20 | g.49905532C>A | CA2653279776 | SPATA2 | c.*87G>T (n.*87G>T)
| gnomAD v4 |
20 | g.49905532C>T | CA2653279777 | SPATA2 | c.*87G>A (n.*87G>A)
| gnomAD v4 |
20 | g.49905533T>C | CA2653279779 | SPATA2 | c.*86A>G (n.*86A>G)
| gnomAD v4 |
20 | g.49905533T>G | CA2577424466 | SPATA2 | c.*86A>C (n.*86A>C)
| gnomAD v4 |
20 | g.49905534G>A | CA315121619 | SPATA2 | c.*85C>T (n.*85C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.49905534G>C | CA2653279782 | SPATA2 | c.*85C>G (n.*85C>G)
| gnomAD v4 |
20 | g.49905534G= | CA2368281167 | SPATA2 | c.*85C= (n.*85C=)
| |
20 | g.49905534G>T | CA2653279785 | SPATA2 | c.*85C>A (n.*85C>A)
| gnomAD v4 |
20 | g.49905535A>G | CA2653279788 | SPATA2 | c.*84T>C (n.*84T>C)
| gnomAD v4 |
20 | g.49905535A>T | CA2653279790 | SPATA2 | c.*84T>A (n.*84T>A)
| gnomAD v4 |
20 | g.49905536G>C | CA745212339 | SPATA2 | c.*83C>G (n.*83C>G)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.49905536G= | CA2368281168 | SPATA2 | c.*83C= (n.*83C=)
| |
20 | g.49905536G>T | CA2653279794 | SPATA2 | c.*83C>A (n.*83C>A)
| gnomAD v4 |
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)
| |