| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.113588288dup | CA918764873 | HABP2 | c.1602dup (p.Lys535GlufsTer23) c.1524dup (p.Lys509GlufsTer23) | dbSNP |
| 10 | g.113588288del | CA596112886 | HABP2 | c.1602del (p.Lys535ArgfsTer13) c.1524del (p.Lys509ArgfsTer13) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588287G>A | CA211167 | HABP2 | c.1601G>A (p.Gly534Glu) c.1523G>A (p.Gly508Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588287G>C | CA378422191 | HABP2 | c.1601G>C (p.Gly534Ala) c.1523G>C (p.Gly508Ala) | |
| 10 | g.113588287G= | CA1937429177 | HABP2 | c.1601G= (p.Gly534=) c.1523G= (p.Gly508=) | |
| 10 | g.113588287G>T | CA378422193 | HABP2 | c.1601G>T (p.Gly534Val) c.1523G>T (p.Gly508Val) | |
| 10 | g.113588288G>A | CA471516915 | HABP2 | c.1602G>A (p.Gly534=) c.1524G>A (p.Gly508=) | |
| 10 | g.113588288G>C | CA471516913 | HABP2 | c.1602G>C (p.Gly534=) c.1524G>C (p.Gly508=) | |
| 10 | g.113588288G>T | CA471516911 | HABP2 | c.1602G>T (p.Gly534=) c.1524G>T (p.Gly508=) | gnomAD v4 |
| 10 | g.113588289A>C | CA378422194 | HABP2 | c.1603A>C (p.Lys535Gln) c.1525A>C (p.Lys509Gln) | |
| 10 | g.113588289A>G | CA378422196 | HABP2 | c.1603A>G (p.Lys535Glu) c.1525A>G (p.Lys509Glu) | |
| 10 | g.113588289A>T | CA378422198 | HABP2 | c.1603A>T (p.Lys535Ter) c.1525A>T (p.Lys509Ter) | |
| 10 | g.113588290A>C | CA378422200 | HABP2 | c.1604A>C (p.Lys535Thr) c.1526A>C (p.Lys509Thr) | gnomAD v4 |
| 10 | g.113588290A>G | CA378422202 | HABP2 | c.1604A>G (p.Lys535Arg) c.1526A>G (p.Lys509Arg) | |
| 10 | g.113588290A>T | CA378422204 | HABP2 | c.1604A>T (p.Lys535Met) c.1526A>T (p.Lys509Met) | |
| 10 | g.113588291G>A | CA471516922 | HABP2 | c.1605G>A (p.Lys535=) c.1527G>A (p.Lys509=) | |
| 10 | g.113588291G>C | CA378422206 | HABP2 | c.1605G>C (p.Lys535Asn) c.1527G>C (p.Lys509Asn) | |
| 10 | g.113588291G>T | CA378422208 | HABP2 | c.1605G>T (p.Lys535Asn) c.1527G>T (p.Lys509Asn) | gnomAD v4 |
| 10 | g.113588292A>C | CA471516924 | HABP2 | c.1606A>C (p.Arg536=) c.1528A>C (p.Arg510=) | gnomAD v4 |
| 10 | g.113588292A>G | CA378422213 | HABP2 | c.1606A>G (p.Arg536Gly) c.1528A>G (p.Arg510Gly) | |
| 10 | g.113588292A>T | CA378422210 | HABP2 | c.1606A>T (p.Arg536Trp) c.1528A>T (p.Arg510Trp) | |
| 10 | g.113588292_113588303delinsAGGCCAGGGGTC | CA1937429178 | HABP2 | c.1606_1617delinsAGGCCAGGGGTC (p.Arg536=) c.1528_1539delinsAGGCCAGGGGTC (p.Arg510=) | |
| 10 | g.113588293G>A | CA378422223 | HABP2 | c.1607G>A (p.Arg536Lys) c.1529G>A (p.Arg510Lys) | |
| 10 | g.113588293G>C | CA5694088 | HABP2 | c.1607G>C (p.Arg536Thr) c.1529G>C (p.Arg510Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588293G= | CA1937429179 | HABP2 | c.1607G= (p.Arg536=) c.1529G= (p.Arg510=) | |
| 10 | g.113588293G>T | CA378422227 | HABP2 | c.1607G>T (p.Arg536Met) c.1529G>T (p.Arg510Met) | dbSNP |
| 10 | g.113588293_113588303del | CA660072758 | HABP2 | c.1607_1617del (p.Arg536IlefsTer18) c.1529_1539del (p.Arg510IlefsTer18) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.113588294G>A | CA471516925 | HABP2 | c.1608G>A (p.Arg536=) c.1530G>A (p.Arg510=) | |
| 10 | g.113588294G>C | CA378422230 | HABP2 | c.1608G>C (p.Arg536Ser) c.1530G>C (p.Arg510Ser) | |
| 10 | g.113588294G>T | CA378422233 | HABP2 | c.1608G>T (p.Arg536Ser) c.1530G>T (p.Arg510Ser) | |
| 10 | g.113588295C>A | CA378422240 | HABP2 | c.1609C>A (p.Pro537Thr) c.1531C>A (p.Pro511Thr) | |
| 10 | g.113588295C= | CA1937429180 | HABP2 | c.1609C= (p.Pro537=) c.1531C= (p.Pro511=) | |
| 10 | g.113588295C>G | CA214443809 | HABP2 | c.1609C>G (p.Pro537Ala) c.1531C>G (p.Pro511Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588295C>T | CA378422235 | HABP2 | c.1609C>T (p.Pro537Ser) c.1531C>T (p.Pro511Ser) | |
| 10 | g.113588296C>A | CA378422242 | HABP2 | c.1610C>A (p.Pro537Gln) c.1532C>A (p.Pro511Gln) | dbSNP |
| 10 | g.113588296C= | CA1937429181 | HABP2 | c.1610C= (p.Pro537=) c.1532C= (p.Pro511=) | |
| 10 | g.113588296C>G | CA378422246 | HABP2 | c.1610C>G (p.Pro537Arg) c.1532C>G (p.Pro511Arg) | |
| 10 | g.113588296C>T | CA378422247 | HABP2 | c.1610C>T (p.Pro537Leu) c.1532C>T (p.Pro511Leu) | |
| 10 | g.113588297A>C | CA471516942 | HABP2 | c.1611A>C (p.Pro537=) c.1533A>C (p.Pro511=) | |
| 10 | g.113588297A>G | CA471516944 | HABP2 | c.1611A>G (p.Pro537=) c.1533A>G (p.Pro511=) | |
| 10 | g.113588297A>T | CA471516946 | HABP2 | c.1611A>T (p.Pro537=) c.1533A>T (p.Pro511=) | |
| 10 | g.113588298G>A | CA378422250 | HABP2 | c.1612G>A (p.Gly538Arg) c.1534G>A (p.Gly512Arg) | |
| 10 | g.113588298G>C | CA378422253 | HABP2 | c.1612G>C (p.Gly538Arg) c.1534G>C (p.Gly512Arg) | |
| 10 | g.113588298G>T | CA378422255 | HABP2 | c.1612G>T (p.Gly538Trp) c.1534G>T (p.Gly512Trp) | gnomAD v4 |
| 10 | g.113588301del | CA2521013447 | HABP2 | c.1615del (p.Val539SerfsTer9) c.1537del (p.Val513SerfsTer9) | |
| 10 | g.113588299G>A | CA378422258 | HABP2 | c.1613G>A (p.Gly538Glu) c.1535G>A (p.Gly512Glu) | gnomAD v4 |
| 10 | g.113588299G>C | CA378422262 | HABP2 | c.1613G>C (p.Gly538Ala) c.1535G>C (p.Gly512Ala) | |
| 10 | g.113588299G>T | CA378422260 | HABP2 | c.1613G>T (p.Gly538Val) c.1535G>T (p.Gly512Val) | |
| 10 | g.113588300G>A | CA471516954 | HABP2 | c.1614G>A (p.Gly538=) c.1536G>A (p.Gly512=) | dbSNP gnomAD v2 |
| 10 | g.113588300G>C | CA471516955 | HABP2 | c.1614G>C (p.Gly538=) c.1536G>C (p.Gly512=) |