Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.15120447A>T | CA2513468859 | CLCN3P1 | n.549+5283T>A | |
9 | g.15120448C>A | CA1835374580 | CLCN3P1 | n.549+5282G>T | dbSNP |
9 | g.15120448C= | CA1835374579 | CLCN3P1 | n.549+5282G= | |
9 | g.15120448C>T | CA189418261 | CLCN3P1 | n.549+5282G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.15120450T>A | CA861404965 | CLCN3P1 | n.549+5280A>T | dbSNP |
9 | g.15120450T= | CA1835374583 | CLCN3P1 | n.549+5280A= | |
9 | g.15120451A= | CA1835374584 | CLCN3P1 | n.549+5279T= | |
9 | g.15120451A>C | CA1835374585 | CLCN3P1 | n.549+5279T>G | dbSNP |
9 | g.15120462C= | CA1835374587 | CLCN3P1 | n.549+5268G= | |
9 | g.15120462C>T | CA1121649920 | CLCN3P1 | n.549+5268G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.15120463A>G | CA2718932233 | CLCN3P1 | n.549+5267T>C | dbSNP |
9 | g.15120464C>A | CA189418264 | CLCN3P1 | n.549+5266G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.15120464C= | CA1835374589 | CLCN3P1 | n.549+5266G= | |
9 | g.15120468T>C | CA1121649925 | CLCN3P1 | n.549+5262A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.15120468T= | CA1835374591 | CLCN3P1 | n.549+5262A= | |
9 | g.15120470T>A | CA189418269 | CLCN3P1 | n.549+5260A>T | dbSNP |
9 | g.15120470T>C | CA861404966 | CLCN3P1 | n.549+5260A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.15120470T= | CA1835374594 | CLCN3P1 | n.549+5260A= | |
9 | g.15120471G>A | CA1835374600 | CLCN3P1 | n.549+5259C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.15120471G>C | CA1835374601 | CLCN3P1 | n.549+5259C>G | dbSNP |
9 | g.15120471G= | CA1835374598 | CLCN3P1 | n.549+5259C= | |
9 | g.15120476G>A | CA861404967 | CLCN3P1 | n.549+5254C>T | dbSNP |
9 | g.15120476G= | CA1835374605 | CLCN3P1 | n.549+5254C= | |
9 | g.15120479A= | CA1835374607 | CLCN3P1 | n.549+5251T= | |
9 | g.15120479A>G | CA1835374608 | CLCN3P1 | n.549+5251T>C | dbSNP |
9 | g.15120483C= | CA1835374610 | CLCN3P1 | n.549+5247G= | |
9 | g.15120483C>T | CA586249529 | CLCN3P1 | n.549+5247G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.15120489A= | CA1835374612 | CLCN3P1 | n.549+5241T= | |
9 | g.15120489A>T | CA1835374613 | CLCN3P1 | n.549+5241T>A | dbSNP |
9 | g.15120490G>A | CA189418277 | CLCN3P1 | n.549+5240C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.15120490G= | CA1835374614 | CLCN3P1 | n.549+5240C= | |
9 | g.15120492A= | CA1835374616 | CLCN3P1 | n.549+5238T= | |
9 | g.15120492A>G | CA1835374617 | CLCN3P1 | n.549+5238T>C | dbSNP |
9 | g.15120493A>T | CA2592380130 | CLCN3P1 | n.549+5237T>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.15120495G>A | CA2507663747 | CLCN3P1 | n.549+5235C>T | |
9 | g.15120495_15120501delinsGGACTGT | CA1835374619 | CLCN3P1 | n.549+5229_549+5235delinsACAGTCC | |
9 | g.15120496G>A | CA2560037408 | CLCN3P1 | n.549+5234C>T | |
9 | g.15120496G>T | CA2783011361 | CLCN3P1 | n.549+5234C>A | |
9 | g.15120500_15120505del | CA1835374620 | CLCN3P1 | n.549+5229_549+5234del | dbSNP gnomAD v3 gnomAD v4 |
9 | g.15120498C= | CA1835374622 | CLCN3P1 | n.549+5232G= | |
9 | g.15120498C>T | CA1835374621 | CLCN3P1 | n.549+5232G>A | dbSNP |
9 | g.15120500G>A | CA1121649926 | CLCN3P1 | n.549+5230C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.15120500G= | CA1835374623 | CLCN3P1 | n.549+5230C= | |
9 | g.15120502G>A | CA2511195968 | CLCN3P1 | n.549+5228C>T | |
9 | g.15120504C= | CA1835374625 | CLCN3P1 | n.549+5226G= | |
9 | g.15120504C>T | CA189418283 | CLCN3P1 | n.549+5226G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.15120506_15120508dup | CA861404968 | CLCN3P1 | n.549+5223_549+5225dup | dbSNP |
9 | g.15120506C= | CA1835374627 | CLCN3P1 | n.549+5224G= | |
9 | g.15120506C>T | CA189418292 | CLCN3P1 | n.549+5224G>A | dbSNP |
9 | g.15120507A= | CA1835374629 | CLCN3P1 | n.549+5223T= | |
9 | g.15120507A>C | CA189418300 | CLCN3P1 | n.549+5223T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.15120507A>G | CA189418310 | CLCN3P1 | n.549+5223T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.15120508T>C | CA2718867687 | CLCN3P1 | n.549+5222A>G | dbSNP |
9 | g.15120508T>G | CA861404969 | CLCN3P1 | n.549+5222A>C | dbSNP |
9 | g.15120508T= | CA1835374633 | CLCN3P1 | n.549+5222A= | |
9 | g.15120511A= | CA1835374635 | CLCN3P1 | n.549+5219T= | |
9 | g.15120511A>G | CA861404970 | CLCN3P1 | n.549+5219T>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.15120515T>G | CA861404971 | CLCN3P1 | n.549+5215A>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.15120515T= | CA1835374637 | CLCN3P1 | n.549+5215A= | |
9 | g.15120516T>G | CA861404972 | CLCN3P1 | n.549+5214A>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.15120516T= | CA1835374639 | CLCN3P1 | n.549+5214A= | |
9 | g.15120517T>C | CA1835374642 | CLCN3P1 | n.549+5213A>G | dbSNP |
9 | g.15120517T>G | CA861404973 | CLCN3P1 | n.549+5213A>C | dbSNP |
9 | g.15120517T= | CA1835374641 | CLCN3P1 | n.549+5213A= | |
9 | g.15120518A= | CA1835374645 | CLCN3P1 | n.549+5212T= | |
9 | g.15120518A>T | CA586249532 | CLCN3P1 | n.549+5212T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.15120518_15120525delinsATACCCAG | CA1835374646 | CLCN3P1 | n.549+5205_549+5212delinsCTGGGTAT | |
9 | g.15120519_15120525del | CA861404974 | CLCN3P1 | n.549+5205_549+5211del | dbSNP gnomAD v3 gnomAD v4 |
9 | g.15120522C>A | CA189418314 | CLCN3P1 | n.549+5208G>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.15120522C= | CA1835374648 | CLCN3P1 | n.549+5208G= | |
9 | g.15120526A= | CA1835374650 | CLCN3P1 | n.549+5204T= | |
9 | g.15120526A>G | CA1835374649 | CLCN3P1 | n.549+5204T>C | dbSNP |
9 | g.15120528C= | CA1835374655 | CLCN3P1 | n.549+5202G= | |
9 | g.15120528C>G | CA189418315 | CLCN3P1 | n.549+5202G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.15120528C>T | CA189418318 | CLCN3P1 | n.549+5202G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.15120529G>A | CA189418329 | CLCN3P1 | n.549+5201C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.15120529G= | CA1835374658 | CLCN3P1 | n.549+5201C= | |
9 | g.15120530G>A | CA1121649933 | CLCN3P1 | n.549+5200C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.15120530G= | CA1835374659 | CLCN3P1 | n.549+5200C= | |
9 | g.15120534T>A | CA861404976 | CLCN3P1 | n.549+5196A>T | dbSNP |
9 | g.15120534T>G | CA861404975 | CLCN3P1 | n.549+5196A>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.15120534T= | CA1835374661 | CLCN3P1 | n.549+5196A= | |
9 | g.15120537G>C | CA2718932280 | CLCN3P1 | n.549+5193C>G | dbSNP |
9 | g.15120538C= | CA1835374663 | CLCN3P1 | n.549+5192G= | |
9 | g.15120538C>G | CA1835374665 | CLCN3P1 | n.549+5192G>C | dbSNP |
9 | g.15120540C= | CA1835374668 | CLCN3P1 | n.549+5190G= | |
9 | g.15120540C>T | CA1121649934 | CLCN3P1 | n.549+5190G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.15120542T>G | CA189418335 | CLCN3P1 | n.549+5188A>C | dbSNP |
9 | g.15120542T= | CA1835374670 | CLCN3P1 | n.549+5188A= | |
9 | g.15120543G>A | CA586249535 | CLCN3P1 | n.549+5187C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.15120543G= | CA1835374672 | CLCN3P1 | n.549+5187C= | |
9 | g.15120543G>T | CA2783011362 | CLCN3P1 | n.549+5187C>A | |
9 | g.15120544G>A | CA861404977 | CLCN3P1 | n.549+5186C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.15120544G= | CA1835374674 | CLCN3P1 | n.549+5186C= | |
9 | g.15120544G>T | CA652652065 | CLCN3P1 | n.549+5186C>A | COSMIC |
9 | g.15120545T>C | CA189418337 | CLCN3P1 | n.549+5185A>G | dbSNP |
9 | g.15120545T= | CA1835374675 | CLCN3P1 | n.549+5185A= |