UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.113588199C>A | CA660072549 | HABP2 | c.1519-6C>A (n.1519-6C>A) c.1441-6C>A (n.1441-6C>A) | dbSNP |
| 10 | g.113588199C= | CA1937429128 | HABP2 | c.1519-6C= (n.1519-6C=) c.1441-6C= (n.1441-6C=) | |
| 10 | g.113588200C>A | CA2610952442 | HABP2 | c.1519-5C>A (n.1519-5C>A) c.1441-5C>A (n.1441-5C>A) | gnomAD v4 |
| 10 | g.113588200C= | CA1937429129 | HABP2 | c.1519-5C= (n.1519-5C=) c.1441-5C= (n.1441-5C=) | |
| 10 | g.113588200C>T | CA5694065 | HABP2 | c.1519-5C>T (n.1519-5C>T) c.1441-5C>T (n.1441-5C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588203A= | CA1937429130 | HABP2 | c.1519-2A= (n.1519-2A=) c.1441-2A= (n.1441-2A=) | |
| 10 | g.113588203A>C | CA214443699 | HABP2 | c.1519-2A>C (n.1519-2A>C) c.1441-2A>C (n.1441-2A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.113588203A>G | CA378421946 | HABP2 | c.1519-2A>G (n.1519-2A>G) c.1441-2A>G (n.1441-2A>G) | |
| 10 | g.113588203A>T | CA378421947 | HABP2 | c.1519-2A>T (n.1519-2A>T) c.1441-2A>T (n.1441-2A>T) | gnomAD v4 |
| 10 | g.113588204G>A | CA378421950 | HABP2 | c.1519-1G>A (n.1519-1G>A) c.1441-1G>A (n.1441-1G>A) | gnomAD v4 |
| 10 | g.113588204G>C | CA378421949 | HABP2 | c.1519-1G>C (n.1519-1G>C) c.1441-1G>C (n.1441-1G>C) | gnomAD v4 |
| 10 | g.113588204G>T | CA378421948 | HABP2 | c.1519-1G>T (n.1519-1G>T) c.1441-1G>T (n.1441-1G>T) | |
| 10 | g.113588206del | CA2610952443 | HABP2 | c.1520del c.1442del | gnomAD v4 |
| 10 | g.113588205G>A | CA214443703 | HABP2 | c.1519G>A (p.Gly507Ser) c.1441G>A (p.Gly481Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.113588205G>C | CA378421951 | HABP2 | c.1519G>C (p.Gly507Arg) c.1441G>C (p.Gly481Arg) | gnomAD v4 |
| 10 | g.113588205G= | CA1937429131 | HABP2 | c.1519G= (p.Gly507=) c.1441G= (p.Gly481=) | |
| 10 | g.113588205G>T | CA378421952 | HABP2 | c.1519G>T (p.Gly507Cys) c.1441G>T (p.Gly481Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.113588206G>A | CA378421953 | HABP2 | c.1520G>A (p.Gly507Asp) c.1442G>A (p.Gly481Asp) | |
| 10 | g.113588206G>C | CA5694066 | HABP2 | c.1520G>C (p.Gly507Ala) c.1442G>C (p.Gly481Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588206G= | CA1937429132 | HABP2 | c.1520G= (p.Gly507=) c.1442G= (p.Gly481=) | |
| 10 | g.113588206G>T | CA5694067 | HABP2 | c.1520G>T (p.Gly507Val) c.1442G>T (p.Gly481Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588207T>A | CA471516673 | HABP2 | c.1521T>A (p.Gly507=) c.1443T>A (p.Gly481=) | |
| 10 | g.113588207T>C | CA471516675 | HABP2 | c.1521T>C (p.Gly507=) c.1443T>C (p.Gly481=) | |
| 10 | g.113588207T>G | CA5694068 | HABP2 | c.1521T>G (p.Gly507=) c.1443T>G (p.Gly481=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588207T= | CA1937429133 | HABP2 | c.1521T= (p.Gly507=) c.1443T= (p.Gly481=) | |
| 10 | g.113588208G>A | CA378421954 | HABP2 | c.1522G>A (p.Asp508Asn) c.1444G>A (p.Asp482Asn) | |
| 10 | g.113588208G>C | CA378421955 | HABP2 | c.1522G>C (p.Asp508His) c.1444G>C (p.Asp482His) | |
| 10 | g.113588208G>T | CA378421956 | HABP2 | c.1522G>T (p.Asp508Tyr) c.1444G>T (p.Asp482Tyr) | |
| 10 | g.113588209A>C | CA378421957 | HABP2 | c.1523A>C (p.Asp508Ala) c.1445A>C (p.Asp482Ala) | |
| 10 | g.113588209A>G | CA378421958 | HABP2 | c.1523A>G (p.Asp508Gly) c.1445A>G (p.Asp482Gly) | |
| 10 | g.113588209A>T | CA378421959 | HABP2 | c.1523A>T (p.Asp508Val) c.1445A>T (p.Asp482Val) | |
| 10 | g.113588210C>A | CA378421961 | HABP2 | c.1524C>A (p.Asp508Glu) c.1446C>A (p.Asp482Glu) | gnomAD v4 |
| 10 | g.113588210C= | CA1937429134 | HABP2 | c.1524C= (p.Asp508=) c.1446C= (p.Asp482=) | |
| 10 | g.113588210C>G | CA378421960 | HABP2 | c.1524C>G (p.Asp508Glu) c.1446C>G (p.Asp482Glu) | |
| 10 | g.113588210C>T | CA471516682 | HABP2 | c.1524C>T (p.Asp508=) c.1446C>T (p.Asp482=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.113588212_113588213del | CA2722919743 | HABP2 | c.1526_1527del (p.Ser509TrpfsTer7) c.1448_1449del (p.Ser483TrpfsTer7) | dbSNP |
| 10 | g.113588211T>A | CA378421962 | HABP2 | c.1525T>A (p.Ser509Thr) c.1447T>A (p.Ser483Thr) | |
| 10 | g.113588211T>C | CA378421963 | HABP2 | c.1525T>C (p.Ser509Pro) c.1447T>C (p.Ser483Pro) | |
| 10 | g.113588211T>G | CA5694069 | HABP2 | c.1525T>G (p.Ser509Ala) c.1447T>G (p.Ser483Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588211T= | CA1937429135 | HABP2 | c.1525T= (p.Ser509=) c.1447T= (p.Ser483=) | |
| 10 | g.113588212C>A | CA378421964 | HABP2 | c.1526C>A (p.Ser509Tyr) c.1448C>A (p.Ser483Tyr) | gnomAD v4 |
| 10 | g.113588212C>G | CA378421965 | HABP2 | c.1526C>G (p.Ser509Cys) c.1448C>G (p.Ser483Cys) | |
| 10 | g.113588212C>T | CA378421966 | HABP2 | c.1526C>T (p.Ser509Phe) c.1448C>T (p.Ser483Phe) | gnomAD v4 |
| 10 | g.113588213T>A | CA471516688 | HABP2 | c.1527T>A (p.Ser509=) c.1449T>A (p.Ser483=) | |
| 10 | g.113588213T>C | CA471516690 | HABP2 | c.1527T>C (p.Ser509=) c.1449T>C (p.Ser483=) | |
| 10 | g.113588213T>G | CA471516691 | HABP2 | c.1527T>G (p.Ser509=) c.1449T>G (p.Ser483=) | |
| 10 | g.113588214G>A | CA378421969 | HABP2 | c.1528G>A (p.Gly510Arg) c.1450G>A (p.Gly484Arg) | |
| 10 | g.113588214G>C | CA378421968 | HABP2 | c.1528G>C (p.Gly510Arg) c.1450G>C (p.Gly484Arg) | |
| 10 | g.113588214G>T | CA378421967 | HABP2 | c.1528G>T (p.Gly510Ter) c.1450G>T (p.Gly484Ter) | |
| 10 | g.113588215_113588218del | CA2610952444 | HABP2 | c.1529_1532del (p.Gly510AlafsTer3) c.1451_1454del (p.Gly484AlafsTer3) | gnomAD v4 |
| 10 | g.113588215G>A | CA378421970 | HABP2 | c.1529G>A (p.Gly510Glu) c.1451G>A (p.Gly484Glu) | gnomAD v4 |
| 10 | g.113588215G>C | CA378421971 | HABP2 | c.1529G>C (p.Gly510Ala) c.1451G>C (p.Gly484Ala) | |
| 10 | g.113588215G>T | CA378421972 | HABP2 | c.1529G>T (p.Gly510Val) c.1451G>T (p.Gly484Val) | |
| 10 | g.113588216A>C | CA471516698 | HABP2 | c.1530A>C (p.Gly510=) c.1452A>C (p.Gly484=) | |
| 10 | g.113588216A>G | CA471516699 | HABP2 | c.1530A>G (p.Gly510=) c.1452A>G (p.Gly484=) | |
| 10 | g.113588216A>T | CA471516701 | HABP2 | c.1530A>T (p.Gly510=) c.1452A>T (p.Gly484=) | |
| 10 | g.113588217G>A | CA378421973 | HABP2 | c.1531G>A (p.Gly511Ser) c.1453G>A (p.Gly485Ser) | gnomAD v4 |
| 10 | g.113588217G>C | CA378421974 | HABP2 | c.1531G>C (p.Gly511Arg) c.1453G>C (p.Gly485Arg) | |
| 10 | g.113588217G>T | CA378421975 | HABP2 | c.1531G>T (p.Gly511Cys) c.1453G>T (p.Gly485Cys) | |
| 10 | g.113588218G>A | CA378421976 | HABP2 | c.1532G>A (p.Gly511Asp) c.1454G>A (p.Gly485Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.113588218G>C | CA378421978 | HABP2 | c.1532G>C (p.Gly511Ala) c.1454G>C (p.Gly485Ala) | |
| 10 | g.113588218G= | CA1937429136 | HABP2 | c.1532G= (p.Gly511=) c.1454G= (p.Gly485=) | |
| 10 | g.113588218G>T | CA378421977 | HABP2 | c.1532G>T (p.Gly511Val) c.1454G>T (p.Gly485Val) | |
| 10 | g.113588219C>A | CA471516707 | HABP2 | c.1533C>A (p.Gly511=) c.1455C>A (p.Gly485=) | |
| 10 | g.113588219C>G | CA471516708 | HABP2 | c.1533C>G (p.Gly511=) c.1455C>G (p.Gly485=) | |
| 10 | g.113588219C>T | CA471516710 | HABP2 | c.1533C>T (p.Gly511=) c.1455C>T (p.Gly485=) | gnomAD v4 |
| 10 | g.113588223dup | CA596112885 | HABP2 | c.1537dup (p.Leu513ProfsTer4) c.1459dup (p.Leu487ProfsTer4) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.113588222_113588223dup | CA2789543028 | HABP2 | c.1536_1537dup (p.Leu513ProfsTer2) c.1458_1459dup (p.Leu487ProfsTer2) | |
| 10 | g.113588223del | CA2610952445 | HABP2 | c.1537del (p.Leu513Ter) c.1459del (p.Leu487Ter) | gnomAD v4 |
| 10 | g.113588220C>A | CA378421979 | HABP2 | c.1534C>A (p.Pro512Thr) c.1456C>A (p.Pro486Thr) | |
| 10 | g.113588220C>G | CA378421980 | HABP2 | c.1534C>G (p.Pro512Ala) c.1456C>G (p.Pro486Ala) | |
| 10 | g.113588220C>T | CA378421981 | HABP2 | c.1534C>T (p.Pro512Ser) c.1456C>T (p.Pro486Ser) | |
| 10 | g.113588221C>A | CA378421982 | HABP2 | c.1535C>A (p.Pro512His) c.1457C>A (p.Pro486His) | gnomAD v4 |
| 10 | g.113588221C>G | CA378421983 | HABP2 | c.1535C>G (p.Pro512Arg) c.1457C>G (p.Pro486Arg) | |
| 10 | g.113588221C>T | CA378421984 | HABP2 | c.1535C>T (p.Pro512Leu) c.1457C>T (p.Pro486Leu) | |
| 10 | g.113588222C>A | CA471516716 | HABP2 | c.1536C>A (p.Pro512=) c.1458C>A (p.Pro486=) | |
| 10 | g.113588222C>G | CA471516719 | HABP2 | c.1536C>G (p.Pro512=) c.1458C>G (p.Pro486=) | |
| 10 | g.113588222C>T | CA471516717 | HABP2 | c.1536C>T (p.Pro512=) c.1458C>T (p.Pro486=) | |
| 10 | g.113588223C>A | CA378421985 | HABP2 | c.1537C>A (p.Leu513Met) c.1459C>A (p.Leu487Met) | |
| 10 | g.113588223C>G | CA378421986 | HABP2 | c.1537C>G (p.Leu513Val) c.1459C>G (p.Leu487Val) | |
| 10 | g.113588223C>T | CA471516723 | HABP2 | c.1537C>T (p.Leu513=) c.1459C>T (p.Leu487=) | |
| 10 | g.113588224del | CA2610952446 | HABP2 | c.1538del (p.Leu513ArgfsTer14) c.1460del (p.Leu487ArgfsTer14) | gnomAD v4 |
| 10 | g.113588224T>A | CA378421987 | HABP2 | c.1538T>A (p.Leu513Gln) c.1460T>A (p.Leu487Gln) | |
| 10 | g.113588224T>C | CA5694070 | HABP2 | c.1538T>C (p.Leu513Pro) c.1460T>C (p.Leu487Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588224T>G | CA378421988 | HABP2 | c.1538T>G (p.Leu513Arg) c.1460T>G (p.Leu487Arg) | |
| 10 | g.113588224T= | CA1937429137 | HABP2 | c.1538T= (p.Leu513=) c.1460T= (p.Leu487=) | |
| 10 | g.113588225G>A | CA471516727 | HABP2 | c.1539G>A (p.Leu513=) c.1461G>A (p.Leu487=) | gnomAD v4 |
| 10 | g.113588225G>C | CA471516729 | HABP2 | c.1539G>C (p.Leu513=) c.1461G>C (p.Leu487=) | |
| 10 | g.113588225G>T | CA471516730 | HABP2 | c.1539G>T (p.Leu513=) c.1461G>T (p.Leu487=) | |
| 10 | g.113588226A>C | CA378421989 | HABP2 | c.1540A>C (p.Thr514Pro) c.1462A>C (p.Thr488Pro) | |
| 10 | g.113588226A>G | CA378421991 | HABP2 | c.1540A>G (p.Thr514Ala) c.1462A>G (p.Thr488Ala) | gnomAD v4 |
| 10 | g.113588226A>T | CA378421990 | HABP2 | c.1540A>T (p.Thr514Ser) c.1462A>T (p.Thr488Ser) | |
| 10 | g.113588227C>A | CA378421992 | HABP2 | c.1541C>A (p.Thr514Asn) c.1463C>A (p.Thr488Asn) | gnomAD v4 |
| 10 | g.113588227C= | CA1937429138 | HABP2 | c.1541C= (p.Thr514=) c.1463C= (p.Thr488=) | |
| 10 | g.113588227C>G | CA378421994 | HABP2 | c.1541C>G (p.Thr514Ser) c.1463C>G (p.Thr488Ser) | |
| 10 | g.113588227C>T | CA378421993 | HABP2 | c.1541C>T (p.Thr514Ile) c.1463C>T (p.Thr488Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.113588228C>A | CA214443718 | HABP2 | c.1542C>A (p.Thr514=) c.1464C>A (p.Thr488=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.113588228C= | CA1937429139 | HABP2 | c.1542C= (p.Thr514=) c.1464C= (p.Thr488=) | |
| 10 | g.113588228C>G | CA471516737 | HABP2 | c.1542C>G (p.Thr514=) c.1464C>G (p.Thr488=) | |
| 10 | g.113588228C>T | CA5694071 | HABP2 | c.1542C>T (p.Thr514=) c.1464C>T (p.Thr488=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588229T>A | CA378421995 | HABP2 | c.1543T>A (p.Cys515Ser) c.1465T>A (p.Cys489Ser) | |
| 10 | g.113588229T>C | CA5694072 | HABP2 | c.1543T>C (p.Cys515Arg) c.1465T>C (p.Cys489Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588229T>G | CA378421996 | HABP2 | c.1543T>G (p.Cys515Gly) c.1465T>G (p.Cys489Gly) | |
| 10 | g.113588229T= | CA1937429140 | HABP2 | c.1543T= (p.Cys515=) c.1465T= (p.Cys489=) | |
| 10 | g.113588230G>A | CA378421997 | HABP2 | c.1544G>A (p.Cys515Tyr) c.1466G>A (p.Cys489Tyr) | |
| 10 | g.113588230G>C | CA378421998 | HABP2 | c.1544G>C (p.Cys515Ser) c.1466G>C (p.Cys489Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.113588230G= | CA1937429141 | HABP2 | c.1544G= (p.Cys515=) c.1466G= (p.Cys489=) | |
| 10 | g.113588230G>T | CA378421999 | HABP2 | c.1544G>T (p.Cys515Phe) c.1466G>T (p.Cys489Phe) | gnomAD v4 |
| 10 | g.113588231T>A | CA5694073 | HABP2 | c.1545T>A (p.Cys515Ter) c.1467T>A (p.Cys489Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.113588231T>C | CA471516745 | HABP2 | c.1545T>C (p.Cys515=) c.1467T>C (p.Cys489=) | |
| 10 | g.113588231T>G | CA378422000 | HABP2 | c.1545T>G (p.Cys515Trp) c.1467T>G (p.Cys489Trp) | |
| 10 | g.113588231T= | CA1937429142 | HABP2 | c.1545T= (p.Cys515=) c.1467T= (p.Cys489=) | |
| 10 | g.113588232G>A | CA378422001 | HABP2 | c.1546G>A (p.Glu516Lys) c.1468G>A (p.Glu490Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588232G>C | CA378422002 | HABP2 | c.1546G>C (p.Glu516Gln) c.1468G>C (p.Glu490Gln) | |
| 10 | g.113588232G= | CA1937429143 | HABP2 | c.1546G= (p.Glu516=) c.1468G= (p.Glu490=) | |
| 10 | g.113588232G>T | CA378422003 | HABP2 | c.1546G>T (p.Glu516Ter) c.1468G>T (p.Glu490Ter) | |
| 10 | g.113588233A= | CA1937429144 | HABP2 | c.1547A= (p.Glu516=) c.1469A= (p.Glu490=) | |
| 10 | g.113588233A>C | CA378422004 | HABP2 | c.1547A>C (p.Glu516Ala) c.1469A>C (p.Glu490Ala) | |
| 10 | g.113588233A>G | CA378422005 | HABP2 | c.1547A>G (p.Glu516Gly) c.1469A>G (p.Glu490Gly) | |
| 10 | g.113588233A>T | CA214443734 | HABP2 | c.1547A>T (p.Glu516Val) c.1469A>T (p.Glu490Val) | dbSNP |
| 10 | g.113588234G>A | CA471516753 | HABP2 | c.1548G>A (p.Glu516=) c.1470G>A (p.Glu490=) | |
| 10 | g.113588234G>C | CA378422006 | HABP2 | c.1548G>C (p.Glu516Asp) c.1470G>C (p.Glu490Asp) | gnomAD v4 |
| 10 | g.113588234G>T | CA378422007 | HABP2 | c.1548G>T (p.Glu516Asp) c.1470G>T (p.Glu490Asp) | |
| 10 | g.113588235A= | CA1937429145 | HABP2 | c.1549A= (p.Lys517=) c.1471A= (p.Lys491=) | |
| 10 | g.113588235A>C | CA5694074 | HABP2 | c.1549A>C (p.Lys517Gln) c.1471A>C (p.Lys491Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.113588235A>G | CA378422008 | HABP2 | c.1549A>G (p.Lys517Glu) c.1471A>G (p.Lys491Glu) | |
| 10 | g.113588235A>T | CA378422009 | HABP2 | c.1549A>T (p.Lys517Ter) c.1471A>T (p.Lys491Ter) | |
| 10 | g.113588236A>C | CA378422010 | HABP2 | c.1550A>C (p.Lys517Thr) c.1472A>C (p.Lys491Thr) | |
| 10 | g.113588236A>G | CA378422011 | HABP2 | c.1550A>G (p.Lys517Arg) c.1472A>G (p.Lys491Arg) | |
| 10 | g.113588236A>T | CA378422012 | HABP2 | c.1550A>T (p.Lys517Met) c.1472A>T (p.Lys491Met) | |
| 10 | g.113588237G>A | CA5694075 | HABP2 | c.1551G>A (p.Lys517=) c.1473G>A (p.Lys491=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588237G>C | CA378422013 | HABP2 | c.1551G>C (p.Lys517Asn) c.1473G>C (p.Lys491Asn) | |
| 10 | g.113588237G= | CA1937429146 | HABP2 | c.1551G= (p.Lys517=) c.1473G= (p.Lys491=) | |
| 10 | g.113588237G>T | CA378422014 | HABP2 | c.1551G>T (p.Lys517Asn) c.1473G>T (p.Lys491Asn) | |
| 10 | g.113588238G>A | CA378422015 | HABP2 | c.1552G>A (p.Asp518Asn) c.1474G>A (p.Asp492Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.113588238G>C | CA378422016 | HABP2 | c.1552G>C (p.Asp518His) c.1474G>C (p.Asp492His) | |
| 10 | g.113588238G= | CA1937429147 | HABP2 | c.1552G= (p.Asp518=) c.1474G= (p.Asp492=) | |
| 10 | g.113588238G>T | CA378422017 | HABP2 | c.1552G>T (p.Asp518Tyr) c.1474G>T (p.Asp492Tyr) | |
| 10 | g.113588239A= | CA1937429148 | HABP2 | c.1553A= (p.Asp518=) c.1475A= (p.Asp492=) | |
| 10 | g.113588239A>C | CA378422018 | HABP2 | c.1553A>C (p.Asp518Ala) c.1475A>C (p.Asp492Ala) | |
| 10 | g.113588239A>G | CA378422020 | HABP2 | c.1553A>G (p.Asp518Gly) c.1475A>G (p.Asp492Gly) | |
| 10 | g.113588239A>T | CA378422019 | HABP2 | c.1553A>T (p.Asp518Val) c.1475A>T (p.Asp492Val) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.113588240C>A | CA378422021 | HABP2 | c.1554C>A (p.Asp518Glu) c.1476C>A (p.Asp492Glu) | |
| 10 | g.113588240C= | CA1937429149 | HABP2 | c.1554C= (p.Asp518=) c.1476C= (p.Asp492=) | |
| 10 | g.113588240C>G | CA378422022 | HABP2 | c.1554C>G (p.Asp518Glu) c.1476C>G (p.Asp492Glu) | dbSNP |
| 10 | g.113588240C>T | CA5694076 | HABP2 | c.1554C>T (p.Asp518=) c.1476C>T (p.Asp492=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588241_113588246del | CA2574672124 | HABP2 | c.1555_1560del (p.Gly519_Thr520del) c.1477_1482del (p.Gly493_Thr494del) | |
| 10 | g.113588241G>A | CA5694077 | HABP2 | c.1555G>A (p.Gly519Ser) c.1477G>A (p.Gly493Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588241G>C | CA378422023 | HABP2 | c.1555G>C (p.Gly519Arg) c.1477G>C (p.Gly493Arg) | COSMIC |
| 10 | g.113588241G= | CA1937429150 | HABP2 | c.1555G= (p.Gly519=) c.1477G= (p.Gly493=) | |
| 10 | g.113588241G>T | CA378422024 | HABP2 | c.1555G>T (p.Gly519Cys) c.1477G>T (p.Gly493Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.113588242G>A | CA378422025 | HABP2 | c.1556G>A (p.Gly519Asp) c.1478G>A (p.Gly493Asp) | dbSNP gnomAD v4 |
| 10 | g.113588242G>C | CA378422026 | HABP2 | c.1556G>C (p.Gly519Ala) c.1478G>C (p.Gly493Ala) | |
| 10 | g.113588242G= | CA1937429151 | HABP2 | c.1556G= (p.Gly519=) c.1478G= (p.Gly493=) | |
| 10 | g.113588242G>T | CA378422027 | HABP2 | c.1556G>T (p.Gly519Val) c.1478G>T (p.Gly493Val) | |
| 10 | g.113588243C>A | CA471516775 | HABP2 | c.1557C>A (p.Gly519=) c.1479C>A (p.Gly493=) | |
| 10 | g.113588243C= | CA1937429152 | HABP2 | c.1557C= (p.Gly519=) c.1479C= (p.Gly493=) | |
| 10 | g.113588243C>G | CA471516776 | HABP2 | c.1557C>G (p.Gly519=) c.1479C>G (p.Gly493=) | |
| 10 | g.113588243C>T | CA5694078 | HABP2 | c.1557C>T (p.Gly519=) c.1479C>T (p.Gly493=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.113588244A= | CA1937429153 | HABP2 | c.1558A= (p.Thr520=) c.1480A= (p.Thr494=) | |
| 10 | g.113588244A>C | CA214443752 | HABP2 | c.1558A>C (p.Thr520Pro) c.1480A>C (p.Thr494Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.113588244A>G | CA378422028 | HABP2 | c.1558A>G (p.Thr520Ala) c.1480A>G (p.Thr494Ala) | |
| 10 | g.113588244A>T | CA378422029 | HABP2 | c.1558A>T (p.Thr520Ser) c.1480A>T (p.Thr494Ser) | |
| 10 | g.113588245C>A | CA378422030 | HABP2 | c.1559C>A (p.Thr520Asn) c.1481C>A (p.Thr494Asn) | dbSNP gnomAD v2 |
| 10 | g.113588245C= | CA1937429154 | HABP2 | c.1559C= (p.Thr520=) c.1481C= (p.Thr494=) | |
| 10 | g.113588245C>G | CA5694079 | HABP2 | c.1559C>G (p.Thr520Ser) c.1481C>G (p.Thr494Ser) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 10 | g.113588245C>T | CA5694080 | HABP2 | c.1559C>T (p.Thr520Ile) c.1481C>T (p.Thr494Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588246C>A | CA214443759 | HABP2 | c.1560C>A (p.Thr520=) c.1482C>A (p.Thr494=) | dbSNP |
| 10 | g.113588246C= | CA1937429155 | HABP2 | c.1560C= (p.Thr520=) c.1482C= (p.Thr494=) | |
| 10 | g.113588246C>G | CA471516785 | HABP2 | c.1560C>G (p.Thr520=) c.1482C>G (p.Thr494=) | |
| 10 | g.113588246C>T | CA471516787 | HABP2 | c.1560C>T (p.Thr520=) c.1482C>T (p.Thr494=) | gnomAD v4 |
| 10 | g.113588247T>A | CA378422031 | HABP2 | c.1561T>A (p.Tyr521Asn) c.1483T>A (p.Tyr495Asn) | |
| 10 | g.113588247T>C | CA10628080 | HABP2 | c.1561T>C (p.Tyr521His) c.1483T>C (p.Tyr495His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.113588247T>G | CA378422032 | HABP2 | c.1561T>G (p.Tyr521Asp) c.1483T>G (p.Tyr495Asp) | |
| 10 | g.113588247T= | CA1937429156 | HABP2 | c.1561T= (p.Tyr521=) c.1483T= (p.Tyr495=) | |
| 10 | g.113588247dup | CA2610952447 | HABP2 | c.1561dup (p.Tyr521LeufsTer?) c.1483dup (p.Tyr495LeufsTer?) | gnomAD v4 |
| 10 | g.113588248A>C | CA378422033 | HABP2 | c.1562A>C (p.Tyr521Ser) c.1484A>C (p.Tyr495Ser) | |
| 10 | g.113588248A>G | CA378422034 | HABP2 | c.1562A>G (p.Tyr521Cys) c.1484A>G (p.Tyr495Cys) | |
| 10 | g.113588248A>T | CA378422035 | HABP2 | c.1562A>T (p.Tyr521Phe) c.1484A>T (p.Tyr495Phe) | gnomAD v4 |
| 10 | g.113588249C>A | CA378422036 | HABP2 | c.1563C>A (p.Tyr521Ter) c.1485C>A (p.Tyr495Ter) | |
| 10 | g.113588249C= | CA1937429157 | HABP2 | c.1563C= (p.Tyr521=) c.1485C= (p.Tyr495=) | |
| 10 | g.113588249C>G | CA5694081 | HABP2 | c.1563C>G (p.Tyr521Ter) c.1485C>G (p.Tyr495Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588249C>T | CA471516795 | HABP2 | c.1563C>T (p.Tyr521=) c.1485C>T (p.Tyr495=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588250T>A | CA378422037 | HABP2 | c.1564T>A (p.Tyr522Asn) c.1486T>A (p.Tyr496Asn) | |
| 10 | g.113588250T>C | CA378422038 | HABP2 | c.1564T>C (p.Tyr522His) c.1486T>C (p.Tyr496His) | gnomAD v4 |
| 10 | g.113588250T>G | CA378422039 | HABP2 | c.1564T>G (p.Tyr522Asp) c.1486T>G (p.Tyr496Asp) | |
| 10 | g.113588251A>C | CA378422042 | HABP2 | c.1565A>C (p.Tyr522Ser) c.1487A>C (p.Tyr496Ser) | |
| 10 | g.113588251A>G | CA378422041 | HABP2 | c.1565A>G (p.Tyr522Cys) c.1487A>G (p.Tyr496Cys) | |
| 10 | g.113588251A>T | CA378422040 | HABP2 | c.1565A>T (p.Tyr522Phe) c.1487A>T (p.Tyr496Phe) | |
| 10 | g.113588252C>A | CA378422044 | HABP2 | c.1566C>A (p.Tyr522Ter) c.1488C>A (p.Tyr496Ter) | |
| 10 | g.113588252C= | CA1937429158 | HABP2 | c.1566C= (p.Tyr522=) c.1488C= (p.Tyr496=) | |
| 10 | g.113588252C>G | CA378422043 | HABP2 | c.1566C>G (p.Tyr522Ter) c.1488C>G (p.Tyr496Ter) | |
| 10 | g.113588252C>T | CA5694082 | HABP2 | c.1566C>T (p.Tyr522=) c.1488C>T (p.Tyr496=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588253G>A | CA214443771 | HABP2 | c.1567G>A (p.Val523Ile) c.1489G>A (p.Val497Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588253G>C | CA378422045 | HABP2 | c.1567G>C (p.Val523Leu) c.1489G>C (p.Val497Leu) | |
| 10 | g.113588253G= | CA1937429159 | HABP2 | c.1567G= (p.Val523=) c.1489G= (p.Val497=) | |
| 10 | g.113588253G>T | CA378422047 | HABP2 | c.1567G>T (p.Val523Phe) c.1489G>T (p.Val497Phe) | |
| 10 | g.113588253_113588256dup | CA2610952448 | HABP2 | c.1567_1570dup (p.Tyr524CysfsTer?) c.1489_1492dup (p.Tyr498CysfsTer?) | gnomAD v4 |
| 10 | g.113588254T>A | CA378422050 | HABP2 | c.1568T>A (p.Val523Asp) c.1490T>A (p.Val497Asp) | |
| 10 | g.113588254T>C | CA378422051 | HABP2 | c.1568T>C (p.Val523Ala) c.1490T>C (p.Val497Ala) | gnomAD v4 |
| 10 | g.113588254T>G | CA378422052 | HABP2 | c.1568T>G (p.Val523Gly) c.1490T>G (p.Val497Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.113588254T= | CA1937429160 | HABP2 | c.1568T= (p.Val523=) c.1490T= (p.Val497=) | |
| 10 | g.113588255C>A | CA471516810 | HABP2 | c.1569C>A (p.Val523=) c.1491C>A (p.Val497=) | |
| 10 | g.113588255C>G | CA471516813 | HABP2 | c.1569C>G (p.Val523=) c.1491C>G (p.Val497=) | |
| 10 | g.113588255C>T | CA471516811 | HABP2 | c.1569C>T (p.Val523=) c.1491C>T (p.Val497=) | |
| 10 | g.113588256T>A | CA378422059 | HABP2 | c.1570T>A (p.Tyr524Asn) c.1492T>A (p.Tyr498Asn) | |
| 10 | g.113588256T>C | CA378422055 | HABP2 | c.1570T>C (p.Tyr524His) c.1492T>C (p.Tyr498His) | |
| 10 | g.113588256T>G | CA378422057 | HABP2 | c.1570T>G (p.Tyr524Asp) c.1492T>G (p.Tyr498Asp) | |
| 10 | g.113588257A= | CA1937429161 | HABP2 | c.1571A= (p.Tyr524=) c.1493A= (p.Tyr498=) | |
| 10 | g.113588257A>C | CA378422062 | HABP2 | c.1571A>C (p.Tyr524Ser) c.1493A>C (p.Tyr498Ser) | |
| 10 | g.113588257A>G | CA5694083 | HABP2 | c.1571A>G (p.Tyr524Cys) c.1493A>G (p.Tyr498Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588257A>T | CA378422064 | HABP2 | c.1571A>T (p.Tyr524Phe) c.1493A>T (p.Tyr498Phe) | |
| 10 | g.113588258T>A | CA378422066 | HABP2 | c.1572T>A (p.Tyr524Ter) c.1494T>A (p.Tyr498Ter) | |
| 10 | g.113588258T>C | CA471516826 | HABP2 | c.1572T>C (p.Tyr524=) c.1494T>C (p.Tyr498=) | dbSNP |
| 10 | g.113588258T>G | CA378422068 | HABP2 | c.1572T>G (p.Tyr524Ter) c.1494T>G (p.Tyr498Ter) | |
| 10 | g.113588258T= | CA1937429162 | HABP2 | c.1572T= (p.Tyr524=) c.1494T= (p.Tyr498=) | |
| 10 | g.113588259G>A | CA5694084 | HABP2 | c.1573G>A (p.Gly525Arg) c.1495G>A (p.Gly499Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.113588259G>C | CA378422072 | HABP2 | c.1573G>C (p.Gly525Arg) c.1495G>C (p.Gly499Arg) | |
| 10 | g.113588259G= | CA1937429163 | HABP2 | c.1573G= (p.Gly525=) c.1495G= (p.Gly499=) | |
| 10 | g.113588259G>T | CA378422070 | HABP2 | c.1573G>T (p.Gly525Trp) c.1495G>T (p.Gly499Trp) | |
| 10 | g.113588260G>A | CA378422074 | HABP2 | c.1574G>A (p.Gly525Glu) c.1496G>A (p.Gly499Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.113588260G>C | CA378422076 | HABP2 | c.1574G>C (p.Gly525Ala) c.1496G>C (p.Gly499Ala) | |
| 10 | g.113588260G= | CA1937429164 | HABP2 | c.1574G= (p.Gly525=) c.1496G= (p.Gly499=) | |
| 10 | g.113588260G>T | CA378422078 | HABP2 | c.1574G>T (p.Gly525Val) c.1496G>T (p.Gly499Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.113588261G>A | CA471516833 | HABP2 | c.1575G>A (p.Gly525=) c.1497G>A (p.Gly499=) | |
| 10 | g.113588261G>C | CA471516836 | HABP2 | c.1575G>C (p.Gly525=) c.1497G>C (p.Gly499=) | |
| 10 | g.113588261G>T | CA471516834 | HABP2 | c.1575G>T (p.Gly525=) c.1497G>T (p.Gly499=) | |
| 10 | g.113588262A>C | CA378422080 | HABP2 | c.1576A>C (p.Ile526Leu) c.1498A>C (p.Ile500Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.113588262A>G | CA378422081 | HABP2 | c.1576A>G (p.Ile526Val) c.1498A>G (p.Ile500Val) | gnomAD v4 |
| 10 | g.113588262A>T | CA378422084 | HABP2 | c.1576A>T (p.Ile526Leu) c.1498A>T (p.Ile500Leu) | |
| 10 | g.113588263T>A | CA378422086 | HABP2 | c.1577T>A (p.Ile526Lys) c.1499T>A (p.Ile500Lys) | |
| 10 | g.113588263T>C | CA214443781 | HABP2 | c.1577T>C (p.Ile526Thr) c.1499T>C (p.Ile500Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.113588263T>G | CA378422089 | HABP2 | c.1577T>G (p.Ile526Arg) c.1499T>G (p.Ile500Arg) | |
| 10 | g.113588263T= | CA1937429165 | HABP2 | c.1577T= (p.Ile526=) c.1499T= (p.Ile500=) | |
| 10 | g.113588264A= | CA1937429166 | HABP2 | c.1578A= (p.Ile526=) c.1500A= (p.Ile500=) | |
| 10 | g.113588264A>C | CA471516844 | HABP2 | c.1578A>C (p.Ile526=) c.1500A>C (p.Ile500=) | dbSNP |
| 10 | g.113588264A>G | CA378422091 | HABP2 | c.1578A>G (p.Ile526Met) c.1500A>G (p.Ile500Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588264A>T | CA471516846 | HABP2 | c.1578A>T (p.Ile526=) c.1500A>T (p.Ile500=) | |
| 10 | g.113588265G>A | CA378422096 | HABP2 | c.1579G>A (p.Val527Met) c.1501G>A (p.Val501Met) | gnomAD v4 |
| 10 | g.113588265G>C | CA378422095 | HABP2 | c.1579G>C (p.Val527Leu) c.1501G>C (p.Val501Leu) | |
| 10 | g.113588265G>T | CA378422093 | HABP2 | c.1579G>T (p.Val527Leu) c.1501G>T (p.Val501Leu) | |
| 10 | g.113588266T>A | CA378422099 | HABP2 | c.1580T>A (p.Val527Glu) c.1502T>A (p.Val501Glu) | |
| 10 | g.113588266T>C | CA378422100 | HABP2 | c.1580T>C (p.Val527Ala) c.1502T>C (p.Val501Ala) | gnomAD v4 |
| 10 | g.113588266T>G | CA378422102 | HABP2 | c.1580T>G (p.Val527Gly) c.1502T>G (p.Val501Gly) | gnomAD v4 |
| 10 | g.113588267G>A | CA471516852 | HABP2 | c.1581G>A (p.Val527=) c.1503G>A (p.Val501=) | |
| 10 | g.113588267G>C | CA471516854 | HABP2 | c.1581G>C (p.Val527=) c.1503G>C (p.Val501=) | |
| 10 | g.113588267G= | CA1937429167 | HABP2 | c.1581G= (p.Val527=) c.1503G= (p.Val501=) | |
| 10 | g.113588267G>T | CA214443784 | HABP2 | c.1581G>T (p.Val527=) c.1503G>T (p.Val501=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588268A>C | CA378422104 | HABP2 | c.1582A>C (p.Ser528Arg) c.1504A>C (p.Ser502Arg) | |
| 10 | g.113588268A>G | CA378422106 | HABP2 | c.1582A>G (p.Ser528Gly) c.1504A>G (p.Ser502Gly) | |
| 10 | g.113588268A>T | CA378422107 | HABP2 | c.1582A>T (p.Ser528Cys) c.1504A>T (p.Ser502Cys) | |
| 10 | g.113588269G>A | CA378422112 | HABP2 | c.1583G>A (p.Ser528Asn) c.1505G>A (p.Ser502Asn) | |
| 10 | g.113588269G>C | CA378422109 | HABP2 | c.1583G>C (p.Ser528Thr) c.1505G>C (p.Ser502Thr) | |
| 10 | g.113588269G= | CA1937429168 | HABP2 | c.1583G= (p.Ser528=) c.1505G= (p.Ser502=) | |
| 10 | g.113588269G>T | CA5694085 | HABP2 | c.1583G>T (p.Ser528Ile) c.1505G>T (p.Ser502Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588270C>A | CA378422114 | HABP2 | c.1584C>A (p.Ser528Arg) c.1506C>A (p.Ser502Arg) | |
| 10 | g.113588270C>G | CA378422116 | HABP2 | c.1584C>G (p.Ser528Arg) c.1506C>G (p.Ser502Arg) | |
| 10 | g.113588270C>T | CA471516861 | HABP2 | c.1584C>T (p.Ser528=) c.1506C>T (p.Ser502=) | |
| 10 | g.113588271T>A | CA378422118 | HABP2 | c.1585T>A (p.Trp529Arg) c.1507T>A (p.Trp503Arg) | |
| 10 | g.113588271T>C | CA378422121 | HABP2 | c.1585T>C (p.Trp529Arg) c.1507T>C (p.Trp503Arg) | |
| 10 | g.113588271T>G | CA378422122 | HABP2 | c.1585T>G (p.Trp529Gly) c.1507T>G (p.Trp503Gly) | |
| 10 | g.113588272G>A | CA378422125 | HABP2 | c.1586G>A (p.Trp529Ter) c.1508G>A (p.Trp503Ter) | gnomAD v4 |
| 10 | g.113588272G>C | CA378422128 | HABP2 | c.1586G>C (p.Trp529Ser) c.1508G>C (p.Trp503Ser) | |
| 10 | g.113588272G>T | CA378422126 | HABP2 | c.1586G>T (p.Trp529Leu) c.1508G>T (p.Trp503Leu) | |
| 10 | g.113588275dup | CA2610952449 | HABP2 | c.1589dup (p.Leu531ProfsTer27) c.1511dup (p.Leu505ProfsTer27) | gnomAD v4 |
| 10 | g.113588275del | CA2574672125 | HABP2 | c.1589del (p.Gly530AlafsTer18) c.1511del (p.Gly504AlafsTer18) | |
| 10 | g.113588273G>A | CA378422130 | HABP2 | c.1587G>A (p.Trp529Ter) c.1509G>A (p.Trp503Ter) | |
| 10 | g.113588273G>C | CA378422132 | HABP2 | c.1587G>C (p.Trp529Cys) c.1509G>C (p.Trp503Cys) | dbSNP |
| 10 | g.113588273G= | CA1937429169 | HABP2 | c.1587G= (p.Trp529=) c.1509G= (p.Trp503=) | |
| 10 | g.113588273G>T | CA378422134 | HABP2 | c.1587G>T (p.Trp529Cys) c.1509G>T (p.Trp503Cys) | gnomAD v4 |
| 10 | g.113588274G>A | CA378422136 | HABP2 | c.1588G>A (p.Gly530Ser) c.1510G>A (p.Gly504Ser) | |
| 10 | g.113588274G>C | CA378422138 | HABP2 | c.1588G>C (p.Gly530Arg) c.1510G>C (p.Gly504Arg) | |
| 10 | g.113588274G>T | CA378422139 | HABP2 | c.1588G>T (p.Gly530Cys) c.1510G>T (p.Gly504Cys) | |
| 10 | g.113588275G>A | CA378422142 | HABP2 | c.1589G>A (p.Gly530Asp) c.1511G>A (p.Gly504Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.113588275G>C | CA378422144 | HABP2 | c.1589G>C (p.Gly530Ala) c.1511G>C (p.Gly504Ala) | |
| 10 | g.113588275G= | CA1937429170 | HABP2 | c.1589G= (p.Gly530=) c.1511G= (p.Gly504=) | |
| 10 | g.113588275G>T | CA378422145 | HABP2 | c.1589G>T (p.Gly530Val) c.1511G>T (p.Gly504Val) | |
| 10 | g.113588276C>A | CA471516880 | HABP2 | c.1590C>A (p.Gly530=) c.1512C>A (p.Gly504=) | |
| 10 | g.113588276C>G | CA471516877 | HABP2 | c.1590C>G (p.Gly530=) c.1512C>G (p.Gly504=) | |
| 10 | g.113588276C>T | CA471516878 | HABP2 | c.1590C>T (p.Gly530=) c.1512C>T (p.Gly504=) | ClinVar dbSNP |
| 10 | g.113588277C>A | CA378422148 | HABP2 | c.1591C>A (p.Leu531Met) c.1513C>A (p.Leu505Met) | |
| 10 | g.113588277C= | CA1937429171 | HABP2 | c.1591C= (p.Leu531=) c.1513C= (p.Leu505=) | |
| 10 | g.113588277C>G | CA378422150 | HABP2 | c.1591C>G (p.Leu531Val) c.1513C>G (p.Leu505Val) | dbSNP |
| 10 | g.113588277C>T | CA214443789 | HABP2 | c.1591C>T (p.Leu531=) c.1513C>T (p.Leu505=) | dbSNP |
| 10 | g.113588278T>A | CA378422154 | HABP2 | c.1592T>A (p.Leu531Gln) c.1514T>A (p.Leu505Gln) | |
| 10 | g.113588278T>C | CA378422156 | HABP2 | c.1592T>C (p.Leu531Pro) c.1514T>C (p.Leu505Pro) | |
| 10 | g.113588278T>G | CA378422153 | HABP2 | c.1592T>G (p.Leu531Arg) c.1514T>G (p.Leu505Arg) | |
| 10 | g.113588279G>A | CA471516885 | HABP2 | c.1593G>A (p.Leu531=) c.1515G>A (p.Leu505=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588279G>C | CA471516886 | HABP2 | c.1593G>C (p.Leu531=) c.1515G>C (p.Leu505=) | gnomAD v4 |
| 10 | g.113588279G= | CA1937429172 | HABP2 | c.1593G= (p.Leu531=) c.1515G= (p.Leu505=) | |
| 10 | g.113588279G>T | CA471516890 | HABP2 | c.1593G>T (p.Leu531=) c.1515G>T (p.Leu505=) | |
| 10 | g.113588280G>A | CA378422160 | HABP2 | c.1594G>A (p.Glu532Lys) c.1516G>A (p.Glu506Lys) | gnomAD v4 |
| 10 | g.113588280G>C | CA378422162 | HABP2 | c.1594G>C (p.Glu532Gln) c.1516G>C (p.Glu506Gln) | |
| 10 | g.113588280G= | CA1937429173 | HABP2 | c.1594G= (p.Glu532=) c.1516G= (p.Glu506=) | |
| 10 | g.113588280G>T | CA5694087 | HABP2 | c.1594G>T (p.Glu532Ter) c.1516G>T (p.Glu506Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.113588281_113588284dup | CA5694086 | HABP2 | c.1595_1598dup (p.Cys533Ter) c.1517_1520dup (p.Cys507Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588281A>C | CA378422167 | HABP2 | c.1595A>C (p.Glu532Ala) c.1517A>C (p.Glu506Ala) | |
| 10 | g.113588281A>G | CA378422163 | HABP2 | c.1595A>G (p.Glu532Gly) c.1517A>G (p.Glu506Gly) | |
| 10 | g.113588281A>T | CA378422165 | HABP2 | c.1595A>T (p.Glu532Val) c.1517A>T (p.Glu506Val) | |
| 10 | g.113588282G>A | CA471516896 | HABP2 | c.1596G>A (p.Glu532=) c.1518G>A (p.Glu506=) | |
| 10 | g.113588282G>C | CA378422168 | HABP2 | c.1596G>C (p.Glu532Asp) c.1518G>C (p.Glu506Asp) | |
| 10 | g.113588282G>T | CA378422170 | HABP2 | c.1596G>T (p.Glu532Asp) c.1518G>T (p.Glu506Asp) | |
| 10 | g.113588283T>A | CA378422172 | HABP2 | c.1597T>A (p.Cys533Ser) c.1519T>A (p.Cys507Ser) | |
| 10 | g.113588283T>C | CA378422174 | HABP2 | c.1597T>C (p.Cys533Arg) c.1519T>C (p.Cys507Arg) | |
| 10 | g.113588283T>G | CA378422175 | HABP2 | c.1597T>G (p.Cys533Gly) c.1519T>G (p.Cys507Gly) | gnomAD v4 |
| 10 | g.113588284G>A | CA378422177 | HABP2 | c.1598G>A (p.Cys533Tyr) c.1520G>A (p.Cys507Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.113588284G>C | CA378422178 | HABP2 | c.1598G>C (p.Cys533Ser) c.1520G>C (p.Cys507Ser) | |
| 10 | g.113588284G= | CA1937429174 | HABP2 | c.1598G= (p.Cys533=) c.1520G= (p.Cys507=) | |
| 10 | g.113588284G>T | CA214443799 | HABP2 | c.1598G>T (p.Cys533Phe) c.1520G>T (p.Cys507Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113588285T>A | CA378422180 | HABP2 | c.1599T>A (p.Cys533Ter) c.1521T>A (p.Cys507Ter) | |
| 10 | g.113588285T>C | CA471516902 | HABP2 | c.1599T>C (p.Cys533=) c.1521T>C (p.Cys507=) | |
| 10 | g.113588285T>G | CA378422182 | HABP2 | c.1599T>G (p.Cys533Trp) c.1521T>G (p.Cys507Trp) | dbSNP gnomAD v4 |
| 10 | g.113588285T= | CA1937429176 | HABP2 | c.1599T= (p.Cys533=) c.1521T= (p.Cys507=) | |
| 10 | g.113588285_113588286delinsTG | CA1937429175 | HABP2 | c.1599_1600delinsTG (p.Cys533=) c.1521_1522delinsTG (p.Cys507=) | |
| 10 | g.113588286G>A | CA378422188 | HABP2 | c.1600G>A (p.Gly534Arg) c.1522G>A (p.Gly508Arg) | |
| 10 | g.113588286G>C | CA378422185 | HABP2 | c.1600G>C (p.Gly534Arg) c.1522G>C (p.Gly508Arg) | |
| 10 | g.113588286G>T | CA378422186 | HABP2 | c.1600G>T (p.Gly534Trp) c.1522G>T (p.Gly508Trp) | |
| 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) |