Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.63938502T>G | CA2270159528 | dbSNP | ||
17 | g.63938502T= | CA2270159527 | |||
17 | g.63938503C>A | CA2639312372 | gnomAD v4 | ||
17 | g.63938503C= | CA2270159529 | |||
17 | g.63938503C>G | CA2270159530 | dbSNP gnomAD v4 | ||
17 | g.63938504A>G | CA2639312374 | gnomAD v4 | ||
17 | g.63938505G>A | CA2639312379 | gnomAD v4 | ||
17 | g.63938505G>T | CA2639312380 | gnomAD v4 | ||
17 | g.63938506C>A | CA292954632 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
17 | g.63938506C= | CA2270159531 | |||
17 | g.63938506C>T | CA2639312381 | gnomAD v4 | ||
17 | g.63938507C>A | CA2639312382 | gnomAD v4 | ||
17 | g.63938508C>A | CA2639312384 | gnomAD v4 | ||
17 | g.63938508C>T | CA2639312383 | gnomAD v4 | ||
17 | g.63938509C>A | CA2639312385 | gnomAD v4 | ||
17 | g.63938509C= | CA2270159532 | |||
17 | g.63938509C>T | CA2270159533 | dbSNP gnomAD v4 | ||
17 | g.63938510C>A | CA292954635 | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
17 | g.63938510C= | CA2270159534 | |||
17 | g.63938510C>T | CA626860600 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
17 | g.63938511A>G | CA2639312395 | gnomAD v4 | ||
17 | g.63938512T>C | CA292954638 | dbSNP gnomAD v4 | ||
17 | g.63938512T= | CA2270159535 | |||
17 | g.63938513C>A | CA292954642 | dbSNP gnomAD v3 gnomAD v4 | ||
17 | g.63938513C= | CA2270159536 | |||
17 | g.63938514C>A | CA2639312399 | gnomAD v4 | ||
17 | g.63938514C= | CA2270159537 | |||
17 | g.63938514C>G | CA2639312401 | gnomAD v4 | ||
17 | g.63938514C>T | CA292954643 | dbSNP gnomAD v3 gnomAD v4 | ||
17 | g.63938515G>A | CA2270159539 | dbSNP gnomAD v4 | ||
17 | g.63938515G= | CA2270159538 | |||
17 | g.63938515G>T | CA292954647 | dbSNP gnomAD v3 gnomAD v4 | ||
17 | g.63938516C>A | CA2639312409 | gnomAD v4 | ||
17 | g.63938516C>T | CA2639312412 | gnomAD v4 | ||
17 | g.63938517A>G | CA2639312413 | gnomAD v4 | ||
17 | g.63938518T>A | CA985437519 | dbSNP | ||
17 | g.63938518T>C | CA2639312414 | gnomAD v4 | ||
17 | g.63938518T= | CA2270159540 | |||
17 | g.63938520del | CA2639312416 | gnomAD v4 | ||
17 | g.63938520C>A | CA2639312421 | gnomAD v4 | ||
17 | g.63938522C>A | CA2639312434 | gnomAD v4 | ||
17 | g.63938522C>T | CA2639312428 | gnomAD v4 | ||
17 | g.63938523A= | CA2270159541 | |||
17 | g.63938523A>G | CA292954657 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
17 | g.63938524T>A | CA2270159543 | dbSNP | ||
17 | g.63938524T>C | CA2639312440 | gnomAD v4 | ||
17 | g.63938524T= | CA2270159542 | |||
17 | g.63938525G>T | CA2639312442 | gnomAD v4 | ||
17 | g.63938526C>A | CA2639312446 | gnomAD v4 | ||
17 | g.63938526C>T | CA2639312450 | gnomAD v4 | ||
17 | g.63938527T>C | CA2639312494 | gnomAD v4 | ||
17 | g.63938528G>A | CA2520063063 | gnomAD v4 | ||
17 | g.63938528G>T | CA2639312522 | gnomAD v4 | ||
17 | g.63938529A>G | CA2639312523 | gnomAD v4 | ||
17 | g.63938530C>A | CA2639312524 | gnomAD v4 | ||
17 | g.63938530C>T | CA2639312525 | gnomAD v4 | ||
17 | g.63938532T>A | CA2639312526 | gnomAD v4 | ||
17 | g.63938532T>C | CA2639312527 | gnomAD v4 | ||
17 | g.63938532T>G | CA2733863143 | dbSNP | ||
17 | g.63938533G>T | CA2639312528 | gnomAD v4 | ||
17 | g.63938534C>A | CA2639312532 | gnomAD v4 | ||
17 | g.63938534C>G | CA2639312529 | gnomAD v4 | ||
17 | g.63938534C>T | CA2639312530 | gnomAD v4 | ||
17 | g.63938535A>G | CA2639312533 | gnomAD v4 | ||
17 | g.63938537A>G | CA2639312534 | gnomAD v4 | ||
17 | g.63938538A>T | CA2639312536 | gnomAD v4 | ||
17 | g.63938539G>A | CA2639312540 | gnomAD v4 | ||
17 | g.63938539G= | CA2270159544 | |||
17 | g.63938539G>T | CA774004159 | dbSNP gnomAD v3 gnomAD v4 | ||
17 | g.63938540G>T | CA2639312547 | gnomAD v4 | ||
17 | g.63938541G>A | CA2639312553 | gnomAD v4 | ||
17 | g.63938541G>T | CA2639312556 | gnomAD v4 | ||
17 | g.63938542A>G | CA2639312561 | gnomAD v4 | ||
17 | g.63938542A>T | CA2733863149 | dbSNP | ||
17 | g.63938543G>A | CA2733863150 | dbSNP | ||
17 | g.63938545A>G | CA2639312563 | gnomAD v4 | ||
17 | g.63938546G>A | CA774004162 | dbSNP gnomAD v4 | ||
17 | g.63938546G= | CA2270159545 | |||
17 | g.63938546G>T | CA2639312565 | gnomAD v4 | ||
17 | g.63938547C>A | CA2639312573 | gnomAD v4 | ||
17 | g.63938547C= | CA2270159546 | |||
17 | g.63938547C>T | CA292954663 | dbSNP gnomAD v4 | ||
17 | g.63938548C>A | CA2639312583 | gnomAD v4 | ||
17 | g.63938548C= | CA2270159547 | |||
17 | g.63938548C>T | CA2639312588 | dbSNP gnomAD v4 | ||
17 | g.63938549dup | CA2270159548 | dbSNP | ||
17 | g.63938550C>A | CA2639312594 | gnomAD v4 | ||
17 | g.63938550C>T | CA2810127266 | |||
17 | g.63938552T>C | CA2639312596 | dbSNP gnomAD v4 | ||
17 | g.63938553A>G | CA2639312598 | gnomAD v4 | ||
17 | g.63938554C>A | CA2639312600 | SCN4A | c.*2217G>T (n.*2217G>T) | gnomAD v4 |
17 | g.63938555C>A | CA2639312601 | SCN4A | c.*2216G>T (n.*2216G>T) | gnomAD v4 |
17 | g.63938559G>A | CA2639312603 | SCN4A | c.*2212C>T (n.*2212C>T) | gnomAD v4 |
17 | g.63938559G>C | CA2733863188 | SCN4A | c.*2212C>G (n.*2212C>G) | dbSNP |
17 | g.63938559G>T | CA2639312605 | SCN4A | c.*2212C>A (n.*2212C>A) | gnomAD v4 |
17 | g.63938560G>A | CA10650627 | SCN4A | c.*2211C>T (n.*2211C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63938560G= | CA2270159549 | SCN4A | c.*2211C= (n.*2211C=) | |
17 | g.63938561C>A | CA2568099803 | SCN4A | c.*2210G>T (n.*2210G>T) | gnomAD v4 |
17 | g.63938562A>G | CA2810127269 | SCN4A | c.*2209T>C (n.*2209T>C) | |
17 | g.63938563C= | CA2270159550 | SCN4A | c.*2208G= (n.*2208G=) | |
17 | g.63938563C>T | CA774004173 | SCN4A | c.*2208G>A (n.*2208G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63938564C>A | CA2639312617 | SCN4A | c.*2207G>T (n.*2207G>T) | gnomAD v4 |
17 | g.63938564C= | CA2270159551 | SCN4A | c.*2207G= (n.*2207G=) | |
17 | g.63938564C>T | CA292954667 | SCN4A | c.*2207G>A (n.*2207G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63938565A= | CA2270159552 | SCN4A | c.*2206T= (n.*2206T=) | |
17 | g.63938565A>G | CA774004176 | SCN4A | c.*2206T>C (n.*2206T>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63938566_63938567delinsAG | CA2270159553 | SCN4A | c.*2204_*2205delinsCT (n.*2204_*2205delinsCT) | |
17 | g.63938567G>A | CA2639312623 | SCN4A | c.*2204C>T (n.*2204C>T) | gnomAD v4 |
17 | g.63938567G>C | CA626860601 | SCN4A | c.*2204C>G (n.*2204C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63938567G= | CA2270159554 | SCN4A | c.*2204C= (n.*2204C=) | |
17 | g.63938568del | CA2270159555 | SCN4A | c.*2204del (n.*2204del) | dbSNP |
17 | g.63938568G>A | CA2270159557 | SCN4A | c.*2203C>T (n.*2203C>T) | dbSNP gnomAD v4 |
17 | g.63938568G= | CA2270159556 | SCN4A | c.*2203C= (n.*2203C=) | |
17 | g.63938570G>A | CA2270159559 | SCN4A | c.*2201C>T (n.*2201C>T) | dbSNP gnomAD v4 |
17 | g.63938570G>C | CA292954668 | SCN4A | c.*2201C>G (n.*2201C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63938570G= | CA2270159558 | SCN4A | c.*2201C= (n.*2201C=) | |
17 | g.63938571G>T | CA2639312634 | SCN4A | c.*2200C>A (n.*2200C>A) | gnomAD v4 |
17 | g.63938573T>C | CA2639312651 | SCN4A | c.*2198A>G (n.*2198A>G) | gnomAD v4 |
17 | g.63938575T>C | CA2639312653 | SCN4A | c.*2196A>G (n.*2196A>G) | gnomAD v4 |
17 | g.63938576A= | CA2270159560 | SCN4A | c.*2195T= (n.*2195T=) | |
17 | g.63938576A>C | CA626860602 | SCN4A | c.*2195T>G (n.*2195T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63938576A>G | CA2639312657 | SCN4A | c.*2195T>C (n.*2195T>C) | gnomAD v4 |
17 | g.63938577T>C | CA774004179 | SCN4A | c.*2194A>G (n.*2194A>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63938577T= | CA2270159561 | SCN4A | c.*2194A= (n.*2194A=) | |
17 | g.63938579_63938580insCTG | CA2639312661 | SCN4A | c.*2193_*2194insGCA (n.*2193_*2194insGCA) | gnomAD v4 |
17 | g.63938579G>A | CA292954669 | SCN4A | c.*2192C>T (n.*2192C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63938579G= | CA2270159562 | SCN4A | c.*2192C= (n.*2192C=) | |
17 | g.63938580T>C | CA2639312663 | SCN4A | c.*2191A>G (n.*2191A>G) | gnomAD v4 |
17 | g.63938581A>G | CA2639312678 | SCN4A | c.*2190T>C (n.*2190T>C) | gnomAD v4 |
17 | g.63938582del | CA2639312677 | SCN4A | c.*2190del (n.*2190del) | gnomAD v4 |
17 | g.63938583G>A | CA626860603 | SCN4A | c.*2188C>T (n.*2188C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63938583G= | CA2270159563 | SCN4A | c.*2188C= (n.*2188C=) | |
17 | g.63938583G>T | CA2639312681 | SCN4A | c.*2188C>A (n.*2188C>A) | gnomAD v4 |
17 | g.63938585A= | CA2270159565 | SCN4A | c.*2186T= (n.*2186T=) | |
17 | g.63938585A>G | CA2270159564 | SCN4A | c.*2186T>C (n.*2186T>C) | dbSNP |
17 | g.63938586C>A | CA2639312683 | SCN4A | c.*2185G>T (n.*2185G>T) | gnomAD v4 |
17 | g.63938586C= | CA2270159566 | SCN4A | c.*2185G= (n.*2185G=) | |
17 | g.63938586C>T | CA2270159567 | SCN4A | c.*2185G>A (n.*2185G>A) | dbSNP |
17 | g.63938588G>A | CA2639312685 | SCN4A | c.*2183C>T (n.*2183C>T) | gnomAD v4 |
17 | g.63938588G>T | CA2639312686 | SCN4A | c.*2183C>A (n.*2183C>A) | gnomAD v4 |
17 | g.63938589T>C | CA2270159569 | SCN4A | c.*2182A>G (n.*2182A>G) | dbSNP |
17 | g.63938589T= | CA2270159568 | SCN4A | c.*2182A= (n.*2182A=) | |
17 | g.63938591C>A | CA2639312688 | SCN4A | c.*2180G>T (n.*2180G>T) | gnomAD v4 |
17 | g.63938591C= | CA2270159570 | SCN4A | c.*2180G= (n.*2180G=) | |
17 | g.63938591C>G | CA774004191 | SCN4A | c.*2180G>C (n.*2180G>C) | dbSNP |
17 | g.63938591C>T | CA2270159571 | SCN4A | c.*2180G>A (n.*2180G>A) | dbSNP gnomAD v4 |
17 | g.63938593A>G | CA2639312689 | SCN4A | c.*2178T>C (n.*2178T>C) | gnomAD v4 |
17 | g.63938595G>A | CA292954671 | SCN4A | c.*2176C>T (n.*2176C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63938595G= | CA2270159572 | SCN4A | c.*2176C= (n.*2176C=) | |
17 | g.63938595G>T | CA2639312691 | SCN4A | c.*2176C>A (n.*2176C>A) | gnomAD v4 |
17 | g.63938598G>A | CA2639312692 | SCN4A | c.*2173C>T (n.*2173C>T) | gnomAD v4 |
17 | g.63938599C>T | CA2639312694 | SCN4A | c.*2172G>A (n.*2172G>A) | gnomAD v4 |
17 | g.63938600C= | CA2270159573 | SCN4A | c.*2171G= (n.*2171G=) | |
17 | g.63938600C>T | CA2270159574 | SCN4A | c.*2171G>A (n.*2171G>A) | dbSNP |
17 | g.63938601C>A | CA2810127273 | SCN4A | c.*2170G>T (n.*2170G>T) | |
17 | g.63938601C= | CA2270159575 | SCN4A | c.*2170G= (n.*2170G=) | |
17 | g.63938601C>T | CA292954672 | SCN4A | c.*2170G>A (n.*2170G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63938602G>A | CA774004211 | SCN4A | c.*2169C>T (n.*2169C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63938602G>C | CA10646416 | SCN4A | c.*2169C>G (n.*2169C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63938602G= | CA2270159576 | SCN4A | c.*2169C= (n.*2169C=) | |
17 | g.63938602G>T | CA774004200 | SCN4A | c.*2169C>A (n.*2169C>A) | dbSNP |