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.101918030T>A | CA357955857 | BANK1 | c.1047T>A (p.Cys349Ter) c.648T>A (p.Cys216Ter) c.957T>A (p.Cys319Ter) c.1002T>A (p.Cys334Ter) | |
4 | g.101918030T>C | CA440606572 | BANK1 | c.1047T>C (p.Cys349=) c.648T>C (p.Cys216=) c.957T>C (p.Cys319=) c.1002T>C (p.Cys334=) | gnomAD v4 |
4 | g.101918030T>G | CA357955864 | BANK1 | c.1047T>G (p.Cys349Trp) c.648T>G (p.Cys216Trp) c.957T>G (p.Cys319Trp) c.1002T>G (p.Cys334Trp) | |
4 | g.101918031G>A | CA357955871 | BANK1 | c.1048G>A (p.Ala350Thr) c.649G>A (p.Ala217Thr) c.958G>A (p.Ala320Thr) c.1003G>A (p.Ala335Thr) | dbSNP gnomAD v4 |
4 | g.101918031G>C | CA357955874 | BANK1 | c.1048G>C (p.Ala350Pro) c.649G>C (p.Ala217Pro) c.958G>C (p.Ala320Pro) c.1003G>C (p.Ala335Pro) | |
4 | g.101918031G= | CA1481138656 | BANK1 | c.1048G= (p.Ala350=) c.649G= (p.Ala217=) c.958G= (p.Ala320=) c.1003G= (p.Ala335=) | |
4 | g.101918031G>T | CA357955869 | BANK1 | c.1048G>T (p.Ala350Ser) c.649G>T (p.Ala217Ser) c.958G>T (p.Ala320Ser) c.1003G>T (p.Ala335Ser) | |
4 | g.101918032C>A | CA357955876 | BANK1 | c.1049C>A (p.Ala350Glu) c.650C>A (p.Ala217Glu) c.959C>A (p.Ala320Glu) c.1004C>A (p.Ala335Glu) | |
4 | g.101918032C= | CA1481138657 | BANK1 | c.1049C= (p.Ala350=) c.650C= (p.Ala217=) c.959C= (p.Ala320=) c.1004C= (p.Ala335=) | |
4 | g.101918032C>G | CA357955878 | BANK1 | c.1049C>G (p.Ala350Gly) c.650C>G (p.Ala217Gly) c.959C>G (p.Ala320Gly) c.1004C>G (p.Ala335Gly) | |
4 | g.101918032C>T | CA3025006 | BANK1 | c.1049C>T (p.Ala350Val) c.650C>T (p.Ala217Val) c.959C>T (p.Ala320Val) c.1004C>T (p.Ala335Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.101918033A= | CA1481138658 | BANK1 | c.1050A= (p.Ala350=) c.651A= (p.Ala217=) c.960A= (p.Ala320=) c.1005A= (p.Ala335=) | |
4 | g.101918033A>C | CA440606577 | BANK1 | c.1050A>C (p.Ala350=) c.651A>C (p.Ala217=) c.960A>C (p.Ala320=) c.1005A>C (p.Ala335=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.101918033A>G | CA440606578 | BANK1 | c.1050A>G (p.Ala350=) c.651A>G (p.Ala217=) c.960A>G (p.Ala320=) c.1005A>G (p.Ala335=) | gnomAD v4 |
4 | g.101918033A>T | CA440606579 | BANK1 | c.1050A>T (p.Ala350=) c.651A>T (p.Ala217=) c.960A>T (p.Ala320=) c.1005A>T (p.Ala335=) | |
4 | g.101918034G>A | CA357955881 | BANK1 | c.1051G>A (p.Ala351Thr) c.652G>A (p.Ala218Thr) c.961G>A (p.Ala321Thr) c.1006G>A (p.Ala336Thr) | gnomAD v4 |
4 | g.101918034G>C | CA357955883 | BANK1 | c.1051G>C (p.Ala351Pro) c.652G>C (p.Ala218Pro) c.961G>C (p.Ala321Pro) c.1006G>C (p.Ala336Pro) | |
4 | g.101918034G>T | CA357955885 | BANK1 | c.1051G>T (p.Ala351Ser) c.652G>T (p.Ala218Ser) c.961G>T (p.Ala321Ser) c.1006G>T (p.Ala336Ser) | |
4 | g.101918035C>A | CA3025007 | BANK1 | c.1052C>A (p.Ala351Glu) c.653C>A (p.Ala218Glu) c.962C>A (p.Ala321Glu) c.1007C>A (p.Ala336Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101918035C= | CA1481138659 | BANK1 | c.1052C= (p.Ala351=) c.653C= (p.Ala218=) c.962C= (p.Ala321=) c.1007C= (p.Ala336=) | |
4 | g.101918035C>G | CA357955890 | BANK1 | c.1052C>G (p.Ala351Gly) c.653C>G (p.Ala218Gly) c.962C>G (p.Ala321Gly) c.1007C>G (p.Ala336Gly) | |
4 | g.101918035C>T | CA357955892 | BANK1 | c.1052C>T (p.Ala351Val) c.653C>T (p.Ala218Val) c.962C>T (p.Ala321Val) c.1007C>T (p.Ala336Val) | |
4 | g.101918036A>C | CA440606580 | BANK1 | c.1053A>C (p.Ala351=) c.654A>C (p.Ala218=) c.963A>C (p.Ala321=) c.1008A>C (p.Ala336=) | |
4 | g.101918036A>G | CA440606581 | BANK1 | c.1053A>G (p.Ala351=) c.654A>G (p.Ala218=) c.963A>G (p.Ala321=) c.1008A>G (p.Ala336=) | |
4 | g.101918036A>T | CA440606582 | BANK1 | c.1053A>T (p.Ala351=) c.654A>T (p.Ala218=) c.963A>T (p.Ala321=) c.1008A>T (p.Ala336=) | |
4 | g.101918037A= | CA1481138660 | BANK1 | c.1054A= (p.Lys352=) c.655A= (p.Lys219=) c.964A= (p.Lys322=) c.1009A= (p.Lys337=) | |
4 | g.101918037A>C | CA357955897 | BANK1 | c.1054A>C (p.Lys352Gln) c.655A>C (p.Lys219Gln) c.964A>C (p.Lys322Gln) c.1009A>C (p.Lys337Gln) | |
4 | g.101918037A>G | CA103070468 | BANK1 | c.1054A>G (p.Lys352Glu) c.655A>G (p.Lys219Glu) c.964A>G (p.Lys322Glu) c.1009A>G (p.Lys337Glu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.101918037A>T | CA357955899 | BANK1 | c.1054A>T (p.Lys352Ter) c.655A>T (p.Lys219Ter) c.964A>T (p.Lys322Ter) c.1009A>T (p.Lys337Ter) | |
4 | g.101918038A>C | CA357955902 | BANK1 | c.1055A>C (p.Lys352Thr) c.656A>C (p.Lys219Thr) c.965A>C (p.Lys322Thr) c.1010A>C (p.Lys337Thr) | |
4 | g.101918038A>G | CA357955904 | BANK1 | c.1055A>G (p.Lys352Arg) c.656A>G (p.Lys219Arg) c.965A>G (p.Lys322Arg) c.1010A>G (p.Lys337Arg) | |
4 | g.101918038A>T | CA357955906 | BANK1 | c.1055A>T (p.Lys352Ile) c.656A>T (p.Lys219Ile) c.965A>T (p.Lys322Ile) c.1010A>T (p.Lys337Ile) | |
4 | g.101918039A>C | CA357955907 | BANK1 | c.1056A>C (p.Lys352Asn) c.657A>C (p.Lys219Asn) c.966A>C (p.Lys322Asn) c.1011A>C (p.Lys337Asn) | gnomAD v4 |
4 | g.101918039A>G | CA440606583 | BANK1 | c.1056A>G (p.Lys352=) c.657A>G (p.Lys219=) c.966A>G (p.Lys322=) c.1011A>G (p.Lys337=) | |
4 | g.101918039A>T | CA357955909 | BANK1 | c.1056A>T (p.Lys352Asn) c.657A>T (p.Lys219Asn) c.966A>T (p.Lys322Asn) c.1011A>T (p.Lys337Asn) | |
4 | g.101918040T>A | CA357955910 | BANK1 | c.1057T>A (p.Phe353Ile) c.658T>A (p.Phe220Ile) c.967T>A (p.Phe323Ile) c.1012T>A (p.Phe338Ile) | gnomAD v4 |
4 | g.101918040T>C | CA357955911 | BANK1 | c.1057T>C (p.Phe353Leu) c.658T>C (p.Phe220Leu) c.967T>C (p.Phe323Leu) c.1012T>C (p.Phe338Leu) | |
4 | g.101918040T>G | CA103070469 | BANK1 | c.1057T>G (p.Phe353Val) c.658T>G (p.Phe220Val) c.967T>G (p.Phe323Val) c.1012T>G (p.Phe338Val) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.101918040T= | CA1481138661 | BANK1 | c.1057T= (p.Phe353=) c.658T= (p.Phe220=) c.967T= (p.Phe323=) c.1012T= (p.Phe338=) | |
4 | g.101918041T>A | CA357955914 | BANK1 | c.1058T>A (p.Phe353Tyr) c.659T>A (p.Phe220Tyr) c.968T>A (p.Phe323Tyr) c.1013T>A (p.Phe338Tyr) | |
4 | g.101918041T>C | CA357955918 | BANK1 | c.1058T>C (p.Phe353Ser) c.659T>C (p.Phe220Ser) c.968T>C (p.Phe323Ser) c.1013T>C (p.Phe338Ser) | |
4 | g.101918041T>G | CA357955916 | BANK1 | c.1058T>G (p.Phe353Cys) c.659T>G (p.Phe220Cys) c.968T>G (p.Phe323Cys) c.1013T>G (p.Phe338Cys) | gnomAD v4 |
4 | g.101918042T>A | CA357955920 | BANK1 | c.1059T>A (p.Phe353Leu) c.660T>A (p.Phe220Leu) c.969T>A (p.Phe323Leu) c.1014T>A (p.Phe338Leu) | |
4 | g.101918042T>C | CA440606587 | BANK1 | c.1059T>C (p.Phe353=) c.660T>C (p.Phe220=) c.969T>C (p.Phe323=) c.1014T>C (p.Phe338=) | |
4 | g.101918042T>G | CA357955922 | BANK1 | c.1059T>G (p.Phe353Leu) c.660T>G (p.Phe220Leu) c.969T>G (p.Phe323Leu) c.1014T>G (p.Phe338Leu) | dbSNP gnomAD v4 |
4 | g.101918042T= | CA1481138662 | BANK1 | c.1059T= (p.Phe353=) c.660T= (p.Phe220=) c.969T= (p.Phe323=) c.1014T= (p.Phe338=) | |
4 | g.101918043G>A | CA357955925 | BANK1 | c.1060G>A (p.Gly354Ser) c.661G>A (p.Gly221Ser) c.970G>A (p.Gly324Ser) c.1015G>A (p.Gly339Ser) | |
4 | g.101918043G>C | CA357955927 | BANK1 | c.1060G>C (p.Gly354Arg) c.661G>C (p.Gly221Arg) c.970G>C (p.Gly324Arg) c.1015G>C (p.Gly339Arg) | |
4 | g.101918043G>T | CA357955929 | BANK1 | c.1060G>T (p.Gly354Cys) c.661G>T (p.Gly221Cys) c.970G>T (p.Gly324Cys) c.1015G>T (p.Gly339Cys) |