| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48467713_48467716del | CA2756154289 | |||
| 3 | g.48467714_48467716del | CA2665603601 | gnomAD v4 | ||
| 3 | g.48467714G>A | CA2756154290 | |||
| 3 | g.48467715_48467716insTGTGG | CA2665603603 | gnomAD v4 | ||
| 3 | g.48467714_48467717delinsGGGA | CA1363031518 | |||
| 3 | g.48467723_48467981del | CA2756154291 | |||
| 3 | g.48467720_48467722del | CA1363031519 | dbSNP gnomAD v4 | ||
| 3 | g.48467715_48467716insTGT | CA2665603606 | gnomAD v4 | ||
| 3 | g.48467716G>A | CA73933566 | dbSNP gnomAD v4 | ||
| 3 | g.48467716G= | CA1363031520 | |||
| 3 | g.48467716G>T | CA2756154293 | |||
| 3 | g.48467718_48467725del | CA2756154294 | |||
| 3 | g.48467717_48467735delinsAGGAGGGCACAGTGTTTGT | CA1363031521 | |||
| 3 | g.48467718G>A | CA2665603611 | gnomAD v4 | ||
| 3 | g.48467718_48467735del | CA915942476 | ClinVar dbSNP | ||
| 3 | g.48467719G>T | CA2665603612 | gnomAD v4 | ||
| 3 | g.48467720del | CA2665603615 | gnomAD v4 | ||
| 3 | g.48467720A>G | CA2665603613 | gnomAD v4 | ||
| 3 | g.48467721G>A | CA2665603618 | gnomAD v4 | ||
| 3 | g.48467722G>A | CA2665603619 | gnomAD v4 | ||
| 3 | g.48467723G>A | CA2665603627 | gnomAD v4 | ||
| 3 | g.48467723G>C | CA2665603630 | gnomAD v4 | ||
| 3 | g.48467723G>T | CA2665603631 | gnomAD v4 | ||
| 3 | g.48467723_48467724del | CA2756154295 | |||
| 3 | g.48467723_48467740del | CA2756154296 | |||
| 3 | g.48467723_48467724insACC | CA2756154297 | |||
| 3 | g.48467723_48467724insACTC | CA2756154298 | |||
| 3 | g.48467723_48467724insACAAA | CA2665603635 | gnomAD v4 | ||
| 3 | g.48467724C>A | CA2665603639 | gnomAD v4 | ||
| 3 | g.48467724C>T | CA2702685573 | dbSNP | ||
| 3 | g.48467726_48467727del | CA2665603637 | gnomAD v4 | ||
| 3 | g.48467725A>C | CA2665603642 | gnomAD v4 | ||
| 3 | g.48467725A>G | CA2665603645 | gnomAD v4 | ||
| 3 | g.48467726C>A | CA2665603646 | gnomAD v4 | ||
| 3 | g.48467726C>T | CA2665603647 | gnomAD v4 | ||
| 3 | g.48467727A= | CA1363031522 | |||
| 3 | g.48467727A>C | CA2756154299 | |||
| 3 | g.48467727A>G | CA73933570 | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 | ||
| 3 | g.48467727A>T | CA2665603651 | gnomAD v4 | ||
| 3 | g.48467728G>A | CA2665603654 | gnomAD v4 | ||
| 3 | g.48467728G= | CA1363031523 | |||
| 3 | g.48467728G>T | CA2756154300 | |||
| 3 | g.48467729T>A | CA2756154301 | |||
| 3 | g.48467729T>C | CA73933575 | ClinVar dbSNP dbSNP dbSNP gnomAD v3 gnomAD v4 | ||
| 3 | g.48467729T>G | CA73933581 | dbSNP | ||
| 3 | g.48467729T= | CA1363031524 | |||
| 3 | g.48467730_48467732dup | CA2665603666 | gnomAD v4 | ||
| 3 | g.48467732_48467735dup | CA907743354 | dbSNP gnomAD v4 | ||
| 3 | g.48467732_48467735del | CA2665603663 | gnomAD v4 | ||
| 3 | g.48467729_48467730insAGA | CA2756154302 | |||
| 3 | g.48467730G>A | CA2665603669 | gnomAD v4 | ||
| 3 | g.48467730G>C | CA2665603698 | gnomAD v4 | ||
| 3 | g.48467730_48467740del | CA2756154303 | |||
| 3 | g.48467731T>C | CA2665603699 | gnomAD v4 | ||
| 3 | g.48467731_48467732insAGTA | CA2756154304 | |||
| 3 | g.48467732T>C | CA2665603700 | gnomAD v4 | ||
| 3 | g.48467733T>A | CA2665603701 | gnomAD v4 | ||
| 3 | g.48467733_48467740del | CA2756154305 | |||
| 3 | g.48467734G>A | CA907743366 | dbSNP gnomAD v3 gnomAD v4 | ||
| 3 | g.48467734G>C | CA2665603704 | gnomAD v4 | ||
| 3 | g.48467734G= | CA1363031525 | |||
| 3 | g.48467735T>C | CA907743378 | dbSNP gnomAD v4 | ||
| 3 | g.48467735T= | CA1363031526 | |||
| 3 | g.48467736C>A | CA2665603711 | gnomAD v4 | ||
| 3 | g.48467736C= | CA1363031527 | |||
| 3 | g.48467736C>G | CA543045064 | dbSNP dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
| 3 | g.48467736C>T | CA1047679320 | dbSNP gnomAD v3 gnomAD v4 | ||
| 3 | g.48467737C>A | CA2665603717 | gnomAD v4 | ||
| 3 | g.48467737C>T | CA2665603716 | gnomAD v4 | ||
| 3 | g.48467737_48467738insAGT | CA2756154306 | |||
| 3 | g.48467738C>A | CA2665603719 | gnomAD v4 | ||
| 3 | g.48467738C= | CA1363031528 | |||
| 3 | g.48467738C>T | CA73933584 | dbSNP gnomAD v4 | ||
| 3 | g.48467739_48467740del | CA2756154307 | |||
| 3 | g.48467739T>A | CA2665603722 | gnomAD v4 | ||
| 3 | g.48467740C>A | CA2665603723 | gnomAD v4 | ||
| 3 | g.48467740_48467752del | CA2756154308 | |||
| 3 | g.48467741A= | CA1363031529 | |||
| 3 | g.48467741A>G | CA73933587 | dbSNP dbSNP gnomAD v3 gnomAD v4 | ||
| 3 | g.48467742C>A | CA2665603726 | gnomAD v4 | ||
| 3 | g.48467742C>G | CA2665603727 | gnomAD v4 | ||
| 3 | g.48467742_48467743dup | CA2665603725 | gnomAD v4 | ||
| 3 | g.48467742_48467743insACAG | CA2756154309 | |||
| 3 | g.48467743T>C | CA2665603733 | gnomAD v4 | ||
| 3 | g.48467743T>G | CA2665603734 | gnomAD v4 | ||
| 3 | g.48467745dup | CA2665603730 | gnomAD v4 | ||
| 3 | g.48467745del | CA2665603732 | gnomAD v4 | ||
| 3 | g.48467743_48467744insAGA | CA2756154310 | |||
| 3 | g.48467744T>A | CA2702787210 | dbSNP | ||
| 3 | g.48467744T>C | CA2665603735 | gnomAD v4 | ||
| 3 | g.48467744T>G | CA73933616 | dbSNP | ||
| 3 | g.48467744T= | CA1363031530 | |||
| 3 | g.48467744_48467745insACA | CA2756154311 | |||
| 3 | g.48467746C>A | CA73933620 | dbSNP gnomAD v4 | ||
| 3 | g.48467746C= | CA1363031531 | |||
| 3 | g.48467746C>T | CA73933621 | dbSNP dbSNP | ||
| 3 | g.48467747C>A | CA2665603741 | gnomAD v4 | ||
| 3 | g.48467747_48467748insAGT | CA2756154312 | |||
| 3 | g.48467748C>A | CA2665603743 | gnomAD v4 | ||
| 3 | g.48467748C>G | CA2665603745 | gnomAD v4 | ||
| 3 | g.48467748_48467749insACT | CA2756154314 | |||
| 3 | g.48467749del | CA2756154313 | |||
| 3 | g.48467749T>A | CA2665603747 | gnomAD v4 | ||
| 3 | g.48467749T>C | CA543045065 | dbSNP dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
| 3 | g.48467749T= | CA1363031532 | |||
| 3 | g.48467750_48467751insAGTT | CA2756154315 | |||
| 3 | g.48467751del | CA2756154316 | |||
| 3 | g.48467751G>A | CA2665603748 | gnomAD v4 | ||
| 3 | g.48467751_48467752insA | CA2756154317 | |||
| 3 | g.48467752C>A | CA2665603750 | gnomAD v4 | ||
| 3 | g.48467752C= | CA1363031533 | |||
| 3 | g.48467752C>G | CA73933625 | dbSNP | ||
| 3 | g.48467753A= | CA1363031534 | |||
| 3 | g.48467753A>G | CA73933635 | dbSNP dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
| 3 | g.48467754G>A | CA2665603755 | gnomAD v4 | ||
| 3 | g.48467754G>C | CA73933642 | dbSNP dbSNP gnomAD v3 gnomAD v4 | ||
| 3 | g.48467754G= | CA1363031535 | |||
| 3 | g.48467754G>T | CA2665603760 | gnomAD v4 | ||
| 3 | g.48467754_48467760del | CA2756154318 | |||
| 3 | g.48467755G>A | CA2665603780 | gnomAD v4 | ||
| 3 | g.48467755G>C | CA907743405 | dbSNP | ||
| 3 | g.48467755G= | CA1363031536 | |||
| 3 | g.48467755G>T | CA2665603781 | gnomAD v4 | ||
| 3 | g.48467756A= | CA1363031537 | |||
| 3 | g.48467756A>G | CA1363031538 | dbSNP gnomAD v3 gnomAD v4 | ||
| 3 | g.48467756A>T | CA1047679324 | dbSNP gnomAD v3 gnomAD v4 | ||
| 3 | g.48467757T>C | CA2756154319 | |||
| 3 | g.48467757_48467758insACA | CA2756154320 | |||
| 3 | g.48467757_48467758insAGA | CA2756154321 | |||
| 3 | g.48467758G>T | CA2665603784 | gnomAD v4 | ||
| 3 | g.48467759del | CA2665603783 | gnomAD v4 | ||
| 3 | g.48467758_48467759insACT | CA2756154322 | |||
| 3 | g.48467759G>A | CA2665603788 | gnomAD v4 | ||
| 3 | g.48467759G>C | CA2665603786 | gnomAD v4 | ||
| 3 | g.48467759G>T | CA2665603787 | gnomAD v4 | ||
| 3 | g.48467760T>C | CA2665603791 | gnomAD v4 | ||
| 3 | g.48467760T= | CA1363031539 | |||
| 3 | g.48467761C>A | CA2665603793 | gnomAD v4 | ||
| 3 | g.48467762_48467764dup | CA543045067 | dbSNP dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
| 3 | g.48467762A= | CA1363031540 | |||
| 3 | g.48467762A>G | CA73933646 | dbSNP | ||
| 3 | g.48467762_48467763dup | CA2665603795 | gnomAD v4 | ||
| 3 | g.48467763A= | CA1363031541 | |||
| 3 | g.48467763A>C | CA2756154323 | |||
| 3 | g.48467764C>A | CA2665603799 | gnomAD v4 | ||
| 3 | g.48467764C>T | CA2665603797 | gnomAD v4 | ||
| 3 | g.48467766_48467769dup | CA1047679325 | dbSNP gnomAD v3 gnomAD v4 | ||
| 3 | g.48467766_48467769del | CA2665603798 | gnomAD v4 | ||
| 3 | g.48467764_48467765insACA | CA2756154324 | |||
| 3 | g.48467766A>C | CA2665603802 | gnomAD v4 | ||
| 3 | g.48467767T>C | CA2665603803 | gnomAD v4 | ||
| 3 | g.48467767_48467768insA | CA2756154325 | |||
| 3 | g.48467767_48467768insACA | CA2756154327 | |||
| 3 | g.48467768C>A | CA2665603804 | gnomAD v4 | ||
| 3 | g.48467768C>G | CA2665603805 | gnomAD v4 | ||
| 3 | g.48467769_48467775del | CA2756154326 | |||
| 3 | g.48467769T>A | CA2756154328 | |||
| 3 | g.48467769T>G | CA907743417 | dbSNP gnomAD v3 gnomAD v4 | ||
| 3 | g.48467769T= | CA1363031542 | |||
| 3 | g.48467769_48467770insACA | CA2756154329 | |||
| 3 | g.48467772G>T | CA2665603807 | gnomAD v4 | ||
| 3 | g.48467773C>A | CA2665603814 | gnomAD v4 | ||
| 3 | g.48467773C= | CA1363031543 | |||
| 3 | g.48467773C>G | CA73933647 | dbSNP gnomAD v3 gnomAD v4 | ||
| 3 | g.48467773C>T | CA2665603819 | gnomAD v4 | ||
| 3 | g.48467775del | CA2665603810 | gnomAD v4 | ||
| 3 | g.48467774C>A | CA2665603826 | gnomAD v4 | ||
| 3 | g.48467775C= | CA1363031544 | |||
| 3 | g.48467775C>G | CA2665603830 | gnomAD v4 | ||
| 3 | g.48467775C>T | CA73933648 | dbSNP gnomAD v3 gnomAD v4 | ||
| 3 | g.48467776A= | CA1363031545 | |||
| 3 | g.48467776A>C | CA2665603837 | gnomAD v4 | ||
| 3 | g.48467776A>G | CA73933658 | dbSNP dbSNP dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
| 3 | g.48467777G>A | CA2665603843 | gnomAD v4 | ||
| 3 | g.48467777G>T | CA2665603847 | gnomAD v4 | ||
| 3 | g.48467777_48467778insAGA | CA2756154332 | |||
| 3 | g.48467778T>A | CA2665603850 | gnomAD v4 | ||
| 3 | g.48467778T>G | CA2665603851 | gnomAD v4 | ||
| 3 | g.48467778_48467781del | CA2756154334 | |||
| 3 | g.48467780A>G | CA2665603852 | gnomAD v4 | ||
| 3 | g.48467781A= | CA1363031546 | |||
| 3 | g.48467781A>T | CA907743423 | dbSNP gnomAD v3 gnomAD v4 | ||
| 3 | g.48467781_48467783dup | CA2665603854 | gnomAD v4 | ||
| 3 | g.48467782A>G | CA2665603858 | gnomAD v4 | ||
| 3 | g.48467783G>T | CA2665603861 | gnomAD v4 | ||
| 3 | g.48467784T>A | CA2665603865 | gnomAD v4 | ||
| 3 | g.48467784T>C | CA907743424 | dbSNP gnomAD v4 | ||
| 3 | g.48467784T>G | CA2665603863 | gnomAD v4 | ||
| 3 | g.48467784T= | CA1363031547 | |||
| 3 | g.48467785A>G | CA2665603868 | gnomAD v4 | ||
| 3 | g.48467786G>A | CA2665603869 | gnomAD v4 | ||
| 3 | g.48467786G>T | CA2665603870 | gnomAD v4 | ||
| 3 | g.48467787G>A | CA73933661 | dbSNP gnomAD v3 gnomAD v4 | ||
| 3 | g.48467787G= | CA1363031548 | |||
| 3 | g.48467787G>T | CA2665603872 | gnomAD v4 | ||
| 3 | g.48467788G>A | CA2665603873 | gnomAD v4 | ||
| 3 | g.48467788G>T | CA2665603874 | gnomAD v4 | ||
| 3 | g.48467789A= | CA1363031549 | |||
| 3 | g.48467789A>G | CA1363031550 | dbSNP gnomAD v3 gnomAD v4 | ||
| 3 | g.48467789A>T | CA2665603876 | gnomAD v4 | ||
| 3 | g.48467792del | CA2665603875 | gnomAD v4 | ||
| 3 | g.48467790_48467792del | CA2756154338 | |||
| 3 | g.48467790_48467796del | CA2756154339 | |||
| 3 | g.48467789_48467790insC | CA2665603878 | gnomAD v4 | ||
| 3 | g.48467789_48467790insG | CA2665603880 | gnomAD v4 | ||
| 3 | g.48467790A= | CA1363031551 | |||
| 3 | g.48467790A>G | CA2665603885 | gnomAD v4 | ||
| 3 | g.48467797_48467931del | CA2665603881 | gnomAD v4 | ||
| 3 | g.48467790_48467791insGACAC | CA916887668 | dbSNP | ||
| 3 | g.48467791_48467792insCACA | CA2665603908 | gnomAD v4 | ||
| 3 | g.48467791_48467792insCCACA | CA2665603906 | gnomAD v4 | ||
| 3 | g.48467791_48467792insTCACA | CA2665603888 | gnomAD v4 | ||
| 3 | g.48467791_48467793delinsAAC | CA1363031552 | |||
| 3 | g.48467792_48467796dup | CA73933666 | ClinVar dbSNP dbSNP dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
| 3 | g.48467792A>G | CA2665603918 | gnomAD v4 | ||
| 3 | g.48467795_48467796del | CA1363031553 | dbSNP gnomAD v4 | ||
| 3 | g.48467793C>A | CA2665603922 | gnomAD v4 | ||
| 3 | g.48467793_48467795del | CA2756154346 | |||
| 3 | g.48467795_48467798del | CA2665603924 | gnomAD v4 | ||
| 3 | g.48467794_48467795insAC | CA2665603926 | gnomAD v4 | ||
| 3 | g.48467795C>A | CA2665603929 | gnomAD v4 | ||
| 3 | g.48467795C= | CA1363031554 | |||
| 3 | g.48467795C>G | CA1363031555 | dbSNP gnomAD v4 | ||
| 3 | g.48467795C>T | CA2756154348 | |||
| 3 | g.48467796_48467797insACCCA | CA2665603927 | gnomAD v4 | ||
| 3 | g.48467796dup | CA2665603931 | gnomAD v4 | ||
| 3 | g.48467796_48467797insACACC | CA2665603932 | gnomAD v4 | ||
| 3 | g.48467797G>A | CA2665603933 | gnomAD v4 | ||
| 3 | g.48467797G>C | CA2665603934 | gnomAD v4 | ||
| 3 | g.48467798A>G | CA2665603936 | SHISA5 | c.*1309T>C (n.*1309T>C) c.*1540T>C (n.*1540T>C) | gnomAD v4 |
| 3 | g.48467798A>T | CA2756154350 | SHISA5 | c.*1309T>A (n.*1309T>A) c.*1540T>A (n.*1540T>A) | |
| 3 | g.48467802G>A | CA2665603942 | SHISA5 | c.*1305C>T (n.*1305C>T) c.*1536C>T (n.*1536C>T) | dbSNP gnomAD v4 |
| 3 | g.48467802G>T | CA2665603939 | SHISA5 | c.*1305C>A (n.*1305C>A) c.*1536C>A (n.*1536C>A) | gnomAD v4 |
| 3 | g.48467803C>A | CA2665603943 | SHISA5 | c.*1304G>T (n.*1304G>T) c.*1535G>T (n.*1535G>T) | gnomAD v4 |
| 3 | g.48467803C>T | CA2665603947 | SHISA5 | c.*1304G>A (n.*1304G>A) c.*1535G>A (n.*1535G>A) | gnomAD v4 |
| 3 | g.48467805del | CA2665603950 | SHISA5 | c.*1304del (n.*1304del) c.*1535del (n.*1535del) | gnomAD v4 |
| 3 | g.48467804C>A | CA2665603953 | SHISA5 | c.*1303G>T (n.*1303G>T) c.*1534G>T (n.*1534G>T) | gnomAD v4 |
| 3 | g.48467805C>A | CA2665603954 | SHISA5 | c.*1302G>T (n.*1302G>T) c.*1533G>T (n.*1533G>T) | gnomAD v4 |
| 3 | g.48467805C>T | CA2665603956 | SHISA5 | c.*1302G>A (n.*1302G>A) c.*1533G>A (n.*1533G>A) | gnomAD v4 |
| 3 | g.48467806A>T | CA2665603958 | SHISA5 | c.*1301T>A (n.*1301T>A) c.*1532T>A (n.*1532T>A) | gnomAD v4 |
| 3 | g.48467807A= | CA1363031556 | SHISA5 | c.*1300T= (n.*1300T=) c.*1531T= (n.*1531T=) | |
| 3 | g.48467807A>C | CA2665603962 | SHISA5 | c.*1300T>G (n.*1300T>G) c.*1531T>G (n.*1531T>G) | gnomAD v4 |
| 3 | g.48467807A>G | CA543045070 | SHISA5 | c.*1300T>C (n.*1300T>C) c.*1531T>C (n.*1531T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48467808A>C | CA2665603978 | SHISA5 | c.*1299T>G (n.*1299T>G) c.*1530T>G (n.*1530T>G) | gnomAD v4 |
| 3 | g.48467808A>G | CA2665603979 | SHISA5 | c.*1299T>C (n.*1299T>C) c.*1530T>C (n.*1530T>C) | gnomAD v4 |
| 3 | g.48467813_48467816del | CA2665603967 | SHISA5 | c.*1296_*1299del (n.*1296_*1299del) c.*1527_*1530del (n.*1527_*1530del) | gnomAD v4 |
| 3 | g.48467809T>C | CA1047679332 | SHISA5 | c.*1298A>G (n.*1298A>G) c.*1529A>G (n.*1529A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.48467809T>G | CA2665603984 | SHISA5 | c.*1298A>C (n.*1298A>C) c.*1529A>C (n.*1529A>C) | gnomAD v4 |
| 3 | g.48467809T= | CA1363031557 | SHISA5 | c.*1298A= (n.*1298A=) c.*1529A= (n.*1529A=) | |
| 3 | g.48467810G>A | CA2756154352 | SHISA5 | c.*1297C>T (n.*1297C>T) c.*1528C>T (n.*1528C>T) | |
| 3 | g.48467810G>T | CA2665603987 | SHISA5 | c.*1297C>A (n.*1297C>A) c.*1528C>A (n.*1528C>A) | gnomAD v4 |
| 3 | g.48467811G>A | CA73933668 | SHISA5 | c.*1296C>T (n.*1296C>T) c.*1527C>T (n.*1527C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48467811G= | CA1363031558 | SHISA5 | c.*1296C= (n.*1296C=) c.*1527C= (n.*1527C=) | |
| 3 | g.48467811G>T | CA2665603989 | SHISA5 | c.*1296C>A (n.*1296C>A) c.*1527C>A (n.*1527C>A) | gnomAD v4 |
| 3 | g.48467813T>A | CA2665603991 | SHISA5 | c.*1294A>T (n.*1294A>T) c.*1525A>T (n.*1525A>T) | gnomAD v4 |
| 3 | g.48467813T>C | CA2665603992 | SHISA5 | c.*1294A>G (n.*1294A>G) c.*1525A>G (n.*1525A>G) | gnomAD v4 |
| 3 | g.48467813_48467814delinsTG | CA1363031559 | SHISA5 | c.*1293_*1294delinsCA (n.*1293_*1294delinsCA) c.*1524_*1525delinsCA (n.*1524_*1525delinsCA) | |
| 3 | g.48467814G>A | CA2665603994 | SHISA5 | c.*1293C>T (n.*1293C>T) c.*1524C>T (n.*1524C>T) | gnomAD v4 |
| 3 | g.48467815del | CA907743445 | SHISA5 | c.*1293del (n.*1293del) c.*1524del (n.*1524del) | dbSNP gnomAD v3 gnomAD v4 |