Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80108679_80116948del | CA913184754 | GAA | c.1195-18_2190-20del c.1195-18_*328-20del | |
17 | g.80108678_80116951del | CA658795244 | GAA | c.1195-19_2190-17del c.1195-19_*328-17del | ClinVar |
17 | g.80110677C>A | CA2640288088 | GAA | c.1438-50C>A (n.1438-50C>A) | gnomAD v4 |
17 | g.80110677C= | CA2277814015 | GAA | c.1438-50C= (n.1438-50C=) | |
17 | g.80110677C>G | CA627699564 | GAA | c.1438-50C>G (n.1438-50C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110677C>T | CA2640288091 | GAA | c.1438-50C>T (n.1438-50C>T) | gnomAD v4 |
17 | g.80110677_80110678del | CA2576414093 | GAA | c.1438-50_1438-49del (n.1438-50_1438-49del) | |
17 | g.80110679G>A | CA627699566 | GAA | c.1438-48G>A (n.1438-48G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110679G>C | CA627699567 | GAA | c.1438-48G>C (n.1438-48G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110679G= | CA2277814016 | GAA | c.1438-48G= (n.1438-48G=) | |
17 | g.80110679G>T | CA2576414094 | GAA | c.1438-48G>T (n.1438-48G>T) | gnomAD v4 |
17 | g.80110680G>A | CA627699568 | GAA | c.1438-47G>A (n.1438-47G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110680G= | CA2277814017 | GAA | c.1438-47G= (n.1438-47G=) | |
17 | g.80110680G>T | CA656889765 | GAA | c.1438-47G>T (n.1438-47G>T) | COSMIC |
17 | g.80110680_80110681delinsGC | CA2277814018 | GAA | c.1438-47_1438-46delinsGC (n.1438-47_1438-46delinsGC) | |
17 | g.80110681C>A | CA2640288105 | GAA | c.1438-46C>A (n.1438-46C>A) | gnomAD v4 |
17 | g.80110681C= | CA2277814019 | GAA | c.1438-46C= (n.1438-46C=) | |
17 | g.80110681C>G | CA8815334 | GAA | c.1438-46C>G (n.1438-46C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80110681C>T | CA2576414095 | GAA | c.1438-46C>T (n.1438-46C>T) | |
17 | g.80110683dup | CA986707198 | GAA | c.1438-44dup (n.1438-44dup) | gnomAD v3 gnomAD v4 |
17 | g.80110683del | CA775514289 | GAA | c.1438-44del (n.1438-44del) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110682C= | CA2277814020 | GAA | c.1438-45C= (n.1438-45C=) | |
17 | g.80110682C>T | CA2277814021 | GAA | c.1438-45C>T (n.1438-45C>T) | dbSNP |
17 | g.80110685G>C | CA2576414096 | GAA | c.1438-42G>C (n.1438-42G>C) | |
17 | g.80110685G>T | CA2576414097 | GAA | c.1438-42G>T (n.1438-42G>T) | |
17 | g.80110687del | CA2640288109 | GAA | c.1438-40del (n.1438-40del) | gnomAD v4 |
17 | g.80110686G>A | CA8815336 | GAA | c.1438-41G>A (n.1438-41G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80110686G>C | CA8815335 | GAA | c.1438-41G>C (n.1438-41G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80110686G= | CA2277814022 | GAA | c.1438-41G= (n.1438-41G=) | |
17 | g.80110687G>A | CA2559650578 | GAA | c.1438-40G>A (n.1438-40G>A) | gnomAD v4 |
17 | g.80110687G= | CA2277814023 | GAA | c.1438-40G= (n.1438-40G=) | |
17 | g.80110687G>T | CA627699571 | GAA | c.1438-40G>T (n.1438-40G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110688T>C | CA2640288117 | GAA | c.1438-39T>C (n.1438-39T>C) | gnomAD v4 |
17 | g.80110688T>G | CA2277814024 | GAA | c.1438-39T>G (n.1438-39T>G) | dbSNP |
17 | g.80110688T= | CA2277814025 | GAA | c.1438-39T= (n.1438-39T=) | |
17 | g.80110689G>T | CA2640288120 | GAA | c.1438-38G>T (n.1438-38G>T) | gnomAD v4 |
17 | g.80110692del | CA2576414098 | GAA | c.1438-35del (n.1438-35del) | gnomAD v4 |
17 | g.80110690G>T | CA2640288121 | GAA | c.1438-37G>T (n.1438-37G>T) | gnomAD v4 |
17 | g.80110691G>A | CA8815337 | GAA | c.1438-36G>A (n.1438-36G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80110691G>C | CA2576414099 | GAA | c.1438-36G>C (n.1438-36G>C) | |
17 | g.80110691G= | CA2277814026 | GAA | c.1438-36G= (n.1438-36G=) | |
17 | g.80110692G>A | CA2640288127 | GAA | c.1438-35G>A (n.1438-35G>A) | gnomAD v4 |
17 | g.80110692G>C | CA2640288129 | GAA | c.1438-35G>C (n.1438-35G>C) | gnomAD v4 |
17 | g.80110692G>T | CA2832366071 | GAA | c.1438-35G>T (n.1438-35G>T) | |
17 | g.80110692_80110693delinsGC | CA2277814027 | GAA | c.1438-35_1438-34delinsGC (n.1438-35_1438-34delinsGC) | |
17 | g.80110693C>A | CA2640288132 | GAA | c.1438-34C>A (n.1438-34C>A) | gnomAD v4 |
17 | g.80110694del | CA8815338 | GAA | c.1438-33del (n.1438-33del) | dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.80110694C= | CA2277814028 | GAA | c.1438-33C= (n.1438-33C=) | |
17 | g.80110694C>T | CA8815339 | GAA | c.1438-33C>T (n.1438-33C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110695G>A | CA8815340 | GAA | c.1438-32G>A (n.1438-32G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110695G= | CA2277814029 | GAA | c.1438-32G= (n.1438-32G=) | |
17 | g.80110696G>C | CA2277814031 | GAA | c.1438-31G>C (n.1438-31G>C) | dbSNP gnomAD v4 |
17 | g.80110696G= | CA2277814030 | GAA | c.1438-31G= (n.1438-31G=) | |
17 | g.80110697G>T | CA656889770 | GAA | c.1438-30G>T (n.1438-30G>T) | COSMIC |
17 | g.80110698T>A | CA2640288141 | GAA | c.1438-29T>A (n.1438-29T>A) | gnomAD v4 |
17 | g.80110698T>C | CA8815341 | GAA | c.1438-29T>C (n.1438-29T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80110698T= | CA2277814032 | GAA | c.1438-29T= (n.1438-29T=) | |
17 | g.80110699C>A | CA2640288149 | GAA | c.1438-28C>A (n.1438-28C>A) | gnomAD v4 |
17 | g.80110699C>T | CA2810585769 | GAA | c.1438-28C>T (n.1438-28C>T) | |
17 | g.80110702C= | CA2277814033 | GAA | c.1438-25C= (n.1438-25C=) | |
17 | g.80110702C>T | CA2277814034 | GAA | c.1438-25C>T (n.1438-25C>T) | dbSNP |
17 | g.80110703C>A | CA2640288152 | GAA | c.1438-24C>A (n.1438-24C>A) | gnomAD v4 |
17 | g.80110704C>A | CA2640288157 | GAA | c.1438-23C>A (n.1438-23C>A) | gnomAD v4 |
17 | g.80110704C= | CA2277814035 | GAA | c.1438-23C= (n.1438-23C=) | |
17 | g.80110704C>T | CA775514304 | GAA | c.1438-23C>T (n.1438-23C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110705A>G | CA2640288158 | GAA | c.1438-22A>G (n.1438-22A>G) | gnomAD v4 |
17 | g.80110706C>A | CA627699573 | GAA | c.1438-21C>A (n.1438-21C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110706C= | CA2277814036 | GAA | c.1438-21C= (n.1438-21C=) | |
17 | g.80110706C>T | CA2640288161 | GAA | c.1438-21C>T (n.1438-21C>T) | gnomAD v4 |
17 | g.80110708G>A | CA2576414100 | GAA | c.1438-19G>A (n.1438-19G>A) | ClinVar gnomAD v4 |
17 | g.80110708G>C | CA145756 | GAA | c.1438-19G>C (n.1438-19G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110708G= | CA2277814037 | GAA | c.1438-19G= (n.1438-19G=) | |
17 | g.80110708G>T | CA2581285033 | GAA | c.1438-19G>T (n.1438-19G>T) | |
17 | g.80110708_80110723delinsGCAGCCTCTCGTTGTC | CA2277814038 | GAA | c.1438-19_1438-4delinsGCAGCCTCTCGTTGTC (n.1438-19_1438-4delinsGCAGCCTCTCGTTGTC) | |
17 | g.80110709C= | CA2277814039 | GAA | c.1438-18C= (n.1438-18C=) | |
17 | g.80110709C>T | CA8815342 | GAA | c.1438-18C>T (n.1438-18C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80110712_80110726del | CA913191007 | GAA | c.1438-15_1438-1del (n.1438-15_1438-1del) | ClinVar dbSNP |
17 | g.80110710A= | CA2277814040 | GAA | c.1438-17A= (n.1438-17A=) | |
17 | g.80110710A>C | CA2810585777 | GAA | c.1438-17A>C (n.1438-17A>C) | |
17 | g.80110710A>G | CA294894799 | GAA | c.1438-17A>G (n.1438-17A>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110712C>A | CA2640288173 | GAA | c.1438-15C>A (n.1438-15C>A) | gnomAD v4 |
17 | g.80110712C= | CA2277814041 | GAA | c.1438-15C= (n.1438-15C=) | |
17 | g.80110712C>T | CA294894801 | GAA | c.1438-15C>T (n.1438-15C>T) | dbSNP |
17 | g.80110713C= | CA2277814042 | GAA | c.1438-14C= (n.1438-14C=) | |
17 | g.80110713C>G | CA2277814043 | GAA | c.1438-14C>G (n.1438-14C>G) | dbSNP |
17 | g.80110713C>T | CA2640288176 | GAA | c.1438-14C>T (n.1438-14C>T) | ClinVar gnomAD v4 |
17 | g.80110714T>C | CA2277814044 | GAA | c.1438-13T>C (n.1438-13T>C) | ClinVar dbSNP gnomAD v4 |
17 | g.80110714T= | CA2277814045 | GAA | c.1438-13T= (n.1438-13T=) | |
17 | g.80110715C= | CA2277814046 | GAA | c.1438-12C= (n.1438-12C=) | |
17 | g.80110715C>G | CA627699574 | GAA | c.1438-12C>G (n.1438-12C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110715C>T | CA2277814047 | GAA | c.1438-12C>T (n.1438-12C>T) | ClinVar dbSNP gnomAD v4 |
17 | g.80110716T>A | CA8815343 | GAA | c.1438-11T>A (n.1438-11T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110716T= | CA2277814048 | GAA | c.1438-11T= (n.1438-11T=) | |
17 | g.80110717C>A | CA2640288193 | GAA | c.1438-10C>A (n.1438-10C>A) | gnomAD v4 |
17 | g.80110717C= | CA2277814050 | GAA | c.1438-10C= (n.1438-10C=) | |
17 | g.80110717C>G | CA2499225011 | GAA | c.1438-10C>G (n.1438-10C>G) | ClinVar dbSNP |
17 | g.80110717C>T | CA294894802 | GAA | c.1438-10C>T (n.1438-10C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110717dup | CA2640288192 | GAA | c.1438-10dup (n.1438-10dup) | gnomAD v4 |
17 | g.80110717_80110720delinsCGTT | CA2277814049 | GAA | c.1438-10_1438-7delinsCGTT (n.1438-10_1438-7delinsCGTT) | |
17 | g.80110718G>A | CA8815345 | GAA | c.1438-9G>A (n.1438-9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110718G>C | CA2697555218 | GAA | c.1438-9G>C (n.1438-9G>C) | ClinVar |
17 | g.80110718G= | CA2277814051 | GAA | c.1438-9G= (n.1438-9G=) | |
17 | g.80110718G>T | CA2573154970 | GAA | c.1438-9G>T (n.1438-9G>T) | ClinVar dbSNP gnomAD v4 |
17 | g.80110720_80110722del | CA8815344 | GAA | c.1438-7_1438-5del (n.1438-7_1438-5del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110719T>A | CA2640288209 | GAA | c.1438-8T>A (n.1438-8T>A) | gnomAD v4 |
17 | g.80110720T>C | CA775514322 | GAA | c.1438-7T>C (n.1438-7T>C) | ClinVar dbSNP gnomAD v4 |
17 | g.80110720T= | CA2277814052 | GAA | c.1438-7T= (n.1438-7T=) | |
17 | g.80110721G>A | CA775514323 | GAA | c.1438-6G>A (n.1438-6G>A) | dbSNP |
17 | g.80110721G>C | CA2573154972 | GAA | c.1438-6G>C (n.1438-6G>C) | ClinVar dbSNP |
17 | g.80110721G= | CA2277814053 | GAA | c.1438-6G= (n.1438-6G=) | |
17 | g.80110724C= | CA2277814054 | GAA | c.1438-3C= (n.1438-3C=) | |
17 | g.80110724C>G | CA986707233 | GAA | c.1438-3C>G (n.1438-3C>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110725A= | CA2277814055 | GAA | c.1438-2A= (n.1438-2A=) | |
17 | g.80110725A>C | CA401366753 | GAA | c.1438-2A>C (n.1438-2A>C) | ClinVar dbSNP |
17 | g.80110725A>G | CA401366755 | GAA | c.1438-2A>G (n.1438-2A>G) | ClinVar dbSNP gnomAD v4 |
17 | g.80110725A>T | CA401366756 | GAA | c.1438-2A>T (n.1438-2A>T) | |
17 | g.80110726G>A | CA401366757 | GAA | c.1438-1G>A (n.1438-1G>A) | ClinVar |
17 | g.80110726G>C | CA274472 | GAA | c.1438-1G>C (n.1438-1G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110726G= | CA2277814056 | GAA | c.1438-1G= (n.1438-1G=) | |
17 | g.80110726G>T | CA8815346 | GAA | c.1438-1G>T (n.1438-1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110727G>A | CA8815347 | GAA | c.1438G>A (p.Val480Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110727G>C | CA401366761 | GAA | c.1438G>C (p.Val480Leu) | dbSNP gnomAD v4 |
17 | g.80110727G= | CA2277814057 | GAA | c.1438G= (p.Val480=) | |
17 | g.80110727G>T | CA401366763 | GAA | c.1438G>T (p.Val480Leu) | |
17 | g.80110728T>A | CA401366766 | GAA | c.1439T>A (p.Val480Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110728T>C | CA401366767 | GAA | c.1439T>C (p.Val480Ala) | ClinVar dbSNP gnomAD v4 |
17 | g.80110728T>G | CA401366768 | GAA | c.1439T>G (p.Val480Gly) | |
17 | g.80110728T= | CA2277814058 | GAA | c.1439T= (p.Val480=) | |
17 | g.80110729A= | CA2277814059 | GAA | c.1440A= (p.Val480=) | |
17 | g.80110729A>C | CA502178523 | GAA | c.1440A>C (p.Val480=) | |
17 | g.80110729A>G | CA502178521 | GAA | c.1440A>G (p.Val480=) | ClinVar dbSNP gnomAD v4 |
17 | g.80110729A>T | CA502178522 | GAA | c.1440A>T (p.Val480=) | |
17 | g.80110729_80110730delinsAT | CA2277814060 | GAA | c.1440_1441delinsAT (p.Val480=) | |
17 | g.80110730del | CA627699575 | GAA | c.1441del (p.Trp481GlyfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110730T>A | CA401366772 | GAA | c.1441T>A (p.Trp481Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110730T>C | CA274247 | GAA | c.1441T>C (p.Trp481Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110730T>G | CA401366771 | GAA | c.1441T>G (p.Trp481Gly) | |
17 | g.80110730T= | CA2277814061 | GAA | c.1441T= (p.Trp481=) | |
17 | g.80110731G>A | CA401366775 | GAA | c.1442G>A (p.Trp481Ter) | |
17 | g.80110731G>C | CA401366777 | GAA | c.1442G>C (p.Trp481Ser) | |
17 | g.80110731G>T | CA401366778 | GAA | c.1442G>T (p.Trp481Leu) | |
17 | g.80110733_80110737del | CA2695227092 | GAA | c.1444_1448del (p.Pro482ValfsTer22) | |
17 | g.80110732G>A | CA401366781 | GAA | c.1443G>A (p.Trp481Ter) | ClinVar dbSNP |
17 | g.80110732G>C | CA401366783 | GAA | c.1443G>C (p.Trp481Cys) | |
17 | g.80110732G>T | CA401366784 | GAA | c.1443G>T (p.Trp481Cys) | |
17 | g.80110733C>A | CA401366787 | GAA | c.1444C>A (p.Pro482Thr) | |
17 | g.80110733C>G | CA401366788 | GAA | c.1444C>G (p.Pro482Ala) | |
17 | g.80110733C>T | CA401366790 | GAA | c.1444C>T (p.Pro482Ser) | |
17 | g.80110734C>A | CA401366792 | GAA | c.1445C>A (p.Pro482His) | |
17 | g.80110734C= | CA2277814062 | GAA | c.1445C= (p.Pro482=) | |
17 | g.80110734C>G | CA401366794 | GAA | c.1445C>G (p.Pro482Arg) | ClinVar dbSNP |
17 | g.80110734C>T | CA401366796 | GAA | c.1445C>T (p.Pro482Leu) | ClinVar dbSNP gnomAD v4 |
17 | g.80110735C>A | CA502178524 | GAA | c.1446C>A (p.Pro482=) | |
17 | g.80110735C= | CA2277814063 | GAA | c.1446C= (p.Pro482=) | |
17 | g.80110735C>G | CA502178525 | GAA | c.1446C>G (p.Pro482=) | |
17 | g.80110735C>T | CA8815348 | GAA | c.1446C>T (p.Pro482=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110736G>A | CA8815349 | GAA | c.1447G>A (p.Gly483Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110736G>C | CA401366800 | GAA | c.1447G>C (p.Gly483Arg) | |
17 | g.80110736G= | CA2277814064 | GAA | c.1447G= (p.Gly483=) | |
17 | g.80110736G>T | CA401366801 | GAA | c.1447G>T (p.Gly483Trp) | COSMIC |
17 | g.80110737G>A | CA401366804 | GAA | c.1448G>A (p.Gly483Glu) | |
17 | g.80110737G>C | CA401366805 | GAA | c.1448G>C (p.Gly483Ala) | |
17 | g.80110737G= | CA2277814065 | GAA | c.1448G= (p.Gly483=) | |
17 | g.80110737G>T | CA401366807 | GAA | c.1448G>T (p.Gly483Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110738G>A | CA502178526 | GAA | c.1449G>A (p.Gly483=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110738G>C | CA502178527 | GAA | c.1449G>C (p.Gly483=) | |
17 | g.80110738G= | CA2277814066 | GAA | c.1449G= (p.Gly483=) | |
17 | g.80110738G>T | CA502178528 | GAA | c.1449G>T (p.Gly483=) | |
17 | g.80110739T>A | CA401366813 | GAA | c.1450T>A (p.Ser484Thr) | |
17 | g.80110739T>C | CA401366811 | GAA | c.1450T>C (p.Ser484Pro) | gnomAD v4 |
17 | g.80110739T>G | CA401366810 | GAA | c.1450T>G (p.Ser484Ala) | dbSNP |
17 | g.80110739T= | CA2277814067 | GAA | c.1450T= (p.Ser484=) | |
17 | g.80110740C>A | CA401366815 | GAA | c.1451C>A (p.Ser484Tyr) | |
17 | g.80110740C= | CA2277814068 | GAA | c.1451C= (p.Ser484=) | |
17 | g.80110740C>G | CA401366817 | GAA | c.1451C>G (p.Ser484Cys) | dbSNP gnomAD v2 |
17 | g.80110740C>T | CA401366818 | GAA | c.1451C>T (p.Ser484Phe) | |
17 | g.80110741dup | CA775514379 | GAA | c.1452dup (p.Thr485HisfsTer21) | dbSNP |
17 | g.80110741C>A | CA502178529 | GAA | c.1452C>A (p.Ser484=) | |
17 | g.80110741C>G | CA502178530 | GAA | c.1452C>G (p.Ser484=) | |
17 | g.80110741C>T | CA502178531 | GAA | c.1452C>T (p.Ser484=) | |
17 | g.80110742A= | CA2277814069 | GAA | c.1453A= (p.Thr485=) | |
17 | g.80110742A>C | CA401366821 | GAA | c.1453A>C (p.Thr485Pro) | ClinVar dbSNP |
17 | g.80110742A>G | CA401366822 | GAA | c.1453A>G (p.Thr485Ala) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110742A>T | CA401366824 | GAA | c.1453A>T (p.Thr485Ser) | |
17 | g.80110745_80110757del | CA645369127 | GAA | c.1456_1468del (p.Ala486SerfsTer30) | |
17 | g.80110743C>A | CA401366826 | GAA | c.1454C>A (p.Thr485Asn) | |
17 | g.80110743C>G | CA401366830 | GAA | c.1454C>G (p.Thr485Ser) | gnomAD v4 |
17 | g.80110743C>T | CA401366828 | GAA | c.1454C>T (p.Thr485Ile) | ClinVar dbSNP |
17 | g.80110743_80110744insGGCC | CA2640288297 | GAA | c.1454_1455insGGCC (p.Phe487CysfsTer20) | gnomAD v4 |
17 | g.80110744T>A | CA502178532 | GAA | c.1455T>A (p.Thr485=) | |
17 | g.80110744T>C | CA502178533 | GAA | c.1455T>C (p.Thr485=) | ClinVar dbSNP gnomAD v4 |
17 | g.80110744T>G | CA8815350 | GAA | c.1455T>G (p.Thr485=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110744T= | CA2277814070 | GAA | c.1455T= (p.Thr485=) | |
17 | g.80110744_80110745insTCCCCGACTTCACC | CA2640288313 | GAA | c.1455_1456insTCCCCGACTTCACC (p.Ala486SerfsTer?) | gnomAD v4 |
17 | g.80110745G>A | CA401366833 | GAA | c.1456G>A (p.Ala486Thr) | ClinVar dbSNP |
17 | g.80110745G>C | CA401366835 | GAA | c.1456G>C (p.Ala486Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110745G= | CA2277814071 | GAA | c.1456G= (p.Ala486=) | |
17 | g.80110745G>T | CA401366836 | GAA | c.1456G>T (p.Ala486Ser) | ClinVar dbSNP gnomAD v2 |
17 | g.80110745_80110756del | CA645369126 | GAA | c.1456_1467del (p.Ala486_Asp489del) | |
17 | g.80110746C>A | CA401366839 | GAA | c.1457C>A (p.Ala486Asp) | |
17 | g.80110746C= | CA2277814072 | GAA | c.1457C= (p.Ala486=) | |
17 | g.80110746C>G | CA401366841 | GAA | c.1457C>G (p.Ala486Gly) | |
17 | g.80110746C>T | CA401366842 | GAA | c.1457C>T (p.Ala486Val) | ClinVar dbSNP gnomAD v4 |
17 | g.80110747del | CA2640288322 | GAA | c.1458del (p.Phe487SerfsTer?) | gnomAD v4 |
17 | g.80110747C>A | CA502178534 | GAA | c.1458C>A (p.Ala486=) | |
17 | g.80110747C= | CA2277814073 | GAA | c.1458C= (p.Ala486=) | |
17 | g.80110747C>G | CA502178535 | GAA | c.1458C>G (p.Ala486=) | |
17 | g.80110747C>T | CA294894863 | GAA | c.1458C>T (p.Ala486=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.80110748T>A | CA401366844 | GAA | c.1459T>A (p.Phe487Ile) | |
17 | g.80110748T>C | CA401366846 | GAA | c.1459T>C (p.Phe487Leu) | |
17 | g.80110748T>G | CA401366848 | GAA | c.1459T>G (p.Phe487Val) | gnomAD v4 |
17 | g.80110749T>A | CA401366853 | GAA | c.1460T>A (p.Phe487Tyr) | |
17 | g.80110749T>C | CA401366851 | GAA | c.1460T>C (p.Phe487Ser) | gnomAD v4 |
17 | g.80110749T>G | CA401366850 | GAA | c.1460T>G (p.Phe487Cys) | |
17 | g.80110749T= | CA2277814074 | GAA | c.1460T= (p.Phe487=) | |
17 | g.80110750C>A | CA401366854 | GAA | c.1461C>A (p.Phe487Leu) | |
17 | g.80110750C>G | CA401366857 | GAA | c.1461C>G (p.Phe487Leu) | ClinVar |
17 | g.80110750C>T | CA502178536 | GAA | c.1461C>T (p.Phe487=) | ClinVar |
17 | g.80110753dup | CA916082444 | GAA | c.1464dup (p.Asp489ArgfsTer17) | ClinVar dbSNP gnomAD v4 |
17 | g.80110751C>A | CA401366858 | GAA | c.1462C>A (p.Pro488Thr) | |
17 | g.80110751C= | CA2277814075 | GAA | c.1462C= (p.Pro488=) | |
17 | g.80110751C>G | CA8815351 | GAA | c.1462C>G (p.Pro488Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80110751C>T | CA401366859 | GAA | c.1462C>T (p.Pro488Ser) | gnomAD v4 |
17 | g.80110752C>A | CA401366863 | GAA | c.1463C>A (p.Pro488His) | |
17 | g.80110752C>G | CA401366866 | GAA | c.1463C>G (p.Pro488Arg) | |
17 | g.80110752C>T | CA401366865 | GAA | c.1463C>T (p.Pro488Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.80110753C>A | CA502178537 | GAA | c.1464C>A (p.Pro488=) | |
17 | g.80110753C= | CA2277814076 | GAA | c.1464C= (p.Pro488=) | |
17 | g.80110753C>G | CA502178538 | GAA | c.1464C>G (p.Pro488=) | |
17 | g.80110753C>T | CA8815352 | GAA | c.1464C>T (p.Pro488=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110754G>A | CA220390 | GAA | c.1465G>A (p.Asp489Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110754G>C | CA401366870 | GAA | c.1465G>C (p.Asp489His) | |
17 | g.80110754G= | CA2277814077 | GAA | c.1465G= (p.Asp489=) | |
17 | g.80110754G>T | CA401366871 | GAA | c.1465G>T (p.Asp489Tyr) | |
17 | g.80110755A>C | CA401366874 | GAA | c.1466A>C (p.Asp489Ala) | |
17 | g.80110755A>G | CA401366876 | GAA | c.1466A>G (p.Asp489Gly) | ClinVar |
17 | g.80110755A>T | CA401366877 | GAA | c.1466A>T (p.Asp489Val) | |
17 | g.80110756C>A | CA401366879 | GAA | c.1467C>A (p.Asp489Glu) | |
17 | g.80110756C>G | CA401366881 | GAA | c.1467C>G (p.Asp489Glu) | |
17 | g.80110756C>T | CA502178539 | GAA | c.1467C>T (p.Asp489=) | |
17 | g.80110757T>A | CA401366887 | GAA | c.1468T>A (p.Phe490Ile) | |
17 | g.80110757T>C | CA401366885 | GAA | c.1468T>C (p.Phe490Leu) | ClinVar dbSNP gnomAD v4 |
17 | g.80110757T>G | CA401366883 | GAA | c.1468T>G (p.Phe490Val) | |
17 | g.80110758T>A | CA401366889 | GAA | c.1469T>A (p.Phe490Tyr) | |
17 | g.80110758T>C | CA401366891 | GAA | c.1469T>C (p.Phe490Ser) | |
17 | g.80110758T>G | CA401366893 | GAA | c.1469T>G (p.Phe490Cys) | ClinVar |
17 | g.80110759C>A | CA401366895 | GAA | c.1470C>A (p.Phe490Leu) | |
17 | g.80110759C>G | CA401366897 | GAA | c.1470C>G (p.Phe490Leu) | |
17 | g.80110759C>T | CA502178540 | GAA | c.1470C>T (p.Phe490=) | |
17 | g.80110761_80110763del | CA2580095748 | GAA | c.1472_1474del (p.Thr491del) | ClinVar |
17 | g.80110760A>C | CA401366899 | GAA | c.1471A>C (p.Thr491Pro) | |
17 | g.80110760A>G | CA401366900 | GAA | c.1471A>G (p.Thr491Ala) | |
17 | g.80110760A>T | CA401366902 | GAA | c.1471A>T (p.Thr491Ser) | |
17 | g.80110761C>A | CA401366904 | GAA | c.1472C>A (p.Thr491Asn) | |
17 | g.80110761C>G | CA401366905 | GAA | c.1472C>G (p.Thr491Ser) | |
17 | g.80110761C>T | CA401366906 | GAA | c.1472C>T (p.Thr491Ile) | |
17 | g.80110762C>A | CA502178541 | GAA | c.1473C>A (p.Thr491=) | |
17 | g.80110762C>G | CA502178543 | GAA | c.1473C>G (p.Thr491=) | |
17 | g.80110762C>T | CA502178542 | GAA | c.1473C>T (p.Thr491=) | |
17 | g.80110763A>C | CA401366910 | GAA | c.1474A>C (p.Asn492His) | |
17 | g.80110763A>G | CA401366912 | GAA | c.1474A>G (p.Asn492Asp) | gnomAD v4 |
17 | g.80110763A>T | CA401366909 | GAA | c.1474A>T (p.Asn492Tyr) | |
17 | g.80110764A>C | CA401366915 | GAA | c.1475A>C (p.Asn492Thr) | |
17 | g.80110764A>G | CA401366916 | GAA | c.1475A>G (p.Asn492Ser) | gnomAD v4 |
17 | g.80110764A>T | CA401366917 | GAA | c.1475A>T (p.Asn492Ile) | |
17 | g.80110765_80110771dup | CA2695227093 | GAA | c.1476_1482dup (p.Ala495ProfsTer13) | |
17 | g.80110765C>A | CA401366919 | GAA | c.1476C>A (p.Asn492Lys) | |
17 | g.80110765C>G | CA401366921 | GAA | c.1476C>G (p.Asn492Lys) | |
17 | g.80110765C>T | CA502178544 | GAA | c.1476C>T (p.Asn492=) | |
17 | g.80110766C>A | CA401366923 | GAA | c.1477C>A (p.Pro493Thr) | |
17 | g.80110766C= | CA2277814078 | GAA | c.1477C= (p.Pro493=) | |
17 | g.80110766C>G | CA401366924 | GAA | c.1477C>G (p.Pro493Ala) | |
17 | g.80110766C>T | CA401366926 | GAA | c.1477C>T (p.Pro493Ser) | ClinVar dbSNP |
17 | g.80110767C>A | CA401366928 | GAA | c.1478C>A (p.Pro493His) | dbSNP |
17 | g.80110767C= | CA2277814079 | GAA | c.1478C= (p.Pro493=) | |
17 | g.80110767C>G | CA401366930 | GAA | c.1478C>G (p.Pro493Arg) | gnomAD v4 |
17 | g.80110767C>T | CA16608675 | GAA | c.1478C>T (p.Pro493Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110768C>A | CA502178545 | GAA | c.1479C>A (p.Pro493=) | |
17 | g.80110768C>G | CA502178547 | GAA | c.1479C>G (p.Pro493=) | |
17 | g.80110768C>T | CA502178546 | GAA | c.1479C>T (p.Pro493=) | gnomAD v4 |
17 | g.80110769A= | CA2277814080 | GAA | c.1480A= (p.Thr494=) | |
17 | g.80110769A>C | CA401366937 | GAA | c.1480A>C (p.Thr494Pro) | |
17 | g.80110769A>G | CA401366935 | GAA | c.1480A>G (p.Thr494Ala) | |
17 | g.80110769A>T | CA401366933 | GAA | c.1480A>T (p.Thr494Ser) | dbSNP |
17 | g.80110770C>A | CA401366938 | GAA | c.1481C>A (p.Thr494Lys) | gnomAD v4 |
17 | g.80110770C>G | CA401366941 | GAA | c.1481C>G (p.Thr494Arg) | |
17 | g.80110770C>T | CA401366943 | GAA | c.1481C>T (p.Thr494Ile) | gnomAD v4 |
17 | g.80110771A= | CA2277814081 | GAA | c.1482A= (p.Thr494=) | |
17 | g.80110771A>C | CA502178548 | GAA | c.1482A>C (p.Thr494=) | |
17 | g.80110771A>G | CA8815353 | GAA | c.1482A>G (p.Thr494=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110771A>T | CA502178549 | GAA | c.1482A>T (p.Thr494=) | |
17 | g.80110772G>A | CA401366946 | GAA | c.1483G>A (p.Ala495Thr) | dbSNP COSMIC |
17 | g.80110772G>C | CA401366947 | GAA | c.1483G>C (p.Ala495Pro) | |
17 | g.80110772G>T | CA401366950 | GAA | c.1483G>T (p.Ala495Ser) | |
17 | g.80110773C>A | CA401366952 | GAA | c.1484C>A (p.Ala495Asp) | |
17 | g.80110773C= | CA2277814082 | GAA | c.1484C= (p.Ala495=) | |
17 | g.80110773C>G | CA401366954 | GAA | c.1484C>G (p.Ala495Gly) | |
17 | g.80110773C>T | CA401366956 | GAA | c.1484C>T (p.Ala495Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110774C>A | CA502178550 | GAA | c.1485C>A (p.Ala495=) | |
17 | g.80110774C= | CA2277814083 | GAA | c.1485C= (p.Ala495=) | |
17 | g.80110774C>G | CA502178551 | GAA | c.1485C>G (p.Ala495=) | |
17 | g.80110774C>T | CA8815354 | GAA | c.1485C>T (p.Ala495=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80110775C>A | CA401366959 | GAA | c.1486C>A (p.Leu496Met) | |
17 | g.80110775C= | CA2277814084 | GAA | c.1486C= (p.Leu496=) | |
17 | g.80110775C>G | CA401366961 | GAA | c.1486C>G (p.Leu496Val) | |
17 | g.80110775C>T | CA502178552 | GAA | c.1486C>T (p.Leu496=) | ClinVar dbSNP |
17 | g.80110776T>A | CA401366965 | GAA | c.1487T>A (p.Leu496Gln) | |
17 | g.80110776T>C | CA401366967 | GAA | c.1487T>C (p.Leu496Pro) | |
17 | g.80110776T>G | CA401366963 | GAA | c.1487T>G (p.Leu496Arg) | |
17 | g.80110777G>A | CA8815355 | GAA | c.1488G>A (p.Leu496=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110777G>C | CA502178553 | GAA | c.1488G>C (p.Leu496=) | |
17 | g.80110777G= | CA2277814085 | GAA | c.1488G= (p.Leu496=) | |
17 | g.80110777G>T | CA502178554 | GAA | c.1488G>T (p.Leu496=) |