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)
| |
3 | g.173019502A>C | CA355537575 | SPATA16 | c.832T>G (p.Tyr278Asp)
| |
3 | g.173019502A>G | CA355537576 | SPATA16 | c.832T>C (p.Tyr278His)
| gnomAD v4 COSMIC |
3 | g.173019502A>T | CA355537580 | SPATA16 | c.832T>A (p.Tyr278Asn)
| |
3 | g.173019502_173019516del | CA2572960796 | SPATA16 | c.818_832del (p.Arg273_Tyr278delinsAsn)
| |
3 | g.173019503C>A | CA355537581 | SPATA16 | c.831G>T (p.Arg277Ser)
| |
3 | g.173019503C>G | CA355537583 | SPATA16 | c.831G>C (p.Arg277Ser)
| |
3 | g.173019503C>T | CA436909318 | SPATA16 | c.831G>A (p.Arg277=)
| |
3 | g.173019504C>A | CA355537585 | SPATA16 | c.830G>T (p.Arg277Met)
| |
3 | g.173019504C>G | CA355537588 | SPATA16 | c.830G>C (p.Arg277Thr)
| |
3 | g.173019504C>T | CA355537587 | SPATA16 | c.830G>A (p.Arg277Lys)
| COSMIC |
3 | g.173019505T>A | CA355537590 | SPATA16 | c.829A>T (p.Arg277Trp)
| |
3 | g.173019505T>C | CA355537595 | SPATA16 | c.829A>G (p.Arg277Gly)
| |
3 | g.173019505T>G | CA436909319 | SPATA16 | c.829A>C (p.Arg277=)
| |
3 | g.173019506C>A | CA355537596 | SPATA16 | c.828G>T (p.Glu276Asp)
| |
3 | g.173019506C= | CA1420768737 | SPATA16 | c.828G= (p.Glu276=)
| |
3 | g.173019506C>G | CA355537598 | SPATA16 | c.828G>C (p.Glu276Asp)
| |
3 | g.173019506C>T | CA2708254 | SPATA16 | c.828G>A (p.Glu276=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.173019507T>A | CA355537599 | SPATA16 | c.827A>T (p.Glu276Val)
| |
3 | g.173019507T>C | CA355537600 | SPATA16 | c.827A>G (p.Glu276Gly)
| |
3 | g.173019507T>G | CA355537602 | SPATA16 | c.827A>C (p.Glu276Ala)
| |
3 | g.173019508C>A | CA355537604 | SPATA16 | c.826G>T (p.Glu276Ter)
| |
3 | g.173019508C>G | CA355537606 | SPATA16 | c.826G>C (p.Glu276Gln)
| gnomAD v4 |
3 | g.173019508C>T | CA355537607 | SPATA16 | c.826G>A (p.Glu276Lys)
| gnomAD v4 |
3 | g.173019509C>A | CA436909320 | SPATA16 | c.825G>T (p.Leu275=)
| |
3 | g.173019509C>G | CA436909322 | SPATA16 | c.825G>C (p.Leu275=)
| |
3 | g.173019509C>T | CA436909321 | SPATA16 | c.825G>A (p.Leu275=)
| |
3 | g.173019510A= | CA1420768738 | SPATA16 | c.824T= (p.Leu275=)
| |
3 | g.173019510A>C | CA355537610 | SPATA16 | c.824T>G (p.Leu275Arg)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.173019510A>G | CA355537609 | SPATA16 | c.824T>C (p.Leu275Pro)
| dbSNP |
3 | g.173019510A>T | CA355537608 | SPATA16 | c.824T>A (p.Leu275Gln)
| |
3 | g.173019511G>A | CA436909323 | SPATA16 | c.823C>T (p.Leu275=)
| |
3 | g.173019511G>C | CA355537611 | SPATA16 | c.823C>G (p.Leu275Val)
| gnomAD v4 |
3 | g.173019511G>T | CA355537612 | SPATA16 | c.823C>A (p.Leu275Met)
| |
3 | g.173019512A>C | CA355537616 | SPATA16 | c.822T>G (p.Cys274Trp)
| |
3 | g.173019512A>G | CA436909324 | SPATA16 | c.822T>C (p.Cys274=)
| |
3 | g.173019512A>T | CA355537620 | SPATA16 | c.822T>A (p.Cys274Ter)
| |
3 | g.173019513C>A | CA355537623 | SPATA16 | c.821G>T (p.Cys274Phe)
| |
3 | g.173019513C>G | CA355537624 | SPATA16 | c.821G>C (p.Cys274Ser)
| |
3 | g.173019513C>T | CA355537627 | SPATA16 | c.821G>A (p.Cys274Tyr)
| dbSNP gnomAD v4 |
3 | g.173019514A>C | CA355537630 | SPATA16 | c.820T>G (p.Cys274Gly)
| |
3 | g.173019514A>G | CA355537634 | SPATA16 | c.820T>C (p.Cys274Arg)
| |
3 | g.173019514A>T | CA355537637 | SPATA16 | c.820T>A (p.Cys274Ser)
| |
3 | g.173019515T>A | CA355537639 | SPATA16 | c.819A>T (p.Arg273Ser)
| |
3 | g.173019515T>C | CA436909325 | SPATA16 | c.819A>G (p.Arg273=)
| |
3 | g.173019515T>G | CA355537640 | SPATA16 | c.819A>C (p.Arg273Ser)
| |
3 | g.173019516C>A | CA355537644 | SPATA16 | c.818G>T (p.Arg273Ile)
| |
3 | g.173019516C>G | CA355537643 | SPATA16 | c.818G>C (p.Arg273Thr)
| |
3 | g.173019516C>T | CA355537642 | SPATA16 | c.818G>A (p.Arg273Lys)
| |
3 | g.173019517T>A | CA355537645 | SPATA16 | c.817A>T (p.Arg273Ter)
| |
3 | g.173019517T>C | CA355537647 | SPATA16 | c.817A>G (p.Arg273Gly)
| gnomAD v4 |
3 | g.173019517T>G | CA436909326 | SPATA16 | c.817A>C (p.Arg273=)
| |
3 | g.173019518A>C | CA355537649 | SPATA16 | c.816T>G (p.Phe272Leu)
| |
3 | g.173019518A>G | CA436909327 | SPATA16 | c.816T>C (p.Phe272=)
| gnomAD v4 |
3 | g.173019518A>T | CA355537651 | SPATA16 | c.816T>A (p.Phe272Leu)
| |
3 | g.173019519A>C | CA355537655 | SPATA16 | c.815T>G (p.Phe272Cys)
| gnomAD v4 |
3 | g.173019519A>G | CA355537656 | SPATA16 | c.815T>C (p.Phe272Ser)
| |
3 | g.173019519A>T | CA355537659 | SPATA16 | c.815T>A (p.Phe272Tyr)
| |
3 | g.173019519_173019524del | CA2531451883 | SPATA16 | c.810_815del (p.Val271_Phe272del)
| |
3 | g.173019520A>C | CA355537660 | SPATA16 | c.814T>G (p.Phe272Val)
| |
3 | g.173019520A>G | CA355537661 | SPATA16 | c.814T>C (p.Phe272Leu)
| COSMIC |
3 | g.173019520A>T | CA355537662 | SPATA16 | c.814T>A (p.Phe272Ile)
| |
3 | g.173019521C>A | CA436909328 | SPATA16 | c.813G>T (p.Val271=)
| |
3 | g.173019521C>G | CA436909329 | SPATA16 | c.813G>C (p.Val271=)
| |
3 | g.173019521C>T | CA436909330 | SPATA16 | c.813G>A (p.Val271=)
| gnomAD v4 |
3 | g.173019522A= | CA1420768739 | SPATA16 | c.812T= (p.Val271=)
| |
3 | g.173019522A>C | CA355537663 | SPATA16 | c.812T>G (p.Val271Gly)
| |
3 | g.173019522A>G | CA2708256 | SPATA16 | c.812T>C (p.Val271Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.173019522A>T | CA2708255 | SPATA16 | c.812T>A (p.Val271Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.173019523C>A | CA355537672 | SPATA16 | c.811G>T (p.Val271Leu)
| |
3 | g.173019523C= | CA1420768740 | SPATA16 | c.811G= (p.Val271=)
| |
3 | g.173019523C>G | CA355537669 | SPATA16 | c.811G>C (p.Val271Leu)
| |
3 | g.173019523C>T | CA88213103 | SPATA16 | c.811G>A (p.Val271Met)
| dbSNP COSMIC |
3 | g.173019524T>A | CA436909331 | SPATA16 | c.810A>T (p.Thr270=)
| |
3 | g.173019524T>C | CA436909333 | SPATA16 | c.810A>G (p.Thr270=)
| |
3 | g.173019524T>G | CA436909332 | SPATA16 | c.810A>C (p.Thr270=)
| |
3 | g.173019525G>A | CA88213104 | SPATA16 | c.809C>T (p.Thr270Ile)
| dbSNP |
3 | g.173019525G>C | CA355538531 | SPATA16 | c.809C>G (p.Thr270Arg)
| |
3 | g.173019525G= | CA1420768741 | SPATA16 | c.809C= (p.Thr270=)
| |
3 | g.173019525G>T | CA355538532 | SPATA16 | c.809C>A (p.Thr270Lys)
| |
3 | g.173019526T>A | CA355538539 | SPATA16 | c.808A>T (p.Thr270Ser)
| |
3 | g.173019526T>C | CA355538543 | SPATA16 | c.808A>G (p.Thr270Ala)
| dbSNP COSMIC |
3 | g.173019526T>G | CA355538554 | SPATA16 | c.808A>C (p.Thr270Pro)
| |
3 | g.173019526T= | CA1420768742 | SPATA16 | c.808A= (p.Thr270=)
| |