Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.15218776T>A | CA345883703 | NBAS | c.4415A>T c.4426+13646A>T c.940A>T c.2285A>T c.6429A>T (p.Arg2143Ser) c.512+13646A>T (n.512+13646A>T) c.3572A>T n.6280+13646A>T c.6300A>T (p.Arg2100Ser) c.5790A>T (p.Arg1930Ser) c.4230A>T (p.Arg1410Ser) c.4221A>T (p.Arg1407Ser) n.6266+13646A>T | |
2 | g.15218776T>C | CA424866896 | NBAS | c.4415A>G c.4426+13646A>G c.940A>G c.2285A>G c.6429A>G (p.Arg2143=) c.512+13646A>G (n.512+13646A>G) c.3572A>G n.6280+13646A>G c.6300A>G (p.Arg2100=) c.5790A>G (p.Arg1930=) c.4230A>G (p.Arg1410=) c.4221A>G (p.Arg1407=) n.6266+13646A>G | gnomAD v4 |
2 | g.15218776T>G | CA345883705 | NBAS | c.4415A>C c.4426+13646A>C c.940A>C c.2285A>C c.6429A>C (p.Arg2143Ser) c.512+13646A>C (n.512+13646A>C) c.3572A>C n.6280+13646A>C c.6300A>C (p.Arg2100Ser) c.5790A>C (p.Arg1930Ser) c.4230A>C (p.Arg1410Ser) c.4221A>C (p.Arg1407Ser) n.6266+13646A>C | |
2 | g.15218777C>A | CA345883707 | NBAS | c.4414G>T c.4426+13645G>T c.939G>T c.2284G>T c.6428G>T (p.Arg2143Ile) c.512+13645G>T (n.512+13645G>T) c.3571G>T n.6280+13645G>T c.6299G>T (p.Arg2100Ile) c.5789G>T (p.Arg1930Ile) c.4229G>T (p.Arg1410Ile) c.4220G>T (p.Arg1407Ile) n.6266+13645G>T | |
2 | g.15218777C>G | CA345883709 | NBAS | c.4414G>C c.4426+13645G>C c.939G>C c.2284G>C c.6428G>C (p.Arg2143Thr) c.512+13645G>C (n.512+13645G>C) c.3571G>C n.6280+13645G>C c.6299G>C (p.Arg2100Thr) c.5789G>C (p.Arg1930Thr) c.4229G>C (p.Arg1410Thr) c.4220G>C (p.Arg1407Thr) n.6266+13645G>C | gnomAD v4 |
2 | g.15218777C>T | CA345883711 | NBAS | c.4414G>A c.4426+13645G>A c.939G>A c.2284G>A c.6428G>A (p.Arg2143Lys) c.512+13645G>A (n.512+13645G>A) c.3571G>A n.6280+13645G>A c.6299G>A (p.Arg2100Lys) c.5789G>A (p.Arg1930Lys) c.4229G>A (p.Arg1410Lys) c.4220G>A (p.Arg1407Lys) n.6266+13645G>A | |
2 | g.15218778T>A | CA345883714 | NBAS | c.4413A>T c.4426+13644A>T c.938A>T c.2283A>T c.6427A>T (p.Arg2143Ter) c.512+13644A>T (n.512+13644A>T) c.3570A>T n.6280+13644A>T c.6298A>T (p.Arg2100Ter) c.5788A>T (p.Arg1930Ter) c.4228A>T (p.Arg1410Ter) c.4219A>T (p.Arg1407Ter) n.6266+13644A>T | |
2 | g.15218778T>C | CA345883716 | NBAS | c.4413A>G c.4426+13644A>G c.938A>G c.2283A>G c.6427A>G (p.Arg2143Gly) c.512+13644A>G (n.512+13644A>G) c.3570A>G n.6280+13644A>G c.6298A>G (p.Arg2100Gly) c.5788A>G (p.Arg1930Gly) c.4228A>G (p.Arg1410Gly) c.4219A>G (p.Arg1407Gly) n.6266+13644A>G | |
2 | g.15218778T>G | CA424866897 | NBAS | c.4413A>C c.4426+13644A>C c.938A>C c.2283A>C c.6427A>C (p.Arg2143=) c.512+13644A>C (n.512+13644A>C) c.3570A>C n.6280+13644A>C c.6298A>C (p.Arg2100=) c.5788A>C (p.Arg1930=) c.4228A>C (p.Arg1410=) c.4219A>C (p.Arg1407=) n.6266+13644A>C | dbSNP |
2 | g.15218778T= | CA2490796176 | NBAS | c.4413A= c.4426+13644A= c.938A= c.2283A= c.6427A= (p.Arg2143=) c.512+13644A= (n.512+13644A=) c.3570A= n.6280+13644A= c.6298A= (p.Arg2100=) c.5788A= (p.Arg1930=) c.4228A= (p.Arg1410=) c.4219A= (p.Arg1407=) n.6266+13644A= | |
2 | g.15218779C>A | CA345883719 | NBAS | c.4412G>T c.4426+13643G>T c.937G>T c.2282G>T c.6426G>T (p.Gln2142His) c.512+13643G>T (n.512+13643G>T) c.3569G>T n.6280+13643G>T c.6297G>T (p.Gln2099His) c.5787G>T (p.Gln1929His) c.4227G>T (p.Gln1409His) c.4218G>T (p.Gln1406His) n.6266+13643G>T | |
2 | g.15218779C>G | CA345883720 | NBAS | c.4412G>C c.4426+13643G>C c.937G>C c.2282G>C c.6426G>C (p.Gln2142His) c.512+13643G>C (n.512+13643G>C) c.3569G>C n.6280+13643G>C c.6297G>C (p.Gln2099His) c.5787G>C (p.Gln1929His) c.4227G>C (p.Gln1409His) c.4218G>C (p.Gln1406His) n.6266+13643G>C | |
2 | g.15218779C>T | CA424866898 | NBAS | c.4412G>A c.4426+13643G>A c.937G>A c.2282G>A c.6426G>A (p.Gln2142=) c.512+13643G>A (n.512+13643G>A) c.3569G>A n.6280+13643G>A c.6297G>A (p.Gln2099=) c.5787G>A (p.Gln1929=) c.4227G>A (p.Gln1409=) c.4218G>A (p.Gln1406=) n.6266+13643G>A | |
2 | g.15218780T>A | CA345883722 | NBAS | c.4411A>T c.4426+13642A>T c.936A>T c.2281A>T c.6425A>T (p.Gln2142Leu) c.512+13642A>T (n.512+13642A>T) c.3568A>T n.6280+13642A>T c.6296A>T (p.Gln2099Leu) c.5786A>T (p.Gln1929Leu) c.4226A>T (p.Gln1409Leu) c.4217A>T (p.Gln1406Leu) n.6266+13642A>T | |
2 | g.15218780T>C | CA345883726 | NBAS | c.4411A>G c.4426+13642A>G c.936A>G c.2281A>G c.6425A>G (p.Gln2142Arg) c.512+13642A>G (n.512+13642A>G) c.3568A>G n.6280+13642A>G c.6296A>G (p.Gln2099Arg) c.5786A>G (p.Gln1929Arg) c.4226A>G (p.Gln1409Arg) c.4217A>G (p.Gln1406Arg) n.6266+13642A>G | |
2 | g.15218780T>G | CA345883724 | NBAS | c.4411A>C c.4426+13642A>C c.936A>C c.2281A>C c.6425A>C (p.Gln2142Pro) c.512+13642A>C (n.512+13642A>C) c.3568A>C n.6280+13642A>C c.6296A>C (p.Gln2099Pro) c.5786A>C (p.Gln1929Pro) c.4226A>C (p.Gln1409Pro) c.4217A>C (p.Gln1406Pro) n.6266+13642A>C | |
2 | g.15218781G>A | CA345883728 | NBAS | c.4410C>T c.4426+13641C>T c.935C>T c.2280C>T c.6424C>T (p.Gln2142Ter) c.512+13641C>T (n.512+13641C>T) c.3567C>T n.6280+13641C>T c.6295C>T (p.Gln2099Ter) c.5785C>T (p.Gln1929Ter) c.4225C>T (p.Gln1409Ter) c.4216C>T (p.Gln1406Ter) n.6266+13641C>T | |
2 | g.15218781G>C | CA345883732 | NBAS | c.4410C>G c.4426+13641C>G c.935C>G c.2280C>G c.6424C>G (p.Gln2142Glu) c.512+13641C>G (n.512+13641C>G) c.3567C>G n.6280+13641C>G c.6295C>G (p.Gln2099Glu) c.5785C>G (p.Gln1929Glu) c.4225C>G (p.Gln1409Glu) c.4216C>G (p.Gln1406Glu) n.6266+13641C>G | |
2 | g.15218781G>T | CA345883730 | NBAS | c.4410C>A c.4426+13641C>A c.935C>A c.2280C>A c.6424C>A (p.Gln2142Lys) c.512+13641C>A (n.512+13641C>A) c.3567C>A n.6280+13641C>A c.6295C>A (p.Gln2099Lys) c.5785C>A (p.Gln1929Lys) c.4225C>A (p.Gln1409Lys) c.4216C>A (p.Gln1406Lys) n.6266+13641C>A | |
2 | g.15218782G>A | CA424866899 | NBAS | c.4409C>T c.4426+13640C>T c.934C>T c.2279C>T c.6423C>T (p.Pro2141=) c.512+13640C>T (n.512+13640C>T) c.3566C>T n.6280+13640C>T c.6294C>T (p.Pro2098=) c.5784C>T (p.Pro1928=) c.4224C>T (p.Pro1408=) c.4215C>T (p.Pro1405=) n.6266+13640C>T | gnomAD v4 COSMIC |
2 | g.15218782G>C | CA424866900 | NBAS | c.4409C>G c.4426+13640C>G c.934C>G c.2279C>G c.6423C>G (p.Pro2141=) c.512+13640C>G (n.512+13640C>G) c.3566C>G n.6280+13640C>G c.6294C>G (p.Pro2098=) c.5784C>G (p.Pro1928=) c.4224C>G (p.Pro1408=) c.4215C>G (p.Pro1405=) n.6266+13640C>G | gnomAD v4 |
2 | g.15218782G>T | CA424866901 | NBAS | c.4409C>A c.4426+13640C>A c.934C>A c.2279C>A c.6423C>A (p.Pro2141=) c.512+13640C>A (n.512+13640C>A) c.3566C>A n.6280+13640C>A c.6294C>A (p.Pro2098=) c.5784C>A (p.Pro1928=) c.4224C>A (p.Pro1408=) c.4215C>A (p.Pro1405=) n.6266+13640C>A | |
2 | g.15218783G>A | CA345883734 | NBAS | c.4408C>T c.4426+13639C>T c.933C>T c.2278C>T c.6422C>T (p.Pro2141Leu) c.512+13639C>T (n.512+13639C>T) c.3565C>T n.6280+13639C>T c.6293C>T (p.Pro2098Leu) c.5783C>T (p.Pro1928Leu) c.4223C>T (p.Pro1408Leu) c.4214C>T (p.Pro1405Leu) n.6266+13639C>T | |
2 | g.15218783G>C | CA345883737 | NBAS | c.4408C>G c.4426+13639C>G c.933C>G c.2278C>G c.6422C>G (p.Pro2141Arg) c.512+13639C>G (n.512+13639C>G) c.3565C>G n.6280+13639C>G c.6293C>G (p.Pro2098Arg) c.5783C>G (p.Pro1928Arg) c.4223C>G (p.Pro1408Arg) c.4214C>G (p.Pro1405Arg) n.6266+13639C>G | gnomAD v4 |
2 | g.15218783G= | CA2490796177 | NBAS | c.4408C= c.4426+13639C= c.933C= c.2278C= c.6422C= (p.Pro2141=) c.512+13639C= (n.512+13639C=) c.3565C= n.6280+13639C= c.6293C= (p.Pro2098=) c.5783C= (p.Pro1928=) c.4223C= (p.Pro1408=) c.4214C= (p.Pro1405=) n.6266+13639C= | |
2 | g.15218783G>T | CA1535017 | NBAS | c.4408C>A c.4426+13639C>A c.933C>A c.2278C>A c.6422C>A (p.Pro2141His) c.512+13639C>A (n.512+13639C>A) c.3565C>A n.6280+13639C>A c.6293C>A (p.Pro2098His) c.5783C>A (p.Pro1928His) c.4223C>A (p.Pro1408His) c.4214C>A (p.Pro1405His) n.6266+13639C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15218784G>A | CA345883739 | NBAS | c.4407C>T c.4426+13638C>T c.932C>T c.2277C>T c.6421C>T (p.Pro2141Ser) c.512+13638C>T (n.512+13638C>T) c.3564C>T n.6280+13638C>T c.6292C>T (p.Pro2098Ser) c.5782C>T (p.Pro1928Ser) c.4222C>T (p.Pro1408Ser) c.4213C>T (p.Pro1405Ser) n.6266+13638C>T | gnomAD v4 |
2 | g.15218784G>C | CA345883743 | NBAS | c.4407C>G c.4426+13638C>G c.932C>G c.2277C>G c.6421C>G (p.Pro2141Ala) c.512+13638C>G (n.512+13638C>G) c.3564C>G n.6280+13638C>G c.6292C>G (p.Pro2098Ala) c.5782C>G (p.Pro1928Ala) c.4222C>G (p.Pro1408Ala) c.4213C>G (p.Pro1405Ala) n.6266+13638C>G | |
2 | g.15218784G>T | CA345883741 | NBAS | c.4407C>A c.4426+13638C>A c.932C>A c.2277C>A c.6421C>A (p.Pro2141Thr) c.512+13638C>A (n.512+13638C>A) c.3564C>A n.6280+13638C>A c.6292C>A (p.Pro2098Thr) c.5782C>A (p.Pro1928Thr) c.4222C>A (p.Pro1408Thr) c.4213C>A (p.Pro1405Thr) n.6266+13638C>A | |
2 | g.15218785C>A | CA345883745 | NBAS | c.4406G>T c.4426+13637G>T c.931G>T c.2276G>T c.6420G>T (p.Trp2140Cys) c.512+13637G>T (n.512+13637G>T) c.3563G>T n.6280+13637G>T c.6291G>T (p.Trp2097Cys) c.5781G>T (p.Trp1927Cys) c.4221G>T (p.Trp1407Cys) c.4212G>T (p.Trp1404Cys) n.6266+13637G>T | |
2 | g.15218785C>G | CA345883747 | NBAS | c.4406G>C c.4426+13637G>C c.931G>C c.2276G>C c.6420G>C (p.Trp2140Cys) c.512+13637G>C (n.512+13637G>C) c.3563G>C n.6280+13637G>C c.6291G>C (p.Trp2097Cys) c.5781G>C (p.Trp1927Cys) c.4221G>C (p.Trp1407Cys) c.4212G>C (p.Trp1404Cys) n.6266+13637G>C | |
2 | g.15218785C>T | CA345883748 | NBAS | c.4406G>A c.4426+13637G>A c.931G>A c.2276G>A c.6420G>A (p.Trp2140Ter) c.512+13637G>A (n.512+13637G>A) c.3563G>A n.6280+13637G>A c.6291G>A (p.Trp2097Ter) c.5781G>A (p.Trp1927Ter) c.4221G>A (p.Trp1407Ter) c.4212G>A (p.Trp1404Ter) n.6266+13637G>A | |
2 | g.15218786C>A | CA345883750 | NBAS | c.4405G>T c.4426+13636G>T c.930G>T c.2275G>T c.6419G>T (p.Trp2140Leu) c.512+13636G>T (n.512+13636G>T) c.3562G>T n.6280+13636G>T c.6290G>T (p.Trp2097Leu) c.5780G>T (p.Trp1927Leu) c.4220G>T (p.Trp1407Leu) c.4211G>T (p.Trp1404Leu) n.6266+13636G>T | |
2 | g.15218786C>G | CA345883753 | NBAS | c.4405G>C c.4426+13636G>C c.930G>C c.2275G>C c.6419G>C (p.Trp2140Ser) c.512+13636G>C (n.512+13636G>C) c.3562G>C n.6280+13636G>C c.6290G>C (p.Trp2097Ser) c.5780G>C (p.Trp1927Ser) c.4220G>C (p.Trp1407Ser) c.4211G>C (p.Trp1404Ser) n.6266+13636G>C | |
2 | g.15218786C>T | CA345883755 | NBAS | c.4405G>A c.4426+13636G>A c.930G>A c.2275G>A c.6419G>A (p.Trp2140Ter) c.512+13636G>A (n.512+13636G>A) c.3562G>A n.6280+13636G>A c.6290G>A (p.Trp2097Ter) c.5780G>A (p.Trp1927Ter) c.4220G>A (p.Trp1407Ter) c.4211G>A (p.Trp1404Ter) n.6266+13636G>A | |
2 | g.15218787A= | CA2490796178 | NBAS | c.4404T= c.4426+13635T= c.929T= c.2274T= c.6418T= (p.Trp2140=) c.512+13635T= (n.512+13635T=) c.3561T= n.6280+13635T= c.6289T= (p.Trp2097=) c.5779T= (p.Trp1927=) c.4219T= (p.Trp1407=) c.4210T= (p.Trp1404=) n.6266+13635T= | |
2 | g.15218787A>C | CA345883757 | NBAS | c.4404T>G c.4426+13635T>G c.929T>G c.2274T>G c.6418T>G (p.Trp2140Gly) c.512+13635T>G (n.512+13635T>G) c.3561T>G n.6280+13635T>G c.6289T>G (p.Trp2097Gly) c.5779T>G (p.Trp1927Gly) c.4219T>G (p.Trp1407Gly) c.4210T>G (p.Trp1404Gly) n.6266+13635T>G | |
2 | g.15218787A>G | CA1535018 | NBAS | c.4404T>C c.4426+13635T>C c.929T>C c.2274T>C c.6418T>C (p.Trp2140Arg) c.512+13635T>C (n.512+13635T>C) c.3561T>C n.6280+13635T>C c.6289T>C (p.Trp2097Arg) c.5779T>C (p.Trp1927Arg) c.4219T>C (p.Trp1407Arg) c.4210T>C (p.Trp1404Arg) n.6266+13635T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218787A>T | CA345883760 | NBAS | c.4404T>A c.4426+13635T>A c.929T>A c.2274T>A c.6418T>A (p.Trp2140Arg) c.512+13635T>A (n.512+13635T>A) c.3561T>A n.6280+13635T>A c.6289T>A (p.Trp2097Arg) c.5779T>A (p.Trp1927Arg) c.4219T>A (p.Trp1407Arg) c.4210T>A (p.Trp1404Arg) n.6266+13635T>A | gnomAD v4 |
2 | g.15218788G>A | CA424866902 | NBAS | c.4403C>T c.4426+13634C>T c.928C>T c.2273C>T c.6417C>T (p.Ser2139=) c.512+13634C>T (n.512+13634C>T) c.3560C>T n.6280+13634C>T c.6288C>T (p.Ser2096=) c.5778C>T (p.Ser1926=) c.4218C>T (p.Ser1406=) c.4209C>T (p.Ser1403=) n.6266+13634C>T | gnomAD v4 |
2 | g.15218788G>C | CA424866904 | NBAS | c.4403C>G c.4426+13634C>G c.928C>G c.2273C>G c.6417C>G (p.Ser2139=) c.512+13634C>G (n.512+13634C>G) c.3560C>G n.6280+13634C>G c.6288C>G (p.Ser2096=) c.5778C>G (p.Ser1926=) c.4218C>G (p.Ser1406=) c.4209C>G (p.Ser1403=) n.6266+13634C>G | |
2 | g.15218788G>T | CA424866903 | NBAS | c.4403C>A c.4426+13634C>A c.928C>A c.2273C>A c.6417C>A (p.Ser2139=) c.512+13634C>A (n.512+13634C>A) c.3560C>A n.6280+13634C>A c.6288C>A (p.Ser2096=) c.5778C>A (p.Ser1926=) c.4218C>A (p.Ser1406=) c.4209C>A (p.Ser1403=) n.6266+13634C>A | |
2 | g.15218789G>A | CA1535019 | NBAS | c.4402C>T c.4426+13633C>T c.927C>T c.2272C>T c.6416C>T (p.Ser2139Phe) c.512+13633C>T (n.512+13633C>T) c.3559C>T n.6280+13633C>T c.6287C>T (p.Ser2096Phe) c.5777C>T (p.Ser1926Phe) c.4217C>T (p.Ser1406Phe) c.4208C>T (p.Ser1403Phe) n.6266+13633C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218789G>C | CA345883764 | NBAS | c.4402C>G c.4426+13633C>G c.927C>G c.2272C>G c.6416C>G (p.Ser2139Cys) c.512+13633C>G (n.512+13633C>G) c.3559C>G n.6280+13633C>G c.6287C>G (p.Ser2096Cys) c.5777C>G (p.Ser1926Cys) c.4217C>G (p.Ser1406Cys) c.4208C>G (p.Ser1403Cys) n.6266+13633C>G | |
2 | g.15218789G= | CA2490796179 | NBAS | c.4402C= c.4426+13633C= c.927C= c.2272C= c.6416C= (p.Ser2139=) c.512+13633C= (n.512+13633C=) c.3559C= n.6280+13633C= c.6287C= (p.Ser2096=) c.5777C= (p.Ser1926=) c.4217C= (p.Ser1406=) c.4208C= (p.Ser1403=) n.6266+13633C= | |
2 | g.15218789G>T | CA345883762 | NBAS | c.4402C>A c.4426+13633C>A c.927C>A c.2272C>A c.6416C>A (p.Ser2139Tyr) c.512+13633C>A (n.512+13633C>A) c.3559C>A n.6280+13633C>A c.6287C>A (p.Ser2096Tyr) c.5777C>A (p.Ser1926Tyr) c.4217C>A (p.Ser1406Tyr) c.4208C>A (p.Ser1403Tyr) n.6266+13633C>A | |
2 | g.15218790A>C | CA345883772 | NBAS | c.4401T>G c.4426+13632T>G c.926T>G c.2271T>G c.6415T>G (p.Ser2139Ala) c.512+13632T>G (n.512+13632T>G) c.3558T>G n.6280+13632T>G c.6286T>G (p.Ser2096Ala) c.5776T>G (p.Ser1926Ala) c.4216T>G (p.Ser1406Ala) c.4207T>G (p.Ser1403Ala) n.6266+13632T>G | gnomAD v4 |
2 | g.15218790A>G | CA345883774 | NBAS | c.4401T>C c.4426+13632T>C c.926T>C c.2271T>C c.6415T>C (p.Ser2139Pro) c.512+13632T>C (n.512+13632T>C) c.3558T>C n.6280+13632T>C c.6286T>C (p.Ser2096Pro) c.5776T>C (p.Ser1926Pro) c.4216T>C (p.Ser1406Pro) c.4207T>C (p.Ser1403Pro) n.6266+13632T>C | |
2 | g.15218790A>T | CA345883775 | NBAS | c.4401T>A c.4426+13632T>A c.926T>A c.2271T>A c.6415T>A (p.Ser2139Thr) c.512+13632T>A (n.512+13632T>A) c.3558T>A n.6280+13632T>A c.6286T>A (p.Ser2096Thr) c.5776T>A (p.Ser1926Thr) c.4216T>A (p.Ser1406Thr) c.4207T>A (p.Ser1403Thr) n.6266+13632T>A | |
2 | g.15218791G>A | CA424866905 | NBAS | c.4400C>T c.4426+13631C>T c.925C>T c.2270C>T c.6414C>T (p.Ala2138=) c.512+13631C>T (n.512+13631C>T) c.3557C>T n.6280+13631C>T c.6285C>T (p.Ala2095=) c.5775C>T (p.Ala1925=) c.4215C>T (p.Ala1405=) c.4206C>T (p.Ala1402=) n.6266+13631C>T | ClinVar dbSNP gnomAD v4 |
2 | g.15218791G>C | CA424866906 | NBAS | c.4400C>G c.4426+13631C>G c.925C>G c.2270C>G c.6414C>G (p.Ala2138=) c.512+13631C>G (n.512+13631C>G) c.3557C>G n.6280+13631C>G c.6285C>G (p.Ala2095=) c.5775C>G (p.Ala1925=) c.4215C>G (p.Ala1405=) c.4206C>G (p.Ala1402=) n.6266+13631C>G | |
2 | g.15218791G= | CA2490796180 | NBAS | c.4400C= c.4426+13631C= c.925C= c.2270C= c.6414C= (p.Ala2138=) c.512+13631C= (n.512+13631C=) c.3557C= n.6280+13631C= c.6285C= (p.Ala2095=) c.5775C= (p.Ala1925=) c.4215C= (p.Ala1405=) c.4206C= (p.Ala1402=) n.6266+13631C= | |
2 | g.15218791G>T | CA424866907 | NBAS | c.4400C>A c.4426+13631C>A c.925C>A c.2270C>A c.6414C>A (p.Ala2138=) c.512+13631C>A (n.512+13631C>A) c.3557C>A n.6280+13631C>A c.6285C>A (p.Ala2095=) c.5775C>A (p.Ala1925=) c.4215C>A (p.Ala1405=) c.4206C>A (p.Ala1402=) n.6266+13631C>A | |
2 | g.15218792G>A | CA345883776 | NBAS | c.4399C>T c.4426+13630C>T c.924C>T c.2269C>T c.6413C>T (p.Ala2138Val) c.512+13630C>T (n.512+13630C>T) c.3556C>T n.6280+13630C>T c.6284C>T (p.Ala2095Val) c.5774C>T (p.Ala1925Val) c.4214C>T (p.Ala1405Val) c.4205C>T (p.Ala1402Val) n.6266+13630C>T | |
2 | g.15218792G>C | CA345883777 | NBAS | c.4399C>G c.4426+13630C>G c.924C>G c.2269C>G c.6413C>G (p.Ala2138Gly) c.512+13630C>G (n.512+13630C>G) c.3556C>G n.6280+13630C>G c.6284C>G (p.Ala2095Gly) c.5774C>G (p.Ala1925Gly) c.4214C>G (p.Ala1405Gly) c.4205C>G (p.Ala1402Gly) n.6266+13630C>G | |
2 | g.15218792G>T | CA345883778 | NBAS | c.4399C>A c.4426+13630C>A c.924C>A c.2269C>A c.6413C>A (p.Ala2138Asp) c.512+13630C>A (n.512+13630C>A) c.3556C>A n.6280+13630C>A c.6284C>A (p.Ala2095Asp) c.5774C>A (p.Ala1925Asp) c.4214C>A (p.Ala1405Asp) c.4205C>A (p.Ala1402Asp) n.6266+13630C>A | gnomAD v4 COSMIC |
2 | g.15218793C>A | CA345883779 | NBAS | c.4398G>T c.4426+13629G>T c.923G>T c.2268G>T c.6412G>T (p.Ala2138Ser) c.512+13629G>T (n.512+13629G>T) c.3555G>T n.6280+13629G>T c.6283G>T (p.Ala2095Ser) c.5773G>T (p.Ala1925Ser) c.4213G>T (p.Ala1405Ser) c.4204G>T (p.Ala1402Ser) n.6266+13629G>T | |
2 | g.15218793C>G | CA345883780 | NBAS | c.4398G>C c.4426+13629G>C c.923G>C c.2268G>C c.6412G>C (p.Ala2138Pro) c.512+13629G>C (n.512+13629G>C) c.3555G>C n.6280+13629G>C c.6283G>C (p.Ala2095Pro) c.5773G>C (p.Ala1925Pro) c.4213G>C (p.Ala1405Pro) c.4204G>C (p.Ala1402Pro) n.6266+13629G>C | |
2 | g.15218793C>T | CA345883781 | NBAS | c.4398G>A c.4426+13629G>A c.923G>A c.2268G>A c.6412G>A (p.Ala2138Thr) c.512+13629G>A (n.512+13629G>A) c.3555G>A n.6280+13629G>A c.6283G>A (p.Ala2095Thr) c.5773G>A (p.Ala1925Thr) c.4213G>A (p.Ala1405Thr) c.4204G>A (p.Ala1402Thr) n.6266+13629G>A | |
2 | g.15218794T>A | CA345883782 | NBAS | c.4397A>T c.4426+13628A>T c.922A>T c.2267A>T c.6411A>T (p.Lys2137Asn) c.512+13628A>T (n.512+13628A>T) c.3554A>T n.6280+13628A>T c.6282A>T (p.Lys2094Asn) c.5772A>T (p.Lys1924Asn) c.4212A>T (p.Lys1404Asn) c.4203A>T (p.Lys1401Asn) n.6266+13628A>T | |
2 | g.15218794T>C | CA424866908 | NBAS | c.4397A>G c.4426+13628A>G c.922A>G c.2267A>G c.6411A>G (p.Lys2137=) c.512+13628A>G (n.512+13628A>G) c.3554A>G n.6280+13628A>G c.6282A>G (p.Lys2094=) c.5772A>G (p.Lys1924=) c.4212A>G (p.Lys1404=) c.4203A>G (p.Lys1401=) n.6266+13628A>G | |
2 | g.15218794T>G | CA345883783 | NBAS | c.4397A>C c.4426+13628A>C c.922A>C c.2267A>C c.6411A>C (p.Lys2137Asn) c.512+13628A>C (n.512+13628A>C) c.3554A>C n.6280+13628A>C c.6282A>C (p.Lys2094Asn) c.5772A>C (p.Lys1924Asn) c.4212A>C (p.Lys1404Asn) c.4203A>C (p.Lys1401Asn) n.6266+13628A>C | |
2 | g.15218795T>A | CA345883794 | NBAS | c.4396A>T c.4426+13627A>T c.921A>T c.2266A>T c.6410A>T (p.Lys2137Ile) c.512+13627A>T (n.512+13627A>T) c.3553A>T n.6280+13627A>T c.6281A>T (p.Lys2094Ile) c.5771A>T (p.Lys1924Ile) c.4211A>T (p.Lys1404Ile) c.4202A>T (p.Lys1401Ile) n.6266+13627A>T | |
2 | g.15218795T>C | CA345883796 | NBAS | c.4396A>G c.4426+13627A>G c.921A>G c.2266A>G c.6410A>G (p.Lys2137Arg) c.512+13627A>G (n.512+13627A>G) c.3553A>G n.6280+13627A>G c.6281A>G (p.Lys2094Arg) c.5771A>G (p.Lys1924Arg) c.4211A>G (p.Lys1404Arg) c.4202A>G (p.Lys1401Arg) n.6266+13627A>G | |
2 | g.15218795T>G | CA345883791 | NBAS | c.4396A>C c.4426+13627A>C c.921A>C c.2266A>C c.6410A>C (p.Lys2137Thr) c.512+13627A>C (n.512+13627A>C) c.3553A>C n.6280+13627A>C c.6281A>C (p.Lys2094Thr) c.5771A>C (p.Lys1924Thr) c.4211A>C (p.Lys1404Thr) c.4202A>C (p.Lys1401Thr) n.6266+13627A>C | |
2 | g.15218796T>A | CA345883799 | NBAS | c.4395A>T c.4426+13626A>T c.920A>T c.2265A>T c.6409A>T (p.Lys2137Ter) c.512+13626A>T (n.512+13626A>T) c.3552A>T n.6280+13626A>T c.6280A>T (p.Lys2094Ter) c.5770A>T (p.Lys1924Ter) c.4210A>T (p.Lys1404Ter) c.4201A>T (p.Lys1401Ter) n.6266+13626A>T | |
2 | g.15218796T>C | CA345883800 | NBAS | c.4395A>G c.4426+13626A>G c.920A>G c.2265A>G c.6409A>G (p.Lys2137Glu) c.512+13626A>G (n.512+13626A>G) c.3552A>G n.6280+13626A>G c.6280A>G (p.Lys2094Glu) c.5770A>G (p.Lys1924Glu) c.4210A>G (p.Lys1404Glu) c.4201A>G (p.Lys1401Glu) n.6266+13626A>G | |
2 | g.15218796T>G | CA345883801 | NBAS | c.4395A>C c.4426+13626A>C c.920A>C c.2265A>C c.6409A>C (p.Lys2137Gln) c.512+13626A>C (n.512+13626A>C) c.3552A>C n.6280+13626A>C c.6280A>C (p.Lys2094Gln) c.5770A>C (p.Lys1924Gln) c.4210A>C (p.Lys1404Gln) c.4201A>C (p.Lys1401Gln) n.6266+13626A>C | |
2 | g.15218797G>A | CA424866909 | NBAS | c.4394C>T c.4426+13625C>T c.919C>T c.2264C>T c.6408C>T (p.Leu2136=) c.512+13625C>T (n.512+13625C>T) c.3551C>T n.6280+13625C>T c.6279C>T (p.Leu2093=) c.5769C>T (p.Leu1923=) c.4209C>T (p.Leu1403=) c.4200C>T (p.Leu1400=) n.6266+13625C>T | gnomAD v4 |
2 | g.15218797G>C | CA424866910 | NBAS | c.4394C>G c.4426+13625C>G c.919C>G c.2264C>G c.6408C>G (p.Leu2136=) c.512+13625C>G (n.512+13625C>G) c.3551C>G n.6280+13625C>G c.6279C>G (p.Leu2093=) c.5769C>G (p.Leu1923=) c.4209C>G (p.Leu1403=) c.4200C>G (p.Leu1400=) n.6266+13625C>G | |
2 | g.15218797G>T | CA424866911 | NBAS | c.4394C>A c.4426+13625C>A c.919C>A c.2264C>A c.6408C>A (p.Leu2136=) c.512+13625C>A (n.512+13625C>A) c.3551C>A n.6280+13625C>A c.6279C>A (p.Leu2093=) c.5769C>A (p.Leu1923=) c.4209C>A (p.Leu1403=) c.4200C>A (p.Leu1400=) n.6266+13625C>A | |
2 | g.15218798A>C | CA345883802 | NBAS | c.4393T>G c.4426+13624T>G c.918T>G c.2263T>G c.6407T>G (p.Leu2136Arg) c.512+13624T>G (n.512+13624T>G) c.3550T>G n.6280+13624T>G c.6278T>G (p.Leu2093Arg) c.5768T>G (p.Leu1923Arg) c.4208T>G (p.Leu1403Arg) c.4199T>G (p.Leu1400Arg) n.6266+13624T>G | |
2 | g.15218798A>G | CA345883803 | NBAS | c.4393T>C c.4426+13624T>C c.918T>C c.2263T>C c.6407T>C (p.Leu2136Pro) c.512+13624T>C (n.512+13624T>C) c.3550T>C n.6280+13624T>C c.6278T>C (p.Leu2093Pro) c.5768T>C (p.Leu1923Pro) c.4208T>C (p.Leu1403Pro) c.4199T>C (p.Leu1400Pro) n.6266+13624T>C | |
2 | g.15218798A>T | CA345883804 | NBAS | c.4393T>A c.4426+13624T>A c.918T>A c.2263T>A c.6407T>A (p.Leu2136His) c.512+13624T>A (n.512+13624T>A) c.3550T>A n.6280+13624T>A c.6278T>A (p.Leu2093His) c.5768T>A (p.Leu1923His) c.4208T>A (p.Leu1403His) c.4199T>A (p.Leu1400His) n.6266+13624T>A | |
2 | g.15218799G>A | CA345883805 | NBAS | c.4392C>T c.4426+13623C>T c.917C>T c.2262C>T c.6406C>T (p.Leu2136Phe) c.512+13623C>T (n.512+13623C>T) c.3549C>T n.6280+13623C>T c.6277C>T (p.Leu2093Phe) c.5767C>T (p.Leu1923Phe) c.4207C>T (p.Leu1403Phe) c.4198C>T (p.Leu1400Phe) n.6266+13623C>T | |
2 | g.15218799G>C | CA345883807 | NBAS | c.4392C>G c.4426+13623C>G c.917C>G c.2262C>G c.6406C>G (p.Leu2136Val) c.512+13623C>G (n.512+13623C>G) c.3549C>G n.6280+13623C>G c.6277C>G (p.Leu2093Val) c.5767C>G (p.Leu1923Val) c.4207C>G (p.Leu1403Val) c.4198C>G (p.Leu1400Val) n.6266+13623C>G | gnomAD v4 |
2 | g.15218799G>T | CA345883806 | NBAS | c.4392C>A c.4426+13623C>A c.917C>A c.2262C>A c.6406C>A (p.Leu2136Ile) c.512+13623C>A (n.512+13623C>A) c.3549C>A n.6280+13623C>A c.6277C>A (p.Leu2093Ile) c.5767C>A (p.Leu1923Ile) c.4207C>A (p.Leu1403Ile) c.4198C>A (p.Leu1400Ile) n.6266+13623C>A | |
2 | g.15218800A>C | CA345883810 | NBAS | c.4391T>G c.4426+13622T>G c.916T>G c.2261T>G c.6405T>G (p.Ile2135Met) c.512+13622T>G (n.512+13622T>G) c.3548T>G n.6280+13622T>G c.6276T>G (p.Ile2092Met) c.5766T>G (p.Ile1922Met) c.4206T>G (p.Ile1402Met) c.4197T>G (p.Ile1399Met) n.6266+13622T>G | |
2 | g.15218800A>G | CA424866913 | NBAS | c.4391T>C c.4426+13622T>C c.916T>C c.2261T>C c.6405T>C (p.Ile2135=) c.512+13622T>C (n.512+13622T>C) c.3548T>C n.6280+13622T>C c.6276T>C (p.Ile2092=) c.5766T>C (p.Ile1922=) c.4206T>C (p.Ile1402=) c.4197T>C (p.Ile1399=) n.6266+13622T>C | |
2 | g.15218800A>T | CA424866912 | NBAS | c.4391T>A c.4426+13622T>A c.916T>A c.2261T>A c.6405T>A (p.Ile2135=) c.512+13622T>A (n.512+13622T>A) c.3548T>A n.6280+13622T>A c.6276T>A (p.Ile2092=) c.5766T>A (p.Ile1922=) c.4206T>A (p.Ile1402=) c.4197T>A (p.Ile1399=) n.6266+13622T>A | |
2 | g.15218801A>C | CA345883813 | NBAS | c.4390T>G c.4426+13621T>G c.915T>G c.2260T>G c.6404T>G (p.Ile2135Ser) c.512+13621T>G (n.512+13621T>G) c.3547T>G n.6280+13621T>G c.6275T>G (p.Ile2092Ser) c.5765T>G (p.Ile1922Ser) c.4205T>G (p.Ile1402Ser) c.4196T>G (p.Ile1399Ser) n.6266+13621T>G | |
2 | g.15218801A>G | CA345883817 | NBAS | c.4390T>C c.4426+13621T>C c.915T>C c.2260T>C c.6404T>C (p.Ile2135Thr) c.512+13621T>C (n.512+13621T>C) c.3547T>C n.6280+13621T>C c.6275T>C (p.Ile2092Thr) c.5765T>C (p.Ile1922Thr) c.4205T>C (p.Ile1402Thr) c.4196T>C (p.Ile1399Thr) n.6266+13621T>C | |
2 | g.15218801A>T | CA345883823 | NBAS | c.4390T>A c.4426+13621T>A c.915T>A c.2260T>A c.6404T>A (p.Ile2135Asn) c.512+13621T>A (n.512+13621T>A) c.3547T>A n.6280+13621T>A c.6275T>A (p.Ile2092Asn) c.5765T>A (p.Ile1922Asn) c.4205T>A (p.Ile1402Asn) c.4196T>A (p.Ile1399Asn) n.6266+13621T>A | |
2 | g.15218802T>A | CA345883828 | NBAS | c.4389A>T c.4426+13620A>T c.914A>T c.2259A>T c.6403A>T (p.Ile2135Phe) c.512+13620A>T (n.512+13620A>T) c.3546A>T n.6280+13620A>T c.6274A>T (p.Ile2092Phe) c.5764A>T (p.Ile1922Phe) c.4204A>T (p.Ile1402Phe) c.4195A>T (p.Ile1399Phe) n.6266+13620A>T | dbSNP gnomAD v2 |
2 | g.15218802T>C | CA345883836 | NBAS | c.4389A>G c.4426+13620A>G c.914A>G c.2259A>G c.6403A>G (p.Ile2135Val) c.512+13620A>G (n.512+13620A>G) c.3546A>G n.6280+13620A>G c.6274A>G (p.Ile2092Val) c.5764A>G (p.Ile1922Val) c.4204A>G (p.Ile1402Val) c.4195A>G (p.Ile1399Val) n.6266+13620A>G | dbSNP |
2 | g.15218802T>G | CA345883835 | NBAS | c.4389A>C c.4426+13620A>C c.914A>C c.2259A>C c.6403A>C (p.Ile2135Leu) c.512+13620A>C (n.512+13620A>C) c.3546A>C n.6280+13620A>C c.6274A>C (p.Ile2092Leu) c.5764A>C (p.Ile1922Leu) c.4204A>C (p.Ile1402Leu) c.4195A>C (p.Ile1399Leu) n.6266+13620A>C | |
2 | g.15218802T= | CA2490796181 | NBAS | c.4389A= c.4426+13620A= c.914A= c.2259A= c.6403A= (p.Ile2135=) c.512+13620A= (n.512+13620A=) c.3546A= n.6280+13620A= c.6274A= (p.Ile2092=) c.5764A= (p.Ile1922=) c.4204A= (p.Ile1402=) c.4195A= (p.Ile1399=) n.6266+13620A= | |
2 | g.15218803G>A | CA424866914 | NBAS | c.4388C>T c.4426+13619C>T c.913C>T c.2258C>T c.6402C>T (p.Ala2134=) c.512+13619C>T (n.512+13619C>T) c.3545C>T n.6280+13619C>T c.6273C>T (p.Ala2091=) c.5763C>T (p.Ala1921=) c.4203C>T (p.Ala1401=) c.4194C>T (p.Ala1398=) n.6266+13619C>T | |
2 | g.15218803G>C | CA424866915 | NBAS | c.4388C>G c.4426+13619C>G c.913C>G c.2258C>G c.6402C>G (p.Ala2134=) c.512+13619C>G (n.512+13619C>G) c.3545C>G n.6280+13619C>G c.6273C>G (p.Ala2091=) c.5763C>G (p.Ala1921=) c.4203C>G (p.Ala1401=) c.4194C>G (p.Ala1398=) n.6266+13619C>G | |
2 | g.15218803G>T | CA424866916 | NBAS | c.4388C>A c.4426+13619C>A c.913C>A c.2258C>A c.6402C>A (p.Ala2134=) c.512+13619C>A (n.512+13619C>A) c.3545C>A n.6280+13619C>A c.6273C>A (p.Ala2091=) c.5763C>A (p.Ala1921=) c.4203C>A (p.Ala1401=) c.4194C>A (p.Ala1398=) n.6266+13619C>A | |
2 | g.15218804G>A | CA345883838 | NBAS | c.4387C>T c.4426+13618C>T c.912C>T c.2257C>T c.6401C>T (p.Ala2134Val) c.512+13618C>T (n.512+13618C>T) c.3544C>T n.6280+13618C>T c.6272C>T (p.Ala2091Val) c.5762C>T (p.Ala1921Val) c.4202C>T (p.Ala1401Val) c.4193C>T (p.Ala1398Val) n.6266+13618C>T | COSMIC |
2 | g.15218804G>C | CA345883839 | NBAS | c.4387C>G c.4426+13618C>G c.912C>G c.2257C>G c.6401C>G (p.Ala2134Gly) c.512+13618C>G (n.512+13618C>G) c.3544C>G n.6280+13618C>G c.6272C>G (p.Ala2091Gly) c.5762C>G (p.Ala1921Gly) c.4202C>G (p.Ala1401Gly) c.4193C>G (p.Ala1398Gly) n.6266+13618C>G | |
2 | g.15218804G>T | CA345883840 | NBAS | c.4387C>A c.4426+13618C>A c.912C>A c.2257C>A c.6401C>A (p.Ala2134Asp) c.512+13618C>A (n.512+13618C>A) c.3544C>A n.6280+13618C>A c.6272C>A (p.Ala2091Asp) c.5762C>A (p.Ala1921Asp) c.4202C>A (p.Ala1401Asp) c.4193C>A (p.Ala1398Asp) n.6266+13618C>A | |
2 | g.15218805C>A | CA345883841 | NBAS | c.4386G>T c.4426+13617G>T c.911G>T c.2256G>T c.6400G>T (p.Ala2134Ser) c.512+13617G>T (n.512+13617G>T) c.3543G>T n.6280+13617G>T c.6271G>T (p.Ala2091Ser) c.5761G>T (p.Ala1921Ser) c.4201G>T (p.Ala1401Ser) c.4192G>T (p.Ala1398Ser) n.6266+13617G>T | |
2 | g.15218805C= | CA2490796182 | NBAS | c.4386G= c.4426+13617G= c.911G= c.2256G= c.6400G= (p.Ala2134=) c.512+13617G= (n.512+13617G=) c.3543G= n.6280+13617G= c.6271G= (p.Ala2091=) c.5761G= (p.Ala1921=) c.4201G= (p.Ala1401=) c.4192G= (p.Ala1398=) n.6266+13617G= | |
2 | g.15218805C>G | CA345883842 | NBAS | c.4386G>C c.4426+13617G>C c.911G>C c.2256G>C c.6400G>C (p.Ala2134Pro) c.512+13617G>C (n.512+13617G>C) c.3543G>C n.6280+13617G>C c.6271G>C (p.Ala2091Pro) c.5761G>C (p.Ala1921Pro) c.4201G>C (p.Ala1401Pro) c.4192G>C (p.Ala1398Pro) n.6266+13617G>C | |
2 | g.15218805C>T | CA345883843 | NBAS | c.4386G>A c.4426+13617G>A c.911G>A c.2256G>A c.6400G>A (p.Ala2134Thr) c.512+13617G>A (n.512+13617G>A) c.3543G>A n.6280+13617G>A c.6271G>A (p.Ala2091Thr) c.5761G>A (p.Ala1921Thr) c.4201G>A (p.Ala1401Thr) c.4192G>A (p.Ala1398Thr) n.6266+13617G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15218806T>A | CA345883844 | NBAS | c.4385A>T c.4426+13616A>T c.910A>T c.2255A>T c.6399A>T (p.Glu2133Asp) c.512+13616A>T (n.512+13616A>T) c.3542A>T n.6280+13616A>T c.6270A>T (p.Glu2090Asp) c.5760A>T (p.Glu1920Asp) c.4200A>T (p.Glu1400Asp) c.4191A>T (p.Glu1397Asp) n.6266+13616A>T | |
2 | g.15218806T>C | CA424866917 | NBAS | c.4385A>G c.4426+13616A>G c.910A>G c.2255A>G c.6399A>G (p.Glu2133=) c.512+13616A>G (n.512+13616A>G) c.3542A>G n.6280+13616A>G c.6270A>G (p.Glu2090=) c.5760A>G (p.Glu1920=) c.4200A>G (p.Glu1400=) c.4191A>G (p.Glu1397=) n.6266+13616A>G | |
2 | g.15218806T>G | CA345883845 | NBAS | c.4385A>C c.4426+13616A>C c.910A>C c.2255A>C c.6399A>C (p.Glu2133Asp) c.512+13616A>C (n.512+13616A>C) c.3542A>C n.6280+13616A>C c.6270A>C (p.Glu2090Asp) c.5760A>C (p.Glu1920Asp) c.4200A>C (p.Glu1400Asp) c.4191A>C (p.Glu1397Asp) n.6266+13616A>C | |
2 | g.15218807T>A | CA345883848 | NBAS | c.4384A>T c.4426+13615A>T c.909A>T c.2254A>T c.6398A>T (p.Glu2133Val) c.512+13615A>T (n.512+13615A>T) c.3541A>T n.6280+13615A>T c.6269A>T (p.Glu2090Val) c.5759A>T (p.Glu1920Val) c.4199A>T (p.Glu1400Val) c.4190A>T (p.Glu1397Val) n.6266+13615A>T | |
2 | g.15218807T>C | CA345883859 | NBAS | c.4384A>G c.4426+13615A>G c.909A>G c.2254A>G c.6398A>G (p.Glu2133Gly) c.512+13615A>G (n.512+13615A>G) c.3541A>G n.6280+13615A>G c.6269A>G (p.Glu2090Gly) c.5759A>G (p.Glu1920Gly) c.4199A>G (p.Glu1400Gly) c.4190A>G (p.Glu1397Gly) n.6266+13615A>G | |
2 | g.15218807T>G | CA42584312 | NBAS | c.4384A>C c.4426+13615A>C c.909A>C c.2254A>C c.6398A>C (p.Glu2133Ala) c.512+13615A>C (n.512+13615A>C) c.3541A>C n.6280+13615A>C c.6269A>C (p.Glu2090Ala) c.5759A>C (p.Glu1920Ala) c.4199A>C (p.Glu1400Ala) c.4190A>C (p.Glu1397Ala) n.6266+13615A>C | dbSNP |
2 | g.15218807T= | CA2490796183 | NBAS | c.4384A= c.4426+13615A= c.909A= c.2254A= c.6398A= (p.Glu2133=) c.512+13615A= (n.512+13615A=) c.3541A= n.6280+13615A= c.6269A= (p.Glu2090=) c.5759A= (p.Glu1920=) c.4199A= (p.Glu1400=) c.4190A= (p.Glu1397=) n.6266+13615A= | |
2 | g.15218808C>A | CA345883862 | NBAS | c.4383G>T c.4426+13614G>T c.908G>T c.2253G>T c.6397G>T (p.Glu2133Ter) c.512+13614G>T (n.512+13614G>T) c.3540G>T n.6280+13614G>T c.6268G>T (p.Glu2090Ter) c.5758G>T (p.Glu1920Ter) c.4198G>T (p.Glu1400Ter) c.4189G>T (p.Glu1397Ter) n.6266+13614G>T | |
2 | g.15218808C= | CA2490796184 | NBAS | c.4383G= c.4426+13614G= c.908G= c.2253G= c.6397G= (p.Glu2133=) c.512+13614G= (n.512+13614G=) c.3540G= n.6280+13614G= c.6268G= (p.Glu2090=) c.5758G= (p.Glu1920=) c.4198G= (p.Glu1400=) c.4189G= (p.Glu1397=) n.6266+13614G= | |
2 | g.15218808C>G | CA345883864 | NBAS | c.4383G>C c.4426+13614G>C c.908G>C c.2253G>C c.6397G>C (p.Glu2133Gln) c.512+13614G>C (n.512+13614G>C) c.3540G>C n.6280+13614G>C c.6268G>C (p.Glu2090Gln) c.5758G>C (p.Glu1920Gln) c.4198G>C (p.Glu1400Gln) c.4189G>C (p.Glu1397Gln) n.6266+13614G>C | |
2 | g.15218808C>T | CA42584315 | NBAS | c.4383G>A c.4426+13614G>A c.908G>A c.2253G>A c.6397G>A (p.Glu2133Lys) c.512+13614G>A (n.512+13614G>A) c.3540G>A n.6280+13614G>A c.6268G>A (p.Glu2090Lys) c.5758G>A (p.Glu1920Lys) c.4198G>A (p.Glu1400Lys) c.4189G>A (p.Glu1397Lys) n.6266+13614G>A | dbSNP |
2 | g.15218809A>C | CA424866920 | NBAS | c.4382T>G c.4426+13613T>G c.907T>G c.2252T>G c.6396T>G (p.Thr2132=) c.512+13613T>G (n.512+13613T>G) c.3539T>G n.6280+13613T>G c.6267T>G (p.Thr2089=) c.5757T>G (p.Thr1919=) c.4197T>G (p.Thr1399=) c.4188T>G (p.Thr1396=) n.6266+13613T>G | COSMIC |
2 | g.15218809A>G | CA424866919 | NBAS | c.4382T>C c.4426+13613T>C c.907T>C c.2252T>C c.6396T>C (p.Thr2132=) c.512+13613T>C (n.512+13613T>C) c.3539T>C n.6280+13613T>C c.6267T>C (p.Thr2089=) c.5757T>C (p.Thr1919=) c.4197T>C (p.Thr1399=) c.4188T>C (p.Thr1396=) n.6266+13613T>C | gnomAD v4 |
2 | g.15218809A>T | CA424866918 | NBAS | c.4382T>A c.4426+13613T>A c.907T>A c.2252T>A c.6396T>A (p.Thr2132=) c.512+13613T>A (n.512+13613T>A) c.3539T>A n.6280+13613T>A c.6267T>A (p.Thr2089=) c.5757T>A (p.Thr1919=) c.4197T>A (p.Thr1399=) c.4188T>A (p.Thr1396=) n.6266+13613T>A | |
2 | g.15218810G>A | CA345883881 | NBAS | c.4381C>T c.4426+13612C>T c.906C>T c.2251C>T c.6395C>T (p.Thr2132Ile) c.512+13612C>T (n.512+13612C>T) c.3538C>T n.6280+13612C>T c.6266C>T (p.Thr2089Ile) c.5756C>T (p.Thr1919Ile) c.4196C>T (p.Thr1399Ile) c.4187C>T (p.Thr1396Ile) n.6266+13612C>T | |
2 | g.15218810G>C | CA345883865 | NBAS | c.4381C>G c.4426+13612C>G c.906C>G c.2251C>G c.6395C>G (p.Thr2132Ser) c.512+13612C>G (n.512+13612C>G) c.3538C>G n.6280+13612C>G c.6266C>G (p.Thr2089Ser) c.5756C>G (p.Thr1919Ser) c.4196C>G (p.Thr1399Ser) c.4187C>G (p.Thr1396Ser) n.6266+13612C>G | |
2 | g.15218810G>T | CA345883879 | NBAS | c.4381C>A c.4426+13612C>A c.906C>A c.2251C>A c.6395C>A (p.Thr2132Asn) c.512+13612C>A (n.512+13612C>A) c.3538C>A n.6280+13612C>A c.6266C>A (p.Thr2089Asn) c.5756C>A (p.Thr1919Asn) c.4196C>A (p.Thr1399Asn) c.4187C>A (p.Thr1396Asn) n.6266+13612C>A | |
2 | g.15218811T>A | CA345883882 | NBAS | c.4380A>T c.4426+13611A>T c.905A>T c.2250A>T c.6394A>T (p.Thr2132Ser) c.512+13611A>T (n.512+13611A>T) c.3537A>T n.6280+13611A>T c.6265A>T (p.Thr2089Ser) c.5755A>T (p.Thr1919Ser) c.4195A>T (p.Thr1399Ser) c.4186A>T (p.Thr1396Ser) n.6266+13611A>T | dbSNP |
2 | g.15218811T>C | CA345883883 | NBAS | c.4380A>G c.4426+13611A>G c.905A>G c.2250A>G c.6394A>G (p.Thr2132Ala) c.512+13611A>G (n.512+13611A>G) c.3537A>G n.6280+13611A>G c.6265A>G (p.Thr2089Ala) c.5755A>G (p.Thr1919Ala) c.4195A>G (p.Thr1399Ala) c.4186A>G (p.Thr1396Ala) n.6266+13611A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218811T>G | CA345883885 | NBAS | c.4380A>C c.4426+13611A>C c.905A>C c.2250A>C c.6394A>C (p.Thr2132Pro) c.512+13611A>C (n.512+13611A>C) c.3537A>C n.6280+13611A>C c.6265A>C (p.Thr2089Pro) c.5755A>C (p.Thr1919Pro) c.4195A>C (p.Thr1399Pro) c.4186A>C (p.Thr1396Pro) n.6266+13611A>C | |
2 | g.15218811T= | CA2490796185 | NBAS | c.4380A= c.4426+13611A= c.905A= c.2250A= c.6394A= (p.Thr2132=) c.512+13611A= (n.512+13611A=) c.3537A= n.6280+13611A= c.6265A= (p.Thr2089=) c.5755A= (p.Thr1919=) c.4195A= (p.Thr1399=) c.4186A= (p.Thr1396=) n.6266+13611A= | |
2 | g.15218812T>A | CA345883886 | NBAS | c.4379A>T c.4426+13610A>T c.904A>T c.2249A>T c.6393A>T (p.Arg2131Ser) c.512+13610A>T (n.512+13610A>T) c.3536A>T n.6280+13610A>T c.6264A>T (p.Arg2088Ser) c.5754A>T (p.Arg1918Ser) c.4194A>T (p.Arg1398Ser) c.4185A>T (p.Arg1395Ser) n.6266+13610A>T | |
2 | g.15218812T>C | CA424866921 | NBAS | c.4379A>G c.4426+13610A>G c.904A>G c.2249A>G c.6393A>G (p.Arg2131=) c.512+13610A>G (n.512+13610A>G) c.3536A>G n.6280+13610A>G c.6264A>G (p.Arg2088=) c.5754A>G (p.Arg1918=) c.4194A>G (p.Arg1398=) c.4185A>G (p.Arg1395=) n.6266+13610A>G | ClinVar |
2 | g.15218812T>G | CA345883888 | NBAS | c.4379A>C c.4426+13610A>C c.904A>C c.2249A>C c.6393A>C (p.Arg2131Ser) c.512+13610A>C (n.512+13610A>C) c.3536A>C n.6280+13610A>C c.6264A>C (p.Arg2088Ser) c.5754A>C (p.Arg1918Ser) c.4194A>C (p.Arg1398Ser) c.4185A>C (p.Arg1395Ser) n.6266+13610A>C | |
2 | g.15218813C>A | CA345883890 | NBAS | c.4378G>T c.4426+13609G>T c.903G>T c.2248G>T c.6392G>T (p.Arg2131Ile) c.512+13609G>T (n.512+13609G>T) c.3535G>T n.6280+13609G>T c.6263G>T (p.Arg2088Ile) c.5753G>T (p.Arg1918Ile) c.4193G>T (p.Arg1398Ile) c.4184G>T (p.Arg1395Ile) n.6266+13609G>T | |
2 | g.15218813C>G | CA345883897 | NBAS | c.4378G>C c.4426+13609G>C c.903G>C c.2248G>C c.6392G>C (p.Arg2131Thr) c.512+13609G>C (n.512+13609G>C) c.3535G>C n.6280+13609G>C c.6263G>C (p.Arg2088Thr) c.5753G>C (p.Arg1918Thr) c.4193G>C (p.Arg1398Thr) c.4184G>C (p.Arg1395Thr) n.6266+13609G>C | |
2 | g.15218813C>T | CA345883892 | NBAS | c.4378G>A c.4426+13609G>A c.903G>A c.2248G>A c.6392G>A (p.Arg2131Lys) c.512+13609G>A (n.512+13609G>A) c.3535G>A n.6280+13609G>A c.6263G>A (p.Arg2088Lys) c.5753G>A (p.Arg1918Lys) c.4193G>A (p.Arg1398Lys) c.4184G>A (p.Arg1395Lys) n.6266+13609G>A | |
2 | g.15218814T>A | CA345883900 | NBAS | c.4377A>T c.4426+13608A>T c.902A>T c.2247A>T c.6391A>T (p.Arg2131Ter) c.512+13608A>T (n.512+13608A>T) c.3534A>T n.6280+13608A>T c.6262A>T (p.Arg2088Ter) c.5752A>T (p.Arg1918Ter) c.4192A>T (p.Arg1398Ter) c.4183A>T (p.Arg1395Ter) n.6266+13608A>T | |
2 | g.15218814T>C | CA345883901 | NBAS | c.4377A>G c.4426+13608A>G c.902A>G c.2247A>G c.6391A>G (p.Arg2131Gly) c.512+13608A>G (n.512+13608A>G) c.3534A>G n.6280+13608A>G c.6262A>G (p.Arg2088Gly) c.5752A>G (p.Arg1918Gly) c.4192A>G (p.Arg1398Gly) c.4183A>G (p.Arg1395Gly) n.6266+13608A>G | dbSNP |
2 | g.15218814T>G | CA424866922 | NBAS | c.4377A>C c.4426+13608A>C c.902A>C c.2247A>C c.6391A>C (p.Arg2131=) c.512+13608A>C (n.512+13608A>C) c.3534A>C n.6280+13608A>C c.6262A>C (p.Arg2088=) c.5752A>C (p.Arg1918=) c.4192A>C (p.Arg1398=) c.4183A>C (p.Arg1395=) n.6266+13608A>C | dbSNP gnomAD v2 |
2 | g.15218814T= | CA2490796186 | NBAS | c.4377A= c.4426+13608A= c.902A= c.2247A= c.6391A= (p.Arg2131=) c.512+13608A= (n.512+13608A=) c.3534A= n.6280+13608A= c.6262A= (p.Arg2088=) c.5752A= (p.Arg1918=) c.4192A= (p.Arg1398=) c.4183A= (p.Arg1395=) n.6266+13608A= | |
2 | g.15218815A= | CA2490796187 | NBAS | c.4376T= c.4426+13607T= c.901T= c.2246T= c.6390T= (p.Phe2130=) c.512+13607T= (n.512+13607T=) c.3533T= n.6280+13607T= c.6261T= (p.Phe2087=) c.5751T= (p.Phe1917=) c.4191T= (p.Phe1397=) c.4182T= (p.Phe1394=) n.6266+13607T= | |
2 | g.15218815A>C | CA1535020 | NBAS | c.4376T>G c.4426+13607T>G c.901T>G c.2246T>G c.6390T>G (p.Phe2130Leu) c.512+13607T>G (n.512+13607T>G) c.3533T>G n.6280+13607T>G c.6261T>G (p.Phe2087Leu) c.5751T>G (p.Phe1917Leu) c.4191T>G (p.Phe1397Leu) c.4182T>G (p.Phe1394Leu) n.6266+13607T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218815A>G | CA424866923 | NBAS | c.4376T>C c.4426+13607T>C c.901T>C c.2246T>C c.6390T>C (p.Phe2130=) c.512+13607T>C (n.512+13607T>C) c.3533T>C n.6280+13607T>C c.6261T>C (p.Phe2087=) c.5751T>C (p.Phe1917=) c.4191T>C (p.Phe1397=) c.4182T>C (p.Phe1394=) n.6266+13607T>C | |
2 | g.15218815A>T | CA345883903 | NBAS | c.4376T>A c.4426+13607T>A c.901T>A c.2246T>A c.6390T>A (p.Phe2130Leu) c.512+13607T>A (n.512+13607T>A) c.3533T>A n.6280+13607T>A c.6261T>A (p.Phe2087Leu) c.5751T>A (p.Phe1917Leu) c.4191T>A (p.Phe1397Leu) c.4182T>A (p.Phe1394Leu) n.6266+13607T>A | gnomAD v4 |
2 | g.15218815_15218821delinsAAAGAAC | CA2490796188 | NBAS | c.4370_4376delinsGTTCTTT c.4426+13601_4426+13607delinsGTTCTTT c.895_901delinsGTTCTTT c.2240_2246delinsGTTCTTT c.6384_6390delinsGTTCTTT (p.Val2128=) c.512+13601_512+13607delinsGTTCTTT (n.512+13601_512+13607delinsGTTCTTT) c.3527_3533delinsGTTCTTT n.6280+13601_6280+13607delinsGTTCTTT c.6255_6261delinsGTTCTTT (p.Val2085=) c.5745_5751delinsGTTCTTT (p.Val1915=) c.4185_4191delinsGTTCTTT (p.Val1395=) c.4176_4182delinsGTTCTTT (p.Val1392=) n.6266+13601_6266+13607delinsGTTCTTT | |
2 | g.15218816A= | CA2490796190 | NBAS | c.4375T= c.4426+13606T= c.900T= c.2245T= c.6389T= (p.Phe2130=) c.512+13606T= (n.512+13606T=) c.3532T= n.6280+13606T= c.6260T= (p.Phe2087=) c.5750T= (p.Phe1917=) c.4190T= (p.Phe1397=) c.4181T= (p.Phe1394=) n.6266+13606T= | |
2 | g.15218816A>C | CA345883905 | NBAS | c.4375T>G c.4426+13606T>G c.900T>G c.2245T>G c.6389T>G (p.Phe2130Cys) c.512+13606T>G (n.512+13606T>G) c.3532T>G n.6280+13606T>G c.6260T>G (p.Phe2087Cys) c.5750T>G (p.Phe1917Cys) c.4190T>G (p.Phe1397Cys) c.4181T>G (p.Phe1394Cys) n.6266+13606T>G | dbSNP |
2 | g.15218816A>G | CA345883913 | NBAS | c.4375T>C c.4426+13606T>C c.900T>C c.2245T>C c.6389T>C (p.Phe2130Ser) c.512+13606T>C (n.512+13606T>C) c.3532T>C n.6280+13606T>C c.6260T>C (p.Phe2087Ser) c.5750T>C (p.Phe1917Ser) c.4190T>C (p.Phe1397Ser) c.4181T>C (p.Phe1394Ser) n.6266+13606T>C | |
2 | g.15218816A>T | CA345883910 | NBAS | c.4375T>A c.4426+13606T>A c.900T>A c.2245T>A c.6389T>A (p.Phe2130Tyr) c.512+13606T>A (n.512+13606T>A) c.3532T>A n.6280+13606T>A c.6260T>A (p.Phe2087Tyr) c.5750T>A (p.Phe1917Tyr) c.4190T>A (p.Phe1397Tyr) c.4181T>A (p.Phe1394Tyr) n.6266+13606T>A | |
2 | g.15218817_15218822del | CA2490796189 | NBAS | c.4370_4375del c.4426+13601_4426+13606del c.895_900del c.2240_2245del c.6384_6389del (p.Phe2129_Phe2130del) c.512+13601_512+13606del (n.512+13601_512+13606del) c.3527_3532del n.6280+13601_6280+13606del c.6255_6260del (p.Phe2086_Phe2087del) c.5745_5750del (p.Phe1916_Phe1917del) c.4185_4190del (p.Phe1396_Phe1397del) c.4176_4181del (p.Phe1393_Phe1394del) n.6266+13601_6266+13606del | dbSNP gnomAD v4 |
2 | g.15218817A>C | CA345883915 | NBAS | c.4374T>G c.4426+13605T>G c.899T>G c.2244T>G c.6388T>G (p.Phe2130Val) c.512+13605T>G (n.512+13605T>G) c.3531T>G n.6280+13605T>G c.6259T>G (p.Phe2087Val) c.5749T>G (p.Phe1917Val) c.4189T>G (p.Phe1397Val) c.4180T>G (p.Phe1394Val) n.6266+13605T>G | |
2 | g.15218817A>G | CA345883917 | NBAS | c.4374T>C c.4426+13605T>C c.899T>C c.2244T>C c.6388T>C (p.Phe2130Leu) c.512+13605T>C (n.512+13605T>C) c.3531T>C n.6280+13605T>C c.6259T>C (p.Phe2087Leu) c.5749T>C (p.Phe1917Leu) c.4189T>C (p.Phe1397Leu) c.4180T>C (p.Phe1394Leu) n.6266+13605T>C | gnomAD v4 |
2 | g.15218817A>T | CA345883918 | NBAS | c.4374T>A c.4426+13605T>A c.899T>A c.2244T>A c.6388T>A (p.Phe2130Ile) c.512+13605T>A (n.512+13605T>A) c.3531T>A n.6280+13605T>A c.6259T>A (p.Phe2087Ile) c.5749T>A (p.Phe1917Ile) c.4189T>A (p.Phe1397Ile) c.4180T>A (p.Phe1394Ile) n.6266+13605T>A | |
2 | g.15218818G>A | CA424866924 | NBAS | c.4373C>T c.4426+13604C>T c.898C>T c.2243C>T c.6387C>T (p.Phe2129=) c.512+13604C>T (n.512+13604C>T) c.3530C>T n.6280+13604C>T c.6258C>T (p.Phe2086=) c.5748C>T (p.Phe1916=) c.4188C>T (p.Phe1396=) c.4179C>T (p.Phe1393=) n.6266+13604C>T | |
2 | g.15218818G>C | CA345883920 | NBAS | c.4373C>G c.4426+13604C>G c.898C>G c.2243C>G c.6387C>G (p.Phe2129Leu) c.512+13604C>G (n.512+13604C>G) c.3530C>G n.6280+13604C>G c.6258C>G (p.Phe2086Leu) c.5748C>G (p.Phe1916Leu) c.4188C>G (p.Phe1396Leu) c.4179C>G (p.Phe1393Leu) n.6266+13604C>G | |
2 | g.15218818G>T | CA345883923 | NBAS | c.4373C>A c.4426+13604C>A c.898C>A c.2243C>A c.6387C>A (p.Phe2129Leu) c.512+13604C>A (n.512+13604C>A) c.3530C>A n.6280+13604C>A c.6258C>A (p.Phe2086Leu) c.5748C>A (p.Phe1916Leu) c.4188C>A (p.Phe1396Leu) c.4179C>A (p.Phe1393Leu) n.6266+13604C>A | |
2 | g.15218819A>C | CA345883928 | NBAS | c.4372T>G c.4426+13603T>G c.897T>G c.2242T>G c.6386T>G (p.Phe2129Cys) c.512+13603T>G (n.512+13603T>G) c.3529T>G n.6280+13603T>G c.6257T>G (p.Phe2086Cys) c.5747T>G (p.Phe1916Cys) c.4187T>G (p.Phe1396Cys) c.4178T>G (p.Phe1393Cys) n.6266+13603T>G | |
2 | g.15218819A>G | CA345883930 | NBAS | c.4372T>C c.4426+13603T>C c.897T>C c.2242T>C c.6386T>C (p.Phe2129Ser) c.512+13603T>C (n.512+13603T>C) c.3529T>C n.6280+13603T>C c.6257T>C (p.Phe2086Ser) c.5747T>C (p.Phe1916Ser) c.4187T>C (p.Phe1396Ser) c.4178T>C (p.Phe1393Ser) n.6266+13603T>C | |
2 | g.15218819A>T | CA345883936 | NBAS | c.4372T>A c.4426+13603T>A c.897T>A c.2242T>A c.6386T>A (p.Phe2129Tyr) c.512+13603T>A (n.512+13603T>A) c.3529T>A n.6280+13603T>A c.6257T>A (p.Phe2086Tyr) c.5747T>A (p.Phe1916Tyr) c.4187T>A (p.Phe1396Tyr) c.4178T>A (p.Phe1393Tyr) n.6266+13603T>A | |
2 | g.15218820A= | CA2490796191 | NBAS | c.4371T= c.4426+13602T= c.896T= c.2241T= c.6385T= (p.Phe2129=) c.512+13602T= (n.512+13602T=) c.3528T= n.6280+13602T= c.6256T= (p.Phe2086=) c.5746T= (p.Phe1916=) c.4186T= (p.Phe1396=) c.4177T= (p.Phe1393=) n.6266+13602T= | |
2 | g.15218820A>C | CA345883938 | NBAS | c.4371T>G c.4426+13602T>G c.896T>G c.2241T>G c.6385T>G (p.Phe2129Val) c.512+13602T>G (n.512+13602T>G) c.3528T>G n.6280+13602T>G c.6256T>G (p.Phe2086Val) c.5746T>G (p.Phe1916Val) c.4186T>G (p.Phe1396Val) c.4177T>G (p.Phe1393Val) n.6266+13602T>G | |
2 | g.15218820A>G | CA1535021 | NBAS | c.4371T>C c.4426+13602T>C c.896T>C c.2241T>C c.6385T>C (p.Phe2129Leu) c.512+13602T>C (n.512+13602T>C) c.3528T>C n.6280+13602T>C c.6256T>C (p.Phe2086Leu) c.5746T>C (p.Phe1916Leu) c.4186T>C (p.Phe1396Leu) c.4177T>C (p.Phe1393Leu) n.6266+13602T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15218820A>T | CA345883946 | NBAS | c.4371T>A c.4426+13602T>A c.896T>A c.2241T>A c.6385T>A (p.Phe2129Ile) c.512+13602T>A (n.512+13602T>A) c.3528T>A n.6280+13602T>A c.6256T>A (p.Phe2086Ile) c.5746T>A (p.Phe1916Ile) c.4186T>A (p.Phe1396Ile) c.4177T>A (p.Phe1393Ile) n.6266+13602T>A | |
2 | g.15218821C>A | CA424866925 | NBAS | c.4370G>T c.4426+13601G>T c.895G>T c.2240G>T c.6384G>T (p.Val2128=) c.512+13601G>T (n.512+13601G>T) c.3527G>T n.6280+13601G>T c.6255G>T (p.Val2085=) c.5745G>T (p.Val1915=) c.4185G>T (p.Val1395=) c.4176G>T (p.Val1392=) n.6266+13601G>T | |
2 | g.15218821C>G | CA424866926 | NBAS | c.4370G>C c.4426+13601G>C c.895G>C c.2240G>C c.6384G>C (p.Val2128=) c.512+13601G>C (n.512+13601G>C) c.3527G>C n.6280+13601G>C c.6255G>C (p.Val2085=) c.5745G>C (p.Val1915=) c.4185G>C (p.Val1395=) c.4176G>C (p.Val1392=) n.6266+13601G>C | |
2 | g.15218821C>T | CA424866927 | NBAS | c.4370G>A c.4426+13601G>A c.895G>A c.2240G>A c.6384G>A (p.Val2128=) c.512+13601G>A (n.512+13601G>A) c.3527G>A n.6280+13601G>A c.6255G>A (p.Val2085=) c.5745G>A (p.Val1915=) c.4185G>A (p.Val1395=) c.4176G>A (p.Val1392=) n.6266+13601G>A | |
2 | g.15218821_15218822insCATGCATATGCATGTTCAAGCTTATGGAAAAATAAAAATAAATTTCGTTGT | CA2748957405 | NBAS | c.4369_4370insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG c.4426+13600_4426+13601insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG c.894_895insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG c.2239_2240insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG c.6383_6384insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG (p.Val2128_Phe2129insGlnArgAsnLeuPheLeuPhePheHisLysLeuGluHisAlaTyrAlaTrp) c.512+13600_512+13601insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG (n.512+13600_512+13601insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG) c.3526_3527insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG n.6280+13600_6280+13601insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG c.6254_6255insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG (p.Val2085_Phe2086insGlnArgAsnLeuPheLeuPhePheHisLysLeuGluHisAlaTyrAlaTrp) c.5744_5745insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG (p.Val1915_Phe1916insGlnArgAsnLeuPheLeuPhePheHisLysLeuGluHisAlaTyrAlaTrp) c.4184_4185insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG (p.Val1395_Phe1396insGlnArgAsnLeuPheLeuPhePheHisLysLeuGluHisAlaTyrAlaTrp) c.4175_4176insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG (p.Val1392_Phe1393insGlnArgAsnLeuPheLeuPhePheHisLysLeuGluHisAlaTyrAlaTrp) n.6266+13600_6266+13601insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG | |
2 | g.15218822A>C | CA345883964 | NBAS | c.4369T>G c.4426+13600T>G c.894T>G c.2239T>G c.6383T>G (p.Val2128Gly) c.512+13600T>G (n.512+13600T>G) c.3526T>G n.6280+13600T>G c.6254T>G (p.Val2085Gly) c.5744T>G (p.Val1915Gly) c.4184T>G (p.Val1395Gly) c.4175T>G (p.Val1392Gly) n.6266+13600T>G | |
2 | g.15218822A>G | CA345883960 | NBAS | c.4369T>C c.4426+13600T>C c.894T>C c.2239T>C c.6383T>C (p.Val2128Ala) c.512+13600T>C (n.512+13600T>C) c.3526T>C n.6280+13600T>C c.6254T>C (p.Val2085Ala) c.5744T>C (p.Val1915Ala) c.4184T>C (p.Val1395Ala) c.4175T>C (p.Val1392Ala) n.6266+13600T>C | |
2 | g.15218822A>T | CA345883954 | NBAS | c.4369T>A c.4426+13600T>A c.894T>A c.2239T>A c.6383T>A (p.Val2128Glu) c.512+13600T>A (n.512+13600T>A) c.3526T>A n.6280+13600T>A c.6254T>A (p.Val2085Glu) c.5744T>A (p.Val1915Glu) c.4184T>A (p.Val1395Glu) c.4175T>A (p.Val1392Glu) n.6266+13600T>A | |
2 | g.15218823C>A | CA1535022 | NBAS | c.4368G>T c.4426+13599G>T c.893G>T c.2238G>T c.6382G>T (p.Val2128Leu) c.512+13599G>T (n.512+13599G>T) c.3525G>T n.6280+13599G>T c.6253G>T (p.Val2085Leu) c.5743G>T (p.Val1915Leu) c.4183G>T (p.Val1395Leu) c.4174G>T (p.Val1392Leu) n.6266+13599G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218823C= | CA2490796192 | NBAS | c.4368G= c.4426+13599G= c.893G= c.2238G= c.6382G= (p.Val2128=) c.512+13599G= (n.512+13599G=) c.3525G= n.6280+13599G= c.6253G= (p.Val2085=) c.5743G= (p.Val1915=) c.4183G= (p.Val1395=) c.4174G= (p.Val1392=) n.6266+13599G= | |
2 | g.15218823C>G | CA42584333 | NBAS | c.4368G>C c.4426+13599G>C c.893G>C c.2238G>C c.6382G>C (p.Val2128Leu) c.512+13599G>C (n.512+13599G>C) c.3525G>C n.6280+13599G>C c.6253G>C (p.Val2085Leu) c.5743G>C (p.Val1915Leu) c.4183G>C (p.Val1395Leu) c.4174G>C (p.Val1392Leu) n.6266+13599G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218823C>T | CA1535023 | NBAS | c.4368G>A c.4426+13599G>A c.893G>A c.2238G>A c.6382G>A (p.Val2128Met) c.512+13599G>A (n.512+13599G>A) c.3525G>A n.6280+13599G>A c.6253G>A (p.Val2085Met) c.5743G>A (p.Val1915Met) c.4183G>A (p.Val1395Met) c.4174G>A (p.Val1392Met) n.6266+13599G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.15218823_15218824insATATTCAAGTACTAAATAGCT | CA2748957406 | NBAS | c.4367_4368insAGCTATTTAGTACTTGAATAT c.4426+13598_4426+13599insAGCTATTTAGTACTTGAATAT c.892_893insAGCTATTTAGTACTTGAATAT c.2237_2238insAGCTATTTAGTACTTGAATAT c.6381_6382insAGCTATTTAGTACTTGAATAT (p.Leu2127_Val2128insSerTyrLeuValLeuGluTyr) c.512+13598_512+13599insAGCTATTTAGTACTTGAATAT (n.512+13598_512+13599insAGCTATTTAGTACTTGAATAT) c.3524_3525insAGCTATTTAGTACTTGAATAT n.6280+13598_6280+13599insAGCTATTTAGTACTTGAATAT c.6252_6253insAGCTATTTAGTACTTGAATAT (p.Leu2084_Val2085insSerTyrLeuValLeuGluTyr) c.5742_5743insAGCTATTTAGTACTTGAATAT (p.Leu1914_Val1915insSerTyrLeuValLeuGluTyr) c.4182_4183insAGCTATTTAGTACTTGAATAT (p.Leu1394_Val1395insSerTyrLeuValLeuGluTyr) c.4173_4174insAGCTATTTAGTACTTGAATAT (p.Leu1391_Val1392insSerTyrLeuValLeuGluTyr) n.6266+13598_6266+13599insAGCTATTTAGTACTTGAATAT | |
2 | g.15218824G>A | CA1535024 | NBAS | c.4367C>T c.4426+13598C>T c.892C>T c.2237C>T c.6381C>T (p.Leu2127=) c.512+13598C>T (n.512+13598C>T) c.3524C>T n.6280+13598C>T c.6252C>T (p.Leu2084=) c.5742C>T (p.Leu1914=) c.4182C>T (p.Leu1394=) c.4173C>T (p.Leu1391=) n.6266+13598C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218824G>C | CA424866928 | NBAS | c.4367C>G c.4426+13598C>G c.892C>G c.2237C>G c.6381C>G (p.Leu2127=) c.512+13598C>G (n.512+13598C>G) c.3524C>G n.6280+13598C>G c.6252C>G (p.Leu2084=) c.5742C>G (p.Leu1914=) c.4182C>G (p.Leu1394=) c.4173C>G (p.Leu1391=) n.6266+13598C>G | |
2 | g.15218824G= | CA2490796193 | NBAS | c.4367C= c.4426+13598C= c.892C= c.2237C= c.6381C= (p.Leu2127=) c.512+13598C= (n.512+13598C=) c.3524C= n.6280+13598C= c.6252C= (p.Leu2084=) c.5742C= (p.Leu1914=) c.4182C= (p.Leu1394=) c.4173C= (p.Leu1391=) n.6266+13598C= | |
2 | g.15218824G>T | CA42584345 | NBAS | c.4367C>A c.4426+13598C>A c.892C>A c.2237C>A c.6381C>A (p.Leu2127=) c.512+13598C>A (n.512+13598C>A) c.3524C>A n.6280+13598C>A c.6252C>A (p.Leu2084=) c.5742C>A (p.Leu1914=) c.4182C>A (p.Leu1394=) c.4173C>A (p.Leu1391=) n.6266+13598C>A | dbSNP gnomAD v4 |
2 | g.15218825A= | CA2490796194 | NBAS | c.4366T= c.4426+13597T= c.891T= c.2236T= c.6380T= (p.Leu2127=) c.512+13597T= (n.512+13597T=) c.3523T= n.6280+13597T= c.6251T= (p.Leu2084=) c.5741T= (p.Leu1914=) c.4181T= (p.Leu1394=) c.4172T= (p.Leu1391=) n.6266+13597T= | |
2 | g.15218825A>C | CA345883983 | NBAS | c.4366T>G c.4426+13597T>G c.891T>G c.2236T>G c.6380T>G (p.Leu2127Arg) c.512+13597T>G (n.512+13597T>G) c.3523T>G n.6280+13597T>G c.6251T>G (p.Leu2084Arg) c.5741T>G (p.Leu1914Arg) c.4181T>G (p.Leu1394Arg) c.4172T>G (p.Leu1391Arg) n.6266+13597T>G | |
2 | g.15218825A>G | CA345883981 | NBAS | c.4366T>C c.4426+13597T>C c.891T>C c.2236T>C c.6380T>C (p.Leu2127Pro) c.512+13597T>C (n.512+13597T>C) c.3523T>C n.6280+13597T>C c.6251T>C (p.Leu2084Pro) c.5741T>C (p.Leu1914Pro) c.4181T>C (p.Leu1394Pro) c.4172T>C (p.Leu1391Pro) n.6266+13597T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218825A>T | CA345883978 | NBAS | c.4366T>A c.4426+13597T>A c.891T>A c.2236T>A c.6380T>A (p.Leu2127His) c.512+13597T>A (n.512+13597T>A) c.3523T>A n.6280+13597T>A c.6251T>A (p.Leu2084His) c.5741T>A (p.Leu1914His) c.4181T>A (p.Leu1394His) c.4172T>A (p.Leu1391His) n.6266+13597T>A | |
2 | g.15218825_15218826insTTGATATATATACT | CA2748957407 | NBAS | c.4365_4366insAGTATATATATCAA c.4426+13596_4426+13597insAGTATATATATCAA c.890_891insAGTATATATATCAA c.2235_2236insAGTATATATATCAA c.6379_6380insAGTATATATATCAA (p.Leu2127GlnfsTer24) c.512+13596_512+13597insAGTATATATATCAA (n.512+13596_512+13597insAGTATATATATCAA) c.3522_3523insAGTATATATATCAA n.6280+13596_6280+13597insAGTATATATATCAA c.6250_6251insAGTATATATATCAA (p.Leu2084GlnfsTer24) c.5740_5741insAGTATATATATCAA (p.Leu1914GlnfsTer24) c.4180_4181insAGTATATATATCAA (p.Leu1394GlnfsTer24) c.4171_4172insAGTATATATATCAA (p.Leu1391GlnfsTer24) n.6266+13596_6266+13597insAGTATATATATCAA | |
2 | g.15218826G>A | CA345883987 | NBAS | c.4365C>T c.4426+13596C>T c.890C>T c.2235C>T c.6379C>T (p.Leu2127Phe) c.512+13596C>T (n.512+13596C>T) c.3522C>T n.6280+13596C>T c.6250C>T (p.Leu2084Phe) c.5740C>T (p.Leu1914Phe) c.4180C>T (p.Leu1394Phe) c.4171C>T (p.Leu1391Phe) n.6266+13596C>T | dbSNP |
2 | g.15218826G>C | CA1535025 | NBAS | c.4365C>G c.4426+13596C>G c.890C>G c.2235C>G c.6379C>G (p.Leu2127Val) c.512+13596C>G (n.512+13596C>G) c.3522C>G n.6280+13596C>G c.6250C>G (p.Leu2084Val) c.5740C>G (p.Leu1914Val) c.4180C>G (p.Leu1394Val) c.4171C>G (p.Leu1391Val) n.6266+13596C>G | dbSNP ExAC gnomAD v2 |
2 | g.15218826G= | CA2490796195 | NBAS | c.4365C= c.4426+13596C= c.890C= c.2235C= c.6379C= (p.Leu2127=) c.512+13596C= (n.512+13596C=) c.3522C= n.6280+13596C= c.6250C= (p.Leu2084=) c.5740C= (p.Leu1914=) c.4180C= (p.Leu1394=) c.4171C= (p.Leu1391=) n.6266+13596C= | |
2 | g.15218826G>T | CA345883995 | NBAS | c.4365C>A c.4426+13596C>A c.890C>A c.2235C>A c.6379C>A (p.Leu2127Ile) c.512+13596C>A (n.512+13596C>A) c.3522C>A n.6280+13596C>A c.6250C>A (p.Leu2084Ile) c.5740C>A (p.Leu1914Ile) c.4180C>A (p.Leu1394Ile) c.4171C>A (p.Leu1391Ile) n.6266+13596C>A | |
2 | g.15218827G>A | CA42584350 | NBAS | c.4364C>T c.4426+13595C>T c.889C>T c.2234C>T c.6378C>T (p.Leu2126=) c.512+13595C>T (n.512+13595C>T) c.3521C>T n.6280+13595C>T c.6249C>T (p.Leu2083=) c.5739C>T (p.Leu1913=) c.4179C>T (p.Leu1393=) c.4170C>T (p.Leu1390=) n.6266+13595C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218827G>C | CA424866929 | NBAS | c.4364C>G c.4426+13595C>G c.889C>G c.2234C>G c.6378C>G (p.Leu2126=) c.512+13595C>G (n.512+13595C>G) c.3521C>G n.6280+13595C>G c.6249C>G (p.Leu2083=) c.5739C>G (p.Leu1913=) c.4179C>G (p.Leu1393=) c.4170C>G (p.Leu1390=) n.6266+13595C>G | |
2 | g.15218827G= | CA2490796196 | NBAS | c.4364C= c.4426+13595C= c.889C= c.2234C= c.6378C= (p.Leu2126=) c.512+13595C= (n.512+13595C=) c.3521C= n.6280+13595C= c.6249C= (p.Leu2083=) c.5739C= (p.Leu1913=) c.4179C= (p.Leu1393=) c.4170C= (p.Leu1390=) n.6266+13595C= | |
2 | g.15218827G>T | CA424866930 | NBAS | c.4364C>A c.4426+13595C>A c.889C>A c.2234C>A c.6378C>A (p.Leu2126=) c.512+13595C>A (n.512+13595C>A) c.3521C>A n.6280+13595C>A c.6249C>A (p.Leu2083=) c.5739C>A (p.Leu1913=) c.4179C>A (p.Leu1393=) c.4170C>A (p.Leu1390=) n.6266+13595C>A | |
2 | g.15218828A>C | CA345884001 | NBAS | c.4363T>G c.4426+13594T>G c.888T>G c.2233T>G c.6377T>G (p.Leu2126Arg) c.512+13594T>G (n.512+13594T>G) c.3520T>G n.6280+13594T>G c.6248T>G (p.Leu2083Arg) c.5738T>G (p.Leu1913Arg) c.4178T>G (p.Leu1393Arg) c.4169T>G (p.Leu1390Arg) n.6266+13594T>G | |
2 | g.15218828A>G | CA345884009 | NBAS | c.4363T>C c.4426+13594T>C c.888T>C c.2233T>C c.6377T>C (p.Leu2126Pro) c.512+13594T>C (n.512+13594T>C) c.3520T>C n.6280+13594T>C c.6248T>C (p.Leu2083Pro) c.5738T>C (p.Leu1913Pro) c.4178T>C (p.Leu1393Pro) c.4169T>C (p.Leu1390Pro) n.6266+13594T>C | |
2 | g.15218828A>T | CA345884012 | NBAS | c.4363T>A c.4426+13594T>A c.888T>A c.2233T>A c.6377T>A (p.Leu2126His) c.512+13594T>A (n.512+13594T>A) c.3520T>A n.6280+13594T>A c.6248T>A (p.Leu2083His) c.5738T>A (p.Leu1913His) c.4178T>A (p.Leu1393His) c.4169T>A (p.Leu1390His) n.6266+13594T>A | |
2 | g.15218829G>A | CA345884020 | NBAS | c.4362C>T c.4426+13593C>T c.887C>T c.2232C>T c.6376C>T (p.Leu2126Phe) c.512+13593C>T (n.512+13593C>T) c.3519C>T n.6280+13593C>T c.6247C>T (p.Leu2083Phe) c.5737C>T (p.Leu1913Phe) c.4177C>T (p.Leu1393Phe) c.4168C>T (p.Leu1390Phe) n.6266+13593C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15218829G>C | CA345884028 | NBAS | c.4362C>G c.4426+13593C>G c.887C>G c.2232C>G c.6376C>G (p.Leu2126Val) c.512+13593C>G (n.512+13593C>G) c.3519C>G n.6280+13593C>G c.6247C>G (p.Leu2083Val) c.5737C>G (p.Leu1913Val) c.4177C>G (p.Leu1393Val) c.4168C>G (p.Leu1390Val) n.6266+13593C>G | |
2 | g.15218829G= | CA2490796197 | NBAS | c.4362C= c.4426+13593C= c.887C= c.2232C= c.6376C= (p.Leu2126=) c.512+13593C= (n.512+13593C=) c.3519C= n.6280+13593C= c.6247C= (p.Leu2083=) c.5737C= (p.Leu1913=) c.4177C= (p.Leu1393=) c.4168C= (p.Leu1390=) n.6266+13593C= | |
2 | g.15218829G>T | CA345884026 | NBAS | c.4362C>A c.4426+13593C>A c.887C>A c.2232C>A c.6376C>A (p.Leu2126Ile) c.512+13593C>A (n.512+13593C>A) c.3519C>A n.6280+13593C>A c.6247C>A (p.Leu2083Ile) c.5737C>A (p.Leu1913Ile) c.4177C>A (p.Leu1393Ile) c.4168C>A (p.Leu1390Ile) n.6266+13593C>A | |
2 | g.15218830C>A | CA345884044 | NBAS | c.4361G>T c.4426+13592G>T c.886G>T c.2231G>T c.6375G>T (p.Lys2125Asn) c.512+13592G>T (n.512+13592G>T) c.3518G>T n.6280+13592G>T c.6246G>T (p.Lys2082Asn) c.5736G>T (p.Lys1912Asn) c.4176G>T (p.Lys1392Asn) c.4167G>T (p.Lys1389Asn) n.6266+13592G>T | |
2 | g.15218830C= | CA2490796198 | NBAS | c.4361G= c.4426+13592G= c.886G= c.2231G= c.6375G= (p.Lys2125=) c.512+13592G= (n.512+13592G=) c.3518G= n.6280+13592G= c.6246G= (p.Lys2082=) c.5736G= (p.Lys1912=) c.4176G= (p.Lys1392=) c.4167G= (p.Lys1389=) n.6266+13592G= | |
2 | g.15218830C>G | CA345884046 | NBAS | c.4361G>C c.4426+13592G>C c.886G>C c.2231G>C c.6375G>C (p.Lys2125Asn) c.512+13592G>C (n.512+13592G>C) c.3518G>C n.6280+13592G>C c.6246G>C (p.Lys2082Asn) c.5736G>C (p.Lys1912Asn) c.4176G>C (p.Lys1392Asn) c.4167G>C (p.Lys1389Asn) n.6266+13592G>C | |
2 | g.15218830C>T | CA1535026 | NBAS | c.4361G>A c.4426+13592G>A c.886G>A c.2231G>A c.6375G>A (p.Lys2125=) c.512+13592G>A (n.512+13592G>A) c.3518G>A n.6280+13592G>A c.6246G>A (p.Lys2082=) c.5736G>A (p.Lys1912=) c.4176G>A (p.Lys1392=) c.4167G>A (p.Lys1389=) n.6266+13592G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218831T>A | CA345884047 | NBAS | c.4360A>T c.4426+13591A>T c.885A>T c.2230A>T c.6374A>T (p.Lys2125Met) c.512+13591A>T (n.512+13591A>T) c.3517A>T n.6280+13591A>T c.6245A>T (p.Lys2082Met) c.5735A>T (p.Lys1912Met) c.4175A>T (p.Lys1392Met) c.4166A>T (p.Lys1389Met) n.6266+13591A>T | |
2 | g.15218831T>C | CA345884057 | NBAS | c.4360A>G c.4426+13591A>G c.885A>G c.2230A>G c.6374A>G (p.Lys2125Arg) c.512+13591A>G (n.512+13591A>G) c.3517A>G n.6280+13591A>G c.6245A>G (p.Lys2082Arg) c.5735A>G (p.Lys1912Arg) c.4175A>G (p.Lys1392Arg) c.4166A>G (p.Lys1389Arg) n.6266+13591A>G | gnomAD v4 |
2 | g.15218831T>G | CA345884061 | NBAS | c.4360A>C c.4426+13591A>C c.885A>C c.2230A>C c.6374A>C (p.Lys2125Thr) c.512+13591A>C (n.512+13591A>C) c.3517A>C n.6280+13591A>C c.6245A>C (p.Lys2082Thr) c.5735A>C (p.Lys1912Thr) c.4175A>C (p.Lys1392Thr) c.4166A>C (p.Lys1389Thr) n.6266+13591A>C | |
2 | g.15218832T>A | CA345884068 | NBAS | c.4359A>T c.4426+13590A>T c.884A>T c.2229A>T c.6373A>T (p.Lys2125Ter) c.512+13590A>T (n.512+13590A>T) c.3516A>T n.6280+13590A>T c.6244A>T (p.Lys2082Ter) c.5734A>T (p.Lys1912Ter) c.4174A>T (p.Lys1392Ter) c.4165A>T (p.Lys1389Ter) n.6266+13590A>T | |
2 | g.15218832T>C | CA345884077 | NBAS | c.4359A>G c.4426+13590A>G c.884A>G c.2229A>G c.6373A>G (p.Lys2125Glu) c.512+13590A>G (n.512+13590A>G) c.3516A>G n.6280+13590A>G c.6244A>G (p.Lys2082Glu) c.5734A>G (p.Lys1912Glu) c.4174A>G (p.Lys1392Glu) c.4165A>G (p.Lys1389Glu) n.6266+13590A>G | |
2 | g.15218832T>G | CA345884080 | NBAS | c.4359A>C c.4426+13590A>C c.884A>C c.2229A>C c.6373A>C (p.Lys2125Gln) c.512+13590A>C (n.512+13590A>C) c.3516A>C n.6280+13590A>C c.6244A>C (p.Lys2082Gln) c.5734A>C (p.Lys1912Gln) c.4174A>C (p.Lys1392Gln) c.4165A>C (p.Lys1389Gln) n.6266+13590A>C | dbSNP gnomAD v4 |
2 | g.15218832T= | CA2490796199 | NBAS | c.4359A= c.4426+13590A= c.884A= c.2229A= c.6373A= (p.Lys2125=) c.512+13590A= (n.512+13590A=) c.3516A= n.6280+13590A= c.6244A= (p.Lys2082=) c.5734A= (p.Lys1912=) c.4174A= (p.Lys1392=) c.4165A= (p.Lys1389=) n.6266+13590A= | |
2 | g.15218833G>A | CA424866931 | NBAS | c.4358C>T c.4426+13589C>T c.883C>T c.2228C>T c.6372C>T (p.Ser2124=) c.512+13589C>T (n.512+13589C>T) c.3515C>T n.6280+13589C>T c.6243C>T (p.Ser2081=) c.5733C>T (p.Ser1911=) c.4173C>T (p.Ser1391=) c.4164C>T (p.Ser1388=) n.6266+13589C>T | |
2 | g.15218833G>C | CA345884088 | NBAS | c.4358C>G c.4426+13589C>G c.883C>G c.2228C>G c.6372C>G (p.Ser2124Arg) c.512+13589C>G (n.512+13589C>G) c.3515C>G n.6280+13589C>G c.6243C>G (p.Ser2081Arg) c.5733C>G (p.Ser1911Arg) c.4173C>G (p.Ser1391Arg) c.4164C>G (p.Ser1388Arg) n.6266+13589C>G | |
2 | g.15218833G>T | CA345884089 | NBAS | c.4358C>A c.4426+13589C>A c.883C>A c.2228C>A c.6372C>A (p.Ser2124Arg) c.512+13589C>A (n.512+13589C>A) c.3515C>A n.6280+13589C>A c.6243C>A (p.Ser2081Arg) c.5733C>A (p.Ser1911Arg) c.4173C>A (p.Ser1391Arg) c.4164C>A (p.Ser1388Arg) n.6266+13589C>A | |
2 | g.15218834C>A | CA345884114 | NBAS | c.4357G>T c.4426+13588G>T c.882G>T c.2227G>T c.6371G>T (p.Ser2124Ile) c.512+13588G>T (n.512+13588G>T) c.3514G>T n.6280+13588G>T c.6242G>T (p.Ser2081Ile) c.5732G>T (p.Ser1911Ile) c.4172G>T (p.Ser1391Ile) c.4163G>T (p.Ser1388Ile) n.6266+13588G>T | |
2 | g.15218834C>G | CA345884111 | NBAS | c.4357G>C c.4426+13588G>C c.882G>C c.2227G>C c.6371G>C (p.Ser2124Thr) c.512+13588G>C (n.512+13588G>C) c.3514G>C n.6280+13588G>C c.6242G>C (p.Ser2081Thr) c.5732G>C (p.Ser1911Thr) c.4172G>C (p.Ser1391Thr) c.4163G>C (p.Ser1388Thr) n.6266+13588G>C | |
2 | g.15218834C>T | CA345884094 | NBAS | c.4357G>A c.4426+13588G>A c.882G>A c.2227G>A c.6371G>A (p.Ser2124Asn) c.512+13588G>A (n.512+13588G>A) c.3514G>A n.6280+13588G>A c.6242G>A (p.Ser2081Asn) c.5732G>A (p.Ser1911Asn) c.4172G>A (p.Ser1391Asn) c.4163G>A (p.Ser1388Asn) n.6266+13588G>A | |
2 | g.15218835T>A | CA345884116 | NBAS | c.4356A>T c.4426+13587A>T c.881A>T c.2226A>T c.6370A>T (p.Ser2124Cys) c.512+13587A>T (n.512+13587A>T) c.3513A>T n.6280+13587A>T c.6241A>T (p.Ser2081Cys) c.5731A>T (p.Ser1911Cys) c.4171A>T (p.Ser1391Cys) c.4162A>T (p.Ser1388Cys) n.6266+13587A>T | gnomAD v4 |
2 | g.15218835T>C | CA345884117 | NBAS | c.4356A>G c.4426+13587A>G c.881A>G c.2226A>G c.6370A>G (p.Ser2124Gly) c.512+13587A>G (n.512+13587A>G) c.3513A>G n.6280+13587A>G c.6241A>G (p.Ser2081Gly) c.5731A>G (p.Ser1911Gly) c.4171A>G (p.Ser1391Gly) c.4162A>G (p.Ser1388Gly) n.6266+13587A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15218835T>G | CA345884118 | NBAS | c.4356A>C c.4426+13587A>C c.881A>C c.2226A>C c.6370A>C (p.Ser2124Arg) c.512+13587A>C (n.512+13587A>C) c.3513A>C n.6280+13587A>C c.6241A>C (p.Ser2081Arg) c.5731A>C (p.Ser1911Arg) c.4171A>C (p.Ser1391Arg) c.4162A>C (p.Ser1388Arg) n.6266+13587A>C | |
2 | g.15218835T= | CA2490796200 | NBAS | c.4356A= c.4426+13587A= c.881A= c.2226A= c.6370A= (p.Ser2124=) c.512+13587A= (n.512+13587A=) c.3513A= n.6280+13587A= c.6241A= (p.Ser2081=) c.5731A= (p.Ser1911=) c.4171A= (p.Ser1391=) c.4162A= (p.Ser1388=) n.6266+13587A= | |
2 | g.15218836G>A | CA424866932 | NBAS | c.4355C>T c.4426+13586C>T c.880C>T c.2225C>T c.6369C>T (p.Asp2123=) c.512+13586C>T (n.512+13586C>T) c.3512C>T n.6280+13586C>T c.6240C>T (p.Asp2080=) c.5730C>T (p.Asp1910=) c.4170C>T (p.Asp1390=) c.4161C>T (p.Asp1387=) n.6266+13586C>T | |
2 | g.15218836G>C | CA345884119 | NBAS | c.4355C>G c.4426+13586C>G c.880C>G c.2225C>G c.6369C>G (p.Asp2123Glu) c.512+13586C>G (n.512+13586C>G) c.3512C>G n.6280+13586C>G c.6240C>G (p.Asp2080Glu) c.5730C>G (p.Asp1910Glu) c.4170C>G (p.Asp1390Glu) c.4161C>G (p.Asp1387Glu) n.6266+13586C>G | |
2 | g.15218836G>T | CA345884122 | NBAS | c.4355C>A c.4426+13586C>A c.880C>A c.2225C>A c.6369C>A (p.Asp2123Glu) c.512+13586C>A (n.512+13586C>A) c.3512C>A n.6280+13586C>A c.6240C>A (p.Asp2080Glu) c.5730C>A (p.Asp1910Glu) c.4170C>A (p.Asp1390Glu) c.4161C>A (p.Asp1387Glu) n.6266+13586C>A | |
2 | g.15218836_15218839delinsGTCC | CA2490796201 | NBAS | c.4352_4355delinsGGAC c.4426+13583_4426+13586delinsGGAC c.877_880delinsGGAC c.2222_2225delinsGGAC c.6366_6369delinsGGAC (p.Glu2122=) c.512+13583_512+13586delinsGGAC (n.512+13583_512+13586delinsGGAC) c.3509_3512delinsGGAC n.6280+13583_6280+13586delinsGGAC c.6237_6240delinsGGAC (p.Glu2079=) c.5727_5730delinsGGAC (p.Glu1909=) c.4167_4170delinsGGAC (p.Glu1389=) c.4158_4161delinsGGAC (p.Glu1386=) n.6266+13583_6266+13586delinsGGAC | |
2 | g.15218837T>A | CA345884128 | NBAS | c.4354A>T c.4426+13585A>T c.879A>T c.2224A>T c.6368A>T (p.Asp2123Val) c.512+13585A>T (n.512+13585A>T) c.3511A>T n.6280+13585A>T c.6239A>T (p.Asp2080Val) c.5729A>T (p.Asp1910Val) c.4169A>T (p.Asp1390Val) c.4160A>T (p.Asp1387Val) n.6266+13585A>T | |
2 | g.15218837T>C | CA345884131 | NBAS | c.4354A>G c.4426+13585A>G c.879A>G c.2224A>G c.6368A>G (p.Asp2123Gly) c.512+13585A>G (n.512+13585A>G) c.3511A>G n.6280+13585A>G c.6239A>G (p.Asp2080Gly) c.5729A>G (p.Asp1910Gly) c.4169A>G (p.Asp1390Gly) c.4160A>G (p.Asp1387Gly) n.6266+13585A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15218837T>G | CA345884133 | NBAS | c.4354A>C c.4426+13585A>C c.879A>C c.2224A>C c.6368A>C (p.Asp2123Ala) c.512+13585A>C (n.512+13585A>C) c.3511A>C n.6280+13585A>C c.6239A>C (p.Asp2080Ala) c.5729A>C (p.Asp1910Ala) c.4169A>C (p.Asp1390Ala) c.4160A>C (p.Asp1387Ala) n.6266+13585A>C | |
2 | g.15218837T= | CA2490796202 | NBAS | c.4354A= c.4426+13585A= c.879A= c.2224A= c.6368A= (p.Asp2123=) c.512+13585A= (n.512+13585A=) c.3511A= n.6280+13585A= c.6239A= (p.Asp2080=) c.5729A= (p.Asp1910=) c.4169A= (p.Asp1390=) c.4160A= (p.Asp1387=) n.6266+13585A= | |
2 | g.15218842_15218844del | CA424866933 | NBAS | c.4352_4354del c.4426+13583_4426+13585del c.877_879del c.2222_2224del c.6366_6368del (p.Glu2122del) c.512+13583_512+13585del (n.512+13583_512+13585del) c.3509_3511del n.6280+13583_6280+13585del c.6237_6239del (p.Glu2079del) c.5727_5729del (p.Glu1909del) c.4167_4169del (p.Glu1389del) c.4158_4160del (p.Glu1386del) n.6266+13583_6266+13585del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15218838C>A | CA345884138 | NBAS | c.4353G>T c.4426+13584G>T c.878G>T c.2223G>T c.6367G>T (p.Asp2123Tyr) c.512+13584G>T (n.512+13584G>T) c.3510G>T n.6280+13584G>T c.6238G>T (p.Asp2080Tyr) c.5728G>T (p.Asp1910Tyr) c.4168G>T (p.Asp1390Tyr) c.4159G>T (p.Asp1387Tyr) n.6266+13584G>T | |
2 | g.15218838C>G | CA345884152 | NBAS | c.4353G>C c.4426+13584G>C c.878G>C c.2223G>C c.6367G>C (p.Asp2123His) c.512+13584G>C (n.512+13584G>C) c.3510G>C n.6280+13584G>C c.6238G>C (p.Asp2080His) c.5728G>C (p.Asp1910His) c.4168G>C (p.Asp1390His) c.4159G>C (p.Asp1387His) n.6266+13584G>C | |
2 | g.15218838C>T | CA345884157 | NBAS | c.4353G>A c.4426+13584G>A c.878G>A c.2223G>A c.6367G>A (p.Asp2123Asn) c.512+13584G>A (n.512+13584G>A) c.3510G>A n.6280+13584G>A c.6238G>A (p.Asp2080Asn) c.5728G>A (p.Asp1910Asn) c.4168G>A (p.Asp1390Asn) c.4159G>A (p.Asp1387Asn) n.6266+13584G>A | gnomAD v4 |
2 | g.15218839C>A | CA345884164 | NBAS | c.4352G>T c.4426+13583G>T c.877G>T c.2222G>T c.6366G>T (p.Glu2122Asp) c.512+13583G>T (n.512+13583G>T) c.3509G>T n.6280+13583G>T c.6237G>T (p.Glu2079Asp) c.5727G>T (p.Glu1909Asp) c.4167G>T (p.Glu1389Asp) c.4158G>T (p.Glu1386Asp) n.6266+13583G>T | |
2 | g.15218839C>G | CA345884169 | NBAS | c.4352G>C c.4426+13583G>C c.877G>C c.2222G>C c.6366G>C (p.Glu2122Asp) c.512+13583G>C (n.512+13583G>C) c.3509G>C n.6280+13583G>C c.6237G>C (p.Glu2079Asp) c.5727G>C (p.Glu1909Asp) c.4167G>C (p.Glu1389Asp) c.4158G>C (p.Glu1386Asp) n.6266+13583G>C | |
2 | g.15218839C>T | CA424866934 | NBAS | c.4352G>A c.4426+13583G>A c.877G>A c.2222G>A c.6366G>A (p.Glu2122=) c.512+13583G>A (n.512+13583G>A) c.3509G>A n.6280+13583G>A c.6237G>A (p.Glu2079=) c.5727G>A (p.Glu1909=) c.4167G>A (p.Glu1389=) c.4158G>A (p.Glu1386=) n.6266+13583G>A | gnomAD v4 |
2 | g.15218840T>A | CA345884183 | NBAS | c.4351A>T c.4426+13582A>T c.876A>T c.2221A>T c.6365A>T (p.Glu2122Val) c.512+13582A>T (n.512+13582A>T) c.3508A>T n.6280+13582A>T c.6236A>T (p.Glu2079Val) c.5726A>T (p.Glu1909Val) c.4166A>T (p.Glu1389Val) c.4157A>T (p.Glu1386Val) n.6266+13582A>T | |
2 | g.15218840T>C | CA345884180 | NBAS | c.4351A>G c.4426+13582A>G c.876A>G c.2221A>G c.6365A>G (p.Glu2122Gly) c.512+13582A>G (n.512+13582A>G) c.3508A>G n.6280+13582A>G c.6236A>G (p.Glu2079Gly) c.5726A>G (p.Glu1909Gly) c.4166A>G (p.Glu1389Gly) c.4157A>G (p.Glu1386Gly) n.6266+13582A>G | |
2 | g.15218840T>G | CA345884175 | NBAS | c.4351A>C c.4426+13582A>C c.876A>C c.2221A>C c.6365A>C (p.Glu2122Ala) c.512+13582A>C (n.512+13582A>C) c.3508A>C n.6280+13582A>C c.6236A>C (p.Glu2079Ala) c.5726A>C (p.Glu1909Ala) c.4166A>C (p.Glu1389Ala) c.4157A>C (p.Glu1386Ala) n.6266+13582A>C | |
2 | g.15218841C>A | CA345884190 | NBAS | c.4350G>T c.4426+13581G>T c.875G>T c.2220G>T c.6364G>T (p.Glu2122Ter) c.512+13581G>T (n.512+13581G>T) c.3507G>T n.6280+13581G>T c.6235G>T (p.Glu2079Ter) c.5725G>T (p.Glu1909Ter) c.4165G>T (p.Glu1389Ter) c.4156G>T (p.Glu1386Ter) n.6266+13581G>T | |
2 | g.15218841C= | CA2490796203 | NBAS | c.4350G= c.4426+13581G= c.875G= c.2220G= c.6364G= (p.Glu2122=) c.512+13581G= (n.512+13581G=) c.3507G= n.6280+13581G= c.6235G= (p.Glu2079=) c.5725G= (p.Glu1909=) c.4165G= (p.Glu1389=) c.4156G= (p.Glu1386=) n.6266+13581G= | |
2 | g.15218841C>G | CA345884191 | NBAS | c.4350G>C c.4426+13581G>C c.875G>C c.2220G>C c.6364G>C (p.Glu2122Gln) c.512+13581G>C (n.512+13581G>C) c.3507G>C n.6280+13581G>C c.6235G>C (p.Glu2079Gln) c.5725G>C (p.Glu1909Gln) c.4165G>C (p.Glu1389Gln) c.4156G>C (p.Glu1386Gln) n.6266+13581G>C | |
2 | g.15218841C>T | CA42584362 | NBAS | c.4350G>A c.4426+13581G>A c.875G>A c.2220G>A c.6364G>A (p.Glu2122Lys) c.512+13581G>A (n.512+13581G>A) c.3507G>A n.6280+13581G>A c.6235G>A (p.Glu2079Lys) c.5725G>A (p.Glu1909Lys) c.4165G>A (p.Glu1389Lys) c.4156G>A (p.Glu1386Lys) n.6266+13581G>A | dbSNP |
2 | g.15218842C>A | CA345884203 | NBAS | c.4349G>T c.4426+13580G>T c.874G>T c.2219G>T c.6363G>T (p.Glu2121Asp) c.512+13580G>T (n.512+13580G>T) c.3506G>T n.6280+13580G>T c.6234G>T (p.Glu2078Asp) c.5724G>T (p.Glu1908Asp) c.4164G>T (p.Glu1388Asp) c.4155G>T (p.Glu1385Asp) n.6266+13580G>T | COSMIC |
2 | g.15218842C>G | CA345884207 | NBAS | c.4349G>C c.4426+13580G>C c.874G>C c.2219G>C c.6363G>C (p.Glu2121Asp) c.512+13580G>C (n.512+13580G>C) c.3506G>C n.6280+13580G>C c.6234G>C (p.Glu2078Asp) c.5724G>C (p.Glu1908Asp) c.4164G>C (p.Glu1388Asp) c.4155G>C (p.Glu1385Asp) n.6266+13580G>C | gnomAD v4 |
2 | g.15218842C>T | CA424866935 | NBAS | c.4349G>A c.4426+13580G>A c.874G>A c.2219G>A c.6363G>A (p.Glu2121=) c.512+13580G>A (n.512+13580G>A) c.3506G>A n.6280+13580G>A c.6234G>A (p.Glu2078=) c.5724G>A (p.Glu1908=) c.4164G>A (p.Glu1388=) c.4155G>A (p.Glu1385=) n.6266+13580G>A | |
2 | g.15218843T>A | CA345884215 | NBAS | c.4348A>T c.4426+13579A>T c.873A>T c.2218A>T c.6362A>T (p.Glu2121Val) c.512+13579A>T (n.512+13579A>T) c.3505A>T n.6280+13579A>T c.6233A>T (p.Glu2078Val) c.5723A>T (p.Glu1908Val) c.4163A>T (p.Glu1388Val) c.4154A>T (p.Glu1385Val) n.6266+13579A>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15218843T>C | CA345884224 | NBAS | c.4348A>G c.4426+13579A>G c.873A>G c.2218A>G c.6362A>G (p.Glu2121Gly) c.512+13579A>G (n.512+13579A>G) c.3505A>G n.6280+13579A>G c.6233A>G (p.Glu2078Gly) c.5723A>G (p.Glu1908Gly) c.4163A>G (p.Glu1388Gly) c.4154A>G (p.Glu1385Gly) n.6266+13579A>G | |
2 | g.15218843T>G | CA345884227 | NBAS | c.4348A>C c.4426+13579A>C c.873A>C c.2218A>C c.6362A>C (p.Glu2121Ala) c.512+13579A>C (n.512+13579A>C) c.3505A>C n.6280+13579A>C c.6233A>C (p.Glu2078Ala) c.5723A>C (p.Glu1908Ala) c.4163A>C (p.Glu1388Ala) c.4154A>C (p.Glu1385Ala) n.6266+13579A>C | |
2 | g.15218843T= | CA2490796204 | NBAS | c.4348A= c.4426+13579A= c.873A= c.2218A= c.6362A= (p.Glu2121=) c.512+13579A= (n.512+13579A=) c.3505A= n.6280+13579A= c.6233A= (p.Glu2078=) c.5723A= (p.Glu1908=) c.4163A= (p.Glu1388=) c.4154A= (p.Glu1385=) n.6266+13579A= | |
2 | g.15218847_15218850del | CA2657930724 | NBAS | c.4345_4348del c.4426+13576_4426+13579del c.870_873del c.2215_2218del c.6359_6362del (p.Thr2120ArgfsTer25) c.512+13576_512+13579del (n.512+13576_512+13579del) c.3502_3505del n.6280+13576_6280+13579del c.6230_6233del (p.Thr2077ArgfsTer25) c.5720_5723del (p.Thr1907ArgfsTer25) c.4160_4163del (p.Thr1387ArgfsTer25) c.4151_4154del (p.Thr1384ArgfsTer25) n.6266+13576_6266+13579del | gnomAD v4 |
2 | g.15218844C>A | CA345884231 | NBAS | c.4347G>T c.4426+13578G>T c.872G>T c.2217G>T c.6361G>T (p.Glu2121Ter) c.512+13578G>T (n.512+13578G>T) c.3504G>T n.6280+13578G>T c.6232G>T (p.Glu2078Ter) c.5722G>T (p.Glu1908Ter) c.4162G>T (p.Glu1388Ter) c.4153G>T (p.Glu1385Ter) n.6266+13578G>T | |
2 | g.15218844C>G | CA345884235 | NBAS | c.4347G>C c.4426+13578G>C c.872G>C c.2217G>C c.6361G>C (p.Glu2121Gln) c.512+13578G>C (n.512+13578G>C) c.3504G>C n.6280+13578G>C c.6232G>C (p.Glu2078Gln) c.5722G>C (p.Glu1908Gln) c.4162G>C (p.Glu1388Gln) c.4153G>C (p.Glu1385Gln) n.6266+13578G>C | COSMIC |
2 | g.15218844C>T | CA345884247 | NBAS | c.4347G>A c.4426+13578G>A c.872G>A c.2217G>A c.6361G>A (p.Glu2121Lys) c.512+13578G>A (n.512+13578G>A) c.3504G>A n.6280+13578G>A c.6232G>A (p.Glu2078Lys) c.5722G>A (p.Glu1908Lys) c.4162G>A (p.Glu1388Lys) c.4153G>A (p.Glu1385Lys) n.6266+13578G>A | |
2 | g.15218845A= | CA2490796205 | NBAS | c.4346T= c.4426+13577T= c.871T= c.2216T= c.6360T= (p.Thr2120=) c.512+13577T= (n.512+13577T=) c.3503T= n.6280+13577T= c.6231T= (p.Thr2077=) c.5721T= (p.Thr1907=) c.4161T= (p.Thr1387=) c.4152T= (p.Thr1384=) n.6266+13577T= | |
2 | g.15218845A>C | CA424866936 | NBAS | c.4346T>G c.4426+13577T>G c.871T>G c.2216T>G c.6360T>G (p.Thr2120=) c.512+13577T>G (n.512+13577T>G) c.3503T>G n.6280+13577T>G c.6231T>G (p.Thr2077=) c.5721T>G (p.Thr1907=) c.4161T>G (p.Thr1387=) c.4152T>G (p.Thr1384=) n.6266+13577T>G | |
2 | g.15218845A>G | CA424866937 | NBAS | c.4346T>C c.4426+13577T>C c.871T>C c.2216T>C c.6360T>C (p.Thr2120=) c.512+13577T>C (n.512+13577T>C) c.3503T>C n.6280+13577T>C c.6231T>C (p.Thr2077=) c.5721T>C (p.Thr1907=) c.4161T>C (p.Thr1387=) c.4152T>C (p.Thr1384=) n.6266+13577T>C | |
2 | g.15218845A>T | CA424866938 | NBAS | c.4346T>A c.4426+13577T>A c.871T>A c.2216T>A c.6360T>A (p.Thr2120=) c.512+13577T>A (n.512+13577T>A) c.3503T>A n.6280+13577T>A c.6231T>A (p.Thr2077=) c.5721T>A (p.Thr1907=) c.4161T>A (p.Thr1387=) c.4152T>A (p.Thr1384=) n.6266+13577T>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15218846G>A | CA345884259 | NBAS | c.4345C>T c.4426+13576C>T c.870C>T c.2215C>T c.6359C>T (p.Thr2120Ile) c.512+13576C>T (n.512+13576C>T) c.3502C>T n.6280+13576C>T c.6230C>T (p.Thr2077Ile) c.5720C>T (p.Thr1907Ile) c.4160C>T (p.Thr1387Ile) c.4151C>T (p.Thr1384Ile) n.6266+13576C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15218846G>C | CA345884267 | NBAS | c.4345C>G c.4426+13576C>G c.870C>G c.2215C>G c.6359C>G (p.Thr2120Ser) c.512+13576C>G (n.512+13576C>G) c.3502C>G n.6280+13576C>G c.6230C>G (p.Thr2077Ser) c.5720C>G (p.Thr1907Ser) c.4160C>G (p.Thr1387Ser) c.4151C>G (p.Thr1384Ser) n.6266+13576C>G | |
2 | g.15218846G= | CA2490796206 | NBAS | c.4345C= c.4426+13576C= c.870C= c.2215C= c.6359C= (p.Thr2120=) c.512+13576C= (n.512+13576C=) c.3502C= n.6280+13576C= c.6230C= (p.Thr2077=) c.5720C= (p.Thr1907=) c.4160C= (p.Thr1387=) c.4151C= (p.Thr1384=) n.6266+13576C= | |
2 | g.15218846G>T | CA345884271 | NBAS | c.4345C>A c.4426+13576C>A c.870C>A c.2215C>A c.6359C>A (p.Thr2120Asn) c.512+13576C>A (n.512+13576C>A) c.3502C>A n.6280+13576C>A c.6230C>A (p.Thr2077Asn) c.5720C>A (p.Thr1907Asn) c.4160C>A (p.Thr1387Asn) c.4151C>A (p.Thr1384Asn) n.6266+13576C>A | |
2 | g.15218847T>A | CA345884285 | NBAS | c.4344A>T c.4426+13575A>T c.869A>T c.2214A>T c.6358A>T (p.Thr2120Ser) c.512+13575A>T (n.512+13575A>T) c.3501A>T n.6280+13575A>T c.6229A>T (p.Thr2077Ser) c.5719A>T (p.Thr1907Ser) c.4159A>T (p.Thr1387Ser) c.4150A>T (p.Thr1384Ser) n.6266+13575A>T | |
2 | g.15218847T>C | CA345884281 | NBAS | c.4344A>G c.4426+13575A>G c.869A>G c.2214A>G c.6358A>G (p.Thr2120Ala) c.512+13575A>G (n.512+13575A>G) c.3501A>G n.6280+13575A>G c.6229A>G (p.Thr2077Ala) c.5719A>G (p.Thr1907Ala) c.4159A>G (p.Thr1387Ala) c.4150A>G (p.Thr1384Ala) n.6266+13575A>G | |
2 | g.15218847T>G | CA345884275 | NBAS | c.4344A>C c.4426+13575A>C c.869A>C c.2214A>C c.6358A>C (p.Thr2120Pro) c.512+13575A>C (n.512+13575A>C) c.3501A>C n.6280+13575A>C c.6229A>C (p.Thr2077Pro) c.5719A>C (p.Thr1907Pro) c.4159A>C (p.Thr1387Pro) c.4150A>C (p.Thr1384Pro) n.6266+13575A>C | |
2 | g.15218848C>A | CA424866939 | NBAS | c.4343G>T c.4426+13574G>T c.868G>T c.2213G>T c.6357G>T (p.Leu2119=) c.512+13574G>T (n.512+13574G>T) c.3500G>T n.6280+13574G>T c.6228G>T (p.Leu2076=) c.5718G>T (p.Leu1906=) c.4158G>T (p.Leu1386=) c.4149G>T (p.Leu1383=) n.6266+13574G>T | |
2 | g.15218848C= | CA2490796207 | NBAS | c.4343G= c.4426+13574G= c.868G= c.2213G= c.6357G= (p.Leu2119=) c.512+13574G= (n.512+13574G=) c.3500G= n.6280+13574G= c.6228G= (p.Leu2076=) c.5718G= (p.Leu1906=) c.4158G= (p.Leu1386=) c.4149G= (p.Leu1383=) n.6266+13574G= | |
2 | g.15218848C>G | CA424866940 | NBAS | c.4343G>C c.4426+13574G>C c.868G>C c.2213G>C c.6357G>C (p.Leu2119=) c.512+13574G>C (n.512+13574G>C) c.3500G>C n.6280+13574G>C c.6228G>C (p.Leu2076=) c.5718G>C (p.Leu1906=) c.4158G>C (p.Leu1386=) c.4149G>C (p.Leu1383=) n.6266+13574G>C | gnomAD v4 |
2 | g.15218848C>T | CA424866941 | NBAS | c.4343G>A c.4426+13574G>A c.868G>A c.2213G>A c.6357G>A (p.Leu2119=) c.512+13574G>A (n.512+13574G>A) c.3500G>A n.6280+13574G>A c.6228G>A (p.Leu2076=) c.5718G>A (p.Leu1906=) c.4158G>A (p.Leu1386=) c.4149G>A (p.Leu1383=) n.6266+13574G>A | dbSNP |
2 | g.15218849A= | CA2490796208 | NBAS | c.4342T= c.4426+13573T= c.867T= c.2212T= c.6356T= (p.Leu2119=) c.512+13573T= (n.512+13573T=) c.3499T= n.6280+13573T= c.6227T= (p.Leu2076=) c.5717T= (p.Leu1906=) c.4157T= (p.Leu1386=) c.4148T= (p.Leu1383=) n.6266+13573T= | |
2 | g.15218849A>C | CA345884290 | NBAS | c.4342T>G c.4426+13573T>G c.867T>G c.2212T>G c.6356T>G (p.Leu2119Arg) c.512+13573T>G (n.512+13573T>G) c.3499T>G n.6280+13573T>G c.6227T>G (p.Leu2076Arg) c.5717T>G (p.Leu1906Arg) c.4157T>G (p.Leu1386Arg) c.4148T>G (p.Leu1383Arg) n.6266+13573T>G | ClinVar dbSNP gnomAD v4 |
2 | g.15218849A>G | CA345884305 | NBAS | c.4342T>C c.4426+13573T>C c.867T>C c.2212T>C c.6356T>C (p.Leu2119Pro) c.512+13573T>C (n.512+13573T>C) c.3499T>C n.6280+13573T>C c.6227T>C (p.Leu2076Pro) c.5717T>C (p.Leu1906Pro) c.4157T>C (p.Leu1386Pro) c.4148T>C (p.Leu1383Pro) n.6266+13573T>C | |
2 | g.15218849A>T | CA345884297 | NBAS | c.4342T>A c.4426+13573T>A c.867T>A c.2212T>A c.6356T>A (p.Leu2119Gln) c.512+13573T>A (n.512+13573T>A) c.3499T>A n.6280+13573T>A c.6227T>A (p.Leu2076Gln) c.5717T>A (p.Leu1906Gln) c.4157T>A (p.Leu1386Gln) c.4148T>A (p.Leu1383Gln) n.6266+13573T>A | |
2 | g.15218850G>A | CA1535027 | NBAS | c.4341C>T c.4426+13572C>T c.866C>T c.2211C>T c.6355C>T (p.Leu2119=) c.512+13572C>T (n.512+13572C>T) c.3498C>T n.6280+13572C>T c.6226C>T (p.Leu2076=) c.5716C>T (p.Leu1906=) c.4156C>T (p.Leu1386=) c.4147C>T (p.Leu1383=) n.6266+13572C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218850G>C | CA1535028 | NBAS | c.4341C>G c.4426+13572C>G c.866C>G c.2211C>G c.6355C>G (p.Leu2119Val) c.512+13572C>G (n.512+13572C>G) c.3498C>G n.6280+13572C>G c.6226C>G (p.Leu2076Val) c.5716C>G (p.Leu1906Val) c.4156C>G (p.Leu1386Val) c.4147C>G (p.Leu1383Val) n.6266+13572C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15218850G= | CA2490796209 | NBAS | c.4341C= c.4426+13572C= c.866C= c.2211C= c.6355C= (p.Leu2119=) c.512+13572C= (n.512+13572C=) c.3498C= n.6280+13572C= c.6226C= (p.Leu2076=) c.5716C= (p.Leu1906=) c.4156C= (p.Leu1386=) c.4147C= (p.Leu1383=) n.6266+13572C= | |
2 | g.15218850G>T | CA345884310 | NBAS | c.4341C>A c.4426+13572C>A c.866C>A c.2211C>A c.6355C>A (p.Leu2119Met) c.512+13572C>A (n.512+13572C>A) c.3498C>A n.6280+13572C>A c.6226C>A (p.Leu2076Met) c.5716C>A (p.Leu1906Met) c.4156C>A (p.Leu1386Met) c.4147C>A (p.Leu1383Met) n.6266+13572C>A | |
2 | g.15218851G>A | CA1535029 | NBAS | c.4340C>T c.4426+13571C>T c.865C>T c.2210C>T c.6354C>T (p.His2118=) c.512+13571C>T (n.512+13571C>T) c.3497C>T n.6280+13571C>T c.6225C>T (p.His2075=) c.5715C>T (p.His1905=) c.4155C>T (p.His1385=) c.4146C>T (p.His1382=) n.6266+13571C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218851G>C | CA345884329 | NBAS | c.4340C>G c.4426+13571C>G c.865C>G c.2210C>G c.6354C>G (p.His2118Gln) c.512+13571C>G (n.512+13571C>G) c.3497C>G n.6280+13571C>G c.6225C>G (p.His2075Gln) c.5715C>G (p.His1905Gln) c.4155C>G (p.His1385Gln) c.4146C>G (p.His1382Gln) n.6266+13571C>G | |
2 | g.15218851G= | CA2490796210 | NBAS | c.4340C= c.4426+13571C= c.865C= c.2210C= c.6354C= (p.His2118=) c.512+13571C= (n.512+13571C=) c.3497C= n.6280+13571C= c.6225C= (p.His2075=) c.5715C= (p.His1905=) c.4155C= (p.His1385=) c.4146C= (p.His1382=) n.6266+13571C= | |
2 | g.15218851G>T | CA345884332 | NBAS | c.4340C>A c.4426+13571C>A c.865C>A c.2210C>A c.6354C>A (p.His2118Gln) c.512+13571C>A (n.512+13571C>A) c.3497C>A n.6280+13571C>A c.6225C>A (p.His2075Gln) c.5715C>A (p.His1905Gln) c.4155C>A (p.His1385Gln) c.4146C>A (p.His1382Gln) n.6266+13571C>A | |
2 | g.15218852T>A | CA345884335 | NBAS | c.4339A>T c.4426+13570A>T c.864A>T c.2209A>T c.6353A>T (p.His2118Leu) c.512+13570A>T (n.512+13570A>T) c.3496A>T n.6280+13570A>T c.6224A>T (p.His2075Leu) c.5714A>T (p.His1905Leu) c.4154A>T (p.His1385Leu) c.4145A>T (p.His1382Leu) n.6266+13570A>T | |
2 | g.15218852T>C | CA345884350 | NBAS | c.4339A>G c.4426+13570A>G c.864A>G c.2209A>G c.6353A>G (p.His2118Arg) c.512+13570A>G (n.512+13570A>G) c.3496A>G n.6280+13570A>G c.6224A>G (p.His2075Arg) c.5714A>G (p.His1905Arg) c.4154A>G (p.His1385Arg) c.4145A>G (p.His1382Arg) n.6266+13570A>G | |
2 | g.15218852T>G | CA345884354 | NBAS | c.4339A>C c.4426+13570A>C c.864A>C c.2209A>C c.6353A>C (p.His2118Pro) c.512+13570A>C (n.512+13570A>C) c.3496A>C n.6280+13570A>C c.6224A>C (p.His2075Pro) c.5714A>C (p.His1905Pro) c.4154A>C (p.His1385Pro) c.4145A>C (p.His1382Pro) n.6266+13570A>C | |
2 | g.15218853G>A | CA345884357 | NBAS | c.4338C>T c.4426+13569C>T c.863C>T c.2208C>T c.6352C>T (p.His2118Tyr) c.512+13569C>T (n.512+13569C>T) c.3495C>T n.6280+13569C>T c.6223C>T (p.His2075Tyr) c.5713C>T (p.His1905Tyr) c.4153C>T (p.His1385Tyr) c.4144C>T (p.His1382Tyr) n.6266+13569C>T | ClinVar |
2 | g.15218853G>C | CA345884359 | NBAS | c.4338C>G c.4426+13569C>G c.863C>G c.2208C>G c.6352C>G (p.His2118Asp) c.512+13569C>G (n.512+13569C>G) c.3495C>G n.6280+13569C>G c.6223C>G (p.His2075Asp) c.5713C>G (p.His1905Asp) c.4153C>G (p.His1385Asp) c.4144C>G (p.His1382Asp) n.6266+13569C>G | |
2 | g.15218853G>T | CA345884361 | NBAS | c.4338C>A c.4426+13569C>A c.863C>A c.2208C>A c.6352C>A (p.His2118Asn) c.512+13569C>A (n.512+13569C>A) c.3495C>A n.6280+13569C>A c.6223C>A (p.His2075Asn) c.5713C>A (p.His1905Asn) c.4153C>A (p.His1385Asn) c.4144C>A (p.His1382Asn) n.6266+13569C>A | |
2 | g.15218854A>C | CA345884363 | NBAS | c.4337T>G c.4426+13568T>G c.862T>G c.2207T>G c.6351T>G (p.Phe2117Leu) c.512+13568T>G (n.512+13568T>G) c.3494T>G n.6280+13568T>G c.6222T>G (p.Phe2074Leu) c.5712T>G (p.Phe1904Leu) c.4152T>G (p.Phe1384Leu) c.4143T>G (p.Phe1381Leu) n.6266+13568T>G | |
2 | g.15218854A>G | CA424866942 | NBAS | c.4337T>C c.4426+13568T>C c.862T>C c.2207T>C c.6351T>C (p.Phe2117=) c.512+13568T>C (n.512+13568T>C) c.3494T>C n.6280+13568T>C c.6222T>C (p.Phe2074=) c.5712T>C (p.Phe1904=) c.4152T>C (p.Phe1384=) c.4143T>C (p.Phe1381=) n.6266+13568T>C | |
2 | g.15218854A>T | CA345884367 | NBAS | c.4337T>A c.4426+13568T>A c.862T>A c.2207T>A c.6351T>A (p.Phe2117Leu) c.512+13568T>A (n.512+13568T>A) c.3494T>A n.6280+13568T>A c.6222T>A (p.Phe2074Leu) c.5712T>A (p.Phe1904Leu) c.4152T>A (p.Phe1384Leu) c.4143T>A (p.Phe1381Leu) n.6266+13568T>A | |
2 | g.15218855A= | CA2490796211 | NBAS | c.4336T= c.4426+13567T= c.861T= c.2206T= c.6350T= (p.Phe2117=) c.512+13567T= (n.512+13567T=) c.3493T= n.6280+13567T= c.6221T= (p.Phe2074=) c.5711T= (p.Phe1904=) c.4151T= (p.Phe1384=) c.4142T= (p.Phe1381=) n.6266+13567T= | |
2 | g.15218855A>C | CA345884377 | NBAS | c.4336T>G c.4426+13567T>G c.861T>G c.2206T>G c.6350T>G (p.Phe2117Cys) c.512+13567T>G (n.512+13567T>G) c.3493T>G n.6280+13567T>G c.6221T>G (p.Phe2074Cys) c.5711T>G (p.Phe1904Cys) c.4151T>G (p.Phe1384Cys) c.4142T>G (p.Phe1381Cys) n.6266+13567T>G | |
2 | g.15218855A>G | CA345884380 | NBAS | c.4336T>C c.4426+13567T>C c.861T>C c.2206T>C c.6350T>C (p.Phe2117Ser) c.512+13567T>C (n.512+13567T>C) c.3493T>C n.6280+13567T>C c.6221T>C (p.Phe2074Ser) c.5711T>C (p.Phe1904Ser) c.4151T>C (p.Phe1384Ser) c.4142T>C (p.Phe1381Ser) n.6266+13567T>C | dbSNP |
2 | g.15218855A>T | CA345884387 | NBAS | c.4336T>A c.4426+13567T>A c.861T>A c.2206T>A c.6350T>A (p.Phe2117Tyr) c.512+13567T>A (n.512+13567T>A) c.3493T>A n.6280+13567T>A c.6221T>A (p.Phe2074Tyr) c.5711T>A (p.Phe1904Tyr) c.4151T>A (p.Phe1384Tyr) c.4142T>A (p.Phe1381Tyr) n.6266+13567T>A | |
2 | g.15218856A>C | CA345884390 | NBAS | c.4335T>G c.4426+13566T>G c.860T>G c.2205T>G c.6349T>G (p.Phe2117Val) c.512+13566T>G (n.512+13566T>G) c.3492T>G n.6280+13566T>G c.6220T>G (p.Phe2074Val) c.5710T>G (p.Phe1904Val) c.4150T>G (p.Phe1384Val) c.4141T>G (p.Phe1381Val) n.6266+13566T>G | |
2 | g.15218856A>G | CA345884393 | NBAS | c.4335T>C c.4426+13566T>C c.860T>C c.2205T>C c.6349T>C (p.Phe2117Leu) c.512+13566T>C (n.512+13566T>C) c.3492T>C n.6280+13566T>C c.6220T>C (p.Phe2074Leu) c.5710T>C (p.Phe1904Leu) c.4150T>C (p.Phe1384Leu) c.4141T>C (p.Phe1381Leu) n.6266+13566T>C | |
2 | g.15218856A>T | CA345884395 | NBAS | c.4335T>A c.4426+13566T>A c.860T>A c.2205T>A c.6349T>A (p.Phe2117Ile) c.512+13566T>A (n.512+13566T>A) c.3492T>A n.6280+13566T>A c.6220T>A (p.Phe2074Ile) c.5710T>A (p.Phe1904Ile) c.4150T>A (p.Phe1384Ile) c.4141T>A (p.Phe1381Ile) n.6266+13566T>A | |
2 | g.15218857T>A | CA424866943 | NBAS | c.4334A>T c.4426+13565A>T c.859A>T c.2204A>T c.6348A>T (p.Ser2116=) c.512+13565A>T (n.512+13565A>T) c.3491A>T n.6280+13565A>T c.6219A>T (p.Ser2073=) c.5709A>T (p.Ser1903=) c.4149A>T (p.Ser1383=) c.4140A>T (p.Ser1380=) n.6266+13565A>T | |
2 | g.15218857T>C | CA424866944 | NBAS | c.4334A>G c.4426+13565A>G c.859A>G c.2204A>G c.6348A>G (p.Ser2116=) c.512+13565A>G (n.512+13565A>G) c.3491A>G n.6280+13565A>G c.6219A>G (p.Ser2073=) c.5709A>G (p.Ser1903=) c.4149A>G (p.Ser1383=) c.4140A>G (p.Ser1380=) n.6266+13565A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15218857T>G | CA424866945 | NBAS | c.4334A>C c.4426+13565A>C c.859A>C c.2204A>C c.6348A>C (p.Ser2116=) c.512+13565A>C (n.512+13565A>C) c.3491A>C n.6280+13565A>C c.6219A>C (p.Ser2073=) c.5709A>C (p.Ser1903=) c.4149A>C (p.Ser1383=) c.4140A>C (p.Ser1380=) n.6266+13565A>C | |
2 | g.15218857T= | CA2490796212 | NBAS | c.4334A= c.4426+13565A= c.859A= c.2204A= c.6348A= (p.Ser2116=) c.512+13565A= (n.512+13565A=) c.3491A= n.6280+13565A= c.6219A= (p.Ser2073=) c.5709A= (p.Ser1903=) c.4149A= (p.Ser1383=) c.4140A= (p.Ser1380=) n.6266+13565A= | |
2 | g.15218858G>A | CA345884402 | NBAS | c.4333C>T c.4426+13564C>T c.858C>T c.2203C>T c.6347C>T (p.Ser2116Leu) c.512+13564C>T (n.512+13564C>T) c.3490C>T n.6280+13564C>T c.6218C>T (p.Ser2073Leu) c.5708C>T (p.Ser1903Leu) c.4148C>T (p.Ser1383Leu) c.4139C>T (p.Ser1380Leu) n.6266+13564C>T | dbSNP gnomAD v2 |
2 | g.15218858G>C | CA345884404 | NBAS | c.4333C>G c.4426+13564C>G c.858C>G c.2203C>G c.6347C>G (p.Ser2116Ter) c.512+13564C>G (n.512+13564C>G) c.3490C>G n.6280+13564C>G c.6218C>G (p.Ser2073Ter) c.5708C>G (p.Ser1903Ter) c.4148C>G (p.Ser1383Ter) c.4139C>G (p.Ser1380Ter) n.6266+13564C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15218858G= | CA2490796213 | NBAS | c.4333C= c.4426+13564C= c.858C= c.2203C= c.6347C= (p.Ser2116=) c.512+13564C= (n.512+13564C=) c.3490C= n.6280+13564C= c.6218C= (p.Ser2073=) c.5708C= (p.Ser1903=) c.4148C= (p.Ser1383=) c.4139C= (p.Ser1380=) n.6266+13564C= | |
2 | g.15218858G>T | CA345884406 | NBAS | c.4333C>A c.4426+13564C>A c.858C>A c.2203C>A c.6347C>A (p.Ser2116Ter) c.512+13564C>A (n.512+13564C>A) c.3490C>A n.6280+13564C>A c.6218C>A (p.Ser2073Ter) c.5708C>A (p.Ser1903Ter) c.4148C>A (p.Ser1383Ter) c.4139C>A (p.Ser1380Ter) n.6266+13564C>A | |
2 | g.15218859A>C | CA345884408 | NBAS | c.4332T>G c.4426+13563T>G c.857T>G c.2202T>G c.6346T>G (p.Ser2116Ala) c.512+13563T>G (n.512+13563T>G) c.3489T>G n.6280+13563T>G c.6217T>G (p.Ser2073Ala) c.5707T>G (p.Ser1903Ala) c.4147T>G (p.Ser1383Ala) c.4138T>G (p.Ser1380Ala) n.6266+13563T>G | |
2 | g.15218859A>G | CA345884410 | NBAS | c.4332T>C c.4426+13563T>C c.857T>C c.2202T>C c.6346T>C (p.Ser2116Pro) c.512+13563T>C (n.512+13563T>C) c.3489T>C n.6280+13563T>C c.6217T>C (p.Ser2073Pro) c.5707T>C (p.Ser1903Pro) c.4147T>C (p.Ser1383Pro) c.4138T>C (p.Ser1380Pro) n.6266+13563T>C | |
2 | g.15218859A>T | CA345884413 | NBAS | c.4332T>A c.4426+13563T>A c.857T>A c.2202T>A c.6346T>A (p.Ser2116Thr) c.512+13563T>A (n.512+13563T>A) c.3489T>A n.6280+13563T>A c.6217T>A (p.Ser2073Thr) c.5707T>A (p.Ser1903Thr) c.4147T>A (p.Ser1383Thr) c.4138T>A (p.Ser1380Thr) n.6266+13563T>A | |
2 | g.15218860T>A | CA345884422 | NBAS | c.4331A>T c.4426+13562A>T c.856A>T c.2201A>T c.6345A>T (p.Gln2115His) c.512+13562A>T (n.512+13562A>T) c.3488A>T n.6280+13562A>T c.6216A>T (p.Gln2072His) c.5706A>T (p.Gln1902His) c.4146A>T (p.Gln1382His) c.4137A>T (p.Gln1379His) n.6266+13562A>T | |
2 | g.15218860T>C | CA1535030 | NBAS | c.4331A>G c.4426+13562A>G c.856A>G c.2201A>G c.6345A>G (p.Gln2115=) c.512+13562A>G (n.512+13562A>G) c.3488A>G n.6280+13562A>G c.6216A>G (p.Gln2072=) c.5706A>G (p.Gln1902=) c.4146A>G (p.Gln1382=) c.4137A>G (p.Gln1379=) n.6266+13562A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218860T>G | CA345884425 | NBAS | c.4331A>C c.4426+13562A>C c.856A>C c.2201A>C c.6345A>C (p.Gln2115His) c.512+13562A>C (n.512+13562A>C) c.3488A>C n.6280+13562A>C c.6216A>C (p.Gln2072His) c.5706A>C (p.Gln1902His) c.4146A>C (p.Gln1382His) c.4137A>C (p.Gln1379His) n.6266+13562A>C | |
2 | g.15218860T= | CA2490796214 | NBAS | c.4331A= c.4426+13562A= c.856A= c.2201A= c.6345A= (p.Gln2115=) c.512+13562A= (n.512+13562A=) c.3488A= n.6280+13562A= c.6216A= (p.Gln2072=) c.5706A= (p.Gln1902=) c.4146A= (p.Gln1382=) c.4137A= (p.Gln1379=) n.6266+13562A= | |
2 | g.15218861T>A | CA345884435 | NBAS | c.4330A>T c.4426+13561A>T c.855A>T c.2200A>T c.6344A>T (p.Gln2115Leu) c.512+13561A>T (n.512+13561A>T) c.3487A>T n.6280+13561A>T c.6215A>T (p.Gln2072Leu) c.5705A>T (p.Gln1902Leu) c.4145A>T (p.Gln1382Leu) c.4136A>T (p.Gln1379Leu) n.6266+13561A>T | |
2 | g.15218861T>C | CA42584389 | NBAS | c.4330A>G c.4426+13561A>G c.855A>G c.2200A>G c.6344A>G (p.Gln2115Arg) c.512+13561A>G (n.512+13561A>G) c.3487A>G n.6280+13561A>G c.6215A>G (p.Gln2072Arg) c.5705A>G (p.Gln1902Arg) c.4145A>G (p.Gln1382Arg) c.4136A>G (p.Gln1379Arg) n.6266+13561A>G | dbSNP gnomAD v4 |
2 | g.15218861T>G | CA345884440 | NBAS | c.4330A>C c.4426+13561A>C c.855A>C c.2200A>C c.6344A>C (p.Gln2115Pro) c.512+13561A>C (n.512+13561A>C) c.3487A>C n.6280+13561A>C c.6215A>C (p.Gln2072Pro) c.5705A>C (p.Gln1902Pro) c.4145A>C (p.Gln1382Pro) c.4136A>C (p.Gln1379Pro) n.6266+13561A>C | |
2 | g.15218861T= | CA2490796215 | NBAS | c.4330A= c.4426+13561A= c.855A= c.2200A= c.6344A= (p.Gln2115=) c.512+13561A= (n.512+13561A=) c.3487A= n.6280+13561A= c.6215A= (p.Gln2072=) c.5705A= (p.Gln1902=) c.4145A= (p.Gln1382=) c.4136A= (p.Gln1379=) n.6266+13561A= | |
2 | g.15218862G>A | CA345884441 | NBAS | c.4329C>T c.4426+13560C>T c.854C>T c.2199C>T c.6343C>T (p.Gln2115Ter) c.512+13560C>T (n.512+13560C>T) c.3486C>T n.6280+13560C>T c.6214C>T (p.Gln2072Ter) c.5704C>T (p.Gln1902Ter) c.4144C>T (p.Gln1382Ter) c.4135C>T (p.Gln1379Ter) n.6266+13560C>T | |
2 | g.15218862G>C | CA345884442 | NBAS | c.4329C>G c.4426+13560C>G c.854C>G c.2199C>G c.6343C>G (p.Gln2115Glu) c.512+13560C>G (n.512+13560C>G) c.3486C>G n.6280+13560C>G c.6214C>G (p.Gln2072Glu) c.5704C>G (p.Gln1902Glu) c.4144C>G (p.Gln1382Glu) c.4135C>G (p.Gln1379Glu) n.6266+13560C>G | |
2 | g.15218862G>T | CA345884443 | NBAS | c.4329C>A c.4426+13560C>A c.854C>A c.2199C>A c.6343C>A (p.Gln2115Lys) c.512+13560C>A (n.512+13560C>A) c.3486C>A n.6280+13560C>A c.6214C>A (p.Gln2072Lys) c.5704C>A (p.Gln1902Lys) c.4144C>A (p.Gln1382Lys) c.4135C>A (p.Gln1379Lys) n.6266+13560C>A | COSMIC |
2 | g.15218863C>A | CA1535031 | NBAS | c.4328G>T c.4426+13559G>T c.853G>T c.2198G>T c.6342G>T (p.Gly2114=) c.512+13559G>T (n.512+13559G>T) c.3485G>T n.6280+13559G>T c.6213G>T (p.Gly2071=) c.5703G>T (p.Gly1901=) c.4143G>T (p.Gly1381=) c.4134G>T (p.Gly1378=) n.6266+13559G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218863C= | CA2490796216 | NBAS | c.4328G= c.4426+13559G= c.853G= c.2198G= c.6342G= (p.Gly2114=) c.512+13559G= (n.512+13559G=) c.3485G= n.6280+13559G= c.6213G= (p.Gly2071=) c.5703G= (p.Gly1901=) c.4143G= (p.Gly1381=) c.4134G= (p.Gly1378=) n.6266+13559G= | |
2 | g.15218863C>G | CA424866946 | NBAS | c.4328G>C c.4426+13559G>C c.853G>C c.2198G>C c.6342G>C (p.Gly2114=) c.512+13559G>C (n.512+13559G>C) c.3485G>C n.6280+13559G>C c.6213G>C (p.Gly2071=) c.5703G>C (p.Gly1901=) c.4143G>C (p.Gly1381=) c.4134G>C (p.Gly1378=) n.6266+13559G>C | |
2 | g.15218863C>T | CA424866947 | NBAS | c.4328G>A c.4426+13559G>A c.853G>A c.2198G>A c.6342G>A (p.Gly2114=) c.512+13559G>A (n.512+13559G>A) c.3485G>A n.6280+13559G>A c.6213G>A (p.Gly2071=) c.5703G>A (p.Gly1901=) c.4143G>A (p.Gly1381=) c.4134G>A (p.Gly1378=) n.6266+13559G>A | gnomAD v4 |
2 | g.15218864C>A | CA345884452 | NBAS | c.4327G>T c.4426+13558G>T c.852G>T c.2197G>T c.6341G>T (p.Gly2114Val) c.512+13558G>T (n.512+13558G>T) c.3484G>T n.6280+13558G>T c.6212G>T (p.Gly2071Val) c.5702G>T (p.Gly1901Val) c.4142G>T (p.Gly1381Val) c.4133G>T (p.Gly1378Val) n.6266+13558G>T | |
2 | g.15218864C>G | CA345884455 | NBAS | c.4327G>C c.4426+13558G>C c.852G>C c.2197G>C c.6341G>C (p.Gly2114Ala) c.512+13558G>C (n.512+13558G>C) c.3484G>C n.6280+13558G>C c.6212G>C (p.Gly2071Ala) c.5702G>C (p.Gly1901Ala) c.4142G>C (p.Gly1381Ala) c.4133G>C (p.Gly1378Ala) n.6266+13558G>C | |
2 | g.15218864C>T | CA345884486 | NBAS | c.4327G>A c.4426+13558G>A c.852G>A c.2197G>A c.6341G>A (p.Gly2114Glu) c.512+13558G>A (n.512+13558G>A) c.3484G>A n.6280+13558G>A c.6212G>A (p.Gly2071Glu) c.5702G>A (p.Gly1901Glu) c.4142G>A (p.Gly1381Glu) c.4133G>A (p.Gly1378Glu) n.6266+13558G>A | gnomAD v4 |
2 | g.15218865C>A | CA345884491 | NBAS | c.4326G>T c.4426+13557G>T c.851G>T c.2196G>T c.6340G>T (p.Gly2114Trp) c.512+13557G>T (n.512+13557G>T) c.3483G>T n.6280+13557G>T c.6211G>T (p.Gly2071Trp) c.5701G>T (p.Gly1901Trp) c.4141G>T (p.Gly1381Trp) c.4132G>T (p.Gly1378Trp) n.6266+13557G>T | |
2 | g.15218865C= | CA2490796217 | NBAS | c.4326G= c.4426+13557G= c.851G= c.2196G= c.6340G= (p.Gly2114=) c.512+13557G= (n.512+13557G=) c.3483G= n.6280+13557G= c.6211G= (p.Gly2071=) c.5701G= (p.Gly1901=) c.4141G= (p.Gly1381=) c.4132G= (p.Gly1378=) n.6266+13557G= | |
2 | g.15218865C>G | CA345884498 | NBAS | c.4326G>C c.4426+13557G>C c.851G>C c.2196G>C c.6340G>C (p.Gly2114Arg) c.512+13557G>C (n.512+13557G>C) c.3483G>C n.6280+13557G>C c.6211G>C (p.Gly2071Arg) c.5701G>C (p.Gly1901Arg) c.4141G>C (p.Gly1381Arg) c.4132G>C (p.Gly1378Arg) n.6266+13557G>C | ClinVar dbSNP gnomAD v2 |
2 | g.15218865C>T | CA345884507 | NBAS | c.4326G>A c.4426+13557G>A c.851G>A c.2196G>A c.6340G>A (p.Gly2114Arg) c.512+13557G>A (n.512+13557G>A) c.3483G>A n.6280+13557G>A c.6211G>A (p.Gly2071Arg) c.5701G>A (p.Gly1901Arg) c.4141G>A (p.Gly1381Arg) c.4132G>A (p.Gly1378Arg) n.6266+13557G>A | COSMIC |
2 | g.15218866C>A | CA345884517 | NBAS | c.4325G>T c.4426+13556G>T c.850G>T c.2195G>T c.6339G>T (p.Leu2113Phe) c.512+13556G>T (n.512+13556G>T) c.3482G>T n.6280+13556G>T c.6210G>T (p.Leu2070Phe) c.5700G>T (p.Leu1900Phe) c.4140G>T (p.Leu1380Phe) c.4131G>T (p.Leu1377Phe) n.6266+13556G>T | |
2 | g.15218866C= | CA2490796218 | NBAS | c.4325G= c.4426+13556G= c.850G= c.2195G= c.6339G= (p.Leu2113=) c.512+13556G= (n.512+13556G=) c.3482G= n.6280+13556G= c.6210G= (p.Leu2070=) c.5700G= (p.Leu1900=) c.4140G= (p.Leu1380=) c.4131G= (p.Leu1377=) n.6266+13556G= | |
2 | g.15218866C>G | CA345884520 | NBAS | c.4325G>C c.4426+13556G>C c.850G>C c.2195G>C c.6339G>C (p.Leu2113Phe) c.512+13556G>C (n.512+13556G>C) c.3482G>C n.6280+13556G>C c.6210G>C (p.Leu2070Phe) c.5700G>C (p.Leu1900Phe) c.4140G>C (p.Leu1380Phe) c.4131G>C (p.Leu1377Phe) n.6266+13556G>C | |
2 | g.15218866C>T | CA1535032 | NBAS | c.4325G>A c.4426+13556G>A c.850G>A c.2195G>A c.6339G>A (p.Leu2113=) c.512+13556G>A (n.512+13556G>A) c.3482G>A n.6280+13556G>A c.6210G>A (p.Leu2070=) c.5700G>A (p.Leu1900=) c.4140G>A (p.Leu1380=) c.4131G>A (p.Leu1377=) n.6266+13556G>A | dbSNP ExAC gnomAD v2 |
2 | g.15218867A>C | CA345884525 | NBAS | c.4324T>G c.4426+13555T>G c.849T>G c.2194T>G c.6338T>G (p.Leu2113Trp) c.512+13555T>G (n.512+13555T>G) c.3481T>G n.6280+13555T>G c.6209T>G (p.Leu2070Trp) c.5699T>G (p.Leu1900Trp) c.4139T>G (p.Leu1380Trp) c.4130T>G (p.Leu1377Trp) n.6266+13555T>G | ClinVar dbSNP gnomAD v4 |
2 | g.15218867A>G | CA345884538 | NBAS | c.4324T>C c.4426+13555T>C c.849T>C c.2194T>C c.6338T>C (p.Leu2113Ser) c.512+13555T>C (n.512+13555T>C) c.3481T>C n.6280+13555T>C c.6209T>C (p.Leu2070Ser) c.5699T>C (p.Leu1900Ser) c.4139T>C (p.Leu1380Ser) c.4130T>C (p.Leu1377Ser) n.6266+13555T>C | |
2 | g.15218867A>T | CA345884533 | NBAS | c.4324T>A c.4426+13555T>A c.849T>A c.2194T>A c.6338T>A (p.Leu2113Ter) c.512+13555T>A (n.512+13555T>A) c.3481T>A n.6280+13555T>A c.6209T>A (p.Leu2070Ter) c.5699T>A (p.Leu1900Ter) c.4139T>A (p.Leu1380Ter) c.4130T>A (p.Leu1377Ter) n.6266+13555T>A | |
2 | g.15218870del | CA2576680241 | NBAS | c.4324del c.4426+13555del c.849del c.2194del c.6338del (p.Leu2113TrpfsTer7) c.512+13555del (n.512+13555del) c.3481del n.6280+13555del c.6209del (p.Leu2070TrpfsTer7) c.5699del (p.Leu1900TrpfsTer7) c.4139del (p.Leu1380TrpfsTer7) c.4130del (p.Leu1377TrpfsTer7) n.6266+13555del | |
2 | g.15218868A= | CA2490796219 | NBAS | c.4323T= c.4426+13554T= c.848T= c.2193T= c.6337T= (p.Leu2113=) c.512+13554T= (n.512+13554T=) c.3480T= n.6280+13554T= c.6208T= (p.Leu2070=) c.5698T= (p.Leu1900=) c.4138T= (p.Leu1380=) c.4129T= (p.Leu1377=) n.6266+13554T= | |
2 | g.15218868A>C | CA345884542 | NBAS | c.4323T>G c.4426+13554T>G c.848T>G c.2193T>G c.6337T>G (p.Leu2113Val) c.512+13554T>G (n.512+13554T>G) c.3480T>G n.6280+13554T>G c.6208T>G (p.Leu2070Val) c.5698T>G (p.Leu1900Val) c.4138T>G (p.Leu1380Val) c.4129T>G (p.Leu1377Val) n.6266+13554T>G | |
2 | g.15218868A>G | CA1535033 | NBAS | c.4323T>C c.4426+13554T>C c.848T>C c.2193T>C c.6337T>C (p.Leu2113=) c.512+13554T>C (n.512+13554T>C) c.3480T>C n.6280+13554T>C c.6208T>C (p.Leu2070=) c.5698T>C (p.Leu1900=) c.4138T>C (p.Leu1380=) c.4129T>C (p.Leu1377=) n.6266+13554T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.15218868A>T | CA345884545 | NBAS | c.4323T>A c.4426+13554T>A c.848T>A c.2193T>A c.6337T>A (p.Leu2113Met) c.512+13554T>A (n.512+13554T>A) c.3480T>A n.6280+13554T>A c.6208T>A (p.Leu2070Met) c.5698T>A (p.Leu1900Met) c.4138T>A (p.Leu1380Met) c.4129T>A (p.Leu1377Met) n.6266+13554T>A | |
2 | g.15218869A>C | CA345884550 | NBAS | c.4322T>G c.4426+13553T>G c.847T>G c.2192T>G c.6336T>G (p.Ile2112Met) c.512+13553T>G (n.512+13553T>G) c.3479T>G n.6280+13553T>G c.6207T>G (p.Ile2069Met) c.5697T>G (p.Ile1899Met) c.4137T>G (p.Ile1379Met) c.4128T>G (p.Ile1376Met) n.6266+13553T>G | |
2 | g.15218869A>G | CA424866948 | NBAS | c.4322T>C c.4426+13553T>C c.847T>C c.2192T>C c.6336T>C (p.Ile2112=) c.512+13553T>C (n.512+13553T>C) c.3479T>C n.6280+13553T>C c.6207T>C (p.Ile2069=) c.5697T>C (p.Ile1899=) c.4137T>C (p.Ile1379=) c.4128T>C (p.Ile1376=) n.6266+13553T>C | |
2 | g.15218869A>T | CA424866949 | NBAS | c.4322T>A c.4426+13553T>A c.847T>A c.2192T>A c.6336T>A (p.Ile2112=) c.512+13553T>A (n.512+13553T>A) c.3479T>A n.6280+13553T>A c.6207T>A (p.Ile2069=) c.5697T>A (p.Ile1899=) c.4137T>A (p.Ile1379=) c.4128T>A (p.Ile1376=) n.6266+13553T>A | |
2 | g.15218870A>C | CA345884551 | NBAS | c.4321T>G c.4426+13552T>G c.846T>G c.2191T>G c.6335T>G (p.Ile2112Ser) c.512+13552T>G (n.512+13552T>G) c.3478T>G n.6280+13552T>G c.6206T>G (p.Ile2069Ser) c.5696T>G (p.Ile1899Ser) c.4136T>G (p.Ile1379Ser) c.4127T>G (p.Ile1376Ser) n.6266+13552T>G | |
2 | g.15218870A>G | CA345884555 | NBAS | c.4321T>C c.4426+13552T>C c.846T>C c.2191T>C c.6335T>C (p.Ile2112Thr) c.512+13552T>C (n.512+13552T>C) c.3478T>C n.6280+13552T>C c.6206T>C (p.Ile2069Thr) c.5696T>C (p.Ile1899Thr) c.4136T>C (p.Ile1379Thr) c.4127T>C (p.Ile1376Thr) n.6266+13552T>C | |
2 | g.15218870A>T | CA345884557 | NBAS | c.4321T>A c.4426+13552T>A c.846T>A c.2191T>A c.6335T>A (p.Ile2112Asn) c.512+13552T>A (n.512+13552T>A) c.3478T>A n.6280+13552T>A c.6206T>A (p.Ile2069Asn) c.5696T>A (p.Ile1899Asn) c.4136T>A (p.Ile1379Asn) c.4127T>A (p.Ile1376Asn) n.6266+13552T>A | |
2 | g.15218871T>A | CA345884561 | NBAS | c.4320A>T c.4426+13551A>T c.845A>T c.2190A>T c.6334A>T (p.Ile2112Phe) c.512+13551A>T (n.512+13551A>T) c.3477A>T n.6280+13551A>T c.6205A>T (p.Ile2069Phe) c.5695A>T (p.Ile1899Phe) c.4135A>T (p.Ile1379Phe) c.4126A>T (p.Ile1376Phe) n.6266+13551A>T | |
2 | g.15218871T>C | CA345884562 | NBAS | c.4320A>G c.4426+13551A>G c.845A>G c.2190A>G c.6334A>G (p.Ile2112Val) c.512+13551A>G (n.512+13551A>G) c.3477A>G n.6280+13551A>G c.6205A>G (p.Ile2069Val) c.5695A>G (p.Ile1899Val) c.4135A>G (p.Ile1379Val) c.4126A>G (p.Ile1376Val) n.6266+13551A>G | |
2 | g.15218871T>G | CA345884563 | NBAS | c.4320A>C c.4426+13551A>C c.845A>C c.2190A>C c.6334A>C (p.Ile2112Leu) c.512+13551A>C (n.512+13551A>C) c.3477A>C n.6280+13551A>C c.6205A>C (p.Ile2069Leu) c.5695A>C (p.Ile1899Leu) c.4135A>C (p.Ile1379Leu) c.4126A>C (p.Ile1376Leu) n.6266+13551A>C | |
2 | g.15218872C>A | CA345884564 | NBAS | c.4319G>T c.4426+13550G>T c.844G>T c.2189G>T c.6333G>T (p.Gln2111His) c.512+13550G>T (n.512+13550G>T) c.3476G>T n.6280+13550G>T c.6204G>T (p.Gln2068His) c.5694G>T (p.Gln1898His) c.4134G>T (p.Gln1378His) c.4125G>T (p.Gln1375His) n.6266+13550G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15218872C= | CA2490796220 | NBAS | c.4319G= c.4426+13550G= c.844G= c.2189G= c.6333G= (p.Gln2111=) c.512+13550G= (n.512+13550G=) c.3476G= n.6280+13550G= c.6204G= (p.Gln2068=) c.5694G= (p.Gln1898=) c.4134G= (p.Gln1378=) c.4125G= (p.Gln1375=) n.6266+13550G= | |
2 | g.15218872C>G | CA345884565 | NBAS | c.4319G>C c.4426+13550G>C c.844G>C c.2189G>C c.6333G>C (p.Gln2111His) c.512+13550G>C (n.512+13550G>C) c.3476G>C n.6280+13550G>C c.6204G>C (p.Gln2068His) c.5694G>C (p.Gln1898His) c.4134G>C (p.Gln1378His) c.4125G>C (p.Gln1375His) n.6266+13550G>C | gnomAD v4 |
2 | g.15218872C>T | CA424866950 | NBAS | c.4319G>A c.4426+13550G>A c.844G>A c.2189G>A c.6333G>A (p.Gln2111=) c.512+13550G>A (n.512+13550G>A) c.3476G>A n.6280+13550G>A c.6204G>A (p.Gln2068=) c.5694G>A (p.Gln1898=) c.4134G>A (p.Gln1378=) c.4125G>A (p.Gln1375=) n.6266+13550G>A | |
2 | g.15218873T>A | CA345884566 | NBAS | c.4318A>T c.4426+13549A>T c.843A>T c.2188A>T c.6332A>T (p.Gln2111Leu) c.512+13549A>T (n.512+13549A>T) c.3475A>T n.6280+13549A>T c.6203A>T (p.Gln2068Leu) c.5693A>T (p.Gln1898Leu) c.4133A>T (p.Gln1378Leu) c.4124A>T (p.Gln1375Leu) n.6266+13549A>T | |
2 | g.15218873T>C | CA345884567 | NBAS | c.4318A>G c.4426+13549A>G c.843A>G c.2188A>G c.6332A>G (p.Gln2111Arg) c.512+13549A>G (n.512+13549A>G) c.3475A>G n.6280+13549A>G c.6203A>G (p.Gln2068Arg) c.5693A>G (p.Gln1898Arg) c.4133A>G (p.Gln1378Arg) c.4124A>G (p.Gln1375Arg) n.6266+13549A>G | dbSNP |
2 | g.15218873T>G | CA345884574 | NBAS | c.4318A>C c.4426+13549A>C c.843A>C c.2188A>C c.6332A>C (p.Gln2111Pro) c.512+13549A>C (n.512+13549A>C) c.3475A>C n.6280+13549A>C c.6203A>C (p.Gln2068Pro) c.5693A>C (p.Gln1898Pro) c.4133A>C (p.Gln1378Pro) c.4124A>C (p.Gln1375Pro) n.6266+13549A>C | |
2 | g.15218873T= | CA2490796221 | NBAS | c.4318A= c.4426+13549A= c.843A= c.2188A= c.6332A= (p.Gln2111=) c.512+13549A= (n.512+13549A=) c.3475A= n.6280+13549A= c.6203A= (p.Gln2068=) c.5693A= (p.Gln1898=) c.4133A= (p.Gln1378=) c.4124A= (p.Gln1375=) n.6266+13549A= | |
2 | g.15218874G>A | CA345884581 | NBAS | c.4317C>T c.4426+13548C>T c.842C>T c.2187C>T c.6331C>T (p.Gln2111Ter) c.512+13548C>T (n.512+13548C>T) c.3474C>T n.6280+13548C>T c.6202C>T (p.Gln2068Ter) c.5692C>T (p.Gln1898Ter) c.4132C>T (p.Gln1378Ter) c.4123C>T (p.Gln1375Ter) n.6266+13548C>T | COSMIC |
2 | g.15218874G>C | CA345884584 | NBAS | c.4317C>G c.4426+13548C>G c.842C>G c.2187C>G c.6331C>G (p.Gln2111Glu) c.512+13548C>G (n.512+13548C>G) c.3474C>G n.6280+13548C>G c.6202C>G (p.Gln2068Glu) c.5692C>G (p.Gln1898Glu) c.4132C>G (p.Gln1378Glu) c.4123C>G (p.Gln1375Glu) n.6266+13548C>G | |
2 | g.15218874G= | CA2490796222 | NBAS | c.4317C= c.4426+13548C= c.842C= c.2187C= c.6331C= (p.Gln2111=) c.512+13548C= (n.512+13548C=) c.3474C= n.6280+13548C= c.6202C= (p.Gln2068=) c.5692C= (p.Gln1898=) c.4132C= (p.Gln1378=) c.4123C= (p.Gln1375=) n.6266+13548C= | |
2 | g.15218874G>T | CA1535034 | NBAS | c.4317C>A c.4426+13548C>A c.842C>A c.2187C>A c.6331C>A (p.Gln2111Lys) c.512+13548C>A (n.512+13548C>A) c.3474C>A n.6280+13548C>A c.6202C>A (p.Gln2068Lys) c.5692C>A (p.Gln1898Lys) c.4132C>A (p.Gln1378Lys) c.4123C>A (p.Gln1375Lys) n.6266+13548C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15218875C>A | CA424866953 | NBAS | c.4316G>T c.4426+13547G>T c.841G>T c.2186G>T c.6330G>T (p.Leu2110=) c.512+13547G>T (n.512+13547G>T) c.3473G>T n.6280+13547G>T c.6201G>T (p.Leu2067=) c.5691G>T (p.Leu1897=) c.4131G>T (p.Leu1377=) c.4122G>T (p.Leu1374=) n.6266+13547G>T | |
2 | g.15218875C>G | CA424866952 | NBAS | c.4316G>C c.4426+13547G>C c.841G>C c.2186G>C c.6330G>C (p.Leu2110=) c.512+13547G>C (n.512+13547G>C) c.3473G>C n.6280+13547G>C c.6201G>C (p.Leu2067=) c.5691G>C (p.Leu1897=) c.4131G>C (p.Leu1377=) c.4122G>C (p.Leu1374=) n.6266+13547G>C | |
2 | g.15218875C>T | CA424866951 | NBAS | c.4316G>A c.4426+13547G>A c.841G>A c.2186G>A c.6330G>A (p.Leu2110=) c.512+13547G>A (n.512+13547G>A) c.3473G>A n.6280+13547G>A c.6201G>A (p.Leu2067=) c.5691G>A (p.Leu1897=) c.4131G>A (p.Leu1377=) c.4122G>A (p.Leu1374=) n.6266+13547G>A | |
2 | g.15218876A>C | CA345884601 | NBAS | c.4315T>G c.4426+13546T>G c.840T>G c.2185T>G c.6329T>G (p.Leu2110Arg) c.512+13546T>G (n.512+13546T>G) c.3472T>G n.6280+13546T>G c.6200T>G (p.Leu2067Arg) c.5690T>G (p.Leu1897Arg) c.4130T>G (p.Leu1377Arg) c.4121T>G (p.Leu1374Arg) n.6266+13546T>G | |
2 | g.15218876A>G | CA345884604 | NBAS | c.4315T>C c.4426+13546T>C c.840T>C c.2185T>C c.6329T>C (p.Leu2110Pro) c.512+13546T>C (n.512+13546T>C) c.3472T>C n.6280+13546T>C c.6200T>C (p.Leu2067Pro) c.5690T>C (p.Leu1897Pro) c.4130T>C (p.Leu1377Pro) c.4121T>C (p.Leu1374Pro) n.6266+13546T>C | |
2 | g.15218876A>T | CA345884609 | NBAS | c.4315T>A c.4426+13546T>A c.840T>A c.2185T>A c.6329T>A (p.Leu2110Gln) c.512+13546T>A (n.512+13546T>A) c.3472T>A n.6280+13546T>A c.6200T>A (p.Leu2067Gln) c.5690T>A (p.Leu1897Gln) c.4130T>A (p.Leu1377Gln) c.4121T>A (p.Leu1374Gln) n.6266+13546T>A |