Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
4 | g.101829829del | CA2578154522 | BANK1 | c.92del (p.Met31ArgfsTer14) c.71-25206del (n.71-25206del) c.2del (p.Met1ArgfsTer14) c.47del (p.Met16ArgfsTer14) | |
4 | g.101829829T>A | CA357951779 | BANK1 | c.92T>A (p.Met31Lys) c.71-25206T>A (n.71-25206T>A) c.2T>A (p.Met1Lys) c.47T>A (p.Met16Lys) | |
4 | g.101829829T>C | CA3024731 | BANK1 | c.92T>C (p.Met31Thr) c.71-25206T>C (n.71-25206T>C) c.2T>C (p.Met1Thr) c.47T>C (p.Met16Thr) | dbSNP ExAC gnomAD v2 |
4 | g.101829829T>G | CA357951780 | BANK1 | c.92T>G (p.Met31Arg) c.71-25206T>G (n.71-25206T>G) c.2T>G (p.Met1Arg) c.47T>G (p.Met16Arg) | |
4 | g.101829829T= | CA1481095001 | BANK1 | c.92T= (p.Met31=) c.71-25206T= (n.71-25206T=) c.2T= (p.Met1=) c.47T= (p.Met16=) | |
4 | g.101829830G>A | CA357951781 | BANK1 | c.93G>A (p.Met31Ile) c.71-25205G>A (n.71-25205G>A) c.3G>A (p.Met1Ile) c.48G>A (p.Met16Ile) | |
4 | g.101829830G>C | CA357951782 | BANK1 | c.93G>C (p.Met31Ile) c.71-25205G>C (n.71-25205G>C) c.3G>C (p.Met1Ile) c.48G>C (p.Met16Ile) | dbSNP |
4 | g.101829830G>T | CA357951783 | BANK1 | c.93G>T (p.Met31Ile) c.71-25205G>T (n.71-25205G>T) c.3G>T (p.Met1Ile) c.48G>T (p.Met16Ile) | |
4 | g.101829831A= | CA1481095002 | BANK1 | c.94A= (p.Ile32=) c.71-25204A= (n.71-25204A=) c.4A= (p.Ile2=) c.49A= (p.Ile17=) | |
4 | g.101829831A>C | CA357951784 | BANK1 | c.94A>C (p.Ile32Leu) c.71-25204A>C (n.71-25204A>C) c.4A>C (p.Ile2Leu) c.49A>C (p.Ile17Leu) | |
4 | g.101829831A>G | CA357951785 | BANK1 | c.94A>G (p.Ile32Val) c.71-25204A>G (n.71-25204A>G) c.4A>G (p.Ile2Val) c.49A>G (p.Ile17Val) | |
4 | g.101829831A>T | CA3024732 | BANK1 | c.94A>T (p.Ile32Leu) c.71-25204A>T (n.71-25204A>T) c.4A>T (p.Ile2Leu) c.49A>T (p.Ile17Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101829832T>A | CA357951786 | BANK1 | c.95T>A (p.Ile32Lys) c.71-25203T>A (n.71-25203T>A) c.5T>A (p.Ile2Lys) c.50T>A (p.Ile17Lys) | |
4 | g.101829832T>C | CA357951787 | BANK1 | c.95T>C (p.Ile32Thr) c.71-25203T>C (n.71-25203T>C) c.5T>C (p.Ile2Thr) c.50T>C (p.Ile17Thr) | |
4 | g.101829832T>G | CA357951788 | BANK1 | c.95T>G (p.Ile32Arg) c.71-25203T>G (n.71-25203T>G) c.5T>G (p.Ile2Arg) c.50T>G (p.Ile17Arg) | |
4 | g.101829833A>C | CA440820490 | BANK1 | c.96A>C (p.Ile32=) c.71-25202A>C (n.71-25202A>C) c.6A>C (p.Ile2=) c.51A>C (p.Ile17=) | |
4 | g.101829833A>G | CA357951789 | BANK1 | c.96A>G (p.Ile32Met) c.71-25202A>G (n.71-25202A>G) c.6A>G (p.Ile2Met) c.51A>G (p.Ile17Met) | |
4 | g.101829833A>T | CA440820491 | BANK1 | c.96A>T (p.Ile32=) c.71-25202A>T (n.71-25202A>T) c.6A>T (p.Ile2=) c.51A>T (p.Ile17=) | |
4 | g.101829834T>A | CA357951792 | BANK1 | c.97T>A (p.Tyr33Asn) c.71-25201T>A (n.71-25201T>A) c.7T>A (p.Tyr3Asn) c.52T>A (p.Tyr18Asn) | |
4 | g.101829834T>C | CA357951791 | BANK1 | c.97T>C (p.Tyr33His) c.71-25201T>C (n.71-25201T>C) c.7T>C (p.Tyr3His) c.52T>C (p.Tyr18His) | dbSNP gnomAD v4 |
4 | g.101829834T>G | CA357951790 | BANK1 | c.97T>G (p.Tyr33Asp) c.71-25201T>G (n.71-25201T>G) c.7T>G (p.Tyr3Asp) c.52T>G (p.Tyr18Asp) | |
4 | g.101829834T= | CA1481095003 | BANK1 | c.97T= (p.Tyr33=) c.71-25201T= (n.71-25201T=) c.7T= (p.Tyr3=) c.52T= (p.Tyr18=) | |
4 | g.101829835A= | CA1481095004 | BANK1 | c.98A= (p.Tyr33=) c.71-25200A= (n.71-25200A=) c.8A= (p.Tyr3=) c.53A= (p.Tyr18=) | |
4 | g.101829835A>C | CA357951793 | BANK1 | c.98A>C (p.Tyr33Ser) c.71-25200A>C (n.71-25200A>C) c.8A>C (p.Tyr3Ser) c.53A>C (p.Tyr18Ser) | |
4 | g.101829835A>G | CA3024734 | BANK1 | c.98A>G (p.Tyr33Cys) c.71-25200A>G (n.71-25200A>G) c.8A>G (p.Tyr3Cys) c.53A>G (p.Tyr18Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.101829835A>T | CA3024733 | BANK1 | c.98A>T (p.Tyr33Phe) c.71-25200A>T (n.71-25200A>T) c.8A>T (p.Tyr3Phe) c.53A>T (p.Tyr18Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.101829836T>A | CA357951794 | BANK1 | c.99T>A (p.Tyr33Ter) c.71-25199T>A (n.71-25199T>A) c.9T>A (p.Tyr3Ter) c.54T>A (p.Tyr18Ter) | |
4 | g.101829836T>C | CA440820493 | BANK1 | c.99T>C (p.Tyr33=) c.71-25199T>C (n.71-25199T>C) c.9T>C (p.Tyr3=) c.54T>C (p.Tyr18=) | |
4 | g.101829836T>G | CA357951795 | BANK1 | c.99T>G (p.Tyr33Ter) c.71-25199T>G (n.71-25199T>G) c.9T>G (p.Tyr3Ter) c.54T>G (p.Tyr18Ter) | |
4 | g.101829837G>A | CA357951796 | BANK1 | c.100G>A (p.Glu34Lys) c.71-25198G>A (n.71-25198G>A) c.10G>A (p.Glu4Lys) c.55G>A (p.Glu19Lys) | |
4 | g.101829837G>C | CA357951797 | BANK1 | c.100G>C (p.Glu34Gln) c.71-25198G>C (n.71-25198G>C) c.10G>C (p.Glu4Gln) c.55G>C (p.Glu19Gln) | |
4 | g.101829837G>T | CA357951798 | BANK1 | c.100G>T (p.Glu34Ter) c.71-25198G>T (n.71-25198G>T) c.10G>T (p.Glu4Ter) c.55G>T (p.Glu19Ter) | |
4 | g.101829838A>C | CA357951799 | BANK1 | c.101A>C (p.Glu34Ala) c.71-25197A>C (n.71-25197A>C) c.11A>C (p.Glu4Ala) c.56A>C (p.Glu19Ala) | |
4 | g.101829838A>G | CA357951800 | BANK1 | c.101A>G (p.Glu34Gly) c.71-25197A>G (n.71-25197A>G) c.11A>G (p.Glu4Gly) c.56A>G (p.Glu19Gly) | gnomAD v4 |
4 | g.101829838A>T | CA357951801 | BANK1 | c.101A>T (p.Glu34Val) c.71-25197A>T (n.71-25197A>T) c.11A>T (p.Glu4Val) c.56A>T (p.Glu19Val) | |
4 | g.101829839A>C | CA357951802 | BANK1 | c.102A>C (p.Glu34Asp) c.71-25196A>C (n.71-25196A>C) c.12A>C (p.Glu4Asp) c.57A>C (p.Glu19Asp) | |
4 | g.101829839A>G | CA440820498 | BANK1 | c.102A>G (p.Glu34=) c.71-25196A>G (n.71-25196A>G) c.12A>G (p.Glu4=) c.57A>G (p.Glu19=) | |
4 | g.101829839A>T | CA357951803 | BANK1 | c.102A>T (p.Glu34Asp) c.71-25196A>T (n.71-25196A>T) c.12A>T (p.Glu4Asp) c.57A>T (p.Glu19Asp) | |
4 | g.101829840G>A | CA357951804 | BANK1 | c.103G>A (p.Glu35Lys) c.71-25195G>A (n.71-25195G>A) c.13G>A (p.Glu5Lys) c.58G>A (p.Glu20Lys) | |
4 | g.101829840G>C | CA357951805 | BANK1 | c.103G>C (p.Glu35Gln) c.71-25195G>C (n.71-25195G>C) c.13G>C (p.Glu5Gln) c.58G>C (p.Glu20Gln) | |
4 | g.101829840G>T | CA357951806 | BANK1 | c.103G>T (p.Glu35Ter) c.71-25195G>T (n.71-25195G>T) c.13G>T (p.Glu5Ter) c.58G>T (p.Glu20Ter) | |
4 | g.101829841A>C | CA357951807 | BANK1 | c.104A>C (p.Glu35Ala) c.71-25194A>C (n.71-25194A>C) c.14A>C (p.Glu5Ala) c.59A>C (p.Glu20Ala) | |
4 | g.101829841A>G | CA357951809 | BANK1 | c.104A>G (p.Glu35Gly) c.71-25194A>G (n.71-25194A>G) c.14A>G (p.Glu5Gly) c.59A>G (p.Glu20Gly) | |
4 | g.101829841A>T | CA357951808 | BANK1 | c.104A>T (p.Glu35Val) c.71-25194A>T (n.71-25194A>T) c.14A>T (p.Glu5Val) c.59A>T (p.Glu20Val) | |
4 | g.101829842A>C | CA357951810 | BANK1 | c.105A>C (p.Glu35Asp) c.71-25193A>C (n.71-25193A>C) c.15A>C (p.Glu5Asp) c.60A>C (p.Glu20Asp) | |
4 | g.101829842A>G | CA440820502 | BANK1 | c.105A>G (p.Glu35=) c.71-25193A>G (n.71-25193A>G) c.15A>G (p.Glu5=) c.60A>G (p.Glu20=) | |
4 | g.101829842A>T | CA357951811 | BANK1 | c.105A>T (p.Glu35Asp) c.71-25193A>T (n.71-25193A>T) c.15A>T (p.Glu5Asp) c.60A>T (p.Glu20Asp) | |
4 | g.101829843G>A | CA357951812 | BANK1 | c.106G>A (p.Asp36Asn) c.71-25192G>A (n.71-25192G>A) c.16G>A (p.Asp6Asn) c.61G>A (p.Asp21Asn) | |
4 | g.101829843G>C | CA357951813 | BANK1 | c.106G>C (p.Asp36His) c.71-25192G>C (n.71-25192G>C) c.16G>C (p.Asp6His) c.61G>C (p.Asp21His) | |
4 | g.101829843G>T | CA357951814 | BANK1 | c.106G>T (p.Asp36Tyr) c.71-25192G>T (n.71-25192G>T) c.16G>T (p.Asp6Tyr) c.61G>T (p.Asp21Tyr) | |
4 | g.101829844A>C | CA357951815 | BANK1 | c.107A>C (p.Asp36Ala) c.71-25191A>C (n.71-25191A>C) c.17A>C (p.Asp6Ala) c.62A>C (p.Asp21Ala) | |
4 | g.101829844A>G | CA357951816 | BANK1 | c.107A>G (p.Asp36Gly) c.71-25191A>G (n.71-25191A>G) c.17A>G (p.Asp6Gly) c.62A>G (p.Asp21Gly) | |
4 | g.101829844A>T | CA357951817 | BANK1 | c.107A>T (p.Asp36Val) c.71-25191A>T (n.71-25191A>T) c.17A>T (p.Asp6Val) c.62A>T (p.Asp21Val) | |
4 | g.101829845T>A | CA357951818 | BANK1 | c.108T>A (p.Asp36Glu) c.71-25190T>A (n.71-25190T>A) c.18T>A (p.Asp6Glu) c.63T>A (p.Asp21Glu) | |
4 | g.101829845T>C | CA440820506 | BANK1 | c.108T>C (p.Asp36=) c.71-25190T>C (n.71-25190T>C) c.18T>C (p.Asp6=) c.63T>C (p.Asp21=) | |
4 | g.101829845T>G | CA357951819 | BANK1 | c.108T>G (p.Asp36Glu) c.71-25190T>G (n.71-25190T>G) c.18T>G (p.Asp6Glu) c.63T>G (p.Asp21Glu) | |
4 | g.101829846G>A | CA357951821 | BANK1 | c.109G>A (p.Ala37Thr) c.71-25189G>A (n.71-25189G>A) c.19G>A (p.Ala7Thr) c.64G>A (p.Ala22Thr) | |
4 | g.101829846G>C | CA357951820 | BANK1 | c.109G>C (p.Ala37Pro) c.71-25189G>C (n.71-25189G>C) c.19G>C (p.Ala7Pro) c.64G>C (p.Ala22Pro) | |
4 | g.101829846G= | CA1481095005 | BANK1 | c.109G= (p.Ala37=) c.71-25189G= (n.71-25189G=) c.19G= (p.Ala7=) c.64G= (p.Ala22=) | |
4 | g.101829846G>T | CA3024735 | BANK1 | c.109G>T (p.Ala37Ser) c.71-25189G>T (n.71-25189G>T) c.19G>T (p.Ala7Ser) c.64G>T (p.Ala22Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101829847C>A | CA357951822 | BANK1 | c.110C>A (p.Ala37Asp) c.71-25188C>A (n.71-25188C>A) c.20C>A (p.Ala7Asp) c.65C>A (p.Ala22Asp) | gnomAD v4 |
4 | g.101829847C= | CA1481095006 | BANK1 | c.110C= (p.Ala37=) c.71-25188C= (n.71-25188C=) c.20C= (p.Ala7=) c.65C= (p.Ala22=) | |
4 | g.101829847C>G | CA357951823 | BANK1 | c.110C>G (p.Ala37Gly) c.71-25188C>G (n.71-25188C>G) c.20C>G (p.Ala7Gly) c.65C>G (p.Ala22Gly) | dbSNP |
4 | g.101829847C>T | CA357951824 | BANK1 | c.110C>T (p.Ala37Val) c.71-25188C>T (n.71-25188C>T) c.20C>T (p.Ala7Val) c.65C>T (p.Ala22Val) | |
4 | g.101829848T>A | CA440820511 | BANK1 | c.111T>A (p.Ala37=) c.71-25187T>A (n.71-25187T>A) c.21T>A (p.Ala7=) c.66T>A (p.Ala22=) | |
4 | g.101829848T>C | CA440820513 | BANK1 | c.111T>C (p.Ala37=) c.71-25187T>C (n.71-25187T>C) c.21T>C (p.Ala7=) c.66T>C (p.Ala22=) | dbSNP |
4 | g.101829848T>G | CA440820514 | BANK1 | c.111T>G (p.Ala37=) c.71-25187T>G (n.71-25187T>G) c.21T>G (p.Ala7=) c.66T>G (p.Ala22=) | |
4 | g.101829848T= | CA1481095007 | BANK1 | c.111T= (p.Ala37=) c.71-25187T= (n.71-25187T=) c.21T= (p.Ala7=) c.66T= (p.Ala22=) | |
4 | g.101829849G>A | CA357951825 | BANK1 | c.112G>A (p.Glu38Lys) c.71-25186G>A (n.71-25186G>A) c.22G>A (p.Glu8Lys) c.67G>A (p.Glu23Lys) | |
4 | g.101829849G>C | CA357951826 | BANK1 | c.112G>C (p.Glu38Gln) c.71-25186G>C (n.71-25186G>C) c.22G>C (p.Glu8Gln) c.67G>C (p.Glu23Gln) | |
4 | g.101829849G>T | CA357951827 | BANK1 | c.112G>T (p.Glu38Ter) c.71-25186G>T (n.71-25186G>T) c.22G>T (p.Glu8Ter) c.67G>T (p.Glu23Ter) | |
4 | g.101829849_101829859del | CA2578154523 | BANK1 | c.112_122del (p.Glu38SerfsTer?) c.71-25186_71-25176del (n.71-25186_71-25176del) c.22_32del (p.Glu8SerfsTer?) c.67_77del (p.Glu23SerfsTer?) | |
4 | g.101829850A>C | CA357951830 | BANK1 | c.113A>C (p.Glu38Ala) c.71-25185A>C (n.71-25185A>C) c.23A>C (p.Glu8Ala) c.68A>C (p.Glu23Ala) | |
4 | g.101829850A>G | CA357951828 | BANK1 | c.113A>G (p.Glu38Gly) c.71-25185A>G (n.71-25185A>G) c.23A>G (p.Glu8Gly) c.68A>G (p.Glu23Gly) | |
4 | g.101829850A>T | CA357951829 | BANK1 | c.113A>T (p.Glu38Val) c.71-25185A>T (n.71-25185A>T) c.23A>T (p.Glu8Val) c.68A>T (p.Glu23Val) | |
4 | g.101829851G>A | CA440820517 | BANK1 | c.114G>A (p.Glu38=) c.71-25184G>A (n.71-25184G>A) c.24G>A (p.Glu8=) c.69G>A (p.Glu23=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.101829851G>C | CA357951831 | BANK1 | c.114G>C (p.Glu38Asp) c.71-25184G>C (n.71-25184G>C) c.24G>C (p.Glu8Asp) c.69G>C (p.Glu23Asp) | |
4 | g.101829851G= | CA1481095008 | BANK1 | c.114G= (p.Glu38=) c.71-25184G= (n.71-25184G=) c.24G= (p.Glu8=) c.69G= (p.Glu23=) | |
4 | g.101829851G>T | CA357951832 | BANK1 | c.114G>T (p.Glu38Asp) c.71-25184G>T (n.71-25184G>T) c.24G>T (p.Glu8Asp) c.69G>T (p.Glu23Asp) | |
4 | g.101829852G>A | CA3024736 | BANK1 | c.115G>A (p.Glu39Lys) c.71-25183G>A (n.71-25183G>A) c.25G>A (p.Glu9Lys) c.70G>A (p.Glu24Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101829852G>C | CA357951833 | BANK1 | c.115G>C (p.Glu39Gln) c.71-25183G>C (n.71-25183G>C) c.25G>C (p.Glu9Gln) c.70G>C (p.Glu24Gln) | |
4 | g.101829852G= | CA1481095009 | BANK1 | c.115G= (p.Glu39=) c.71-25183G= (n.71-25183G=) c.25G= (p.Glu9=) c.70G= (p.Glu24=) | |
4 | g.101829852G>T | CA357951834 | BANK1 | c.115G>T (p.Glu39Ter) c.71-25183G>T (n.71-25183G>T) c.25G>T (p.Glu9Ter) c.70G>T (p.Glu24Ter) | |
4 | g.101829853A>C | CA357951835 | BANK1 | c.116A>C (p.Glu39Ala) c.71-25182A>C (n.71-25182A>C) c.26A>C (p.Glu9Ala) c.71A>C (p.Glu24Ala) | |
4 | g.101829853A>G | CA357951837 | BANK1 | c.116A>G (p.Glu39Gly) c.71-25182A>G (n.71-25182A>G) c.26A>G (p.Glu9Gly) c.71A>G (p.Glu24Gly) | |
4 | g.101829853A>T | CA357951836 | BANK1 | c.116A>T (p.Glu39Val) c.71-25182A>T (n.71-25182A>T) c.26A>T (p.Glu9Val) c.71A>T (p.Glu24Val) | |
4 | g.101829854del | CA2671540493 | BANK1 | c.117del (p.Glu39AspfsTer6) c.71-25181del (n.71-25181del) c.27del (p.Glu9AspfsTer6) c.72del (p.Glu24AspfsTer6) | gnomAD v4 |
4 | g.101829854A>C | CA357951838 | BANK1 | c.117A>C (p.Glu39Asp) c.71-25181A>C (n.71-25181A>C) c.27A>C (p.Glu9Asp) c.72A>C (p.Glu24Asp) | |
4 | g.101829854A>G | CA440820522 | BANK1 | c.117A>G (p.Glu39=) c.71-25181A>G (n.71-25181A>G) c.27A>G (p.Glu9=) c.72A>G (p.Glu24=) | gnomAD v4 |
4 | g.101829854A>T | CA357951839 | BANK1 | c.117A>T (p.Glu39Asp) c.71-25181A>T (n.71-25181A>T) c.27A>T (p.Glu9Asp) c.72A>T (p.Glu24Asp) | |
4 | g.101829855T>A | CA357951840 | BANK1 | c.118T>A (p.Trp40Arg) c.71-25180T>A (n.71-25180T>A) c.28T>A (p.Trp10Arg) c.73T>A (p.Trp25Arg) | |
4 | g.101829855T>C | CA357951841 | BANK1 | c.118T>C (p.Trp40Arg) c.71-25180T>C (n.71-25180T>C) c.28T>C (p.Trp10Arg) c.73T>C (p.Trp25Arg) | |
4 | g.101829855T>G | CA357951842 | BANK1 | c.118T>G (p.Trp40Gly) c.71-25180T>G (n.71-25180T>G) c.28T>G (p.Trp10Gly) c.73T>G (p.Trp25Gly) | |
4 | g.101829856G>A | CA357951843 | BANK1 | c.119G>A (p.Trp40Ter) c.71-25179G>A (n.71-25179G>A) c.29G>A (p.Trp10Ter) c.74G>A (p.Trp25Ter) | gnomAD v4 |
4 | g.101829856G>C | CA357951844 | BANK1 | c.119G>C (p.Trp40Ser) c.71-25179G>C (n.71-25179G>C) c.29G>C (p.Trp10Ser) c.74G>C (p.Trp25Ser) | |
4 | g.101829856G>T | CA357951845 | BANK1 | c.119G>T (p.Trp40Leu) c.71-25179G>T (n.71-25179G>T) c.29G>T (p.Trp10Leu) c.74G>T (p.Trp25Leu) | COSMIC |
4 | g.101829857G>A | CA357951846 | BANK1 | c.120G>A (p.Trp40Ter) c.71-25178G>A (n.71-25178G>A) c.30G>A (p.Trp10Ter) c.75G>A (p.Trp25Ter) | |
4 | g.101829857G>C | CA3024737 | BANK1 | c.120G>C (p.Trp40Cys) c.71-25178G>C (n.71-25178G>C) c.30G>C (p.Trp10Cys) c.75G>C (p.Trp25Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101829857G= | CA1481095010 | BANK1 | c.120G= (p.Trp40=) c.71-25178G= (n.71-25178G=) c.30G= (p.Trp10=) c.75G= (p.Trp25=) | |
4 | g.101829857G>T | CA357951847 | BANK1 | c.120G>T (p.Trp40Cys) c.71-25178G>T (n.71-25178G>T) c.30G>T (p.Trp10Cys) c.75G>T (p.Trp25Cys) | gnomAD v4 COSMIC |
4 | g.101829858G>A | CA357951849 | BANK1 | c.121G>A (p.Ala41Thr) c.71-25177G>A (n.71-25177G>A) c.31G>A (p.Ala11Thr) c.76G>A (p.Ala26Thr) | |
4 | g.101829858G>C | CA357951850 | BANK1 | c.121G>C (p.Ala41Pro) c.71-25177G>C (n.71-25177G>C) c.31G>C (p.Ala11Pro) c.76G>C (p.Ala26Pro) | |
4 | g.101829858G>T | CA357951848 | BANK1 | c.121G>T (p.Ala41Ser) c.71-25177G>T (n.71-25177G>T) c.31G>T (p.Ala11Ser) c.76G>T (p.Ala26Ser) | |
4 | g.101829859C>A | CA357951853 | BANK1 | c.122C>A (p.Ala41Asp) c.71-25176C>A (n.71-25176C>A) c.32C>A (p.Ala11Asp) c.77C>A (p.Ala26Asp) | gnomAD v4 |
4 | g.101829859C>G | CA357951851 | BANK1 | c.122C>G (p.Ala41Gly) c.71-25176C>G (n.71-25176C>G) c.32C>G (p.Ala11Gly) c.77C>G (p.Ala26Gly) | |
4 | g.101829859C>T | CA357951852 | BANK1 | c.122C>T (p.Ala41Val) c.71-25176C>T (n.71-25176C>T) c.32C>T (p.Ala11Val) c.77C>T (p.Ala26Val) | |
4 | g.101829860T>A | CA440820530 | BANK1 | c.123T>A (p.Ala41=) c.71-25175T>A (n.71-25175T>A) c.33T>A (p.Ala11=) c.78T>A (p.Ala26=) | dbSNP |
4 | g.101829860T>C | CA3024738 | BANK1 | c.123T>C (p.Ala41=) c.71-25175T>C (n.71-25175T>C) c.33T>C (p.Ala11=) c.78T>C (p.Ala26=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101829860T>G | CA440820531 | BANK1 | c.123T>G (p.Ala41=) c.71-25175T>G (n.71-25175T>G) c.33T>G (p.Ala11=) c.78T>G (p.Ala26=) | |
4 | g.101829860T= | CA1481095011 | BANK1 | c.123T= (p.Ala41=) c.71-25175T= (n.71-25175T=) c.33T= (p.Ala11=) c.78T= (p.Ala26=) | |
4 | g.101829861C>A | CA357951854 | BANK1 | c.124C>A (p.Leu42Met) c.71-25174C>A (n.71-25174C>A) c.34C>A (p.Leu12Met) c.79C>A (p.Leu27Met) | |
4 | g.101829861C>G | CA357951855 | BANK1 | c.124C>G (p.Leu42Val) c.71-25174C>G (n.71-25174C>G) c.34C>G (p.Leu12Val) c.79C>G (p.Leu27Val) | gnomAD v4 |
4 | g.101829861C>T | CA440820533 | BANK1 | c.124C>T (p.Leu42=) c.71-25174C>T (n.71-25174C>T) c.34C>T (p.Leu12=) c.79C>T (p.Leu27=) | |
4 | g.101829862T>A | CA357951856 | BANK1 | c.125T>A (p.Leu42Gln) c.71-25173T>A (n.71-25173T>A) c.35T>A (p.Leu12Gln) c.80T>A (p.Leu27Gln) | |
4 | g.101829862T>C | CA357951857 | BANK1 | c.125T>C (p.Leu42Pro) c.71-25173T>C (n.71-25173T>C) c.35T>C (p.Leu12Pro) c.80T>C (p.Leu27Pro) | |
4 | g.101829862T>G | CA357951858 | BANK1 | c.125T>G (p.Leu42Arg) c.71-25173T>G (n.71-25173T>G) c.35T>G (p.Leu12Arg) c.80T>G (p.Leu27Arg) | |
4 | g.101829863G>A | CA440820534 | BANK1 | c.126G>A (p.Leu42=) c.71-25172G>A (n.71-25172G>A) c.36G>A (p.Leu12=) c.81G>A (p.Leu27=) | gnomAD v4 |
4 | g.101829863G>C | CA440820536 | BANK1 | c.126G>C (p.Leu42=) c.71-25172G>C (n.71-25172G>C) c.36G>C (p.Leu12=) c.81G>C (p.Leu27=) | |
4 | g.101829863G>T | CA440820535 | BANK1 | c.126G>T (p.Leu42=) c.71-25172G>T (n.71-25172G>T) c.36G>T (p.Leu12=) c.81G>T (p.Leu27=) | |
4 | g.101829864T>A | CA357951859 | BANK1 | c.127T>A (p.Tyr43Asn) c.71-25171T>A (n.71-25171T>A) c.37T>A (p.Tyr13Asn) c.82T>A (p.Tyr28Asn) | |
4 | g.101829864T>C | CA357951860 | BANK1 | c.127T>C (p.Tyr43His) c.71-25171T>C (n.71-25171T>C) c.37T>C (p.Tyr13His) c.82T>C (p.Tyr28His) | dbSNP |
4 | g.101829864T>G | CA357951861 | BANK1 | c.127T>G (p.Tyr43Asp) c.71-25171T>G (n.71-25171T>G) c.37T>G (p.Tyr13Asp) c.82T>G (p.Tyr28Asp) | gnomAD v4 |
4 | g.101829864T= | CA1481095012 | BANK1 | c.127T= (p.Tyr43=) c.71-25171T= (n.71-25171T=) c.37T= (p.Tyr13=) c.82T= (p.Tyr28=) | |
4 | g.101829865A>C | CA357951862 | BANK1 | c.128A>C (p.Tyr43Ser) c.71-25170A>C (n.71-25170A>C) c.38A>C (p.Tyr13Ser) c.83A>C (p.Tyr28Ser) | |
4 | g.101829865A>G | CA357951863 | BANK1 | c.128A>G (p.Tyr43Cys) c.71-25170A>G (n.71-25170A>G) c.38A>G (p.Tyr13Cys) c.83A>G (p.Tyr28Cys) | gnomAD v4 |
4 | g.101829865A>T | CA357951864 | BANK1 | c.128A>T (p.Tyr43Phe) c.71-25170A>T (n.71-25170A>T) c.38A>T (p.Tyr13Phe) c.83A>T (p.Tyr28Phe) | |
4 | g.101829866C>A | CA357951866 | BANK1 | c.129C>A (p.Tyr43Ter) c.71-25169C>A (n.71-25169C>A) c.39C>A (p.Tyr13Ter) c.84C>A (p.Tyr28Ter) | |
4 | g.101829866C= | CA1481095013 | BANK1 | c.129C= (p.Tyr43=) c.71-25169C= (n.71-25169C=) c.39C= (p.Tyr13=) c.84C= (p.Tyr28=) | |
4 | g.101829866C>G | CA357951865 | BANK1 | c.129C>G (p.Tyr43Ter) c.71-25169C>G (n.71-25169C>G) c.39C>G (p.Tyr13Ter) c.84C>G (p.Tyr28Ter) | |
4 | g.101829866C>T | CA440820538 | BANK1 | c.129C>T (p.Tyr43=) c.71-25169C>T (n.71-25169C>T) c.39C>T (p.Tyr13=) c.84C>T (p.Tyr28=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.101829867T>A | CA357951867 | BANK1 | c.130T>A (p.Leu44Met) c.71-25168T>A (n.71-25168T>A) c.40T>A (p.Leu14Met) c.85T>A (p.Leu29Met) | |
4 | g.101829867T>C | CA440820541 | BANK1 | c.130T>C (p.Leu44=) c.71-25168T>C (n.71-25168T>C) c.40T>C (p.Leu14=) c.85T>C (p.Leu29=) | |
4 | g.101829867T>G | CA357951868 | BANK1 | c.130T>G (p.Leu44Val) c.71-25168T>G (n.71-25168T>G) c.40T>G (p.Leu14Val) c.85T>G (p.Leu29Val) | |
4 | g.101829868T>A | CA357951869 | BANK1 | c.131T>A (p.Leu44Ter) c.71-25167T>A (n.71-25167T>A) c.41T>A (p.Leu14Ter) c.86T>A (p.Leu29Ter) | |
4 | g.101829868T>C | CA357951870 | BANK1 | c.131T>C (p.Leu44Ser) c.71-25167T>C (n.71-25167T>C) c.41T>C (p.Leu14Ser) c.86T>C (p.Leu29Ser) | |
4 | g.101829868T>G | CA357951871 | BANK1 | c.131T>G (p.Leu44Trp) c.71-25167T>G (n.71-25167T>G) c.41T>G (p.Leu14Trp) c.86T>G (p.Leu29Trp) | |
4 | g.101829869G>A | CA440820543 | BANK1 | c.132G>A (p.Leu44=) c.71-25166G>A (n.71-25166G>A) c.42G>A (p.Leu14=) c.87G>A (p.Leu29=) | |
4 | g.101829869G>C | CA357951872 | BANK1 | c.132G>C (p.Leu44Phe) c.71-25166G>C (n.71-25166G>C) c.42G>C (p.Leu14Phe) c.87G>C (p.Leu29Phe) | |
4 | g.101829869G>T | CA357951873 | BANK1 | c.132G>T (p.Leu44Phe) c.71-25166G>T (n.71-25166G>T) c.42G>T (p.Leu14Phe) c.87G>T (p.Leu29Phe) | |
4 | g.101829870A>C | CA357951874 | BANK1 | c.133A>C (p.Thr45Pro) c.71-25165A>C (n.71-25165A>C) c.43A>C (p.Thr15Pro) c.88A>C (p.Thr30Pro) | |
4 | g.101829870A>G | CA357951876 | BANK1 | c.133A>G (p.Thr45Ala) c.71-25165A>G (n.71-25165A>G) c.43A>G (p.Thr15Ala) c.88A>G (p.Thr30Ala) | gnomAD v4 |
4 | g.101829870A>T | CA357951875 | BANK1 | c.133A>T (p.Thr45Ser) c.71-25165A>T (n.71-25165A>T) c.43A>T (p.Thr15Ser) c.88A>T (p.Thr30Ser) | |
4 | g.101829871C>A | CA357951877 | BANK1 | c.134C>A (p.Thr45Lys) c.71-25164C>A (n.71-25164C>A) c.44C>A (p.Thr15Lys) c.89C>A (p.Thr30Lys) | |
4 | g.101829871C= | CA1481095014 | BANK1 | c.134C= (p.Thr45=) c.71-25164C= (n.71-25164C=) c.44C= (p.Thr15=) c.89C= (p.Thr30=) | |
4 | g.101829871C>G | CA357951878 | BANK1 | c.134C>G (p.Thr45Arg) c.71-25164C>G (n.71-25164C>G) c.44C>G (p.Thr15Arg) c.89C>G (p.Thr30Arg) | |
4 | g.101829871C>T | CA3024739 | BANK1 | c.134C>T (p.Thr45Ile) c.71-25164C>T (n.71-25164C>T) c.44C>T (p.Thr15Ile) c.89C>T (p.Thr30Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101829872A= | CA1481095015 | BANK1 | c.135A= (p.Thr45=) c.71-25163A= (n.71-25163A=) c.45A= (p.Thr15=) c.90A= (p.Thr30=) | |
4 | g.101829872A>C | CA440820549 | BANK1 | c.135A>C (p.Thr45=) c.71-25163A>C (n.71-25163A>C) c.45A>C (p.Thr15=) c.90A>C (p.Thr30=) | gnomAD v4 |
4 | g.101829872A>G | CA3024740 | BANK1 | c.135A>G (p.Thr45=) c.71-25163A>G (n.71-25163A>G) c.45A>G (p.Thr15=) c.90A>G (p.Thr30=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101829872A>T | CA440820548 | BANK1 | c.135A>T (p.Thr45=) c.71-25163A>T (n.71-25163A>T) c.45A>T (p.Thr15=) c.90A>T (p.Thr30=) | |
4 | g.101829872_101829873delinsAG | CA1481095016 | BANK1 | c.135_136delinsAG (p.Thr45=) c.71-25163_71-25162delinsAG (n.71-25163_71-25162delinsAG) c.45_46delinsAG (p.Thr15=) c.90_91delinsAG (p.Thr30=) | |
4 | g.101829873del | CA554051169 | BANK1 | c.136del (p.Glu46LysfsTer7) c.71-25162del (n.71-25162del) c.46del (p.Glu16LysfsTer7) c.91del (p.Glu31LysfsTer7) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101829873G>A | CA357951881 | BANK1 | c.136G>A (p.Glu46Lys) c.71-25162G>A (n.71-25162G>A) c.46G>A (p.Glu16Lys) c.91G>A (p.Glu31Lys) | gnomAD v4 COSMIC |
4 | g.101829873G>C | CA357951879 | BANK1 | c.136G>C (p.Glu46Gln) c.71-25162G>C (n.71-25162G>C) c.46G>C (p.Glu16Gln) c.91G>C (p.Glu31Gln) | gnomAD v4 |
4 | g.101829873G= | CA1481095017 | BANK1 | c.136G= (p.Glu46=) c.71-25162G= (n.71-25162G=) c.46G= (p.Glu16=) c.91G= (p.Glu31=) | |
4 | g.101829873G>T | CA357951880 | BANK1 | c.136G>T (p.Glu46Ter) c.71-25162G>T (n.71-25162G>T) c.46G>T (p.Glu16Ter) c.91G>T (p.Glu31Ter) | dbSNP |
4 | g.101829874A>C | CA357951882 | BANK1 | c.137A>C (p.Glu46Ala) c.71-25161A>C (n.71-25161A>C) c.47A>C (p.Glu16Ala) c.92A>C (p.Glu31Ala) | |
4 | g.101829874A>G | CA357951883 | BANK1 | c.137A>G (p.Glu46Gly) c.71-25161A>G (n.71-25161A>G) c.47A>G (p.Glu16Gly) c.92A>G (p.Glu31Gly) | gnomAD v4 |
4 | g.101829874A>T | CA357951884 | BANK1 | c.137A>T (p.Glu46Val) c.71-25161A>T (n.71-25161A>T) c.47A>T (p.Glu16Val) c.92A>T (p.Glu31Val) | |
4 | g.101829875A>C | CA357951885 | BANK1 | c.138A>C (p.Glu46Asp) c.71-25160A>C (n.71-25160A>C) c.48A>C (p.Glu16Asp) c.93A>C (p.Glu31Asp) | |
4 | g.101829875A>G | CA440820557 | BANK1 | c.138A>G (p.Glu46=) c.71-25160A>G (n.71-25160A>G) c.48A>G (p.Glu16=) c.93A>G (p.Glu31=) | gnomAD v4 |
4 | g.101829875A>T | CA357951886 | BANK1 | c.138A>T (p.Glu46Asp) c.71-25160A>T (n.71-25160A>T) c.48A>T (p.Glu16Asp) c.93A>T (p.Glu31Asp) | |
4 | g.101829876G>A | CA357951889 | BANK1 | c.139G>A (p.Val47Ile) c.71-25159G>A (n.71-25159G>A) c.49G>A (p.Val17Ile) c.94G>A (p.Val32Ile) | dbSNP |
4 | g.101829876G>C | CA357951888 | BANK1 | c.139G>C (p.Val47Leu) c.71-25159G>C (n.71-25159G>C) c.49G>C (p.Val17Leu) c.94G>C (p.Val32Leu) | gnomAD v4 |
4 | g.101829876G= | CA1481095018 | BANK1 | c.139G= (p.Val47=) c.71-25159G= (n.71-25159G=) c.49G= (p.Val17=) c.94G= (p.Val32=) | |
4 | g.101829876G>T | CA357951887 | BANK1 | c.139G>T (p.Val47Leu) c.71-25159G>T (n.71-25159G>T) c.49G>T (p.Val17Leu) c.94G>T (p.Val32Leu) | |
4 | g.101829877T>A | CA103060855 | BANK1 | c.140T>A (p.Val47Glu) c.71-25158T>A (n.71-25158T>A) c.50T>A (p.Val17Glu) c.95T>A (p.Val32Glu) | dbSNP gnomAD v4 |
4 | g.101829877T>C | CA3024741 | BANK1 | c.140T>C (p.Val47Ala) c.71-25158T>C (n.71-25158T>C) c.50T>C (p.Val17Ala) c.95T>C (p.Val32Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101829877T>G | CA357951890 | BANK1 | c.140T>G (p.Val47Gly) c.71-25158T>G (n.71-25158T>G) c.50T>G (p.Val17Gly) c.95T>G (p.Val32Gly) | |
4 | g.101829877T= | CA1481095019 | BANK1 | c.140T= (p.Val47=) c.71-25158T= (n.71-25158T=) c.50T= (p.Val17=) c.95T= (p.Val32=) | |
4 | g.101829878A>C | CA440820562 | BANK1 | c.141A>C (p.Val47=) c.71-25157A>C (n.71-25157A>C) c.51A>C (p.Val17=) c.96A>C (p.Val32=) | gnomAD v4 |
4 | g.101829878A>G | CA440820563 | BANK1 | c.141A>G (p.Val47=) c.71-25157A>G (n.71-25157A>G) c.51A>G (p.Val17=) c.96A>G (p.Val32=) | |
4 | g.101829878A>T | CA440820564 | BANK1 | c.141A>T (p.Val47=) c.71-25157A>T (n.71-25157A>T) c.51A>T (p.Val17=) c.96A>T (p.Val32=) | |
4 | g.101829880_101829887del | CA645521619 | BANK1 | c.143_150del (p.Phe48CysfsTer?) c.71-25155_71-25148del (n.71-25155_71-25148del) c.53_60del (p.Phe18CysfsTer?) c.98_105del (p.Phe33CysfsTer?) | COSMIC |
4 | g.101829879T>A | CA357951891 | BANK1 | c.142T>A (p.Phe48Ile) c.71-25156T>A (n.71-25156T>A) c.52T>A (p.Phe18Ile) c.97T>A (p.Phe33Ile) | |
4 | g.101829879T>C | CA357951892 | BANK1 | c.142T>C (p.Phe48Leu) c.71-25156T>C (n.71-25156T>C) c.52T>C (p.Phe18Leu) c.97T>C (p.Phe33Leu) | |
4 | g.101829879T>G | CA357951893 | BANK1 | c.142T>G (p.Phe48Val) c.71-25156T>G (n.71-25156T>G) c.52T>G (p.Phe18Val) c.97T>G (p.Phe33Val) | |
4 | g.101829883dup | CA2671540494 | BANK1 | c.146dup (p.Leu49PhefsTer?) c.71-25152dup (n.71-25152dup) c.56dup (p.Leu19PhefsTer?) c.101dup (p.Leu34PhefsTer?) | gnomAD v4 |
4 | g.101829880T>A | CA357951896 | BANK1 | c.143T>A (p.Phe48Tyr) c.71-25155T>A (n.71-25155T>A) c.53T>A (p.Phe18Tyr) c.98T>A (p.Phe33Tyr) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.101829880T>C | CA357951894 | BANK1 | c.143T>C (p.Phe48Ser) c.71-25155T>C (n.71-25155T>C) c.53T>C (p.Phe18Ser) c.98T>C (p.Phe33Ser) | |
4 | g.101829880T>G | CA357951895 | BANK1 | c.143T>G (p.Phe48Cys) c.71-25155T>G (n.71-25155T>G) c.53T>G (p.Phe18Cys) c.98T>G (p.Phe33Cys) | |
4 | g.101829880T= | CA1481095020 | BANK1 | c.143T= (p.Phe48=) c.71-25155T= (n.71-25155T=) c.53T= (p.Phe18=) c.98T= (p.Phe33=) | |
4 | g.101829881T>A | CA357951897 | BANK1 | c.144T>A (p.Phe48Leu) c.71-25154T>A (n.71-25154T>A) c.54T>A (p.Phe18Leu) c.99T>A (p.Phe33Leu) | |
4 | g.101829881T>C | CA440820569 | BANK1 | c.144T>C (p.Phe48=) c.71-25154T>C (n.71-25154T>C) c.54T>C (p.Phe18=) c.99T>C (p.Phe33=) | |
4 | g.101829881T>G | CA357951898 | BANK1 | c.144T>G (p.Phe48Leu) c.71-25154T>G (n.71-25154T>G) c.54T>G (p.Phe18Leu) c.99T>G (p.Phe33Leu) | |
4 | g.101829882T>A | CA357951899 | BANK1 | c.145T>A (p.Leu49Ile) c.71-25153T>A (n.71-25153T>A) c.55T>A (p.Leu19Ile) c.100T>A (p.Leu34Ile) | |
4 | g.101829882T>C | CA440820570 | BANK1 | c.145T>C (p.Leu49=) c.71-25153T>C (n.71-25153T>C) c.55T>C (p.Leu19=) c.100T>C (p.Leu34=) | |
4 | g.101829882T>G | CA357951900 | BANK1 | c.145T>G (p.Leu49Val) c.71-25153T>G (n.71-25153T>G) c.55T>G (p.Leu19Val) c.100T>G (p.Leu34Val) | |
4 | g.101829883T>A | CA357951901 | BANK1 | c.146T>A (p.Leu49Ter) c.71-25152T>A (n.71-25152T>A) c.56T>A (p.Leu19Ter) c.101T>A (p.Leu34Ter) | |
4 | g.101829883T>C | CA357951902 | BANK1 | c.146T>C (p.Leu49Ser) c.71-25152T>C (n.71-25152T>C) c.56T>C (p.Leu19Ser) c.101T>C (p.Leu34Ser) | |
4 | g.101829883T>G | CA357951903 | BANK1 | c.146T>G (p.Leu49Ter) c.71-25152T>G (n.71-25152T>G) c.56T>G (p.Leu19Ter) c.101T>G (p.Leu34Ter) | |
4 | g.101829884A>C | CA357951904 | BANK1 | c.147A>C (p.Leu49Phe) c.71-25151A>C (n.71-25151A>C) c.57A>C (p.Leu19Phe) c.102A>C (p.Leu34Phe) | |
4 | g.101829884A>G | CA440820571 | BANK1 | c.147A>G (p.Leu49=) c.71-25151A>G (n.71-25151A>G) c.57A>G (p.Leu19=) c.102A>G (p.Leu34=) | gnomAD v4 |
4 | g.101829884A>T | CA357951905 | BANK1 | c.147A>T (p.Leu49Phe) c.71-25151A>T (n.71-25151A>T) c.57A>T (p.Leu19Phe) c.102A>T (p.Leu34Phe) | |
4 | g.101829885C>A | CA357951906 | BANK1 | c.148C>A (p.His50Asn) c.71-25150C>A (n.71-25150C>A) c.58C>A (p.His20Asn) c.103C>A (p.His35Asn) | |
4 | g.101829885C= | CA1481095021 | BANK1 | c.148C= (p.His50=) c.71-25150C= (n.71-25150C=) c.58C= (p.His20=) c.103C= (p.His35=) | |
4 | g.101829885C>G | CA357951907 | BANK1 | c.148C>G (p.His50Asp) c.71-25150C>G (n.71-25150C>G) c.58C>G (p.His20Asp) c.103C>G (p.His35Asp) | |
4 | g.101829885C>T | CA357951908 | BANK1 | c.148C>T (p.His50Tyr) c.71-25150C>T (n.71-25150C>T) c.58C>T (p.His20Tyr) c.103C>T (p.His35Tyr) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.101829886A= | CA1481095022 | BANK1 | c.149A= (p.His50=) c.71-25149A= (n.71-25149A=) c.59A= (p.His20=) c.104A= (p.His35=) | |
4 | g.101829886A>C | CA3024742 | BANK1 | c.149A>C (p.His50Pro) c.71-25149A>C (n.71-25149A>C) c.59A>C (p.His20Pro) c.104A>C (p.His35Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.101829886A>G | CA357951910 | BANK1 | c.149A>G (p.His50Arg) c.71-25149A>G (n.71-25149A>G) c.59A>G (p.His20Arg) c.104A>G (p.His35Arg) | |
4 | g.101829886A>T | CA357951909 | BANK1 | c.149A>T (p.His50Leu) c.71-25149A>T (n.71-25149A>T) c.59A>T (p.His20Leu) c.104A>T (p.His35Leu) | |
4 | g.101829887T>A | CA357951911 | BANK1 | c.150T>A (p.His50Gln) c.71-25148T>A (n.71-25148T>A) c.60T>A (p.His20Gln) c.105T>A (p.His35Gln) | |
4 | g.101829887T>C | CA440820575 | BANK1 | c.150T>C (p.His50=) c.71-25148T>C (n.71-25148T>C) c.60T>C (p.His20=) c.105T>C (p.His35=) | gnomAD v4 |
4 | g.101829887T>G | CA357951912 | BANK1 | c.150T>G (p.His50Gln) c.71-25148T>G (n.71-25148T>G) c.60T>G (p.His20Gln) c.105T>G (p.His35Gln) | |
4 | g.101829890_101829892del | CA2762859713 | BANK1 | c.153_155del (p.Val52del) c.71-25145_71-25143del (n.71-25145_71-25143del) c.63_65del (p.Val22del) c.108_110del (p.Val37del) | |
4 | g.101829888G>A | CA3024743 | BANK1 | c.151G>A (p.Val51Ile) c.71-25147G>A (n.71-25147G>A) c.61G>A (p.Val21Ile) c.106G>A (p.Val36Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101829888G>C | CA357951913 | BANK1 | c.151G>C (p.Val51Leu) c.71-25147G>C (n.71-25147G>C) c.61G>C (p.Val21Leu) c.106G>C (p.Val36Leu) | |
4 | g.101829888G= | CA1481095023 | BANK1 | c.151G= (p.Val51=) c.71-25147G= (n.71-25147G=) c.61G= (p.Val21=) c.106G= (p.Val36=) | |
4 | g.101829888G>T | CA357951914 | BANK1 | c.151G>T (p.Val51Phe) c.71-25147G>T (n.71-25147G>T) c.61G>T (p.Val21Phe) c.106G>T (p.Val36Phe) | |
4 | g.101829889T>A | CA357951915 | BANK1 | c.152T>A (p.Val51Asp) c.71-25146T>A (n.71-25146T>A) c.62T>A (p.Val21Asp) c.107T>A (p.Val36Asp) | |
4 | g.101829889T>C | CA3024744 | BANK1 | c.152T>C (p.Val51Ala) c.71-25146T>C (n.71-25146T>C) c.62T>C (p.Val21Ala) c.107T>C (p.Val36Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101829889T>G | CA357951916 | BANK1 | c.152T>G (p.Val51Gly) c.71-25146T>G (n.71-25146T>G) c.62T>G (p.Val21Gly) c.107T>G (p.Val36Gly) | |
4 | g.101829889T= | CA1481095024 | BANK1 | c.152T= (p.Val51=) c.71-25146T= (n.71-25146T=) c.62T= (p.Val21=) c.107T= (p.Val36=) | |
4 | g.101829890T>A | CA440820580 | BANK1 | c.153T>A (p.Val51=) c.71-25145T>A (n.71-25145T>A) c.63T>A (p.Val21=) c.108T>A (p.Val36=) | |
4 | g.101829890T>C | CA440820581 | BANK1 | c.153T>C (p.Val51=) c.71-25145T>C (n.71-25145T>C) c.63T>C (p.Val21=) c.108T>C (p.Val36=) | |
4 | g.101829890T>G | CA440820582 | BANK1 | c.153T>G (p.Val51=) c.71-25145T>G (n.71-25145T>G) c.63T>G (p.Val21=) c.108T>G (p.Val36=) | gnomAD v4 |
4 | g.101829891G>A | CA357951917 | BANK1 | c.154G>A (p.Val52Met) c.71-25144G>A (n.71-25144G>A) c.64G>A (p.Val22Met) c.109G>A (p.Val37Met) | |
4 | g.101829891G>C | CA357951918 | BANK1 | c.154G>C (p.Val52Leu) c.71-25144G>C (n.71-25144G>C) c.64G>C (p.Val22Leu) c.109G>C (p.Val37Leu) | |
4 | g.101829891G= | CA1481095025 | BANK1 | c.154G= (p.Val52=) c.71-25144G= (n.71-25144G=) c.64G= (p.Val22=) c.109G= (p.Val37=) | |
4 | g.101829891G>T | CA357951919 | BANK1 | c.154G>T (p.Val52Leu) c.71-25144G>T (n.71-25144G>T) c.64G>T (p.Val22Leu) c.109G>T (p.Val37Leu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.101829892T>A | CA357951920 | BANK1 | c.155T>A (p.Val52Glu) c.71-25143T>A (n.71-25143T>A) c.65T>A (p.Val22Glu) c.110T>A (p.Val37Glu) | |
4 | g.101829892T>C | CA357951921 | BANK1 | c.155T>C (p.Val52Ala) c.71-25143T>C (n.71-25143T>C) c.65T>C (p.Val22Ala) c.110T>C (p.Val37Ala) | |
4 | g.101829892T>G | CA357951922 | BANK1 | c.155T>G (p.Val52Gly) c.71-25143T>G (n.71-25143T>G) c.65T>G (p.Val22Gly) c.110T>G (p.Val37Gly) | |
4 | g.101829893G>A | CA440820585 | BANK1 | c.156G>A (p.Val52=) c.71-25142G>A (n.71-25142G>A) c.66G>A (p.Val22=) c.111G>A (p.Val37=) | dbSNP gnomAD v4 |
4 | g.101829893G>C | CA440820587 | BANK1 | c.156G>C (p.Val52=) c.71-25142G>C (n.71-25142G>C) c.66G>C (p.Val22=) c.111G>C (p.Val37=) | |
4 | g.101829893G>T | CA440820586 | BANK1 | c.156G>T (p.Val52=) c.71-25142G>T (n.71-25142G>T) c.66G>T (p.Val22=) c.111G>T (p.Val37=) | |
4 | g.101829894A= | CA1481095026 | BANK1 | c.157A= (p.Lys53=) c.71-25141A= (n.71-25141A=) c.67A= (p.Lys23=) c.112A= (p.Lys38=) | |
4 | g.101829894A>C | CA357951924 | BANK1 | c.157A>C (p.Lys53Gln) c.71-25141A>C (n.71-25141A>C) c.67A>C (p.Lys23Gln) c.112A>C (p.Lys38Gln) | |
4 | g.101829894A>G | CA3024745 | BANK1 | c.157A>G (p.Lys53Glu) c.71-25141A>G (n.71-25141A>G) c.67A>G (p.Lys23Glu) c.112A>G (p.Lys38Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101829894A>T | CA357951923 | BANK1 | c.157A>T (p.Lys53Ter) c.71-25141A>T (n.71-25141A>T) c.67A>T (p.Lys23Ter) c.112A>T (p.Lys38Ter) | |
4 | g.101829895A>C | CA357951925 | BANK1 | c.158A>C (p.Lys53Thr) c.71-25140A>C (n.71-25140A>C) c.68A>C (p.Lys23Thr) c.113A>C (p.Lys38Thr) | |
4 | g.101829895A>G | CA357951926 | BANK1 | c.158A>G (p.Lys53Arg) c.71-25140A>G (n.71-25140A>G) c.68A>G (p.Lys23Arg) c.113A>G (p.Lys38Arg) | |
4 | g.101829895A>T | CA357951927 | BANK1 | c.158A>T (p.Lys53Ile) c.71-25140A>T (n.71-25140A>T) c.68A>T (p.Lys23Ile) c.113A>T (p.Lys38Ile) | |
4 | g.101829896A>C | CA357951928 | BANK1 | c.159A>C (p.Lys53Asn) c.71-25139A>C (n.71-25139A>C) c.69A>C (p.Lys23Asn) c.114A>C (p.Lys38Asn) | |
4 | g.101829896A>G | CA440820590 | BANK1 | c.159A>G (p.Lys53=) c.71-25139A>G (n.71-25139A>G) c.69A>G (p.Lys23=) c.114A>G (p.Lys38=) | |
4 | g.101829896A>T | CA357951929 | BANK1 | c.159A>T (p.Lys53Asn) c.71-25139A>T (n.71-25139A>T) c.69A>T (p.Lys23Asn) c.114A>T (p.Lys38Asn) | |
4 | g.101829897A>C | CA440820591 | BANK1 | c.160A>C (p.Arg54=) c.71-25138A>C (n.71-25138A>C) c.70A>C (p.Arg24=) c.115A>C (p.Arg39=) | |
4 | g.101829897A>G | CA357951930 | BANK1 | c.160A>G (p.Arg54Gly) c.71-25138A>G (n.71-25138A>G) c.70A>G (p.Arg24Gly) c.115A>G (p.Arg39Gly) | |
4 | g.101829897A>T | CA357951931 | BANK1 | c.160A>T (p.Arg54Trp) c.71-25138A>T (n.71-25138A>T) c.70A>T (p.Arg24Trp) c.115A>T (p.Arg39Trp) | |
4 | g.101829898G>A | CA357951932 | BANK1 | c.161G>A (p.Arg54Lys) c.71-25137G>A (n.71-25137G>A) c.71G>A (p.Arg24Lys) c.116G>A (p.Arg39Lys) | |
4 | g.101829898G>C | CA357951933 | BANK1 | c.161G>C (p.Arg54Thr) c.71-25137G>C (n.71-25137G>C) c.71G>C (p.Arg24Thr) c.116G>C (p.Arg39Thr) | |
4 | g.101829898G>T | CA357951934 | BANK1 | c.161G>T (p.Arg54Met) c.71-25137G>T (n.71-25137G>T) c.71G>T (p.Arg24Met) c.116G>T (p.Arg39Met) | gnomAD v4 |
4 | g.101829899G>A | CA440820592 | BANK1 | c.162G>A (p.Arg54=) c.71-25136G>A (n.71-25136G>A) c.72G>A (p.Arg24=) c.117G>A (p.Arg39=) | gnomAD v4 |
4 | g.101829899G>C | CA357951935 | BANK1 | c.162G>C (p.Arg54Ser) c.71-25136G>C (n.71-25136G>C) c.72G>C (p.Arg24Ser) c.117G>C (p.Arg39Ser) | |
4 | g.101829899G>T | CA357951936 | BANK1 | c.162G>T (p.Arg54Ser) c.71-25136G>T (n.71-25136G>T) c.72G>T (p.Arg24Ser) c.117G>T (p.Arg39Ser) | |
4 | g.101829900G>A | CA357951939 | BANK1 | c.163G>A (p.Glu55Lys) c.71-25135G>A (n.71-25135G>A) c.73G>A (p.Glu25Lys) c.118G>A (p.Glu40Lys) | COSMIC |
4 | g.101829900G>C | CA357951938 | BANK1 | c.163G>C (p.Glu55Gln) c.71-25135G>C (n.71-25135G>C) c.73G>C (p.Glu25Gln) c.118G>C (p.Glu40Gln) | |
4 | g.101829900G>T | CA357951937 | BANK1 | c.163G>T (p.Glu55Ter) c.71-25135G>T (n.71-25135G>T) c.73G>T (p.Glu25Ter) c.118G>T (p.Glu40Ter) | |
4 | g.101829901A= | CA1481095027 | BANK1 | c.164A= (p.Glu55=) c.71-25134A= (n.71-25134A=) c.74A= (p.Glu25=) c.119A= (p.Glu40=) | |
4 | g.101829901A>C | CA357951940 | BANK1 | c.164A>C (p.Glu55Ala) c.71-25134A>C (n.71-25134A>C) c.74A>C (p.Glu25Ala) c.119A>C (p.Glu40Ala) | |
4 | g.101829901A>G | CA3024746 | BANK1 | c.164A>G (p.Glu55Gly) c.71-25134A>G (n.71-25134A>G) c.74A>G (p.Glu25Gly) c.119A>G (p.Glu40Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.101829901A>T | CA357951941 | BANK1 | c.164A>T (p.Glu55Val) c.71-25134A>T (n.71-25134A>T) c.74A>T (p.Glu25Val) c.119A>T (p.Glu40Val) | |
4 | g.101829902A>C | CA357951942 | BANK1 | c.165A>C (p.Glu55Asp) c.71-25133A>C (n.71-25133A>C) c.75A>C (p.Glu25Asp) c.120A>C (p.Glu40Asp) | |
4 | g.101829902A>G | CA440820595 | BANK1 | c.165A>G (p.Glu55=) c.71-25133A>G (n.71-25133A>G) c.75A>G (p.Glu25=) c.120A>G (p.Glu40=) | |
4 | g.101829902A>T | CA357951943 | BANK1 | c.165A>T (p.Glu55Asp) c.71-25133A>T (n.71-25133A>T) c.75A>T (p.Glu25Asp) c.120A>T (p.Glu40Asp) | |
4 | g.101829903G>A | CA357951945 | BANK1 | c.166G>A (p.Ala56Thr) c.71-25132G>A (n.71-25132G>A) c.76G>A (p.Ala26Thr) c.121G>A (p.Ala41Thr) | gnomAD v4 |
4 | g.101829903G>C | CA357951944 | BANK1 | c.166G>C (p.Ala56Pro) c.71-25132G>C (n.71-25132G>C) c.76G>C (p.Ala26Pro) c.121G>C (p.Ala41Pro) | |
4 | g.101829903G= | CA1481095028 | BANK1 | c.166G= (p.Ala56=) c.71-25132G= (n.71-25132G=) c.76G= (p.Ala26=) c.121G= (p.Ala41=) | |
4 | g.101829903G>T | CA103060856 | BANK1 | c.166G>T (p.Ala56Ser) c.71-25132G>T (n.71-25132G>T) c.76G>T (p.Ala26Ser) c.121G>T (p.Ala41Ser) | dbSNP gnomAD v4 |
4 | g.101829904C>A | CA357951946 | BANK1 | c.167C>A (p.Ala56Asp) c.71-25131C>A (n.71-25131C>A) c.77C>A (p.Ala26Asp) c.122C>A (p.Ala41Asp) | |
4 | g.101829904C= | CA1481095029 | BANK1 | c.167C= (p.Ala56=) c.71-25131C= (n.71-25131C=) c.77C= (p.Ala26=) c.122C= (p.Ala41=) | |
4 | g.101829904C>G | CA357951947 | BANK1 | c.167C>G (p.Ala56Gly) c.71-25131C>G (n.71-25131C>G) c.77C>G (p.Ala26Gly) c.122C>G (p.Ala41Gly) | |
4 | g.101829904C>T | CA357951948 | BANK1 | c.167C>T (p.Ala56Val) c.71-25131C>T (n.71-25131C>T) c.77C>T (p.Ala26Val) c.122C>T (p.Ala41Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101829905C>A | CA440820598 | BANK1 | c.168C>A (p.Ala56=) c.71-25130C>A (n.71-25130C>A) c.78C>A (p.Ala26=) c.123C>A (p.Ala41=) | |
4 | g.101829905C>G | CA440820600 | BANK1 | c.168C>G (p.Ala56=) c.71-25130C>G (n.71-25130C>G) c.78C>G (p.Ala26=) c.123C>G (p.Ala41=) | |
4 | g.101829905C>T | CA440820602 | BANK1 | c.168C>T (p.Ala56=) c.71-25130C>T (n.71-25130C>T) c.78C>T (p.Ala26=) c.123C>T (p.Ala41=) | |
4 | g.101829906A>C | CA357951949 | BANK1 | c.169A>C (p.Ile57Leu) c.71-25129A>C (n.71-25129A>C) c.79A>C (p.Ile27Leu) c.124A>C (p.Ile42Leu) | |
4 | g.101829906A>G | CA357951950 | BANK1 | c.169A>G (p.Ile57Val) c.71-25129A>G (n.71-25129A>G) c.79A>G (p.Ile27Val) c.124A>G (p.Ile42Val) | |
4 | g.101829906A>T | CA357951951 | BANK1 | c.169A>T (p.Ile57Phe) c.71-25129A>T (n.71-25129A>T) c.79A>T (p.Ile27Phe) c.124A>T (p.Ile42Phe) | |
4 | g.101829907T>A | CA357951952 | BANK1 | c.170T>A (p.Ile57Asn) c.71-25128T>A (n.71-25128T>A) c.80T>A (p.Ile27Asn) c.125T>A (p.Ile42Asn) | |
4 | g.101829907T>C | CA357951954 | BANK1 | c.170T>C (p.Ile57Thr) c.71-25128T>C (n.71-25128T>C) c.80T>C (p.Ile27Thr) c.125T>C (p.Ile42Thr) | |
4 | g.101829907T>G | CA357951953 | BANK1 | c.170T>G (p.Ile57Ser) c.71-25128T>G (n.71-25128T>G) c.80T>G (p.Ile27Ser) c.125T>G (p.Ile42Ser) | |
4 | g.101829908C>A | CA440820603 | BANK1 | c.171C>A (p.Ile57=) c.71-25127C>A (n.71-25127C>A) c.81C>A (p.Ile27=) c.126C>A (p.Ile42=) | |
4 | g.101829908C>G | CA357951955 | BANK1 | c.171C>G (p.Ile57Met) c.71-25127C>G (n.71-25127C>G) c.81C>G (p.Ile27Met) c.126C>G (p.Ile42Met) | |
4 | g.101829908C>T | CA440820605 | BANK1 | c.171C>T (p.Ile57=) c.71-25127C>T (n.71-25127C>T) c.81C>T (p.Ile27=) c.126C>T (p.Ile42=) | |
4 | g.101829909C>A | CA357951956 | BANK1 | c.172C>A (p.Leu58Met) c.71-25126C>A (n.71-25126C>A) c.82C>A (p.Leu28Met) c.127C>A (p.Leu43Met) | |
4 | g.101829909C= | CA1481095030 | BANK1 | c.172C= (p.Leu58=) c.71-25126C= (n.71-25126C=) c.82C= (p.Leu28=) c.127C= (p.Leu43=) | |
4 | g.101829909C>G | CA357951957 | BANK1 | c.172C>G (p.Leu58Val) c.71-25126C>G (n.71-25126C>G) c.82C>G (p.Leu28Val) c.127C>G (p.Leu43Val) | |
4 | g.101829909C>T | CA440820606 | BANK1 | c.172C>T (p.Leu58=) c.71-25126C>T (n.71-25126C>T) c.82C>T (p.Leu28=) c.127C>T (p.Leu43=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101829910T>A | CA357951958 | BANK1 | c.173T>A (p.Leu58Gln) c.71-25125T>A (n.71-25125T>A) c.83T>A (p.Leu28Gln) c.128T>A (p.Leu43Gln) | |
4 | g.101829910T>C | CA3024747 | BANK1 | c.173T>C (p.Leu58Pro) c.71-25125T>C (n.71-25125T>C) c.83T>C (p.Leu28Pro) c.128T>C (p.Leu43Pro) | dbSNP ExAC gnomAD v2 |
4 | g.101829910T>G | CA357951959 | BANK1 | c.173T>G (p.Leu58Arg) c.71-25125T>G (n.71-25125T>G) c.83T>G (p.Leu28Arg) c.128T>G (p.Leu43Arg) | |
4 | g.101829910T= | CA1481095031 | BANK1 | c.173T= (p.Leu58=) c.71-25125T= (n.71-25125T=) c.83T= (p.Leu28=) c.128T= (p.Leu43=) | |
4 | g.101829911G>A | CA440820607 | BANK1 | c.174G>A (p.Leu58=) c.71-25124G>A (n.71-25124G>A) c.84G>A (p.Leu28=) c.129G>A (p.Leu43=) | |
4 | g.101829911G>C | CA440820608 | BANK1 | c.174G>C (p.Leu58=) c.71-25124G>C (n.71-25124G>C) c.84G>C (p.Leu28=) c.129G>C (p.Leu43=) | |
4 | g.101829911G>T | CA440820609 | BANK1 | c.174G>T (p.Leu58=) c.71-25124G>T (n.71-25124G>T) c.84G>T (p.Leu28=) c.129G>T (p.Leu43=) | |
4 | g.101829912T>A | CA357951960 | BANK1 | c.175T>A (p.Leu59Ile) c.71-25123T>A (n.71-25123T>A) c.85T>A (p.Leu29Ile) c.130T>A (p.Leu44Ile) | |
4 | g.101829912T>C | CA440820610 | BANK1 | c.175T>C (p.Leu59=) c.71-25123T>C (n.71-25123T>C) c.85T>C (p.Leu29=) c.130T>C (p.Leu44=) | |
4 | g.101829912T>G | CA357951961 | BANK1 | c.175T>G (p.Leu59Val) c.71-25123T>G (n.71-25123T>G) c.85T>G (p.Leu29Val) c.130T>G (p.Leu44Val) | |
4 | g.101829913T>A | CA357951962 | BANK1 | c.176T>A (p.Leu59Ter) c.71-25122T>A (n.71-25122T>A) c.86T>A (p.Leu29Ter) c.131T>A (p.Leu44Ter) | |
4 | g.101829913T>C | CA357951963 | BANK1 | c.176T>C (p.Leu59Ser) c.71-25122T>C (n.71-25122T>C) c.86T>C (p.Leu29Ser) c.131T>C (p.Leu44Ser) | gnomAD v4 COSMIC |
4 | g.101829913T>G | CA357951964 | BANK1 | c.176T>G (p.Leu59Ter) c.71-25122T>G (n.71-25122T>G) c.86T>G (p.Leu29Ter) c.131T>G (p.Leu44Ter) | |
4 | g.101829914A= | CA1481095032 | BANK1 | c.177A= (p.Leu59=) c.71-25121A= (n.71-25121A=) c.87A= (p.Leu29=) c.132A= (p.Leu44=) | |
4 | g.101829914A>C | CA357951965 | BANK1 | c.177A>C (p.Leu59Phe) c.71-25121A>C (n.71-25121A>C) c.87A>C (p.Leu29Phe) c.132A>C (p.Leu44Phe) | |
4 | g.101829914A>G | CA440820612 | BANK1 | c.177A>G (p.Leu59=) c.71-25121A>G (n.71-25121A>G) c.87A>G (p.Leu29=) c.132A>G (p.Leu44=) | gnomAD v4 |
4 | g.101829914A>T | CA103060857 | BANK1 | c.177A>T (p.Leu59Phe) c.71-25121A>T (n.71-25121A>T) c.87A>T (p.Leu29Phe) c.132A>T (p.Leu44Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101829915T>A | CA3024750 | BANK1 | c.178T>A (p.Tyr60Asn) c.71-25120T>A (n.71-25120T>A) c.88T>A (p.Tyr30Asn) c.133T>A (p.Tyr45Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101829915T>C | CA3024748 | BANK1 | c.178T>C (p.Tyr60His) c.71-25120T>C (n.71-25120T>C) c.88T>C (p.Tyr30His) c.133T>C (p.Tyr45His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101829915T>G | CA3024749 | BANK1 | c.178T>G (p.Tyr60Asp) c.71-25120T>G (n.71-25120T>G) c.88T>G (p.Tyr30Asp) c.133T>G (p.Tyr45Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.101829915T= | CA1481095033 | BANK1 | c.178T= (p.Tyr60=) c.71-25120T= (n.71-25120T=) c.88T= (p.Tyr30=) c.133T= (p.Tyr45=) | |
4 | g.101829916A>C | CA357951966 | BANK1 | c.179A>C (p.Tyr60Ser) c.71-25119A>C (n.71-25119A>C) c.89A>C (p.Tyr30Ser) c.134A>C (p.Tyr45Ser) | |
4 | g.101829916A>G | CA357951967 | BANK1 | c.179A>G (p.Tyr60Cys) c.71-25119A>G (n.71-25119A>G) c.89A>G (p.Tyr30Cys) c.134A>G (p.Tyr45Cys) | gnomAD v4 |
4 | g.101829916A>T | CA357951968 | BANK1 | c.179A>T (p.Tyr60Phe) c.71-25119A>T (n.71-25119A>T) c.89A>T (p.Tyr30Phe) c.134A>T (p.Tyr45Phe) | |
4 | g.101829917T>A | CA357951969 | BANK1 | c.180T>A (p.Tyr60Ter) c.71-25118T>A (n.71-25118T>A) c.90T>A (p.Tyr30Ter) c.135T>A (p.Tyr45Ter) | |
4 | g.101829917T>C | CA440820616 | BANK1 | c.180T>C (p.Tyr60=) c.71-25118T>C (n.71-25118T>C) c.90T>C (p.Tyr30=) c.135T>C (p.Tyr45=) | gnomAD v4 |
4 | g.101829917T>G | CA357951970 | BANK1 | c.180T>G (p.Tyr60Ter) c.71-25118T>G (n.71-25118T>G) c.90T>G (p.Tyr30Ter) c.135T>G (p.Tyr45Ter) | gnomAD v4 |
4 | g.101829918C>A | CA357951971 | BANK1 | c.181C>A (p.Arg61Ser) c.71-25117C>A (n.71-25117C>A) c.91C>A (p.Arg31Ser) c.136C>A (p.Arg46Ser) | |
4 | g.101829918C= | CA1481095034 | BANK1 | c.181C= (p.Arg61=) c.71-25117C= (n.71-25117C=) c.91C= (p.Arg31=) c.136C= (p.Arg46=) | |
4 | g.101829918C>G | CA357951972 | BANK1 | c.181C>G (p.Arg61Gly) c.71-25117C>G (n.71-25117C>G) c.91C>G (p.Arg31Gly) c.136C>G (p.Arg46Gly) | dbSNP |
4 | g.101829918C>T | CA3024751 | BANK1 | c.181C>T (p.Arg61Cys) c.71-25117C>T (n.71-25117C>T) c.91C>T (p.Arg31Cys) c.136C>T (p.Arg46Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.101829919G>A | CA210675 | BANK1 | c.182G>A (p.Arg61His) c.71-25116G>A (n.71-25116G>A) c.92G>A (p.Arg31His) c.137G>A (p.Arg46His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101829919G>C | CA357951973 | BANK1 | c.182G>C (p.Arg61Pro) c.71-25116G>C (n.71-25116G>C) c.92G>C (p.Arg31Pro) c.137G>C (p.Arg46Pro) | gnomAD v4 |
4 | g.101829919G= | CA1481095035 | BANK1 | c.182G= (p.Arg61=) c.71-25116G= (n.71-25116G=) c.92G= (p.Arg31=) c.137G= (p.Arg46=) | |
4 | g.101829919G>T | CA3024752 | BANK1 | c.182G>T (p.Arg61Leu) c.71-25116G>T (n.71-25116G>T) c.92G>T (p.Arg31Leu) c.137G>T (p.Arg46Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.101829920C>A | CA440820619 | BANK1 | c.183C>A (p.Arg61=) c.71-25115C>A (n.71-25115C>A) c.93C>A (p.Arg31=) c.138C>A (p.Arg46=) | |
4 | g.101829920C>G | CA440820620 | BANK1 | c.183C>G (p.Arg61=) c.71-25115C>G (n.71-25115C>G) c.93C>G (p.Arg31=) c.138C>G (p.Arg46=) | |
4 | g.101829920C>T | CA440820621 | BANK1 | c.183C>T (p.Arg61=) c.71-25115C>T (n.71-25115C>T) c.93C>T (p.Arg31=) c.138C>T (p.Arg46=) | |
4 | g.101829921T>A | CA357951974 | BANK1 | c.184T>A (p.Leu62Met) c.71-25114T>A (n.71-25114T>A) c.94T>A (p.Leu32Met) c.139T>A (p.Leu47Met) | |
4 | g.101829921T>C | CA103060858 | BANK1 | c.184T>C (p.Leu62=) c.71-25114T>C (n.71-25114T>C) c.94T>C (p.Leu32=) c.139T>C (p.Leu47=) | dbSNP |
4 | g.101829921T>G | CA357951975 | BANK1 | c.184T>G (p.Leu62Val) c.71-25114T>G (n.71-25114T>G) c.94T>G (p.Leu32Val) c.139T>G (p.Leu47Val) | gnomAD v4 |
4 | g.101829921T= | CA1481095036 | BANK1 | c.184T= (p.Leu62=) c.71-25114T= (n.71-25114T=) c.94T= (p.Leu32=) c.139T= (p.Leu47=) | |
4 | g.101829922T>A | CA357951978 | BANK1 | c.185T>A (p.Leu62Ter) c.71-25113T>A (n.71-25113T>A) c.95T>A (p.Leu32Ter) c.140T>A (p.Leu47Ter) | |
4 | g.101829922T>C | CA357951977 | BANK1 | c.185T>C (p.Leu62Ser) c.71-25113T>C (n.71-25113T>C) c.95T>C (p.Leu32Ser) c.140T>C (p.Leu47Ser) | |
4 | g.101829922T>G | CA357951976 | BANK1 | c.185T>G (p.Leu62Trp) c.71-25113T>G (n.71-25113T>G) c.95T>G (p.Leu32Trp) c.140T>G (p.Leu47Trp) | dbSNP gnomAD v4 |
4 | g.101829922T= | CA1481095037 | BANK1 | c.185T= (p.Leu62=) c.71-25113T= (n.71-25113T=) c.95T= (p.Leu32=) c.140T= (p.Leu47=) | |
4 | g.101829923G>A | CA440820623 | BANK1 | c.186G>A (p.Leu62=) c.71-25112G>A (n.71-25112G>A) c.96G>A (p.Leu32=) c.141G>A (p.Leu47=) | |
4 | g.101829923G>C | CA357951979 | BANK1 | c.186G>C (p.Leu62Phe) c.71-25112G>C (n.71-25112G>C) c.96G>C (p.Leu32Phe) c.141G>C (p.Leu47Phe) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.101829923G= | CA1481095038 | BANK1 | c.186G= (p.Leu62=) c.71-25112G= (n.71-25112G=) c.96G= (p.Leu32=) c.141G= (p.Leu47=) | |
4 | g.101829923G>T | CA357951980 | BANK1 | c.186G>T (p.Leu62Phe) c.71-25112G>T (n.71-25112G>T) c.96G>T (p.Leu32Phe) c.141G>T (p.Leu47Phe) | |
4 | g.101829924G>A | CA103060859 | BANK1 | c.187G>A (p.Glu63Lys) c.71-25111G>A (n.71-25111G>A) c.97G>A (p.Glu33Lys) c.142G>A (p.Glu48Lys) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.101829924G>C | CA357951981 | BANK1 | c.187G>C (p.Glu63Gln) c.71-25111G>C (n.71-25111G>C) c.97G>C (p.Glu33Gln) c.142G>C (p.Glu48Gln) | |
4 | g.101829924G= | CA1481095039 | BANK1 | c.187G= (p.Glu63=) c.71-25111G= (n.71-25111G=) c.97G= (p.Glu33=) c.142G= (p.Glu48=) | |
4 | g.101829924G>T | CA357951982 | BANK1 | c.187G>T (p.Glu63Ter) c.71-25111G>T (n.71-25111G>T) c.97G>T (p.Glu33Ter) c.142G>T (p.Glu48Ter) | |
4 | g.101829925A>C | CA357951983 | BANK1 | c.188A>C (p.Glu63Ala) c.71-25110A>C (n.71-25110A>C) c.98A>C (p.Glu33Ala) c.143A>C (p.Glu48Ala) | |
4 | g.101829925A>G | CA357951984 | BANK1 | c.188A>G (p.Glu63Gly) c.71-25110A>G (n.71-25110A>G) c.98A>G (p.Glu33Gly) c.143A>G (p.Glu48Gly) | gnomAD v4 |
4 | g.101829925A>T | CA357951985 | BANK1 | c.188A>T (p.Glu63Val) c.71-25110A>T (n.71-25110A>T) c.98A>T (p.Glu33Val) c.143A>T (p.Glu48Val) | |
4 | g.101829926G>A | CA440820625 | BANK1 | c.189G>A (p.Glu63=) c.71-25109G>A (n.71-25109G>A) c.99G>A (p.Glu33=) c.144G>A (p.Glu48=) | |
4 | g.101829926G>C | CA357951986 | BANK1 | c.189G>C (p.Glu63Asp) c.71-25109G>C (n.71-25109G>C) c.99G>C (p.Glu33Asp) c.144G>C (p.Glu48Asp) | |
4 | g.101829926G= | CA1481095040 | BANK1 | c.189G= (p.Glu63=) c.71-25109G= (n.71-25109G=) c.99G= (p.Glu33=) c.144G= (p.Glu48=) | |
4 | g.101829926G>T | CA357951987 | BANK1 | c.189G>T (p.Glu63Asp) c.71-25109G>T (n.71-25109G>T) c.99G>T (p.Glu33Asp) c.144G>T (p.Glu48Asp) | dbSNP |
4 | g.101829927A>C | CA357951988 | BANK1 | c.190A>C (p.Asn64His) c.71-25108A>C (n.71-25108A>C) c.100A>C (p.Asn34His) c.145A>C (p.Asn49His) | |
4 | g.101829927A>G | CA357951989 | BANK1 | c.190A>G (p.Asn64Asp) c.71-25108A>G (n.71-25108A>G) c.100A>G (p.Asn34Asp) c.145A>G (p.Asn49Asp) | |
4 | g.101829927A>T | CA357951990 | BANK1 | c.190A>T (p.Asn64Tyr) c.71-25108A>T (n.71-25108A>T) c.100A>T (p.Asn34Tyr) c.145A>T (p.Asn49Tyr) |