Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.11885838_11885877delCA2617675032ETV6c.1153-88_1153-49del (n.1153-88_1153-49del)
c.1150-88_1150-49del (n.1150-88_1150-49del)
c.1126-88_1126-49del (n.1126-88_1126-49del)
c.889-88_889-49del (n.889-88_889-49del)
c.532-88_532-49del (n.532-88_532-49del)
c.1018-88_1018-49del (n.1018-88_1018-49del)
gnomAD v4
12g.11885869_11885877dupCA2617675045ETV6c.1153-57_1153-49dup (n.1153-57_1153-49dup)
c.1150-57_1150-49dup (n.1150-57_1150-49dup)
c.1126-57_1126-49dup (n.1126-57_1126-49dup)
c.889-57_889-49dup (n.889-57_889-49dup)
c.532-57_532-49dup (n.532-57_532-49dup)
c.1018-57_1018-49dup (n.1018-57_1018-49dup)
gnomAD v4
12g.11885872_11885946delCA2695216093ETV6c.1153-54_1173del
c.1150-54_1170del
c.1126-54_1146del
c.889-54_909del
c.532-54_552del
c.1018-54_1038del
12g.11885877T>CCA2617675054ETV6c.1153-49T>C (n.1153-49T>C)
c.1150-49T>C (n.1150-49T>C)
c.1126-49T>C (n.1126-49T>C)
c.889-49T>C (n.889-49T>C)
c.532-49T>C (n.532-49T>C)
c.1018-49T>C (n.1018-49T>C)
gnomAD v4
12g.11885878C>ACA2617675055ETV6c.1153-48C>A (n.1153-48C>A)
c.1150-48C>A (n.1150-48C>A)
c.1126-48C>A (n.1126-48C>A)
c.889-48C>A (n.889-48C>A)
c.532-48C>A (n.532-48C>A)
c.1018-48C>A (n.1018-48C>A)
gnomAD v4
12g.11885878C>TCA2575169107ETV6c.1153-48C>T (n.1153-48C>T)
c.1150-48C>T (n.1150-48C>T)
c.1126-48C>T (n.1126-48C>T)
c.889-48C>T (n.889-48C>T)
c.532-48C>T (n.532-48C>T)
c.1018-48C>T (n.1018-48C>T)
12g.11885879A>TCA2725554059ETV6c.1153-47A>T (n.1153-47A>T)
c.1150-47A>T (n.1150-47A>T)
c.1126-47A>T (n.1126-47A>T)
c.889-47A>T (n.889-47A>T)
c.532-47A>T (n.532-47A>T)
c.1018-47A>T (n.1018-47A>T)
dbSNP
12g.11885880T>CCA2575169108ETV6c.1153-46T>C (n.1153-46T>C)
c.1150-46T>C (n.1150-46T>C)
c.1126-46T>C (n.1126-46T>C)
c.889-46T>C (n.889-46T>C)
c.532-46T>C (n.532-46T>C)
c.1018-46T>C (n.1018-46T>C)
12g.11885880_11885882delinsTTGCA2016648560ETV6c.1153-46_1153-44delinsTTG (n.1153-46_1153-44delinsTTG)
c.1150-46_1150-44delinsTTG (n.1150-46_1150-44delinsTTG)
c.1126-46_1126-44delinsTTG (n.1126-46_1126-44delinsTTG)
c.889-46_889-44delinsTTG (n.889-46_889-44delinsTTG)
c.532-46_532-44delinsTTG (n.532-46_532-44delinsTTG)
c.1018-46_1018-44delinsTTG (n.1018-46_1018-44delinsTTG)
12g.11885881T>ACA603418298ETV6c.1153-45T>A (n.1153-45T>A)
c.1150-45T>A (n.1150-45T>A)
c.1126-45T>A (n.1126-45T>A)
c.889-45T>A (n.889-45T>A)
c.532-45T>A (n.532-45T>A)
c.1018-45T>A (n.1018-45T>A)
dbSNP gnomAD v2
12g.11885881T>CCA603418299ETV6c.1153-45T>C (n.1153-45T>C)
c.1150-45T>C (n.1150-45T>C)
c.1126-45T>C (n.1126-45T>C)
c.889-45T>C (n.889-45T>C)
c.532-45T>C (n.532-45T>C)
c.1018-45T>C (n.1018-45T>C)
dbSNP gnomAD v2 gnomAD v4
12g.11885881T=CA2016648561ETV6c.1153-45T= (n.1153-45T=)
c.1150-45T= (n.1150-45T=)
c.1126-45T= (n.1126-45T=)
c.889-45T= (n.889-45T=)
c.532-45T= (n.532-45T=)
c.1018-45T= (n.1018-45T=)
12g.11885884_11885885delCA232637420ETV6c.1153-42_1153-41del (n.1153-42_1153-41del)
c.1150-42_1150-41del (n.1150-42_1150-41del)
c.1126-42_1126-41del (n.1126-42_1126-41del)
c.889-42_889-41del (n.889-42_889-41del)
c.532-42_532-41del (n.532-42_532-41del)
c.1018-42_1018-41del (n.1018-42_1018-41del)
dbSNP gnomAD v3 gnomAD v4
12g.11885882G>ACA6454418ETV6c.1153-44G>A (n.1153-44G>A)
c.1150-44G>A (n.1150-44G>A)
c.1126-44G>A (n.1126-44G>A)
c.889-44G>A (n.889-44G>A)
c.532-44G>A (n.532-44G>A)
c.1018-44G>A (n.1018-44G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.11885882G=CA2016648562ETV6c.1153-44G= (n.1153-44G=)
c.1150-44G= (n.1150-44G=)
c.1126-44G= (n.1126-44G=)
c.889-44G= (n.889-44G=)
c.532-44G= (n.532-44G=)
c.1018-44G= (n.1018-44G=)
12g.11885882G>TCA6454417ETV6c.1153-44G>T (n.1153-44G>T)
c.1150-44G>T (n.1150-44G>T)
c.1126-44G>T (n.1126-44G>T)
c.889-44G>T (n.889-44G>T)
c.532-44G>T (n.532-44G>T)
c.1018-44G>T (n.1018-44G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.11885883T>CCA2617675056ETV6c.1153-43T>C (n.1153-43T>C)
c.1150-43T>C (n.1150-43T>C)
c.1126-43T>C (n.1126-43T>C)
c.889-43T>C (n.889-43T>C)
c.532-43T>C (n.532-43T>C)
c.1018-43T>C (n.1018-43T>C)
gnomAD v4
12g.11885883T>GCA2617675057ETV6c.1153-43T>G (n.1153-43T>G)
c.1150-43T>G (n.1150-43T>G)
c.1126-43T>G (n.1126-43T>G)
c.889-43T>G (n.889-43T>G)
c.532-43T>G (n.532-43T>G)
c.1018-43T>G (n.1018-43T>G)
gnomAD v4
12g.11885884G>ACA2725554060ETV6c.1153-42G>A (n.1153-42G>A)
c.1150-42G>A (n.1150-42G>A)
c.1126-42G>A (n.1126-42G>A)
c.889-42G>A (n.889-42G>A)
c.532-42G>A (n.532-42G>A)
c.1018-42G>A (n.1018-42G>A)
dbSNP
12g.11885884G=CA2016648563ETV6c.1153-42G= (n.1153-42G=)
c.1150-42G= (n.1150-42G=)
c.1126-42G= (n.1126-42G=)
c.889-42G= (n.889-42G=)
c.532-42G= (n.532-42G=)
c.1018-42G= (n.1018-42G=)
12g.11885886_11885889dupCA2016648564ETV6c.1153-40_1153-37dup (n.1153-40_1153-37dup)
c.1150-40_1150-37dup (n.1150-40_1150-37dup)
c.1126-40_1126-37dup (n.1126-40_1126-37dup)
c.889-40_889-37dup (n.889-40_889-37dup)
c.532-40_532-37dup (n.532-40_532-37dup)
c.1018-40_1018-37dup (n.1018-40_1018-37dup)
dbSNP
12g.11885886C>ACA2016648565ETV6c.1153-40C>A (n.1153-40C>A)
c.1150-40C>A (n.1150-40C>A)
c.1126-40C>A (n.1126-40C>A)
c.889-40C>A (n.889-40C>A)
c.532-40C>A (n.532-40C>A)
c.1018-40C>A (n.1018-40C>A)
dbSNP gnomAD v4
12g.11885886C=CA2016648566ETV6c.1153-40C= (n.1153-40C=)
c.1150-40C= (n.1150-40C=)
c.1126-40C= (n.1126-40C=)
c.889-40C= (n.889-40C=)
c.532-40C= (n.532-40C=)
c.1018-40C= (n.1018-40C=)
12g.11885887T>ACA944801864ETV6c.1153-39T>A (n.1153-39T>A)
c.1150-39T>A (n.1150-39T>A)
c.1126-39T>A (n.1126-39T>A)
c.889-39T>A (n.889-39T>A)
c.532-39T>A (n.532-39T>A)
c.1018-39T>A (n.1018-39T>A)
dbSNP gnomAD v3 gnomAD v4
12g.11885887T>CCA6454419ETV6c.1153-39T>C (n.1153-39T>C)
c.1150-39T>C (n.1150-39T>C)
c.1126-39T>C (n.1126-39T>C)
c.889-39T>C (n.889-39T>C)
c.532-39T>C (n.532-39T>C)
c.1018-39T>C (n.1018-39T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.11885887T=CA2016648567ETV6c.1153-39T= (n.1153-39T=)
c.1150-39T= (n.1150-39T=)
c.1126-39T= (n.1126-39T=)
c.889-39T= (n.889-39T=)
c.532-39T= (n.532-39T=)
c.1018-39T= (n.1018-39T=)
12g.11885888T>CCA2617675058ETV6c.1153-38T>C (n.1153-38T>C)
c.1150-38T>C (n.1150-38T>C)
c.1126-38T>C (n.1126-38T>C)
c.889-38T>C (n.889-38T>C)
c.532-38T>C (n.532-38T>C)
c.1018-38T>C (n.1018-38T>C)
gnomAD v4
12g.11885888T>GCA603418300ETV6c.1153-38T>G (n.1153-38T>G)
c.1150-38T>G (n.1150-38T>G)
c.1126-38T>G (n.1126-38T>G)
c.889-38T>G (n.889-38T>G)
c.532-38T>G (n.532-38T>G)
c.1018-38T>G (n.1018-38T>G)
dbSNP gnomAD v2
12g.11885888T=CA2016648568ETV6c.1153-38T= (n.1153-38T=)
c.1150-38T= (n.1150-38T=)
c.1126-38T= (n.1126-38T=)
c.889-38T= (n.889-38T=)
c.532-38T= (n.532-38T=)
c.1018-38T= (n.1018-38T=)
12g.11885889T>CCA2016648570ETV6c.1153-37T>C (n.1153-37T>C)
c.1150-37T>C (n.1150-37T>C)
c.1126-37T>C (n.1126-37T>C)
c.889-37T>C (n.889-37T>C)
c.532-37T>C (n.532-37T>C)
c.1018-37T>C (n.1018-37T>C)
dbSNP gnomAD v4
12g.11885889T=CA2016648569ETV6c.1153-37T= (n.1153-37T=)
c.1150-37T= (n.1150-37T=)
c.1126-37T= (n.1126-37T=)
c.889-37T= (n.889-37T=)
c.532-37T= (n.532-37T=)
c.1018-37T= (n.1018-37T=)
12g.11885890G>ACA944801870ETV6c.1153-36G>A (n.1153-36G>A)
c.1150-36G>A (n.1150-36G>A)
c.1126-36G>A (n.1126-36G>A)
c.889-36G>A (n.889-36G>A)
c.532-36G>A (n.532-36G>A)
c.1018-36G>A (n.1018-36G>A)
dbSNP gnomAD v3 gnomAD v4
12g.11885890G=CA2016648571ETV6c.1153-36G= (n.1153-36G=)
c.1150-36G= (n.1150-36G=)
c.1126-36G= (n.1126-36G=)
c.889-36G= (n.889-36G=)
c.532-36G= (n.532-36G=)
c.1018-36G= (n.1018-36G=)
12g.11885892G>ACA603418301ETV6c.1153-34G>A (n.1153-34G>A)
c.1150-34G>A (n.1150-34G>A)
c.1126-34G>A (n.1126-34G>A)
c.889-34G>A (n.889-34G>A)
c.532-34G>A (n.532-34G>A)
c.1018-34G>A (n.1018-34G>A)
dbSNP gnomAD v2 gnomAD v4
12g.11885892G>CCA2617675059ETV6c.1153-34G>C (n.1153-34G>C)
c.1150-34G>C (n.1150-34G>C)
c.1126-34G>C (n.1126-34G>C)
c.889-34G>C (n.889-34G>C)
c.532-34G>C (n.532-34G>C)
c.1018-34G>C (n.1018-34G>C)
gnomAD v4
12g.11885892G=CA2016648572ETV6c.1153-34G= (n.1153-34G=)
c.1150-34G= (n.1150-34G=)
c.1126-34G= (n.1126-34G=)
c.889-34G= (n.889-34G=)
c.532-34G= (n.532-34G=)
c.1018-34G= (n.1018-34G=)
12g.11885893C>ACA2617675060ETV6c.1153-33C>A (n.1153-33C>A)
c.1150-33C>A (n.1150-33C>A)
c.1126-33C>A (n.1126-33C>A)
c.889-33C>A (n.889-33C>A)
c.532-33C>A (n.532-33C>A)
c.1018-33C>A (n.1018-33C>A)
gnomAD v4
12g.11885893C=CA2016648574ETV6c.1153-33C= (n.1153-33C=)
c.1150-33C= (n.1150-33C=)
c.1126-33C= (n.1126-33C=)
c.889-33C= (n.889-33C=)
c.532-33C= (n.532-33C=)
c.1018-33C= (n.1018-33C=)
12g.11885893C>GCA6454421ETV6c.1153-33C>G (n.1153-33C>G)
c.1150-33C>G (n.1150-33C>G)
c.1126-33C>G (n.1126-33C>G)
c.889-33C>G (n.889-33C>G)
c.532-33C>G (n.532-33C>G)
c.1018-33C>G (n.1018-33C>G)
dbSNP ExAC gnomAD v4
12g.11885893C>TCA684251333ETV6c.1153-33C>T (n.1153-33C>T)
c.1150-33C>T (n.1150-33C>T)
c.1126-33C>T (n.1126-33C>T)
c.889-33C>T (n.889-33C>T)
c.532-33C>T (n.532-33C>T)
c.1018-33C>T (n.1018-33C>T)
dbSNP gnomAD v4
12g.11885893_11885894delinsCTCA2016648573ETV6c.1153-33_1153-32delinsCT (n.1153-33_1153-32delinsCT)
c.1150-33_1150-32delinsCT (n.1150-33_1150-32delinsCT)
c.1126-33_1126-32delinsCT (n.1126-33_1126-32delinsCT)
c.889-33_889-32delinsCT (n.889-33_889-32delinsCT)
c.532-33_532-32delinsCT (n.532-33_532-32delinsCT)
c.1018-33_1018-32delinsCT (n.1018-33_1018-32delinsCT)
12g.11885894T>CCA2617675061ETV6c.1153-32T>C (n.1153-32T>C)
c.1150-32T>C (n.1150-32T>C)
c.1126-32T>C (n.1126-32T>C)
c.889-32T>C (n.889-32T>C)
c.532-32T>C (n.532-32T>C)
c.1018-32T>C (n.1018-32T>C)
dbSNP gnomAD v4
12g.11885900dupCA232637460ETV6c.1153-26dup (n.1153-26dup)
c.1150-26dup (n.1150-26dup)
c.1126-26dup (n.1126-26dup)
c.889-26dup (n.889-26dup)
c.532-26dup (n.532-26dup)
c.1018-26dup (n.1018-26dup)
dbSNP gnomAD v2 gnomAD v4
12g.11885900delCA6454420ETV6c.1153-26del (n.1153-26del)
c.1150-26del (n.1150-26del)
c.1126-26del (n.1126-26del)
c.889-26del (n.889-26del)
c.532-26del (n.532-26del)
c.1018-26del (n.1018-26del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.11885897T>GCA2617675062ETV6c.1153-29T>G (n.1153-29T>G)
c.1150-29T>G (n.1150-29T>G)
c.1126-29T>G (n.1126-29T>G)
c.889-29T>G (n.889-29T>G)
c.532-29T>G (n.532-29T>G)
c.1018-29T>G (n.1018-29T>G)
gnomAD v4
12g.11885898T>CCA6454422ETV6c.1153-28T>C (n.1153-28T>C)
c.1150-28T>C (n.1150-28T>C)
c.1126-28T>C (n.1126-28T>C)
c.889-28T>C (n.889-28T>C)
c.532-28T>C (n.532-28T>C)
c.1018-28T>C (n.1018-28T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.11885898T=CA2016648575ETV6c.1153-28T= (n.1153-28T=)
c.1150-28T= (n.1150-28T=)
c.1126-28T= (n.1126-28T=)
c.889-28T= (n.889-28T=)
c.532-28T= (n.532-28T=)
c.1018-28T= (n.1018-28T=)
12g.11885898_11885899insATACA2725554062ETV6c.1153-28_1153-27insATA (n.1153-28_1153-27insATA)
c.1150-28_1150-27insATA (n.1150-28_1150-27insATA)
c.1126-28_1126-27insATA (n.1126-28_1126-27insATA)
c.889-28_889-27insATA (n.889-28_889-27insATA)
c.532-28_532-27insATA (n.532-28_532-27insATA)
c.1018-28_1018-27insATA (n.1018-28_1018-27insATA)
dbSNP
12g.11885899T>ACA2617675063ETV6c.1153-27T>A (n.1153-27T>A)
c.1150-27T>A (n.1150-27T>A)
c.1126-27T>A (n.1126-27T>A)
c.889-27T>A (n.889-27T>A)
c.532-27T>A (n.532-27T>A)
c.1018-27T>A (n.1018-27T>A)
gnomAD v4
12g.11885900T>CCA2617675064ETV6c.1153-26T>C (n.1153-26T>C)
c.1150-26T>C (n.1150-26T>C)
c.1126-26T>C (n.1126-26T>C)
c.889-26T>C (n.889-26T>C)
c.532-26T>C (n.532-26T>C)
c.1018-26T>C (n.1018-26T>C)
gnomAD v4
12g.11885900T=CA2016648576ETV6c.1153-26T= (n.1153-26T=)
c.1150-26T= (n.1150-26T=)
c.1126-26T= (n.1126-26T=)
c.889-26T= (n.889-26T=)
c.532-26T= (n.532-26T=)
c.1018-26T= (n.1018-26T=)
12g.11885900_11885901insTTTCTCTCA2575169109ETV6c.1153-26_1153-25insTTTCTCT (n.1153-26_1153-25insTTTCTCT)
c.1150-26_1150-25insTTTCTCT (n.1150-26_1150-25insTTTCTCT)
c.1126-26_1126-25insTTTCTCT (n.1126-26_1126-25insTTTCTCT)
c.889-26_889-25insTTTCTCT (n.889-26_889-25insTTTCTCT)
c.532-26_532-25insTTTCTCT (n.532-26_532-25insTTTCTCT)
c.1018-26_1018-25insTTTCTCT (n.1018-26_1018-25insTTTCTCT)
12g.11885901C>ACA2617675065ETV6c.1153-25C>A (n.1153-25C>A)
c.1150-25C>A (n.1150-25C>A)
c.1126-25C>A (n.1126-25C>A)
c.889-25C>A (n.889-25C>A)
c.532-25C>A (n.532-25C>A)
c.1018-25C>A (n.1018-25C>A)
gnomAD v4
12g.11885901C=CA2016648577ETV6c.1153-25C= (n.1153-25C=)
c.1150-25C= (n.1150-25C=)
c.1126-25C= (n.1126-25C=)
c.889-25C= (n.889-25C=)
c.532-25C= (n.532-25C=)
c.1018-25C= (n.1018-25C=)
12g.11885901C>GCA2016648578ETV6c.1153-25C>G (n.1153-25C>G)
c.1150-25C>G (n.1150-25C>G)
c.1126-25C>G (n.1126-25C>G)
c.889-25C>G (n.889-25C>G)
c.532-25C>G (n.532-25C>G)
c.1018-25C>G (n.1018-25C>G)
dbSNP gnomAD v4
12g.11885901C>TCA603418302ETV6c.1153-25C>T (n.1153-25C>T)
c.1150-25C>T (n.1150-25C>T)
c.1126-25C>T (n.1126-25C>T)
c.889-25C>T (n.889-25C>T)
c.532-25C>T (n.532-25C>T)
c.1018-25C>T (n.1018-25C>T)
dbSNP gnomAD v2 gnomAD v4
12g.11885901_11885902insACTGTCACCAAGGTTTACCA2725249499ETV6c.1153-25_1153-24insACTGTCACCAAGGTTTAC (n.1153-25_1153-24insACTGTCACCAAGGTTTAC)
c.1150-25_1150-24insACTGTCACCAAGGTTTAC (n.1150-25_1150-24insACTGTCACCAAGGTTTAC)
c.1126-25_1126-24insACTGTCACCAAGGTTTAC (n.1126-25_1126-24insACTGTCACCAAGGTTTAC)
c.889-25_889-24insACTGTCACCAAGGTTTAC (n.889-25_889-24insACTGTCACCAAGGTTTAC)
c.532-25_532-24insACTGTCACCAAGGTTTAC (n.532-25_532-24insACTGTCACCAAGGTTTAC)
c.1018-25_1018-24insACTGTCACCAAGGTTTAC (n.1018-25_1018-24insACTGTCACCAAGGTTTAC)
dbSNP
12g.11885901dupCA6454423ETV6c.1153-25dup (n.1153-25dup)
c.1150-25dup (n.1150-25dup)
c.1126-25dup (n.1126-25dup)
c.889-25dup (n.889-25dup)
c.532-25dup (n.532-25dup)
c.1018-25dup (n.1018-25dup)
dbSNP ExAC gnomAD v3 gnomAD v4
12g.11885902T>CCA2617675066ETV6c.1153-24T>C (n.1153-24T>C)
c.1150-24T>C (n.1150-24T>C)
c.1126-24T>C (n.1126-24T>C)
c.889-24T>C (n.889-24T>C)
c.532-24T>C (n.532-24T>C)
c.1018-24T>C (n.1018-24T>C)
gnomAD v4
12g.11885903C>ACA2575169110ETV6c.1153-23C>A (n.1153-23C>A)
c.1150-23C>A (n.1150-23C>A)
c.1126-23C>A (n.1126-23C>A)
c.889-23C>A (n.889-23C>A)
c.532-23C>A (n.532-23C>A)
c.1018-23C>A (n.1018-23C>A)
gnomAD v4
12g.11885903C=CA2016648579ETV6c.1153-23C= (n.1153-23C=)
c.1150-23C= (n.1150-23C=)
c.1126-23C= (n.1126-23C=)
c.889-23C= (n.889-23C=)
c.532-23C= (n.532-23C=)
c.1018-23C= (n.1018-23C=)
12g.11885903C>TCA603418303ETV6c.1153-23C>T (n.1153-23C>T)
c.1150-23C>T (n.1150-23C>T)
c.1126-23C>T (n.1126-23C>T)
c.889-23C>T (n.889-23C>T)
c.532-23C>T (n.532-23C>T)
c.1018-23C>T (n.1018-23C>T)
dbSNP gnomAD v2 gnomAD v4
12g.11885904C>ACA2617675067ETV6c.1153-22C>A (n.1153-22C>A)
c.1150-22C>A (n.1150-22C>A)
c.1126-22C>A (n.1126-22C>A)
c.889-22C>A (n.889-22C>A)
c.532-22C>A (n.532-22C>A)
c.1018-22C>A (n.1018-22C>A)
dbSNP gnomAD v4
12g.11885904C=CA2016648580ETV6c.1153-22C= (n.1153-22C=)
c.1150-22C= (n.1150-22C=)
c.1126-22C= (n.1126-22C=)
c.889-22C= (n.889-22C=)
c.532-22C= (n.532-22C=)
c.1018-22C= (n.1018-22C=)
12g.11885904C>TCA603418304ETV6c.1153-22C>T (n.1153-22C>T)
c.1150-22C>T (n.1150-22C>T)
c.1126-22C>T (n.1126-22C>T)
c.889-22C>T (n.889-22C>T)
c.532-22C>T (n.532-22C>T)
c.1018-22C>T (n.1018-22C>T)
dbSNP gnomAD v2 gnomAD v4
12g.11885905C>ACA2617675068ETV6c.1153-21C>A (n.1153-21C>A)
c.1150-21C>A (n.1150-21C>A)
c.1126-21C>A (n.1126-21C>A)
c.889-21C>A (n.889-21C>A)
c.532-21C>A (n.532-21C>A)
c.1018-21C>A (n.1018-21C>A)
gnomAD v4
12g.11885905C=CA2016648581ETV6c.1153-21C= (n.1153-21C=)
c.1150-21C= (n.1150-21C=)
c.1126-21C= (n.1126-21C=)
c.889-21C= (n.889-21C=)
c.532-21C= (n.532-21C=)
c.1018-21C= (n.1018-21C=)
12g.11885905C>TCA603418305ETV6c.1153-21C>T (n.1153-21C>T)
c.1150-21C>T (n.1150-21C>T)
c.1126-21C>T (n.1126-21C>T)
c.889-21C>T (n.889-21C>T)
c.532-21C>T (n.532-21C>T)
c.1018-21C>T (n.1018-21C>T)
dbSNP gnomAD v2 gnomAD v4
12g.11885906T>CCA6454424ETV6c.1153-20T>C (n.1153-20T>C)
c.1150-20T>C (n.1150-20T>C)
c.1126-20T>C (n.1126-20T>C)
c.889-20T>C (n.889-20T>C)
c.532-20T>C (n.532-20T>C)
c.1018-20T>C (n.1018-20T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.11885906T>GCA2617675069ETV6c.1153-20T>G (n.1153-20T>G)
c.1150-20T>G (n.1150-20T>G)
c.1126-20T>G (n.1126-20T>G)
c.889-20T>G (n.889-20T>G)
c.532-20T>G (n.532-20T>G)
c.1018-20T>G (n.1018-20T>G)
gnomAD v4
12g.11885906T=CA2016648582ETV6c.1153-20T= (n.1153-20T=)
c.1150-20T= (n.1150-20T=)
c.1126-20T= (n.1126-20T=)
c.889-20T= (n.889-20T=)
c.532-20T= (n.532-20T=)
c.1018-20T= (n.1018-20T=)
12g.11885907T>CCA2617675070ETV6c.1153-19T>C (n.1153-19T>C)
c.1150-19T>C (n.1150-19T>C)
c.1126-19T>C (n.1126-19T>C)
c.889-19T>C (n.889-19T>C)
c.532-19T>C (n.532-19T>C)
c.1018-19T>C (n.1018-19T>C)
gnomAD v4
12g.11885911_11885913dupCA2016648583ETV6c.1153-15_1153-13dup (n.1153-15_1153-13dup)
c.1150-15_1150-13dup (n.1150-15_1150-13dup)
c.1126-15_1126-13dup (n.1126-15_1126-13dup)
c.889-15_889-13dup (n.889-15_889-13dup)
c.532-15_532-13dup (n.532-15_532-13dup)
c.1018-15_1018-13dup (n.1018-15_1018-13dup)
dbSNP
12g.11885908C>ACA2617675071ETV6c.1153-18C>A (n.1153-18C>A)
c.1150-18C>A (n.1150-18C>A)
c.1126-18C>A (n.1126-18C>A)
c.889-18C>A (n.889-18C>A)
c.532-18C>A (n.532-18C>A)
c.1018-18C>A (n.1018-18C>A)
gnomAD v4
12g.11885908C=CA2016648584ETV6c.1153-18C= (n.1153-18C=)
c.1150-18C= (n.1150-18C=)
c.1126-18C= (n.1126-18C=)
c.889-18C= (n.889-18C=)
c.532-18C= (n.532-18C=)
c.1018-18C= (n.1018-18C=)
12g.11885908C>TCA603418306ETV6c.1153-18C>T (n.1153-18C>T)
c.1150-18C>T (n.1150-18C>T)
c.1126-18C>T (n.1126-18C>T)
c.889-18C>T (n.889-18C>T)
c.532-18C>T (n.532-18C>T)
c.1018-18C>T (n.1018-18C>T)
dbSNP gnomAD v2 gnomAD v4
12g.11885909C>ACA2617675072ETV6c.1153-17C>A (n.1153-17C>A)
c.1150-17C>A (n.1150-17C>A)
c.1126-17C>A (n.1126-17C>A)
c.889-17C>A (n.889-17C>A)
c.532-17C>A (n.532-17C>A)
c.1018-17C>A (n.1018-17C>A)
gnomAD v4
12g.11885909C=CA2016648585ETV6c.1153-17C= (n.1153-17C=)
c.1150-17C= (n.1150-17C=)
c.1126-17C= (n.1126-17C=)
c.889-17C= (n.889-17C=)
c.532-17C= (n.532-17C=)
c.1018-17C= (n.1018-17C=)
12g.11885909C>GCA684251355ETV6c.1153-17C>G (n.1153-17C>G)
c.1150-17C>G (n.1150-17C>G)
c.1126-17C>G (n.1126-17C>G)
c.889-17C>G (n.889-17C>G)
c.532-17C>G (n.532-17C>G)
c.1018-17C>G (n.1018-17C>G)
dbSNP gnomAD v4
12g.11885909C>TCA603418307ETV6c.1153-17C>T (n.1153-17C>T)
c.1150-17C>T (n.1150-17C>T)
c.1126-17C>T (n.1126-17C>T)
c.889-17C>T (n.889-17C>T)
c.532-17C>T (n.532-17C>T)
c.1018-17C>T (n.1018-17C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.11885911C>TCA2725554063ETV6c.1153-15C>T (n.1153-15C>T)
c.1150-15C>T (n.1150-15C>T)
c.1126-15C>T (n.1126-15C>T)
c.889-15C>T (n.889-15C>T)
c.532-15C>T (n.532-15C>T)
c.1018-15C>T (n.1018-15C>T)
dbSNP
12g.11885912C>ACA2617675073ETV6c.1153-14C>A (n.1153-14C>A)
c.1150-14C>A (n.1150-14C>A)
c.1126-14C>A (n.1126-14C>A)
c.889-14C>A (n.889-14C>A)
c.532-14C>A (n.532-14C>A)
c.1018-14C>A (n.1018-14C>A)
gnomAD v4
12g.11885914T>ACA603418308ETV6c.1153-12T>A (n.1153-12T>A)
c.1150-12T>A (n.1150-12T>A)
c.1126-12T>A (n.1126-12T>A)
c.889-12T>A (n.889-12T>A)
c.532-12T>A (n.532-12T>A)
c.1018-12T>A (n.1018-12T>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.11885914T>CCA6454425ETV6c.1153-12T>C (n.1153-12T>C)
c.1150-12T>C (n.1150-12T>C)
c.1126-12T>C (n.1126-12T>C)
c.889-12T>C (n.889-12T>C)
c.532-12T>C (n.532-12T>C)
c.1018-12T>C (n.1018-12T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.11885914T>GCA2794567723ETV6c.1153-12T>G (n.1153-12T>G)
c.1150-12T>G (n.1150-12T>G)
c.1126-12T>G (n.1126-12T>G)
c.889-12T>G (n.889-12T>G)
c.532-12T>G (n.532-12T>G)
c.1018-12T>G (n.1018-12T>G)
12g.11885914T=CA2016648586ETV6c.1153-12T= (n.1153-12T=)
c.1150-12T= (n.1150-12T=)
c.1126-12T= (n.1126-12T=)
c.889-12T= (n.889-12T=)
c.532-12T= (n.532-12T=)
c.1018-12T= (n.1018-12T=)
12g.11885925_11885938delCA913184887ETV6c.1153-1_1165del
c.1150-1_1162del
c.1126-1_1138del
c.889-1_901del
c.532-1_544del
c.1018-1_1030del
ClinVar dbSNP
12g.11885917A>TCA2725554066ETV6c.1153-9A>T (n.1153-9A>T)
c.1150-9A>T (n.1150-9A>T)
c.1126-9A>T (n.1126-9A>T)
c.889-9A>T (n.889-9A>T)
c.532-9A>T (n.532-9A>T)
c.1018-9A>T (n.1018-9A>T)
dbSNP
12g.11885918A>GCA2617675074ETV6c.1153-8A>G (n.1153-8A>G)
c.1150-8A>G (n.1150-8A>G)
c.1126-8A>G (n.1126-8A>G)
c.889-8A>G (n.889-8A>G)
c.532-8A>G (n.532-8A>G)
c.1018-8A>G (n.1018-8A>G)
gnomAD v4
12g.11885919C>ACA2575169111ETV6c.1153-7C>A (n.1153-7C>A)
c.1150-7C>A (n.1150-7C>A)
c.1126-7C>A (n.1126-7C>A)
c.889-7C>A (n.889-7C>A)
c.532-7C>A (n.532-7C>A)
c.1018-7C>A (n.1018-7C>A)
gnomAD v4
12g.11885919C=CA2016648587ETV6c.1153-7C= (n.1153-7C=)
c.1150-7C= (n.1150-7C=)
c.1126-7C= (n.1126-7C=)
c.889-7C= (n.889-7C=)
c.532-7C= (n.532-7C=)
c.1018-7C= (n.1018-7C=)
12g.11885919C>TCA6454426ETV6c.1153-7C>T (n.1153-7C>T)
c.1150-7C>T (n.1150-7C>T)
c.1126-7C>T (n.1126-7C>T)
c.889-7C>T (n.889-7C>T)
c.532-7C>T (n.532-7C>T)
c.1018-7C>T (n.1018-7C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.11885919_11885921delinsCAACA2016648588ETV6c.1153-7_1153-5delinsCAA (n.1153-7_1153-5delinsCAA)
c.1150-7_1150-5delinsCAA (n.1150-7_1150-5delinsCAA)
c.1126-7_1126-5delinsCAA (n.1126-7_1126-5delinsCAA)
c.889-7_889-5delinsCAA (n.889-7_889-5delinsCAA)
c.532-7_532-5delinsCAA (n.532-7_532-5delinsCAA)
c.1018-7_1018-5delinsCAA (n.1018-7_1018-5delinsCAA)
12g.11885921_11885922delCA2016648589ETV6c.1153-5_1153-4del (n.1153-5_1153-4del)
c.1150-5_1150-4del (n.1150-5_1150-4del)
c.1126-5_1126-4del (n.1126-5_1126-4del)
c.889-5_889-4del (n.889-5_889-4del)
c.532-5_532-4del (n.532-5_532-4del)
c.1018-5_1018-4del (n.1018-5_1018-4del)
dbSNP
12g.11885930_11885934delCA199643ETV6c.1157_1161del
c.1154_1158del
c.1130_1134del
c.893_897del
c.536_540del
c.1022_1026del
ClinVar gnomAD v4
12g.11885923C>ACA232637494ETV6c.1153-3C>A (n.1153-3C>A)
c.1150-3C>A (n.1150-3C>A)
c.1126-3C>A (n.1126-3C>A)
c.889-3C>A (n.889-3C>A)
c.532-3C>A (n.532-3C>A)
c.1018-3C>A (n.1018-3C>A)
dbSNP gnomAD v4
12g.11885923C=CA2016648590ETV6c.1153-3C= (n.1153-3C=)
c.1150-3C= (n.1150-3C=)
c.1126-3C= (n.1126-3C=)
c.889-3C= (n.889-3C=)
c.532-3C= (n.532-3C=)
c.1018-3C= (n.1018-3C=)
12g.11885923C>GCA603418309ETV6c.1153-3C>G (n.1153-3C>G)
c.1150-3C>G (n.1150-3C>G)
c.1126-3C>G (n.1126-3C>G)
c.889-3C>G (n.889-3C>G)
c.532-3C>G (n.532-3C>G)
c.1018-3C>G (n.1018-3C>G)
dbSNP gnomAD v2 gnomAD v4
12g.11885923C>TCA2725256346ETV6c.1153-3C>T (n.1153-3C>T)
c.1150-3C>T (n.1150-3C>T)
c.1126-3C>T (n.1126-3C>T)
c.889-3C>T (n.889-3C>T)
c.532-3C>T (n.532-3C>T)
c.1018-3C>T (n.1018-3C>T)
dbSNP
12g.11885924A>CCA384044790ETV6c.1153-2A>C (n.1153-2A>C)
c.1150-2A>C (n.1150-2A>C)
c.1126-2A>C (n.1126-2A>C)
c.889-2A>C (n.889-2A>C)
c.532-2A>C (n.532-2A>C)
c.1018-2A>C (n.1018-2A>C)
12g.11885924A>GCA384044791ETV6c.1153-2A>G (n.1153-2A>G)
c.1150-2A>G (n.1150-2A>G)
c.1126-2A>G (n.1126-2A>G)
c.889-2A>G (n.889-2A>G)
c.532-2A>G (n.532-2A>G)
c.1018-2A>G (n.1018-2A>G)
12g.11885924A>TCA384044792ETV6c.1153-2A>T (n.1153-2A>T)
c.1150-2A>T (n.1150-2A>T)
c.1126-2A>T (n.1126-2A>T)
c.889-2A>T (n.889-2A>T)
c.532-2A>T (n.532-2A>T)
c.1018-2A>T (n.1018-2A>T)
12g.11885925_11885926delCA2580085156ETV6c.1153-1_1153del
c.1150-1_1150del
c.1126-1_1126del
c.889-1_889del
c.532-1_532del
c.1018-1_1018del
ClinVar
12g.11885924_11885938delCA2573053612ETV6c.1153-2_1165del
c.1150-2_1162del
c.1126-2_1138del
c.889-2_901del
c.532-2_544del
c.1018-2_1030del
ClinVar dbSNP
12g.11885925G>ACA384044793ETV6c.1153-1G>A (n.1153-1G>A)
c.1150-1G>A (n.1150-1G>A)
c.1126-1G>A (n.1126-1G>A)
c.889-1G>A (n.889-1G>A)
c.532-1G>A (n.532-1G>A)
c.1018-1G>A (n.1018-1G>A)
12g.11885925G>CCA384044794ETV6c.1153-1G>C (n.1153-1G>C)
c.1150-1G>C (n.1150-1G>C)
c.1126-1G>C (n.1126-1G>C)
c.889-1G>C (n.889-1G>C)
c.532-1G>C (n.532-1G>C)
c.1018-1G>C (n.1018-1G>C)
dbSNP gnomAD v3 gnomAD v4
12g.11885925G=CA2016648591ETV6c.1153-1G= (n.1153-1G=)
c.1150-1G= (n.1150-1G=)
c.1126-1G= (n.1126-1G=)
c.889-1G= (n.889-1G=)
c.532-1G= (n.532-1G=)
c.1018-1G= (n.1018-1G=)
12g.11885925G>TCA384044795ETV6c.1153-1G>T (n.1153-1G>T)
c.1150-1G>T (n.1150-1G>T)
c.1126-1G>T (n.1126-1G>T)
c.889-1G>T (n.889-1G>T)
c.532-1G>T (n.532-1G>T)
c.1018-1G>T (n.1018-1G>T)
COSMIC
12g.11885926A>CCA384044796ETV6c.1153A>C (p.Asn385His)
c.1150A>C (p.Asn384His)
c.1126A>C (p.Asn376His)
c.889A>C (p.Asn297His)
c.532A>C (p.Asn178His)
c.1018A>C (p.Asn340His)
12g.11885926A>GCA384044797ETV6c.1153A>G (p.Asn385Asp)
c.1150A>G (p.Asn384Asp)
c.1126A>G (p.Asn376Asp)
c.889A>G (p.Asn297Asp)
c.532A>G (p.Asn178Asp)
c.1018A>G (p.Asn340Asp)
12g.11885926A>TCA384044798ETV6c.1153A>T (p.Asn385Tyr)
c.1150A>T (p.Asn384Tyr)
c.1126A>T (p.Asn376Tyr)
c.889A>T (p.Asn297Tyr)
c.532A>T (p.Asn178Tyr)
c.1018A>T (p.Asn340Tyr)
ClinVar dbSNP
12g.11885927A>CCA384044801ETV6c.1154A>C (p.Asn385Thr)
c.1151A>C (p.Asn384Thr)
c.1127A>C (p.Asn376Thr)
c.890A>C (p.Asn297Thr)
c.533A>C (p.Asn178Thr)
c.1019A>C (p.Asn340Thr)
12g.11885927A>GCA384044799ETV6c.1154A>G (p.Asn385Ser)
c.1151A>G (p.Asn384Ser)
c.1127A>G (p.Asn376Ser)
c.890A>G (p.Asn297Ser)
c.533A>G (p.Asn178Ser)
c.1019A>G (p.Asn340Ser)
COSMIC
12g.11885927A>TCA384044800ETV6c.1154A>T (p.Asn385Ile)
c.1151A>T (p.Asn384Ile)
c.1127A>T (p.Asn376Ile)
c.890A>T (p.Asn297Ile)
c.533A>T (p.Asn178Ile)
c.1019A>T (p.Asn340Ile)
12g.11885929_11885942delCA2617675075ETV6c.1156_1169del (p.Arg386LeufsTer2)
c.1153_1166del (p.Arg385LeufsTer2)
c.1129_1142del (p.Arg377LeufsTer2)
c.892_905del (p.Arg298LeufsTer2)
c.535_548del (p.Arg179LeufsTer2)
c.1021_1034del (p.Arg341LeufsTer2)
gnomAD v4
12g.11885928C>ACA384044802ETV6c.1155C>A (p.Asn385Lys)
c.1152C>A (p.Asn384Lys)
c.1128C>A (p.Asn376Lys)
c.891C>A (p.Asn297Lys)
c.534C>A (p.Asn178Lys)
c.1020C>A (p.Asn340Lys)
12g.11885928C>GCA384044803ETV6c.1155C>G (p.Asn385Lys)
c.1152C>G (p.Asn384Lys)
c.1128C>G (p.Asn376Lys)
c.891C>G (p.Asn297Lys)
c.534C>G (p.Asn178Lys)
c.1020C>G (p.Asn340Lys)
12g.11885928C>TCA478767192ETV6c.1155C>T (p.Asn385=)
c.1152C>T (p.Asn384=)
c.1128C>T (p.Asn376=)
c.891C>T (p.Asn297=)
c.534C>T (p.Asn178=)
c.1020C>T (p.Asn340=)
12g.11885929A>CCA478767193ETV6c.1156A>C (p.Arg386=)
c.1153A>C (p.Arg385=)
c.1129A>C (p.Arg377=)
c.892A>C (p.Arg298=)
c.535A>C (p.Arg179=)
c.1021A>C (p.Arg341=)
12g.11885929A>GCA384044804ETV6c.1156A>G (p.Arg386Gly)
c.1153A>G (p.Arg385Gly)
c.1129A>G (p.Arg377Gly)
c.892A>G (p.Arg298Gly)
c.535A>G (p.Arg179Gly)
c.1021A>G (p.Arg341Gly)
12g.11885929A>TCA384044805ETV6c.1156A>T (p.Arg386Ter)
c.1153A>T (p.Arg385Ter)
c.1129A>T (p.Arg377Ter)
c.892A>T (p.Arg298Ter)
c.535A>T (p.Arg179Ter)
c.1021A>T (p.Arg341Ter)
12g.11885930G>ACA384044806ETV6c.1157G>A (p.Arg386Lys)
c.1154G>A (p.Arg385Lys)
c.1130G>A (p.Arg377Lys)
c.893G>A (p.Arg298Lys)
c.536G>A (p.Arg179Lys)
c.1022G>A (p.Arg341Lys)
dbSNP
12g.11885930G>CCA384044807ETV6c.1157G>C (p.Arg386Thr)
c.1154G>C (p.Arg385Thr)
c.1130G>C (p.Arg377Thr)
c.893G>C (p.Arg298Thr)
c.536G>C (p.Arg179Thr)
c.1022G>C (p.Arg341Thr)
12g.11885930G>TCA384044808ETV6c.1157G>T (p.Arg386Ile)
c.1154G>T (p.Arg385Ile)
c.1130G>T (p.Arg377Ile)
c.893G>T (p.Arg298Ile)
c.536G>T (p.Arg179Ile)
c.1022G>T (p.Arg341Ile)
12g.11885931A>CCA384044809ETV6c.1158A>C (p.Arg386Ser)
c.1155A>C (p.Arg385Ser)
c.1131A>C (p.Arg377Ser)
c.894A>C (p.Arg298Ser)
c.537A>C (p.Arg179Ser)
c.1023A>C (p.Arg341Ser)
12g.11885931A>GCA478767194ETV6c.1158A>G (p.Arg386=)
c.1155A>G (p.Arg385=)
c.1131A>G (p.Arg377=)
c.894A>G (p.Arg298=)
c.537A>G (p.Arg179=)
c.1023A>G (p.Arg341=)
12g.11885931A>TCA384044810ETV6c.1158A>T (p.Arg386Ser)
c.1155A>T (p.Arg385Ser)
c.1131A>T (p.Arg377Ser)
c.894A>T (p.Arg298Ser)
c.537A>T (p.Arg179Ser)
c.1023A>T (p.Arg341Ser)
12g.11885932A>CCA384044811ETV6c.1159A>C (p.Thr387Pro)
c.1156A>C (p.Thr386Pro)
c.1132A>C (p.Thr378Pro)
c.895A>C (p.Thr299Pro)
c.538A>C (p.Thr180Pro)
c.1024A>C (p.Thr342Pro)
12g.11885932A>GCA384044812ETV6c.1159A>G (p.Thr387Ala)
c.1156A>G (p.Thr386Ala)
c.1132A>G (p.Thr378Ala)
c.895A>G (p.Thr299Ala)
c.538A>G (p.Thr180Ala)
c.1024A>G (p.Thr342Ala)
dbSNP gnomAD v3
12g.11885932A>TCA384044813ETV6c.1159A>T (p.Thr387Ser)
c.1156A>T (p.Thr386Ser)
c.1132A>T (p.Thr378Ser)
c.895A>T (p.Thr299Ser)
c.538A>T (p.Thr180Ser)
c.1024A>T (p.Thr342Ser)
12g.11885933C>ACA384044815ETV6c.1160C>A (p.Thr387Lys)
c.1157C>A (p.Thr386Lys)
c.1133C>A (p.Thr378Lys)
c.896C>A (p.Thr299Lys)
c.539C>A (p.Thr180Lys)
c.1025C>A (p.Thr342Lys)
12g.11885933C=CA2016648592ETV6c.1160C= (p.Thr387=)
c.1157C= (p.Thr386=)
c.1133C= (p.Thr378=)
c.896C= (p.Thr299=)
c.539C= (p.Thr180=)
c.1025C= (p.Thr342=)
12g.11885933C>GCA384044816ETV6c.1160C>G (p.Thr387Arg)
c.1157C>G (p.Thr386Arg)
c.1133C>G (p.Thr378Arg)
c.896C>G (p.Thr299Arg)
c.539C>G (p.Thr180Arg)
c.1025C>G (p.Thr342Arg)
12g.11885933C>TCA384044814ETV6c.1160C>T (p.Thr387Ile)
c.1157C>T (p.Thr386Ile)
c.1133C>T (p.Thr378Ile)
c.896C>T (p.Thr299Ile)
c.539C>T (p.Thr180Ile)
c.1025C>T (p.Thr342Ile)
dbSNP gnomAD v2 gnomAD v4
12g.11885934A>CCA478767195ETV6c.1161A>C (p.Thr387=)
c.1158A>C (p.Thr386=)
c.1134A>C (p.Thr378=)
c.897A>C (p.Thr299=)
c.540A>C (p.Thr180=)
c.1026A>C (p.Thr342=)
12g.11885934A>GCA478767196ETV6c.1161A>G (p.Thr387=)
c.1158A>G (p.Thr386=)
c.1134A>G (p.Thr378=)
c.897A>G (p.Thr299=)
c.540A>G (p.Thr180=)
c.1026A>G (p.Thr342=)
12g.11885934A>TCA478767197ETV6c.1161A>T (p.Thr387=)
c.1158A>T (p.Thr386=)
c.1134A>T (p.Thr378=)
c.897A>T (p.Thr299=)
c.540A>T (p.Thr180=)
c.1026A>T (p.Thr342=)
12g.11885935A>CCA384044817ETV6c.1162A>C (p.Asn388His)
c.1159A>C (p.Asn387His)
c.1135A>C (p.Asn379His)
c.898A>C (p.Asn300His)
c.541A>C (p.Asn181His)
c.1027A>C (p.Asn343His)
12g.11885935A>GCA384044818ETV6c.1162A>G (p.Asn388Asp)
c.1159A>G (p.Asn387Asp)
c.1135A>G (p.Asn379Asp)
c.898A>G (p.Asn300Asp)
c.541A>G (p.Asn181Asp)
c.1027A>G (p.Asn343Asp)
12g.11885935A>TCA384044819ETV6c.1162A>T (p.Asn388Tyr)
c.1159A>T (p.Asn387Tyr)
c.1135A>T (p.Asn379Tyr)
c.898A>T (p.Asn300Tyr)
c.541A>T (p.Asn181Tyr)
c.1027A>T (p.Asn343Tyr)
12g.11885936A>CCA384044820ETV6c.1163A>C (p.Asn388Thr)
c.1160A>C (p.Asn387Thr)
c.1136A>C (p.Asn379Thr)
c.899A>C (p.Asn300Thr)
c.542A>C (p.Asn181Thr)
c.1028A>C (p.Asn343Thr)
12g.11885936A>GCA384044821ETV6c.1163A>G (p.Asn388Ser)
c.1160A>G (p.Asn387Ser)
c.1136A>G (p.Asn379Ser)
c.899A>G (p.Asn300Ser)
c.542A>G (p.Asn181Ser)
c.1028A>G (p.Asn343Ser)
12g.11885936A>TCA384044822ETV6c.1163A>T (p.Asn388Ile)
c.1160A>T (p.Asn387Ile)
c.1136A>T (p.Asn379Ile)
c.899A>T (p.Asn300Ile)
c.542A>T (p.Asn181Ile)
c.1028A>T (p.Asn343Ile)
12g.11885937C>ACA384044824ETV6c.1164C>A (p.Asn388Lys)
c.1C>A
c.1161C>A (p.Asn387Lys)
c.1137C>A (p.Asn379Lys)
c.900C>A (p.Asn300Lys)
c.543C>A (p.Asn181Lys)
c.1029C>A (p.Asn343Lys)
12g.11885937C>GCA384044823ETV6c.1164C>G (p.Asn388Lys)
c.1C>G
c.1161C>G (p.Asn387Lys)
c.1137C>G (p.Asn379Lys)
c.900C>G (p.Asn300Lys)
c.543C>G (p.Asn181Lys)
c.1029C>G (p.Asn343Lys)
12g.11885937C>TCA478767198ETV6c.1164C>T (p.Asn388=)
c.1C>T
c.1161C>T (p.Asn387=)
c.1137C>T (p.Asn379=)
c.900C>T (p.Asn300=)
c.543C>T (p.Asn181=)
c.1029C>T (p.Asn343=)
gnomAD v4
12g.11885938A>CCA384044825ETV6c.1165A>C (p.Met389Leu)
c.2A>C
c.1162A>C (p.Met388Leu)
c.1138A>C (p.Met380Leu)
c.901A>C (p.Met301Leu)
c.544A>C (p.Met182Leu)
c.1030A>C (p.Met344Leu)
12g.11885938A>GCA384044826ETV6c.1165A>G (p.Met389Val)
c.2A>G
c.1162A>G (p.Met388Val)
c.1138A>G (p.Met380Val)
c.901A>G (p.Met301Val)
c.544A>G (p.Met182Val)
c.1030A>G (p.Met344Val)
12g.11885938A>TCA384044827ETV6c.1165A>T (p.Met389Leu)
c.2A>T
c.1162A>T (p.Met388Leu)
c.1138A>T (p.Met380Leu)
c.901A>T (p.Met301Leu)
c.544A>T (p.Met182Leu)
c.1030A>T (p.Met344Leu)
12g.11885939T>ACA384044828ETV6c.1166T>A (p.Met389Lys)
c.3T>A
c.1163T>A (p.Met388Lys)
c.1139T>A (p.Met380Lys)
c.902T>A (p.Met301Lys)
c.545T>A (p.Met182Lys)
c.1031T>A (p.Met344Lys)
12g.11885939T>CCA384044829ETV6c.1166T>C (p.Met389Thr)
c.3T>C
c.1163T>C (p.Met388Thr)
c.1139T>C (p.Met380Thr)
c.902T>C (p.Met301Thr)
c.545T>C (p.Met182Thr)
c.1031T>C (p.Met344Thr)
12g.11885939T>GCA384044830ETV6c.1166T>G (p.Met389Arg)
c.3T>G
c.1163T>G (p.Met388Arg)
c.1139T>G (p.Met380Arg)
c.902T>G (p.Met301Arg)
c.545T>G (p.Met182Arg)
c.1031T>G (p.Met344Arg)
12g.11885940G>ACA384044831ETV6c.1167G>A (p.Met389Ile)
c.4G>A
c.1164G>A (p.Met388Ile)
c.1140G>A (p.Met380Ile)
c.903G>A (p.Met301Ile)
c.546G>A (p.Met182Ile)
c.1032G>A (p.Met344Ile)
COSMIC
12g.11885940G>CCA384044833ETV6c.1167G>C (p.Met389Ile)
c.4G>C
c.1164G>C (p.Met388Ile)
c.1140G>C (p.Met380Ile)
c.903G>C (p.Met301Ile)
c.546G>C (p.Met182Ile)
c.1032G>C (p.Met344Ile)
dbSNP
12g.11885940G>TCA384044832ETV6c.1167G>T (p.Met389Ile)
c.4G>T
c.1164G>T (p.Met388Ile)
c.1140G>T (p.Met380Ile)
c.903G>T (p.Met301Ile)
c.546G>T (p.Met182Ile)
c.1032G>T (p.Met344Ile)
gnomAD v4
12g.11885942_11885950delCA645595229ETV6c.1169_1177del (p.Thr390_Glu392del)
c.6_14del
c.1166_1174del (p.Thr389_Glu391del)
c.1142_1150del (p.Thr381_Glu383del)
c.905_913del (p.Thr302_Glu304del)
c.548_556del (p.Thr183_Glu185del)
c.1034_1042del (p.Thr345_Glu347del)
COSMIC
12g.11885941A>CCA384044834ETV6c.1168A>C (p.Thr390Pro)
c.5A>C
c.1165A>C (p.Thr389Pro)
c.1141A>C (p.Thr381Pro)
c.904A>C (p.Thr302Pro)
c.547A>C (p.Thr183Pro)
c.1033A>C (p.Thr345Pro)
12g.11885941A>GCA384044835ETV6c.1168A>G (p.Thr390Ala)
c.5A>G
c.1165A>G (p.Thr389Ala)
c.1141A>G (p.Thr381Ala)
c.904A>G (p.Thr302Ala)
c.547A>G (p.Thr183Ala)
c.1033A>G (p.Thr345Ala)
12g.11885941A>TCA384044836ETV6c.1168A>T (p.Thr390Ser)
c.5A>T
c.1165A>T (p.Thr389Ser)
c.1141A>T (p.Thr381Ser)
c.904A>T (p.Thr302Ser)
c.547A>T (p.Thr183Ser)
c.1033A>T (p.Thr345Ser)
12g.11885942C>ACA384044837ETV6c.1169C>A (p.Thr390Asn)
c.6C>A
c.1166C>A (p.Thr389Asn)
c.1142C>A (p.Thr381Asn)
c.905C>A (p.Thr302Asn)
c.548C>A (p.Thr183Asn)
c.1034C>A (p.Thr345Asn)
12g.11885942C>GCA384044838ETV6c.1169C>G (p.Thr390Ser)
c.6C>G
c.1166C>G (p.Thr389Ser)
c.1142C>G (p.Thr381Ser)
c.905C>G (p.Thr302Ser)
c.548C>G (p.Thr183Ser)
c.1034C>G (p.Thr345Ser)
12g.11885942C>TCA384044839ETV6c.1169C>T (p.Thr390Ile)
c.6C>T
c.1166C>T (p.Thr389Ile)
c.1142C>T (p.Thr381Ile)
c.905C>T (p.Thr302Ile)
c.548C>T (p.Thr183Ile)
c.1034C>T (p.Thr345Ile)
ClinVar
12g.11885943C>ACA478767199ETV6c.1170C>A (p.Thr390=)
c.7C>A
c.1167C>A (p.Thr389=)
c.1143C>A (p.Thr381=)
c.906C>A (p.Thr302=)
c.549C>A (p.Thr183=)
c.1035C>A (p.Thr345=)
12g.11885943C>GCA478767200ETV6c.1170C>G (p.Thr390=)
c.7C>G
c.1167C>G (p.Thr389=)
c.1143C>G (p.Thr381=)
c.906C>G (p.Thr302=)
c.549C>G (p.Thr183=)
c.1035C>G (p.Thr345=)
12g.11885943C>TCA478767201ETV6c.1170C>T (p.Thr390=)
c.7C>T
c.1167C>T (p.Thr389=)
c.1143C>T (p.Thr381=)
c.906C>T (p.Thr302=)
c.549C>T (p.Thr183=)
c.1035C>T (p.Thr345=)
12g.11885944delCA645595230ETV6c.1171del (p.Tyr391MetfsTer14)
c.8del
c.1168del (p.Tyr390MetfsTer14)
c.1144del (p.Tyr382MetfsTer14)
c.907del (p.Tyr303MetfsTer14)
c.550del (p.Tyr184MetfsTer14)
c.1036del (p.Tyr346MetfsTer14)
COSMIC
12g.11885944T>ACA384044840ETV6c.1171T>A (p.Tyr391Asn)
c.8T>A
c.1168T>A (p.Tyr390Asn)
c.1144T>A (p.Tyr382Asn)
c.907T>A (p.Tyr303Asn)
c.550T>A (p.Tyr184Asn)
c.1036T>A (p.Tyr346Asn)
12g.11885944T>CCA384044841ETV6c.1171T>C (p.Tyr391His)
c.8T>C
c.1168T>C (p.Tyr390His)
c.1144T>C (p.Tyr382His)
c.907T>C (p.Tyr303His)
c.550T>C (p.Tyr184His)
c.1036T>C (p.Tyr346His)
12g.11885944T>GCA384044842ETV6c.1171T>G (p.Tyr391Asp)
c.8T>G
c.1168T>G (p.Tyr390Asp)
c.1144T>G (p.Tyr382Asp)
c.907T>G (p.Tyr303Asp)
c.550T>G (p.Tyr184Asp)
c.1036T>G (p.Tyr346Asp)
12g.11885945A>CCA384044843ETV6c.1172A>C (p.Tyr391Ser)
c.9A>C
c.1169A>C (p.Tyr390Ser)
c.1145A>C (p.Tyr382Ser)
c.908A>C (p.Tyr303Ser)
c.551A>C (p.Tyr184Ser)
c.1037A>C (p.Tyr346Ser)
12g.11885945A>GCA384044844ETV6c.1172A>G (p.Tyr391Cys)
c.9A>G
c.1169A>G (p.Tyr390Cys)
c.1145A>G (p.Tyr382Cys)
c.908A>G (p.Tyr303Cys)
c.551A>G (p.Tyr184Cys)
c.1037A>G (p.Tyr346Cys)
dbSNP COSMIC
12g.11885945A>TCA384044845ETV6c.1172A>T (p.Tyr391Phe)
c.9A>T
c.1169A>T (p.Tyr390Phe)
c.1145A>T (p.Tyr382Phe)
c.908A>T (p.Tyr303Phe)
c.551A>T (p.Tyr184Phe)
c.1037A>T (p.Tyr346Phe)
12g.11885946T>ACA384044846ETV6c.1173T>A (p.Tyr391Ter)
c.10T>A
c.1170T>A (p.Tyr390Ter)
c.1146T>A (p.Tyr382Ter)
c.909T>A (p.Tyr303Ter)
c.552T>A (p.Tyr184Ter)
c.1038T>A (p.Tyr346Ter)
COSMIC
12g.11885946T>CCA6454427ETV6c.1173T>C (p.Tyr391=)
c.10T>C
c.1170T>C (p.Tyr390=)
c.1146T>C (p.Tyr382=)
c.909T>C (p.Tyr303=)
c.552T>C (p.Tyr184=)
c.1038T>C (p.Tyr346=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.11885946T>GCA384044847ETV6c.1173T>G (p.Tyr391Ter)
c.10T>G
c.1170T>G (p.Tyr390Ter)
c.1146T>G (p.Tyr382Ter)
c.909T>G (p.Tyr303Ter)
c.552T>G (p.Tyr184Ter)
c.1038T>G (p.Tyr346Ter)
gnomAD v4
12g.11885946T=CA2016648593ETV6c.1173T= (p.Tyr391=)
c.10T=
c.1170T= (p.Tyr390=)
c.1146T= (p.Tyr382=)
c.909T= (p.Tyr303=)
c.552T= (p.Tyr184=)
c.1038T= (p.Tyr346=)
12g.11885947G>ACA384044848ETV6c.1174G>A (p.Glu392Lys)
c.11G>A
c.1171G>A (p.Glu391Lys)
c.1147G>A (p.Glu383Lys)
c.910G>A (p.Glu304Lys)
c.553G>A (p.Glu185Lys)
c.1039G>A (p.Glu347Lys)
dbSNP COSMIC
12g.11885947G>CCA384044849ETV6c.1174G>C (p.Glu392Gln)
c.11G>C
c.1171G>C (p.Glu391Gln)
c.1147G>C (p.Glu383Gln)
c.910G>C (p.Glu304Gln)
c.553G>C (p.Glu185Gln)
c.1039G>C (p.Glu347Gln)
12g.11885947G>TCA384044850ETV6c.1174G>T (p.Glu392Ter)
c.11G>T
c.1171G>T (p.Glu391Ter)
c.1147G>T (p.Glu383Ter)
c.910G>T (p.Glu304Ter)
c.553G>T (p.Glu185Ter)
c.1039G>T (p.Glu347Ter)
12g.11885948A>CCA384044851ETV6c.1175A>C (p.Glu392Ala)
c.12A>C
c.1172A>C (p.Glu391Ala)
c.1148A>C (p.Glu383Ala)
c.911A>C (p.Glu304Ala)
c.554A>C (p.Glu185Ala)
c.1040A>C (p.Glu347Ala)
12g.11885948A>GCA384044852ETV6c.1175A>G (p.Glu392Gly)
c.12A>G
c.1172A>G (p.Glu391Gly)
c.1148A>G (p.Glu383Gly)
c.911A>G (p.Glu304Gly)
c.554A>G (p.Glu185Gly)
c.1040A>G (p.Glu347Gly)
12g.11885948A>TCA384044853ETV6c.1175A>T (p.Glu392Val)
c.12A>T
c.1172A>T (p.Glu391Val)
c.1148A>T (p.Glu383Val)
c.911A>T (p.Glu304Val)
c.554A>T (p.Glu185Val)
c.1040A>T (p.Glu347Val)
12g.11885949G>ACA478767202ETV6c.1176G>A (p.Glu392=)
c.13G>A
c.1173G>A (p.Glu391=)
c.1149G>A (p.Glu383=)
c.912G>A (p.Glu304=)
c.555G>A (p.Glu185=)
c.1041G>A (p.Glu347=)
gnomAD v4
12g.11885949G>CCA384044854ETV6c.1176G>C (p.Glu392Asp)
c.13G>C
c.1173G>C (p.Glu391Asp)
c.1149G>C (p.Glu383Asp)
c.912G>C (p.Glu304Asp)
c.555G>C (p.Glu185Asp)
c.1041G>C (p.Glu347Asp)
12g.11885949G>TCA384044855ETV6c.1176G>T (p.Glu392Asp)
c.13G>T
c.1173G>T (p.Glu391Asp)
c.1149G>T (p.Glu383Asp)
c.912G>T (p.Glu304Asp)
c.555G>T (p.Glu185Asp)
c.1041G>T (p.Glu347Asp)
12g.11885950A>CCA384044856ETV6c.1177A>C (p.Lys393Gln)
c.14A>C
c.1174A>C (p.Lys392Gln)
c.1150A>C (p.Lys384Gln)
c.913A>C (p.Lys305Gln)
c.556A>C (p.Lys186Gln)
c.1042A>C (p.Lys348Gln)
12g.11885950A>GCA384044857ETV6c.1177A>G (p.Lys393Glu)
c.14A>G
c.1174A>G (p.Lys392Glu)
c.1150A>G (p.Lys384Glu)
c.913A>G (p.Lys305Glu)
c.556A>G (p.Lys186Glu)
c.1042A>G (p.Lys348Glu)
12g.11885950A>TCA384044858ETV6c.1177A>T (p.Lys393Ter)
c.14A>T
c.1174A>T (p.Lys392Ter)
c.1150A>T (p.Lys384Ter)
c.913A>T (p.Lys305Ter)
c.556A>T (p.Lys186Ter)
c.1042A>T (p.Lys348Ter)
12g.11885951A>CCA384044859ETV6c.1178A>C (p.Lys393Thr)
c.15A>C
c.1175A>C (p.Lys392Thr)
c.1151A>C (p.Lys384Thr)
c.914A>C (p.Lys305Thr)
c.557A>C (p.Lys186Thr)
c.1043A>C (p.Lys348Thr)
12g.11885951A>GCA384044860ETV6c.1178A>G (p.Lys393Arg)
c.15A>G
c.1175A>G (p.Lys392Arg)
c.1151A>G (p.Lys384Arg)
c.914A>G (p.Lys305Arg)
c.557A>G (p.Lys186Arg)
c.1043A>G (p.Lys348Arg)
12g.11885951A>TCA384044861ETV6c.1178A>T (p.Lys393Ile)
c.15A>T
c.1175A>T (p.Lys392Ile)
c.1151A>T (p.Lys384Ile)
c.914A>T (p.Lys305Ile)
c.557A>T (p.Lys186Ile)
c.1043A>T (p.Lys348Ile)
12g.11885952A=CA2016648594ETV6c.1179A= (p.Lys393=)
c.16A=
c.1176A= (p.Lys392=)
c.1152A= (p.Lys384=)
c.915A= (p.Lys305=)
c.558A= (p.Lys186=)
c.1044A= (p.Lys348=)
12g.11885952A>CCA384044862ETV6c.1179A>C (p.Lys393Asn)
c.16A>C
c.1176A>C (p.Lys392Asn)
c.1152A>C (p.Lys384Asn)
c.915A>C (p.Lys305Asn)
c.558A>C (p.Lys186Asn)
c.1044A>C (p.Lys348Asn)
12g.11885952A>GCA478767203ETV6c.1179A>G (p.Lys393=)
c.16A>G
c.1176A>G (p.Lys392=)
c.1152A>G (p.Lys384=)
c.915A>G (p.Lys305=)
c.558A>G (p.Lys186=)
c.1044A>G (p.Lys348=)
dbSNP gnomAD v4
12g.11885952A>TCA384044863ETV6c.1179A>T (p.Lys393Asn)
c.16A>T
c.1176A>T (p.Lys392Asn)
c.1152A>T (p.Lys384Asn)
c.915A>T (p.Lys305Asn)
c.558A>T (p.Lys186Asn)
c.1044A>T (p.Lys348Asn)
12g.11885953A>CCA384044864ETV6c.1180A>C (p.Met394Leu)
c.17A>C
c.1177A>C (p.Met393Leu)
c.1153A>C (p.Met385Leu)
c.916A>C (p.Met306Leu)
c.559A>C (p.Met187Leu)
c.1045A>C (p.Met349Leu)
12g.11885953A>GCA384044865ETV6c.1180A>G (p.Met394Val)
c.17A>G
c.1177A>G (p.Met393Val)
c.1153A>G (p.Met385Val)
c.916A>G (p.Met306Val)
c.559A>G (p.Met187Val)
c.1045A>G (p.Met349Val)
gnomAD v4
12g.11885953A>TCA384044866ETV6c.1180A>T (p.Met394Leu)
c.17A>T
c.1177A>T (p.Met393Leu)
c.1153A>T (p.Met385Leu)
c.916A>T (p.Met306Leu)
c.559A>T (p.Met187Leu)
c.1045A>T (p.Met349Leu)
12g.11885954T>ACA384044867ETV6c.1181T>A (p.Met394Lys)
c.18T>A
c.1178T>A (p.Met393Lys)
c.1154T>A (p.Met385Lys)
c.917T>A (p.Met306Lys)
c.560T>A (p.Met187Lys)
c.1046T>A (p.Met349Lys)
12g.11885954T>CCA384044868ETV6c.1181T>C (p.Met394Thr)
c.18T>C
c.1178T>C (p.Met393Thr)
c.1154T>C (p.Met385Thr)
c.917T>C (p.Met306Thr)
c.560T>C (p.Met187Thr)
c.1046T>C (p.Met349Thr)
12g.11885954T>GCA384044869ETV6c.1181T>G (p.Met394Arg)
c.18T>G
c.1178T>G (p.Met393Arg)
c.1154T>G (p.Met385Arg)
c.917T>G (p.Met306Arg)
c.560T>G (p.Met187Arg)
c.1046T>G (p.Met349Arg)
12g.11885955G>ACA384044870ETV6c.1182G>A (p.Met394Ile)
c.19G>A
c.1179G>A (p.Met393Ile)
c.1155G>A (p.Met385Ile)
c.918G>A (p.Met306Ile)
c.561G>A (p.Met187Ile)
c.1047G>A (p.Met349Ile)
dbSNP gnomAD v3 gnomAD v4
12g.11885955G>CCA384044871ETV6c.1182G>C (p.Met394Ile)
c.19G>C
c.1179G>C (p.Met393Ile)
c.1155G>C (p.Met385Ile)
c.918G>C (p.Met306Ile)
c.561G>C (p.Met187Ile)
c.1047G>C (p.Met349Ile)
12g.11885955G=CA2016648595ETV6c.1182G= (p.Met394=)
c.19G=
c.1179G= (p.Met393=)
c.1155G= (p.Met385=)
c.918G= (p.Met306=)
c.561G= (p.Met187=)
c.1047G= (p.Met349=)
12g.11885955G>TCA384044872ETV6c.1182G>T (p.Met394Ile)
c.19G>T
c.1179G>T (p.Met393Ile)
c.1155G>T (p.Met385Ile)
c.918G>T (p.Met306Ile)
c.561G>T (p.Met187Ile)
c.1047G>T (p.Met349Ile)
12g.11885956T>ACA384044873ETV6c.1183T>A (p.Ser395Thr)
c.20T>A
c.1180T>A (p.Ser394Thr)
c.1156T>A (p.Ser386Thr)
c.919T>A (p.Ser307Thr)
c.562T>A (p.Ser188Thr)
c.1048T>A (p.Ser350Thr)
dbSNP
12g.11885956T>CCA384044874ETV6c.1183T>C (p.Ser395Pro)
c.20T>C
c.1180T>C (p.Ser394Pro)
c.1156T>C (p.Ser386Pro)
c.919T>C (p.Ser307Pro)
c.562T>C (p.Ser188Pro)
c.1048T>C (p.Ser350Pro)
12g.11885956T>GCA384044875ETV6c.1183T>G (p.Ser395Ala)
c.20T>G
c.1180T>G (p.Ser394Ala)
c.1156T>G (p.Ser386Ala)
c.919T>G (p.Ser307Ala)
c.562T>G (p.Ser188Ala)
c.1048T>G (p.Ser350Ala)
12g.11885957C>ACA384044877ETV6c.1184C>A (p.Ser395Tyr)
c.21C>A
c.1181C>A (p.Ser394Tyr)
c.1157C>A (p.Ser386Tyr)
c.920C>A (p.Ser307Tyr)
c.563C>A (p.Ser188Tyr)
c.1049C>A (p.Ser350Tyr)
12g.11885957C>GCA384044878ETV6c.1184C>G (p.Ser395Cys)
c.21C>G
c.1181C>G (p.Ser394Cys)
c.1157C>G (p.Ser386Cys)
c.920C>G (p.Ser307Cys)
c.563C>G (p.Ser188Cys)
c.1049C>G (p.Ser350Cys)
12g.11885957C>TCA384044876ETV6c.1184C>T (p.Ser395Phe)
c.21C>T
c.1181C>T (p.Ser394Phe)
c.1157C>T (p.Ser386Phe)
c.920C>T (p.Ser307Phe)
c.563C>T (p.Ser188Phe)
c.1049C>T (p.Ser350Phe)
dbSNP
12g.11885958C>ACA478767204ETV6c.1185C>A (p.Ser395=)
c.22C>A
c.1182C>A (p.Ser394=)
c.1158C>A (p.Ser386=)
c.921C>A (p.Ser307=)
c.564C>A (p.Ser188=)
c.1050C>A (p.Ser350=)
12g.11885958C>GCA478767205ETV6c.1185C>G (p.Ser395=)
c.22C>G
c.1182C>G (p.Ser394=)
c.1158C>G (p.Ser386=)
c.921C>G (p.Ser307=)
c.564C>G (p.Ser188=)
c.1050C>G (p.Ser350=)
gnomAD v4
12g.11885958C>TCA478767206ETV6c.1185C>T (p.Ser395=)
c.22C>T
c.1182C>T (p.Ser394=)
c.1158C>T (p.Ser386=)
c.921C>T (p.Ser307=)
c.564C>T (p.Ser188=)
c.1050C>T (p.Ser350=)
gnomAD v4
12g.11885959A>CCA478767207ETV6c.1186A>C (p.Arg396=)
c.23A>C
c.1183A>C (p.Arg395=)
c.1159A>C (p.Arg387=)
c.922A>C (p.Arg308=)
c.565A>C (p.Arg189=)
c.1051A>C (p.Arg351=)
12g.11885959A>GCA384044880ETV6c.1186A>G (p.Arg396Gly)
c.23A>G
c.1183A>G (p.Arg395Gly)
c.1159A>G (p.Arg387Gly)
c.922A>G (p.Arg308Gly)
c.565A>G (p.Arg189Gly)
c.1051A>G (p.Arg351Gly)
dbSNP COSMIC
12g.11885959A>TCA384044879ETV6c.1186A>T (p.Arg396Ter)
c.23A>T
c.1183A>T (p.Arg395Ter)
c.1159A>T (p.Arg387Ter)
c.922A>T (p.Arg308Ter)
c.565A>T (p.Arg189Ter)
c.1051A>T (p.Arg351Ter)
12g.11885960G>ACA384044883ETV6c.1187G>A (p.Arg396Lys)
c.24G>A
c.1184G>A (p.Arg395Lys)
c.1160G>A (p.Arg387Lys)
c.923G>A (p.Arg308Lys)
c.566G>A (p.Arg189Lys)
c.1052G>A (p.Arg351Lys)
12g.11885960G>CCA384044881ETV6c.1187G>C (p.Arg396Thr)
c.24G>C
c.1184G>C (p.Arg395Thr)
c.1160G>C (p.Arg387Thr)
c.923G>C (p.Arg308Thr)
c.566G>C (p.Arg189Thr)
c.1052G>C (p.Arg351Thr)
COSMIC
12g.11885960G>TCA384044882ETV6c.1187G>T (p.Arg396Ile)
c.24G>T
c.1184G>T (p.Arg395Ile)
c.1160G>T (p.Arg387Ile)
c.923G>T (p.Arg308Ile)
c.566G>T (p.Arg189Ile)
c.1052G>T (p.Arg351Ile)
12g.11885961A>CCA384044884ETV6c.1188A>C (p.Arg396Ser)
c.25A>C
c.1185A>C (p.Arg395Ser)
c.1161A>C (p.Arg387Ser)
c.924A>C (p.Arg308Ser)
c.567A>C (p.Arg189Ser)
c.1053A>C (p.Arg351Ser)
12g.11885961A>GCA478767208ETV6c.1188A>G (p.Arg396=)
c.25A>G
c.1185A>G (p.Arg395=)
c.1161A>G (p.Arg387=)
c.924A>G (p.Arg308=)
c.567A>G (p.Arg189=)
c.1053A>G (p.Arg351=)
12g.11885961A>TCA384044885ETV6c.1188A>T (p.Arg396Ser)
c.25A>T
c.1185A>T (p.Arg395Ser)
c.1161A>T (p.Arg387Ser)
c.924A>T (p.Arg308Ser)
c.567A>T (p.Arg189Ser)
c.1053A>T (p.Arg351Ser)
12g.11885962G>ACA384044886ETV6c.1189G>A (p.Ala397Thr)
c.26G>A
c.1186G>A (p.Ala396Thr)
c.1162G>A (p.Ala388Thr)
c.925G>A (p.Ala309Thr)
c.568G>A (p.Ala190Thr)
c.1054G>A (p.Ala352Thr)
12g.11885962G>CCA384044887ETV6c.1189G>C (p.Ala397Pro)
c.26G>C
c.1186G>C (p.Ala396Pro)
c.1162G>C (p.Ala388Pro)
c.925G>C (p.Ala309Pro)
c.568G>C (p.Ala190Pro)
c.1054G>C (p.Ala352Pro)
dbSNP
12g.11885962G>TCA384044888ETV6c.1189G>T (p.Ala397Ser)
c.26G>T
c.1186G>T (p.Ala396Ser)
c.1162G>T (p.Ala388Ser)
c.925G>T (p.Ala309Ser)
c.568G>T (p.Ala190Ser)
c.1054G>T (p.Ala352Ser)
12g.11885963C>ACA384044889ETV6c.1190C>A (p.Ala397Asp)
c.27C>A
c.1187C>A (p.Ala396Asp)
c.1163C>A (p.Ala388Asp)
c.926C>A (p.Ala309Asp)
c.569C>A (p.Ala190Asp)
c.1055C>A (p.Ala352Asp)
12g.11885963C>GCA384044890ETV6c.1190C>G (p.Ala397Gly)
c.27C>G
c.1187C>G (p.Ala396Gly)
c.1163C>G (p.Ala388Gly)
c.926C>G (p.Ala309Gly)
c.569C>G (p.Ala190Gly)
c.1055C>G (p.Ala352Gly)
dbSNP
12g.11885963C>TCA384044891ETV6c.1190C>T (p.Ala397Val)
c.27C>T
c.1187C>T (p.Ala396Val)
c.1163C>T (p.Ala388Val)
c.926C>T (p.Ala309Val)
c.569C>T (p.Ala190Val)
c.1055C>T (p.Ala352Val)
ClinVar dbSNP COSMIC
12g.11885964C>ACA478767209ETV6c.1191C>A (p.Ala397=)
c.28C>A
c.1188C>A (p.Ala396=)
c.1164C>A (p.Ala388=)
c.927C>A (p.Ala309=)
c.570C>A (p.Ala190=)
c.1056C>A (p.Ala352=)
dbSNP
12g.11885964C>GCA478767210ETV6c.1191C>G (p.Ala397=)
c.28C>G
c.1188C>G (p.Ala396=)
c.1164C>G (p.Ala388=)
c.927C>G (p.Ala309=)
c.570C>G (p.Ala190=)
c.1056C>G (p.Ala352=)
12g.11885964C>TCA478767211ETV6c.1191C>T (p.Ala397=)
c.28C>T
c.1188C>T (p.Ala396=)
c.1164C>T (p.Ala388=)
c.927C>T (p.Ala309=)
c.570C>T (p.Ala190=)
c.1056C>T (p.Ala352=)
12g.11885965C>ACA384044892ETV6c.1192C>A (p.Leu398Met)
c.29C>A
c.1189C>A (p.Leu397Met)
c.1165C>A (p.Leu389Met)
c.928C>A (p.Leu310Met)
c.571C>A (p.Leu191Met)
c.1057C>A (p.Leu353Met)
12g.11885965C>GCA384044893ETV6c.1192C>G (p.Leu398Val)
c.29C>G
c.1189C>G (p.Leu397Val)
c.1165C>G (p.Leu389Val)
c.928C>G (p.Leu310Val)
c.571C>G (p.Leu191Val)
c.1057C>G (p.Leu353Val)
12g.11885965C>TCA478767212ETV6c.1192C>T (p.Leu398=)
c.29C>T
c.1189C>T (p.Leu397=)
c.1165C>T (p.Leu389=)
c.928C>T (p.Leu310=)
c.571C>T (p.Leu191=)
c.1057C>T (p.Leu353=)
12g.11885966T>ACA384044894ETV6c.1193T>A (p.Leu398Gln)
c.30T>A
c.1190T>A (p.Leu397Gln)
c.1166T>A (p.Leu389Gln)
c.929T>A (p.Leu310Gln)
c.572T>A (p.Leu191Gln)
c.1058T>A (p.Leu353Gln)
COSMIC
12g.11885966T>CCA384044896ETV6c.1193T>C (p.Leu398Pro)
c.30T>C
c.1190T>C (p.Leu397Pro)
c.1166T>C (p.Leu389Pro)
c.929T>C (p.Leu310Pro)
c.572T>C (p.Leu191Pro)
c.1058T>C (p.Leu353Pro)
dbSNP
12g.11885966T>GCA384044895ETV6c.1193T>G (p.Leu398Arg)
c.30T>G
c.1190T>G (p.Leu397Arg)
c.1166T>G (p.Leu389Arg)
c.929T>G (p.Leu310Arg)
c.572T>G (p.Leu191Arg)
c.1058T>G (p.Leu353Arg)
12g.11885967G>ACA6454428ETV6c.1194G>A (p.Leu398=)
c.31G>A
c.1191G>A (p.Leu397=)
c.1167G>A (p.Leu389=)
c.930G>A (p.Leu310=)
c.573G>A (p.Leu191=)
c.1059G>A (p.Leu353=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.11885967G>CCA478767214ETV6c.1194G>C (p.Leu398=)
c.31G>C
c.1191G>C (p.Leu397=)
c.1167G>C (p.Leu389=)
c.930G>C (p.Leu310=)
c.573G>C (p.Leu191=)
c.1059G>C (p.Leu353=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.11885967G=CA2016648596ETV6c.1194G= (p.Leu398=)
c.31G=
c.1191G= (p.Leu397=)
c.1167G= (p.Leu389=)
c.930G= (p.Leu310=)
c.573G= (p.Leu191=)
c.1059G= (p.Leu353=)
12g.11885967G>TCA478767213ETV6c.1194G>T (p.Leu398=)
c.31G>T
c.1191G>T (p.Leu397=)
c.1167G>T (p.Leu389=)
c.930G>T (p.Leu310=)
c.573G>T (p.Leu191=)
c.1059G>T (p.Leu353=)
12g.11885968C>ACA384044897ETV6c.1195C>A (p.Arg399Ser)
c.32C>A
c.1192C>A (p.Arg398Ser)
c.1168C>A (p.Arg390Ser)
c.931C>A (p.Arg311Ser)
c.574C>A (p.Arg192Ser)
c.1060C>A (p.Arg354Ser)
dbSNP gnomAD v2 COSMIC
12g.11885968C=CA2016648597ETV6c.1195C= (p.Arg399=)
c.32C=
c.1192C= (p.Arg398=)
c.1168C= (p.Arg390=)
c.931C= (p.Arg311=)
c.574C= (p.Arg192=)
c.1060C= (p.Arg354=)
12g.11885968C>GCA384044898ETV6c.1195C>G (p.Arg399Gly)
c.32C>G
c.1192C>G (p.Arg398Gly)
c.1168C>G (p.Arg390Gly)
c.931C>G (p.Arg311Gly)
c.574C>G (p.Arg192Gly)
c.1060C>G (p.Arg354Gly)
COSMIC
12g.11885968C>TCA175025ETV6c.1195C>T (p.Arg399Cys)
c.32C>T
c.1192C>T (p.Arg398Cys)
c.1168C>T (p.Arg390Cys)
c.931C>T (p.Arg311Cys)
c.574C>T (p.Arg192Cys)
c.1060C>T (p.Arg354Cys)
ClinVar dbSNP
12g.11885969G>ACA384044899ETV6c.1196G>A (p.Arg399His)
c.33G>A
c.1193G>A (p.Arg398His)
c.1169G>A (p.Arg390His)
c.932G>A (p.Arg311His)
c.575G>A (p.Arg192His)
c.1061G>A (p.Arg354His)
ClinVar dbSNP gnomAD v4 COSMIC
12g.11885969G>CCA384044900ETV6c.1196G>C (p.Arg399Pro)
c.33G>C
c.1193G>C (p.Arg398Pro)
c.1169G>C (p.Arg390Pro)
c.932G>C (p.Arg311Pro)
c.575G>C (p.Arg192Pro)
c.1061G>C (p.Arg354Pro)
dbSNP
12g.11885969G>TCA384044901ETV6c.1196G>T (p.Arg399Leu)
c.33G>T
c.1193G>T (p.Arg398Leu)
c.1169G>T (p.Arg390Leu)
c.932G>T (p.Arg311Leu)
c.575G>T (p.Arg192Leu)
c.1061G>T (p.Arg354Leu)
12g.11885969_11885970insGGAGCA2725554085ETV6c.1196_1197insGGAG (p.His400GlufsTer27)
c.33_34insGGAG
c.1193_1194insGGAG (p.His399GlufsTer27)
c.1169_1170insGGAG (p.His391GlufsTer27)
c.932_933insGGAG (p.His312GlufsTer27)
c.575_576insGGAG (p.His193GlufsTer27)
c.1061_1062insGGAG (p.His355GlufsTer27)
dbSNP
12g.11885970C>ACA478767215ETV6c.1197C>A (p.Arg399=)
c.34C>A
c.1194C>A (p.Arg398=)
c.1170C>A (p.Arg390=)
c.933C>A (p.Arg311=)
c.576C>A (p.Arg192=)
c.1062C>A (p.Arg354=)
12g.11885970C>GCA478767216ETV6c.1197C>G (p.Arg399=)
c.34C>G
c.1194C>G (p.Arg398=)
c.1170C>G (p.Arg390=)
c.933C>G (p.Arg311=)
c.576C>G (p.Arg192=)
c.1062C>G (p.Arg354=)
12g.11885970C>TCA478767217ETV6c.1197C>T (p.Arg399=)
c.34C>T
c.1194C>T (p.Arg398=)
c.1170C>T (p.Arg390=)
c.933C>T (p.Arg311=)
c.576C>T (p.Arg192=)
c.1062C>T (p.Arg354=)
12g.11885971C>ACA384044902ETV6c.1198C>A (p.His400Asn)
c.35C>A
c.1195C>A (p.His399Asn)
c.1171C>A (p.His391Asn)
c.934C>A (p.His312Asn)
c.577C>A (p.His193Asn)
c.1063C>A (p.His355Asn)
COSMIC
12g.11885971C=CA2016648598ETV6c.1198C= (p.His400=)
c.35C=
c.1195C= (p.His399=)
c.1171C= (p.His391=)
c.934C= (p.His312=)
c.577C= (p.His193=)
c.1063C= (p.His355=)
12g.11885971C>GCA384044903ETV6c.1198C>G (p.His400Asp)
c.35C>G
c.1195C>G (p.His399Asp)
c.1171C>G (p.His391Asp)
c.934C>G (p.His312Asp)
c.577C>G (p.His193Asp)
c.1063C>G (p.His355Asp)
12g.11885971C>TCA384044904ETV6c.1198C>T (p.His400Tyr)
c.35C>T
c.1195C>T (p.His399Tyr)
c.1171C>T (p.His391Tyr)
c.934C>T (p.His312Tyr)
c.577C>T (p.His193Tyr)
c.1063C>T (p.His355Tyr)
12g.11885972A>CCA384044906ETV6c.1199A>C (p.His400Pro)
c.36A>C
c.1196A>C (p.His399Pro)
c.1172A>C (p.His391Pro)
c.935A>C (p.His312Pro)
c.578A>C (p.His193Pro)
c.1064A>C (p.His355Pro)
12g.11885972A>GCA384044907ETV6c.1199A>G (p.His400Arg)
c.36A>G
c.1196A>G (p.His399Arg)
c.1172A>G (p.His391Arg)
c.935A>G (p.His312Arg)
c.578A>G (p.His193Arg)
c.1064A>G (p.His355Arg)
12g.11885972A>TCA384044905ETV6c.1199A>T (p.His400Leu)
c.36A>T
c.1196A>T (p.His399Leu)
c.1172A>T (p.His391Leu)
c.935A>T (p.His312Leu)
c.578A>T (p.His193Leu)
c.1064A>T (p.His355Leu)
12g.11885972_11885995dupCA658797843ETV6c.1199_1222dup (p.Ile407_Arg408insAsnTyrTyrLysLeuAsnIleIle)
c.36_59dup
c.1196_1219dup (p.Ile406_Arg407insAsnTyrTyrLysLeuAsnIleIle)
c.1172_1195dup (p.Ile398_Arg399insAsnTyrTyrLysLeuAsnIleIle)
c.935_958dup (p.Ile319_Arg320insAsnTyrTyrLysLeuAsnIleIle)
c.578_601dup (p.Ile200_Arg201insAsnTyrTyrLysLeuAsnIleIle)
c.1064_1087dup (p.Ile362_Arg363insAsnTyrTyrLysLeuAsnIleIle)
ClinVar dbSNP
12g.11885972_11885973insTTAAAATAAAAGCA2725554086ETV6c.1199_1200insTTAAAATAAAAG (p.His401Ter)
c.36_37insTTAAAATAAAAG
c.1196_1197insTTAAAATAAAAG (p.His400Ter)
c.1172_1173insTTAAAATAAAAG (p.His392Ter)
c.935_936insTTAAAATAAAAG (p.His313Ter)
c.578_579insTTAAAATAAAAG (p.His194Ter)
c.1064_1065insTTAAAATAAAAG (p.His356Ter)
dbSNP
12g.11885973C>ACA384044908ETV6c.1200C>A (p.His400Gln)
c.37C>A
c.1197C>A (p.His399Gln)
c.1173C>A (p.His391Gln)
c.936C>A (p.His312Gln)
c.579C>A (p.His193Gln)
c.1065C>A (p.His355Gln)
12g.11885973C>GCA384044909ETV6c.1200C>G (p.His400Gln)
c.37C>G
c.1197C>G (p.His399Gln)
c.1173C>G (p.His391Gln)
c.936C>G (p.His312Gln)
c.579C>G (p.His193Gln)
c.1065C>G (p.His355Gln)
12g.11885973C>TCA478767218ETV6c.1200C>T (p.His400=)
c.37C>T
c.1197C>T (p.His399=)
c.1173C>T (p.His391=)
c.936C>T (p.His312=)
c.579C>T (p.His193=)
c.1065C>T (p.His355=)
gnomAD v4
12g.11885973dupCA645595231ETV6c.1200dup (p.Tyr401LeufsTer25)
c.37dup
c.1197dup (p.Tyr400LeufsTer25)
c.1173dup (p.Tyr392LeufsTer25)
c.936dup (p.Tyr313LeufsTer25)
c.579dup (p.Tyr194LeufsTer25)
c.1065dup (p.Tyr356LeufsTer25)
COSMIC
12g.11885974T>ACA384044910ETV6c.1201T>A (p.Tyr401Asn)
c.38T>A
c.1198T>A (p.Tyr400Asn)
c.1174T>A (p.Tyr392Asn)
c.937T>A (p.Tyr313Asn)
c.580T>A (p.Tyr194Asn)
c.1066T>A (p.Tyr356Asn)
12g.11885974T>CCA384044911ETV6c.1201T>C (p.Tyr401His)
c.38T>C
c.1198T>C (p.Tyr400His)
c.1174T>C (p.Tyr392His)
c.937T>C (p.Tyr313His)
c.580T>C (p.Tyr194His)
c.1066T>C (p.Tyr356His)
ClinVar dbSNP
12g.11885974T>GCA384044912ETV6c.1201T>G (p.Tyr401Asp)
c.38T>G
c.1198T>G (p.Tyr400Asp)
c.1174T>G (p.Tyr392Asp)
c.937T>G (p.Tyr313Asp)
c.580T>G (p.Tyr194Asp)
c.1066T>G (p.Tyr356Asp)
12g.11885974T=CA2016648599ETV6c.1201T= (p.Tyr401=)
c.38T=
c.1198T= (p.Tyr400=)
c.1174T= (p.Tyr392=)
c.937T= (p.Tyr313=)
c.580T= (p.Tyr194=)
c.1066T= (p.Tyr356=)
12g.11885975A>CCA384044913ETV6c.1202A>C (p.Tyr401Ser)
c.39A>C
c.1199A>C (p.Tyr400Ser)
c.1175A>C (p.Tyr392Ser)
c.938A>C (p.Tyr313Ser)
c.581A>C (p.Tyr194Ser)
c.1067A>C (p.Tyr356Ser)
12g.11885975A>GCA384044914ETV6c.1202A>G (p.Tyr401Cys)
c.39A>G
c.1199A>G (p.Tyr400Cys)
c.1175A>G (p.Tyr392Cys)
c.938A>G (p.Tyr313Cys)
c.581A>G (p.Tyr194Cys)
c.1067A>G (p.Tyr356Cys)
ClinVar COSMIC
12g.11885975A>TCA384044915ETV6c.1202A>T (p.Tyr401Phe)
c.39A>T
c.1199A>T (p.Tyr400Phe)
c.1175A>T (p.Tyr392Phe)
c.938A>T (p.Tyr313Phe)
c.581A>T (p.Tyr194Phe)
c.1067A>T (p.Tyr356Phe)
12g.11885976C>ACA384044916ETV6c.1203C>A (p.Tyr401Ter)
c.40C>A
c.1200C>A (p.Tyr400Ter)
c.1176C>A (p.Tyr392Ter)
c.939C>A (p.Tyr313Ter)
c.582C>A (p.Tyr194Ter)
c.1068C>A (p.Tyr356Ter)
12g.11885976C>GCA384044917ETV6c.1203C>G (p.Tyr401Ter)
c.40C>G
c.1200C>G (p.Tyr400Ter)
c.1176C>G (p.Tyr392Ter)
c.939C>G (p.Tyr313Ter)
c.582C>G (p.Tyr194Ter)
c.1068C>G (p.Tyr356Ter)
12g.11885976C>TCA478767219ETV6c.1203C>T (p.Tyr401=)
c.40C>T
c.1200C>T (p.Tyr400=)
c.1176C>T (p.Tyr392=)
c.939C>T (p.Tyr313=)
c.582C>T (p.Tyr194=)
c.1068C>T (p.Tyr356=)
12g.11885977T>ACA384044918ETV6c.1204T>A (p.Tyr402Asn)
c.41T>A
c.1201T>A (p.Tyr401Asn)
c.1177T>A (p.Tyr393Asn)
c.940T>A (p.Tyr314Asn)
c.583T>A (p.Tyr195Asn)
c.1069T>A (p.Tyr357Asn)
12g.11885977T>CCA384044919ETV6c.1204T>C (p.Tyr402His)
c.41T>C
c.1201T>C (p.Tyr401His)
c.1177T>C (p.Tyr393His)
c.940T>C (p.Tyr314His)
c.583T>C (p.Tyr195His)
c.1069T>C (p.Tyr357His)
12g.11885977T>GCA384044920ETV6c.1204T>G (p.Tyr402Asp)
c.41T>G
c.1201T>G (p.Tyr401Asp)
c.1177T>G (p.Tyr393Asp)
c.940T>G (p.Tyr314Asp)
c.583T>G (p.Tyr195Asp)
c.1069T>G (p.Tyr357Asp)

Number of alleles fetched