Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
4 | g.101918044G>A | CA357955932 | BANK1 | c.1061G>A (p.Gly354Asp) c.662G>A (p.Gly221Asp) c.971G>A (p.Gly324Asp) c.1016G>A (p.Gly339Asp) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.101918044G>C | CA357955933 | BANK1 | c.1061G>C (p.Gly354Ala) c.662G>C (p.Gly221Ala) c.971G>C (p.Gly324Ala) c.1016G>C (p.Gly339Ala) | |
4 | g.101918044G= | CA1481138663 | BANK1 | c.1061G= (p.Gly354=) c.662G= (p.Gly221=) c.971G= (p.Gly324=) c.1016G= (p.Gly339=) | |
4 | g.101918044G>T | CA357955936 | BANK1 | c.1061G>T (p.Gly354Val) c.662G>T (p.Gly221Val) c.971G>T (p.Gly324Val) c.1016G>T (p.Gly339Val) | |
4 | g.101918045C>A | CA440606588 | BANK1 | c.1062C>A (p.Gly354=) c.663C>A (p.Gly221=) c.972C>A (p.Gly324=) c.1017C>A (p.Gly339=) | |
4 | g.101918045C= | CA1481138664 | BANK1 | c.1062C= (p.Gly354=) c.663C= (p.Gly221=) c.972C= (p.Gly324=) c.1017C= (p.Gly339=) | |
4 | g.101918045C>G | CA440606589 | BANK1 | c.1062C>G (p.Gly354=) c.663C>G (p.Gly221=) c.972C>G (p.Gly324=) c.1017C>G (p.Gly339=) | |
4 | g.101918045C>T | CA103070470 | BANK1 | c.1062C>T (p.Gly354=) c.663C>T (p.Gly221=) c.972C>T (p.Gly324=) c.1017C>T (p.Gly339=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101918046T>A | CA357955939 | BANK1 | c.1063T>A (p.Leu355Ile) c.664T>A (p.Leu222Ile) c.973T>A (p.Leu325Ile) c.1018T>A (p.Leu340Ile) | |
4 | g.101918046T>C | CA440606590 | BANK1 | c.1063T>C (p.Leu355=) c.664T>C (p.Leu222=) c.973T>C (p.Leu325=) c.1018T>C (p.Leu340=) | |
4 | g.101918046T>G | CA357955941 | BANK1 | c.1063T>G (p.Leu355Val) c.664T>G (p.Leu222Val) c.973T>G (p.Leu325Val) c.1018T>G (p.Leu340Val) | |
4 | g.101918047T>A | CA357955944 | BANK1 | c.1064T>A (p.Leu355Ter) c.665T>A (p.Leu222Ter) c.974T>A (p.Leu325Ter) c.1019T>A (p.Leu340Ter) | |
4 | g.101918047T>C | CA357955945 | BANK1 | c.1064T>C (p.Leu355Ser) c.665T>C (p.Leu222Ser) c.974T>C (p.Leu325Ser) c.1019T>C (p.Leu340Ser) | |
4 | g.101918047T>G | CA357955947 | BANK1 | c.1064T>G (p.Leu355Ter) c.665T>G (p.Leu222Ter) c.974T>G (p.Leu325Ter) c.1019T>G (p.Leu340Ter) | |
4 | g.101918048A= | CA1481138665 | BANK1 | c.1065A= (p.Leu355=) c.666A= (p.Leu222=) c.975A= (p.Leu325=) c.1020A= (p.Leu340=) | |
4 | g.101918048A>C | CA357955949 | BANK1 | c.1065A>C (p.Leu355Phe) c.666A>C (p.Leu222Phe) c.975A>C (p.Leu325Phe) c.1020A>C (p.Leu340Phe) | |
4 | g.101918048A>G | CA440606591 | BANK1 | c.1065A>G (p.Leu355=) c.666A>G (p.Leu222=) c.975A>G (p.Leu325=) c.1020A>G (p.Leu340=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.101918048A>T | CA3025008 | BANK1 | c.1065A>T (p.Leu355Phe) c.666A>T (p.Leu222Phe) c.975A>T (p.Leu325Phe) c.1020A>T (p.Leu340Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101918049A>C | CA357955954 | BANK1 | c.1066A>C (p.Lys356Gln) c.667A>C (p.Lys223Gln) c.976A>C (p.Lys326Gln) c.1021A>C (p.Lys341Gln) |