Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.153811991del | CA2573907399 | GATAD2B | c.1530+33del (n.1530+33del) c.17+33del c.1482+33del (n.1482+33del) c.784+33del n.254+33del | gnomAD v4 |
1 | g.153811990A= | CA1143927901 | GATAD2B | c.1530+32T= (n.1530+32T=) c.17+32T= c.1482+32T= (n.1482+32T=) c.784+32T= n.254+32T= | |
1 | g.153811990A>C | CA30755207 | GATAD2B | c.1530+32T>G (n.1530+32T>G) c.17+32T>G c.1482+32T>G (n.1482+32T>G) c.784+32T>G n.254+32T>G | dbSNP gnomAD v4 |
1 | g.153811992G>A | CA889537848 | GATAD2B | c.1530+30C>T (n.1530+30C>T) c.17+30C>T c.1482+30C>T (n.1482+30C>T) c.784+30C>T n.254+30C>T | dbSNP |
1 | g.153811992G= | CA2480600220 | GATAD2B | c.1530+30C= (n.1530+30C=) c.17+30C= c.1482+30C= (n.1482+30C=) c.784+30C= n.254+30C= | |
1 | g.153811992G>T | CA2648088545 | GATAD2B | c.1530+30C>A (n.1530+30C>A) c.17+30C>A c.1482+30C>A (n.1482+30C>A) c.784+30C>A n.254+30C>A | gnomAD v4 |
1 | g.153811993A>G | CA2604807515 | GATAD2B | c.1530+29T>C (n.1530+29T>C) c.17+29T>C c.1482+29T>C (n.1482+29T>C) c.784+29T>C n.254+29T>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.153811996T>G | CA1120622 | GATAD2B | c.1530+26A>C (n.1530+26A>C) c.17+26A>C c.1482+26A>C (n.1482+26A>C) c.784+26A>C n.254+26A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.153811996T= | CA2480600221 | GATAD2B | c.1530+26A= (n.1530+26A=) c.17+26A= c.1482+26A= (n.1482+26A=) c.784+26A= n.254+26A= | |
1 | g.153811999G>C | CA2648088546 | GATAD2B | c.1530+23C>G (n.1530+23C>G) c.17+23C>G c.1482+23C>G (n.1482+23C>G) c.784+23C>G n.254+23C>G | gnomAD v4 |
1 | g.153812000del | CA2573907456 | GATAD2B | c.1530+23del (n.1530+23del) c.17+23del c.1482+23del (n.1482+23del) c.784+23del n.254+23del | gnomAD v4 |
1 | g.153812000G>C | CA526382867 | GATAD2B | c.1530+22C>G (n.1530+22C>G) c.17+22C>G c.1482+22C>G (n.1482+22C>G) c.784+22C>G n.254+22C>G | dbSNP gnomAD v2 |
1 | g.153812000G= | CA2480600222 | GATAD2B | c.1530+22C= (n.1530+22C=) c.17+22C= c.1482+22C= (n.1482+22C=) c.784+22C= n.254+22C= | |
1 | g.153812000G>T | CA1120623 | GATAD2B | c.1530+22C>A (n.1530+22C>A) c.17+22C>A c.1482+22C>A (n.1482+22C>A) c.784+22C>A n.254+22C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.153812001A>G | CA2648088548 | GATAD2B | c.1530+21T>C (n.1530+21T>C) c.17+21T>C c.1482+21T>C (n.1482+21T>C) c.784+21T>C n.254+21T>C | gnomAD v4 |
1 | g.153812001A>T | CA2648088549 | GATAD2B | c.1530+21T>A (n.1530+21T>A) c.17+21T>A c.1482+21T>A (n.1482+21T>A) c.784+21T>A n.254+21T>A | gnomAD v4 |
1 | g.153812003C>G | CA2648088550 | GATAD2B | c.1530+19G>C (n.1530+19G>C) c.17+19G>C c.1482+19G>C (n.1482+19G>C) c.784+19G>C n.254+19G>C | gnomAD v4 |
1 | g.153812003C>T | CA2648088551 | GATAD2B | c.1530+19G>A (n.1530+19G>A) c.17+19G>A c.1482+19G>A (n.1482+19G>A) c.784+19G>A n.254+19G>A | gnomAD v4 |
1 | g.153812004A>G | CA2648088552 | GATAD2B | c.1530+18T>C (n.1530+18T>C) c.17+18T>C c.1482+18T>C (n.1482+18T>C) c.784+18T>C n.254+18T>C | gnomAD v4 |
1 | g.153812005G>T | CA2573907457 | GATAD2B | c.1530+17C>A (n.1530+17C>A) c.17+17C>A c.1482+17C>A (n.1482+17C>A) c.784+17C>A n.254+17C>A | gnomAD v4 |
1 | g.153812006G>A | CA1120624 | GATAD2B | c.1530+16C>T (n.1530+16C>T) c.17+16C>T c.1482+16C>T (n.1482+16C>T) c.784+16C>T n.254+16C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.153812006G= | CA2480600223 | GATAD2B | c.1530+16C= (n.1530+16C=) c.17+16C= c.1482+16C= (n.1482+16C=) c.784+16C= n.254+16C= | |
1 | g.153812006G>T | CA2573907513 | GATAD2B | c.1530+16C>A (n.1530+16C>A) c.17+16C>A c.1482+16C>A (n.1482+16C>A) c.784+16C>A n.254+16C>A | gnomAD v4 |
1 | g.153812007C= | CA2480600224 | GATAD2B | c.1530+15G= (n.1530+15G=) c.17+15G= c.1482+15G= (n.1482+15G=) c.784+15G= n.254+15G= | |
1 | g.153812007C>T | CA1120625 | GATAD2B | c.1530+15G>A (n.1530+15G>A) c.17+15G>A c.1482+15G>A (n.1482+15G>A) c.784+15G>A n.254+15G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.153812008A= | CA1147823068 | GATAD2B | c.1530+14T= (n.1530+14T=) c.17+14T= c.1482+14T= (n.1482+14T=) c.784+14T= n.254+14T= | |
1 | g.153812008A>G | CA1120626 | GATAD2B | c.1530+14T>C (n.1530+14T>C) c.17+14T>C c.1482+14T>C (n.1482+14T>C) c.784+14T>C n.254+14T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.153812012del | CA420859359 | GATAD2B | c.1530+14del (n.1530+14del) c.17+14del c.1482+14del (n.1482+14del) c.784+14del n.254+14del | gnomAD v4 |
1 | g.153812009A= | CA2480600225 | GATAD2B | c.1530+13T= (n.1530+13T=) c.17+13T= c.1482+13T= (n.1482+13T=) c.784+13T= n.254+13T= | |
1 | g.153812009A>G | CA30755224 | GATAD2B | c.1530+13T>C (n.1530+13T>C) c.17+13T>C c.1482+13T>C (n.1482+13T>C) c.784+13T>C n.254+13T>C | dbSNP gnomAD v4 |
1 | g.153812009A>T | CA2573907593 | GATAD2B | c.1530+13T>A (n.1530+13T>A) c.17+13T>A c.1482+13T>A (n.1482+13T>A) c.784+13T>A n.254+13T>A | gnomAD v4 |
1 | g.153812010A>G | CA2511510568 | GATAD2B | c.1530+12T>C (n.1530+12T>C) c.17+12T>C c.1482+12T>C (n.1482+12T>C) c.784+12T>C n.254+12T>C | gnomAD v4 |
1 | g.153812012A= | CA2480600226 | GATAD2B | c.1530+10T= (n.1530+10T=) c.17+10T= c.1482+10T= (n.1482+10T=) c.784+10T= n.254+10T= | |
1 | g.153812012A>G | CA889537862 | GATAD2B | c.1530+10T>C (n.1530+10T>C) c.17+10T>C c.1482+10T>C (n.1482+10T>C) c.784+10T>C n.254+10T>C | dbSNP |
1 | g.153812012A>T | CA2648088557 | GATAD2B | c.1530+10T>A (n.1530+10T>A) c.17+10T>A c.1482+10T>A (n.1482+10T>A) c.784+10T>A n.254+10T>A | gnomAD v4 |
1 | g.153812013G>A | CA1120627 | GATAD2B | c.1530+9C>T (n.1530+9C>T) c.17+9C>T c.1482+9C>T (n.1482+9C>T) c.784+9C>T n.254+9C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.153812013G= | CA2480600227 | GATAD2B | c.1530+9C= (n.1530+9C=) c.17+9C= c.1482+9C= (n.1482+9C=) c.784+9C= n.254+9C= | |
1 | g.153812013G>T | CA2573907629 | GATAD2B | c.1530+9C>A (n.1530+9C>A) c.17+9C>A c.1482+9C>A (n.1482+9C>A) c.784+9C>A n.254+9C>A | gnomAD v4 |
1 | g.153812014T>A | CA2648088561 | GATAD2B | c.1530+8A>T (n.1530+8A>T) c.17+8A>T c.1482+8A>T (n.1482+8A>T) c.784+8A>T n.254+8A>T | gnomAD v4 |
1 | g.153812014T>C | CA526382876 | GATAD2B | c.1530+8A>G (n.1530+8A>G) c.17+8A>G c.1482+8A>G (n.1482+8A>G) c.784+8A>G n.254+8A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.153812014T= | CA2480600228 | GATAD2B | c.1530+8A= (n.1530+8A=) c.17+8A= c.1482+8A= (n.1482+8A=) c.784+8A= n.254+8A= | |
1 | g.153812016C>A | CA2648088562 | GATAD2B | c.1530+6G>T (n.1530+6G>T) c.17+6G>T c.1482+6G>T (n.1482+6G>T) c.784+6G>T n.254+6G>T | gnomAD v4 |
1 | g.153812016C= | CA2480600229 | GATAD2B | c.1530+6G= (n.1530+6G=) c.17+6G= c.1482+6G= (n.1482+6G=) c.784+6G= n.254+6G= | |
1 | g.153812016C>T | CA2480600230 | GATAD2B | c.1530+6G>A (n.1530+6G>A) c.17+6G>A c.1482+6G>A (n.1482+6G>A) c.784+6G>A n.254+6G>A | dbSNP gnomAD v4 |
1 | g.153812017C= | CA2480600232 | GATAD2B | c.1530+5G= (n.1530+5G=) c.17+5G= c.1482+5G= (n.1482+5G=) c.784+5G= n.254+5G= | |
1 | g.153812017C>T | CA2480600231 | GATAD2B | c.1530+5G>A (n.1530+5G>A) c.17+5G>A c.1482+5G>A (n.1482+5G>A) c.784+5G>A n.254+5G>A | dbSNP |
1 | g.153812018T>C | CA889537872 | GATAD2B | c.1530+4A>G (n.1530+4A>G) c.17+4A>G c.1482+4A>G (n.1482+4A>G) c.784+4A>G n.254+4A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.153812018T= | CA2480600233 | GATAD2B | c.1530+4A= (n.1530+4A=) c.17+4A= c.1482+4A= (n.1482+4A=) c.784+4A= n.254+4A= | |
1 | g.153812019del | CA2648088565 | GATAD2B | c.1530+4del (n.1530+4del) c.17+4del c.1482+4del (n.1482+4del) c.784+4del n.254+4del | gnomAD v4 |
1 | g.153812019T>C | CA2648088566 | GATAD2B | c.1530+3A>G (n.1530+3A>G) c.17+3A>G c.1482+3A>G (n.1482+3A>G) c.784+3A>G n.254+3A>G | gnomAD v4 |
1 | g.153812020A>C | CA342581066 | GATAD2B | c.1530+2T>G (n.1530+2T>G) c.17+2T>G c.1482+2T>G (n.1482+2T>G) c.784+2T>G n.254+2T>G | |
1 | g.153812020A>G | CA342581067 | GATAD2B | c.1530+2T>C (n.1530+2T>C) c.17+2T>C c.1482+2T>C (n.1482+2T>C) c.784+2T>C n.254+2T>C | |
1 | g.153812020A>T | CA342581068 | GATAD2B | c.1530+2T>A (n.1530+2T>A) c.17+2T>A c.1482+2T>A (n.1482+2T>A) c.784+2T>A n.254+2T>A | |
1 | g.153812021C>A | CA342581072 | GATAD2B | c.1530+1G>T (n.1530+1G>T) c.17+1G>T c.1482+1G>T (n.1482+1G>T) c.784+1G>T n.254+1G>T | |
1 | g.153812021C>G | CA342581070 | GATAD2B | c.1530+1G>C (n.1530+1G>C) c.17+1G>C c.1482+1G>C (n.1482+1G>C) c.784+1G>C n.254+1G>C | |
1 | g.153812021C>T | CA342581071 | GATAD2B | c.1530+1G>A (n.1530+1G>A) c.17+1G>A c.1482+1G>A (n.1482+1G>A) c.784+1G>A n.254+1G>A | gnomAD v4 |
1 | g.153812022C>A | CA342581073 | GATAD2B | c.1530G>T (p.Gln510His) c.17G>T c.1482G>T (p.Gln494His) c.784G>T n.254G>T | |
1 | g.153812022C= | CA2480600234 | GATAD2B | c.1530G= (p.Gln510=) c.17G= c.1482G= (p.Gln494=) c.784G= n.254G= | |
1 | g.153812022C>G | CA342581074 | GATAD2B | c.1530G>C (p.Gln510His) c.17G>C c.1482G>C (p.Gln494His) c.784G>C n.254G>C | gnomAD v4 |
1 | g.153812022C>T | CA420859375 | GATAD2B | c.1530G>A (p.Gln510=) c.17G>A c.1482G>A (p.Gln494=) c.784G>A n.254G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.153812023T>A | CA342581075 | GATAD2B | c.1529A>T (p.Gln510Leu) c.16A>T c.1481A>T (p.Gln494Leu) c.783A>T n.253A>T | |
1 | g.153812023T>C | CA342581076 | GATAD2B | c.1529A>G (p.Gln510Arg) c.16A>G c.1481A>G (p.Gln494Arg) c.783A>G n.253A>G | gnomAD v4 |
1 | g.153812023T>G | CA342581077 | GATAD2B | c.1529A>C (p.Gln510Pro) c.16A>C c.1481A>C (p.Gln494Pro) c.783A>C n.253A>C | |
1 | g.153812024G>A | CA342581078 | GATAD2B | c.1528C>T (p.Gln510Ter) c.15C>T c.1480C>T (p.Gln494Ter) c.782C>T n.252C>T | gnomAD v4 |
1 | g.153812024G>C | CA342581079 | GATAD2B | c.1528C>G (p.Gln510Glu) c.15C>G c.1480C>G (p.Gln494Glu) c.782C>G n.252C>G | |
1 | g.153812024G>T | CA342581080 | GATAD2B | c.1528C>A (p.Gln510Lys) c.15C>A c.1480C>A (p.Gln494Lys) c.782C>A n.252C>A | gnomAD v4 |
1 | g.153812025C>A | CA420859385 | GATAD2B | c.1527G>T (p.Arg509=) c.14G>T c.1479G>T (p.Arg493=) c.781G>T n.251G>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.153812025C= | CA2480600235 | GATAD2B | c.1527G= (p.Arg509=) c.14G= c.1479G= (p.Arg493=) c.781G= n.251G= | |
1 | g.153812025C>G | CA420859386 | GATAD2B | c.1527G>C (p.Arg509=) c.14G>C c.1479G>C (p.Arg493=) c.781G>C n.251G>C | |
1 | g.153812025C>T | CA420859388 | GATAD2B | c.1527G>A (p.Arg509=) c.14G>A c.1479G>A (p.Arg493=) c.781G>A n.251G>A | gnomAD v4 |
1 | g.153812026C>A | CA342581081 | GATAD2B | c.1526G>T (p.Arg509Leu) c.13G>T c.1478G>T (p.Arg493Leu) c.780G>T n.250G>T | gnomAD v4 |
1 | g.153812026C= | CA1144197394 | GATAD2B | c.1526G= (p.Arg509=) c.13G= c.1478G= (p.Arg493=) c.780G= n.250G= | |
1 | g.153812026C>G | CA342581082 | GATAD2B | c.1526G>C (p.Arg509Pro) c.13G>C c.1478G>C (p.Arg493Pro) c.780G>C n.250G>C | ClinVar |
1 | g.153812026C>T | CA30755242 | GATAD2B | c.1526G>A (p.Arg509Gln) c.13G>A c.1478G>A (p.Arg493Gln) c.780G>A n.250G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.153812027G>A | CA342581083 | GATAD2B | c.1525C>T (p.Arg509Trp) c.12C>T c.1477C>T (p.Arg493Trp) c.779C>T n.249C>T | gnomAD v4 |
1 | g.153812027G>C | CA342581084 | GATAD2B | c.1525C>G (p.Arg509Gly) c.12C>G c.1477C>G (p.Arg493Gly) c.779C>G n.249C>G | |
1 | g.153812027G>T | CA420859395 | GATAD2B | c.1525C>A (p.Arg509=) c.12C>A c.1477C>A (p.Arg493=) c.779C>A n.249C>A | gnomAD v4 |
1 | g.153812028A>C | CA420859399 | GATAD2B | c.1524T>G (p.Leu508=) c.11T>G c.1476T>G (p.Leu492=) c.778T>G n.248T>G | |
1 | g.153812028A>G | CA420859401 | GATAD2B | c.1524T>C (p.Leu508=) c.11T>C c.1476T>C (p.Leu492=) c.778T>C n.248T>C | |
1 | g.153812028A>T | CA420859403 | GATAD2B | c.1524T>A (p.Leu508=) c.11T>A c.1476T>A (p.Leu492=) c.778T>A n.248T>A | |
1 | g.153812029A>C | CA342581087 | GATAD2B | c.1523T>G (p.Leu508Arg) c.10T>G c.1475T>G (p.Leu492Arg) c.777T>G n.247T>G | gnomAD v4 |
1 | g.153812029A>G | CA342581085 | GATAD2B | c.1523T>C (p.Leu508Pro) c.10T>C c.1475T>C (p.Leu492Pro) c.777T>C n.247T>C | gnomAD v4 |
1 | g.153812029A>T | CA342581086 | GATAD2B | c.1523T>A (p.Leu508His) c.10T>A c.1475T>A (p.Leu492His) c.777T>A n.247T>A | |
1 | g.153812030G>A | CA342581088 | GATAD2B | c.1522C>T (p.Leu508Phe) c.9C>T c.1474C>T (p.Leu492Phe) c.776C>T n.246C>T | |
1 | g.153812030G>C | CA342581089 | GATAD2B | c.1522C>G (p.Leu508Val) c.9C>G c.1474C>G (p.Leu492Val) c.776C>G n.246C>G | ClinVar |
1 | g.153812030G>T | CA342581090 | GATAD2B | c.1522C>A (p.Leu508Ile) c.9C>A c.1474C>A (p.Leu492Ile) c.776C>A n.246C>A | gnomAD v4 |
1 | g.153812031C>A | CA420859410 | GATAD2B | c.1521G>T (p.Thr507=) c.8G>T c.1473G>T (p.Thr491=) c.775G>T n.245G>T | |
1 | g.153812031C= | CA2480600236 | GATAD2B | c.1521G= (p.Thr507=) c.8G= c.1473G= (p.Thr491=) c.775G= n.245G= | |
1 | g.153812031C>G | CA1120629 | GATAD2B | c.1521G>C (p.Thr507=) c.8G>C c.1473G>C (p.Thr491=) c.775G>C n.245G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.153812031C>T | CA1120628 | GATAD2B | c.1521G>A (p.Thr507=) c.8G>A c.1473G>A (p.Thr491=) c.775G>A n.245G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.153812032G>A | CA1120630 | GATAD2B | c.1520C>T (p.Thr507Met) c.7C>T c.1472C>T (p.Thr491Met) c.774C>T n.244C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.153812032G>C | CA342581091 | GATAD2B | c.1520C>G (p.Thr507Arg) c.7C>G c.1472C>G (p.Thr491Arg) c.774C>G n.244C>G | |
1 | g.153812032G= | CA2480600237 | GATAD2B | c.1520C= (p.Thr507=) c.7C= c.1472C= (p.Thr491=) c.774C= n.244C= | |
1 | g.153812032G>T | CA342581092 | GATAD2B | c.1520C>A (p.Thr507Lys) c.7C>A c.1472C>A (p.Thr491Lys) c.774C>A n.244C>A | gnomAD v4 |
1 | g.153812033T>A | CA342581093 | GATAD2B | c.1519A>T (p.Thr507Ser) c.6A>T c.1471A>T (p.Thr491Ser) c.773A>T n.243A>T | |
1 | g.153812033T>C | CA342581094 | GATAD2B | c.1519A>G (p.Thr507Ala) c.6A>G c.1471A>G (p.Thr491Ala) c.773A>G n.243A>G | |
1 | g.153812033T>G | CA342581095 | GATAD2B | c.1519A>C (p.Thr507Pro) c.6A>C c.1471A>C (p.Thr491Pro) c.773A>C n.243A>C | |
1 | g.153812033_153812036delinsTATG | CA2480600238 | GATAD2B | c.1516_1519delinsCATA (p.His506=) c.3_6delinsCATA c.1468_1471delinsCATA (p.His490=) c.770_773delinsCATA n.240_243delinsCATA | |
1 | g.153812034A= | CA2480600239 | GATAD2B | c.1518T= (p.His506=) c.5T= c.1470T= (p.His490=) c.772T= n.242T= | |
1 | g.153812034A>C | CA1120631 | GATAD2B | c.1518T>G (p.His506Gln) c.5T>G c.1470T>G (p.His490Gln) c.772T>G n.242T>G | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.153812034A>G | CA420859426 | GATAD2B | c.1518T>C (p.His506=) c.5T>C c.1470T>C (p.His490=) c.772T>C n.242T>C | gnomAD v4 |
1 | g.153812034A>T | CA342581096 | GATAD2B | c.1518T>A (p.His506Gln) c.5T>A c.1470T>A (p.His490Gln) c.772T>A n.242T>A | |
1 | g.153812037_153812039del | CA526382883 | GATAD2B | c.1516_1518del (p.His506del) c.1468_1470del (p.His490del) c.770_772del n.240_242del | dbSNP gnomAD v2 |
1 | g.153812035T>A | CA342581099 | GATAD2B | c.1517A>T (p.His506Leu) c.4A>T c.1469A>T (p.His490Leu) c.771A>T n.241A>T | |
1 | g.153812035T>C | CA342581098 | GATAD2B | c.1517A>G (p.His506Arg) c.4A>G c.1469A>G (p.His490Arg) c.771A>G n.241A>G | |
1 | g.153812035T>G | CA342581097 | GATAD2B | c.1517A>C (p.His506Pro) c.4A>C c.1469A>C (p.His490Pro) c.771A>C n.241A>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.153812035T= | CA2480600240 | GATAD2B | c.1517A= (p.His506=) c.4A= c.1469A= (p.His490=) c.771A= n.241A= | |
1 | g.153812036G>A | CA342581100 | GATAD2B | c.1516C>T (p.His506Tyr) c.3C>T c.1468C>T (p.His490Tyr) c.770C>T n.240C>T | |
1 | g.153812036G>C | CA342581101 | GATAD2B | c.1516C>G (p.His506Asp) c.3C>G c.1468C>G (p.His490Asp) c.770C>G n.240C>G | |
1 | g.153812036G>T | CA342581102 | GATAD2B | c.1516C>A (p.His506Asn) c.3C>A c.1468C>A (p.His490Asn) c.770C>A n.240C>A | gnomAD v4 |
1 | g.153812037A>C | CA342581103 | GATAD2B | c.1515T>G (p.His505Gln) c.2T>G c.1467T>G (p.His489Gln) c.769T>G n.239T>G | |
1 | g.153812037A>G | CA420859439 | GATAD2B | c.1515T>C (p.His505=) c.2T>C c.1467T>C (p.His489=) c.769T>C n.239T>C | |
1 | g.153812037A>T | CA342581104 | GATAD2B | c.1515T>A (p.His505Gln) c.2T>A c.1467T>A (p.His489Gln) c.769T>A n.239T>A | |
1 | g.153812038T>A | CA342581105 | GATAD2B | c.1514A>T (p.His505Leu) c.1A>T c.1466A>T (p.His489Leu) c.768A>T n.238A>T | |
1 | g.153812038T>C | CA342581106 | GATAD2B | c.1514A>G (p.His505Arg) c.1A>G c.1466A>G (p.His489Arg) c.768A>G n.238A>G | |
1 | g.153812038T>G | CA342581107 | GATAD2B | c.1514A>C (p.His505Pro) c.1A>C c.1466A>C (p.His489Pro) c.768A>C n.238A>C | |
1 | g.153812039G>A | CA342581108 | GATAD2B | c.1513C>T (p.His505Tyr) c.1465C>T (p.His489Tyr) c.767C>T n.237C>T | gnomAD v4 |
1 | g.153812039G>C | CA342581109 | GATAD2B | c.1513C>G (p.His505Asp) c.1465C>G (p.His489Asp) c.767C>G n.237C>G | |
1 | g.153812039G>T | CA342581110 | GATAD2B | c.1513C>A (p.His505Asn) c.1465C>A (p.His489Asn) c.767C>A n.237C>A | gnomAD v4 |
1 | g.153812040T>A | CA342581111 | GATAD2B | c.1512A>T (p.Arg504Ser) c.1464A>T (p.Arg488Ser) c.766A>T n.236A>T | |
1 | g.153812040T>C | CA420859453 | GATAD2B | c.1512A>G (p.Arg504=) c.1464A>G (p.Arg488=) c.766A>G n.236A>G | |
1 | g.153812040T>G | CA342581112 | GATAD2B | c.1512A>C (p.Arg504Ser) c.1464A>C (p.Arg488Ser) c.766A>C n.236A>C | |
1 | g.153812041C>A | CA342581114 | GATAD2B | c.1511G>T (p.Arg504Ile) c.1463G>T (p.Arg488Ile) c.765G>T n.235G>T | |
1 | g.153812041C>G | CA342581115 | GATAD2B | c.1511G>C (p.Arg504Thr) c.1463G>C (p.Arg488Thr) c.765G>C n.235G>C | |
1 | g.153812041C>T | CA342581113 | GATAD2B | c.1511G>A (p.Arg504Lys) c.1463G>A (p.Arg488Lys) c.765G>A n.235G>A | |
1 | g.153812042T>A | CA342581116 | GATAD2B | c.1510A>T (p.Arg504Ter) c.1462A>T (p.Arg488Ter) c.764A>T n.234A>T | |
1 | g.153812042T>C | CA342581117 | GATAD2B | c.1510A>G (p.Arg504Gly) c.1462A>G (p.Arg488Gly) c.764A>G n.234A>G | |
1 | g.153812042T>G | CA420859464 | GATAD2B | c.1510A>C (p.Arg504=) c.1462A>C (p.Arg488=) c.764A>C n.234A>C | |
1 | g.153812043C>A | CA342581119 | GATAD2B | c.1509G>T (p.Met503Ile) c.1461G>T (p.Met487Ile) c.763G>T n.233G>T | |
1 | g.153812043C>G | CA342581121 | GATAD2B | c.1509G>C (p.Met503Ile) c.1461G>C (p.Met487Ile) c.763G>C n.233G>C | |
1 | g.153812043C>T | CA342581123 | GATAD2B | c.1509G>A (p.Met503Ile) c.1461G>A (p.Met487Ile) c.763G>A n.233G>A | COSMIC |
1 | g.153812044A= | CA2480600241 | GATAD2B | c.1508T= (p.Met503=) c.1460T= (p.Met487=) c.762T= n.232T= | |
1 | g.153812044A>C | CA342581124 | GATAD2B | c.1508T>G (p.Met503Arg) c.1460T>G (p.Met487Arg) c.762T>G n.232T>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.153812044A>G | CA342581126 | GATAD2B | c.1508T>C (p.Met503Thr) c.1460T>C (p.Met487Thr) c.762T>C n.232T>C | gnomAD v4 |
1 | g.153812044A>T | CA342581127 | GATAD2B | c.1508T>A (p.Met503Lys) c.1460T>A (p.Met487Lys) c.762T>A n.232T>A | |
1 | g.153812045T>A | CA342581128 | GATAD2B | c.1507A>T (p.Met503Leu) c.1459A>T (p.Met487Leu) c.761A>T n.231A>T | |
1 | g.153812045T>C | CA342581130 | GATAD2B | c.1507A>G (p.Met503Val) c.1459A>G (p.Met487Val) c.761A>G n.231A>G | |
1 | g.153812045T>G | CA342581131 | GATAD2B | c.1507A>C (p.Met503Leu) c.1459A>C (p.Met487Leu) c.761A>C n.231A>C | |
1 | g.153812046G>A | CA420859469 | GATAD2B | c.1506C>T (p.Ile502=) c.1458C>T (p.Ile486=) c.760C>T n.230C>T | |
1 | g.153812046G>C | CA342581132 | GATAD2B | c.1506C>G (p.Ile502Met) c.1458C>G (p.Ile486Met) c.760C>G n.230C>G | gnomAD v4 |
1 | g.153812046G>T | CA420859473 | GATAD2B | c.1506C>A (p.Ile502=) c.1458C>A (p.Ile486=) c.760C>A n.230C>A | gnomAD v4 |
1 | g.153812047A>C | CA342581138 | GATAD2B | c.1505T>G (p.Ile502Ser) c.1457T>G (p.Ile486Ser) c.759T>G n.229T>G | |
1 | g.153812047A>G | CA342581136 | GATAD2B | c.1505T>C (p.Ile502Thr) c.1457T>C (p.Ile486Thr) c.759T>C n.229T>C | |
1 | g.153812047A>T | CA342581134 | GATAD2B | c.1505T>A (p.Ile502Asn) c.1457T>A (p.Ile486Asn) c.759T>A n.229T>A | |
1 | g.153812048T>A | CA342581139 | GATAD2B | c.1504A>T (p.Ile502Phe) c.1456A>T (p.Ile486Phe) c.758A>T n.228A>T | |
1 | g.153812048T>C | CA342581140 | GATAD2B | c.1504A>G (p.Ile502Val) c.1456A>G (p.Ile486Val) c.758A>G n.228A>G | ClinVar |
1 | g.153812048T>G | CA342581141 | GATAD2B | c.1504A>C (p.Ile502Leu) c.1456A>C (p.Ile486Leu) c.758A>C n.228A>C | |
1 | g.153812049G>A | CA1120632 | GATAD2B | c.1503C>T (p.Thr501=) c.1455C>T (p.Thr485=) c.757C>T n.227C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.153812049G>C | CA420859486 | GATAD2B | c.1503C>G (p.Thr501=) c.1455C>G (p.Thr485=) c.757C>G n.227C>G | |
1 | g.153812049G= | CA2480600242 | GATAD2B | c.1503C= (p.Thr501=) c.1455C= (p.Thr485=) c.757C= n.227C= | |
1 | g.153812049G>T | CA420859488 | GATAD2B | c.1503C>A (p.Thr501=) c.1455C>A (p.Thr485=) c.757C>A n.227C>A | |
1 | g.153812050G>A | CA342581143 | GATAD2B | c.1502C>T (p.Thr501Ile) c.1454C>T (p.Thr485Ile) c.756C>T n.226C>T | gnomAD v4 |
1 | g.153812050G>C | CA342581145 | GATAD2B | c.1502C>G (p.Thr501Ser) c.1454C>G (p.Thr485Ser) c.756C>G n.226C>G | ClinVar |
1 | g.153812050G>T | CA342581147 | GATAD2B | c.1502C>A (p.Thr501Asn) c.1454C>A (p.Thr485Asn) c.756C>A n.226C>A | |
1 | g.153812051T>A | CA342581148 | GATAD2B | c.1501A>T (p.Thr501Ser) c.1453A>T (p.Thr485Ser) c.755A>T n.225A>T | |
1 | g.153812051T>C | CA1120633 | GATAD2B | c.1501A>G (p.Thr501Ala) c.1453A>G (p.Thr485Ala) c.755A>G n.225A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.153812051T>G | CA342581149 | GATAD2B | c.1501A>C (p.Thr501Pro) c.1453A>C (p.Thr485Pro) c.755A>C n.225A>C | |
1 | g.153812051T= | CA1143706270 | GATAD2B | c.1501A= (p.Thr501=) c.1453A= (p.Thr485=) c.755A= n.225A= | |
1 | g.153812052C>A | CA342581150 | GATAD2B | c.1500G>T (p.Glu500Asp) c.1452G>T (p.Glu484Asp) c.754G>T n.224G>T | |
1 | g.153812052C>G | CA342581152 | GATAD2B | c.1500G>C (p.Glu500Asp) c.1452G>C (p.Glu484Asp) c.754G>C n.224G>C | |
1 | g.153812052C>T | CA420859502 | GATAD2B | c.1500G>A (p.Glu500=) c.1452G>A (p.Glu484=) c.754G>A n.224G>A | |
1 | g.153812053T>A | CA342581155 | GATAD2B | c.1499A>T (p.Glu500Val) c.1451A>T (p.Glu484Val) c.753A>T n.223A>T | |
1 | g.153812053T>C | CA342581156 | GATAD2B | c.1499A>G (p.Glu500Gly) c.1451A>G (p.Glu484Gly) c.753A>G n.223A>G | |
1 | g.153812053T>G | CA342581153 | GATAD2B | c.1499A>C (p.Glu500Ala) c.1451A>C (p.Glu484Ala) c.753A>C n.223A>C | |
1 | g.153812054C>A | CA342581158 | GATAD2B | c.1498G>T (p.Glu500Ter) c.1450G>T (p.Glu484Ter) c.752G>T n.222G>T | |
1 | g.153812054C>G | CA342581159 | GATAD2B | c.1498G>C (p.Glu500Gln) c.1450G>C (p.Glu484Gln) c.752G>C n.222G>C | |
1 | g.153812054C>T | CA342581161 | GATAD2B | c.1498G>A (p.Glu500Lys) c.1450G>A (p.Glu484Lys) c.752G>A n.222G>A | |
1 | g.153812055T>A | CA342581162 | GATAD2B | c.1497A>T (p.Gln499His) c.1449A>T (p.Gln483His) c.751A>T n.221A>T | |
1 | g.153812055T>C | CA420859512 | GATAD2B | c.1497A>G (p.Gln499=) c.1449A>G (p.Gln483=) c.751A>G n.221A>G | gnomAD v4 |
1 | g.153812055T>G | CA342581163 | GATAD2B | c.1497A>C (p.Gln499His) c.1449A>C (p.Gln483His) c.751A>C n.221A>C | |
1 | g.153812056T>A | CA342581165 | GATAD2B | c.1496A>T (p.Gln499Leu) c.1448A>T (p.Gln483Leu) c.750A>T n.220A>T | |
1 | g.153812056T>C | CA342581167 | GATAD2B | c.1496A>G (p.Gln499Arg) c.1448A>G (p.Gln483Arg) c.750A>G n.220A>G | dbSNP |
1 | g.153812056T>G | CA342581169 | GATAD2B | c.1496A>C (p.Gln499Pro) c.1448A>C (p.Gln483Pro) c.750A>C n.220A>C | gnomAD v4 |
1 | g.153812056T= | CA2480600243 | GATAD2B | c.1496A= (p.Gln499=) c.1448A= (p.Gln483=) c.750A= n.220A= | |
1 | g.153812057G>A | CA342581170 | GATAD2B | c.1495C>T (p.Gln499Ter) c.1447C>T (p.Gln483Ter) c.749C>T n.219C>T | |
1 | g.153812057G>C | CA342581172 | GATAD2B | c.1495C>G (p.Gln499Glu) c.1447C>G (p.Gln483Glu) c.749C>G n.219C>G | |
1 | g.153812057G>T | CA342581174 | GATAD2B | c.1495C>A (p.Gln499Lys) c.1447C>A (p.Gln483Lys) c.749C>A n.219C>A | |
1 | g.153812058T>A | CA342581175 | GATAD2B | c.1494A>T (p.Lys498Asn) c.1446A>T (p.Lys482Asn) c.748A>T n.218A>T | |
1 | g.153812058T>C | CA420859526 | GATAD2B | c.1494A>G (p.Lys498=) c.1446A>G (p.Lys482=) c.748A>G n.218A>G | |
1 | g.153812058T>G | CA342581176 | GATAD2B | c.1494A>C (p.Lys498Asn) c.1446A>C (p.Lys482Asn) c.748A>C n.218A>C | |
1 | g.153812059T>A | CA342581180 | GATAD2B | c.1493A>T (p.Lys498Ile) c.1445A>T (p.Lys482Ile) c.747A>T n.217A>T | |
1 | g.153812059T>C | CA342581178 | GATAD2B | c.1493A>G (p.Lys498Arg) c.1445A>G (p.Lys482Arg) c.747A>G n.217A>G | |
1 | g.153812059T>G | CA342581177 | GATAD2B | c.1493A>C (p.Lys498Thr) c.1445A>C (p.Lys482Thr) c.747A>C n.217A>C | |
1 | g.153812060T>A | CA342581182 | GATAD2B | c.1492A>T (p.Lys498Ter) c.1444A>T (p.Lys482Ter) c.746A>T n.216A>T | |
1 | g.153812060T>C | CA342581184 | GATAD2B | c.1492A>G (p.Lys498Glu) c.1444A>G (p.Lys482Glu) c.746A>G n.216A>G | |
1 | g.153812060T>G | CA342581185 | GATAD2B | c.1492A>C (p.Lys498Gln) c.1444A>C (p.Lys482Gln) c.746A>C n.216A>C | |
1 | g.153812061A>C | CA342581186 | GATAD2B | c.1491T>G (p.Ser497Arg) c.1443T>G (p.Ser481Arg) c.745T>G n.215T>G | |
1 | g.153812061A>G | CA420859541 | GATAD2B | c.1491T>C (p.Ser497=) c.1443T>C (p.Ser481=) c.745T>C n.215T>C | gnomAD v4 |
1 | g.153812061A>T | CA342581188 | GATAD2B | c.1491T>A (p.Ser497Arg) c.1443T>A (p.Ser481Arg) c.745T>A n.215T>A | |
1 | g.153812062C>A | CA342581190 | GATAD2B | c.1490G>T (p.Ser497Ile) c.1442G>T (p.Ser481Ile) c.744G>T n.214G>T | |
1 | g.153812062C>G | CA342581191 | GATAD2B | c.1490G>C (p.Ser497Thr) c.1442G>C (p.Ser481Thr) c.744G>C n.214G>C | |
1 | g.153812062C>T | CA342581193 | GATAD2B | c.1490G>A (p.Ser497Asn) c.1442G>A (p.Ser481Asn) c.744G>A n.214G>A | |
1 | g.153812063T>A | CA342581194 | GATAD2B | c.1489A>T (p.Ser497Cys) c.1441A>T (p.Ser481Cys) c.743A>T n.213A>T | |
1 | g.153812063T>C | CA1120634 | GATAD2B | c.1489A>G (p.Ser497Gly) c.1441A>G (p.Ser481Gly) c.743A>G n.213A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.153812063T>G | CA342581200 | GATAD2B | c.1489A>C (p.Ser497Arg) c.1441A>C (p.Ser481Arg) c.743A>C n.213A>C | |
1 | g.153812063T= | CA1148392557 | GATAD2B | c.1489A= (p.Ser497=) c.1441A= (p.Ser481=) c.743A= n.213A= | |
1 | g.153812064del | CA2573907683 | GATAD2B | c.1488del (p.Ser497ValfsTer7) c.1440del (p.Ser481ValfsTer7) c.742del n.212del | |
1 | g.153812064G>A | CA1120635 | GATAD2B | c.1488C>T (p.Val496=) c.1440C>T (p.Val480=) c.742C>T n.212C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.153812064G>C | CA420859554 | GATAD2B | c.1488C>G (p.Val496=) c.1440C>G (p.Val480=) c.742C>G n.212C>G | |
1 | g.153812064G= | CA2480600244 | GATAD2B | c.1488C= (p.Val496=) c.1440C= (p.Val480=) c.742C= n.212C= | |
1 | g.153812064G>T | CA420859555 | GATAD2B | c.1488C>A (p.Val496=) c.1440C>A (p.Val480=) c.742C>A n.212C>A | |
1 | g.153812065A>C | CA342581210 | GATAD2B | c.1487T>G (p.Val496Gly) c.1439T>G (p.Val480Gly) c.741T>G n.211T>G | |
1 | g.153812065A>G | CA342581208 | GATAD2B | c.1487T>C (p.Val496Ala) c.1439T>C (p.Val480Ala) c.741T>C n.211T>C | |
1 | g.153812065A>T | CA342581202 | GATAD2B | c.1487T>A (p.Val496Asp) c.1439T>A (p.Val480Asp) c.741T>A n.211T>A | |
1 | g.153812066C>A | CA342581212 | GATAD2B | c.1486G>T (p.Val496Phe) c.1438G>T (p.Val480Phe) c.740G>T n.210G>T | |
1 | g.153812066C= | CA2480600245 | GATAD2B | c.1486G= (p.Val496=) c.1438G= (p.Val480=) c.740G= n.210G= | |
1 | g.153812066C>G | CA342581222 | GATAD2B | c.1486G>C (p.Val496Leu) c.1438G>C (p.Val480Leu) c.740G>C n.210G>C | |
1 | g.153812066C>T | CA342581214 | GATAD2B | c.1486G>A (p.Val496Ile) c.1438G>A (p.Val480Ile) c.740G>A n.210G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.153812067A>C | CA342581223 | GATAD2B | c.1485T>G (p.Ser495Arg) c.1437T>G (p.Ser479Arg) c.739T>G n.209T>G | |
1 | g.153812067A>G | CA420859568 | GATAD2B | c.1485T>C (p.Ser495=) c.1437T>C (p.Ser479=) c.739T>C n.209T>C | gnomAD v4 |
1 | g.153812067A>T | CA342581224 | GATAD2B | c.1485T>A (p.Ser495Arg) c.1437T>A (p.Ser479Arg) c.739T>A n.209T>A | |
1 | g.153812068C>A | CA342581225 | GATAD2B | c.1484G>T (p.Ser495Ile) c.1436G>T (p.Ser479Ile) c.738G>T n.208G>T | |
1 | g.153812068C= | CA1145085510 | GATAD2B | c.1484G= (p.Ser495=) c.1436G= (p.Ser479=) c.738G= n.208G= | |
1 | g.153812068C>G | CA1120636 | GATAD2B | c.1484G>C (p.Ser495Thr) c.1436G>C (p.Ser479Thr) c.738G>C n.208G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.153812068C>T | CA342581226 | GATAD2B | c.1484G>A (p.Ser495Asn) c.1436G>A (p.Ser479Asn) c.738G>A n.208G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.153812069T>A | CA342581227 | GATAD2B | c.1483A>T (p.Ser495Cys) c.1435A>T (p.Ser479Cys) c.737A>T n.207A>T | gnomAD v4 |
1 | g.153812069T>C | CA342581228 | GATAD2B | c.1483A>G (p.Ser495Gly) c.1435A>G (p.Ser479Gly) c.737A>G n.207A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.153812069T>G | CA342581229 | GATAD2B | c.1483A>C (p.Ser495Arg) c.1435A>C (p.Ser479Arg) c.737A>C n.207A>C | |
1 | g.153812069T= | CA2480600246 | GATAD2B | c.1483A= (p.Ser495=) c.1435A= (p.Ser479=) c.737A= n.207A= | |
1 | g.153812070G>A | CA420859579 | GATAD2B | c.1482C>T (p.Ser494=) c.1434C>T (p.Ser478=) c.736C>T n.206C>T | ClinVar dbSNP |
1 | g.153812070G>C | CA420859581 | GATAD2B | c.1482C>G (p.Ser494=) c.1434C>G (p.Ser478=) c.736C>G n.206C>G | |
1 | g.153812070G>T | CA420859583 | GATAD2B | c.1482C>A (p.Ser494=) c.1434C>A (p.Ser478=) c.736C>A n.206C>A | |
1 | g.153812071G>A | CA342581231 | GATAD2B | c.1481C>T (p.Ser494Phe) c.1433C>T (p.Ser478Phe) c.735C>T n.205C>T | gnomAD v4 |
1 | g.153812071G>C | CA342581232 | GATAD2B | c.1481C>G (p.Ser494Cys) c.1433C>G (p.Ser478Cys) c.735C>G n.205C>G | |
1 | g.153812071G>T | CA342581233 | GATAD2B | c.1481C>A (p.Ser494Tyr) c.1433C>A (p.Ser478Tyr) c.735C>A n.205C>A | |
1 | g.153812072A= | CA1148896804 | GATAD2B | c.1480T= (p.Ser494=) c.1432T= (p.Ser478=) c.734T= n.204T= | |
1 | g.153812072A>C | CA342581235 | GATAD2B | c.1480T>G (p.Ser494Ala) c.1432T>G (p.Ser478Ala) c.734T>G n.204T>G | |
1 | g.153812072A>G | CA1120637 | GATAD2B | c.1480T>C (p.Ser494Pro) c.1432T>C (p.Ser478Pro) c.734T>C n.204T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.153812072A>T | CA342581234 | GATAD2B | c.1480T>A (p.Ser494Thr) c.1432T>A (p.Ser478Thr) c.734T>A n.204T>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.153812073C>A | CA420859595 | GATAD2B | c.1479G>T (p.Val493=) c.1431G>T (p.Val477=) c.733G>T n.203G>T | |
1 | g.153812073C>G | CA420859600 | GATAD2B | c.1479G>C (p.Val493=) c.1431G>C (p.Val477=) c.733G>C n.203G>C | |
1 | g.153812073C>T | CA420859597 | GATAD2B | c.1479G>A (p.Val493=) c.1431G>A (p.Val477=) c.733G>A n.203G>A | ClinVar |
1 | g.153812074A>C | CA342581236 | GATAD2B | c.1478T>G (p.Val493Gly) c.1430T>G (p.Val477Gly) c.732T>G n.202T>G | |
1 | g.153812074A>G | CA342581238 | GATAD2B | c.1478T>C (p.Val493Ala) c.1430T>C (p.Val477Ala) c.732T>C n.202T>C | |
1 | g.153812074A>T | CA342581239 | GATAD2B | c.1478T>A (p.Val493Glu) c.1430T>A (p.Val477Glu) c.732T>A n.202T>A | |
1 | g.153812075C>A | CA342581240 | GATAD2B | c.1477G>T (p.Val493Leu) c.1429G>T (p.Val477Leu) c.731G>T n.201G>T | COSMIC |
1 | g.153812075C= | CA2480600247 | GATAD2B | c.1477G= (p.Val493=) c.1429G= (p.Val477=) c.731G= n.201G= | |
1 | g.153812075C>G | CA342581242 | GATAD2B | c.1477G>C (p.Val493Leu) c.1429G>C (p.Val477Leu) c.731G>C n.201G>C | gnomAD v4 |
1 | g.153812075C>T | CA342581243 | GATAD2B | c.1477G>A (p.Val493Met) c.1429G>A (p.Val477Met) c.731G>A n.201G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.153812076A>C | CA420859609 | GATAD2B | c.1476T>G (p.Ala492=) c.1428T>G (p.Ala476=) c.730T>G n.200T>G | |
1 | g.153812076A>G | CA420859612 | GATAD2B | c.1476T>C (p.Ala492=) c.1428T>C (p.Ala476=) c.730T>C n.200T>C | |
1 | g.153812076A>T | CA420859614 | GATAD2B | c.1476T>A (p.Ala492=) c.1428T>A (p.Ala476=) c.730T>A n.200T>A | |
1 | g.153812077G>A | CA342581244 | GATAD2B | c.1475C>T (p.Ala492Val) c.1427C>T (p.Ala476Val) c.729C>T n.199C>T | ClinVar dbSNP gnomAD v4 |
1 | g.153812077G>C | CA342581245 | GATAD2B | c.1475C>G (p.Ala492Gly) c.1427C>G (p.Ala476Gly) c.729C>G n.199C>G | |
1 | g.153812077G= | CA2480600248 | GATAD2B | c.1475C= (p.Ala492=) c.1427C= (p.Ala476=) c.729C= n.199C= | |
1 | g.153812077G>T | CA342581246 | GATAD2B | c.1475C>A (p.Ala492Asp) c.1427C>A (p.Ala476Asp) c.729C>A n.199C>A | |
1 | g.153812078C>A | CA342581247 | GATAD2B | c.1474G>T (p.Ala492Ser) c.1426G>T (p.Ala476Ser) c.728G>T n.198G>T | |
1 | g.153812078C>G | CA342581248 | GATAD2B | c.1474G>C (p.Ala492Pro) c.1426G>C (p.Ala476Pro) c.728G>C n.198G>C | |
1 | g.153812078C>T | CA342581249 | GATAD2B | c.1474G>A (p.Ala492Thr) c.1426G>A (p.Ala476Thr) c.728G>A n.198G>A | |
1 | g.153812079T>A | CA420859625 | GATAD2B | c.1473A>T (p.Pro491=) c.1425A>T (p.Pro475=) c.727A>T n.197A>T | |
1 | g.153812079T>C | CA30755279 | GATAD2B | c.1473A>G (p.Pro491=) c.1425A>G (p.Pro475=) c.727A>G n.197A>G | dbSNP gnomAD v4 |
1 | g.153812079T>G | CA420859628 | GATAD2B | c.1473A>C (p.Pro491=) c.1425A>C (p.Pro475=) c.727A>C n.197A>C | |
1 | g.153812079T= | CA2480600249 | GATAD2B | c.1473A= (p.Pro491=) c.1425A= (p.Pro475=) c.727A= n.197A= | |
1 | g.153812080G>A | CA342581254 | GATAD2B | c.1472C>T (p.Pro491Leu) c.1424C>T (p.Pro475Leu) c.726C>T n.196C>T | |
1 | g.153812080G>C | CA342581252 | GATAD2B | c.1472C>G (p.Pro491Arg) c.1424C>G (p.Pro475Arg) c.726C>G n.196C>G | |
1 | g.153812080G>T | CA342581251 | GATAD2B | c.1472C>A (p.Pro491Gln) c.1424C>A (p.Pro475Gln) c.726C>A n.196C>A | |
1 | g.153812081G>A | CA342581258 | GATAD2B | c.1471C>T (p.Pro491Ser) c.1423C>T (p.Pro475Ser) c.725C>T n.195C>T | |
1 | g.153812081G>C | CA342581255 | GATAD2B | c.1471C>G (p.Pro491Ala) c.1423C>G (p.Pro475Ala) c.725C>G n.195C>G | |
1 | g.153812081G>T | CA342581257 | GATAD2B | c.1471C>A (p.Pro491Thr) c.1423C>A (p.Pro475Thr) c.725C>A n.195C>A | |
1 | g.153812082A>C | CA420859638 | GATAD2B | c.1470T>G (p.Ala490=) c.1422T>G (p.Ala474=) c.724T>G n.194T>G | |
1 | g.153812082A>G | CA420859640 | GATAD2B | c.1470T>C (p.Ala490=) c.1422T>C (p.Ala474=) c.724T>C n.194T>C | |
1 | g.153812082A>T | CA420859642 | GATAD2B | c.1470T>A (p.Ala490=) c.1422T>A (p.Ala474=) c.724T>A n.194T>A | |
1 | g.153812083G>A | CA209126 | GATAD2B | c.1469C>T (p.Ala490Val) c.1421C>T (p.Ala474Val) c.723C>T n.193C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.153812083G>C | CA342581260 | GATAD2B | c.1469C>G (p.Ala490Gly) c.1421C>G (p.Ala474Gly) c.723C>G n.193C>G | |
1 | g.153812083G= | CA1142034927 | GATAD2B | c.1469C= (p.Ala490=) c.1421C= (p.Ala474=) c.723C= n.193C= | |
1 | g.153812083G>T | CA342581262 | GATAD2B | c.1469C>A (p.Ala490Asp) c.1421C>A (p.Ala474Asp) c.723C>A n.193C>A | |
1 | g.153812084C>A | CA342581263 | GATAD2B | c.1468G>T (p.Ala490Ser) c.1420G>T (p.Ala474Ser) c.722G>T n.192G>T | |
1 | g.153812084C= | CA2480600250 | GATAD2B | c.1468G= (p.Ala490=) c.1420G= (p.Ala474=) c.722G= n.192G= | |
1 | g.153812084C>G | CA342581265 | GATAD2B | c.1468G>C (p.Ala490Pro) c.1420G>C (p.Ala474Pro) c.722G>C n.192G>C | |
1 | g.153812084C>T | CA1120638 | GATAD2B | c.1468G>A (p.Ala490Thr) c.1420G>A (p.Ala474Thr) c.722G>A n.192G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.153812085C>A | CA420859656 | GATAD2B | c.1467G>T (p.Thr489=) c.1419G>T (p.Thr473=) c.721G>T n.191G>T | dbSNP gnomAD v4 |
1 | g.153812085C= | CA2480600251 | GATAD2B | c.1467G= (p.Thr489=) c.1419G= (p.Thr473=) c.721G= n.191G= | |
1 | g.153812085C>G | CA420859669 | GATAD2B | c.1467G>C (p.Thr489=) c.1419G>C (p.Thr473=) c.721G>C n.191G>C | |
1 | g.153812085C>T | CA1120639 | GATAD2B | c.1467G>A (p.Thr489=) c.1419G>A (p.Thr473=) c.721G>A n.191G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.153812086G>A | CA342581269 | GATAD2B | c.1466C>T (p.Thr489Met) c.1418C>T (p.Thr473Met) c.720C>T n.190C>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.153812086G>C | CA342581270 | GATAD2B | c.1466C>G (p.Thr489Arg) c.1418C>G (p.Thr473Arg) c.720C>G n.190C>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.153812086G= | CA2480600252 | GATAD2B | c.1466C= (p.Thr489=) c.1418C= (p.Thr473=) c.720C= n.190C= | |
1 | g.153812086G>T | CA342581272 | GATAD2B | c.1466C>A (p.Thr489Lys) c.1418C>A (p.Thr473Lys) c.720C>A n.190C>A | |
1 | g.153812087T>A | CA342581275 | GATAD2B | c.1465A>T (p.Thr489Ser) c.1417A>T (p.Thr473Ser) c.719A>T n.189A>T | |
1 | g.153812087T>C | CA1120640 | GATAD2B | c.1465A>G (p.Thr489Ala) c.1417A>G (p.Thr473Ala) c.719A>G n.189A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.153812087T>G | CA342581273 | GATAD2B | c.1465A>C (p.Thr489Pro) c.1417A>C (p.Thr473Pro) c.719A>C n.189A>C | |
1 | g.153812087T= | CA2480600253 | GATAD2B | c.1465A= (p.Thr489=) c.1417A= (p.Thr473=) c.719A= n.189A= | |
1 | g.153812088A= | CA2480600254 | GATAD2B | c.1464T= (p.Thr488=) c.1416T= (p.Thr472=) c.718T= n.188T= | |
1 | g.153812088A>C | CA420859683 | GATAD2B | c.1464T>G (p.Thr488=) c.1416T>G (p.Thr472=) c.718T>G n.188T>G | |
1 | g.153812088A>G | CA420859685 | GATAD2B | c.1464T>C (p.Thr488=) c.1416T>C (p.Thr472=) c.718T>C n.188T>C | dbSNP gnomAD v4 |
1 | g.153812088A>T | CA420859688 | GATAD2B | c.1464T>A (p.Thr488=) c.1416T>A (p.Thr472=) c.718T>A n.188T>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.153812089G>A | CA342581278 | GATAD2B | c.1463C>T (p.Thr488Ile) c.1415C>T (p.Thr472Ile) c.717C>T n.187C>T | gnomAD v4 |
1 | g.153812089G>C | CA342581279 | GATAD2B | c.1463C>G (p.Thr488Ser) c.1415C>G (p.Thr472Ser) c.717C>G n.187C>G | |
1 | g.153812089G>T | CA342581281 | GATAD2B | c.1463C>A (p.Thr488Asn) c.1415C>A (p.Thr472Asn) c.717C>A n.187C>A | |
1 | g.153812090T>A | CA342581283 | GATAD2B | c.1462A>T (p.Thr488Ser) c.1414A>T (p.Thr472Ser) c.716A>T n.186A>T | |
1 | g.153812090T>C | CA342581286 | GATAD2B | c.1462A>G (p.Thr488Ala) c.1414A>G (p.Thr472Ala) c.716A>G n.186A>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.153812090T>G | CA342581287 | GATAD2B | c.1462A>C (p.Thr488Pro) c.1414A>C (p.Thr472Pro) c.716A>C n.186A>C | |
1 | g.153812090T= | CA2480600255 | GATAD2B | c.1462A= (p.Thr488=) c.1414A= (p.Thr472=) c.716A= n.186A= |