Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.101918002_101918030del | CA2578154636 | BANK1 | c.1019_1047del (p.Phe340CysfsTer24) c.620_648del (p.Phe207CysfsTer24) c.929_957del (p.Phe310CysfsTer24) c.974_1002del (p.Phe325CysfsTer24) | |
4 | g.101918002T>A | CA357955662 | BANK1 | c.1019T>A (p.Phe340Tyr) c.620T>A (p.Phe207Tyr) c.929T>A (p.Phe310Tyr) c.974T>A (p.Phe325Tyr) | |
4 | g.101918002T>C | CA357955665 | BANK1 | c.1019T>C (p.Phe340Ser) c.620T>C (p.Phe207Ser) c.929T>C (p.Phe310Ser) c.974T>C (p.Phe325Ser) | gnomAD v4 |
4 | g.101918002T>G | CA357955669 | BANK1 | c.1019T>G (p.Phe340Cys) c.620T>G (p.Phe207Cys) c.929T>G (p.Phe310Cys) c.974T>G (p.Phe325Cys) | |
4 | g.101918003C>A | CA357955674 | BANK1 | c.1020C>A (p.Phe340Leu) c.621C>A (p.Phe207Leu) c.930C>A (p.Phe310Leu) c.975C>A (p.Phe325Leu) | gnomAD v4 |
4 | g.101918003C>G | CA357955676 | BANK1 | c.1020C>G (p.Phe340Leu) c.621C>G (p.Phe207Leu) c.930C>G (p.Phe310Leu) c.975C>G (p.Phe325Leu) | |
4 | g.101918003C>T | CA440606547 | BANK1 | c.1020C>T (p.Phe340=) c.621C>T (p.Phe207=) c.930C>T (p.Phe310=) c.975C>T (p.Phe325=) | |
4 | g.101918003_101918004delinsCA | CA1481138647 | BANK1 | c.1020_1021delinsCA (p.Phe340=) c.621_622delinsCA (p.Phe207=) c.930_931delinsCA (p.Phe310=) c.975_976delinsCA (p.Phe325=) | |
4 | g.101918004A>C | CA357955690 | BANK1 | c.1021A>C (p.Lys341Gln) c.622A>C (p.Lys208Gln) c.931A>C (p.Lys311Gln) c.976A>C (p.Lys326Gln) | |
4 | g.101918004A>G | CA357955687 | BANK1 | c.1021A>G (p.Lys341Glu) c.622A>G (p.Lys208Glu) c.931A>G (p.Lys311Glu) c.976A>G (p.Lys326Glu) | |
4 | g.101918004A>T | CA357955684 | BANK1 | c.1021A>T (p.Lys341Ter) c.622A>T (p.Lys208Ter) c.931A>T (p.Lys311Ter) c.976A>T (p.Lys326Ter) | |
4 | g.101918006del | CA3025000 | BANK1 | c.1023del (p.Glu342AsnfsTer14) c.624del (p.Glu209AsnfsTer14) c.933del (p.Glu312AsnfsTer14) c.978del (p.Glu327AsnfsTer14) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101918005A>C | CA357955694 | BANK1 | c.1022A>C (p.Lys341Thr) c.623A>C (p.Lys208Thr) c.932A>C (p.Lys311Thr) c.977A>C (p.Lys326Thr) | |
4 | g.101918005A>G | CA357955698 | BANK1 | c.1022A>G (p.Lys341Arg) c.623A>G (p.Lys208Arg) c.932A>G (p.Lys311Arg) c.977A>G (p.Lys326Arg) | |
4 | g.101918005A>T | CA357955701 | BANK1 | c.1022A>T (p.Lys341Ile) c.623A>T (p.Lys208Ile) c.932A>T (p.Lys311Ile) c.977A>T (p.Lys326Ile) | |
4 | g.101918006A>C | CA357955704 | BANK1 | c.1023A>C (p.Lys341Asn) c.624A>C (p.Lys208Asn) c.933A>C (p.Lys311Asn) c.978A>C (p.Lys326Asn) | |
4 | g.101918006A>G | CA440606548 | BANK1 | c.1023A>G (p.Lys341=) c.624A>G (p.Lys208=) c.933A>G (p.Lys311=) c.978A>G (p.Lys326=) | |
4 | g.101918006A>T | CA357955707 | BANK1 | c.1023A>T (p.Lys341Asn) c.624A>T (p.Lys208Asn) c.933A>T (p.Lys311Asn) c.978A>T (p.Lys326Asn) | gnomAD v4 |
4 | g.101918007G>A | CA357955712 | BANK1 | c.1024G>A (p.Glu342Lys) c.625G>A (p.Glu209Lys) c.934G>A (p.Glu312Lys) c.979G>A (p.Glu327Lys) | |
4 | g.101918007G>C | CA357955715 | BANK1 | c.1024G>C (p.Glu342Gln) c.625G>C (p.Glu209Gln) c.934G>C (p.Glu312Gln) c.979G>C (p.Glu327Gln) | |
4 | g.101918007G= | CA1481138648 | BANK1 | c.1024G= (p.Glu342=) c.625G= (p.Glu209=) c.934G= (p.Glu312=) c.979G= (p.Glu327=) | |
4 | g.101918007G>T | CA357955718 | BANK1 | c.1024G>T (p.Glu342Ter) c.625G>T (p.Glu209Ter) c.934G>T (p.Glu312Ter) c.979G>T (p.Glu327Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.101918008A>C | CA357955722 | BANK1 | c.1025A>C (p.Glu342Ala) c.626A>C (p.Glu209Ala) c.935A>C (p.Glu312Ala) c.980A>C (p.Glu327Ala) | |
4 | g.101918008A>G | CA357955725 | BANK1 | c.1025A>G (p.Glu342Gly) c.626A>G (p.Glu209Gly) c.935A>G (p.Glu312Gly) c.980A>G (p.Glu327Gly) | |
4 | g.101918008A>T | CA357955728 | BANK1 | c.1025A>T (p.Glu342Val) c.626A>T (p.Glu209Val) c.935A>T (p.Glu312Val) c.980A>T (p.Glu327Val) | |
4 | g.101918009A>C | CA357955732 | BANK1 | c.1026A>C (p.Glu342Asp) c.627A>C (p.Glu209Asp) c.936A>C (p.Glu312Asp) c.981A>C (p.Glu327Asp) | |
4 | g.101918009A>G | CA440606551 | BANK1 | c.1026A>G (p.Glu342=) c.627A>G (p.Glu209=) c.936A>G (p.Glu312=) c.981A>G (p.Glu327=) | gnomAD v4 |
4 | g.101918009A>T | CA357955735 | BANK1 | c.1026A>T (p.Glu342Asp) c.627A>T (p.Glu209Asp) c.936A>T (p.Glu312Asp) c.981A>T (p.Glu327Asp) | |
4 | g.101918010C>A | CA357955740 | BANK1 | c.1027C>A (p.Leu343Ile) c.628C>A (p.Leu210Ile) c.937C>A (p.Leu313Ile) c.982C>A (p.Leu328Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101918010C= | CA1481138649 | BANK1 | c.1027C= (p.Leu343=) c.628C= (p.Leu210=) c.937C= (p.Leu313=) c.982C= (p.Leu328=) | |
4 | g.101918010C>G | CA357955743 | BANK1 | c.1027C>G (p.Leu343Val) c.628C>G (p.Leu210Val) c.937C>G (p.Leu313Val) c.982C>G (p.Leu328Val) | |
4 | g.101918010C>T | CA357955737 | BANK1 | c.1027C>T (p.Leu343Phe) c.628C>T (p.Leu210Phe) c.937C>T (p.Leu313Phe) c.982C>T (p.Leu328Phe) | |
4 | g.101918011T>A | CA357955750 | BANK1 | c.1028T>A (p.Leu343His) c.629T>A (p.Leu210His) c.938T>A (p.Leu313His) c.983T>A (p.Leu328His) | |
4 | g.101918011T>C | CA357955744 | BANK1 | c.1028T>C (p.Leu343Pro) c.629T>C (p.Leu210Pro) c.938T>C (p.Leu313Pro) c.983T>C (p.Leu328Pro) | |
4 | g.101918011T>G | CA357955747 | BANK1 | c.1028T>G (p.Leu343Arg) c.629T>G (p.Leu210Arg) c.938T>G (p.Leu313Arg) c.983T>G (p.Leu328Arg) | |
4 | g.101918012T>A | CA440606555 | BANK1 | c.1029T>A (p.Leu343=) c.630T>A (p.Leu210=) c.939T>A (p.Leu313=) c.984T>A (p.Leu328=) | dbSNP |
4 | g.101918012T>C | CA440606552 | BANK1 | c.1029T>C (p.Leu343=) c.630T>C (p.Leu210=) c.939T>C (p.Leu313=) c.984T>C (p.Leu328=) | dbSNP gnomAD v4 |
4 | g.101918012T>G | CA440606553 | BANK1 | c.1029T>G (p.Leu343=) c.630T>G (p.Leu210=) c.939T>G (p.Leu313=) c.984T>G (p.Leu328=) | dbSNP gnomAD v4 |
4 | g.101918012T= | CA1481138650 | BANK1 | c.1029T= (p.Leu343=) c.630T= (p.Leu210=) c.939T= (p.Leu313=) c.984T= (p.Leu328=) | |
4 | g.101918013C>A | CA3025002 | BANK1 | c.1030C>A (p.Pro344Thr) c.631C>A (p.Pro211Thr) c.940C>A (p.Pro314Thr) c.985C>A (p.Pro329Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101918013C= | CA1481138651 | BANK1 | c.1030C= (p.Pro344=) c.631C= (p.Pro211=) c.940C= (p.Pro314=) c.985C= (p.Pro329=) | |
4 | g.101918013C>G | CA3025001 | BANK1 | c.1030C>G (p.Pro344Ala) c.631C>G (p.Pro211Ala) c.940C>G (p.Pro314Ala) c.985C>G (p.Pro329Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101918013C>T | CA357955760 | BANK1 | c.1030C>T (p.Pro344Ser) c.631C>T (p.Pro211Ser) c.940C>T (p.Pro314Ser) c.985C>T (p.Pro329Ser) | COSMIC |
4 | g.101918014C>A | CA357955765 | BANK1 | c.1031C>A (p.Pro344Gln) c.632C>A (p.Pro211Gln) c.941C>A (p.Pro314Gln) c.986C>A (p.Pro329Gln) | |
4 | g.101918014C>G | CA357955767 | BANK1 | c.1031C>G (p.Pro344Arg) c.632C>G (p.Pro211Arg) c.941C>G (p.Pro314Arg) c.986C>G (p.Pro329Arg) | |
4 | g.101918014C>T | CA357955769 | BANK1 | c.1031C>T (p.Pro344Leu) c.632C>T (p.Pro211Leu) c.941C>T (p.Pro314Leu) c.986C>T (p.Pro329Leu) | gnomAD v4 |
4 | g.101918015A= | CA1481138652 | BANK1 | c.1032A= (p.Pro344=) c.633A= (p.Pro211=) c.942A= (p.Pro314=) c.987A= (p.Pro329=) | |
4 | g.101918015A>C | CA3025003 | BANK1 | c.1032A>C (p.Pro344=) c.633A>C (p.Pro211=) c.942A>C (p.Pro314=) c.987A>C (p.Pro329=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.101918015A>G | CA440606557 | BANK1 | c.1032A>G (p.Pro344=) c.633A>G (p.Pro211=) c.942A>G (p.Pro314=) c.987A>G (p.Pro329=) | |
4 | g.101918015A>T | CA440606556 | BANK1 | c.1032A>T (p.Pro344=) c.633A>T (p.Pro211=) c.942A>T (p.Pro314=) c.987A>T (p.Pro329=) |