3 | g.173019401G>T | CA2668589013 | SPATA16 | c.848+85C>A (n.848+85C>A)
| gnomAD v4 |
3 | g.173019403G>T | CA2668589014 | SPATA16 | c.848+83C>A (n.848+83C>A)
| gnomAD v4 |
3 | g.173019405T>A | CA648250903 | SPATA16 | c.848+81A>T (n.848+81A>T)
| COSMIC |
3 | g.173019406_173019407del | CA2668589015 | SPATA16 | c.848+80_848+81del (n.848+80_848+81del)
| gnomAD v4 |
3 | g.173019407T>G | CA1420768682 | SPATA16 | c.848+79A>C (n.848+79A>C)
| dbSNP gnomAD v4 |
3 | g.173019407T= | CA1420768683 | SPATA16 | c.848+79A= (n.848+79A=)
| |
3 | g.173019408G>A | CA2668589016 | SPATA16 | c.848+78C>T (n.848+78C>T)
| gnomAD v4 |
3 | g.173019408G= | CA1420768684 | SPATA16 | c.848+78C= (n.848+78C=)
| |
3 | g.173019408G>T | CA88213095 | SPATA16 | c.848+78C>A (n.848+78C>A)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.173019409T>G | CA2668589017 | SPATA16 | c.848+77A>C (n.848+77A>C)
| gnomAD v4 |
3 | g.173019411A>G | CA2668589018 | SPATA16 | c.848+75T>C (n.848+75T>C)
| gnomAD v4 |
3 | g.173019412T>C | CA2668589019 | SPATA16 | c.848+74A>G (n.848+74A>G)
| gnomAD v4 |
3 | g.173019413G>A | CA2668589020 | SPATA16 | c.848+73C>T (n.848+73C>T)
| gnomAD v4 |
3 | g.173019413G>T | CA2577961584 | SPATA16 | c.848+73C>A (n.848+73C>A)
| gnomAD v4 |
3 | g.173019414C>T | CA2668589021 | SPATA16 | c.848+72G>A (n.848+72G>A)
| gnomAD v4 |
3 | g.173019416A= | CA1420768685 | SPATA16 | c.848+70T= (n.848+70T=)
| |
3 | g.173019416A>G | CA88213096 | SPATA16 | c.848+70T>C (n.848+70T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.173019418dup | CA2668589022 | SPATA16 | c.848+69dup (n.848+69dup)
| gnomAD v4 |
3 | g.173019418T>G | CA2668589023 | SPATA16 | c.848+68A>C (n.848+68A>C)
| gnomAD v4 |
3 | g.173019420C= | CA1420768686 | SPATA16 | c.848+66G= (n.848+66G=)
| |
3 | g.173019420_173019421insATAA | CA1420768687 | SPATA16 | c.848+65_848+66insTTAT (n.848+65_848+66insTTAT)
| dbSNP |
3 | g.173019421C>A | CA2759421951 | SPATA16 | c.848+65G>T (n.848+65G>T)
| |
3 | g.173019423G= | CA1420768688 | SPATA16 | c.848+63C= (n.848+63C=)
| |
3 | g.173019423G>T | CA88213097 | SPATA16 | c.848+63C>A (n.848+63C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.173019426T>C | CA2668589024 | SPATA16 | c.848+60A>G (n.848+60A>G)
| gnomAD v4 |
3 | g.173019426T>G | CA2565611289 | SPATA16 | c.848+60A>C (n.848+60A>C)
| |
3 | g.173019427T>A | CA2668589025 | SPATA16 | c.848+59A>T (n.848+59A>T)
| gnomAD v4 |
3 | g.173019427T>C | CA2555410465 | SPATA16 | c.848+59A>G (n.848+59A>G)
| |
3 | g.173019429G>A | CA2668589026 | SPATA16 | c.848+57C>T (n.848+57C>T)
| gnomAD v4 |
3 | g.173019429G>T | CA2577961585 | SPATA16 | c.848+57C>A (n.848+57C>A)
| gnomAD v4 |
3 | g.173019430A>G | CA2668589027 | SPATA16 | c.848+56T>C (n.848+56T>C)
| gnomAD v4 |
3 | g.173019431G>A | CA88213098 | SPATA16 | c.848+55C>T (n.848+55C>T)
| dbSNP |
3 | g.173019431G= | CA1420768689 | SPATA16 | c.848+55C= (n.848+55C=)
| |
3 | g.173019431G>T | CA2668589028 | SPATA16 | c.848+55C>A (n.848+55C>A)
| gnomAD v4 |
3 | g.173019432A= | CA1420768690 | SPATA16 | c.848+54T= (n.848+54T=)
| |
3 | g.173019432A>G | CA88213099 | SPATA16 | c.848+54T>C (n.848+54T>C)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.173019433A>C | CA2668589029 | SPATA16 | c.848+53T>G (n.848+53T>G)
| gnomAD v4 |
3 | g.173019433A>G | CA2668589030 | SPATA16 | c.848+53T>C (n.848+53T>C)
| gnomAD v4 |
3 | g.173019438A= | CA1420768691 | SPATA16 | c.848+48T= (n.848+48T=)
| |
3 | g.173019438A>G | CA1420768692 | SPATA16 | c.848+48T>C (n.848+48T>C)
| dbSNP |
3 | g.173019440T>G | CA1056444716 | SPATA16 | c.848+46A>C (n.848+46A>C)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.173019440T= | CA1420768693 | SPATA16 | c.848+46A= (n.848+46A=)
| |
3 | g.173019441A= | CA1420768694 | SPATA16 | c.848+45T= (n.848+45T=)
| |
3 | g.173019441A>C | CA1420768695 | SPATA16 | c.848+45T>G (n.848+45T>G)
| dbSNP |
3 | g.173019441A>G | CA2668589031 | SPATA16 | c.848+45T>C (n.848+45T>C)
| gnomAD v4 |
3 | g.173019441A>T | CA2577961586 | SPATA16 | c.848+45T>A (n.848+45T>A)
| |
3 | g.173019441_173019442del | CA2571549312 | SPATA16 | c.848+44_848+45del (n.848+44_848+45del)
| |
3 | g.173019442A= | CA1420768696 | SPATA16 | c.848+44T= (n.848+44T=)
| |
3 | g.173019442A>G | CA548088817 | SPATA16 | c.848+44T>C (n.848+44T>C)
| dbSNP gnomAD v2 gnomAD v4 |
3 | g.173019444T>C | CA2526154652 | SPATA16 | c.848+42A>G (n.848+42A>G)
| |
3 | g.173019446G>A | CA2517416134 | SPATA16 | c.848+40C>T (n.848+40C>T)
| dbSNP |
3 | g.173019446G>T | CA2668589032 | SPATA16 | c.848+40C>A (n.848+40C>A)
| gnomAD v4 |
3 | g.173019446_173019448del | CA2562423541 | SPATA16 | c.848+38_848+40del (n.848+38_848+40del)
| |
3 | g.173019447A= | CA1420768697 | SPATA16 | c.848+39T= (n.848+39T=)
| |
3 | g.173019447A>C | CA1420768698 | SPATA16 | c.848+39T>G (n.848+39T>G)
| dbSNP gnomAD v4 |
3 | g.173019448C= | CA1420768699 | SPATA16 | c.848+38G= (n.848+38G=)
| |
3 | g.173019448C>T | CA1056444721 | SPATA16 | c.848+38G>A (n.848+38G>A)
| dbSNP |
3 | g.173019449_173019450del | CA2668589033 | SPATA16 | c.848+36_848+37del (n.848+36_848+37del)
| gnomAD v4 |
3 | g.173019451G>A | CA2708246 | SPATA16 | c.848+35C>T (n.848+35C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.173019451G= | CA1420768700 | SPATA16 | c.848+35C= (n.848+35C=)
| |
3 | g.173019451G>T | CA2668589034 | SPATA16 | c.848+35C>A (n.848+35C>A)
| gnomAD v4 |
3 | g.173019452A= | CA1420768701 | SPATA16 | c.848+34T= (n.848+34T=)
| |
3 | g.173019452A>G | CA548088820 | SPATA16 | c.848+34T>C (n.848+34T>C)
| dbSNP gnomAD v2 gnomAD v4 |
3 | g.173019452A>T | CA2577961587 | SPATA16 | c.848+34T>A (n.848+34T>A)
| gnomAD v4 |
3 | g.173019453T>A | CA2519874962 | SPATA16 | c.848+33A>T (n.848+33A>T)
| |
3 | g.173019453T>C | CA548088821 | SPATA16 | c.848+33A>G (n.848+33A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.173019453T= | CA1420768702 | SPATA16 | c.848+33A= (n.848+33A=)
| |
3 | g.173019454A= | CA1420768703 | SPATA16 | c.848+32T= (n.848+32T=)
| |
3 | g.173019454A>C | CA2668589035 | SPATA16 | c.848+32T>G (n.848+32T>G)
| gnomAD v4 |
3 | g.173019454A>G | CA2708247 | SPATA16 | c.848+32T>C (n.848+32T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.173019455_173019457del | CA2519998032 | SPATA16 | c.848+30_848+32del (n.848+30_848+32del)
| |
3 | g.173019455T>C | CA88213100 | SPATA16 | c.848+31A>G (n.848+31A>G)
| dbSNP |
3 | g.173019455T= | CA1420768704 | SPATA16 | c.848+31A= (n.848+31A=)
| |
3 | g.173019458A= | CA1420768705 | SPATA16 | c.848+28T= (n.848+28T=)
| |
3 | g.173019458A>G | CA2708248 | SPATA16 | c.848+28T>C (n.848+28T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.173019459dup | CA2668589036 | SPATA16 | c.848+27dup (n.848+27dup)
| gnomAD v4 |
3 | g.173019460C>A | CA548088826 | SPATA16 | c.848+26G>T (n.848+26G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.173019460C= | CA1420768706 | SPATA16 | c.848+26G= (n.848+26G=)
| |
3 | g.173019460C>T | CA2668589037 | SPATA16 | c.848+26G>A (n.848+26G>A)
| gnomAD v4 |
3 | g.173019460_173019469del | CA2527154305 | SPATA16 | c.848+17_848+26del (n.848+17_848+26del)
| |
3 | g.173019461C>T | CA2530587573 | SPATA16 | c.848+25G>A (n.848+25G>A)
| |
3 | g.173019463C= | CA1420768707 | SPATA16 | c.848+23G= (n.848+23G=)
| |
3 | g.173019463C>T | CA1420768708 | SPATA16 | c.848+23G>A (n.848+23G>A)
| dbSNP gnomAD v4 |
3 | g.173019465C>G | CA2668589038 | SPATA16 | c.848+21G>C (n.848+21G>C)
| gnomAD v4 |
3 | g.173019465_173019466delinsCA | CA1420768709 | SPATA16 | c.848+20_848+21delinsTG (n.848+20_848+21delinsTG)
| |
3 | g.173019466A>G | CA2668589039 | SPATA16 | c.848+20T>C (n.848+20T>C)
| gnomAD v4 |
3 | g.173019469del | CA2708249 | SPATA16 | c.848+20del (n.848+20del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.173019467A= | CA1420768710 | SPATA16 | c.848+19T= (n.848+19T=)
| |
3 | g.173019467A>G | CA1420768711 | SPATA16 | c.848+19T>C (n.848+19T>C)
| dbSNP gnomAD v4 |
3 | g.173019470G>A | CA2759421952 | SPATA16 | c.848+16C>T (n.848+16C>T)
| |
3 | g.173019470G= | CA1420768713 | SPATA16 | c.848+16C= (n.848+16C=)
| |
3 | g.173019470G>T | CA1420768714 | SPATA16 | c.848+16C>A (n.848+16C>A)
| dbSNP |
3 | g.173019470_173019471delinsGT | CA1420768712 | SPATA16 | c.848+15_848+16delinsAC (n.848+15_848+16delinsAC)
| |
3 | g.173019472del | CA2708250 | SPATA16 | c.848+15del (n.848+15del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.173019471_173019476del | CA2567785043 | SPATA16 | c.848+10_848+15del (n.848+10_848+15del)
| |
3 | g.173019473A= | CA1420768715 | SPATA16 | c.848+13T= (n.848+13T=)
| |
3 | g.173019473A>T | CA548088833 | SPATA16 | c.848+13T>A (n.848+13T>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.173019476_173019480del | CA2577961588 | SPATA16 | c.848+9_848+13del (n.848+9_848+13del)
| |
3 | g.173019474A= | CA1420768716 | SPATA16 | c.848+12T= (n.848+12T=)
| |
3 | g.173019474A>G | CA902696461 | SPATA16 | c.848+12T>C (n.848+12T>C)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.173019474A>T | CA2532663415 | SPATA16 | c.848+12T>A (n.848+12T>A)
| |
3 | g.173019475A= | CA1420768717 | SPATA16 | c.848+11T= (n.848+11T=)
| |
3 | g.173019475A>C | CA1056444735 | SPATA16 | c.848+11T>G (n.848+11T>G)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.173019475A>G | CA88213101 | SPATA16 | c.848+11T>C (n.848+11T>C)
| dbSNP |
3 | g.173019476A= | CA1420768718 | SPATA16 | c.848+10T= (n.848+10T=)
| |
3 | g.173019476A>G | CA1420768719 | SPATA16 | c.848+10T>C (n.848+10T>C)
| dbSNP |
3 | g.173019477C= | CA1420768720 | SPATA16 | c.848+9G= (n.848+9G=)
| |
3 | g.173019477C>G | CA902696471 | SPATA16 | c.848+9G>C (n.848+9G>C)
| dbSNP gnomAD v4 |
3 | g.173019478A= | CA1420768721 | SPATA16 | c.848+8T= (n.848+8T=)
| |
3 | g.173019478A>C | CA548088835 | SPATA16 | c.848+8T>G (n.848+8T>G)
| dbSNP gnomAD v2 gnomAD v4 |
3 | g.173019478A>G | CA548088837 | SPATA16 | c.848+8T>C (n.848+8T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.173019480A= | CA1420768723 | SPATA16 | c.848+6T= (n.848+6T=)
| |
3 | g.173019480A>G | CA1420768722 | SPATA16 | c.848+6T>C (n.848+6T>C)
| dbSNP gnomAD v4 |
3 | g.173019480A>T | CA902696473 | SPATA16 | c.848+6T>A (n.848+6T>A)
| dbSNP |
3 | g.173019481C= | CA1420768724 | SPATA16 | c.848+5G= (n.848+5G=)
| |
3 | g.173019481C>T | CA1420768725 | SPATA16 | c.848+5G>A (n.848+5G>A)
| dbSNP |
3 | g.173019482_173019496del | CA2550602947 | SPATA16 | c.839_848+5del
| |
3 | g.173019482A>C | CA2668589040 | SPATA16 | c.848+4T>G (n.848+4T>G)
| gnomAD v4 |
3 | g.173019482A>G | CA2577961589 | SPATA16 | c.848+4T>C (n.848+4T>C)
| |
3 | g.173019483T>C | CA2577961590 | SPATA16 | c.848+3A>G (n.848+3A>G)
| gnomAD v4 |
3 | g.173019484del | CA2577961591 | SPATA16 | c.848+2del (n.848+2del)
| |
3 | g.173019484A= | CA1420768726 | SPATA16 | c.848+2T= (n.848+2T=)
| |
3 | g.173019484A>C | CA355537507 | SPATA16 | c.848+2T>G (n.848+2T>G)
| dbSNP |
3 | g.173019484A>G | CA355537503 | SPATA16 | c.848+2T>C (n.848+2T>C)
| gnomAD v4 |
3 | g.173019484A>T | CA355537504 | SPATA16 | c.848+2T>A (n.848+2T>A)
| |
3 | g.173019485C>A | CA2708251 | SPATA16 | c.848+1G>T (n.848+1G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.173019485C= | CA1420768727 | SPATA16 | c.848+1G= (n.848+1G=)
| |
3 | g.173019485C>G | CA355537509 | SPATA16 | c.848+1G>C (n.848+1G>C)
| |
3 | g.173019485C>T | CA355537510 | SPATA16 | c.848+1G>A (n.848+1G>A)
| gnomAD v4 |
3 | g.173019486C>A | CA355537511 | SPATA16 | c.848G>T (p.Arg283Leu)
| |
3 | g.173019486C= | CA1420768728 | SPATA16 | c.848G= (p.Arg283=)
| |
3 | g.173019486C>G | CA355537512 | SPATA16 | c.848G>C (p.Arg283Pro)
| |
3 | g.173019486C>T | CA114998 | SPATA16 | c.848G>A (p.Arg283Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.173019487G>A | CA88213102 | SPATA16 | c.847C>T (p.Arg283Trp)
| dbSNP gnomAD v2 gnomAD v4 |
3 | g.173019487G>C | CA355537514 | SPATA16 | c.847C>G (p.Arg283Gly)
| |
3 | g.173019487G= | CA1420768729 | SPATA16 | c.847C= (p.Arg283=)
| |
3 | g.173019487G>T | CA436909306 | SPATA16 | c.847C>A (p.Arg283=)
| |
3 | g.173019488G>A | CA436909309 | SPATA16 | c.846C>T (p.Ala282=)
| |
3 | g.173019488G>C | CA436909308 | SPATA16 | c.846C>G (p.Ala282=)
| |
3 | g.173019488G>T | CA436909307 | SPATA16 | c.846C>A (p.Ala282=)
| |
3 | g.173019489G>A | CA355537516 | SPATA16 | c.845C>T (p.Ala282Val)
| gnomAD v4 |
3 | g.173019489G>C | CA2708252 | SPATA16 | c.845C>G (p.Ala282Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.173019489G= | CA1420768730 | SPATA16 | c.845C= (p.Ala282=)
| |
3 | g.173019489G>T | CA355537519 | SPATA16 | c.845C>A (p.Ala282Asp)
| gnomAD v4 |
3 | g.173019490C>A | CA355537526 | SPATA16 | c.844G>T (p.Ala282Ser)
| |
3 | g.173019490C= | CA1420768731 | SPATA16 | c.844G= (p.Ala282=)
| |
3 | g.173019490C>G | CA355537524 | SPATA16 | c.844G>C (p.Ala282Pro)
| |
3 | g.173019490C>T | CA355537522 | SPATA16 | c.844G>A (p.Ala282Thr)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.173019491A>C | CA436909310 | SPATA16 | c.843T>G (p.Ala281=)
| gnomAD v4 |
3 | g.173019491A>G | CA436909311 | SPATA16 | c.843T>C (p.Ala281=)
| gnomAD v4 |
3 | g.173019491A>T | CA436909312 | SPATA16 | c.843T>A (p.Ala281=)
| |
3 | g.173019492G>A | CA355537529 | SPATA16 | c.842C>T (p.Ala281Val)
| dbSNP |
3 | g.173019492G>C | CA355537531 | SPATA16 | c.842C>G (p.Ala281Gly)
| gnomAD v4 |
3 | g.173019492G= | CA1420768732 | SPATA16 | c.842C= (p.Ala281=)
| |
3 | g.173019492G>T | CA355537532 | SPATA16 | c.842C>A (p.Ala281Asp)
| |
3 | g.173019493C>A | CA355537533 | SPATA16 | c.841G>T (p.Ala281Ser)
| |
3 | g.173019493C>G | CA355537534 | SPATA16 | c.841G>C (p.Ala281Pro)
| |
3 | g.173019493C>T | CA355537535 | SPATA16 | c.841G>A (p.Ala281Thr)
| |
3 | g.173019494C>A | CA355537537 | SPATA16 | c.840G>T (p.Glu280Asp)
| |
3 | g.173019494C>G | CA355537536 | SPATA16 | c.840G>C (p.Glu280Asp)
| |
3 | g.173019494C>T | CA436909313 | SPATA16 | c.840G>A (p.Glu280=)
| gnomAD v4 |
3 | g.173019495T>A | CA355537539 | SPATA16 | c.839A>T (p.Glu280Val)
| |
3 | g.173019495T>C | CA355537541 | SPATA16 | c.839A>G (p.Glu280Gly)
| |
3 | g.173019495T>G | CA355537543 | SPATA16 | c.839A>C (p.Glu280Ala)
| |
3 | g.173019496C>A | CA355537549 | SPATA16 | c.838G>T (p.Glu280Ter)
| |
3 | g.173019496C= | CA1420768733 | SPATA16 | c.838G= (p.Glu280=)
| |
3 | g.173019496C>G | CA355537551 | SPATA16 | c.838G>C (p.Glu280Gln)
| |
3 | g.173019496C>T | CA2708253 | SPATA16 | c.838G>A (p.Glu280Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.173019497T>A | CA436909314 | SPATA16 | c.837A>T (p.Ser279=)
| |
3 | g.173019497T>C | CA436909315 | SPATA16 | c.837A>G (p.Ser279=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.173019497T>G | CA436909316 | SPATA16 | c.837A>C (p.Ser279=)
| gnomAD v4 |
3 | g.173019497T= | CA1420768734 | SPATA16 | c.837A= (p.Ser279=)
| |
3 | g.173019498G>A | CA355537554 | SPATA16 | c.836C>T (p.Ser279Leu)
| |
3 | g.173019498G>C | CA355537558 | SPATA16 | c.836C>G (p.Ser279Ter)
| dbSNP |
3 | g.173019498G= | CA1420768735 | SPATA16 | c.836C= (p.Ser279=)
| |
3 | g.173019498G>T | CA355537556 | SPATA16 | c.836C>A (p.Ser279Ter)
| |
3 | g.173019499A>C | CA355537559 | SPATA16 | c.835T>G (p.Ser279Ala)
| |
3 | g.173019499A>G | CA355537560 | SPATA16 | c.835T>C (p.Ser279Pro)
| COSMIC |
3 | g.173019499A>T | CA355537562 | SPATA16 | c.835T>A (p.Ser279Thr)
| |
3 | g.173019500A= | CA1420768736 | SPATA16 | c.834T= (p.Tyr278=)
| |
3 | g.173019500A>C | CA355537564 | SPATA16 | c.834T>G (p.Tyr278Ter)
| |
3 | g.173019500A>G | CA436909317 | SPATA16 | c.834T>C (p.Tyr278=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.173019500A>T | CA355537566 | SPATA16 | c.834T>A (p.Tyr278Ter)
| |
3 | g.173019501T>A | CA355537567 | SPATA16 | c.833A>T (p.Tyr278Phe)
| |
3 | g.173019501T>C | CA355537570 | SPATA16 | c.833A>G (p.Tyr278Cys)
| |
3 | g.173019501T>G | CA355537572 | SPATA16 | c.833A>C (p.Tyr278Ser)
| |