (n.*77A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905542T= | CA2368281170 | SPATA2 | c.*77A= (n.*77A=) | |
| 20 | g.49905543G>A | CA510851192 | SPATA2 | c.*76C>T (n.*76C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905543G= | CA2368281171 | SPATA2 | c.*76C= (n.*76C=) | |
| 20 | g.49905544C>A | CA745212343 | SPATA2 | c.*75G>T (n.*75G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905544C= | CA2368281173 | SPATA2 | c.*75G= (n.*75G=) | |
| 20 | g.49905544C>G | CA2368281172 | SPATA2 | c.*75G>C (n.*75G>C) | dbSNP |
| 20 | g.49905544C>T | CA315121622 | SPATA2 | c.*75G>A (n.*75G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905545G>A | CA315121626 | SPATA2 | c.*74C>T (n.*74C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905545G= | CA2368281174 | SPATA2 | c.*74C= (n.*74C=) | |
| 20 | g.49905545G>T | CA2653279805 | SPATA2 | c.*74C>A (n.*74C>A) | gnomAD v4 |
| 20 | g.49905545_49905546del | CA2653279806 | SPATA2 | c.*73_*74del (n.*73_*74del) | gnomAD v4 |
| 20 | g.49905546T>G | CA745212350 | SPATA2 | c.*73A>C (n.*73A>C) | dbSNP gnomAD v4 |
| 20 | g.49905546T= | CA2368281175 | SPATA2 | c.*73A= (n.*73A=) | |
| 20 | g.49905547T>C | CA1018246757 | SPATA2 | c.*72A>G (n.*72A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905547T= | CA2368281176 | SPATA2 | c.*72A= (n.*72A=) | |
| 20 | g.49905548A>T | CA2653279813 | SPATA2 | c.*71T>A (n.*71T>A) | gnomAD v4 |
| 20 | g.49905549G>A | CA2368281178 | SPATA2 | c.*70C>T (n.*70C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905549G>C | CA1018246762 | SPATA2 | c.*70C>G (n.*70C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905549G= | CA2368281177 | SPATA2 | c.*70C= (n.*70C=) | |
| 20 | g.49905549G>T | CA2368281179 | SPATA2 | c.*70C>A (n.*70C>A) | dbSNP gnomAD v4 |
| 20 | g.49905550T>C | CA2653279819 | SPATA2 | c.*69A>G (n.*69A>G) | gnomAD v4 |
| 20 | g.49905550_49905552delinsTAC | CA2368281180 | SPATA2 | c.*67_*69delinsGTA (n.*67_*69delinsGTA) | |
| 20 | g.49905551A>C | CA2653279821 | SPATA2 | c.*68T>G (n.*68T>G) | gnomAD v4 |
| 20 | g.49905551_49905552del | CA2368281181 | SPATA2 | c.*67_*68del (n.*67_*68del) | dbSNP gnomAD v4 |
| 20 | g.49905552C>A | CA2653279823 | SPATA2 | c.*67G>T (n.*67G>T) | gnomAD v4 |
| 20 | g.49905556_49905558del | CA2653279825 | SPATA2 | c.*65_*67del (n.*65_*67del) | dbSNP gnomAD v4 |
| 20 | g.49905554T>G | CA2368281182 | SPATA2 | c.*65A>C (n.*65A>C) | dbSNP |
| 20 | g.49905554T= | CA2368281183 | SPATA2 | c.*65A= (n.*65A=) | |
| 20 | g.49905555C>A | CA2522496910 | SPATA2 | c.*64G>T (n.*64G>T) | |
| 20 | g.49905555_49905556delinsCT | CA2368281184 | SPATA2 | c.*63_*64delinsAG (n.*63_*64delinsAG) | |
| 20 | g.49905556T>C | CA2653279829 | SPATA2 | c.*63A>G (n.*63A>G) | gnomAD v4 |
| 20 | g.49905557del | CA2368281185 | SPATA2 | c.*63del (n.*63del) | dbSNP gnomAD v4 |
| 20 | g.49905557T>C | CA315121646 | SPATA2 | c.*62A>G (n.*62A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905557T= | CA2368281186 | SPATA2 | c.*62A= (n.*62A=) | |
| 20 | g.49905559A= | CA2368281187 | SPATA2 | c.*60T= (n.*60T=) | |
| 20 | g.49905559A>G | CA2368281188 | SPATA2 | c.*60T>C (n.*60T>C) | dbSNP gnomAD v4 |
| 20 | g.49905560C>A | CA2653279832 | SPATA2 | c.*59G>T (n.*59G>T) | gnomAD v4 |
| 20 | g.49905560C= | CA2368281189 | SPATA2 | c.*59G= (n.*59G=) | |
| 20 | g.49905560C>T | CA745212353 | SPATA2 | c.*59G>A (n.*59G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905561C= | CA2368281190 | SPATA2 | c.*58G= (n.*58G=) | |
| 20 | g.49905561C>T | CA315121649 | SPATA2 | c.*58G>A (n.*58G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905562G>A | CA315121651 | SPATA2 | c.*57C>T (n.*57C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905562G= | CA2368281191 | SPATA2 | c.*57C= (n.*57C=) | |
| 20 | g.49905562G>T | CA2653279838 | SPATA2 | c.*57C>A (n.*57C>A) | gnomAD v4 |
| 20 | g.49905563T>C | CA315121652 | SPATA2 | c.*56A>G (n.*56A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905563T= | CA2368281192 | SPATA2 | c.*56A= (n.*56A=) | |
| 20 | g.49905564G>A | CA2653279841 | SPATA2 | c.*55C>T (n.*55C>T) | gnomAD v4 |
| 20 | g.49905564G>T | CA2653279842 | SPATA2 | c.*55C>A (n.*55C>A) | gnomAD v4 |
| 20 | g.49905565A= | CA2368281193 | SPATA2 | c.*54T= (n.*54T=) | |
| 20 | g.49905565A>C | CA2368281194 | SPATA2 | c.*54T>G (n.*54T>G) | dbSNP |
| 20 | g.49905566_49905567insGAGAAGAGGATTGAGATGGAGGGGCAGTAGGAATCCCAAATGATTTTCCTTCTGAAACGAG | CA2653279845 | SPATA2 | c.*52_*53insCTCGTTTCAGAAGGAAAATCATTTGGGATTCCTACTGCCCCTCCATCTCAATCCTCTTCTC (n.*52_*53insCTCGTTTCAGAAGGAAAATCATTTGGGATTCCTACTGCCCCTCCATCTCAATCCTCTTCTC) | gnomAD v4 |
| 20 | g.49905567A= | CA2368281195 | SPATA2 | c.*52T= (n.*52T=) | |
| 20 | g.49905567A>C | CA315121655 | SPATA2 | c.*52T>G (n.*52T>G) | dbSNP |
| 20 | g.49905568C= | CA2368281196 | SPATA2 | c.*51G= (n.*51G=) | |
| 20 | g.49905568C>T | CA315121658 | SPATA2 | c.*51G>A (n.*51G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905569C>A | CA315121661 | SPATA2 | c.*50G>T (n.*50G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905569C= | CA2368281197 | SPATA2 | c.*50G= (n.*50G=) | |
| 20 | g.49905569C>T | CA9904791 | SPATA2 | c.*50G>A (n.*50G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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 |