Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.158612469G>TCA2648555318OR10Z1,SPTA1c.*5089G>T (n.*5089G>T)
c.7134+348C>A (n.7134+348C>A)
c.7116+348C>A (n.7116+348C>A)
 gnomAD v4
1g.158612475A>GCA2648555319OR10Z1,SPTA1c.*5095A>G (n.*5095A>G)
c.7134+342T>C (n.7134+342T>C)
c.7116+342T>C (n.7116+342T>C)
 gnomAD v4
1g.158612476G>CCA889965441OR10Z1,SPTA1c.*5096G>C (n.*5096G>C)
c.7134+341C>G (n.7134+341C>G)
c.7116+341C>G (n.7116+341C>G)
 dbSNP gnomAD v4
1g.158612476G=CA1201536734OR10Z1,SPTA1c.*5096G= (n.*5096G=)
c.7134+341C= (n.7134+341C=)
c.7116+341C= (n.7116+341C=)
1g.158612477G>TCA2648555320OR10Z1,SPTA1c.*5097G>T (n.*5097G>T)
c.7134+340C>A (n.7134+340C>A)
c.7116+340C>A (n.7116+340C>A)
 gnomAD v4
1g.158612478G>ACA2648555321OR10Z1,SPTA1c.*5098G>A (n.*5098G>A)
c.7134+339C>T (n.7134+339C>T)
c.7116+339C>T (n.7116+339C>T)
 gnomAD v4
1g.158612480C>ACA2648555322OR10Z1,SPTA1c.*5100C>A (n.*5100C>A)
c.7134+337G>T (n.7134+337G>T)
c.7116+337G>T (n.7116+337G>T)
 gnomAD v4
1g.158612480C=CA1147227157OR10Z1,SPTA1c.*5100C= (n.*5100C=)
c.7134+337G= (n.7134+337G=)
c.7116+337G= (n.7116+337G=)
1g.158612480C>TCA31250274OR10Z1,SPTA1c.*5100C>T (n.*5100C>T)
c.7134+337G>A (n.7134+337G>A)
c.7116+337G>A (n.7116+337G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.158612480_158612482delinsCTGCA1201536735OR10Z1,SPTA1c.*5100_*5102delinsCTG (n.*5100_*5102delinsCTG)
c.7134+335_7134+337delinsCAG (n.7134+335_7134+337delinsCAG)
c.7116+335_7116+337delinsCAG (n.7116+335_7116+337delinsCAG)
1g.158612484_158612485delCA1008228895OR10Z1,SPTA1c.*5104_*5105del (n.*5104_*5105del)
c.7134+335_7134+336del (n.7134+335_7134+336del)
c.7116+335_7116+336del (n.7116+335_7116+336del)
 dbSNP gnomAD v3 gnomAD v4
1g.158612482G>ACA889965445OR10Z1,SPTA1c.*5102G>A (n.*5102G>A)
c.7134+335C>T (n.7134+335C>T)
c.7116+335C>T (n.7116+335C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.158612482G=CA1201536736OR10Z1,SPTA1c.*5102G= (n.*5102G=)
c.7134+335C= (n.7134+335C=)
c.7116+335C= (n.7116+335C=)
1g.158612484G>TCA2648555323OR10Z1,SPTA1c.*5104G>T (n.*5104G>T)
c.7134+333C>A (n.7134+333C>A)
c.7116+333C>A (n.7116+333C>A)
 gnomAD v4
1g.158612486C>ACA2648555324OR10Z1,SPTA1c.*5106C>A (n.*5106C>A)
c.7134+331G>T (n.7134+331G>T)
c.7116+331G>T (n.7116+331G>T)
 gnomAD v4
1g.158612487T>CCA31250279OR10Z1,SPTA1c.*5107T>C (n.*5107T>C)
c.7134+330A>G (n.7134+330A>G)
c.7116+330A>G (n.7116+330A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.158612487T=CA1201536737OR10Z1,SPTA1c.*5107T= (n.*5107T=)
c.7134+330A= (n.7134+330A=)
c.7116+330A= (n.7116+330A=)
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.158612488_158612489insTAACA2648555326OR10Z1,SPTA1c.*5108_*5109insTAA (n.*5108_*5109insTAA)
c.7134+328_7134+329insTTA (n.7134+328_7134+329insTTA)
c.7116+328_7116+329insTTA (n.7116+328_7116+329insTTA)
 gnomAD v4
1g.158612489A>GCA2697333950OR10Z1,SPTA1c.*5109A>G (n.*5109A>G)
c.7134+328T>C (n.7134+328T>C)
c.7116+328T>C (n.7116+328T>C)
 dbSNP
1g.158612490C>ACA2648555327OR10Z1,SPTA1c.*5110C>A (n.*5110C>A)
c.7134+327G>T (n.7134+327G>T)
c.7116+327G>T (n.7116+327G>T)
 gnomAD v4
1g.158612491T>ACA2648555328OR10Z1,SPTA1c.*5111T>A (n.*5111T>A)
c.7134+326A>T (n.7134+326A>T)
c.7116+326A>T (n.7116+326A>T)
 gnomAD v4
1g.158612491T>CCA2648555329OR10Z1,SPTA1c.*5111T>C (n.*5111T>C)
c.7134+326A>G (n.7134+326A>G)
c.7116+326A>G (n.7116+326A>G)
 gnomAD v4
1g.158612492A=CA1201536738OR10Z1,SPTA1c.*5112A= (n.*5112A=)
c.7134+325T= (n.7134+325T=)
c.7116+325T= (n.7116+325T=)
1g.158612492A>GCA1201536739OR10Z1,SPTA1c.*5112A>G (n.*5112A>G)
c.7134+325T>C (n.7134+325T>C)
c.7116+325T>C (n.7116+325T>C)
 dbSNP gnomAD v4
1g.158612495G>TCA646235462OR10Z1,SPTA1c.*5115G>T (n.*5115G>T)
c.7134+322C>A (n.7134+322C>A)
c.7116+322C>A (n.7116+322C>A)
 COSMIC COSMIC
1g.158612497T>GCA2648555330OR10Z1,SPTA1c.*5117T>G (n.*5117T>G)
c.7134+320A>C (n.7134+320A>C)
c.7116+320A>C (n.7116+320A>C)
 gnomAD v4
1g.158612498T>GCA1008228899OR10Z1,SPTA1c.*5118T>G (n.*5118T>G)
c.7134+319A>C (n.7134+319A>C)
c.7116+319A>C (n.7116+319A>C)
 dbSNP gnomAD v3 gnomAD v4
1g.158612498T=CA1201536740OR10Z1,SPTA1c.*5118T= (n.*5118T=)
c.7134+319A= (n.7134+319A=)
c.7116+319A= (n.7116+319A=)
1g.158612499G>ACA2648555331OR10Z1,SPTA1c.*5119G>A (n.*5119G>A)
c.7134+318C>T (n.7134+318C>T)
c.7116+318C>T (n.7116+318C>T)
 gnomAD v4
1g.158612499G>TCA2648555332OR10Z1,SPTA1c.*5119G>T (n.*5119G>T)
c.7134+318C>A (n.7134+318C>A)
c.7116+318C>A (n.7116+318C>A)
 gnomAD v4
1g.158612500C>ACA1008228905OR10Z1,SPTA1c.*5120C>A (n.*5120C>A)
c.7134+317G>T (n.7134+317G>T)
c.7116+317G>T (n.7116+317G>T)
 dbSNP gnomAD v3 gnomAD v4
1g.158612500C=CA1201536741OR10Z1,SPTA1c.*5120C= (n.*5120C=)
c.7134+317G= (n.7134+317G=)
c.7116+317G= (n.7116+317G=)
1g.158612500C>TCA889965448OR10Z1,SPTA1c.*5120C>T (n.*5120C>T)
c.7134+317G>A (n.7134+317G>A)
c.7116+317G>A (n.7116+317G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.158612502C>ACA2648555333OR10Z1,SPTA1c.*5122C>A (n.*5122C>A)
c.7134+315G>T (n.7134+315G>T)
c.7116+315G>T (n.7116+315G>T)
 gnomAD v4
1g.158612502C=CA1201536742OR10Z1,SPTA1c.*5122C= (n.*5122C=)
c.7134+315G= (n.7134+315G=)
c.7116+315G= (n.7116+315G=)
1g.158612502C>TCA1008228910OR10Z1,SPTA1c.*5122C>T (n.*5122C>T)
c.7134+315G>A (n.7134+315G>A)
c.7116+315G>A (n.7116+315G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.158612503T>ACA31250283OR10Z1,SPTA1c.*5123T>A (n.*5123T>A)
c.7134+314A>T (n.7134+314A>T)
c.7116+314A>T (n.7116+314A>T)
 dbSNP
1g.158612503T=CA1201536743OR10Z1,SPTA1c.*5123T= (n.*5123T=)
c.7134+314A= (n.7134+314A=)
c.7116+314A= (n.7116+314A=)
1g.158612504C=CA1201536744OR10Z1,SPTA1c.*5124C= (n.*5124C=)
c.7134+313G= (n.7134+313G=)
c.7116+313G= (n.7116+313G=)
1g.158612504C>TCA31250290OR10Z1,SPTA1c.*5124C>T (n.*5124C>T)
c.7134+313G>A (n.7134+313G>A)
c.7116+313G>A (n.7116+313G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.158612505C>ACA2648555334OR10Z1,SPTA1c.*5125C>A (n.*5125C>A)
c.7134+312G>T (n.7134+312G>T)
c.7116+312G>T (n.7116+312G>T)
 gnomAD v4
1g.158612505C=CA1201536745OR10Z1,SPTA1c.*5125C= (n.*5125C=)
c.7134+312G= (n.7134+312G=)
c.7116+312G= (n.7116+312G=)
1g.158612505C>TCA1201536746OR10Z1,SPTA1c.*5125C>T (n.*5125C>T)
c.7134+312G>A (n.7134+312G>A)
c.7116+312G>A (n.7116+312G>A)
 dbSNP
1g.158612507C>ACA2648555335OR10Z1,SPTA1c.*5127C>A (n.*5127C>A)
c.7134+310G>T (n.7134+310G>T)
c.7116+310G>T (n.7116+310G>T)
 gnomAD v4
1g.158612507C=CA1144253472OR10Z1,SPTA1c.*5127C= (n.*5127C=)
c.7134+310G= (n.7134+310G=)
c.7116+310G= (n.7116+310G=)
1g.158612507C>TCA31250293OR10Z1,SPTA1c.*5127C>T (n.*5127C>T)
c.7134+310G>A (n.7134+310G>A)
c.7116+310G>A (n.7116+310G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.158612508A=CA1201536747OR10Z1,SPTA1c.*5128A= (n.*5128A=)
c.7134+309T= (n.7134+309T=)
c.7116+309T= (n.7116+309T=)
1g.158612508A>GCA31250300OR10Z1,SPTA1c.*5128A>G (n.*5128A>G)
c.7134+309T>C (n.7134+309T>C)
c.7116+309T>C (n.7116+309T>C)
 dbSNP
1g.158612510G=CA1201536748OR10Z1,SPTA1c.*5130G= (n.*5130G=)
c.7134+307C= (n.7134+307C=)
c.7116+307C= (n.7116+307C=)
1g.158612510G>TCA31250304OR10Z1,SPTA1c.*5130G>T (n.*5130G>T)
c.7134+307C>A (n.7134+307C>A)
c.7116+307C>A (n.7116+307C>A)
 dbSNP gnomAD v4
1g.158612511C>ACA2648555336OR10Z1,SPTA1c.*5131C>A (n.*5131C>A)
c.7134+306G>T (n.7134+306G>T)
c.7116+306G>T (n.7116+306G>T)
 gnomAD v4
1g.158612511C>TCA2697334022OR10Z1,SPTA1c.*5131C>T (n.*5131C>T)
c.7134+306G>A (n.7134+306G>A)
c.7116+306G>A (n.7116+306G>A)
 dbSNP
1g.158612512C=CA1201536749OR10Z1,SPTA1c.*5132C= (n.*5132C=)
c.7134+305G= (n.7134+305G=)
c.7116+305G= (n.7116+305G=)
1g.158612512C>TCA889965454OR10Z1,SPTA1c.*5132C>T (n.*5132C>T)
c.7134+305G>A (n.7134+305G>A)
c.7116+305G>A (n.7116+305G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.158612513T>CCA2648555337OR10Z1,SPTA1c.*5133T>C (n.*5133T>C)
c.7134+304A>G (n.7134+304A>G)
c.7116+304A>G (n.7116+304A>G)
 gnomAD v4
1g.158612515G>TCA2648555338SPTA1c.7134+302C>A (n.7134+302C>A)
c.7116+302C>A (n.7116+302C>A)
 gnomAD v4
1g.158612517A=CA1201536750SPTA1c.7134+300T= (n.7134+300T=)
c.7116+300T= (n.7116+300T=)
1g.158612517A>GCA889965459SPTA1c.7134+300T>C (n.7134+300T>C)
c.7116+300T>C (n.7116+300T>C)
 dbSNP gnomAD v3 gnomAD v4
1g.158612517A>TCA2746290204SPTA1c.7134+300T>A (n.7134+300T>A)
c.7116+300T>A (n.7116+300T>A)
1g.158612518C>ACA1008228918SPTA1c.7134+299G>T (n.7134+299G>T)
c.7116+299G>T (n.7116+299G>T)
 gnomAD v3 gnomAD v4
1g.158612519_158612522delinsATAGCA1201536751SPTA1c.7134+295_7134+298delinsCTAT (n.7134+295_7134+298delinsCTAT)
c.7116+295_7116+298delinsCTAT (n.7116+295_7116+298delinsCTAT)
1g.158612520T>CCA31250306SPTA1c.7134+297A>G (n.7134+297A>G)
c.7116+297A>G (n.7116+297A>G)
 dbSNP gnomAD v4
1g.158612520T>GCA2648555339SPTA1c.7134+297A>C (n.7134+297A>C)
c.7116+297A>C (n.7116+297A>C)
 gnomAD v4
1g.158612520T=CA1201536752SPTA1c.7134+297A= (n.7134+297A=)
c.7116+297A= (n.7116+297A=)
1g.158612522_158612524delCA916320708SPTA1c.7134+295_7134+297del (n.7134+295_7134+297del)
c.7116+295_7116+297del (n.7116+295_7116+297del)
 dbSNP
1g.158612522G>TCA2648555340SPTA1c.7134+295C>A (n.7134+295C>A)
c.7116+295C>A (n.7116+295C>A)
 gnomAD v4
1g.158612523T>GCA2648555341SPTA1c.7134+294A>C (n.7134+294A>C)
c.7116+294A>C (n.7116+294A>C)
 gnomAD v4
1g.158612525A>TCA2648555342SPTA1c.7134+292T>A (n.7134+292T>A)
c.7116+292T>A (n.7116+292T>A)
 gnomAD v4
1g.158612526G=CA1201536753SPTA1c.7134+291C= (n.7134+291C=)
c.7116+291C= (n.7116+291C=)
1g.158612526G>TCA1201536754SPTA1c.7134+291C>A (n.7134+291C>A)
c.7116+291C>A (n.7116+291C>A)
 dbSNP gnomAD v4
1g.158612527C>ACA1008228919SPTA1c.7134+290G>T (n.7134+290G>T)
c.7116+290G>T (n.7116+290G>T)
 gnomAD v3 gnomAD v4
1g.158612528A>CCA2648555343SPTA1c.7134+289T>G (n.7134+289T>G)
c.7116+289T>G (n.7116+289T>G)
 gnomAD v4
1g.158612529T>ACA1201536755SPTA1c.7134+288A>T (n.7134+288A>T)
c.7116+288A>T (n.7116+288A>T)
 dbSNP gnomAD v4
1g.158612529T=CA1201536756SPTA1c.7134+288A= (n.7134+288A=)
c.7116+288A= (n.7116+288A=)
1g.158612530T>ACA1201536758SPTA1c.7134+287A>T (n.7134+287A>T)
c.7116+287A>T (n.7116+287A>T)
 dbSNP
1g.158612530T=CA1201536757SPTA1c.7134+287A= (n.7134+287A=)
c.7116+287A= (n.7116+287A=)
1g.158612531C>ACA31250310SPTA1c.7134+286G>T (n.7134+286G>T)
c.7116+286G>T (n.7116+286G>T)
 dbSNP gnomAD v3 gnomAD v4
1g.158612531C=CA1201536759SPTA1c.7134+286G= (n.7134+286G=)
c.7116+286G= (n.7116+286G=)
1g.158612533A=CA1201536760SPTA1c.7134+284T= (n.7134+284T=)
c.7116+284T= (n.7116+284T=)
1g.158612533A>GCA1201536761SPTA1c.7134+284T>C (n.7134+284T>C)
c.7116+284T>C (n.7116+284T>C)
 dbSNP
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)

Number of alleles fetched