Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.158612490_158612535delCA2648555325SPTA1c.7134+284_7134+329del (n.7134+284_7134+329del)
c.7116+284_7116+329del (n.7116+284_7116+329del)
gnomAD v4
1g.158612535A=CA1201536762SPTA1c.7134+282T= (n.7134+282T=)
c.7116+282T= (n.7116+282T=)
1g.158612535A>CCA889965462SPTA1c.7134+282T>G (n.7134+282T>G)
c.7116+282T>G (n.7116+282T>G)
dbSNP gnomAD v3 gnomAD v4
1g.158612537A>GCA2648555344SPTA1c.7134+280T>C (n.7134+280T>C)
c.7116+280T>C (n.7116+280T>C)
gnomAD v4
1g.158612539G=CA1201536763SPTA1c.7134+278C= (n.7134+278C=)
c.7116+278C= (n.7116+278C=)
1g.158612539G>TCA31250311SPTA1c.7134+278C>A (n.7134+278C>A)
c.7116+278C>A (n.7116+278C>A)
dbSNP gnomAD v3 gnomAD v4
1g.158612540C>ACA2648555345SPTA1c.7134+277G>T (n.7134+277G>T)
c.7116+277G>T (n.7116+277G>T)
gnomAD v4
1g.158612540C>TCA2648555346SPTA1c.7134+277G>A (n.7134+277G>A)
c.7116+277G>A (n.7116+277G>A)
gnomAD v4
1g.158612541T>CCA31250315SPTA1c.7134+276A>G (n.7134+276A>G)
c.7116+276A>G (n.7116+276A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.158612541T=CA1147128473SPTA1c.7134+276A= (n.7134+276A=)
c.7116+276A= (n.7116+276A=)
1g.158612542C>ACA2648555347SPTA1c.7134+275G>T (n.7134+275G>T)
c.7116+275G>T (n.7116+275G>T)
gnomAD v4
1g.158612542C=CA1201536764SPTA1c.7134+275G= (n.7134+275G=)
c.7116+275G= (n.7116+275G=)
1g.158612542C>GCA2648555348SPTA1c.7134+275G>C (n.7134+275G>C)
c.7116+275G>C (n.7116+275G>C)
gnomAD v4
1g.158612542C>TCA913333159SPTA1c.7134+275G>A (n.7134+275G>A)
c.7116+275G>A (n.7116+275G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.158612543T>CCA1201536766SPTA1c.7134+274A>G (n.7134+274A>G)
c.7116+274A>G (n.7116+274A>G)
dbSNP gnomAD v4
1g.158612543T=CA1201536765SPTA1c.7134+274A= (n.7134+274A=)
c.7116+274A= (n.7116+274A=)
1g.158612545delCA2648555349SPTA1c.7134+274del (n.7134+274del)
c.7116+274del (n.7116+274del)
gnomAD v4
1g.158612544T>CCA1201536768SPTA1c.7134+273A>G (n.7134+273A>G)
c.7116+273A>G (n.7116+273A>G)
dbSNP
1g.158612544T>GCA2648555350SPTA1c.7134+273A>C (n.7134+273A>C)
c.7116+273A>C (n.7116+273A>C)
gnomAD v4
1g.158612544T=CA1201536767SPTA1c.7134+273A= (n.7134+273A=)
c.7116+273A= (n.7116+273A=)
1g.158612545T>ACA2648555351SPTA1c.7134+272A>T (n.7134+272A>T)
c.7116+272A>T (n.7116+272A>T)
gnomAD v4
1g.158612545T>CCA2648555352SPTA1c.7134+272A>G (n.7134+272A>G)
c.7116+272A>G (n.7116+272A>G)
gnomAD v4
1g.158612545T>GCA2648555353SPTA1c.7134+272A>C (n.7134+272A>C)
c.7116+272A>C (n.7116+272A>C)
gnomAD v4
1g.158612546G>ACA1008228925SPTA1c.7134+271C>T (n.7134+271C>T)
c.7116+271C>T (n.7116+271C>T)
dbSNP gnomAD v3 gnomAD v4
1g.158612546G>CCA2648555354SPTA1c.7134+271C>G (n.7134+271C>G)
c.7116+271C>G (n.7116+271C>G)
gnomAD v4
1g.158612546G=CA1146132551SPTA1c.7134+271C= (n.7134+271C=)
c.7116+271C= (n.7116+271C=)
1g.158612546G>TCA31250326SPTA1c.7134+271C>A (n.7134+271C>A)
c.7116+271C>A (n.7116+271C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.158612547A=CA1201536769SPTA1c.7134+270T= (n.7134+270T=)
c.7116+270T= (n.7116+270T=)
1g.158612547A>CCA1201536770SPTA1c.7134+270T>G (n.7134+270T>G)
c.7116+270T>G (n.7116+270T>G)
dbSNP gnomAD v4
1g.158612547A>GCA2648555355SPTA1c.7134+270T>C (n.7134+270T>C)
c.7116+270T>C (n.7116+270T>C)
gnomAD v4
1g.158612547A>TCA2648555356SPTA1c.7134+270T>A (n.7134+270T>A)
c.7116+270T>A (n.7116+270T>A)
gnomAD v4
1g.158612548A=CA1201536771SPTA1c.7134+269T= (n.7134+269T=)
c.7116+269T= (n.7116+269T=)
1g.158612548A>CCA2648555357SPTA1c.7134+269T>G (n.7134+269T>G)
c.7116+269T>G (n.7116+269T>G)
gnomAD v4
1g.158612548A>TCA889965467SPTA1c.7134+269T>A (n.7134+269T>A)
c.7116+269T>A (n.7116+269T>A)
dbSNP gnomAD v3 gnomAD v4
1g.158612549T>ACA1008228933SPTA1c.7134+268A>T (n.7134+268A>T)
c.7116+268A>T (n.7116+268A>T)
gnomAD v3 gnomAD v4
1g.158612549T>CCA2697334035SPTA1c.7134+268A>G (n.7134+268A>G)
c.7116+268A>G (n.7116+268A>G)
dbSNP
1g.158612549_158612550delCA1008228930SPTA1c.7134+267_7134+268del (n.7134+267_7134+268del)
c.7116+267_7116+268del (n.7116+267_7116+268del)
gnomAD v3 gnomAD v4
1g.158612550T>ACA1008228935SPTA1c.7134+267A>T (n.7134+267A>T)
c.7116+267A>T (n.7116+267A>T)
gnomAD v3 gnomAD v4
1g.158612551A>TCA2648555358SPTA1c.7134+266T>A (n.7134+266T>A)
c.7116+266T>A (n.7116+266T>A)
gnomAD v4
1g.158612552A>CCA2648555359SPTA1c.7134+265T>G (n.7134+265T>G)
c.7116+265T>G (n.7116+265T>G)
gnomAD v4
1g.158612552A>GCA2648555360SPTA1c.7134+265T>C (n.7134+265T>C)
c.7116+265T>C (n.7116+265T>C)
gnomAD v4
1g.158612552_158612557delinsATGAGGCA1201536772SPTA1c.7134+260_7134+265delinsCCTCAT (n.7134+260_7134+265delinsCCTCAT)
c.7116+260_7116+265delinsCCTCAT (n.7116+260_7116+265delinsCCTCAT)
1g.158612553T>ACA526546851SPTA1c.7134+264A>T (n.7134+264A>T)
c.7116+264A>T (n.7116+264A>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.158612553T>CCA2648555361SPTA1c.7134+264A>G (n.7134+264A>G)
c.7116+264A>G (n.7116+264A>G)
gnomAD v4
1g.158612553T>GCA2648555362SPTA1c.7134+264A>C (n.7134+264A>C)
c.7116+264A>C (n.7116+264A>C)
gnomAD v4
1g.158612553T=CA1201536773SPTA1c.7134+264A= (n.7134+264A=)
c.7116+264A= (n.7116+264A=)
1g.158612553_158612557delCA526546850SPTA1c.7134+260_7134+264del (n.7134+260_7134+264del)
c.7116+260_7116+264del (n.7116+260_7116+264del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.158612554G>ACA526546852SPTA1c.7134+263C>T (n.7134+263C>T)
c.7116+263C>T (n.7116+263C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.158612554G=CA1201536774SPTA1c.7134+263C= (n.7134+263C=)
c.7116+263C= (n.7116+263C=)
1g.158612554G>TCA2648555363SPTA1c.7134+263C>A (n.7134+263C>A)
c.7116+263C>A (n.7116+263C>A)
gnomAD v4
1g.158612554_158612555insTGTACA2648555364SPTA1c.7134+262_7134+263insTACA (n.7134+262_7134+263insTACA)
c.7116+262_7116+263insTACA (n.7116+262_7116+263insTACA)
gnomAD v4
1g.158612555A>GCA2648555366SPTA1c.7134+262T>C (n.7134+262T>C)
c.7116+262T>C (n.7116+262T>C)
gnomAD v4
1g.158612555A>TCA2648555365SPTA1c.7134+262T>A (n.7134+262T>A)
c.7116+262T>A (n.7116+262T>A)
gnomAD v4
1g.158612555_158612556delinsAGCA1201536775SPTA1c.7134+261_7134+262delinsCT (n.7134+261_7134+262delinsCT)
c.7116+261_7116+262delinsCT (n.7116+261_7116+262delinsCT)
1g.158612556G>ACA526546853SPTA1c.7134+261C>T (n.7134+261C>T)
c.7116+261C>T (n.7116+261C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.158612556G=CA1201536776SPTA1c.7134+261C= (n.7134+261C=)
c.7116+261C= (n.7116+261C=)
1g.158612556G>TCA2648555367SPTA1c.7134+261C>A (n.7134+261C>A)
c.7116+261C>A (n.7116+261C>A)
gnomAD v4
1g.158612556_158612557delCA1008228940SPTA1c.7134+260_7134+261del (n.7134+260_7134+261del)
c.7116+260_7116+261del (n.7116+260_7116+261del)
gnomAD v3 gnomAD v4
1g.158612557delCA1201536777SPTA1c.7134+261del (n.7134+261del)
c.7116+261del (n.7116+261del)
dbSNP gnomAD v4
1g.158612556_158612557insACA1201536778SPTA1c.7134+260_7134+261insT (n.7134+260_7134+261insT)
c.7116+260_7116+261insT (n.7116+260_7116+261insT)
dbSNP
1g.158612556_158612557insTCA2568427610SPTA1c.7134+260_7134+261insA (n.7134+260_7134+261insA)
c.7116+260_7116+261insA (n.7116+260_7116+261insA)
1g.158612556_158612557insAACA1008228946SPTA1c.7134+260_7134+261insTT (n.7134+260_7134+261insTT)
c.7116+260_7116+261insTT (n.7116+260_7116+261insTT)
dbSNP gnomAD v3 gnomAD v4
1g.158612556_158612557insCACA2746290211SPTA1c.7134+260_7134+261insTG (n.7134+260_7134+261insTG)
c.7116+260_7116+261insTG (n.7116+260_7116+261insTG)
1g.158612556_158612557insAAACA526546854SPTA1c.7134+260_7134+261insTTT (n.7134+260_7134+261insTTT)
c.7116+260_7116+261insTTT (n.7116+260_7116+261insTTT)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.158612557G>ACA526546855SPTA1c.7134+260C>T (n.7134+260C>T)
c.7116+260C>T (n.7116+260C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.158612557G=CA1201536780SPTA1c.7134+260C= (n.7134+260C=)
c.7116+260C= (n.7116+260C=)
1g.158612557_158612558delinsGACA1201536779SPTA1c.7134+259_7134+260delinsTC (n.7134+259_7134+260delinsTC)
c.7116+259_7116+260delinsTC (n.7116+259_7116+260delinsTC)
1g.158612557_158612558insGACA889965485SPTA1c.7134+259_7134+260insTC (n.7134+259_7134+260insTC)
c.7116+259_7116+260insTC (n.7116+259_7116+260insTC)
dbSNP gnomAD v3 gnomAD v4
1g.158612557_158612558insTACA1008228954SPTA1c.7134+259_7134+260insTA (n.7134+259_7134+260insTA)
c.7116+259_7116+260insTA (n.7116+259_7116+260insTA)
gnomAD v3 gnomAD v4
1g.158612558A=CA1147550834SPTA1c.7134+259T= (n.7134+259T=)
c.7116+259T= (n.7116+259T=)
1g.158612558A>GCA31250358SPTA1c.7134+259T>C (n.7134+259T>C)
c.7116+259T>C (n.7116+259T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.158612558_158612559insCACA2648555370SPTA1c.7134+259_7134+260insGT (n.7134+259_7134+260insGT)
c.7116+259_7116+260insGT (n.7116+259_7116+260insGT)
gnomAD v4
1g.158612558_158612559insCAACA2648555369SPTA1c.7134+259_7134+260insTGT (n.7134+259_7134+260insTGT)
c.7116+259_7116+260insTGT (n.7116+259_7116+260insTGT)
gnomAD v4
1g.158612560_158612561insTAAACA2648555371SPTA1c.7134+259_7134+260insATTT (n.7134+259_7134+260insATTT)
c.7116+259_7116+260insATTT (n.7116+259_7116+260insATTT)
gnomAD v4
1g.158612558_158612567delinsAAAAAAAAAACA1140535449SPTA1c.7134+250_7134+259delinsTTTTTTTTTT (n.7134+250_7134+259delinsTTTTTTTTTT)
c.7116+250_7116+259delinsTTTTTTTTTT (n.7116+250_7116+259delinsTTTTTTTTTT)
1g.158612567_158612568insAAAAAAAAAAAACA1008228955SPTA1c.7134+259_7134+260insTTTTTTTTTTTT (n.7134+259_7134+260insTTTTTTTTTTTT)
c.7116+259_7116+260insTTTTTTTTTTTT (n.7116+259_7116+260insTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
1g.158612567_158612568insAAAAAAATAAAAAAAAAAAAAAAAAAAACA916320709SPTA1c.7134+259_7134+260insTTTTTTTTTTATTTTTTTTTTTTTTTTT (n.7134+259_7134+260insTTTTTTTTTTATTTTTTTTTTTTTTTTT)
c.7116+259_7116+260insTTTTTTTTTTATTTTTTTTTTTTTTTTT (n.7116+259_7116+260insTTTTTTTTTTATTTTTTTTTTTTTTTTT)
dbSNP
1g.158612567dupCA526546856SPTA1c.7134+259dup (n.7134+259dup)
c.7116+259dup (n.7116+259dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.158612566_158612567dupCA31250345SPTA1c.7134+258_7134+259dup (n.7134+258_7134+259dup)
c.7116+258_7116+259dup (n.7116+258_7116+259dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.158612565_158612567dupCA31250354SPTA1c.7134+257_7134+259dup (n.7134+257_7134+259dup)
c.7116+257_7116+259dup (n.7116+257_7116+259dup)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.158612564_158612567dupCA526546857SPTA1c.7134+256_7134+259dup (n.7134+256_7134+259dup)
c.7116+256_7116+259dup (n.7116+256_7116+259dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.158612563_158612567dupCA1008228957SPTA1c.7134+255_7134+259dup (n.7134+255_7134+259dup)
c.7116+255_7116+259dup (n.7116+255_7116+259dup)
gnomAD v3 gnomAD v4
1g.158612562_158612567dupCA2648555373SPTA1c.7134+254_7134+259dup (n.7134+254_7134+259dup)
c.7116+254_7116+259dup (n.7116+254_7116+259dup)
gnomAD v4
1g.158612561_158612567dupCA1008228963SPTA1c.7134+253_7134+259dup (n.7134+253_7134+259dup)
c.7116+253_7116+259dup (n.7116+253_7116+259dup)
gnomAD v3 gnomAD v4
1g.158612560_158612567dupCA2648555372SPTA1c.7134+252_7134+259dup (n.7134+252_7134+259dup)
c.7116+252_7116+259dup (n.7116+252_7116+259dup)
gnomAD v4
1g.158612559_158612567dupCA2648555374SPTA1c.7134+251_7134+259dup (n.7134+251_7134+259dup)
c.7116+251_7116+259dup (n.7116+251_7116+259dup)
gnomAD v4
1g.158612558_158612567dupCA1008228956SPTA1c.7134+250_7134+259dup (n.7134+250_7134+259dup)
c.7116+250_7116+259dup (n.7116+250_7116+259dup)
gnomAD v3 gnomAD v4
1g.158612567delCA889965495SPTA1c.7134+259del (n.7134+259del)
c.7116+259del (n.7116+259del)
dbSNP gnomAD v3 gnomAD v4
1g.158612566_158612567delCA2648555368SPTA1c.7134+258_7134+259del (n.7134+258_7134+259del)
c.7116+258_7116+259del (n.7116+258_7116+259del)
gnomAD v4
1g.158612568_158612718delCA2746290216SPTA1c.7134+109_7134+259del (n.7134+109_7134+259del)
c.7116+109_7116+259del (n.7116+109_7116+259del)
1g.158612559A=CA1201536782SPTA1c.7134+258T= (n.7134+258T=)
c.7116+258T= (n.7116+258T=)
1g.158612559A>GCA1201536781SPTA1c.7134+258T>C (n.7134+258T>C)
c.7116+258T>C (n.7116+258T>C)
dbSNP gnomAD v3 gnomAD v4
1g.158612559_158612560insGACA1201536783SPTA1c.7134+258_7134+259insCT (n.7134+258_7134+259insCT)
c.7116+258_7116+259insCT (n.7116+258_7116+259insCT)
dbSNP
1g.158612560_158612561insTAACA2648555375SPTA1c.7134+258_7134+259insATT (n.7134+258_7134+259insATT)
c.7116+258_7116+259insATT (n.7116+258_7116+259insATT)
gnomAD v4
1g.158612561A=CA1201536784SPTA1c.7134+256T= (n.7134+256T=)
c.7116+256T= (n.7116+256T=)
1g.158612562A=CA1201536785SPTA1c.7134+255T= (n.7134+255T=)
c.7116+255T= (n.7116+255T=)
1g.158612562A>GCA889965500SPTA1c.7134+255T>C (n.7134+255T>C)
c.7116+255T>C (n.7116+255T>C)
dbSNP gnomAD v4
1g.158612562_158612563insTACA1008228965SPTA1c.7134+255_7134+256insAT (n.7134+255_7134+256insAT)
c.7116+255_7116+256insAT (n.7116+255_7116+256insAT)
dbSNP gnomAD v3 gnomAD v4
1g.158612563_158612564insTAACA889965498SPTA1c.7134+255_7134+256insATT (n.7134+255_7134+256insATT)
c.7116+255_7116+256insATT (n.7116+255_7116+256insATT)
dbSNP
1g.158612564_158612565insGAACA2648555376SPTA1c.7134+254_7134+255insCTT (n.7134+254_7134+255insCTT)
c.7116+254_7116+255insCTT (n.7116+254_7116+255insCTT)
gnomAD v4
1g.158612564A>GCA2648555377SPTA1c.7134+253T>C (n.7134+253T>C)
c.7116+253T>C (n.7116+253T>C)
gnomAD v4
1g.158612564_158612565insGACA2746290219SPTA1c.7134+253_7134+254insCT (n.7134+253_7134+254insCT)
c.7116+253_7116+254insCT (n.7116+253_7116+254insCT)
1g.158612568_158612569delCA2648555378SPTA1c.7134+249_7134+250del (n.7134+249_7134+250del)
c.7116+249_7116+250del (n.7116+249_7116+250del)
gnomAD v4
1g.158612567_158612568insATCA2648555381SPTA1c.7134+249_7134+250insAT (n.7134+249_7134+250insAT)
c.7116+249_7116+250insAT (n.7116+249_7116+250insAT)
gnomAD v4
1g.158612567_158612568insAATCA2648555380SPTA1c.7134+249_7134+250insATT (n.7134+249_7134+250insATT)
c.7116+249_7116+250insATT (n.7116+249_7116+250insATT)
gnomAD v4
1g.158612567_158612568insAAATCA2648555379SPTA1c.7134+249_7134+250insATTT (n.7134+249_7134+250insATTT)
c.7116+249_7116+250insATTT (n.7116+249_7116+250insATTT)
gnomAD v4
1g.158612568delCA2648555382SPTA1c.7134+249del (n.7134+249del)
c.7116+249del (n.7116+249del)
gnomAD v4
1g.158612568G>ACA646235463SPTA1c.7134+249C>T (n.7134+249C>T)
c.7116+249C>T (n.7116+249C>T)
dbSNP gnomAD v3 gnomAD v4
1g.158612568G=CA1201536786SPTA1c.7134+249C= (n.7134+249C=)
c.7116+249C= (n.7116+249C=)
1g.158612568G>TCA2648555383SPTA1c.7134+249C>A (n.7134+249C>A)
c.7116+249C>A (n.7116+249C>A)
gnomAD v4
1g.158612568_158612572delinsGAAATCA1201536787SPTA1c.7134+245_7134+249delinsATTTC (n.7134+245_7134+249delinsATTTC)
c.7116+245_7116+249delinsATTTC (n.7116+245_7116+249delinsATTTC)
1g.158612569A>CCA2648555384SPTA1c.7134+248T>G (n.7134+248T>G)
c.7116+248T>G (n.7116+248T>G)
gnomAD v4
1g.158612569A>TCA2648555385SPTA1c.7134+248T>A (n.7134+248T>A)
c.7116+248T>A (n.7116+248T>A)
gnomAD v4
1g.158612570_158612573delCA1008228968SPTA1c.7134+245_7134+248del (n.7134+245_7134+248del)
c.7116+245_7116+248del (n.7116+245_7116+248del)
dbSNP gnomAD v3 gnomAD v4
1g.158612570A=CA1201536788SPTA1c.7134+247T= (n.7134+247T=)
c.7116+247T= (n.7116+247T=)
1g.158612570A>GCA1008228971SPTA1c.7134+247T>C (n.7134+247T>C)
c.7116+247T>C (n.7116+247T>C)
dbSNP gnomAD v3 gnomAD v4
1g.158612571A>GCA2648555386SPTA1c.7134+246T>C (n.7134+246T>C)
c.7116+246T>C (n.7116+246T>C)
gnomAD v4
1g.158612572T>ACA526546858SPTA1c.7134+245A>T (n.7134+245A>T)
c.7116+245A>T (n.7116+245A>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.158612572T>CCA31250359SPTA1c.7134+245A>G (n.7134+245A>G)
c.7116+245A>G (n.7116+245A>G)
dbSNP gnomAD v3 gnomAD v4
1g.158612572T>GCA2648555388SPTA1c.7134+245A>C (n.7134+245A>C)
c.7116+245A>C (n.7116+245A>C)
gnomAD v4
1g.158612572T=CA1201536789SPTA1c.7134+245A= (n.7134+245A=)
c.7116+245A= (n.7116+245A=)
1g.158612572_158612578delCA2648555387SPTA1c.7134+239_7134+245del (n.7134+239_7134+245del)
c.7116+239_7116+245del (n.7116+239_7116+245del)
gnomAD v4
1g.158612574_158612579delCA2648555389SPTA1c.7134+240_7134+245del (n.7134+240_7134+245del)
c.7116+240_7116+245del (n.7116+240_7116+245del)
gnomAD v4
1g.158612573A>GCA2648555391SPTA1c.7134+244T>C (n.7134+244T>C)
c.7116+244T>C (n.7116+244T>C)
gnomAD v4
1g.158612573A>TCA2648555392SPTA1c.7134+244T>A (n.7134+244T>A)
c.7116+244T>A (n.7116+244T>A)
gnomAD v4
1g.158612573_158612574insAAAACA2648555390SPTA1c.7134+244_7134+245insTTTT (n.7134+244_7134+245insTTTT)
c.7116+244_7116+245insTTTT (n.7116+244_7116+245insTTTT)
gnomAD v4
1g.158612574G>ACA2648555393SPTA1c.7134+243C>T (n.7134+243C>T)
c.7116+243C>T (n.7116+243C>T)
gnomAD v4
1g.158612574G>CCA1201536791SPTA1c.7134+243C>G (n.7134+243C>G)
c.7116+243C>G (n.7116+243C>G)
dbSNP gnomAD v4
1g.158612574G=CA1201536790SPTA1c.7134+243C= (n.7134+243C=)
c.7116+243C= (n.7116+243C=)
1g.158612574G>TCA2648555394SPTA1c.7134+243C>A (n.7134+243C>A)
c.7116+243C>A (n.7116+243C>A)
gnomAD v4
1g.158612575C>ACA1008228980SPTA1c.7134+242G>T (n.7134+242G>T)
c.7116+242G>T (n.7116+242G>T)
gnomAD v3 gnomAD v4
1g.158612575C=CA1201536793SPTA1c.7134+242G= (n.7134+242G=)
c.7116+242G= (n.7116+242G=)
1g.158612575C>GCA1201536792SPTA1c.7134+242G>C (n.7134+242G>C)
c.7116+242G>C (n.7116+242G>C)
dbSNP gnomAD v4
1g.158612575C>TCA2648555395SPTA1c.7134+242G>A (n.7134+242G>A)
c.7116+242G>A (n.7116+242G>A)
gnomAD v4
1g.158612576C>ACA1201536795SPTA1c.7134+241G>T (n.7134+241G>T)
c.7116+241G>T (n.7116+241G>T)
dbSNP gnomAD v4
1g.158612576C=CA1201536794SPTA1c.7134+241G= (n.7134+241G=)
c.7116+241G= (n.7116+241G=)
1g.158612576C>TCA1201536796SPTA1c.7134+241G>A (n.7134+241G>A)
c.7116+241G>A (n.7116+241G>A)
dbSNP gnomAD v4
1g.158612577T>ACA2648555396SPTA1c.7134+240A>T (n.7134+240A>T)
c.7116+240A>T (n.7116+240A>T)
gnomAD v4
1g.158612578T>ACA2648555397SPTA1c.7134+239A>T (n.7134+239A>T)
c.7116+239A>T (n.7116+239A>T)
gnomAD v4
1g.158612583dupCA2648555398SPTA1c.7134+238dup (n.7134+238dup)
c.7116+238dup (n.7116+238dup)
gnomAD v4
1g.158612580A>GCA2648555399SPTA1c.7134+237T>C (n.7134+237T>C)
c.7116+237T>C (n.7116+237T>C)
gnomAD v4
1g.158612584C>ACA2648555400SPTA1c.7134+233G>T (n.7134+233G>T)
c.7116+233G>T (n.7116+233G>T)
gnomAD v4
1g.158612584C>GCA2648555401SPTA1c.7134+233G>C (n.7134+233G>C)
c.7116+233G>C (n.7116+233G>C)
gnomAD v4
1g.158612584C>TCA2648555402SPTA1c.7134+233G>A (n.7134+233G>A)
c.7116+233G>A (n.7116+233G>A)
gnomAD v4
1g.158612585T>CCA1201536798SPTA1c.7134+232A>G (n.7134+232A>G)
c.7116+232A>G (n.7116+232A>G)
dbSNP gnomAD v3 gnomAD v4
1g.158612585T>GCA2648555403SPTA1c.7134+232A>C (n.7134+232A>C)
c.7116+232A>C (n.7116+232A>C)
gnomAD v4
1g.158612585T=CA1201536797SPTA1c.7134+232A= (n.7134+232A=)
c.7116+232A= (n.7116+232A=)
1g.158612586G>ACA2648555404SPTA1c.7134+231C>T (n.7134+231C>T)
c.7116+231C>T (n.7116+231C>T)
gnomAD v4
1g.158612586G>CCA1008228981SPTA1c.7134+231C>G (n.7134+231C>G)
c.7116+231C>G (n.7116+231C>G)
dbSNP gnomAD v3 gnomAD v4
1g.158612586G=CA1201536799SPTA1c.7134+231C= (n.7134+231C=)
c.7116+231C= (n.7116+231C=)
1g.158612586G>TCA2648555405SPTA1c.7134+231C>A (n.7134+231C>A)
c.7116+231C>A (n.7116+231C>A)
gnomAD v4
1g.158612587A>GCA2648555406SPTA1c.7134+230T>C (n.7134+230T>C)
c.7116+230T>C (n.7116+230T>C)
gnomAD v4
1g.158612587A>TCA2648555407SPTA1c.7134+230T>A (n.7134+230T>A)
c.7116+230T>A (n.7116+230T>A)
gnomAD v4
1g.158612588G>ACA2648555408SPTA1c.7134+229C>T (n.7134+229C>T)
c.7116+229C>T (n.7116+229C>T)
gnomAD v4
1g.158612588G>TCA2648555409SPTA1c.7134+229C>A (n.7134+229C>A)
c.7116+229C>A (n.7116+229C>A)
gnomAD v4
1g.158612589T>ACA2648555410SPTA1c.7134+228A>T (n.7134+228A>T)
c.7116+228A>T (n.7116+228A>T)
gnomAD v4
1g.158612589T>GCA2605063732SPTA1c.7134+228A>C (n.7134+228A>C)
c.7116+228A>C (n.7116+228A>C)
gnomAD v3 gnomAD v4
1g.158612590T>ACA2746290225SPTA1c.7134+227A>T (n.7134+227A>T)
c.7116+227A>T (n.7116+227A>T)
1g.158612591G>CCA2648555411SPTA1c.7134+226C>G (n.7134+226C>G)
c.7116+226C>G (n.7116+226C>G)
gnomAD v4
1g.158612591G>TCA2648555412SPTA1c.7134+226C>A (n.7134+226C>A)
c.7116+226C>A (n.7116+226C>A)
gnomAD v4
1g.158612592C>ACA2648555413SPTA1c.7134+225G>T (n.7134+225G>T)
c.7116+225G>T (n.7116+225G>T)
gnomAD v4
1g.158612592C=CA1201536800SPTA1c.7134+225G= (n.7134+225G=)
c.7116+225G= (n.7116+225G=)
1g.158612592C>GCA2746290226SPTA1c.7134+225G>C (n.7134+225G>C)
c.7116+225G>C (n.7116+225G>C)
1g.158612592C>TCA31250362SPTA1c.7134+225G>A (n.7134+225G>A)
c.7116+225G>A (n.7116+225G>A)
dbSNP gnomAD v3 gnomAD v4
1g.158612593A>GCA2648555414SPTA1c.7134+224T>C (n.7134+224T>C)
c.7116+224T>C (n.7116+224T>C)
gnomAD v4
1g.158612594G>ACA2746290227SPTA1c.7134+223C>T (n.7134+223C>T)
c.7116+223C>T (n.7116+223C>T)
1g.158612594G>TCA2648555415SPTA1c.7134+223C>A (n.7134+223C>A)
c.7116+223C>A (n.7116+223C>A)
gnomAD v4
1g.158612595A=CA1201536801SPTA1c.7134+222T= (n.7134+222T=)
c.7116+222T= (n.7116+222T=)
1g.158612595A>GCA2746290228SPTA1c.7134+222T>C (n.7134+222T>C)
c.7116+222T>C (n.7116+222T>C)
1g.158612595A>TCA889965515SPTA1c.7134+222T>A (n.7134+222T>A)
c.7116+222T>A (n.7116+222T>A)
dbSNP gnomAD v3 gnomAD v4
1g.158612596T>GCA2648555417SPTA1c.7134+221A>C (n.7134+221A>C)
c.7116+221A>C (n.7116+221A>C)
gnomAD v4
1g.158612602_158612643delCA2648555416SPTA1c.7134+180_7134+221del (n.7134+180_7134+221del)
c.7116+180_7116+221del (n.7116+180_7116+221del)
gnomAD v4
1g.158612597T>ACA2648555418SPTA1c.7134+220A>T (n.7134+220A>T)
c.7116+220A>T (n.7116+220A>T)
gnomAD v4
1g.158612598T>CCA2746290230SPTA1c.7134+219A>G (n.7134+219A>G)
c.7116+219A>G (n.7116+219A>G)
1g.158612598T>GCA2648555419SPTA1c.7134+219A>C (n.7134+219A>C)
c.7116+219A>C (n.7116+219A>C)
gnomAD v4
1g.158612600G>ACA2746290232SPTA1c.7134+217C>T (n.7134+217C>T)
c.7116+217C>T (n.7116+217C>T)
1g.158612600G>CCA2648555421SPTA1c.7134+217C>G (n.7134+217C>G)
c.7116+217C>G (n.7116+217C>G)
gnomAD v4
1g.158612600G>TCA2648555420SPTA1c.7134+217C>A (n.7134+217C>A)
c.7116+217C>A (n.7116+217C>A)
gnomAD v4
1g.158612601A=CA1201536802SPTA1c.7134+216T= (n.7134+216T=)
c.7116+216T= (n.7116+216T=)
1g.158612601A>TCA31250373SPTA1c.7134+216T>A (n.7134+216T>A)
c.7116+216T>A (n.7116+216T>A)
dbSNP gnomAD v4
1g.158612601_158612621delCA2746290234SPTA1c.7134+196_7134+216del (n.7134+196_7134+216del)
c.7116+196_7116+216del (n.7116+196_7116+216del)
1g.158612602A>TCA2648555422SPTA1c.7134+215T>A (n.7134+215T>A)
c.7116+215T>A (n.7116+215T>A)
gnomAD v4
1g.158612603T>CCA889965521SPTA1c.7134+214A>G (n.7134+214A>G)
c.7116+214A>G (n.7116+214A>G)
dbSNP gnomAD v4
1g.158612603T>GCA2648555423SPTA1c.7134+214A>C (n.7134+214A>C)
c.7116+214A>C (n.7116+214A>C)
gnomAD v4
1g.158612603T=CA1201536803SPTA1c.7134+214A= (n.7134+214A=)
c.7116+214A= (n.7116+214A=)
1g.158612605G>ACA2648555424SPTA1c.7134+212C>T (n.7134+212C>T)
c.7116+212C>T (n.7116+212C>T)
gnomAD v4
1g.158612605G>TCA2648555425SPTA1c.7134+212C>A (n.7134+212C>A)
c.7116+212C>A (n.7116+212C>A)
gnomAD v4
1g.158612606_158612608delinsACTCA1201536804SPTA1c.7134+209_7134+211delinsAGT (n.7134+209_7134+211delinsAGT)
c.7116+209_7116+211delinsAGT (n.7116+209_7116+211delinsAGT)
1g.158612607C>ACA2648555426SPTA1c.7134+210G>T (n.7134+210G>T)
c.7116+210G>T (n.7116+210G>T)
gnomAD v4
1g.158612610_158612611delCA31250377SPTA1c.7134+209_7134+210del (n.7134+209_7134+210del)
c.7116+209_7116+210del (n.7116+209_7116+210del)
dbSNP
1g.158612608T>ACA2648555427SPTA1c.7134+209A>T (n.7134+209A>T)
c.7116+209A>T (n.7116+209A>T)
gnomAD v4
1g.158612609C>ACA2648555428SPTA1c.7134+208G>T (n.7134+208G>T)
c.7116+208G>T (n.7116+208G>T)
gnomAD v4
1g.158612610T>ACA2648555429SPTA1c.7134+207A>T (n.7134+207A>T)
c.7116+207A>T (n.7116+207A>T)
gnomAD v4
1g.158612610T>CCA889965532SPTA1c.7134+207A>G (n.7134+207A>G)
c.7116+207A>G (n.7116+207A>G)
dbSNP gnomAD v3 gnomAD v4
1g.158612610T=CA1201536805SPTA1c.7134+207A= (n.7134+207A=)
c.7116+207A= (n.7116+207A=)
1g.158612611C>ACA2648555430SPTA1c.7134+206G>T (n.7134+206G>T)
c.7116+206G>T (n.7116+206G>T)
gnomAD v4
1g.158612611C>GCA2648555431SPTA1c.7134+206G>C (n.7134+206G>C)
c.7116+206G>C (n.7116+206G>C)
gnomAD v4
1g.158612611C>TCA2648555432SPTA1c.7134+206G>A (n.7134+206G>A)
c.7116+206G>A (n.7116+206G>A)
gnomAD v4
1g.158612612A>CCA2648555433SPTA1c.7134+205T>G (n.7134+205T>G)
c.7116+205T>G (n.7116+205T>G)
gnomAD v4
1g.158612612A>GCA2648555435SPTA1c.7134+205T>C (n.7134+205T>C)
c.7116+205T>C (n.7116+205T>C)
gnomAD v4
1g.158612612A>TCA2648555434SPTA1c.7134+205T>A (n.7134+205T>A)
c.7116+205T>A (n.7116+205T>A)
gnomAD v4
1g.158612613C>ACA2648555436SPTA1c.7134+204G>T (n.7134+204G>T)
c.7116+204G>T (n.7116+204G>T)
gnomAD v4
1g.158612613C=CA1201536806SPTA1c.7134+204G= (n.7134+204G=)
c.7116+204G= (n.7116+204G=)
1g.158612613C>GCA2648555437SPTA1c.7134+204G>C (n.7134+204G>C)
c.7116+204G>C (n.7116+204G>C)
gnomAD v4
1g.158612613C>TCA1201536807SPTA1c.7134+204G>A (n.7134+204G>A)
c.7116+204G>A (n.7116+204G>A)
dbSNP gnomAD v4
1g.158612614A>CCA2648555438SPTA1c.7134+203T>G (n.7134+203T>G)
c.7116+203T>G (n.7116+203T>G)
gnomAD v4
1g.158612614A>TCA2648555439SPTA1c.7134+203T>A (n.7134+203T>A)
c.7116+203T>A (n.7116+203T>A)
gnomAD v4
1g.158612615T>ACA2648555440SPTA1c.7134+202A>T (n.7134+202A>T)
c.7116+202A>T (n.7116+202A>T)
gnomAD v4
1g.158612615T>CCA2648555441SPTA1c.7134+202A>G (n.7134+202A>G)
c.7116+202A>G (n.7116+202A>G)
gnomAD v4
1g.158612615T>GCA2648555442SPTA1c.7134+202A>C (n.7134+202A>C)
c.7116+202A>C (n.7116+202A>C)
gnomAD v4
1g.158612616T>ACA2648555443SPTA1c.7134+201A>T (n.7134+201A>T)
c.7116+201A>T (n.7116+201A>T)
gnomAD v4
1g.158612616T>CCA2648555444SPTA1c.7134+201A>G (n.7134+201A>G)
c.7116+201A>G (n.7116+201A>G)
gnomAD v4
1g.158612616T>GCA2648555445SPTA1c.7134+201A>C (n.7134+201A>C)
c.7116+201A>C (n.7116+201A>C)
gnomAD v4
1g.158612617C>ACA2648555448SPTA1c.7134+200G>T (n.7134+200G>T)
c.7116+200G>T (n.7116+200G>T)
gnomAD v4
1g.158612617C>GCA2648555447SPTA1c.7134+200G>C (n.7134+200G>C)
c.7116+200G>C (n.7116+200G>C)
gnomAD v4
1g.158612617C>TCA2648555446SPTA1c.7134+200G>A (n.7134+200G>A)
c.7116+200G>A (n.7116+200G>A)
gnomAD v4
1g.158612618A>GCA2648555449SPTA1c.7134+199T>C (n.7134+199T>C)
c.7116+199T>C (n.7116+199T>C)
gnomAD v4
1g.158612618A>TCA2648555450SPTA1c.7134+199T>A (n.7134+199T>A)
c.7116+199T>A (n.7116+199T>A)
gnomAD v4
1g.158612619A>GCA2648555451SPTA1c.7134+198T>C (n.7134+198T>C)
c.7116+198T>C (n.7116+198T>C)
gnomAD v4
1g.158612619A>TCA2648555452SPTA1c.7134+198T>A (n.7134+198T>A)
c.7116+198T>A (n.7116+198T>A)
gnomAD v4
1g.158612620T>ACA2648555453SPTA1c.7134+197A>T (n.7134+197A>T)
c.7116+197A>T (n.7116+197A>T)
gnomAD v4
1g.158612620T>CCA1201536809SPTA1c.7134+197A>G (n.7134+197A>G)
c.7116+197A>G (n.7116+197A>G)
dbSNP gnomAD v4
1g.158612620T>GCA2648555454SPTA1c.7134+197A>C (n.7134+197A>C)
c.7116+197A>C (n.7116+197A>C)
gnomAD v4
1g.158612620T=CA1201536808SPTA1c.7134+197A= (n.7134+197A=)
c.7116+197A= (n.7116+197A=)
1g.158612621A>CCA2648555455SPTA1c.7134+196T>G (n.7134+196T>G)
c.7116+196T>G (n.7116+196T>G)
gnomAD v4
1g.158612621A>GCA2531560807SPTA1c.7134+196T>C (n.7134+196T>C)
c.7116+196T>C (n.7116+196T>C)
gnomAD v4
1g.158612621A>TCA2648555456SPTA1c.7134+196T>A (n.7134+196T>A)
c.7116+196T>A (n.7116+196T>A)
gnomAD v4
1g.158612622G>TCA2648555457SPTA1c.7134+195C>A (n.7134+195C>A)
c.7116+195C>A (n.7116+195C>A)
gnomAD v4
1g.158612623A>GCA2648555459SPTA1c.7134+194T>C (n.7134+194T>C)
c.7116+194T>C (n.7116+194T>C)
gnomAD v4
1g.158612624_158612626dupCA2648555458SPTA1c.7134+192_7134+194dup (n.7134+192_7134+194dup)
c.7116+192_7116+194dup (n.7116+192_7116+194dup)
gnomAD v4
1g.158612624G>ACA2648555460SPTA1c.7134+193C>T (n.7134+193C>T)
c.7116+193C>T (n.7116+193C>T)
gnomAD v4
1g.158612624G>CCA889965535SPTA1c.7134+193C>G (n.7134+193C>G)
c.7116+193C>G (n.7116+193C>G)
dbSNP
1g.158612624G=CA1201536810SPTA1c.7134+193C= (n.7134+193C=)
c.7116+193C= (n.7116+193C=)
1g.158612624G>TCA2648555461SPTA1c.7134+193C>A (n.7134+193C>A)
c.7116+193C>A (n.7116+193C>A)
gnomAD v4
1g.158612625T>ACA2648555462SPTA1c.7134+192A>T (n.7134+192A>T)
c.7116+192A>T (n.7116+192A>T)
gnomAD v4
1g.158612625T>CCA2648555464SPTA1c.7134+192A>G (n.7134+192A>G)
c.7116+192A>G (n.7116+192A>G)
gnomAD v4
1g.158612625T>GCA2648555463SPTA1c.7134+192A>C (n.7134+192A>C)
c.7116+192A>C (n.7116+192A>C)
gnomAD v4
1g.158612626A>GCA2648555465SPTA1c.7134+191T>C (n.7134+191T>C)
c.7116+191T>C (n.7116+191T>C)
gnomAD v4
1g.158612626A>TCA2648555466SPTA1c.7134+191T>A (n.7134+191T>A)
c.7116+191T>A (n.7116+191T>A)
gnomAD v4
1g.158612627C>ACA2648555467SPTA1c.7134+190G>T (n.7134+190G>T)
c.7116+190G>T (n.7116+190G>T)
gnomAD v4
1g.158612627C=CA1201536811SPTA1c.7134+190G= (n.7134+190G=)
c.7116+190G= (n.7116+190G=)
1g.158612627C>GCA2648555468SPTA1c.7134+190G>C (n.7134+190G>C)
c.7116+190G>C (n.7116+190G>C)
gnomAD v4
1g.158612627C>TCA889965536SPTA1c.7134+190G>A (n.7134+190G>A)
c.7116+190G>A (n.7116+190G>A)
dbSNP gnomAD v3 gnomAD v4
1g.158612628C>ACA2648555469SPTA1c.7134+189G>T (n.7134+189G>T)
c.7116+189G>T (n.7116+189G>T)
gnomAD v4
1g.158612628C>GCA2648555470SPTA1c.7134+189G>C (n.7134+189G>C)
c.7116+189G>C (n.7116+189G>C)
gnomAD v4
1g.158612628C>TCA2648555471SPTA1c.7134+189G>A (n.7134+189G>A)
c.7116+189G>A (n.7116+189G>A)
gnomAD v4
1g.158612629A=CA1145068888SPTA1c.7134+188T= (n.7134+188T=)
c.7116+188T= (n.7116+188T=)
1g.158612629A>CCA31250382SPTA1c.7134+188T>G (n.7134+188T>G)
c.7116+188T>G (n.7116+188T>G)
dbSNP gnomAD v3 gnomAD v4
1g.158612629A>GCA2648555472SPTA1c.7134+188T>C (n.7134+188T>C)
c.7116+188T>C (n.7116+188T>C)
gnomAD v4
1g.158612629A>TCA2648555473SPTA1c.7134+188T>A (n.7134+188T>A)
c.7116+188T>A (n.7116+188T>A)
gnomAD v4
1g.158612630C>ACA2648555474SPTA1c.7134+187G>T (n.7134+187G>T)
c.7116+187G>T (n.7116+187G>T)
gnomAD v4
1g.158612630C=CA1144532704SPTA1c.7134+187G= (n.7134+187G=)
c.7116+187G= (n.7116+187G=)
1g.158612630C>GCA2648555475SPTA1c.7134+187G>C (n.7134+187G>C)
c.7116+187G>C (n.7116+187G>C)
gnomAD v4
1g.158612630C>TCA31250387SPTA1c.7134+187G>A (n.7134+187G>A)
c.7116+187G>A (n.7116+187G>A)
dbSNP gnomAD v4
1g.158612631A=CA1201536812SPTA1c.7134+186T= (n.7134+186T=)
c.7116+186T= (n.7116+186T=)
1g.158612631A>CCA2648555477SPTA1c.7134+186T>G (n.7134+186T>G)
c.7116+186T>G (n.7116+186T>G)
gnomAD v4
1g.158612631A>GCA889965538SPTA1c.7134+186T>C (n.7134+186T>C)
c.7116+186T>C (n.7116+186T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.158612631A>TCA2648555476SPTA1c.7134+186T>A (n.7134+186T>A)
c.7116+186T>A (n.7116+186T>A)
gnomAD v4
1g.158612632G>ACA2648555478SPTA1c.7134+185C>T (n.7134+185C>T)
c.7116+185C>T (n.7116+185C>T)
gnomAD v4
1g.158612632G=CA1201536813SPTA1c.7134+185C= (n.7134+185C=)
c.7116+185C= (n.7116+185C=)
1g.158612632G>TCA889965542SPTA1c.7134+185C>A (n.7134+185C>A)
c.7116+185C>A (n.7116+185C>A)
dbSNP gnomAD v3 gnomAD v4
1g.158612633T>ACA2648555479SPTA1c.7134+184A>T (n.7134+184A>T)
c.7116+184A>T (n.7116+184A>T)
gnomAD v4
1g.158612633T>CCA889965544SPTA1c.7134+184A>G (n.7134+184A>G)
c.7116+184A>G (n.7116+184A>G)
dbSNP
1g.158612633T=CA1201536814SPTA1c.7134+184A= (n.7134+184A=)
c.7116+184A= (n.7116+184A=)
1g.158612634A>GCA2648555480SPTA1c.7134+183T>C (n.7134+183T>C)
c.7116+183T>C (n.7116+183T>C)
gnomAD v4
1g.158612634A>TCA2648555481SPTA1c.7134+183T>A (n.7134+183T>A)
c.7116+183T>A (n.7116+183T>A)
gnomAD v4
1g.158612635C>ACA1201536816SPTA1c.7134+182G>T (n.7134+182G>T)
c.7116+182G>T (n.7116+182G>T)
dbSNP gnomAD v4
1g.158612635C=CA1201536815SPTA1c.7134+182G= (n.7134+182G=)
c.7116+182G= (n.7116+182G=)
1g.158612635C>TCA1201536817SPTA1c.7134+182G>A (n.7134+182G>A)
c.7116+182G>A (n.7116+182G>A)
dbSNP gnomAD v4

Number of alleles fetched