Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2496222A= | CA2202259686 | TBC1D24 | c.74A= (p.Lys25=) n.256A= | |
16 | g.2496222A>C | CA394374399 | TBC1D24 | c.74A>C (p.Lys25Thr) n.256A>C | |
16 | g.2496222A>G | CA7843916 | TBC1D24 | c.74A>G (p.Lys25Arg) n.256A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496222A>T | CA394374400 | TBC1D24 | c.74A>T (p.Lys25Met) n.256A>T | |
16 | g.2496223G>A | CA493160320 | TBC1D24 | c.75G>A (p.Lys25=) n.257G>A | |
16 | g.2496223G>C | CA394374404 | TBC1D24 | c.75G>C (p.Lys25Asn) n.257G>C | |
16 | g.2496223G>T | CA394374406 | TBC1D24 | c.75G>T (p.Lys25Asn) n.257G>T | gnomAD v4 |
16 | g.2496224G>A | CA394374407 | TBC1D24 | c.76G>A (p.Glu26Lys) n.258G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496224G>C | CA394374408 | TBC1D24 | c.76G>C (p.Glu26Gln) n.258G>C | |
16 | g.2496224G= | CA2202259689 | TBC1D24 | c.76G= (p.Glu26=) n.258G= | |
16 | g.2496224G>T | CA7843917 | TBC1D24 | c.76G>T (p.Glu26Ter) n.258G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496224_2496225delinsGA | CA2202259688 | TBC1D24 | c.76_77delinsGA (p.Glu26=) n.258_259delinsGA | |
16 | g.2496224_2496225delinsTT | CA2202259687 | TBC1D24 | c.76_77delinsTT (p.Glu26Leu) n.258_259delinsTT | ClinVar dbSNP |
16 | g.2496225A= | CA2202259690 | TBC1D24 | c.77A= (p.Glu26=) n.259A= | |
16 | g.2496225A>C | CA394374411 | TBC1D24 | c.77A>C (p.Glu26Ala) n.259A>C | ClinVar |
16 | g.2496225A>G | CA394374413 | TBC1D24 | c.77A>G (p.Glu26Gly) n.259A>G | |
16 | g.2496225A>T | CA7843918 | TBC1D24 | c.77A>T (p.Glu26Val) n.259A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496226G>A | CA493160335 | TBC1D24 | c.78G>A (p.Glu26=) n.260G>A | |
16 | g.2496226G>C | CA394374419 | TBC1D24 | c.78G>C (p.Glu26Asp) n.260G>C | |
16 | g.2496226G>T | CA394374421 | TBC1D24 | c.78G>T (p.Glu26Asp) n.260G>T | |
16 | g.2496227C>A | CA394374423 | TBC1D24 | c.79C>A (p.Leu27Met) n.261C>A | |
16 | g.2496227C>G | CA394374424 | TBC1D24 | c.79C>G (p.Leu27Val) n.261C>G | |
16 | g.2496227C>T | CA493160342 | TBC1D24 | c.79C>T (p.Leu27=) n.261C>T | gnomAD v4 |
16 | g.2496228T>A | CA394374428 | TBC1D24 | c.80T>A (p.Leu27Gln) n.262T>A | |
16 | g.2496228T>C | CA394374429 | TBC1D24 | c.80T>C (p.Leu27Pro) n.262T>C | |
16 | g.2496228T>G | CA394374431 | TBC1D24 | c.80T>G (p.Leu27Arg) n.262T>G | |
16 | g.2496229G>A | CA493160347 | TBC1D24 | c.81G>A (p.Leu27=) n.263G>A | dbSNP |
16 | g.2496229G>C | CA493160350 | TBC1D24 | c.81G>C (p.Leu27=) n.263G>C | |
16 | g.2496229G= | CA2202259691 | TBC1D24 | c.81G= (p.Leu27=) n.263G= | |
16 | g.2496229G>T | CA493160353 | TBC1D24 | c.81G>T (p.Leu27=) n.263G>T | |
16 | g.2496230del | CA2631209014 | TBC1D24 | c.82del (p.Ser28AlafsTer8) n.264del | gnomAD v4 |
16 | g.2496230A>C | CA394374433 | TBC1D24 | c.82A>C (p.Ser28Arg) n.264A>C | |
16 | g.2496230A>G | CA394374438 | TBC1D24 | c.82A>G (p.Ser28Gly) n.264A>G | gnomAD v4 |
16 | g.2496230A>T | CA394374435 | TBC1D24 | c.82A>T (p.Ser28Cys) n.264A>T | |
16 | g.2496231G>A | CA394374441 | TBC1D24 | c.83G>A (p.Ser28Asn) n.265G>A | gnomAD v4 |
16 | g.2496231G>C | CA394374442 | TBC1D24 | c.83G>C (p.Ser28Thr) n.265G>C | |
16 | g.2496231G= | CA2202259692 | TBC1D24 | c.83G= (p.Ser28=) n.265G= | |
16 | g.2496231G>T | CA394374445 | TBC1D24 | c.83G>T (p.Ser28Ile) n.265G>T | dbSNP |
16 | g.2496232C>A | CA394374449 | TBC1D24 | c.84C>A (p.Ser28Arg) n.266C>A | |
16 | g.2496232C>G | CA394374450 | TBC1D24 | c.84C>G (p.Ser28Arg) n.266C>G | |
16 | g.2496232C>T | CA493160373 | TBC1D24 | c.84C>T (p.Ser28=) n.266C>T | |
16 | g.2496233T>A | CA394374453 | TBC1D24 | c.85T>A (p.Cys29Ser) n.267T>A | |
16 | g.2496233T>C | CA394374455 | TBC1D24 | c.85T>C (p.Cys29Arg) n.267T>C | gnomAD v4 |
16 | g.2496233T>G | CA394374456 | TBC1D24 | c.85T>G (p.Cys29Gly) n.267T>G | |
16 | g.2496234G>A | CA394374458 | TBC1D24 | c.86G>A (p.Cys29Tyr) n.268G>A | |
16 | g.2496234G>C | CA394374460 | TBC1D24 | c.86G>C (p.Cys29Ser) n.268G>C | |
16 | g.2496234G= | CA2202259693 | TBC1D24 | c.86G= (p.Cys29=) n.268G= | |
16 | g.2496234G>T | CA394374462 | TBC1D24 | c.86G>T (p.Cys29Phe) n.268G>T | ClinVar dbSNP |
16 | g.2496235C>A | CA394374464 | TBC1D24 | c.87C>A (p.Cys29Ter) n.269C>A | |
16 | g.2496235C= | CA2202259694 | TBC1D24 | c.87C= (p.Cys29=) n.269C= | |
16 | g.2496235C>G | CA394374467 | TBC1D24 | c.87C>G (p.Cys29Trp) n.269C>G | |
16 | g.2496235C>T | CA7843919 | TBC1D24 | c.87C>T (p.Cys29=) n.269C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496236A= | CA2202259695 | TBC1D24 | c.88A= (p.Thr30=) n.270A= | |
16 | g.2496236A>C | CA394374469 | TBC1D24 | c.88A>C (p.Thr30Pro) n.270A>C | |
16 | g.2496236A>G | CA394374471 | TBC1D24 | c.88A>G (p.Thr30Ala) n.270A>G | ClinVar dbSNP gnomAD v4 |
16 | g.2496236A>T | CA394374473 | TBC1D24 | c.88A>T (p.Thr30Ser) n.270A>T | |
16 | g.2496237C>A | CA394374475 | TBC1D24 | c.89C>A (p.Thr30Asn) n.271C>A | |
16 | g.2496237C= | CA2202259696 | TBC1D24 | c.89C= (p.Thr30=) n.271C= | |
16 | g.2496237C>G | CA394374478 | TBC1D24 | c.89C>G (p.Thr30Ser) n.271C>G | dbSNP |
16 | g.2496237C>T | CA7843920 | TBC1D24 | c.89C>T (p.Thr30Ile) n.271C>T | dbSNP ExAC gnomAD v4 |
16 | g.2496238T>A | CA493160406 | TBC1D24 | c.90T>A (p.Thr30=) n.272T>A | |
16 | g.2496238T>C | CA7843921 | TBC1D24 | c.90T>C (p.Thr30=) n.272T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496238T>G | CA493160411 | TBC1D24 | c.90T>G (p.Thr30=) n.272T>G | |
16 | g.2496238T= | CA2202259697 | TBC1D24 | c.90T= (p.Thr30=) n.272T= | |
16 | g.2496239G>A | CA394374482 | TBC1D24 | c.91G>A (p.Glu31Lys) n.273G>A | |
16 | g.2496239G>C | CA394374484 | TBC1D24 | c.91G>C (p.Glu31Gln) n.273G>C | |
16 | g.2496239G>T | CA394374486 | TBC1D24 | c.91G>T (p.Glu31Ter) n.273G>T | |
16 | g.2496240A>C | CA394374487 | TBC1D24 | c.92A>C (p.Glu31Ala) n.274A>C | |
16 | g.2496240A>G | CA394374488 | TBC1D24 | c.92A>G (p.Glu31Gly) n.274A>G | |
16 | g.2496240A>T | CA394374490 | TBC1D24 | c.92A>T (p.Glu31Val) n.274A>T | |
16 | g.2496241A>C | CA394374493 | TBC1D24 | c.93A>C (p.Glu31Asp) n.275A>C | |
16 | g.2496241A>G | CA493160417 | TBC1D24 | c.93A>G (p.Glu31=) n.275A>G | |
16 | g.2496241A>T | CA394374494 | TBC1D24 | c.93A>T (p.Glu31Asp) n.275A>T | |
16 | g.2496242C>A | CA394374495 | TBC1D24 | c.94C>A (p.Leu32Met) n.276C>A | |
16 | g.2496242C= | CA2202259698 | TBC1D24 | c.94C= (p.Leu32=) n.276C= | |
16 | g.2496242C>G | CA394374497 | TBC1D24 | c.94C>G (p.Leu32Val) n.276C>G | |
16 | g.2496242C>T | CA493160423 | TBC1D24 | c.94C>T (p.Leu32=) n.276C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496243T>A | CA394374498 | TBC1D24 | c.95T>A (p.Leu32Gln) n.277T>A | |
16 | g.2496243T>C | CA394374500 | TBC1D24 | c.95T>C (p.Leu32Pro) n.277T>C | |
16 | g.2496243T>G | CA394374502 | TBC1D24 | c.95T>G (p.Leu32Arg) n.277T>G | ClinVar dbSNP |
16 | g.2496244G>A | CA493160432 | TBC1D24 | c.96G>A (p.Leu32=) n.278G>A | |
16 | g.2496244G>C | CA493160437 | TBC1D24 | c.96G>C (p.Leu32=) n.278G>C | |
16 | g.2496244G= | CA2202259699 | TBC1D24 | c.96G= (p.Leu32=) n.278G= | |
16 | g.2496244G>T | CA276809608 | TBC1D24 | c.96G>T (p.Leu32=) n.278G>T | dbSNP gnomAD v4 |
16 | g.2496245C>A | CA394374504 | TBC1D24 | c.97C>A (p.Gln33Lys) n.279C>A | gnomAD v4 |
16 | g.2496245C= | CA2202259700 | TBC1D24 | c.97C= (p.Gln33=) n.279C= | |
16 | g.2496245C>G | CA394374506 | TBC1D24 | c.97C>G (p.Gln33Glu) n.279C>G | |
16 | g.2496245C>T | CA394374508 | TBC1D24 | c.97C>T (p.Gln33Ter) n.279C>T | dbSNP |
16 | g.2496246del | CA2631209043 | TBC1D24 | c.98del (p.Gln33ArgfsTer3) n.280del | gnomAD v4 |
16 | g.2496246A= | CA2202259701 | TBC1D24 | c.98A= (p.Gln33=) n.280A= | |
16 | g.2496246A>C | CA394374510 | TBC1D24 | c.98A>C (p.Gln33Pro) n.280A>C | dbSNP |
16 | g.2496246A>G | CA394374511 | TBC1D24 | c.98A>G (p.Gln33Arg) n.280A>G | gnomAD v4 |
16 | g.2496246A>T | CA394374512 | TBC1D24 | c.98A>T (p.Gln33Leu) n.280A>T | |
16 | g.2496247G>A | CA493160442 | TBC1D24 | c.99G>A (p.Gln33=) n.281G>A | |
16 | g.2496247G>C | CA394374516 | TBC1D24 | c.99G>C (p.Gln33His) n.281G>C | |
16 | g.2496247G= | CA2202259702 | TBC1D24 | c.99G= (p.Gln33=) n.281G= | |
16 | g.2496247G>T | CA394374514 | TBC1D24 | c.99G>T (p.Gln33His) n.281G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496248G>A | CA394374518 | TBC1D24 | c.100G>A (p.Glu34Lys) n.282G>A | |
16 | g.2496248G>C | CA394374522 | TBC1D24 | c.100G>C (p.Glu34Gln) n.282G>C | |
16 | g.2496248G>T | CA394374521 | TBC1D24 | c.100G>T (p.Glu34Ter) n.282G>T | |
16 | g.2496249A>C | CA394374523 | TBC1D24 | c.101A>C (p.Glu34Ala) n.283A>C | |
16 | g.2496249A>G | CA394374524 | TBC1D24 | c.101A>G (p.Glu34Gly) n.283A>G | |
16 | g.2496249A>T | CA394374525 | TBC1D24 | c.101A>T (p.Glu34Val) n.283A>T | |
16 | g.2496250A= | CA2202259703 | TBC1D24 | c.102A= (p.Glu34=) n.284A= | |
16 | g.2496250A>C | CA394374528 | TBC1D24 | c.102A>C (p.Glu34Asp) n.284A>C | |
16 | g.2496250A>G | CA493160453 | TBC1D24 | c.102A>G (p.Glu34=) n.284A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496250A>T | CA394374530 | TBC1D24 | c.102A>T (p.Glu34Asp) n.284A>T | |
16 | g.2496251C>A | CA394374533 | TBC1D24 | c.103C>A (p.Leu35Met) n.285C>A | |
16 | g.2496251C>G | CA394374535 | TBC1D24 | c.103C>G (p.Leu35Val) n.285C>G | |
16 | g.2496251C>T | CA493160457 | TBC1D24 | c.103C>T (p.Leu35=) n.285C>T | |
16 | g.2496252T>A | CA394374536 | TBC1D24 | c.104T>A (p.Leu35Gln) n.286T>A | |
16 | g.2496252T>C | CA394374538 | TBC1D24 | c.104T>C (p.Leu35Pro) n.286T>C | COSMIC |
16 | g.2496252T>G | CA394374540 | TBC1D24 | c.104T>G (p.Leu35Arg) n.286T>G | |
16 | g.2496253G>A | CA493366520 | TBC1D24 | c.105G>A (p.Leu35=) n.287G>A | gnomAD v4 |
16 | g.2496253G>C | CA493366522 | TBC1D24 | c.105G>C (p.Leu35=) n.287G>C | |
16 | g.2496253G>T | CA493366521 | TBC1D24 | c.105G>T (p.Leu35=) n.287G>T | |
16 | g.2496254A>C | CA394374542 | TBC1D24 | c.106A>C (p.Lys36Gln) n.288A>C | |
16 | g.2496254A>G | CA394374544 | TBC1D24 | c.106A>G (p.Lys36Glu) n.288A>G | |
16 | g.2496254A>T | CA394374546 | TBC1D24 | c.106A>T (p.Lys36Ter) n.288A>T | |
16 | g.2496255A>C | CA394374548 | TBC1D24 | c.107A>C (p.Lys36Thr) n.289A>C | |
16 | g.2496255A>G | CA394374552 | TBC1D24 | c.107A>G (p.Lys36Arg) n.289A>G | |
16 | g.2496255A>T | CA394374550 | TBC1D24 | c.107A>T (p.Lys36Met) n.289A>T | |
16 | g.2496256G>A | CA493366523 | TBC1D24 | c.108G>A (p.Lys36=) n.290G>A | gnomAD v4 |
16 | g.2496256G>C | CA394374554 | TBC1D24 | c.108G>C (p.Lys36Asn) n.290G>C | |
16 | g.2496256G>T | CA394374556 | TBC1D24 | c.108G>T (p.Lys36Asn) n.290G>T | |
16 | g.2496257C>A | CA394374558 | TBC1D24 | c.109C>A (p.Gln37Lys) n.291C>A | |
16 | g.2496257C>G | CA394374560 | TBC1D24 | c.109C>G (p.Gln37Glu) n.291C>G | |
16 | g.2496257C>T | CA394374562 | TBC1D24 | c.109C>T (p.Gln37Ter) n.291C>T | |
16 | g.2496258A>C | CA394374565 | TBC1D24 | c.110A>C (p.Gln37Pro) n.292A>C | |
16 | g.2496258A>G | CA394374567 | TBC1D24 | c.110A>G (p.Gln37Arg) n.292A>G | |
16 | g.2496258A>T | CA394374569 | TBC1D24 | c.110A>T (p.Gln37Leu) n.292A>T | |
16 | g.2496259G>A | CA493366524 | TBC1D24 | c.111G>A (p.Gln37=) n.293G>A | |
16 | g.2496259G>C | CA394374570 | TBC1D24 | c.111G>C (p.Gln37His) n.293G>C | |
16 | g.2496259G>T | CA394374571 | TBC1D24 | c.111G>T (p.Gln37His) n.293G>T | |
16 | g.2496260C>A | CA394374577 | TBC1D24 | c.112C>A (p.Leu38Met) n.294C>A | |
16 | g.2496260C>G | CA394374574 | TBC1D24 | c.112C>G (p.Leu38Val) n.294C>G | |
16 | g.2496260C>T | CA493366525 | TBC1D24 | c.112C>T (p.Leu38=) n.294C>T | |
16 | g.2496261T>A | CA394374579 | TBC1D24 | c.113T>A (p.Leu38Gln) n.295T>A | |
16 | g.2496261T>C | CA394374581 | TBC1D24 | c.113T>C (p.Leu38Pro) n.295T>C | |
16 | g.2496261T>G | CA394374583 | TBC1D24 | c.113T>G (p.Leu38Arg) n.295T>G | |
16 | g.2496262G>A | CA493366526 | TBC1D24 | c.114G>A (p.Leu38=) n.296G>A | |
16 | g.2496262G>C | CA493366527 | TBC1D24 | c.114G>C (p.Leu38=) n.296G>C | |
16 | g.2496262G>T | CA493366528 | TBC1D24 | c.114G>T (p.Leu38=) n.296G>T | |
16 | g.2496263G>A | CA7843922 | TBC1D24 | c.115G>A (p.Ala39Thr) n.297G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496263G>C | CA394374586 | TBC1D24 | c.115G>C (p.Ala39Pro) n.297G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496263G= | CA2202259704 | TBC1D24 | c.115G= (p.Ala39=) n.297G= | |
16 | g.2496263G>T | CA394374588 | TBC1D24 | c.115G>T (p.Ala39Ser) n.297G>T | |
16 | g.2496264C>A | CA7843923 | TBC1D24 | c.116C>A (p.Ala39Glu) n.298C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496264C= | CA2202259705 | TBC1D24 | c.116C= (p.Ala39=) n.298C= | |
16 | g.2496264C>G | CA394374590 | TBC1D24 | c.116C>G (p.Ala39Gly) n.298C>G | |
16 | g.2496264C>T | CA7843924 | TBC1D24 | c.116C>T (p.Ala39Val) n.298C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2496265G>A | CA7843925 | TBC1D24 | c.117G>A (p.Ala39=) n.299G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496265G>C | CA493366529 | TBC1D24 | c.117G>C (p.Ala39=) n.299G>C | |
16 | g.2496265G= | CA2202259706 | TBC1D24 | c.117G= (p.Ala39=) n.299G= | |
16 | g.2496265G>T | CA493366530 | TBC1D24 | c.117G>T (p.Ala39=) n.299G>T | |
16 | g.2496266C>A | CA394374595 | TBC1D24 | c.118C>A (p.Arg40Ser) n.300C>A | |
16 | g.2496266C= | CA2202259707 | TBC1D24 | c.118C= (p.Arg40=) n.300C= | |
16 | g.2496266C>G | CA394374598 | TBC1D24 | c.118C>G (p.Arg40Gly) n.300C>G | dbSNP gnomAD v4 |
16 | g.2496266C>T | CA345418 | TBC1D24 | c.118C>T (p.Arg40Cys) n.300C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.2496267G>A | CA394374601 | TBC1D24 | c.119G>A (p.Arg40His) n.301G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496267G>C | CA7843926 | TBC1D24 | c.119G>C (p.Arg40Pro) n.301G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496267G= | CA2202259708 | TBC1D24 | c.119G= (p.Arg40=) n.301G= | |
16 | g.2496267G>T | CA347136 | TBC1D24 | c.119G>T (p.Arg40Leu) n.301G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496268C>A | CA493366531 | TBC1D24 | c.120C>A (p.Arg40=) n.302C>A | |
16 | g.2496268C>G | CA493366532 | TBC1D24 | c.120C>G (p.Arg40=) n.302C>G | |
16 | g.2496268C>T | CA493366533 | TBC1D24 | c.120C>T (p.Arg40=) n.302C>T | |
16 | g.2496269C>A | CA394374604 | TBC1D24 | c.121C>A (p.Gln41Lys) n.303C>A | |
16 | g.2496269C= | CA2202259709 | TBC1D24 | c.121C= (p.Gln41=) n.303C= | |
16 | g.2496269C>G | CA394374606 | TBC1D24 | c.121C>G (p.Gln41Glu) n.303C>G | |
16 | g.2496269C>T | CA16608135 | TBC1D24 | c.121C>T (p.Gln41Ter) n.303C>T | ClinVar dbSNP |
16 | g.2496270A>C | CA394374609 | TBC1D24 | c.122A>C (p.Gln41Pro) n.304A>C | |
16 | g.2496270A>G | CA394374610 | TBC1D24 | c.122A>G (p.Gln41Arg) n.304A>G | |
16 | g.2496270A>T | CA394374612 | TBC1D24 | c.122A>T (p.Gln41Leu) n.304A>T | |
16 | g.2496271G>A | CA493366534 | TBC1D24 | c.123G>A (p.Gln41=) n.305G>A | |
16 | g.2496271G>C | CA394374614 | TBC1D24 | c.123G>C (p.Gln41His) n.305G>C | |
16 | g.2496271G= | CA2202259710 | TBC1D24 | c.123G= (p.Gln41=) n.305G= | |
16 | g.2496271G>T | CA7843927 | TBC1D24 | c.123G>T (p.Gln41His) n.305G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496272G>A | CA394374618 | TBC1D24 | c.124G>A (p.Gly42Ser) n.306G>A | |
16 | g.2496272G>C | CA394374619 | TBC1D24 | c.124G>C (p.Gly42Arg) n.306G>C | |
16 | g.2496272G>T | CA394374620 | TBC1D24 | c.124G>T (p.Gly42Cys) n.306G>T | |
16 | g.2496273G>A | CA394374623 | TBC1D24 | c.125G>A (p.Gly42Asp) n.307G>A | gnomAD v4 |
16 | g.2496273G>C | CA394374625 | TBC1D24 | c.125G>C (p.Gly42Ala) n.307G>C | |
16 | g.2496273G>T | CA394374627 | TBC1D24 | c.125G>T (p.Gly42Val) n.307G>T | |
16 | g.2496274C>A | CA493366536 | TBC1D24 | c.126C>A (p.Gly42=) n.308C>A | |
16 | g.2496274C>G | CA493366537 | TBC1D24 | c.126C>G (p.Gly42=) n.308C>G | |
16 | g.2496274C>T | CA493366535 | TBC1D24 | c.126C>T (p.Gly42=) n.308C>T | |
16 | g.2496275T>A | CA394374632 | TBC1D24 | c.127T>A (p.Tyr43Asn) n.309T>A | |
16 | g.2496275T>C | CA394374634 | TBC1D24 | c.127T>C (p.Tyr43His) n.309T>C | |
16 | g.2496275T>G | CA394374630 | TBC1D24 | c.127T>G (p.Tyr43Asp) n.309T>G | |
16 | g.2496276A>C | CA394374640 | TBC1D24 | c.128A>C (p.Tyr43Ser) n.310A>C | gnomAD v4 |
16 | g.2496276A>G | CA394374636 | TBC1D24 | c.128A>G (p.Tyr43Cys) n.310A>G | |
16 | g.2496276A>T | CA394374638 | TBC1D24 | c.128A>T (p.Tyr43Phe) n.310A>T | |
16 | g.2496277C>A | CA394374642 | TBC1D24 | c.129C>A (p.Tyr43Ter) n.311C>A | |
16 | g.2496277C>G | CA394374644 | TBC1D24 | c.129C>G (p.Tyr43Ter) n.311C>G | |
16 | g.2496277C>T | CA493366538 | TBC1D24 | c.129C>T (p.Tyr43=) n.311C>T | |
16 | g.2496278T>A | CA394374647 | TBC1D24 | c.130T>A (p.Trp44Arg) n.312T>A | |
16 | g.2496278T>C | CA394374649 | TBC1D24 | c.130T>C (p.Trp44Arg) n.312T>C | ClinVar dbSNP |
16 | g.2496278T>G | CA394374651 | TBC1D24 | c.130T>G (p.Trp44Gly) n.312T>G | |
16 | g.2496278T= | CA2202259711 | TBC1D24 | c.130T= (p.Trp44=) n.312T= | |
16 | g.2496279G>A | CA394374654 | TBC1D24 | c.131G>A (p.Trp44Ter) n.313G>A | ClinVar dbSNP gnomAD v4 |
16 | g.2496279G>C | CA394374655 | TBC1D24 | c.131G>C (p.Trp44Ser) n.313G>C | |
16 | g.2496279G= | CA2202259712 | TBC1D24 | c.131G= (p.Trp44=) n.313G= | |
16 | g.2496279G>T | CA394374657 | TBC1D24 | c.131G>T (p.Trp44Leu) n.313G>T | |
16 | g.2496280G>A | CA7843928 | TBC1D24 | c.132G>A (p.Trp44Ter) n.314G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496280G>C | CA394374659 | TBC1D24 | c.132G>C (p.Trp44Cys) n.314G>C | dbSNP |
16 | g.2496280G= | CA2202259713 | TBC1D24 | c.132G= (p.Trp44=) n.314G= | |
16 | g.2496280G>T | CA394374661 | TBC1D24 | c.132G>T (p.Trp44Cys) n.314G>T | |
16 | g.2496281G>A | CA394374666 | TBC1D24 | c.133G>A (p.Ala45Thr) n.315G>A | |
16 | g.2496281G>C | CA394374664 | TBC1D24 | c.133G>C (p.Ala45Pro) n.315G>C | |
16 | g.2496281G>T | CA394374662 | TBC1D24 | c.133G>T (p.Ala45Ser) n.315G>T | gnomAD v4 |
16 | g.2496281_2496282delinsGC | CA2202259714 | TBC1D24 | c.133_134delinsGC (p.Ala45=) n.315_316delinsGC | |
16 | g.2496282C>A | CA394374668 | TBC1D24 | c.134C>A (p.Ala45Asp) n.316C>A | |
16 | g.2496282C= | CA2202259715 | TBC1D24 | c.134C= (p.Ala45=) n.316C= | |
16 | g.2496282C>G | CA394374670 | TBC1D24 | c.134C>G (p.Ala45Gly) n.316C>G | |
16 | g.2496282C>T | CA394374671 | TBC1D24 | c.134C>T (p.Ala45Val) n.316C>T | dbSNP |
16 | g.2496284del | CA719346151 | TBC1D24 | c.136del (p.Gln46LysfsTer13) c.136del (p.Gln46LysfsTer?) n.318del | dbSNP |
16 | g.2496283C>A | CA493366539 | TBC1D24 | c.135C>A (p.Ala45=) n.317C>A | |
16 | g.2496283C>G | CA493366540 | TBC1D24 | c.135C>G (p.Ala45=) n.317C>G | |
16 | g.2496283C>T | CA493366541 | TBC1D24 | c.135C>T (p.Ala45=) n.317C>T | gnomAD v4 |
16 | g.2496284C>A | CA394374674 | TBC1D24 | c.136C>A (p.Gln46Lys) n.318C>A | |
16 | g.2496284C>G | CA394374676 | TBC1D24 | c.136C>G (p.Gln46Glu) n.318C>G | |
16 | g.2496284C>T | CA394374678 | TBC1D24 | c.136C>T (p.Gln46Ter) n.318C>T | |
16 | g.2496285A>C | CA394374680 | TBC1D24 | c.137A>C (p.Gln46Pro) n.319A>C | |
16 | g.2496285A>G | CA394374682 | TBC1D24 | c.137A>G (p.Gln46Arg) n.319A>G | |
16 | g.2496285A>T | CA394374684 | TBC1D24 | c.137A>T (p.Gln46Leu) n.319A>T | |
16 | g.2496286A>C | CA394374686 | TBC1D24 | c.138A>C (p.Gln46His) n.320A>C | |
16 | g.2496286A>G | CA493366542 | TBC1D24 | c.138A>G (p.Gln46=) n.320A>G | |
16 | g.2496286A>T | CA394374687 | TBC1D24 | c.138A>T (p.Gln46His) n.320A>T | |
16 | g.2496287A>C | CA394374690 | TBC1D24 | c.139A>C (p.Ser47Arg) n.321A>C | |
16 | g.2496287A>G | CA394374692 | TBC1D24 | c.139A>G (p.Ser47Gly) n.321A>G | |
16 | g.2496287A>T | CA394374694 | TBC1D24 | c.139A>T (p.Ser47Cys) n.321A>T | |
16 | g.2496288G>A | CA394374698 | TBC1D24 | c.140G>A (p.Ser47Asn) n.322G>A | |
16 | g.2496288G>C | CA394374699 | TBC1D24 | c.140G>C (p.Ser47Thr) n.322G>C | |
16 | g.2496288G>T | CA394374696 | TBC1D24 | c.140G>T (p.Ser47Ile) n.322G>T | |
16 | g.2496289C>A | CA394374701 | TBC1D24 | c.141C>A (p.Ser47Arg) n.323C>A | |
16 | g.2496289C>G | CA394374703 | TBC1D24 | c.141C>G (p.Ser47Arg) n.323C>G | |
16 | g.2496289C>T | CA493366543 | TBC1D24 | c.141C>T (p.Ser47=) n.323C>T | |
16 | g.2496290C>A | CA394374705 | TBC1D24 | c.142C>A (p.His48Asn) n.324C>A | |
16 | g.2496290C>G | CA394374706 | TBC1D24 | c.142C>G (p.His48Asp) n.324C>G | |
16 | g.2496290C>T | CA394374708 | TBC1D24 | c.142C>T (p.His48Tyr) n.324C>T | gnomAD v4 |
16 | g.2496290_2496291insCACACCAAACACACCCAACAC | CA2805583147 | TBC1D24 | c.142_143insCACACCAAACACACCCAACAC (p.Ser47_His48insProHisGlnThrHisProThr) n.324_325insCACACCAAACACACCCAACAC | |
16 | g.2496291A= | CA2202259716 | TBC1D24 | c.143A= (p.His48=) n.325A= | |
16 | g.2496291A>C | CA394374709 | TBC1D24 | c.143A>C (p.His48Pro) n.325A>C | dbSNP |
16 | g.2496291A>G | CA394374711 | TBC1D24 | c.143A>G (p.His48Arg) n.325A>G | |
16 | g.2496291A>T | CA7843929 | TBC1D24 | c.143A>T (p.His48Leu) n.325A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496292C>A | CA394374713 | TBC1D24 | c.144C>A (p.His48Gln) n.326C>A | |
16 | g.2496292C= | CA2202259717 | TBC1D24 | c.144C= (p.His48=) n.326C= | |
16 | g.2496292C>G | CA7843931 | TBC1D24 | c.144C>G (p.His48Gln) n.326C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496292C>T | CA7843930 | TBC1D24 | c.144C>T (p.His48=) n.326C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496293G>A | CA7843932 | TBC1D24 | c.145G>A (p.Ala49Thr) n.327G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2496293G>C | CA394374719 | TBC1D24 | c.145G>C (p.Ala49Pro) n.327G>C | gnomAD v4 |
16 | g.2496293G= | CA2202259718 | TBC1D24 | c.145G= (p.Ala49=) n.327G= | |
16 | g.2496293G>T | CA394374717 | TBC1D24 | c.145G>T (p.Ala49Ser) n.327G>T | gnomAD v4 |
16 | g.2496294C>A | CA394374722 | TBC1D24 | c.146C>A (p.Ala49Asp) n.328C>A | |
16 | g.2496294C= | CA2202259719 | TBC1D24 | c.146C= (p.Ala49=) n.328C= | |
16 | g.2496294C>G | CA394374724 | TBC1D24 | c.146C>G (p.Ala49Gly) n.328C>G | |
16 | g.2496294C>T | CA394374727 | TBC1D24 | c.146C>T (p.Ala49Val) n.328C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496295C>A | CA493366546 | TBC1D24 | c.147C>A (p.Ala49=) n.329C>A | |
16 | g.2496295C>G | CA493366544 | TBC1D24 | c.147C>G (p.Ala49=) n.329C>G | |
16 | g.2496295C>T | CA493366545 | TBC1D24 | c.147C>T (p.Ala49=) n.329C>T | |
16 | g.2496296C>A | CA394374728 | TBC1D24 | c.148C>A (p.Leu50Met) n.330C>A | |
16 | g.2496296C= | CA2202259720 | TBC1D24 | c.148C= (p.Leu50=) n.330C= | |
16 | g.2496296C>G | CA394374729 | TBC1D24 | c.148C>G (p.Leu50Val) n.330C>G | |
16 | g.2496296C>T | CA493366547 | TBC1D24 | c.148C>T (p.Leu50=) n.330C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496297T>A | CA394374731 | TBC1D24 | c.149T>A (p.Leu50Gln) n.331T>A | |
16 | g.2496297T>C | CA394374733 | TBC1D24 | c.149T>C (p.Leu50Pro) n.331T>C | |
16 | g.2496297T>G | CA394374735 | TBC1D24 | c.149T>G (p.Leu50Arg) n.331T>G | |
16 | g.2496298G>A | CA493366550 | TBC1D24 | c.150G>A (p.Leu50=) n.332G>A | |
16 | g.2496298G>C | CA493366549 | TBC1D24 | c.150G>C (p.Leu50=) n.332G>C | dbSNP |
16 | g.2496298G= | CA2202259721 | TBC1D24 | c.150G= (p.Leu50=) n.332G= | |
16 | g.2496298G>T | CA493366548 | TBC1D24 | c.150G>T (p.Leu50=) n.332G>T | |
16 | g.2496299C>A | CA493366551 | TBC1D24 | c.151C>A (p.Arg51=) n.333C>A | |
16 | g.2496299C= | CA2202259722 | TBC1D24 | c.151C= (p.Arg51=) n.333C= | |
16 | g.2496299C>G | CA394374737 | TBC1D24 | c.151C>G (p.Arg51Gly) n.333C>G | |
16 | g.2496299C>T | CA10648174 | TBC1D24 | c.151C>T (p.Arg51Trp) n.333C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496300G>A | CA7843933 | TBC1D24 | c.152G>A (p.Arg51Gln) n.334G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496300G>C | CA394374742 | TBC1D24 | c.152G>C (p.Arg51Pro) n.334G>C | |
16 | g.2496300G= | CA2202259723 | TBC1D24 | c.152G= (p.Arg51=) n.334G= | |
16 | g.2496300G>T | CA394374744 | TBC1D24 | c.152G>T (p.Arg51Leu) n.334G>T | gnomAD v4 |
16 | g.2496303del | CA2631209167 | TBC1D24 | c.155del (p.Gly52GlufsTer7) c.155del (p.Gly52GlufsTer?) n.337del | gnomAD v4 |
16 | g.2496301G>A | CA493366554 | TBC1D24 | c.153G>A (p.Arg51=) n.335G>A | |
16 | g.2496301G>C | CA493366552 | TBC1D24 | c.153G>C (p.Arg51=) n.335G>C | |
16 | g.2496301G>T | CA493366553 | TBC1D24 | c.153G>T (p.Arg51=) n.335G>T | gnomAD v4 |
16 | g.2496302G>A | CA7843935 | TBC1D24 | c.154G>A (p.Gly52Arg) n.336G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496302G>C | CA394374749 | TBC1D24 | c.154G>C (p.Gly52Arg) n.336G>C | |
16 | g.2496302G= | CA2202259724 | TBC1D24 | c.154G= (p.Gly52=) n.336G= | |
16 | g.2496302G>T | CA394374747 | TBC1D24 | c.154G>T (p.Gly52Ter) n.336G>T | |
16 | g.2496303G>A | CA7843936 | TBC1D24 | c.155G>A (p.Gly52Glu) n.337G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496303G>C | CA394374755 | TBC1D24 | c.155G>C (p.Gly52Ala) n.337G>C | |
16 | g.2496303G= | CA2202259726 | TBC1D24 | c.155G= (p.Gly52=) n.337G= | |
16 | g.2496303G>T | CA394374752 | TBC1D24 | c.155G>T (p.Gly52Val) n.337G>T | |
16 | g.2496303_2496304delinsGA | CA2202259725 | TBC1D24 | c.155_156delinsGA (p.Gly52=) n.337_338delinsGA | |
16 | g.2496303_2496305dup | CA7843934 | TBC1D24 | c.155_157dup (p.Gly52_Lys53insArg) n.337_339dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496304A>C | CA493366555 | TBC1D24 | c.156A>C (p.Gly52=) n.338A>C | |
16 | g.2496304A>G | CA493366556 | TBC1D24 | c.156A>G (p.Gly52=) n.338A>G | |
16 | g.2496304A>T | CA493366557 | TBC1D24 | c.156A>T (p.Gly52=) n.338A>T | |
16 | g.2496306del | CA620709055 | TBC1D24 | c.158del (p.Lys53ArgfsTer6) c.158del (p.Lys53ArgfsTer?) n.340del | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496305A>C | CA394374757 | TBC1D24 | c.157A>C (p.Lys53Gln) n.339A>C | |
16 | g.2496305A>G | CA394374759 | TBC1D24 | c.157A>G (p.Lys53Glu) n.339A>G | gnomAD v4 |
16 | g.2496305A>T | CA394374760 | TBC1D24 | c.157A>T (p.Lys53Ter) n.339A>T | |
16 | g.2496306A>C | CA394374762 | TBC1D24 | c.158A>C (p.Lys53Thr) n.340A>C | |
16 | g.2496306A>G | CA394374765 | TBC1D24 | c.158A>G (p.Lys53Arg) n.340A>G | |
16 | g.2496306A>T | CA394374766 | TBC1D24 | c.158A>T (p.Lys53Met) n.340A>T | |
16 | g.2496307G>A | CA493366558 | TBC1D24 | c.159G>A (p.Lys53=) n.341G>A | |
16 | g.2496307G>C | CA394374768 | TBC1D24 | c.159G>C (p.Lys53Asn) n.341G>C | |
16 | g.2496307G>T | CA394374770 | TBC1D24 | c.159G>T (p.Lys53Asn) n.341G>T | gnomAD v4 |
16 | g.2496308G>A | CA394374772 | TBC1D24 | c.160G>A (p.Val54Met) c.160G>A n.342G>A | |
16 | g.2496308G>C | CA394374774 | TBC1D24 | c.160G>C (p.Val54Leu) c.160G>C n.342G>C | |
16 | g.2496308G= | CA2202259727 | TBC1D24 | c.160G= (p.Val54=) c.160G= n.342G= | |
16 | g.2496308G>T | CA394374776 | TBC1D24 | c.160G>T (p.Val54Leu) c.160G>T n.342G>T | ClinVar dbSNP gnomAD v4 |
16 | g.2496309T>A | CA394374781 | TBC1D24 | c.161T>A (p.Val54Glu) c.161T>A n.343T>A | |
16 | g.2496309T>C | CA394374780 | TBC1D24 | c.161T>C (p.Val54Ala) c.161T>C n.343T>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496309T>G | CA394374779 | TBC1D24 | c.161T>G (p.Val54Gly) c.161T>G n.343T>G | |
16 | g.2496309T= | CA2202259728 | TBC1D24 | c.161T= (p.Val54=) c.161T= n.343T= | |
16 | g.2496310G>A | CA7843937 | TBC1D24 | c.162G>A (p.Val54=) n.344G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496310G>C | CA493366559 | TBC1D24 | c.162G>C (p.Val54=) n.344G>C | dbSNP |
16 | g.2496310G= | CA2202259729 | TBC1D24 | c.162G= (p.Val54=) n.344G= | |
16 | g.2496310G>T | CA493366560 | TBC1D24 | c.162G>T (p.Val54=) n.344G>T | |
16 | g.2496311T>A | CA394374785 | TBC1D24 | c.163T>A (p.Tyr55Asn) n.345T>A | |
16 | g.2496311T>C | CA394374787 | TBC1D24 | c.163T>C (p.Tyr55His) n.345T>C | |
16 | g.2496311T>G | CA394374790 | TBC1D24 | c.163T>G (p.Tyr55Asp) n.345T>G | |
16 | g.2496312A= | CA2202259730 | TBC1D24 | c.164A= (p.Tyr55=) n.346A= | |
16 | g.2496312A>C | CA394374791 | TBC1D24 | c.164A>C (p.Tyr55Ser) n.346A>C | dbSNP |
16 | g.2496312A>G | CA394374792 | TBC1D24 | c.164A>G (p.Tyr55Cys) n.346A>G | dbSNP gnomAD v4 |
16 | g.2496312A>T | CA394374794 | TBC1D24 | c.164A>T (p.Tyr55Phe) n.346A>T | |
16 | g.2496313C>A | CA394374796 | TBC1D24 | c.165C>A (p.Tyr55Ter) n.347C>A | |
16 | g.2496313C>G | CA394374797 | TBC1D24 | c.165C>G (p.Tyr55Ter) n.347C>G | |
16 | g.2496313C>T | CA493366561 | TBC1D24 | c.165C>T (p.Tyr55=) n.347C>T | |
16 | g.2496314C>A | CA394374799 | TBC1D24 | c.166C>A (p.Gln56Lys) n.348C>A | |
16 | g.2496314C>G | CA394374802 | TBC1D24 | c.166C>G (p.Gln56Glu) n.348C>G | |
16 | g.2496314C>T | CA394374804 | TBC1D24 | c.166C>T (p.Gln56Ter) n.348C>T | |
16 | g.2496315A>C | CA394374807 | TBC1D24 | c.167A>C (p.Gln56Pro) n.349A>C | |
16 | g.2496315A>G | CA394374809 | TBC1D24 | c.167A>G (p.Gln56Arg) n.349A>G | |
16 | g.2496315A>T | CA394374805 | TBC1D24 | c.167A>T (p.Gln56Leu) n.349A>T | ClinVar dbSNP gnomAD v4 |
16 | g.2496316G>A | CA493366562 | TBC1D24 | c.168G>A (p.Gln56=) n.350G>A | |
16 | g.2496316G>C | CA394374811 | TBC1D24 | c.168G>C (p.Gln56His) n.350G>C | |
16 | g.2496316G>T | CA394374813 | TBC1D24 | c.168G>T (p.Gln56His) n.350G>T | gnomAD v4 |
16 | g.2496317C>A | CA7843938 | TBC1D24 | c.169C>A (p.Arg57Ser) n.351C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496317C= | CA2202259731 | TBC1D24 | c.169C= (p.Arg57=) n.351C= | |
16 | g.2496317C>G | CA394374816 | TBC1D24 | c.169C>G (p.Arg57Gly) n.351C>G | |
16 | g.2496317C>T | CA241775 | TBC1D24 | c.169C>T (p.Arg57Cys) n.351C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496318G>A | CA7843939 | TBC1D24 | c.170G>A (p.Arg57His) n.352G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496318G>C | CA394374822 | TBC1D24 | c.170G>C (p.Arg57Pro) n.352G>C | |
16 | g.2496318G= | CA2202259732 | TBC1D24 | c.170G= (p.Arg57=) n.352G= | |
16 | g.2496318G>T | CA394374820 | TBC1D24 | c.170G>T (p.Arg57Leu) n.352G>T | gnomAD v4 |
16 | g.2496318_2496319delinsGC | CA2202259733 | TBC1D24 | c.170_171delinsGC (p.Arg57=) n.352_353delinsGC | |
16 | g.2496319C>A | CA493366565 | TBC1D24 | c.171C>A (p.Arg57=) n.353C>A | |
16 | g.2496319C>G | CA493366564 | TBC1D24 | c.171C>G (p.Arg57=) n.353C>G | |
16 | g.2496319C>T | CA493366563 | TBC1D24 | c.171C>T (p.Arg57=) n.353C>T | |
16 | g.2496320del | CA620709056 | TBC1D24 | c.172del (p.Leu58Ter) n.354del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496320C>A | CA7843940 | TBC1D24 | c.172C>A (p.Leu58Met) n.354C>A | dbSNP ExAC |
16 | g.2496320C= | CA2202259734 | TBC1D24 | c.172C= (p.Leu58=) n.354C= | |
16 | g.2496320C>G | CA394374826 | TBC1D24 | c.172C>G (p.Leu58Val) n.354C>G | |
16 | g.2496320C>T | CA493366566 | TBC1D24 | c.172C>T (p.Leu58=) n.354C>T | |
16 | g.2496321T>A | CA394374828 | TBC1D24 | c.173T>A (p.Leu58Gln) n.355T>A | |
16 | g.2496321T>C | CA394374829 | TBC1D24 | c.173T>C (p.Leu58Pro) n.355T>C | |
16 | g.2496321T>G | CA394374830 | TBC1D24 | c.173T>G (p.Leu58Arg) n.355T>G | |
16 | g.2496322G>A | CA7843941 | TBC1D24 | c.174G>A (p.Leu58=) n.356G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496322G>C | CA493366568 | TBC1D24 | c.174G>C (p.Leu58=) n.356G>C | |
16 | g.2496322G= | CA2202259735 | TBC1D24 | c.174G= (p.Leu58=) n.356G= | |
16 | g.2496322G>T | CA493366567 | TBC1D24 | c.174G>T (p.Leu58=) n.356G>T |