Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.158612490_158612535del | CA2648555325 | SPTA1 | c.7134+284_7134+329del (n.7134+284_7134+329del) c.7116+284_7116+329del (n.7116+284_7116+329del) | gnomAD v4 |
1 | g.158612488_158612489insTAA | CA2648555326 | OR10Z1,SPTA1 | c.*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 |
1 | g.158612489A>G | CA2697333950 | OR10Z1,SPTA1 | c.*5109A>G (n.*5109A>G) c.7134+328T>C (n.7134+328T>C) c.7116+328T>C (n.7116+328T>C) | dbSNP |
1 | g.158612490C>A | CA2648555327 | OR10Z1,SPTA1 | c.*5110C>A (n.*5110C>A) c.7134+327G>T (n.7134+327G>T) c.7116+327G>T (n.7116+327G>T) | gnomAD v4 |
1 | g.158612491T>A | CA2648555328 | OR10Z1,SPTA1 | c.*5111T>A (n.*5111T>A) c.7134+326A>T (n.7134+326A>T) c.7116+326A>T (n.7116+326A>T) | gnomAD v4 |
1 | g.158612491T>C | CA2648555329 | OR10Z1,SPTA1 | c.*5111T>C (n.*5111T>C) c.7134+326A>G (n.7134+326A>G) c.7116+326A>G (n.7116+326A>G) | gnomAD v4 |
1 | g.158612492A= | CA1201536738 | OR10Z1,SPTA1 | c.*5112A= (n.*5112A=) c.7134+325T= (n.7134+325T=) c.7116+325T= (n.7116+325T=) | |
1 | g.158612492A>G | CA1201536739 | OR10Z1,SPTA1 | c.*5112A>G (n.*5112A>G) c.7134+325T>C (n.7134+325T>C) c.7116+325T>C (n.7116+325T>C) | dbSNP gnomAD v4 |
1 | g.158612495G>T | CA646235462 | OR10Z1,SPTA1 | c.*5115G>T (n.*5115G>T) c.7134+322C>A (n.7134+322C>A) c.7116+322C>A (n.7116+322C>A) | COSMIC COSMIC |
1 | g.158612497T>G | CA2648555330 | OR10Z1,SPTA1 | c.*5117T>G (n.*5117T>G) c.7134+320A>C (n.7134+320A>C) c.7116+320A>C (n.7116+320A>C) | gnomAD v4 |
1 | g.158612498T>G | CA1008228899 | OR10Z1,SPTA1 | c.*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 |
1 | g.158612498T= | CA1201536740 | OR10Z1,SPTA1 | c.*5118T= (n.*5118T=) c.7134+319A= (n.7134+319A=) c.7116+319A= (n.7116+319A=) | |
1 | g.158612499G>A | CA2648555331 | OR10Z1,SPTA1 | c.*5119G>A (n.*5119G>A) c.7134+318C>T (n.7134+318C>T) c.7116+318C>T (n.7116+318C>T) | gnomAD v4 |
1 | g.158612499G>T | CA2648555332 | OR10Z1,SPTA1 | c.*5119G>T (n.*5119G>T) c.7134+318C>A (n.7134+318C>A) c.7116+318C>A (n.7116+318C>A) | gnomAD v4 |
1 | g.158612500C>A | CA1008228905 | OR10Z1,SPTA1 | c.*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 |
1 | g.158612500C= | CA1201536741 | OR10Z1,SPTA1 | c.*5120C= (n.*5120C=) c.7134+317G= (n.7134+317G=) c.7116+317G= (n.7116+317G=) | |
1 | g.158612500C>T | CA889965448 | OR10Z1,SPTA1 | c.*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 |
1 | g.158612502C>A | CA2648555333 | OR10Z1,SPTA1 | c.*5122C>A (n.*5122C>A) c.7134+315G>T (n.7134+315G>T) c.7116+315G>T (n.7116+315G>T) | gnomAD v4 |
1 | g.158612502C= | CA1201536742 | OR10Z1,SPTA1 | c.*5122C= (n.*5122C=) c.7134+315G= (n.7134+315G=) c.7116+315G= (n.7116+315G=) | |
1 | g.158612502C>T | CA1008228910 | OR10Z1,SPTA1 | c.*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 |
1 | g.158612503T>A | CA31250283 | OR10Z1,SPTA1 | c.*5123T>A (n.*5123T>A) c.7134+314A>T (n.7134+314A>T) c.7116+314A>T (n.7116+314A>T) | dbSNP |
1 | g.158612503T= | CA1201536743 | OR10Z1,SPTA1 | c.*5123T= (n.*5123T=) c.7134+314A= (n.7134+314A=) c.7116+314A= (n.7116+314A=) | |
1 | g.158612504C= | CA1201536744 | OR10Z1,SPTA1 | c.*5124C= (n.*5124C=) c.7134+313G= (n.7134+313G=) c.7116+313G= (n.7116+313G=) | |
1 | g.158612504C>T | CA31250290 | OR10Z1,SPTA1 | c.*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 |
1 | g.158612505C>A | CA2648555334 | OR10Z1,SPTA1 | c.*5125C>A (n.*5125C>A) c.7134+312G>T (n.7134+312G>T) c.7116+312G>T (n.7116+312G>T) | gnomAD v4 |
1 | g.158612505C= | CA1201536745 | OR10Z1,SPTA1 | c.*5125C= (n.*5125C=) c.7134+312G= (n.7134+312G=) c.7116+312G= (n.7116+312G=) | |
1 | g.158612505C>T | CA1201536746 | OR10Z1,SPTA1 | c.*5125C>T (n.*5125C>T) c.7134+312G>A (n.7134+312G>A) c.7116+312G>A (n.7116+312G>A) | dbSNP |
1 | g.158612507C>A | CA2648555335 | OR10Z1,SPTA1 | c.*5127C>A (n.*5127C>A) c.7134+310G>T (n.7134+310G>T) c.7116+310G>T (n.7116+310G>T) | gnomAD v4 |
1 | g.158612507C= | CA1144253472 | OR10Z1,SPTA1 | c.*5127C= (n.*5127C=) c.7134+310G= (n.7134+310G=) c.7116+310G= (n.7116+310G=) | |
1 | g.158612507C>T | CA31250293 | OR10Z1,SPTA1 | c.*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 |
1 | g.158612508A= | CA1201536747 | OR10Z1,SPTA1 | c.*5128A= (n.*5128A=) c.7134+309T= (n.7134+309T=) c.7116+309T= (n.7116+309T=) | |
1 | g.158612508A>G | CA31250300 | OR10Z1,SPTA1 | c.*5128A>G (n.*5128A>G) c.7134+309T>C (n.7134+309T>C) c.7116+309T>C (n.7116+309T>C) | dbSNP |
1 | g.158612510G= | CA1201536748 | OR10Z1,SPTA1 | c.*5130G= (n.*5130G=) c.7134+307C= (n.7134+307C=) c.7116+307C= (n.7116+307C=) | |
1 | g.158612510G>T | CA31250304 | OR10Z1,SPTA1 | c.*5130G>T (n.*5130G>T) c.7134+307C>A (n.7134+307C>A) c.7116+307C>A (n.7116+307C>A) | dbSNP gnomAD v4 |
1 | g.158612511C>A | CA2648555336 | OR10Z1,SPTA1 | c.*5131C>A (n.*5131C>A) c.7134+306G>T (n.7134+306G>T) c.7116+306G>T (n.7116+306G>T) | gnomAD v4 |
1 | g.158612511C>T | CA2697334022 | OR10Z1,SPTA1 | c.*5131C>T (n.*5131C>T) c.7134+306G>A (n.7134+306G>A) c.7116+306G>A (n.7116+306G>A) | dbSNP |
1 | g.158612512C= | CA1201536749 | OR10Z1,SPTA1 | c.*5132C= (n.*5132C=) c.7134+305G= (n.7134+305G=) c.7116+305G= (n.7116+305G=) | |
1 | g.158612512C>T | CA889965454 | OR10Z1,SPTA1 | c.*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 |
1 | g.158612513T>C | CA2648555337 | OR10Z1,SPTA1 | c.*5133T>C (n.*5133T>C) c.7134+304A>G (n.7134+304A>G) c.7116+304A>G (n.7116+304A>G) | gnomAD v4 |
1 | g.158612515G>T | CA2648555338 | SPTA1 | c.7134+302C>A (n.7134+302C>A) c.7116+302C>A (n.7116+302C>A) | gnomAD v4 |
1 | g.158612517A= | CA1201536750 | SPTA1 | c.7134+300T= (n.7134+300T=) c.7116+300T= (n.7116+300T=) | |
1 | g.158612517A>G | CA889965459 | SPTA1 | c.7134+300T>C (n.7134+300T>C) c.7116+300T>C (n.7116+300T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612517A>T | CA2746290204 | SPTA1 | c.7134+300T>A (n.7134+300T>A) c.7116+300T>A (n.7116+300T>A) | |
1 | g.158612518C>A | CA1008228918 | SPTA1 | c.7134+299G>T (n.7134+299G>T) c.7116+299G>T (n.7116+299G>T) | gnomAD v3 gnomAD v4 |
1 | g.158612519_158612522delinsATAG | CA1201536751 | SPTA1 | c.7134+295_7134+298delinsCTAT (n.7134+295_7134+298delinsCTAT) c.7116+295_7116+298delinsCTAT (n.7116+295_7116+298delinsCTAT) | |
1 | g.158612520T>C | CA31250306 | SPTA1 | c.7134+297A>G (n.7134+297A>G) c.7116+297A>G (n.7116+297A>G) | dbSNP gnomAD v4 |
1 | g.158612520T>G | CA2648555339 | SPTA1 | c.7134+297A>C (n.7134+297A>C) c.7116+297A>C (n.7116+297A>C) | gnomAD v4 |
1 | g.158612520T= | CA1201536752 | SPTA1 | c.7134+297A= (n.7134+297A=) c.7116+297A= (n.7116+297A=) | |
1 | g.158612522_158612524del | CA916320708 | SPTA1 | c.7134+295_7134+297del (n.7134+295_7134+297del) c.7116+295_7116+297del (n.7116+295_7116+297del) | dbSNP |
1 | g.158612522G>T | CA2648555340 | SPTA1 | c.7134+295C>A (n.7134+295C>A) c.7116+295C>A (n.7116+295C>A) | gnomAD v4 |
1 | g.158612523T>G | CA2648555341 | SPTA1 | c.7134+294A>C (n.7134+294A>C) c.7116+294A>C (n.7116+294A>C) | gnomAD v4 |
1 | g.158612525A>T | CA2648555342 | SPTA1 | c.7134+292T>A (n.7134+292T>A) c.7116+292T>A (n.7116+292T>A) | gnomAD v4 |
1 | g.158612526G= | CA1201536753 | SPTA1 | c.7134+291C= (n.7134+291C=) c.7116+291C= (n.7116+291C=) | |
1 | g.158612526G>T | CA1201536754 | SPTA1 | c.7134+291C>A (n.7134+291C>A) c.7116+291C>A (n.7116+291C>A) | dbSNP gnomAD v4 |
1 | g.158612527C>A | CA1008228919 | SPTA1 | c.7134+290G>T (n.7134+290G>T) c.7116+290G>T (n.7116+290G>T) | gnomAD v3 gnomAD v4 |
1 | g.158612528A>C | CA2648555343 | SPTA1 | c.7134+289T>G (n.7134+289T>G) c.7116+289T>G (n.7116+289T>G) | gnomAD v4 |
1 | g.158612529T>A | CA1201536755 | SPTA1 | c.7134+288A>T (n.7134+288A>T) c.7116+288A>T (n.7116+288A>T) | dbSNP gnomAD v4 |
1 | g.158612529T= | CA1201536756 | SPTA1 | c.7134+288A= (n.7134+288A=) c.7116+288A= (n.7116+288A=) | |
1 | g.158612530T>A | CA1201536758 | SPTA1 | c.7134+287A>T (n.7134+287A>T) c.7116+287A>T (n.7116+287A>T) | dbSNP |
1 | g.158612530T= | CA1201536757 | SPTA1 | c.7134+287A= (n.7134+287A=) c.7116+287A= (n.7116+287A=) | |
1 | g.158612531C>A | CA31250310 | SPTA1 | c.7134+286G>T (n.7134+286G>T) c.7116+286G>T (n.7116+286G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612531C= | CA1201536759 | SPTA1 | c.7134+286G= (n.7134+286G=) c.7116+286G= (n.7116+286G=) | |
1 | g.158612533A= | CA1201536760 | SPTA1 | c.7134+284T= (n.7134+284T=) c.7116+284T= (n.7116+284T=) | |
1 | g.158612533A>G | CA1201536761 | SPTA1 | c.7134+284T>C (n.7134+284T>C) c.7116+284T>C (n.7116+284T>C) | dbSNP |
1 | g.158612535A= | CA1201536762 | SPTA1 | c.7134+282T= (n.7134+282T=) c.7116+282T= (n.7116+282T=) | |
1 | g.158612535A>C | CA889965462 | SPTA1 | c.7134+282T>G (n.7134+282T>G) c.7116+282T>G (n.7116+282T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612537A>G | CA2648555344 | SPTA1 | c.7134+280T>C (n.7134+280T>C) c.7116+280T>C (n.7116+280T>C) | gnomAD v4 |
1 | g.158612539G= | CA1201536763 | SPTA1 | c.7134+278C= (n.7134+278C=) c.7116+278C= (n.7116+278C=) | |
1 | g.158612539G>T | CA31250311 | SPTA1 | c.7134+278C>A (n.7134+278C>A) c.7116+278C>A (n.7116+278C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612540C>A | CA2648555345 | SPTA1 | c.7134+277G>T (n.7134+277G>T) c.7116+277G>T (n.7116+277G>T) | gnomAD v4 |
1 | g.158612540C>T | CA2648555346 | SPTA1 | c.7134+277G>A (n.7134+277G>A) c.7116+277G>A (n.7116+277G>A) | gnomAD v4 |
1 | g.158612541T>C | CA31250315 | SPTA1 | c.7134+276A>G (n.7134+276A>G) c.7116+276A>G (n.7116+276A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.158612541T= | CA1147128473 | SPTA1 | c.7134+276A= (n.7134+276A=) c.7116+276A= (n.7116+276A=) | |
1 | g.158612542C>A | CA2648555347 | SPTA1 | c.7134+275G>T (n.7134+275G>T) c.7116+275G>T (n.7116+275G>T) | gnomAD v4 |
1 | g.158612542C= | CA1201536764 | SPTA1 | c.7134+275G= (n.7134+275G=) c.7116+275G= (n.7116+275G=) | |
1 | g.158612542C>G | CA2648555348 | SPTA1 | c.7134+275G>C (n.7134+275G>C) c.7116+275G>C (n.7116+275G>C) | gnomAD v4 |
1 | g.158612542C>T | CA913333159 | SPTA1 | c.7134+275G>A (n.7134+275G>A) c.7116+275G>A (n.7116+275G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.158612543T>C | CA1201536766 | SPTA1 | c.7134+274A>G (n.7134+274A>G) c.7116+274A>G (n.7116+274A>G) | dbSNP gnomAD v4 |
1 | g.158612543T= | CA1201536765 | SPTA1 | c.7134+274A= (n.7134+274A=) c.7116+274A= (n.7116+274A=) | |
1 | g.158612545del | CA2648555349 | SPTA1 | c.7134+274del (n.7134+274del) c.7116+274del (n.7116+274del) | gnomAD v4 |
1 | g.158612544T>C | CA1201536768 | SPTA1 | c.7134+273A>G (n.7134+273A>G) c.7116+273A>G (n.7116+273A>G) | dbSNP |
1 | g.158612544T>G | CA2648555350 | SPTA1 | c.7134+273A>C (n.7134+273A>C) c.7116+273A>C (n.7116+273A>C) | gnomAD v4 |
1 | g.158612544T= | CA1201536767 | SPTA1 | c.7134+273A= (n.7134+273A=) c.7116+273A= (n.7116+273A=) | |
1 | g.158612545T>A | CA2648555351 | SPTA1 | c.7134+272A>T (n.7134+272A>T) c.7116+272A>T (n.7116+272A>T) | gnomAD v4 |
1 | g.158612545T>C | CA2648555352 | SPTA1 | c.7134+272A>G (n.7134+272A>G) c.7116+272A>G (n.7116+272A>G) | gnomAD v4 |
1 | g.158612545T>G | CA2648555353 | SPTA1 | c.7134+272A>C (n.7134+272A>C) c.7116+272A>C (n.7116+272A>C) | gnomAD v4 |
1 | g.158612546G>A | CA1008228925 | SPTA1 | c.7134+271C>T (n.7134+271C>T) c.7116+271C>T (n.7116+271C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612546G>C | CA2648555354 | SPTA1 | c.7134+271C>G (n.7134+271C>G) c.7116+271C>G (n.7116+271C>G) | gnomAD v4 |
1 | g.158612546G= | CA1146132551 | SPTA1 | c.7134+271C= (n.7134+271C=) c.7116+271C= (n.7116+271C=) | |
1 | g.158612546G>T | CA31250326 | SPTA1 | c.7134+271C>A (n.7134+271C>A) c.7116+271C>A (n.7116+271C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.158612547A= | CA1201536769 | SPTA1 | c.7134+270T= (n.7134+270T=) c.7116+270T= (n.7116+270T=) | |
1 | g.158612547A>C | CA1201536770 | SPTA1 | c.7134+270T>G (n.7134+270T>G) c.7116+270T>G (n.7116+270T>G) | dbSNP gnomAD v4 |
1 | g.158612547A>G | CA2648555355 | SPTA1 | c.7134+270T>C (n.7134+270T>C) c.7116+270T>C (n.7116+270T>C) | gnomAD v4 |
1 | g.158612547A>T | CA2648555356 | SPTA1 | c.7134+270T>A (n.7134+270T>A) c.7116+270T>A (n.7116+270T>A) | gnomAD v4 |
1 | g.158612548A= | CA1201536771 | SPTA1 | c.7134+269T= (n.7134+269T=) c.7116+269T= (n.7116+269T=) | |
1 | g.158612548A>C | CA2648555357 | SPTA1 | c.7134+269T>G (n.7134+269T>G) c.7116+269T>G (n.7116+269T>G) | gnomAD v4 |
1 | g.158612548A>T | CA889965467 | SPTA1 | c.7134+269T>A (n.7134+269T>A) c.7116+269T>A (n.7116+269T>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612549T>A | CA1008228933 | SPTA1 | c.7134+268A>T (n.7134+268A>T) c.7116+268A>T (n.7116+268A>T) | gnomAD v3 gnomAD v4 |
1 | g.158612549T>C | CA2697334035 | SPTA1 | c.7134+268A>G (n.7134+268A>G) c.7116+268A>G (n.7116+268A>G) | dbSNP |
1 | g.158612549_158612550del | CA1008228930 | SPTA1 | c.7134+267_7134+268del (n.7134+267_7134+268del) c.7116+267_7116+268del (n.7116+267_7116+268del) | gnomAD v3 gnomAD v4 |
1 | g.158612550T>A | CA1008228935 | SPTA1 | c.7134+267A>T (n.7134+267A>T) c.7116+267A>T (n.7116+267A>T) | gnomAD v3 gnomAD v4 |
1 | g.158612551A>T | CA2648555358 | SPTA1 | c.7134+266T>A (n.7134+266T>A) c.7116+266T>A (n.7116+266T>A) | gnomAD v4 |
1 | g.158612552A>C | CA2648555359 | SPTA1 | c.7134+265T>G (n.7134+265T>G) c.7116+265T>G (n.7116+265T>G) | gnomAD v4 |
1 | g.158612552A>G | CA2648555360 | SPTA1 | c.7134+265T>C (n.7134+265T>C) c.7116+265T>C (n.7116+265T>C) | gnomAD v4 |
1 | g.158612552_158612557delinsATGAGG | CA1201536772 | SPTA1 | c.7134+260_7134+265delinsCCTCAT (n.7134+260_7134+265delinsCCTCAT) c.7116+260_7116+265delinsCCTCAT (n.7116+260_7116+265delinsCCTCAT) | |
1 | g.158612553T>A | CA526546851 | SPTA1 | c.7134+264A>T (n.7134+264A>T) c.7116+264A>T (n.7116+264A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.158612553T>C | CA2648555361 | SPTA1 | c.7134+264A>G (n.7134+264A>G) c.7116+264A>G (n.7116+264A>G) | gnomAD v4 |
1 | g.158612553T>G | CA2648555362 | SPTA1 | c.7134+264A>C (n.7134+264A>C) c.7116+264A>C (n.7116+264A>C) | gnomAD v4 |
1 | g.158612553T= | CA1201536773 | SPTA1 | c.7134+264A= (n.7134+264A=) c.7116+264A= (n.7116+264A=) | |
1 | g.158612553_158612557del | CA526546850 | SPTA1 | c.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 |
1 | g.158612554G>A | CA526546852 | SPTA1 | c.7134+263C>T (n.7134+263C>T) c.7116+263C>T (n.7116+263C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.158612554G= | CA1201536774 | SPTA1 | c.7134+263C= (n.7134+263C=) c.7116+263C= (n.7116+263C=) | |
1 | g.158612554G>T | CA2648555363 | SPTA1 | c.7134+263C>A (n.7134+263C>A) c.7116+263C>A (n.7116+263C>A) | gnomAD v4 |
1 | g.158612554_158612555insTGTA | CA2648555364 | SPTA1 | c.7134+262_7134+263insTACA (n.7134+262_7134+263insTACA) c.7116+262_7116+263insTACA (n.7116+262_7116+263insTACA) | gnomAD v4 |
1 | g.158612555A>G | CA2648555366 | SPTA1 | c.7134+262T>C (n.7134+262T>C) c.7116+262T>C (n.7116+262T>C) | gnomAD v4 |
1 | g.158612555A>T | CA2648555365 | SPTA1 | c.7134+262T>A (n.7134+262T>A) c.7116+262T>A (n.7116+262T>A) | gnomAD v4 |
1 | g.158612555_158612556delinsAG | CA1201536775 | SPTA1 | c.7134+261_7134+262delinsCT (n.7134+261_7134+262delinsCT) c.7116+261_7116+262delinsCT (n.7116+261_7116+262delinsCT) | |
1 | g.158612556G>A | CA526546853 | SPTA1 | c.7134+261C>T (n.7134+261C>T) c.7116+261C>T (n.7116+261C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.158612556G= | CA1201536776 | SPTA1 | c.7134+261C= (n.7134+261C=) c.7116+261C= (n.7116+261C=) | |
1 | g.158612556G>T | CA2648555367 | SPTA1 | c.7134+261C>A (n.7134+261C>A) c.7116+261C>A (n.7116+261C>A) | gnomAD v4 |
1 | g.158612556_158612557del | CA1008228940 | SPTA1 | c.7134+260_7134+261del (n.7134+260_7134+261del) c.7116+260_7116+261del (n.7116+260_7116+261del) | gnomAD v3 gnomAD v4 |
1 | g.158612557del | CA1201536777 | SPTA1 | c.7134+261del (n.7134+261del) c.7116+261del (n.7116+261del) | dbSNP gnomAD v4 |
1 | g.158612556_158612557insA | CA1201536778 | SPTA1 | c.7134+260_7134+261insT (n.7134+260_7134+261insT) c.7116+260_7116+261insT (n.7116+260_7116+261insT) | dbSNP |
1 | g.158612556_158612557insT | CA2568427610 | SPTA1 | c.7134+260_7134+261insA (n.7134+260_7134+261insA) c.7116+260_7116+261insA (n.7116+260_7116+261insA) | |
1 | g.158612556_158612557insAA | CA1008228946 | SPTA1 | c.7134+260_7134+261insTT (n.7134+260_7134+261insTT) c.7116+260_7116+261insTT (n.7116+260_7116+261insTT) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612556_158612557insCA | CA2746290211 | SPTA1 | c.7134+260_7134+261insTG (n.7134+260_7134+261insTG) c.7116+260_7116+261insTG (n.7116+260_7116+261insTG) | |
1 | g.158612556_158612557insAAA | CA526546854 | SPTA1 | c.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 |
1 | g.158612557G>A | CA526546855 | SPTA1 | c.7134+260C>T (n.7134+260C>T) c.7116+260C>T (n.7116+260C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.158612557G= | CA1201536780 | SPTA1 | c.7134+260C= (n.7134+260C=) c.7116+260C= (n.7116+260C=) | |
1 | g.158612557_158612558delinsGA | CA1201536779 | SPTA1 | c.7134+259_7134+260delinsTC (n.7134+259_7134+260delinsTC) c.7116+259_7116+260delinsTC (n.7116+259_7116+260delinsTC) | |
1 | g.158612557_158612558insGA | CA889965485 | SPTA1 | c.7134+259_7134+260insTC (n.7134+259_7134+260insTC) c.7116+259_7116+260insTC (n.7116+259_7116+260insTC) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612557_158612558insTA | CA1008228954 | SPTA1 | c.7134+259_7134+260insTA (n.7134+259_7134+260insTA) c.7116+259_7116+260insTA (n.7116+259_7116+260insTA) | gnomAD v3 gnomAD v4 |
1 | g.158612558A= | CA1147550834 | SPTA1 | c.7134+259T= (n.7134+259T=) c.7116+259T= (n.7116+259T=) | |
1 | g.158612558A>G | CA31250358 | SPTA1 | c.7134+259T>C (n.7134+259T>C) c.7116+259T>C (n.7116+259T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.158612558_158612559insCA | CA2648555370 | SPTA1 | c.7134+259_7134+260insGT (n.7134+259_7134+260insGT) c.7116+259_7116+260insGT (n.7116+259_7116+260insGT) | gnomAD v4 |
1 | g.158612558_158612559insCAA | CA2648555369 | SPTA1 | c.7134+259_7134+260insTGT (n.7134+259_7134+260insTGT) c.7116+259_7116+260insTGT (n.7116+259_7116+260insTGT) | gnomAD v4 |
1 | g.158612560_158612561insTAAA | CA2648555371 | SPTA1 | c.7134+259_7134+260insATTT (n.7134+259_7134+260insATTT) c.7116+259_7116+260insATTT (n.7116+259_7116+260insATTT) | gnomAD v4 |
1 | g.158612558_158612567delinsAAAAAAAAAA | CA1140535449 | SPTA1 | c.7134+250_7134+259delinsTTTTTTTTTT (n.7134+250_7134+259delinsTTTTTTTTTT) c.7116+250_7116+259delinsTTTTTTTTTT (n.7116+250_7116+259delinsTTTTTTTTTT) | |
1 | g.158612567_158612568insAAAAAAAAAAAA | CA1008228955 | SPTA1 | c.7134+259_7134+260insTTTTTTTTTTTT (n.7134+259_7134+260insTTTTTTTTTTTT) c.7116+259_7116+260insTTTTTTTTTTTT (n.7116+259_7116+260insTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
1 | g.158612567_158612568insAAAAAAATAAAAAAAAAAAAAAAAAAAA | CA916320709 | SPTA1 | c.7134+259_7134+260insTTTTTTTTTTATTTTTTTTTTTTTTTTT (n.7134+259_7134+260insTTTTTTTTTTATTTTTTTTTTTTTTTTT) c.7116+259_7116+260insTTTTTTTTTTATTTTTTTTTTTTTTTTT (n.7116+259_7116+260insTTTTTTTTTTATTTTTTTTTTTTTTTTT) | dbSNP |
1 | g.158612567dup | CA526546856 | SPTA1 | c.7134+259dup (n.7134+259dup) c.7116+259dup (n.7116+259dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.158612566_158612567dup | CA31250345 | SPTA1 | c.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 |
1 | g.158612565_158612567dup | CA31250354 | SPTA1 | c.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 |
1 | g.158612564_158612567dup | CA526546857 | SPTA1 | c.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 |
1 | g.158612563_158612567dup | CA1008228957 | SPTA1 | c.7134+255_7134+259dup (n.7134+255_7134+259dup) c.7116+255_7116+259dup (n.7116+255_7116+259dup) | gnomAD v3 gnomAD v4 |
1 | g.158612562_158612567dup | CA2648555373 | SPTA1 | c.7134+254_7134+259dup (n.7134+254_7134+259dup) c.7116+254_7116+259dup (n.7116+254_7116+259dup) | gnomAD v4 |
1 | g.158612561_158612567dup | CA1008228963 | SPTA1 | c.7134+253_7134+259dup (n.7134+253_7134+259dup) c.7116+253_7116+259dup (n.7116+253_7116+259dup) | gnomAD v3 gnomAD v4 |
1 | g.158612560_158612567dup | CA2648555372 | SPTA1 | c.7134+252_7134+259dup (n.7134+252_7134+259dup) c.7116+252_7116+259dup (n.7116+252_7116+259dup) | gnomAD v4 |
1 | g.158612559_158612567dup | CA2648555374 | SPTA1 | c.7134+251_7134+259dup (n.7134+251_7134+259dup) c.7116+251_7116+259dup (n.7116+251_7116+259dup) | gnomAD v4 |
1 | g.158612558_158612567dup | CA1008228956 | SPTA1 | c.7134+250_7134+259dup (n.7134+250_7134+259dup) c.7116+250_7116+259dup (n.7116+250_7116+259dup) | gnomAD v3 gnomAD v4 |
1 | g.158612567del | CA889965495 | SPTA1 | c.7134+259del (n.7134+259del) c.7116+259del (n.7116+259del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612566_158612567del | CA2648555368 | SPTA1 | c.7134+258_7134+259del (n.7134+258_7134+259del) c.7116+258_7116+259del (n.7116+258_7116+259del) | gnomAD v4 |
1 | g.158612568_158612718del | CA2746290216 | SPTA1 | c.7134+109_7134+259del (n.7134+109_7134+259del) c.7116+109_7116+259del (n.7116+109_7116+259del) | |
1 | g.158612559A= | CA1201536782 | SPTA1 | c.7134+258T= (n.7134+258T=) c.7116+258T= (n.7116+258T=) | |
1 | g.158612559A>G | CA1201536781 | SPTA1 | c.7134+258T>C (n.7134+258T>C) c.7116+258T>C (n.7116+258T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612559_158612560insGA | CA1201536783 | SPTA1 | c.7134+258_7134+259insCT (n.7134+258_7134+259insCT) c.7116+258_7116+259insCT (n.7116+258_7116+259insCT) | dbSNP |
1 | g.158612560_158612561insTAA | CA2648555375 | SPTA1 | c.7134+258_7134+259insATT (n.7134+258_7134+259insATT) c.7116+258_7116+259insATT (n.7116+258_7116+259insATT) | gnomAD v4 |
1 | g.158612561A= | CA1201536784 | SPTA1 | c.7134+256T= (n.7134+256T=) c.7116+256T= (n.7116+256T=) | |
1 | g.158612562A= | CA1201536785 | SPTA1 | c.7134+255T= (n.7134+255T=) c.7116+255T= (n.7116+255T=) | |
1 | g.158612562A>G | CA889965500 | SPTA1 | c.7134+255T>C (n.7134+255T>C) c.7116+255T>C (n.7116+255T>C) | dbSNP gnomAD v4 |
1 | g.158612562_158612563insTA | CA1008228965 | SPTA1 | c.7134+255_7134+256insAT (n.7134+255_7134+256insAT) c.7116+255_7116+256insAT (n.7116+255_7116+256insAT) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612563_158612564insTAA | CA889965498 | SPTA1 | c.7134+255_7134+256insATT (n.7134+255_7134+256insATT) c.7116+255_7116+256insATT (n.7116+255_7116+256insATT) | dbSNP |
1 | g.158612564_158612565insGAA | CA2648555376 | SPTA1 | c.7134+254_7134+255insCTT (n.7134+254_7134+255insCTT) c.7116+254_7116+255insCTT (n.7116+254_7116+255insCTT) | gnomAD v4 |
1 | g.158612564A>G | CA2648555377 | SPTA1 | c.7134+253T>C (n.7134+253T>C) c.7116+253T>C (n.7116+253T>C) | gnomAD v4 |
1 | g.158612564_158612565insGA | CA2746290219 | SPTA1 | c.7134+253_7134+254insCT (n.7134+253_7134+254insCT) c.7116+253_7116+254insCT (n.7116+253_7116+254insCT) | |
1 | g.158612568_158612569del | CA2648555378 | SPTA1 | c.7134+249_7134+250del (n.7134+249_7134+250del) c.7116+249_7116+250del (n.7116+249_7116+250del) | gnomAD v4 |
1 | g.158612567_158612568insAT | CA2648555381 | SPTA1 | c.7134+249_7134+250insAT (n.7134+249_7134+250insAT) c.7116+249_7116+250insAT (n.7116+249_7116+250insAT) | gnomAD v4 |
1 | g.158612567_158612568insAAT | CA2648555380 | SPTA1 | c.7134+249_7134+250insATT (n.7134+249_7134+250insATT) c.7116+249_7116+250insATT (n.7116+249_7116+250insATT) | gnomAD v4 |
1 | g.158612567_158612568insAAAT | CA2648555379 | SPTA1 | c.7134+249_7134+250insATTT (n.7134+249_7134+250insATTT) c.7116+249_7116+250insATTT (n.7116+249_7116+250insATTT) | gnomAD v4 |
1 | g.158612568del | CA2648555382 | SPTA1 | c.7134+249del (n.7134+249del) c.7116+249del (n.7116+249del) | gnomAD v4 |
1 | g.158612568G>A | CA646235463 | SPTA1 | c.7134+249C>T (n.7134+249C>T) c.7116+249C>T (n.7116+249C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612568G= | CA1201536786 | SPTA1 | c.7134+249C= (n.7134+249C=) c.7116+249C= (n.7116+249C=) | |
1 | g.158612568G>T | CA2648555383 | SPTA1 | c.7134+249C>A (n.7134+249C>A) c.7116+249C>A (n.7116+249C>A) | gnomAD v4 |
1 | g.158612568_158612572delinsGAAAT | CA1201536787 | SPTA1 | c.7134+245_7134+249delinsATTTC (n.7134+245_7134+249delinsATTTC) c.7116+245_7116+249delinsATTTC (n.7116+245_7116+249delinsATTTC) | |
1 | g.158612569A>C | CA2648555384 | SPTA1 | c.7134+248T>G (n.7134+248T>G) c.7116+248T>G (n.7116+248T>G) | gnomAD v4 |
1 | g.158612569A>T | CA2648555385 | SPTA1 | c.7134+248T>A (n.7134+248T>A) c.7116+248T>A (n.7116+248T>A) | gnomAD v4 |
1 | g.158612570_158612573del | CA1008228968 | SPTA1 | c.7134+245_7134+248del (n.7134+245_7134+248del) c.7116+245_7116+248del (n.7116+245_7116+248del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612570A= | CA1201536788 | SPTA1 | c.7134+247T= (n.7134+247T=) c.7116+247T= (n.7116+247T=) | |
1 | g.158612570A>G | CA1008228971 | SPTA1 | c.7134+247T>C (n.7134+247T>C) c.7116+247T>C (n.7116+247T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612571A>G | CA2648555386 | SPTA1 | c.7134+246T>C (n.7134+246T>C) c.7116+246T>C (n.7116+246T>C) | gnomAD v4 |
1 | g.158612572T>A | CA526546858 | SPTA1 | c.7134+245A>T (n.7134+245A>T) c.7116+245A>T (n.7116+245A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.158612572T>C | CA31250359 | SPTA1 | c.7134+245A>G (n.7134+245A>G) c.7116+245A>G (n.7116+245A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612572T>G | CA2648555388 | SPTA1 | c.7134+245A>C (n.7134+245A>C) c.7116+245A>C (n.7116+245A>C) | gnomAD v4 |
1 | g.158612572T= | CA1201536789 | SPTA1 | c.7134+245A= (n.7134+245A=) c.7116+245A= (n.7116+245A=) | |
1 | g.158612572_158612578del | CA2648555387 | SPTA1 | c.7134+239_7134+245del (n.7134+239_7134+245del) c.7116+239_7116+245del (n.7116+239_7116+245del) | gnomAD v4 |
1 | g.158612574_158612579del | CA2648555389 | SPTA1 | c.7134+240_7134+245del (n.7134+240_7134+245del) c.7116+240_7116+245del (n.7116+240_7116+245del) | gnomAD v4 |
1 | g.158612573A>G | CA2648555391 | SPTA1 | c.7134+244T>C (n.7134+244T>C) c.7116+244T>C (n.7116+244T>C) | gnomAD v4 |
1 | g.158612573A>T | CA2648555392 | SPTA1 | c.7134+244T>A (n.7134+244T>A) c.7116+244T>A (n.7116+244T>A) | gnomAD v4 |
1 | g.158612573_158612574insAAAA | CA2648555390 | SPTA1 | c.7134+244_7134+245insTTTT (n.7134+244_7134+245insTTTT) c.7116+244_7116+245insTTTT (n.7116+244_7116+245insTTTT) | gnomAD v4 |
1 | g.158612574G>A | CA2648555393 | SPTA1 | c.7134+243C>T (n.7134+243C>T) c.7116+243C>T (n.7116+243C>T) | gnomAD v4 |
1 | g.158612574G>C | CA1201536791 | SPTA1 | c.7134+243C>G (n.7134+243C>G) c.7116+243C>G (n.7116+243C>G) | dbSNP gnomAD v4 |
1 | g.158612574G= | CA1201536790 | SPTA1 | c.7134+243C= (n.7134+243C=) c.7116+243C= (n.7116+243C=) | |
1 | g.158612574G>T | CA2648555394 | SPTA1 | c.7134+243C>A (n.7134+243C>A) c.7116+243C>A (n.7116+243C>A) | gnomAD v4 |
1 | g.158612575C>A | CA1008228980 | SPTA1 | c.7134+242G>T (n.7134+242G>T) c.7116+242G>T (n.7116+242G>T) | gnomAD v3 gnomAD v4 |
1 | g.158612575C= | CA1201536793 | SPTA1 | c.7134+242G= (n.7134+242G=) c.7116+242G= (n.7116+242G=) | |
1 | g.158612575C>G | CA1201536792 | SPTA1 | c.7134+242G>C (n.7134+242G>C) c.7116+242G>C (n.7116+242G>C) | dbSNP gnomAD v4 |
1 | g.158612575C>T | CA2648555395 | SPTA1 | c.7134+242G>A (n.7134+242G>A) c.7116+242G>A (n.7116+242G>A) | gnomAD v4 |
1 | g.158612576C>A | CA1201536795 | SPTA1 | c.7134+241G>T (n.7134+241G>T) c.7116+241G>T (n.7116+241G>T) | dbSNP gnomAD v4 |
1 | g.158612576C= | CA1201536794 | SPTA1 | c.7134+241G= (n.7134+241G=) c.7116+241G= (n.7116+241G=) | |
1 | g.158612576C>T | CA1201536796 | SPTA1 | c.7134+241G>A (n.7134+241G>A) c.7116+241G>A (n.7116+241G>A) | dbSNP gnomAD v4 |
1 | g.158612577T>A | CA2648555396 | SPTA1 | c.7134+240A>T (n.7134+240A>T) c.7116+240A>T (n.7116+240A>T) | gnomAD v4 |
1 | g.158612578T>A | CA2648555397 | SPTA1 | c.7134+239A>T (n.7134+239A>T) c.7116+239A>T (n.7116+239A>T) | gnomAD v4 |
1 | g.158612583dup | CA2648555398 | SPTA1 | c.7134+238dup (n.7134+238dup) c.7116+238dup (n.7116+238dup) | gnomAD v4 |
1 | g.158612580A>G | CA2648555399 | SPTA1 | c.7134+237T>C (n.7134+237T>C) c.7116+237T>C (n.7116+237T>C) | gnomAD v4 |
1 | g.158612584C>A | CA2648555400 | SPTA1 | c.7134+233G>T (n.7134+233G>T) c.7116+233G>T (n.7116+233G>T) | gnomAD v4 |
1 | g.158612584C>G | CA2648555401 | SPTA1 | c.7134+233G>C (n.7134+233G>C) c.7116+233G>C (n.7116+233G>C) | gnomAD v4 |
1 | g.158612584C>T | CA2648555402 | SPTA1 | c.7134+233G>A (n.7134+233G>A) c.7116+233G>A (n.7116+233G>A) | gnomAD v4 |
1 | g.158612585T>C | CA1201536798 | SPTA1 | c.7134+232A>G (n.7134+232A>G) c.7116+232A>G (n.7116+232A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612585T>G | CA2648555403 | SPTA1 | c.7134+232A>C (n.7134+232A>C) c.7116+232A>C (n.7116+232A>C) | gnomAD v4 |
1 | g.158612585T= | CA1201536797 | SPTA1 | c.7134+232A= (n.7134+232A=) c.7116+232A= (n.7116+232A=) | |
1 | g.158612586G>A | CA2648555404 | SPTA1 | c.7134+231C>T (n.7134+231C>T) c.7116+231C>T (n.7116+231C>T) | gnomAD v4 |
1 | g.158612586G>C | CA1008228981 | SPTA1 | c.7134+231C>G (n.7134+231C>G) c.7116+231C>G (n.7116+231C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612586G= | CA1201536799 | SPTA1 | c.7134+231C= (n.7134+231C=) c.7116+231C= (n.7116+231C=) | |
1 | g.158612586G>T | CA2648555405 | SPTA1 | c.7134+231C>A (n.7134+231C>A) c.7116+231C>A (n.7116+231C>A) | gnomAD v4 |
1 | g.158612587A>G | CA2648555406 | SPTA1 | c.7134+230T>C (n.7134+230T>C) c.7116+230T>C (n.7116+230T>C) | gnomAD v4 |
1 | g.158612587A>T | CA2648555407 | SPTA1 | c.7134+230T>A (n.7134+230T>A) c.7116+230T>A (n.7116+230T>A) | gnomAD v4 |
1 | g.158612588G>A | CA2648555408 | SPTA1 | c.7134+229C>T (n.7134+229C>T) c.7116+229C>T (n.7116+229C>T) | gnomAD v4 |
1 | g.158612588G>T | CA2648555409 | SPTA1 | c.7134+229C>A (n.7134+229C>A) c.7116+229C>A (n.7116+229C>A) | gnomAD v4 |