| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.101829803_101829808delinsTCCAGG | CA1481094988 | BANK1 | c.71-5_71delinsTCCAGG c.71-25232_71-25227delinsTCCAGG (n.71-25232_71-25227delinsTCCAGG) c.-20-5_-20delinsTCCAGG c.26-5_26delinsTCCAGG | |
| 4 | g.101829804_101829807del | CA2671540489 | BANK1 | c.71-4_71-1del (n.71-4_71-1del) c.71-25231_71-25228del (n.71-25231_71-25228del) c.-20-4_-20-1del (n.-20-4_-20-1del) c.26-4_26-1del (n.26-4_26-1del) | gnomAD v4 |
| 4 | g.101829804_101829808del | CA917265056 | BANK1 | c.71-4_71del c.71-25231_71-25227del (n.71-25231_71-25227del) c.-20-4_-20del c.26-4_26del | dbSNP gnomAD v4 |
| 4 | g.101829806A>C | CA357951729 | BANK1 | c.71-2A>C (n.71-2A>C) c.71-25229A>C (n.71-25229A>C) c.-20-2A>C (n.-20-2A>C) c.26-2A>C (n.26-2A>C) | |
| 4 | g.101829806A>G | CA357951730 | BANK1 | c.71-2A>G (n.71-2A>G) c.71-25229A>G (n.71-25229A>G) c.-20-2A>G (n.-20-2A>G) c.26-2A>G (n.26-2A>G) | |
| 4 | g.101829806A>T | CA357951731 | BANK1 | c.71-2A>T (n.71-2A>T) c.71-25229A>T (n.71-25229A>T) c.-20-2A>T (n.-20-2A>T) c.26-2A>T (n.26-2A>T) | gnomAD v4 |
| 4 | g.101829807G>A | CA103060853 | BANK1 | c.71-1G>A (n.71-1G>A) c.71-25228G>A (n.71-25228G>A) c.-20-1G>A (n.-20-1G>A) c.26-1G>A (n.26-1G>A) | dbSNP |
| 4 | g.101829807G>C | CA357951732 | BANK1 | c.71-1G>C (n.71-1G>C) c.71-25228G>C (n.71-25228G>C) c.-20-1G>C (n.-20-1G>C) c.26-1G>C (n.26-1G>C) | |
| 4 | g.101829807G= | CA1481094990 | BANK1 | c.71-1G= (n.71-1G=) c.71-25228G= (n.71-25228G=) c.-20-1G= (n.-20-1G=) c.26-1G= (n.26-1G=) | |
| 4 | g.101829807G>T | CA357951733 | BANK1 | c.71-1G>T (n.71-1G>T) c.71-25228G>T (n.71-25228G>T) c.-20-1G>T (n.-20-1G>T) c.26-1G>T (n.26-1G>T) | gnomAD v4 |
| 4 | g.101829808G>A | CA103060854 | BANK1 | c.71G>A (p.Gly24Glu) c.71-25227G>A (n.71-25227G>A) c.-20G>A (n.-20G>A) c.26G>A (p.Gly9Glu) | dbSNP |
| 4 | g.101829808G>C | CA357951735 | BANK1 | c.71G>C (p.Gly24Ala) c.71-25227G>C (n.71-25227G>C) c.-20G>C (n.-20G>C) c.26G>C (p.Gly9Ala) | |
| 4 | g.101829808G= | CA1481094991 | BANK1 | c.71G= (p.Gly24=) c.71-25227G= (n.71-25227G=) c.-20G= (n.-20G=) c.26G= (p.Gly9=) | |
| 4 | g.101829808G>T | CA357951734 | BANK1 | c.71G>T (p.Gly24Val) c.71-25227G>T (n.71-25227G>T) c.-20G>T (n.-20G>T) c.26G>T (p.Gly9Val) | gnomAD v4 |
| 4 | g.101829808_101829809insTTTTT | CA917265057 | BANK1 | c.71_72insTTTTT (p.Asn25PhefsTer2) c.71-25227_71-25226insTTTTT (n.71-25227_71-25226insTTTTT) c.-20_-19insTTTTT (n.-20_-19insTTTTT) c.26_27insTTTTT (p.Asn10PhefsTer2) | dbSNP |
| 4 | g.101829809A>C | CA440820448 | BANK1 | c.72A>C (p.Gly24=) c.71-25226A>C (n.71-25226A>C) c.-19A>C (n.-19A>C) c.27A>C (p.Gly9=) | |
| 4 | g.101829809A>G | CA440820449 | BANK1 | c.72A>G (p.Gly24=) c.71-25226A>G (n.71-25226A>G) c.-19A>G (n.-19A>G) c.27A>G (p.Gly9=) | |
| 4 | g.101829809A>T | CA440820450 | BANK1 | c.72A>T (p.Gly24=) c.71-25226A>T (n.71-25226A>T) c.-19A>T (n.-19A>T) c.27A>T (p.Gly9=) | |
| 4 | g.101829810A= | CA1481094992 | BANK1 | c.73A= (p.Asn25=) c.71-25225A= (n.71-25225A=) c.-18A= (n.-18A=) c.28A= (p.Asn10=) | |
| 4 | g.101829810A>C | CA357951736 | BANK1 | c.73A>C (p.Asn25His) c.71-25225A>C (n.71-25225A>C) c.-18A>C (n.-18A>C) c.28A>C (p.Asn10His) | |
| 4 | g.101829810A>G | CA357951738 | BANK1 | c.73A>G (p.Asn25Asp) c.71-25225A>G (n.71-25225A>G) c.-18A>G (n.-18A>G) c.28A>G (p.Asn10Asp) | dbSNP gnomAD v4 |
| 4 | g.101829810A>T | CA357951737 | BANK1 | c.73A>T (p.Asn25Tyr) c.71-25225A>T (n.71-25225A>T) c.-18A>T (n.-18A>T) c.28A>T (p.Asn10Tyr) | gnomAD v4 |
| 4 | g.101829811A>C | CA357951739 | BANK1 | c.74A>C (p.Asn25Thr) c.71-25224A>C (n.71-25224A>C) c.-17A>C (n.-17A>C) c.29A>C (p.Asn10Thr) | |
| 4 | g.101829811A>G | CA357951741 | BANK1 | c.74A>G (p.Asn25Ser) c.71-25224A>G (n.71-25224A>G) c.-17A>G (n.-17A>G) c.29A>G (p.Asn10Ser) | |
| 4 | g.101829811A>T | CA357951740 | BANK1 | c.74A>T (p.Asn25Ile) c.71-25224A>T (n.71-25224A>T) c.-17A>T (n.-17A>T) c.29A>T (p.Asn10Ile) | |
| 4 | g.101829812T>A | CA357951742 | BANK1 | c.75T>A (p.Asn25Lys) c.71-25223T>A (n.71-25223T>A) c.-16T>A (n.-16T>A) c.30T>A (p.Asn10Lys) | |
| 4 | g.101829812T>C | CA440820452 | BANK1 | c.75T>C (p.Asn25=) c.71-25223T>C (n.71-25223T>C) c.-16T>C (n.-16T>C) c.30T>C (p.Asn10=) | |
| 4 | g.101829812T>G | CA357951743 | BANK1 | c.75T>G (p.Asn25Lys) c.71-25223T>G (n.71-25223T>G) c.-16T>G (n.-16T>G) c.30T>G (p.Asn10Lys) | COSMIC |
| 4 | g.101829813A= | CA1481094993 | BANK1 | c.76A= (p.Thr26=) c.71-25222A= (n.71-25222A=) c.-15A= (n.-15A=) c.31A= (p.Thr11=) | |
| 4 | g.101829813A>C | CA357951744 | BANK1 | c.76A>C (p.Thr26Pro) c.71-25222A>C (n.71-25222A>C) c.-15A>C (n.-15A>C) c.31A>C (p.Thr11Pro) | |
| 4 | g.101829813A>G | CA357951745 | BANK1 | c.76A>G (p.Thr26Ala) c.71-25222A>G (n.71-25222A>G) c.-15A>G (n.-15A>G) c.31A>G (p.Thr11Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.101829813A>T | CA357951746 | BANK1 | c.76A>T (p.Thr26Ser) c.71-25222A>T (n.71-25222A>T) c.-15A>T (n.-15A>T) c.31A>T (p.Thr11Ser) | |
| 4 | g.101829814C>A | CA357951747 | BANK1 | c.77C>A (p.Thr26Lys) c.71-25221C>A (n.71-25221C>A) c.-14C>A (n.-14C>A) c.32C>A (p.Thr11Lys) | gnomAD v4 |
| 4 | g.101829814C= | CA1481094994 | BANK1 | c.77C= (p.Thr26=) c.71-25221C= (n.71-25221C=) c.-14C= (n.-14C=) c.32C= (p.Thr11=) | |
| 4 | g.101829814C>G | CA357951748 | BANK1 | c.77C>G (p.Thr26Arg) c.71-25221C>G (n.71-25221C>G) c.-14C>G (n.-14C>G) c.32C>G (p.Thr11Arg) | |
| 4 | g.101829814C>T | CA357951749 | BANK1 | c.77C>T (p.Thr26Ile) c.71-25221C>T (n.71-25221C>T) c.-14C>T (n.-14C>T) c.32C>T (p.Thr11Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.101829815A>C | CA440820460 | BANK1 | c.78A>C (p.Thr26=) c.71-25220A>C (n.71-25220A>C) c.-13A>C (n.-13A>C) c.33A>C (p.Thr11=) | |
| 4 | g.101829815A>G | CA440820459 | BANK1 | c.78A>G (p.Thr26=) c.71-25220A>G (n.71-25220A>G) c.-13A>G (n.-13A>G) c.33A>G (p.Thr11=) | COSMIC |
| 4 | g.101829815A>T | CA440820458 | BANK1 | c.78A>T (p.Thr26=) c.71-25220A>T (n.71-25220A>T) c.-13A>T (n.-13A>T) c.33A>T (p.Thr11=) | |
| 4 | g.101829816A= | CA1481094995 | BANK1 | c.79A= (p.Lys27=) c.71-25219A= (n.71-25219A=) c.-12A= (n.-12A=) c.34A= (p.Lys12=) | |
| 4 | g.101829816A>C | CA357951750 | BANK1 | c.79A>C (p.Lys27Gln) c.71-25219A>C (n.71-25219A>C) c.-12A>C (n.-12A>C) c.34A>C (p.Lys12Gln) | |
| 4 | g.101829816A>G | CA3024727 | BANK1 | c.79A>G (p.Lys27Glu) c.71-25219A>G (n.71-25219A>G) c.-12A>G (n.-12A>G) c.34A>G (p.Lys12Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.101829816A>T | CA357951751 | BANK1 | c.79A>T (p.Lys27Ter) c.71-25219A>T (n.71-25219A>T) c.-12A>T (n.-12A>T) c.34A>T (p.Lys12Ter) | |
| 4 | g.101829817A>C | CA357951754 | BANK1 | c.80A>C (p.Lys27Thr) c.71-25218A>C (n.71-25218A>C) c.-11A>C (n.-11A>C) c.35A>C (p.Lys12Thr) | |
| 4 | g.101829817A>G | CA357951752 | BANK1 | c.80A>G (p.Lys27Arg) c.71-25218A>G (n.71-25218A>G) c.-11A>G (n.-11A>G) c.35A>G (p.Lys12Arg) | |
| 4 | g.101829817A>T | CA357951753 | BANK1 | c.80A>T (p.Lys27Ile) c.71-25218A>T (n.71-25218A>T) c.-11A>T (n.-11A>T) c.35A>T (p.Lys12Ile) | |
| 4 | g.101829818A>C | CA357951755 | BANK1 | c.81A>C (p.Lys27Asn) c.71-25217A>C (n.71-25217A>C) c.-10A>C (n.-10A>C) c.36A>C (p.Lys12Asn) | |
| 4 | g.101829818A>G | CA440820466 | BANK1 | c.81A>G (p.Lys27=) c.71-25217A>G (n.71-25217A>G) c.-10A>G (n.-10A>G) c.36A>G (p.Lys12=) | gnomAD v4 |
| 4 | g.101829818A>T | CA357951756 | BANK1 | c.81A>T (p.Lys27Asn) c.71-25217A>T (n.71-25217A>T) c.-10A>T (n.-10A>T) c.36A>T (p.Lys12Asn) | |
| 4 | g.101829819G>A | CA357951757 | BANK1 | c.82G>A (p.Asp28Asn) c.71-25216G>A (n.71-25216G>A) c.-9G>A (n.-9G>A) c.37G>A (p.Asp13Asn) |