Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.153813240G>T | CA2567666952 | GATAD2B | c.1419+10C>A (n.1419+10C>A) c.1371+10C>A (n.1371+10C>A) c.673+10C>A | gnomAD v4 |
1 | g.153813243T>C | CA2648089600 | GATAD2B | c.1419+7A>G (n.1419+7A>G) c.1371+7A>G (n.1371+7A>G) c.673+7A>G | gnomAD v4 |
1 | g.153813246T>C | CA889538502 | GATAD2B | c.1419+4A>G (n.1419+4A>G) c.1371+4A>G (n.1371+4A>G) c.673+4A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.153813246T= | CA2480600640 | GATAD2B | c.1419+4A= (n.1419+4A=) c.1371+4A= (n.1371+4A=) c.673+4A= | |
1 | g.153813248A>C | CA342523606 | GATAD2B | c.1419+2T>G (n.1419+2T>G) c.1371+2T>G (n.1371+2T>G) c.673+2T>G | |
1 | g.153813248A>G | CA342523610 | GATAD2B | c.1419+2T>C (n.1419+2T>C) c.1371+2T>C (n.1371+2T>C) c.673+2T>C | |
1 | g.153813248A>T | CA342523608 | GATAD2B | c.1419+2T>A (n.1419+2T>A) c.1371+2T>A (n.1371+2T>A) c.673+2T>A | |
1 | g.153813249C>A | CA342523612 | GATAD2B | c.1419+1G>T (n.1419+1G>T) c.1371+1G>T (n.1371+1G>T) c.673+1G>T | |
1 | g.153813249C= | CA2480600641 | GATAD2B | c.1419+1G= (n.1419+1G=) c.1371+1G= (n.1371+1G=) c.673+1G= | |
1 | g.153813249C>G | CA342523614 | GATAD2B | c.1419+1G>C (n.1419+1G>C) c.1371+1G>C (n.1371+1G>C) c.673+1G>C | |
1 | g.153813249C>T | CA342523616 | GATAD2B | c.1419+1G>A (n.1419+1G>A) c.1371+1G>A (n.1371+1G>A) c.673+1G>A | ClinVar dbSNP gnomAD v4 |
1 | g.153813250C>A | CA342523618 | GATAD2B | c.1419G>T (p.Gln473His) c.1371G>T (p.Gln457His) c.673G>T | |
1 | g.153813250C>G | CA342523620 | GATAD2B | c.1419G>C (p.Gln473His) c.1371G>C (p.Gln457His) c.673G>C | |
1 | g.153813250C>T | CA420830832 | GATAD2B | c.1419G>A (p.Gln473=) c.1371G>A (p.Gln457=) c.673G>A | |
1 | g.153813251T>A | CA342523624 | GATAD2B | c.1418A>T (p.Gln473Leu) c.1370A>T (p.Gln457Leu) c.672A>T | |
1 | g.153813251T>C | CA342523626 | GATAD2B | c.1418A>G (p.Gln473Arg) c.1370A>G (p.Gln457Arg) c.672A>G | gnomAD v4 |
1 | g.153813251T>G | CA342523629 | GATAD2B | c.1418A>C (p.Gln473Pro) c.1370A>C (p.Gln457Pro) c.672A>C | |
1 | g.153813252G>A | CA342523632 | GATAD2B | c.1417C>T (p.Gln473Ter) c.1369C>T (p.Gln457Ter) c.671C>T | ClinVar dbSNP |
1 | g.153813252G>C | CA342523634 | GATAD2B | c.1417C>G (p.Gln473Glu) c.1369C>G (p.Gln457Glu) c.671C>G | |
1 | g.153813252G= | CA2480600642 | GATAD2B | c.1417C= (p.Gln473=) c.1369C= (p.Gln457=) c.671C= | |
1 | g.153813252G>T | CA342523638 | GATAD2B | c.1417C>A (p.Gln473Lys) c.1369C>A (p.Gln457Lys) c.671C>A | |
1 | g.153813253T>A | CA342523644 | GATAD2B | c.1416A>T (p.Glu472Asp) c.1368A>T (p.Glu456Asp) c.670A>T | |
1 | g.153813253T>C | CA1120662 | GATAD2B | c.1416A>G (p.Glu472=) c.1368A>G (p.Glu456=) c.670A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.153813253T>G | CA342523640 | GATAD2B | c.1416A>C (p.Glu472Asp) c.1368A>C (p.Glu456Asp) c.670A>C | |
1 | g.153813253T= | CA2480600643 | GATAD2B | c.1416A= (p.Glu472=) c.1368A= (p.Glu456=) c.670A= | |
1 | g.153813254T>A | CA342523650 | GATAD2B | c.1415A>T (p.Glu472Val) c.1367A>T (p.Glu456Val) c.669A>T | |
1 | g.153813254T>C | CA342523653 | GATAD2B | c.1415A>G (p.Glu472Gly) c.1367A>G (p.Glu456Gly) c.669A>G | |
1 | g.153813254T>G | CA342523656 | GATAD2B | c.1415A>C (p.Glu472Ala) c.1367A>C (p.Glu456Ala) c.669A>C | |
1 | g.153813254_153813255delinsTC | CA2480600644 | GATAD2B | c.1414_1415delinsGA (p.Glu472=) c.1366_1367delinsGA (p.Glu456=) c.668_669delinsGA | |
1 | g.153813255C>A | CA342523659 | GATAD2B | c.1414G>T (p.Glu472Ter) c.1366G>T (p.Glu456Ter) c.668G>T | |
1 | g.153813255C= | CA2480600645 | GATAD2B | c.1414G= (p.Glu472=) c.1366G= (p.Glu456=) c.668G= | |
1 | g.153813255C>G | CA342523661 | GATAD2B | c.1414G>C (p.Glu472Gln) c.1366G>C (p.Glu456Gln) c.668G>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.153813255C>T | CA342523665 | GATAD2B | c.1414G>A (p.Glu472Lys) c.1366G>A (p.Glu456Lys) c.668G>A | |
1 | g.153813256del | CA16616977 | GATAD2B | c.1414del (p.Glu472AsnfsTer?) c.1366del (p.Glu456AsnfsTer?) c.668del | ClinVar dbSNP |
1 | g.153813256C>A | CA342523672 | GATAD2B | c.1413G>T (p.Gln471His) c.1365G>T (p.Gln455His) c.667G>T | |
1 | g.153813256C>G | CA342523668 | GATAD2B | c.1413G>C (p.Gln471His) c.1365G>C (p.Gln455His) c.667G>C | |
1 | g.153813256C>T | CA420830833 | GATAD2B | c.1413G>A (p.Gln471=) c.1365G>A (p.Gln455=) c.667G>A | |
1 | g.153813257T>A | CA342523677 | GATAD2B | c.1412A>T (p.Gln471Leu) c.1364A>T (p.Gln455Leu) c.666A>T | |
1 | g.153813257T>C | CA342523680 | GATAD2B | c.1412A>G (p.Gln471Arg) c.1364A>G (p.Gln455Arg) c.666A>G | |
1 | g.153813257T>G | CA342523683 | GATAD2B | c.1412A>C (p.Gln471Pro) c.1364A>C (p.Gln455Pro) c.666A>C | |
1 | g.153813258G>A | CA342523687 | GATAD2B | c.1411C>T (p.Gln471Ter) c.1363C>T (p.Gln455Ter) c.665C>T | ClinVar |
1 | g.153813258G>C | CA342523691 | GATAD2B | c.1411C>G (p.Gln471Glu) c.1363C>G (p.Gln455Glu) c.665C>G | |
1 | g.153813258G>T | CA342523694 | GATAD2B | c.1411C>A (p.Gln471Lys) c.1363C>A (p.Gln455Lys) c.665C>A | |
1 | g.153813259C>A | CA342523697 | GATAD2B | c.1410G>T (p.Gln470His) c.1362G>T (p.Gln454His) c.664G>T | |
1 | g.153813259C= | CA1143738773 | GATAD2B | c.1410G= (p.Gln470=) c.1362G= (p.Gln454=) c.664G= | |
1 | g.153813259C>G | CA342523700 | GATAD2B | c.1410G>C (p.Gln470His) c.1362G>C (p.Gln454His) c.664G>C | |
1 | g.153813259C>T | CA1120663 | GATAD2B | c.1410G>A (p.Gln470=) c.1362G>A (p.Gln454=) c.664G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.153813260T>A | CA342523705 | GATAD2B | c.1409A>T (p.Gln470Leu) c.1361A>T (p.Gln454Leu) c.663A>T | |
1 | g.153813260T>C | CA342523708 | GATAD2B | c.1409A>G (p.Gln470Arg) c.1361A>G (p.Gln454Arg) c.663A>G | |
1 | g.153813260T>G | CA342523709 | GATAD2B | c.1409A>C (p.Gln470Pro) c.1361A>C (p.Gln454Pro) c.663A>C |