22 | g.42066666C>T | CA2657021979 | NAGA | c.597+44G>A (n.597+44G>A)
| gnomAD v4 |
22 | g.42066668G>A | CA10263750 | NAGA | c.597+42C>T (n.597+42C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42066668G>C | CA324656061 | NAGA | c.597+42C>G (n.597+42C>G)
| dbSNP gnomAD v4 |
22 | g.42066668G= | CA2406550368 | NAGA | c.597+42C= (n.597+42C=)
| |
22 | g.42066668G>T | CA2657021980 | NAGA | c.597+42C>A (n.597+42C>A)
| gnomAD v4 |
22 | g.42066669G>A | CA2657021981 | NAGA | c.597+41C>T (n.597+41C>T)
| gnomAD v4 |
22 | g.42066669G>T | CA2657021982 | NAGA | c.597+41C>A (n.597+41C>A)
| gnomAD v4 |
22 | g.42066669_42066670insCACTCAG | CA639474810 | NAGA | c.597+41_597+42insTGAGTGC (n.597+41_597+42insTGAGTGC)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066670G>A | CA2657021983 | NAGA | c.597+40C>T (n.597+40C>T)
| gnomAD v4 |
22 | g.42066670G>T | CA2577736756 | NAGA | c.597+40C>A (n.597+40C>A)
| |
22 | g.42066671T>A | CA2577736757 | NAGA | c.597+39A>T (n.597+39A>T)
| |
22 | g.42066672G>A | CA639474811 | NAGA | c.597+38C>T (n.597+38C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066672G= | CA2406550369 | NAGA | c.597+38C= (n.597+38C=)
| |
22 | g.42066672G>T | CA2657021984 | NAGA | c.597+38C>A (n.597+38C>A)
| gnomAD v4 |
22 | g.42066674G>A | CA753287279 | NAGA | c.597+36C>T (n.597+36C>T)
| dbSNP |
22 | g.42066674G= | CA2406550370 | NAGA | c.597+36C= (n.597+36C=)
| |
22 | g.42066674G>T | CA2657021985 | NAGA | c.597+36C>A (n.597+36C>A)
| gnomAD v4 |
22 | g.42066675G>A | CA10263751 | NAGA | c.597+35C>T (n.597+35C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42066675G= | CA2406550371 | NAGA | c.597+35C= (n.597+35C=)
| |
22 | g.42066675G>T | CA2657021986 | NAGA | c.597+35C>A (n.597+35C>A)
| gnomAD v4 |
22 | g.42066676G>T | CA2657021987 | NAGA | c.597+34C>A (n.597+34C>A)
| gnomAD v4 |
22 | g.42066677A>T | CA2577736758 | NAGA | c.597+33T>A (n.597+33T>A)
| |
22 | g.42066678A>G | CA2657021988 | NAGA | c.597+32T>C (n.597+32T>C)
| gnomAD v4 |
22 | g.42066678A>T | CA2657021989 | NAGA | c.597+32T>A (n.597+32T>A)
| gnomAD v4 |
22 | g.42066679G>A | CA639474812 | NAGA | c.597+31C>T (n.597+31C>T)
| dbSNP gnomAD v2 |
22 | g.42066679G>C | CA324656067 | NAGA | c.597+31C>G (n.597+31C>G)
| dbSNP |
22 | g.42066679G= | CA2406550372 | NAGA | c.597+31C= (n.597+31C=)
| |
22 | g.42066679G>T | CA2577736759 | NAGA | c.597+31C>A (n.597+31C>A)
| |
22 | g.42066680C>A | CA2657021990 | NAGA | c.597+30G>T (n.597+30G>T)
| gnomAD v4 |
22 | g.42066680C= | CA2406550373 | NAGA | c.597+30G= (n.597+30G=)
| |
22 | g.42066680C>T | CA10263752 | NAGA | c.597+30G>A (n.597+30G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42066681G>A | CA10263753 | NAGA | c.597+29C>T (n.597+29C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066681G= | CA2406550374 | NAGA | c.597+29C= (n.597+29C=)
| |
22 | g.42066681G>T | CA10263754 | NAGA | c.597+29C>A (n.597+29C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42066682C>A | CA2657021991 | NAGA | c.597+28G>T (n.597+28G>T)
| gnomAD v4 |
22 | g.42066683C>A | CA2657021992 | NAGA | c.597+27G>T (n.597+27G>T)
| gnomAD v4 |
22 | g.42066683C>T | CA2657021993 | NAGA | c.597+27G>A (n.597+27G>A)
| gnomAD v4 |
22 | g.42066686C>A | CA2657021994 | NAGA | c.597+24G>T (n.597+24G>T)
| gnomAD v4 |
22 | g.42066686C= | CA2406550375 | NAGA | c.597+24G= (n.597+24G=)
| |
22 | g.42066686C>G | CA658121150 | NAGA | c.597+24G>C (n.597+24G>C)
| COSMIC |
22 | g.42066686C>T | CA639474813 | NAGA | c.597+24G>A (n.597+24G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066687A= | CA2406550376 | NAGA | c.597+23T= (n.597+23T=)
| |
22 | g.42066687A>C | CA10263755 | NAGA | c.597+23T>G (n.597+23T>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066687A>G | CA2657021995 | NAGA | c.597+23T>C (n.597+23T>C)
| gnomAD v4 |
22 | g.42066688G>A | CA10263756 | NAGA | c.597+22C>T (n.597+22C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066688G= | CA2406550377 | NAGA | c.597+22C= (n.597+22C=)
| |
22 | g.42066688G>T | CA2657021996 | NAGA | c.597+22C>A (n.597+22C>A)
| gnomAD v4 |
22 | g.42066689G>A | CA2657021997 | NAGA | c.597+21C>T (n.597+21C>T)
| gnomAD v4 |
22 | g.42066689G>T | CA2657021998 | NAGA | c.597+21C>A (n.597+21C>A)
| gnomAD v4 |
22 | g.42066690C>A | CA2657021999 | NAGA | c.597+20G>T (n.597+20G>T)
| gnomAD v4 |
22 | g.42066690C>T | CA2657022000 | NAGA | c.597+20G>A (n.597+20G>A)
| gnomAD v4 |
22 | g.42066691del | CA2577736760 | NAGA | c.597+19del (n.597+19del)
| |
22 | g.42066691A= | CA2406550378 | NAGA | c.597+19T= (n.597+19T=)
| |
22 | g.42066691A>T | CA639474814 | NAGA | c.597+19T>A (n.597+19T>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066692G>T | CA2657022001 | NAGA | c.597+18C>A (n.597+18C>A)
| gnomAD v4 |
22 | g.42066696dup | CA10263757 | NAGA | c.597+18dup (n.597+18dup)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066693G>A | CA2657022002 | NAGA | c.597+17C>T (n.597+17C>T)
| ClinVar gnomAD v4 |
22 | g.42066693G>C | CA10263758 | NAGA | c.597+17C>G (n.597+17C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42066693G= | CA2406550379 | NAGA | c.597+17C= (n.597+17C=)
| |
22 | g.42066693G>T | CA2657022003 | NAGA | c.597+17C>A (n.597+17C>A)
| gnomAD v4 |
22 | g.42066694G>A | CA324656111 | NAGA | c.597+16C>T (n.597+16C>T)
| dbSNP gnomAD v4 |
22 | g.42066694G= | CA2406550380 | NAGA | c.597+16C= (n.597+16C=)
| |
22 | g.42066694G>T | CA2577736761 | NAGA | c.597+16C>A (n.597+16C>A)
| gnomAD v4 |
22 | g.42066695G>A | CA2657022004 | NAGA | c.597+15C>T (n.597+15C>T)
| gnomAD v4 |
22 | g.42066695G>T | CA2577736762 | NAGA | c.597+15C>A (n.597+15C>A)
| gnomAD v4 |
22 | g.42066696G>A | CA639474815 | NAGA | c.597+14C>T (n.597+14C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066696G>C | CA2577736763 | NAGA | c.597+14C>G (n.597+14C>G)
| |
22 | g.42066696G= | CA2406550381 | NAGA | c.597+14C= (n.597+14C=)
| |
22 | g.42066696G>T | CA2657022005 | NAGA | c.597+14C>A (n.597+14C>A)
| gnomAD v4 |
22 | g.42066697C>A | CA2657022006 | NAGA | c.597+13G>T (n.597+13G>T)
| gnomAD v4 |
22 | g.42066697C= | CA2406550382 | NAGA | c.597+13G= (n.597+13G=)
| |
22 | g.42066697C>G | CA324656115 | NAGA | c.597+13G>C (n.597+13G>C)
| dbSNP |
22 | g.42066697C>T | CA2657022007 | NAGA | c.597+13G>A (n.597+13G>A)
| gnomAD v4 |
22 | g.42066698A>G | CA2657022008 | NAGA | c.597+12T>C (n.597+12T>C)
| gnomAD v4 |
22 | g.42066699G>A | CA10263759 | NAGA | c.597+11C>T (n.597+11C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066699G= | CA2406550383 | NAGA | c.597+11C= (n.597+11C=)
| |
22 | g.42066699G>T | CA2657022009 | NAGA | c.597+11C>A (n.597+11C>A)
| gnomAD v4 |
22 | g.42066701A= | CA2406550384 | NAGA | c.597+9T= (n.597+9T=)
| |
22 | g.42066701A>G | CA639474816 | NAGA | c.597+9T>C (n.597+9T>C)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.42066702T>G | CA639474817 | NAGA | c.597+8A>C (n.597+8A>C)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.42066702T= | CA2406550385 | NAGA | c.597+8A= (n.597+8A=)
| |
22 | g.42066703G>A | CA639474818 | NAGA | c.597+7C>T (n.597+7C>T)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.42066703G= | CA2406550386 | NAGA | c.597+7C= (n.597+7C=)
| |
22 | g.42066703G>T | CA2697552789 | NAGA | c.597+7C>A (n.597+7C>A)
| ClinVar |
22 | g.42066704del | CA2657022010 | NAGA | c.597+7del (n.597+7del)
| gnomAD v4 |
22 | g.42066704G>A | CA2657022012 | NAGA | c.597+6C>T (n.597+6C>T)
| gnomAD v4 |
22 | g.42066704G>T | CA2657022011 | NAGA | c.597+6C>A (n.597+6C>A)
| gnomAD v4 |
22 | g.42066705C>A | CA639474819 | NAGA | c.597+5G>T (n.597+5G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066705C= | CA2406550387 | NAGA | c.597+5G= (n.597+5G=)
| |
22 | g.42066708A= | CA2406550388 | NAGA | c.597+2T= (n.597+2T=)
| |
22 | g.42066708A>C | CA411768423 | NAGA | c.597+2T>G (n.597+2T>G)
| |
22 | g.42066708A>G | CA324656117 | NAGA | c.597+2T>C (n.597+2T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066708A>T | CA411768424 | NAGA | c.597+2T>A (n.597+2T>A)
| |
22 | g.42066709C>A | CA411768427 | NAGA | c.597+1G>T (n.597+1G>T)
| gnomAD v4 |
22 | g.42066709C>G | CA411768425 | NAGA | c.597+1G>C (n.597+1G>C)
| |
22 | g.42066709C>T | CA411768426 | NAGA | c.597+1G>A (n.597+1G>A)
| gnomAD v4 |
22 | g.42066710C>A | CA411768428 | NAGA | c.597G>T (p.Arg199Ser)
| |
22 | g.42066710C= | CA2406550389 | NAGA | c.597G= (p.Arg199=)
| |
22 | g.42066710C>G | CA411768429 | NAGA | c.597G>C (p.Arg199Ser)
| gnomAD v4 |
22 | g.42066710C>T | CA324656120 | NAGA | c.597G>A (p.Arg199=)
| dbSNP gnomAD v4 |
22 | g.42066711C>A | CA411768430 | NAGA | c.596G>T (p.Arg199Met)
| gnomAD v4 |
22 | g.42066711C= | CA2406550390 | NAGA | c.596G= (p.Arg199=)
| |
22 | g.42066711C>G | CA411768431 | NAGA | c.596G>C (p.Arg199Thr)
| |
22 | g.42066711C>T | CA411768432 | NAGA | c.596G>A (p.Arg199Lys)
| gnomAD v4 |
22 | g.42066712T>A | CA411768433 | NAGA | c.595A>T (p.Arg199Trp)
| |
22 | g.42066712T>C | CA10263761 | NAGA | c.595A>G (p.Arg199Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42066712T>G | CA10263760 | NAGA | c.595A>C (p.Arg199=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066712T= | CA2406550392 | NAGA | c.595A= (p.Arg199=)
| |
22 | g.42066713dup | CA2406550391 | NAGA | c.595dup (p.Arg199LysfsTer16)
| dbSNP gnomAD v4 |
22 | g.42066713T>A | CA514677675 | NAGA | c.594A>T (p.Pro198=)
| gnomAD v4 |
22 | g.42066713T>C | CA514677674 | NAGA | c.594A>G (p.Pro198=)
| |
22 | g.42066713T>G | CA514677673 | NAGA | c.594A>C (p.Pro198=)
| |
22 | g.42066713T= | CA2406550393 | NAGA | c.594A= (p.Pro198=)
| |
22 | g.42066714G>A | CA411768434 | NAGA | c.593C>T (p.Pro198Leu)
| gnomAD v4 |
22 | g.42066714G>C | CA10263762 | NAGA | c.593C>G (p.Pro198Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42066714G= | CA2406550394 | NAGA | c.593C= (p.Pro198=)
| |
22 | g.42066714G>T | CA411768435 | NAGA | c.593C>A (p.Pro198Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066719dup | CA514677678 | NAGA | c.593dup (p.Arg199LysfsTer16)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
22 | g.42066719del | CA514677677 | NAGA | c.593del (p.Pro198GlnfsTer3)
| gnomAD v4 COSMIC |
22 | g.42066715G>A | CA10263765 | NAGA | c.592C>T (p.Pro198Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066715G>C | CA10263764 | NAGA | c.592C>G (p.Pro198Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066715G= | CA2406550395 | NAGA | c.592C= (p.Pro198=)
| |
22 | g.42066715G>T | CA10263763 | NAGA | c.592C>A (p.Pro198Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066716G>A | CA10263766 | NAGA | c.591C>T (p.Pro197=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066716G>C | CA10263767 | NAGA | c.591C>G (p.Pro197=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066716G= | CA2406550396 | NAGA | c.591C= (p.Pro197=)
| |
22 | g.42066716G>T | CA10263768 | NAGA | c.591C>A (p.Pro197=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066717G>A | CA411768436 | NAGA | c.590C>T (p.Pro197Leu)
| gnomAD v4 |
22 | g.42066717G>C | CA411768437 | NAGA | c.590C>G (p.Pro197Arg)
| |
22 | g.42066717G= | CA2406550397 | NAGA | c.590C= (p.Pro197=)
| |
22 | g.42066717G>T | CA411768438 | NAGA | c.590C>A (p.Pro197His)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.42066718G>A | CA411768440 | NAGA | c.589C>T (p.Pro197Ser)
| gnomAD v4 |
22 | g.42066718G>C | CA411768441 | NAGA | c.589C>G (p.Pro197Ala)
| |
22 | g.42066718G>T | CA411768439 | NAGA | c.589C>A (p.Pro197Thr)
| gnomAD v4 |
22 | g.42066719G>A | CA514677690 | NAGA | c.588C>T (p.Leu196=)
| ClinVar dbSNP gnomAD v4 COSMIC |
22 | g.42066719G>C | CA514677688 | NAGA | c.588C>G (p.Leu196=)
| gnomAD v4 |
22 | g.42066719G= | CA2406550398 | NAGA | c.588C= (p.Leu196=)
| |
22 | g.42066719G>T | CA514677687 | NAGA | c.588C>A (p.Leu196=)
| |
22 | g.42066720A= | CA2406550399 | NAGA | c.587T= (p.Leu196=)
| |
22 | g.42066720A>C | CA411768442 | NAGA | c.587T>G (p.Leu196Arg)
| |
22 | g.42066720A>G | CA411768443 | NAGA | c.587T>C (p.Leu196Pro)
| dbSNP gnomAD v4 |
22 | g.42066720A>T | CA411768444 | NAGA | c.587T>A (p.Leu196His)
| |
22 | g.42066721G>A | CA411768445 | NAGA | c.586C>T (p.Leu196Phe)
| |
22 | g.42066721G>C | CA411768446 | NAGA | c.586C>G (p.Leu196Val)
| |
22 | g.42066721G= | CA2406550400 | NAGA | c.586C= (p.Leu196=)
| |
22 | g.42066721G>T | CA411768447 | NAGA | c.586C>A (p.Leu196Ile)
| dbSNP |
22 | g.42066722G>A | CA514677693 | NAGA | c.585C>T (p.Gly195=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.42066722G>C | CA514677692 | NAGA | c.585C>G (p.Gly195=)
| ClinVar gnomAD v4 |
22 | g.42066722G= | CA2406550401 | NAGA | c.585C= (p.Gly195=)
| |
22 | g.42066722G>T | CA324656125 | NAGA | c.585C>A (p.Gly195=)
| dbSNP |
22 | g.42066723C>A | CA411768448 | NAGA | c.584G>T (p.Gly195Val)
| |
22 | g.42066723C>G | CA411768450 | NAGA | c.584G>C (p.Gly195Ala)
| |
22 | g.42066723C>T | CA411768449 | NAGA | c.584G>A (p.Gly195Asp)
| gnomAD v4 |
22 | g.42066724C>A | CA411768451 | NAGA | c.583G>T (p.Gly195Cys)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.42066724C= | CA2406550402 | NAGA | c.583G= (p.Gly195=)
| |
22 | g.42066724C>G | CA411768452 | NAGA | c.583G>C (p.Gly195Arg)
| |
22 | g.42066724C>T | CA10263769 | NAGA | c.583G>A (p.Gly195Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42066725G>A | CA10263770 | NAGA | c.582C>T (p.Gly194=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.42066725G>C | CA514677696 | NAGA | c.582C>G (p.Gly194=)
| |
22 | g.42066725G= | CA2406550403 | NAGA | c.582C= (p.Gly194=)
| |
22 | g.42066725G>T | CA514677695 | NAGA | c.582C>A (p.Gly194=)
| gnomAD v4 |
22 | g.42066726C>A | CA411768453 | NAGA | c.581G>T (p.Gly194Val)
| |
22 | g.42066726C>G | CA411768455 | NAGA | c.581G>C (p.Gly194Ala)
| |
22 | g.42066726C>T | CA411768454 | NAGA | c.581G>A (p.Gly194Asp)
| gnomAD v4 |
22 | g.42066727C>A | CA411768456 | NAGA | c.580G>T (p.Gly194Cys)
| dbSNP |
22 | g.42066727C= | CA2406550404 | NAGA | c.580G= (p.Gly194=)
| |
22 | g.42066727C>G | CA411768458 | NAGA | c.580G>C (p.Gly194Arg)
| |
22 | g.42066727C>T | CA411768457 | NAGA | c.580G>A (p.Gly194Ser)
| |
22 | g.42066728T>A | CA411768459 | NAGA | c.579A>T (p.Glu193Asp)
| |
22 | g.42066728T>C | CA514677703 | NAGA | c.579A>G (p.Glu193=)
| |
22 | g.42066728T>G | CA411768460 | NAGA | c.579A>C (p.Glu193Asp)
| |
22 | g.42066729T>A | CA411768461 | NAGA | c.578A>T (p.Glu193Val)
| gnomAD v4 |
22 | g.42066729T>C | CA411768462 | NAGA | c.578A>G (p.Glu193Gly)
| |
22 | g.42066729T>G | CA411768463 | NAGA | c.578A>C (p.Glu193Ala)
| |
22 | g.42066730C>A | CA127850 | NAGA | c.577G>T (p.Glu193Ter)
| ClinVar dbSNP |
22 | g.42066730C= | CA2406550405 | NAGA | c.577G= (p.Glu193=)
| |
22 | g.42066730C>G | CA324656135 | NAGA | c.577G>C (p.Glu193Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066730C>T | CA411768464 | NAGA | c.577G>A (p.Glu193Lys)
| |
22 | g.42066731A= | CA2406550406 | NAGA | c.576T= (p.Tyr192=)
| |
22 | g.42066731A>C | CA411768465 | NAGA | c.576T>G (p.Tyr192Ter)
| gnomAD v4 |
22 | g.42066731A>G | CA514677708 | NAGA | c.576T>C (p.Tyr192=)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.42066731A>T | CA411768466 | NAGA | c.576T>A (p.Tyr192Ter)
| |
22 | g.42066732T>A | CA411768468 | NAGA | c.575A>T (p.Tyr192Phe)
| |
22 | g.42066732T>C | CA10263771 | NAGA | c.575A>G (p.Tyr192Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066732T>G | CA411768467 | NAGA | c.575A>C (p.Tyr192Ser)
| |
22 | g.42066732T= | CA2406550407 | NAGA | c.575A= (p.Tyr192=)
| |
22 | g.42066733A= | CA2406550408 | NAGA | c.574T= (p.Tyr192=)
| |
22 | g.42066733A>C | CA411768469 | NAGA | c.574T>G (p.Tyr192Asp)
| |
22 | g.42066733A>G | CA411768470 | NAGA | c.574T>C (p.Tyr192His)
| gnomAD v4 |
22 | g.42066733A>T | CA411768471 | NAGA | c.574T>A (p.Tyr192Asn)
| dbSNP |
22 | g.42066734G>A | CA514677715 | NAGA | c.573C>T (p.Ala191=)
| ClinVar dbSNP |
22 | g.42066734G>C | CA514677714 | NAGA | c.573C>G (p.Ala191=)
| |
22 | g.42066734G>T | CA514677713 | NAGA | c.573C>A (p.Ala191=)
| gnomAD v4 |
22 | g.42066735G>A | CA411768472 | NAGA | c.572C>T (p.Ala191Val)
| gnomAD v4 |
22 | g.42066735G>C | CA411768473 | NAGA | c.572C>G (p.Ala191Gly)
| gnomAD v4 |
22 | g.42066735G= | CA2406550409 | NAGA | c.572C= (p.Ala191=)
| |
22 | g.42066735G>T | CA10263772 | NAGA | c.572C>A (p.Ala191Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066736C>A | CA411768474 | NAGA | c.571G>T (p.Ala191Ser)
| gnomAD v4 |
22 | g.42066736C>G | CA411768475 | NAGA | c.571G>C (p.Ala191Pro)
| |
22 | g.42066736C>T | CA411768476 | NAGA | c.571G>A (p.Ala191Thr)
| |
22 | g.42066737T>A | CA514677719 | NAGA | c.570A>T (p.Pro190=)
| gnomAD v4 |
22 | g.42066737T>C | CA324656146 | NAGA | c.570A>G (p.Pro190=)
| dbSNP |
22 | g.42066737T>G | CA514677718 | NAGA | c.570A>C (p.Pro190=)
| |
22 | g.42066737T= | CA2406550410 | NAGA | c.570A= (p.Pro190=)
| |
22 | g.42066738G>A | CA411768477 | NAGA | c.569C>T (p.Pro190Leu)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.42066738G>C | CA411768478 | NAGA | c.569C>G (p.Pro190Arg)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.42066738G= | CA2406550411 | NAGA | c.569C= (p.Pro190=)
| |
22 | g.42066738G>T | CA411768479 | NAGA | c.569C>A (p.Pro190Gln)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.42066739G>A | CA411768481 | NAGA | c.568C>T (p.Pro190Ser)
| gnomAD v4 |
22 | g.42066739G>C | CA411768482 | NAGA | c.568C>G (p.Pro190Ala)
| |
22 | g.42066739G>T | CA411768480 | NAGA | c.568C>A (p.Pro190Thr)
| |
22 | g.42066740C>A | CA411768483 | NAGA | c.567G>T (p.Trp189Cys)
| gnomAD v4 COSMIC |
22 | g.42066740C= | CA2406550412 | NAGA | c.567G= (p.Trp189=)
| |
22 | g.42066740C>G | CA411768484 | NAGA | c.567G>C (p.Trp189Cys)
| |
22 | g.42066740C>T | CA324656158 | NAGA | c.567G>A (p.Trp189Ter)
| dbSNP gnomAD v4 |
22 | g.42066741C>A | CA411768485 | NAGA | c.566G>T (p.Trp189Leu)
| gnomAD v4 |
22 | g.42066741C>G | CA411768486 | NAGA | c.566G>C (p.Trp189Ser)
| |
22 | g.42066741C>T | CA411768487 | NAGA | c.566G>A (p.Trp189Ter)
| |
22 | g.42066742A>C | CA411768490 | NAGA | c.565T>G (p.Trp189Gly)
| |
22 | g.42066742A>G | CA411768488 | NAGA | c.565T>C (p.Trp189Arg)
| gnomAD v4 |
22 | g.42066742A>T | CA411768489 | NAGA | c.565T>A (p.Trp189Arg)
| |
22 | g.42066743G>A | CA514677721 | NAGA | c.564C>T (p.Ser188=)
| gnomAD v4 |
22 | g.42066743G>C | CA411768491 | NAGA | c.564C>G (p.Ser188Arg)
| |
22 | g.42066743G>T | CA411768492 | NAGA | c.564C>A (p.Ser188Arg)
| gnomAD v4 |
22 | g.42066744C>A | CA411768493 | NAGA | c.563G>T (p.Ser188Ile)
| gnomAD v4 |
22 | g.42066744C= | CA2406550413 | NAGA | c.563G= (p.Ser188=)
| |
22 | g.42066744C>G | CA411768494 | NAGA | c.563G>C (p.Ser188Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.42066744C>T | CA411768495 | NAGA | c.563G>A (p.Ser188Asn)
| gnomAD v4 |
22 | g.42066745T>A | CA411768496 | NAGA | c.562A>T (p.Ser188Cys)
| |
22 | g.42066745T>C | CA411768498 | NAGA | c.562A>G (p.Ser188Gly)
| |
22 | g.42066745T>G | CA411768497 | NAGA | c.562A>C (p.Ser188Arg)
| |
22 | g.42066746G>A | CA514677722 | NAGA | c.561C>T (p.Cys187=)
| gnomAD v4 |
22 | g.42066746G>C | CA411768499 | NAGA | c.561C>G (p.Cys187Trp)
| |
22 | g.42066746G>T | CA411768500 | NAGA | c.561C>A (p.Cys187Ter)
| gnomAD v4 |
22 | g.42066747C>A | CA411768501 | NAGA | c.560G>T (p.Cys187Phe)
| |
22 | g.42066747C>G | CA411768502 | NAGA | c.560G>C (p.Cys187Ser)
| |
22 | g.42066747C>T | CA411768503 | NAGA | c.560G>A (p.Cys187Tyr)
| gnomAD v4 |
22 | g.42066748A>C | CA411768504 | NAGA | c.559T>G (p.Cys187Gly)
| |
22 | g.42066748A>G | CA411768505 | NAGA | c.559T>C (p.Cys187Arg)
| |
22 | g.42066748A>T | CA411768506 | NAGA | c.559T>A (p.Cys187Ser)
| |
22 | g.42066750_42066752del | CA2657022013 | NAGA | c.557_559del (p.Ser186del)
| gnomAD v4 |
22 | g.42066749G>A | CA514677727 | NAGA | c.558C>T (p.Ser186=)
| |
22 | g.42066749G>C | CA514677726 | NAGA | c.558C>G (p.Ser186=)
| |
22 | g.42066749G>T | CA514677725 | NAGA | c.558C>A (p.Ser186=)
| |
22 | g.42066750G>A | CA411768507 | NAGA | c.557C>T (p.Ser186Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066750G>C | CA411768508 | NAGA | c.557C>G (p.Ser186Cys)
| |
22 | g.42066750G= | CA2406550414 | NAGA | c.557C= (p.Ser186=)
| |
22 | g.42066750G>T | CA411768509 | NAGA | c.557C>A (p.Ser186Tyr)
| gnomAD v4 |
22 | g.42066751A>C | CA411768510 | NAGA | c.556T>G (p.Ser186Ala)
| |
22 | g.42066751A>G | CA411768512 | NAGA | c.556T>C (p.Ser186Pro)
| |
22 | g.42066751A>T | CA411768511 | NAGA | c.556T>A (p.Ser186Thr)
| |
22 | g.42066752G>A | CA514677728 | NAGA | c.555C>T (p.Phe185=)
| |
22 | g.42066752G>C | CA411768513 | NAGA | c.555C>G (p.Phe185Leu)
| |
22 | g.42066752G>T | CA411768514 | NAGA | c.555C>A (p.Phe185Leu)
| |
22 | g.42066753A= | CA2406550415 | NAGA | c.554T= (p.Phe185=)
| |
22 | g.42066753A>C | CA411768515 | NAGA | c.554T>G (p.Phe185Cys)
| |
22 | g.42066753A>G | CA411768517 | NAGA | c.554T>C (p.Phe185Ser)
| |
22 | g.42066753A>T | CA411768516 | NAGA | c.554T>A (p.Phe185Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.42066754A>C | CA411768518 | NAGA | c.553T>G (p.Phe185Val)
| |
22 | g.42066754A>G | CA411768520 | NAGA | c.553T>C (p.Phe185Leu)
| |
22 | g.42066754A>T | CA411768519 | NAGA | c.553T>A (p.Phe185Ile)
| gnomAD v4 |
22 | g.42066754_42066761dup | CA2657022014 | NAGA | c.546_553dup (p.Phe185SerfsTer19)
| gnomAD v4 |
22 | g.42066755G>A | CA10263773 | NAGA | c.552C>T (p.Ala184=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42066755G>C | CA514677730 | NAGA | c.552C>G (p.Ala184=)
| |
22 | g.42066755G= | CA2406550416 | NAGA | c.552C= (p.Ala184=)
| |
22 | g.42066755G>T | CA514677729 | NAGA | c.552C>A (p.Ala184=)
| |
22 | g.42066756G>A | CA411768521 | NAGA | c.551C>T (p.Ala184Val)
| |
22 | g.42066756G>C | CA411768522 | NAGA | c.551C>G (p.Ala184Gly)
| |
22 | g.42066756G>T | CA411768523 | NAGA | c.551C>A (p.Ala184Asp)
| |
22 | g.42066757C>A | CA411768524 | NAGA | c.550G>T (p.Ala184Ser)
| |
22 | g.42066757C= | CA2406550417 | NAGA | c.550G= (p.Ala184=)
| |
22 | g.42066757C>G | CA411768525 | NAGA | c.550G>C (p.Ala184Pro)
| |
22 | g.42066757C>T | CA10263774 | NAGA | c.550G>A (p.Ala184Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066758G>A | CA10263775 | NAGA | c.549C>T (p.Ile183=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42066758G>C | CA411768526 | NAGA | c.549C>G (p.Ile183Met)
| |
22 | g.42066758G= | CA2406550418 | NAGA | c.549C= (p.Ile183=)
| |
22 | g.42066758G>T | CA514677732 | NAGA | c.549C>A (p.Ile183=)
| gnomAD v4 |
22 | g.42066759A>C | CA411768527 | NAGA | c.548T>G (p.Ile183Ser)
| |
22 | g.42066759A>G | CA411768528 | NAGA | c.548T>C (p.Ile183Thr)
| |
22 | g.42066759A>T | CA411768529 | NAGA | c.548T>A (p.Ile183Asn)
| |
22 | g.42066760T>A | CA411768530 | NAGA | c.547A>T (p.Ile183Phe)
| |
22 | g.42066760T>C | CA411768532 | NAGA | c.547A>G (p.Ile183Val)
| gnomAD v4 |
22 | g.42066760T>G | CA411768531 | NAGA | c.547A>C (p.Ile183Leu)
| |
22 | g.42066761G>A | CA514677736 | NAGA | c.546C>T (p.Pro182=)
| ClinVar dbSNP gnomAD v4 |
22 | g.42066761G>C | CA514677735 | NAGA | c.546C>G (p.Pro182=)
| |
22 | g.42066761G= | CA2406550419 | NAGA | c.546C= (p.Pro182=)
| |
22 | g.42066761G>T | CA514677734 | NAGA | c.546C>A (p.Pro182=)
| |
22 | g.42066763_42066764del | CA2577736764 | NAGA | c.545_546del (p.Pro182HisfsTer11)
| |
22 | g.42066762G>A | CA411768533 | NAGA | c.545C>T (p.Pro182Leu)
| dbSNP gnomAD v2 |
22 | g.42066762G>C | CA411768534 | NAGA | c.545C>G (p.Pro182Arg)
| gnomAD v4 |
22 | g.42066762G= | CA2406550420 | NAGA | c.545C= (p.Pro182=)
| |
22 | g.42066762G>T | CA411768535 | NAGA | c.545C>A (p.Pro182His)
| gnomAD v4 |
22 | g.42066763G>A | CA411768536 | NAGA | c.544C>T (p.Pro182Ser)
| gnomAD v4 |
22 | g.42066763G>C | CA411768537 | NAGA | c.544C>G (p.Pro182Ala)
| |
22 | g.42066763G>T | CA411768538 | NAGA | c.544C>A (p.Pro182Thr)
| gnomAD v4 |
22 | g.42066764G>A | CA514677740 | NAGA | c.543C>T (p.Arg181=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.42066764G>C | CA514677739 | NAGA | c.543C>G (p.Arg181=)
| |
22 | g.42066764G= | CA2406550421 | NAGA | c.543C= (p.Arg181=)
| |
22 | g.42066764G>T | CA514677738 | NAGA | c.543C>A (p.Arg181=)
| |
22 | g.42066765_42066766del | CA2577736765 | NAGA | c.542_543del (p.Arg181ProfsTer12)
| |
22 | g.42066765C>A | CA411768539 | NAGA | c.542G>T (p.Arg181Leu)
| gnomAD v4 |
22 | g.42066765C= | CA2406550422 | NAGA | c.542G= (p.Arg181=)
| |
22 | g.42066765C>G | CA411768540 | NAGA | c.542G>C (p.Arg181Pro)
| |
22 | g.42066765C>T | CA10263776 | NAGA | c.542G>A (p.Arg181His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.42066766G>A | CA10263777 | NAGA | c.541C>T (p.Arg181Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.42066766G>C | CA411768542 | NAGA | c.541C>G (p.Arg181Gly)
| |
22 | g.42066766G= | CA2406550423 | NAGA | c.541C= (p.Arg181=)
| |
22 | g.42066766G>T | CA411768541 | NAGA | c.541C>A (p.Arg181Ser)
| |