Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.153812003C>GCA2648088550GATAD2Bc.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
1g.153812003C>TCA2648088551GATAD2Bc.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
1g.153812004A>GCA2648088552GATAD2Bc.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
1g.153812005G>TCA2573907457GATAD2Bc.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
1g.153812006G>ACA1120624GATAD2Bc.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
1g.153812006G=CA2480600223GATAD2Bc.1530+16C= (n.1530+16C=)
c.17+16C=
c.1482+16C= (n.1482+16C=)
c.784+16C=
n.254+16C=
1g.153812006G>TCA2573907513GATAD2Bc.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
1g.153812007C=CA2480600224GATAD2Bc.1530+15G= (n.1530+15G=)
c.17+15G=
c.1482+15G= (n.1482+15G=)
c.784+15G=
n.254+15G=
1g.153812007C>TCA1120625GATAD2Bc.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
1g.153812008A=CA1147823068GATAD2Bc.1530+14T= (n.1530+14T=)
c.17+14T=
c.1482+14T= (n.1482+14T=)
c.784+14T=
n.254+14T=
1g.153812008A>GCA1120626GATAD2Bc.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
1g.153812012delCA420859359GATAD2Bc.1530+14del (n.1530+14del)
c.17+14del
c.1482+14del (n.1482+14del)
c.784+14del
n.254+14del
 gnomAD v4
1g.153812009A=CA2480600225GATAD2Bc.1530+13T= (n.1530+13T=)
c.17+13T=
c.1482+13T= (n.1482+13T=)
c.784+13T=
n.254+13T=
1g.153812009A>GCA30755224GATAD2Bc.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
1g.153812009A>TCA2573907593GATAD2Bc.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
1g.153812010A>GCA2511510568GATAD2Bc.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
1g.153812012A=CA2480600226GATAD2Bc.1530+10T= (n.1530+10T=)
c.17+10T=
c.1482+10T= (n.1482+10T=)
c.784+10T=
n.254+10T=
1g.153812012A>GCA889537862GATAD2Bc.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
1g.153812012A>TCA2648088557GATAD2Bc.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
1g.153812013G>ACA1120627GATAD2Bc.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
1g.153812013G=CA2480600227GATAD2Bc.1530+9C= (n.1530+9C=)
c.17+9C=
c.1482+9C= (n.1482+9C=)
c.784+9C=
n.254+9C=
1g.153812013G>TCA2573907629GATAD2Bc.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
1g.153812014T>ACA2648088561GATAD2Bc.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
1g.153812014T>CCA526382876GATAD2Bc.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
1g.153812014T=CA2480600228GATAD2Bc.1530+8A= (n.1530+8A=)
c.17+8A=
c.1482+8A= (n.1482+8A=)
c.784+8A=
n.254+8A=
1g.153812016C>ACA2648088562GATAD2Bc.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
1g.153812016C=CA2480600229GATAD2Bc.1530+6G= (n.1530+6G=)
c.17+6G=
c.1482+6G= (n.1482+6G=)
c.784+6G=
n.254+6G=
1g.153812016C>TCA2480600230GATAD2Bc.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
1g.153812017C=CA2480600232GATAD2Bc.1530+5G= (n.1530+5G=)
c.17+5G=
c.1482+5G= (n.1482+5G=)
c.784+5G=
n.254+5G=
1g.153812017C>TCA2480600231GATAD2Bc.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
1g.153812018T>CCA889537872GATAD2Bc.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
1g.153812018T=CA2480600233GATAD2Bc.1530+4A= (n.1530+4A=)
c.17+4A=
c.1482+4A= (n.1482+4A=)
c.784+4A=
n.254+4A=
1g.153812019delCA2648088565GATAD2Bc.1530+4del (n.1530+4del)
c.17+4del
c.1482+4del (n.1482+4del)
c.784+4del
n.254+4del
 gnomAD v4
1g.153812019T>CCA2648088566GATAD2Bc.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
1g.153812020A>CCA342581066GATAD2Bc.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
1g.153812020A>GCA342581067GATAD2Bc.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
1g.153812020A>TCA342581068GATAD2Bc.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
1g.153812021C>ACA342581072GATAD2Bc.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
1g.153812021C>GCA342581070GATAD2Bc.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
1g.153812021C>TCA342581071GATAD2Bc.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
1g.153812022C>ACA342581073GATAD2Bc.1530G>T (p.Gln510His)
c.17G>T
c.1482G>T (p.Gln494His)
c.784G>T
n.254G>T
1g.153812022C=CA2480600234GATAD2Bc.1530G= (p.Gln510=)
c.17G=
c.1482G= (p.Gln494=)
c.784G=
n.254G=
1g.153812022C>GCA342581074GATAD2Bc.1530G>C (p.Gln510His)
c.17G>C
c.1482G>C (p.Gln494His)
c.784G>C
n.254G>C
 gnomAD v4
1g.153812022C>TCA420859375GATAD2Bc.1530G>A (p.Gln510=)
c.17G>A
c.1482G>A (p.Gln494=)
c.784G>A
n.254G>A
 dbSNP gnomAD v2 gnomAD v4
1g.153812023T>ACA342581075GATAD2Bc.1529A>T (p.Gln510Leu)
c.16A>T
c.1481A>T (p.Gln494Leu)
c.783A>T
n.253A>T
1g.153812023T>CCA342581076GATAD2Bc.1529A>G (p.Gln510Arg)
c.16A>G
c.1481A>G (p.Gln494Arg)
c.783A>G
n.253A>G
 gnomAD v4
1g.153812023T>GCA342581077GATAD2Bc.1529A>C (p.Gln510Pro)
c.16A>C
c.1481A>C (p.Gln494Pro)
c.783A>C
n.253A>C
1g.153812024G>ACA342581078GATAD2Bc.1528C>T (p.Gln510Ter)
c.15C>T
c.1480C>T (p.Gln494Ter)
c.782C>T
n.252C>T
 gnomAD v4
1g.153812024G>CCA342581079GATAD2Bc.1528C>G (p.Gln510Glu)
c.15C>G
c.1480C>G (p.Gln494Glu)
c.782C>G
n.252C>G
1g.153812024G>TCA342581080GATAD2Bc.1528C>A (p.Gln510Lys)
c.15C>A
c.1480C>A (p.Gln494Lys)
c.782C>A
n.252C>A
 gnomAD v4
1g.153812025C>ACA420859385GATAD2Bc.1527G>T (p.Arg509=)
c.14G>T
c.1479G>T (p.Arg493=)
c.781G>T
n.251G>T
 dbSNP gnomAD v2 gnomAD v4
1g.153812025C=CA2480600235GATAD2Bc.1527G= (p.Arg509=)
c.14G=
c.1479G= (p.Arg493=)
c.781G=
n.251G=
1g.153812025C>GCA420859386GATAD2Bc.1527G>C (p.Arg509=)
c.14G>C
c.1479G>C (p.Arg493=)
c.781G>C
n.251G>C
1g.153812025C>TCA420859388GATAD2Bc.1527G>A (p.Arg509=)
c.14G>A
c.1479G>A (p.Arg493=)
c.781G>A
n.251G>A
 gnomAD v4
1g.153812026C>ACA342581081GATAD2Bc.1526G>T (p.Arg509Leu)
c.13G>T
c.1478G>T (p.Arg493Leu)
c.780G>T
n.250G>T
 gnomAD v4
1g.153812026C=CA1144197394GATAD2Bc.1526G= (p.Arg509=)
c.13G=
c.1478G= (p.Arg493=)
c.780G=
n.250G=
1g.153812026C>GCA342581082GATAD2Bc.1526G>C (p.Arg509Pro)
c.13G>C
c.1478G>C (p.Arg493Pro)
c.780G>C
n.250G>C
 ClinVar
1g.153812026C>TCA30755242GATAD2Bc.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
1g.153812027G>ACA342581083GATAD2Bc.1525C>T (p.Arg509Trp)
c.12C>T
c.1477C>T (p.Arg493Trp)
c.779C>T
n.249C>T
 gnomAD v4
1g.153812027G>CCA342581084GATAD2Bc.1525C>G (p.Arg509Gly)
c.12C>G
c.1477C>G (p.Arg493Gly)
c.779C>G
n.249C>G
1g.153812027G>TCA420859395GATAD2Bc.1525C>A (p.Arg509=)
c.12C>A
c.1477C>A (p.Arg493=)
c.779C>A
n.249C>A
 gnomAD v4
1g.153812028A>CCA420859399GATAD2Bc.1524T>G (p.Leu508=)
c.11T>G
c.1476T>G (p.Leu492=)
c.778T>G
n.248T>G
1g.153812028A>GCA420859401GATAD2Bc.1524T>C (p.Leu508=)
c.11T>C
c.1476T>C (p.Leu492=)
c.778T>C
n.248T>C
1g.153812028A>TCA420859403GATAD2Bc.1524T>A (p.Leu508=)
c.11T>A
c.1476T>A (p.Leu492=)
c.778T>A
n.248T>A
1g.153812029A>CCA342581087GATAD2Bc.1523T>G (p.Leu508Arg)
c.10T>G
c.1475T>G (p.Leu492Arg)
c.777T>G
n.247T>G
 gnomAD v4
1g.153812029A>GCA342581085GATAD2Bc.1523T>C (p.Leu508Pro)
c.10T>C
c.1475T>C (p.Leu492Pro)
c.777T>C
n.247T>C
 gnomAD v4
1g.153812029A>TCA342581086GATAD2Bc.1523T>A (p.Leu508His)
c.10T>A
c.1475T>A (p.Leu492His)
c.777T>A
n.247T>A
1g.153812030G>ACA342581088GATAD2Bc.1522C>T (p.Leu508Phe)
c.9C>T
c.1474C>T (p.Leu492Phe)
c.776C>T
n.246C>T
1g.153812030G>CCA342581089GATAD2Bc.1522C>G (p.Leu508Val)
c.9C>G
c.1474C>G (p.Leu492Val)
c.776C>G
n.246C>G
 ClinVar
1g.153812030G>TCA342581090GATAD2Bc.1522C>A (p.Leu508Ile)
c.9C>A
c.1474C>A (p.Leu492Ile)
c.776C>A
n.246C>A
 gnomAD v4
1g.153812031C>ACA420859410GATAD2Bc.1521G>T (p.Thr507=)
c.8G>T
c.1473G>T (p.Thr491=)
c.775G>T
n.245G>T
1g.153812031C=CA2480600236GATAD2Bc.1521G= (p.Thr507=)
c.8G=
c.1473G= (p.Thr491=)
c.775G=
n.245G=
1g.153812031C>GCA1120629GATAD2Bc.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
1g.153812031C>TCA1120628GATAD2Bc.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
1g.153812032G>ACA1120630GATAD2Bc.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
1g.153812032G>CCA342581091GATAD2Bc.1520C>G (p.Thr507Arg)
c.7C>G
c.1472C>G (p.Thr491Arg)
c.774C>G
n.244C>G
1g.153812032G=CA2480600237GATAD2Bc.1520C= (p.Thr507=)
c.7C=
c.1472C= (p.Thr491=)
c.774C=
n.244C=
1g.153812032G>TCA342581092GATAD2Bc.1520C>A (p.Thr507Lys)
c.7C>A
c.1472C>A (p.Thr491Lys)
c.774C>A
n.244C>A
 gnomAD v4
1g.153812033T>ACA342581093GATAD2Bc.1519A>T (p.Thr507Ser)
c.6A>T
c.1471A>T (p.Thr491Ser)
c.773A>T
n.243A>T
1g.153812033T>CCA342581094GATAD2Bc.1519A>G (p.Thr507Ala)
c.6A>G
c.1471A>G (p.Thr491Ala)
c.773A>G
n.243A>G
1g.153812033T>GCA342581095GATAD2Bc.1519A>C (p.Thr507Pro)
c.6A>C
c.1471A>C (p.Thr491Pro)
c.773A>C
n.243A>C
1g.153812033_153812036delinsTATGCA2480600238GATAD2Bc.1516_1519delinsCATA (p.His506=)
c.3_6delinsCATA
c.1468_1471delinsCATA (p.His490=)
c.770_773delinsCATA
n.240_243delinsCATA
1g.153812034A=CA2480600239GATAD2Bc.1518T= (p.His506=)
c.5T=
c.1470T= (p.His490=)
c.772T=
n.242T=
1g.153812034A>CCA1120631GATAD2Bc.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
1g.153812034A>GCA420859426GATAD2Bc.1518T>C (p.His506=)
c.5T>C
c.1470T>C (p.His490=)
c.772T>C
n.242T>C
 gnomAD v4
1g.153812034A>TCA342581096GATAD2Bc.1518T>A (p.His506Gln)
c.5T>A
c.1470T>A (p.His490Gln)
c.772T>A
n.242T>A
1g.153812037_153812039delCA526382883GATAD2Bc.1516_1518del (p.His506del)
c.1468_1470del (p.His490del)
c.770_772del
n.240_242del
 dbSNP gnomAD v2
1g.153812035T>ACA342581099GATAD2Bc.1517A>T (p.His506Leu)
c.4A>T
c.1469A>T (p.His490Leu)
c.771A>T
n.241A>T
1g.153812035T>CCA342581098GATAD2Bc.1517A>G (p.His506Arg)
c.4A>G
c.1469A>G (p.His490Arg)
c.771A>G
n.241A>G
1g.153812035T>GCA342581097GATAD2Bc.1517A>C (p.His506Pro)
c.4A>C
c.1469A>C (p.His490Pro)
c.771A>C
n.241A>C
 dbSNP gnomAD v3 gnomAD v4
1g.153812035T=CA2480600240GATAD2Bc.1517A= (p.His506=)
c.4A=
c.1469A= (p.His490=)
c.771A=
n.241A=
1g.153812036G>ACA342581100GATAD2Bc.1516C>T (p.His506Tyr)
c.3C>T
c.1468C>T (p.His490Tyr)
c.770C>T
n.240C>T
1g.153812036G>CCA342581101GATAD2Bc.1516C>G (p.His506Asp)
c.3C>G
c.1468C>G (p.His490Asp)
c.770C>G
n.240C>G
1g.153812036G>TCA342581102GATAD2Bc.1516C>A (p.His506Asn)
c.3C>A
c.1468C>A (p.His490Asn)
c.770C>A
n.240C>A
 gnomAD v4
1g.153812037A>CCA342581103GATAD2Bc.1515T>G (p.His505Gln)
c.2T>G
c.1467T>G (p.His489Gln)
c.769T>G
n.239T>G
1g.153812037A>GCA420859439GATAD2Bc.1515T>C (p.His505=)
c.2T>C
c.1467T>C (p.His489=)
c.769T>C
n.239T>C
1g.153812037A>TCA342581104GATAD2Bc.1515T>A (p.His505Gln)
c.2T>A
c.1467T>A (p.His489Gln)
c.769T>A
n.239T>A
1g.153812038T>ACA342581105GATAD2Bc.1514A>T (p.His505Leu)
c.1A>T
c.1466A>T (p.His489Leu)
c.768A>T
n.238A>T
1g.153812038T>CCA342581106GATAD2Bc.1514A>G (p.His505Arg)
c.1A>G
c.1466A>G (p.His489Arg)
c.768A>G
n.238A>G
1g.153812038T>GCA342581107GATAD2Bc.1514A>C (p.His505Pro)
c.1A>C
c.1466A>C (p.His489Pro)
c.768A>C
n.238A>C
1g.153812039G>ACA342581108GATAD2Bc.1513C>T (p.His505Tyr)
c.1465C>T (p.His489Tyr)
c.767C>T
n.237C>T
 gnomAD v4
1g.153812039G>CCA342581109GATAD2Bc.1513C>G (p.His505Asp)
c.1465C>G (p.His489Asp)
c.767C>G
n.237C>G
1g.153812039G>TCA342581110GATAD2Bc.1513C>A (p.His505Asn)
c.1465C>A (p.His489Asn)
c.767C>A
n.237C>A
 gnomAD v4
1g.153812040T>ACA342581111GATAD2Bc.1512A>T (p.Arg504Ser)
c.1464A>T (p.Arg488Ser)
c.766A>T
n.236A>T
1g.153812040T>CCA420859453GATAD2Bc.1512A>G (p.Arg504=)
c.1464A>G (p.Arg488=)
c.766A>G
n.236A>G
1g.153812040T>GCA342581112GATAD2Bc.1512A>C (p.Arg504Ser)
c.1464A>C (p.Arg488Ser)
c.766A>C
n.236A>C
1g.153812041C>ACA342581114GATAD2Bc.1511G>T (p.Arg504Ile)
c.1463G>T (p.Arg488Ile)
c.765G>T
n.235G>T
1g.153812041C>GCA342581115GATAD2Bc.1511G>C (p.Arg504Thr)
c.1463G>C (p.Arg488Thr)
c.765G>C
n.235G>C
1g.153812041C>TCA342581113GATAD2Bc.1511G>A (p.Arg504Lys)
c.1463G>A (p.Arg488Lys)
c.765G>A
n.235G>A
1g.153812042T>ACA342581116GATAD2Bc.1510A>T (p.Arg504Ter)
c.1462A>T (p.Arg488Ter)
c.764A>T
n.234A>T
1g.153812042T>CCA342581117GATAD2Bc.1510A>G (p.Arg504Gly)
c.1462A>G (p.Arg488Gly)
c.764A>G
n.234A>G
1g.153812042T>GCA420859464GATAD2Bc.1510A>C (p.Arg504=)
c.1462A>C (p.Arg488=)
c.764A>C
n.234A>C
1g.153812043C>ACA342581119GATAD2Bc.1509G>T (p.Met503Ile)
c.1461G>T (p.Met487Ile)
c.763G>T
n.233G>T
1g.153812043C>GCA342581121GATAD2Bc.1509G>C (p.Met503Ile)
c.1461G>C (p.Met487Ile)
c.763G>C
n.233G>C
1g.153812043C>TCA342581123GATAD2Bc.1509G>A (p.Met503Ile)
c.1461G>A (p.Met487Ile)
c.763G>A
n.233G>A
 COSMIC
1g.153812044A=CA2480600241GATAD2Bc.1508T= (p.Met503=)
c.1460T= (p.Met487=)
c.762T=
n.232T=
1g.153812044A>CCA342581124GATAD2Bc.1508T>G (p.Met503Arg)
c.1460T>G (p.Met487Arg)
c.762T>G
n.232T>G
 dbSNP gnomAD v2 gnomAD v4
1g.153812044A>GCA342581126GATAD2Bc.1508T>C (p.Met503Thr)
c.1460T>C (p.Met487Thr)
c.762T>C
n.232T>C
 gnomAD v4
1g.153812044A>TCA342581127GATAD2Bc.1508T>A (p.Met503Lys)
c.1460T>A (p.Met487Lys)
c.762T>A
n.232T>A
1g.153812045T>ACA342581128GATAD2Bc.1507A>T (p.Met503Leu)
c.1459A>T (p.Met487Leu)
c.761A>T
n.231A>T
1g.153812045T>CCA342581130GATAD2Bc.1507A>G (p.Met503Val)
c.1459A>G (p.Met487Val)
c.761A>G
n.231A>G
1g.153812045T>GCA342581131GATAD2Bc.1507A>C (p.Met503Leu)
c.1459A>C (p.Met487Leu)
c.761A>C
n.231A>C
1g.153812046G>ACA420859469GATAD2Bc.1506C>T (p.Ile502=)
c.1458C>T (p.Ile486=)
c.760C>T
n.230C>T
1g.153812046G>CCA342581132GATAD2Bc.1506C>G (p.Ile502Met)
c.1458C>G (p.Ile486Met)
c.760C>G
n.230C>G
 gnomAD v4
1g.153812046G>TCA420859473GATAD2Bc.1506C>A (p.Ile502=)
c.1458C>A (p.Ile486=)
c.760C>A
n.230C>A
 gnomAD v4
1g.153812047A>CCA342581138GATAD2Bc.1505T>G (p.Ile502Ser)
c.1457T>G (p.Ile486Ser)
c.759T>G
n.229T>G
1g.153812047A>GCA342581136GATAD2Bc.1505T>C (p.Ile502Thr)
c.1457T>C (p.Ile486Thr)
c.759T>C
n.229T>C
1g.153812047A>TCA342581134GATAD2Bc.1505T>A (p.Ile502Asn)
c.1457T>A (p.Ile486Asn)
c.759T>A
n.229T>A
1g.153812048T>ACA342581139GATAD2Bc.1504A>T (p.Ile502Phe)
c.1456A>T (p.Ile486Phe)
c.758A>T
n.228A>T
1g.153812048T>CCA342581140GATAD2Bc.1504A>G (p.Ile502Val)
c.1456A>G (p.Ile486Val)
c.758A>G
n.228A>G
 ClinVar
1g.153812048T>GCA342581141GATAD2Bc.1504A>C (p.Ile502Leu)
c.1456A>C (p.Ile486Leu)
c.758A>C
n.228A>C
1g.153812049G>ACA1120632GATAD2Bc.1503C>T (p.Thr501=)
c.1455C>T (p.Thr485=)
c.757C>T
n.227C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.153812049G>CCA420859486GATAD2Bc.1503C>G (p.Thr501=)
c.1455C>G (p.Thr485=)
c.757C>G
n.227C>G
1g.153812049G=CA2480600242GATAD2Bc.1503C= (p.Thr501=)
c.1455C= (p.Thr485=)
c.757C=
n.227C=
1g.153812049G>TCA420859488GATAD2Bc.1503C>A (p.Thr501=)
c.1455C>A (p.Thr485=)
c.757C>A
n.227C>A
1g.153812050G>ACA342581143GATAD2Bc.1502C>T (p.Thr501Ile)
c.1454C>T (p.Thr485Ile)
c.756C>T
n.226C>T
 gnomAD v4
1g.153812050G>CCA342581145GATAD2Bc.1502C>G (p.Thr501Ser)
c.1454C>G (p.Thr485Ser)
c.756C>G
n.226C>G
 ClinVar
1g.153812050G>TCA342581147GATAD2Bc.1502C>A (p.Thr501Asn)
c.1454C>A (p.Thr485Asn)
c.756C>A
n.226C>A
1g.153812051T>ACA342581148GATAD2Bc.1501A>T (p.Thr501Ser)
c.1453A>T (p.Thr485Ser)
c.755A>T
n.225A>T
1g.153812051T>CCA1120633GATAD2Bc.1501A>G (p.Thr501Ala)
c.1453A>G (p.Thr485Ala)
c.755A>G
n.225A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.153812051T>GCA342581149GATAD2Bc.1501A>C (p.Thr501Pro)
c.1453A>C (p.Thr485Pro)
c.755A>C
n.225A>C
1g.153812051T=CA1143706270GATAD2Bc.1501A= (p.Thr501=)
c.1453A= (p.Thr485=)
c.755A=
n.225A=
1g.153812052C>ACA342581150GATAD2Bc.1500G>T (p.Glu500Asp)
c.1452G>T (p.Glu484Asp)
c.754G>T
n.224G>T
1g.153812052C>GCA342581152GATAD2Bc.1500G>C (p.Glu500Asp)
c.1452G>C (p.Glu484Asp)
c.754G>C
n.224G>C
1g.153812052C>TCA420859502GATAD2Bc.1500G>A (p.Glu500=)
c.1452G>A (p.Glu484=)
c.754G>A
n.224G>A
1g.153812053T>ACA342581155GATAD2Bc.1499A>T (p.Glu500Val)
c.1451A>T (p.Glu484Val)
c.753A>T
n.223A>T
1g.153812053T>CCA342581156GATAD2Bc.1499A>G (p.Glu500Gly)
c.1451A>G (p.Glu484Gly)
c.753A>G
n.223A>G
1g.153812053T>GCA342581153GATAD2Bc.1499A>C (p.Glu500Ala)
c.1451A>C (p.Glu484Ala)
c.753A>C
n.223A>C
1g.153812054C>ACA342581158GATAD2Bc.1498G>T (p.Glu500Ter)
c.1450G>T (p.Glu484Ter)
c.752G>T
n.222G>T
1g.153812054C>GCA342581159GATAD2Bc.1498G>C (p.Glu500Gln)
c.1450G>C (p.Glu484Gln)
c.752G>C
n.222G>C
1g.153812054C>TCA342581161GATAD2Bc.1498G>A (p.Glu500Lys)
c.1450G>A (p.Glu484Lys)
c.752G>A
n.222G>A
1g.153812055T>ACA342581162GATAD2Bc.1497A>T (p.Gln499His)
c.1449A>T (p.Gln483His)
c.751A>T
n.221A>T
1g.153812055T>CCA420859512GATAD2Bc.1497A>G (p.Gln499=)
c.1449A>G (p.Gln483=)
c.751A>G
n.221A>G
 gnomAD v4
1g.153812055T>GCA342581163GATAD2Bc.1497A>C (p.Gln499His)
c.1449A>C (p.Gln483His)
c.751A>C
n.221A>C
1g.153812056T>ACA342581165GATAD2Bc.1496A>T (p.Gln499Leu)
c.1448A>T (p.Gln483Leu)
c.750A>T
n.220A>T
1g.153812056T>CCA342581167GATAD2Bc.1496A>G (p.Gln499Arg)
c.1448A>G (p.Gln483Arg)
c.750A>G
n.220A>G
 dbSNP
1g.153812056T>GCA342581169GATAD2Bc.1496A>C (p.Gln499Pro)
c.1448A>C (p.Gln483Pro)
c.750A>C
n.220A>C
 gnomAD v4
1g.153812056T=CA2480600243GATAD2Bc.1496A= (p.Gln499=)
c.1448A= (p.Gln483=)
c.750A=
n.220A=
1g.153812057G>ACA342581170GATAD2Bc.1495C>T (p.Gln499Ter)
c.1447C>T (p.Gln483Ter)
c.749C>T
n.219C>T
1g.153812057G>CCA342581172GATAD2Bc.1495C>G (p.Gln499Glu)
c.1447C>G (p.Gln483Glu)
c.749C>G
n.219C>G
1g.153812057G>TCA342581174GATAD2Bc.1495C>A (p.Gln499Lys)
c.1447C>A (p.Gln483Lys)
c.749C>A
n.219C>A
1g.153812058T>ACA342581175GATAD2Bc.1494A>T (p.Lys498Asn)
c.1446A>T (p.Lys482Asn)
c.748A>T
n.218A>T
1g.153812058T>CCA420859526GATAD2Bc.1494A>G (p.Lys498=)
c.1446A>G (p.Lys482=)
c.748A>G
n.218A>G
1g.153812058T>GCA342581176GATAD2Bc.1494A>C (p.Lys498Asn)
c.1446A>C (p.Lys482Asn)
c.748A>C
n.218A>C
1g.153812059T>ACA342581180GATAD2Bc.1493A>T (p.Lys498Ile)
c.1445A>T (p.Lys482Ile)
c.747A>T
n.217A>T
1g.153812059T>CCA342581178GATAD2Bc.1493A>G (p.Lys498Arg)
c.1445A>G (p.Lys482Arg)
c.747A>G
n.217A>G
1g.153812059T>GCA342581177GATAD2Bc.1493A>C (p.Lys498Thr)
c.1445A>C (p.Lys482Thr)
c.747A>C
n.217A>C
1g.153812060T>ACA342581182GATAD2Bc.1492A>T (p.Lys498Ter)
c.1444A>T (p.Lys482Ter)
c.746A>T
n.216A>T
1g.153812060T>CCA342581184GATAD2Bc.1492A>G (p.Lys498Glu)
c.1444A>G (p.Lys482Glu)
c.746A>G
n.216A>G
1g.153812060T>GCA342581185GATAD2Bc.1492A>C (p.Lys498Gln)
c.1444A>C (p.Lys482Gln)
c.746A>C
n.216A>C
1g.153812061A>CCA342581186GATAD2Bc.1491T>G (p.Ser497Arg)
c.1443T>G (p.Ser481Arg)
c.745T>G
n.215T>G
1g.153812061A>GCA420859541GATAD2Bc.1491T>C (p.Ser497=)
c.1443T>C (p.Ser481=)
c.745T>C
n.215T>C
 gnomAD v4
1g.153812061A>TCA342581188GATAD2Bc.1491T>A (p.Ser497Arg)
c.1443T>A (p.Ser481Arg)
c.745T>A
n.215T>A
1g.153812062C>ACA342581190GATAD2Bc.1490G>T (p.Ser497Ile)
c.1442G>T (p.Ser481Ile)
c.744G>T
n.214G>T
1g.153812062C>GCA342581191GATAD2Bc.1490G>C (p.Ser497Thr)
c.1442G>C (p.Ser481Thr)
c.744G>C
n.214G>C
1g.153812062C>TCA342581193GATAD2Bc.1490G>A (p.Ser497Asn)
c.1442G>A (p.Ser481Asn)
c.744G>A
n.214G>A
1g.153812063T>ACA342581194GATAD2Bc.1489A>T (p.Ser497Cys)
c.1441A>T (p.Ser481Cys)
c.743A>T
n.213A>T
1g.153812063T>CCA1120634GATAD2Bc.1489A>G (p.Ser497Gly)
c.1441A>G (p.Ser481Gly)
c.743A>G
n.213A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.153812063T>GCA342581200GATAD2Bc.1489A>C (p.Ser497Arg)
c.1441A>C (p.Ser481Arg)
c.743A>C
n.213A>C
1g.153812063T=CA1148392557GATAD2Bc.1489A= (p.Ser497=)
c.1441A= (p.Ser481=)
c.743A=
n.213A=
1g.153812064delCA2573907683GATAD2Bc.1488del (p.Ser497ValfsTer7)
c.1440del (p.Ser481ValfsTer7)
c.742del
n.212del
1g.153812064G>ACA1120635GATAD2Bc.1488C>T (p.Val496=)
c.1440C>T (p.Val480=)
c.742C>T
n.212C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.153812064G>CCA420859554GATAD2Bc.1488C>G (p.Val496=)
c.1440C>G (p.Val480=)
c.742C>G
n.212C>G
1g.153812064G=CA2480600244GATAD2Bc.1488C= (p.Val496=)
c.1440C= (p.Val480=)
c.742C=
n.212C=
1g.153812064G>TCA420859555GATAD2Bc.1488C>A (p.Val496=)
c.1440C>A (p.Val480=)
c.742C>A
n.212C>A
1g.153812065A>CCA342581210GATAD2Bc.1487T>G (p.Val496Gly)
c.1439T>G (p.Val480Gly)
c.741T>G
n.211T>G
1g.153812065A>GCA342581208GATAD2Bc.1487T>C (p.Val496Ala)
c.1439T>C (p.Val480Ala)
c.741T>C
n.211T>C
1g.153812065A>TCA342581202GATAD2Bc.1487T>A (p.Val496Asp)
c.1439T>A (p.Val480Asp)
c.741T>A
n.211T>A
1g.153812066C>ACA342581212GATAD2Bc.1486G>T (p.Val496Phe)
c.1438G>T (p.Val480Phe)
c.740G>T
n.210G>T
1g.153812066C=CA2480600245GATAD2Bc.1486G= (p.Val496=)
c.1438G= (p.Val480=)
c.740G=
n.210G=
1g.153812066C>GCA342581222GATAD2Bc.1486G>C (p.Val496Leu)
c.1438G>C (p.Val480Leu)
c.740G>C
n.210G>C
1g.153812066C>TCA342581214GATAD2Bc.1486G>A (p.Val496Ile)
c.1438G>A (p.Val480Ile)
c.740G>A
n.210G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.153812067A>CCA342581223GATAD2Bc.1485T>G (p.Ser495Arg)
c.1437T>G (p.Ser479Arg)
c.739T>G
n.209T>G
1g.153812067A>GCA420859568GATAD2Bc.1485T>C (p.Ser495=)
c.1437T>C (p.Ser479=)
c.739T>C
n.209T>C
 gnomAD v4
1g.153812067A>TCA342581224GATAD2Bc.1485T>A (p.Ser495Arg)
c.1437T>A (p.Ser479Arg)
c.739T>A
n.209T>A
1g.153812068C>ACA342581225GATAD2Bc.1484G>T (p.Ser495Ile)
c.1436G>T (p.Ser479Ile)
c.738G>T
n.208G>T
1g.153812068C=CA1145085510GATAD2Bc.1484G= (p.Ser495=)
c.1436G= (p.Ser479=)
c.738G=
n.208G=
1g.153812068C>GCA1120636GATAD2Bc.1484G>C (p.Ser495Thr)
c.1436G>C (p.Ser479Thr)
c.738G>C
n.208G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.153812068C>TCA342581226GATAD2Bc.1484G>A (p.Ser495Asn)
c.1436G>A (p.Ser479Asn)
c.738G>A
n.208G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.153812069T>ACA342581227GATAD2Bc.1483A>T (p.Ser495Cys)
c.1435A>T (p.Ser479Cys)
c.737A>T
n.207A>T
 gnomAD v4
1g.153812069T>CCA342581228GATAD2Bc.1483A>G (p.Ser495Gly)
c.1435A>G (p.Ser479Gly)
c.737A>G
n.207A>G
 dbSNP gnomAD v2 gnomAD v4
1g.153812069T>GCA342581229GATAD2Bc.1483A>C (p.Ser495Arg)
c.1435A>C (p.Ser479Arg)
c.737A>C
n.207A>C
1g.153812069T=CA2480600246GATAD2Bc.1483A= (p.Ser495=)
c.1435A= (p.Ser479=)
c.737A=
n.207A=
1g.153812070G>ACA420859579GATAD2Bc.1482C>T (p.Ser494=)
c.1434C>T (p.Ser478=)
c.736C>T
n.206C>T
 ClinVar dbSNP
1g.153812070G>CCA420859581GATAD2Bc.1482C>G (p.Ser494=)
c.1434C>G (p.Ser478=)
c.736C>G
n.206C>G
1g.153812070G>TCA420859583GATAD2Bc.1482C>A (p.Ser494=)
c.1434C>A (p.Ser478=)
c.736C>A
n.206C>A
1g.153812071G>ACA342581231GATAD2Bc.1481C>T (p.Ser494Phe)
c.1433C>T (p.Ser478Phe)
c.735C>T
n.205C>T
 gnomAD v4
1g.153812071G>CCA342581232GATAD2Bc.1481C>G (p.Ser494Cys)
c.1433C>G (p.Ser478Cys)
c.735C>G
n.205C>G
1g.153812071G>TCA342581233GATAD2Bc.1481C>A (p.Ser494Tyr)
c.1433C>A (p.Ser478Tyr)
c.735C>A
n.205C>A
1g.153812072A=CA1148896804GATAD2Bc.1480T= (p.Ser494=)
c.1432T= (p.Ser478=)
c.734T=
n.204T=
1g.153812072A>CCA342581235GATAD2Bc.1480T>G (p.Ser494Ala)
c.1432T>G (p.Ser478Ala)
c.734T>G
n.204T>G
1g.153812072A>GCA1120637GATAD2Bc.1480T>C (p.Ser494Pro)
c.1432T>C (p.Ser478Pro)
c.734T>C
n.204T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.153812072A>TCA342581234GATAD2Bc.1480T>A (p.Ser494Thr)
c.1432T>A (p.Ser478Thr)
c.734T>A
n.204T>A
 dbSNP gnomAD v3 gnomAD v4
1g.153812073C>ACA420859595GATAD2Bc.1479G>T (p.Val493=)
c.1431G>T (p.Val477=)
c.733G>T
n.203G>T
1g.153812073C>GCA420859600GATAD2Bc.1479G>C (p.Val493=)
c.1431G>C (p.Val477=)
c.733G>C
n.203G>C
1g.153812073C>TCA420859597GATAD2Bc.1479G>A (p.Val493=)
c.1431G>A (p.Val477=)
c.733G>A
n.203G>A
 ClinVar
1g.153812074A>CCA342581236GATAD2Bc.1478T>G (p.Val493Gly)
c.1430T>G (p.Val477Gly)
c.732T>G
n.202T>G
1g.153812074A>GCA342581238GATAD2Bc.1478T>C (p.Val493Ala)
c.1430T>C (p.Val477Ala)
c.732T>C
n.202T>C
1g.153812074A>TCA342581239GATAD2Bc.1478T>A (p.Val493Glu)
c.1430T>A (p.Val477Glu)
c.732T>A
n.202T>A
1g.153812075C>ACA342581240GATAD2Bc.1477G>T (p.Val493Leu)
c.1429G>T (p.Val477Leu)
c.731G>T
n.201G>T
 COSMIC
1g.153812075C=CA2480600247GATAD2Bc.1477G= (p.Val493=)
c.1429G= (p.Val477=)
c.731G=
n.201G=
1g.153812075C>GCA342581242GATAD2Bc.1477G>C (p.Val493Leu)
c.1429G>C (p.Val477Leu)
c.731G>C
n.201G>C
 gnomAD v4
1g.153812075C>TCA342581243GATAD2Bc.1477G>A (p.Val493Met)
c.1429G>A (p.Val477Met)
c.731G>A
n.201G>A
 dbSNP gnomAD v2 gnomAD v4
1g.153812076A>CCA420859609GATAD2Bc.1476T>G (p.Ala492=)
c.1428T>G (p.Ala476=)
c.730T>G
n.200T>G
1g.153812076A>GCA420859612GATAD2Bc.1476T>C (p.Ala492=)
c.1428T>C (p.Ala476=)
c.730T>C
n.200T>C
1g.153812076A>TCA420859614GATAD2Bc.1476T>A (p.Ala492=)
c.1428T>A (p.Ala476=)
c.730T>A
n.200T>A
1g.153812077G>ACA342581244GATAD2Bc.1475C>T (p.Ala492Val)
c.1427C>T (p.Ala476Val)
c.729C>T
n.199C>T
 ClinVar dbSNP gnomAD v4
1g.153812077G>CCA342581245GATAD2Bc.1475C>G (p.Ala492Gly)
c.1427C>G (p.Ala476Gly)
c.729C>G
n.199C>G
1g.153812077G=CA2480600248GATAD2Bc.1475C= (p.Ala492=)
c.1427C= (p.Ala476=)
c.729C=
n.199C=
1g.153812077G>TCA342581246GATAD2Bc.1475C>A (p.Ala492Asp)
c.1427C>A (p.Ala476Asp)
c.729C>A
n.199C>A
1g.153812078C>ACA342581247GATAD2Bc.1474G>T (p.Ala492Ser)
c.1426G>T (p.Ala476Ser)
c.728G>T
n.198G>T
1g.153812078C>GCA342581248GATAD2Bc.1474G>C (p.Ala492Pro)
c.1426G>C (p.Ala476Pro)
c.728G>C
n.198G>C
1g.153812078C>TCA342581249GATAD2Bc.1474G>A (p.Ala492Thr)
c.1426G>A (p.Ala476Thr)
c.728G>A
n.198G>A
1g.153812079T>ACA420859625GATAD2Bc.1473A>T (p.Pro491=)
c.1425A>T (p.Pro475=)
c.727A>T
n.197A>T
1g.153812079T>CCA30755279GATAD2Bc.1473A>G (p.Pro491=)
c.1425A>G (p.Pro475=)
c.727A>G
n.197A>G
 dbSNP gnomAD v4
1g.153812079T>GCA420859628GATAD2Bc.1473A>C (p.Pro491=)
c.1425A>C (p.Pro475=)
c.727A>C
n.197A>C
1g.153812079T=CA2480600249GATAD2Bc.1473A= (p.Pro491=)
c.1425A= (p.Pro475=)
c.727A=
n.197A=
1g.153812080G>ACA342581254GATAD2Bc.1472C>T (p.Pro491Leu)
c.1424C>T (p.Pro475Leu)
c.726C>T
n.196C>T
1g.153812080G>CCA342581252GATAD2Bc.1472C>G (p.Pro491Arg)
c.1424C>G (p.Pro475Arg)
c.726C>G
n.196C>G
1g.153812080G>TCA342581251GATAD2Bc.1472C>A (p.Pro491Gln)
c.1424C>A (p.Pro475Gln)
c.726C>A
n.196C>A
1g.153812081G>ACA342581258GATAD2Bc.1471C>T (p.Pro491Ser)
c.1423C>T (p.Pro475Ser)
c.725C>T
n.195C>T
1g.153812081G>CCA342581255GATAD2Bc.1471C>G (p.Pro491Ala)
c.1423C>G (p.Pro475Ala)
c.725C>G
n.195C>G
1g.153812081G>TCA342581257GATAD2Bc.1471C>A (p.Pro491Thr)
c.1423C>A (p.Pro475Thr)
c.725C>A
n.195C>A
1g.153812082A>CCA420859638GATAD2Bc.1470T>G (p.Ala490=)
c.1422T>G (p.Ala474=)
c.724T>G
n.194T>G
1g.153812082A>GCA420859640GATAD2Bc.1470T>C (p.Ala490=)
c.1422T>C (p.Ala474=)
c.724T>C
n.194T>C
1g.153812082A>TCA420859642GATAD2Bc.1470T>A (p.Ala490=)
c.1422T>A (p.Ala474=)
c.724T>A
n.194T>A
1g.153812083G>ACA209126GATAD2Bc.1469C>T (p.Ala490Val)
c.1421C>T (p.Ala474Val)
c.723C>T
n.193C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.153812083G>CCA342581260GATAD2Bc.1469C>G (p.Ala490Gly)
c.1421C>G (p.Ala474Gly)
c.723C>G
n.193C>G
1g.153812083G=CA1142034927GATAD2Bc.1469C= (p.Ala490=)
c.1421C= (p.Ala474=)
c.723C=
n.193C=
1g.153812083G>TCA342581262GATAD2Bc.1469C>A (p.Ala490Asp)
c.1421C>A (p.Ala474Asp)
c.723C>A
n.193C>A
1g.153812084C>ACA342581263GATAD2Bc.1468G>T (p.Ala490Ser)
c.1420G>T (p.Ala474Ser)
c.722G>T
n.192G>T
1g.153812084C=CA2480600250GATAD2Bc.1468G= (p.Ala490=)
c.1420G= (p.Ala474=)
c.722G=
n.192G=
1g.153812084C>GCA342581265GATAD2Bc.1468G>C (p.Ala490Pro)
c.1420G>C (p.Ala474Pro)
c.722G>C
n.192G>C
1g.153812084C>TCA1120638GATAD2Bc.1468G>A (p.Ala490Thr)
c.1420G>A (p.Ala474Thr)
c.722G>A
n.192G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.153812085C>ACA420859656GATAD2Bc.1467G>T (p.Thr489=)
c.1419G>T (p.Thr473=)
c.721G>T
n.191G>T
 dbSNP gnomAD v4
1g.153812085C=CA2480600251GATAD2Bc.1467G= (p.Thr489=)
c.1419G= (p.Thr473=)
c.721G=
n.191G=
1g.153812085C>GCA420859669GATAD2Bc.1467G>C (p.Thr489=)
c.1419G>C (p.Thr473=)
c.721G>C
n.191G>C
1g.153812085C>TCA1120639GATAD2Bc.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
1g.153812086G>ACA342581269GATAD2Bc.1466C>T (p.Thr489Met)
c.1418C>T (p.Thr473Met)
c.720C>T
n.190C>T
 dbSNP gnomAD v3 gnomAD v4
1g.153812086G>CCA342581270GATAD2Bc.1466C>G (p.Thr489Arg)
c.1418C>G (p.Thr473Arg)
c.720C>G
n.190C>G
 dbSNP gnomAD v2 gnomAD v4
1g.153812086G=CA2480600252GATAD2Bc.1466C= (p.Thr489=)
c.1418C= (p.Thr473=)
c.720C=
n.190C=
1g.153812086G>TCA342581272GATAD2Bc.1466C>A (p.Thr489Lys)
c.1418C>A (p.Thr473Lys)
c.720C>A
n.190C>A
1g.153812087T>ACA342581275GATAD2Bc.1465A>T (p.Thr489Ser)
c.1417A>T (p.Thr473Ser)
c.719A>T
n.189A>T
1g.153812087T>CCA1120640GATAD2Bc.1465A>G (p.Thr489Ala)
c.1417A>G (p.Thr473Ala)
c.719A>G
n.189A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.153812087T>GCA342581273GATAD2Bc.1465A>C (p.Thr489Pro)
c.1417A>C (p.Thr473Pro)
c.719A>C
n.189A>C
1g.153812087T=CA2480600253GATAD2Bc.1465A= (p.Thr489=)
c.1417A= (p.Thr473=)
c.719A=
n.189A=
1g.153812088A=CA2480600254GATAD2Bc.1464T= (p.Thr488=)
c.1416T= (p.Thr472=)
c.718T=
n.188T=
1g.153812088A>CCA420859683GATAD2Bc.1464T>G (p.Thr488=)
c.1416T>G (p.Thr472=)
c.718T>G
n.188T>G
1g.153812088A>GCA420859685GATAD2Bc.1464T>C (p.Thr488=)
c.1416T>C (p.Thr472=)
c.718T>C
n.188T>C
 dbSNP gnomAD v4
1g.153812088A>TCA420859688GATAD2Bc.1464T>A (p.Thr488=)
c.1416T>A (p.Thr472=)
c.718T>A
n.188T>A
 dbSNP gnomAD v2 gnomAD v4
1g.153812089G>ACA342581278GATAD2Bc.1463C>T (p.Thr488Ile)
c.1415C>T (p.Thr472Ile)
c.717C>T
n.187C>T
 gnomAD v4
1g.153812089G>CCA342581279GATAD2Bc.1463C>G (p.Thr488Ser)
c.1415C>G (p.Thr472Ser)
c.717C>G
n.187C>G
1g.153812089G>TCA342581281GATAD2Bc.1463C>A (p.Thr488Asn)
c.1415C>A (p.Thr472Asn)
c.717C>A
n.187C>A
1g.153812090T>ACA342581283GATAD2Bc.1462A>T (p.Thr488Ser)
c.1414A>T (p.Thr472Ser)
c.716A>T
n.186A>T
1g.153812090T>CCA342581286GATAD2Bc.1462A>G (p.Thr488Ala)
c.1414A>G (p.Thr472Ala)
c.716A>G
n.186A>G
 dbSNP gnomAD v3 gnomAD v4
1g.153812090T>GCA342581287GATAD2Bc.1462A>C (p.Thr488Pro)
c.1414A>C (p.Thr472Pro)
c.716A>C
n.186A>C
1g.153812090T=CA2480600255GATAD2Bc.1462A= (p.Thr488=)
c.1414A= (p.Thr472=)
c.716A=
n.186A=
1g.153812091G>ACA1120641GATAD2Bc.1461C>T (p.Pro487=)
c.1413C>T (p.Pro471=)
c.715C>T
n.185C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.153812091G>CCA1120642GATAD2Bc.1461C>G (p.Pro487=)
c.1413C>G (p.Pro471=)
c.715C>G
n.185C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.153812091G=CA1144568490GATAD2Bc.1461C= (p.Pro487=)
c.1413C= (p.Pro471=)
c.715C=
n.185C=
1g.153812091G>TCA420859701GATAD2Bc.1461C>A (p.Pro487=)
c.1413C>A (p.Pro471=)
c.715C>A
n.185C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.153812095delCA645532339GATAD2Bc.1461del (p.Thr488LeufsTer16)
c.1413del (p.Thr472LeufsTer16)
c.715del
n.185del
 COSMIC
1g.153812092G>ACA342581290GATAD2Bc.1460C>T (p.Pro487Leu)
c.1412C>T (p.Pro471Leu)
c.714C>T
n.184C>T
1g.153812092G>CCA342581291GATAD2Bc.1460C>G (p.Pro487Arg)
c.1412C>G (p.Pro471Arg)
c.714C>G
n.184C>G
1g.153812092G>TCA342581292GATAD2Bc.1460C>A (p.Pro487His)
c.1412C>A (p.Pro471His)
c.714C>A
n.184C>A
1g.153812093G>ACA342581294GATAD2Bc.1459C>T (p.Pro487Ser)
c.1411C>T (p.Pro471Ser)
c.713C>T
n.183C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.153812093G>CCA342581295GATAD2Bc.1459C>G (p.Pro487Ala)
c.1411C>G (p.Pro471Ala)
c.713C>G
n.183C>G
1g.153812093G=CA2480600256GATAD2Bc.1459C= (p.Pro487=)
c.1411C= (p.Pro471=)
c.713C=
n.183C=
1g.153812093G>TCA342581296GATAD2Bc.1459C>A (p.Pro487Thr)
c.1411C>A (p.Pro471Thr)
c.713C>A
n.183C>A
 gnomAD v4 COSMIC
1g.153812094G>ACA420859713GATAD2Bc.1458C>T (p.Ser486=)
c.1410C>T (p.Ser470=)
c.712C>T
n.182C>T
 ClinVar dbSNP gnomAD v4
1g.153812094G>CCA420859715GATAD2Bc.1458C>G (p.Ser486=)
c.1410C>G (p.Ser470=)
c.712C>G
n.182C>G
1g.153812094G=CA2480600257GATAD2Bc.1458C= (p.Ser486=)
c.1410C= (p.Ser470=)
c.712C=
n.182C=
1g.153812094G>TCA420859711GATAD2Bc.1458C>A (p.Ser486=)
c.1410C>A (p.Ser470=)
c.712C>A
n.182C>A
1g.153812095G>ACA342581298GATAD2Bc.1457C>T (p.Ser486Phe)
c.1409C>T (p.Ser470Phe)
c.711C>T
n.181C>T
1g.153812095G>CCA342581300GATAD2Bc.1457C>G (p.Ser486Cys)
c.1409C>G (p.Ser470Cys)
c.711C>G
n.181C>G
1g.153812095G>TCA342581297GATAD2Bc.1457C>A (p.Ser486Tyr)
c.1409C>A (p.Ser470Tyr)
c.711C>A
n.181C>A
1g.153812096A>CCA342581301GATAD2Bc.1456T>G (p.Ser486Ala)
c.1408T>G (p.Ser470Ala)
c.710T>G
n.180T>G
1g.153812096A>GCA342581305GATAD2Bc.1456T>C (p.Ser486Pro)
c.1408T>C (p.Ser470Pro)
c.710T>C
n.180T>C
1g.153812096A>TCA342581303GATAD2Bc.1456T>A (p.Ser486Thr)
c.1408T>A (p.Ser470Thr)
c.710T>A
n.180T>A
1g.153812097G>ACA1120643GATAD2Bc.1455C>T (p.Leu485=)
c.1407C>T (p.Leu469=)
c.709C>T
n.179C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.153812097G>CCA420859726GATAD2Bc.1455C>G (p.Leu485=)
c.1407C>G (p.Leu469=)
c.709C>G
n.179C>G
1g.153812097G=CA2480600258GATAD2Bc.1455C= (p.Leu485=)
c.1407C= (p.Leu469=)
c.709C=
n.179C=
1g.153812097G>TCA420859725GATAD2Bc.1455C>A (p.Leu485=)
c.1407C>A (p.Leu469=)
c.709C>A
n.179C>A
1g.153812098A>CCA342581307GATAD2Bc.1454T>G (p.Leu485Arg)
c.1406T>G (p.Leu469Arg)
c.708T>G
n.178T>G
1g.153812098A>GCA342581309GATAD2Bc.1454T>C (p.Leu485Pro)
c.1406T>C (p.Leu469Pro)
c.708T>C
n.178T>C
1g.153812098A>TCA342581311GATAD2Bc.1454T>A (p.Leu485His)
c.1406T>A (p.Leu469His)
c.708T>A
n.178T>A
1g.153812099G>ACA1120644GATAD2Bc.1453C>T (p.Leu485Phe)
c.1405C>T (p.Leu469Phe)
c.707C>T
n.177C>T
 dbSNP ExAC gnomAD v2
1g.153812099G>CCA30755300GATAD2Bc.1453C>G (p.Leu485Val)
c.1405C>G (p.Leu469Val)
c.707C>G
n.177C>G
 dbSNP
1g.153812099G=CA2480600259GATAD2Bc.1453C= (p.Leu485=)
c.1405C= (p.Leu469=)
c.707C=
n.177C=
1g.153812099G>TCA342581313GATAD2Bc.1453C>A (p.Leu485Ile)
c.1405C>A (p.Leu469Ile)
c.707C>A
n.177C>A
 COSMIC
1g.153812100G>ACA420859738GATAD2Bc.1452C>T (p.Ala484=)
c.1404C>T (p.Ala468=)
c.706C>T
n.176C>T
 gnomAD v4
1g.153812100G>CCA420859743GATAD2Bc.1452C>G (p.Ala484=)
c.1404C>G (p.Ala468=)
c.706C>G
n.176C>G
1g.153812100G>TCA420859741GATAD2Bc.1452C>A (p.Ala484=)
c.1404C>A (p.Ala468=)
c.706C>A
n.176C>A
1g.153812101G>ACA342581316GATAD2Bc.1451C>T (p.Ala484Val)
c.1403C>T (p.Ala468Val)
c.705C>T
n.175C>T
1g.153812101G>CCA342581317GATAD2Bc.1451C>G (p.Ala484Gly)
c.1403C>G (p.Ala468Gly)
c.705C>G
n.175C>G
1g.153812101G>TCA342581318GATAD2Bc.1451C>A (p.Ala484Asp)
c.1403C>A (p.Ala468Asp)
c.705C>A
n.175C>A
 gnomAD v4
1g.153812102C>ACA342581319GATAD2Bc.1450G>T (p.Ala484Ser)
c.1402G>T (p.Ala468Ser)
c.704G>T
n.174G>T
1g.153812102C>GCA342581321GATAD2Bc.1450G>C (p.Ala484Pro)
c.1402G>C (p.Ala468Pro)
c.704G>C
n.174G>C
1g.153812102C>TCA342581323GATAD2Bc.1450G>A (p.Ala484Thr)
c.1402G>A (p.Ala468Thr)
c.704G>A
n.174G>A
1g.153812103delCA2586967307GATAD2Bc.1449del (p.Ala484ProfsTer20)
c.1401del (p.Ala468ProfsTer20)
c.703del
n.173del
1g.153812103T>ACA420859752GATAD2Bc.1449A>T (p.Ala483=)
c.1401A>T (p.Ala467=)
c.703A>T
n.173A>T
1g.153812103T>CCA420859754GATAD2Bc.1449A>G (p.Ala483=)
c.1401A>G (p.Ala467=)
c.703A>G
n.173A>G
 gnomAD v4
1g.153812103T>GCA420859756GATAD2Bc.1449A>C (p.Ala483=)
c.1401A>C (p.Ala467=)
c.703A>C
n.173A>C

Number of alleles fetched