| 22 | g.42066794C>A | CA411768597 | NAGA | c.513G>T (p.Lys171Asn)
| gnomAD v4 |
| 22 | g.42066794C= | CA2406550435 | NAGA | c.513G= (p.Lys171=)
| |
| 22 | g.42066794C>G | CA411768598 | NAGA | c.513G>C (p.Lys171Asn)
| dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42066794C>T | CA514677783 | NAGA | c.513G>A (p.Lys171=)
| |
| 22 | g.42066795T>A | CA411768601 | NAGA | c.512A>T (p.Lys171Met)
| |
| 22 | g.42066795T>C | CA411768600 | NAGA | c.512A>G (p.Lys171Arg)
| gnomAD v4 |
| 22 | g.42066795T>G | CA411768599 | NAGA | c.512A>C (p.Lys171Thr)
| |
| 22 | g.42066796T>A | CA411768602 | NAGA | c.511A>T (p.Lys171Ter)
| |
| 22 | g.42066796T>C | CA411768603 | NAGA | c.511A>G (p.Lys171Glu)
| |
| 22 | g.42066796T>G | CA411768604 | NAGA | c.511A>C (p.Lys171Gln)
| |
| 22 | g.42066797G>A | CA514677786 | NAGA | c.510C>T (p.Pro170=)
| gnomAD v4 |
| 22 | g.42066797G>C | CA514677785 | NAGA | c.510C>G (p.Pro170=)
| |
| 22 | g.42066797G>T | CA514677784 | NAGA | c.510C>A (p.Pro170=)
| gnomAD v4 |
| 22 | g.42066800del | CA2657022016 | NAGA | c.510del (p.Lys171ArgfsTer6)
| gnomAD v4 |
| 22 | g.42066798G>A | CA411768605 | NAGA | c.509C>T (p.Pro170Leu)
| gnomAD v4 |
| 22 | g.42066798G>C | CA411768606 | NAGA | c.509C>G (p.Pro170Arg)
| |
| 22 | g.42066798G>T | CA411768607 | NAGA | c.509C>A (p.Pro170His)
| |
| 22 | g.42066799G>A | CA411768610 | NAGA | c.508C>T (p.Pro170Ser)
| |
| 22 | g.42066799G>C | CA411768608 | NAGA | c.508C>G (p.Pro170Ala)
| |
| 22 | g.42066799G= | CA2406550436 | NAGA | c.508C= (p.Pro170=)
| |
| 22 | g.42066799G>T | CA411768609 | NAGA | c.508C>A (p.Pro170Thr)
| dbSNP gnomAD v4 |
| 22 | g.42066800G>A | CA514677787 | NAGA | c.507C>T (p.Tyr169=)
| ClinVar dbSNP gnomAD v4 |
| 22 | g.42066800G>C | CA411768611 | NAGA | c.507C>G (p.Tyr169Ter)
| |
| 22 | g.42066800G= | CA2406550437 | NAGA | c.507C= (p.Tyr169=)
| |
| 22 | g.42066800G>T | CA411768612 | NAGA | c.507C>A (p.Tyr169Ter)
| gnomAD v4 |
| 22 | g.42066801T>A | CA411768613 | NAGA | c.506A>T (p.Tyr169Phe)
| |
| 22 | g.42066801T>C | CA324656194 | NAGA | c.506A>G (p.Tyr169Cys)
| dbSNP gnomAD v4 |
| 22 | g.42066801T>G | CA411768614 | NAGA | c.506A>C (p.Tyr169Ser)
| |
| 22 | g.42066801T= | CA2406550438 | NAGA | c.506A= (p.Tyr169=)
| |
| 22 | g.42066802A= | CA2406550439 | NAGA | c.505T= (p.Tyr169=)
| |
| 22 | g.42066802A>C | CA411768615 | NAGA | c.505T>G (p.Tyr169Asp)
| |
| 22 | g.42066802A>G | CA10263781 | NAGA | c.505T>C (p.Tyr169His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42066802A>T | CA411768616 | NAGA | c.505T>A (p.Tyr169Asn)
| |
| 22 | g.42066803C>A | CA514677790 | NAGA | c.504G>T (p.Gly168=)
| gnomAD v4 |
| 22 | g.42066803C= | CA2406550440 | NAGA | c.504G= (p.Gly168=)
| |
| 22 | g.42066803C>G | CA514677789 | NAGA | c.504G>C (p.Gly168=)
| |
| 22 | g.42066803C>T | CA514677788 | NAGA | c.504G>A (p.Gly168=)
| ClinVar dbSNP gnomAD v4 |
| 22 | g.42066804C>A | CA411768617 | NAGA | c.503G>T (p.Gly168Val)
| |
| 22 | g.42066804C>G | CA411768618 | NAGA | c.503G>C (p.Gly168Ala)
| |
| 22 | g.42066804C>T | CA411768619 | NAGA | c.503G>A (p.Gly168Glu)
| gnomAD v4 |
| 22 | g.42066805C>A | CA411768620 | NAGA | c.503-1G>T (n.503-1G>T)
| gnomAD v4 |
| 22 | g.42066805C>G | CA411768621 | NAGA | c.503-1G>C (n.503-1G>C)
| |
| 22 | g.42066805C>T | CA411768622 | NAGA | c.503-1G>A (n.503-1G>A)
| |
| 22 | g.42066806T>A | CA411768623 | NAGA | c.503-2A>T (n.503-2A>T)
| |
| 22 | g.42066806T>C | CA411768624 | NAGA | c.503-2A>G (n.503-2A>G)
| |
| 22 | g.42066806T>G | CA411768625 | NAGA | c.503-2A>C (n.503-2A>C)
| |
| 22 | g.42066808G>A | CA2657022017 | NAGA | c.503-4C>T (n.503-4C>T)
| gnomAD v4 |
| 22 | g.42066808G>T | CA2657022018 | NAGA | c.503-4C>A (n.503-4C>A)
| gnomAD v4 |
| 22 | g.42066810G>A | CA2657022019 | NAGA | c.503-6C>T (n.503-6C>T)
| gnomAD v4 |
| 22 | g.42066810G>C | CA2657022020 | NAGA | c.503-6C>G (n.503-6C>G)
| gnomAD v4 |
| 22 | g.42066811_42066812insTA | CA2657022021 | NAGA | c.503-7_503-6insAT (n.503-7_503-6insAT)
| gnomAD v4 |
| 22 | g.42066812A= | CA2406550441 | NAGA | c.503-8T= (n.503-8T=)
| |
| 22 | g.42066812A>G | CA1025909416 | NAGA | c.503-8T>C (n.503-8T>C)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42066814G>T | CA2657022022 | NAGA | c.503-10C>A (n.503-10C>A)
| gnomAD v4 |
| 22 | g.42066816C>A | CA2657022023 | NAGA | c.503-12G>T (n.503-12G>T)
| gnomAD v4 |
| 22 | g.42066816C= | CA2406550442 | NAGA | c.503-12G= (n.503-12G=)
| |
| 22 | g.42066816C>T | CA10263782 | NAGA | c.503-12G>A (n.503-12G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42066817C>A | CA2577736767 | NAGA | c.503-13G>T (n.503-13G>T)
| gnomAD v4 |
| 22 | g.42066817C>T | CA2657022024 | NAGA | c.503-13G>A (n.503-13G>A)
| gnomAD v4 |
| 22 | g.42066819A>G | CA2657022025 | NAGA | c.503-15T>C (n.503-15T>C)
| gnomAD v4 |
| 22 | g.42066821C>A | CA2657022026 | NAGA | c.503-17G>T (n.503-17G>T)
| gnomAD v4 |
| 22 | g.42066821C>G | CA658121152 | NAGA | c.503-17G>C (n.503-17G>C)
| gnomAD v4 COSMIC |
| 22 | g.42066822T>C | CA2657022027 | NAGA | c.503-18A>G (n.503-18A>G)
| gnomAD v4 |
| 22 | g.42066822T= | CA2406550443 | NAGA | c.503-18A= (n.503-18A=)
| |
| 22 | g.42066823G>A | CA639474829 | NAGA | c.503-19C>T (n.503-19C>T)
| dbSNP gnomAD v2 |
| 22 | g.42066823G>C | CA2657022028 | NAGA | c.503-19C>G (n.503-19C>G)
| gnomAD v4 |
| 22 | g.42066823G= | CA2406550444 | NAGA | c.503-19C= (n.503-19C=)
| |
| 22 | g.42066823G>T | CA2657022029 | NAGA | c.503-19C>A (n.503-19C>A)
| gnomAD v4 |
| 22 | g.42066824_42066837dup | CA1025909421 | NAGA | c.503-32_503-19dup (n.503-32_503-19dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42066825T>G | CA2657022030 | NAGA | c.503-21A>C (n.503-21A>C)
| gnomAD v4 |
| 22 | g.42066827C>A | CA2657022031 | NAGA | c.503-23G>T (n.503-23G>T)
| gnomAD v4 |
| 22 | g.42066828A= | CA2406550445 | NAGA | c.503-24T= (n.503-24T=)
| |
| 22 | g.42066828A>G | CA2406550446 | NAGA | c.503-24T>C (n.503-24T>C)
| dbSNP gnomAD v4 |
| 22 | g.42066828A>T | CA2657022032 | NAGA | c.503-24T>A (n.503-24T>A)
| gnomAD v4 |
| 22 | g.42066829G>A | CA2406550448 | NAGA | c.503-25C>T (n.503-25C>T)
| dbSNP gnomAD v4 |
| 22 | g.42066829G= | CA2406550447 | NAGA | c.503-25C= (n.503-25C=)
| |
| 22 | g.42066832C>A | CA2657022033 | NAGA | c.503-28G>T (n.503-28G>T)
| gnomAD v4 |
| 22 | g.42066833T>C | CA2657022034 | NAGA | c.503-29A>G (n.503-29A>G)
| gnomAD v4 |
| 22 | g.42066834G>A | CA639474830 | NAGA | c.503-30C>T (n.503-30C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42066834G= | CA2406550449 | NAGA | c.503-30C= (n.503-30C=)
| |
| 22 | g.42066834G>T | CA2657022035 | NAGA | c.503-30C>A (n.503-30C>A)
| gnomAD v4 |
| 22 | g.42066835A= | CA2406550450 | NAGA | c.503-31T= (n.503-31T=)
| |
| 22 | g.42066835A>C | CA639474831 | NAGA | c.503-31T>G (n.503-31T>G)
| dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42066835A>G | CA2657022036 | NAGA | c.503-31T>C (n.503-31T>C)
| gnomAD v4 |
| 22 | g.42066835A>T | CA2657022037 | NAGA | c.503-31T>A (n.503-31T>A)
| gnomAD v4 |
| 22 | g.42066835_42066836delinsAG | CA2406550451 | NAGA | c.503-32_503-31delinsCT (n.503-32_503-31delinsCT)
| |
| 22 | g.42066837del | CA753287516 | NAGA | c.503-32del (n.503-32del)
| dbSNP |
| 22 | g.42066837G>T | CA2577736768 | NAGA | c.503-33C>A (n.503-33C>A)
| |
| 22 | g.42066838A>G | CA2657022038 | NAGA | c.503-34T>C (n.503-34T>C)
| gnomAD v4 |
| 22 | g.42066839A>G | CA2657022039 | NAGA | c.503-35T>C (n.503-35T>C)
| gnomAD v4 |
| 22 | g.42066840G>A | CA2577736769 | NAGA | c.503-36C>T (n.503-36C>T)
| |
| 22 | g.42066842G>A | CA10263783 | NAGA | c.503-38C>T (n.503-38C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42066842G= | CA2406550452 | NAGA | c.503-38C= (n.503-38C=)
| |
| 22 | g.42066843C= | CA2406550453 | NAGA | c.503-39G= (n.503-39G=)
| |
| 22 | g.42066843C>G | CA10263784 | NAGA | c.503-39G>C (n.503-39G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42066843C>T | CA639474832 | NAGA | c.503-39G>A (n.503-39G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42066844A>C | CA2577736770 | NAGA | c.503-40T>G (n.503-40T>G)
| |
| 22 | g.42066845G>A | CA639474833 | NAGA | c.503-41C>T (n.503-41C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42066845G= | CA2406550454 | NAGA | c.503-41C= (n.503-41C=)
| |
| 22 | g.42066846G>A | CA639474834 | NAGA | c.503-42C>T (n.503-42C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42066846G>C | CA10263785 | NAGA | c.503-42C>G (n.503-42C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42066846G= | CA2406550455 | NAGA | c.503-42C= (n.503-42C=)
| |
| 22 | g.42066846G>T | CA2577736771 | NAGA | c.503-42C>A (n.503-42C>A)
| gnomAD v4 |
| 22 | g.42066847del | CA2657022040 | NAGA | c.503-43del (n.503-43del)
| gnomAD v4 |
| 22 | g.42066848G>A | CA2406550457 | NAGA | c.503-44C>T (n.503-44C>T)
| dbSNP gnomAD v4 |
| 22 | g.42066848G= | CA2406550456 | NAGA | c.503-44C= (n.503-44C=)
| |
| 22 | g.42066849G>C | CA2406550459 | NAGA | c.503-45C>G (n.503-45C>G)
| dbSNP gnomAD v4 |
| 22 | g.42066849G= | CA2406550458 | NAGA | c.503-45C= (n.503-45C=)
| |
| 22 | g.42066850C= | CA2406550460 | NAGA | c.503-46G= (n.503-46G=)
| |
| 22 | g.42066850C>T | CA10263786 | NAGA | c.503-46G>A (n.503-46G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42066852G>T | CA2577736772 | NAGA | c.503-48C>A (n.503-48C>A)
| gnomAD v4 |
| 22 | g.42066854C>A | CA10263787 | NAGA | c.503-50G>T (n.503-50G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42066854C= | CA2406550461 | NAGA | c.503-50G= (n.503-50G=)
| |
| 22 | g.42066854C>G | CA10263788 | NAGA | c.503-50G>C (n.503-50G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42066854C>T | CA1025909424 | NAGA | c.503-50G>A (n.503-50G>A)
| dbSNP |
| 22 | g.42066856G>A | CA10263789 | NAGA | c.503-52C>T (n.503-52C>T)
| dbSNP ExAC gnomAD v2 |
| 22 | g.42066856G= | CA2406550462 | NAGA | c.503-52C= (n.503-52C=)
| |
| 22 | g.42066856G>T | CA2657022042 | NAGA | c.503-52C>A (n.503-52C>A)
| gnomAD v4 |
| 22 | g.42066859del | CA2657022041 | NAGA | c.503-52del (n.503-52del)
| gnomAD v4 |
| 22 | g.42066858G>A | CA2657022043 | NAGA | c.503-54C>T (n.503-54C>T)
| gnomAD v4 |
| 22 | g.42066859G>A | CA324656227 | NAGA | c.503-55C>T (n.503-55C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42066859G= | CA2406550463 | NAGA | c.503-55C= (n.503-55C=)
| |
| 22 | g.42066859G>T | CA324656230 | NAGA | c.503-55C>A (n.503-55C>A)
| dbSNP gnomAD v4 |
| 22 | g.42066860C= | CA2406550464 | NAGA | c.503-56G= (n.503-56G=)
| |
| 22 | g.42066860C>T | CA753287532 | NAGA | c.503-56G>A (n.503-56G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42066861C>A | CA2657022044 | NAGA | c.503-57G>T (n.503-57G>T)
| gnomAD v4 |
| 22 | g.42066864A>G | CA2577736773 | NAGA | c.503-60T>C (n.503-60T>C)
| gnomAD v4 |
| 22 | g.42066867C>A | CA324656234 | NAGA | c.503-63G>T (n.503-63G>T)
| dbSNP |
| 22 | g.42066867C= | CA2406550465 | NAGA | c.503-63G= (n.503-63G=)
| |
| 22 | g.42066869del | CA2657022045 | NAGA | c.503-65del (n.503-65del)
| gnomAD v4 |
| 22 | g.42066869A>T | CA2577736774 | NAGA | c.503-65T>A (n.503-65T>A)
| |
| 22 | g.42066870G>T | CA2657022046 | NAGA | c.503-66C>A (n.503-66C>A)
| gnomAD v4 |
| 22 | g.42066871A>T | CA2577736775 | NAGA | c.503-67T>A (n.503-67T>A)
| |
| 22 | g.42066872C>A | CA324656241 | NAGA | c.503-68G>T (n.503-68G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42066872C= | CA2406550466 | NAGA | c.503-68G= (n.503-68G=)
| |
| 22 | g.42066872C>T | CA2657022047 | NAGA | c.503-68G>A (n.503-68G>A)
| gnomAD v4 |
| 22 | g.42066873C= | CA2406550467 | NAGA | c.503-69G= (n.503-69G=)
| |
| 22 | g.42066873C>T | CA2657022048 | NAGA | c.503-69G>A (n.503-69G>A)
| gnomAD v4 |
| 22 | g.42066874T>C | CA2577736776 | NAGA | c.503-70A>G (n.503-70A>G)
| gnomAD v4 |
| 22 | g.42066877dup | CA1025909431 | NAGA | c.503-70dup (n.503-70dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42066877del | CA2577736777 | NAGA | c.503-70del (n.503-70del)
| gnomAD v4 |
| 22 | g.42066875T>C | CA639474835 | NAGA | c.503-71A>G (n.503-71A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42066875T= | CA2406550468 | NAGA | c.503-71A= (n.503-71A=)
| |
| 22 | g.42066878C>A | CA2657022049 | NAGA | c.503-74G>T (n.503-74G>T)
| gnomAD v4 |
| 22 | g.42066880C>A | CA2657022050 | NAGA | c.503-76G>T (n.503-76G>T)
| gnomAD v4 |
| 22 | g.42066880C= | CA2406550469 | NAGA | c.503-76G= (n.503-76G=)
| |
| 22 | g.42066880C>T | CA639474836 | NAGA | c.503-76G>A (n.503-76G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42066882A>G | CA2657022051 | NAGA | c.503-78T>C (n.503-78T>C)
| gnomAD v4 |
| 22 | g.42066883C>T | CA2657022052 | NAGA | c.503-79G>A (n.503-79G>A)
| gnomAD v4 |
| 22 | g.42066885G>T | CA2657022053 | NAGA | c.503-81C>A (n.503-81C>A)
| gnomAD v4 |
| 22 | g.42066888G>A | CA2577736778 | NAGA | c.503-84C>T (n.503-84C>T)
| gnomAD v4 |
| 22 | g.42066888G>T | CA2657022054 | NAGA | c.503-84C>A (n.503-84C>A)
| gnomAD v4 |
| 22 | g.42066889T>C | CA2657022055 | NAGA | c.503-85A>G (n.503-85A>G)
| gnomAD v4 |
| 22 | g.42066890G>T | CA2657022056 | NAGA | c.503-86C>A (n.503-86C>A)
| gnomAD v4 |
