Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
4 | g.101829819G>C | CA357951758 | BANK1 | c.82G>C (p.Asp28His) c.71-25216G>C (n.71-25216G>C) c.-9G>C (n.-9G>C) c.37G>C (p.Asp13His) | |
4 | g.101829819G= | CA1481094996 | BANK1 | c.82G= (p.Asp28=) c.71-25216G= (n.71-25216G=) c.-9G= (n.-9G=) c.37G= (p.Asp13=) | |
4 | g.101829819G>T | CA3024728 | BANK1 | c.82G>T (p.Asp28Tyr) c.71-25216G>T (n.71-25216G>T) c.-9G>T (n.-9G>T) c.37G>T (p.Asp13Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.101829820A= | CA1481094997 | BANK1 | c.83A= (p.Asp28=) c.71-25215A= (n.71-25215A=) c.-8A= (n.-8A=) c.38A= (p.Asp13=) | |
4 | g.101829820A>C | CA3024729 | BANK1 | c.83A>C (p.Asp28Ala) c.71-25215A>C (n.71-25215A>C) c.-8A>C (n.-8A>C) c.38A>C (p.Asp13Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101829820A>G | CA357951759 | BANK1 | c.83A>G (p.Asp28Gly) c.71-25215A>G (n.71-25215A>G) c.-8A>G (n.-8A>G) c.38A>G (p.Asp13Gly) | gnomAD v4 |
4 | g.101829820A>T | CA3024730 | BANK1 | c.83A>T (p.Asp28Val) c.71-25215A>T (n.71-25215A>T) c.-8A>T (n.-8A>T) c.38A>T (p.Asp13Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101829821T>A | CA357951760 | BANK1 | c.84T>A (p.Asp28Glu) c.71-25214T>A (n.71-25214T>A) c.-7T>A (n.-7T>A) c.39T>A (p.Asp13Glu) | |
4 | g.101829821T>C | CA440820472 | BANK1 | c.84T>C (p.Asp28=) c.71-25214T>C (n.71-25214T>C) c.-7T>C (n.-7T>C) c.39T>C (p.Asp13=) | |
4 | g.101829821T>G | CA357951761 | BANK1 | c.84T>G (p.Asp28Glu) c.71-25214T>G (n.71-25214T>G) c.-7T>G (n.-7T>G) c.39T>G (p.Asp13Glu) | |
4 | g.101829822A= | CA1481094998 | BANK1 | c.85A= (p.Ile29=) c.71-25213A= (n.71-25213A=) c.-6A= (n.-6A=) c.40A= (p.Ile14=) | |
4 | g.101829822A>C | CA357951763 | BANK1 | c.85A>C (p.Ile29Leu) c.71-25213A>C (n.71-25213A>C) c.-6A>C (n.-6A>C) c.40A>C (p.Ile14Leu) | gnomAD v4 |
4 | g.101829822A>G | CA357951764 | BANK1 | c.85A>G (p.Ile29Val) c.71-25213A>G (n.71-25213A>G) c.-6A>G (n.-6A>G) c.40A>G (p.Ile14Val) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.101829822A>T | CA357951762 | BANK1 | c.85A>T (p.Ile29Leu) c.71-25213A>T (n.71-25213A>T) c.-6A>T (n.-6A>T) c.40A>T (p.Ile14Leu) | |
4 | g.101829827_101829829del | CA2578154521 | BANK1 | c.90_92del (p.Ile30del) c.71-25208_71-25206del (n.71-25208_71-25206del) c.-1_2del (n.-1_2del) c.45_47del (p.Ile15del) | gnomAD v4 |
4 | g.101829824_101829829del | CA2671540492 | BANK1 | c.87_92del (p.Ile29_Ile30del) c.71-25211_71-25206del (n.71-25211_71-25206del) c.-4_2del (n.-4_2del) c.42_47del (p.Ile14_Ile15del) | gnomAD v4 |
4 | g.101829823T>A | CA357951765 | BANK1 | c.86T>A (p.Ile29Lys) c.71-25212T>A (n.71-25212T>A) c.-5T>A (n.-5T>A) c.41T>A (p.Ile14Lys) | |
4 | g.101829823T>C | CA357951766 | BANK1 | c.86T>C (p.Ile29Thr) c.71-25212T>C (n.71-25212T>C) c.-5T>C (n.-5T>C) c.41T>C (p.Ile14Thr) | |
4 | g.101829823T>G | CA357951767 | BANK1 | c.86T>G (p.Ile29Arg) c.71-25212T>G (n.71-25212T>G) c.-5T>G (n.-5T>G) c.41T>G (p.Ile14Arg) | |
4 | g.101829824A>C | CA440820477 | BANK1 | c.87A>C (p.Ile29=) c.71-25211A>C (n.71-25211A>C) c.-4A>C (n.-4A>C) c.42A>C (p.Ile14=) | |
4 | g.101829824A>G | CA357951768 | BANK1 | c.87A>G (p.Ile29Met) c.71-25211A>G (n.71-25211A>G) c.-4A>G (n.-4A>G) c.42A>G (p.Ile14Met) | |
4 | g.101829824A>T | CA440820478 | BANK1 | c.87A>T (p.Ile29=) c.71-25211A>T (n.71-25211A>T) c.-4A>T (n.-4A>T) c.42A>T (p.Ile14=) | |
4 | g.101829825A= | CA1481094999 | BANK1 | c.88A= (p.Ile30=) c.71-25210A= (n.71-25210A=) c.-3A= (n.-3A=) c.43A= (p.Ile15=) | |
4 | g.101829825A>C | CA357951769 | BANK1 | c.88A>C (p.Ile30Leu) c.71-25210A>C (n.71-25210A>C) c.-3A>C (n.-3A>C) c.43A>C (p.Ile15Leu) | |
4 | g.101829825A>G | CA357951770 | BANK1 | c.88A>G (p.Ile30Val) c.71-25210A>G (n.71-25210A>G) c.-3A>G (n.-3A>G) c.43A>G (p.Ile15Val) | dbSNP gnomAD v4 |
4 | g.101829825A>T | CA357951771 | BANK1 | c.88A>T (p.Ile30Leu) c.71-25210A>T (n.71-25210A>T) c.-3A>T (n.-3A>T) c.43A>T (p.Ile15Leu) | |
4 | g.101829826T>A | CA357951772 | BANK1 | c.89T>A (p.Ile30Lys) c.71-25209T>A (n.71-25209T>A) c.-2T>A (n.-2T>A) c.44T>A (p.Ile15Lys) | |
4 | g.101829826T>C | CA357951773 | BANK1 | c.89T>C (p.Ile30Thr) c.71-25209T>C (n.71-25209T>C) c.-2T>C (n.-2T>C) c.44T>C (p.Ile15Thr) | |
4 | g.101829826T>G | CA357951774 | BANK1 | c.89T>G (p.Ile30Arg) c.71-25209T>G (n.71-25209T>G) c.-2T>G (n.-2T>G) c.44T>G (p.Ile15Arg) | |
4 | g.101829827A= | CA1481095000 | BANK1 | c.90A= (p.Ile30=) c.71-25208A= (n.71-25208A=) c.-1A= (n.-1A=) c.45A= (p.Ile15=) | |
4 | g.101829827A>C | CA440820481 | BANK1 | c.90A>C (p.Ile30=) c.71-25208A>C (n.71-25208A>C) c.-1A>C (n.-1A>C) c.45A>C (p.Ile15=) | |
4 | g.101829827A>G | CA357951775 | BANK1 | c.90A>G (p.Ile30Met) c.71-25208A>G (n.71-25208A>G) c.-1A>G (n.-1A>G) c.45A>G (p.Ile15Met) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.101829827A>T | CA440820483 | BANK1 | c.90A>T (p.Ile30=) c.71-25208A>T (n.71-25208A>T) c.-1A>T (n.-1A>T) c.45A>T (p.Ile15=) | |
4 | g.101829828A>C | CA357951777 | BANK1 | c.91A>C (p.Met31Leu) c.71-25207A>C (n.71-25207A>C) c.1A>C (p.Met1Leu) c.46A>C (p.Met16Leu) | |
4 | g.101829828A>G | CA357951778 | BANK1 | c.91A>G (p.Met31Val) c.71-25207A>G (n.71-25207A>G) c.1A>G (p.Met1Val) c.46A>G (p.Met16Val) | |
4 | g.101829828A>T | CA357951776 | BANK1 | c.91A>T (p.Met31Leu) c.71-25207A>T (n.71-25207A>T) c.1A>T (p.Met1Leu) c.46A>T (p.Met16Leu) | COSMIC |