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.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 |
1 | g.158612589T>A | CA2648555410 | SPTA1 | c.7134+228A>T (n.7134+228A>T) c.7116+228A>T (n.7116+228A>T) | gnomAD v4 |
1 | g.158612589T>G | CA2605063732 | SPTA1 | c.7134+228A>C (n.7134+228A>C) c.7116+228A>C (n.7116+228A>C) | gnomAD v3 gnomAD v4 |
1 | g.158612590T>A | CA2746290225 | SPTA1 | c.7134+227A>T (n.7134+227A>T) c.7116+227A>T (n.7116+227A>T) | |
1 | g.158612591G>C | CA2648555411 | SPTA1 | c.7134+226C>G (n.7134+226C>G) c.7116+226C>G (n.7116+226C>G) | gnomAD v4 |
1 | g.158612591G>T | CA2648555412 | SPTA1 | c.7134+226C>A (n.7134+226C>A) c.7116+226C>A (n.7116+226C>A) | gnomAD v4 |
1 | g.158612592C>A | CA2648555413 | SPTA1 | c.7134+225G>T (n.7134+225G>T) c.7116+225G>T (n.7116+225G>T) | gnomAD v4 |
1 | g.158612592C= | CA1201536800 | SPTA1 | c.7134+225G= (n.7134+225G=) c.7116+225G= (n.7116+225G=) | |
1 | g.158612592C>G | CA2746290226 | SPTA1 | c.7134+225G>C (n.7134+225G>C) c.7116+225G>C (n.7116+225G>C) | |
1 | g.158612592C>T | CA31250362 | SPTA1 | c.7134+225G>A (n.7134+225G>A) c.7116+225G>A (n.7116+225G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612593A>G | CA2648555414 | SPTA1 | c.7134+224T>C (n.7134+224T>C) c.7116+224T>C (n.7116+224T>C) | gnomAD v4 |
1 | g.158612594G>A | CA2746290227 | SPTA1 | c.7134+223C>T (n.7134+223C>T) c.7116+223C>T (n.7116+223C>T) | |
1 | g.158612594G>T | CA2648555415 | SPTA1 | c.7134+223C>A (n.7134+223C>A) c.7116+223C>A (n.7116+223C>A) | gnomAD v4 |
1 | g.158612595A= | CA1201536801 | SPTA1 | c.7134+222T= (n.7134+222T=) c.7116+222T= (n.7116+222T=) | |
1 | g.158612595A>G | CA2746290228 | SPTA1 | c.7134+222T>C (n.7134+222T>C) c.7116+222T>C (n.7116+222T>C) | |
1 | g.158612595A>T | CA889965515 | SPTA1 | c.7134+222T>A (n.7134+222T>A) c.7116+222T>A (n.7116+222T>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612596T>G | CA2648555417 | SPTA1 | c.7134+221A>C (n.7134+221A>C) c.7116+221A>C (n.7116+221A>C) | gnomAD v4 |
1 | g.158612602_158612643del | CA2648555416 | SPTA1 | c.7134+180_7134+221del (n.7134+180_7134+221del) c.7116+180_7116+221del (n.7116+180_7116+221del) | gnomAD v4 |
1 | g.158612597T>A | CA2648555418 | SPTA1 | c.7134+220A>T (n.7134+220A>T) c.7116+220A>T (n.7116+220A>T) | gnomAD v4 |
1 | g.158612598T>C | CA2746290230 | SPTA1 | c.7134+219A>G (n.7134+219A>G) c.7116+219A>G (n.7116+219A>G) | |
1 | g.158612598T>G | CA2648555419 | SPTA1 | c.7134+219A>C (n.7134+219A>C) c.7116+219A>C (n.7116+219A>C) | gnomAD v4 |
1 | g.158612600G>A | CA2746290232 | SPTA1 | c.7134+217C>T (n.7134+217C>T) c.7116+217C>T (n.7116+217C>T) | |
1 | g.158612600G>C | CA2648555421 | SPTA1 | c.7134+217C>G (n.7134+217C>G) c.7116+217C>G (n.7116+217C>G) | gnomAD v4 |
1 | g.158612600G>T | CA2648555420 | SPTA1 | c.7134+217C>A (n.7134+217C>A) c.7116+217C>A (n.7116+217C>A) | gnomAD v4 |
1 | g.158612601A= | CA1201536802 | SPTA1 | c.7134+216T= (n.7134+216T=) c.7116+216T= (n.7116+216T=) | |
1 | g.158612601A>T | CA31250373 | SPTA1 | c.7134+216T>A (n.7134+216T>A) c.7116+216T>A (n.7116+216T>A) | dbSNP gnomAD v4 |
1 | g.158612601_158612621del | CA2746290234 | SPTA1 | c.7134+196_7134+216del (n.7134+196_7134+216del) c.7116+196_7116+216del (n.7116+196_7116+216del) | |
1 | g.158612602A>T | CA2648555422 | SPTA1 | c.7134+215T>A (n.7134+215T>A) c.7116+215T>A (n.7116+215T>A) | gnomAD v4 |
1 | g.158612603T>C | CA889965521 | SPTA1 | c.7134+214A>G (n.7134+214A>G) c.7116+214A>G (n.7116+214A>G) | dbSNP gnomAD v4 |
1 | g.158612603T>G | CA2648555423 | SPTA1 | c.7134+214A>C (n.7134+214A>C) c.7116+214A>C (n.7116+214A>C) | gnomAD v4 |
1 | g.158612603T= | CA1201536803 | SPTA1 | c.7134+214A= (n.7134+214A=) c.7116+214A= (n.7116+214A=) | |
1 | g.158612605G>A | CA2648555424 | SPTA1 | c.7134+212C>T (n.7134+212C>T) c.7116+212C>T (n.7116+212C>T) | gnomAD v4 |
1 | g.158612605G>T | CA2648555425 | SPTA1 | c.7134+212C>A (n.7134+212C>A) c.7116+212C>A (n.7116+212C>A) | gnomAD v4 |
1 | g.158612606_158612608delinsACT | CA1201536804 | SPTA1 | c.7134+209_7134+211delinsAGT (n.7134+209_7134+211delinsAGT) c.7116+209_7116+211delinsAGT (n.7116+209_7116+211delinsAGT) | |
1 | g.158612607C>A | CA2648555426 | SPTA1 | c.7134+210G>T (n.7134+210G>T) c.7116+210G>T (n.7116+210G>T) | gnomAD v4 |
1 | g.158612610_158612611del | CA31250377 | SPTA1 | c.7134+209_7134+210del (n.7134+209_7134+210del) c.7116+209_7116+210del (n.7116+209_7116+210del) | dbSNP |
1 | g.158612608T>A | CA2648555427 | SPTA1 | c.7134+209A>T (n.7134+209A>T) c.7116+209A>T (n.7116+209A>T) | gnomAD v4 |
1 | g.158612609C>A | CA2648555428 | SPTA1 | c.7134+208G>T (n.7134+208G>T) c.7116+208G>T (n.7116+208G>T) | gnomAD v4 |
1 | g.158612610T>A | CA2648555429 | SPTA1 | c.7134+207A>T (n.7134+207A>T) c.7116+207A>T (n.7116+207A>T) | gnomAD v4 |
1 | g.158612610T>C | CA889965532 | SPTA1 | c.7134+207A>G (n.7134+207A>G) c.7116+207A>G (n.7116+207A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612610T= | CA1201536805 | SPTA1 | c.7134+207A= (n.7134+207A=) c.7116+207A= (n.7116+207A=) | |
1 | g.158612611C>A | CA2648555430 | SPTA1 | c.7134+206G>T (n.7134+206G>T) c.7116+206G>T (n.7116+206G>T) | gnomAD v4 |
1 | g.158612611C>G | CA2648555431 | SPTA1 | c.7134+206G>C (n.7134+206G>C) c.7116+206G>C (n.7116+206G>C) | gnomAD v4 |
1 | g.158612611C>T | CA2648555432 | SPTA1 | c.7134+206G>A (n.7134+206G>A) c.7116+206G>A (n.7116+206G>A) | gnomAD v4 |
1 | g.158612612A>C | CA2648555433 | SPTA1 | c.7134+205T>G (n.7134+205T>G) c.7116+205T>G (n.7116+205T>G) | gnomAD v4 |
1 | g.158612612A>G | CA2648555435 | SPTA1 | c.7134+205T>C (n.7134+205T>C) c.7116+205T>C (n.7116+205T>C) | gnomAD v4 |
1 | g.158612612A>T | CA2648555434 | SPTA1 | c.7134+205T>A (n.7134+205T>A) c.7116+205T>A (n.7116+205T>A) | gnomAD v4 |
1 | g.158612613C>A | CA2648555436 | SPTA1 | c.7134+204G>T (n.7134+204G>T) c.7116+204G>T (n.7116+204G>T) | gnomAD v4 |
1 | g.158612613C= | CA1201536806 | SPTA1 | c.7134+204G= (n.7134+204G=) c.7116+204G= (n.7116+204G=) | |
1 | g.158612613C>G | CA2648555437 | SPTA1 | c.7134+204G>C (n.7134+204G>C) c.7116+204G>C (n.7116+204G>C) | gnomAD v4 |
1 | g.158612613C>T | CA1201536807 | SPTA1 | c.7134+204G>A (n.7134+204G>A) c.7116+204G>A (n.7116+204G>A) | dbSNP gnomAD v4 |
1 | g.158612614A>C | CA2648555438 | SPTA1 | c.7134+203T>G (n.7134+203T>G) c.7116+203T>G (n.7116+203T>G) | gnomAD v4 |
1 | g.158612614A>T | CA2648555439 | SPTA1 | c.7134+203T>A (n.7134+203T>A) c.7116+203T>A (n.7116+203T>A) | gnomAD v4 |
1 | g.158612615T>A | CA2648555440 | SPTA1 | c.7134+202A>T (n.7134+202A>T) c.7116+202A>T (n.7116+202A>T) | gnomAD v4 |
1 | g.158612615T>C | CA2648555441 | SPTA1 | c.7134+202A>G (n.7134+202A>G) c.7116+202A>G (n.7116+202A>G) | gnomAD v4 |
1 | g.158612615T>G | CA2648555442 | SPTA1 | c.7134+202A>C (n.7134+202A>C) c.7116+202A>C (n.7116+202A>C) | gnomAD v4 |
1 | g.158612616T>A | CA2648555443 | SPTA1 | c.7134+201A>T (n.7134+201A>T) c.7116+201A>T (n.7116+201A>T) | gnomAD v4 |
1 | g.158612616T>C | CA2648555444 | SPTA1 | c.7134+201A>G (n.7134+201A>G) c.7116+201A>G (n.7116+201A>G) | gnomAD v4 |
1 | g.158612616T>G | CA2648555445 | SPTA1 | c.7134+201A>C (n.7134+201A>C) c.7116+201A>C (n.7116+201A>C) | gnomAD v4 |
1 | g.158612617C>A | CA2648555448 | SPTA1 | c.7134+200G>T (n.7134+200G>T) c.7116+200G>T (n.7116+200G>T) | gnomAD v4 |
1 | g.158612617C>G | CA2648555447 | SPTA1 | c.7134+200G>C (n.7134+200G>C) c.7116+200G>C (n.7116+200G>C) | gnomAD v4 |
1 | g.158612617C>T | CA2648555446 | SPTA1 | c.7134+200G>A (n.7134+200G>A) c.7116+200G>A (n.7116+200G>A) | gnomAD v4 |
1 | g.158612618A>G | CA2648555449 | SPTA1 | c.7134+199T>C (n.7134+199T>C) c.7116+199T>C (n.7116+199T>C) | gnomAD v4 |
1 | g.158612618A>T | CA2648555450 | SPTA1 | c.7134+199T>A (n.7134+199T>A) c.7116+199T>A (n.7116+199T>A) | gnomAD v4 |
1 | g.158612619A>G | CA2648555451 | SPTA1 | c.7134+198T>C (n.7134+198T>C) c.7116+198T>C (n.7116+198T>C) | gnomAD v4 |
1 | g.158612619A>T | CA2648555452 | SPTA1 | c.7134+198T>A (n.7134+198T>A) c.7116+198T>A (n.7116+198T>A) | gnomAD v4 |
1 | g.158612620T>A | CA2648555453 | SPTA1 | c.7134+197A>T (n.7134+197A>T) c.7116+197A>T (n.7116+197A>T) | gnomAD v4 |
1 | g.158612620T>C | CA1201536809 | SPTA1 | c.7134+197A>G (n.7134+197A>G) c.7116+197A>G (n.7116+197A>G) | dbSNP gnomAD v4 |
1 | g.158612620T>G | CA2648555454 | SPTA1 | c.7134+197A>C (n.7134+197A>C) c.7116+197A>C (n.7116+197A>C) | gnomAD v4 |
1 | g.158612620T= | CA1201536808 | SPTA1 | c.7134+197A= (n.7134+197A=) c.7116+197A= (n.7116+197A=) | |
1 | g.158612621A>C | CA2648555455 | SPTA1 | c.7134+196T>G (n.7134+196T>G) c.7116+196T>G (n.7116+196T>G) | gnomAD v4 |
1 | g.158612621A>G | CA2531560807 | SPTA1 | c.7134+196T>C (n.7134+196T>C) c.7116+196T>C (n.7116+196T>C) | gnomAD v4 |
1 | g.158612621A>T | CA2648555456 | SPTA1 | c.7134+196T>A (n.7134+196T>A) c.7116+196T>A (n.7116+196T>A) | gnomAD v4 |
1 | g.158612622G>T | CA2648555457 | SPTA1 | c.7134+195C>A (n.7134+195C>A) c.7116+195C>A (n.7116+195C>A) | gnomAD v4 |
1 | g.158612623A>G | CA2648555459 | SPTA1 | c.7134+194T>C (n.7134+194T>C) c.7116+194T>C (n.7116+194T>C) | gnomAD v4 |
1 | g.158612624_158612626dup | CA2648555458 | SPTA1 | c.7134+192_7134+194dup (n.7134+192_7134+194dup) c.7116+192_7116+194dup (n.7116+192_7116+194dup) | gnomAD v4 |
1 | g.158612624G>A | CA2648555460 | SPTA1 | c.7134+193C>T (n.7134+193C>T) c.7116+193C>T (n.7116+193C>T) | gnomAD v4 |
1 | g.158612624G>C | CA889965535 | SPTA1 | c.7134+193C>G (n.7134+193C>G) c.7116+193C>G (n.7116+193C>G) | dbSNP |
1 | g.158612624G= | CA1201536810 | SPTA1 | c.7134+193C= (n.7134+193C=) c.7116+193C= (n.7116+193C=) | |
1 | g.158612624G>T | CA2648555461 | SPTA1 | c.7134+193C>A (n.7134+193C>A) c.7116+193C>A (n.7116+193C>A) | gnomAD v4 |
1 | g.158612625T>A | CA2648555462 | SPTA1 | c.7134+192A>T (n.7134+192A>T) c.7116+192A>T (n.7116+192A>T) | gnomAD v4 |
1 | g.158612625T>C | CA2648555464 | SPTA1 | c.7134+192A>G (n.7134+192A>G) c.7116+192A>G (n.7116+192A>G) | gnomAD v4 |
1 | g.158612625T>G | CA2648555463 | SPTA1 | c.7134+192A>C (n.7134+192A>C) c.7116+192A>C (n.7116+192A>C) | gnomAD v4 |
1 | g.158612626A>G | CA2648555465 | SPTA1 | c.7134+191T>C (n.7134+191T>C) c.7116+191T>C (n.7116+191T>C) | gnomAD v4 |
1 | g.158612626A>T | CA2648555466 | SPTA1 | c.7134+191T>A (n.7134+191T>A) c.7116+191T>A (n.7116+191T>A) | gnomAD v4 |
1 | g.158612627C>A | CA2648555467 | SPTA1 | c.7134+190G>T (n.7134+190G>T) c.7116+190G>T (n.7116+190G>T) | gnomAD v4 |
1 | g.158612627C= | CA1201536811 | SPTA1 | c.7134+190G= (n.7134+190G=) c.7116+190G= (n.7116+190G=) | |
1 | g.158612627C>G | CA2648555468 | SPTA1 | c.7134+190G>C (n.7134+190G>C) c.7116+190G>C (n.7116+190G>C) | gnomAD v4 |
1 | g.158612627C>T | CA889965536 | SPTA1 | c.7134+190G>A (n.7134+190G>A) c.7116+190G>A (n.7116+190G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612628C>A | CA2648555469 | SPTA1 | c.7134+189G>T (n.7134+189G>T) c.7116+189G>T (n.7116+189G>T) | gnomAD v4 |
1 | g.158612628C>G | CA2648555470 | SPTA1 | c.7134+189G>C (n.7134+189G>C) c.7116+189G>C (n.7116+189G>C) | gnomAD v4 |
1 | g.158612628C>T | CA2648555471 | SPTA1 | c.7134+189G>A (n.7134+189G>A) c.7116+189G>A (n.7116+189G>A) | gnomAD v4 |
1 | g.158612629A= | CA1145068888 | SPTA1 | c.7134+188T= (n.7134+188T=) c.7116+188T= (n.7116+188T=) | |
1 | g.158612629A>C | CA31250382 | SPTA1 | c.7134+188T>G (n.7134+188T>G) c.7116+188T>G (n.7116+188T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612629A>G | CA2648555472 | SPTA1 | c.7134+188T>C (n.7134+188T>C) c.7116+188T>C (n.7116+188T>C) | gnomAD v4 |
1 | g.158612629A>T | CA2648555473 | SPTA1 | c.7134+188T>A (n.7134+188T>A) c.7116+188T>A (n.7116+188T>A) | gnomAD v4 |
1 | g.158612630C>A | CA2648555474 | SPTA1 | c.7134+187G>T (n.7134+187G>T) c.7116+187G>T (n.7116+187G>T) | gnomAD v4 |
1 | g.158612630C= | CA1144532704 | SPTA1 | c.7134+187G= (n.7134+187G=) c.7116+187G= (n.7116+187G=) | |
1 | g.158612630C>G | CA2648555475 | SPTA1 | c.7134+187G>C (n.7134+187G>C) c.7116+187G>C (n.7116+187G>C) | gnomAD v4 |
1 | g.158612630C>T | CA31250387 | SPTA1 | c.7134+187G>A (n.7134+187G>A) c.7116+187G>A (n.7116+187G>A) | dbSNP gnomAD v4 |
1 | g.158612631A= | CA1201536812 | SPTA1 | c.7134+186T= (n.7134+186T=) c.7116+186T= (n.7116+186T=) | |
1 | g.158612631A>C | CA2648555477 | SPTA1 | c.7134+186T>G (n.7134+186T>G) c.7116+186T>G (n.7116+186T>G) | gnomAD v4 |
1 | g.158612631A>G | CA889965538 | SPTA1 | c.7134+186T>C (n.7134+186T>C) c.7116+186T>C (n.7116+186T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.158612631A>T | CA2648555476 | SPTA1 | c.7134+186T>A (n.7134+186T>A) c.7116+186T>A (n.7116+186T>A) | gnomAD v4 |
1 | g.158612632G>A | CA2648555478 | SPTA1 | c.7134+185C>T (n.7134+185C>T) c.7116+185C>T (n.7116+185C>T) | gnomAD v4 |
1 | g.158612632G= | CA1201536813 | SPTA1 | c.7134+185C= (n.7134+185C=) c.7116+185C= (n.7116+185C=) | |
1 | g.158612632G>T | CA889965542 | SPTA1 | c.7134+185C>A (n.7134+185C>A) c.7116+185C>A (n.7116+185C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612633T>A | CA2648555479 | SPTA1 | c.7134+184A>T (n.7134+184A>T) c.7116+184A>T (n.7116+184A>T) | gnomAD v4 |
1 | g.158612633T>C | CA889965544 | SPTA1 | c.7134+184A>G (n.7134+184A>G) c.7116+184A>G (n.7116+184A>G) | dbSNP |
1 | g.158612633T= | CA1201536814 | SPTA1 | c.7134+184A= (n.7134+184A=) c.7116+184A= (n.7116+184A=) | |
1 | g.158612634A>G | CA2648555480 | SPTA1 | c.7134+183T>C (n.7134+183T>C) c.7116+183T>C (n.7116+183T>C) | gnomAD v4 |
1 | g.158612634A>T | CA2648555481 | SPTA1 | c.7134+183T>A (n.7134+183T>A) c.7116+183T>A (n.7116+183T>A) | gnomAD v4 |
1 | g.158612635C>A | CA1201536816 | SPTA1 | c.7134+182G>T (n.7134+182G>T) c.7116+182G>T (n.7116+182G>T) | dbSNP gnomAD v4 |
1 | g.158612635C= | CA1201536815 | SPTA1 | c.7134+182G= (n.7134+182G=) c.7116+182G= (n.7116+182G=) | |
1 | g.158612635C>T | CA1201536817 | SPTA1 | c.7134+182G>A (n.7134+182G>A) c.7116+182G>A (n.7116+182G>A) | dbSNP gnomAD v4 |